|
NM_012082.4(ZFPM2):c.1632G>A (p.Met544Ile)
|
rs187043152
|
0.00306
|
|
NM_001308093.3(GATA4):c.34G>C (p.Gly12Arg)
|
rs750597721
|
0.00003
|
|
NM_012082.4(ZFPM2):c.779G>A (p.Arg260Gln)
|
rs200834568
|
0.00003
|
|
NC_000009.12:g.(?_124481358)_(124505411_?)del
|
|
|
|
NC_000017.10:g.(69472000_?)_(?_69712000)del
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|
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NC_000017.11:g.(?_71475000)_(71611000_?)del
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NC_000017.11:g.71412006_71988969delinsTACCTTTTATT
|
|
|
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NC_000023.10:g.(?_28807461)_(33229429_?)dup
|
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NC_000023.10:g.(?_30322696)_(30327480_?)del
|
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NC_000023.11:g.(?_30304206_30309390_?)dup
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|
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NM_000475.5(NR0B1):c.1042del (p.Glu348fs)
|
rs1926563553
|
|
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NM_000475.5(NR0B1):c.1104C>A (p.Cys368Ter)
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|
|
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NM_000475.5(NR0B1):c.1168+1del
|
rs2147006209
|
|
|
NM_000475.5(NR0B1):c.1286_1295del (p.Leu429fs)
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|
|
|
NM_000475.5(NR0B1):c.1292del (p.Ser431fs)
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|
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NM_000475.5(NR0B1):c.159dup (p.Leu54fs)
|
rs1926602170
|
|
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NM_000475.5(NR0B1):c.226C>T (p.Gln76Ter)
|
rs2147007353
|
|
|
NM_000475.5(NR0B1):c.25C>T (p.Gln9Ter)
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|
|
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NM_000475.5(NR0B1):c.271del (p.Tyr91fs)
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|
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NM_000475.5(NR0B1):c.292G>T (p.Glu98Ter)
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|
|
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NM_000475.5(NR0B1):c.327C>A (p.Cys109Ter)
|
rs1555973172
|
|
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NM_000475.5(NR0B1):c.382_425dup (p.Gln142fs)
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|
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NM_000475.5(NR0B1):c.405T>A (p.Cys135Ter)
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|
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NM_000475.5(NR0B1):c.418_452del (p.His139_Pro140insTer)
|
|
|
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NM_000475.5(NR0B1):c.501del (p.Gly169fs)
|
rs1569268976
|
|
|
NM_000475.5(NR0B1):c.509_510dup (p.Trp171fs)
|
|
|
|
NM_000475.5(NR0B1):c.516G>A (p.Trp172Ter)
|
rs1555973131
|
|
|
NM_000475.5(NR0B1):c.528C>G (p.Tyr176Ter)
|
rs767828388
|
|
|
NM_000475.5(NR0B1):c.552del (p.Glu185fs)
|
rs1555973115
|
|
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NM_000475.5(NR0B1):c.664C>T (p.Gln222Ter)
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|
|
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NM_000475.5(NR0B1):c.708G>A (p.Trp236Ter)
|
rs1131691564
|
|
|
NM_000475.5(NR0B1):c.901C>T (p.Gln301Ter)
|
rs1555973010
|
|
|
NM_000475.5(NR0B1):c.919G>T (p.Glu307Ter)
|
rs1324519932
|
|
|
NM_001308093.3(GATA4):c.664G>A (p.Gly222Arg)
|
rs398122402
|
|
|
NM_001308093.3(GATA4):c.687G>C (p.Trp229Cys)
|
rs1585684790
|
|
|
NM_004959.5(NR5A1):c.1048C>T (p.Arg350Trp)
|
rs754336683
|
|
|
NM_004959.5(NR5A1):c.104_105delinsAA (p.Gly35Glu)
|
rs121918654
|
|
|
NM_004959.5(NR5A1):c.1058_1065del (p.Glu353fs)
|
|
|
|
NM_004959.5(NR5A1):c.1106_1109del (p.Val369fs)
|
|
|
|
NM_004959.5(NR5A1):c.11C>A (p.Ser4Ter)
|
rs145936761
|
|
|
NM_004959.5(NR5A1):c.1210T>G (p.Tyr404Asp)
|
rs863224904
|
|
|
NM_004959.5(NR5A1):c.1310T>A (p.Leu437Gln)
|
rs104894120
|
|
|
NM_004959.5(NR5A1):c.151G>T (p.Glu51Ter)
|
rs775441984
|
|
|
NM_004959.5(NR5A1):c.164del (p.Cys55fs)
|
|
|
|
NM_004959.5(NR5A1):c.18del (p.Asp6fs)
|
rs606231205
|
|
|
NM_004959.5(NR5A1):c.19G>T (p.Glu7Ter)
|
rs2131290040
|
|
|
NM_004959.5(NR5A1):c.234G>A (p.Met78Ile)
|
rs104894125
|
|
|
NM_004959.5(NR5A1):c.259C>T (p.Arg87Cys)
|
rs866712684
|
|
|
NM_004959.5(NR5A1):c.271G>A (p.Gly91Ser)
|
rs104894126
|
|
|
NM_004959.5(NR5A1):c.274C>T (p.Arg92Trp)
|
rs886039769
|
|
|
NM_004959.5(NR5A1):c.275G>A (p.Arg92Gln)
|
rs104894119
|
|
|
NM_004959.5(NR5A1):c.34_38delinsGACCTGGACCTGT (p.Leu12fs)
|
rs1554721883
|
|
|
NM_004959.5(NR5A1):c.390del (p.Pro131fs)
|
rs606231207
|
|
|
NM_004959.5(NR5A1):c.3G>A (p.Met1Ile)
|
rs121918656
|
|
|
NM_004959.5(NR5A1):c.43G>A (p.Val15Met)
|
rs104894124
|
|
|
NM_004959.5(NR5A1):c.48C>A (p.Cys16Ter)
|
rs104894123
|
|
|
NM_004959.5(NR5A1):c.666del (p.Asn222fs)
|
rs606231206
|
|
|
NM_004959.5(NR5A1):c.877G>A (p.Asp293Asn)
|
rs121918655
|
|
|
NM_004959.5(NR5A1):c.983G>T (p.Gly328Val)
|
rs2131279852
|
|
|
NM_004959.5(NR5A1):c.991-1G>C
|
rs2131277756
|
|
|
NM_005921.2(MAP3K1):c.1016G>A (p.Arg339Gln)
|
rs1554034036
|
|
|
NM_005921.2(MAP3K1):c.1348A>G (p.Met450Val)
|
|
|
|
NM_005921.2(MAP3K1):c.1760T>A (p.Leu587His)
|
rs1131692186
|
|
|
NM_005921.2(MAP3K1):c.1846G>A (p.Gly616Arg)
|
rs143853590
|
|
|
NM_005921.2(MAP3K1):c.556A>G (p.Arg186Gly)
|
rs1579750361
|
|
|
NM_005921.2(MAP3K1):c.566T>A (p.Leu189Gln)
|
rs387906788
|
|
|
NM_005921.2(MAP3K1):c.566T>C (p.Leu189Pro)
|
rs387906788
|
|
|
NM_005921.2(MAP3K1):c.566T>G (p.Leu189Arg)
|
rs387906788
|
|
|
NM_005921.2(MAP3K1):c.634-8T>A
|
rs1131692053
|
|
|
NM_006261.5(PROP1):c.301_302del (p.Leu102fs)
|
rs193922688
|
|
|
NM_012082.4(ZFPM2):c.1206T>A (p.Ser402Arg)
|
rs606231252
|
|
|
NM_012082.4(ZFPM2):c.931C>T (p.Arg311Ter)
|
rs1195263093
|
|