|
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln)
|
rs115407852
|
0.00019
|
|
NM_000256.3(MYBPC3):c.557C>T (p.Pro186Leu)
|
rs727503216
|
0.00004
|
|
NM_001134363.3(RBM20):c.1244G>A (p.Ser415Asn)
|
rs748133931
|
0.00004
|
|
NM_001927.4(DES):c.662C>T (p.Ala221Val)
|
rs746814065
|
0.00004
|
|
NM_002471.4(MYH6):c.2540C>T (p.Thr847Met)
|
rs759408374
|
0.00003
|
|
NM_000257.4(MYH7):c.1856C>T (p.Thr619Ile)
|
rs541143322
|
0.00002
|
|
NM_001005242.3(PKP2):c.1481G>A (p.Trp494Ter)
|
rs193922672
|
0.00002
|
|
NM_000256.3(MYBPC3):c.3642G>A (p.Trp1214Ter)
|
rs368765949
|
0.00001
|
|
NM_000257.4(MYH7):c.541G>A (p.Gly181Arg)
|
rs760187215
|
0.00001
|
|
NM_001267550.2(TTN):c.101107C>T (p.Arg33703Ter)
|
rs766265889
|
0.00001
|
|
NM_016599.5(MYOZ2):c.343C>T (p.Arg115Ter)
|
rs374655743
|
0.00001
|
|
NM_000117.3(EMD):c.605C>T (p.Thr202Ile)
|
|
|
|
NM_000256.3(MYBPC3):c.2217G>A (p.Glu739=)
|
rs786204348
|
|
|
NM_000256.3(MYBPC3):c.2893C>T (p.Gln965Ter)
|
rs730880578
|
|
|
NM_000256.3(MYBPC3):c.93C>A (p.Ala31=)
|
|
|
|
NM_000257.4(MYH7):c.1189A>G (p.Lys397Glu)
|
rs1566535410
|
|
|
NM_000257.4(MYH7):c.1255C>A (p.Gln419Lys)
|
rs1566535300
|
|
|
NM_000257.4(MYH7):c.2282C>T (p.Thr761Ile)
|
|
|
|
NM_000257.4(MYH7):c.2563_2656del (p.Glu855fs)
|
rs1892625481
|
|
|
NM_000257.4(MYH7):c.4045G>A (p.Glu1349Lys)
|
rs1566526272
|
|
|
NM_000257.4(MYH7):c.5655+5G>C
|
rs1595070689
|
|
|
NM_001005242.3(PKP2):c.1391_1406del (p.Asn464fs)
|
rs2137830958
|
|
|
NM_001005242.3(PKP2):c.336+1G>T
|
rs2137952423
|
|
|
NM_001005242.3(PKP2):c.962_965del (p.Val321fs)
|
rs2137946218
|
|
|
NM_001010985.3(MYBPHL):c.602G>A (p.Arg201His)
|
|
|
|
NM_001018005.2(TPM1):c.292G>A (p.Glu98Lys)
|
rs730881131
|
|
|
NM_001018005.2(TPM1):c.656A>T (p.Asp219Val)
|
|
|
|
NM_001148.6(ANK2):c.2920G>T (p.Val974Leu)
|
|
|
|
NM_001194.4(HCN2):c.449G>T (p.Gly150Val)
|
|
|
|
NM_001276345.2(TNNT2):c.548G>T (p.Arg183Leu)
|
rs397516471
|
|
|
NM_001458.5(FLNC):c.5199+1G>A
|
|
|
|
NM_001927.4(DES):c.1009G>C (p.Ala337Pro)
|
rs59962885
|
|
|
NM_001927.4(DES):c.336_344del (p.Gln113_Leu115del)
|
rs1553603239
|
|
|
NM_001943.5(DSG2):c.146G>A (p.Arg49His)
|
rs121913006
|
|
|
NM_001943.5(DSG2):c.523+1G>A
|
rs553299589
|
|
|
NM_003476.5(CSRP3):c.357G>T (p.Lys119Asn)
|
|
|
|
NM_003476.5(CSRP3):c.372C>T (p.Gly124=)
|
|
|
|
NM_003737.4(DCHS1):c.2684C>T (p.Pro895Leu)
|
|
|
|
NM_004006.3(DMD):c.8800G>T (p.Glu2934Ter)
|
rs1603222556
|
|
|
NM_004281.4(BAG3):c.634C>A (p.His212Asn)
|
rs752772180
|
|
|
NM_004415.4(DSP):c.1141-2A>G
|
rs794728111
|
|
|
NM_004415.4(DSP):c.4018C>T (p.Arg1340Cys)
|
rs768628788
|
|
|
NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter)
|
rs770873593
|
|
|
NM_005061.3(RPL3L):c.829C>T (p.Arg277Cys)
|
|
|
|
NM_006393.3(NEBL):c.1253del (p.Asn418fs)
|
rs768079285
|
|
|
NM_006912.6(RIT1):c.242A>G (p.Glu81Gly)
|
rs869025193
|
|
|
NM_006912.6(RIT1):c.246T>G (p.Phe82Leu)
|
rs730881014
|
|
|
NM_020778.5(ALPK3):c.4689G>A (p.Trp1563Ter)
|
|
|
|
NM_170707.4(LMNA):c.1116G>C (p.Glu372Asp)
|
rs1553265736
|
|
|
NM_170707.4(LMNA):c.250G>A (p.Glu84Lys)
|
rs794728602
|
|
|
NM_170707.4(LMNA):c.513+45T>G
|
rs878853220
|
|