NM_005257.6(GATA6):c.551G>A (p.Ser184Asn)
|
rs387906816
|
0.00014
|
NM_000352.6(ABCC8):c.1793G>A (p.Arg598Gln)
|
rs1344172059
|
0.00006
|
NM_005159.5(ACTC1):c.28C>A (p.Leu10Met)
|
rs397517057
|
0.00004
|
NM_005159.5(ACTC1):c.941G>A (p.Arg314His)
|
rs121912673
|
0.00003
|
NM_000352.6(ABCC8):c.3517G>A (p.Val1173Met)
|
rs141322087
|
0.00002
|
NM_001271874.2(AAR2):c.520G>A (p.Val174Met)
|
rs746800707
|
0.00001
|
NM_004301.5(ACTL6A):c.1129C>T (p.Arg377Trp)
|
rs868064163
|
0.00001
|
46;X;t(Y;16)(q11.23;p11.2);t(6;21)(p21.3;p13)dn
|
|
|
46;XX;inv(7)(q21.2q34)
|
|
|
46;XY;t(2;14)(p22;q24.3)dn
|
|
|
46;XY;t(3;5)(q23;q13)dn
|
|
|
NM_001018005.2(TPM1):c.686C>T (p.Ser229Phe)
|
rs1114167356
|
|
NM_001077653.2(TBX20):c.374C>A (p.Ser125Ter)
|
rs766692577
|
|
NM_001077653.2(TBX20):c.654+1G>C
|
|
|
NM_001292034.3(TAB2):c.1039C>T (p.Arg347Ter)
|
rs1057518422
|
|
NM_001308093.3(GATA4):c.1312G>A (p.Gly438Arg)
|
rs748737164
|
|
NM_001308093.3(GATA4):c.851G>A (p.Arg284His)
|
rs180765750
|
|
NM_001308093.3(GATA4):c.961C>T (p.Arg321Trp)
|
rs1282433424
|
|
NM_003072.5(SMARCA4):c.2900G>A (p.Arg967His)
|
rs1085307769
|
|
NM_004115.4(FGF14):c.486dup (p.Arg163fs)
|
rs1566823361
|
|
NM_004380.3(CREBBP):c.5603G>A (p.Arg1868Gln)
|
rs1567263168
|
|
NM_004387.4(NKX2-5):c.433T>C (p.Phe145Leu)
|
rs2113901956
|
|
NM_004387.4(NKX2-5):c.457C>G (p.Leu153Val)
|
|
|
NM_004387.4(NKX2-5):c.458T>C (p.Leu153Pro)
|
rs2113901873
|
|
NM_004387.4(NKX2-5):c.668del (p.Leu223fs)
|
rs1581108237
|
|
NM_004387.4(NKX2-5):c.746del (p.Gly249fs)
|
|
|
NM_004387.4(NKX2-5):c.752del (p.Asn251fs)
|
rs879253754
|
|
NM_004387.4(NKX2-5):c.783del (p.Ala262fs)
|
rs587784067
|
|
NM_004387.4(NKX2-5):c.804C>G (p.Tyr268Ter)
|
rs1761346424
|
|
NM_005159.5(ACTC1):c.155A>C (p.Lys52Thr)
|
rs2140432240
|
|
NM_005159.5(ACTC1):c.312del (p.Thr105fs)
|
rs1891747424
|
|
NM_005159.5(ACTC1):c.382A>G (p.Thr128Ala)
|
rs1595761333
|
|
NM_005159.5(ACTC1):c.581T>A (p.Ile194Asn)
|
|
|
NM_005159.5(ACTC1):c.663_679dup (p.Asn227fs)
|
rs2140430645
|
|
NM_005159.5(ACTC1):c.725A>G (p.Tyr242Cys)
|
rs2140430561
|
|
NM_005159.5(ACTC1):c.951G>T (p.Lys317Asn)
|
|
|
NM_006079.5(CITED2):c.701A>C (p.Glu234Ala)
|
rs1583066622
|
|
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_181486.4(TBX5):c.253C>A (p.Pro85Thr)
|
rs1565941579
|
|