NM_000432.4(MYL2):c.401A>C (p.Glu134Ala)
|
rs143139258
|
0.00029
|
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met)
|
rs199473603
|
0.00021
|
NM_001035.3(RYR2):c.4465T>C (p.Cys1489Arg)
|
rs200450676
|
0.00014
|
NM_001927.4(DES):c.893C>T (p.Ser298Leu)
|
rs62636491
|
0.00014
|
NM_170707.4(LMNA):c.1567G>A (p.Gly523Arg)
|
rs201583907
|
0.00006
|
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn)
|
rs74315445
|
0.00005
|
NM_000335.5(SCN5A):c.3715G>C (p.Glu1239Gln)
|
rs199473211
|
0.00003
|
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln)
|
rs193922390
|
0.00002
|
NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu)
|
rs199473456
|
0.00001
|
NM_000492.4(CFTR):c.1394C>A (p.Thr465Asn)
|
rs758900656
|
0.00001
|
NM_172107.4(KCNQ2):c.1627G>A (p.Val543Met)
|
rs794727134
|
0.00001
|
NM_000090.3(COL3A1):c.638_639delinsAA (p.Gly213Glu)
|
rs1553507345
|
|
NM_000138.5(FBN1):c.2248T>C (p.Cys750Arg)
|
rs1555399368
|
|
NM_000138.5(FBN1):c.2893G>A (p.Glu965Lys)
|
rs748905831
|
|
NM_000138.5(FBN1):c.4061G>A (p.Trp1354Ter)
|
rs1060501039
|
|
NM_000138.5(FBN1):c.4937G>T (p.Cys1646Phe)
|
rs397515814
|
|
NM_000138.5(FBN1):c.5743C>T (p.Arg1915Cys)
|
rs1555395826
|
|
NM_000197.2(HSD17B3):c.383T>C (p.Leu128Ser)
|
rs767765046
|
|
NM_000197.2(HSD17B3):c.414_416del (p.Leu139del)
|
rs1554694678
|
|
NM_000197.2(HSD17B3):c.578C>A (p.Pro193His)
|
rs773720185
|
|
NM_000218.3(KCNQ1):c.1032G>T (p.Ala344=)
|
rs1800171
|
|
NM_000218.3(KCNQ1):c.1697C>T (p.Ser566Phe)
|
rs199472804
|
|
NM_000218.3(KCNQ1):c.944A>G (p.Tyr315Cys)
|
rs74462309
|
|
NM_000233.4(LHCGR):c.1193T>C (p.Met398Thr)
|
rs121912526
|
|
NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln)
|
rs121913641
|
|
NM_000257.4(MYH7):c.2221G>T (p.Gly741Trp)
|
rs121913632
|
|
NM_000257.4(MYH7):c.732+2T>G
|
rs1555338658
|
|
NM_000306.4(POU1F1):c.500A>C (p.Gln167Pro)
|
rs1559614730
|
|
NM_000314.8(PTEN):c.253+5G>A
|
rs1554897889
|
|
NM_000335.5(SCN5A):c.4219G>A (p.Gly1407Arg)
|
rs137854612
|
|
NM_000363.5(TNNI3):c.544G>A (p.Glu182Lys)
|
rs397516355
|
|
NM_000492.4(CFTR):c.1882G>A (p.Gly628Arg)
|
rs397508316
|
|
NM_000516.7(GNAS):c.1006dup (p.Arg336fs)
|
rs1569031388
|
|
NM_000529.2(MC2R):c.465G>C (p.Trp155Cys)
|
rs1555619429
|
|
NM_000548.5(TSC2):c.4952A>G (p.Asn1651Ser)
|
rs45517382
|
|
NM_000548.5(TSC2):c.5024C>A (p.Pro1675Gln)
|
rs45483392
|
|
NM_000702.4(ATP1A2):c.3027T>A (p.Tyr1009Ter)
|
rs1570998206
|
|
NM_000744.7(CHRNA4):c.851C>T (p.Ser284Leu)
|
rs28931591
|
|
NM_001165963.4(SCN1A):c.3851G>A (p.Trp1284Ter)
|
rs1559144583
|
|
NM_001184880.2(PCDH19):c.490dup (p.Gln164fs)
|
rs1569315842
|
|
NM_001184880.2(PCDH19):c.593G>T (p.Arg198Leu)
|
rs772837341
|
|
NM_001232.4(CASQ2):c.2T>C (p.Met1Thr)
|
rs1553197939
|
|
NM_001354712.2(THRB):c.1033G>T (p.Gly345Cys)
|
rs121918686
|
|
NM_001354712.2(THRB):c.1373T>C (p.Val458Ala)
|
rs121918704
|
|
NM_002834.5(PTPN11):c.209A>G (p.Lys70Arg)
|
rs397516801
|
|
NM_003630.3(PEX3):c.412G>A (p.Gly138Arg)
|
rs1562654527
|
|
NM_004004.6(GJB2):c.223C>G (p.Arg75Gly)
|
rs104894402
|
|
NM_004004.6(GJB2):c.95G>T (p.Arg32Leu)
|
rs111033190
|
|
NM_004612.4(TGFBR1):c.757A>G (p.Met253Val)
|
rs886038919
|
|
NM_020975.6(RET):c.95C>T (p.Ser32Leu)
|
rs76764689
|
|
NM_170707.4(LMNA):c.3G>C (p.Met1Ile)
|
rs794728598
|
|
NM_172107.4(KCNQ2):c.1658G>C (p.Arg553Pro)
|
rs118192234
|
|
NM_172107.4(KCNQ2):c.775G>A (p.Asp259Asn)
|
rs777257591
|
|