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.
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 :
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:
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.
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) | ||
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