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 |