Elenco patologie geni e mutazioni nella NGPD, la seguente tabella riporta l’elenco di migliaia di mutazioni geniche ritenute, ad oggi, sicuramente responsabili dei disordini sindromici riportati nella prima colonna.
La validità diagnostica, i limiti e l’applicabilità nella clinica prenatale della NGPD, risiede esclusivamente nella corretta “targetizzazione” della procedura diagnostica utilizzata.
Questo vuol dire che:
- L’elenco delle mutazioni responsabili delle malattie genetiche ricercate deve essere individuato con assoluta precisione non includendo o, addirittura escludendo, tutte le varianti geniche per le quali non vi è certezza di correlazione patogenetica, per le quali non vi è univocità di significato.
- La targetizzazione esclude tutte le mutazioni geniche per le quali non vi è eticamente la giustificazione di ricercare (suscettibilità, polimorfismi, ecc).
- La targetizzazione è un processo dinamico che si modifica a seconda dell’evoluzione e delle conoscenze genetiche e riflette, quindi, lo stato “consolidato” dell’Arte;
- La targetizzazione può mutare da nazione a nazione in funzione dell’interesse geografico per alcune mutazioni. Può variare da laboratorio a laboratorio in considerazione della tecnologia utilizzata. Può variare in relazione alle convinzioni giuridiche ed etiche nel luogo in cui si esegue l’esame.
Come ben specificato nei consensi informati vengono individuate esclusivamente le anomalie genetiche derivanti da mutazioni oggi ritenute responsabili delle sindromi riportate nella prima colonna .
Si tratta di migliaia di mutazioni di sicuro significato patologico. Deve essere chiarito e ribadito che eventuali nuove anomalie non ancora conosciute dalla scienza medica o in fase di studio, o per le quali non vi è convalidata certezza di una correlazione clinica specifica, nota, descritta, e categorizzata, non verranno diagnosticate a priori per non ingenerare dubbi e sospetti privi di fondamento clinico.
Elenco targettizzato ed aggiornato al 22/07/2014 ore 10:15
| DISORDINE | Gene | Mutazioni indagate (l’esito e’ riportato nella risposta) |
| Achondrogenesis Ia | TRIP11 | W1224* |
| c.790C>T (p.Arg264Ter) | ||
| Arg1028Term | ||
| Gln1160Term | ||
| Arg1167Term | ||
| c.2102A>G (p.Asn701Ser) | ||
| Achondrogenesis Ib | SLC26A2 | c.2033G>T (p.Gly678Val) |
| c.1273A>G (p.Asn425Asp) | ||
| c.1020_1022delTGT (p.Val341del) | ||
| c.532C>T (p.Arg178Ter) | ||
| c.532C>T (p.Arg178Ter) | ||
| c.835C>T (p.Arg279Trp) | ||
| c.835C>T (p.Arg279Trp) | ||
| c.835C>T (p.Arg279Trp) | ||
| Achondrogenesis II | COL2A1 | c.1637G>T (p.Gly546Val) |
| c.1547G>A (p.Gly516Asp) | ||
| c.2671G>C (p.Gly891Arg) | ||
| c.2905G>A (p.Gly969Ser) | ||
| Acondroplasia | FGFR3 | c.835A>T (p.Ser279Cys) |
| c.1138G>A (p.Gly380Arg) | ||
| c.1949A>T (p.Lys650Met) | ||
| c.1123G>T (p.Gly375Cys) | ||
| c.1138G>A (p.Gly380Arg) | ||
| Aicardi-Goutieres Syndrome | ADAR | c.1730T>C (p.Ile577Thr) |
| c.2112G>T (p.Lys704Asn) | ||
| c.2450A>T (p.Tyr817Phe) | ||
| c.2452G>C (p.Asp818His) | ||
| c.1723G>A (p.Ala575Thr) | ||
| c.1790G>A (p.Arg597His) | ||
| c.577C>G (p.Pro193Ala) | ||
| c.191_195delAGCGA (p.Lys64Argfs) | ||
| TREX1 | c.763G>A (p.Asp255Asn) | |
| c.767T>A (p.Val256Asp) | ||
| c.764_766dup (p.Asp255dup) | ||
| c.655C>T (p.Arg219Ter) | ||
| ADAR | c.2134G>A (p.Gly712Arg) | |
| RNASEH2A | c.556C>T (p.Arg186Trp) | |
| SAMHD1 | c.427C>T (p.Arg143Cys) | |
| c.760A>G (p.Met254Val) | ||
| c.368A>C (p.His123Pro) | ||
| c.1642C>T (p.Gln548Ter) | ||
| c.445C>T (p.Gln149Ter) | ||
| c.490C>T (p.Arg164Ter) | ||
| c.625G>A (p.Gly209Ser) | ||
| RNASEH2B | c.554T>G (p.Val185Gly) | |
| RNASEH2B | c.529G>A (p.Ala177Thr) | |
| RNASEH2C | c.428A>T (p.Lys143Ile) | |
| TREX1 | c.217G>A (p.Asp73Asn) | |
| RNASEH2A | c.635A>T (p.Asn212Ile) | |
| c.704G>A (p.Arg235Gln) | ||
| c.75C>T (p.Arg25=) | ||
| SAMHD1 | c.602T>A (p.Ile201Asn) | |
| c.433C>T (p.Arg145Ter) | ||
| RNASEH2C | c.205C>T (p.Arg69Trp) | |
| TREX1 | c.506G>A (p.Arg169His) | |
| RNASEH2A | c.69G>A (p.Val23=) | |
| c.109G>A (p.Gly37Ser) | ||
| ADAR | c.2134G>A (p.Gly712Arg) | |
| TREX1 | c.217G>A (p.Asp73Asn) | |
| Alpha talassemia | HBA1 | Met1Val |
| Trp15Term | ||
| Met33Lys | ||
| Leu107Pro | ||
| Pro120Ser | ||
| Ala124Pro | ||
| Leu130Pro | ||
| HBA2 | c.69C>T (p.Gly23Gly=) | |
| c.*92A>G | ||
| c.96-2A>G | ||
| c.186G>C (p.Lys62Asn) | ||
| c.70G>T (p.Glu24Ter) | ||
| c.349G>T (p.Glu117Ter) | ||
| c.2T>C (p.Met1Thr) | ||
| c.92+6T>C | ||
| c.92+5G>C | ||
| c.92+1G>A | ||
| c.59A>G (p.Asn20Ser) | ||
| c.52A>T (p.Lys18Ter) | ||
| c.316-2A>G | ||
| c.316-2A>C | ||
| c.315+1G>A | ||
| c.135delC (p.Ser45Ser=fs) | ||
| c.118C>T (p.Gln40Ter) | ||
| c.-50-86C>G | ||
| c.126_129delCTTT (p.Phe42Leufs*19) | ||
| c.27dupG (p.Ser10Valfs*14) | ||
| c.-50-29A>G | ||
| c.316-197C>T | ||
| Beta talassemia | HBB | C112R |
| c.*112A>G | ||
| c.-50-86C>G | ||
| c.-50-92C>T | ||
| c.2T>G (p.Met1Arg) | ||
| c.216dupT (p.Phe72delinsPheTerfs) | ||
| c.328delG (p.Val110Cysfs) | ||
| c.36delT (p.Val12Val=fs) | ||
| c.383A>C (p.Gln128Pro) | ||
| c.79_80insT (p.Glu27delinsValGlyfs) | ||
| c.217_221delAGTGAinsT (p.Ser73_Asp74delinsLeufs) | ||
| c.4G>T (p.Val2Leu) | ||
| c.93_94insCGG (p.Arg31_Leu32delinsArgArgLeu) | ||
| c.271G>T (p.Glu91Ter) | ||
| c.-82C>A | ||
| c.*111A>G | ||
| c.-50-28A>C | ||
| c.92+6T>C | ||
| c.93-1G>A | ||
| c.92+1G>T | ||
| c.92+1G>A | ||
| c.84_85insC (p.Ala28_Leu29delinsAlaProGlyfs) | ||
| c.283_284insTG (p.Asp95delinsValThrfs) | ||
| c.45_46insG (p.Leu15_Trp16delinsLeuValGlyfs) | ||
| c.343_344delCTinsG (p.Leu115Glyfs) | ||
| c.108delC (p.Tyr36Tyr=fs) | ||
| c.17_18delCT (p.Pro6Argfs) | ||
| c.135delC (p.Ser45Ser=fs) | ||
| c.51delC (p.Gly17Gly=fs) | ||
| c.321_322insG (p.Leu107_Gly108delinsLeuGlyGlnfs) | ||
| c.383_385delAGG (p.Gln128_Ala129delinsPro) | ||
| c.108C>A (p.Tyr36Ter) | ||
| c.184A>T (p.Lys62Ter) | ||
| c.130G>T (p.Glu44Ter) | ||
| c.114G>A (p.Trp38Ter) | ||
| c.59A>G (p.Asn20Ser) | ||
| c.59A>G (p.Asn20Ser) | ||
| c.127_129delTTT (p.Phe43del) | ||
| c.315G>C (p.Arg105Ser) | ||
| c.3G>A (p.Met1Ile) | ||
| c.4delG (p.Val2Cysfs) | ||
| c.*113A>G | ||
| c.-81A>G | ||
| c.92+5G>C | ||
| c.193delG (p.Gly65Alafs) | ||
| c.114_120delGACCCAG (p.Trp38_Gln40delinsTerfs) | ||
| c.230delC (p.Ala77Valfs) | ||
| c.216_217insA (p.Phe72_Ser73delinsPheLysTerfs) | ||
| c.47G>A (p.Trp16Ter) | ||
| c.385_388delGCTGinsCCACA (p.Ala129_Ala130delinsProHisLeufs) | ||
| c.27dupG (p.Ser10Valfs*14) | ||
| c.118C>T (p.Gln40Ter) | ||
| c.203_204delTG (p.Val68Alafs) | ||
| c.201delA (p.Lys67Lys=fs) | ||
| c.92+6T>C | ||
| c.92+5G>C | ||
| c.92+1G>A | ||
| c.59A>G (p.Asn20Ser) | ||
| c.52A>T (p.Lys18Ter) | ||
| c.316-2A>G | ||
| c.316-2A>C | ||
| c.315+1G>A | ||
| c.135delC (p.Ser45Ser=fs) | ||
| c.118C>T (p.Gln40Ter) | ||
| c.-50-86C>G | ||
| c.20delA (p.Glu7Glyfs) | ||
| c.126_129delCTTT (p.Phe42Leufs*19) | ||
| c.-137C>T | ||
| c.-50-101C>T | ||
| c.112delT (p.Trp38Glyfs) | ||
| c.364G>T (p.Glu122Ter) | ||
| c.52A>T (p.Lys18Ter) | ||
| c.128T>C (p.Phe43Ser) | ||
| c.-136C>T | ||
| c.19_20delGAinsAT (p.Glu7Met) | ||
| c.27dupG (p.Ser10Valfs*14) | ||
| c.116_117delCC (p.Thr39Thr=fs) | ||
| c.93G>T (p.Arg31Ser) | ||
| c.82G>T (p.Ala28Ser) | ||
| c.82G>T (p.Ala28Ser) | ||
| c.126_129delCTTT (p.Phe42Leufs*19) | ||
| c.-50-86C>G | ||
| c.-50-29A>G | ||
| c.143_144insA (p.Asp48delinsGluSerfs) | ||
| c.315+1G>A | ||
| c.316-146T>G | ||
| c.27dupG (p.Ser10Valfs*14) | ||
| c.-50-29A>G | ||
| c.287dupA (p.Leu97Alafs*6) | ||
| c.-137C>A | ||
| c.-50-29A>G | ||
| c.316-197C>T | ||
| c.316-197C>T | ||
| c.316-197C>T | ||
| c.-80T>A | ||
| c.295G>A (p.Val99Met) | ||
| c.-50-87C>G | ||
| c.75T>A (p.Gly25=) | ||
| c.*110T>C | ||
| c.92G>A (p.Arg31Lys) | ||
| c.-50-87C>G | ||
| c.93-21G>A | ||
| c.251delG (p.Gly84Alafs) | ||
| c.75T>A (p.Gly25=) | ||
| c.316-3C>A | ||
| c.-80T>A | ||
| c.-140C>T | ||
| c.93-21G>A | ||
| c.316-3C>A | ||
| c.93-21G>A | ||
| c.-50A>C | ||
| c.-50-88C>T | ||
| c.79G>A (p.Glu27Lys) | ||
| c.79G>A (p.Glu27Lys) | ||
| c.79G>A (p.Glu27Lys) | ||
| c.93-3T>G | ||
| c.-50-88C>T | ||
| c.92+2T>C | ||
| c.92+5G>A | ||
| c.2T>C (p.Met1Thr) | ||
| c.2T>C (p.Met1Thr) | ||
| c.-50-88C>T | ||
| c.75T>A (p.Gly25=) | ||
| c.-50-28A>G | ||
| c.2T>C (p.Met1Thr) | ||
| c.92+5G>T | ||
| c.92+5G>T | ||
| c.25_26delAA (p.Lys9Valfs) | ||
| c.-50-28A>G | ||
| c.316-14T>G | ||
| c.-50-28A>G | ||
| c.25_26delAA (p.Lys9Valfs) | ||
| c.92+5G>A | ||
| c.25_26delAA (p.Lys9Valfs) | ||
| c.316-106C>G | ||
| c.316-106C>G | ||
| c.20A>T (p.Glu7Val) | ||
| c.316-106C>G | ||
| Ambiguous genitalia | SOX9 | c.472G>A (p.Ala158Thr) |
| c.227C>A (p.Ala76Glu) | ||
| c.493C>T (p.His165Tyr) | ||
| c.517A>G (p.Lys173Glu) | ||
| c.1320C>G (p.Tyr440Ter) | ||
| c.1320C>A (p.Tyr440Ter) | ||
| c.462C>G (p.Phe154Leu) | ||
| c.1320C>G (p.Tyr440Ter) | ||
| WT1 | c.1282C>T (p.His428Tyr) | |
| c.1250G>A (p.Arg417His) | ||
| c.1339G>A (p.Asp447Asn) | ||
| c.1339G>A (p.Asp447Asn) | ||
| c.1333C>T (p.Arg445Trp) | ||
| c.1333C>T (p.Arg445Trp) | ||
| c.1333C>T (p.Arg445Trp) | ||
| DAX1 | c.315G>C (p.Trp105Cys) | |
| c.109C>T (p.Gln37Ter) | ||
| c.890T>C (p.Leu297Pro) | ||
| c.1197C>A (p.Tyr399Ter) | ||
| c.1138T>G (p.Tyr380Asp) | ||
| c.1316T>G (p.Ile439Ser) | ||
| c.1183C>T (p.Gln395Ter) | ||
| c.1142T>A (p.Leu381His) | ||
| c.800G>C (p.Arg267Pro) | ||
| c.1319A>T (p.Asn440Ile) | ||
| WNT4 | c.647A>G (p.Glu216Gly) | |
| c.35T>C (p.Leu12Pro) | ||
| c.247C>T (p.Arg83Trp) | ||
| c.341C>T (p.Ala114Val) | ||
| Androgen insensitivity s. | AR | R773C |
| c.2231G>A (p.Gly744Glu) | ||
| c.2231G>T (p.Gly744Val) | ||
| c.1748T>A (p.Phe583Tyr) | ||
| c.2033T>C (p.Leu678Pro) | ||
| c.2343G>T (p.Met781Ile) | ||
| c.2521C>T (p.Arg841Cys) | ||
| c.2596T>C (p.Ser866Pro) | ||
| c.1732G>A (p.Gly578Arg) | ||
| c.2137C>T (p.Leu713Phe) | ||
| c.2667C>T (p.Ser889=) | ||
| c.2571C>G (p.Phe857Leu) | ||
| c.1937C>A (p.Ala646Asp) | ||
| R846H | ||
| c.4G>A (p.Glu2Lys) | ||
| c.2599G>T (p.Val867Leu) | ||
| c.521T>G (p.Leu174Ter) | ||
| c.2222C>G (p.Ser741Cys) | ||
| c.2423T>C (p.Met808Thr) | ||
| c.2231G>T (p.Gly744Val) | ||
| c.1823G>A (p.Arg608Gln) | ||
| c.2395C>G (p.Gln799Glu) | ||
| Angelman | UBE3A | c.389T>C (p.Ile130Thr) |
| c.316A>C (p.Thr106Pro) | ||
| c.2304G>A (p.Trp768Ter) | ||
| c.1249C>T (p.Arg417Ter) | ||
| Apert | FGFR2 | Ser252Trp |
| Pro253Arg | ||
| Ataxia telangectasia | ATM | c.6200C>A (p.Ala2067Asp) |
| c.7268A>G (p.Glu2423Gly) | ||
| c.9139C>T (p.Arg3047Ter) | ||
| c.7967T>C (p.Leu2656Pro) | ||
| c.8480T>G (p.Phe2827Cys) | ||
| c.8030A>G (p.Tyr2677Cys) | ||
| c.7271T>G (p.Val2424Gly) | ||
| c.103C>T (p.Arg35Ter) | ||
| c.7327C>T (p.Arg2443Ter) | ||
| c.7875_7876delTGinsGC (p.Asp2625_Ala2626delinsGluPro) | ||
| Beckwith wiedemann | CDKN1C | c.845C>A (p.Ser282Ter) |
| c.845C>G (p.Ser282Ter) | ||
| c.740C>A (p.Ser247Ter) | ||
| c.310_311delCTinsG (p.Leu104Glyfs) | ||
| c.139C>T (p.Gln47Ter) | ||
| H19 | H19, 5.3-KB DEL | |
| H19, 1.8-KB DEL | ||
| Brugada syndrome type 1 | SCN5A | c.4187delA (p.Lys1396Argfs) |
| c.4259G>A (p.Trp1420Ter) | ||
| c.2204C>T (p.Ala735Val) | ||
| c.5382_5384dupTGA (p.Tyr1794_Glu1795insAsp) | ||
| c.3781G>A (p.Gly1261Ser) | ||
| c.5380T>C (p.Tyr1794His) | ||
| c.3157G>A (p.Glu1053Lys) | ||
| c.5767G>A (p.Ala1923Thr) | ||
| c.1100G>A (p.Arg367His) | ||
| c.4219G>A (p.Gly1407Arg) | ||
| c.4531C>T (p.Arg1511Trp) | ||
| c.5347G>A (p.Glu1783Lys) | ||
| c.3575G>A (p.Arg1192Gln) | ||
| NM_000335.4:c.611+3_611+4dupAA | ||
| c.694G>A (p.Val232Ile) | ||
| c.3691C>T (p.Arg1231Trp) | ||
| c.5382_5384dupTGA (p.Tyr1794_Glu1795insAsp) | ||
| c.5126C>T (p.Ser1709Leu) | ||
| c.3157G>A (p.Glu1053Lys) | ||
| c.4219G>A (p.Gly1407Arg) | ||
| SCN3B | c.29T>C (p.Leu10Pro) | |
| GPD1L | c.839C>T (p.Ala280Val) | |
| CARDIOMYOPATHY | ABCC9 | c.4537G>A (p.Ala1513Thr) |
| ACTC1 | c.-22-15C>G | |
| c.373A>G (p.Met125Val) | ||
| c.214_230del17 (p.Pro72_Ile77delinsHisfs) | ||
| c.1088A>G (p.Glu363Gly) | ||
| c.941G>A (p.Arg314His) | ||
| c.67T>C (p.Phe23Leu) | ||
| c.553C>T (p.Arg185Trp) | ||
| c.496C>G (p.Pro166Ala) | ||
| c.997G>C (p.Ala333Pro) | ||
| c.268C>T (p.His90Tyr) | ||
| c.889G>T (p.Ala297Ser) | ||
| c.301G>A (p.Glu101Lys) | ||
| c.301G>A (p.Glu101Lys) | ||
| c.301G>A (p.Glu101Lys) | ||
| ACTN2 | c.26A>G (p.Gln9Arg) | |
| CALR3 | c.245A>G (p.Lys82Arg) | |
| CAV3 | c.99C>G (p.Asn33Lys) | |
| c.191C>G (p.Thr64Ser) | ||
| c.236T>G (p.Leu79Arg) | ||
| c.40G>C (p.Val14Leu) | ||
| c.253G>A (p.Ala85Thr) | ||
| c.423C>G (p.Ser141Arg) | ||
| c.233C>T (p.Thr78Met) | ||
| c.233C>T (p.Thr78Met) | ||
| c.80G>A (p.Arg27Gln) | ||
| CSRP3 | c.365G>A (p.Arg122Gln) | |
| c.136A>C (p.Ser46Arg) | ||
| c.206A>G (p.Lys69Arg) | ||
| c.131T>C (p.Leu44Pro) | ||
| c.160_164delTCGGAinsAGGGG (p.SerGlu54_55delinsArgGly) | ||
| c.172T>G (p.Cys58Gly) | ||
| c.10T>C (p.Trp4Arg) | ||
| DES | DES, GLU359-ALA360-SER361 DEL | |
| c.735+1G>A | ||
| c.1325C>T (p.Thr442Ile) | ||
| c.1096_1098delAAC (p.Asn366del) | ||
| c.1166A>C (p.Gln389Pro) | ||
| c.1154T>C (p.Leu385Pro) | ||
| c.1216C>T (p.Arg406Trp) | ||
| c.1353C>G (p.Ile451Met) | ||
| c.1178A>T (p.Asn393Ile) | ||
| c.38C>T (p.Ser13Phe) | ||
| c.1255C>T (p.Pro419Ser) | ||
| c.1034T>C (p.Leu345Pro) | ||
| c.1078G>C (p.Ala360Pro) | ||
| c.1009G>C (p.Ala337Pro) | ||
| c.517_537del21 (p.Arg173_Glu179del) | ||
| DSG2 | c.877A>T (p.Ile293Leu) | |
| c.2647T>C (p.Ser883Pro) | ||
| c.941C>A (p.Ser314Ter) | ||
| c.523+2T>C | ||
| c.3061_3062delAG (p.Ser1021Leufs) | ||
| c.2434G>T (p.Gly812Cys) | ||
| c.1880-2A>G | ||
| c.1773_1774delTG (p.Cys591_Glu592delinsTerValfs) | ||
| c.146G>A (p.Arg49His) | ||
| c.137G>A (p.Arg46Gln) | ||
| c.1880-2A>G | ||
| c.797A>G (p.Asn266Ser) | ||
| c.2434G>T (p.Gly812Cys) | ||
| c.1520G>A (p.Cys507Tyr) | ||
| c.137G>A (p.Arg46Gln) | ||
| c.146G>A (p.Arg49His) | ||
| c.166G>A (p.Val56Met) | ||
| c.918G>A (p.Trp306Ter) | ||
| c.1174G>A (p.Val392Ile) | ||
| c.991G>A (p.Glu331Lys) | ||
| c.991G>A (p.Glu331Lys) | ||
| DTNA | c.362C>T (p.Pro121Leu) | |
| FKTN | c.536G>C (p.Arg179Thr) | |
| c.1073A>C (p.Gln358Pro) | ||
| JPH2 | S101R | |
| c.1513G>A (p.Gly505Ser) | ||
| c.1513G>A (p.Gly505Ser) | ||
| c.494C>T (p.Ser165Phe) | ||
| c.421T>C (p.Tyr141His) | ||
| c.1538T>G (p.Phe513Cys) | ||
| LAMP2 | c.463delA (p.Ser155Valfs) | |
| c.865-1G>C | ||
| c.463delA (p.Ser155Valfs) | ||
| c.65-2A>G | ||
| c.293G>A (p.Trp98Ter) | ||
| c.217_218insA (p.Thr73delinsAsnIlefs) | ||
| c.191delT (p.Val64Glufs) | ||
| c.183T>G (p.Tyr61Ter) | ||
| c.183T>A (p.Tyr61Ter) | ||
| c.928G>A (p.Val310Ile) | ||
| c.864+3_864+6delGAGT | ||
| LDB3 | c.349G>A (p.Asp117Asn) | |
| c.617C>T (p.Thr206Ile) | ||
| c.566C>T (p.Ser189Leu) | ||
| c.440C>T (p.Ala147Val) | ||
| c.2017G>A (p.Asp673Asn) | ||
| c.383A>T (p.Lys128Met) | ||
| c.1035C>G (p.Ile345Met) | ||
| c.802C>T (p.Arg268Cys) | ||
| c.494C>T (p.Ala165Val) | ||
| c.494C>T (p.Ala165Val) | ||
| c.2017G>A (p.Asp673Asn) | ||
| c.439G>A (p.Ala147Thr) | ||
| c.2092G>A (p.Ala698Thr) | ||
| c.1051A>G (p.Thr351Ala) | ||
| c.2092G>A (p.Ala698Thr) | ||
| LMNA | c.674G>A (p.Arg225Gln) | |
| c.664C>T (p.His222Tyr) | ||
| c.176T>G (p.Leu59Arg) | ||
| c.959delT (p.Arg321Glufs*159) | ||
| c.1589T>C (p.Leu530Pro) | ||
| c.1357C>T (p.Arg453Trp) | ||
| c.961C>T (p.Arg321Ter) | ||
| c.958delC (p.Leu320Phefs) | ||
| c.799T>C (p.Tyr267His) | ||
| c.673C>T (p.Arg225Ter) | ||
| c.607G>A (p.Glu203Lys) | ||
| c.481G>A (p.Glu161Lys) | ||
| c.348_349insG (p.Leu116_Lys117delinsLeuGluSerfs) | ||
| c.16C>T (p.Gln6Ter) | ||
| c.1445G>A (p.Arg482Gln) | ||
| c.992G>A (p.Arg331Gln) | ||
| c.976T>A (p.Ser326Thr) | ||
| c.949G>A (p.Glu317Lys) | ||
| c.863C>G (p.Ala288Gly) | ||
| c.781_783delAAG (p.Lys261del) | ||
| c.763delC (p.Gln255Argfs) | ||
| c.749C>T (p.Ala250Val) | ||
| c.700C>T (p.Gln234Ter) | ||
| c.629T>G (p.Ile210Ser) | ||
| c.513+1G>C | ||
| c.485T>C (p.Leu162Pro) | ||
| c.448A>C (p.Thr150Pro) | ||
| c.356G>C (p.Arg119Pro) | ||
| c.1621C>T (p.Arg541Cys) | ||
| c.154C>G (p.Leu52Val) | ||
| c.1526dupC (p.Thr510Tyrfs*42) | ||
| c.1442A>G (p.Tyr481Cys) | ||
| c.1146C>T (p.Gly382Gly=) | ||
| c.1129C>T (p.Arg377Cys) | ||
| c.1112_1115dupTGGA (p.Glu372delinsAspGlyAspfs) | ||
| c.1111_1125delATGGAGATCCACGCC | ||
| (p.Met371_Ala375del) | ||
| c.1106T>C (p.Leu369Pro) | ||
| c.1072G>A (p.Glu358Lys) | ||
| c.398G>C (p.Arg133Pro) | ||
| c.1580G>C (p.Arg527Pro) | ||
| c.16C>T (p.Gln6Ter) | ||
| c.169G>C (p.Ala57Pro) | ||
| c.673C>T (p.Arg225Ter) | ||
| c.644T>C (p.Leu215Pro) | ||
| c.607G>A (p.Glu203Lys) | ||
| c.1003C>T (p.Arg335Trp) | ||
| c.1621C>G (p.Arg541Gly) | ||
| c.481G>A (p.Glu161Lys) | ||
| c.608A>G (p.Glu203Gly) | ||
| c.254T>G (p.Leu85Arg) | ||
| c.178C>G (p.Arg60Gly) | ||
| c.1718C>T (p.Ser573Leu) | ||
| c.959delT (p.Arg321Glufs*159) | ||
| c.1711C>A (p.Arg571Ser) | ||
| c.1130G>A (p.Arg377His) | ||
| c.585C>G (p.Asn195Lys) | ||
| c.1412G>A (p.Arg471His) | ||
| c.178C>G (p.Arg60Gly) | ||
| MIOZ2 | ND | |
| MYBPC3 | c.984_1054del (p.Pro329_Leu352delinsGlnfs) | |
| c.927-9G>A | ||
| c.927-2A>G | ||
| c.913_914delTT (p.Phe305Profs) | ||
| c.821+2T>C | ||
| c.772G>A (p.Glu258Lys) | ||
| c.821+1G>A | ||
| c.772+1G>A | ||
| c.655-1G>A | ||
| c.613C>T (p.Gln205Ter) | ||
| c.540_559del (p.Ala181_Pro187delinsCysfs) | ||
| c.506-2A>C | ||
| c.506-1G>T | ||
| c.459delC (p.Ile154Leufs) | ||
| c.436_437insA (p.Thr146delinsAsnProfs) | ||
| c.431_432delGT (p.Gly144Alafs) | ||
| c.3811C>T (p.Arg1271Ter) | ||
| c.3697C>T (p.Gln1233Ter) | ||
| c.3694A>T (p.Lys1232Ter) | ||
| c.362delC (p.Pro121Argfs) | ||
| c.3627+1G>A | ||
| c.3624delC (p.Lys1209Serfs) | ||
| c.3624_3625insC (p.Lys1209delinsGlnAlafs) | ||
| c.350delC (p.Pro117Leufs) | ||
| c.3491-2A>T | ||
| c.3490+1G>A | ||
| c.3476_3479dupTTAT (p.Pro1161delinsTyrProfs) | ||
| c.3330+5G>C | ||
| c.3330+2T>G | ||
| c.3297_3298insG (p.Tyr1100delinsValHisfs) | ||
| c.3293G>A (p.Trp1098Ter) | ||
| c.3286G>T (p.Glu1096Ter) | ||
| c.3253G>T (p.Glu1085Ter) | ||
| c.3226_3227insT (p.Asp1076delinsValArgfs) | ||
| c.3192_3193insC (p.Lys1065delinsGlnAlafs) | ||
| c.3233G>A (p.Trp1078Ter) | ||
| c.3190+2T>G | ||
| c.3181C>T (p.Gln1061Ter) | ||
| c.3068_3069insA (p.Asn1023delinsLysGlnfs) | ||
| c.3040delC (p.Leu1014Trpfs) | ||
| c.2943_2947delGACCA (p.Gln981_Ile983delinsHisSerfs) | ||
| c.2905C>T (p.Gln969Ter) | ||
| c.2905+1G>C | ||
| c.2905+1G>A | ||
| c.2864_2865delCT (p.Pro955Argfs) | ||
| c.2833_2834delCG (p.Arg945Glyfs) | ||
| c.2827C>T (p.Arg943Ter) | ||
| c.2670G>A (p.Trp890Ter) | ||
| c.2610_2611insC (p.Ser871delinsGlnArgfs) | ||
| c.26-2A>G | ||
| c.2558delG (p.Gly853Alafs) | ||
| c.2556_2557delCGinsTCT (p.Gly853delinsLeuHisfs) | ||
| c.2541C>G (p.Tyr847Ter) | ||
| c.2534_2538delGCGTC (p.Arg845_Val846delinsLeufs) | ||
| c.2524_2525insT (p.Tyr842delinsLeuArgfs) | ||
| c.2490_2491insT (p.His831delinsSerTerfs) | ||
| c.2454G>A (p.Trp818Ter) | ||
| c.2373_2374insG (p.Trp792delinsValGlyfs) | ||
| c.2311_2312insG (p.Val771delinsGlyAlafs) | ||
| c.2309-2A>G | ||
| c.2308+1G>T | ||
| c.2308+1G>A | ||
| c.2182G>T (p.Glu728Ter) | ||
| c.2163delC (p.Glu722Argfs) | ||
| c.2113_2114insA (p.Thr705delinsAsnArgfs) | ||
| c.2096delC (p.Pro699Glnfs) | ||
| c.2040_2041insT (p.Val681delinsCysAspfs) | ||
| c.2013_2016delCCCTinsGG (p.Pro672Aspfs) | ||
| c.2048G>A (p.Trp683Ter) | ||
| c.1928-2A>G | ||
| c.1897+1G>A | ||
| c.1895delT (p.Met632Argfs) | ||
| c.1892delT (p.Phe631Serfs) | ||
| c.1863delC (p.Phe621Leufs) | ||
| c.1800delA (p.Lys600Asnfs) | ||
| c.177_187del (p.Glu60_Arg63delinsAlafs) | ||
| c.1693A>T (p.Lys565Ter) | ||
| c.1624G>C (p.Glu542Gln) | ||
| c.1575T>G (p.Tyr525Ter) | ||
| c.1505G>A (p.Arg502Gln) | ||
| c.1504C>T (p.Arg502Trp) | ||
| c.1458-1G>A | ||
| c.1351+2T>C | ||
| c.1310delT (p.Val437Glyfs) | ||
| c.1273C>T (p.Gln425Ter) | ||
| c.1235_1236delTT (p.Phe412Terfs) | ||
| c.1224-2A>G | ||
| c.1168delC (p.His390Metfs) | ||
| c.1156G>T (p.Glu386Ter) | ||
| c.529C>T (p.Arg177Cys) | ||
| c.2914C>T (p.Arg972Trp) | ||
| c.2537T>A (p.Val846Asp) | ||
| c.1544A>G (p.Asn515Ser) | ||
| c.927-10C>A | ||
| c.836G>C (p.Gly279Ala) | ||
| c.821+5G>A | ||
| c.710A>C (p.Tyr237Ser) | ||
| c.655G>C (p.Val219Leu) | ||
| c.551_552insT (p.Lys185Glufs) | ||
| c.3G>C (p.Met1Ile) | ||
| c.3815-1G>A | ||
| c.3797G>A (p.Cys1266Tyr) | ||
| c.3735delC (p.Phe1246Leufs) | ||
| c.3599T>C (p.Leu1200Pro) | ||
| c.3548T>G (p.Phe1183Cys) | ||
| c.3330+5G>T | ||
| c.2528_2536delAGATGCGCG (p.Glu843_Val846delinsVal) | ||
| c.1814_1816delACG (p.Asp605_Val606delinsVal) | ||
| c.1624+4A>T | ||
| c.1483C>G (p.Arg495Gly) | ||
| c.1456T>G (p.Trp486Gly) | ||
| c.1227-13G>A | ||
| c.3408C>A (p.Tyr1136Ter) | ||
| c.932C>A (p.Ser311Ter) | ||
| c.2618C>A (p.Pro873His) | ||
| c.3330+2T>G | ||
| c.175A>G (p.Thr59Ala) | ||
| c.1624G>C (p.Glu542Gln) | ||
| c.3373G>A (p.Val1125Met) | ||
| c.3330+5G>A | ||
| c.1469G>T (p.Gly490Val) | ||
| c.2827C>T (p.Arg943Ter) | ||
| c.2459G>A (p.Arg820Gln) | ||
| c.3286G>T (p.Glu1096Ter) | ||
| c.2870C>G (p.Thr957Ser) | ||
| c.2374T>C (p.Trp792Arg) | ||
| c.2497G>A (p.Ala833Thr) | ||
| c.2308G>A (p.Asp770Asn) | ||
| c.1321G>A (p.Glu441Lys) | ||
| c.1468G>A (p.Gly490Arg) | ||
| c.3791G>T (p.Cys1264Phe) | ||
| c.2843A>C (p.Asn948Thr) | ||
| c.2497G>A (p.Ala833Thr) | ||
| c.1468G>A (p.Gly490Arg) | ||
| MYH6 | c.1753G>A (p.Gly585Ser) | |
| c.4369G>A (p.Glu1457Lys) | ||
| c.3010G>T (p.Ala1004Ser) | ||
| c.2489C>T (p.Pro830Leu) | ||
| c.3195G>C (p.Gln1065His) | ||
| c.2384G>A (p.Arg795Gln) | ||
| MYH7 | E743D | |
| c.3781A>C (p.Ser1261Arg) | ||
| c.667G>A (p.Ala223Thr) | ||
| c.2292C>G (p.Phe764Leu) | ||
| c.1594T>C (p.Ser532Pro) | ||
| c.1925C>T (p.Ser642Leu) | ||
| c.767G>A (p.Gly256Glu) | ||
| c.746G>A (p.Arg249Gln) | ||
| c.438G>T (p.Lys146Asn) | ||
| c.4135G>A (p.Ala1379Thr) | ||
| c.2791_2793delGAG (p.Glu931del) | ||
| c.2788G>A (p.Glu930Lys) | ||
| c.2770G>A (p.Glu924Lys) | ||
| c.2722C>G (p.Leu908Val) | ||
| c.2744T>C (p.Leu915Pro) | ||
| c.2717A>G (p.Asp906Gly) | ||
| c.2609G>A (p.Arg870His) | ||
| c.2389G>A (p.Ala797Thr) | ||
| c.2221G>C (p.Gly741Arg) | ||
| c.2221G>A (p.Gly741Arg) | ||
| c.2167C>T (p.Arg723Cys) | ||
| c.2167C>G (p.Arg723Gly) | ||
| c.2156G>A (p.Arg719Gln) | ||
| c.2155C>T (p.Arg719Trp) | ||
| c.2146G>A (p.Gly716Arg) | ||
| c.1988G>A (p.Arg663His) | ||
| c.1816G>A (p.Val606Met) | ||
| c.1357C>T (p.Arg453Cys) | ||
| c.1208G>A (p.Arg403Gln) | ||
| c.1207C>T (p.Arg403Trp) | ||
| c.3337G>A (p.Ala1113Thr) | ||
| c.2652_2654delGAA (p.Lys884_Asn885delinsAsn) | ||
| c.2585C>T (p.Ala862Val) | ||
| c.991G>C (p.Ala331Pro) | ||
| c.968T>A (p.Ile323Asn) | ||
| c.872C>T (p.Ser291Phe) | ||
| c.788T>C (p.Ile263Thr) | ||
| c.734G>A (p.Gly245Glu) | ||
| c.715G>A (p.Asp239Asn) | ||
| c.602T>C (p.Ile201Thr) | ||
| c.5740G>A (p.Glu1914Lys) | ||
| c.5726G>C (p.Arg1909Pro) | ||
| c.5717C>G (p.Ala1906Gly) | ||
| c.560A>G (p.Asn187Ser) | ||
| c.5588G>A (p.Arg1863Gln) | ||
| c.5401G>A (p.Glu1801Lys) | ||
| c.5380C>G (p.Gln1794Glu) | ||
| c.5380C>A (p.Gln1794Lys) | ||
| c.5342G>A (p.Arg1781His) | ||
| c.5341C>T (p.Arg1781Cys) | ||
| c.5302G>A (p.Glu1768Lys) | ||
| c.5186_5188delAGA (p.Lys1729_Met1730delinsMet) | ||
| c.507A>T (p.Arg169Ser) | ||
| c.506G>A (p.Arg169Lys) | ||
| c.5015_5020delCCATCG (p.Ala1672_Val1674delinsVal) | ||
| c.49C>T (p.Arg17Cys) | ||
| c.4954G>T (p.Asp1652Tyr) | ||
| c.4900C>T (p.Arg1634Cys) | ||
| c.4720C>T (p.Arg1574Trp) | ||
| c.4522_4524delGAG (p.Glu1508del) | ||
| c.4487A>C (p.Glu1496Ala) | ||
| c.4348G>A (p.Asp1450Asn) | ||
| c.4276G>A (p.Glu1426Lys) | ||
| c.3856G>A (p.Glu1286Lys) | ||
| c.3578G>A (p.Arg1193His) | ||
| c.3464G>A (p.Gly1155Glu) | ||
| c.3455A>T (p.Glu1152Val) | ||
| c.343T>C (p.Tyr115His) | ||
| c.3134G>T (p.Arg1045Leu) | ||
| c.3083A>G (p.Glu1028Gly) | ||
| c.2711G>A (p.Arg904His) | ||
| c.2681A>G (p.Glu894Gly) | ||
| c.2623_2625delGAG (p.Glu875del) | ||
| c.2525G>A (p.Ser842Asn) | ||
| c.2513C>T (p.Pro838Leu) | ||
| c.2502C>G (p.Phe834Leu) | ||
| c.2348G>C (p.Arg783Pro) | ||
| c.2296A>C (p.Lys766Gln) | ||
| c.2285A>G (p.Lys762Arg) | ||
| c.2168G>A (p.Arg723His) | ||
| c.2123G>C (p.Gly708Ala) | ||
| c.2105T>A (p.Ile702Asn) | ||
| c.2093T>C (p.Val698Ala) | ||
| c.2069T>C (p.Met690Thr) | ||
| c.1987C>T (p.Arg663Cys) | ||
| c.1798C>T (p.Pro600Ser) | ||
| c.1791C>A (p.Asn597Lys) | ||
| c.1757T>C (p.Val586Ala) | ||
| c.1750G>C (p.Gly584Arg) | ||
| c.1750G>A (p.Gly584Ser) | ||
| c.1742A>G (p.His581Arg) | ||
| c.1700G>A (p.Arg567His) | ||
| c.1612T>C (p.Cys538Arg) | ||
| c.1598T>A (p.Ile533Asn) | ||
| c.1597A>G (p.Ile533Val) | ||
| c.1532T>C (p.Ile511Thr) | ||
| c.1491G>T (p.Glu497Asp) | ||
| c.1405G>T (p.Asp469Tyr) | ||
| c.1370T>C (p.Ile457Thr) | ||
| c.1358G>A (p.Arg453His) | ||
| c.1318G>A (p.Val440Met) | ||
| c.1273G>A (p.Gly425Arg) | ||
| c.1204C>A (p.Pro402Thr) | ||
| c.1106G>A (p.Arg369Gln) | ||
| c.5135G>A (p.Arg1712Gln) | ||
| c.1207C>T (p.Arg403Trp) | ||
| c.3981C>A (p.Asn1327Lys) | ||
| c.1357C>A (p.Arg453Ser) | ||
| c.1491G>T (p.Glu497Asp) | ||
| c.2609G>A (p.Arg870His) | ||
| c.5134C>T (p.Arg1712Trp) | ||
| c.2803G>A (p.Glu935Lys) | ||
| c.2146G>A (p.Gly716Arg) | ||
| c.1208G>T (p.Arg403Leu) | ||
| c.2333A>G (p.Asp778Gly) | ||
| c.767G>A (p.Gly256Glu) | ||
| c.2221G>C (p.Gly741Arg) | ||
| c.2722C>G (p.Leu908Val) | ||
| c.2167C>T (p.Arg723Cys) | ||
| c.2845G>A (p.Glu949Lys) | ||
| c.2770G>A (p.Glu924Lys) | ||
| c.1750G>C (p.Gly584Arg) | ||
| c.746G>A (p.Arg249Gln) | ||
| c.2183C>T (p.Ala728Val) | ||
| c.1046T>C (p.Met349Thr) | ||
| c.2717A>G (p.Asp906Gly) | ||
| c.5647G>A (p.Glu1883Lys) | ||
| c.1447G>A (p.Glu483Lys) | ||
| c.2156G>A (p.Arg719Gln) | ||
| c.2155C>T (p.Arg719Trp) | ||
| c.1538T>G (p.Phe513Cys) | ||
| c.1816G>A (p.Val606Met) | ||
| c.1357C>T (p.Arg453Cys) | ||
| c.728G>A (p.Arg243His) | ||
| c.5378T>C (p.Leu1793Pro) | ||
| c.1208G>A (p.Arg403Gln) | ||
| c.5533C>T (p.Arg1845Trp) | ||
| N1918K | ||
| c.5647G>A (p.Glu1883Lys) | ||
| c.728G>A (p.Arg243His) | ||
| c.5378T>C (p.Leu1793Pro) | ||
| c.5378T>C (p.Leu1793Pro) | ||
| c.5533C>T (p.Arg1845Trp) | ||
| MYL2 | c.283C>G (p.Pro95Ala) | |
| c.52T>C (p.Phe18Leu) | ||
| c.37G>A (p.Ala13Thr) | ||
| c.64G>A (p.Glu22Lys) | ||
| c.359G>A (p.Arg120Gln) | ||
| c.80A>G (p.Gln27Arg) | ||
| c.488A>C (p.Glu163Ala) | ||
| c.485G>A (p.Gly162Glu) | ||
| c.401A>C (p.Glu134Ala) | ||
| c.260G>C (p.Gly87Ala) | ||
| c.193G>A (p.Glu65Lys) | ||
| c.170G>A (p.Gly57Glu) | ||
| c.173G>A (p.Arg58Gln) | ||
| c.173G>A (p.Arg58Gln) | ||
| c.427G>A (p.Glu143Lys) | ||
| MYL3 | c.461G>A (p.Arg154His) | |
| c.427G>A (p.Glu143Lys) | ||
| c.445A>G (p.Met149Val) | ||
| c.530A>G (p.Glu177Gly) | ||
| c.281G>A (p.Arg94His) | ||
| MYLK2 | c.595A>G (p.Ile199Val) | |
| c.260C>T (p.Ala87Val) | ||
| c.284C>A (p.Ala95Glu) | ||
| c.430C>G (p.Pro144Ala) | ||
| E743D | ||
| NEXN | c.835C>T (p.Arg279Cys) | |
| c.391C>G (p.Gln131Glu) | ||
| c.1831C>A (p.Pro611Thr) | ||
| c.1955A>G (p.Tyr652Cys) | ||
| PLN | c.40_42delAGA (p.Arg14del) | |
| c.25C>T (p.Arg9Cys) | ||
| c.116T>G (p.Leu39Ter) | ||
| c.116T>G (p.Leu39Ter) | ||
| PRKAG2 | c.879C>A (p.Phe293Leu) | |
| c.298G>A (p.Gly100Ser) | ||
| c.905G>A (p.Arg302Gln) | ||
| c.1592G>A (p.Arg531Gln) | ||
| c.967T>A (p.Phe323Ile) | ||
| c.1390G>A (p.Asp464Asn) | ||
| c.1199C>A (p.Thr400Asn) | ||
| c.1642T>C (p.Ser548Pro) | ||
| c.1516G>C (p.Glu506Gln) | ||
| c.1589A>G (p.His530Arg) | ||
| c.1459T>C (p.Tyr487His) | ||
| c.1148A>G (p.His383Arg) | ||
| c.1199C>A (p.Thr400Asn) | ||
| c.1463A>T (p.Asn488Ile) | ||
| c.905G>A (p.Arg302Gln) | ||
| PRKAG2 | c.879C>A (p.Phe293Leu) | |
| c.298G>A (p.Gly100Ser) | ||
| c.905G>A (p.Arg302Gln) | ||
| c.1592G>A (p.Arg531Gln) | ||
| c.967T>A (p.Phe323Ile) | ||
| c.1390G>A (p.Asp464Asn) | ||
| c.1199C>A (p.Thr400Asn) | ||
| c.1642T>C (p.Ser548Pro) | ||
| c.1516G>C (p.Glu506Gln) | ||
| c.1589A>G (p.His530Arg) | ||
| c.1459T>C (p.Tyr487His) | ||
| c.1148A>G (p.His383Arg) | ||
| c.1199C>A (p.Thr400Asn) | ||
| c.1463A>T (p.Asn488Ile) | ||
| c.905G>A (p.Arg302Gln) | ||
| PSEN2 | c.389C>T (p.Ser130Leu) | |
| RBM20 | c.1909A>G (p.Ser637Gly) | |
| c.1907G>A (p.Arg636His) | ||
| c.1906C>A (p.Arg636Ser) | ||
| c.1901G>A (p.Arg634Gln) | ||
| c.1913C>T (p.Pro638Leu) | ||
| c.1913C>T (p.Pro638Leu) | ||
| c.1907G>A (p.Arg636His) | ||
| c.1906C>A (p.Arg636Ser) | ||
| SCN5A | c.665G>A (p.Arg222Gln) | |
| c.665G>A (p.Arg222Gln) | ||
| c.2549_2550dupTG (p.Phe851Cysfs) | ||
| c.5504T>C (p.Ile1835Thr) | ||
| c.4780G>C (p.Asp1594His) | ||
| c.659C>T (p.Thr220Ile) | ||
| c.3820G>A (p.Asp1274Asn) | ||
| c.3305C>A (p.Ser1102Tyr) | ||
| c.3820G>A (p.Asp1274Asn) | ||
| c.3820G>A (p.Asp1274Asn) | ||
| SGCD | c.451T>G (p.Ser151Ala) | |
| SLC25A4 | c.111+1G>A | |
| c.368C>A (p.Ala123Asp) | ||
| TAZ | c.718G>C (p.Gly240Arg) | |
| c.823C>T (p.Gln275Ter) | ||
| c.700-1G>A | ||
| c.208C>T (p.Gln70Ter) | ||
| TCAP | c.260G>A (p.Arg87Gln) | |
| c.157C>T (p.Gln53Ter) | ||
| c.157C>T (p.Gln53Ter) | ||
| c.10T>C (p.Trp4Arg) | ||
| TMPO | c.2068C>T (p.Arg690Cys) | |
| TNNC1 | c.476G>A (p.Gly159Asp) | |
| c.91G>T (p.Ala31Ser) | ||
| c.435C>A (p.Asp145Glu) | ||
| c.251G>A (p.Cys84Tyr) | ||
| c.23C>T (p.Ala8Val) | ||
| c.86T>A (p.Leu29Gln) | ||
| TNNT2 | c.266T>A (p.Ile89Asn) | |
| c.842+1G>A | ||
| c.650_652delAGA (p.Lys217_Ile218delinsIle) | ||
| c.517_519delGAG (p.Glu173del) | ||
| c.311G>A (p.Arg104His) | ||
| c.305G>A (p.Arg102Gln) | ||
| c.304C>T (p.Arg102Trp) | ||
| c.266T>A (p.Ile89Asn) | ||
| c.548G>A (p.Arg183Gln) | ||
| c.505C>T (p.Arg169Ter) | ||
| c.446G>A (p.Arg149His) | ||
| c.430C>G (p.Arg144Gly) | ||
| c.422G>C (p.Arg141Pro) | ||
| c.422G>A (p.Arg141Gln) | ||
| c.418C>T (p.Arg140Cys) | ||
| c.382G>A (p.Glu128Lys) | ||
| c.321G>T (p.Lys107Asn) | ||
| c.311G>T (p.Arg104Leu) | ||
| TPM1 | c.118G>A (p.Glu40Lys) | |
| c.160G>A (p.Glu54Lys) | ||
| c.284T>C (p.Val95Ala) | ||
| c.539A>G (p.Glu180Gly) | ||
| c.673A>G (p.Ile225Val) | ||
| c.632C>G (p.Ala211Gly) | ||
| c.609C>G (p.Asn203Lys) | ||
| c.790A>G (p.Lys264Glu) | ||
| c.725C>T (p.Ala242Val) | ||
| c.475G>A (p.Asp159Asn) | ||
| c.457C>G (p.His153Asp) | ||
| c.423G>C (p.Met141Ile) | ||
| c.341A>G (p.Glu114Gly) | ||
| c.337C>G (p.Leu113Val) | ||
| c.23T>G (p.Met8Arg) | ||
| c.163G>A (p.Asp55Asn) | ||
| c.688G>A (p.Asp230Asn) | ||
| c.479G>A (p.Arg160His) | ||
| c.275T>C (p.Ile92Thr) | ||
| c.574G>A (p.Glu192Lys) | ||
| c.742A>G (p.Lys248Glu) | ||
| c.523G>A (p.Asp175Asn) | ||
| c.523G>A (p.Asp175Asn) | ||
| c.523G>A (p.Asp175Asn) | ||
| TNNI3 | c.555C>G (p.Asn185Lys) | |
| c.106A>C (p.Lys36Gln) | ||
| c.511G>A (p.Ala171Thr) | ||
| c.431T>A (p.Leu144Gln) | ||
| c.433C>T (p.Arg145Trp) | ||
| c.532A>G (p.Lys178Glu) | ||
| c.575G>A (p.Arg192His) | ||
| c.569A>G (p.Asp190Gly) | ||
| c.557G>A (p.Arg186Gln) | ||
| c.470C>T (p.Ala157Val) | ||
| c.532_534delAAG (p.Lys178del) | ||
| c.433C>T (p.Arg145Trp) | ||
| c.433C>G (p.Arg145Gly) | ||
| c.562G>A (p.Val188Met) | ||
| c.5C>T (p.Ala2Val) | ||
| c.550G>A (p.Glu184Lys) | ||
| c.544G>A (p.Glu182Lys) | ||
| c.485G>C (p.Arg162Pro) | ||
| c.485G>A (p.Arg162Gln) | ||
| c.464T>C (p.Met155Thr) | ||
| c.434G>A (p.Arg145Gln) | ||
| c.431T>C (p.Leu144Pro) | ||
| c.422G>A (p.Arg141Gln) | ||
| c.307C>T (p.Arg103Cys) | ||
| c.1A>G (p.Met1Val) | ||
| c.12-1G>T | ||
| c.61C>T (p.Arg21Cys) | ||
| c.607G>A (p.Gly203Ser) | ||
| c.586G>A (p.Asp196Asn) | ||
| c.616A>C (p.Lys206Gln) | ||
| c.569A>G (p.Asp190Gly) | ||
| c.244C>T (p.Pro82Ser) | ||
| c.433C>G (p.Arg145Gly) | ||
| c.86T>A (p.Leu29Gln) | ||
| c.1357C>A (p.Arg453Ser) | ||
| TTN | c.14339G>A (p.Ser4780Asn) | |
| c.13108C>T (p.Gln4370Ter) | ||
| c.160G>A (p.Val54Met) | ||
| c.2228C>T (p.Ala743Val) | ||
| c.2219G>T (p.Arg740Leu) | ||
| c.2926T>C (p.Trp976Arg) | ||
| c.12208G>T (p.Glu4070Ter) | ||
| c.102949C>T (p.Gln34317Ter) | ||
| c.93897delT (p.Phe31299Leufs) | ||
| c.90778_90779insT (p.Tyr30260delinsLeuGlnfs) | ||
| c.90587delA (p.Lys30196Argfs) | ||
| c.86821+2T>A | ||
| c.81532G>T (p.Glu27178Ter) | ||
| c.6678_6681delAAAG (p.Lys2227Phefs) | ||
| c.73845delA (p.Glu24615Aspfs) | ||
| c.73827delA (p.Glu24609Aspfs) | ||
| c.71602C>T (p.Arg23868Ter) | ||
| c.69458_69461dupAGAA (p.Asn23154delinsLysGluHisfs) | ||
| c.66618C>A (p.Cys22206Ter) | ||
| c.61876C>T (p.Arg20626Ter) | ||
| c.59205delG (p.Glu19735Aspfs) | ||
| c.57995delA (p.His19332Profs) | ||
| c.57847+1G>A | ||
| c.57331C>T (p.Arg19111Ter) | ||
| c.57215delG (p.Gly19072Glufs) | ||
| c.56732_56733insA (p.Asp18911delinsGluTrpfs) | ||
| c.56647+1G>A | ||
| c.54636T>G (p.Tyr18212Ter) | ||
| c.50618G>A (p.Trp16873Ter) | ||
| c.47506C>T (p.Gln15836Ter) | ||
| c.46782C>A (p.Tyr15594Ter) | ||
| c.46773T>A (p.Tyr15591Ter) | ||
| c.46069_46070delAT (p.Met15357Valfs) | ||
| c.45307C>T (p.Arg15103Ter) | ||
| c.44364delC (p.Tyr14789Thrfs) | ||
| c.41610delA (p.Val13871Serfs) | ||
| c.3034C>T (p.Arg1012Ter) | ||
| c.1800+1G>A | ||
| c.105524_105531delACCAAGTG (p.His35175_Val35177delinsHisfs) | ||
| c.106571delA (p.Lys35524Argfs*22) | ||
| NM_133378.4:c.81493_81493+2delGGT | ||
| c.107780_107790delAAGTAACATGGinsTGAAAGAAAAA (p.Glu35927_Trp35930delinsValLysGluLys) | ||
| VCL | c.829C>A (p.Leu277Met) | |
| c.2923C>T (p.Arg975Trp) | ||
| c.659_660insA (p.Asn220delinsLysProfs) | ||
| c.562C>T (p.Arg188Ter) | ||
| c.313C>T (p.Arg105Ter) | ||
| c.1639C>T (p.Arg547Ter) | ||
| c.2923C>T (p.Arg975Trp) | ||
| c.59A>G (p.Tyr20Cys) | ||
| c.59A>G (p.Tyr20Cys) | ||
| Charcot marie tooth CMT1 | PMP22 | c.469C>T (p.Arg157Trp) |
| c.110A>T (p.Asp37Val) | ||
| c.448G>T (p.Gly150Cys) | ||
| c.206T>A (p.Met69Lys) | ||
| c.353C>T (p.Thr118Met) | ||
| c.281dupG (p.Gly94delinsGlyGlnfs) | ||
| c.36C>A (p.His12Gln) | ||
| c.65C>T (p.Ser22Phe) | ||
| c.199G>A (p.Ala67Thr) | ||
| c.215C>T (p.Ser72Leu) | ||
| c.236C>G (p.Ser79Cys) | ||
| c.281dupG (p.Gly94delinsGlyGlnfs) | ||
| c.353C>T (p.Thr118Met) | ||
| c.82T>C (p.Trp28Arg) | ||
| c.65C>T (p.Ser22Phe) | ||
| c.199G>C (p.Ala67Pro) | ||
| c.47T>C (p.Leu16Pro) | ||
| c.353C>T (p.Thr118Met) | ||
| MPZ | T216E | |
| S34del | ||
| D195Y | ||
| V102V | ||
| c.499G>C (p.Gly167Arg) | ||
| c.371C>A (p.Thr124Lys) | ||
| c.233C>T (p.Ser78Leu) | ||
| c.393C>A (p.Asn131Lys) | ||
| c.103G>T (p.Asp35Tyr) | ||
| c.184A>T (p.Ile62Phe) | ||
| c.499G>C (p.Gly167Arg) | ||
| c.188C>G (p.Ser63Cys) | ||
| c.649C>T (p.Pro217Ser) | ||
| c.645+1G>T | ||
| c.347A>G (p.Asn116Ser) | ||
| c.164G>T (p.Ser55Ile) | ||
| c.670G>T (p.Asp224Tyr) | ||
| c.588dupT (p.Ala196delinsAlaTyrfs) | ||
| c.487G>C (p.Gly163Arg) | ||
| c.389A>G (p.Lys130Arg) | ||
| c.337G>T (p.Val113Phe) | ||
| c.306delA (p.Val102Val=fs) | ||
| c.266T>C (p.Ile89Thr) | ||
| c.244T>C (p.Tyr82His) | ||
| c.241C>T (p.His81Tyr) | ||
| c.175T>A (p.Ser59Thr) | ||
| c.89T>C (p.Ile30Thr) | ||
| c.313C>A (p.Pro105Thr) | ||
| c.290A>T (p.Glu97Val) | ||
| c.186C>G (p.Ile62Met) | ||
| c.270C>A (p.Asp90Glu) | ||
| c.367G>A (p.Gly123Ser) | ||
| c.178G>C (p.Asp60His) | ||
| c.434A>C (p.Tyr145Ser) | ||
| c.308G>A (p.Gly103Glu) | ||
| c.643C>T (p.Gln215Ter) | ||
| c.188C>T (p.Ser63Phe) | ||
| c.292C>T (p.Arg98Cys) | ||
| c.409G>A (p.Gly137Ser) | ||
| c.404T>C (p.Ile135Thr) | ||
| c.131C>T (p.Ser44Phe) | ||
| c.224A>T (p.Asp75Val) | ||
| c.293G>A (p.Arg98His) | ||
| c.293G>C (p.Arg98Pro) | ||
| c.242A>G (p.His81Arg) | ||
| c.286A>G (p.Lys96Glu) | ||
| c.371C>T (p.Thr124Met) | ||
| c.371C>T (p.Thr124Met) | ||
| c.341T>C (p.Ile114Thr) | ||
| c.266T>A (p.Ile89Asn) | ||
| LITAF | c.403C>T (p.Pro135Ser) | |
| c.403C>A (p.Pro135Thr) | ||
| c.332C>G (p.Ala111Gly) | ||
| c.430G>A (p.Val144Met) | ||
| c.364C>G (p.Leu122Val) | ||
| c.346T>G (p.Trp116Gly) | ||
| c.344C>A (p.Thr115Asn) | ||
| c.334G>A (p.Gly112Ser) | ||
| EGR2 | c.403C>T (p.Pro135Ser) | |
| c.403C>A (p.Pro135Thr) | ||
| c.332C>G (p.Ala111Gly) | ||
| c.430G>A (p.Val144Met) | ||
| c.364C>G (p.Leu122Val) | ||
| c.346T>G (p.Trp116Gly) | ||
| c.344C>A (p.Thr115Asn) | ||
| c.334G>A (p.Gly112Ser) | ||
| Charcot marie tooth CMT2 | MFN2 | c.647T>C (p.Phe216Ser) |
| c.310C>T (p.Arg104Trp) | ||
| c.617C>T (p.Thr206Ile) | ||
| c.827A>G (p.Gln276Arg) | ||
| c.1085C>T (p.Thr362Met) | ||
| c.1090C>T (p.Arg364Trp) | ||
| c.280C>T (p.Arg94Trp) | ||
| c.1403G>A (p.Arg468His) | ||
| c.310C>T (p.Arg104Trp) | ||
| c.2119C>T (p.Arg707Trp) | ||
| c.1071G>C (p.Lys357Asn) | ||
| c.1085C>T (p.Thr362Met) | ||
| c.1090C>T (p.Arg364Trp) | ||
| c.493C>G (p.His165Asp) | ||
| c.205G>T (p.Val69Phe) | ||
| c.751C>G (p.Pro251Ala) | ||
| c.227T>C (p.Leu76Pro) | ||
| c.2219G>C (p.Trp740Ser) | ||
| c.280C>T (p.Arg94Trp) | ||
| c.281G>A (p.Arg94Gln) | ||
| c.839G>A (p.Arg280His) | ||
| KIF1B | c.293A>T (p.Gln98Leu) | |
| RAB7A | c.471G>C (p.Lys157Asn) | |
| c.482A>C (p.Asn161Thr) | ||
| c.484G>A (p.Val162Met) | ||
| c.385C>T (p.Leu129Phe) | ||
| LMNA | c.892C>T (p.Arg298Cys) | |
| TRPV4 | c.947G>A (p.Arg316His) | |
| c.1625C>A (p.Ser542Tyr) | ||
| c.557G>A (p.Arg186Gln) | ||
| c.805C>T (p.Arg269Cys) | ||
| c.694C>T (p.Arg232Cys) | ||
| c.943C>T (p.Arg315Trp) | ||
| c.946C>T (p.Arg316Cys) | ||
| c.806G>A (p.Arg269His) | ||
| BSCL2 | ||
| c.1015C>T (p.Arg339Ter) | ||
| c.826G>C (p.Ala276Pro) | ||
| c.604C>T (p.Arg202Ter) | ||
| c.757G>T (p.Glu253Ter) | ||
| c.461C>T (p.Ser154Leu) | ||
| c.455A>G (p.Asn152Ser) | ||
| c.455A>G (p.Asn152Ser) | ||
| GARS | c.893C>T (p.Pro298Leu) | |
| c.1660G>A (p.Asp554Asn) | ||
| c.374A>G (p.Glu125Gly) | ||
| c.880G>C (p.Gly294Arg) | ||
| NEFL | c.995A>C (p.Gln332Pro) | |
| c.65C>G (p.Pro22Arg) | ||
| c.64C>A (p.Pro22Thr) | ||
| c.446C>T (p.Ala149Val) | ||
| c.293A>G (p.Asn98Ser) | ||
| c.1001A>C (p.Gln334Pro) | ||
| c.628G>T (p.Glu210Ter) | ||
| c.418G>T (p.Glu140Ter) | ||
| c.281T>C (p.Leu94Pro) | ||
| c.64C>T (p.Pro22Ser) | ||
| c.22_23delCCinsAG (p.Pro8Arg) | ||
| c.22_23delCCinsAG (p.Pro8Arg) | ||
| HSPB1 | c.406C>T (p.Arg136Trp) | |
| c.379C>T (p.Arg127Trp) | ||
| c.404C>T (p.Ser135Phe) | ||
| c.995A>C (p.Gln332Pro) | ||
| c.22_23delCCinsAG (p.Pro8Arg) | ||
| c.22_23delCCinsAG (p.Pro8Arg) | ||
| MPZ | T216E | |
| S34del | ||
| D195Y | ||
| V102V | ||
| c.499G>C (p.Gly167Arg) | ||
| c.371C>A (p.Thr124Lys) | ||
| c.233C>T (p.Ser78Leu) | ||
| c.393C>A (p.Asn131Lys) | ||
| c.103G>T (p.Asp35Tyr) | ||
| c.184A>T (p.Ile62Phe) | ||
| c.499G>C (p.Gly167Arg) | ||
| c.188C>G (p.Ser63Cys) | ||
| c.649C>T (p.Pro217Ser) | ||
| c.645+1G>T | ||
| c.347A>G (p.Asn116Ser) | ||
| c.164G>T (p.Ser55Ile) | ||
| c.670G>T (p.Asp224Tyr) | ||
| c.588dupT (p.Ala196delinsAlaTyrfs) | ||
| c.487G>C (p.Gly163Arg) | ||
| c.389A>G (p.Lys130Arg) | ||
| c.337G>T (p.Val113Phe) | ||
| c.306delA (p.Val102Val=fs) | ||
| c.266T>C (p.Ile89Thr) | ||
| c.244T>C (p.Tyr82His) | ||
| c.241C>T (p.His81Tyr) | ||
| c.175T>A (p.Ser59Thr) | ||
| c.89T>C (p.Ile30Thr) | ||
| c.313C>A (p.Pro105Thr) | ||
| c.290A>T (p.Glu97Val) | ||
| c.186C>G (p.Ile62Met) | ||
| c.270C>A (p.Asp90Glu) | ||
| c.367G>A (p.Gly123Ser) | ||
| c.178G>C (p.Asp60His) | ||
| c.434A>C (p.Tyr145Ser) | ||
| c.308G>A (p.Gly103Glu) | ||
| c.643C>T (p.Gln215Ter) | ||
| c.188C>T (p.Ser63Phe) | ||
| c.292C>T (p.Arg98Cys) | ||
| c.409G>A (p.Gly137Ser) | ||
| c.404T>C (p.Ile135Thr) | ||
| c.131C>T (p.Ser44Phe) | ||
| c.224A>T (p.Asp75Val) | ||
| c.293G>A (p.Arg98His) | ||
| c.293G>C (p.Arg98Pro) | ||
| c.242A>G (p.His81Arg) | ||
| c.286A>G (p.Lys96Glu) | ||
| c.371C>T (p.Thr124Met) | ||
| c.371C>T (p.Thr124Met) | ||
| c.341T>C (p.Ile114Thr) | ||
| c.266T>A (p.Ile89Asn) | ||
| GDAP1 | c.487C>T (p.Gln163Ter) | |
| c.980G>A (p.Gly327Asp) | ||
| c.844C>T (p.Arg282Cys) | ||
| c.482G>A (p.Arg161His) | ||
| c.92G>A (p.Trp31Ter) | ||
| c.715C>T (p.Leu239Phe) | ||
| c.821C>T (p.Pro274Leu) | ||
| c.368A>G (p.His123Arg) | ||
| c.467C>G (p.Ala156Gly) | ||
| c.678A>T (p.Arg226Ser) | ||
| c.719G>A (p.Cys240Tyr) | ||
| c.692C>T (p.Pro231Leu) | ||
| c.652C>G (p.Gln218Glu) | ||
| c.469A>C (p.Thr157Pro) | ||
| c.487C>T (p.Gln163Ter) | ||
| c.715C>T (p.Leu239Phe) | ||
| c.715C>T (p.Leu239Phe) | ||
| c.347T>G (p.Met116Arg) | ||
| c.581C>G (p.Ser194Ter) | ||
| c.581C>G (p.Ser194Ter) | ||
| c.358C>T (p.Arg120Trp) | ||
| c.581C>G (p.Ser194Ter) | ||
| HSPB8 | c.423G>T (p.Lys141Asn) | |
| c.423G>C (p.Lys141Asn) | ||
| c.421A>G (p.Lys141Glu) | ||
| DNM2 | LYS558 DEL | |
| c.1135T>G (p.Phe379Val) | ||
| c.1709T>A (p.Leu570His) | ||
| c.1609G>T (p.Gly537Cys) | ||
| c.1684A>G (p.Lys562Glu) | ||
| c.1072G>A (p.Gly358Arg) | ||
| c.1393C>T (p.Arg465Trp) | ||
| c.1105C>T (p.Arg369Trp) | ||
| c.1106G>A (p.Arg369Gln) | ||
| c.1102G>A (p.Glu368Lys) | ||
| c.1856C>G (p.Ser619Trp) | ||
| c.1856C>T (p.Ser619Leu) | ||
| Charcot marie tooth CMT4 | GDAP1 | c.487C>T (p.Gln163Ter) |
| c.980G>A (p.Gly327Asp) | ||
| c.844C>T (p.Arg282Cys) | ||
| c.482G>A (p.Arg161His) | ||
| c.92G>A (p.Trp31Ter) | ||
| c.715C>T (p.Leu239Phe) | ||
| c.821C>T (p.Pro274Leu) | ||
| c.368A>G (p.His123Arg) | ||
| c.467C>G (p.Ala156Gly) | ||
| c.678A>T (p.Arg226Ser) | ||
| c.719G>A (p.Cys240Tyr) | ||
| c.692C>T (p.Pro231Leu) | ||
| c.652C>G (p.Gln218Glu) | ||
| c.469A>C (p.Thr157Pro) | ||
| c.487C>T (p.Gln163Ter) | ||
| c.715C>T (p.Leu239Phe) | ||
| c.715C>T (p.Leu239Phe) | ||
| c.347T>G (p.Met116Arg) | ||
| c.581C>G (p.Ser194Ter) | ||
| c.581C>G (p.Ser194Ter) | ||
| c.358C>T (p.Arg120Trp) | ||
| c.581C>G (p.Ser194Ter) | ||
| MTMR2 | c.1444C>T (p.Gln482Ter) | |
| c.1276C>T (p.Gln426Ter) | ||
| c.826G>T (p.Glu276Ter) | ||
| SBF2 | c.3586C>T (p.Arg1196Ter) | |
| c.2875C>T (p.Gln959Ter) | ||
| c.1459C>T (p.Arg487Ter) | ||
| SH3TC2 | c.505T>C (p.Tyr169His) | |
| c.920G>A (p.Trp307Ter) | ||
| c.3601C>T (p.Gln1201Ter) | ||
| c.3341delC (p.Pro1114Leufs) | ||
| c.3326G>C (p.Arg1109Pro) | ||
| c.28delG (p.Glu10Serfs) | ||
| c.2710C>T (p.Arg904Ter) | ||
| c.2642A>T (p.Asn881Ile) | ||
| c.2491_2492delAG (p.Ser831Ser=fs) | ||
| c.2191delG (p.Glu731Lysfs) | ||
| c.217_227delGCTGCTCGGAGinsCCAGTAA (p.Ala73_Arg76delinsProValSerfs) | ||
| c.1982T>C (p.Leu661Pro) | ||
| c.1972C>T (p.Arg658Cys) | ||
| c.1178-1G>A | ||
| c.2860C>T (p.Arg954Ter) | ||
| c.1969G>A (p.Glu657Lys) | ||
| c.505T>C (p.Tyr169His) | ||
| c.2829T>G (p.Tyr943Ter) | ||
| c.530-2A>G | ||
| c.1747_1748delAG (p.Arg583Alafs) | ||
| c.1586G>A (p.Arg529His) | ||
| c.3325C>T (p.Arg1109Ter) | ||
| c.2860C>T (p.Arg954Ter) | ||
| NDRG1 | c.442C>T (p.Arg148Ter) | |
| EGR2 | c.1075C>T (p.Arg359Trp) | |
| c.1160C>A (p.Thr387Asn) | ||
| c.1142G>A (p.Arg381His) | ||
| c.1076G>A (p.Arg359Gln) | ||
| c.1147G>T (p.Asp383Tyr) | ||
| c.1146T>G (p.Ser382Arg) | ||
| c.803T>A (p.Ile268Asn) | ||
| c.1234G>A (p.Glu412Lys) | ||
| c.1075C>T (p.Arg359Trp) | ||
| c.803T>A (p.Ile268Asn) | ||
| c.1075C>T (p.Arg359Trp) | ||
| c.1225C>T (p.Arg409Trp) | ||
| c.1146T>G (p.Ser382Arg) | ||
| PRX | c.1102C>T (p.Arg368Ter) | |
| c.2857C>T (p.Arg953Ter) | ||
| c.3208C>T (p.Arg1070Ter) | ||
| c.247delC (p.Leu83Cysfs) | ||
| c.2098delG (p.Ala700Profs) | ||
| c.586C>T (p.Arg196Ter) | ||
| c.3208C>T (p.Arg1070Ter) | ||
| c.2145T>A (p.Cys715Ter) | ||
| c.586C>T (p.Arg196Ter) | ||
| c.1951G>A (p.Asp651Asn) | ||
| FGD4 | c.893T>G (p.Met298Arg) | |
| c.1325G>A (p.Arg442His) | ||
| c.1698G>H | ||
| c.1756G>T (p.Gly586Ter) | ||
| c.670C>T (p.Arg224Ter) | ||
| c.823C>T (p.Arg275Ter) | ||
| c.1762-2A>G | ||
| c.893T>C (p.Met298Thr) | ||
| FIG4 | c.547C>T (p.Arg183Ter) | |
| c.122T>C (p.Ile41Thr) | ||
| Charcot marie tooth CMTX | GJB1 | c.571_579dupACCGTCTTC (p.Thr191_Phe193delinsThrValPheThrValPhe) |
| c.556G>A (p.Glu186Lys) | ||
| c.536G>A (p.Cys179Tyr) | ||
| c.43C>T (p.Arg15Trp) | ||
| c.225delG (p.Arg75Arg=fs) | ||
| c.223C>T (p.Arg75Trp) | ||
| c.187G>A (p.Val63Ile) | ||
| c.145T>C (p.Ser49Pro) | ||
| c.123G>C (p.Glu41Asp) | ||
| c.407T>C (p.Val136Ala) | ||
| c.37G>T (p.Val13Leu) | ||
| c.194A>G (p.Tyr65Cys) | ||
| c.467T>G (p.Leu156Arg) | ||
| c.89T>A (p.Ile30Asn) | ||
| c.397T>C (p.Trp133Arg) | ||
| c.514C>T (p.Pro172Ser) | ||
| c.424C>T (p.Arg142Trp) | ||
| c.172C>T (p.Pro58Ser) | ||
| c.254C>G (p.Ser85Cys) | ||
| c.704T>G (p.Phe235Cys) | ||
| c.164C>T (p.Thr55Ile) | ||
| c.614A>G (p.Asn205Ser) | ||
| c.283G>A (p.Val95Met) | ||
| c.415G>A (p.Val139Met) | ||
| c.407T>C (p.Val136Ala) | ||
| c.658C>T (p.Arg220Ter) | ||
| PRPS1 | c.344T>C (p.Met115Thr) | |
| c.129A>C (p.Glu43Asp) | ||
| Charge syndrome | CHD7 | c.4795C>T (p.Gln1599Ter) |
| c.6322G>A (p.Gly2108Arg) | ||
| c.3811G>T (p.Glu1271Ter) | ||
| c.6955C>A (p.Arg2319Ser) | ||
| c.5418C>G (p.Tyr1806Ter) | ||
| c.3770T>G (p.Leu1257Arg) | ||
| c.3082A>G (p.Ile1028Val) | ||
| c.2442+5G>C | ||
| c.2501C>T (p.Ser834Phe) | ||
| Ciliary dyskinesia | DNAI1 | c.2001+1G>A |
| c.1490G>A (p.Gly497Asp) | ||
| c.1543G>A (p.Gly515Ser) | ||
| DNAH5 | G1047R | |
| c.1730G>C (p.Arg577Thr) | ||
| c.10815delT (p.Pro3606Hisfs) | ||
| c.1121T>C (p.Ile374Thr) | ||
| c.1828C>T (p.Gln610Ter) | ||
| c.10555G>C (p.Gly3519Arg) | ||
| Congenital adrenal hyperplasia | CYP21A2 | G375S |
| V304M | ||
| R408C | ||
| R426H | ||
| G424S | ||
| E380D | ||
| H62L | ||
| c.923dupT (p.Leu308Phefs) | ||
| c.844G>C (p.Val282Leu) | ||
| c.874G>A (p.Gly292Ser) | ||
| c.361A>C (p.Lys121Gln) | ||
| c.1217G>A (p.Trp406Ter) | ||
| c.1451_1452delGGinsC (p.Arg484Profs) | ||
| c.920_921insT (p.Phe307delinsPhePhefs) | ||
| c.1360C>T (p.Pro454Ser) | ||
| c.1069C>T (p.Arg357Trp) | ||
| c.844G>T (p.Val282Leu) | ||
| c.844G>T (p.Val282Leu) | ||
| c.92C>T (p.Pro31Leu) | ||
| c.844G>T (p.Val282Leu) | ||
| c.518T>A (p.Ile173Asn) | ||
| c.293-13C>G | ||
| c.713T>A (p.Val238Glu) | ||
| c.713T>A (p.Val238Glu) | ||
| Congenital hypothyroidism | DUOX2 | c.1126C>T (p.Arg376Trp) |
| c.2524C>T (p.Arg842Ter) | ||
| c.2056C>T (p.Gln686Ter) | ||
| c.1300C>T (p.Arg434Ter) | ||
| c.738C>G (p.Tyr246Ter) | ||
| PAX8 | c.143C>T (p.Ser48Phe) | |
| c.119A>C (p.Gln40Pro) | ||
| c.160A>G (p.Ser54Gly) | ||
| c.170G>A (p.Cys57Tyr) | ||
| c.185T>G (p.Leu62Arg) | ||
| c.92G>A (p.Arg31His) | ||
| c.322C>T (p.Arg108Ter) | ||
| SLC5A5 | c.1628G>A (p.Gly543Glu) | |
| c.277G>C (p.Gly93Arg) | ||
| c.1593C>G (p.Tyr531Ter) | ||
| c.799C>G (p.Gln267Glu) | ||
| c.816C>A (p.Cys272Ter) | ||
| c.1183G>A (p.Gly395Arg) | ||
| c.1060A>C (p.Thr354Pro) | ||
| TG | c.7007G>A (p.Arg2336Gln) | |
| c.5690G>A (p.Cys1897Tyr) | ||
| c.3229T>C (p.Cys1077Arg) | ||
| c.6725G>A (p.Arg2242His) | ||
| c.7123G>A (p.Gly2375Arg) | ||
| c.5986T>A (p.Cys1996Ser) | ||
| c.3733T>C (p.Cys1245Arg) | ||
| c.4588C>T (p.Arg1530Ter) | ||
| c.886C>T (p.Arg296Ter) | ||
| TPO | c.1978C>G (p.Gln660Glu) | |
| c.1943G>A (p.Arg648Gln) | ||
| c.1768G>A (p.Gly590Ser) | ||
| c.1357T>G (p.Tyr453Asp) | ||
| c.1339A>T (p.Ile447Phe) | ||
| c.1618C>T (p.Arg540Ter) | ||
| c.2077C>T (p.Arg693Trp) | ||
| c.2395G>A (p.Glu799Lys) | ||
| TSHB | c.94G>T (p.Glu32Ter) | |
| c.145G>A (p.Gly49Arg) | ||
| c.205C>T (p.Gln69Ter) | ||
| TSHR | c.1400T>C (p.Leu467Pro) | |
| c.1798T>C (p.Cys600Arg) | ||
| c.1291G>A (p.Gly431Ser) | ||
| c.928C>T (p.Arg310Cys) | ||
| c.1430C>T (p.Thr477Ile) | ||
| c.1915C>T (p.Pro639Ser) | ||
| c.548A>G (p.Lys183Arg) | ||
| c.842G>A (p.Ser281Asn) | ||
| c.1514G>A (p.Ser505Asn) | ||
| c.2015G>A (p.Cys672Tyr) | ||
| c.1657G>A (p.Ala553Thr) | ||
| c.1575C>A (p.Phe525Leu) | ||
| c.1228G>A (p.Asp410Asn) | ||
| c.970C>T (p.Gln324Ter) | ||
| c.326G>A (p.Arg109Gln) | ||
| c.1897G>C (p.Asp633His) | ||
| c.1358T>C (p.Met453Thr) | ||
| c.500T>A (p.Ile167Asn) | ||
| c.1887G>T (p.Leu629Phe) | ||
| c.1526T>C (p.Val509Ala) | ||
| c.1170T>G (p.Cys390Trp) | ||
| c.122G>C (p.Cys41Ser) | ||
| c.1637G>A (p.Trp546Ter) | ||
| c.484C>G (p.Pro162Ala) | ||
| c.1891T>C (p.Phe631Leu) | ||
| Cystic fibrosis | CFTR | c.1558G>A (p.Val520Ile) |
| c.3808G>A (p.Asp1270Asn) | ||
| c.2909G>A (p.Gly970Asp) | ||
| c.350G>A (p.Arg117His) | ||
| c.2374C>G (p.Arg792Gly) | ||
| c.1865G>A (p.Gly622Asp) | ||
| c.2813T>G (p.Val938Gly) | ||
| H1282* | ||
| A445E | ||
| Q524H | ||
| c.2453delT (p.Leu818Trpfs) | ||
| c.997C>T (p.Leu333Phe) | ||
| c.846A>T (p.Glu282Asp) | ||
| c.592G>A (p.Ala198Thr) | ||
| c.4280T>C (p.Ile1427Thr) | ||
| c.4242+2T>C | ||
| c.3997G>T (p.Gly1333Trp) | ||
| c.380_382dupTAT (p.Leu127_Cys128delinsLeuLeuCys) | ||
| c.370G>C (p.Gly124Arg) | ||
| c.355A>G (p.Ile119Val) | ||
| c.3038C>A (p.Pro1013His) | ||
| c.114C>G (p.Tyr38Ter) | ||
| c.3302T>A (p.Met1101Lys) | ||
| c.650A>G (p.Glu217Gly) | ||
| c.2421_2422dupAT (p.Ile807_Tyr808delinsIleTyrIlefs) | ||
| c.3659C>T (p.Thr1220Ile) | ||
| c.2146A>T (p.Lys716Ter) | ||
| c.3184_3188dupCTATG (p.Leu1062_Trp1063delinsLeuCysTyrGlyfs) | ||
| c.1666A>G (p.Ile556Val) | ||
| c.3492dupT (p.Phe1164delinsPheTerfs) | ||
| c.3535_3536insTCAA (p.Thr1179delinsIleAsnGlnfs) | ||
| c.3878_3881delTATT (p.Val1293_Phe1294delinsValfs) | ||
| c.988G>T (p.Gly330Ter) | ||
| c.658C>T (p.Gln220Ter) | ||
| c.613C>T (p.Pro205Ser) | ||
| c.595C>T (p.His199Tyr) | ||
| c.580-1G>T | ||
| c.579+5G>A | ||
| c.579+3A>G | ||
| c.532G>A (p.Gly178Arg) | ||
| c.531delT (p.Ile177Metfs) | ||
| c.442delA (p.Ile148Leufs) | ||
| c.4251delA (p.Glu1418Argfs) | ||
| c.4077_4080delTGTTinsAA (p.Val1360Thrfs) | ||
| c.3884_3885insT (p.Ile1295delinsIlePhefs) | ||
| c.3731G>A (p.Gly1244Glu) | ||
| c.366T>A (p.Tyr122Ter) | ||
| c.3612G>A (p.Trp1204Ter) | ||
| c.3587C>G (p.Ser1196Ter) | ||
| c.349C>T (p.Arg117Cys) | ||
| c.3310G>T (p.Glu1104Ter) | ||
| c.3276C>A (p.Tyr1092Ter) | ||
| c.325_327delTATinsG (p.Tyr109Glyfs) | ||
| c.3230T>C (p.Leu1077Pro) | ||
| c.2989-1G>A | ||
| c.292C>T (p.Gln98Ter) | ||
| c.2908G>C (p.Gly970Arg) | ||
| c.2875delG (p.Ala959Hisfs) | ||
| c.2834C>T (p.Ser945Leu) | ||
| c.2780T>C (p.Leu927Pro) | ||
| c.274-1G>A | ||
| c.273+1G>A | ||
| c.2583delT (p.Phe861Leufs) | ||
| c.2537G>A (p.Trp846Ter) | ||
| c.2491G>T (p.Glu831Ter) | ||
| c.2464G>T (p.Glu822Ter) | ||
| c.2290C>T (p.Arg764Ter) | ||
| c.223C>T (p.Arg75Ter) | ||
| c.2215delG (p.Val739Tyrfs) | ||
| c.2195T>G (p.Leu732Ter) | ||
| c.2125C>T (p.Arg709Ter) | ||
| c.200C>T (p.Pro67Leu) | ||
| c.1A>G (p.Met1Val) | ||
| c.178G>T (p.Glu60Ter) | ||
| c.1766+3A>G | ||
| c.1753G>T (p.Glu585Ter) | ||
| c.1680-1G>A | ||
| c.1647T>G (p.Ser549Arg) | ||
| c.1466C>A (p.Ser489Ter) | ||
| c.1397C>A (p.Ser466Ter) | ||
| c.1393-1G>A | ||
| c.1329_1330insAGAT (p.Ile444delinsArgTyrTerfs) | ||
| c.1209+1G>A | ||
| c.1203G>A (p.Trp401Ter) | ||
| c.1202G>A (p.Trp401Ter) | ||
| c.115C>T (p.Gln39Ter) | ||
| c.1127_1128insA (p.Gln378Alafs) | ||
| c.1116+1G>A | ||
| c.1022_1023insTC (p.Phe342Hisfs) | ||
| c.1021T>C (p.Ser341Pro) | ||
| c.1007T>A (p.Ile336Lys) | ||
| c.3773dupT (p.Leu1258Phefs*7) | ||
| c.1645A>C (p.Ser549Arg) | ||
| c.860dupA (p.Asn287delinsLysLeufs) | ||
| c.-102A= | ||
| c.2810dupT (p.Leu937delinsLeuGlyfs) | ||
| c.3957_3958insAGGG (p.Ala1319_Asp1320delinsAlaArgGlyTerfs) | ||
| c.3893G>C (p.Gly1298Ala) | ||
| c.2932A>T (p.Lys978Ter) | ||
| c.1692delA (p.Lys564Lys=fs) | ||
| c.1682C>A (p.Ala561Glu) | ||
| c.19G>T (p.Glu7Ter) | ||
| c.1438G>T (p.Gly480Cys) | ||
| c.4056G>C (p.Gln1352His) | ||
| c.3161delA (p.His1054Leufs) | ||
| c.1477_1478delCA (p.Gln493Valfs) | ||
| c.3746G>A (p.Gly1249Glu) | ||
| c.3212A>C (p.Gln1071Pro) | ||
| c.805_806delAT (p.Ile269Profs) | ||
| c.326A>G (p.Tyr109Cys) | ||
| c.3857T>C (p.Phe1286Ser) | ||
| c.1046C>T (p.Ala349Val) | ||
| c.3848G>T (p.Arg1283Met) | ||
| c.933C>G (p.Phe311Leu) | ||
| c.3717+4A>G | ||
| c.3764C>A (p.Ser1255Ter) | ||
| c.1721C>A (p.Pro574His) | ||
| c.1646G>T (p.Ser549Ile) | ||
| c.1687T>A (p.Tyr563Asn) | ||
| c.3907A>C (p.Asn1303His) | ||
| c.3700A>G (p.Ile1234Val) | ||
| c.3254A>G (p.His1085Arg) | ||
| c.2845C>T (p.His949Tyr) | ||
| c.1943A>T (p.Asp648Val) | ||
| c.3763T>C (p.Ser1255Pro) | ||
| c.271G>A (p.Gly91Arg) | ||
| c.171G>A (p.Trp57Ter) | ||
| c.3712C>T (p.Gln1238Ter) | ||
| c.1601C>A (p.Ala534Glu) | ||
| c.1040G>T (p.Arg347Leu) | ||
| c.3199G>A (p.Ala1067Thr) | ||
| c.2479G>T (p.Glu827Ter) | ||
| c.3873G>C (p.Gln1291His) | ||
| c.1572C>A (p.Cys524Ter) | ||
| c.2737_2738insG (p.Tyr913delinsTerLeufs) | ||
| c.1651G>A (p.Gly551Ser) | ||
| c.3947G>A (p.Trp1316Ter) | ||
| c.1373G>T (p.Gly458Val) | ||
| c.2738A>G (p.Tyr913Cys) | ||
| c.3717+5G>A | ||
| c.1817_1900del84 (p.Lys606_Gln634?) | ||
| c.1021_1022dupTC (p.Ser341delinsSerHisfs) | ||
| c.3469-20T>C | ||
| c.1658G>A (p.Arg553Gln) | ||
| c.2291delG (p.Arg764Glnfs) | ||
| c.1083delG (p.Trp361Cysfs) | ||
| c.429delT (p.Phe143Leufs) | ||
| c.424delA (p.Ile142Phefs) | ||
| c.2052delA (p.Lys684Asnfs) | ||
| c.273+4A>G | ||
| c.3767dupC (p.Leu1258Phefs*7) | ||
| c.3718-1G>A | ||
| c.1093_1094delCT (p.Leu365Trpfs) | ||
| c.2768C>A (p.Ala923Asp) | ||
| c.853A>T (p.Ile285Phe) | ||
| c.825C>G (p.Tyr275Ter) | ||
| c.274G>T (p.Glu92Ter) | ||
| c.262_263delTT (p.Leu88Ilefs) | ||
| c.3194T>C (p.Leu1065Pro) | ||
| c.2175_2176insA (p.Glu725_Glu726delinsGluArgGlyfs) | ||
| c.3472C>T (p.Arg1158Ter) | ||
| c.1675G>A (p.Ala559Thr) | ||
| c.1646G>A (p.Ser549Asn) | ||
| c.1477C>T (p.Gln493Ter) | ||
| c.3276C>G (p.Tyr1092Ter) | ||
| c.1400T>C (p.Leu467Pro) | ||
| c.3744delA (p.Ser1248Ser=fs) | ||
| c.3752G>A (p.Ser1251Asn) | ||
| c.2668C>T (p.Gln890Ter) | ||
| c.2128A>T (p.Lys710Ter) | ||
| c.1654C>T (p.Gln552Ter) | ||
| c.1055G>A (p.Arg352Gln) | ||
| c.1013C>T (p.Thr338Ile) | ||
| c.274G>A (p.Glu92Lys) | ||
| c.3937C>T (p.Gln1313Ter) | ||
| c.3196C>T (p.Arg1066Cys) | ||
| c.3197G>A (p.Arg1066His) | ||
| c.1475C>T (p.Ser492Phe) | ||
| c.1558G>T (p.Val520Phe) | ||
| c.2551C>T (p.Arg851Ter) | ||
| c.1545_1546delTA (p.Tyr515_Arg516delinsTerIlefs) | ||
| c.2538G>A (p.Trp846Ter) | ||
| c.3209G>A (p.Arg1070Gln) | ||
| c.2989-2A>T | ||
| c.3705T>G (p.Ser1235Arg) | ||
| c.3080T>C (p.Ile1027Thr) | ||
| c.720_741del (p.Leu240_Tyr247delinsLeufs) | ||
| c.328G>C (p.Asp110His) | ||
| c.579+1G>T | ||
| c.489+1G>T | ||
| c.2657+5G>A | ||
| c.3611G>A (p.Trp1204Ter) | ||
| c.2490+1G>A | ||
| c.948delT (p.Phe316Leufs) | ||
| c.3873+1G>A | ||
| c.1679G>A (p.Arg560Lys) | ||
| c.1081delT (p.Trp361Glyfs) | ||
| c.1731C>T (p.Tyr577Tyr=) | ||
| c.3154T>G (p.Phe1052Val) | ||
| c.459_476del (p.Ile154_Leu159del) | ||
| c.3659delC (p.Thr1220Lysfs) | ||
| c.958T>G (p.Leu320Val) | ||
| c.3691delT (p.Ser1231Profs) | ||
| c.617T>G (p.Leu206Trp) | ||
| c.1521_1523delCTT (p.Phe508delPhe) | ||
| c.1679G>C (p.Arg560Thr) | ||
| c.1364C>A (p.Ala455Glu) | ||
| c.1397C>G (p.Ser466Ter) | ||
| c.1585-8G>A | ||
| c.1040G>C (p.Arg347Pro) | ||
| c.3717+12191C>T | ||
| c.3484C>T (p.Arg1162Ter) | ||
| c.1766+1G>A | ||
| c.254G>A (p.Gly85Glu) | ||
| c.3909C>G (p.Asn1303Lys) | ||
| c.1585-1G>A | ||
| c.1000C>T (p.Arg334Trp) | ||
| NM_000492.3:c.1210-12_1210-6T[5] | ||
| c.1075C>A (p.Gln359Lys) | ||
| c.1519_1521delATC (p.Ile507del) | ||
| c.2988G>A (p.Gln996Gln=) | ||
| c.3095A>G (p.Tyr1032Cys) | ||
| c.2735C>T (p.Ser912Leu) | ||
| c.3846G>A (p.Trp1282Ter) | ||
| c.1647T>G (p.Ser549Arg) | ||
| c.1210-12_1210-6T | ||
| c.350G>A (p.Arg117His) | ||
| c.1054C>T (p.Arg352Trp) | ||
| c.1367T>C (p.Val456Ala) | ||
| c.4056G>T (p.Gln1352His) | ||
| c.1657C>T (p.Arg553Ter) | ||
| c.1624G>T (p.Gly542Ter) | ||
| c.2988+1G>A | ||
| c.2597G>A (p.Cys866Tyr) | ||
| c.2012delT (p.Leu671Terfs) | ||
| c.3454G>C (p.Asp1152His) | ||
| c.125C>T (p.Ser42Phe) | ||
| c.273+3A>C | ||
| NM_000492.3:c.3964-78_4242+577del | ||
| 1811+1.6kbA->G | ||
| c.1911delG (p.Gln637Hisfs) | ||
| c.14C>T (p.Pro5Leu) | ||
| c.1666A>G (p.Ile556Val) | ||
| c.1673T>C (p.Leu558Ser) | ||
| c.1521_1523delCTT (p.Phe508delPhe) | ||
| c.3266G>A (p.Trp1089Ter) | ||
| c.2051_2052delAAinsG (p.Lys684Serfs) | ||
| c.1040G>A (p.Arg347His) | ||
| c.3528delC (p.Thr1176Thr=fs) | ||
| c.4046G>A (p.Gly1349Asp) | ||
| c.1727G>C (p.Gly576Ala) | ||
| c.2052dupA (p.Gln685Thrfs*4) | ||
| c.3140-26A>G | ||
| c.1040G>A (p.Arg347His) | ||
| c.1652G>A (p.Gly551Asp) | ||
| De lange s. | NIPBL | c.7806_7807insT (p.Asn2603Terfs) |
| c.7789delC (p.Leu2597Cysfs) | ||
| c.7327C>T (p.Gln2443Ter) | ||
| c.7301A>G (p.Asn2434Ser) | ||
| c.6892C>G (p.Arg2298Gly) | ||
| c.6641_6647delATCTATA (p.Asn2214Ilefs) | ||
| c.6631G>T (p.Glu2211Ter) | ||
| c.585C>G (p.Tyr195Ter) | ||
| c.5566A>G (p.Arg1856Gly) | ||
| c.5456G>A (p.Arg1819Gln) | ||
| c.5440C>T (p.Arg1814Ter) | ||
| c.5366G>A (p.Arg1789Gln) | ||
| c.4806_4807delGA (p.Glu1602Aspfs) | ||
| c.4511T>A (p.Leu1504Ter) | ||
| c.4285_4294delGAACTACAGT (p.Glu1429Cysfs) | ||
| c.3445C>T (p.Arg1149Ter) | ||
| c.2592T>A (p.Asp864Glu) | ||
| c.192delG (p.Gln64Hisfs) | ||
| c.1445_1448delGAGA (p.Arg482Asnfs) | ||
| c.133C>T (p.Arg45Ter) | ||
| c.4606C>T (p.Arg1536Ter) | ||
| c.3616_3618delATA (p.Ile1206delIle) | ||
| c.7289A>G (p.Tyr2430Cys) | ||
| c.2T>A (p.Met1Lys) | ||
| c.3737C>G (p.Ala1246Gly) | ||
| c.5167C>T (p.Arg1723Ter) | ||
| SMC3 | CTAAA^487AGAGAagaTCTTGAAAAG | |
| Early-onset primary dystonia | TOR1A | c.613T>A (p.Phe205Ile) |
| c.966_983del18 (p.Val322_Tyr328delinsVal) | ||
| c.934_937delAGAG (p.Arg312_Val313delinsPhefs) | ||
| c.646G>C (p.Asp216His) | ||
| c.646G>C (p.Asp216His) | ||
| c.966_983del18 (p.Val322_Tyr328delinsVal) | ||
| c.904_906delGAG (p.Glu302del) | ||
| Ellissocitosi ereditaria TIPO 1 | EPB41 | c.2T>C (p.Met1Thr) |
| c.2T>G (p.Met1Arg) | ||
| Dystrophinopathies | DMD | v. NEUROMUSCULAR |
| Ehlers-Danlos syndrome | ADAMTS2 | c.2384G>A (p.Trp795Ter) |
| c.673C>T (p.Gln225Ter) | ||
| COL1A1 | c.934C>T (p.Arg312Cys) | |
| c.572G>A (p.Gly191Asp) | ||
| COL1A2 | c.3601G>T (p.Glu1201Ter) | |
| c.226-1G>C | ||
| COL3A1 | G297R | |
| G373R | ||
| c.1347+1G>A | ||
| c.2356G>A (p.Gly786Arg) | ||
| c.2410G>A (p.Gly804Ser) | ||
| c.1773dupT (p.Lys592Ter) | ||
| c.2914G>A (p.Gly972Ser) | ||
| c.1762-2A>G (p.Gly588_Gln605del) | ||
| c.1347+5G>C (p.Arg449_Gly450insValSerPheThrAlaThrAspLeu+) | ||
| c.3410G>A (p.Gly1137Asp) | ||
| c.582+5G>T (p.Gly177_Pro194del) | ||
| c.4286_4287delTT (p.Phe1429Terfs) | ||
| c.2022G>T (p.Lys674Asn) | ||
| c.799G>A (p.Gly267Ser) | ||
| c.2573G>T (p.Gly858Val) | ||
| c.3482G>A (p.Gly1161Glu) | ||
| c.2735G>A (p.Gly912Asp) | ||
| c.1869+5G>T (p.Gly606_Thr623del) | ||
| c.3472G>C (p.Gly1158Arg) | ||
| c.539G>A (p.Gly180Asp) | ||
| c.2553+3A>T (p.Gly816_Ala851del) | ||
| c.3575_3576insAGGG (p.Pro1193Glyfs) | ||
| c.3417+1G>T (p.Gly1122_Arg1139del+) | ||
| c.2553+1G>C (p.Gly816_Ala851del) | ||
| c.610G>A (p.Gly204Ser) | ||
| c.575G>T (p.Gly192Val) | ||
| c.3212G>T (p.Gly1071Val) | ||
| c.2023-1G>A (p.Gly675Valfs*116) | ||
| c.413delC (p.Pro138Leufs) | ||
| c.1347+1G>T (p.Arg449_Gly450insValSerPheThrAlaThrAspLeu+) | ||
| c.2815G>A (p.Gly939Ser) | ||
| c.2096G>A (p.Gly699Asp) | ||
| c.754G>C (p.Gly252Arg) | ||
| c.674G>C (p.Gly225Ala) | ||
| c.1456-13_1499del (p.Gly486_Lys503del) | ||
| c.3103G>T (p.Gly1035Cys) | ||
| c.3572G>A (p.Gly1191Asp) | ||
| c.3490G>C (p.Gly1164Arg) | ||
| c.1610delG (p.Gly537Alafs) | ||
| c.1456-10T>G (p.Arg485_Gly486insTyrPheGln) | ||
| c.1978-6_1981del (p.Gly660_Lys662del) | ||
| c.3499G>T (p.Gly1167Cys) | ||
| c.1923+1G>C (p.Gly624_Gln641del) | ||
| c.1970G>A (p.Gly657Glu) | ||
| c.2177G>A (p.Gly726Glu) | ||
| c.2231G>T (p.Gly744Val) | ||
| c.1096G>A (p.Gly366Arg) | ||
| c.2131G>A (p.Gly711Ser) | ||
| c.2284G>C (p.Gly762Arg) | ||
| c.1556G>A (p.Gly519Glu) | ||
| c.1258G>A (p.Gly420Ser) | ||
| c.1763G>A (p.Gly588Asp) | ||
| c.2554G>T (p.Gly852Cys) | ||
| c.2402G>A (p.Gly801Asp) | ||
| c.636+5G>A (p.Gly195_Ser212del) | ||
| c.997-1G>C (p.Gly333_Lys350del+) | ||
| c.2870G>T (p.Gly957Val) | ||
| c.1105_1107delGGA (p.Gly369del) | ||
| c.2221G>A (p.Gly741Ser) | ||
| c.2553+2T>C (p.Gly816_Ala851del) | ||
| c.1861G>C (p.Gly621Arg) | ||
| c.3544G>A (p.Gly1182Arg) | ||
| c.3202-2A>G (p.Gly1068_Pro1085del) | ||
| c.631_636+6delinsTACTAAATATA (p.Gly195_Ser212del) | ||
| c.2186G>A (p.Gly729Glu) | ||
| c.1646G>A (p.Gly549Glu) | ||
| c.2141G>A (p.Gly714Glu) | ||
| c.30G>A (p.Trp10Ter) | ||
| c.1988G>T (p.Gly663Val) | ||
| c.636+1G>A (p.Gly195_Ser212del) | ||
| c.2121+1G>C (p.Gly675_Lys707del) | ||
| c.2860G>A (p.Gly954Arg) | ||
| c.998G>A (p.Gly333Asp) | ||
| c.3266G>A (p.Gly1089Asp) | ||
| c.728G>A (p.Gly243Glu) | ||
| c.3325C>T (p.Arg1109Ter) | ||
| c.764G>A (p.Gly255Glu) | ||
| c.582+5G>A (p.Gly177_Pro194del) | ||
| c.1870-2A>G (p.Gly624_Gln641del) | ||
| c.997-10A>G (p.Pro332_Gly333insFFQ) | ||
| c.3418-2A>G (p.Arg1139_Gly1140insVSSTERYYRSTCFRCLHFRKIFWHCDVMILSW) | ||
| c.3527_3528delGCinsAA (p.Gly1176Glu) | ||
| c.3093+2T>G (p.Gly1014_Lys1031del) | ||
| c.1915G>A (p.Gly639Arg) | ||
| c.2095G>C (p.Gly699Arg) | ||
| c.3256-43T>G (p.Pro1085_Gly1086insVCVYMTSIQNMFLK) | ||
| c.3275G>T (p.Gly1092Val) | ||
| c.1410delT (p.Gly471Glufs) | ||
| c.2553+1G>A (p.Gly816_Ala851del) | ||
| c.2887G>C (p.Gly963Arg) | ||
| c.2337+1G>A (p.Gly762_Lys779del) | ||
| c.2607+5G>A (p.Gly852_Pro869del) | ||
| c.2753G>A (p.Gly918Glu) | ||
| c.1925G>T (p.Gly642Val) | ||
| c.690+1G>A (p.Gly213_Asp230del) | ||
| c.3023G>A (p.Gly1008Asp) | ||
| c.3490G>A (p.Gly1164Arg) | ||
| c.3863A>T (p.Asp1288Val) | ||
| c.2142_2168del27 (p.Pro715_Gly723del) | ||
| c.701G>A (p.Gly234Asp) | ||
| c.955_974del20insTTTACATCGAGGGTTTTAAAGTTTACA (p.Ala319Phefs) | ||
| c.2870G>A (p.Gly957Asp) | ||
| c.2534dupC (p.Gly846Trpfs) | ||
| c.2123G>T (p.Gly708Val) | ||
| c.665G>A (p.Gly222Asp) | ||
| c.583G>C (p.Gly195Arg) | ||
| c.951+1G>A (p.Gly300_Ala317del) | ||
| c.962G>A (p.Gly321Asp) | ||
| c.3157G>C (p.Gly1053Arg) | ||
| c.970G>A (p.Gly324Ser) | ||
| c.996+2T>A (p.Gly318_Pro332del) | ||
| c.2995G>A (p.Gly999Ser) | ||
| c.3419G>A (p.Gly1140Glu) | ||
| c.548G>C (p.Gly183Ala) | ||
| c.3989delA (p.Glu1330Glyfs) | ||
| c.3496C>T (p.Arg1166Ter) | ||
| c.3545G>A (p.Gly1182Glu) | ||
| c.2636G>T (p.Gly879Val) | ||
| c.827G>A (p.Gly276Asp) | ||
| c.2285G>A (p.Gly762Asp) | ||
| c.2022G>A (p.Lys674=) | ||
| c.3518G>T (p.Gly1173Val) | ||
| c.2501G>A (p.Gly834Asp) | ||
| c.593G>A (p.Gly198Glu) | ||
| c.2887G>T (p.Gly963Cys) | ||
| c.3356G>A (p.Gly1119Asp) | ||
| c.2176G>A (p.Gly726Arg) | ||
| c.1249G>A (p.Gly417Arg) | ||
| c.2445+5G>A (p.Gly798_Pro815del) | ||
| c.782G>A (p.Gly261Asp) | ||
| c.1844G>A (p.Gly615Glu) | ||
| c.1384G>A (p.Gly462Ser) | ||
| c.926G>A (p.Gly309Glu) | ||
| c.1511G>T (p.Gly504Val) | ||
| c.2105G>T (p.Gly702Val) | ||
| c.1267G>A (p.Gly423Ser) | ||
| c.656G>A (p.Gly219Asp) | ||
| c.2293G>A (p.Gly765Ser) | ||
| c.1149+1G>T (p.Gly351_Pro383del) | ||
| c.728G>T (p.Gly243Val) | ||
| c.2212G>T (p.Gly738Cys) | ||
| c.3545G>T (p.Gly1182Val) | ||
| c.615_629dupACCTGGGCAAGCTGG (p.Pro211_Ser212insGlyGlnAlaGlyPro) | ||
| c.3536G>T (p.Gly1179Val) | ||
| c.611G>A (p.Gly204Asp) | ||
| c.1761+2T>G (p.Gly555_Asp587del) | ||
| c.709G>A (p.Gly237Arg) | ||
| c.655G>T (p.Gly219Cys) | ||
| c.2113G>A (p.Gly705Arg) | ||
| c.2645G>A (p.Gly882Asp) | ||
| c.1862G>A (p.Gly621Glu) | ||
| c.1358G>A (p.Gly453Asp) | ||
| c.1961G>A (p.Gly654Glu) | ||
| c.3176G>T (p.Gly1059Val) | ||
| c.1475G>T (p.Gly492Val) | ||
| c.4399T>C (p.Ter1467Gln) | ||
| c.2824-1G>A (p.Gly942Glufs*294) | ||
| c.1861G>T (p.Gly621Trp) | ||
| c.2213G>T (p.Gly738Val) | ||
| c.3293G>T (p.Gly1098Val) | ||
| c.1816G>C (p.Gly606Arg) | ||
| c.1150-1_1166delinsCCGTCCTGGGCCCTGGTGGTATACAAACCTGGTATACCACC (p.Gly384_Met398del) | ||
| c.1898G>A (p.Gly633Glu) | ||
| c.1330G>C (p.Gly444Arg) | ||
| c.3284G>A (p.Gly1095Asp) | ||
| c.3499G>C (p.Gly1167Arg) | ||
| c.2915G>C (p.Gly972Ala) | ||
| c.976C>T (p.Arg326Ter) | ||
| c.2194G>A (p.Gly732Arg) | ||
| c.764G>T (p.Gly255Val) | ||
| c.1662+1G>C (p.Gly537_Pro554del) | ||
| c.791G>A (p.Gly264Glu) | ||
| c.1977+2T>G (p.Gly642_Pro659del) | ||
| c.997-2A>G (p.Gly333_Lys350del+) | ||
| c.2770G>A (p.Gly924Ser) | ||
| c.592G>A (p.Gly198Arg) | ||
| c.1869+1G>C (p.Gly606_Thr623del) | ||
| c.2699G>A (p.Gly900Asp) | ||
| c.951+4A>T (p.Gly300_Ala317del) | ||
| c.2024G>T (p.Gly675Val) | ||
| c.647G>A (p.Gly216Glu) | ||
| c.2933G>A (p.Gly978Asp) | ||
| c.1808delG (p.Gly603Alafs) | ||
| c.836G>A (p.Gly279Asp) | ||
| c.620G>T (p.Gly207Val) | ||
| c.2087G>A (p.Gly696Asp) | ||
| c.2655_2661+7delinsGACCTGAGAC (p.Ser886Thrfs*2) | ||
| c.2681G>C (p.Gly894Ala) | ||
| c.962G>T (p.Gly321Val) | ||
| c.2051G>T (p.Gly684Val) | ||
| c.1268G>A (p.Gly423Asp) | ||
| c.4294C>T (p.Arg1432Ter) | ||
| c.1618G>A (p.Gly540Arg) | ||
| c.2959G>A (p.Gly987Ser) | ||
| c.746G>T (p.Gly249Val) | ||
| c.3104G>T (p.Gly1035Val) | ||
| c.1194+1G>A (p.Gly384_Met398del) | ||
| c.2168G>A (p.Gly723Asp) | ||
| c.2905G>A (p.Gly969Arg) | ||
| c.1068_1069insGACCCTGCA (p.Ala356_Gly357insAspProAla) | ||
| c.3500G>T (p.Gly1167Val) | ||
| c.2059G>C (p.Gly687Arg) | ||
| c.2987G>A (p.Gly996Glu) | ||
| c.1870-2A>T (p.Gly624_Gln641del) | ||
| c.3535G>C (p.Gly1179Arg) | ||
| c.1923+1G>A (p.Gly624_Gln641del) | ||
| c.2445+2dupT (p.Gly798_Pro815del) | ||
| c.2897G>T (p.Gly966Val) | ||
| c.737G>A (p.Gly246Glu) | ||
| c.1124G>A (p.Gly375Glu) | ||
| c.3039+5G>A (p.Asp1013_Gly1014insVNSSFYSTSQ) | ||
| c.2833G>A (p.Gly945Ser) | ||
| c.2806G>C (p.Gly936Arg) | ||
| c.4254G>A (p.Thr1418=) | ||
| c.2357G>T (p.Gly786Val) | ||
| c.3193G>A (p.Gly1065Arg) | ||
| c.3418-1G>T (p.Arg1139_Gly1140insVSSTERYYRSTCFRCLHFRKIFWHCDVMILSY) | ||
| c.2771G>T (p.Gly924Val) | ||
| c.2356G>A (p.Gly786Arg) | ||
| c.1662+1G>A (p.Gly537_Pro554del) | ||
| c.690+2T>A (p.Gly213_Asp230del) | ||
| c.3319G>A (p.Gly1107Arg) | ||
| c.2122_2148del27 (p.Pro712_Gly720del) | ||
| c.2915G>A (p.Gly972Asp) | ||
| c.755G>A (p.Gly252Asp) | ||
| c.2284-2A>G (p.Gly762_Lys779del) | ||
| c.637G>A (p.Gly213Ser) | ||
| c.898-1G>C (p.Gly300_Ala317del) | ||
| c.582+6T>A (p.Gly177_Pro194del) | ||
| c.683G>A (p.Gly228Glu) | ||
| c.3220G>A (p.Gly1074Ser) | ||
| c.3490G>T (p.Gly1164Trp) | ||
| c.3032G>A (p.Gly1011Glu) | ||
| c.3203G>T (p.Gly1068Val) | ||
| c.2815G>T (p.Gly939Cys) | ||
| c.2150G>A (p.Gly717Asp) | ||
| c.2995G>C (p.Gly999Arg) | ||
| c.1115G>T (p.Gly372Val) | ||
| c.3364-2A>C (p.Gly1122_Arg1139del) | ||
| c.3140G>A (p.Gly1047Asp) | ||
| c.1142G>A (p.Gly381Asp) | ||
| c.2185G>A (p.Gly729Arg) | ||
| c.2924G>T (p.Gly975Val) | ||
| c.2285G>T (p.Gly762Val) | ||
| c.3167G>A (p.Gly1056Asp) | ||
| c.1862G>T (p.Gly621Val) | ||
| c.951+6T>A (p.Gly300_Ala317del) | ||
| c.1149+5G>A (p.Gly351_Pro383del) | ||
| c.1662+2dupT (p.Gly537_Pro554del) | ||
| c.3391G>A (p.Gly1131Ser) | ||
| c.1662+1G>T (p.Gly537_Pro554del) | ||
| c.1231G>C (p.Gly411Arg) | ||
| c.674G>T (p.Gly225Val) | ||
| c.3039+6T>C (p.Asp1013_Gly1014insVSSSFYSTSQ) | ||
| c.844G>A (p.Gly282Arg) | ||
| c.1808G>A (p.Gly603Asp) | ||
| c.1761+2T>C (p.Gly555_Asp587del) | ||
| c.3061_3063delCTT (p.Leu1021del) | ||
| c.2510G>A (p.Gly837Asp) | ||
| c.1099_1116del18 (p.Gln367_Gly372del) | ||
| c.582+2dupT (p.Gly177_Pro194del) | ||
| c.1501G>A (p.Gly501Arg) | ||
| c.1906G>C (p.Gly636Arg) | ||
| c.3517G>A (p.Gly1173Arg) | ||
| c.1150-1G>C (p.Gly384_Met398del) | ||
| c.2554-1G>A (p.Gly852Valfs*384) | ||
| c.665G>T (p.Gly222Val) | ||
| c.2825G>A (p.Gly942Glu) | ||
| c.996+1G>A (p.Gly318_Pro332del) | ||
| c.629G>T (p.Gly210Val) | ||
| c.2553+1delG (p.Gly816_Ala851del) | ||
| c.2337+2T>C (p.Gly762_Lys779del) | ||
| c.2105G>A (p.Gly702Asp) | ||
| c.2888G>A (p.Gly963Asp) | ||
| c.1761+5G>A (p.Gly555_Asp587del) | ||
| c.1763_1769delGTGCTCCinsTAAG (p.Gly588_Pro590delinsValSer) | ||
| c.3223_3240del18 (p.Ala1075_Gly1080del) | ||
| c.582+1G>C (p.Gly177_Pro194del) | ||
| c.565G>C (p.Gly189Arg) | ||
| c.3039+1G>A (p.Asp1013_Gly1014insMSSSFYSTSQ) | ||
| c.2708G>A (p.Gly903Glu) | ||
| c.3562G>A (p.Gly1188Arg) | ||
| c.3093+2T>C (p.Gly1014_Lys1031del) | ||
| c.3418-2A>T (p.Arg1139_Gly1140insVSSTERYYRSTCFRCLHFRKIFWHCDVMILSL) | ||
| c.3509G>T (p.Gly1170Val) | ||
| c.3255+5G>A (p.Gly1068_Pro1085del) | ||
| c.1475G>A (p.Gly492Glu) | ||
| c.1087G>A (p.Gly363Ser) | ||
| c.1052G>T (p.Gly351Val) | ||
| c.690+2T>G (p.Gly213_Asp230del) | ||
| c.1294-3T>G (p.Gly432_Arg449del) | ||
| c.3437G>A (p.Gly1146Glu) | ||
| c.547G>C (p.Gly183Arg) | ||
| c.2555G>A (p.Gly852Asp) | ||
| c.1979G>A (p.Gly660Asp) | ||
| c.2294G>T (p.Gly765Val) | ||
| c.3122G>T (p.Gly1041Val) | ||
| c.3966delG (p.Lys1323Argfs) | ||
| c.1330G>A (p.Gly444Arg) | ||
| c.2935G>T (p.Glu979Ter) | ||
| c.944G>C (p.Gly315Ala) | ||
| c.3554G>T (p.Gly1185Val) | ||
| c.2482G>T (p.Gly828Trp) | ||
| c.1240G>T (p.Gly414Cys) | ||
| c.2203G>A (p.Gly735Arg) | ||
| c.2726G>T (p.Gly909Val) | ||
| c.3508G>A (p.Gly1170Ser) | ||
| c.898G>C (p.Gly300Arg) | ||
| c.3255+1G>A (p.Gly1068_Pro1085del) | ||
| c.3070C>T (p.Arg1024Ter) | ||
| c.809G>A (p.Gly270Glu) | ||
| c.1808G>T (p.Gly603Val) | ||
| c.547G>T (p.Gly183Cys) | ||
| c.1466G>A (p.Gly489Glu) | ||
| c.1974_1977+4del (p.Gly642_Pro659del) | ||
| c.2068G>A (p.Gly690Arg) | ||
| c.3482G>T (p.Gly1161Val) | ||
| c.3473G>A (p.Gly1158Asp) | ||
| c.2770G>T (p.Gly924Cys) | ||
| c.3491G>T (p.Gly1164Val) | ||
| c.682G>C (p.Gly228Arg) | ||
| c.3239G>A (p.Gly1080Asp) | ||
| c.718G>C (p.Gly240Arg) | ||
| c.3847C>T (p.Gln1283Ter) | ||
| c.2869G>T (p.Gly957Cys) | ||
| c.2564G>A (p.Gly855Asp) | ||
| c.3509G>A (p.Gly1170Asp) | ||
| c.755G>T (p.Gly252Val) | ||
| c.798+1G>A (p.Phe268Leufs*10) | ||
| c.1831_1832delAA (p.Asn611Trpfs) | ||
| c.2337G>A (p.Lys779=) | ||
| c.2114G>A (p.Gly705Glu) | ||
| c.1194+1G>C (p.Gly384_Met398del) | ||
| c.2069G>T (p.Gly690Val) | ||
| c.2607+5G>T (p.Gly852_Pro869del) | ||
| c.2978G>A (p.Gly993Asp) | ||
| c.2941G>A (p.Gly981Arg) | ||
| c.766delA (p.Ile256Tyrfs) | ||
| c.1988G>A (p.Gly663Asp) | ||
| c.1347+3A>C (p.Arg449_Gly450insValSerPheThrAlaThrAspLeu+) | ||
| c.899G>A (p.Gly300Asp) | ||
| c.951+3G>T (p.Gly300_Ala317del) | ||
| c.555delT (p.Gly186Valfs) | ||
| c.951+2T>C (p.Gly300_Ala317del) | ||
| c.2771G>A (p.Gly924Asp) | ||
| c.2941G>C (p.Gly981Arg) | ||
| c.3417+5G>A (p.Gly1122_Arg1139del+) | ||
| c.2842G>A (p.Gly948Arg) | ||
| c.556G>A (p.Gly186Ser) | ||
| c.3347G>T (p.Gly1116Val) | ||
| c.3417+1G>A (p.Gly1122_Arg1139del+) | ||
| c.907G>A (p.Gly303Arg) | ||
| c.1149+1G>A (p.Gly351_Pro383del) | ||
| c.2078G>C (p.Gly693Ala) | ||
| c.656G>C (p.Gly219Ala) | ||
| c.899G>T (p.Gly300Val) | ||
| c.3301G>A (p.Gly1101Arg) | ||
| c.2824G>A (p.Gly942Arg) | ||
| c.2140G>A (p.Gly714Arg) | ||
| c.601G>C (p.Gly201Arg) | ||
| c.1915G>C (p.Gly639Arg) | ||
| c.2861G>A (p.Gly954Glu) | ||
| c.1987G>C (p.Gly663Arg) | ||
| c.2780G>A (p.Gly927Asp) | ||
| c.3491G>A (p.Gly1164Glu) | ||
| c.1189_1194+23del (p.Gly384_Met398del) | ||
| c.1744G>C (p.Gly582Arg) | ||
| c.2022+2T>C (p.Gly660_Lys674del) | ||
| c.3095G>T (p.Gly1032Val) | ||
| c.800G>T (p.Gly267Val) | ||
| c.951+2T>A (p.Gly300_Ala317del) | ||
| c.951_951+14del (p.Gly300_Ala317del) | ||
| c.2823+1G>A (p.Gly942Valfs*28) | ||
| c.951+6T>C (p.Gly300_Ala317del) | ||
| c.951+5G>A (p.Gly300_Ala317del) | ||
| c.1916G>A (p.Gly639Glu) | ||
| c.2222G>A (p.Gly741Asp) | ||
| c.548G>A (p.Gly183Asp) | ||
| c.1033G>A (p.Gly345Arg) | ||
| c.2276G>A (p.Gly759Asp) | ||
| c.2600G>A (p.Gly867Asp) | ||
| c.2977G>T (p.Gly993Cys) | ||
| c.1347+1G>A | ||
| c.3302G>A (p.Gly1101Glu) | ||
| c.3149G>A (p.Gly1050Asp) | ||
| c.2879G>T (p.Gly960Val) | ||
| c.1869+5G>A | ||
| c.582+6T>C | ||
| c.2553+5G>T | ||
| c.3149G>T (p.Gly1050Val) | ||
| c.547G>A (p.Gly183Ser) | ||
| c.2212G>A (p.Gly738Ser) | ||
| c.2490_2516del (p.Glu832_Pro839del) | ||
| c.1761+5G>T | ||
| c.1655G>A (p.Gly552Glu) | ||
| c.746G>A (p.Gly249Asp) | ||
| c.1744G>A (p.Gly582Ser) | ||
| c.406G>C (p.Gly136Arg) | ||
| c.3563G>A (p.Gly1188Glu) | ||
| c.3518G>A (p.Gly1173Glu) | ||
| c.3041G>A (p.Gly1014Glu) | ||
| c.3230G>T (p.Gly1077Val) | ||
| c.2437G>A (p.Gly813Ser) | ||
| c.1997G>A (p.Gly666Asp) | ||
| c.3554G>A (p.Gly1185Asp) | ||
| c.2931+1G>A | ||
| c.479dupT (p.Lys161Glnfs) | ||
| c.1786C>T (p.Arg596Ter) | ||
| c.3184C>T (p.Arg1062Ter) | ||
| COL5A1 | c.4916G>C (p.Cys1639Ser) | |
| c.1588G>A (p.Gly530Ser) | ||
| c.3184C>T (p.Arg1062Ter) | ||
| c.2374C>T (p.Arg792Ter) | ||
| c.4916G>C (p.Cys1639Ser) | ||
| c.4466G>A (p.Gly1489Glu) | ||
| COL5A2 | c.3445G>C (p.Gly1149Arg) | |
| PLOD1 | E532del | |
| c.2008C>T (p.Arg670Ter) | ||
| c.1836G>C (p.Trp612Cys) | ||
| c.1533C>G (p.Tyr511Ter) | ||
| c.2032G>A (p.Gly678Arg) | ||
| c.955C>T (p.Arg319Ter) | ||
| TNXB | c.3322G>A (p.Val1108Met) | |
| Ellis Van Creveld | EVC2 | Asp207Tyr |
| Gln249Term | ||
| Ile283Arg | ||
| Lys342Term | ||
| Arg399Term | ||
| Gln570Term | ||
| Gln610Term | ||
| Gln619Term | ||
| Arg677Term | ||
| Gln755Term | ||
| Glu789Term | ||
| Arg826Term | ||
| Arg874Term | ||
| Trp884Term | ||
| Glu900Term | ||
| Gln904Term | ||
| Arg950Trp | ||
| Ala1045Val | ||
| Gln1089Term | ||
| Glu1095Term | ||
| EVC1 | c.919T>C (p.Ser307Pro) | |
| c.1018C>T (p.Arg340Ter) | ||
| c.2635C>T (p.Gln879Ter) | ||
| c.3025C>T (p.Gln1009Ter) | ||
| c.608T>G (p.Ile203Arg) | ||
| c.1615C>T (p.Gln539Ter) | ||
| c.955C>T (p.Arg319Ter) | ||
| c.919T>C (p.Ser307Pro) | ||
| c.1328G>A (p.Arg443Gln) | ||
| c.735delT (p.Asp246Thrfs) | ||
| c.2608C>T (p.Arg870Trp) | ||
| c.3793delC (p.Leu1265Tyrfs) | ||
| Epidermolysis bullosa | KRT5 | c.1414A>T (p.Lys472Ter) |
| c.1429G>T (p.Glu477Ter) | ||
| c.1429G>A (p.Glu477Lys) | ||
| c.1252G>A (p.Glu418Lys) | ||
| c.556G>T (p.Val186Leu) | ||
| c.541T>C (p.Ser181Pro) | ||
| c.20T>C (p.Val7Ala) | ||
| c.523C>T (p.Leu175Phe) | ||
| c.579C>G (p.Asn193Lys) | ||
| c.519G>C (p.Lys173Asn) | ||
| c.987C>A (p.Asn329Lys) | ||
| c.1424A>G (p.Glu475Gly) | ||
| c.508G>A (p.Glu170Lys) | ||
| c.508G>A (p.Glu170Lys) | ||
| c.14C>A (p.Ser5Ter) | ||
| c.980T>C (p.Met327Thr) | ||
| c.1388T>C (p.Leu463Pro) | ||
| c.482T>G (p.Ile161Ser) | ||
| c.74C>T (p.Pro25Leu) | ||
| NC_000012.12:g.52515066delC | ||
| c.431A>C (p.Glu144Ala) | ||
| KRT14 | c.54C>A (p.Cys18Ter) | |
| c.1264G>A (p.Glu422Lys) | ||
| c.1256T>A (p.Leu419Gln) | ||
| c.1243T>C (p.Tyr415His) | ||
| c.815T>G (p.Met272Arg) | ||
| c.612T>A (p.Tyr204Ter) | ||
| c.357G>A (p.Met119Ile) | ||
| c.357G>A (p.Met119Ile) | ||
| c.431A>C (p.Glu144Ala) | ||
| c.1151T>C (p.Leu384Pro) | ||
| c.368A>G (p.Asn123Ser) | ||
| c.356T>C (p.Met119Thr) | ||
| c.374G>A (p.Arg125His) | ||
| c.373C>T (p.Arg125Cys) | ||
| COL7A1 | G2316R | |
| c.425A>G (p.Lys142Arg) | ||
| c.8479C>T (p.Gln2827Ter) | ||
| c.5443G>C (p.Gly1815Arg) | ||
| c.4783G>C (p.Gly1595Arg) | ||
| c.6205C>T (p.Arg2069Cys) | ||
| c.706C>T (p.Arg236Ter) | ||
| c.6218G>T (p.Gly2073Val) | ||
| c.4888C>T (p.Arg1630Ter) | ||
| c.5096C>T (p.Pro1699Leu) | ||
| c.4039G>C (p.Gly1347Arg) | ||
| c.7867G>T (p.Gly2623Cys) | ||
| c.6859G>A (p.Gly2287Arg) | ||
| c.6724G>A (p.Gly2242Arg) | ||
| c.6752G>A (p.Gly2251Glu) | ||
| c.6752G>A (p.Gly2251Glu) | ||
| c.4565G>A (p.Gly1522Glu) | ||
| c.6227G>A (p.Gly2076Asp) | ||
| c.6110G>A (p.Gly2037Glu) | ||
| c.6044G>A (p.Gly2015Glu) | ||
| c.6127G>A (p.Gly2043Arg) | ||
| c.4556G>A (p.Gly1519Asp) | ||
| c.706C>T (p.Arg236Ter) | ||
| c.8245G>A (p.Gly2749Arg) | ||
| c.7411C>T (p.Arg2471Ter) | ||
| c.7957G>A (p.Gly2653Arg) | ||
| c.6017G>A (p.Gly2006Asp) | ||
| c.6091G>A (p.Gly2031Ser) | ||
| c.5443G>C (p.Gly1815Arg) | ||
| c.4783G>C (p.Gly1595Arg) | ||
| c.6752G>A (p.Gly2251Glu) | ||
| c.6007G>A (p.Gly2003Arg) | ||
| c.933C>A (p.Tyr311Ter) | ||
| c.6118G>A (p.Gly2040Ser) | ||
| c.8393T>A (p.Met2798Lys) | ||
| c.6859G>A (p.Gly2287Arg) | ||
| c.6187C>T (p.Arg2063Trp) | ||
| c.6100G>A (p.Gly2034Arg) | ||
| PLEC | c.6955C>T (p.Arg2319Ter) | |
| c.6169C>T (p.Gln2057Ter) | ||
| c.9085C>T (p.Arg3029Ter) | ||
| c.913C>T (p.Gln305Ter) | ||
| c.5998C>T (p.Arg2000Trp) | ||
| Familial Mediterranean fever | MEFV | c.2040G>A (p.Met680Ile) |
| c.1432C>T (p.His478Tyr) | ||
| c.1318C>G (p.Gln440Glu) | ||
| c.2074_2076delATA (p.Ile692del) | ||
| c.941G>A (p.Arg314His) | ||
| c.1016C>T (p.Ser339Phe) | ||
| c.1958G>A (p.Arg653His) | ||
| c.2282G>A (p.Arg761His) | ||
| c.800C>T (p.Thr267Ile) | ||
| c.1437C>G (p.Phe479Leu) | ||
| c.501G>C (p.Glu167Asp) | ||
| c.2080A>G (p.Met694Val) | ||
| c.2082G>A (p.Met694Ile) | ||
| c.2084A>G (p.Lys695Arg) | ||
| c.2040G>C (p.Met680Ile) | ||
| c.2084A>G (p.Lys695Arg) | ||
| c.2082G>A (p.Met694Ile) | ||
| c.2177T>C (p.Val726Ala) | ||
| Fanconi anemia | FANCA | c.3788_3790del (p.Phe1263_Ser1264delinsSer) |
| c.513G>A (p.Trp171Ter) | ||
| c.1115_1118del (p.Val372_Gly373delinsAlafs) | ||
| FANCC | c.1487T>G (p.Leu496Arg) | |
| c.553C>T (p.Arg185Ter) | ||
| c.1642C>T (p.Arg548Ter) | ||
| c.37C>T (p.Gln13Ter) | ||
| c.67delG (p.Asp23Ilefs) | ||
| c.1661T>C (p.Leu554Pro) | ||
| c.456+4A>T | ||
| FANCG | c.1183_1192del (p.Glu395_Leu398delinsTrpfs) | |
| c.1066C>T (p.Gln356Ter) | ||
| c.313G>T (p.Glu105Ter) | ||
| c.1794_1803del (p.Ser598_Arg601delinsSerfs) | ||
| c.925-2A>G | ||
| c.307+1G>C | ||
| c.1480+1G>C | ||
| Myasthenic syndrome, congenital, fast-channel | CHRNA1 | c.761G>T (p.Arg254Leu) |
| c.529G>C (p.Val177Leu) | ||
| c.832T>G (p.Phe278Val) | ||
| c.988G>A (p.Val330Ile) | ||
| c.901T>C (p.Phe301Leu) | ||
| c.1389C>G (p.Cys463Trp) | ||
| c.880G>T (p.Val294Phe) | ||
| c.601G>A (p.Val201Met) | ||
| c.786C>G (p.Asn262Lys) | ||
| c.941G>T (p.Ser314Ile) | ||
| c.896C>T (p.Thr299Ile) | ||
| c.592G>A (p.Gly198Ser) | ||
| c.812C>A (p.Pro271Gln) | ||
| c.488C>T (p.Ser163Leu) | ||
| c.37G>A (p.Gly13Arg) | ||
| CHRNB1 | c.853C>A (p.Leu285Met) | |
| c.865G>A (p.Val289Met) | ||
| CHRND | c.188T>C (p.Leu63Pro) | |
| c.1390C>T (p.Arg464Ter) | ||
| c.283T>C (p.Phe95Leu) | ||
| c.234G>A (p.Trp78Ter) | ||
| c.238G>A (p.Glu80Lys) | ||
| c.236T>A (p.Ile79Lys) | ||
| c.812C>A (p.Pro271Gln) | ||
| c.866C>T (p.Ser289Phe) | ||
| RAPSN | c.484G>A (p.Glu162Lys) | |
| c.133G>A (p.Val45Met) | ||
| c.490C>T (p.Arg164Cys) | ||
| c.848T>C (p.Leu283Pro) | ||
| c.807C>A (p.Tyr269Ter) | ||
| c.41T>C (p.Leu14Pro) | ||
| c.264C>A (p.Asn88Lys | ||
| DOK7 | c.601C>T (p.Arg201Ter) | |
| c.539G>C (p.Gly180Ala) | ||
| Galactosemia | GALT | |
| c.904+1G>T | ||
| c.398_399dupCC (p.Pro133delinsProProfs) | ||
| c.220_221delCT (p.Leu74Valfs) | ||
| c.1132A>G (p.Ile378Val) | ||
| c.1108C>T (p.Gln370Ter) | ||
| c.1060-1G>A | ||
| c.1057C>T (p.Gln353Ter) | ||
| c.1051delC (p.Pro351Leufs) | ||
| c.1047delC (p.Leu349Leu=fs) | ||
| c.1034C>A (p.Ala345Asp) | ||
| c.1018G>A (p.Glu340Lys) | ||
| c.998G>T (p.Arg333Leu) | ||
| c.980T>C (p.Leu327Pro) | ||
| c.976delC (p.Leu326Serfs) | ||
| c.968A>G (p.Tyr323Cys) | ||
| c.948G>A (p.Trp316Ter) | ||
| c.904+5G>A | ||
| c.883C>A (p.Pro295Thr) | ||
| c.872A>T (p.Glu291Val) | ||
| c.854A>G (p.Lys285Arg) | ||
| c.836T>G (p.Met279Arg) | ||
| c.815G>A (p.Arg272His) | ||
| c.812A>G (p.Glu271Gly) | ||
| c.777G>A (p.Arg259=) | ||
| c.756G>T (p.Gln252His) | ||
| c.748C>A (p.Pro250Thr) | ||
| c.719_728delTAGTACTGGT (p.Leu240_Val243delinsSerfs) | ||
| c.691C>T (p.Arg231Cys) | ||
| c.680T>C (p.Leu227Pro) | ||
| c.676C>G (p.Leu226Val) | ||
| c.652C>G (p.Leu218Val) | ||
| c.635A>C (p.Gln212Pro) | ||
| c.565-2A>G | ||
| c.564+1G>A | ||
| c.556C>T (p.His186Tyr) | ||
| c.554C>T (p.Pro185Leu) | ||
| c.550C>G (p.His184Asp) | ||
| c.542C>T (p.Ser181Phe) | ||
| c.524G>A (p.Gly175Asp) | ||
| c.509T>C (p.Ile170Thr) | ||
| c.505C>A (p.Gln169Lys) | ||
| c.502G>T (p.Val168Leu) | ||
| c.496C>G (p.Pro166Ala) | ||
| c.490C>T (p.Gln164Ter) | ||
| c.482T>C (p.Leu161Pro) | ||
| c.462G>A (p.Trp154Ter) | ||
| c.460T>C (p.Trp154Arg) | ||
| c.396C>A (p.His132Gln) | ||
| c.392T>G (p.Phe131Cys) | ||
| c.308A>G (p.Gln103Arg) | ||
| c.292G>C (p.Asp98His) | ||
| c.285T>G (p.Phe95Leu) | ||
| c.265T>C (p.Tyr89His) | ||
| c.265T>G (p.Tyr89Asp) | ||
| c.247G>A (p.Gly83Arg) | ||
| c.207_214delCCCTCTCA (p.Asp69_Asn72delinsGluProfs) | ||
| c.197C>T (p.Pro66Leu) | ||
| c.160C>T (p.Gln54Ter) | ||
| c.107C>T (p.Pro36Leu) | ||
| c.100T>A (p.Tyr34Asn) | ||
| c.91C>A (p.His31Asn) | ||
| c.90G>C (p.Gln30His) | ||
| c.41delCinsTT (p.Ala14delinsValValfs) | ||
| c.1A>G (p.Met1Val) | ||
| c.959C>T (p.Ala320Val) | ||
| c.687+1G>T | ||
| c.385A>T (p.Met129Leu) | ||
| c.203A>C (p.His68Pro) | ||
| c.82G>A (p.Asp28Asn) | ||
| c.1140A>C (p.Ter380Cys) | ||
| c.1138T>C (p.Ter380Arg) | ||
| c.1098C>A (p.Tyr366Ter) | ||
| c.1072delC (p.Leu358Terfs) | ||
| c.1048A>G (p.Thr350Ala) | ||
| c.1024C>A (p.Leu342Ile) | ||
| c.1018G>T (p.Glu340Ter) | ||
| c.1006A>T (p.Met336Leu) | ||
| c.1001A>G (p.Lys334Arg) | ||
| c.998G>A (p.Arg333Gln) | ||
| c.989C>T (p.Ala330Val) | ||
| c.986C>T (p.Ser329Phe) | ||
| c.983G>A (p.Arg328His) | ||
| c.979delC (p.Leu327Cysfs) | ||
| c.970C>T (p.Pro324Ser) | ||
| c.967T>C (p.Tyr323His) | ||
| c.967T>G (p.Tyr323Asp) | ||
| c.961C>T (p.His321Tyr) | ||
| c.958G>A (p.Ala320Thr) | ||
| c.952delC (p.Leu318Cysfs) | ||
| c.951G>T (p.Gln317His) | ||
| c.950A>G (p.Gln317Arg) | ||
| c.949delC (p.Gln317Serfs) | ||
| c.922G>A (p.Glu308Lys) | ||
| c.920C>A (p.Ser307Ter) | ||
| c.882delT (p.Phe294Phe=fs) | ||
| c.881T>A (p.Phe294Tyr) | ||
| c.871G>A (p.Glu291Lys) | ||
| c.866T>G (p.Leu289Arg) | ||
| c.865C>T (p.Leu289Phe) | ||
| c.857A>G (p.Tyr286Cys) | ||
| c.844C>G (p.Leu282Val) | ||
| c.833T>A (p.Ile278Asn) | ||
| c.824delT (p.Leu275Glnfs) | ||
| c.821-2A>G | ||
| c.814C>G (p.Arg272Gly) | ||
| c.793C>G (p.Pro265Ala) | ||
| c.790_792delCTAinsTAG (p.Leu264Ter) | ||
| c.785G>C (p.Arg262Pro) | ||
| c.779_790del (p.His260_Arg263del) | ||
| c.770C>T (p.Pro257Leu) | ||
| c.768_770delGCC (p.Leu256_Pro257delinsLeu) | ||
| c.752A>G (p.Tyr251Cys) | ||
| c.747G>A (p.Trp249Ter) | ||
| c.745T>C (p.Trp249Arg) | ||
| c.697G>C (p.Val233Leu) | ||
| c.692G>A (p.Arg231His) | ||
| c.687+2T>C | ||
| c.687G>T (p.Lys229Asn) | ||
| c.677T>C (p.Leu226Pro) | ||
| c.667C>A (p.Arg223Ser) | ||
| c.658dupG (p.Glu220delinsGlyValfs) | ||
| c.658G>A (p.Glu220Lys) | ||
| c.652delC (p.Leu218Terfs) | ||
| c.650T>C (p.Leu217Pro) | ||
| c.634C>T (p.Gln212Ter) | ||
| c.626A>C (p.Tyr209Ser) | ||
| c.619C>T (p.Gln207Ter) | ||
| c.611G>C (p.Arg204Pro) | ||
| c.602G>A (p.Arg201His) | ||
| c.601C>T (p.Arg201Cys) | ||
| c.598delC (p.Gln200Serfs) | ||
| c.595G>A (p.Ala199Thr) | ||
| c.594T>G (p.Ile198Met) | ||
| c.575G>A (p.Ser192Asn) | ||
| c.574A>G (p.Ser192Gly) | ||
| c.554C>A (p.Pro185His) | ||
| c.553C>T (p.Pro185Ser) | ||
| c.552C>A (p.His184Gln) | ||
| c.541T>G (p.Ser181Ala) | ||
| c.539G>T (p.Cys180Phe) | ||
| c.536G>A (p.Gly179Asp) | ||
| c.528_529insG (p.Ala176_Met177delinsAlaAspAspfs) | ||
| c.509T>A (p.Ile170Asn) | ||
| c.508-5G>C | ||
| c.507+2T>C | ||
| c.499T>C (p.Trp167Arg) | ||
| c.460T>G (p.Trp154Gly) | ||
| c.452T>C (p.Val151Ala) | ||
| c.448G>C (p.Val150Leu) | ||
| c.443G>A (p.Arg148Gln) | ||
| c.442C>T (p.Arg148Trp) | ||
| c.442C>G (p.Arg148Gly) | ||
| c.428C>T (p.Ser143Leu) | ||
| c.425T>C (p.Met142Thr) | ||
| c.424A>G (p.Met142Val) | ||
| c.416T>C (p.Leu139Pro) | ||
| c.413C>T (p.Thr138Met) | ||
| c.410dupT (p.Thr138Asnfs) | ||
| c.404C>G (p.Ser135Trp) | ||
| c.400delT (p.Trp134Glyfs) | ||
| c.394C>T (p.His132Tyr) | ||
| c.389G>A (p.Cys130Tyr) | ||
| c.386T>C (p.Met129Thr) | ||
| c.377+1G>T | ||
| c.374T>C (p.Val125Ala) | ||
| c.368G>A (p.Arg123Gln) | ||
| c.354A>C (p.Gln118His) | ||
| c.350T>C (p.Phe117Ser) | ||
| c.341A>T (p.His114Leu) | ||
| c.337G>A (p.Asp113Asn) | ||
| c.336T>C (p.Ser112Ser=) | ||
| c.333_334insA (p.Pro111_Ser112delinsProLysTerfs) | ||
| c.329-2A>C | ||
| c.328+2T>C | ||
| c.292G>A (p.Asp98Asn) | ||
| c.367C>G (p.Arg123Gly) | ||
| c.290A>G (p.Asn97Ser) | ||
| c.253-2A>G | ||
| c.241G>A (p.Ala81Thr) | ||
| c.238C>T (p.Arg80Ter) | ||
| c.220_221insG (p.Leu74delinsArgValfs) | ||
| c.199C>T (p.Arg67Cys) | ||
| c.197C>A (p.Pro66His) | ||
| c.163G>T (p.Gly55Cys) | ||
| c.152G>A (p.Arg51Gln) | ||
| c.152G>T (p.Arg51Leu) | ||
| c.134C>T (p.Ser45Leu) | ||
| c.134_138delCAGCT (p.Ser45_Ala46delinsSerfs) | ||
| c.130G>T (p.Val44Leu) | ||
| c.113A>C (p.Gln38Pro) | ||
| c.98G>A (p.Arg33His) | ||
| c.95T>A (p.Ile32Asn) | ||
| c.82G>C (p.Asp28His) | ||
| c.82G>T (p.Asp28Tyr) | ||
| c.67A>G (p.Thr23Ala) | ||
| c.27G>C (p.Gln9His) | ||
| c.25C>T (p.Gln9Ter) | ||
| c.18delC (p.Thr6Thr=fs) | ||
| c.974C>T (p.Pro325Leu) | ||
| c.752A>C (p.Tyr251Ser) | ||
| c.379A>G (p.Lys127Glu) | ||
| c.580T>C (p.Phe194Leu) | ||
| c.997C>G (p.Arg333Gly) | ||
| c.607G>A (p.Glu203Lys) | ||
| c.547C>A (p.Pro183Thr) | ||
| c.512T>C (p.Phe171Ser) | ||
| c.221T>C (p.Leu74Pro) | ||
| c.130G>A (p.Val44Met) | ||
| c.425T>A (p.Met142Lys) | ||
| c.957C>A (p.His319Gln) | ||
| c.563A>G (p.Gln188Arg) | ||
| C126WfsX6 | ||
| c.1030C>A (p.Gln344Lys) | ||
| c.947G>A (p.Trp316Ter) | ||
| NM_000155.3:c.-119_-116del | ||
| c.610C>T (p.Arg204Ter) | ||
| c.855G>T (p.Lys285Asn) | ||
| c.626A>G (p.Tyr209Cys) | ||
| c.404C>T (p.Ser135Leu) | ||
| c.584T>C (p.Leu195Pro) | ||
| NM_000155.3:c.-119_-116del | ||
| c.997C>T (p.Arg333Trp) | ||
| R258C | ||
| Gaucher disease | GBA | c.870C>A (p.Phe290Leu) |
| c.509G>T (p.Arg170Leu) | ||
| c.887G>A (p.Arg296Gln) | ||
| c.1192C>T (p.Arg398Ter) | ||
| c.1049A>G (p.His350Arg) | ||
| c.1309G>T (p.Val437Phe) | ||
| c.475C>T (p.Arg159Trp) | ||
| c.1342G>C (p.Asp448His) | ||
| c.27+1G>A | ||
| c.93_94insG (p.Leu31_Gln32delinsLeuAlaGlyfs) | ||
| c.887G>A (p.Arg296Gln) | ||
| c.754T>A (p.Phe252Ile) | ||
| c.703T>C (p.Ser235Pro) | ||
| c.680A>G (p.Asn227Ser) | ||
| c.509G>T (p.Arg170Leu) | ||
| c.476G>A (p.Arg159Gln) | ||
| c.1604G>A (p.Arg535His) | ||
| c.1505G>A (p.Arg502His) | ||
| c.1504C>T (p.Arg502Cys) | ||
| c.1448T>C (p.Leu483Pro) | ||
| c.1343A>T (p.Asp448Val) | ||
| c.1297G>T (p.Val433Leu) | ||
| c.1263_1317del55 (p.Asn421_Ser439delinsAsnfs) | ||
| c.1226A>C (p.Asn409Thr) | ||
| c.1263_1317del55 (p.Asn421_Ser439delinsAsnfs) | ||
| c.532delC (p.Pro178Leufs) | ||
| c.1246G>A (p.Gly416Ser) | ||
| c.476G>A (p.Arg159Gln) | ||
| c.1342G>C (p.Asp448His) | ||
| c.1342G>C (p.Asp448His) | ||
| c.1448T>C (p.Leu483Pro) | ||
| c.1174C>G (p.Arg392Gly) | ||
| c.1141T>G (p.Cys381Gly) | ||
| c.354G>C (p.Lys118Asn) | ||
| c.1090G>A (p.Gly364Arg) | ||
| c.1343A>T (p.Asp448Val) | ||
| c.754T>A (p.Phe252Ile) | ||
| c.754T>A (p.Phe252Ile) | ||
| c.1297G>T (p.Val433Leu) | ||
| c.680A>G (p.Asn227Ser) | ||
| c.27+1G>A | ||
| c.1361C>G (p.Pro454Arg) | ||
| c.1085C>T (p.Thr362Ile) | ||
| c.1504C>T (p.Arg502Cys) | ||
| c.1504C>T (p.Arg502Cys) | ||
| c.1228C>G (p.Leu410Val) | ||
| c.354G>C (p.Lys118Asn) | ||
| c.1246G>A (p.Gly416Ser) | ||
| c.1319C>T (p.Pro440Leu) | ||
| c.1208G>C (p.Ser403Thr) | ||
| c.1053G>T (p.Trp351Cys) | ||
| c.1043C>T (p.Ala348Val) | ||
| c.763T>G (p.Phe255Val) | ||
| c.160G>T (p.Val54Leu) | ||
| c.1604G>A (p.Arg535His) | ||
| c.1549G>A (p.Gly517Ser) | ||
| c.751T>C (p.Tyr251His) | ||
| c.481C>T (p.Pro161Ser) | ||
| c.72delC (p.Leu25Serfs) | ||
| c.983C>T (p.Pro328Leu) | ||
| c.764T>A (p.Phe255Tyr) | ||
| c.254G>A (p.Gly85Glu) | ||
| c.586A>C (p.Lys196Gln) | ||
| c.259C>T (p.Arg87Trp) | ||
| c.754T>A (p.Phe252Ile) | ||
| c.1297G>T (p.Val433Leu) | ||
| c.1263_1317del55 (p.Asn421_Ser439delinsAsnfs) | ||
| c.680A>G (p.Asn227Ser) | ||
| c.27+1G>A | ||
| c.84dupG (p.Leu29Alafs*18) | ||
| c.1504C>T (p.Arg502Cys) | ||
| c.1246G>A (p.Gly416Ser) | ||
| c.1085C>T (p.Thr362Ile) | ||
| c.476G>A (p.Arg159Gln) | ||
| c.1342G>C (p.Asp448His) | ||
| c.1342G>C (p.Asp448His) | ||
| c.1342G>C (p.Asp448His) | ||
| c.1226A>G (p.Asn409Ser) | ||
| c.1448T>C (p.Leu483Pro) | ||
| c.1448T>C (p.Leu483Pro) | ||
| c.1448T>C (p.Leu483Pro) | ||
| c.1342G>C (p.Asp448His) | ||
| c.1342G>C (p.Asp448His) | ||
| c.1448T>C (p.Leu483Pro) | ||
| c.1448T>C (p.Leu483Pro) | ||
| c.535G>C (p.Asp179His) | ||
| c.1448T>C (p.Leu483Pro) | ||
| c.1154G>T (p.Cys385Phe) | ||
| glucose-6-phosphate dehydrogenase deficiency | G6PD | Glu3Lys |
| Val12Leu | ||
| Gly14Arg | ||
| His32Asp | ||
| His32Arg | ||
| Ile33Met | ||
| Met37Thr | ||
| Ala44Gly | ||
| Ala44Thr | ||
| Ile48Thr | ||
| Pro50Ser | ||
| Trp53Cys | ||
| Arg57Trp | ||
| Asp58Asn | ||
| Pro62Leu | ||
| Phe66Ile | ||
| Phe66Tyr | ||
| Val68Met | ||
| Tyr70His | ||
| Tyr70Cys | ||
| Leu75Pro | ||
| Arg81Cys | ||
| Arg81His | ||
| Pro92Ser | ||
| Arg104His | ||
| Ser106Cys | ||
| Val108Glu | ||
| Asp113Asn | ||
| His124Arg | ||
| Asn126Asp | ||
| Leu128Pro | ||
| Leu128Arg | ||
| Gly131Val | ||
| Asn135Thr | ||
| Asn135Ser | ||
| Arg136Cys | ||
| Glu148Lys | ||
| His155Asn | ||
| His155Asp | ||
| Glu156Lys | ||
| Cys158Tyr | ||
| Met159Ile | ||
| Gly163Ser | ||
| Gly163Asp | ||
| Asn165Asp | ||
| Arg166His | ||
| Pro172Ser | ||
| Phe173Leu | ||
| Phe173Leu | ||
| Asp176Gly | ||
| Ser179Cys | ||
| Asp181Val | ||
| Arg182Trp | ||
| Ser188Phe | ||
| Phe191Leu | ||
| Arg198Cys | ||
| Arg198His | ||
| Arg198Pro | ||
| Ile199Val | ||
| Met212Val | ||
| Val213Leu | ||
| Phe216Leu | ||
| Ile220Met | ||
| Arg227Trp | ||
| Arg227Gln | ||
| Arg227Leu | ||
| Asp228Asn | ||
| Cys232Tyr | ||
| Leu235Phe | ||
| Lys238Arg | ||
| Arg257Gly | ||
| Cys269Tyr | ||
| Glu274Lys | ||
| Pro276Leu | ||
| Pro276Ser | ||
| Ser278Pro | ||
| Ser278Phe | ||
| Thr279Ala | ||
| Thr279Ser | ||
| Asp282His | ||
| Asp282Tyr | ||
| Asp283Glu | ||
| Val284Ala | ||
| Arg285Cys | ||
| Arg285His | ||
| Val291Met | ||
| Val303Leu | ||
| Val304Phe | ||
| Gly306Ser | ||
| Gln307His | ||
| Gly310Glu | ||
| Glu317Lys | ||
| Gly321Glu | ||
| Tyr322His | ||
| Leu323Pro | ||
| Pro326His | ||
| Ala335Thr | ||
| Ala335Asp | ||
| Thr336Ala | ||
| Leu342Phe | ||
| Asp350His | ||
| Gly351Val | ||
| Gly351Trp | ||
| Pro353Ser | ||
| Ile355Thr | ||
| Ala361Val | ||
| Ala361Thr | ||
| Asn363Lys | ||
| Asn363Lys | ||
| Lys366Glu | ||
| Ile380Thr | ||
| Ile380Val | ||
| Phe381Ile | ||
| Phe381Leu | ||
| Cys385Arg | ||
| Cys385Phe | ||
| Cys385Trp | ||
| Lys386Glu | ||
| Arg387His | ||
| Arg387Cys | ||
| Asn388Asp | ||
| Glu389Gly | ||
| Ile392Thr | ||
| Arg393Gly | ||
| Arg393His | ||
| Val394Leu | ||
| Pro396Leu | ||
| Pro396Ala | ||
| Glu398Lys | ||
| Glu398Gly | ||
| Thr402Asn | ||
| Met405Ile | ||
| Lys407Thr | ||
| Pro409Arg | ||
| Pro409Ser | ||
| Gly410Asp | ||
| Gly410Ala | ||
| Gly410Cys | ||
| Met411Val | ||
| Glu416Lys | ||
| Leu422Val | ||
| Tyr428Term | ||
| Val431Met | ||
| Val431Gly | ||
| Arg439Pro | ||
| Leu440Phe | ||
| Gly447Arg | ||
| Gly447Val | ||
| Ser448Gly | ||
| Gln449His | ||
| Val453Glu | ||
| Arg454His | ||
| Arg454Cys | ||
| Asp456His | ||
| Arg459Pro | ||
| Arg459Leu | ||
| Ala461Thr | ||
| Arg463His | ||
| Arg463Ser | ||
| Arg463Cys | ||
| Pro467Arg | ||
| Ile472Leu | ||
| Pro481Arg | ||
| Gly488Ser | ||
| Gly488Val | ||
| Pro489Leu | ||
| Pro489Ser | ||
| Phe501Cys | ||
| Glycogen storage disease type II | GAA | c.525delT (p.Glu176Argfs) |
| c.307T>G (p.Cys103Gly) | ||
| c.2544delC (p.Lys849Argfs) | ||
| c.2512C>T (p.Gln838Ter) | ||
| c.2105G>T (p.Arg702Leu) | ||
| c.2066_2070dupAGCCG (p.Ala691Serfs) | ||
| c.2012T>G (p.Met671Arg) | ||
| c.1465G>A (p.Asp489Asn) | ||
| c.877G>A (p.Gly293Arg) | ||
| c.710C>T (p.Ala237Val) | ||
| c.1634C>T (p.Pro545Leu) | ||
| c.2707_2709delAAG (p.Lys903del) | ||
| c.1585_1586delTCinsGT (p.Ser529Val) | ||
| c.896T>G (p.Leu299Arg) | ||
| c.2173C>T (p.Arg725Trp) | ||
| c.1561G>A (p.Glu521Lys) | ||
| c.953T>C (p.Met318Thr) | ||
| c.-32-13T>G | ||
| c.1935C>A (p.Asp645Glu) | ||
| c.1935C>A (p.Asp645Glu) | ||
| c.1927G>A (p.Gly643Arg) | ||
| c.2560C>T (p.Arg854Ter) | ||
| c.525delT (p.Glu176Argfs) | ||
| c.-32-13T>G | ||
| c.2482_2646del165 (p.Gly828_Asn882del) | ||
| Gorlin syndrome | PTCH1 | c.1081C>T (p.Gln361Ter) |
| Hemophilia A | FVIII | c.1172G>A (p.Arg391His) |
| c.1754T>C (p.Ile585Thr) | ||
| c.5122C>T (p.Arg1708Cys) | ||
| C2105Y | ||
| F2101L | ||
| W2046R | ||
| W1942* | ||
| L1756F | ||
| G1750R | ||
| E161* | ||
| F658L | ||
| Y636* | ||
| W585C | ||
| G479R | ||
| S373* | ||
| C329S | ||
| W323* | ||
| G259R | ||
| c.6956C>T (p.Pro2319Leu) | ||
| c.6865C>T (p.Gln2289Ter) | ||
| c.6794A>G (p.Gln2265Arg) | ||
| c.6682C>G (p.Arg2228Gly) | ||
| c.6683G>T (p.Arg2228Leu) | ||
| c.6631G>C (p.Ala2211Pro) | ||
| c.6544C>T (p.Arg2182Cys) | ||
| c.6545G>A (p.Arg2182His) | ||
| c.6518C>T (p.Thr2173Ile) | ||
| c.6515C>A (p.Pro2172Gln) | ||
| c.6533G>T (p.Arg2178Leu) | ||
| c.6413C>A (p.Ser2138Tyr) | ||
| c.6278A>G (p.Asp2093Gly) | ||
| c.6263C>T (p.Ser2088Phe) | ||
| c.6113A>G (p.Asn2038Ser) | ||
| c.5938C>T (p.His1980Tyr) | ||
| c.5936G>T (p.Gly1979Val) | ||
| c.5879G>T (p.Arg1960Leu) | ||
| c.5677C>T (p.Gln1893Ter) | ||
| c.5593G>T (p.Asp1865Tyr) | ||
| c.5443C>T (p.Gln1815Ter) | ||
| c.5408C>A (p.Ser1803Tyr) | ||
| c.5398C>G (p.Arg1800Gly) | ||
| c.5398C>T (p.Arg1800Cys) | ||
| c.5336G>A (p.Gly1779Glu) | ||
| c.5323T>G (p.Leu1775Val) | ||
| c.5143C>G (p.Arg1715Gly) | ||
| c.2149C>T (p.Arg717Trp) | ||
| c.1988C>T (p.Ala663Val) | ||
| c.1957G>A (p.Val653Met) | ||
| c.1958T>C (p.Val653Ala) | ||
| c.1892A>G (p.Asn631Ser) | ||
| c.1814A>C (p.Tyr605Ser) | ||
| c.1808G>T (p.Ser603Ile) | ||
| c.1730C>T (p.Ser577Phe) | ||
| c.1726G>T (p.Glu576Ter) | ||
| c.1682A>G (p.Asp561Gly) | ||
| c.1660A>G (p.Ser554Gly) | ||
| c.1649G>A (p.Arg550His) | ||
| c.1648C>G (p.Arg550Gly) | ||
| c.1630G>A (p.Asp544Asn) | ||
| c.1481T>C (p.Ile494Thr) | ||
| c.980T>C (p.LEU327PRO) | ||
| c.940A>G (p.Thr314Ala) | ||
| c.935T>C (p.Phe312Ser) | ||
| c.923C>T (p.Ser308Leu) | ||
| c.902G>T (p.Arg301Leu) | ||
| c.896A>T (p.Asn299Ile) | ||
| c.854T>G (p.Val285Gly) | ||
| c.670G>T (p.Gly224Trp) | ||
| c.665A>T (p.Asp222Val) | ||
| c.554A>C (p.Lys185Thr) | ||
| c.541G>A (p.Val181Met) | ||
| c.493C>T (p.Pro165Ser) | ||
| c.491G>T (p.Gly164Val) | ||
| c.404A>G (p.Asp135Gly) | ||
| c.398A>G (p.Tyr133Cys) | ||
| c.350T>G (p.Leu117Arg) | ||
| c.328A>G (p.Met110Val) | ||
| c.311T>A (p.Val104Asp) | ||
| c.296T>A (p.Val99Asp) | ||
| c.275G>T (p.Gly92Val) | ||
| c.266G>A (p.Gly89Asp) | ||
| c.121G>T (p.Gly41Cys) | ||
| c.89A>T (p.Glu30Val) | ||
| c.77T>G (p.Leu26Arg) | ||
| c.6955C>T (p.Pro2319Ser) | ||
| c.5167G>A (p.Glu1723Lys) | ||
| c.566C>T (p.Ser189Leu) | ||
| c.6554T>C (p.Leu2185Ser) | ||
| c.5183A>G (p.Tyr1728Cys) | ||
| c.6403C>T (p.Arg2135Ter) | ||
| c.6976C>T (p.Arg2326Ter) | ||
| c.104A>G (p.Tyr35Cys) | ||
| c.592T>G (p.Cys198Gly) | ||
| c.6968G>A (p.Arg2323His) | ||
| c.6533G>A (p.Arg2178His) | ||
| c.6016G>T (p.Glu2006Ter) | ||
| c.5710G>A (p.Glu1904Lys) | ||
| c.5618C>G (p.Pro1873Arg) | ||
| c.5600A>G (p.His1867Arg) | ||
| c.5593G>A (p.Asp1865Asn) | ||
| c.5558C>T (p.Ala1853Val) | ||
| c.5479A>T (p.Lys1827Ter) | ||
| c.5533A>C (p.Thr1845Pro) | ||
| c.5530C>T (p.Pro1844Ser) | ||
| c.5526G>A (p.Met1842Ile) | ||
| c.5123G>A (p.Arg1708His) | ||
| c.4825dupA (p.Thr1609Asnfs) | ||
| c.2383A>T (p.Arg795Ter) | ||
| c.2215G>A (p.Glu739Lys) | ||
| c.1418A>G (p.Tyr473Cys) | ||
| c.1417T>C (p.Tyr473His) | ||
| c.1348T>A (p.Tyr450Asn) | ||
| c.1331A>G (p.Lys444Arg) | ||
| c.1293G>T (p.Leu431Phe) | ||
| c.1226A>G (p.Glu409Gly) | ||
| c.1174T>C (p.Ser392Pro) | ||
| c.1175C>T (p.Ser392Leu) | ||
| c.986G>A (p.Cys329Tyr) | ||
| c.881C>T (p.Thr294Ile) | ||
| c.5372T>C (p.Met1791Thr) | ||
| c.1336C>T (p.Arg446Ter) | ||
| c.985T>C (p.Cys329Arg) | ||
| c.5821A>G (p.Asn1941Asp) | ||
| c.1063C>T (p.Arg355Ter) | ||
| c.6404G>C (p.Arg2135Pro) | ||
| c.6977G>A (p.Arg2326Gln) | ||
| c.5096A>T (p.Tyr1699Phe) | ||
| c.5113C>T (p.Gln1705Ter) | ||
| c.5879G>A (p.Arg1960Gln) | ||
| c.6977G>T (p.Arg2326Leu) | ||
| c.6496C>T (p.Arg2166Ter) | ||
| W2229C | ||
| c.5422C>T (p.Leu1808Phe) | ||
| c.5399G>A (p.Arg1800His) | ||
| c.5143C>T (p.Arg1715Ter) | ||
| c.2167G>A (p.Ala723Thr) | ||
| c.1750C>A (p.Gln584Lys) | ||
| c.2114-?_5219+?del (p.Trp(?_707)_Trp(707_?)Argfs) | ||
| c.1171C>T (p.Arg391Cys) | ||
| c.872A>G (p.Glu291Gly) | ||
| c.6682C>T (p.Arg2228Ter) | ||
| c.6967C>T (p.Arg2323Cys) | ||
| c.6912_6916delAAATC (p.Gly2304_Gln2306delinsGlyArgfs) | ||
| c.6794_6795delAG (p.Gln2265Argfs) | ||
| c.6699delG (p.Gly2233Gly=fs) | ||
| c.6464_6465delAA (p.Lys2155Thrfs) | ||
| c.6412_6413delTC (p.Ser2138Hisfs) | ||
| c.6049delG (p.Val2017Trpfs) | ||
| c.5719_5720insA (p.Ser1907delinsLysLeufs) | ||
| c.5622_5623insT (p.Leu1874_Leu1875delinsLeuSerGlyfs) | ||
| c.4328_4331delAAGA (p.Lys1443_Asp1444delinsIlefs) | ||
| c.4293_4297delCTCTT (p.Asn1431_Ser1433delinsAsnSerfs) | ||
| c.4121_4124delTAGA (p.Ile1374_Asp1375delinsThrfs) | ||
| c.3548_3549delAA (p.Lys1183Argfs) | ||
| c.3169G>A (p.Glu1057Lys) | ||
| c.2962_2963delAG (p.Ser988Trpfs) | ||
| c.2945_2946insA (p.Asn982delinsLysCysfs) | ||
| c.1729T>C (p.Ser577Pro) | ||
| c.1596_1597insG (p.Trp532_Thr533delinsTrpAspSerfs) | ||
| c.1293delG (p.Leu431Leu=fs) | ||
| c.1197_1198delAA (p.Lys399_Thr400delinsAsnLeufs) | ||
| c.1078_1079delGA (p.Glu360Argfs) | ||
| c.943delG (p.Ala315Leufs) | ||
| c.907delG (p.Ala303Argfs) | ||
| c.849delT (p.Pro283Pro=fs) | ||
| c.687_688delAG (p.Ser229_Glu230delinsSerAsnfs) | ||
| c.364_365delGT (p.Val122Ilefs) | ||
| c.199_200delAA (p.Lys67Aspfs) | ||
| c.1075_1078delAATG (p.Asn359_Glu360delinsLysfs) | ||
| c.1033G>T (p.Val345Leu) | ||
| c.5878C>T (p.Arg1960Ter) | ||
| c.601+1632G>A | ||
| c.1804C>T (p.Arg602Ter) | ||
| c.1648C>T (p.Arg550Cys) | ||
| c.1636C>T (p.Arg546Trp) | ||
| c.902G>A (p.Arg301His) | ||
| c.5822A>G (p.Asn1941Ser) | ||
| c.4858delC (p.Leu1620Terfs) | ||
| c.3692delC (p.Pro1231Leufs) | ||
| c.3637delA (p.Ile1213Phefs) | ||
| c.43C>T (p.Arg15Ter) | ||
| c.1834C>T (p.Arg612Cys) | ||
| c.4379delA (p.Asn1460Ilefs) | ||
| c.5122C>T (p.Arg1708Cys) | ||
| c.6683G>A (p.Arg2228Gln) | ||
| c.6506G>A (p.Arg2169His) | ||
| c.5953C>T (p.Arg1985Ter) | ||
| c.6532C>T (p.Arg2178Cys) | ||
| Hereditary hemochromatosis | HFE | c.989G>T (p.Arg330Met) |
| c.381A>C (p.Gln127His) | ||
| c.277G>C (p.Gly93Arg) | ||
| c.314T>C (p.Ile105Thr) | ||
| c.848A>C (p.Gln283Pro) | ||
| c.193A>T (p.Ser65Cys) | ||
| c.187C>G (p.His63Asp) | ||
| c.187C>G (p.His63Asp) | ||
| c.845G>A (p.Cys282Tyr) | ||
| c.845G>A (p.Cys282Tyr) | ||
| Hereditary multiple exostoses | EXT1 | c.357C>A (p.Tyr119Ter) |
| c.1019G>T (p.Arg340Leu) | ||
| c.1018C>T (p.Arg340Cys) | ||
| c.1016G>A (p.Gly339Asp) | ||
| EXT2 | c.871C>T (p.Gln291Ter) | |
| c.765C>G (p.Tyr255Ter) | ||
| c.778G>A (p.Asp260Asn) | ||
| c.613C>T (p.Gln205Ter) | ||
| Hirschsprung | EDN3 | Ala17Thr |
| Glu48Asp | ||
| Glu55Term | ||
| Arg93Gly | ||
| Asp166Glu | ||
| Cys173Arg | ||
| Ala224Thr | ||
| EDNRB | c.43A>T (p.Lys15Ter) | |
| c.914G>A (p.Ser305Asn) | ||
| c.824G>A (p.Trp275Ter) | ||
| c.828G>T (p.Trp276Cys) | ||
| c.169G>A (p.Gly57Ser) | ||
| RET | c.3116C>T (p.Pro1039Leu) | |
| c.1826G>A (p.Cys609Tyr) | ||
| c.1860C>G (p.Cys620Trp) | ||
| c.1880-2A>G | ||
| Holoprosencephaly | SHH | c.708C>A (p.Ser236Arg) |
| c.664G>A (p.Asp222Asn) | ||
| c.625C>T (p.Gln209Ter) | ||
| c.562G>C (p.Glu188Gln) | ||
| c.474C>G (p.Tyr158Ter) | ||
| c.300G>C (p.Gln100His) | ||
| c.38_45delTCTCCTCG (p.Val13Alafs) | ||
| c.9_10insGCTG (p.Leu4Alafs) | ||
| c.1210_1224delGGGGACCGCGGGGGC (p.Asp405_Gly409del) | ||
| c.383G>A (p.Trp128Ter) | ||
| c.766G>T (p.Glu256Ter) | ||
| c.1132_1140delGCGCCCTTC (p.Ala378_Phe380del) | ||
| c.1270C>G (p.Pro424Ala) | ||
| c.1147G>A (p.Ala383Thr) | ||
| c.850G>T (p.Glu284Ter) | ||
| c.788_808del21 (p.Arg263_Ala269del) | ||
| c.676G>A (p.Ala226Thr) | ||
| c.671T>A (p.Val224Glu) | ||
| c.313A>T (p.Lys105Ter) | ||
| c.298C>T (p.Gln100Ter) | ||
| c.345C>A (p.Asn115Lys) | ||
| c.263A>T (p.Asp88Val) | ||
| c.349T>C (p.Trp117Arg) | ||
| c.349T>G (p.Trp117Gly) | ||
| c.91G>A (p.Gly31Arg) | ||
| c.869G>A (p.Gly290Asp) | ||
| c.869G>A (p.Gly290Asp) | ||
| ZIC2 | c.1091_1092delAG (p.Gln364Leufs) | |
| c.936delG (p.Lys312Asnfs) | ||
| c.1040_1046delCCGAGAA (p.Glu348Serfs) | ||
| c.1318dupC (p.Leu440Profs) | ||
| GLI2 | c.4558G>A (p.Asp1520Asn) | |
| c.1885G>A (p.Glu629Lys) | ||
| c.4663T>C (p.Ser1555Pro) | ||
| c.1435C>G (p.Arg479Gly) | ||
| c.1323G>A (p.Trp441Ter) | ||
| c.864_865delCC (p.His289Profs) | ||
| PTCH | c.2479A>G (p.Ser827Gly) | |
| c.1177G>A (p.Ala393Thr) | ||
| c.3155C>T (p.Thr1052Met) | ||
| c.2183C>T (p.Thr728Met) | ||
| DHCR7 | Gly344Asp | |
| DISP1 | Trp475Term | |
| Tyr734Term | ||
| Holoprosencephaly nonsyndromic | SIX3 | c.696_705delCCCCAGCAAG (p.Asn232Lysfs) |
| c.339G>T (p.Trp113Cys) | ||
| c.206G>A (p.Gly69Asp) | ||
| c.109G>T (p.Gly37Cys) | ||
| c.385G>T (p.Glu129Ter) | ||
| c.749T>C (p.Val250Ala) | ||
| c.770G>C (p.Arg257Pro) | ||
| c.676C>G (p.Leu226Val) | ||
| c.109G>T (p.Gly37Cys) | ||
| c.385G>T (p.Glu129Ter) | ||
| Hypochondroplasia | FGFR3 | c.1950G>C (p.Lys650Asn) |
| K652Q | ||
| c.1950G>T (p.Lys650Asn) | ||
| c.1620C>G (p.Asn540Lys) | ||
| c.1620C>A (p.Asn540Lys) | ||
| c.983A>T (p.Asn328Ile) | ||
| c.970C>G (p.Leu324Val) | ||
| c.801G>T (p.Leu267=) | ||
| c.597C>T (p.His199=) | ||
| c.1949A>C (p.Lys650Thr) | ||
| c.1142T>A (p.Val381Glu) | ||
| c.1024G>T (p.Gly342Cys) | ||
| c.791C>T (p.Thr264Met) | ||
| c.344A>T (p.Gln115Leu) | ||
| c.835A>T (p.Ser279Cys) | ||
| c.251C>T (p.Ser84Leu) | ||
| c.833A>G (p.Tyr278Cys) | ||
| c.1612A>G (p.Ile538Val) | ||
| c.1619A>C (p.Asn540Thr) | ||
| c.1619A>G (p.Asn540Ser) | ||
| c.1948A>C (p.Lys650Gln) | ||
| c.835A>T (p.Ser279Cys) | ||
| c.1620C>A (p.Asn540Lys) | ||
| Hypohidrotic ectodermal dysplasia | EDA | c.961G>T (p.Glu321Ter) |
| c.871G>A (p.Gly291Arg) | ||
| c.822delG (p.Trp274Cysfs) | ||
| c.730C>T (p.Arg244Ter) | ||
| c.663_697del (p.Pro222_Gly233delinsThrfs) | ||
| c.572_589del (p.Pro191_Gln197delinsGln) | ||
| c.562_589del (p.Pro188_Gln197delinsArgfs) | ||
| c.553_588del (p.Asn185_Pro196del) | ||
| c.546_581del (p.Asn185_Pro194del) | ||
| c.467G>A (p.Arg156His) | ||
| c.463C>T (p.Arg155Cys) | ||
| c.826C>T (p.Arg276Cys) | ||
| c.1045G>A (p.Ala349Thr) | ||
| c.671G>C (p.Gly224Ala) | ||
| c.626C>T (p.Pro209Leu) | ||
| c.466C>T (p.Arg156Cys) | ||
| c.463C>T (p.Arg155Cys) | ||
| c.347T>A (p.Leu116Ter) | ||
| c.329C>A (p.Ser110Ter) | ||
| c.2T>C (p.Met1Thr) | ||
| c.272_273insG (p.Ser91delinsArgGlnfs) | ||
| c.183C>G (p.Tyr61Ter) | ||
| c.187G>A (p.Glu63Lys) | ||
| c.67C>T (p.Gln23Ter) | ||
| c.206G>T (p.Arg69Leu) | ||
| c.181T>C (p.Tyr61His) | ||
| c.467G>A (p.Arg156His) | ||
| c.902A>G (p.Tyr301Cys) | ||
| c.895G>A (p.Gly299Ser) | ||
| c.822G>T (p.Trp274Cys) | ||
| c.607C>T (p.Pro203Ser) | ||
| c.526+5G>T | ||
| c.467G>T (p.Arg156Leu) | ||
| c.457C>T (p.Arg153Cys) | ||
| c.164T>A (p.Leu55Gln) | ||
| Kabuki | KMT2D | c.16391C>T (p.Thr5464Met) |
| c.16360C>T (p.Arg5454Ter) | ||
| c.13579A>T (p.Lys4527Ter) | ||
| c.15536G>A (p.Arg5179His) | ||
| KDM6A | c.1909_1912delTCTA (p.Ser637Thrfs) | |
| c.1555C>T (p.Arg519Ter) | ||
| c.3717G>A (p.Trp1239Ter) | ||
| c.3354_3356delTCT (p.Leu1119del) | ||
| Long QT syndrome (LQT1-12) | KCNQ1 | F339del |
| c.613G>A (p.Val205Met) | ||
| c.1552C>T (p.Arg518Ter) | ||
| c.728G>C (p.Arg243Pro) | ||
| c.922-1G>C | ||
| c.1573G>A (p.Ala525Thr) | ||
| c.565G>A (p.Gly189Arg) | ||
| c.1032G>A (p.Ala344Ala=) | ||
| c.418A>G (p.Ser140Gly) | ||
| c.914G>C (p.Trp305Ser) | ||
| c.1034G>A (p.Gly345Glu) | ||
| c.1747C>T (p.Arg583Cys) | ||
| c.898G>A (p.Ala300Thr) | ||
| c.350C>T (p.Pro117Leu) | ||
| c.532G>C (p.Ala178Pro) | ||
| c.1022C>A (p.Ala341Glu) | ||
| c.1766G>A (p.Gly589Asp) | ||
| c.1760C>T (p.Thr587Met) | ||
| c.1663C>T (p.Arg555Cys) | ||
| c.916G>A (p.Gly306Arg) | ||
| c.806G>A (p.Gly269Asp) | ||
| c.1766G>A (p.Gly589Asp) | ||
| c.940G>A (p.Gly314Ser) | ||
| c.817C>T (p.Leu273Phe) | ||
| c.760G>A (p.Val254Met) | ||
| c.935C>T (p.Thr312Ile) | ||
| c.905C>T (p.Ala302Val) | ||
| c.805G>A (p.Gly269Ser) | ||
| c.1022C>A (p.Ala341Glu) | ||
| c.569G>A (p.Arg190Gln) | ||
| c.1022C>T (p.Ala341Val) | ||
| KCNH2 | c.298C>G (p.Arg100Gly) | |
| c.2842C>T (p.Arg948Cys) | ||
| c.1764C>A (p.Asn588Lys) | ||
| c.3003G>A (p.Trp1001Ter) | ||
| c.2738C>T (p.Ala913Val) | ||
| c.2582A>T (p.Asn861Ile) | ||
| c.2255G>A (p.Arg752Gln) | ||
| c.2738C>T (p.Ala913Val) | ||
| c.1468G>A (p.Ala490Thr) | ||
| c.2582A>T (p.Asn861Ile) | ||
| c.1408A>G (p.Asn470Asp) | ||
| c.1672G>C (p.Ala558Pro) | ||
| c.193A>C (p.Thr65Pro) | ||
| c.1778T>G (p.Ile593Arg) | ||
| c.1764C>G (p.Asn588Lys) | ||
| c.1831T>C (p.Tyr611His) | ||
| c.1882G>A (p.Gly628Ser) | ||
| c.2464G>A (p.Val822Met) | ||
| c.1744C>T (p.Arg582Cys) | ||
| c.2453C>T (p.Ser818Leu) | ||
| c.1682C>T (p.Ala561Val) | ||
| c.1841C>T (p.Ala614Val) | ||
| c.1714G>C (p.Gly572Arg) | ||
| SCN5A | c.5452G>A (p.Asp1818Asn) | |
| c.2821_2822delTCinsAA (p.Ser941Asn) | ||
| c.5382_5384dupTGA (p.Tyr1794_Glu1795insAsp) | ||
| c.4508_4516delAGAAGCCCC (p.Gln1506_Pro1508del) | ||
| c.5474G>A (p.Arg1825His) | ||
| c.2989G>T (p.Ala997Ser) | ||
| c.5381A>G (p.Tyr1794Cys) | ||
| c.3971A>G (p.Asn1324Ser) | ||
| c.4865G>A (p.Arg1622Gln) | ||
| c.4928G>A (p.Arg1643His) | ||
| c.5347G>A (p.Glu1783Lys) | ||
| c.4865G>A (p.Arg1622Gln) | ||
| ANK2 | c.5434C>T (p.Arg1812Trp) | |
| c.4346A>G (p.Glu1449Gly) | ||
| KCNE1 | c.221C>T (p.Ser74Leu) | |
| c.253G>A (p.Asp85Asn) | ||
| c.226G>A (p.Asp76Asn) | ||
| c.2582A>T (p.Asn861Ile) | ||
| c.2582A>T (p.Asn861Ile) | ||
| KCNE2 | c.178T>C (p.Phe60Leu) | |
| c.161T>C (p.Met54Thr) | ||
| c.170T>C (p.Ile57Thr) | ||
| KCNJ2 | Thr75Ala | |
| Asp172Asn | ||
| Pro351Ser | ||
| CAV3 | c.236T>G (p.Leu79Arg) | |
| c.40G>C (p.Val14Leu) | ||
| c.253G>A (p.Ala85Thr) | ||
| c.423C>G (p.Ser141Arg) | ||
| c.233C>T (p.Thr78Met) | ||
| c.233C>T (p.Thr78Met) | ||
| SCN4B | c.535C>T (p.Leu179Phe | |
| AKAP9 | c.4709C>T (p.Ser1570Leu | |
| SNTA1 | c.1169C>T (p.Ala390Val) | |
| Marfan syndrome | FBN1 | c.7726C>T (p.Arg2576Cys) |
| c.7726C>T (p.Arg2576Cys) | ||
| c.8268G>A (p.Trp2756Ter) | ||
| c.3095G>A (p.Cys1032Tyr) | ||
| c.3391A>T (p.Asn1131Tyr) | ||
| c.3128A>G (p.Lys1043Arg) | ||
| c.4087+1G>A | ||
| c.3965-2A>T | ||
| c.6920G>C (p.Cys2307Ser) | ||
| c.4781G>A (p.Gly1594Asp) | ||
| c.3217G>A (p.Glu1073Lys) | ||
| c.2954G>A (p.Gly985Glu) | ||
| c.3509G>A (p.Arg1170His) | ||
| c.3220T>C (p.Cys1074Arg) | ||
| c.3410G>C (p.Arg1137Pro) | ||
| c.6339T>G (p.Tyr2113Ter) | ||
| c.958_959insT (p.Tyr320delinsLeuHisfs) | ||
| c.8267G>A (p.Trp2756Ter) | ||
| c.7606G>A (p.Gly2536Arg) | ||
| c.7180C>T (p.Arg2394Ter) | ||
| c.7167_7168delCT (p.Cys2390Serfs) | ||
| c.643C>T (p.Arg215Ter) | ||
| c.5788+5G>A | ||
| c.5863C>T (p.Gln1955Ter) | ||
| c.5512G>T (p.Gly1838Cys) | ||
| c.5368C>T (p.Arg1790Ter) | ||
| c.5066-1G>C | ||
| c.4955G>A (p.Cys1652Tyr) | ||
| c.493C>T (p.Arg165Ter) | ||
| c.4367G>C (p.Cys1456Ser) | ||
| c.4270C>G (p.Pro1424Ala) | ||
| c.4222T>C (p.Cys1408Arg) | ||
| c.368G>A (p.Cys123Tyr) | ||
| c.3463+1G>T | ||
| c.3274delG (p.Asp1092Thrfs) | ||
| c.3164G>A (p.Cys1055Tyr) | ||
| c.2855-1G>A | ||
| c.247+1G>A | ||
| c.2412_2413delAT (p.Cys805Terfs) | ||
| c.2407A>T (p.Lys803Ter) | ||
| c.2341T>C (p.Cys781Arg) | ||
| c.184C>T (p.Arg62Cys) | ||
| c.1546C>T (p.Arg516Ter) | ||
| c.1468+5G>A | ||
| c.1148-2A>G | ||
| c.1192A>T (p.Arg398Ter) | ||
| c.1051C>T (p.Gln351Ter) | ||
| c.8412_8417delTAAAAT (p.Phe2804_Ile2806delinsPhe) | ||
| c.83A>G (p.Asn28Ser) | ||
| c.8219A>G (p.Asn2740Ser) | ||
| c.8203delG (p.Glu2735Lysfs) | ||
| c.7898G>C (p.Cys2633Ser) | ||
| c.7806G>A (p.Trp2602Ter) | ||
| c.7678delC (p.Gln2560Argfs) | ||
| c.7666T>G (p.Phe2556Val) | ||
| c.7412C>G (p.Pro2471Arg) | ||
| c.7072G>A (p.Val2358Ile) | ||
| c.6970G>A (p.Ala2324Thr) | ||
| c.6793_6800dupTGCAAGAA (p.Cys2265_Asn2267delinsCysLysAsnAlaArgThrfs) | ||
| c.6704delG (p.Gly2235Aspfs) | ||
| c.6553_6556dupATTG (p.Ile2185_Gly2186delinsIleAspTrpArgfs) | ||
| c.6385G>T (p.Asp2129Tyr) | ||
| c.6006_6012dupTGGATAC (p.Pro2002_Tyr2004delinsProGlyTyrTrpIleGlnfs) | ||
| c.56C>T (p.Ser19Phe) | ||
| c.5671G>C (p.Asp1891His) | ||
| c.556T>C (p.Cys186Arg) | ||
| c.5521_5528delTTCACCTC (p.Phe1841_Ser1843delinsHisfs) | ||
| c.484G>A (p.Ala162Thr) | ||
| c.4165T>G (p.Cys1389Gly) | ||
| c.3560A>G (p.His1187Arg) | ||
| c.3478G>T (p.Glu1160Ter) | ||
| c.3140_3141delCC (p.Thr1047Asnfs) | ||
| c.3026C>G (p.Pro1009Arg) | ||
| c.2682delC (p.Pro894Pro=fs) | ||
| c.2677G>C (p.Asp893His) | ||
| c.266G>C (p.Cys89Ser) | ||
| c.2542A>C (p.Thr848Pro) | ||
| c.2508T>A (p.Ser836Arg) | ||
| c.2479T>C (p.Ser827Pro) | ||
| c.2369G>C (p.Cys790Ser) | ||
| c.2186delT (p.Leu729Glnfs) | ||
| c.2057C>A (p.Ala686Asp) | ||
| c.1948C>T (p.Arg650Cys) | ||
| c.1710T>A (p.Cys570Ter) | ||
| c.1709delG (p.Cys570Leufs) | ||
| c.1669_1677dupTGTAATGCG (p.Cys557_Ala559delinsCysAsnAlaCysAsnAla) | ||
| c.1634G>A (p.Arg545His) | ||
| c.8605_8606delTT (p.Leu2869Alafs) | ||
| c.8600A>C (p.Gln2867Pro) | ||
| c.8483C>G (p.Ser2828Ter) | ||
| c.8378A>G (p.Tyr2793Cys) | ||
| c.7955G>A (p.Cys2652Tyr) | ||
| c.7892G>A (p.Cys2631Tyr) | ||
| c.7852G>A (p.Gly2618Arg) | ||
| c.7580A>C (p.Glu2527Ala) | ||
| c.7497_7498delAT (p.Val2501Terfs) | ||
| c.7453+1G>T | ||
| c.7168T>C (p.Cys2390Arg) | ||
| c.7094G>A (p.Cys2365Tyr) | ||
| c.6920G>A (p.Cys2307Tyr) | ||
| c.6841C>T (p.Gln2281Ter) | ||
| c.6658C>T (p.Arg2220Ter) | ||
| c.6656T>C (p.Phe2219Ser) | ||
| c.6630T>G (p.Cys2210Trp) | ||
| c.6515_6516delTTinsG (p.Val2172Glyfs) | ||
| c.6379+1G>A | ||
| c.6289G>T (p.Glu2097Ter) | ||
| c.6119G>A (p.Cys2040Tyr) | ||
| c.5869C>T (p.Gln1957Ter) | ||
| c.5840G>A (p.Cys1947Tyr) | ||
| c.5747G>A (p.Cys1916Tyr) | ||
| c.5721C>G (p.Asn1907Lys) | ||
| c.561delT (p.Phe187Leufs) | ||
| c.5588G>A (p.Gly1863Glu) | ||
| c.5504G>A (p.Cys1835Tyr) | ||
| c.5437C>T (p.Gln1813Ter) | ||
| c.529T>C (p.Cys177Arg) | ||
| c.5251C>T (p.Gln1751Ter) | ||
| c.497G>C (p.Cys166Ser) | ||
| c.4942G>A (p.Asp1648Asn) | ||
| c.4937G>A (p.Cys1646Tyr) | ||
| c.4781G>A (p.Gly1594Asp) | ||
| c.4615C>T (p.Arg1539Ter) | ||
| c.4567C>T (p.Arg1523Ter) | ||
| c.4531T>C (p.Cys1511Arg) | ||
| c.4505G>A (p.Cys1502Tyr) | ||
| c.4406G>C (p.Arg1469Pro) | ||
| c.4364T>G (p.Ile1455Ser) | ||
| c.4367G>A (p.Cys1456Tyr) | ||
| c.4259G>A (p.Cys1420Tyr) | ||
| c.4251_4259delTGGCCAGTG (p.Gly1418_Cys1420del) | ||
| c.4160A>G (p.Tyr1387Cys) | ||
| c.4048T>A (p.Cys1350Ser) | ||
| c.4016G>C (p.Cys1339Ser) | ||
| c.4001G>A (p.Gly1334Asp) | ||
| c.3886T>C (p.Cys1296Arg) | ||
| c.3848A>C (p.Glu1283Ala) | ||
| c.3413G>T (p.Cys1138Phe) | ||
| c.3392A>G (p.Asn1131Ser) | ||
| c.3337+1G>A | ||
| c.30_40del (p.Leu11_Thr14delinsArgfs) | ||
| c.3058A>G (p.Thr1020Ala) | ||
| c.3012C>G (p.Tyr1004Ter) | ||
| c.299G>T (p.Cys100Phe) | ||
| c.2833delG (p.Ala945Profs) | ||
| c.2691_2692insT (p.Lys898delinsTerArgfs) | ||
| c.268_269delGGinsC (p.Gly90Argfs) | ||
| c.2496T>G (p.Cys832Trp) | ||
| c.2495G>A (p.Cys832Tyr) | ||
| c.2489G>C (p.Cys830Ser) | ||
| c.2488T>G (p.Cys830Gly) | ||
| c.2448C>G (p.Cys816Trp) | ||
| c.2447G>C (p.Cys816Ser) | ||
| c.239G>A (p.Cys80Tyr) | ||
| c.2242T>C (p.Cys748Arg) | ||
| c.2188G>A (p.Asp730Asn) | ||
| c.185G>A (p.Arg62His) | ||
| c.1837+1G>T | ||
| Marfan’s syndrome | ||
| c.1561_1562delAG (p.Ser521Hisfs) | ||
| c.1095C>A (p.Cys365Ter) | ||
| c.7999G>A (p.Glu2667Lys) | ||
| c.7229A>C (p.His2410Pro) | ||
| c.5552A>G (p.Asn1851Ser) | ||
| c.4684T>A (p.Cys1562Ser) | ||
| c.454A>T (p.Ser152Cys) | ||
| c.2855-1G>C | ||
| c.1211delC (p.Pro404Hisfs) | ||
| c.2261A>G (p.Tyr754Cys) | ||
| c.4253_4259delGCCAGTG (p.Gly1418Alafs) | ||
| c.8226+1G>T | ||
| c.8156_8175del20 (p.Lys2719Thrfs) | ||
| c.8155_8156delAA (p.Lys2719Aspfs) | ||
| c.3662G>A (p.Cys1221Tyr) | ||
| c.3386G>A (p.Cys1129Tyr) | ||
| c.1585C>T (p.Arg529Ter) | ||
| c.3793T>C (p.Cys1265Arg) | ||
| c.2168A>C (p.Asp723Ala) | ||
| c.6431A>G (p.Asn2144Ser) | ||
| c.3725G>A (p.Cys1242Tyr) | ||
| c.3350G>A (p.Cys1117Tyr) | ||
| c.6662G>C (p.Cys2221Ser) | ||
| c.4987T>C (p.Cys1663Arg) | ||
| c.3746G>C (p.Cys1249Ser) | ||
| c.3037G>C (p.Gly1013Arg) | ||
| c.3668G>A (p.Cys1223Tyr) | ||
| c.3193delG (p.Glu1065Lysfs) | ||
| c.4460-8G>A | ||
| c.2433C>A (p.Cys811Ter) | ||
| c.510C>G (p.Tyr170Ter) | ||
| c.4467T>A (p.Asn1489Lys) | ||
| c.6700G>A (p.Val2234Met) | ||
| c.2055C>G (p.Cys685Trp) | ||
| c.4786C>T (p.Arg1596Ter) | ||
| c.6806T>C (p.Ile2269Thr) | ||
| See details | ||
| c.649T>G (p.Trp217Gly) | ||
| See details | ||
| c.3379G>A (p.Gly1127Ser) | ||
| c.7879G>A (p.Gly2627Arg) | ||
| c.364C>T (p.Arg122Cys) | ||
| c.4588C>T (p.Arg1530Cys) | ||
| c.3442C>G (p.Pro1148Ala) | ||
| c.1643A>T (p.Asn548Ile) | ||
| c.718C>T (p.Arg240Cys) | ||
| c.364C>T (p.Arg122Cys) | ||
| c.8176C>T (p.Arg2726Trp) | ||
| c.718C>T (p.Arg240Cys) | ||
| Metachromatic leukodystrophy | ARSA | c.413C>T (p.Pro138Leu) |
| c.263G>A (p.Gly88Asp) | ||
| c.931G>A (p.Gly311Ser) | ||
| c.*96A>G | ||
| F398del | ||
| c.506C>G (p.Pro169Arg) | ||
| c.467G>A (p.Gly156Asp) | ||
| c.370G>A (p.Gly124Ser) | ||
| c.1229C>T (p.Thr410Ile) | ||
| c.763G>A (p.Glu255Lys) | ||
| c.862A>C (p.Thr288Pro) | ||
| c.1232C>T (p.Thr411Ile) | ||
| c.1115G>A (p.Arg372Gln) | ||
| c.1114C>T (p.Arg372Trp) | ||
| c.1010A>T (p.Asp337Val) | ||
| c.890C>A (p.Ser297Tyr) | ||
| c.827C>T (p.Thr276Met) | ||
| c.739G>A (p.Gly247Arg) | ||
| c.257G>A (p.Arg86Gln) | ||
| c.1210+1G>A | ||
| c.293C>T (p.Ser98Phe) | ||
| c.302G>A (p.Gly101Asp) | ||
| c.769G>C (p.Asp257His) | ||
| c.739G>A (p.Gly247Arg) | ||
| c.542T>G (p.Ile181Ser) | ||
| c.465+1G>A | ||
| c.302G>A (p.Gly101Asp) | ||
| c.293C>T (p.Ser98Phe) | ||
| c.257G>A (p.Arg86Gln) | ||
| c.1407_1417delCGCAGCTGTGA (p.Asp469_Thr473delinsAspLeufs) | ||
| c.1283C>T (p.Pro428Leu) | ||
| c.1232C>T (p.Thr411Ile) | ||
| c.1210+1G>A | ||
| c.1178C>G (p.Thr393Ser) | ||
| c.1055A>G (p.Asn352Ser) | ||
| c.697C>A (p.Pro233Thr) | ||
| c.1279C>A (p.Pro427Thr) | ||
| c.410T>C (p.Leu137Pro) | ||
| c.1174C>T (p.Arg392Trp) | ||
| c.868C>T (p.Arg290Cys) | ||
| c.736C>T (p.Arg246Cys) | ||
| c.677C>T (p.Ala226Val) | ||
| c.292_293delTCinsCT (p.Ser98Leu) | ||
| c.899T>C (p.Leu300Ser) | ||
| c.883G>A (p.Gly295Ser) | ||
| c.737G>A (p.Arg246His) | ||
| c.542T>G (p.Ile181Ser) | ||
| c.542T>G (p.Ile181Ser) | ||
| c.905G>T (p.Cys302Phe) | ||
| c.641C>T (p.Ala214Val) | ||
| c.1283C>T (p.Pro428Leu) | ||
| c.1283C>T (p.Pro428Leu) | ||
| c.1283C>T (p.Pro428Leu) | ||
| c.1175G>A (p.Arg392Gln) | ||
| c.465+1G>A | ||
| c.465+1G>A | ||
| PSAP | c.722G>C (p.Cys241Ser) | |
| c.643A>C (p.Asn215His) | ||
| c.650C>T (p.Thr217Ile) | ||
| MICROCEPHALY | ASPM | c.9984+1G>T |
| c.9841A>T (p.Arg3281Ter) | ||
| c.9789T>A (p.Tyr3263Ter) | ||
| c.9754delA (p.Arg3252Glufs) | ||
| c.9745_9746delCT (p.Leu3249Leu=fs) | ||
| c.9730C>T (p.Arg3244Ter) | ||
| c.9697C>T (p.Arg3233Ter) | ||
| c.9686_9690delTTAAA (p.Ile3229_Lys3230delinsSerfs) | ||
| c.9681delA (p.Thr3227Thr=fs) | ||
| c.9677_9678insG (p.Cys3226delinsTrpTyrfs) | ||
| c.9595A>T (p.Lys3199Ter) | ||
| c.9557C>G (p.Ser3186Ter) | ||
| c.9539A>C (p.Gln3180Pro) | ||
| c.9507delG (p.Lys3169Lys=fs) | ||
| c.9492T>G (p.Tyr3164Ter) | ||
| c.9319C>T (p.Arg3107Ter) | ||
| c.9238A>T (p.Lys3080Ter) | ||
| c.9190C>T (p.Arg3064Ter) | ||
| c.9118_9119insCATT (p.Tyr3040delinsSerLeuTerfs) | ||
| c.8844delC (p.Ala2948Ala=fs) | ||
| c.8668C>T (p.Gln2890Ter) | ||
| c.8508_8509delGA (p.Gln2836_Lys2837delinsGlnMetfs) | ||
| c.8378delT (p.Met2793Argfs) | ||
| c.8273T>A (p.Leu2758Ter) | ||
| c.8190_8191delAG (p.Thr2730_Glu2731delinsThrLysfs) | ||
| c.8130_8131delAA (p.Thr2710_Lys2711delinsThrGlufs) | ||
| c.7894C>T (p.Gln2632Ter) | ||
| c.7859_7860delAG (p.Gln2620Hisfs) | ||
| c.77delG (p.Gly26Alafs) | ||
| c.7782_7783delGA (p.Gln2594_Lys2595delinsGlnSerfs) | ||
| c.74delG (p.Arg25Arg=fs) | ||
| c.7489_7493delTATAT (p.Tyr2497_Ile2498delinsTyrfs) | ||
| c.6732delA (p.Ile2244Ile=fs) | ||
| c.6651_6654delAACA (p.Lys2217_Thr2218delinsLysfs) | ||
| c.6335_6336delAT (p.His2112His=fs) | ||
| c.6232C>T (p.Arg2078Ter) | ||
| c.577C>T (p.Gln193Ter) | ||
| c.5149delA (p.Ile1717Terfs) | ||
| c.5136C>A (p.Tyr1712Ter) | ||
| c.4855_4856delTA (p.Tyr1619Tyr=fs) | ||
| c.4795C>T (p.Arg1599Ter) | ||
| c.4581delA (p.Gly1527Gly=fs) | ||
| c.440delA (p.Lys147Argfs) | ||
| c.4074G>A (p.Trp1358Ter) | ||
| c.3811C>T (p.Arg1271Ter) | ||
| c.3796G>T (p.Glu1266Ter) | ||
| c.3741+1G>A | ||
| c.3710C>G (p.Ser1237Ter) | ||
| c.3663delG (p.Arg1221Serfs) | ||
| c.3527C>G (p.Ser1176Ter) | ||
| c.3477_3481delCGCTA (p.Asp1159_Ile1161delinsAspMetfs) | ||
| c.3188T>G (p.Leu1063Ter) | ||
| c.3082G>A (p.Gly1028Arg) | ||
| c.3055C>T (p.Arg1019Ter) | ||
| c.2967G>A (p.Trp989Ter) | ||
| c.2938C>T (p.Arg980Ter) | ||
| c.2936+5G>T | ||
| c.2761-25A>G | ||
| c.1990C>T (p.Gln664Ter) | ||
| c.1959_1962delCAAA (p.Asn653_Lys654delinsLysfs) | ||
| c.1727_1728delAG (p.Lys576Lys=fs) | ||
| c.1631_1635delATCTT (p.Tyr544_Leu545delinsSerfs) | ||
| c.1628_1632delCTTAT (p.Ser543_Tyr544delinsSerfs) | ||
| c.1590delA (p.Lys530Lys=fs) | ||
| c.1406_1413delATCCTAAA (p.Asn469_Lys471delinsIlefs) | ||
| c.1366G>T (p.Glu456Ter) | ||
| c.1260_1266delTCAAGTC (p.Ser420_Val422delinsSerfs) | ||
| c.1179delT (p.Pro393Pro=fs) | ||
| c.1152_1153delAG (p.Ser384_Glu385delinsSerValfs) | ||
| c.10059C>A (p.Tyr3353Ter) | ||
| c.1002delA (p.Leu334Leu=fs) | ||
| c.6189T>G (p.Tyr2063Ter) | ||
| c.349C>T (p.Arg117Ter) | ||
| c.3978G>A (p.Trp1326Ter) | ||
| c.9178C>T (p.Gln3060Ter) | ||
| c.9159delA (p.Lys3053Asnfs) | ||
| c.7761T>G (p.Tyr2587Ter) | ||
| c.1258_1264delTCTCAAG (p.Ser420_Val422delinsSerfs) | ||
| c.719_720delCT (p.Ser240Cysfs) | ||
| c.2389C>T (p.Arg797Ter) | ||
| c.4195dupA (p.Thr1399delinsAsnAsnfs) | ||
| mucopolysaccharidosis type I | IDUA | c.1091C>T (p.Thr364Met) |
| c.1855C>G (p.Arg619Gly) | ||
| c.1469T>C (p.Leu490Pro) | ||
| c.1475G>C (p.Arg492Pro) | ||
| c.1861C>T (p.Arg621Ter) | ||
| c.1037T>G (p.Leu346Arg) | ||
| c.1037T>G (p.Leu346Arg) | ||
| c.266G>A (p.Arg89Gln) | ||
| c.1960T>G (p.Ter654Gly) | ||
| Multiple endocrine neoplasia type 1 | MEN1 | E363del |
| K119del | ||
| c.659_667delTGGCTGAGCinsGCCCCT (p.Val220_Arg223delinsGlyProTrp) | ||
| c.480_481insAATT (p.Ser160_Gly161delinsSerAsnTrpCysfs) | ||
| c.417C>G (p.His139Gln) | ||
| c.252dupT (p.Ser84delinsSerTyrfs) | ||
| c.119_124delTGCTGG (p.Val40_Gly42delinsGly) | ||
| c.1078delC (p.Arg360Glyfs) | ||
| c.1028dupT (p.Leu343delinsLeuAlafs) | ||
| c.1077C>A (p.Cys359Ter) | ||
| c.415C>G (p.His139Asp) | ||
| c.793C>T (p.Gln265Ter) | ||
| c.1594C>T (p.Arg532Ter) | ||
| c.1322G>A (p.Trp441Ter) | ||
| c.1321T>A (p.Trp441Arg) | ||
| c.608G>A (p.Trp203Ter) | ||
| c.402delC (p.Phe134Leufs) | ||
| c.65T>G (p.Leu22Arg) | ||
| c.1393C>T (p.Arg465Ter) | ||
| c.1A>G (p.Met1Val) | ||
| c.1277G>A (p.Cys426Tyr) | ||
| c.1189dupG (p.Glu397delinsGlyAlafs) | ||
| c.970dupT (p.Tyr324delinsLeuProfs) | ||
| c.773C>A (p.Ser258Ter) | ||
| c.951C>G (p.Tyr317Ter) | ||
| c.211_212delCC (p.Pro71Alafs) | ||
| c.518T>C (p.Leu173Pro) | ||
| RET | c.1860C>G (p.Cys620Trp) | |
| c.1826G>A (p.Cys609Tyr) | ||
| c.2080C>T (p.Arg694Trp) | ||
| c.2647_2648delGCinsTT (p.Ala883Phe) | ||
| c.1900_1908dupTGCCGCACG (p.Cys634_Thr636delinsCysArgThrCysArgThr) | ||
| c.1892_1903dupACGAGCTGTGCC (p.Asp631_Arg635delinsAspGluLeuCysHisGluLeuCysArg) | ||
| c.1901_1902delGCinsTG (p.Cys634Leu) | ||
| c.1891_1893delGAC (p.Asp631del) | ||
| c.1826G>C (p.Cys609Ser) | ||
| c.1825T>G (p.Cys609Gly) | ||
| c.1859G>A (p.Cys620Tyr) | ||
| c.1858T>C (p.Cys620Arg) | ||
| c.2370G>C (p.Leu790Phe) | ||
| c.1833C>G (p.Cys611Trp) | ||
| c.2671T>G (p.Ser891Ala) | ||
| c.1942G>A (p.Val648Ile) | ||
| c.1859G>T (p.Cys620Phe) | ||
| c.1902C>G (p.Cys634Trp) | ||
| c.1853G>C (p.Cys618Ser) | ||
| c.1891G>T (p.Asp631Tyr) | ||
| c.874G>A (p.Val292Met) | ||
| c.1901G>T (p.Cys634Phe) | ||
| c.1901G>C (p.Cys634Ser) | ||
| c.1900T>G (p.Cys634Gly) | ||
| c.1900T>C (p.Cys634Arg) | ||
| c.2753T>C (p.Met918Thr) | ||
| c.1896G>C (p.Glu632Asp) | ||
| c.2410G>A (p.Val804Met) | ||
| c.1852T>G (p.Cys618Gly) | ||
| c.1901G>A (p.Cys634Tyr) | ||
| CDKN1B | c.227G>A (p.Trp76Ter | |
| multiple epiphyseal dysplasia | COMP | c.1024G>T (p.Asp342Tyr) |
| c.1358A>G (p.Asn453Ser) | ||
| c.1569C>G (p.Asn523Lys) | ||
| c.2153G>C (p.Arg718Pro) | ||
| c.2042C>G (p.Ser681Cys) | ||
| c.1813G>A (p.Asp605Asn) | ||
| c.1754C>T (p.Thr585Met) | ||
| c.1754C>G (p.Thr585Arg) | ||
| c.1665C>A (p.Asn555Lys) | ||
| c.1156_1158delAAC (p.Asn386del) | ||
| c.1417_1419dupGAC (p.Asp473dup) | ||
| c.2152C>T (p.Arg718Trp) | ||
| MATN3 | c.209G>A (p.Arg70His) | |
| c.359C>T (p.Thr120Met) | ||
| c.209G>A (p.Arg70His) | ||
| c.656C>A (p.Ala219Asp) | ||
| c.581T>A (p.Val194Asp) | ||
| c.382G>C (p.Ala128Pro) | ||
| c.361C>T (p.Arg121Trp) | ||
| Nail-Patella syndrome | LMX1B | c.745C>T (p.Arg249Ter) |
| c.668G>A (p.Arg223Gln) | ||
| c.691C>T (p.Arg231Ter) | ||
| c.244C>T (p.Gln82Ter) | ||
| c.353G>T (p.Cys118Phe) | ||
| c.661C>T (p.Arg221Ter) | ||
| c.807C>A (p.Asn269Lys) | ||
| Neurofibromatosis I | NF1 | c.2531T>G (p.Leu844Arg) |
| c.5710G>T (p.Glu1904Ter) | ||
| c.3728T>C (p.Leu1243Pro) | ||
| c.5406_5407insT (p.Ser1802_Ile1803delinsSerTyrHisfs) | ||
| c.4021C>T (p.Gln1341Ter) | ||
| c.1260+1G>A | ||
| c.1466A>G (p.Tyr489Cys) | ||
| c.3827G>C (p.Arg1276Pro) | ||
| c.4173A>T (p.Arg1391Ser) | ||
| c.3104T>G (p.Met1035Arg) | ||
| c.1541_1542delAG (p.Gln514Argfs) | ||
| c.3113+1G>A | ||
| c.4084C>T (p.Arg1362Ter) | ||
| c.6511T>A (p.Tyr2171Asn) | ||
| c.6427C>A (p.Leu2143Met) | ||
| c.5465_5466insT (p.Thr1822delinsThrGlnfs) | ||
| c.5448dupC (p.Asp1816delinsAspLeufs) | ||
| c.574C>T (p.Arg192Ter) | ||
| c.3721C>T (p.Arg1241Ter) | ||
| c.5944-5A>G | ||
| c.1523T>C (p.Leu508Pro) | ||
| c.4267A>G (p.Lys1423Glu) | ||
| c.5845A>T (p.Arg1949Ter) | ||
| c.5795T>C (p.Leu1932Pro) | ||
| c.1070T>C (p.Leu357Pro) | ||
| c.5839C>T (p.Arg1947Ter) | ||
| c.4095_4096insTG (p.Cys1365_His1366delinsCysCysThrfs) | ||
| c.4312_4314delGAA (p.Glu1438del) | ||
| c.6200T>C (p.Leu2067Pro) | ||
| c.4614G>A (p.Trp1538Ter) | ||
| c.8042dupA (p.Tyr2681delinsTerProfs) | ||
| c.7126+3A>C | ||
| c.5944-5A>G | ||
| c.1642-8A>G | ||
| c.1070T>C (p.Leu357Pro) | ||
| c.4168C>T (p.Leu1390Phe) | ||
| c.945_946delGCinsAA (p.Gln315_Leu316delinsGlnMet) | ||
| c.2970_2972delAAT (p.Thr990_Met991delinsThr) | ||
| c.2970_2972delAAT (p.Thr990_Met991delinsThr) | ||
| Neurofibromatosis II | NF2 | c.1579G>T (p.Glu527Ter) |
| c.1396C>T (p.Arg466Ter) | ||
| c.1387G>T (p.Glu463Ter) | ||
| c.1219C>T (p.Gln407Ter) | ||
| c.1021C>T (p.Arg341Ter) | ||
| c.958C>T (p.Gln320Ter) | ||
| c.784C>T (p.Arg262Ter) | ||
| c.544G>T (p.Glu182Ter) | ||
| c.286_288delTTC (p.Phe96del) | ||
| c.1613A>C (p.Gln538Pro) | ||
| c.1604T>C (p.Leu535Pro) | ||
| c.1079T>C (p.Leu360Pro) | ||
| c.185T>C (p.Phe62Ser) | ||
| NEUROMUSCULAR DISORDERS-CONGENITAL MUSCULAR DYSTROPHIES | ACTA1 | c.1007A>C (p.Glu336Ala) |
| c.7G>T (p.Asp3Tyr) | ||
| c.727G>A (p.Glu243Lys) | ||
| c.621G>C (p.Glu207Asp) | ||
| c.16G>A (p.Glu6Lys) | ||
| c.143G>A (p.Gly48Asp) | ||
| c.49G>C (p.Gly17Arg) | ||
| c.984G>C (p.Lys328Asn) | ||
| c.1000C>T (p.Pro334Ser) | ||
| c.668T>C (p.Leu223Pro) | ||
| c.414C>G (p.Ile138Met) | ||
| c.808G>T (p.Gly270Cys) | ||
| c.1075A>C (p.Ile359Leu) | ||
| c.782A>T (p.Glu261Val) | ||
| c.287T>C (p.Leu96Pro) | ||
| c.881A>T (p.Asp294Val) | ||
| c.493G>T (p.Val165Leu) | ||
| c.350A>G (p.Asn117Ser) | ||
| c.493G>A (p.Val165Met) | ||
| c.222G>T (p.Glu74Asp) | ||
| AMPD1 | c.959A>T (p.Lys320Ile) | |
| c.242C>T (p.Pro81Leu) | ||
| c.133C>T (p.Gln45Ter) | ||
| c.1029G>T (p.Met343Ile) | ||
| c.314+10G>A | ||
| c.2046T>C (p.Asp682=) | ||
| c.1323+8G>A | ||
| c.1373G>A (p.Arg458His) | ||
| c.133C>T (p.Gln45Ter) | ||
| c.1261C>T (p.Arg421Trp) | ||
| c.134-7_134-4delCTTT | ||
| ANO5 | c.989dupT (p.Leu330Phefs) | |
| c.692G>T (p.Gly231Val) | ||
| c.41-1G>A | ||
| c.191dupA (p.Asn64delinsLysSerfs) | ||
| c.1295C>G (p.Ala432Gly) | ||
| c.1541C>T (p.Thr514Ile) | ||
| c.1407+5G>A | ||
| c.1066T>G (p.Cys356Gly) | ||
| c.2272C>T (p.Arg758Cys) | ||
| c.692G>T (p.Gly231Val) | ||
| c.2311_2312delCA (p.Gln771Alafs) | ||
| c.1066T>C (p.Cys356Arg) | ||
| c.2272C>T (p.Arg758Cys) | ||
| c.1295C>G (p.Ala432Gly) | ||
| c.191dupA (p.Asn64delinsLysSerfs) | ||
| CAPN3 | c.1080G>C (p.Trp360Cys) | |
| c.855_864dupGTTGATTGCA (p.Arg289Valfs) | ||
| c.580delT (p.Ser194Profs) | ||
| c.550delA (p.Thr184Argfs) | ||
| c.2251_2254dupGTCA (p.Asn752Serfs) | ||
| c.223dupT (p.Tyr75Leufs) | ||
| c.2362_2363delAGinsTCATCT (p.Arg788delinsSerSerAlafs) | ||
| c.2306G>A (p.Arg769Gln) | ||
| c.946-1G>A | ||
| c.2306G>A (p.Arg769Gln) | ||
| c.1469G>A (p.Arg490Gln) | ||
| c.956C>T (p.Pro319Leu) | ||
| c.257C>T (p.Ser86Phe) | ||
| c.328C>T (p.Arg110Ter) | ||
| c.1715G>A (p.Arg572Gln) | ||
| c.1795_1796insA (p.Thr599delinsAsnGlnfs) | ||
| c.550delA (p.Thr184Argfs) | ||
| c.2362_2363delAGinsTCATCT (p.Arg788delinsSerSerAlafs) | ||
| CAV3 | c.290_292del (p.Phe97_Cys98?fs) | |
| c.99C>G (p.Asn33Lys) | ||
| c.290_292del (p.Phe97_Cys98?fs) | ||
| c.166G>A (p.Gly56Ser) | ||
| c.139G>A (p.Glu47Lys) | ||
| c.191C>G (p.Thr64Ser) | ||
| c.260T>C (p.Leu87Pro) | ||
| c.236T>G (p.Leu79Arg) | ||
| c.40G>C (p.Val14Leu) | ||
| c.253G>A (p.Ala85Thr) | ||
| c.423C>G (p.Ser141Arg) | ||
| c.137C>T (p.Ala46Val) | ||
| c.86C>T (p.Pro29Leu) | ||
| c.84C>A (p.Asp28Glu) | ||
| c.189_197del (p.Thr64_Thr66del) | ||
| c.314C>T (p.Pro105Leu) | ||
| c.277G>A (p.Ala93Thr) | ||
| c.84C>A (p.Asp28Glu) | ||
| c.314C>T (p.Pro105Leu) | ||
| c.233C>T (p.Thr78Met) | ||
| c.136G>A (p.Ala46Thr) | ||
| c.80G>A (p.Arg27Gln) | ||
| C72W | ||
| c.2738C>T (p.Ala913Val) | ||
| COL6A1 | c.841G>A (p.Gly281Arg) | |
| c.896G>A (p.Gly299Glu) | ||
| c.877G>A (p.Gly293Arg) | ||
| c.868G>A (p.Gly290Arg) | ||
| c.850G>A (p.Gly284Arg) | ||
| c.805-2A>G | ||
| c.362A>G (p.Lys121Arg) | ||
| c.1056+1G>A | ||
| c.1977C>G (p.Tyr659Ter) | ||
| c.868G>C (p.Gly290Arg) | ||
| c.850G>A (p.Gly284Arg) | ||
| c.362A>G (p.Lys121Arg) | ||
| c.1022G>A (p.Gly341Asp) | ||
| c.1577G>T (p.Gly526Val) | ||
| COL6A2 | c.1493G>A (p.Arg498His) | |
| c.855+2T>G | ||
| c.1522-1G>A | ||
| c.1461delA (p.Ser488Leufs) | ||
| c.803G>A (p.Gly268Asp) | ||
| c.2611G>A (p.Asp871Asn) | ||
| c.1096C>T (p.Arg366Ter) | ||
| c.847G>A (p.Gly283Arg) | ||
| c.2329T>C (p.Cys777Arg) | ||
| c.1855_1860delGTCATC (p.Val619_Ile620del) | ||
| c.2626C>A (p.Arg876Ser) | ||
| c.1870G>A (p.Glu624Lys) | ||
| c.2455C>T (p.Gln819Ter) | ||
| c.2455C>T (p.Gln819Ter) | ||
| c.2795C>T (p.Pro932Leu) | ||
| c.811G>A (p.Gly271Ser) | ||
| c.1861G>A (p.Asp621Asn) | ||
| c.2489G>A (p.Arg830Gln) | ||
| c.841G>A (p.Gly281Arg) | ||
| COL6A3 | IVS15DS, GT-TC, +1 | |
| c.6282+1G>A | ||
| c.6210+1G>A | ||
| c.175C>T (p.Arg59Ter) | ||
| c.1393C>T (p.Arg465Ter) | ||
| c.5177T>G (p.Leu1726Arg) | ||
| c.5036G>A (p.Gly1679Glu) | ||
| DES | GLU359-ALA360-SER361 DEL | |
| c.1289-2A>G | ||
| c.735+1G>A | ||
| c.1325C>T (p.Thr442Ile) | ||
| c.1096_1098delAAC (p.Asn366del) | ||
| c.1166A>C (p.Gln389Pro) | ||
| c.1154T>C (p.Leu385Pro) | ||
| c.1216C>T (p.Arg406Trp) | ||
| c.1353C>G (p.Ile451Met) | ||
| c.1178A>T (p.Asn393Ile) | ||
| c.38C>T (p.Ser13Phe) | ||
| c.1255C>T (p.Pro419Ser) | ||
| c.1034T>C (p.Leu345Pro) | ||
| c.1078G>C (p.Ala360Pro) | ||
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