NM_003611.3(OFD1):c.1129+16A>G
|
rs3815049
|
0.28069
|
NM_004484.4(GPC3):c.1500T>C (p.Asp500=)
|
rs2314298
|
0.06746
|
NM_004484.4(GPC3):c.1626A>G (p.Ala542=)
|
rs61754631
|
0.05751
|
NM_004484.4(GPC3):c.204G>A (p.Lys68=)
|
rs61754632
|
0.01163
|
NM_003611.3(OFD1):c.714T>C (p.Tyr238=)
|
rs139848884
|
0.00637
|
NM_003611.3(OFD1):c.2929-18C>T
|
rs180940027
|
0.00601
|
NM_003611.3(OFD1):c.2663A>C (p.Lys888Thr)
|
rs149647255
|
0.00381
|
NM_004484.4(GPC3):c.1285G>A (p.Val429Met)
|
rs11539789
|
0.00333
|
NM_003611.3(OFD1):c.1923G>A (p.Glu641=)
|
rs145300245
|
0.00298
|
NM_003611.3(OFD1):c.1654+14T>A
|
rs192720874
|
0.00131
|
NM_004484.4(GPC3):c.1032+9C>T
|
rs200782847
|
0.00069
|
NM_003611.3(OFD1):c.1294A>G (p.Lys432Glu)
|
rs142352920
|
0.00024
|
NM_003611.3(OFD1):c.2260+12G>A
|
rs375507459
|
0.00023
|
NM_003611.3(OFD1):c.2235C>T (p.Ser745=)
|
rs372503752
|
0.00015
|
NM_003611.3(OFD1):c.795G>A (p.Lys265=)
|
rs745443262
|
0.00011
|
NM_004484.4(GPC3):c.1631C>T (p.Pro544Leu)
|
rs375606908
|
0.00011
|
NM_003611.3(OFD1):c.2928+18A>G
|
rs756838502
|
0.00010
|
NM_004484.4(GPC3):c.1232G>T (p.Ser411Ile)
|
rs139206747
|
0.00010
|
NM_004484.4(GPC3):c.516C>T (p.Asp172=)
|
rs369607601
|
0.00010
|
NM_003611.3(OFD1):c.1271A>G (p.Asn424Ser)
|
rs532274932
|
0.00009
|
NM_003611.3(OFD1):c.2584T>G (p.Ser862Ala)
|
rs797045846
|
0.00008
|
NM_003611.3(OFD1):c.282C>T (p.Phe94=)
|
rs762169661
|
0.00006
|
NM_003611.3(OFD1):c.2992G>A (p.Glu998Lys)
|
rs772233258
|
0.00006
|
NM_004484.4(GPC3):c.358C>T (p.Arg120Cys)
|
rs587778392
|
0.00006
|
NM_003611.3(OFD1):c.1347A>G (p.Ala449=)
|
rs151287373
|
0.00005
|
NM_003611.3(OFD1):c.1490A>C (p.His497Pro)
|
rs772474080
|
0.00004
|
NM_003611.3(OFD1):c.494C>T (p.Ser165Leu)
|
rs756793358
|
0.00004
|
NM_004484.4(GPC3):c.648G>C (p.Met216Ile)
|
rs752516966
|
0.00004
|
NM_004484.4(GPC3):c.972T>C (p.Phe324=)
|
rs183678432
|
0.00004
|
NM_003611.3(OFD1):c.1694T>C (p.Val565Ala)
|
rs529916753
|
0.00003
|
NM_003611.3(OFD1):c.2482T>G (p.Phe828Val)
|
rs779051357
|
0.00003
|
NM_003611.3(OFD1):c.324G>A (p.Met108Ile)
|
rs763219658
|
0.00003
|
NM_003611.3(OFD1):c.688A>G (p.Ile230Val)
|
rs770131832
|
0.00003
|
NM_003611.3(OFD1):c.1025A>G (p.Tyr342Cys)
|
rs758712291
|
0.00002
|
NM_003611.3(OFD1):c.2022C>A (p.His674Gln)
|
rs759693810
|
0.00002
|
NM_003611.3(OFD1):c.634C>T (p.Arg212Trp)
|
rs776834508
|
0.00002
|
NM_003611.3(OFD1):c.730A>G (p.Met244Val)
|
rs770614769
|
0.00002
|
NM_004484.4(GPC3):c.115C>T (p.Arg39Cys)
|
rs757475450
|
0.00002
|
NM_004484.4(GPC3):c.175+12T>G
|
rs765877667
|
0.00002
|
NM_004484.4(GPC3):c.485A>G (p.Asn162Ser)
|
rs780431445
|
0.00002
|
NM_003611.3(OFD1):c.1030C>T (p.Arg344Ter)
|
rs758903488
|
0.00001
|
NM_003611.3(OFD1):c.1468G>A (p.Glu490Lys)
|
rs1454731121
|
0.00001
|
NM_003611.3(OFD1):c.2117C>T (p.Thr706Ile)
|
rs773224811
|
0.00001
|
NM_003611.3(OFD1):c.2297G>T (p.Cys766Phe)
|
rs774888576
|
0.00001
|
NM_003611.3(OFD1):c.3021A>T (p.Glu1007Asp)
|
rs1235702491
|
0.00001
|
NM_003611.3(OFD1):c.74A>G (p.Gln25Arg)
|
rs1158126675
|
0.00001
|
NM_003611.3(OFD1):c.892G>A (p.Gly298Arg)
|
rs778349684
|
0.00001
|
NM_003611.3(OFD1):c.935+4A>G
|
rs1243725011
|
0.00001
|
NM_003611.3(OFD1):c.967A>G (p.Ser323Gly)
|
rs764424025
|
0.00001
|
NM_004484.4(GPC3):c.1070A>G (p.Tyr357Cys)
|
rs757269723
|
0.00001
|
NM_004484.4(GPC3):c.1167-1G>A
|
rs2071074944
|
0.00001
|
NM_004484.4(GPC3):c.118T>C (p.Ser40Pro)
|
rs1238291553
|
0.00001
|
NM_004484.4(GPC3):c.1277A>G (p.Gln426Arg)
|
rs749874149
|
0.00001
|
NM_004484.4(GPC3):c.1292+6C>T
|
rs1207247416
|
0.00001
|
NM_004484.4(GPC3):c.1296C>T (p.Tyr432=)
|
rs946461494
|
0.00001
|
NM_004484.4(GPC3):c.1568T>C (p.Leu523Pro)
|
rs1015207544
|
0.00001
|
NM_004484.4(GPC3):c.1698C>T (p.Thr566=)
|
rs201310379
|
0.00001
|
NM_004484.4(GPC3):c.450A>G (p.Thr150=)
|
rs1569426383
|
0.00001
|
NM_004484.4(GPC3):c.696T>C (p.Ala232=)
|
rs2071695506
|
0.00001
|
NM_004484.4(GPC3):c.797A>G (p.Gln266Arg)
|
rs765072095
|
0.00001
|
NM_004484.4(GPC3):c.865G>A (p.Val289Met)
|
rs1456458902
|
0.00001
|
NM_004484.4(GPC3):c.918T>C (p.Leu306=)
|
rs753655328
|
0.00001
|
GRCh37/hg19 Xq26.1-26.2(chrX:130280298-132670366)
|
|
|
GRCh37/hg19 Xq26.2(chrX:132703748-132794615)
|
|
|
GRCh37/hg19 Xq26.2(chrX:132834006-132986815)
|
|
|
GRCh38/hg38 Xq26.2(chrX:133658037-133915611)
|
|
|
NC_000023.10:g.(133030929_133031380)_(133079087_133079463)delins(118528009_118528409)_(118674690_118675082)
|
|
|
NM_001448.3(GPC4):c.320-15del
|
rs57898529
|
|
NM_003611.3(OFD1):c.1007dup (p.Ser337fs)
|
rs749448671
|
|
NM_003611.3(OFD1):c.1193_1196del (p.Gln398fs)
|
rs312262868
|
|
NM_003611.3(OFD1):c.121C>T (p.Arg41Ter)
|
rs312262810
|
|
NM_003611.3(OFD1):c.1411+1G>A
|
rs2147027077
|
|
NM_003611.3(OFD1):c.1412-11del
|
rs36052228
|
|
NM_003611.3(OFD1):c.1412-322G>A
|
rs2047747647
|
|
NM_003611.3(OFD1):c.1424C>T (p.Pro475Leu)
|
|
|
NM_003611.3(OFD1):c.1478T>C (p.Ile493Thr)
|
rs2147032761
|
|
NM_003611.3(OFD1):c.1589C>G (p.Ala530Gly)
|
rs2047794483
|
|
NM_003611.3(OFD1):c.2126_2129dup (p.Asn711fs)
|
rs312262890
|
|
NM_003611.3(OFD1):c.216C>A (p.Gly72=)
|
rs369907022
|
|
NM_003611.3(OFD1):c.2336G>A (p.Arg779Lys)
|
|
|
NM_003611.3(OFD1):c.2464GAG[1] (p.Glu823del)
|
rs771984968
|
|
NM_003611.3(OFD1):c.2488+14_2488+19del
|
rs781190242
|
|
NM_003611.3(OFD1):c.2638G>T (p.Glu880Ter)
|
|
|
NM_003611.3(OFD1):c.2996+16AC[2]
|
rs761270089
|
|
NM_003611.3(OFD1):c.368T>C (p.Leu123Pro)
|
|
|
NM_003611.3(OFD1):c.400_403del (p.Glu134fs)
|
rs312262830
|
|
NM_003611.3(OFD1):c.517+13_517+14delinsGC
|
rs2146959704
|
|
NM_003611.3(OFD1):c.604_609del (p.Glu202_Tyr203del)
|
rs1602826132
|
|
NM_003611.3(OFD1):c.710dup (p.Tyr238fs)
|
rs312262845
|
|
NM_003611.3(OFD1):c.802_820del (p.Leu268fs)
|
rs2146970113
|
|
NM_004484.3(GPC3):c.(1293_1293)-76_(1413_1413)del
|
|
|
NM_004484.3(GPC3):c.1414_1573del160 (p.Leu472Asnfs)
|
|
|
NM_004484.4(GPC3):c.-1G>C
|
rs2076564315
|
|
NM_004484.4(GPC3):c.1051C>T (p.His351Tyr)
|
rs2071153064
|
|
NM_004484.4(GPC3):c.1159C>T (p.Arg387Ter)
|
rs122453121
|
|
NM_004484.4(GPC3):c.1292+1G>T
|
rs869025182
|
|
NM_004484.4(GPC3):c.1293-10A>G
|
|
|
NM_004484.4(GPC3):c.140C>T (p.Pro47Leu)
|
rs2076562505
|
|
NM_004484.4(GPC3):c.1413+1G>C
|
rs2124401754
|
|
NM_004484.4(GPC3):c.1454A>C (p.Asp485Ala)
|
rs2069918325
|
|
NM_004484.4(GPC3):c.1494C>A (p.Cys498Ter)
|
rs753210097
|
|
NM_004484.4(GPC3):c.1562G>A (p.Arg521His)
|
rs2069915768
|
|
NM_004484.4(GPC3):c.1640A>G (p.Asn547Ser)
|
rs2069289549
|
|
NM_004484.4(GPC3):c.1645A>G (p.Ile549Val)
|
rs2124257541
|
|
NM_004484.4(GPC3):c.1666G>A (p.Gly556Arg)
|
rs267606850
|
|
NM_004484.4(GPC3):c.1692del (p.Leu565fs)
|
rs886039908
|
|
NM_004484.4(GPC3):c.1736_1737del (p.Val579fs)
|
|
|
NM_004484.4(GPC3):c.175+1G>T
|
rs886039489
|
|
NM_004484.4(GPC3):c.190del (p.Val64fs)
|
|
|
NM_004484.4(GPC3):c.194_206del (p.Cys65fs)
|
rs869025181
|
|
NM_004484.4(GPC3):c.271del (p.Gln91fs)
|
rs2124634791
|
|
NM_004484.4(GPC3):c.280del (p.Gln94fs)
|
|
|
NM_004484.4(GPC3):c.337+1G>A
|
rs869025183
|
|
NM_004484.4(GPC3):c.338-20dup
|
rs370737647
|
|
NM_004484.4(GPC3):c.338-5del
|
rs370737647
|
|
NM_004484.4(GPC3):c.338-6_338-5dup
|
rs370737647
|
|
NM_004484.4(GPC3):c.338-7_338-5del
|
rs370737647
|
|
NM_004484.4(GPC3):c.467T>A (p.Ile156Asn)
|
rs2124480768
|
|
NM_004484.4(GPC3):c.505G>T (p.Glu169Ter)
|
rs2071700502
|
|
NM_004484.4(GPC3):c.553C>T (p.Pro185Ser)
|
|
|
NM_004484.4(GPC3):c.595C>T (p.Arg199Ter)
|
rs104894855
|
|
NM_004484.4(GPC3):c.695C>A (p.Ala232Asp)
|
rs1206002281
|
|
NM_004484.4(GPC3):c.886T>A (p.Trp296Arg)
|
rs104894854
|
|
NM_004484.4(GPC3):c.913G>A (p.Glu305Lys)
|
rs903266102
|
|
NM_004484.4(GPC3):c.974C>A (p.Ser325Ter)
|
rs1569426054
|
|
NM_005120.3(MED12):c.2023C>T (p.Leu675Phe)
|
|
|