NGPD Amniocentesi Genomica - Altamedica Milano

NGPD Amniocentesi Genomica

A cosa serve l’esame di NGPD?

NGPD ovvero Next Generation Prenatal Diagnosis o, abbreviato, NGPD; fornisce tutte le informazioni oggi eticamente diagnosticabili con le più recenti metodologie genomiche. Essa va molto oltre l’amniocentesi tradizionale e quella molecolare, le cui informazioni vengono incluse e superate dalla straordinaria evoluzione dell’amniocentesi con NGPD.

Amniocentesi o Villocentesi VS Next Generation Prenatal Diagnosis

Il grafico che segue spiega bene le differenze tra una Diagnosi Prenatale (amniocentesi o villocentesi) tradizionale (quella con la ricerca delle più frequenti anomalie del DNA) e la nuova Next Generation Prenatal Diagnosis (NGPD). Se si considera che, in termini assoluti su 1000 bambini nati circa 80 (ad 1 anno di vita) mostreranno patologie congenite di varie natura (la gran parte genetica); con la NGPD arriviamo a scoprirne 50. Le altre sono o di natura diversa (non genetica) o talmente rare o sconosciute o non incluse per ragioni etiche. Si premette fin da ora che la NGPD è studiata con precise limitazioni etiche per cui una parte di malattie genetiche (ad esordio tardivo, incerto, oncologiche)non verranno indagate.

tabella grafico 3

Prendiamo ora a confronto le varie tipologie di indagini eseguibili sul liquido amniotico e sui villi coriali.

  • L’amniocentesi/villocentesi tradizionale diagnosticherà tutte le patologie cromosomiche, che rappresentano 1 o 2 casi su quegli 80 che sappiamo essere affetti da diverse anomalie.
  • L’amnio./villo. con lo studio parziale del DNA aggiunge alla diagnosi di tutte le patologie cromosomiche, anche le malattie genetiche più frequenti, come la Fibrosi Cistica, l’Atrofia Muscolare Spinale (SMA) il ritardo mentale da X-fragile, la Sordità ereditaria e così via, che raddoppiano le potenzialità diagnostiche dell’esame.
  • L’amniocentesi/villocentesi genomica ovvero la NGPD (detta impropriamente “superamnio o villocentesi) aggiunge, alle due, lo studio di tutti i micro difetti dei cromosomi (microdelezioni e microduplicazioni) e centinaia delle anomalie dell’esoma (quelle alterazioni di geni che determinano sindromi anche devastanti).

Ancora più esemplificativo sulle odierne potenzialità dei test prenatali genomici (NGPD) è il seguente grafico :

ngpd tabella grafico 4

Cosa indagare?

Prendiamo in considerazione tra tutti i difetti congeniti (ad un anno di vita) solo le malattie genetiche (anomalie cromosomiche grossolane o numeriche, microdelezioni, micro duplicazioni, malattie monogeniche siano esse dominanti, recessive o legate al sesso ecc), ed escludiamo quelle infettive, tossiche ecc.. . Sappiamo già che il numero si riduce al 6% dei nati (60 su 1.000 ). Considerando, in percentuale, le malattie genetiche e facendo un raffronto con l’amniocentesi (o villocentesi) tradizionali vediamo che la differenza di informazione è impressionante.

Differenze

L’Amniocentesi (o villocentesi) tradizionale indaga solo le anomalie cromosomiche grossolane o numeriche; mentre la Amniocentesi (o villocentesi genomica) va ad esplorare all’interno del DNA ricercando nella gran parte delle altre anomalie. L’amniocentesi tradizionale svela solo il 5% dei portatori di anomalie genetiche. Se includiamo le malattie genetiche più frequenti andiamo al 7%, se includiamo tutto quello che si può, lecitamente ed eticamente, indagare, con la amniocentesi o villocentesi NGPD arriviamo a conoscere l’80% di tutte le malattie genetiche di cui un feto può essere affetto.

Cosa non si indaga?

Il restante 20% attiene a malattie estremamente rare la cui origine genetica e dubbia o sconosciuta, oppure per le quali non ci è “eticamente” permesso di indagare. Si premette che la NGPD non studierà gli SNP, i cosiddetti polimorfismi di suscettibilità, cioè quelle varianti geniche che ci rendono suscettibili a qualsiasi malattia e soprattutto al cancro. Queste indagini vengono escluse dalla NGPD. Per chiarire, praticamente, le potenzialità ed i confini della NGPD si leggano le seguenti domande e risposte:

 

Domande frequenti:

Se si esegue la NGPD allora si può essere certi, fin dalla villo o amniocentesi che il feto è sano?
Ebbene si. Per quanto riguarda tutte le malattie geneticamente studiate (che sono la stragrande maggioranza delle anomalie) si può dire di si. Per semplificare, se in Italia tutte le donne eseguissero la NGPD, su circa 600.000 nuovi nati in un anno, solo poche decine di feti con malformazione genetica, sfuggirebbero alla diagnosi. Infatti benché si studino pochi centinaia di geni (rispetto ai 19.000 astrattamente studiabili con le tecniche oggi in uso), questi rappresentano i geni che più frequentemente risultano alterati. In tal modo si arrivano a diagnosticare tutte le malattie che hanno un’incidenza di 1/50.000 nati.

Quali sono le malattie congenite che sfuggono alla nuova NGPD?
Sono malattie rarissime con frequenze superiori a 1/50.000 come ad esempio le malattie da telomeri per la cui rarità non sono neanche studiati sulla popolazione generale.

E’ possibile con le tecniche utilizzate studiare tutto l’esoma?
Si. E’ possibile e facilmente attuabile, ma non è eticamente e moralmente ammissibile. Ci si limita pertanto ad esaminare ciò che correla una problematica clinica precisa, descritta in letteratura come “mutazione genetica responsabile di malattia nota”. Molte di queste informazioni aiuteranno i genitori ed i medici ad intervenire prontamente alla nascita per migliorare la qualità di vita del feto affetto.

Se si esegue la NGPD allora si può evitare di eseguire l’ecografia morfologica?
Certamente no. Ma solo perché esistono una serie di altre cause di malformazione fetale. Si dica però subito che queste altre cause non sono numerose. Rimangono quelle infettive, le patologie legate alla banda amniotica, a problemi contingenti tossici ed ambientali le quali possono determinare deformità, più che malformazioni. Poi ci sono tutti i problemi di crescita in utero. L’ecografia rimane fondamentale per il benessere e l’accrescimento oltre che la gestione clinica della gestazione ma la possibilità di trovare, nel corso della gravidanza, “brutte sorprese” (ad esempio un nanismo o una patologia cerebrale a manifestazione tardiva) è quasi da escludere.

Come può la NGPD aiutare la gestione della gravidanza?
Le informazioni che fornisce la NGPD possono essere di guida per l’ostetrico, sia nella fase diagnostica della gravidanza che al momento del parto. Facciamo l’esempio di un feto che presenta, già dallo studio dei villi coriali, a 11 settimane, un difetto genetico per cardiopatia congenita; in questo caso il ginecologo seguirà con attenzione lo sviluppo del cuoricino onde studiare con maggiore attenzione il tipo e la gravità della malformazione cardiaca derivante dal messaggio genetico alterato, che come sappiamo, può esprimersi in misura diversa da casa a caso. Infatti l’anomalia genetica riscontrata può determinate forme e gravità diverse di cardiopatie, in tal modo si potrà indirizzare meglio la diagnosi prenatale e l’assistenza al parto.

Cosa prevede la NGPD?
Prevede lo studio del cariotipo fetale, affiancato alle moderne tecniche di citogenetica molecolare (array-CGH) e di biologia molecolare (Next Generation Sequencing), che ci consentirà di ridurre il rischio che il feto sia affetto da una specifica patologia genetica come nessun altra indagine prenatale ha potuto e può fare. Le anomalie genetiche più frequenti verranno studiate ed escluse, le eventuali alterazioni individuate saranno valutate e illustrate in sede di consulenza genetica alla gestante. La residua possibilità di avere un figlio con problemi genetici resta legata a forme patologiche rarissime e a difetti multifattoriali; a volte non determinabili con certezza neanche dopo la nascita. Ovviamente si deve essere consapevoli che la natura potrebbe creare, occasionalmente, una nuova mutazione oggi non ancora conosciuta e questo purtroppo non potrà essere diagnosticata come patologica fino a quando gli studi scientifici su questa nuova mutazione non abbiano stabilito una correlazione clinica precisa.

 

Elenco patologie geni e mutazioni nella NGPD

Elenco patologie geni e mutazioni nella NGPD, la seguente tabella riporta l’elenco di migliaia di mutazioni geniche ritenute, ad oggi, sicuramente responsabili dei disordini sindromici riportati nella prima colonna.

La validità diagnostica, i limiti e l’applicabilità nella clinica prenatale della NGPD, risiede esclusivamente nella corretta “targetizzazione” della procedura diagnostica utilizzata.

Questo vuol dire che:

  • L’elenco delle mutazioni responsabili delle malattie genetiche ricercate deve essere individuato con assoluta precisione non includendo o, addirittura escludendo, tutte le varianti geniche per le quali non vi è certezza di correlazione patogenetica, per le quali non vi è univocità di significato.
  • La targetizzazione esclude tutte le mutazioni geniche per le quali non vi è eticamente la giustificazione di ricercare (suscettibilità, polimorfismi, ecc).
  • La targetizzazione è un processo dinamico che si modifica a seconda dell’evoluzione e delle conoscenze genetiche e riflette, quindi, lo stato “consolidato” dell’Arte;
  • La targetizzazione può mutare da nazione a nazione in funzione dell’interesse geografico per alcune mutazioni. Può variare da laboratorio a laboratorio in considerazione della tecnologia utilizzata. Può variare in relazione alle convinzioni giuridiche ed etiche nel luogo in cui si esegue l’esame.

Come ben specificato nei consensi informati vengono individuate esclusivamente le anomalie genetiche derivanti da mutazioni oggi ritenute responsabili delle sindromi riportate nella prima colonna .

Si tratta di migliaia di mutazioni di sicuro significato patologico. Deve essere chiarito e ribadito che eventuali nuove anomalie non ancora conosciute dalla scienza medica o in fase di studio, o per le quali non vi è convalidata certezza di una correlazione clinica specifica, nota, descritta, e categorizzata, non verranno diagnosticate a priori per non ingenerare dubbi e sospetti privi di fondamento clinico.

Elenco targettizzato ed aggiornato al 22/07/2014 ore 10:15

DISORDINE Gene

Mutazioni indagate

(l’esito e’ riportato nella risposta)

Achondrogenesis Ia TRIP11 W1224*
c.790C>T (p.Arg264Ter)
Arg1028Term
Gln1160Term
Arg1167Term
c.2102A>G (p.Asn701Ser)
Achondrogenesis Ib SLC26A2 c.2033G>T (p.Gly678Val)
c.1273A>G (p.Asn425Asp)
c.1020_1022delTGT (p.Val341del)
c.532C>T (p.Arg178Ter)
c.532C>T (p.Arg178Ter)
c.835C>T (p.Arg279Trp)
c.835C>T (p.Arg279Trp)
c.835C>T (p.Arg279Trp)
Achondrogenesis II COL2A1 c.1637G>T (p.Gly546Val)
c.1547G>A (p.Gly516Asp)
c.2671G>C (p.Gly891Arg)
c.2905G>A (p.Gly969Ser)
Acondroplasia FGFR3 c.835A>T (p.Ser279Cys)
c.1138G>A (p.Gly380Arg)
c.1949A>T (p.Lys650Met)
c.1123G>T (p.Gly375Cys)
c.1138G>A (p.Gly380Arg)
Aicardi-Goutieres Syndrome ADAR c.1730T>C (p.Ile577Thr)
c.2112G>T (p.Lys704Asn)
c.2450A>T (p.Tyr817Phe)
c.2452G>C (p.Asp818His)
c.1723G>A (p.Ala575Thr)
c.1790G>A (p.Arg597His)
c.577C>G (p.Pro193Ala)
c.191_195delAGCGA (p.Lys64Argfs)
TREX1 c.763G>A (p.Asp255Asn)
c.767T>A (p.Val256Asp)
c.764_766dup (p.Asp255dup)
c.655C>T (p.Arg219Ter)
ADAR c.2134G>A (p.Gly712Arg)
RNASEH2A c.556C>T (p.Arg186Trp)
SAMHD1 c.427C>T (p.Arg143Cys)
c.760A>G (p.Met254Val)
c.368A>C (p.His123Pro)
c.1642C>T (p.Gln548Ter)
c.445C>T (p.Gln149Ter)
c.490C>T (p.Arg164Ter)
c.625G>A (p.Gly209Ser)
RNASEH2B c.554T>G (p.Val185Gly)
RNASEH2B c.529G>A (p.Ala177Thr)
RNASEH2C c.428A>T (p.Lys143Ile)
TREX1 c.217G>A (p.Asp73Asn)
RNASEH2A c.635A>T (p.Asn212Ile)
c.704G>A (p.Arg235Gln)
c.75C>T (p.Arg25=)
SAMHD1 c.602T>A (p.Ile201Asn)
c.433C>T (p.Arg145Ter)
RNASEH2C c.205C>T (p.Arg69Trp)
TREX1 c.506G>A (p.Arg169His)
RNASEH2A c.69G>A (p.Val23=)
c.109G>A (p.Gly37Ser)
ADAR c.2134G>A (p.Gly712Arg)
TREX1 c.217G>A (p.Asp73Asn)
Alpha talassemia HBA1 Met1Val
Trp15Term
Met33Lys
Leu107Pro
Pro120Ser
Ala124Pro
Leu130Pro
HBA2 c.69C>T (p.Gly23Gly=)
c.*92A>G
c.96-2A>G
c.186G>C (p.Lys62Asn)
c.70G>T (p.Glu24Ter)
c.349G>T (p.Glu117Ter)
c.2T>C (p.Met1Thr)
c.92+6T>C
c.92+5G>C
c.92+1G>A
c.59A>G (p.Asn20Ser)
c.52A>T (p.Lys18Ter)
c.316-2A>G
c.316-2A>C
c.315+1G>A
c.135delC (p.Ser45Ser=fs)
c.118C>T (p.Gln40Ter)
c.-50-86C>G
c.126_129delCTTT (p.Phe42Leufs*19)
c.27dupG (p.Ser10Valfs*14)
c.-50-29A>G
c.316-197C>T
Beta talassemia HBB C112R
c.*112A>G
c.-50-86C>G
c.-50-92C>T
c.2T>G (p.Met1Arg)
c.216dupT (p.Phe72delinsPheTerfs)
c.328delG (p.Val110Cysfs)
c.36delT (p.Val12Val=fs)
c.383A>C (p.Gln128Pro)
c.79_80insT (p.Glu27delinsValGlyfs)
c.217_221delAGTGAinsT (p.Ser73_Asp74delinsLeufs)
c.4G>T (p.Val2Leu)
c.93_94insCGG (p.Arg31_Leu32delinsArgArgLeu)
c.271G>T (p.Glu91Ter)
c.-82C>A
c.*111A>G
c.-50-28A>C
c.92+6T>C
c.93-1G>A
c.92+1G>T
c.92+1G>A
c.84_85insC (p.Ala28_Leu29delinsAlaProGlyfs)
c.283_284insTG (p.Asp95delinsValThrfs)
c.45_46insG (p.Leu15_Trp16delinsLeuValGlyfs)
c.343_344delCTinsG (p.Leu115Glyfs)
c.108delC (p.Tyr36Tyr=fs)
c.17_18delCT (p.Pro6Argfs)
c.135delC (p.Ser45Ser=fs)
c.51delC (p.Gly17Gly=fs)
c.321_322insG (p.Leu107_Gly108delinsLeuGlyGlnfs)
c.383_385delAGG (p.Gln128_Ala129delinsPro)
c.108C>A (p.Tyr36Ter)
c.184A>T (p.Lys62Ter)
c.130G>T (p.Glu44Ter)
c.114G>A (p.Trp38Ter)
c.59A>G (p.Asn20Ser)
c.59A>G (p.Asn20Ser)
c.127_129delTTT (p.Phe43del)
c.315G>C (p.Arg105Ser)
c.3G>A (p.Met1Ile)
c.4delG (p.Val2Cysfs)
c.*113A>G
c.-81A>G
c.92+5G>C
c.193delG (p.Gly65Alafs)
c.114_120delGACCCAG (p.Trp38_Gln40delinsTerfs)
c.230delC (p.Ala77Valfs)
c.216_217insA (p.Phe72_Ser73delinsPheLysTerfs)
c.47G>A (p.Trp16Ter)
c.385_388delGCTGinsCCACA (p.Ala129_Ala130delinsProHisLeufs)
c.27dupG (p.Ser10Valfs*14)
c.118C>T (p.Gln40Ter)
c.203_204delTG (p.Val68Alafs)
c.201delA (p.Lys67Lys=fs)
c.92+6T>C
c.92+5G>C
c.92+1G>A
c.59A>G (p.Asn20Ser)
c.52A>T (p.Lys18Ter)
c.316-2A>G
c.316-2A>C
c.315+1G>A
c.135delC (p.Ser45Ser=fs)
c.118C>T (p.Gln40Ter)
c.-50-86C>G
c.20delA (p.Glu7Glyfs)
c.126_129delCTTT (p.Phe42Leufs*19)
c.-137C>T
c.-50-101C>T
c.112delT (p.Trp38Glyfs)
c.364G>T (p.Glu122Ter)
c.52A>T (p.Lys18Ter)
c.128T>C (p.Phe43Ser)
c.-136C>T
c.19_20delGAinsAT (p.Glu7Met)
c.27dupG (p.Ser10Valfs*14)
c.116_117delCC (p.Thr39Thr=fs)
c.93G>T (p.Arg31Ser)
c.82G>T (p.Ala28Ser)
c.82G>T (p.Ala28Ser)
c.126_129delCTTT (p.Phe42Leufs*19)
c.-50-86C>G
c.-50-29A>G
c.143_144insA (p.Asp48delinsGluSerfs)
c.315+1G>A
c.316-146T>G
c.27dupG (p.Ser10Valfs*14)
c.-50-29A>G
c.287dupA (p.Leu97Alafs*6)
c.-137C>A
c.-50-29A>G
c.316-197C>T
c.316-197C>T
c.316-197C>T
c.-80T>A
c.295G>A (p.Val99Met)
c.-50-87C>G
c.75T>A (p.Gly25=)
c.*110T>C
c.92G>A (p.Arg31Lys)
c.-50-87C>G
c.93-21G>A
c.251delG (p.Gly84Alafs)
c.75T>A (p.Gly25=)
c.316-3C>A
c.-80T>A
c.-140C>T
c.93-21G>A
c.316-3C>A
c.93-21G>A
c.-50A>C
c.-50-88C>T
c.79G>A (p.Glu27Lys)
c.79G>A (p.Glu27Lys)
c.79G>A (p.Glu27Lys)
c.93-3T>G
c.-50-88C>T
c.92+2T>C
c.92+5G>A
c.2T>C (p.Met1Thr)
c.2T>C (p.Met1Thr)
c.-50-88C>T
c.75T>A (p.Gly25=)
c.-50-28A>G
c.2T>C (p.Met1Thr)
c.92+5G>T
c.92+5G>T
c.25_26delAA (p.Lys9Valfs)
c.-50-28A>G
c.316-14T>G
c.-50-28A>G
c.25_26delAA (p.Lys9Valfs)
c.92+5G>A
c.25_26delAA (p.Lys9Valfs)
c.316-106C>G
c.316-106C>G
c.20A>T (p.Glu7Val)
c.316-106C>G
Ambiguous genitalia SOX9 c.472G>A (p.Ala158Thr)
c.227C>A (p.Ala76Glu)
c.493C>T (p.His165Tyr)
c.517A>G (p.Lys173Glu)
c.1320C>G (p.Tyr440Ter)
c.1320C>A (p.Tyr440Ter)
c.462C>G (p.Phe154Leu)
c.1320C>G (p.Tyr440Ter)
WT1 c.1282C>T (p.His428Tyr)
c.1250G>A (p.Arg417His)
c.1339G>A (p.Asp447Asn)
c.1339G>A (p.Asp447Asn)
c.1333C>T (p.Arg445Trp)
c.1333C>T (p.Arg445Trp)
c.1333C>T (p.Arg445Trp)
DAX1 c.315G>C (p.Trp105Cys)
c.109C>T (p.Gln37Ter)
c.890T>C (p.Leu297Pro)
c.1197C>A (p.Tyr399Ter)
c.1138T>G (p.Tyr380Asp)
c.1316T>G (p.Ile439Ser)
c.1183C>T (p.Gln395Ter)
c.1142T>A (p.Leu381His)
c.800G>C (p.Arg267Pro)
c.1319A>T (p.Asn440Ile)
WNT4 c.647A>G (p.Glu216Gly)
c.35T>C (p.Leu12Pro)
c.247C>T (p.Arg83Trp)
c.341C>T (p.Ala114Val)
Androgen insensitivity s. AR R773C
c.2231G>A (p.Gly744Glu)
c.2231G>T (p.Gly744Val)
c.1748T>A (p.Phe583Tyr)
c.2033T>C (p.Leu678Pro)
c.2343G>T (p.Met781Ile)
c.2521C>T (p.Arg841Cys)
c.2596T>C (p.Ser866Pro)
c.1732G>A (p.Gly578Arg)
c.2137C>T (p.Leu713Phe)
c.2667C>T (p.Ser889=)
c.2571C>G (p.Phe857Leu)
c.1937C>A (p.Ala646Asp)
R846H
c.4G>A (p.Glu2Lys)
c.2599G>T (p.Val867Leu)
c.521T>G (p.Leu174Ter)
c.2222C>G (p.Ser741Cys)
c.2423T>C (p.Met808Thr)
c.2231G>T (p.Gly744Val)
c.1823G>A (p.Arg608Gln)
c.2395C>G (p.Gln799Glu)
Angelman UBE3A c.389T>C (p.Ile130Thr)
c.316A>C (p.Thr106Pro)
c.2304G>A (p.Trp768Ter)
c.1249C>T (p.Arg417Ter)
Apert FGFR2 Ser252Trp
Pro253Arg
Ataxia telangectasia ATM c.6200C>A (p.Ala2067Asp)
c.7268A>G (p.Glu2423Gly)
c.9139C>T (p.Arg3047Ter)
c.7967T>C (p.Leu2656Pro)
c.8480T>G (p.Phe2827Cys)
c.8030A>G (p.Tyr2677Cys)
c.7271T>G (p.Val2424Gly)
c.103C>T (p.Arg35Ter)
c.7327C>T (p.Arg2443Ter)
c.7875_7876delTGinsGC (p.Asp2625_Ala2626delinsGluPro)
Beckwith wiedemann CDKN1C c.845C>A (p.Ser282Ter)
c.845C>G (p.Ser282Ter)
c.740C>A (p.Ser247Ter)
c.310_311delCTinsG (p.Leu104Glyfs)
c.139C>T (p.Gln47Ter)
H19 H19, 5.3-KB DEL
H19, 1.8-KB DEL
Brugada syndrome type 1 SCN5A c.4187delA (p.Lys1396Argfs)
c.4259G>A (p.Trp1420Ter)
c.2204C>T (p.Ala735Val)
c.5382_5384dupTGA (p.Tyr1794_Glu1795insAsp)
c.3781G>A (p.Gly1261Ser)
c.5380T>C (p.Tyr1794His)
c.3157G>A (p.Glu1053Lys)
c.5767G>A (p.Ala1923Thr)
c.1100G>A (p.Arg367His)
c.4219G>A (p.Gly1407Arg)
c.4531C>T (p.Arg1511Trp)
c.5347G>A (p.Glu1783Lys)
c.3575G>A (p.Arg1192Gln)
NM_000335.4:c.611+3_611+4dupAA
c.694G>A (p.Val232Ile)
c.3691C>T (p.Arg1231Trp)
c.5382_5384dupTGA (p.Tyr1794_Glu1795insAsp)
c.5126C>T (p.Ser1709Leu)
c.3157G>A (p.Glu1053Lys)
c.4219G>A (p.Gly1407Arg)
SCN3B c.29T>C (p.Leu10Pro)
GPD1L c.839C>T (p.Ala280Val)
CARDIOMYOPATHY ABCC9 c.4537G>A (p.Ala1513Thr)
ACTC1 c.-22-15C>G
c.373A>G (p.Met125Val)
c.214_230del17 (p.Pro72_Ile77delinsHisfs)
c.1088A>G (p.Glu363Gly)
c.941G>A (p.Arg314His)
c.67T>C (p.Phe23Leu)
c.553C>T (p.Arg185Trp)
c.496C>G (p.Pro166Ala)
c.997G>C (p.Ala333Pro)
c.268C>T (p.His90Tyr)
c.889G>T (p.Ala297Ser)
c.301G>A (p.Glu101Lys)
c.301G>A (p.Glu101Lys)
c.301G>A (p.Glu101Lys)
ACTN2 c.26A>G (p.Gln9Arg)
CALR3 c.245A>G (p.Lys82Arg)
CAV3 c.99C>G (p.Asn33Lys)
c.191C>G (p.Thr64Ser)
c.236T>G (p.Leu79Arg)
c.40G>C (p.Val14Leu)
c.253G>A (p.Ala85Thr)
c.423C>G (p.Ser141Arg)
c.233C>T (p.Thr78Met)
c.233C>T (p.Thr78Met)
c.80G>A (p.Arg27Gln)
CSRP3 c.365G>A (p.Arg122Gln)
c.136A>C (p.Ser46Arg)
c.206A>G (p.Lys69Arg)
c.131T>C (p.Leu44Pro)
c.160_164delTCGGAinsAGGGG (p.SerGlu54_55delinsArgGly)
c.172T>G (p.Cys58Gly)
c.10T>C (p.Trp4Arg)
DES DES, GLU359-ALA360-SER361 DEL
c.735+1G>A
c.1325C>T (p.Thr442Ile)
c.1096_1098delAAC (p.Asn366del)
c.1166A>C (p.Gln389Pro)
c.1154T>C (p.Leu385Pro)
c.1216C>T (p.Arg406Trp)
c.1353C>G (p.Ile451Met)
c.1178A>T (p.Asn393Ile)
c.38C>T (p.Ser13Phe)
c.1255C>T (p.Pro419Ser)
c.1034T>C (p.Leu345Pro)
c.1078G>C (p.Ala360Pro)
c.1009G>C (p.Ala337Pro)
c.517_537del21 (p.Arg173_Glu179del)
DSG2 c.877A>T (p.Ile293Leu)
c.2647T>C (p.Ser883Pro)
c.941C>A (p.Ser314Ter)
c.523+2T>C
c.3061_3062delAG (p.Ser1021Leufs)
c.2434G>T (p.Gly812Cys)
c.1880-2A>G
c.1773_1774delTG (p.Cys591_Glu592delinsTerValfs)
c.146G>A (p.Arg49His)
c.137G>A (p.Arg46Gln)
c.1880-2A>G
c.797A>G (p.Asn266Ser)
c.2434G>T (p.Gly812Cys)
c.1520G>A (p.Cys507Tyr)
c.137G>A (p.Arg46Gln)
c.146G>A (p.Arg49His)
c.166G>A (p.Val56Met)
c.918G>A (p.Trp306Ter)
c.1174G>A (p.Val392Ile)
c.991G>A (p.Glu331Lys)
c.991G>A (p.Glu331Lys)
DTNA c.362C>T (p.Pro121Leu)
FKTN c.536G>C (p.Arg179Thr)
c.1073A>C (p.Gln358Pro)
JPH2 S101R
c.1513G>A (p.Gly505Ser)
c.1513G>A (p.Gly505Ser)
c.494C>T (p.Ser165Phe)
c.421T>C (p.Tyr141His)
c.1538T>G (p.Phe513Cys)
LAMP2 c.463delA (p.Ser155Valfs)
c.865-1G>C
c.463delA (p.Ser155Valfs)
c.65-2A>G
c.293G>A (p.Trp98Ter)
c.217_218insA (p.Thr73delinsAsnIlefs)
c.191delT (p.Val64Glufs)
c.183T>G (p.Tyr61Ter)
c.183T>A (p.Tyr61Ter)
c.928G>A (p.Val310Ile)
c.864+3_864+6delGAGT
LDB3 c.349G>A (p.Asp117Asn)
c.617C>T (p.Thr206Ile)
c.566C>T (p.Ser189Leu)
c.440C>T (p.Ala147Val)
c.2017G>A (p.Asp673Asn)
c.383A>T (p.Lys128Met)
c.1035C>G (p.Ile345Met)
c.802C>T (p.Arg268Cys)
c.494C>T (p.Ala165Val)
c.494C>T (p.Ala165Val)
c.2017G>A (p.Asp673Asn)
c.439G>A (p.Ala147Thr)
c.2092G>A (p.Ala698Thr)
c.1051A>G (p.Thr351Ala)
c.2092G>A (p.Ala698Thr)
LMNA c.674G>A (p.Arg225Gln)
c.664C>T (p.His222Tyr)
c.176T>G (p.Leu59Arg)
c.959delT (p.Arg321Glufs*159)
c.1589T>C (p.Leu530Pro)
c.1357C>T (p.Arg453Trp)
c.961C>T (p.Arg321Ter)
c.958delC (p.Leu320Phefs)
c.799T>C (p.Tyr267His)
c.673C>T (p.Arg225Ter)
c.607G>A (p.Glu203Lys)
c.481G>A (p.Glu161Lys)
c.348_349insG (p.Leu116_Lys117delinsLeuGluSerfs)
c.16C>T (p.Gln6Ter)
c.1445G>A (p.Arg482Gln)
c.992G>A (p.Arg331Gln)
c.976T>A (p.Ser326Thr)
c.949G>A (p.Glu317Lys)
c.863C>G (p.Ala288Gly)
c.781_783delAAG (p.Lys261del)
c.763delC (p.Gln255Argfs)
c.749C>T (p.Ala250Val)
c.700C>T (p.Gln234Ter)
c.629T>G (p.Ile210Ser)
c.513+1G>C
c.485T>C (p.Leu162Pro)
c.448A>C (p.Thr150Pro)
c.356G>C (p.Arg119Pro)
c.1621C>T (p.Arg541Cys)
c.154C>G (p.Leu52Val)
c.1526dupC (p.Thr510Tyrfs*42)
c.1442A>G (p.Tyr481Cys)
c.1146C>T (p.Gly382Gly=)
c.1129C>T (p.Arg377Cys)
c.1112_1115dupTGGA (p.Glu372delinsAspGlyAspfs)
c.1111_1125delATGGAGATCCACGCC
(p.Met371_Ala375del)
c.1106T>C (p.Leu369Pro)
c.1072G>A (p.Glu358Lys)
c.398G>C (p.Arg133Pro)
c.1580G>C (p.Arg527Pro)
c.16C>T (p.Gln6Ter)
c.169G>C (p.Ala57Pro)
c.673C>T (p.Arg225Ter)
c.644T>C (p.Leu215Pro)
c.607G>A (p.Glu203Lys)
c.1003C>T (p.Arg335Trp)
c.1621C>G (p.Arg541Gly)
c.481G>A (p.Glu161Lys)
c.608A>G (p.Glu203Gly)
c.254T>G (p.Leu85Arg)
c.178C>G (p.Arg60Gly)
c.1718C>T (p.Ser573Leu)
c.959delT (p.Arg321Glufs*159)
c.1711C>A (p.Arg571Ser)
c.1130G>A (p.Arg377His)
c.585C>G (p.Asn195Lys)
c.1412G>A (p.Arg471His)
c.178C>G (p.Arg60Gly)
MIOZ2 ND
MYBPC3 c.984_1054del (p.Pro329_Leu352delinsGlnfs)
c.927-9G>A
c.927-2A>G
c.913_914delTT (p.Phe305Profs)
c.821+2T>C
c.772G>A (p.Glu258Lys)
c.821+1G>A
c.772+1G>A
c.655-1G>A
c.613C>T (p.Gln205Ter)
c.540_559del (p.Ala181_Pro187delinsCysfs)
c.506-2A>C
c.506-1G>T
c.459delC (p.Ile154Leufs)
c.436_437insA (p.Thr146delinsAsnProfs)
c.431_432delGT (p.Gly144Alafs)
c.3811C>T (p.Arg1271Ter)
c.3697C>T (p.Gln1233Ter)
c.3694A>T (p.Lys1232Ter)
c.362delC (p.Pro121Argfs)
c.3627+1G>A
c.3624delC (p.Lys1209Serfs)
c.3624_3625insC (p.Lys1209delinsGlnAlafs)
c.350delC (p.Pro117Leufs)
c.3491-2A>T
c.3490+1G>A
c.3476_3479dupTTAT (p.Pro1161delinsTyrProfs)
c.3330+5G>C
c.3330+2T>G
c.3297_3298insG (p.Tyr1100delinsValHisfs)
c.3293G>A (p.Trp1098Ter)
c.3286G>T (p.Glu1096Ter)
c.3253G>T (p.Glu1085Ter)
c.3226_3227insT (p.Asp1076delinsValArgfs)
c.3192_3193insC (p.Lys1065delinsGlnAlafs)
c.3233G>A (p.Trp1078Ter)
c.3190+2T>G
c.3181C>T (p.Gln1061Ter)
c.3068_3069insA (p.Asn1023delinsLysGlnfs)
c.3040delC (p.Leu1014Trpfs)
c.2943_2947delGACCA (p.Gln981_Ile983delinsHisSerfs)
c.2905C>T (p.Gln969Ter)
c.2905+1G>C
c.2905+1G>A
c.2864_2865delCT (p.Pro955Argfs)
c.2833_2834delCG (p.Arg945Glyfs)
c.2827C>T (p.Arg943Ter)
c.2670G>A (p.Trp890Ter)
c.2610_2611insC (p.Ser871delinsGlnArgfs)
c.26-2A>G
c.2558delG (p.Gly853Alafs)
c.2556_2557delCGinsTCT (p.Gly853delinsLeuHisfs)
c.2541C>G (p.Tyr847Ter)
c.2534_2538delGCGTC (p.Arg845_Val846delinsLeufs)
c.2524_2525insT (p.Tyr842delinsLeuArgfs)
c.2490_2491insT (p.His831delinsSerTerfs)
c.2454G>A (p.Trp818Ter)
c.2373_2374insG (p.Trp792delinsValGlyfs)
c.2311_2312insG (p.Val771delinsGlyAlafs)
c.2309-2A>G
c.2308+1G>T
c.2308+1G>A
c.2182G>T (p.Glu728Ter)
c.2163delC (p.Glu722Argfs)
c.2113_2114insA (p.Thr705delinsAsnArgfs)
c.2096delC (p.Pro699Glnfs)
c.2040_2041insT (p.Val681delinsCysAspfs)
c.2013_2016delCCCTinsGG (p.Pro672Aspfs)
c.2048G>A (p.Trp683Ter)
c.1928-2A>G
c.1897+1G>A
c.1895delT (p.Met632Argfs)
c.1892delT (p.Phe631Serfs)
c.1863delC (p.Phe621Leufs)
c.1800delA (p.Lys600Asnfs)
c.177_187del (p.Glu60_Arg63delinsAlafs)
c.1693A>T (p.Lys565Ter)
c.1624G>C (p.Glu542Gln)
c.1575T>G (p.Tyr525Ter)
c.1505G>A (p.Arg502Gln)
c.1504C>T (p.Arg502Trp)
c.1458-1G>A
c.1351+2T>C
c.1310delT (p.Val437Glyfs)
c.1273C>T (p.Gln425Ter)
c.1235_1236delTT (p.Phe412Terfs)
c.1224-2A>G
c.1168delC (p.His390Metfs)
c.1156G>T (p.Glu386Ter)
c.529C>T (p.Arg177Cys)
c.2914C>T (p.Arg972Trp)
c.2537T>A (p.Val846Asp)
c.1544A>G (p.Asn515Ser)
c.927-10C>A
c.836G>C (p.Gly279Ala)
c.821+5G>A
c.710A>C (p.Tyr237Ser)
c.655G>C (p.Val219Leu)
c.551_552insT (p.Lys185Glufs)
c.3G>C (p.Met1Ile)
c.3815-1G>A
c.3797G>A (p.Cys1266Tyr)
c.3735delC (p.Phe1246Leufs)
c.3599T>C (p.Leu1200Pro)
c.3548T>G (p.Phe1183Cys)
c.3330+5G>T
c.2528_2536delAGATGCGCG (p.Glu843_Val846delinsVal)
c.1814_1816delACG (p.Asp605_Val606delinsVal)
c.1624+4A>T
c.1483C>G (p.Arg495Gly)
c.1456T>G (p.Trp486Gly)
c.1227-13G>A
c.3408C>A (p.Tyr1136Ter)
c.932C>A (p.Ser311Ter)
c.2618C>A (p.Pro873His)
c.3330+2T>G
c.175A>G (p.Thr59Ala)
c.1624G>C (p.Glu542Gln)
c.3373G>A (p.Val1125Met)
c.3330+5G>A
c.1469G>T (p.Gly490Val)
c.2827C>T (p.Arg943Ter)
c.2459G>A (p.Arg820Gln)
c.3286G>T (p.Glu1096Ter)
c.2870C>G (p.Thr957Ser)
c.2374T>C (p.Trp792Arg)
c.2497G>A (p.Ala833Thr)
c.2308G>A (p.Asp770Asn)
c.1321G>A (p.Glu441Lys)
c.1468G>A (p.Gly490Arg)
c.3791G>T (p.Cys1264Phe)
c.2843A>C (p.Asn948Thr)
c.2497G>A (p.Ala833Thr)
c.1468G>A (p.Gly490Arg)
MYH6 c.1753G>A (p.Gly585Ser)
c.4369G>A (p.Glu1457Lys)
c.3010G>T (p.Ala1004Ser)
c.2489C>T (p.Pro830Leu)
c.3195G>C (p.Gln1065His)
c.2384G>A (p.Arg795Gln)
MYH7 E743D
c.3781A>C (p.Ser1261Arg)
c.667G>A (p.Ala223Thr)
c.2292C>G (p.Phe764Leu)
c.1594T>C (p.Ser532Pro)
c.1925C>T (p.Ser642Leu)
c.767G>A (p.Gly256Glu)
c.746G>A (p.Arg249Gln)
c.438G>T (p.Lys146Asn)
c.4135G>A (p.Ala1379Thr)
c.2791_2793delGAG (p.Glu931del)
c.2788G>A (p.Glu930Lys)
c.2770G>A (p.Glu924Lys)
c.2722C>G (p.Leu908Val)
c.2744T>C (p.Leu915Pro)
c.2717A>G (p.Asp906Gly)
c.2609G>A (p.Arg870His)
c.2389G>A (p.Ala797Thr)
c.2221G>C (p.Gly741Arg)
c.2221G>A (p.Gly741Arg)
c.2167C>T (p.Arg723Cys)
c.2167C>G (p.Arg723Gly)
c.2156G>A (p.Arg719Gln)
c.2155C>T (p.Arg719Trp)
c.2146G>A (p.Gly716Arg)
c.1988G>A (p.Arg663His)
c.1816G>A (p.Val606Met)
c.1357C>T (p.Arg453Cys)
c.1208G>A (p.Arg403Gln)
c.1207C>T (p.Arg403Trp)
c.3337G>A (p.Ala1113Thr)
c.2652_2654delGAA (p.Lys884_Asn885delinsAsn)
c.2585C>T (p.Ala862Val)
c.991G>C (p.Ala331Pro)
c.968T>A (p.Ile323Asn)
c.872C>T (p.Ser291Phe)
c.788T>C (p.Ile263Thr)
c.734G>A (p.Gly245Glu)
c.715G>A (p.Asp239Asn)
c.602T>C (p.Ile201Thr)
c.5740G>A (p.Glu1914Lys)
c.5726G>C (p.Arg1909Pro)
c.5717C>G (p.Ala1906Gly)
c.560A>G (p.Asn187Ser)
c.5588G>A (p.Arg1863Gln)
c.5401G>A (p.Glu1801Lys)
c.5380C>G (p.Gln1794Glu)
c.5380C>A (p.Gln1794Lys)
c.5342G>A (p.Arg1781His)
c.5341C>T (p.Arg1781Cys)
c.5302G>A (p.Glu1768Lys)
c.5186_5188delAGA (p.Lys1729_Met1730delinsMet)
c.507A>T (p.Arg169Ser)
c.506G>A (p.Arg169Lys)
c.5015_5020delCCATCG (p.Ala1672_Val1674delinsVal)
c.49C>T (p.Arg17Cys)
c.4954G>T (p.Asp1652Tyr)
c.4900C>T (p.Arg1634Cys)
c.4720C>T (p.Arg1574Trp)
c.4522_4524delGAG (p.Glu1508del)
c.4487A>C (p.Glu1496Ala)
c.4348G>A (p.Asp1450Asn)
c.4276G>A (p.Glu1426Lys)
c.3856G>A (p.Glu1286Lys)
c.3578G>A (p.Arg1193His)
c.3464G>A (p.Gly1155Glu)
c.3455A>T (p.Glu1152Val)
c.343T>C (p.Tyr115His)
c.3134G>T (p.Arg1045Leu)
c.3083A>G (p.Glu1028Gly)
c.2711G>A (p.Arg904His)
c.2681A>G (p.Glu894Gly)
c.2623_2625delGAG (p.Glu875del)
c.2525G>A (p.Ser842Asn)
c.2513C>T (p.Pro838Leu)
c.2502C>G (p.Phe834Leu)
c.2348G>C (p.Arg783Pro)
c.2296A>C (p.Lys766Gln)
c.2285A>G (p.Lys762Arg)
c.2168G>A (p.Arg723His)
c.2123G>C (p.Gly708Ala)
c.2105T>A (p.Ile702Asn)
c.2093T>C (p.Val698Ala)
c.2069T>C (p.Met690Thr)
c.1987C>T (p.Arg663Cys)
c.1798C>T (p.Pro600Ser)
c.1791C>A (p.Asn597Lys)
c.1757T>C (p.Val586Ala)
c.1750G>C (p.Gly584Arg)
c.1750G>A (p.Gly584Ser)
c.1742A>G (p.His581Arg)
c.1700G>A (p.Arg567His)
c.1612T>C (p.Cys538Arg)
c.1598T>A (p.Ile533Asn)
c.1597A>G (p.Ile533Val)
c.1532T>C (p.Ile511Thr)
c.1491G>T (p.Glu497Asp)
c.1405G>T (p.Asp469Tyr)
c.1370T>C (p.Ile457Thr)
c.1358G>A (p.Arg453His)
c.1318G>A (p.Val440Met)
c.1273G>A (p.Gly425Arg)
c.1204C>A (p.Pro402Thr)
c.1106G>A (p.Arg369Gln)
c.5135G>A (p.Arg1712Gln)
c.1207C>T (p.Arg403Trp)
c.3981C>A (p.Asn1327Lys)
c.1357C>A (p.Arg453Ser)
c.1491G>T (p.Glu497Asp)
c.2609G>A (p.Arg870His)
c.5134C>T (p.Arg1712Trp)
c.2803G>A (p.Glu935Lys)
c.2146G>A (p.Gly716Arg)
c.1208G>T (p.Arg403Leu)
c.2333A>G (p.Asp778Gly)
c.767G>A (p.Gly256Glu)
c.2221G>C (p.Gly741Arg)
c.2722C>G (p.Leu908Val)
c.2167C>T (p.Arg723Cys)
c.2845G>A (p.Glu949Lys)
c.2770G>A (p.Glu924Lys)
c.1750G>C (p.Gly584Arg)
c.746G>A (p.Arg249Gln)
c.2183C>T (p.Ala728Val)
c.1046T>C (p.Met349Thr)
c.2717A>G (p.Asp906Gly)
c.5647G>A (p.Glu1883Lys)
c.1447G>A (p.Glu483Lys)
c.2156G>A (p.Arg719Gln)
c.2155C>T (p.Arg719Trp)
c.1538T>G (p.Phe513Cys)
c.1816G>A (p.Val606Met)
c.1357C>T (p.Arg453Cys)
c.728G>A (p.Arg243His)
c.5378T>C (p.Leu1793Pro)
c.1208G>A (p.Arg403Gln)
c.5533C>T (p.Arg1845Trp)
N1918K
c.5647G>A (p.Glu1883Lys)
c.728G>A (p.Arg243His)
c.5378T>C (p.Leu1793Pro)
c.5378T>C (p.Leu1793Pro)
c.5533C>T (p.Arg1845Trp)
MYL2 c.283C>G (p.Pro95Ala)
c.52T>C (p.Phe18Leu)
c.37G>A (p.Ala13Thr)
c.64G>A (p.Glu22Lys)
c.359G>A (p.Arg120Gln)
c.80A>G (p.Gln27Arg)
c.488A>C (p.Glu163Ala)
c.485G>A (p.Gly162Glu)
c.401A>C (p.Glu134Ala)
c.260G>C (p.Gly87Ala)
c.193G>A (p.Glu65Lys)
c.170G>A (p.Gly57Glu)
c.173G>A (p.Arg58Gln)
c.173G>A (p.Arg58Gln)
c.427G>A (p.Glu143Lys)
MYL3 c.461G>A (p.Arg154His)
c.427G>A (p.Glu143Lys)
c.445A>G (p.Met149Val)
c.530A>G (p.Glu177Gly)
c.281G>A (p.Arg94His)
MYLK2 c.595A>G (p.Ile199Val)
c.260C>T (p.Ala87Val)
c.284C>A (p.Ala95Glu)
c.430C>G (p.Pro144Ala)
E743D
NEXN c.835C>T (p.Arg279Cys)
c.391C>G (p.Gln131Glu)
c.1831C>A (p.Pro611Thr)
c.1955A>G (p.Tyr652Cys)
PLN c.40_42delAGA (p.Arg14del)
c.25C>T (p.Arg9Cys)
c.116T>G (p.Leu39Ter)
c.116T>G (p.Leu39Ter)
PRKAG2 c.879C>A (p.Phe293Leu)
c.298G>A (p.Gly100Ser)
c.905G>A (p.Arg302Gln)
c.1592G>A (p.Arg531Gln)
c.967T>A (p.Phe323Ile)
c.1390G>A (p.Asp464Asn)
c.1199C>A (p.Thr400Asn)
c.1642T>C (p.Ser548Pro)
c.1516G>C (p.Glu506Gln)
c.1589A>G (p.His530Arg)
c.1459T>C (p.Tyr487His)
c.1148A>G (p.His383Arg)
c.1199C>A (p.Thr400Asn)
c.1463A>T (p.Asn488Ile)
c.905G>A (p.Arg302Gln)
PRKAG2 c.879C>A (p.Phe293Leu)
c.298G>A (p.Gly100Ser)
c.905G>A (p.Arg302Gln)
c.1592G>A (p.Arg531Gln)
c.967T>A (p.Phe323Ile)
c.1390G>A (p.Asp464Asn)
c.1199C>A (p.Thr400Asn)
c.1642T>C (p.Ser548Pro)
c.1516G>C (p.Glu506Gln)
c.1589A>G (p.His530Arg)
c.1459T>C (p.Tyr487His)
c.1148A>G (p.His383Arg)
c.1199C>A (p.Thr400Asn)
c.1463A>T (p.Asn488Ile)
c.905G>A (p.Arg302Gln)
PSEN2 c.389C>T (p.Ser130Leu)
RBM20 c.1909A>G (p.Ser637Gly)
c.1907G>A (p.Arg636His)
c.1906C>A (p.Arg636Ser)
c.1901G>A (p.Arg634Gln)
c.1913C>T (p.Pro638Leu)
c.1913C>T (p.Pro638Leu)
c.1907G>A (p.Arg636His)
c.1906C>A (p.Arg636Ser)
SCN5A c.665G>A (p.Arg222Gln)
c.665G>A (p.Arg222Gln)
c.2549_2550dupTG (p.Phe851Cysfs)
c.5504T>C (p.Ile1835Thr)
c.4780G>C (p.Asp1594His)
c.659C>T (p.Thr220Ile)
c.3820G>A (p.Asp1274Asn)
c.3305C>A (p.Ser1102Tyr)
c.3820G>A (p.Asp1274Asn)
c.3820G>A (p.Asp1274Asn)
SGCD c.451T>G (p.Ser151Ala)
SLC25A4 c.111+1G>A
c.368C>A (p.Ala123Asp)
TAZ c.718G>C (p.Gly240Arg)
c.823C>T (p.Gln275Ter)
c.700-1G>A
c.208C>T (p.Gln70Ter)
TCAP c.260G>A (p.Arg87Gln)
c.157C>T (p.Gln53Ter)
c.157C>T (p.Gln53Ter)
c.10T>C (p.Trp4Arg)
TMPO c.2068C>T (p.Arg690Cys)
TNNC1 c.476G>A (p.Gly159Asp)
c.91G>T (p.Ala31Ser)
c.435C>A (p.Asp145Glu)
c.251G>A (p.Cys84Tyr)
c.23C>T (p.Ala8Val)
c.86T>A (p.Leu29Gln)
TNNT2 c.266T>A (p.Ile89Asn)
c.842+1G>A
c.650_652delAGA (p.Lys217_Ile218delinsIle)
c.517_519delGAG (p.Glu173del)
c.311G>A (p.Arg104His)
c.305G>A (p.Arg102Gln)
c.304C>T (p.Arg102Trp)
c.266T>A (p.Ile89Asn)
c.548G>A (p.Arg183Gln)
c.505C>T (p.Arg169Ter)
c.446G>A (p.Arg149His)
c.430C>G (p.Arg144Gly)
c.422G>C (p.Arg141Pro)
c.422G>A (p.Arg141Gln)
c.418C>T (p.Arg140Cys)
c.382G>A (p.Glu128Lys)
c.321G>T (p.Lys107Asn)
c.311G>T (p.Arg104Leu)
TPM1 c.118G>A (p.Glu40Lys)
c.160G>A (p.Glu54Lys)
c.284T>C (p.Val95Ala)
c.539A>G (p.Glu180Gly)
c.673A>G (p.Ile225Val)
c.632C>G (p.Ala211Gly)
c.609C>G (p.Asn203Lys)
c.790A>G (p.Lys264Glu)
c.725C>T (p.Ala242Val)
c.475G>A (p.Asp159Asn)
c.457C>G (p.His153Asp)
c.423G>C (p.Met141Ile)
c.341A>G (p.Glu114Gly)
c.337C>G (p.Leu113Val)
c.23T>G (p.Met8Arg)
c.163G>A (p.Asp55Asn)
c.688G>A (p.Asp230Asn)
c.479G>A (p.Arg160His)
c.275T>C (p.Ile92Thr)
c.574G>A (p.Glu192Lys)
c.742A>G (p.Lys248Glu)
c.523G>A (p.Asp175Asn)
c.523G>A (p.Asp175Asn)
c.523G>A (p.Asp175Asn)
TNNI3 c.555C>G (p.Asn185Lys)
c.106A>C (p.Lys36Gln)
c.511G>A (p.Ala171Thr)
c.431T>A (p.Leu144Gln)
c.433C>T (p.Arg145Trp)
c.532A>G (p.Lys178Glu)
c.575G>A (p.Arg192His)
c.569A>G (p.Asp190Gly)
c.557G>A (p.Arg186Gln)
c.470C>T (p.Ala157Val)
c.532_534delAAG (p.Lys178del)
c.433C>T (p.Arg145Trp)
c.433C>G (p.Arg145Gly)
c.562G>A (p.Val188Met)
c.5C>T (p.Ala2Val)
c.550G>A (p.Glu184Lys)
c.544G>A (p.Glu182Lys)
c.485G>C (p.Arg162Pro)
c.485G>A (p.Arg162Gln)
c.464T>C (p.Met155Thr)
c.434G>A (p.Arg145Gln)
c.431T>C (p.Leu144Pro)
c.422G>A (p.Arg141Gln)
c.307C>T (p.Arg103Cys)
c.1A>G (p.Met1Val)
c.12-1G>T
c.61C>T (p.Arg21Cys)
c.607G>A (p.Gly203Ser)
c.586G>A (p.Asp196Asn)
c.616A>C (p.Lys206Gln)
c.569A>G (p.Asp190Gly)
c.244C>T (p.Pro82Ser)
c.433C>G (p.Arg145Gly)
c.86T>A (p.Leu29Gln)
c.1357C>A (p.Arg453Ser)
TTN c.14339G>A (p.Ser4780Asn)
c.13108C>T (p.Gln4370Ter)
c.160G>A (p.Val54Met)
c.2228C>T (p.Ala743Val)
c.2219G>T (p.Arg740Leu)
c.2926T>C (p.Trp976Arg)
c.12208G>T (p.Glu4070Ter)
c.102949C>T (p.Gln34317Ter)
c.93897delT (p.Phe31299Leufs)
c.90778_90779insT (p.Tyr30260delinsLeuGlnfs)
c.90587delA (p.Lys30196Argfs)
c.86821+2T>A
c.81532G>T (p.Glu27178Ter)
c.6678_6681delAAAG (p.Lys2227Phefs)
c.73845delA (p.Glu24615Aspfs)
c.73827delA (p.Glu24609Aspfs)
c.71602C>T (p.Arg23868Ter)
c.69458_69461dupAGAA (p.Asn23154delinsLysGluHisfs)
c.66618C>A (p.Cys22206Ter)
c.61876C>T (p.Arg20626Ter)
c.59205delG (p.Glu19735Aspfs)
c.57995delA (p.His19332Profs)
c.57847+1G>A
c.57331C>T (p.Arg19111Ter)
c.57215delG (p.Gly19072Glufs)
c.56732_56733insA (p.Asp18911delinsGluTrpfs)
c.56647+1G>A
c.54636T>G (p.Tyr18212Ter)
c.50618G>A (p.Trp16873Ter)
c.47506C>T (p.Gln15836Ter)
c.46782C>A (p.Tyr15594Ter)
c.46773T>A (p.Tyr15591Ter)
c.46069_46070delAT (p.Met15357Valfs)
c.45307C>T (p.Arg15103Ter)
c.44364delC (p.Tyr14789Thrfs)
c.41610delA (p.Val13871Serfs)
c.3034C>T (p.Arg1012Ter)
c.1800+1G>A
c.105524_105531delACCAAGTG (p.His35175_Val35177delinsHisfs)
c.106571delA (p.Lys35524Argfs*22)
NM_133378.4:c.81493_81493+2delGGT
c.107780_107790delAAGTAACATGGinsTGAAAGAAAAA (p.Glu35927_Trp35930delinsValLysGluLys)
     VCL c.829C>A (p.Leu277Met)
c.2923C>T (p.Arg975Trp)
c.659_660insA (p.Asn220delinsLysProfs)
c.562C>T (p.Arg188Ter)
c.313C>T (p.Arg105Ter)
c.1639C>T (p.Arg547Ter)
c.2923C>T (p.Arg975Trp)
c.59A>G (p.Tyr20Cys)
c.59A>G (p.Tyr20Cys)
Charcot marie tooth CMT1 PMP22 c.469C>T (p.Arg157Trp)
c.110A>T (p.Asp37Val)
c.448G>T (p.Gly150Cys)
c.206T>A (p.Met69Lys)
c.353C>T (p.Thr118Met)
c.281dupG (p.Gly94delinsGlyGlnfs)
c.36C>A (p.His12Gln)
c.65C>T (p.Ser22Phe)
c.199G>A (p.Ala67Thr)
c.215C>T (p.Ser72Leu)
c.236C>G (p.Ser79Cys)
c.281dupG (p.Gly94delinsGlyGlnfs)
c.353C>T (p.Thr118Met)
c.82T>C (p.Trp28Arg)
c.65C>T (p.Ser22Phe)
c.199G>C (p.Ala67Pro)
c.47T>C (p.Leu16Pro)
c.353C>T (p.Thr118Met)
MPZ T216E
S34del
D195Y
V102V
c.499G>C (p.Gly167Arg)
c.371C>A (p.Thr124Lys)
c.233C>T (p.Ser78Leu)
c.393C>A (p.Asn131Lys)
c.103G>T (p.Asp35Tyr)
c.184A>T (p.Ile62Phe)
c.499G>C (p.Gly167Arg)
c.188C>G (p.Ser63Cys)
c.649C>T (p.Pro217Ser)
c.645+1G>T
c.347A>G (p.Asn116Ser)
c.164G>T (p.Ser55Ile)
c.670G>T (p.Asp224Tyr)
c.588dupT (p.Ala196delinsAlaTyrfs)
c.487G>C (p.Gly163Arg)
c.389A>G (p.Lys130Arg)
c.337G>T (p.Val113Phe)
c.306delA (p.Val102Val=fs)
c.266T>C (p.Ile89Thr)
c.244T>C (p.Tyr82His)
c.241C>T (p.His81Tyr)
c.175T>A (p.Ser59Thr)
c.89T>C (p.Ile30Thr)
c.313C>A (p.Pro105Thr)
c.290A>T (p.Glu97Val)
c.186C>G (p.Ile62Met)
c.270C>A (p.Asp90Glu)
c.367G>A (p.Gly123Ser)
c.178G>C (p.Asp60His)
c.434A>C (p.Tyr145Ser)
c.308G>A (p.Gly103Glu)
c.643C>T (p.Gln215Ter)
c.188C>T (p.Ser63Phe)
c.292C>T (p.Arg98Cys)
c.409G>A (p.Gly137Ser)
c.404T>C (p.Ile135Thr)
c.131C>T (p.Ser44Phe)
c.224A>T (p.Asp75Val)
c.293G>A (p.Arg98His)
c.293G>C (p.Arg98Pro)
c.242A>G (p.His81Arg)
c.286A>G (p.Lys96Glu)
c.371C>T (p.Thr124Met)
c.371C>T (p.Thr124Met)
c.341T>C (p.Ile114Thr)
c.266T>A (p.Ile89Asn)
LITAF c.403C>T (p.Pro135Ser)
c.403C>A (p.Pro135Thr)
c.332C>G (p.Ala111Gly)
c.430G>A (p.Val144Met)
c.364C>G (p.Leu122Val)
c.346T>G (p.Trp116Gly)
c.344C>A (p.Thr115Asn)
c.334G>A (p.Gly112Ser)
EGR2 c.403C>T (p.Pro135Ser)
c.403C>A (p.Pro135Thr)
c.332C>G (p.Ala111Gly)
c.430G>A (p.Val144Met)
c.364C>G (p.Leu122Val)
c.346T>G (p.Trp116Gly)
c.344C>A (p.Thr115Asn)
c.334G>A (p.Gly112Ser)
Charcot marie tooth CMT2 MFN2 c.647T>C (p.Phe216Ser)
c.310C>T (p.Arg104Trp)
c.617C>T (p.Thr206Ile)
c.827A>G (p.Gln276Arg)
c.1085C>T (p.Thr362Met)
c.1090C>T (p.Arg364Trp)
c.280C>T (p.Arg94Trp)
c.1403G>A (p.Arg468His)
c.310C>T (p.Arg104Trp)
c.2119C>T (p.Arg707Trp)
c.1071G>C (p.Lys357Asn)
c.1085C>T (p.Thr362Met)
c.1090C>T (p.Arg364Trp)
c.493C>G (p.His165Asp)
c.205G>T (p.Val69Phe)
c.751C>G (p.Pro251Ala)
c.227T>C (p.Leu76Pro)
c.2219G>C (p.Trp740Ser)
c.280C>T (p.Arg94Trp)
c.281G>A (p.Arg94Gln)
c.839G>A (p.Arg280His)
KIF1B c.293A>T (p.Gln98Leu)
RAB7A c.471G>C (p.Lys157Asn)
c.482A>C (p.Asn161Thr)
c.484G>A (p.Val162Met)
c.385C>T (p.Leu129Phe)
LMNA c.892C>T (p.Arg298Cys)
TRPV4 c.947G>A (p.Arg316His)
c.1625C>A (p.Ser542Tyr)
c.557G>A (p.Arg186Gln)
c.805C>T (p.Arg269Cys)
c.694C>T (p.Arg232Cys)
c.943C>T (p.Arg315Trp)
c.946C>T (p.Arg316Cys)
c.806G>A (p.Arg269His)
BSCL2
c.1015C>T (p.Arg339Ter)
c.826G>C (p.Ala276Pro)
c.604C>T (p.Arg202Ter)
c.757G>T (p.Glu253Ter)
c.461C>T (p.Ser154Leu)
c.455A>G (p.Asn152Ser)
c.455A>G (p.Asn152Ser)
GARS c.893C>T (p.Pro298Leu)
c.1660G>A (p.Asp554Asn)
c.374A>G (p.Glu125Gly)
c.880G>C (p.Gly294Arg)
NEFL c.995A>C (p.Gln332Pro)
c.65C>G (p.Pro22Arg)
c.64C>A (p.Pro22Thr)
c.446C>T (p.Ala149Val)
c.293A>G (p.Asn98Ser)
c.1001A>C (p.Gln334Pro)
c.628G>T (p.Glu210Ter)
c.418G>T (p.Glu140Ter)
c.281T>C (p.Leu94Pro)
c.64C>T (p.Pro22Ser)
c.22_23delCCinsAG (p.Pro8Arg)
c.22_23delCCinsAG (p.Pro8Arg)
HSPB1 c.406C>T (p.Arg136Trp)
c.379C>T (p.Arg127Trp)
c.404C>T (p.Ser135Phe)
c.995A>C (p.Gln332Pro)
c.22_23delCCinsAG (p.Pro8Arg)
c.22_23delCCinsAG (p.Pro8Arg)
MPZ T216E
S34del
D195Y
V102V
c.499G>C (p.Gly167Arg)
c.371C>A (p.Thr124Lys)
c.233C>T (p.Ser78Leu)
c.393C>A (p.Asn131Lys)
c.103G>T (p.Asp35Tyr)
c.184A>T (p.Ile62Phe)
c.499G>C (p.Gly167Arg)
c.188C>G (p.Ser63Cys)
c.649C>T (p.Pro217Ser)
c.645+1G>T
c.347A>G (p.Asn116Ser)
c.164G>T (p.Ser55Ile)
c.670G>T (p.Asp224Tyr)
c.588dupT (p.Ala196delinsAlaTyrfs)
c.487G>C (p.Gly163Arg)
c.389A>G (p.Lys130Arg)
c.337G>T (p.Val113Phe)
c.306delA (p.Val102Val=fs)
c.266T>C (p.Ile89Thr)
c.244T>C (p.Tyr82His)
c.241C>T (p.His81Tyr)
c.175T>A (p.Ser59Thr)
c.89T>C (p.Ile30Thr)
c.313C>A (p.Pro105Thr)
c.290A>T (p.Glu97Val)
c.186C>G (p.Ile62Met)
c.270C>A (p.Asp90Glu)
c.367G>A (p.Gly123Ser)
c.178G>C (p.Asp60His)
c.434A>C (p.Tyr145Ser)
c.308G>A (p.Gly103Glu)
c.643C>T (p.Gln215Ter)
c.188C>T (p.Ser63Phe)
c.292C>T (p.Arg98Cys)
c.409G>A (p.Gly137Ser)
c.404T>C (p.Ile135Thr)
c.131C>T (p.Ser44Phe)
c.224A>T (p.Asp75Val)
c.293G>A (p.Arg98His)
c.293G>C (p.Arg98Pro)
c.242A>G (p.His81Arg)
c.286A>G (p.Lys96Glu)
c.371C>T (p.Thr124Met)
c.371C>T (p.Thr124Met)
c.341T>C (p.Ile114Thr)
c.266T>A (p.Ile89Asn)
GDAP1 c.487C>T (p.Gln163Ter)
c.980G>A (p.Gly327Asp)
c.844C>T (p.Arg282Cys)
c.482G>A (p.Arg161His)
c.92G>A (p.Trp31Ter)
c.715C>T (p.Leu239Phe)
c.821C>T (p.Pro274Leu)
c.368A>G (p.His123Arg)
c.467C>G (p.Ala156Gly)
c.678A>T (p.Arg226Ser)
c.719G>A (p.Cys240Tyr)
c.692C>T (p.Pro231Leu)
c.652C>G (p.Gln218Glu)
c.469A>C (p.Thr157Pro)
c.487C>T (p.Gln163Ter)
c.715C>T (p.Leu239Phe)
c.715C>T (p.Leu239Phe)
c.347T>G (p.Met116Arg)
c.581C>G (p.Ser194Ter)
c.581C>G (p.Ser194Ter)
c.358C>T (p.Arg120Trp)
c.581C>G (p.Ser194Ter)
HSPB8 c.423G>T (p.Lys141Asn)
c.423G>C (p.Lys141Asn)
c.421A>G (p.Lys141Glu)
DNM2  LYS558 DEL
c.1135T>G (p.Phe379Val)
c.1709T>A (p.Leu570His)
c.1609G>T (p.Gly537Cys)
c.1684A>G (p.Lys562Glu)
c.1072G>A (p.Gly358Arg)
c.1393C>T (p.Arg465Trp)
c.1105C>T (p.Arg369Trp)
c.1106G>A (p.Arg369Gln)
c.1102G>A (p.Glu368Lys)
c.1856C>G (p.Ser619Trp)
c.1856C>T (p.Ser619Leu)
Charcot marie tooth CMT4 GDAP1 c.487C>T (p.Gln163Ter)
c.980G>A (p.Gly327Asp)
c.844C>T (p.Arg282Cys)
c.482G>A (p.Arg161His)
c.92G>A (p.Trp31Ter)
c.715C>T (p.Leu239Phe)
c.821C>T (p.Pro274Leu)
c.368A>G (p.His123Arg)
c.467C>G (p.Ala156Gly)
c.678A>T (p.Arg226Ser)
c.719G>A (p.Cys240Tyr)
c.692C>T (p.Pro231Leu)
c.652C>G (p.Gln218Glu)
c.469A>C (p.Thr157Pro)
c.487C>T (p.Gln163Ter)
c.715C>T (p.Leu239Phe)
c.715C>T (p.Leu239Phe)
c.347T>G (p.Met116Arg)
c.581C>G (p.Ser194Ter)
c.581C>G (p.Ser194Ter)
c.358C>T (p.Arg120Trp)
c.581C>G (p.Ser194Ter)
MTMR2 c.1444C>T (p.Gln482Ter)
c.1276C>T (p.Gln426Ter)
c.826G>T (p.Glu276Ter)
SBF2 c.3586C>T (p.Arg1196Ter)
c.2875C>T (p.Gln959Ter)
c.1459C>T (p.Arg487Ter)
SH3TC2 c.505T>C (p.Tyr169His)
c.920G>A (p.Trp307Ter)
c.3601C>T (p.Gln1201Ter)
c.3341delC (p.Pro1114Leufs)
c.3326G>C (p.Arg1109Pro)
c.28delG (p.Glu10Serfs)
c.2710C>T (p.Arg904Ter)
c.2642A>T (p.Asn881Ile)
c.2491_2492delAG (p.Ser831Ser=fs)
c.2191delG (p.Glu731Lysfs)
c.217_227delGCTGCTCGGAGinsCCAGTAA (p.Ala73_Arg76delinsProValSerfs)
c.1982T>C (p.Leu661Pro)
c.1972C>T (p.Arg658Cys)
c.1178-1G>A
c.2860C>T (p.Arg954Ter)
c.1969G>A (p.Glu657Lys)
c.505T>C (p.Tyr169His)
c.2829T>G (p.Tyr943Ter)
c.530-2A>G
c.1747_1748delAG (p.Arg583Alafs)
c.1586G>A (p.Arg529His)
c.3325C>T (p.Arg1109Ter)
c.2860C>T (p.Arg954Ter)
NDRG1 c.442C>T (p.Arg148Ter)
EGR2 c.1075C>T (p.Arg359Trp)
c.1160C>A (p.Thr387Asn)
c.1142G>A (p.Arg381His)
c.1076G>A (p.Arg359Gln)
c.1147G>T (p.Asp383Tyr)
c.1146T>G (p.Ser382Arg)
c.803T>A (p.Ile268Asn)
c.1234G>A (p.Glu412Lys)
c.1075C>T (p.Arg359Trp)
c.803T>A (p.Ile268Asn)
c.1075C>T (p.Arg359Trp)
c.1225C>T (p.Arg409Trp)
c.1146T>G (p.Ser382Arg)
PRX c.1102C>T (p.Arg368Ter)
c.2857C>T (p.Arg953Ter)
c.3208C>T (p.Arg1070Ter)
c.247delC (p.Leu83Cysfs)
c.2098delG (p.Ala700Profs)
c.586C>T (p.Arg196Ter)
c.3208C>T (p.Arg1070Ter)
c.2145T>A (p.Cys715Ter)
c.586C>T (p.Arg196Ter)
c.1951G>A (p.Asp651Asn)
FGD4 c.893T>G (p.Met298Arg)
c.1325G>A (p.Arg442His)
c.1698G>H
c.1756G>T (p.Gly586Ter)
c.670C>T (p.Arg224Ter)
c.823C>T (p.Arg275Ter)
c.1762-2A>G
c.893T>C (p.Met298Thr)
FIG4 c.547C>T (p.Arg183Ter)
c.122T>C (p.Ile41Thr)
Charcot marie tooth CMTX GJB1 c.571_579dupACCGTCTTC (p.Thr191_Phe193delinsThrValPheThrValPhe)
c.556G>A (p.Glu186Lys)
c.536G>A (p.Cys179Tyr)
c.43C>T (p.Arg15Trp)
c.225delG (p.Arg75Arg=fs)
c.223C>T (p.Arg75Trp)
c.187G>A (p.Val63Ile)
c.145T>C (p.Ser49Pro)
c.123G>C (p.Glu41Asp)
c.407T>C (p.Val136Ala)
c.37G>T (p.Val13Leu)
c.194A>G (p.Tyr65Cys)
c.467T>G (p.Leu156Arg)
c.89T>A (p.Ile30Asn)
c.397T>C (p.Trp133Arg)
c.514C>T (p.Pro172Ser)
c.424C>T (p.Arg142Trp)
c.172C>T (p.Pro58Ser)
c.254C>G (p.Ser85Cys)
c.704T>G (p.Phe235Cys)
c.164C>T (p.Thr55Ile)
c.614A>G (p.Asn205Ser)
c.283G>A (p.Val95Met)
c.415G>A (p.Val139Met)
c.407T>C (p.Val136Ala)
c.658C>T (p.Arg220Ter)
PRPS1 c.344T>C (p.Met115Thr)
c.129A>C (p.Glu43Asp)
Charge syndrome CHD7 c.4795C>T (p.Gln1599Ter)
c.6322G>A (p.Gly2108Arg)
c.3811G>T (p.Glu1271Ter)
c.6955C>A (p.Arg2319Ser)
c.5418C>G (p.Tyr1806Ter)
c.3770T>G (p.Leu1257Arg)
c.3082A>G (p.Ile1028Val)
c.2442+5G>C
c.2501C>T (p.Ser834Phe)
Ciliary dyskinesia DNAI1 c.2001+1G>A
c.1490G>A (p.Gly497Asp)
c.1543G>A (p.Gly515Ser)
DNAH5 G1047R
c.1730G>C (p.Arg577Thr)
c.10815delT (p.Pro3606Hisfs)
c.1121T>C (p.Ile374Thr)
c.1828C>T (p.Gln610Ter)
c.10555G>C (p.Gly3519Arg)
Congenital adrenal hyperplasia CYP21A2 G375S
V304M
R408C
R426H
G424S
E380D
H62L
c.923dupT (p.Leu308Phefs)
c.844G>C (p.Val282Leu)
c.874G>A (p.Gly292Ser)
c.361A>C (p.Lys121Gln)
c.1217G>A (p.Trp406Ter)
c.1451_1452delGGinsC (p.Arg484Profs)
c.920_921insT (p.Phe307delinsPhePhefs)
c.1360C>T (p.Pro454Ser)
c.1069C>T (p.Arg357Trp)
c.844G>T (p.Val282Leu)
c.844G>T (p.Val282Leu)
c.92C>T (p.Pro31Leu)
c.844G>T (p.Val282Leu)
c.518T>A (p.Ile173Asn)
c.293-13C>G
c.713T>A (p.Val238Glu)
c.713T>A (p.Val238Glu)
Congenital hypothyroidism DUOX2 c.1126C>T (p.Arg376Trp)
c.2524C>T (p.Arg842Ter)
c.2056C>T (p.Gln686Ter)
c.1300C>T (p.Arg434Ter)
c.738C>G (p.Tyr246Ter)
PAX8 c.143C>T (p.Ser48Phe)
c.119A>C (p.Gln40Pro)
c.160A>G (p.Ser54Gly)
c.170G>A (p.Cys57Tyr)
c.185T>G (p.Leu62Arg)
c.92G>A (p.Arg31His)
c.322C>T (p.Arg108Ter)
SLC5A5 c.1628G>A (p.Gly543Glu)
c.277G>C (p.Gly93Arg)
c.1593C>G (p.Tyr531Ter)
c.799C>G (p.Gln267Glu)
c.816C>A (p.Cys272Ter)
c.1183G>A (p.Gly395Arg)
c.1060A>C (p.Thr354Pro)
TG c.7007G>A (p.Arg2336Gln)
c.5690G>A (p.Cys1897Tyr)
c.3229T>C (p.Cys1077Arg)
c.6725G>A (p.Arg2242His)
c.7123G>A (p.Gly2375Arg)
c.5986T>A (p.Cys1996Ser)
c.3733T>C (p.Cys1245Arg)
c.4588C>T (p.Arg1530Ter)
c.886C>T (p.Arg296Ter)
TPO c.1978C>G (p.Gln660Glu)
c.1943G>A (p.Arg648Gln)
c.1768G>A (p.Gly590Ser)
c.1357T>G (p.Tyr453Asp)
c.1339A>T (p.Ile447Phe)
c.1618C>T (p.Arg540Ter)
c.2077C>T (p.Arg693Trp)
c.2395G>A (p.Glu799Lys)
TSHB c.94G>T (p.Glu32Ter)
c.145G>A (p.Gly49Arg)
c.205C>T (p.Gln69Ter)
TSHR c.1400T>C (p.Leu467Pro)
c.1798T>C (p.Cys600Arg)
c.1291G>A (p.Gly431Ser)
c.928C>T (p.Arg310Cys)
c.1430C>T (p.Thr477Ile)
c.1915C>T (p.Pro639Ser)
c.548A>G (p.Lys183Arg)
c.842G>A (p.Ser281Asn)
c.1514G>A (p.Ser505Asn)
c.2015G>A (p.Cys672Tyr)
c.1657G>A (p.Ala553Thr)
c.1575C>A (p.Phe525Leu)
c.1228G>A (p.Asp410Asn)
c.970C>T (p.Gln324Ter)
c.326G>A (p.Arg109Gln)
c.1897G>C (p.Asp633His)
c.1358T>C (p.Met453Thr)
c.500T>A (p.Ile167Asn)
c.1887G>T (p.Leu629Phe)
c.1526T>C (p.Val509Ala)
c.1170T>G (p.Cys390Trp)
c.122G>C (p.Cys41Ser)
c.1637G>A (p.Trp546Ter)
c.484C>G (p.Pro162Ala)
c.1891T>C (p.Phe631Leu)
Cystic fibrosis CFTR c.1558G>A (p.Val520Ile)
c.3808G>A (p.Asp1270Asn)
c.2909G>A (p.Gly970Asp)
c.350G>A (p.Arg117His)
c.2374C>G (p.Arg792Gly)
c.1865G>A (p.Gly622Asp)
c.2813T>G (p.Val938Gly)
H1282*
A445E
Q524H
c.2453delT (p.Leu818Trpfs)
c.997C>T (p.Leu333Phe)
c.846A>T (p.Glu282Asp)
c.592G>A (p.Ala198Thr)
c.4280T>C (p.Ile1427Thr)
c.4242+2T>C
c.3997G>T (p.Gly1333Trp)
c.380_382dupTAT (p.Leu127_Cys128delinsLeuLeuCys)
c.370G>C (p.Gly124Arg)
c.355A>G (p.Ile119Val)
c.3038C>A (p.Pro1013His)
c.114C>G (p.Tyr38Ter)
c.3302T>A (p.Met1101Lys)
c.650A>G (p.Glu217Gly)
c.2421_2422dupAT (p.Ile807_Tyr808delinsIleTyrIlefs)
c.3659C>T (p.Thr1220Ile)
c.2146A>T (p.Lys716Ter)
c.3184_3188dupCTATG (p.Leu1062_Trp1063delinsLeuCysTyrGlyfs)
c.1666A>G (p.Ile556Val)
c.3492dupT (p.Phe1164delinsPheTerfs)
c.3535_3536insTCAA (p.Thr1179delinsIleAsnGlnfs)
c.3878_3881delTATT (p.Val1293_Phe1294delinsValfs)
c.988G>T (p.Gly330Ter)
c.658C>T (p.Gln220Ter)
c.613C>T (p.Pro205Ser)
c.595C>T (p.His199Tyr)
c.580-1G>T
c.579+5G>A
c.579+3A>G
c.532G>A (p.Gly178Arg)
c.531delT (p.Ile177Metfs)
c.442delA (p.Ile148Leufs)
c.4251delA (p.Glu1418Argfs)
c.4077_4080delTGTTinsAA (p.Val1360Thrfs)
c.3884_3885insT (p.Ile1295delinsIlePhefs)
c.3731G>A (p.Gly1244Glu)
c.366T>A (p.Tyr122Ter)
c.3612G>A (p.Trp1204Ter)
c.3587C>G (p.Ser1196Ter)
c.349C>T (p.Arg117Cys)
c.3310G>T (p.Glu1104Ter)
c.3276C>A (p.Tyr1092Ter)
c.325_327delTATinsG (p.Tyr109Glyfs)
c.3230T>C (p.Leu1077Pro)
c.2989-1G>A
c.292C>T (p.Gln98Ter)
c.2908G>C (p.Gly970Arg)
c.2875delG (p.Ala959Hisfs)
c.2834C>T (p.Ser945Leu)
c.2780T>C (p.Leu927Pro)
c.274-1G>A
c.273+1G>A
c.2583delT (p.Phe861Leufs)
c.2537G>A (p.Trp846Ter)
c.2491G>T (p.Glu831Ter)
c.2464G>T (p.Glu822Ter)
c.2290C>T (p.Arg764Ter)
c.223C>T (p.Arg75Ter)
c.2215delG (p.Val739Tyrfs)
c.2195T>G (p.Leu732Ter)
c.2125C>T (p.Arg709Ter)
c.200C>T (p.Pro67Leu)
c.1A>G (p.Met1Val)
c.178G>T (p.Glu60Ter)
c.1766+3A>G
c.1753G>T (p.Glu585Ter)
c.1680-1G>A
c.1647T>G (p.Ser549Arg)
c.1466C>A (p.Ser489Ter)
c.1397C>A (p.Ser466Ter)
c.1393-1G>A
c.1329_1330insAGAT (p.Ile444delinsArgTyrTerfs)
c.1209+1G>A
c.1203G>A (p.Trp401Ter)
c.1202G>A (p.Trp401Ter)
c.115C>T (p.Gln39Ter)
c.1127_1128insA (p.Gln378Alafs)
c.1116+1G>A
c.1022_1023insTC (p.Phe342Hisfs)
c.1021T>C (p.Ser341Pro)
c.1007T>A (p.Ile336Lys)
c.3773dupT (p.Leu1258Phefs*7)
c.1645A>C (p.Ser549Arg)
c.860dupA (p.Asn287delinsLysLeufs)
c.-102A=
c.2810dupT (p.Leu937delinsLeuGlyfs)
c.3957_3958insAGGG (p.Ala1319_Asp1320delinsAlaArgGlyTerfs)
c.3893G>C (p.Gly1298Ala)
c.2932A>T (p.Lys978Ter)
c.1692delA (p.Lys564Lys=fs)
c.1682C>A (p.Ala561Glu)
c.19G>T (p.Glu7Ter)
c.1438G>T (p.Gly480Cys)
c.4056G>C (p.Gln1352His)
c.3161delA (p.His1054Leufs)
c.1477_1478delCA (p.Gln493Valfs)
c.3746G>A (p.Gly1249Glu)
c.3212A>C (p.Gln1071Pro)
c.805_806delAT (p.Ile269Profs)
c.326A>G (p.Tyr109Cys)
c.3857T>C (p.Phe1286Ser)
c.1046C>T (p.Ala349Val)
c.3848G>T (p.Arg1283Met)
c.933C>G (p.Phe311Leu)
c.3717+4A>G
c.3764C>A (p.Ser1255Ter)
c.1721C>A (p.Pro574His)
c.1646G>T (p.Ser549Ile)
c.1687T>A (p.Tyr563Asn)
c.3907A>C (p.Asn1303His)
c.3700A>G (p.Ile1234Val)
c.3254A>G (p.His1085Arg)
c.2845C>T (p.His949Tyr)
c.1943A>T (p.Asp648Val)
c.3763T>C (p.Ser1255Pro)
c.271G>A (p.Gly91Arg)
c.171G>A (p.Trp57Ter)
c.3712C>T (p.Gln1238Ter)
c.1601C>A (p.Ala534Glu)
c.1040G>T (p.Arg347Leu)
c.3199G>A (p.Ala1067Thr)
c.2479G>T (p.Glu827Ter)
c.3873G>C (p.Gln1291His)
c.1572C>A (p.Cys524Ter)
c.2737_2738insG (p.Tyr913delinsTerLeufs)
c.1651G>A (p.Gly551Ser)
c.3947G>A (p.Trp1316Ter)
c.1373G>T (p.Gly458Val)
c.2738A>G (p.Tyr913Cys)
c.3717+5G>A
c.1817_1900del84 (p.Lys606_Gln634?)
c.1021_1022dupTC (p.Ser341delinsSerHisfs)
c.3469-20T>C
c.1658G>A (p.Arg553Gln)
c.2291delG (p.Arg764Glnfs)
c.1083delG (p.Trp361Cysfs)
c.429delT (p.Phe143Leufs)
c.424delA (p.Ile142Phefs)
c.2052delA (p.Lys684Asnfs)
c.273+4A>G
c.3767dupC (p.Leu1258Phefs*7)
c.3718-1G>A
c.1093_1094delCT (p.Leu365Trpfs)
c.2768C>A (p.Ala923Asp)
c.853A>T (p.Ile285Phe)
c.825C>G (p.Tyr275Ter)
c.274G>T (p.Glu92Ter)
c.262_263delTT (p.Leu88Ilefs)
c.3194T>C (p.Leu1065Pro)
c.2175_2176insA (p.Glu725_Glu726delinsGluArgGlyfs)
c.3472C>T (p.Arg1158Ter)
c.1675G>A (p.Ala559Thr)
c.1646G>A (p.Ser549Asn)
c.1477C>T (p.Gln493Ter)
c.3276C>G (p.Tyr1092Ter)
c.1400T>C (p.Leu467Pro)
c.3744delA (p.Ser1248Ser=fs)
c.3752G>A (p.Ser1251Asn)
c.2668C>T (p.Gln890Ter)
c.2128A>T (p.Lys710Ter)
c.1654C>T (p.Gln552Ter)
c.1055G>A (p.Arg352Gln)
c.1013C>T (p.Thr338Ile)
c.274G>A (p.Glu92Lys)
c.3937C>T (p.Gln1313Ter)
c.3196C>T (p.Arg1066Cys)
c.3197G>A (p.Arg1066His)
c.1475C>T (p.Ser492Phe)
c.1558G>T (p.Val520Phe)
c.2551C>T (p.Arg851Ter)
c.1545_1546delTA (p.Tyr515_Arg516delinsTerIlefs)
c.2538G>A (p.Trp846Ter)
c.3209G>A (p.Arg1070Gln)
c.2989-2A>T
c.3705T>G (p.Ser1235Arg)
c.3080T>C (p.Ile1027Thr)
c.720_741del (p.Leu240_Tyr247delinsLeufs)
c.328G>C (p.Asp110His)
c.579+1G>T
c.489+1G>T
c.2657+5G>A
c.3611G>A (p.Trp1204Ter)
c.2490+1G>A
c.948delT (p.Phe316Leufs)
c.3873+1G>A
c.1679G>A (p.Arg560Lys)
c.1081delT (p.Trp361Glyfs)
c.1731C>T (p.Tyr577Tyr=)
c.3154T>G (p.Phe1052Val)
c.459_476del (p.Ile154_Leu159del)
c.3659delC (p.Thr1220Lysfs)
c.958T>G (p.Leu320Val)
c.3691delT (p.Ser1231Profs)
c.617T>G (p.Leu206Trp)
c.1521_1523delCTT (p.Phe508delPhe)
c.1679G>C (p.Arg560Thr)
c.1364C>A (p.Ala455Glu)
c.1397C>G (p.Ser466Ter)
c.1585-8G>A
c.1040G>C (p.Arg347Pro)
c.3717+12191C>T
c.3484C>T (p.Arg1162Ter)
c.1766+1G>A
c.254G>A (p.Gly85Glu)
c.3909C>G (p.Asn1303Lys)
c.1585-1G>A
c.1000C>T (p.Arg334Trp)
NM_000492.3:c.1210-12_1210-6T[5]
c.1075C>A (p.Gln359Lys)
c.1519_1521delATC (p.Ile507del)
c.2988G>A (p.Gln996Gln=)
c.3095A>G (p.Tyr1032Cys)
c.2735C>T (p.Ser912Leu)
c.3846G>A (p.Trp1282Ter)
c.1647T>G (p.Ser549Arg)
c.1210-12_1210-6T
c.350G>A (p.Arg117His)
c.1054C>T (p.Arg352Trp)
c.1367T>C (p.Val456Ala)
c.4056G>T (p.Gln1352His)
c.1657C>T (p.Arg553Ter)
c.1624G>T (p.Gly542Ter)
c.2988+1G>A
c.2597G>A (p.Cys866Tyr)
c.2012delT (p.Leu671Terfs)
c.3454G>C (p.Asp1152His)
c.125C>T (p.Ser42Phe)
c.273+3A>C
NM_000492.3:c.3964-78_4242+577del
1811+1.6kbA->G
c.1911delG (p.Gln637Hisfs)
c.14C>T (p.Pro5Leu)
c.1666A>G (p.Ile556Val)
c.1673T>C (p.Leu558Ser)
c.1521_1523delCTT (p.Phe508delPhe)
c.3266G>A (p.Trp1089Ter)
c.2051_2052delAAinsG (p.Lys684Serfs)
c.1040G>A (p.Arg347His)
c.3528delC (p.Thr1176Thr=fs)
c.4046G>A (p.Gly1349Asp)
c.1727G>C (p.Gly576Ala)
c.2052dupA (p.Gln685Thrfs*4)
c.3140-26A>G
c.1040G>A (p.Arg347His)
c.1652G>A (p.Gly551Asp)
De lange s. NIPBL c.7806_7807insT (p.Asn2603Terfs)
c.7789delC (p.Leu2597Cysfs)
c.7327C>T (p.Gln2443Ter)
c.7301A>G (p.Asn2434Ser)
c.6892C>G (p.Arg2298Gly)
c.6641_6647delATCTATA (p.Asn2214Ilefs)
c.6631G>T (p.Glu2211Ter)
c.585C>G (p.Tyr195Ter)
c.5566A>G (p.Arg1856Gly)
c.5456G>A (p.Arg1819Gln)
c.5440C>T (p.Arg1814Ter)
c.5366G>A (p.Arg1789Gln)
c.4806_4807delGA (p.Glu1602Aspfs)
c.4511T>A (p.Leu1504Ter)
c.4285_4294delGAACTACAGT (p.Glu1429Cysfs)
c.3445C>T (p.Arg1149Ter)
c.2592T>A (p.Asp864Glu)
c.192delG (p.Gln64Hisfs)
c.1445_1448delGAGA (p.Arg482Asnfs)
c.133C>T (p.Arg45Ter)
c.4606C>T (p.Arg1536Ter)
c.3616_3618delATA (p.Ile1206delIle)
c.7289A>G (p.Tyr2430Cys)
c.2T>A (p.Met1Lys)
c.3737C>G (p.Ala1246Gly)
c.5167C>T (p.Arg1723Ter)
SMC3 CTAAA^487AGAGAagaTCTTGAAAAG
Early-onset primary dystonia TOR1A c.613T>A (p.Phe205Ile)
c.966_983del18 (p.Val322_Tyr328delinsVal)
c.934_937delAGAG (p.Arg312_Val313delinsPhefs)
c.646G>C (p.Asp216His)
c.646G>C (p.Asp216His)
c.966_983del18 (p.Val322_Tyr328delinsVal)
c.904_906delGAG (p.Glu302del)
Ellissocitosi ereditaria TIPO 1 EPB41 c.2T>C (p.Met1Thr)
c.2T>G (p.Met1Arg)
Dystrophinopathies DMD v. NEUROMUSCULAR
Ehlers-Danlos syndrome ADAMTS2 c.2384G>A (p.Trp795Ter)
c.673C>T (p.Gln225Ter)
COL1A1 c.934C>T (p.Arg312Cys)
c.572G>A (p.Gly191Asp)
COL1A2 c.3601G>T (p.Glu1201Ter)
c.226-1G>C
COL3A1 G297R
G373R
c.1347+1G>A
c.2356G>A (p.Gly786Arg)
c.2410G>A (p.Gly804Ser)
c.1773dupT (p.Lys592Ter)
c.2914G>A (p.Gly972Ser)
c.1762-2A>G (p.Gly588_Gln605del)
c.1347+5G>C (p.Arg449_Gly450insValSerPheThrAlaThrAspLeu+)
c.3410G>A (p.Gly1137Asp)
c.582+5G>T (p.Gly177_Pro194del)
c.4286_4287delTT (p.Phe1429Terfs)
c.2022G>T (p.Lys674Asn)
c.799G>A (p.Gly267Ser)
c.2573G>T (p.Gly858Val)
c.3482G>A (p.Gly1161Glu)
c.2735G>A (p.Gly912Asp)
c.1869+5G>T (p.Gly606_Thr623del)
c.3472G>C (p.Gly1158Arg)
c.539G>A (p.Gly180Asp)
c.2553+3A>T (p.Gly816_Ala851del)
c.3575_3576insAGGG (p.Pro1193Glyfs)
c.3417+1G>T (p.Gly1122_Arg1139del+)
c.2553+1G>C (p.Gly816_Ala851del)
c.610G>A (p.Gly204Ser)
c.575G>T (p.Gly192Val)
c.3212G>T (p.Gly1071Val)
c.2023-1G>A (p.Gly675Valfs*116)
c.413delC (p.Pro138Leufs)
c.1347+1G>T (p.Arg449_Gly450insValSerPheThrAlaThrAspLeu+)
c.2815G>A (p.Gly939Ser)
c.2096G>A (p.Gly699Asp)
c.754G>C (p.Gly252Arg)
c.674G>C (p.Gly225Ala)
c.1456-13_1499del (p.Gly486_Lys503del)
c.3103G>T (p.Gly1035Cys)
c.3572G>A (p.Gly1191Asp)
c.3490G>C (p.Gly1164Arg)
c.1610delG (p.Gly537Alafs)
c.1456-10T>G (p.Arg485_Gly486insTyrPheGln)
c.1978-6_1981del (p.Gly660_Lys662del)
c.3499G>T (p.Gly1167Cys)
c.1923+1G>C (p.Gly624_Gln641del)
c.1970G>A (p.Gly657Glu)
c.2177G>A (p.Gly726Glu)
c.2231G>T (p.Gly744Val)
c.1096G>A (p.Gly366Arg)
c.2131G>A (p.Gly711Ser)
c.2284G>C (p.Gly762Arg)
c.1556G>A (p.Gly519Glu)
c.1258G>A (p.Gly420Ser)
c.1763G>A (p.Gly588Asp)
c.2554G>T (p.Gly852Cys)
c.2402G>A (p.Gly801Asp)
c.636+5G>A (p.Gly195_Ser212del)
c.997-1G>C (p.Gly333_Lys350del+)
c.2870G>T (p.Gly957Val)
c.1105_1107delGGA (p.Gly369del)
c.2221G>A (p.Gly741Ser)
c.2553+2T>C (p.Gly816_Ala851del)
c.1861G>C (p.Gly621Arg)
c.3544G>A (p.Gly1182Arg)
c.3202-2A>G (p.Gly1068_Pro1085del)
c.631_636+6delinsTACTAAATATA (p.Gly195_Ser212del)
c.2186G>A (p.Gly729Glu)
c.1646G>A (p.Gly549Glu)
c.2141G>A (p.Gly714Glu)
c.30G>A (p.Trp10Ter)
c.1988G>T (p.Gly663Val)
c.636+1G>A (p.Gly195_Ser212del)
c.2121+1G>C (p.Gly675_Lys707del)
c.2860G>A (p.Gly954Arg)
c.998G>A (p.Gly333Asp)
c.3266G>A (p.Gly1089Asp)
c.728G>A (p.Gly243Glu)
c.3325C>T (p.Arg1109Ter)
c.764G>A (p.Gly255Glu)
c.582+5G>A (p.Gly177_Pro194del)
c.1870-2A>G (p.Gly624_Gln641del)
c.997-10A>G (p.Pro332_Gly333insFFQ)
c.3418-2A>G (p.Arg1139_Gly1140insVSSTERYYRSTCFRCLHFRKIFWHCDVMILSW)
c.3527_3528delGCinsAA (p.Gly1176Glu)
c.3093+2T>G (p.Gly1014_Lys1031del)
c.1915G>A (p.Gly639Arg)
c.2095G>C (p.Gly699Arg)
c.3256-43T>G (p.Pro1085_Gly1086insVCVYMTSIQNMFLK)
c.3275G>T (p.Gly1092Val)
c.1410delT (p.Gly471Glufs)
c.2553+1G>A (p.Gly816_Ala851del)
c.2887G>C (p.Gly963Arg)
c.2337+1G>A (p.Gly762_Lys779del)
c.2607+5G>A (p.Gly852_Pro869del)
c.2753G>A (p.Gly918Glu)
c.1925G>T (p.Gly642Val)
c.690+1G>A (p.Gly213_Asp230del)
c.3023G>A (p.Gly1008Asp)
c.3490G>A (p.Gly1164Arg)
c.3863A>T (p.Asp1288Val)
c.2142_2168del27 (p.Pro715_Gly723del)
c.701G>A (p.Gly234Asp)
c.955_974del20insTTTACATCGAGGGTTTTAAAGTTTACA (p.Ala319Phefs)
c.2870G>A (p.Gly957Asp)
c.2534dupC (p.Gly846Trpfs)
c.2123G>T (p.Gly708Val)
c.665G>A (p.Gly222Asp)
c.583G>C (p.Gly195Arg)
c.951+1G>A (p.Gly300_Ala317del)
c.962G>A (p.Gly321Asp)
c.3157G>C (p.Gly1053Arg)
c.970G>A (p.Gly324Ser)
c.996+2T>A (p.Gly318_Pro332del)
c.2995G>A (p.Gly999Ser)
c.3419G>A (p.Gly1140Glu)
c.548G>C (p.Gly183Ala)
c.3989delA (p.Glu1330Glyfs)
c.3496C>T (p.Arg1166Ter)
c.3545G>A (p.Gly1182Glu)
c.2636G>T (p.Gly879Val)
c.827G>A (p.Gly276Asp)
c.2285G>A (p.Gly762Asp)
c.2022G>A (p.Lys674=)
c.3518G>T (p.Gly1173Val)
c.2501G>A (p.Gly834Asp)
c.593G>A (p.Gly198Glu)
c.2887G>T (p.Gly963Cys)
c.3356G>A (p.Gly1119Asp)
c.2176G>A (p.Gly726Arg)
c.1249G>A (p.Gly417Arg)
c.2445+5G>A (p.Gly798_Pro815del)
c.782G>A (p.Gly261Asp)
c.1844G>A (p.Gly615Glu)
c.1384G>A (p.Gly462Ser)
c.926G>A (p.Gly309Glu)
c.1511G>T (p.Gly504Val)
c.2105G>T (p.Gly702Val)
c.1267G>A (p.Gly423Ser)
c.656G>A (p.Gly219Asp)
c.2293G>A (p.Gly765Ser)
c.1149+1G>T (p.Gly351_Pro383del)
c.728G>T (p.Gly243Val)
c.2212G>T (p.Gly738Cys)
c.3545G>T (p.Gly1182Val)
c.615_629dupACCTGGGCAAGCTGG (p.Pro211_Ser212insGlyGlnAlaGlyPro)
c.3536G>T (p.Gly1179Val)
c.611G>A (p.Gly204Asp)
c.1761+2T>G (p.Gly555_Asp587del)
c.709G>A (p.Gly237Arg)
c.655G>T (p.Gly219Cys)
c.2113G>A (p.Gly705Arg)
c.2645G>A (p.Gly882Asp)
c.1862G>A (p.Gly621Glu)
c.1358G>A (p.Gly453Asp)
c.1961G>A (p.Gly654Glu)
c.3176G>T (p.Gly1059Val)
c.1475G>T (p.Gly492Val)
c.4399T>C (p.Ter1467Gln)
c.2824-1G>A (p.Gly942Glufs*294)
c.1861G>T (p.Gly621Trp)
c.2213G>T (p.Gly738Val)
c.3293G>T (p.Gly1098Val)
c.1816G>C (p.Gly606Arg)
c.1150-1_1166delinsCCGTCCTGGGCCCTGGTGGTATACAAACCTGGTATACCACC (p.Gly384_Met398del)
c.1898G>A (p.Gly633Glu)
c.1330G>C (p.Gly444Arg)
c.3284G>A (p.Gly1095Asp)
c.3499G>C (p.Gly1167Arg)
c.2915G>C (p.Gly972Ala)
c.976C>T (p.Arg326Ter)
c.2194G>A (p.Gly732Arg)
c.764G>T (p.Gly255Val)
c.1662+1G>C (p.Gly537_Pro554del)
c.791G>A (p.Gly264Glu)
c.1977+2T>G (p.Gly642_Pro659del)
c.997-2A>G (p.Gly333_Lys350del+)
c.2770G>A (p.Gly924Ser)
c.592G>A (p.Gly198Arg)
c.1869+1G>C (p.Gly606_Thr623del)
c.2699G>A (p.Gly900Asp)
c.951+4A>T (p.Gly300_Ala317del)
c.2024G>T (p.Gly675Val)
c.647G>A (p.Gly216Glu)
c.2933G>A (p.Gly978Asp)
c.1808delG (p.Gly603Alafs)
c.836G>A (p.Gly279Asp)
c.620G>T (p.Gly207Val)
c.2087G>A (p.Gly696Asp)
c.2655_2661+7delinsGACCTGAGAC (p.Ser886Thrfs*2)
c.2681G>C (p.Gly894Ala)
c.962G>T (p.Gly321Val)
c.2051G>T (p.Gly684Val)
c.1268G>A (p.Gly423Asp)
c.4294C>T (p.Arg1432Ter)
c.1618G>A (p.Gly540Arg)
c.2959G>A (p.Gly987Ser)
c.746G>T (p.Gly249Val)
c.3104G>T (p.Gly1035Val)
c.1194+1G>A (p.Gly384_Met398del)
c.2168G>A (p.Gly723Asp)
c.2905G>A (p.Gly969Arg)
c.1068_1069insGACCCTGCA (p.Ala356_Gly357insAspProAla)
c.3500G>T (p.Gly1167Val)
c.2059G>C (p.Gly687Arg)
c.2987G>A (p.Gly996Glu)
c.1870-2A>T (p.Gly624_Gln641del)
c.3535G>C (p.Gly1179Arg)
c.1923+1G>A (p.Gly624_Gln641del)
c.2445+2dupT (p.Gly798_Pro815del)
c.2897G>T (p.Gly966Val)
c.737G>A (p.Gly246Glu)
c.1124G>A (p.Gly375Glu)
c.3039+5G>A (p.Asp1013_Gly1014insVNSSFYSTSQ)
c.2833G>A (p.Gly945Ser)
c.2806G>C (p.Gly936Arg)
c.4254G>A (p.Thr1418=)
c.2357G>T (p.Gly786Val)
c.3193G>A (p.Gly1065Arg)
c.3418-1G>T (p.Arg1139_Gly1140insVSSTERYYRSTCFRCLHFRKIFWHCDVMILSY)
c.2771G>T (p.Gly924Val)
c.2356G>A (p.Gly786Arg)
c.1662+1G>A (p.Gly537_Pro554del)
c.690+2T>A (p.Gly213_Asp230del)
c.3319G>A (p.Gly1107Arg)
c.2122_2148del27 (p.Pro712_Gly720del)
c.2915G>A (p.Gly972Asp)
c.755G>A (p.Gly252Asp)
c.2284-2A>G (p.Gly762_Lys779del)
c.637G>A (p.Gly213Ser)
c.898-1G>C (p.Gly300_Ala317del)
c.582+6T>A (p.Gly177_Pro194del)
c.683G>A (p.Gly228Glu)
c.3220G>A (p.Gly1074Ser)
c.3490G>T (p.Gly1164Trp)
c.3032G>A (p.Gly1011Glu)
c.3203G>T (p.Gly1068Val)
c.2815G>T (p.Gly939Cys)
c.2150G>A (p.Gly717Asp)
c.2995G>C (p.Gly999Arg)
c.1115G>T (p.Gly372Val)
c.3364-2A>C (p.Gly1122_Arg1139del)
c.3140G>A (p.Gly1047Asp)
c.1142G>A (p.Gly381Asp)
c.2185G>A (p.Gly729Arg)
c.2924G>T (p.Gly975Val)
c.2285G>T (p.Gly762Val)
c.3167G>A (p.Gly1056Asp)
c.1862G>T (p.Gly621Val)
c.951+6T>A (p.Gly300_Ala317del)
c.1149+5G>A (p.Gly351_Pro383del)
c.1662+2dupT (p.Gly537_Pro554del)
c.3391G>A (p.Gly1131Ser)
c.1662+1G>T (p.Gly537_Pro554del)
c.1231G>C (p.Gly411Arg)
c.674G>T (p.Gly225Val)
c.3039+6T>C (p.Asp1013_Gly1014insVSSSFYSTSQ)
c.844G>A (p.Gly282Arg)
c.1808G>A (p.Gly603Asp)
c.1761+2T>C (p.Gly555_Asp587del)
c.3061_3063delCTT (p.Leu1021del)
c.2510G>A (p.Gly837Asp)
c.1099_1116del18 (p.Gln367_Gly372del)
c.582+2dupT (p.Gly177_Pro194del)
c.1501G>A (p.Gly501Arg)
c.1906G>C (p.Gly636Arg)
c.3517G>A (p.Gly1173Arg)
c.1150-1G>C (p.Gly384_Met398del)
c.2554-1G>A (p.Gly852Valfs*384)
c.665G>T (p.Gly222Val)
c.2825G>A (p.Gly942Glu)
c.996+1G>A (p.Gly318_Pro332del)
c.629G>T (p.Gly210Val)
c.2553+1delG (p.Gly816_Ala851del)
c.2337+2T>C (p.Gly762_Lys779del)
c.2105G>A (p.Gly702Asp)
c.2888G>A (p.Gly963Asp)
c.1761+5G>A (p.Gly555_Asp587del)
c.1763_1769delGTGCTCCinsTAAG (p.Gly588_Pro590delinsValSer)
c.3223_3240del18 (p.Ala1075_Gly1080del)
c.582+1G>C (p.Gly177_Pro194del)
c.565G>C (p.Gly189Arg)
c.3039+1G>A (p.Asp1013_Gly1014insMSSSFYSTSQ)
c.2708G>A (p.Gly903Glu)
c.3562G>A (p.Gly1188Arg)
c.3093+2T>C (p.Gly1014_Lys1031del)
c.3418-2A>T (p.Arg1139_Gly1140insVSSTERYYRSTCFRCLHFRKIFWHCDVMILSL)
c.3509G>T (p.Gly1170Val)
c.3255+5G>A (p.Gly1068_Pro1085del)
c.1475G>A (p.Gly492Glu)
c.1087G>A (p.Gly363Ser)
c.1052G>T (p.Gly351Val)
c.690+2T>G (p.Gly213_Asp230del)
c.1294-3T>G (p.Gly432_Arg449del)
c.3437G>A (p.Gly1146Glu)
c.547G>C (p.Gly183Arg)
c.2555G>A (p.Gly852Asp)
c.1979G>A (p.Gly660Asp)
c.2294G>T (p.Gly765Val)
c.3122G>T (p.Gly1041Val)
c.3966delG (p.Lys1323Argfs)
c.1330G>A (p.Gly444Arg)
c.2935G>T (p.Glu979Ter)
c.944G>C (p.Gly315Ala)
c.3554G>T (p.Gly1185Val)
c.2482G>T (p.Gly828Trp)
c.1240G>T (p.Gly414Cys)
c.2203G>A (p.Gly735Arg)
c.2726G>T (p.Gly909Val)
c.3508G>A (p.Gly1170Ser)
c.898G>C (p.Gly300Arg)
c.3255+1G>A (p.Gly1068_Pro1085del)
c.3070C>T (p.Arg1024Ter)
c.809G>A (p.Gly270Glu)
c.1808G>T (p.Gly603Val)
c.547G>T (p.Gly183Cys)
c.1466G>A (p.Gly489Glu)
c.1974_1977+4del (p.Gly642_Pro659del)
c.2068G>A (p.Gly690Arg)
c.3482G>T (p.Gly1161Val)
c.3473G>A (p.Gly1158Asp)
c.2770G>T (p.Gly924Cys)
c.3491G>T (p.Gly1164Val)
c.682G>C (p.Gly228Arg)
c.3239G>A (p.Gly1080Asp)
c.718G>C (p.Gly240Arg)
c.3847C>T (p.Gln1283Ter)
c.2869G>T (p.Gly957Cys)
c.2564G>A (p.Gly855Asp)
c.3509G>A (p.Gly1170Asp)
c.755G>T (p.Gly252Val)
c.798+1G>A (p.Phe268Leufs*10)
c.1831_1832delAA (p.Asn611Trpfs)
c.2337G>A (p.Lys779=)
c.2114G>A (p.Gly705Glu)
c.1194+1G>C (p.Gly384_Met398del)
c.2069G>T (p.Gly690Val)
c.2607+5G>T (p.Gly852_Pro869del)
c.2978G>A (p.Gly993Asp)
c.2941G>A (p.Gly981Arg)
c.766delA (p.Ile256Tyrfs)
c.1988G>A (p.Gly663Asp)
c.1347+3A>C (p.Arg449_Gly450insValSerPheThrAlaThrAspLeu+)
c.899G>A (p.Gly300Asp)
c.951+3G>T (p.Gly300_Ala317del)
c.555delT (p.Gly186Valfs)
c.951+2T>C (p.Gly300_Ala317del)
c.2771G>A (p.Gly924Asp)
c.2941G>C (p.Gly981Arg)
c.3417+5G>A (p.Gly1122_Arg1139del+)
c.2842G>A (p.Gly948Arg)
c.556G>A (p.Gly186Ser)
c.3347G>T (p.Gly1116Val)
c.3417+1G>A (p.Gly1122_Arg1139del+)
c.907G>A (p.Gly303Arg)
c.1149+1G>A (p.Gly351_Pro383del)
c.2078G>C (p.Gly693Ala)
c.656G>C (p.Gly219Ala)
c.899G>T (p.Gly300Val)
c.3301G>A (p.Gly1101Arg)
c.2824G>A (p.Gly942Arg)
c.2140G>A (p.Gly714Arg)
c.601G>C (p.Gly201Arg)
c.1915G>C (p.Gly639Arg)
c.2861G>A (p.Gly954Glu)
c.1987G>C (p.Gly663Arg)
c.2780G>A (p.Gly927Asp)
c.3491G>A (p.Gly1164Glu)
c.1189_1194+23del (p.Gly384_Met398del)
c.1744G>C (p.Gly582Arg)
c.2022+2T>C (p.Gly660_Lys674del)
c.3095G>T (p.Gly1032Val)
c.800G>T (p.Gly267Val)
c.951+2T>A (p.Gly300_Ala317del)
c.951_951+14del (p.Gly300_Ala317del)
c.2823+1G>A (p.Gly942Valfs*28)
c.951+6T>C (p.Gly300_Ala317del)
c.951+5G>A (p.Gly300_Ala317del)
c.1916G>A (p.Gly639Glu)
c.2222G>A (p.Gly741Asp)
c.548G>A (p.Gly183Asp)
c.1033G>A (p.Gly345Arg)
c.2276G>A (p.Gly759Asp)
c.2600G>A (p.Gly867Asp)
c.2977G>T (p.Gly993Cys)
c.1347+1G>A
c.3302G>A (p.Gly1101Glu)
c.3149G>A (p.Gly1050Asp)
c.2879G>T (p.Gly960Val)
c.1869+5G>A
c.582+6T>C
c.2553+5G>T
c.3149G>T (p.Gly1050Val)
c.547G>A (p.Gly183Ser)
c.2212G>A (p.Gly738Ser)
c.2490_2516del (p.Glu832_Pro839del)
c.1761+5G>T
c.1655G>A (p.Gly552Glu)
c.746G>A (p.Gly249Asp)
c.1744G>A (p.Gly582Ser)
c.406G>C (p.Gly136Arg)
c.3563G>A (p.Gly1188Glu)
c.3518G>A (p.Gly1173Glu)
c.3041G>A (p.Gly1014Glu)
c.3230G>T (p.Gly1077Val)
c.2437G>A (p.Gly813Ser)
c.1997G>A (p.Gly666Asp)
c.3554G>A (p.Gly1185Asp)
c.2931+1G>A
c.479dupT (p.Lys161Glnfs)
c.1786C>T (p.Arg596Ter)
c.3184C>T (p.Arg1062Ter)
COL5A1 c.4916G>C (p.Cys1639Ser)
c.1588G>A (p.Gly530Ser)
c.3184C>T (p.Arg1062Ter)
c.2374C>T (p.Arg792Ter)
c.4916G>C (p.Cys1639Ser)
c.4466G>A (p.Gly1489Glu)
COL5A2 c.3445G>C (p.Gly1149Arg)
PLOD1 E532del
c.2008C>T (p.Arg670Ter)
c.1836G>C (p.Trp612Cys)
c.1533C>G (p.Tyr511Ter)
c.2032G>A (p.Gly678Arg)
c.955C>T (p.Arg319Ter)
TNXB c.3322G>A (p.Val1108Met)
Ellis Van Creveld EVC2 Asp207Tyr
Gln249Term
Ile283Arg
Lys342Term
Arg399Term
Gln570Term
Gln610Term
Gln619Term
Arg677Term
Gln755Term
Glu789Term
Arg826Term
Arg874Term
Trp884Term
Glu900Term
Gln904Term
Arg950Trp
Ala1045Val
Gln1089Term
Glu1095Term
EVC1 c.919T>C (p.Ser307Pro)
c.1018C>T (p.Arg340Ter)
c.2635C>T (p.Gln879Ter)
c.3025C>T (p.Gln1009Ter)
c.608T>G (p.Ile203Arg)
c.1615C>T (p.Gln539Ter)
c.955C>T (p.Arg319Ter)
c.919T>C (p.Ser307Pro)
c.1328G>A (p.Arg443Gln)
c.735delT (p.Asp246Thrfs)
c.2608C>T (p.Arg870Trp)
c.3793delC (p.Leu1265Tyrfs)
Epidermolysis bullosa KRT5 c.1414A>T (p.Lys472Ter)
c.1429G>T (p.Glu477Ter)
c.1429G>A (p.Glu477Lys)
c.1252G>A (p.Glu418Lys)
c.556G>T (p.Val186Leu)
c.541T>C (p.Ser181Pro)
c.20T>C (p.Val7Ala)
c.523C>T (p.Leu175Phe)
c.579C>G (p.Asn193Lys)
c.519G>C (p.Lys173Asn)
c.987C>A (p.Asn329Lys)
c.1424A>G (p.Glu475Gly)
c.508G>A (p.Glu170Lys)
c.508G>A (p.Glu170Lys)
c.14C>A (p.Ser5Ter)
c.980T>C (p.Met327Thr)
c.1388T>C (p.Leu463Pro)
c.482T>G (p.Ile161Ser)
c.74C>T (p.Pro25Leu)
NC_000012.12:g.52515066delC
c.431A>C (p.Glu144Ala)
KRT14 c.54C>A (p.Cys18Ter)
c.1264G>A (p.Glu422Lys)
c.1256T>A (p.Leu419Gln)
c.1243T>C (p.Tyr415His)
c.815T>G (p.Met272Arg)
c.612T>A (p.Tyr204Ter)
c.357G>A (p.Met119Ile)
c.357G>A (p.Met119Ile)
c.431A>C (p.Glu144Ala)
c.1151T>C (p.Leu384Pro)
c.368A>G (p.Asn123Ser)
c.356T>C (p.Met119Thr)
c.374G>A (p.Arg125His)
c.373C>T (p.Arg125Cys)
COL7A1 G2316R
c.425A>G (p.Lys142Arg)
c.8479C>T (p.Gln2827Ter)
c.5443G>C (p.Gly1815Arg)
c.4783G>C (p.Gly1595Arg)
c.6205C>T (p.Arg2069Cys)
c.706C>T (p.Arg236Ter)
c.6218G>T (p.Gly2073Val)
c.4888C>T (p.Arg1630Ter)
c.5096C>T (p.Pro1699Leu)
c.4039G>C (p.Gly1347Arg)
c.7867G>T (p.Gly2623Cys)
c.6859G>A (p.Gly2287Arg)
c.6724G>A (p.Gly2242Arg)
c.6752G>A (p.Gly2251Glu)
c.6752G>A (p.Gly2251Glu)
c.4565G>A (p.Gly1522Glu)
c.6227G>A (p.Gly2076Asp)
c.6110G>A (p.Gly2037Glu)
c.6044G>A (p.Gly2015Glu)
c.6127G>A (p.Gly2043Arg)
c.4556G>A (p.Gly1519Asp)
c.706C>T (p.Arg236Ter)
c.8245G>A (p.Gly2749Arg)
c.7411C>T (p.Arg2471Ter)
c.7957G>A (p.Gly2653Arg)
c.6017G>A (p.Gly2006Asp)
c.6091G>A (p.Gly2031Ser)
c.5443G>C (p.Gly1815Arg)
c.4783G>C (p.Gly1595Arg)
c.6752G>A (p.Gly2251Glu)
c.6007G>A (p.Gly2003Arg)
c.933C>A (p.Tyr311Ter)
c.6118G>A (p.Gly2040Ser)
c.8393T>A (p.Met2798Lys)
c.6859G>A (p.Gly2287Arg)
c.6187C>T (p.Arg2063Trp)
c.6100G>A (p.Gly2034Arg)
PLEC c.6955C>T (p.Arg2319Ter)
c.6169C>T (p.Gln2057Ter)
c.9085C>T (p.Arg3029Ter)
c.913C>T (p.Gln305Ter)
c.5998C>T (p.Arg2000Trp)
Familial Mediterranean fever MEFV c.2040G>A (p.Met680Ile)
c.1432C>T (p.His478Tyr)
c.1318C>G (p.Gln440Glu)
c.2074_2076delATA (p.Ile692del)
c.941G>A (p.Arg314His)
c.1016C>T (p.Ser339Phe)
c.1958G>A (p.Arg653His)
c.2282G>A (p.Arg761His)
c.800C>T (p.Thr267Ile)
c.1437C>G (p.Phe479Leu)
c.501G>C (p.Glu167Asp)
c.2080A>G (p.Met694Val)
c.2082G>A (p.Met694Ile)
c.2084A>G (p.Lys695Arg)
c.2040G>C (p.Met680Ile)
c.2084A>G (p.Lys695Arg)
c.2082G>A (p.Met694Ile)
c.2177T>C (p.Val726Ala)
Fanconi anemia FANCA c.3788_3790del (p.Phe1263_Ser1264delinsSer)
c.513G>A (p.Trp171Ter)
c.1115_1118del (p.Val372_Gly373delinsAlafs)
FANCC c.1487T>G (p.Leu496Arg)
c.553C>T (p.Arg185Ter)
c.1642C>T (p.Arg548Ter)
c.37C>T (p.Gln13Ter)
c.67delG (p.Asp23Ilefs)
c.1661T>C (p.Leu554Pro)
c.456+4A>T
FANCG c.1183_1192del (p.Glu395_Leu398delinsTrpfs)
c.1066C>T (p.Gln356Ter)
c.313G>T (p.Glu105Ter)
c.1794_1803del (p.Ser598_Arg601delinsSerfs)
c.925-2A>G
c.307+1G>C
c.1480+1G>C
Myasthenic syndrome, congenital, fast-channel CHRNA1 c.761G>T (p.Arg254Leu)
c.529G>C (p.Val177Leu)
c.832T>G (p.Phe278Val)
c.988G>A (p.Val330Ile)
c.901T>C (p.Phe301Leu)
c.1389C>G (p.Cys463Trp)
c.880G>T (p.Val294Phe)
c.601G>A (p.Val201Met)
c.786C>G (p.Asn262Lys)
c.941G>T (p.Ser314Ile)
c.896C>T (p.Thr299Ile)
c.592G>A (p.Gly198Ser)
c.812C>A (p.Pro271Gln)
c.488C>T (p.Ser163Leu)
c.37G>A (p.Gly13Arg)
CHRNB1 c.853C>A (p.Leu285Met)
c.865G>A (p.Val289Met)
CHRND c.188T>C (p.Leu63Pro)
c.1390C>T (p.Arg464Ter)
c.283T>C (p.Phe95Leu)
c.234G>A (p.Trp78Ter)
c.238G>A (p.Glu80Lys)
c.236T>A (p.Ile79Lys)
c.812C>A (p.Pro271Gln)
c.866C>T (p.Ser289Phe)
RAPSN c.484G>A (p.Glu162Lys)
c.133G>A (p.Val45Met)
c.490C>T (p.Arg164Cys)
c.848T>C (p.Leu283Pro)
c.807C>A (p.Tyr269Ter)
c.41T>C (p.Leu14Pro)
c.264C>A (p.Asn88Lys
DOK7 c.601C>T (p.Arg201Ter)
c.539G>C (p.Gly180Ala)
Galactosemia GALT
c.904+1G>T
c.398_399dupCC (p.Pro133delinsProProfs)
c.220_221delCT (p.Leu74Valfs)
c.1132A>G (p.Ile378Val)
c.1108C>T (p.Gln370Ter)
c.1060-1G>A
c.1057C>T (p.Gln353Ter)
c.1051delC (p.Pro351Leufs)
c.1047delC (p.Leu349Leu=fs)
c.1034C>A (p.Ala345Asp)
c.1018G>A (p.Glu340Lys)
c.998G>T (p.Arg333Leu)
c.980T>C (p.Leu327Pro)
c.976delC (p.Leu326Serfs)
c.968A>G (p.Tyr323Cys)
c.948G>A (p.Trp316Ter)
c.904+5G>A
c.883C>A (p.Pro295Thr)
c.872A>T (p.Glu291Val)
c.854A>G (p.Lys285Arg)
c.836T>G (p.Met279Arg)
c.815G>A (p.Arg272His)
c.812A>G (p.Glu271Gly)
c.777G>A (p.Arg259=)
c.756G>T (p.Gln252His)
c.748C>A (p.Pro250Thr)
c.719_728delTAGTACTGGT (p.Leu240_Val243delinsSerfs)
c.691C>T (p.Arg231Cys)
c.680T>C (p.Leu227Pro)
c.676C>G (p.Leu226Val)
c.652C>G (p.Leu218Val)
c.635A>C (p.Gln212Pro)
c.565-2A>G
c.564+1G>A
c.556C>T (p.His186Tyr)
c.554C>T (p.Pro185Leu)
c.550C>G (p.His184Asp)
c.542C>T (p.Ser181Phe)
c.524G>A (p.Gly175Asp)
c.509T>C (p.Ile170Thr)
c.505C>A (p.Gln169Lys)
c.502G>T (p.Val168Leu)
c.496C>G (p.Pro166Ala)
c.490C>T (p.Gln164Ter)
c.482T>C (p.Leu161Pro)
c.462G>A (p.Trp154Ter)
c.460T>C (p.Trp154Arg)
c.396C>A (p.His132Gln)
c.392T>G (p.Phe131Cys)
c.308A>G (p.Gln103Arg)
c.292G>C (p.Asp98His)
c.285T>G (p.Phe95Leu)
c.265T>C (p.Tyr89His)
c.265T>G (p.Tyr89Asp)
c.247G>A (p.Gly83Arg)
c.207_214delCCCTCTCA (p.Asp69_Asn72delinsGluProfs)
c.197C>T (p.Pro66Leu)
c.160C>T (p.Gln54Ter)
c.107C>T (p.Pro36Leu)
c.100T>A (p.Tyr34Asn)
c.91C>A (p.His31Asn)
c.90G>C (p.Gln30His)
c.41delCinsTT (p.Ala14delinsValValfs)
c.1A>G (p.Met1Val)
c.959C>T (p.Ala320Val)
c.687+1G>T
c.385A>T (p.Met129Leu)
c.203A>C (p.His68Pro)
c.82G>A (p.Asp28Asn)
c.1140A>C (p.Ter380Cys)
c.1138T>C (p.Ter380Arg)
c.1098C>A (p.Tyr366Ter)
c.1072delC (p.Leu358Terfs)
c.1048A>G (p.Thr350Ala)
c.1024C>A (p.Leu342Ile)
c.1018G>T (p.Glu340Ter)
c.1006A>T (p.Met336Leu)
c.1001A>G (p.Lys334Arg)
c.998G>A (p.Arg333Gln)
c.989C>T (p.Ala330Val)
c.986C>T (p.Ser329Phe)
c.983G>A (p.Arg328His)
c.979delC (p.Leu327Cysfs)
c.970C>T (p.Pro324Ser)
c.967T>C (p.Tyr323His)
c.967T>G (p.Tyr323Asp)
c.961C>T (p.His321Tyr)
c.958G>A (p.Ala320Thr)
c.952delC (p.Leu318Cysfs)
c.951G>T (p.Gln317His)
c.950A>G (p.Gln317Arg)
c.949delC (p.Gln317Serfs)
c.922G>A (p.Glu308Lys)
c.920C>A (p.Ser307Ter)
c.882delT (p.Phe294Phe=fs)
c.881T>A (p.Phe294Tyr)
c.871G>A (p.Glu291Lys)
c.866T>G (p.Leu289Arg)
c.865C>T (p.Leu289Phe)
c.857A>G (p.Tyr286Cys)
c.844C>G (p.Leu282Val)
c.833T>A (p.Ile278Asn)
c.824delT (p.Leu275Glnfs)
c.821-2A>G
c.814C>G (p.Arg272Gly)
c.793C>G (p.Pro265Ala)
c.790_792delCTAinsTAG (p.Leu264Ter)
c.785G>C (p.Arg262Pro)
c.779_790del (p.His260_Arg263del)
c.770C>T (p.Pro257Leu)
c.768_770delGCC (p.Leu256_Pro257delinsLeu)
c.752A>G (p.Tyr251Cys)
c.747G>A (p.Trp249Ter)
c.745T>C (p.Trp249Arg)
c.697G>C (p.Val233Leu)
c.692G>A (p.Arg231His)
c.687+2T>C
c.687G>T (p.Lys229Asn)
c.677T>C (p.Leu226Pro)
c.667C>A (p.Arg223Ser)
c.658dupG (p.Glu220delinsGlyValfs)
c.658G>A (p.Glu220Lys)
c.652delC (p.Leu218Terfs)
c.650T>C (p.Leu217Pro)
c.634C>T (p.Gln212Ter)
c.626A>C (p.Tyr209Ser)
c.619C>T (p.Gln207Ter)
c.611G>C (p.Arg204Pro)
c.602G>A (p.Arg201His)
c.601C>T (p.Arg201Cys)
c.598delC (p.Gln200Serfs)
c.595G>A (p.Ala199Thr)
c.594T>G (p.Ile198Met)
c.575G>A (p.Ser192Asn)
c.574A>G (p.Ser192Gly)
c.554C>A (p.Pro185His)
c.553C>T (p.Pro185Ser)
c.552C>A (p.His184Gln)
c.541T>G (p.Ser181Ala)
c.539G>T (p.Cys180Phe)
c.536G>A (p.Gly179Asp)
c.528_529insG (p.Ala176_Met177delinsAlaAspAspfs)
c.509T>A (p.Ile170Asn)
c.508-5G>C
c.507+2T>C
c.499T>C (p.Trp167Arg)
c.460T>G (p.Trp154Gly)
c.452T>C (p.Val151Ala)
c.448G>C (p.Val150Leu)
c.443G>A (p.Arg148Gln)
c.442C>T (p.Arg148Trp)
c.442C>G (p.Arg148Gly)
c.428C>T (p.Ser143Leu)
c.425T>C (p.Met142Thr)
c.424A>G (p.Met142Val)
c.416T>C (p.Leu139Pro)
c.413C>T (p.Thr138Met)
c.410dupT (p.Thr138Asnfs)
c.404C>G (p.Ser135Trp)
c.400delT (p.Trp134Glyfs)
c.394C>T (p.His132Tyr)
c.389G>A (p.Cys130Tyr)
c.386T>C (p.Met129Thr)
c.377+1G>T
c.374T>C (p.Val125Ala)
c.368G>A (p.Arg123Gln)
c.354A>C (p.Gln118His)
c.350T>C (p.Phe117Ser)
c.341A>T (p.His114Leu)
c.337G>A (p.Asp113Asn)
c.336T>C (p.Ser112Ser=)
c.333_334insA (p.Pro111_Ser112delinsProLysTerfs)
c.329-2A>C
c.328+2T>C
c.292G>A (p.Asp98Asn)
c.367C>G (p.Arg123Gly)
c.290A>G (p.Asn97Ser)
c.253-2A>G
c.241G>A (p.Ala81Thr)
c.238C>T (p.Arg80Ter)
c.220_221insG (p.Leu74delinsArgValfs)
c.199C>T (p.Arg67Cys)
c.197C>A (p.Pro66His)
c.163G>T (p.Gly55Cys)
c.152G>A (p.Arg51Gln)
c.152G>T (p.Arg51Leu)
c.134C>T (p.Ser45Leu)
c.134_138delCAGCT (p.Ser45_Ala46delinsSerfs)
c.130G>T (p.Val44Leu)
c.113A>C (p.Gln38Pro)
c.98G>A (p.Arg33His)
c.95T>A (p.Ile32Asn)
c.82G>C (p.Asp28His)
c.82G>T (p.Asp28Tyr)
c.67A>G (p.Thr23Ala)
c.27G>C (p.Gln9His)
c.25C>T (p.Gln9Ter)
c.18delC (p.Thr6Thr=fs)
c.974C>T (p.Pro325Leu)
c.752A>C (p.Tyr251Ser)
c.379A>G (p.Lys127Glu)
c.580T>C (p.Phe194Leu)
c.997C>G (p.Arg333Gly)
c.607G>A (p.Glu203Lys)
c.547C>A (p.Pro183Thr)
c.512T>C (p.Phe171Ser)
c.221T>C (p.Leu74Pro)
c.130G>A (p.Val44Met)
c.425T>A (p.Met142Lys)
c.957C>A (p.His319Gln)
c.563A>G (p.Gln188Arg)
C126WfsX6
c.1030C>A (p.Gln344Lys)
c.947G>A (p.Trp316Ter)
NM_000155.3:c.-119_-116del
c.610C>T (p.Arg204Ter)
c.855G>T (p.Lys285Asn)
c.626A>G (p.Tyr209Cys)
c.404C>T (p.Ser135Leu)
c.584T>C (p.Leu195Pro)
NM_000155.3:c.-119_-116del
c.997C>T (p.Arg333Trp)
R258C
Gaucher disease GBA c.870C>A (p.Phe290Leu)
c.509G>T (p.Arg170Leu)
c.887G>A (p.Arg296Gln)
c.1192C>T (p.Arg398Ter)
c.1049A>G (p.His350Arg)
c.1309G>T (p.Val437Phe)
c.475C>T (p.Arg159Trp)
c.1342G>C (p.Asp448His)
c.27+1G>A
c.93_94insG (p.Leu31_Gln32delinsLeuAlaGlyfs)
c.887G>A (p.Arg296Gln)
c.754T>A (p.Phe252Ile)
c.703T>C (p.Ser235Pro)
c.680A>G (p.Asn227Ser)
c.509G>T (p.Arg170Leu)
c.476G>A (p.Arg159Gln)
c.1604G>A (p.Arg535His)
c.1505G>A (p.Arg502His)
c.1504C>T (p.Arg502Cys)
c.1448T>C (p.Leu483Pro)
c.1343A>T (p.Asp448Val)
c.1297G>T (p.Val433Leu)
c.1263_1317del55 (p.Asn421_Ser439delinsAsnfs)
c.1226A>C (p.Asn409Thr)
c.1263_1317del55 (p.Asn421_Ser439delinsAsnfs)
c.532delC (p.Pro178Leufs)
c.1246G>A (p.Gly416Ser)
c.476G>A (p.Arg159Gln)
c.1342G>C (p.Asp448His)
c.1342G>C (p.Asp448His)
c.1448T>C (p.Leu483Pro)
c.1174C>G (p.Arg392Gly)
c.1141T>G (p.Cys381Gly)
c.354G>C (p.Lys118Asn)
c.1090G>A (p.Gly364Arg)
c.1343A>T (p.Asp448Val)
c.754T>A (p.Phe252Ile)
c.754T>A (p.Phe252Ile)
c.1297G>T (p.Val433Leu)
c.680A>G (p.Asn227Ser)
c.27+1G>A
c.1361C>G (p.Pro454Arg)
c.1085C>T (p.Thr362Ile)
c.1504C>T (p.Arg502Cys)
c.1504C>T (p.Arg502Cys)
c.1228C>G (p.Leu410Val)
c.354G>C (p.Lys118Asn)
c.1246G>A (p.Gly416Ser)
c.1319C>T (p.Pro440Leu)
c.1208G>C (p.Ser403Thr)
c.1053G>T (p.Trp351Cys)
c.1043C>T (p.Ala348Val)
c.763T>G (p.Phe255Val)
c.160G>T (p.Val54Leu)
c.1604G>A (p.Arg535His)
c.1549G>A (p.Gly517Ser)
c.751T>C (p.Tyr251His)
c.481C>T (p.Pro161Ser)
c.72delC (p.Leu25Serfs)
c.983C>T (p.Pro328Leu)
c.764T>A (p.Phe255Tyr)
c.254G>A (p.Gly85Glu)
c.586A>C (p.Lys196Gln)
c.259C>T (p.Arg87Trp)
c.754T>A (p.Phe252Ile)
c.1297G>T (p.Val433Leu)
c.1263_1317del55 (p.Asn421_Ser439delinsAsnfs)
c.680A>G (p.Asn227Ser)
c.27+1G>A
c.84dupG (p.Leu29Alafs*18)
c.1504C>T (p.Arg502Cys)
c.1246G>A (p.Gly416Ser)
c.1085C>T (p.Thr362Ile)
c.476G>A (p.Arg159Gln)
c.1342G>C (p.Asp448His)
c.1342G>C (p.Asp448His)
c.1342G>C (p.Asp448His)
c.1226A>G (p.Asn409Ser)
c.1448T>C (p.Leu483Pro)
c.1448T>C (p.Leu483Pro)
c.1448T>C (p.Leu483Pro)
c.1342G>C (p.Asp448His)
c.1342G>C (p.Asp448His)
c.1448T>C (p.Leu483Pro)
c.1448T>C (p.Leu483Pro)
c.535G>C (p.Asp179His)
c.1448T>C (p.Leu483Pro)
c.1154G>T (p.Cys385Phe)
glucose-6-phosphate dehydrogenase deficiency G6PD Glu3Lys
Val12Leu
Gly14Arg
His32Asp
His32Arg
Ile33Met
Met37Thr
Ala44Gly
Ala44Thr
Ile48Thr
Pro50Ser
Trp53Cys
Arg57Trp
Asp58Asn
Pro62Leu
Phe66Ile
Phe66Tyr
Val68Met
Tyr70His
Tyr70Cys
Leu75Pro
Arg81Cys
Arg81His
Pro92Ser
Arg104His
Ser106Cys
Val108Glu
Asp113Asn
His124Arg
Asn126Asp
Leu128Pro
Leu128Arg
Gly131Val
Asn135Thr
Asn135Ser
Arg136Cys
Glu148Lys
His155Asn
His155Asp
Glu156Lys
Cys158Tyr
Met159Ile
Gly163Ser
Gly163Asp
Asn165Asp
Arg166His
Pro172Ser
Phe173Leu
Phe173Leu
Asp176Gly
Ser179Cys
Asp181Val
Arg182Trp
Ser188Phe
Phe191Leu
Arg198Cys
Arg198His
Arg198Pro
Ile199Val
Met212Val
Val213Leu
Phe216Leu
Ile220Met
Arg227Trp
Arg227Gln
Arg227Leu
Asp228Asn
Cys232Tyr
Leu235Phe
Lys238Arg
Arg257Gly
Cys269Tyr
Glu274Lys
Pro276Leu
Pro276Ser
Ser278Pro
Ser278Phe
Thr279Ala
Thr279Ser
Asp282His
Asp282Tyr
Asp283Glu
Val284Ala
Arg285Cys
Arg285His
Val291Met
Val303Leu
Val304Phe
Gly306Ser
Gln307His
Gly310Glu
Glu317Lys
Gly321Glu
Tyr322His
Leu323Pro
Pro326His
Ala335Thr
Ala335Asp
Thr336Ala
Leu342Phe
Asp350His
Gly351Val
Gly351Trp
Pro353Ser
Ile355Thr
Ala361Val
Ala361Thr
Asn363Lys
Asn363Lys
Lys366Glu
Ile380Thr
Ile380Val
Phe381Ile
Phe381Leu
Cys385Arg
Cys385Phe
Cys385Trp
Lys386Glu
Arg387His
Arg387Cys
Asn388Asp
Glu389Gly
Ile392Thr
Arg393Gly
Arg393His
Val394Leu
Pro396Leu
Pro396Ala
Glu398Lys
Glu398Gly
Thr402Asn
Met405Ile
Lys407Thr
Pro409Arg
Pro409Ser
Gly410Asp
Gly410Ala
Gly410Cys
Met411Val
Glu416Lys
Leu422Val
Tyr428Term
Val431Met
Val431Gly
Arg439Pro
Leu440Phe
Gly447Arg
Gly447Val
Ser448Gly
Gln449His
Val453Glu
Arg454His
Arg454Cys
Asp456His
Arg459Pro
Arg459Leu
Ala461Thr
Arg463His
Arg463Ser
Arg463Cys
Pro467Arg
Ile472Leu
Pro481Arg
Gly488Ser
Gly488Val
Pro489Leu
Pro489Ser
Phe501Cys
Glycogen storage disease type II GAA c.525delT (p.Glu176Argfs)
c.307T>G (p.Cys103Gly)
c.2544delC (p.Lys849Argfs)
c.2512C>T (p.Gln838Ter)
c.2105G>T (p.Arg702Leu)
c.2066_2070dupAGCCG (p.Ala691Serfs)
c.2012T>G (p.Met671Arg)
c.1465G>A (p.Asp489Asn)
c.877G>A (p.Gly293Arg)
c.710C>T (p.Ala237Val)
c.1634C>T (p.Pro545Leu)
c.2707_2709delAAG (p.Lys903del)
c.1585_1586delTCinsGT (p.Ser529Val)
c.896T>G (p.Leu299Arg)
c.2173C>T (p.Arg725Trp)
c.1561G>A (p.Glu521Lys)
c.953T>C (p.Met318Thr)
c.-32-13T>G
c.1935C>A (p.Asp645Glu)
c.1935C>A (p.Asp645Glu)
c.1927G>A (p.Gly643Arg)
c.2560C>T (p.Arg854Ter)
c.525delT (p.Glu176Argfs)
c.-32-13T>G
c.2482_2646del165 (p.Gly828_Asn882del)
Gorlin syndrome PTCH1 c.1081C>T (p.Gln361Ter)
Hemophilia A FVIII c.1172G>A (p.Arg391His)
c.1754T>C (p.Ile585Thr)
c.5122C>T (p.Arg1708Cys)
C2105Y
F2101L
W2046R
W1942*
L1756F
G1750R
E161*
F658L
Y636*
W585C
G479R
S373*
C329S
W323*
G259R
c.6956C>T (p.Pro2319Leu)
c.6865C>T (p.Gln2289Ter)
c.6794A>G (p.Gln2265Arg)
c.6682C>G (p.Arg2228Gly)
c.6683G>T (p.Arg2228Leu)
c.6631G>C (p.Ala2211Pro)
c.6544C>T (p.Arg2182Cys)
c.6545G>A (p.Arg2182His)
c.6518C>T (p.Thr2173Ile)
c.6515C>A (p.Pro2172Gln)
c.6533G>T (p.Arg2178Leu)
c.6413C>A (p.Ser2138Tyr)
c.6278A>G (p.Asp2093Gly)
c.6263C>T (p.Ser2088Phe)
c.6113A>G (p.Asn2038Ser)
c.5938C>T (p.His1980Tyr)
c.5936G>T (p.Gly1979Val)
c.5879G>T (p.Arg1960Leu)
c.5677C>T (p.Gln1893Ter)
c.5593G>T (p.Asp1865Tyr)
c.5443C>T (p.Gln1815Ter)
c.5408C>A (p.Ser1803Tyr)
c.5398C>G (p.Arg1800Gly)
c.5398C>T (p.Arg1800Cys)
c.5336G>A (p.Gly1779Glu)
c.5323T>G (p.Leu1775Val)
c.5143C>G (p.Arg1715Gly)
c.2149C>T (p.Arg717Trp)
c.1988C>T (p.Ala663Val)
c.1957G>A (p.Val653Met)
c.1958T>C (p.Val653Ala)
c.1892A>G (p.Asn631Ser)
c.1814A>C (p.Tyr605Ser)
c.1808G>T (p.Ser603Ile)
c.1730C>T (p.Ser577Phe)
c.1726G>T (p.Glu576Ter)
c.1682A>G (p.Asp561Gly)
c.1660A>G (p.Ser554Gly)
c.1649G>A (p.Arg550His)
c.1648C>G (p.Arg550Gly)
c.1630G>A (p.Asp544Asn)
c.1481T>C (p.Ile494Thr)
c.980T>C (p.LEU327PRO)
c.940A>G (p.Thr314Ala)
c.935T>C (p.Phe312Ser)
c.923C>T (p.Ser308Leu)
c.902G>T (p.Arg301Leu)
c.896A>T (p.Asn299Ile)
c.854T>G (p.Val285Gly)
c.670G>T (p.Gly224Trp)
c.665A>T (p.Asp222Val)
c.554A>C (p.Lys185Thr)
c.541G>A (p.Val181Met)
c.493C>T (p.Pro165Ser)
c.491G>T (p.Gly164Val)
c.404A>G (p.Asp135Gly)
c.398A>G (p.Tyr133Cys)
c.350T>G (p.Leu117Arg)
c.328A>G (p.Met110Val)
c.311T>A (p.Val104Asp)
c.296T>A (p.Val99Asp)
c.275G>T (p.Gly92Val)
c.266G>A (p.Gly89Asp)
c.121G>T (p.Gly41Cys)
c.89A>T (p.Glu30Val)
c.77T>G (p.Leu26Arg)
c.6955C>T (p.Pro2319Ser)
c.5167G>A (p.Glu1723Lys)
c.566C>T (p.Ser189Leu)
c.6554T>C (p.Leu2185Ser)
c.5183A>G (p.Tyr1728Cys)
c.6403C>T (p.Arg2135Ter)
c.6976C>T (p.Arg2326Ter)
c.104A>G (p.Tyr35Cys)
c.592T>G (p.Cys198Gly)
c.6968G>A (p.Arg2323His)
c.6533G>A (p.Arg2178His)
c.6016G>T (p.Glu2006Ter)
c.5710G>A (p.Glu1904Lys)
c.5618C>G (p.Pro1873Arg)
c.5600A>G (p.His1867Arg)
c.5593G>A (p.Asp1865Asn)
c.5558C>T (p.Ala1853Val)
c.5479A>T (p.Lys1827Ter)
c.5533A>C (p.Thr1845Pro)
c.5530C>T (p.Pro1844Ser)
c.5526G>A (p.Met1842Ile)
c.5123G>A (p.Arg1708His)
c.4825dupA (p.Thr1609Asnfs)
c.2383A>T (p.Arg795Ter)
c.2215G>A (p.Glu739Lys)
c.1418A>G (p.Tyr473Cys)
c.1417T>C (p.Tyr473His)
c.1348T>A (p.Tyr450Asn)
c.1331A>G (p.Lys444Arg)
c.1293G>T (p.Leu431Phe)
c.1226A>G (p.Glu409Gly)
c.1174T>C (p.Ser392Pro)
c.1175C>T (p.Ser392Leu)
c.986G>A (p.Cys329Tyr)
c.881C>T (p.Thr294Ile)
c.5372T>C (p.Met1791Thr)
c.1336C>T (p.Arg446Ter)
c.985T>C (p.Cys329Arg)
c.5821A>G (p.Asn1941Asp)
c.1063C>T (p.Arg355Ter)
c.6404G>C (p.Arg2135Pro)
c.6977G>A (p.Arg2326Gln)
c.5096A>T (p.Tyr1699Phe)
c.5113C>T (p.Gln1705Ter)
c.5879G>A (p.Arg1960Gln)
c.6977G>T (p.Arg2326Leu)
c.6496C>T (p.Arg2166Ter)
W2229C
c.5422C>T (p.Leu1808Phe)
c.5399G>A (p.Arg1800His)
c.5143C>T (p.Arg1715Ter)
c.2167G>A (p.Ala723Thr)
c.1750C>A (p.Gln584Lys)
c.2114-?_5219+?del (p.Trp(?_707)_Trp(707_?)Argfs)
c.1171C>T (p.Arg391Cys)
c.872A>G (p.Glu291Gly)
c.6682C>T (p.Arg2228Ter)
c.6967C>T (p.Arg2323Cys)
c.6912_6916delAAATC (p.Gly2304_Gln2306delinsGlyArgfs)
c.6794_6795delAG (p.Gln2265Argfs)
c.6699delG (p.Gly2233Gly=fs)
c.6464_6465delAA (p.Lys2155Thrfs)
c.6412_6413delTC (p.Ser2138Hisfs)
c.6049delG (p.Val2017Trpfs)
c.5719_5720insA (p.Ser1907delinsLysLeufs)
c.5622_5623insT (p.Leu1874_Leu1875delinsLeuSerGlyfs)
c.4328_4331delAAGA (p.Lys1443_Asp1444delinsIlefs)
c.4293_4297delCTCTT (p.Asn1431_Ser1433delinsAsnSerfs)
c.4121_4124delTAGA (p.Ile1374_Asp1375delinsThrfs)
c.3548_3549delAA (p.Lys1183Argfs)
c.3169G>A (p.Glu1057Lys)
c.2962_2963delAG (p.Ser988Trpfs)
c.2945_2946insA (p.Asn982delinsLysCysfs)
c.1729T>C (p.Ser577Pro)
c.1596_1597insG (p.Trp532_Thr533delinsTrpAspSerfs)
c.1293delG (p.Leu431Leu=fs)
c.1197_1198delAA (p.Lys399_Thr400delinsAsnLeufs)
c.1078_1079delGA (p.Glu360Argfs)
c.943delG (p.Ala315Leufs)
c.907delG (p.Ala303Argfs)
c.849delT (p.Pro283Pro=fs)
c.687_688delAG (p.Ser229_Glu230delinsSerAsnfs)
c.364_365delGT (p.Val122Ilefs)
c.199_200delAA (p.Lys67Aspfs)
c.1075_1078delAATG (p.Asn359_Glu360delinsLysfs)
c.1033G>T (p.Val345Leu)
c.5878C>T (p.Arg1960Ter)
c.601+1632G>A
c.1804C>T (p.Arg602Ter)
c.1648C>T (p.Arg550Cys)
c.1636C>T (p.Arg546Trp)
c.902G>A (p.Arg301His)
c.5822A>G (p.Asn1941Ser)
c.4858delC (p.Leu1620Terfs)
c.3692delC (p.Pro1231Leufs)
c.3637delA (p.Ile1213Phefs)
c.43C>T (p.Arg15Ter)
c.1834C>T (p.Arg612Cys)
c.4379delA (p.Asn1460Ilefs)
c.5122C>T (p.Arg1708Cys)
c.6683G>A (p.Arg2228Gln)
c.6506G>A (p.Arg2169His)
c.5953C>T (p.Arg1985Ter)
c.6532C>T (p.Arg2178Cys)
Hereditary hemochromatosis HFE c.989G>T (p.Arg330Met)
c.381A>C (p.Gln127His)
c.277G>C (p.Gly93Arg)
c.314T>C (p.Ile105Thr)
c.848A>C (p.Gln283Pro)
c.193A>T (p.Ser65Cys)
c.187C>G (p.His63Asp)
c.187C>G (p.His63Asp)
c.845G>A (p.Cys282Tyr)
c.845G>A (p.Cys282Tyr)
Hereditary multiple exostoses EXT1 c.357C>A (p.Tyr119Ter)
c.1019G>T (p.Arg340Leu)
c.1018C>T (p.Arg340Cys)
c.1016G>A (p.Gly339Asp)
EXT2 c.871C>T (p.Gln291Ter)
c.765C>G (p.Tyr255Ter)
c.778G>A (p.Asp260Asn)
c.613C>T (p.Gln205Ter)
Hirschsprung EDN3 Ala17Thr
Glu48Asp
Glu55Term
Arg93Gly
Asp166Glu
Cys173Arg
Ala224Thr
 EDNRB c.43A>T (p.Lys15Ter)
c.914G>A (p.Ser305Asn)
c.824G>A (p.Trp275Ter)
c.828G>T (p.Trp276Cys)
c.169G>A (p.Gly57Ser)
RET c.3116C>T (p.Pro1039Leu)
c.1826G>A (p.Cys609Tyr)
c.1860C>G (p.Cys620Trp)
c.1880-2A>G
Holoprosencephaly SHH c.708C>A (p.Ser236Arg)
c.664G>A (p.Asp222Asn)
c.625C>T (p.Gln209Ter)
c.562G>C (p.Glu188Gln)
c.474C>G (p.Tyr158Ter)
c.300G>C (p.Gln100His)
c.38_45delTCTCCTCG (p.Val13Alafs)
c.9_10insGCTG (p.Leu4Alafs)
c.1210_1224delGGGGACCGCGGGGGC (p.Asp405_Gly409del)
c.383G>A (p.Trp128Ter)
c.766G>T (p.Glu256Ter)
c.1132_1140delGCGCCCTTC (p.Ala378_Phe380del)
c.1270C>G (p.Pro424Ala)
c.1147G>A (p.Ala383Thr)
c.850G>T (p.Glu284Ter)
c.788_808del21 (p.Arg263_Ala269del)
c.676G>A (p.Ala226Thr)
c.671T>A (p.Val224Glu)
c.313A>T (p.Lys105Ter)
c.298C>T (p.Gln100Ter)
c.345C>A (p.Asn115Lys)
c.263A>T (p.Asp88Val)
c.349T>C (p.Trp117Arg)
c.349T>G (p.Trp117Gly)
c.91G>A (p.Gly31Arg)
c.869G>A (p.Gly290Asp)
c.869G>A (p.Gly290Asp)
ZIC2 c.1091_1092delAG (p.Gln364Leufs)
c.936delG (p.Lys312Asnfs)
c.1040_1046delCCGAGAA (p.Glu348Serfs)
c.1318dupC (p.Leu440Profs)
GLI2 c.4558G>A (p.Asp1520Asn)
c.1885G>A (p.Glu629Lys)
c.4663T>C (p.Ser1555Pro)
c.1435C>G (p.Arg479Gly)
c.1323G>A (p.Trp441Ter)
c.864_865delCC (p.His289Profs)
PTCH c.2479A>G (p.Ser827Gly)
c.1177G>A (p.Ala393Thr)
c.3155C>T (p.Thr1052Met)
c.2183C>T (p.Thr728Met)
DHCR7 Gly344Asp
DISP1 Trp475Term
Tyr734Term
Holoprosencephaly nonsyndromic SIX3 c.696_705delCCCCAGCAAG (p.Asn232Lysfs)
c.339G>T (p.Trp113Cys)
c.206G>A (p.Gly69Asp)
c.109G>T (p.Gly37Cys)
c.385G>T (p.Glu129Ter)
c.749T>C (p.Val250Ala)
c.770G>C (p.Arg257Pro)
c.676C>G (p.Leu226Val)
c.109G>T (p.Gly37Cys)
c.385G>T (p.Glu129Ter)
Hypochondroplasia FGFR3 c.1950G>C (p.Lys650Asn)
K652Q
c.1950G>T (p.Lys650Asn)
c.1620C>G (p.Asn540Lys)
c.1620C>A (p.Asn540Lys)
c.983A>T (p.Asn328Ile)
c.970C>G (p.Leu324Val)
c.801G>T (p.Leu267=)
c.597C>T (p.His199=)
c.1949A>C (p.Lys650Thr)
c.1142T>A (p.Val381Glu)
c.1024G>T (p.Gly342Cys)
c.791C>T (p.Thr264Met)
c.344A>T (p.Gln115Leu)
c.835A>T (p.Ser279Cys)
c.251C>T (p.Ser84Leu)
c.833A>G (p.Tyr278Cys)
c.1612A>G (p.Ile538Val)
c.1619A>C (p.Asn540Thr)
c.1619A>G (p.Asn540Ser)
c.1948A>C (p.Lys650Gln)
c.835A>T (p.Ser279Cys)
c.1620C>A (p.Asn540Lys)
Hypohidrotic ectodermal dysplasia EDA c.961G>T (p.Glu321Ter)
c.871G>A (p.Gly291Arg)
c.822delG (p.Trp274Cysfs)
c.730C>T (p.Arg244Ter)
c.663_697del (p.Pro222_Gly233delinsThrfs)
c.572_589del (p.Pro191_Gln197delinsGln)
c.562_589del (p.Pro188_Gln197delinsArgfs)
c.553_588del (p.Asn185_Pro196del)
c.546_581del (p.Asn185_Pro194del)
c.467G>A (p.Arg156His)
c.463C>T (p.Arg155Cys)
c.826C>T (p.Arg276Cys)
c.1045G>A (p.Ala349Thr)
c.671G>C (p.Gly224Ala)
c.626C>T (p.Pro209Leu)
c.466C>T (p.Arg156Cys)
c.463C>T (p.Arg155Cys)
c.347T>A (p.Leu116Ter)
c.329C>A (p.Ser110Ter)
c.2T>C (p.Met1Thr)
c.272_273insG (p.Ser91delinsArgGlnfs)
c.183C>G (p.Tyr61Ter)
c.187G>A (p.Glu63Lys)
c.67C>T (p.Gln23Ter)
c.206G>T (p.Arg69Leu)
c.181T>C (p.Tyr61His)
c.467G>A (p.Arg156His)
c.902A>G (p.Tyr301Cys)
c.895G>A (p.Gly299Ser)
c.822G>T (p.Trp274Cys)
c.607C>T (p.Pro203Ser)
c.526+5G>T
c.467G>T (p.Arg156Leu)
c.457C>T (p.Arg153Cys)
c.164T>A (p.Leu55Gln)
Kabuki KMT2D c.16391C>T (p.Thr5464Met)
c.16360C>T (p.Arg5454Ter)
c.13579A>T (p.Lys4527Ter)
c.15536G>A (p.Arg5179His)
KDM6A c.1909_1912delTCTA (p.Ser637Thrfs)
c.1555C>T (p.Arg519Ter)
c.3717G>A (p.Trp1239Ter)
c.3354_3356delTCT (p.Leu1119del)
Long QT syndrome (LQT1-12) KCNQ1 F339del
c.613G>A (p.Val205Met)
c.1552C>T (p.Arg518Ter)
c.728G>C (p.Arg243Pro)
c.922-1G>C
c.1573G>A (p.Ala525Thr)
c.565G>A (p.Gly189Arg)
c.1032G>A (p.Ala344Ala=)
c.418A>G (p.Ser140Gly)
c.914G>C (p.Trp305Ser)
c.1034G>A (p.Gly345Glu)
c.1747C>T (p.Arg583Cys)
c.898G>A (p.Ala300Thr)
c.350C>T (p.Pro117Leu)
c.532G>C (p.Ala178Pro)
c.1022C>A (p.Ala341Glu)
c.1766G>A (p.Gly589Asp)
c.1760C>T (p.Thr587Met)
c.1663C>T (p.Arg555Cys)
c.916G>A (p.Gly306Arg)
c.806G>A (p.Gly269Asp)
c.1766G>A (p.Gly589Asp)
c.940G>A (p.Gly314Ser)
c.817C>T (p.Leu273Phe)
c.760G>A (p.Val254Met)
c.935C>T (p.Thr312Ile)
c.905C>T (p.Ala302Val)
c.805G>A (p.Gly269Ser)
c.1022C>A (p.Ala341Glu)
c.569G>A (p.Arg190Gln)
c.1022C>T (p.Ala341Val)
KCNH2 c.298C>G (p.Arg100Gly)
c.2842C>T (p.Arg948Cys)
c.1764C>A (p.Asn588Lys)
c.3003G>A (p.Trp1001Ter)
c.2738C>T (p.Ala913Val)
c.2582A>T (p.Asn861Ile)
c.2255G>A (p.Arg752Gln)
c.2738C>T (p.Ala913Val)
c.1468G>A (p.Ala490Thr)
c.2582A>T (p.Asn861Ile)
c.1408A>G (p.Asn470Asp)
c.1672G>C (p.Ala558Pro)
c.193A>C (p.Thr65Pro)
c.1778T>G (p.Ile593Arg)
c.1764C>G (p.Asn588Lys)
c.1831T>C (p.Tyr611His)
c.1882G>A (p.Gly628Ser)
c.2464G>A (p.Val822Met)
c.1744C>T (p.Arg582Cys)
c.2453C>T (p.Ser818Leu)
c.1682C>T (p.Ala561Val)
c.1841C>T (p.Ala614Val)
c.1714G>C (p.Gly572Arg)
SCN5A c.5452G>A (p.Asp1818Asn)
c.2821_2822delTCinsAA (p.Ser941Asn)
c.5382_5384dupTGA (p.Tyr1794_Glu1795insAsp)
c.4508_4516delAGAAGCCCC (p.Gln1506_Pro1508del)
c.5474G>A (p.Arg1825His)
c.2989G>T (p.Ala997Ser)
c.5381A>G (p.Tyr1794Cys)
c.3971A>G (p.Asn1324Ser)
c.4865G>A (p.Arg1622Gln)
c.4928G>A (p.Arg1643His)
c.5347G>A (p.Glu1783Lys)
c.4865G>A (p.Arg1622Gln)
ANK2 c.5434C>T (p.Arg1812Trp)
c.4346A>G (p.Glu1449Gly)
KCNE1 c.221C>T (p.Ser74Leu)
c.253G>A (p.Asp85Asn)
c.226G>A (p.Asp76Asn)
c.2582A>T (p.Asn861Ile)
c.2582A>T (p.Asn861Ile)
KCNE2 c.178T>C (p.Phe60Leu)
c.161T>C (p.Met54Thr)
c.170T>C (p.Ile57Thr)
KCNJ2 Thr75Ala
Asp172Asn
Pro351Ser
CAV3 c.236T>G (p.Leu79Arg)
c.40G>C (p.Val14Leu)
c.253G>A (p.Ala85Thr)
c.423C>G (p.Ser141Arg)
c.233C>T (p.Thr78Met)
c.233C>T (p.Thr78Met)
SCN4B c.535C>T (p.Leu179Phe
AKAP9 c.4709C>T (p.Ser1570Leu
SNTA1 c.1169C>T (p.Ala390Val)
Marfan syndrome FBN1 c.7726C>T (p.Arg2576Cys)
c.7726C>T (p.Arg2576Cys)
c.8268G>A (p.Trp2756Ter)
c.3095G>A (p.Cys1032Tyr)
c.3391A>T (p.Asn1131Tyr)
c.3128A>G (p.Lys1043Arg)
c.4087+1G>A
c.3965-2A>T
c.6920G>C (p.Cys2307Ser)
c.4781G>A (p.Gly1594Asp)
c.3217G>A (p.Glu1073Lys)
c.2954G>A (p.Gly985Glu)
c.3509G>A (p.Arg1170His)
c.3220T>C (p.Cys1074Arg)
c.3410G>C (p.Arg1137Pro)
c.6339T>G (p.Tyr2113Ter)
c.958_959insT (p.Tyr320delinsLeuHisfs)
c.8267G>A (p.Trp2756Ter)
c.7606G>A (p.Gly2536Arg)
c.7180C>T (p.Arg2394Ter)
c.7167_7168delCT (p.Cys2390Serfs)
c.643C>T (p.Arg215Ter)
c.5788+5G>A
c.5863C>T (p.Gln1955Ter)
c.5512G>T (p.Gly1838Cys)
c.5368C>T (p.Arg1790Ter)
c.5066-1G>C
c.4955G>A (p.Cys1652Tyr)
c.493C>T (p.Arg165Ter)
c.4367G>C (p.Cys1456Ser)
c.4270C>G (p.Pro1424Ala)
c.4222T>C (p.Cys1408Arg)
c.368G>A (p.Cys123Tyr)
c.3463+1G>T
c.3274delG (p.Asp1092Thrfs)
c.3164G>A (p.Cys1055Tyr)
c.2855-1G>A
c.247+1G>A
c.2412_2413delAT (p.Cys805Terfs)
c.2407A>T (p.Lys803Ter)
c.2341T>C (p.Cys781Arg)
c.184C>T (p.Arg62Cys)
c.1546C>T (p.Arg516Ter)
c.1468+5G>A
c.1148-2A>G
c.1192A>T (p.Arg398Ter)
c.1051C>T (p.Gln351Ter)
c.8412_8417delTAAAAT (p.Phe2804_Ile2806delinsPhe)
c.83A>G (p.Asn28Ser)
c.8219A>G (p.Asn2740Ser)
c.8203delG (p.Glu2735Lysfs)
c.7898G>C (p.Cys2633Ser)
c.7806G>A (p.Trp2602Ter)
c.7678delC (p.Gln2560Argfs)
c.7666T>G (p.Phe2556Val)
c.7412C>G (p.Pro2471Arg)
c.7072G>A (p.Val2358Ile)
c.6970G>A (p.Ala2324Thr)
c.6793_6800dupTGCAAGAA (p.Cys2265_Asn2267delinsCysLysAsnAlaArgThrfs)
c.6704delG (p.Gly2235Aspfs)
c.6553_6556dupATTG (p.Ile2185_Gly2186delinsIleAspTrpArgfs)
c.6385G>T (p.Asp2129Tyr)
c.6006_6012dupTGGATAC (p.Pro2002_Tyr2004delinsProGlyTyrTrpIleGlnfs)
c.56C>T (p.Ser19Phe)
c.5671G>C (p.Asp1891His)
c.556T>C (p.Cys186Arg)
c.5521_5528delTTCACCTC (p.Phe1841_Ser1843delinsHisfs)
c.484G>A (p.Ala162Thr)
c.4165T>G (p.Cys1389Gly)
c.3560A>G (p.His1187Arg)
c.3478G>T (p.Glu1160Ter)
c.3140_3141delCC (p.Thr1047Asnfs)
c.3026C>G (p.Pro1009Arg)
c.2682delC (p.Pro894Pro=fs)
c.2677G>C (p.Asp893His)
c.266G>C (p.Cys89Ser)
c.2542A>C (p.Thr848Pro)
c.2508T>A (p.Ser836Arg)
c.2479T>C (p.Ser827Pro)
c.2369G>C (p.Cys790Ser)
c.2186delT (p.Leu729Glnfs)
c.2057C>A (p.Ala686Asp)
c.1948C>T (p.Arg650Cys)
c.1710T>A (p.Cys570Ter)
c.1709delG (p.Cys570Leufs)
c.1669_1677dupTGTAATGCG (p.Cys557_Ala559delinsCysAsnAlaCysAsnAla)
c.1634G>A (p.Arg545His)
c.8605_8606delTT (p.Leu2869Alafs)
c.8600A>C (p.Gln2867Pro)
c.8483C>G (p.Ser2828Ter)
c.8378A>G (p.Tyr2793Cys)
c.7955G>A (p.Cys2652Tyr)
c.7892G>A (p.Cys2631Tyr)
c.7852G>A (p.Gly2618Arg)
c.7580A>C (p.Glu2527Ala)
c.7497_7498delAT (p.Val2501Terfs)
c.7453+1G>T
c.7168T>C (p.Cys2390Arg)
c.7094G>A (p.Cys2365Tyr)
c.6920G>A (p.Cys2307Tyr)
c.6841C>T (p.Gln2281Ter)
c.6658C>T (p.Arg2220Ter)
c.6656T>C (p.Phe2219Ser)
c.6630T>G (p.Cys2210Trp)
c.6515_6516delTTinsG (p.Val2172Glyfs)
c.6379+1G>A
c.6289G>T (p.Glu2097Ter)
c.6119G>A (p.Cys2040Tyr)
c.5869C>T (p.Gln1957Ter)
c.5840G>A (p.Cys1947Tyr)
c.5747G>A (p.Cys1916Tyr)
c.5721C>G (p.Asn1907Lys)
c.561delT (p.Phe187Leufs)
c.5588G>A (p.Gly1863Glu)
c.5504G>A (p.Cys1835Tyr)
c.5437C>T (p.Gln1813Ter)
c.529T>C (p.Cys177Arg)
c.5251C>T (p.Gln1751Ter)
c.497G>C (p.Cys166Ser)
c.4942G>A (p.Asp1648Asn)
c.4937G>A (p.Cys1646Tyr)
c.4781G>A (p.Gly1594Asp)
c.4615C>T (p.Arg1539Ter)
c.4567C>T (p.Arg1523Ter)
c.4531T>C (p.Cys1511Arg)
c.4505G>A (p.Cys1502Tyr)
c.4406G>C (p.Arg1469Pro)
c.4364T>G (p.Ile1455Ser)
c.4367G>A (p.Cys1456Tyr)
c.4259G>A (p.Cys1420Tyr)
c.4251_4259delTGGCCAGTG (p.Gly1418_Cys1420del)
c.4160A>G (p.Tyr1387Cys)
c.4048T>A (p.Cys1350Ser)
c.4016G>C (p.Cys1339Ser)
c.4001G>A (p.Gly1334Asp)
c.3886T>C (p.Cys1296Arg)
c.3848A>C (p.Glu1283Ala)
c.3413G>T (p.Cys1138Phe)
c.3392A>G (p.Asn1131Ser)
c.3337+1G>A
c.30_40del (p.Leu11_Thr14delinsArgfs)
c.3058A>G (p.Thr1020Ala)
c.3012C>G (p.Tyr1004Ter)
c.299G>T (p.Cys100Phe)
c.2833delG (p.Ala945Profs)
c.2691_2692insT (p.Lys898delinsTerArgfs)
c.268_269delGGinsC (p.Gly90Argfs)
c.2496T>G (p.Cys832Trp)
c.2495G>A (p.Cys832Tyr)
c.2489G>C (p.Cys830Ser)
c.2488T>G (p.Cys830Gly)
c.2448C>G (p.Cys816Trp)
c.2447G>C (p.Cys816Ser)
c.239G>A (p.Cys80Tyr)
c.2242T>C (p.Cys748Arg)
c.2188G>A (p.Asp730Asn)
c.185G>A (p.Arg62His)
c.1837+1G>T
Marfan’s syndrome
c.1561_1562delAG (p.Ser521Hisfs)
c.1095C>A (p.Cys365Ter)
c.7999G>A (p.Glu2667Lys)
c.7229A>C (p.His2410Pro)
c.5552A>G (p.Asn1851Ser)
c.4684T>A (p.Cys1562Ser)
c.454A>T (p.Ser152Cys)
c.2855-1G>C
c.1211delC (p.Pro404Hisfs)
c.2261A>G (p.Tyr754Cys)
c.4253_4259delGCCAGTG (p.Gly1418Alafs)
c.8226+1G>T
c.8156_8175del20 (p.Lys2719Thrfs)
c.8155_8156delAA (p.Lys2719Aspfs)
c.3662G>A (p.Cys1221Tyr)
c.3386G>A (p.Cys1129Tyr)
c.1585C>T (p.Arg529Ter)
c.3793T>C (p.Cys1265Arg)
c.2168A>C (p.Asp723Ala)
c.6431A>G (p.Asn2144Ser)
c.3725G>A (p.Cys1242Tyr)
c.3350G>A (p.Cys1117Tyr)
c.6662G>C (p.Cys2221Ser)
c.4987T>C (p.Cys1663Arg)
c.3746G>C (p.Cys1249Ser)
c.3037G>C (p.Gly1013Arg)
c.3668G>A (p.Cys1223Tyr)
c.3193delG (p.Glu1065Lysfs)
c.4460-8G>A
c.2433C>A (p.Cys811Ter)
c.510C>G (p.Tyr170Ter)
c.4467T>A (p.Asn1489Lys)
c.6700G>A (p.Val2234Met)
c.2055C>G (p.Cys685Trp)
c.4786C>T (p.Arg1596Ter)
c.6806T>C (p.Ile2269Thr)
See details
c.649T>G (p.Trp217Gly)
See details
c.3379G>A (p.Gly1127Ser)
c.7879G>A (p.Gly2627Arg)
c.364C>T (p.Arg122Cys)
c.4588C>T (p.Arg1530Cys)
c.3442C>G (p.Pro1148Ala)
c.1643A>T (p.Asn548Ile)
c.718C>T (p.Arg240Cys)
c.364C>T (p.Arg122Cys)
c.8176C>T (p.Arg2726Trp)
c.718C>T (p.Arg240Cys)
Metachromatic leukodystrophy ARSA c.413C>T (p.Pro138Leu)
c.263G>A (p.Gly88Asp)
c.931G>A (p.Gly311Ser)
c.*96A>G
F398del
c.506C>G (p.Pro169Arg)
c.467G>A (p.Gly156Asp)
c.370G>A (p.Gly124Ser)
c.1229C>T (p.Thr410Ile)
c.763G>A (p.Glu255Lys)
c.862A>C (p.Thr288Pro)
c.1232C>T (p.Thr411Ile)
c.1115G>A (p.Arg372Gln)
c.1114C>T (p.Arg372Trp)
c.1010A>T (p.Asp337Val)
c.890C>A (p.Ser297Tyr)
c.827C>T (p.Thr276Met)
c.739G>A (p.Gly247Arg)
c.257G>A (p.Arg86Gln)
c.1210+1G>A
c.293C>T (p.Ser98Phe)
c.302G>A (p.Gly101Asp)
c.769G>C (p.Asp257His)
c.739G>A (p.Gly247Arg)
c.542T>G (p.Ile181Ser)
c.465+1G>A
c.302G>A (p.Gly101Asp)
c.293C>T (p.Ser98Phe)
c.257G>A (p.Arg86Gln)
c.1407_1417delCGCAGCTGTGA (p.Asp469_Thr473delinsAspLeufs)
c.1283C>T (p.Pro428Leu)
c.1232C>T (p.Thr411Ile)
c.1210+1G>A
c.1178C>G (p.Thr393Ser)
c.1055A>G (p.Asn352Ser)
c.697C>A (p.Pro233Thr)
c.1279C>A (p.Pro427Thr)
c.410T>C (p.Leu137Pro)
c.1174C>T (p.Arg392Trp)
c.868C>T (p.Arg290Cys)
c.736C>T (p.Arg246Cys)
c.677C>T (p.Ala226Val)
c.292_293delTCinsCT (p.Ser98Leu)
c.899T>C (p.Leu300Ser)
c.883G>A (p.Gly295Ser)
c.737G>A (p.Arg246His)
c.542T>G (p.Ile181Ser)
c.542T>G (p.Ile181Ser)
c.905G>T (p.Cys302Phe)
c.641C>T (p.Ala214Val)
c.1283C>T (p.Pro428Leu)
c.1283C>T (p.Pro428Leu)
c.1283C>T (p.Pro428Leu)
c.1175G>A (p.Arg392Gln)
c.465+1G>A
c.465+1G>A
PSAP c.722G>C (p.Cys241Ser)
c.643A>C (p.Asn215His)
c.650C>T (p.Thr217Ile)
MICROCEPHALY ASPM c.9984+1G>T
c.9841A>T (p.Arg3281Ter)
c.9789T>A (p.Tyr3263Ter)
c.9754delA (p.Arg3252Glufs)
c.9745_9746delCT (p.Leu3249Leu=fs)
c.9730C>T (p.Arg3244Ter)
c.9697C>T (p.Arg3233Ter)
c.9686_9690delTTAAA (p.Ile3229_Lys3230delinsSerfs)
c.9681delA (p.Thr3227Thr=fs)
c.9677_9678insG (p.Cys3226delinsTrpTyrfs)
c.9595A>T (p.Lys3199Ter)
c.9557C>G (p.Ser3186Ter)
c.9539A>C (p.Gln3180Pro)
c.9507delG (p.Lys3169Lys=fs)
c.9492T>G (p.Tyr3164Ter)
c.9319C>T (p.Arg3107Ter)
c.9238A>T (p.Lys3080Ter)
c.9190C>T (p.Arg3064Ter)
c.9118_9119insCATT (p.Tyr3040delinsSerLeuTerfs)
c.8844delC (p.Ala2948Ala=fs)
c.8668C>T (p.Gln2890Ter)
c.8508_8509delGA (p.Gln2836_Lys2837delinsGlnMetfs)
c.8378delT (p.Met2793Argfs)
c.8273T>A (p.Leu2758Ter)
c.8190_8191delAG (p.Thr2730_Glu2731delinsThrLysfs)
c.8130_8131delAA (p.Thr2710_Lys2711delinsThrGlufs)
c.7894C>T (p.Gln2632Ter)
c.7859_7860delAG (p.Gln2620Hisfs)
c.77delG (p.Gly26Alafs)
c.7782_7783delGA (p.Gln2594_Lys2595delinsGlnSerfs)
c.74delG (p.Arg25Arg=fs)
c.7489_7493delTATAT (p.Tyr2497_Ile2498delinsTyrfs)
c.6732delA (p.Ile2244Ile=fs)
c.6651_6654delAACA (p.Lys2217_Thr2218delinsLysfs)
c.6335_6336delAT (p.His2112His=fs)
c.6232C>T (p.Arg2078Ter)
c.577C>T (p.Gln193Ter)
c.5149delA (p.Ile1717Terfs)
c.5136C>A (p.Tyr1712Ter)
c.4855_4856delTA (p.Tyr1619Tyr=fs)
c.4795C>T (p.Arg1599Ter)
c.4581delA (p.Gly1527Gly=fs)
c.440delA (p.Lys147Argfs)
c.4074G>A (p.Trp1358Ter)
c.3811C>T (p.Arg1271Ter)
c.3796G>T (p.Glu1266Ter)
c.3741+1G>A
c.3710C>G (p.Ser1237Ter)
c.3663delG (p.Arg1221Serfs)
c.3527C>G (p.Ser1176Ter)
c.3477_3481delCGCTA (p.Asp1159_Ile1161delinsAspMetfs)
c.3188T>G (p.Leu1063Ter)
c.3082G>A (p.Gly1028Arg)
c.3055C>T (p.Arg1019Ter)
c.2967G>A (p.Trp989Ter)
c.2938C>T (p.Arg980Ter)
c.2936+5G>T
c.2761-25A>G
c.1990C>T (p.Gln664Ter)
c.1959_1962delCAAA (p.Asn653_Lys654delinsLysfs)
c.1727_1728delAG (p.Lys576Lys=fs)
c.1631_1635delATCTT (p.Tyr544_Leu545delinsSerfs)
c.1628_1632delCTTAT (p.Ser543_Tyr544delinsSerfs)
c.1590delA (p.Lys530Lys=fs)
c.1406_1413delATCCTAAA (p.Asn469_Lys471delinsIlefs)
c.1366G>T (p.Glu456Ter)
c.1260_1266delTCAAGTC (p.Ser420_Val422delinsSerfs)
c.1179delT (p.Pro393Pro=fs)
c.1152_1153delAG (p.Ser384_Glu385delinsSerValfs)
c.10059C>A (p.Tyr3353Ter)
c.1002delA (p.Leu334Leu=fs)
c.6189T>G (p.Tyr2063Ter)
c.349C>T (p.Arg117Ter)
c.3978G>A (p.Trp1326Ter)
c.9178C>T (p.Gln3060Ter)
c.9159delA (p.Lys3053Asnfs)
c.7761T>G (p.Tyr2587Ter)
c.1258_1264delTCTCAAG (p.Ser420_Val422delinsSerfs)
c.719_720delCT (p.Ser240Cysfs)
c.2389C>T (p.Arg797Ter)
c.4195dupA (p.Thr1399delinsAsnAsnfs)
mucopolysaccharidosis type I IDUA c.1091C>T (p.Thr364Met)
c.1855C>G (p.Arg619Gly)
c.1469T>C (p.Leu490Pro)
c.1475G>C (p.Arg492Pro)
c.1861C>T (p.Arg621Ter)
c.1037T>G (p.Leu346Arg)
c.1037T>G (p.Leu346Arg)
c.266G>A (p.Arg89Gln)
c.1960T>G (p.Ter654Gly)
Multiple endocrine neoplasia type 1 MEN1 E363del
K119del
c.659_667delTGGCTGAGCinsGCCCCT (p.Val220_Arg223delinsGlyProTrp)
c.480_481insAATT (p.Ser160_Gly161delinsSerAsnTrpCysfs)
c.417C>G (p.His139Gln)
c.252dupT (p.Ser84delinsSerTyrfs)
c.119_124delTGCTGG (p.Val40_Gly42delinsGly)
c.1078delC (p.Arg360Glyfs)
c.1028dupT (p.Leu343delinsLeuAlafs)
c.1077C>A (p.Cys359Ter)
c.415C>G (p.His139Asp)
c.793C>T (p.Gln265Ter)
c.1594C>T (p.Arg532Ter)
c.1322G>A (p.Trp441Ter)
c.1321T>A (p.Trp441Arg)
c.608G>A (p.Trp203Ter)
c.402delC (p.Phe134Leufs)
c.65T>G (p.Leu22Arg)
c.1393C>T (p.Arg465Ter)
c.1A>G (p.Met1Val)
c.1277G>A (p.Cys426Tyr)
c.1189dupG (p.Glu397delinsGlyAlafs)
c.970dupT (p.Tyr324delinsLeuProfs)
c.773C>A (p.Ser258Ter)
c.951C>G (p.Tyr317Ter)
c.211_212delCC (p.Pro71Alafs)
c.518T>C (p.Leu173Pro)
RET c.1860C>G (p.Cys620Trp)
c.1826G>A (p.Cys609Tyr)
c.2080C>T (p.Arg694Trp)
c.2647_2648delGCinsTT (p.Ala883Phe)
c.1900_1908dupTGCCGCACG (p.Cys634_Thr636delinsCysArgThrCysArgThr)
c.1892_1903dupACGAGCTGTGCC (p.Asp631_Arg635delinsAspGluLeuCysHisGluLeuCysArg)
c.1901_1902delGCinsTG (p.Cys634Leu)
c.1891_1893delGAC (p.Asp631del)
c.1826G>C (p.Cys609Ser)
c.1825T>G (p.Cys609Gly)
c.1859G>A (p.Cys620Tyr)
c.1858T>C (p.Cys620Arg)
c.2370G>C (p.Leu790Phe)
c.1833C>G (p.Cys611Trp)
c.2671T>G (p.Ser891Ala)
c.1942G>A (p.Val648Ile)
c.1859G>T (p.Cys620Phe)
c.1902C>G (p.Cys634Trp)
c.1853G>C (p.Cys618Ser)
c.1891G>T (p.Asp631Tyr)
c.874G>A (p.Val292Met)
c.1901G>T (p.Cys634Phe)
c.1901G>C (p.Cys634Ser)
c.1900T>G (p.Cys634Gly)
c.1900T>C (p.Cys634Arg)
c.2753T>C (p.Met918Thr)
c.1896G>C (p.Glu632Asp)
c.2410G>A (p.Val804Met)
c.1852T>G (p.Cys618Gly)
c.1901G>A (p.Cys634Tyr)
CDKN1B c.227G>A (p.Trp76Ter
multiple epiphyseal dysplasia COMP c.1024G>T (p.Asp342Tyr)
c.1358A>G (p.Asn453Ser)
c.1569C>G (p.Asn523Lys)
c.2153G>C (p.Arg718Pro)
c.2042C>G (p.Ser681Cys)
c.1813G>A (p.Asp605Asn)
c.1754C>T (p.Thr585Met)
c.1754C>G (p.Thr585Arg)
c.1665C>A (p.Asn555Lys)
c.1156_1158delAAC (p.Asn386del)
c.1417_1419dupGAC (p.Asp473dup)
c.2152C>T (p.Arg718Trp)
MATN3 c.209G>A (p.Arg70His)
c.359C>T (p.Thr120Met)
c.209G>A (p.Arg70His)
c.656C>A (p.Ala219Asp)
c.581T>A (p.Val194Asp)
c.382G>C (p.Ala128Pro)
c.361C>T (p.Arg121Trp)
Nail-Patella syndrome LMX1B c.745C>T (p.Arg249Ter)
c.668G>A (p.Arg223Gln)
c.691C>T (p.Arg231Ter)
c.244C>T (p.Gln82Ter)
c.353G>T (p.Cys118Phe)
c.661C>T (p.Arg221Ter)
c.807C>A (p.Asn269Lys)
Neurofibromatosis I NF1 c.2531T>G (p.Leu844Arg)
c.5710G>T (p.Glu1904Ter)
c.3728T>C (p.Leu1243Pro)
c.5406_5407insT (p.Ser1802_Ile1803delinsSerTyrHisfs)
c.4021C>T (p.Gln1341Ter)
c.1260+1G>A
c.1466A>G (p.Tyr489Cys)
c.3827G>C (p.Arg1276Pro)
c.4173A>T (p.Arg1391Ser)
c.3104T>G (p.Met1035Arg)
c.1541_1542delAG (p.Gln514Argfs)
c.3113+1G>A
c.4084C>T (p.Arg1362Ter)
c.6511T>A (p.Tyr2171Asn)
c.6427C>A (p.Leu2143Met)
c.5465_5466insT (p.Thr1822delinsThrGlnfs)
c.5448dupC (p.Asp1816delinsAspLeufs)
c.574C>T (p.Arg192Ter)
c.3721C>T (p.Arg1241Ter)
c.5944-5A>G
c.1523T>C (p.Leu508Pro)
c.4267A>G (p.Lys1423Glu)
c.5845A>T (p.Arg1949Ter)
c.5795T>C (p.Leu1932Pro)
c.1070T>C (p.Leu357Pro)
c.5839C>T (p.Arg1947Ter)
c.4095_4096insTG (p.Cys1365_His1366delinsCysCysThrfs)
c.4312_4314delGAA (p.Glu1438del)
c.6200T>C (p.Leu2067Pro)
c.4614G>A (p.Trp1538Ter)
c.8042dupA (p.Tyr2681delinsTerProfs)
c.7126+3A>C
c.5944-5A>G
c.1642-8A>G
c.1070T>C (p.Leu357Pro)
c.4168C>T (p.Leu1390Phe)
c.945_946delGCinsAA (p.Gln315_Leu316delinsGlnMet)
c.2970_2972delAAT (p.Thr990_Met991delinsThr)
c.2970_2972delAAT (p.Thr990_Met991delinsThr)
Neurofibromatosis II NF2 c.1579G>T (p.Glu527Ter)
c.1396C>T (p.Arg466Ter)
c.1387G>T (p.Glu463Ter)
c.1219C>T (p.Gln407Ter)
c.1021C>T (p.Arg341Ter)
c.958C>T (p.Gln320Ter)
c.784C>T (p.Arg262Ter)
c.544G>T (p.Glu182Ter)
c.286_288delTTC (p.Phe96del)
c.1613A>C (p.Gln538Pro)
c.1604T>C (p.Leu535Pro)
c.1079T>C (p.Leu360Pro)
c.185T>C (p.Phe62Ser)
NEUROMUSCULAR DISORDERS-CONGENITAL MUSCULAR DYSTROPHIES ACTA1 c.1007A>C (p.Glu336Ala)
c.7G>T (p.Asp3Tyr)
c.727G>A (p.Glu243Lys)
c.621G>C (p.Glu207Asp)
c.16G>A (p.Glu6Lys)
c.143G>A (p.Gly48Asp)
c.49G>C (p.Gly17Arg)
c.984G>C (p.Lys328Asn)
c.1000C>T (p.Pro334Ser)
c.668T>C (p.Leu223Pro)
c.414C>G (p.Ile138Met)
c.808G>T (p.Gly270Cys)
c.1075A>C (p.Ile359Leu)
c.782A>T (p.Glu261Val)
c.287T>C (p.Leu96Pro)
c.881A>T (p.Asp294Val)
c.493G>T (p.Val165Leu)
c.350A>G (p.Asn117Ser)
c.493G>A (p.Val165Met)
c.222G>T (p.Glu74Asp)
AMPD1 c.959A>T (p.Lys320Ile)
c.242C>T (p.Pro81Leu)
c.133C>T (p.Gln45Ter)
c.1029G>T (p.Met343Ile)
c.314+10G>A
c.2046T>C (p.Asp682=)
c.1323+8G>A
c.1373G>A (p.Arg458His)
c.133C>T (p.Gln45Ter)
c.1261C>T (p.Arg421Trp)
c.134-7_134-4delCTTT
ANO5 c.989dupT (p.Leu330Phefs)
c.692G>T (p.Gly231Val)
c.41-1G>A
c.191dupA (p.Asn64delinsLysSerfs)
c.1295C>G (p.Ala432Gly)
c.1541C>T (p.Thr514Ile)
c.1407+5G>A
c.1066T>G (p.Cys356Gly)
c.2272C>T (p.Arg758Cys)
c.692G>T (p.Gly231Val)
c.2311_2312delCA (p.Gln771Alafs)
c.1066T>C (p.Cys356Arg)
c.2272C>T (p.Arg758Cys)
c.1295C>G (p.Ala432Gly)
c.191dupA (p.Asn64delinsLysSerfs)
CAPN3 c.1080G>C (p.Trp360Cys)
c.855_864dupGTTGATTGCA (p.Arg289Valfs)
c.580delT (p.Ser194Profs)
c.550delA (p.Thr184Argfs)
c.2251_2254dupGTCA (p.Asn752Serfs)
c.223dupT (p.Tyr75Leufs)
c.2362_2363delAGinsTCATCT (p.Arg788delinsSerSerAlafs)
c.2306G>A (p.Arg769Gln)
c.946-1G>A
c.2306G>A (p.Arg769Gln)
c.1469G>A (p.Arg490Gln)
c.956C>T (p.Pro319Leu)
c.257C>T (p.Ser86Phe)
c.328C>T (p.Arg110Ter)
c.1715G>A (p.Arg572Gln)
c.1795_1796insA (p.Thr599delinsAsnGlnfs)
c.550delA (p.Thr184Argfs)
c.2362_2363delAGinsTCATCT (p.Arg788delinsSerSerAlafs)
CAV3 c.290_292del (p.Phe97_Cys98?fs)
c.99C>G (p.Asn33Lys)
c.290_292del (p.Phe97_Cys98?fs)
c.166G>A (p.Gly56Ser)
c.139G>A (p.Glu47Lys)
c.191C>G (p.Thr64Ser)
c.260T>C (p.Leu87Pro)
c.236T>G (p.Leu79Arg)
c.40G>C (p.Val14Leu)
c.253G>A (p.Ala85Thr)
c.423C>G (p.Ser141Arg)
c.137C>T (p.Ala46Val)
c.86C>T (p.Pro29Leu)
c.84C>A (p.Asp28Glu)
c.189_197del (p.Thr64_Thr66del)
c.314C>T (p.Pro105Leu)
c.277G>A (p.Ala93Thr)
c.84C>A (p.Asp28Glu)
c.314C>T (p.Pro105Leu)
c.233C>T (p.Thr78Met)
c.136G>A (p.Ala46Thr)
c.80G>A (p.Arg27Gln)
C72W
c.2738C>T (p.Ala913Val)
COL6A1 c.841G>A (p.Gly281Arg)
c.896G>A (p.Gly299Glu)
c.877G>A (p.Gly293Arg)
c.868G>A (p.Gly290Arg)
c.850G>A (p.Gly284Arg)
c.805-2A>G
c.362A>G (p.Lys121Arg)
c.1056+1G>A
c.1977C>G (p.Tyr659Ter)
c.868G>C (p.Gly290Arg)
c.850G>A (p.Gly284Arg)
c.362A>G (p.Lys121Arg)
c.1022G>A (p.Gly341Asp)
c.1577G>T (p.Gly526Val)
COL6A2 c.1493G>A (p.Arg498His)
c.855+2T>G
c.1522-1G>A
c.1461delA (p.Ser488Leufs)
c.803G>A (p.Gly268Asp)
c.2611G>A (p.Asp871Asn)
c.1096C>T (p.Arg366Ter)
c.847G>A (p.Gly283Arg)
c.2329T>C (p.Cys777Arg)
c.1855_1860delGTCATC (p.Val619_Ile620del)
c.2626C>A (p.Arg876Ser)
c.1870G>A (p.Glu624Lys)
c.2455C>T (p.Gln819Ter)
c.2455C>T (p.Gln819Ter)
c.2795C>T (p.Pro932Leu)
c.811G>A (p.Gly271Ser)
c.1861G>A (p.Asp621Asn)
c.2489G>A (p.Arg830Gln)
c.841G>A (p.Gly281Arg)
COL6A3 IVS15DS, GT-TC, +1
c.6282+1G>A
c.6210+1G>A
c.175C>T (p.Arg59Ter)
c.1393C>T (p.Arg465Ter)
c.5177T>G (p.Leu1726Arg)
c.5036G>A (p.Gly1679Glu)
DES GLU359-ALA360-SER361 DEL
c.1289-2A>G
c.735+1G>A
c.1325C>T (p.Thr442Ile)
c.1096_1098delAAC (p.Asn366del)
c.1166A>C (p.Gln389Pro)
c.1154T>C (p.Leu385Pro)
c.1216C>T (p.Arg406Trp)
c.1353C>G (p.Ile451Met)
c.1178A>T (p.Asn393Ile)
c.38C>T (p.Ser13Phe)
c.1255C>T (p.Pro419Ser)
c.1034T>C (p.Leu345Pro)
c.1078G>C (p.Ala360Pro)
c.1009G>C (p.Ala337Pro)
c.1049G>C (p.Arg350Pro)
c.517_537del21 (p.Arg173_Glu179del)
DMD c.2314G>T (p.Glu772Ter)
c.2302C>T (p.Arg768Ter)
c.5985T>G (p.Tyr1995Ter)
c.8713C>T (p.Arg2905Ter)
c.9568C>T (p.Arg3190Ter)
c.10141C>T (p.Arg3381Ter)
c.9197C>A (p.Ser3066Ter)
c.8734A>G (p.Asn2912Asp)
c.8729A>T (p.Glu2910Val)
c.7402G>T (p.Glu2468Ter)
c.6790C>T (p.Gln2264Ter)
c.6373C>T (p.Gln2125Ter)
c.6292C>T (p.Arg2098Ter)
c.5899C>T (p.Arg1967Ter)
c.4414C>T (p.Gln1472Ter)
c.4213C>T (p.Gln1405Ter)
c.3188G>A (p.Trp1063Ter)
c.3121C>T (p.Gln1041Ter)
c.2317A>G (p.Lys773Glu)
c.2308A>T (p.Lys770Ter)
c.1489C>T (p.Gln497Ter)
c.1952G>A (p.Trp651Ter)
c.748G>T (p.Glu250Ter)
c.178C>T (p.Gln60Ter)
c.161T>G (p.Leu54Arg)
c.433C>T (p.Arg145Ter)
c.253C>T (p.Gln85Ter)
c.6955C>T (p.Gln2319Ter)
c.10108C>T (p.Arg3370Ter)
c.8944C>T (p.Arg2982Ter)
c.5551C>T (p.Gln1851Ter)
c.2791G>T (p.Glu931Ter)
c.3469G>T (p.Glu1157Ter)
c.9928C>T (p.Gln3310Ter)
c.2017C>T (p.Gln673Ter)
c.2302C>T (p.Arg768Ter)
c.3631G>T (p.Glu1211Ter)
c.9G>A (p.Trp3Ter)
c.9862G>T (p.Glu3288Ter)
c.9854_9863delTGAGACTGGA (p.Met3285Asnfs)
c.9851G>A (p.Trp3284Ter)
c.9767dupG (p.Ser3257Glnfs)
c.9682T>C (p.Phe3228Leu)
c.9650-2A>G
c.961-5831C>T
c.9568C>T (p.Arg3190Ter)
c.9564-1G>A
c.9361+1G>C
c.9361+1G>A
c.9346C>T (p.Gln3116Ter)
c.9337C>T (p.Arg3113Ter)
c.9225-647A>G
c.9224+61934A>G
c.9164-1G>T
c.9158_9161delTTTC (p.Leu3053Profs)
c.9125delA (p.His3042Profs)
c.8944C>T (p.Arg2982Ter)
c.8912_8913delTC (p.Leu2971Profs)
c.8713C>T (p.Arg2905Ter)
c.8668G>A (p.Glu2890Lys)
c.8652_8653delCT (p.Tyr2885Profs)
c.8608C>T (p.Arg2870Ter)
c.8464C>T (p.Gln2822Ter)
c.8443C>T (p.Gln2815Ter)
c.8374_8375delAA (p.Lys2792Valfs)
c.8358G>A (p.Trp2786Ter)
c.8086delC (p.Leu2696Trpfs)
c.8069T>G (p.Leu2690Ter)
c.8064_8065delTA (p.His2688Glnfs)
c.7922delA (p.Asn2641Metfs)
c.7894C>T (p.Gln2632Ter)
c.7854delG (p.Ile2620Serfs)
c.7818G>A (p.Trp2606Ter)
c.7771G>T (p.Glu2591Ter)
c.7764dupT (p.Lys2589Terfs)
c.7683G>A (p.Trp2561Ter)
c.7682G>A (p.Trp2561Ter)
c.7657C>T (p.Arg2553Ter)
c.7552delC (p.Gln2518Argfs)
c.7309+1G>A
c.7229G>A (p.Trp2410Ter)
c.7189C>T (p.Gln2397Ter)
c.6986dupA (p.Leu2330Alafs)
c.6964delG (p.Asp2322Thrfs)
c.6943G>T (p.Glu2315Ter)
c.6936delA (p.Lys2312Asnfs)
c.6906G>A (p.Trp2302Ter)
c.6834delT (p.Val2279Terfs)
c.676_678delAAG (p.Lys226del)
c.6763-2A>G
c.649+1G>A
c.6392_6393insCA (p.Gln2131Hisfs)
c.6391_6392delCA (p.Gln2131Asnfs)
c.6373C>T (p.Gln2125Ter)
c.6340A>T (p.Lys2114Ter)
c.6292C>T (p.Arg2098Ter)
c.6283C>T (p.Arg2095Ter)
c.6226G>T (p.Glu2076Ter)
c.6182delC (p.Ala2061Glufs)
c.615T>A (p.Tyr205Ter)
c.7229G>A (p.Trp2410Ter)
c.7189C>T (p.Gln2397Ter)
c.6986dupA (p.Leu2330Alafs)
c.6964delG (p.Asp2322Thrfs)
c.6943G>T (p.Glu2315Ter)
c.6936delA (p.Lys2312Asnfs)
c.6906G>A (p.Trp2302Ter)
c.6834delT (p.Val2279Terfs)
c.676_678delAAG (p.Lys226del)
c.6763-2A>G
c.649+1G>A
c.6392_6393insCA (p.Gln2131Hisfs)
c.6391_6392delCA (p.Gln2131Asnfs)
c.6373C>T (p.Gln2125Ter)
c.6340A>T (p.Lys2114Ter)
c.6292C>T (p.Arg2098Ter)
c.6283C>T (p.Arg2095Ter)
c.6226G>T (p.Glu2076Ter)
c.6182delC (p.Ala2061Glufs)
c.615T>A (p.Tyr205Ter
c.6072T>A (p.Cys2024Ter)
c.6014_6017delCTCA (p.Thr2005Metfs)
c.6000T>A (p.Tyr2000Ter)
c.5938G>T (p.Glu1980Ter)
c.5922+3G>C
c.5899C>T (p.Arg1967Ter)
c.583C>T (p.Arg195Ter)
c.5807T>A (p.Leu1936Ter)
c.5773G>T (p.Glu1925Ter)
c.5671A>T (p.Lys1891Ter)
c.5640T>A (p.Tyr1880Ter)
c.5570_5571dupAA (p.His1858Asnfs)
c.5554C>T (p.Gln1852Ter)
c.5530C>T (p.Arg1844Ter)
c.5353C>T (p.Gln1785Ter)
c.5313dupT (p.Lys1772Terfs)
c.531-2A>C
c.530+1delG
c.5287C>T (p.Arg1763Ter)
c.5134C>T (p.Gln1712Ter)
c.5124_5127delGAAA (p.Lys1708Asnfs)
c.5097_5098delCAinsATGAATGAATTCATT (p.Asp1699Glufs)
c.5052delT (p.Phe1684Leufs)
c.4996_5004delCGAGCAGAAinsT (p.Arg1666Terfs)
c.4996C>T (p.Arg1666Ter)
c.4926_4971dup46 (p.Ser1658Glyfs)
c.4902_4908delAGGAGAG (p.Gly1635Profs)
c.489G>A (p.Trp163Ter)
c.4843A>T (p.Lys1615Ter)
c.4735G>T (p.Glu1579Ter)
c.4634dupT (p.Thr1546Asnfs)
c.4545_4549delGAAGT (p.Lys1516Terfs)
c.4534_4535delCT (p.Leu1512Glufs)
c.4518+5G>A
c.4500delA (p.Gln1501Serfs)
c.4486delG (p.Glu1496Lysfs)
c.4471_4472delAA (p.Lys1491Glufs)
c.4409_4412dupGTCT (p.Gln1472Serfs)
c.4405C>T (p.Gln1469Ter)
c.4375C>T (p.Arg1459Ter)
c.433C>T (p.Arg145Ter)
c.4314_4315delAA (p.Arg1439Serfs)
c.412_413delAA (p.Lys138Aspfs)
c.4117C>T (p.Gln1373Ter)
c.4071G>C (p.Glu1357Asp)
c.3779_3785delCTTTGGAinsGG (p.Thr1260Argfs)
c.3747delG (p.Trp1249Cysfs)
c.3697delC (p.Gln1233Lysfs)
c.3639dupA (p.Val1214Serfs)
c.3580C>T (p.Gln1194Ter)
c.3502G>T (p.Glu1168Ter)
c.3433-1G>A
c.3432+3A>G
c.3432+1G>A
c.3295C>T (p.Gln1099Ter)
c.3276+1G>A
c.3246_3247insTTTCTAAAAA (p.Ile1083Phefs)
c.32-2A>T
c.3151C>T (p.Arg1051Ter)
c.3124A>T (p.Lys1042Ter)
c.3121C>T (p.Gln1041Ter)
c.31+1G>T
c.3087G>A (p.Trp1029Ter)
c.3076G>T (p.Glu1026Ter)
c.3059C>G (p.Ser1020Ter)
c.3022A>T (p.Lys1008Ter)
c.2977C>T (p.Gln993Ter)
c.2954T>A (p.Leu985Ter)
c.2929dupC (p.Gln977Profs)
c.28delT (p.Cys10Valfs)
c.2866C>T (p.Gln956Ter)
c.2816T>A (p.Leu939Ter)
c.2804-1G>A
c.2803+1G>T
c.2803+1G>A
c.2758C>T (p.Gln920Ter)
c.2650C>T (p.Gln884Ter)
c.2622+1G>A
c.2547delT (p.Glu850Lysfs)
c.2523delA (p.Gln841Hisfs)
c.251delT (p.Leu84Cysfs)
c.2482T>G (p.Tyr828Asp)
c.2479delG (p.Glu827Serfs)
c.2436G>A (p.Trp812Ter)
c.2419C>T (p.Gln807Ter)
c.2381-1G>T
c.2380+2T>C
c.2380+1G>C
c.2332C>T (p.Gln778Ter)
c.2294_2297delCCAT (p.Ala765Glufs)
c.2281_2285delGAAAA (p.Glu761Serfs)
c.220delC (p.Leu74Terfs)
c.2137C>T (p.Gln713Ter)
c.2125delC (p.Gln709Lysfs)
c.204dupC (p.Thr69Hisfs)
c.2032_2033delCA (p.Gln678Aspfs)
c.2032C>T (p.Gln678Ter)
c.199G>T (p.Gly67Ter)
c.1990C>T (p.Gln664Ter)
c.1952G>A (p.Trp651Ter)
c.1900_1903dupAAGT (p.Ser635Terfs)
c.1900A>T (p.Lys634Ter)
c.1886C>A (p.Ser629Ter)
c.1734delA (p.Glu579Lysfs)
c.1615C>T (p.Arg539Ter)
c.160_162delCTC (p.Leu54del)
c.1529_1530delTC (p.Leu510Hisfs)
c.1489C>T (p.Gln497Ter)
c.1482+1G>T
c.1465C>T (p.Gln489Ter)
c.137_138dupAT (p.Gly47Metfs)
c.137A>T (p.Asp46Val)
c.1371delG (p.Glu459Serfs)
c.1341_1342dupAG (p.Val448Glufs)
c.1332-9A>G
c.1306dupG (p.Val436Glyfs)
c.1286C>A (p.Ser429Ter)
c.1261C>T (p.Gln421Ter)
c.10774delA (p.Arg3592Glyfs)
c.10625delC (p.Pro3542Leufs)
c.10602dupA (p.Gly3535Argfs)
c.1048G>T (p.Glu350Ter)
c.10454delT (p.Leu3485Argfs)
c.10453_10454delCT (p.Leu3485Glufs)
c.10446_10447delCT (p.Ser3483Profs)
c.10258dupT (p.Ser3420Phefs)
c.10223+1G>A
c.10192C>T (p.Gln3398Ter)
c.10171C>T (p.Arg3391Ter)
c.10167delT (p.Arg3391Glufs)
c.10141C>T (p.Arg3381Ter)
c.1012G>T (p.Glu338Ter)
c.10108C>T (p.Arg3370Ter)
c.10086+1G>A
c.10033C>T (p.Arg3345Ter)
c.1438G>T (p.Gly480Ter)
c.10019G>A (p.Cys3340Tyr)
c.835A>G (p.Thr279Ala)
c.3940C>T (p.Arg1314Ter)
c.10262C>T (p.Ala3421Val)
c.8762A>G (p.His2921Arg)
c.691T>A (p.Tyr231Asn)
c.503C>A (p.Ala168Asp)
c.9G>A (p.Trp3Ter)
c.9612_9613ins341
c.2169-3_2169-1delinsAA
DYSF NT5711, G-A, +5
c.937+1G>A
c.663+1G>C
c.6187C>T (p.Arg2063Cys)
c.610C>T (p.Arg204Ter)
c.6042dupA (p.Glu2015Argfs)
c.6009+1G>A
c.5899_5902delCAGC (p.Gln1967Trpfs)
c.5776C>T (p.Arg1926Ter)
c.5761_5762delAG (p.Ser1921Glnfs)
c.5707C>T (p.Gln1903Ter)
c.5572G>A (p.Asp1858Asn)
c.5560G>T (p.Glu1854Ter)
c.5492+1G>T
c.5404-2A>C
c.4957G>T (p.Glu1653Ter)
c.4819C>T (p.Arg1607Ter)
c.4253G>A (p.Gly1418Asp)
c.4200dupC (p.Ile1401Hisfs)
c.393_394delCC (p.Leu132Valfs)
c.3641delC (p.Pro1214Argfs)
c.353delT (p.Val118Alafs)
c.3444_3445delTGinsAA (p.Tyr1148Ter)
c.3327_3328delGT (p.Phe1110Cysfs)
c.3137G>A (p.Arg1046His)
c.2997G>T (p.Trp999Cys)
c.2870_2874delAGACC (p.Gln957Profs)
c.2869C>T (p.Gln957Ter)
c.2643+1G>A
c.2372C>G (p.Pro791Arg)
c.2311C>T (p.Gln771Ter)
c.1663C>T (p.Arg555Trp)
c.1642delG (p.Glu548Lysfs)
c.1638+2T>A
c.1481-1G>A
c.1398-2A>G
c.1398-1G>A
c.1392dupA (p.Asp465Argfs)
c.1368C>A (p.Cys456Ter)
c.1284+2T>C
c.107_108delAA (p.Lys36Serfs)
c.1053+1G>A
c.1555G>A (p.Gly519Arg)
c.5776C>T (p.Arg1926Ter)
c.2997G>T (p.Trp999Cys)
c.6187C>T (p.Arg2063Cys)
c.3892A>G (p.Ile1298Val)
c.1813C>T (p.Gln605Ter)
c.3137G>A (p.Arg1046His)
c.2372C>G (p.Pro791Arg)
c.895G>A (p.Gly299Arg)
c.5264A>G (p.Glu1755Gly)
c.1873G>T (p.Asp625Tyr)
c.5776C>T (p.Arg1926Ter)
c.6187C>T (p.Arg2063Cys)
c.3892A>G (p.Ile1298Val)
c.200_201delTGinsAT (p.Val67Asp)
c.2372C>G (p.Pro791Arg)
c.2352_2355+1delGGAGG
EMD c.450-2A>G
c.355C>T (p.Gln119Ter)
c.284_298delATGAAGAGAGCTACT (p.Tyr95_Tyr99del)
c.239_240insT (p.Glu80Aspfs)
c.130C>T (p.Gln44Ter)
c.470G>A (p.Arg157Gln)
c.548C>A (p.Pro183His)
c.130C>T (p.Gln44Ter)
c.1A>G (p.Met1Val)
c.547C>A (p.Pro183Thr)
FKRP c.826C>A (p.Leu276Ile)
c.1387A>G (p.Asn463Asp)
c.1A>G (p.Met1Val)
c.1387A>G (p.Asn463Asp)
c.953G>A (p.Cys318Tyr)
c.899T>C (p.Val300Ala)
c.400C>T (p.Arg134Trp)
c.764G>A (p.Trp255Ter)
c.235G>A (p.Val79Met)
c.160C>T (p.Arg54Trp)
c.1213G>T (p.Val405Leu)
c.663C>A (p.Ser221Arg)
c.1486T>A (p.Ter496Arg)
c.1343C>T (p.Pro448Leu)
c.1154C>A (p.Ser385Ter)
c.919T>A (p.Tyr307Asn)
c.919T>A (p.Tyr307Asn)
c.1364C>A (p.Ala455Asp)
c.946C>A (p.Pro316Thr)
c.926A>G (p.Tyr309Cys)
FKTN c.748T>C (p.Cys250Arg)
c.642dupT (p.Asp215Terfs)
c.1167dupA (p.Phe390Ilefs)
c.919C>T (p.Arg307Ter)
c.1112A>G (p.Tyr371Cys)
c.346C>T (p.Gln116Ter)
c.527T>C (p.Phe176Ser)
c.139C>T (p.Arg47Ter)
c.509C>A (p.Ala170Glu)
c.340G>A (p.Ala114Thr)
c.536G>C (p.Arg179Thr)
c.1073A>C (p.Gln358Pro)
c.920G>A (p.Arg307Gln)
c.920G>A (p.Arg307Gln)
LAMA2 c.7147C>T (p.Arg2383Ter)
c.4645C>T (p.Arg1549Ter)
c.1580G>A (p.Cys527Tyr)
c.2584T>C (p.Cys862Arg)
c.9212-1G>A
c.9101_9104dupAACA (p.His3035Glnfs)
c.7732C>T (p.Arg2578Ter)
c.7536delC (p.Asp2513Ilefs)
c.7279_7280delCT (p.Leu2427Valfs)
c.7147C>T (p.Arg2383Ter)
c.6955C>T (p.Arg2319Ter)
c.6038delT (p.Leu2013Terfs)
c.6011delA (p.Asn2004Metfs)
c.5914C>T (p.Gln1972Ter)
c.5706_5712delCTCATCT (p.Asp1902Glufs)
c.5050G>T (p.Glu1684*)
c.4523+1G>A
c.3976C>T (p.Arg1326Ter)
c.3718C>T (p.Gln1240Ter)
c.3630delT (p.Ile1210Metfs)
c.2962C>T (p.Gln988Ter)
c.2750-1G>C
c.2049_2050del (p.Arg683_Val684delinsSerProfs)
c.184G>T (p.Gly62Ter)
c.112+1G>A
c.8548-10T>C
c.7906A>G (p.Thr2636Ala)
c.7845G>A (p.Pro2615=)
c.7830G>C (p.Val2610=)
c.6237G>A (p.Thr2079=)
c.6150T>C (p.Asp2050=)
c.5633C>T (p.Ser1878Phe)
c.5530C>A (p.Arg1844Ser)
c.5502G>A (p.Glu1834=)
c.5466A>G (p.Glu1822=)
c.4956C>G (p.Thr1652=)
c.7881T>G (p.His2627Gln)
c.2049_2050del (p.Arg683_Val684delinsSerProfs)
c.1854_1861dup (p.Glu618_Leu621delinsGluArgValHisValPheSerfs)
c.7732C>T (p.Arg2578Ter)
c.7691T>C (p.Leu2564Pro)
c.9253C>T (p.Arg3085Ter)
c.3718C>T (p.Gln1240Ter)
c.2901C>A (p.Cys967Ter)
c.7750-1713_7899-2153del4987
LARGE c.1102C>T (p.Gln368Ter)
c.992C>T (p.Ser331Phe)
c.1483T>C (p.Trp495Arg)
c.1525G>A (p.Glu509Lys)
LMNA c.745C>T (p.Arg249Trp)
c.1139T>C (p.Leu380Ser)
c.1072G>A (p.Glu358Lys)
c.428C>T (p.Ser143Phe)
c.1381-2A>G
c.1620G>A (p.Met540Ile)
c.745C>G (p.Arg249Gly)
c.1585G>A (p.Ala529Thr)
c.1318G>A (p.Val440Met)
c.688G>A (p.Asp230Asn)
c.1626G>C (p.Lys542Asn)
c.433G>A (p.Glu145Lys)
c.1394G>A (p.Gly465Asp)
c.664C>T (p.His222Tyr)
c.1445G>T (p.Arg482Leu)
c.1579C>T (p.Arg527Cys)
c.674G>A (p.Arg225Gln)
c.664C>T (p.His222Tyr)
c.176T>G (p.Leu59Arg)
c.1195C>T (p.Arg399Cys)
c.1586C>T (p.Ala529Val)
c.1411C>T (p.Arg471Cys)
c.1745G>A (p.Arg582His)
c.1444C>T (p.Arg482Trp)
c.178C>G (p.Arg60Gly
c.1718C>T (p.Ser573Leu)
c.1821G>A (p.Val607Val=)
c.419T>G (p.Leu140Arg)
c.959delT (p.Arg321Glufs*159)
c.1589T>C (p.Leu530Pro)
c.1580G>C (p.Arg527Pro)
c.1357C>T (p.Arg453Trp)
c.961C>T (p.Arg321Ter)
c.958delC (p.Leu320Phefs)
c.799T>C (p.Tyr267His)
c.673C>T (p.Arg225Ter)
c.607G>A (p.Glu203Lys)
c.481G>A (p.Glu161Lys)
c.348_349insG (p.Leu116_Lys117delinsLeuGluSerfs)
c.16C>T (p.Gln6Ter)
c.1445G>A (p.Arg482Gln)
c.1072G>A (p.Glu358Lys)
c.398G>C (p.Arg133Pro)
c.1445G>A (p.Arg482Gln)
c.992G>A (p.Arg331Gln)
c.976T>A (p.Ser326Thr)
c.949G>A (p.Glu317Lys)
c.863C>G (p.Ala288Gly)
c.784G>T (p.Glu262Ter)
c.781_783delAAG (p.Lys261del)
c.763delC (p.Gln255Argfs)
c.749C>T (p.Ala250Val)
c.700C>T (p.Gln234Ter)
c.629T>G (p.Ile210Ser)
c.513+1G>C
c.485T>C (p.Leu162Pro)
c.448A>C (p.Thr150Pro)
c.356G>C (p.Arg119Pro)
c.1621C>T (p.Arg541Cys)
c.154C>G (p.Leu52Val)
c.1526dupC (p.Thr510Tyrfs*42)
c.1442A>G (p.Tyr481Cys)
c.1146C>T (p.Gly382Gly=)
c.1129C>T (p.Arg377Cys)
c.1112_1115dupTGGA (p.Glu372delinsAspGlyAspfs)
c.1111_1125delATGGAGATCCACGCC (p.Met371_Ala375del)
c.1106T>C (p.Leu369Pro)
c.1477C>T (p.Gln493Ter)
c.169G>C (p.Ala57Pro)
c.1822G>A (p.Gly608Ser)
c.1580G>C (p.Arg527Pro)
c.16C>T (p.Gln6Ter)
c.673C>T (p.Arg225Ter)
c.644T>C (p.Leu215Pro)
c.607G>A (p.Glu203Lys)
c.1072G>A (p.Glu358Lys)
c.777T>A (p.Tyr259Ter)
c.892C>T (p.Arg298Cys)
c.1003C>T (p.Arg335Trp)
c.1621C>G (p.Arg541Gly)
c.481G>A (p.Glu161Lys)
c.608A>G (p.Glu203Gly)
c.254T>G (p.Leu85Arg)
c.1580G>A (p.Arg527His)
c.178C>G (p.Arg60Gly)
c.1718C>T (p.Ser573Leu)
c.959delT (p.Arg321Glufs*159)
c.1711C>A (p.Arg571Ser)
c.1130G>A (p.Arg377His)
c.398G>T (p.Arg133Leu)
c.398G>T (p.Arg133Leu)
c.1130G>A (p.Arg377His)
c.585C>G (p.Asn195Lys)
c.1412G>A (p.Arg471His)
c.51C>T (p.Ser17Ser=)
c.1824C>T (p.Gly608Gly=)
c.1824C>T (p.Gly608Gly=)
c.1157+16G>A
MYOT c.107_110delAACA (p.Lys36Serfs)
c.116C>T (p.Ser39Phe)
c.17G>A (p.Arg6His)
c.164C>T (p.Ser55Phe)
c.284G>T (p.Ser95Ile)
c.179C>T (p.Ser60Phe)
c.179C>G (p.Ser60Cys)
c.164C>T (p.Ser55Phe)
c.170C>T (p.Thr57Ile)
NEB c.8031_8041delAAATAAACGAG (p.Lys2677Asnfs)
c.1152+1G>A
c.25279G>T (p.Glu8427Ter)
7432-2025_7536+372del2502
PEX1 c.2528G>A (p.Gly843Asp)
c.2230C>T (p.Gln744Ter)
c.2097dupT (p.Ile700Tyrfs)
c.1952_1960dupCAGTGTGGA (p.Trp653_Met654insThrValTrp)
c.1991T>C (p.Leu664Pro)
c.1991T>C (p.Leu664Pro)
c.2528G>A (p.Gly843Asp)
c.2528G>A (p.Gly843Asp)
PEX12 c.894delC (p.Met300Terfs)
c.888_889delCT (p.Leu297Thrfs)
c.538C>T (p.Arg180Ter)
c.273A>T (p.Arg91Ser)
c.691A>T (p.Lys231Ter)
c.538C>T (p.Arg180Ter)
c.949C>T (p.Leu317Phe)
c.959C>T (p.Ser320Phe)
PEX14 c.553C>T (p.Gln185Ter)
PEX2 c.163G>A (p.Glu55Lys)
c.355C>T (p.Arg119Ter)
c.355C>T (p.Arg119Ter)
PEX26 c.134T>C (p.Leu45Pro)
c.2T>C (p.Met1Thr)
c.265G>A (p.Gly89Arg)
c.292C>T (p.Arg98Trp)
PEX5 c.1255C>T (p.Arg419Ter)
c.1554T>G (p.Asn518Lys)
PEX6 c.689_690dupAG (p.Ser232Hisfs)
c.1338_1339delTG (p.Ala447Cysfs)
c.1601T>C (p.Leu534Pro)
PLEC c.6955C>T (p.Arg2319Ter)
c.6169C>T (p.Gln2057Ter)
c.9085C>T (p.Arg3029Ter)
c.913C>T (p.Gln305Ter)
c.5998C>T (p.Arg2000Trp)
PMM2 c.710C>T (p.Thr237Met)
c.653A>T (p.His218Leu)
c.415G>A (p.Glu139Lys)
c.317A>T (p.Tyr106Phe)
c.131T>C (p.Val44Ala)
c.95T>G (p.Leu32Arg)
c.26G>A (p.Cys9Tyr)
c.710C>G (p.Thr237Arg)
c.669C>G (p.Asp223Glu)
c.349G>C (p.Gly117Arg)
c.484C>T (p.Arg162Trp)
c.385G>A (p.Val129Met)
c.193G>T (p.Asp65Tyr)
c.647A>T (p.Asn216Ile)
c.338C>T (p.Pro113Leu)
c.677C>G (p.Thr226Ser)
c.691G>A (p.Val231Met)
c.395T>C (p.Ile132Thr)
c.563A>G (p.Asp188Gly)
c.357C>A (p.Phe119Leu)
c.722G>C (p.Cys241Ser)
c.422G>A (p.Arg141His)
c.95_96delTAinsGC (p.Leu32Arg)
c.710C>G (p.Thr237Arg)
c.691G>A (p.Val231Met)
c.652C>G (p.His218Asp)
c.623G>C (p.Gly208Ala)
c.422G>A (p.Arg141His)
c.357C>A (p.Phe119Leu)
c.338C>T (p.Pro113Leu)
c.323C>T (p.Ala108Val)
POMGNT1 c.92dupA (p.Asn31Lysfs)
c.681A>G (p.Lys227=)
c.301G>A (p.Val101Ile)
c.236-13T>C
c.1666G>A (p.Asp556Asn)
c.1469G>A (p.Cys490Tyr)
c.1814G>C (p.Arg605Pro)
c.1666G>A (p.Asp556Asn)
c.1425G>A (p.Trp475Ter)
c.1324C>T (p.Arg442Cys)
c.1478C>G (p.Pro493Arg)
c.1649G>A (p.Ser550Asn)
c.187C>T (p.Arg63Ter)
c.931C>T (p.Arg311Ter)
c.982dupG (p.Val328delinsGlyValfs)
c.879+5G>T
c.879+5G>A
c.806G>A (p.Cys269Tyr)
c.667G>A (p.Glu223Lys)
c.652+1G>A
c.630G>T (p.Trp210Cys)
c.594C>G (p.Ser198Arg)
c.593delG (p.Ser198Thrfs)
c.526A>C (p.Thr176Pro)
c.447delT (p.Phe149Leufs)
c.25dupC (p.Leu9delinsProHisfs)
c.1902delT (p.Pro635Leufs)
c.1870-1G>C
c.1869+27G>A
c.1876delG (p.Val626Serfs)
c.1864delC (p.Leu622Trpfs)
c.1785+2T>G
c.1769G>A (p.Trp590Ter)
c.1738C>T (p.Arg580Ter)
c.1719delC (p.His573Glnfs)
c.1540-2A>G
c.1350_1354delCTGGG (p.Trp451_Val452delinsAlafs)
c.1342G>C (p.Gly448Arg)
c.1319T>G (p.Leu440Arg)
c.1274G>C (p.Trp425Ser)
c.932G>A (p.Arg311Gln)
c.931C>T (p.Arg311Ter)
c.643C>T (p.Arg215Ter)
c.351delC (p.Thr118Argfs)
c.1814G>A (p.Arg605His)
c.1539+1G>T
c.932G>A (p.Arg311Gln)
c.794G>A (p.Arg265His)
c.1869+27G>T
c.1285-2A>G
c.1539+1G>A
c.1869+27_1869+30delGTGA
POMT1 Q590H
R541
c.793C>T (p.Arg265Ter)
c.2167dupG (p.Asp723Glyfs)
c.1770G>C (p.Gln590His)
c.1280_1281delAGinsTC (p.Glu427Val)
c.1153C>T (p.Gln385Ter)
c.1241C>T (p.Thr414Met)
c.430A>G (p.Asn144Asp)
c.1770G>C (p.Gln590His)
c.1746G>C (p.Trp582Cys)
c.1540C>T (p.Arg514Ter)
c.598G>C (p.Ala200Pro)
c.2005G>A (p.Ala669Thr)
c.193G>A (p.Gly65Arg)
c.907C>T (p.Gln303Ter)
c.226G>A (p.Gly76Arg)
POMT2 c.1997A>G (p.Tyr666Cys)
c.1417C>T (p.Arg473Ter)
c.1057G>A (p.Gly353Ser)
c.737G>A (p.Gly246Asp)
c.2242T>C (p.Trp748Arg)
c.1941G>A (p.Trp647Ter)
c.2177G>A (p.Gly726Glu)
c.2177G>A (p.Gly726Glu)
c.1445G>T (p.Gly482Val)
c.1057G>A (p.Gly353Ser)
c.2243G>C (p.Trp748Ser)
c.593T>A (p.Ile198Asn)
c.1117G>T (p.Val373Phe)
c.1238G>C (p.Arg413Pro)
c.1912C>T (p.Arg638Ter)
c.551C>T (p.Thr184Met)
c.1997A>G (p.Tyr666Cys)
c.1997A>G (p.Tyr666Cys)
RYR1 c.11941C>T (p.His3981Tyr)
c.7373G>A (p.Arg2458His)
c.97A>G (p.Lys33Glu)
c.10579C>T (p.Pro3527Ser)
c.9978C>A (p.Asn3326Lys)
c.9000+1G>T
c.738T>G (p.Tyr246Ter)
c.6104A>T (p.His2035Leu)
c.5333C>A (p.Ser1778Ter)
c.13480G>T (p.Glu4494Ter)
c.1205T>C (p.Met402Thr)
c.10204T>G (p.Cys3402Gly)
c.14761_14762delTTinsAC (p.Phe4921Thr)
c.14582G>A (p.Arg4861His)
c.13013_13032del (p.Ala4338_Gly4344delinsGlyfs)
c.14545G>A (p.Val4849Ile)
c.1739_1742dupATCA (p.Asn580_His581delinsAsnGlnSerHisfs)
c.325C>T (p.Arg109Trp)
c.13891T>A (p.Tyr4631Asn)
c.14759C>A (p.Thr4920Asn)
c.14126C>T (p.Thr4709Met)
c.13910C>T (p.Thr4637Ile)
c.212C>A (p.Ser71Tyr)
c.1280C>T (p.Ser427Leu)
c.14741G>C (p.Arg4914Thr)
c.14740A>G (p.Arg4914Gly)
c.14677C>T (p.Arg4893Trp)
c.14678G>A (p.Arg4893Gln)
c.14678G>C (p.Arg4893Pro)
c.14581C>T (p.Arg4861Cys)
c.14473C>T (p.Arg4825Cys)
c.13673G>A (p.Arg4558Gln)
c.8816G>A (p.Arg2939Lys)
c.7522C>T (p.Arg2508Cys)
c.7361G>A (p.Arg2454His)
c.7354C>T (p.Arg2452Trp)
c.6487C>T (p.Arg2163Cys)
c.14572A>G (p.Asn4858Asp)
c.6847A>C (p.Asn2283His)
c.1205T>C (p.Met402Thr)
c.14440C>T (p.Leu4814Phe)
c.14378T>C (p.Leu4793Pro)
c.13949T>C (p.Leu4650Pro)
c.13703T>C (p.Leu4568Pro)
c.10817T>C (p.Leu3606Pro)
c.14170A>C (p.Lys4724Gln)
c.10100A>G (p.Lys3367Arg)
c.14814C>G (p.Ile4938Met)
c.7358T>C (p.Ile2453Thr)
c.14659C>T (p.His4887Tyr)
c.13952A>C (p.His4651Pro)
c.14696G>A (p.Gly4899Glu)
c.14690G>T (p.Gly4897Val)
c.14671G>C (p.Gly4891Arg)
c.13912G>A (p.Gly4638Ser)
c.13913G>A (p.Gly4638Asp)
c.644G>A (p.Gly215Glu)
c.14762T>C (p.Phe4921Ser)
c.1534G>A (p.Glu512Lys)
c.13900G>A (p.Glu4634Lys)
c.7635G>C (p.Glu2545Asp)
c.14818G>A (p.Ala4940Thr)
c.14717C>T (p.Ala4906Val)
c.14537C>T (p.Ala4846Val)
c.12986C>A (p.Ala4329Asp)
c.4729G>A (p.Ala1577Thr)
c.10343C>T (p.Ser3448Phe)
c.14365-2A>T
c.7268T>A (p.Met2423Lys)
c.1565A>C (p.Tyr522Ser)
c.13909A>G (p.Thr4637Ala)
c.14647-1449A>G
c.14587_14607del21 (p.Phe4863_Asp4869del)
c.14545G>A (p.Val4849Ile)
c.14591A>G (p.Tyr4864Cys)
c.14779_14784delGTCATC (p.Val4927_Ile4928del)
c.178G>A (p.Asp60Asn)
c.14761_14762delTTinsAC (p.Phe4921Thr)
c.14582G>A (p.Arg4861His)
c.12640_12648delCGCCAGTTC (p.Arg4214_Phe4216del)
c.14387A>G (p.Tyr4796Cys)
c.14693T>C (p.Ile4898Thr)
c.6488G>A (p.Arg2163His)
c.1209C>G (p.Ile403Met)
c.7304G>A (p.Arg2435His)
c.487C>T (p.Arg163Cys)
c.5726_5727delAG (p.Glu1909Glyfs)
c.14524G>A (p.Val4842Met)
RYR2 c.4069G>C (p.Asp1357His)
c.4040T>G (p.Met1347Arg)
c.3251G>A (p.Arg1084Lys)
c.2267G>A (p.Ser756Asn)
c.14314G>A (p.Gly4772Ser)
c.1298T>C (p.Leu433Pro)
c.7157A>T (p.Asn2386Ile)
c.12312C>G (p.Asn4104Lys)
c.7422G>C (p.Arg2474Ser)
c.14579C>G (p.Ala4860Gly)
c.6737C>T (p.Ser2246Leu)
c.12602A>G (p.Gln4201Arg)
c.13957G>T (p.Val4653Phe)
c.6982C>T (p.Pro2328Ser)
c.13489C>T (p.Arg4497Cys)
c.5654G>A (p.Gly1885Glu)
SEPN1 c.1384T>G (p.Sec462Gly)
c.1358G>C (p.Trp453Ser)
c.1A>G (p.Met1Val)
c.1385G>A (p.Sec462Ter)
c.818G>A (p.Gly273Glu)
c.943G>A (p.Gly315Ser)
c.1397G>A (p.Arg466Gln)
c.943G>A (p.Gly315Ser)
c.301+1G>T
c.1315C>T (p.Arg439Ter)
c.943G>A (p.Gly315Ser)
SGCA Y134*
c.410A>G (p.Glu137Gly)
c.229C>T (p.Arg77Cys)
c.101G>A (p.Arg34His)
c.524T>C (p.Val175Ala)
c.574C>T (p.Arg192Ter)
c.850C>T (p.Arg284Cys)
c.293G>A (p.Arg98His)
c.229C>T (p.Arg77Cys)
SGCB c.1A>G (p.Met1Val)
c.272G>T (p.Arg91Leu)
c.299T>A (p.Met100Lys)
c.323T>G (p.Leu108Arg)
c.272G>C (p.Arg91Pro)
c.552T>G (p.Tyr184Ter)
c.452C>G (p.Thr151Arg)
SGCD c.390delA (p.Ala131Profs)
c.451T>G (p.Ser151Ala)
c.451T>G (p.Ser151Ala)
c.391G>C (p.Ala131Pro)
c.784G>A (p.Glu262Lys)
c.89G>A (p.Trp30Ter)
c.493C>T (p.Arg165Ter)
SGCE c.709C>T (p.Arg237Ter)
c.1114C>T (p.Arg372Ter)
c.304C>T (p.Arg102Ter)
c.289C>T (p.Arg97Ter)
c.587T>G (p.Leu196Arg)
SGCG c.787G>A (p.Glu263Lys)
c.848G>A (p.Cys283Tyr)
SIL1 c.1312C>T (p.Gln438Ter)
c.1370T>C (p.Leu457Pro)
c.331C>T (p.Arg111Ter)
TCAP c.157C>T (p.Gln53Ter)
c.260G>A (p.Arg87Gln)
c.157C>T (p.Gln53Ter)
TNNI2 c.499_501delGAG (p.Glu167del)
c.527_529delAGA (p.Lys176_Met177delinsMet)
c.521G>A (p.Arg174Gln)
c.466C>T (p.Arg156Ter)
TNNT1 c.538G>T (p.Glu180Ter)
TPM2 c.397C>T (p.Arg133Trp)
c.271C>G (p.Arg91Gly)
c.606C>G (p.Asn202Lys)
c.145_147delAAG (p.Lys49del)
c.415_417delGAG (p.Glu139del)
c.121G>A (p.Glu41Lys)
c.440A>C (p.Gln147Pro)
c.349G>A (p.Glu117Lys)
TPM3 c.622A>G (p.Arg208Gly)
c.610G>A (p.Glu204Lys)
c.394A>G (p.Lys132Glu)
c.161G>C (p.Arg54Pro)
c.11C>T (p.Ala4Val)
c.391C>T (p.Arg131Cys)
c.392G>A (p.Arg131His)
c.391C>G (p.Arg131Gly)
c.187C>A (p.Leu63Met)
c.855delA (p.Ter286Asnfs)
n.790+2459G>A
c.94C>T (p.Gln32Ter)
c.857A>C (p.Ter286Ser)
c.391C>T (p.Arg131Cys)
c.392G>A (p.Arg131His)
c.26T>G (p.Met9Arg)
c.392G>A (p.Arg131His)
TRIM32 c.1459G>A (p.Asp487Asn)
c.1181G>A (p.Arg394His)
c.388C>T (p.Pro130Ser)
   TTN c.107647delT (p.Ser35883Glnfs)
c.107892_107897delAGATGG (p.Gln35964_Gly35966delinsHis)
c.107890C>T (p.Gln35964Ter)
c.107889delA (p.Lys35963Asnfs)
c.107837A>C (p.His35946Pro)
c.835C>T (p.Arg279Trp)
c.14339G>A (p.Ser4780Asn)
c.13108C>T (p.Gln4370Ter)
c.160G>A (p.Val54Met)
c.2228C>T (p.Ala743Val)
c.107780_107790delAAGTAACATGGinsTGAAAGAAAAA (p.Glu35927_Trp35930delinsValLysGluLys)
c.2219G>T (p.Arg740Leu)
c.2926T>C (p.Trp976Arg)
c.107840T>C (p.Ile35947Thr)
c.12208G>T (p.Glu4070Ter)
c.102949C>T (p.Gln34317Ter)
c.93897delT (p.Phe31299Leufs)
c.90778_90779insT (p.Tyr30260delinsLeuGlnfs)
c.90587delA (p.Lys30196Argfs)
c.86821+2T>A
c.81532G>T (p.Glu27178Ter)
c.6678_6681delAAAG (p.Lys2227Phefs)
c.73845delA (p.Glu24615Aspfs)
c.73827delA (p.Glu24609Aspfs)
c.71602C>T (p.Arg23868Ter)
c.69458_69461dupAGAA (p.Asn23154delinsLysGluHisfs)
c.66618C>A (p.Cys22206Ter)
c.61876C>T (p.Arg20626Ter)
c.59205delG (p.Glu19735Aspfs)
c.57995delA (p.His19332Profs)
c.57847+1G>A
c.57331C>T (p.Arg19111Ter)
c.57215delG (p.Gly19072Glufs)
c.56732_56733insA (p.Asp18911delinsGluTrpfs)
c.56647+1G>A
c.54636T>G (p.Tyr18212Ter)
c.50618G>A (p.Trp16873Ter)
c.47506C>T (p.Gln15836Ter)
c.46782C>A (p.Tyr15594Ter)
c.46773T>A (p.Tyr15591Ter)
c.46069_46070delAT (p.Met15357Valfs)
c.45307C>T (p.Arg15103Ter)
c.44364delC (p.Tyr14789Thrfs)
c.41610delA (p.Val13871Serfs)
c.3034C>T (p.Arg1012Ter)
c.1800+1G>A
c.105524_105531delACCAAGTG (p.His35175_Val35177delinsHisfs)
c.106571delA (p.Lys35524Argfs*22)
c.107840T>A (p.Ile35947Asn)
c.107867T>C (p.Leu35956Pro)
c.107780_107790delAAGTAACATGGinsTGAAAGAAAAA (p.Glu35927_Trp35930delinsValLysGluLys)
GBE1 c.1643G> A (p.Trp548Ter)
c.691 +5 G> C
c.784C> T (p.Arg262Cys)
c.708G> C (p.Gln236His)
c.1883A> G (p.His628Arg)
c.1774G> T (p.Glu592Ter)
c.771T> A (p.Phe257Leu)
c.671T> C (p.Leu224Pro)
c.771T> A (p.Phe257Leu)
c.691 +5 G> C
c.671T> C (p.Leu224Pro)
c.1883A> G (p.His628Arg)
c.1774G> T (p.Glu592Ter)
c.1643G> A (p.Trp548Ter)
c.1634A> G (p.His545Arg)
c.1570C> T (p.Arg524Ter)
c.143 +1 G> A
c.986A> C (p.Tyr329Ser)
c.1571G> A (p.Arg524Gln)
c.1543C> T (p.Arg515Cys)
c.1634A> G (p.His545Arg)
c.143 +1 G> A
c.1570C> T (p.Arg524Ter)
c.1570C> T (p.Arg524Ter)
c.1543C> T (p.Arg515Cys)
c.1543C> T (p.Arg515Cys)
c.986A> C (p.Tyr329Ser)
c.986A> C (p.Tyr329Ser)
c.783-1G> A
c.1571G> A (p.Arg524Gln)
c.1571G> A (p.Arg524Gln)
NM_000158.3: c.993-? _1618 + Del
NM_000158.3: c.993-? _1618 + Del
NOONAN, LEOPARD, COSTELLO and CARDIOFACIOCUTANEOUS SYNDROME PTPN11 c.853T> C (p.Phe285Leu)
c.844A> G (p.Ile282Val)
c.417G> C (p.Glu139Asp)
c.188A> G (p.Tyr63Cys)
c.182A> G (p.Asp61Gly)
c.1510A> G (p.Met504Val)
c.1507G> A (p.Gly503Arg)
c.1391G> C (p.Gly464Ala)
c.178G> T (p.Gly60Cys)
c.1517_1518delAGinsCC (p.Gln506Pro)
c.1382C> G (p.Ala461Gly)
c.179G> T (p.Gly60Val)
c.66A> G (p.Thr22 =)
c.661delA (p.Ile221Terfs)
c.1595A> G (p.Glu532Gly)
c.1530G> C (p.Gln510His)
c.1529A> C (p.Gln510Pro)
c.1528C> G (p.Gln510Glu)
c.1528C> A (p.Gln510Lys)
c.1517A> C (p.Gln506Pro)
c.1510A> G (p.Met504Val)
c.1508G> A (p.Gly503Glu)
c.1508G> T (p.Gly503Val)
c.1507G> A (p.Gly503Arg)
c.1507G> C (p.Gly503Arg)
c.1505C> T (p.Ser502Leu)
c.1504T> A (p.Ser502Thr)
c.1504T> G (p.Ser502Ala)
c.1502G> A (p.Arg501Lys)
c.1493G> T (p.Arg498Leu)
c.1492C> T (p.Arg498Trp)
c.1472C> T (p.Pro491Leu)
c.1472C> A (p.Pro491His)
c.1471C> T (p.Pro491Ser)
c.1471C> A (p.Pro491Thr)
c.1453G> T (p.Asp485Tyr)
c.1402A> C (p.Thr468Pro)
c.1391G> C (p.Gly464Ala)
c.1381G> A (p.Ala461Thr)
c.1381G> T (p.Ala461Ser)
c.1282G> A (p.Val428Met)
c.923A> C (p.Asn308Thr)
c.854T> G (p.Phe285Cys)
c.853T> C (p.Phe285Leu)
c.853T> G (p.Phe285Val)
c.846C> G (p.Ile282Met)
c.844A> G (p.Ile282Val)
c.802G> T (p.Gly268Cys)
c.794G> A (p.Arg265Gln)
c.781C> T (p.Leu261Phe)
c.770_771insACA (p.Gln257delinsGlnGln)
c.767A> G (p.Gln256Arg)
c.455G> A (p.Arg152His)
c.417G> C (p.Glu139Asp)
c.417G> T (p.Glu139Asp)
c.412C> T (p.Arg138Ter)
c.329A> C (p.Glu110Ala)
c.328G> A (p.Glu110Lys)
c.317A> C (p.Asp106Ala)
c.236A> G (p.Gln79Arg)
c.228G> C (p.Glu76Asp)
c.228G> T (p.Glu76Asp)
c.227A> C (p.Glu76Ala)
c.226G> A (p.Glu76Lys)
c.217A> C (p.Thr73Pro)
c.215C> G (p.Ala72Gly)
c.214G> C (p.Ala72Pro)
c.214G> T (p.Ala72Ser)
c.211T> C (p.Phe71Leu)
c.205G> C (p.Glu69Gln)
c.188A> G (p.Tyr63Cys)
c.184T> A (p.Tyr62Asn)
c.184T> G (p.Tyr62Asp)
c.182A> T (p.Asp61Val)
c.182A> G (p.Asp61Gly)
c.181G> A (p.Asp61Asn)
c.181G> C (p.Asp61His)
c.179G> C (p.Gly60Ala)
c.179_182delGTGAinsT (p.Gly60_Asp61delinsVal)
c.178G> A (p.Gly60Ser)
c.174C> G (p.Asn58Lys)
c.174C> A (p.Asn58Lys)
c.172A> G (p.Asn58Asp)
c.172A> C (p.Asn58His)
c.155C> T (p.Thr52Ile)
c.124A> G (p.Thr42Ala)
c.5C> T (p.Thr2Ile)
c.1093-1G> T
c.295A> T (p.Lys99Ter)
c.643-2A> C
c.1315delC (p.Leu439Trpfs)
c.1516C> T (p.Gln506Ter)
c.353_354delCT (p.Ser118Trpfs)
c.409_413delGTACG (p.Val137Argfs)
c.412C> T (p.Arg138Ter)
c.922A> G (p.Asn308Asp)
c.854T> C (p.Phe285Ser)
c.1403C> T (p.Thr468Met)
c.836A> C (p.Tyr279Ser)
c.1528C> G (p.Gln510Glu)
c.1517A> C (p.Gln506Pro)
c.1493G> T (p.Arg498Leu)
c.1492C> T (p.Arg498Trp)
c.1391G> C (p.Gly464Ala)
c.1381G> A (p.Ala461Thr)
c.1381G> T (p.Ala461Ser)
c.1403C> T (p.Thr468Met)
c.923A> G (p.Asn308Ser)
c.922A> G (p.Asn308Asp)
c.854T> C (p.Phe285Ser)
c.785T> G (p.Leu262Arg)
c.458_468delCTGGTGATGACinsAAGAACACAGGGGAGAGCAATGAC (p.Thr153Lysfs)
c.1391G> C (p.Gly464Ala)
c.1381G> A (p.Ala461Thr)
c.1403C> T (p.Thr468Met)
c.923A> C (p.Asn308Thr)
c.855T> G (p.Phe285Leu)
c.854T> G (p.Phe285Cys)
c.853T> C (p.Phe285Leu)
c.5C> T (p.Thr2Ile)
c.417G> T (p.Glu139Asp)
c.328G> A (p.Glu110Lys)
c.317A> C (p.Asp106Ala)
c.236A> G (p.Gln79Arg)
c.228G> T (p.Glu76Asp)
c.228G> C (p.Glu76Asp)
c.214G> T (p.Ala72Ser)
c.205G> C (p.Glu69Gln)
c.188A> G (p.Tyr63Cys)
c.179G> C (p.Gly60Ala)
c.172A> G (p.Asn58Asp)
c.172A> C (p.Asn58His)
c.1507G> A (p.Gly503Arg)
c.1505C> T (p.Ser502Leu)
c.1502G> A (p.Arg501Lys)
c.1510A> G (p.Met504Val)
c.1471C> T (p.Pro491Ser)
c.1471C> A (p.Pro491Thr)
c.1381G> A (p.Ala461Thr)
c.124A> G (p.Thr42Ala)
c.1226G> C (p.Gly409Ala)
c.1529A> C (p.Gln510Pro)
c.858T> A (p.Asp286Glu)
c.846C> G (p.Ile282Met)
c.802G> T (p.Gly268Cys)
c.802G> A (p.Gly268Ser)
c.794G> A (p.Arg265Gln)
c.781C> T (p.Leu261Phe)
c.774G> T (p.Glu258Asp)
c.235C> A (p.Gln79Lys)
c.217_218delACinsCT (p.Thr73Leu)
c.214G> C (p.Ala72Pro)
c.209A> G (p.Lys70Arg)
c.174C> G (p.Asn58Lys)
c.174C> A (p.Asn58Lys)
c.155C> T (p.Thr52Ile)
c.1472C> A (p.Pro491His)
c.1529A> G (p.Gln510Arg)
c.1232C> T (p.Thr411Met)
c.236A> G (p.Gln79Arg)
c.182A> G (p.Asp61Gly)
c.215C> G (p.Ala72Gly)
c.923A> G (p.Asn308Ser)
c.922A> G (p.Asn308Asp)
c.854T> C (p.Phe285Ser)
c.5C> T (p.Thr2Ile)
c.1504T> A (p.Ser502Thr)
c.184T> G (p.Tyr62Asp)
c.214G> T (p.Ala72Ser)
c.179_181delGTG (p.Gly60del)
c.188A> G (p.Tyr63Cys)
c.854T> C (p.Phe285Ser)
c.1403C> T (p.Thr468Met)
c.923A> G (p.Asn308Ser)
c.922A> G (p.Asn308Asp)
c.836A> G (p.Tyr279Cys)
c.836A> G (p.Tyr279Cys)
c.836A> G (p.Tyr279Cys)
g.112459655_112474339del14685insCA
c.836A> G (p.Tyr279Cys)
c.836A> G (p.Tyr279Cys)
c.218C> T (p.Thr73Ile)
c.218C> T (p.Thr73Ile)
c.218C> T (p.Thr73Ile)
SOS1 c.925G> T (p.Asp309Tyr)
c.806T> G (p.Met269Arg)
c.806T> C (p.Met269Thr)
c.797C> A (p.Thr266Lys)
c.508A> G (p.Lys170Glu)
c.2536G> A (p.Glu846Lys)
c.2183A> T (p.Lys728Ile)
c.1656G> T (p.Arg552Ser)
c.1656G> C (p.Arg552Ser)
c.1655G> C (p.Arg552Thr)
c.1655G> A (p.Arg552Lys)
c.1654A> G (p.Arg552Gly)
c.1649T> C (p.Leu550Pro)
c.1642A> C (p.Ser548Arg)
c.1300G> A (p.Gly434Arg)
c.1297G> A (p.Glu433Lys)
c.1294T> C (p.Trp432Arg)
c.512T> G (p.Val171Gly)
c.512T> C (p.Val171Ala)
c.335C> G (p.Pro112Arg)
c.322G> A (p.Glu108Lys)
c.3022T> C (p.Tyr1008His)
c.1412G> C (p.Cys471Ser)
c.1310T> C (p.Ile437Thr)
c.1132A> G (p.Thr378Ala)
c.1294T> C (p.Trp432Arg)
c.1656G> C (p.Arg552Ser)
c.1654A> G (p.Arg552Gly)
c.806T> G (p.Met269Arg)
c.797C> A (p.Thr266Lys)
KRAS c.101C> G (p.Pro34Arg)
c.439A> G (p.Lys147Glu)
c.211T> C (p.Tyr71His)
c.101C> G (p.Pro34Arg)
c.178G> C (p.Gly60Arg)
c.468C> G (p.Phe156Leu)
c.15A> T (p.Lys5Asn)
c.458A> T (p.Asp153Val)
c.182A> G (p.Gln61Arg)
c.178G> A (p.Gly60Ser)
c.455T> G (p.Val152Gly)
c.40G> A (p.Val14Ile)
c.173C> T (p.Thr58Ile)
c.13A> G (p.Lys5Glu)
c.458A> T (p.Asp153Val)
RAF1 c.1837C> G (p.Leu613Val)
c.1472C> T (p.Thr491Ile)
c.1456G> A (p.Asp486Asn)
c.781C> T (p.Pro261Ser)
c.781C> G (p.Pro261Ala)
c.781C> A (p.Pro261Thr)
c.768G> T (p.Arg256Ser)
c.1837C> G (p.Leu613Val)
c.1472C> T (p.Thr491Ile)
c.1457A> G (p.Asp486Gly)
c.770C> T (p.Ser257Leu)
c.1837C> G (p.Leu613Val)
c.1472C> G (p.Thr491Arg)
c.1837C> G (p.Leu613Val)
c.781C> T (p.Pro261Ser)
c.770C> T (p.Ser257Leu)
c.770C> T (p.Ser257Leu)
BRAF W531C
c.770A> G (p.Gln257Arg)
c.1799T> A (p.Val600Glu)
c.1787G> T (p.Gly596Val)
c.1801A> C (p.Lys601Gln)
c.2012G> A (p.Arg671Gln)
c.1722C> G (p.His574Gln)
c.1592G> T (p.Trp531Leu)
c.1502A> C (p.Glu501Ala)
c.1741A> C (p.Asn581His)
c.2126A> G (p.Gln709Arg)
c.1914T> A (p.Asp638Glu)
c.1802A> T (p.Lys601Ile)
c.1799T> G (p.Val600Gly)
c.1796C> T (p.Thr599Ile)
c.1789C> G (p.Leu597Val)
c.1787G> T (p.Gly596Val)
c.1741A> G (p.Asn581Asp)
c.1695T> G (p.Asp565Glu)
c.1595G> A (p.Cys532Tyr)
c.1502A> T (p.Glu501Val)
c.1501G> A (p.Glu501Lys)
c.1497A> T (p.Lys499Asn)
c.1497A> C (p.Lys499Asn)
c.1495A> G (p.Lys499Glu)
c.1454T> C (p.Leu485Ser)
c.1447A> C (p.Lys483Gln)
c.1411G> T (p.Val471Phe)
c.1406G> A (p.Gly469Glu)
c.1405G> C (p.Gly469Arg)
c.1403T> C (p.Phe468Ser)
c.1391G> A (p.Gly464Glu)
c.1391G> C (p.Gly464Ala)
c.1391G> T (p.Gly464Val)
c.784C> A (p.Gln262Lys)
c.770A> G (p.Gln257Arg)
c.769C> A (p.Gln257Lys)
c.736G> C (p.Ala246Pro)
c.735A> T (p.Leu245Phe)
c.735A> C (p.Leu245Phe)
c.730A> C (p.Thr244Pro)
c.722C> T (p.Thr241Met)
c.722C> G (p.Thr241Arg)
c.721A> C (p.Thr241Pro)
c.735A> T (p.Leu245Phe)
c.721A> C (p.Thr241Pro)
c.730A> C (p.Thr244Pro)
c.1743T> A (p.Asn581Lys)
c.1403T> C (p.Phe468Ser)
c.1502A> G (p.Glu501Gly)
c.721A> C (p.Thr241Pro)
c.722C> T (p.Thr241Met)
c.1495A> G (p.Lys499Glu)
c.1455G> C (p.Leu485Phe)
c.770A> G (p.Gln257Arg)
c.736G> C (p.Ala246Pro)
c.1789C> G (p.Leu597Val)
c.722C> G (p.Thr241Arg)
c.722C> T (p.Thr241Met)
c.1501G> A (p.Glu501Lys)
c.1914T> A (p.Asp638Glu)
c.1600G> C (p.Gly534Arg)
c.1741A> G (p.Asn581Asp)
c.1406G> A (p.Gly469Glu)
c.721A> C (p.Thr241Pro)
c.1502A> G (p.Glu501Gly)
MEK1 c.389A> G (p.Tyr130Cys)
c.158T> C (p.Phe53Ser)
c.1514G> A (p.Ser505Asn)
c.187_207dup21 (p.Asp69_Gln70insGluTyrSerAlaMetArgAsp)
c.170T> G (p.Phe57Cys)
MAP2K1 c.383G> T (p.Gly128Val)
c.389A> G (p.Tyr130Cys)
c.388T> C (p.Tyr130His)
c.124C> T (p.Leu42Phe)
c.383G> T (p.Gly128Val)
c.389A> G (p.Tyr130Cys)
c.158T> C (p.Phe53Ser)
c.169A> C (p.Lys57Gln)
MAP2K2 c.400T> C (p.Tyr134His)
c.395G> A (p.Gly132Asp)
c.383C> A (p.Pro128Gln)
c.169T> G (p.Phe57Val)
c.170T> G (p.Phe57Cys)
HRAS c.34G> A (p.Gly12Ser)
c.64C> A (p.Gln22Lys)
c.35G> A (p.Gly12Asp)
c.187G> A (p.Glu63Lys)
c.187_207dup21 (p.Asp69_Gln70insGluTyrSerAlaMetArgAsp)
c.108_110dupAGA (p.Glu37_Asp38insGlu)
c.437C> T (p.Ala146Val)
c.38G> A (p.Gly13Asp)
c.35G> C (p.Gly12Ala)
c.35G> A (p.Gly12Asp)
c.436G> A (p.Ala146Thr)
c.173C> T (p.Thr58Ile)
c.350A> G (p.Lys117Arg)
c.34G> T (p.Gly12Cys)
c.37G> T (p.Gly13Cys)
c.34G> A (p.Gly12Ser)
c.35G> T (p.Gly12Val)
c.34G> A (p.Gly12Ser)
c.35G> T (p.Gly12Val)
c.110_111 +1 dupAGG
NRAS Gly13Asp
Gly60Glu
CBL c.1201T> C (p.Cys401Arg)
c.1199T> G (p.Met400Arg)
c.1100A> C (p.Gln367Pro)
c.1076_1087delACCATATCAAAG (p.Asp359_Val363delinsVal)
c.306T> G (p.Tyr102Ter)
c.1112A> G (p.Tyr371Cys)
c.1186T> C (p.Cys396Arg)
c.1150T> C (p.Cys384Arg)
c.1259G> A (p.Arg420Gln)
c.1168G> T (p.Asp390Tyr)
c.1144A> G (p.Lys382Glu)
c.1100A> C (p.Gln367Pro)
c.1111T> C (p.Tyr371His)
c.1096-1G> C
NM_005188.3: c.1227 2 _1227 +4 delTACinsAAG
SHOC2 c.4A> G (p.Ser2Gly)
Oral-facial-digital syndrome OFD1 c.919delG (p.Val307Leufs)
c.898_899dupGA (p.Glu300delinsGluLysfs)
c.877_878delAT (p.Met293Glyfs)
c.871A> T (p.Lys291Ter)
c.858delG (p.Arg286Serfs)
c.843_844delAA (p.Glu281_Ile282delinsAspLeufs)
c.839_840delAA (p.Lys280Argfs)
c.837_841delAAAAG (p.Thr279_Glu281delinsThrAsnfs)
c.837_838delAA (p.Thr279_Lys280delinsThrArgfs)
c.823C> T (p.Gln275Ter)
c.790dupG (p.Glu264delinsGlyLysfs)
c.712delT (p.Tyr238Metfs)
c.710delA (p.Lys237Serfs)
c.709_710delAA (p.Lys237Valfs)
c.707_719delAAAAGTATGAAAA (p.Lys236_Lys240delinsArgfs)
c.675delC (p.Thr225Thr = fs)
c.65dupA (p.Lys22delinsLysAlafs)
c.653delA (p.Lys218Serfs)
c.628C> T (p.Gln210Ter)
c.616_617delGA (p.Glu206Asnfs)
c.615_620delAGAAAT (p.Arg205_Ile207delinsArg)
c.602delA (p.Asn201Metfs)
c.594_598delAAAGC (p.Ile198_Leu200delinsIleLysfs)
c.454C> T (p.Gln152Ter)
c.43_44delAG (p.Ser15Ser = fs)
c.431dupT (p.Leu144delinsPheLysfs)
c.431T> A (p.Leu144Ter)
c.412G> A (p.Gly138Ser)
c.412 +2 Delt
c.411delA (p.Lys137Lys = fs)
c.400_403delGAAA (p.Glu134_Asn135delinsIlefs)
c.382-3C> G
c.382-2A> G
c.372C> G (p.Tyr124Ter)
c.337C> T (p.Gln113Ter)
c.313dupG (p.Val105delinsGlyIlefs)
c.294_312del19 (p.Ser98_Lys104delinsArgfs)
c.290A> G (p.Glu97Gly)
c.2841_2847delAAAAGAC (p.Ile947_Asp949delinsIlefs)
c.2767delG (p.Glu923Lysfs)
c.274T> C (p.Ser92Pro)
c.260A> G (p.Tyr87Cys)
c.247C> T (p.Gln83Ter)
c.243C> G (p.His81Gln)
c.241C> G (p.His81Asp)
c.235G> A (p.Ala79Thr)
c.2349delC (p.Ser783Ser = fs)
c. (? _2261) _ (2387_?) del (p.Gly (? _754) _Gly (754_?) Valfs)
c.2261-1G> T
c.224A> C (p.Asn75Thr)
c.221C> T (p.Ser74Phe)
c.2176delC (p.Arg726Alafs)
c.2123_2126dupAAGA (p.Glu708_Glu709delinsGluGluArgLysfs)
c.2056delT (p.Ser686Profs)
c.2044dupA (p.Ile682delinsAsnTyrfs)
c.1979_1980delCT (p.Ser660Cysfs)
c.1821delG (p.Arg607Arg = fs)
c.1757delG (p.Ser586Metfs)
c.162_166delTGGAG (p.Ser54_Glu56delinsArgThrfs)
c.1587delA (p.Lys529Lys = fs)
c.1452_1458delAGAACTA (p.Lys484_Leu486delinsAsnfs)
c.1445_1446delTT (p.Phe482Serfs)
c.1420C> T (p.Gln474Ter)
c.1409delA (p.Asn470Thrfs)
c.1360_1363delCTTA (p.Leu454_Lys455delinsAsnfs)
c.1358T> A (p.Leu453Ter)
c.1334_1335delTG (p.Leu445Argfs)
c.1323_1326delAGAA (p.Lys441_Glu442delinsLysfs)
c.1322_1326delAAGAA (p.Lys441_Glu442delinsArgfs)
c.1319delT (p.Leu440Glnfs)
c.1318delC (p.Leu440Terfs)
c.1268_1272delAAAAC (p.Gln423_Asn424delinsProfs)
c.1221 +1 delG
c.121C> T (p.Arg41Ter)
c.1193_1196delAATC (p.Gln398_Ser399delinsLeufs)
c.1185delA (p.Glu395Aspfs)
c.1178dupA (p.Lys393delinsLysGlyfs)
c.111G> C (p.Lys37Asn)
c.111G> A (p.Lys37Lys =)
c.1100G> A (p.Arg367Gln)
c.1099C> T (p.Arg367Ter)
c.1071_1078delGAAGGATGinsTTTTTCCT (p.Leu357_Asp360delinsLeuPheSerTyr)
c.1056-2A> T
c.382-? _412 +? del (p.Ser (? _129) _Ser (129_?) Phefs)
c.710dupA (p.Lys237delinsLysValfs)
c.1887_1888insAT (p.Ala629_Asn630delinsAlaIleIlefs)
c.413-10T> G
c.1303A> C (p.Ser435Arg)
c.312delG (p.Lys104Lys = fs)
c.458_459dupCT (p.Lys154Leufs)
c.1543-2A> C
NM_003611.2: c.518-? _935 + Del
NM_003611.2: c.936-? _1129 + Del
NM_003611.2: c.654 2 _654 +4 delTAA
NM_003611.2: c.312 2 _312 +8 delTAAAGTC
NM_003611.2: c.1220_1221 +1 delAGG
NM_003611.2: c.1130-22_1130-19delAATT
c.-985a> G
NM_003611.2:. (? _-311)? C _1542 + del
NM_003611.2:. (? _-360)? C _828 + del
NM_003611.2:? C.1222-(? * _) _ Del
NC_000023.11: g.13746452_13750531del4080
c.-985a> G
Osteocondrite disseccante ACAN c.7141G> A (p.Asp2381Asn)
c.7249G> A (p.Val2417Met)
c.3758dupC (p.Pro1253delinsProTrpfs)
Osteogenesis imperfecta COL1A1 EX15-16DUP
c.4391T> C (p.Leu1464Pro)
c.4358_4362delAATTC (p.Glu1453_Phe1454delinsGlyfs)
c.572G> C (p.Gly191Ala)
c.661G> T (p.Gly221Cys)
c.3551G> T (p.Gly1184Val)
c.572G> A (p.Gly191Asp)
c.3559G> A (p.Gly1187Ser)
c.3271G> A (p.Gly1091Ser)
c.2552G> A (p.Gly851Asp)
c.2210G> A (p.Gly737Asp)
c.824G> A (p.Gly275Asp)
c.517G> T (p.Gly173Ter)
c.370-2A> G
c.299_300delAG (p.Glu100Valfs)
c.2897A> G (p.Gln966Arg)
c.2685delT (p.Pro895Pro = fs)
c.2594G> A (p.Arg865His)
c.2450delC (p.Pro817Leufs)
c.2418delT (p.Gly806Gly = fs)
c.2398-1G> C
c.2161C> T (p.Gln721Ter)
c.2062C> T (p.Gln688Ter)
c.1812delT (p.Pro604Pro = fs)
c.1657delA (p.Thr553Leufs)
c.1583G> A (p.Arg528His)
c.1544G> C (p.Gly515Ala)
c.1235C> G (p.Pro412Arg)
c.1042G> A (p.Ala348Thr)
c.1021G> T (p.Gly341Cys)
c.751-2A> G
c.4160C> T (p.Ala1387Val)
c.761G> A (p.Gly254Glu)
c.3040C> T (p.Arg1014Cys)
c.934C> T (p.Arg312Cys)
c.3936G> T (p.Trp1312Cys)
c.2515G> A (p.Gly839Ser)
c.3118G> A (p.Gly1040Ser)
c.1598G> A (p.Gly533Asp)
c.2228G> T (p.Gly743Val)
c.1777G> A (p.Gly593Ser)
c.1588G> A (p.Gly530Ser)
c.1301G> T (p.Gly434Val)
c.3452G> T (p.Gly1151Val)
c.2444G> T (p.Gly815Val)
c.2156G> A (p.Gly719Asp)
c.3182G> A (p.Gly1061Asp)
c.3073G> A (p.Gly1025Arg)
c.3064G> A (p.Gly1022Ser)
c.2686G> T (p.Gly896Cys)
c.2605G> T (p.Gly869Cys)
c.2533G> A (p.Gly845Arg)
c.2110G> T (p.Gly704Cys)
c.1705G> C (p.Gly569Arg)
c.1057G> T (p.Gly353Cys)
c.2291G> T (p.Gly764Val)
c.2939G> T (p.Gly980Val)
c.3235G> A (p.Gly1079Ser)
c.787G> A (p.Gly263Arg)
c.1777G> T (p.Gly593Cys)
c.1066G> T (p.Gly356Cys)
c.3496G> T (p.Gly1166Cys)
c.3028G> A (p.Gly1010Ser)
c.2776G> T (p.Gly926Cys)
c.814G> T (p.Gly272Cys)
c.1200 +1 G> A
c.4247delC (p.Thr1416Argfs)
c.3421C> T (p.Arg1141Ter)
c.805G> A (p.Gly269Ser)
c.2932C> T (p.Pro978Ser)
c.3541G> A (p.Gly1181Ser)
c.3244G> T (p.Gly1082Cys)
c.579delT (p.Pro193Pro = fs)
c.3040C> T (p.Arg1014Cys)
c.3583G> T (p.Gly1195Cys)
c.994G> A (p.Gly332Arg)
c.994G> A (p.Gly332Arg)
c.3076C> T (p.Arg1026Ter)
COL1A2 G976D
V255del
c.3601G> T (p.Glu1201Ter)
c.2414G> A (p.Gly805Asp)
c.1640G> A (p.Gly547Asp)
c.848_850delGTG (p.Gly283_Glu284delinsGlu)
c.677G> A (p.Gly226Asp)
c.3355G> C (p.Ala1119Pro)
c.3284delC (p.Pro1095Leufs)
c.2827G> A (p.Gly943Arg)
c.1873G> A (p.Gly625Ser)
c.1295G> A (p.Arg432Gln)
c.1148C> A (p.Pro383His)
c.3106-2delA
c.3295G> A (p.Gly1099Arg)
c.3269G> A (p.Gly1090Asp)
c.1262G> A (p.Gly421Asp)
c.1136G> C (p.Gly379Ala)
c.1099G> T (p.Gly367Trp)
c.2251G> A (p.Gly751Ser)
c.1504G> A (p.Gly502Ser)
c.1981G> A (p.Gly661Ser)
c.1739G> A (p.Gly580Asp)
c.2080G> C (p.Gly694Arg)
c.1414G> T (p.Gly472Cys)
c.775G> T (p.Gly259Cys)
c.1936G> T (p.Gly646Cys)
c.2593G> A (p.Gly865Ser)
c.2720G> A (p.Gly907Asp)
c.3034G> C (p.Gly1012Arg)
c.4001_4004delATAA (p.Asn1334_Lys1335delinsSerfs)
c.2575G> A (p.Gly859Ser)
c.226-1G> C
c.1757G> T (p.Gly586Val)
c.1991G> A (p.Gly664Asp)
c.3017G> C (p.Gly1006Ala)
c.838G> A (p.Gly280Ser)
c.1757G> T (p.Gly586Val)
c.3601G> T (p.Glu1201Ter)
c.2414G> A (p.Gly805Asp)
c.1640G> A (p.Gly547Asp)
c.848_850delGTG (p.Gly283_Glu284delinsGlu)
c.677G> A (p.Gly226Asp)
c.3355G> C (p.Ala1119Pro)
c.3284delC (p.Pro1095Leufs)
c.2827G> A (p.Gly943Arg)
c.1873G> A (p.Gly625Ser)
c.1295G> A (p.Arg432Gln)
c.1148C> A (p.Pro383His)
c.3106-2delA
c.3295G> A (p.Gly1099Arg)
c.3269G> A (p.Gly1090Asp)
c.1262G> A (p.Gly421Asp)
c.1136G> C (p.Gly379Ala)
c.1099G> T (p.Gly367Trp)
c.2251G> A (p.Gly751Ser)
c.1504G> A (p.Gly502Ser)
c.1981G> A (p.Gly661Ser)
c.1739G> A (p.Gly580Asp)
c.2080G> C (p.Gly694Arg)
c.1414G> T (p.Gly472Cys)
c.775G> T (p.Gly259Cys)
c.1936G> T (p.Gly646Cys)
c.2593G> A (p.Gly865Ser)
c.2720G> A (p.Gly907Asp)
c.3034G> C (p.Gly1012Arg)
c.4001_4004delATAA (p.Asn1334_Lys1335delinsSerfs)
c.2575G> A (p.Gly859Ser)
c.226-1G> C
c.1757G> T (p.Gly586Val)
c.1991G> A (p.Gly664Asp)
c.3017G> C (p.Gly1006Ala)
c.838G> A (p.Gly280Ser)
c.1757G> T (p.Gly586Val)
CRTAP c.561T> G (p.Tyr187Ter)
c.118_133del16insTACCC (p.Glu40Tyrfs * 117)
c.3G> A (p.Met1Ile)
c.826C> T (p.Gln276Ter)
LEPRE1 c.1102C> T (p.Arg368Ter)
c.1365_1366delAGinsC (p.Glu455_Gly456delinsAspAlafs)
c.1656C> A (p.Tyr552Ter)
Osteopoikilosis LEMD3 c.1963C> T (p.Arg655Ter)
Phenylketonuria PAH S349R
c.505C>T (p.Arg169Cys)
c.970-1G>A
c.931_932delCT (p.Leu311Glyfs)
c.916delA (p.Ile306Leufs)
c.913-8A>G
c.913-3C>G
c.912+3A>C
c.912+2T>C
c.887A>G (p.Asp296Gly)
c.869A>T (p.His290Leu)
c.841C>G (p.Pro281Ala)
c.837delC (p.Glu280Asnfs)
c.812A>T (p.His271Leu)
c.796A>C (p.Thr266Pro)
c.785T>G (p.Val262Gly)
c.682G>A (p.Glu228Lys)
c.632C>T (p.Pro211Leu)
c.60+5G>A
c.591G>C (p.Leu197Phe)
c.568G>A (p.Val190Met)
c.547_548delGAinsTT (p.Glu183Leu)
c.504C>A (p.Tyr168Ter)
c.442-2A>C
c.441+6T>A
c.350delC (p.Thr117Lysfs)
c.350C>T (p.Thr117Ile)
c.284_285delTCinsCA (p.Ile95Thr)
c.205_210dupCCTTCT (p.Ser70_Arg71insProSer)
c.196G>T (p.Glu66Ter)
c.183C>A (p.Asn61Lys)
c.169G>T (p.Glu57Ter)
c.164T>C (p.Phe55Ser)
c.1240T>C (p.Tyr414His)
c.1196T>C (p.Val399Ala)
c.1180G>T (p.Asp394Tyr)
c.1171A>G (p.Ser391Gly)
c.1163T>C (p.Val388Ala)
c.1066-2A>T
c.1004A>C (p.Lys335Thr)
c.194T>C (p.Ile65Thr)
c.1220C>T (p.Pro407Leu)
c.136G>A (p.Gly46Ser)
c.1076C>G (p.Ser359Ter)
c.3G>A (p.Met1Ile)
c.781C>T (p.Arg261Ter)
c.662A>G (p.Glu221Gly)
c.117C>G (p.Phe39Leu)
c.829T>G (p.Tyr277Asp)
c.776C>T (p.Ala259Val)
c.764T>C (p.Leu255Ser)
c.1068C>G (p.Tyr356Ter)
c.1238G>C (p.Arg413Pro)
c.728G>A (p.Arg243Gln)
c.611A>G (p.Tyr204Cys)
c.727C>T (p.Arg243Ter)
c.473G>A (p.Arg158Gln)
c.977G>A (p.Trp326Ter)
c.932T>C (p.Leu311Pro)
c.731C>T (p.Pro244Leu)
c.896T>G (p.Phe299Cys)
c.143T>C (p.Leu48Ser)
c.818C>T (p.Ser273Phe)
c.331C>T (p.Arg111Ter)
c.1169A>G (p.Glu390Gly)
c.1045T>C (p.Ser349Pro)
c.1223G>A (p.Arg408Gln)
c.754C>T (p.Arg252Trp)
c.838G>A (p.Glu280Lys)
c.1162G>A (p.Val388Met)
c.814G>T (p.Gly272Ter)
c.842C>T (p.Pro281Leu)
c.1A>G (p.Met1Val)
c.782G>A (p.Arg261Gln)
c.1222C>T (p.Arg408Trp)
c.1169A>G (p.Glu390Gly)
Polycystic kidney disease PKD1 G2579del
c.12420G>A (p.Trp4140Ter)
c.5764C>T (p.Gln1922Ter)
c.2534T>C (p.Leu845Ser)
c.971G>T (p.Arg324Leu)
c.11457C>A (p.Tyr3819Ter)
c.12261T>A (p.Cys4087Ter)
c.11512C>T (p.Gln3838Ter)
c.12682C>T (p.Arg4228Ter)
c.12124C>T (p.Gln4042Ter)
PKD2 c.305_306insGAG (p.Glu102_Val103insArg)
c.1532A>T (p.Asp511Val)
c.1390C>T (p.Arg464Ter)
c.1213C>T (p.Gln405Ter)
c.2224C>T (p.Arg742Ter)
c.1139G>A (p.Trp380Ter)
c.709+1G>A
c.1906C>A (p.Gln636Lys)
NC_000004.11:g.88957372-?_89042944+?dup
PKHD1 c.10412T>G (p.Val3471Gly)
c.1486C>T (p.Arg496Ter)
c.10658T>C (p.Ile3553Thr)
c.8011C>T (p.Arg2671Ter)
c.5221G>A (p.Val1741Met)
c.9053C>T (p.Ser3018Phe)
c.4991C>T (p.Ser1664Phe)
c.107C>T (p.Thr36Met)
c.982C>T (p.Arg328Ter)
c.9689delA (p.Asp3230Valfs)
c.930delC (p.Thr311Leufs)
c.8824C>T (p.Arg2942Ter)
c.85G>T (p.Glu29Ter)
c.8408G>A (p.Cys2803Tyr)
c.8407T>C (p.Cys2803Arg)
c.682A>G (p.Ser228Gly)
c.5236+1G>A
c.4415delGinsTATTCCCC (p.Cys1472Leufs)
c.391-1G>C
c.3761_3762delCCinsG (p.Ala1254Glyfs)
c.353delG (p.Ser118Ilefs)
c.2827_2828delGA (p.Asp943Hisfs)
c.2452C>T (p.Gln818Ter)
c.2407+1G>A
c.2341C>T (p.Arg781Ter)
c.1694-1G>A
c.1602+1G>A
c.107C>T (p.Thr36Met)
c.10031T>G (p.Leu3344Ter)
Rendu-Osler-Webwr disease ACVRL1 c.143_147delGGGCCinsAGCCT (p.Gly48_Ala49delinsGluPro)
c.1232G>C (p.Arg411Pro)
c.1196G>C (p.Trp399Ser)
c.632G>A (p.Gly211Asp)
c.1450C>T (p.Arg484Trp)
c.1031G>A (p.Cys344Tyr)
c.760_762delGAC (p.Asp254del)
c.1231C>T (p.Arg411Trp)
c.1120C>T (p.Arg374Trp)
c.1232G>A (p.Arg411Gln)
c.1113_1114insG (p.Gly371_Thr372delinsGlyAspGlnfs)
c.1450C>T (p.Arg484Trp)
c.1193T>A (p.Ile398Asn)
c.150G>T (p.Trp50Cys)
c.1127T>G (p.Met376Arg)
c.1031G>A (p.Cys344Tyr)
c.760_762delGAC (p.Asp254del)
c.695_697delCCT (p.Ser232_Ser233delinsSer)
c.1231C>T (p.Arg411Trp)
c.1120C>T (p.Arg374Trp)
c.1232G>A (p.Arg411Gln)
ENG c.2T>C (p.Met1Thr)
c.360C>A (p.Tyr120Ter)
c.1238G>T (p.Gly413Val)
c.831C>G (p.Tyr277Ter)
SMAD4 c.1486C>T (p.Arg496Cys)
c.1447+1G>A
c.1612_1625del (p.Glu538_Thr542delinsHisfs)
c.1598T>C (p.Leu533Pro)
c.1600C>T (p.Gln534Ter)
c.1598T>G (p.Leu533Arg)
c.1596delC (p.Ala532Ala=fs)
c.1596_1597delCCinsT (p.Ala532_Leu533delinsAlaSerfs)
c.1594delG (p.Ala532Profs)
c.1586_1587dupTA (p.Leu529delinsLeuTyrfs)
c.1157G>A (p.Gly386Asp)
c.1148T>A (p.Ile383Lys)
c.1102_1103delTC (p.Ser368Glnfs)
c.1091T>G (p.Leu364Trp)
c.1088_1090delGTT (p.Cys363_Leu364delinsLeu)
c.1082G>T (p.Arg361Leu)
c.1082G>A (p.Arg361His)
c.1081C>T (p.Arg361Cys)
c.1081C>G (p.Arg361Gly)
c.1055G>A (p.Gly352Glu)
c.988G>A (p.Glu330Lys)
c.302G>A (p.Trp101Ter)
c.1054G>A (p.Gly352Arg)
c.692dupG (p.Gly231delinsGlyGlnfs)
c.1500A>G (p.Ile500Met)
c.424+1G>A
c.1607dupT (p.Leu536delinsLeuArgfs)
c.1597C>G (p.Leu533Val)
c.1588delC (p.His530Thrfs)
c.1587dupA (p.Leu529delinsLeuThrfs)
c.1571G>T (p.Trp524Leu)
c.1564_1565delCC (p.Pro522Leufs)
c.1550_1551insAGAG (p.Ser517delinsArgGluHisfs)
c.1547_1550dupAGAG (p.Gln516_Ser517delinsGlnArgGluHisfs)
c.1544delG (p.Arg515Asnfs)
c.1529G>T (p.Gly510Val)
c.1527G>A (p.Trp509Ter)
c.1525T>A (p.Trp509Arg)
c.1478A>C (p.Asp493Ala)
c.1472G>T (p.Gly491Val)
c.1421delC (p.Ser474Terfs)
c.1411_1435del (p.Gly471_Ala479delinsLeufs)
c.1409_1410insCCCT (p.Pro470delinsProProTrpfs)
c.1361_1364delCACA (p.Ala454_Gln455delinsGlufs)
c.1343_1365del (p.Gln448_Gln455delinsArgfs)
c.1342C>T (p.Gln448Ter)
c.1333C>T (p.Arg445Ter)
c.1268delG (p.Gly423Glufs)
c.1242delA (p.Leu414Leu=fs)
c.1244_1247delACAG (p.Asp415_Arg416?fs)
c.1236C>G (p.Tyr412Ter)
c.1193G>A (p.Trp398Ter)
c.1168G>A (p.Glu390Lys)
c.1139+1G>A
c.1139G>A (p.Arg380Lys)
c.1113delC (p.His371Glnfs)
c.1087T>C (p.Cys363Arg)
c.1058A>C (p.Tyr353Ser)
c.1042_1043delGT (p.Val348Tyrfs)
c.1037delC (p.Pro346Leufs)
c.989A>G (p.Glu330Gly)
c.1081C>A (p.Arg361Ser)
c.982_983insT (p.Tyr328delinsLeuLeufs)
c.971delG (p.Cys324Phefs)
c.970T>C (p.Cys324Arg)
c.925_928dupGCAT (p.Ala309_Phe310delinsAlaCysIleProfs)
c.831_832delAC (p.Thr277_Pro278delinsThrTerfs)
c.829_830delAC (p.Thr277Thr=fs)
c.729_730insCCGC (p.Gly243_Pro244delinsGlyProProSerfs)
c.608delC (p.Pro203Hisfs)
c.538C>T (p.Gln180Ter)
c.533C>G (p.Ser178Ter)
c.516_527del (p.Leu172_Gly176delinsLeu)
c.437T>A (p.Leu146Ter)
c.430_431delTC (p.Ser144Argfs)
c.425-6A>G
c.403C>T (p.Arg135Ter)
c.375_381dupTGTCTGT (p.Ser125_Cys127delinsSerValCysCysLeuCysfs)
c.373_374insAT (p.Ser125delinsAsnValfs)
c.1162C>T (p.Gln388Ter)
c.692dupG (p.Gly231delinsGlyGlnfs)
c.1333C>T (p.Arg445Ter)
c.1498A>G (p.Ile500Val)
c.1499T>C (p.Ile500Thr)
c.1054G>A (p.Gly352Arg)
c.1244_1247delACAG (p.Asp415_Arg416?fs)
c.1157G>A (p.Gly386Asp)
c.1081C>T (p.Arg361Cys)
c.1081C>T (p.Arg361Cys)
NM_005359.5:c.1228-1229delCA
Rett syndrome MECP2 c.509C>T (p.Thr170Met)
c.1318G>A (p.Gly440Ser)
c.952C>T (p.Arg318Cys)
c.916C>T (p.Arg306Ter)
c.844C>T (p.Arg282Ter)
c.842delG (p.Gly281Alafs)
c.799C>T (p.Arg267Ter)
c.766C>T (p.Gln256Ter)
c.647C>G (p.Ser216Ter)
c.504C>G (p.Asp168Glu)
c.433C>T (p.Arg145Cys)
c.490C>G (p.Pro164Ala)
c.1000C>T (p.Pro334Ser)
c.710C>T (p.Pro237Leu)
c.459C>G (p.Tyr153Ter)
c.1216G>T (p.Glu406Ter)
c.455C>T (p.Ala152Val)
c.446A>G (p.Glu149Gly)
c.433C>T (p.Arg145Cys)
c.610A>T (p.Lys204Ter)
c.1363G>A (p.Ala455Thr)
c.1187C>T (p.Pro396Leu)
c.5C>T (p.Ala2Val)
c.1399G>T (p.Glu467Ter)
c.538C>T (p.Arg180Ter)
c.352C>T (p.Arg118Trp)
c.500T>C (p.Phe167Ser)
c.334C>G (p.Leu112Val)
c.509C>T (p.Thr170Met)
c.945C>G (p.Ile315Met)
c.952C>T (p.Arg318Cys)
c.916C>T (p.Arg306Ter)
c.968C>T (p.Thr323Met)
c.934G>A (p.Val312Ile)
c.1477G>A (p.Val493Met)
c.746delG (p.Gly249Valfs)
c.455C>T (p.Ala152Val)
c.433C>T (p.Arg145Cys)
c.799C>T (p.Arg267Ter)
c.844C>T (p.Arg282Ter)
Saethre Chotzen TWIST1 c.563C>T (p.Ser188Leu)
c.556G>A (p.Ala186Thr)
c.211C>T (p.Gln71Ter)
c.82C>T (p.Gln28Ter)
c.466A>G (p.Ile156Val)
c.541G>T (p.Glu181Ter)
c.392T>C (p.Leu131Pro)
c.376G>T (p.Glu126Ter)
c.368C>A (p.Ser123Ter)
c.309C>A (p.Tyr103Ter)
c.356A>C (p.Gln119Pro)
c.308_309insA (p.Tyr103delinsTerArgfs)
Seckel syndrome ATR c.5635G>T (p.Asp1879Tyr)
Sferocitosi ereditaria ANK1 c.1618dupC (p.Leu540Profs)
c.5620C>T (p.Arg1874Ter)
c.5286G>A (p.Trp1762Ter)
c.5128G>T (p.Glu1710Ter)
Smith Lemli Opitz syndrome DHCR7 F284L
W37*
c.1342G>A (p.Glu448Lys)
c.3G>A (p.Met1Ile)
c.906C>G (p.Phe302Leu)
c.725G>A (p.Arg242His)
c.724C>T (p.Arg242Cys)
c.506C>T (p.Ser169Leu)
c.452G>A (p.Trp151Ter)
c.1342G>A (p.Glu448Lys)
c.1228G>A (p.Gly410Ser)
c.1A>G (p.Met1Val)
c.1055G>A (p.Arg352Gln)
c.839A>G (p.Tyr280Cys)
c.744G>T (p.Trp248Cys)
c.730G>A (p.Gly244Arg)
c.356A>T (p.His119Leu)
c.866C>T (p.Thr289Ile)
c.1210C>T (p.Arg404Cys)
c.1054C>T (p.Arg352Trp)
c.453G>A (p.Trp151Ter)
c.976G>T (p.Val326Leu)
c.278C>T (p.Thr93Met)
c.832-1G>C
Sotos syndrome NSD1 c.6605G>A (p.Cys2202Tyr)
c.3958C>T (p.Arg1320Ter)
c.6548G>C (p.Cys2183Ser)
c.1310C>G (p.Ser437Ter)
c.6429C>G (p.His2143Gln)
Stickler s. COL2A1 c.170G>A (p.Cys57Tyr)
c.192C>A (p.Cys64Ter)
c.141G>A (p.Trp47Ter)
c.1999C>T (p.Leu667Phe)
c.1693C>T (p.Arg565Cys)
c.3138delT (p.Pro1046Pro=fs)
c.800G>A (p.Gly267Asp)
c.2794C>T (p.Arg932Ter)
c.625C>T (p.Arg209Ter)
c.1957C>T (p.Arg653Ter)
COL11A1 c.2963G>T (p.Gly988Val)
c.1910G>T (p.Gly637Val)
c.3852+1G>A
COL11A2 c.4135C>T (p.Arg1379Ter)
COL9A1 c.883C>T (p.Arg295Ter)
Tay Sachs HEXA c.749G>A (p.Gly250Asp)
c.532C>T (p.Arg178Cys)
c.672+1G>A
c.533G>A (p.Arg178His)
c.718_719insT (p.Lys240Ilefs)
c.1305C>T (p.Tyr435=)
c.1360G>A (p.Gly454Ser)
c.173G>A (p.Cys58Tyr)
c.1351C>G (p.Leu451Val)
c.1176G>A (p.Trp392Ter)
c.116T>G (p.Leu39Arg)
c.902T>G (p.Met301Arg)
c.611A>G (p.His204Arg)
c.380T>G (p.Leu127Arg)
c.632T>C (p.Phe211Ser)
c.540C>G (p.Tyr180Ter)
c.1453T>C (p.Trp485Arg)
c.1A>G (p.Met1Val)
c.533G>T (p.Arg178Leu)
c.629C>T (p.Ser210Phe)
c.1177C>T (p.Arg393Ter)
c.1260G>C (p.Trp420Cys)
c.509G>A (p.Arg170Gln)
c.78G>A (p.Trp26Ter)
c.409C>T (p.Arg137Ter)
c.910_912delTTC (p.Phe304del)
c.508C>T (p.Arg170Trp)
c.1444G>A (p.Glu482Lys)
c.1421+1G>C
c.1073+1G>A
c.1274_1277dupTATC (p.Ile425_Ser426delinsIleSerIleLeufs)
c.574G>C (p.Val192Leu)
Thrombocytopenia-absent radius RBM8A c.67+32G>C
c.207_208insAGCG (p.Val70Serfs)
c.487C>T (p.Arg163Ter)
c.-21G>A
Treacher Collins s. POLR1C c.835C>T (p.Arg279Trp)
c.979A>T (p.Lys327Ter)
c.836G>A (p.Arg279Gln)
TCOF1 c.2731C>T (p.Arg911Ter)
c.149A>G (p.Tyr50Cys)
c.754C>T (p.Gln252Ter)
Tuberous sclerosis TSC1 c.749T>A (p.Leu250Ter)
c.539T>C (p.Leu180Pro)
c.1671_1693del23 (p.Leu557_Ser565delinsLeuProfs)
c.1904_1905delCA (p.Thr635Argfs)
c.671T>G (p.Met224Arg)
c.1760A>G (p.Lys587Arg)
c.495C>A (p.Cys165Ter)
c.2194C>T (p.His732Tyr)
c.2194C>T (p.His732Tyr)
c.1888_1891delAAAG (p.Lys630_Ala631delinsGlnfs)
TSC2 c.1322G>A (p.Trp441Ter)
c.2713C>G (p.Arg905Gly)
c.1432C>T (p.Gln478Ter)
c.4642delC (p.Leu1548Cysfs)
c.2150T>G (p.Leu717Arg)
c.34A>T (p.Lys12Ter)
c.4508A>C (p.Gln1503Pro)
c.2056_2059dup (p.Tyr686_Ser687delinsTyrLeuLeuProfs)
c.2714G>A (p.Arg905Gln)
c.1513C>T (p.Arg505Ter)
c.5024C>T (p.Pro1675Leu)
c.2713C>T (p.Arg905Trp)
c.5238_5255del (p.His1746_Gln1752delinsGln)
c.1832G>A (p.Arg611Gln)
Von hippel lindau VHL I75del
c.458T>A (p.Leu153Gln)
c.496G>T (p.Val166Phe)
c.491A>G (p.Gln164Arg)
c.334T>A (p.Tyr112Asn)
c.499C>G (p.Arg167Gly)
c.500G>A (p.Arg167Gln)
c.250G>T (p.Val84Leu)
c.334T>C (p.Tyr112His)
c.263G>C (p.Trp88Ser)
c.371C>T (p.Thr124Ile)
c.242C>T (p.Pro81Leu)
c.562C>G (p.Leu188Val)
c.292T>C (p.Tyr98His)
c.499C>T (p.Arg167Trp)
c.320G>C (p.Arg107Pro)
c.524A>G (p.Tyr175Cys)
c.501_502insTTGTCCGT (p.Ser168Leufs)
c.326T>A (p.Ile109Asn)
c.256C>G (p.Pro86Ala)
c.497T>C (p.Val166Ala)
c.485G>T (p.Cys162Phe)
c.464-1G>A
c.463+2T>G
c.408delT (p.Phe136Leufs)
c.467A>G (p.Tyr156Cys)
c.319C>G (p.Arg107Gly)
c.250G>T (p.Val84Leu)
c.208G>A (p.Glu70Lys)
c.194C>G (p.Ser65Trp)
c.388G>C (p.Val130Leu)
c.241C>T (p.Pro81Ser)
c.481C>T (p.Arg161Ter)
c.481C>T (p.Arg161Ter)
Von Willebrand disease VWF c.1583A>G (p.Asn528Ser)
c.3178T>C (p.Cys1060Arg)
c.1071C>A (p.Tyr357Ter)
c.2411G>T (p.Cys804Phe)
c.2384A>G (p.Tyr795Cys)
c.3854C>T (p.Ser1285Phe)
c.7603C>T (p.Arg2535Ter)
c.5557C>T (p.Arg1853Ter)
c.7085G>T (p.Cys2362Phe)
c.1648G>A (p.Gly550Arg)
c.4541T>G (p.Phe1514Cys)
c.3940G>C (p.Val1314Leu)
c.3814T>C (p.Cys1272Arg)
c.2446C>T (p.Arg816Trp)
c.4022G>A (p.Arg1341Gln)
c.4820T>A (p.Val1607Asp)
c.4789C>T (p.Arg1597Trp)
c.5347T>G (p.Ser1783Ala)
c.2279G>A (p.Arg760His)
c.3437A>G (p.Tyr1146Cys)
c.8317T>C (p.Cys2773Arg)
c.5557C>T (p.Arg1853Ter)
c.4975C>T (p.Arg1659Ter)
c.4837T>C (p.Ser1613Pro)
c.3939G>C (p.Trp1313Cys)
c.4883T>C (p.Ile1628Thr)
c.3445T>C (p.Cys1149Arg)
c.3970G>A (p.Gly1324Ser)
c.2561G>A (p.Arg854Gln)
c.3916C>T (p.Arg1306Trp)
c.4975C>T (p.Arg1659Ter)
c.2372C>T (p.Thr791Met)
c.3946G>A (p.Val1316Met)
c.3922C>T (p.Arg1308Cys)
c.2561G>A (p.Arg854Gln)
c.3797C>T (p.Pro1266Leu)
c.3614G>A (p.Arg1205His)
c.3614G>A (p.Arg1205His)
Waardenburg syndrome EDN3 c.277C>G (p.Arg93Gly)
c.335A>G (p.His112Arg)
c.507C>A (p.Cys169Ter)
c.476G>T (p.Cys159Phe)
EDNRB c.548C>G (p.Ala183Gly)
c.828G>T (p.Trp276Cys)
c.601C>T (p.Arg201Ter)
c.757C>T (p.Arg253Ter)
MITF c.1051T>C (p.Ser351Pro)
c.1195T>C (p.Ser399Pro)
c.943C>T (p.Arg315Ter)
c.933C>G (p.Asn311Lys)
PAX3 c.268T>C (p.Tyr90His)
c.251C>T (p.Ser84Phe)
c.141C>G (p.Asn47Lys)
c.139A>C (p.Asn47His)
c.251C>T (p.Ser84Phe)
c.238C>G (p.His80Asp)
c.167G>T (p.Arg56Leu)
c.149C>T (p.Pro50Leu)
c.143G>C (p.Gly48Ala)
SOX10 c.2T>G (p.Met1Arg)
c.521A>C (p.Gln174Pro)
c.470C>T (p.Ala157Val)
c.748C>T (p.Gln250Ter)
c.1129C>T (p.Gln377Ter)
c.1129C>T (p.Gln377Ter)
c.621C>G (p.Tyr207Ter)
c.752C>A (p.Ser251Ter)
c.1077_1078delGA (p.Glu359Aspfs)
c.482_483insGCTCCT (p.Arg161_Met162insLeuLeu)
c.249C>G (p.Tyr83Ter)
c.565G>T (p.Glu189Ter)
c.743_744delAG (p.Glu248Alafs)
c.797delG (p.Gly266Alafs)
c.698-2A>C
c.506delC (p.Pro169Argfs)
c.404G>C (p.Ser135Thr)
c.1400_*10delAAAGGGGGCCCT (p.*467Cysext*82)
c.939C>G (p.Tyr313Ter)
c.113delG (p.Gly38Alafs)
c.915delG (p.His306Thrfs)
X-linked agammaglobulinemia BTK c.1625T>C (p.Leu542Pro)
c.1125T>G (p.Tyr375Ter)
c.998A>G (p.His333Arg)
c.895-2A>G
c.840-1G>A
c.777-2A>G
c.1673_1680delAATTTCCA (p.Lys558_Pro560delinsSerfs)
c.1685G>C (p.Arg562Pro)
c.1955T>C (p.Leu652Pro)
c.1906G>T (p.Glu636Ter)
c.1838G>A (p.Gly613Asp)
c.1820C>A (p.Ala607Asp)
c.1773C>A (p.Tyr591Ter)
c.1766A>G (p.Glu589Gly)
c.1741T>C (p.Trp581Arg)
c.1516T>C (p.Cys506Arg)
c.1506C>A (p.Cys502Ter)
c.1275C>A (p.Tyr425Ter)
c.1223T>C (p.Leu408Pro)
c.1001A>C (p.Tyr334Ser)
c.919A>G (p.Arg307Gly)
c.862C>T (p.Arg288Trp)
c.763C>T (p.Arg255Ter)
c.755G>A (p.Trp252Ter)
c.718G>T (p.Glu240Ter)
c.338T>A (p.Val113Asp)
c.97A>C (p.Thr33Pro)
c.2T>C (p.Met1Thr)
c.43C>T (p.Gln15Ter)
c.1889T>A (p.Met630Lys)
c.1684C>T (p.Arg562Trp)
c.1559G>A (p.Arg520Gln)
c.1558C>T (p.Arg520Ter)
c.1288A>G (p.Lys430Glu)
c.83G>A (p.Arg28His)
c.1082A>G (p.Tyr361Cys)
c.472_475delACAG (p.Thr158_Ala159delinsProfs)
c.1511A>T (p.Asp504Val)
c.1455C>A (p.Tyr485Ter)
c.37C>T (p.Arg13Ter)
c.1574G>A (p.Arg525Gln)

 

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In conclusione!

Se il desiderio della coppia è quello di avere il maggior numero di informazioni sullo stato di salute del feto; non vi sono Test di screening non invasivi che possano sostituire la diagnosi genetica invasiva. Ad oggi la NGPD è la sola tecnica in grado di fornire in tempi strettissimi, ed in maniera assoluta; la massima quantità di informazioni sullo stato di salute del feto. Un risultato negativo, ottenuto con la NGPD, relegherebbe le altre indagine prenatali ad un ruolo meramente complementare. Benché, come detto più volte, lo studio del cariotipo fetale e le moderne tecniche di citogenetica molecolare: (array-CGH) e di biologia molecolare (Next Generation Sequencing); non possono garantire con assoluta certezza che il feto sia sano, la NGPD consente di ridurre il rischio che sia affetto da una patologia genetica. E questo come nessun altra indagine prenatale finora ha potuto fare.

P.S.

Le anomalie genetiche più frequenti verranno studiate ed escluse, le eventuali alterazioni individuate saranno valutate e illustrate in sede di consulenza genetica alla gestante. La residua possibilità di avere un figlio con problemi genetici resta legata a forme patologiche rarissime ed a difetti multifattoriali a volte non determinabili con certezza neanche dopo la nascita.

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