|
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn)
|
rs1805128
|
0.00841
|
|
NM_172201.2(KCNE2):c.170T>C (p.Ile57Thr)
|
rs74315448
|
0.00063
|
|
NM_001035.3(RYR2):c.8831-9A>C
|
rs187977513
|
0.00026
|
|
NM_001276345.2(TNNT2):c.692T>C (p.Ile231Thr)
|
rs45520032
|
0.00015
|
|
NM_000719.7(CACNA1C):c.202G>A (p.Ala68Thr)
|
rs752000790
|
0.00014
|
|
NM_014140.4(SMARCAL1):c.2542G>T (p.Glu848Ter)
|
rs119473033
|
0.00013
|
|
NM_000352.6(ABCC8):c.1793G>A (p.Arg598Gln)
|
rs1344172059
|
0.00006
|
|
NM_001148.6(ANK2):c.7396C>T (p.Arg2466Cys)
|
rs562115547
|
0.00004
|
|
NM_007078.3(LDB3):c.2174T>A (p.Ile725Asn)
|
rs748399477
|
0.00004
|
|
NM_001009944.3(PKD1):c.226C>T (p.His76Tyr)
|
rs932577597
|
0.00003
|
|
NM_001018005.2(TPM1):c.523G>A (p.Asp175Asn)
|
rs104894503
|
0.00003
|
|
NM_001308093.3(GATA4):c.1276G>A (p.Asp426Asn)
|
rs56208331
|
0.00003
|
|
NM_003098.3(SNTA1):c.160G>C (p.Gly54Arg)
|
rs786205848
|
0.00003
|
|
NM_000352.6(ABCC8):c.3517G>A (p.Val1173Met)
|
rs141322087
|
0.00002
|
|
NM_001148.6(ANK2):c.157G>T (p.Gly53Trp)
|
rs1328490060
|
0.00002
|
|
NM_001148.6(ANK2):c.533C>T (p.Ala178Val)
|
rs901601971
|
0.00002
|
|
NM_001276345.2(TNNT2):c.341C>T (p.Ala114Val)
|
rs727504245
|
0.00002
|
|
NM_001386795.1(DTNA):c.177A>G (p.Ile59Met)
|
rs1057518968
|
0.00002
|
|
NM_007078.3(LDB3):c.494G>A (p.Arg165Gln)
|
rs61857115
|
0.00002
|
|
NM_000089.4(COL1A2):c.280-7T>C
|
rs750868020
|
0.00001
|
|
NM_000891.3(KCNJ2):c.953A>G (p.Asn318Ser)
|
rs367560052
|
0.00001
|
|
NM_001018005.2(TPM1):c.115-213G>C
|
rs979999394
|
0.00001
|
|
NM_001077653.2(TBX20):c.456C>G (p.Ile152Met)
|
rs137852954
|
0.00001
|
|
NM_001148.6(ANK2):c.3526G>T (p.Val1176Leu)
|
rs777113752
|
0.00001
|
|
NM_001492.6(GDF1):c.137G>C (p.Arg46Pro)
|
rs2055941159
|
0.00001
|
|
NM_005751.5(AKAP9):c.4367C>A (p.Ala1456Asp)
|
rs763748052
|
0.00001
|
|
NM_016358.3(IRX4):c.1172C>T (p.Pro391Leu)
|
rs1175075312
|
0.00001
|
|
NM_022114.4(PRDM16):c.1789G>A (p.Asp597Asn)
|
rs753255714
|
0.00001
|
|
NM_022114.4(PRDM16):c.3724G>A (p.Glu1242Lys)
|
rs772460000
|
0.00001
|
|
GRCh37/hg19 14q24.3(chr14:76105695-76107636)
|
|
|
|
NM_000214.3(JAG1):c.1613C>T (p.Ala538Val)
|
rs2067321488
|
|
|
NM_000214.3(JAG1):c.2122_2125del (p.Gln708fs)
|
rs727504412
|
|
|
NM_000214.3(JAG1):c.228del (p.Val77fs)
|
rs2067506937
|
|
|
NM_000214.3(JAG1):c.289G>C (p.Gly97Arg)
|
rs2067506326
|
|
|
NM_000214.3(JAG1):c.3256G>A (p.Val1086Met)
|
rs1334024757
|
|
|
NM_000218.3(KCNQ1):c.1262_1265del (p.Lys421fs)
|
rs397508083
|
|
|
NM_000218.3(KCNQ1):c.364dup (p.Cys122fs)
|
rs397508109
|
|
|
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr)
|
rs120074177
|
|
|
NM_000719.7(CACNA1C):c.1217+5G>A
|
rs2099768300
|
|
|
NM_000719.7(CACNA1C):c.1523G>A (p.Arg508Gln)
|
rs762091177
|
|
|
NM_000719.7(CACNA1C):c.2542GAG[2] (p.Glu850del)
|
rs575583988
|
|
|
NM_000891.3(KCNJ2):c.578T>C (p.Leu193Pro)
|
rs1555603955
|
|
|
NM_000969.5(RPL5):c.74-1G>C
|
rs1553284997
|
|
|
NM_001018005.2(TPM1):c.391G>C (p.Glu131Gln)
|
rs2035303241
|
|
|
NM_001018005.2(TPM1):c.678G>C (p.Lys226Asn)
|
rs1343107860
|
|
|
NM_001256071.3(RNF213):c.11659A>G (p.Lys3887Glu)
|
rs1555673862
|
|
|
NM_001276345.2(TNNT2):c.451del (p.Arg151fs)
|
rs730881115
|
|
|
NM_001276345.2(TNNT2):c.46C>A (p.Gln16Lys)
|
rs1660718949
|
|
|
NM_001292034.3(TAB2):c.1039C>T (p.Arg347Ter)
|
rs1057518422
|
|
|
NM_001308093.3(GATA4):c.786+16G>T
|
rs200555437
|
|
|
NM_001386795.1(DTNA):c.1743+2825dup
|
rs778058745
|
|
|
NM_001451.3(FOXF1):c.280A>T (p.Asn94Tyr)
|
rs1057518868
|
|
|
NM_001999.4(FBN2):c.7663A>G (p.Thr2555Ala)
|
rs1765343397
|
|
|
NM_003072.5(SMARCA4):c.1358C>T (p.Thr453Ile)
|
rs1057518862
|
|
|
NM_003221.4(TFAP2B):c.830C>G (p.Ser277Trp)
|
rs1057518947
|
|
|
NM_004006.3(DMD):c.93+1G>C
|
rs886042604
|
|
|
NM_004333.6(BRAF):c.1502A>G (p.Glu501Gly)
|
rs180177039
|
|
|
NM_004387.4(NKX2-5):c.711C>A (p.Tyr237Ter)
|
rs1554093433
|
|
|
NM_004586.3(RPS6KA3):c.533C>G (p.Ala178Gly)
|
rs1057518914
|
|
|
NM_005378.6(MYCN):c.1226C>T (p.Pro409Leu)
|
rs1553371013
|
|
|
NM_005633.4(SOS1):c.1300G>A (p.Gly434Arg)
|
rs397517148
|
|
|
NM_005751.5(AKAP9):c.5621C>T (p.Thr1874Ile)
|
rs1809737574
|
|
|
NM_007078.3(LDB3):c.1678G>A (p.Gly560Ser)
|
rs1846936455
|
|
|
NM_012082.4(ZFPM2):c.2238A>G (p.Leu746=)
|
rs1814052830
|
|
|
NM_012082.4(ZFPM2):c.3269dup (p.Ser1091fs)
|
rs1814103683
|
|
|
NM_014140.4(SMARCAL1):c.723C>A (p.Cys241Ter)
|
rs748106387
|
|
|
NM_015559.3(SETBP1):c.2614G>A (p.Gly872Arg)
|
rs1555706928
|
|
|
NM_017780.4(CHD7):c.2867C>A (p.Ser956Ter)
|
rs367557471
|
|
|
NM_018486.3(HDAC8):c.584T>G (p.Val195Gly)
|
rs1556009247
|
|
|
NM_020975.6(RET):c.2753T>C (p.Met918Thr)
|
rs74799832
|
|
|
NM_022114.4(PRDM16):c.565A>G (p.Ser189Gly)
|
rs1643176774
|
|
|
NM_031407.7(HUWE1):c.6485G>C (p.Arg2162Pro)
|
rs1556948950
|
|
|
NM_053274.3(GLMN):c.108C>A (p.Cys36Ter)
|
rs770780171
|
|
|
NM_133433.4(NIPBL):c.7459del (p.Glu2487fs)
|
rs1554034812
|
|
|
NM_138295.5(PKD1L1):c.1060+4del
|
rs781240034
|
|
|
NM_138295.5(PKD1L1):c.2454-18C>G
|
rs372682154
|
|