NM_000363.5(TNNI3):c.422G>A (p.Arg141Gln)
|
rs397516347
|
0.00004
|
NM_004373.4(COX6A1):c.103+1G>C
|
rs377504835
|
0.00004
|
NM_000257.4(MYH7):c.1000-1G>A
|
rs113392527
|
0.00003
|
NM_001372.4(DNAH9):c.5651G>C (p.Gly1884Ala)
|
rs577054880
|
0.00003
|
NM_000335.5(SCN5A):c.4744C>T (p.Arg1582Cys)
|
rs45514691
|
0.00001
|
NM_000478.6(ALPL):c.1454C>T (p.Ala485Val)
|
rs886044912
|
0.00001
|
NM_000478.6(ALPL):c.283G>A (p.Val95Met)
|
rs139811782
|
0.00001
|
NM_000540.3(RYR1):c.4160+1G>A
|
rs113460156
|
0.00001
|
NM_001130987.2(DYSF):c.3931C>T (p.Gln1311Ter)
|
rs1324430830
|
0.00001
|
46,Y,inv(X)(p21.1q13.3)
|
|
|
NC_000023.11:g.32644161_32644191delins32644164_32644199inv
|
|
|
NM_000023.4(SGCA):c.186C>A (p.Tyr62Ter)
|
|
|
NM_000059.4(BRCA2):c.6841+2T>G
|
rs1593909960
|
|
NM_000062.3(SERPING1):c.1475T>C (p.Met492Thr)
|
rs978962357
|
|
NM_000062.3(SERPING1):c.51+1del
|
rs1590821401
|
|
NM_000095.3(COMP):c.1501G>A (p.Gly501Ser)
|
rs2145900523
|
|
NM_000138.5(FBN1):c.7774T>G (p.Cys2592Gly)
|
rs1597512636
|
|
NM_000166.6(GJB1):c.218A>G (p.His73Arg)
|
rs748384293
|
|
NM_000166.6(GJB1):c.318dup (p.Arg107fs)
|
rs2147945859
|
|
NM_000166.6(GJB1):c.455T>C (p.Val152Ala)
|
|
|
NM_000166.6(GJB1):c.577T>C (p.Phe193Leu)
|
|
|
NM_000218.3(KCNQ1):c.785T>C (p.Leu262Pro)
|
rs1564821090
|
|
NM_000238.4(KCNH2):c.1128+1G>A
|
rs1405113457
|
|
NM_000251.3(MSH2):c.1313CTC[1] (p.Pro439del)
|
rs587779082
|
|
NM_000256.3(MYBPC3):c.1440_1441delinsC (p.Glu480fs)
|
rs1595846344
|
|
NM_000256.3(MYBPC3):c.1574_1580del (p.Tyr525fs)
|
rs2142860924
|
|
NM_000256.3(MYBPC3):c.2068-1G>A
|
rs2142857371
|
|
NM_000256.3(MYBPC3):c.2905+1G>T
|
|
|
NM_000256.3(MYBPC3):c.2994+1G>A
|
rs2095879885
|
|
NM_000257.4(MYH7):c.1572C>G (p.Ile524Met)
|
rs769484001
|
|
NM_000257.4(MYH7):c.5168TCA[1] (p.Ile1724del)
|
rs886044910
|
|
NM_000257.4(MYH7):c.578A>G (p.Gln193Arg)
|
|
|
NM_000304.4(PMP22):c.55dup (p.Leu19fs)
|
rs2150710134
|
|
NM_000363.5(TNNI3):c.577A>G (p.Lys193Glu)
|
rs730881080
|
|
NM_000426.4(LAMA2):c.1288G>T (p.Glu430Ter)
|
rs1583169151
|
|
NM_000426.4(LAMA2):c.2857-1G>A
|
rs2114450848
|
|
NM_000426.4(LAMA2):c.5460del (p.Val1821fs)
|
rs1562530132
|
|
NM_000478.6(ALPL):c.1451T>G (p.Met484Arg)
|
rs1558558939
|
|
NM_000478.6(ALPL):c.1558_1559del (p.Leu520fs)
|
rs1553415164
|
|
NM_000478.6(ALPL):c.876_882delinsT (p.Gly293_Asp294del)
|
rs1553414078
|
|
NM_000530.8(MPZ):c.178G>A (p.Asp60Asn)
|
|
|
NM_000530.8(MPZ):c.646-2A>C
|
rs1670228122
|
|
NM_000530.8(MPZ):c.73_74delinsA (p.Ser25fs)
|
|
|
NM_000533.5(PLP1):c.25A>T (p.Arg9Ter)
|
rs2074488502
|
|
NM_000540.3(RYR1):c.14438A>G (p.His4813Arg)
|
|
|
NM_000540.3(RYR1):c.1597C>A (p.Arg533Ser)
|
rs193922768
|
|
NM_001009944.3(PKD1):c.10619-1G>A
|
rs1567159074
|
|
NM_001009944.3(PKD1):c.7904dup (p.Arg2636fs)
|
rs1596536873
|
|
NM_001032221.6(STXBP1):c.1316TCA[1] (p.Ile440del)
|
rs1841769844
|
|
NM_001046.3(SLC12A2):c.2016_2017insTAA (p.Val673Ter)
|
rs1762648883
|
|
NM_001080517.3(SETD5):c.2182del (p.Asp728fs)
|
rs2125288982
|
|
NM_001127222.2(CACNA1A):c.1914-1G>A
|
rs2145002387
|
|
NM_001130438.3(SPTAN1):c.1347_1348del (p.Arg449fs)
|
rs1851867365
|
|
NM_001130987.2(DYSF):c.5842C>T (p.Gln1948Ter)
|
rs1573138313
|
|
NM_001134407.3(GRIN2A):c.1946T>G (p.Leu649Arg)
|
|
|
NM_001159699.2(FHL1):c.506G>T (p.Cys169Phe)
|
|
|
NM_001165963.4(SCN1A):c.2081C>A (p.Ser694Ter)
|
|
|
NM_001190274.2(FBXO11):c.617A>G (p.Tyr206Cys)
|
rs1672530798
|
|
NM_001204.7(BMPR2):c.2336C>G (p.Ser779Ter)
|
|
|
NM_001204.7(BMPR2):c.617T>A (p.Leu206Ter)
|
rs2106003241
|
|
NM_001267550.2(TTN):c.50723del (p.Lys16908fs)
|
|
|
NM_001267550.2(TTN):c.5383A>T (p.Lys1795Ter)
|
rs1574659116
|
|
NM_001267550.2(TTN):c.71083G>T (p.Glu23695Ter)
|
rs1575796530
|
|
NM_001267550.2(TTN):c.74080G>T (p.Glu24694Ter)
|
|
|
NM_001267550.2(TTN):c.79809dup (p.Val26604fs)
|
|
|
NM_001267550.2(TTN):c.87877del (p.Arg29293fs)
|
rs2154155591
|
|
NM_001277115.2(DNAH11):c.13346_13367del (p.Arg4449fs)
|
rs1257886811
|
|
NM_001277115.2(DNAH11):c.3253C>T (p.Gln1085Ter)
|
rs1562691736
|
|
NM_001369268.1(ACAN):c.6798_6799delinsTT (p.Glu2267Ter)
|
rs2141613985
|
|
NM_001372.4(DNAH9):c.308dup (p.Leu104fs)
|
rs769795916
|
|
NM_001378183.1(PIEZO2):c.410G>A (p.Trp137Ter)
|
rs2144788058
|
|
NM_001458.5(FLNC):c.2504dup (p.Pro836fs)
|
rs1554398705
|
|
NM_001458.5(FLNC):c.3307_3313del (p.Cys1103fs)
|
rs2128936386
|
|
NM_001458.5(FLNC):c.4702del (p.Asp1568fs)
|
|
|
NM_001458.5(FLNC):c.4861A>T (p.Ile1621Phe)
|
rs1808685364
|
|
NM_001458.5(FLNC):c.6031G>A (p.Gly2011Arg)
|
rs1554400962
|
|
NM_001848.3(COL6A1):c.1111G>A (p.Gly371Arg)
|
|
|
NM_001848.3(COL6A1):c.991_999del (p.328DGV[1])
|
|
|
NM_001849.4(COL6A2):c.963del (p.Gly322fs)
|
|
|
NM_002161.6(IARS1):c.578delinsTT (p.Glu193fs)
|
rs2133977803
|
|
NM_002335.4(LRP5):c.2090A>G (p.Lys697Arg)
|
rs1565083843
|
|
NM_002700.3(POU4F3):c.494_497del (p.His165fs)
|
|
|
NM_002739.5(PRKCG):c.450C>G (p.Cys150Trp)
|
rs1385053433
|
|
NM_003235.5(TG):c.5804del (p.Asn1935fs)
|
rs1587618417
|
|
NM_003244.4(TGIF1):c.16+1805del
|
|
|
NM_003280.3(TNNC1):c.130G>A (p.Val44Met)
|
rs1706339531
|
|
NM_003476.5(CSRP3):c.282-1G>A
|
|
|
NM_004006.3(DMD):c.10211del (p.Asp3404fs)
|
rs1114167437
|
|
NM_004006.3(DMD):c.1509del (p.Glu503fs)
|
rs2055460202
|
|
NM_004006.3(DMD):c.1812+601A>G
|
rs1603636710
|
|
NM_004006.3(DMD):c.3030_3031del (p.Pro1011fs)
|
rs2148460005
|
|
NM_004006.3(DMD):c.3276+2T>C
|
|
|
NM_004006.3(DMD):c.4071+1del
|
rs1114167439
|
|
NM_004006.3(DMD):c.5048del (p.Thr1683fs)
|
|
|
NM_004006.3(DMD):c.5060del (p.Asn1687fs)
|
|
|
NM_004006.3(DMD):c.5155-719_5155-31del
|
|
|
NM_004006.3(DMD):c.650-39498A>G
|
rs1556980528
|
|
NM_004006.3(DMD):c.9225-1G>C
|
|
|
NM_004006.3(DMD):c.9527A>G (p.Asp3176Gly)
|
rs886044916
|
|
NM_004369.4(COL6A3):c.6158G>A (p.Gly2053Asp)
|
|
|
NM_004370.6(COL12A1):c.9114dup (p.Gly3039fs)
|
rs1582025807
|
|
NM_004393.6(DAG1):c.839del (p.Pro280fs)
|
rs2107929323
|
|
NM_004415.4(DSP):c.7570_7573del (p.Thr2524fs)
|
rs1561703922
|
|
NM_004859.4(CLTC):c.3905_3911del (p.Met1302fs)
|
|
|
NM_005219.5(DIAPH1):c.3116dup (p.Asp1039fs)
|
rs2099887720
|
|
NM_005219.5(DIAPH1):c.3490C>T (p.Arg1164Ter)
|
rs753100456
|
|
NM_005340.7(HINT1):c.209A>G (p.Asp70Gly)
|
rs1561537267
|
|
NM_006009.4(TUBA1A):c.322T>C (p.Tyr108His)
|
rs2121246535
|
|
NM_006612.6(KIF1C):c.864+1G>A
|
rs1567721108
|
|
NM_007194.4(CHEK2):c.1504del (p.Glu502fs)
|
rs1601702086
|
|
NM_007289.4(MME):c.1892G>A (p.Trp631Ter)
|
|
|
NM_012309.5(SHANK2):c.2439+1G>A
|
rs2058899044
|
|
NM_013275.6(ANKRD11):c.4554del (p.Arg1519fs)
|
rs2034289118
|
|
NM_013275.6(ANKRD11):c.6349_6362del (p.Pro2117fs)
|
rs2151736830
|
|
NM_013296.5(GPSM2):c.1600+3A>C
|
|
|
NM_014332.3(SMPX):c.217del (p.Ile73fs)
|
|
|
NM_014846.4(WASHC5):c.1275dup (p.Glu426fs)
|
rs1816782806
|
|
NM_014946.4(SPAST):c.1272G>C (p.Arg424Ser)
|
|
|
NM_015295.3(SMCHD1):c.1286ATC[1] (p.His430del)
|
rs886044914
|
|
NM_015295.3(SMCHD1):c.261del (p.Phe87fs)
|
rs2143801614
|
|
NM_015295.3(SMCHD1):c.3529G>T (p.Asp1177Tyr)
|
rs1568280995
|
|
NM_015295.3(SMCHD1):c.3679G>C (p.Gly1227Arg)
|
rs1204021010
|
|
NM_015295.3(SMCHD1):c.3927+2dup
|
rs2075481193
|
|
NM_015295.3(SMCHD1):c.4966+5G>A
|
rs1598426626
|
|
NM_015295.3(SMCHD1):c.790G>A (p.Glu264Lys)
|
rs867104086
|
|
NM_016030.6(TRAPPC12):c.361G>T (p.Glu121Ter)
|
rs371884821
|
|
NM_016648.4(LARP7):c.1669-1_1671del
|
rs778909076
|
|
NM_017534.6(MYH2):c.3768del (p.Thr1257fs)
|
rs2073373034
|
|
NM_017534.6(MYH2):c.5510dup (p.Arg1838fs)
|
rs1297291974
|
|
NM_020247.5(COQ8A):c.850C>T (p.Gln284Ter)
|
rs959109094
|
|
NM_020451.3(SELENON):c.872+1G>A
|
rs2047936719
|
|
NM_021083.4(XK):c.771G>A (p.Trp257Ter)
|
|
|
NM_021971.4(GMPPB):c.358A>G (p.Met120Val)
|
rs1559697515
|
|
NM_022041.4(GAN):c.141C>G (p.Ile47Met)
|
rs373819552
|
|
NM_022552.5(DNMT3A):c.427C>T (p.Arg143Ter)
|
rs1352259738
|
|
NM_032588.4(TRIM63):c.739C>T (p.Gln247Ter)
|
rs148395034
|
|
NM_032930.3(CFAP300):c.175A>T (p.Lys59Ter)
|
|
|
NM_152515.5(CKAP2L):c.1463_1467del (p.Thr488fs)
|
rs751000250
|
|
NM_153816.6(SNX14):c.867+1G>T
|
rs1786449736
|
|
NM_170707.4(LMNA):c.1158-9_1173del
|
rs1651596554
|
|
NM_170707.4(LMNA):c.555_556del (p.Asp185fs)
|
rs1572358674
|
|
NM_197968.4(ZMYM2):c.3411T>G (p.Tyr1137Ter)
|
rs765831882
|
|
NM_207037.2(TCF12):c.1467+1G>C
|
rs1566992093
|
|
NM_213599.3(ANO5):c.364-2A>G
|
rs776474397
|
|
NM_213599.3(ANO5):c.758A>C (p.His253Pro)
|
rs886044915
|
|