|
NM_012082.4(ZFPM2):c.292G>A (p.Asp98Asn)
|
rs202217256
|
0.00311
|
|
NM_012082.4(ZFPM2):c.1632G>A (p.Met544Ile)
|
rs187043152
|
0.00306
|
|
NM_012082.4(ZFPM2):c.89A>G (p.Glu30Gly)
|
rs121908601
|
0.00293
|
|
NM_012082.4(ZFPM2):c.629G>C (p.Ser210Thr)
|
rs182216711
|
0.00279
|
|
NM_001308093.3(GATA4):c.1040C>T (p.Ala347Val)
|
rs115372595
|
0.00144
|
|
NM_012082.4(ZFPM2):c.2107A>C (p.Met703Leu)
|
rs121908603
|
0.00019
|
|
NM_001308093.3(GATA4):c.1223C>A (p.Pro408Gln)
|
rs115099192
|
0.00010
|
|
NM_012082.4(ZFPM2):c.1003C>G (p.Leu335Val)
|
rs376235097
|
0.00009
|
|
NM_001308093.3(GATA4):c.1183C>A (p.Pro395Thr)
|
rs200319078
|
0.00003
|
|
NM_012082.4(ZFPM2):c.1612G>A (p.Val538Ile)
|
rs575054307
|
0.00003
|
|
NM_004959.5(NR5A1):c.250C>T (p.Arg84Cys)
|
rs1832458239
|
0.00001
|
|
NC_000009.12:g.(?_124481358)_(124505411_?)del
|
|
|
|
NC_000009.12:g.(?_124482420)_(124482928_?)del
|
|
|
|
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.1073T>C (p.Leu358Pro)
|
rs2131277648
|
|
|
NM_004959.5(NR5A1):c.1090G>T (p.Asp364Tyr)
|
rs2131277629
|
|
|
NM_004959.5(NR5A1):c.1106_1109del (p.Val369fs)
|
|
|
|
NM_004959.5(NR5A1):c.1138+5G>A
|
rs1832300085
|
|
|
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.140A>G (p.Tyr47Cys)
|
rs2131289790
|
|
|
NM_004959.5(NR5A1):c.151G>T (p.Glu51Ter)
|
rs775441984
|
|
|
NM_004959.5(NR5A1):c.15C>A (p.Tyr5Ter)
|
|
|
|
NM_004959.5(NR5A1):c.164G>A (p.Cys55Tyr)
|
|
|
|
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.236_238del (p.Arg79del)
|
rs1554721859
|
|
|
NM_004959.5(NR5A1):c.251G>A (p.Arg84His)
|
rs375469069
|
|
|
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.284T>C (p.Phe95Ser)
|
rs2131287358
|
|
|
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.44T>C (p.Val15Ala)
|
rs2131290009
|
|
|
NM_004959.5(NR5A1):c.455_536del (p.Leu152fs)
|
rs1588621944
|
|
|
NM_004959.5(NR5A1):c.48C>A (p.Cys16Ter)
|
rs104894123
|
|
|
NM_004959.5(NR5A1):c.616C>A (p.Gln206Lys)
|
|
|
|
NM_004959.5(NR5A1):c.61T>G (p.Ser21Ala)
|
|
|
|
NM_004959.5(NR5A1):c.666del (p.Asn222fs)
|
rs606231206
|
|
|
NM_004959.5(NR5A1):c.721C>T (p.Arg241Trp)
|
rs1832445795
|
|
|
NM_004959.5(NR5A1):c.877G>A (p.Asp293Asn)
|
rs121918655
|
|
|
NM_004959.5(NR5A1):c.89G>A (p.Cys30Tyr)
|
rs2131289962
|
|
|
NM_004959.5(NR5A1):c.937C>T (p.Arg313Cys)
|
rs1057517779
|
|
|
NM_004959.5(NR5A1):c.938G>T (p.Arg313Leu)
|
rs1554721235
|
|
|
NM_004959.5(NR5A1):c.97T>C (p.Cys33Arg)
|
rs1832496590
|
|
|
NM_004959.5(NR5A1):c.983G>T (p.Gly328Val)
|
rs2131279852
|
|
|
NM_004959.5(NR5A1):c.990G>A (p.Glu330=)
|
rs1588618614
|
|
|
NM_012082.4(ZFPM2):c.1255G>A (p.Glu419Lys)
|
rs374581095
|
|
|
NM_012082.4(ZFPM2):c.1770G>C (p.Lys590Asn)
|
rs533177469
|
|
|
NM_012082.4(ZFPM2):c.1818_1820del (p.Leu607del)
|
rs763555819
|
|