NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly)
|
rs28763965
|
0.00131
|
NM_032578.4(MYPN):c.3481C>A (p.Leu1161Ile)
|
rs138313730
|
0.00123
|
NM_007078.3(LDB3):c.1535A>C (p.Gln512Pro)
|
rs138951890
|
0.00080
|
NM_000335.5(SCN5A):c.659C>T (p.Thr220Ile)
|
rs45620037
|
0.00068
|
NM_014000.3(VCL):c.1555A>C (p.Ile519Leu)
|
rs141033098
|
0.00064
|
NM_001943.5(DSG2):c.44T>A (p.Leu15Gln)
|
rs372174546
|
0.00054
|
NM_000335.5(SCN5A):c.3875T>C (p.Phe1292Ser)
|
rs41311127
|
0.00048
|
NM_000335.5(SCN5A):c.2944T>C (p.Cys982Arg)
|
rs199473182
|
0.00034
|
NM_002471.4(MYH6):c.4505G>A (p.Arg1502Gln)
|
rs199936506
|
0.00022
|
NM_004006.3(DMD):c.6571C>T (p.Arg2191Trp)
|
rs149322279
|
0.00020
|
NM_002471.4(MYH6):c.824T>A (p.Ile275Asn)
|
rs201327273
|
0.00019
|
NM_002880.4(RAF1):c.122G>A (p.Arg41Gln)
|
rs145611571
|
0.00016
|
NM_007078.3(LDB3):c.1253C>G (p.Pro418Arg)
|
rs141870580
|
0.00013
|
NM_014000.3(VCL):c.2827C>G (p.Pro943Ala)
|
rs71579375
|
0.00013
|
NM_001134363.3(RBM20):c.544C>A (p.Pro182Thr)
|
rs397516622
|
0.00011
|
NM_004415.4(DSP):c.5744G>A (p.Arg1915His)
|
rs146617683
|
0.00011
|
NM_014000.3(VCL):c.829C>A (p.Leu277Met)
|
rs71579353
|
0.00010
|
NM_024422.6(DSC2):c.82G>T (p.Ala28Ser)
|
rs139979318
|
0.00009
|
NM_001134363.3(RBM20):c.3616G>A (p.Glu1206Lys)
|
rs757389650
|
0.00008
|
NM_014000.3(VCL):c.1621C>G (p.Leu541Val)
|
rs370229150
|
0.00008
|
NM_004281.4(BAG3):c.487C>T (p.Pro163Ser)
|
rs746956979
|
0.00006
|
NM_032578.4(MYPN):c.2540G>T (p.Gly847Val)
|
rs181848049
|
0.00006
|
NM_001368067.1(LDB3):c.370C>A (p.Pro124Thr)
|
rs755513516
|
0.00005
|
NM_000256.3(MYBPC3):c.956A>C (p.Glu319Ala)
|
rs545675333
|
0.00004
|
NM_001005242.3(PKP2):c.464G>C (p.Ser155Thr)
|
rs141438322
|
0.00004
|
NM_001368067.1(LDB3):c.802C>T (p.Arg268Cys)
|
rs121908335
|
0.00004
|
NM_001035.3(RYR2):c.5278C>T (p.Arg1760Trp)
|
rs776550479
|
0.00003
|
NM_002471.4(MYH6):c.1108C>T (p.Arg370Trp)
|
rs753444140
|
0.00003
|
NM_007078.3(LDB3):c.1696A>G (p.Met566Val)
|
rs775232208
|
0.00002
|
NM_020297.4(ABCC9):c.1859G>A (p.Arg620Gln)
|
rs139539832
|
0.00002
|
NM_000256.3(MYBPC3):c.436A>C (p.Thr146Pro)
|
rs397516048
|
0.00001
|
NM_001103.4(ACTN2):c.2596A>T (p.Met866Leu)
|
rs1395445136
|
0.00001
|
NM_001134363.3(RBM20):c.1973C>G (p.Ser658Cys)
|
rs397516598
|
0.00001
|
NM_001134363.3(RBM20):c.3452G>C (p.Gly1151Ala)
|
rs1185476843
|
0.00001
|
NM_004281.4(BAG3):c.1118G>A (p.Cys373Tyr)
|
rs876657745
|
0.00001
|
NM_004415.4(DSP):c.249G>A (p.Met83Ile)
|
rs1426930663
|
0.00001
|
NM_004415.4(DSP):c.6956G>A (p.Gly2319Asp)
|
rs762943687
|
0.00001
|
NM_004415.4(DSP):c.8309A>G (p.Tyr2770Cys)
|
rs371020228
|
0.00001
|
NM_007078.3(LDB3):c.54G>T (p.Gln18His)
|
rs149348427
|
0.00001
|
NM_014000.3(VCL):c.163G>T (p.Val55Phe)
|
rs755441334
|
0.00001
|
NM_020297.4(ABCC9):c.2190C>A (p.His730Gln)
|
rs771887289
|
0.00001
|
NM_020297.4(ABCC9):c.337G>A (p.Val113Ile)
|
rs200723629
|
0.00001
|
NM_170707.4(LMNA):c.*722T>C
|
rs921268252
|
0.00001
|
GRCh37/hg19 17p13.2(chr17:3394299-3632836)
|
|
|
NM_000116.5(TAFAZZIN):c.699+5G>A
|
rs1603381866
|
|
NM_000256.3(MYBPC3):c.3326C>A (p.Thr1109Asn)
|
rs397516016
|
|
NM_000256.3(MYBPC3):c.362C>T (p.Pro121Leu)
|
rs551888783
|
|
NM_000257.4(MYH7):c.2052G>A (p.Met684Ile)
|
rs727503262
|
|
NM_000257.4(MYH7):c.936C>A (p.Phe312Leu)
|
rs771522982
|
|
NM_000335.5(SCN5A):c.4165A>G (p.Thr1389Ala)
|
rs1553695261
|
|
NM_000337.6(SGCD):c.25C>T (p.His9Tyr)
|
rs1320640424
|
|
NM_001035.3(RYR2):c.9698A>G (p.His3233Arg)
|
rs1386204884
|
|
NM_001134363.3(RBM20):c.3245T>C (p.Leu1082Pro)
|
rs878854252
|
|
NM_001276345.2(TNNT2):c.764C>T (p.Ala255Val)
|
rs369181536
|
|
NM_001943.5(DSG2):c.2585G>C (p.Ser862Thr)
|
rs1598826629
|
|
NM_002230.4(JUP):c.1622A>T (p.His541Leu)
|
rs782449369
|
|
NM_002471.4(MYH6):c.2500C>T (p.Leu834Phe)
|
rs1314476937
|
|
NM_004006.3(DMD):c.*23_*35del
|
rs752332058
|
|
NM_004006.3(DMD):c.4082G>A (p.Arg1361Lys)
|
rs753639717
|
|
NM_004006.3(DMD):c.4428G>T (p.Met1476Ile)
|
rs745757372
|
|
NM_004006.3(DMD):c.7712G>A (p.Arg2571Gln)
|
rs371588290
|
|
NM_004006.3(DMD):c.9352G>T (p.Ala3118Ser)
|
rs200928985
|
|
NM_004281.4(BAG3):c.507G>C (p.Glu169Asp)
|
rs1060502812
|
|
NM_004281.4(BAG3):c.549CTC[1] (p.Ser185del)
|
rs763170019
|
|
NM_004415.4(DSP):c.1357C>T (p.Pro453Ser)
|
rs1554106845
|
|
NM_004415.4(DSP):c.3764G>A (p.Arg1255Lys)
|
rs777407386
|
|
NM_004415.4(DSP):c.877G>A (p.Glu293Lys)
|
rs876657799
|
|
NM_014000.3(VCL):c.2935A>G (p.Lys979Glu)
|
rs1591718331
|
|
NM_014604.4(TAX1BP3):c.233T>C (p.Met78Thr)
|
rs1307997067
|
|
NM_032578.4(MYPN):c.109C>T (p.Pro37Ser)
|
rs1048512621
|
|
NM_032578.4(MYPN):c.1859C>G (p.Thr620Ser)
|
rs958954733
|
|
NM_144573.4(NEXN):c.1123G>T (p.Glu375Ter)
|
rs1571150562
|
|
NM_144573.4(NEXN):c.1416AAG[1] (p.Arg475del)
|
rs794729091
|
|
NM_170707.4(LMNA):c.334G>A (p.Glu112Lys)
|
rs1553262031
|
|
NM_170707.4(LMNA):c.611T>A (p.Leu204Gln)
|
rs1553265180
|
|