NM_000202.8(IDS):c.438C>T (p.Thr146=)
|
rs1141608
|
0.32051
|
NM_000202.8(IDS):c.641C>T (p.Thr214Met)
|
rs61736892
|
0.01492
|
NM_000202.8(IDS):c.467C>A (p.Pro156Gln)
|
rs145231211
|
0.00832
|
NM_000202.8(IDS):c.465T>A (p.Phe155Leu)
|
rs149210251
|
0.00829
|
NM_000202.8(IDS):c.1269C>T (p.Pro423=)
|
rs61736890
|
0.00558
|
NM_000202.8(IDS):c.925A>G (p.Thr309Ala)
|
rs145807417
|
0.00488
|
NM_000202.8(IDS):c.754G>A (p.Asp252Asn)
|
rs146458524
|
0.00372
|
NM_000202.8(IDS):c.418+12T>C
|
rs470986
|
0.00178
|
NM_000202.8(IDS):c.825C>T (p.Asp275=)
|
rs148038243
|
0.00120
|
NM_000202.8(IDS):c.126C>T (p.Ile42=)
|
rs146963087
|
0.00117
|
NM_000202.8(IDS):c.123C>G (p.Leu41=)
|
rs146904022
|
0.00115
|
NM_000202.8(IDS):c.1181-13C>T
|
rs188486717
|
0.00078
|
NM_000202.8(IDS):c.336C>T (p.His112=)
|
rs138687038
|
0.00073
|
NM_000202.8(IDS):c.884A>G (p.Lys295Arg)
|
rs113993953
|
0.00072
|
NM_000202.8(IDS):c.396G>A (p.Ser132=)
|
rs147108245
|
0.00063
|
NM_000202.8(IDS):c.781C>G (p.Pro261Ala)
|
rs141720810
|
0.00055
|
NM_000202.8(IDS):c.666C>T (p.Ala222=)
|
rs201588028
|
0.00036
|
NM_000202.8(IDS):c.1074C>G (p.Pro358=)
|
rs61736891
|
0.00035
|
NM_000202.8(IDS):c.727C>T (p.Pro243Ser)
|
rs143474305
|
0.00023
|
NM_000202.8(IDS):c.849G>C (p.Val283=)
|
rs147374356
|
0.00021
|
NM_000202.8(IDS):c.104A>G (p.Asp35Gly)
|
rs144081417
|
0.00019
|
NM_000202.8(IDS):c.1490A>G (p.Tyr497Cys)
|
rs142248439
|
0.00016
|
NM_000202.8(IDS):c.41G>A (p.Gly14Asp)
|
rs373389352
|
0.00016
|
NM_000202.8(IDS):c.445T>G (p.Ser149Ala)
|
rs146846763
|
0.00015
|
NM_000202.8(IDS):c.103+7C>T
|
rs369735286
|
0.00013
|
NM_000202.8(IDS):c.507+6G>T
|
rs370769925
|
0.00013
|
NM_000202.8(IDS):c.667G>A (p.Val223Ile)
|
rs200784263
|
0.00012
|
NM_000202.8(IDS):c.1499C>T (p.Thr500Ile)
|
rs372205468
|
0.00011
|
NM_000202.8(IDS):c.236C>G (p.Ala79Gly)
|
rs368513342
|
0.00011
|
NM_000202.8(IDS):c.957C>T (p.Asp319=)
|
rs782488487
|
0.00011
|
NM_000202.8(IDS):c.881G>A (p.Arg294Gln)
|
rs782445506
|
0.00010
|
NM_000202.8(IDS):c.1227G>A (p.Thr409=)
|
rs201905166
|
0.00009
|
NM_000202.8(IDS):c.234T>C (p.Phe78=)
|
rs782290556
|
0.00009
|
NM_000202.8(IDS):c.1006+8T>C
|
rs782781942
|
0.00008
|
NM_000202.8(IDS):c.1144G>C (p.Asp382His)
|
rs370125505
|
0.00008
|
NM_000202.8(IDS):c.1159G>A (p.Ala387Thr)
|
rs376725292
|
0.00008
|
NM_000202.8(IDS):c.304C>T (p.Leu102=)
|
rs782790524
|
0.00008
|
NM_000202.8(IDS):c.929A>G (p.Gln310Arg)
|
rs782210625
|
0.00008
|
NM_000202.8(IDS):c.1085A>G (p.Tyr362Cys)
|
rs141037133
|
0.00007
|
NM_000202.8(IDS):c.421A>T (p.Ile141Leu)
|
rs781999172
|
0.00007
|
NM_000202.8(IDS):c.27C>T (p.Gly9=)
|
rs782412902
|
0.00006
|
NM_000202.8(IDS):c.357C>T (p.Ile119=)
|
rs782362742
|
0.00006
|
NM_000202.8(IDS):c.419-10T>G
|
rs782082376
|
0.00006
|
NM_000202.8(IDS):c.753C>T (p.Pro251=)
|
rs782051908
|
0.00006
|
NM_000202.8(IDS):c.937C>T (p.Arg313Cys)
|
rs201048643
|
0.00006
|
NM_000202.8(IDS):c.950C>A (p.Ala317Asp)
|
rs374576277
|
0.00006
|
NM_000202.8(IDS):c.103+6G>A
|
rs781956472
|
0.00005
|
NM_000202.8(IDS):c.1158C>T (p.Ser386=)
|
rs372340411
|
0.00005
|
NM_000202.8(IDS):c.1248G>A (p.Leu416=)
|
rs1306764023
|
0.00005
|
NM_000202.8(IDS):c.23G>T (p.Arg8Leu)
|
rs782621858
|
0.00005
|
NM_000202.8(IDS):c.717G>A (p.Gln239=)
|
rs782087755
|
0.00005
|
NM_000202.8(IDS):c.851C>T (p.Pro284Leu)
|
rs782286857
|
0.00005
|
NM_000202.8(IDS):c.868G>A (p.Val290Met)
|
rs782479238
|
0.00005
|
NM_000202.8(IDS):c.894G>A (p.Gln298=)
|
rs781812519
|
0.00005
|
NM_000202.8(IDS):c.104-9C>G
|
rs371864469
|
0.00004
|
NM_000202.8(IDS):c.1290G>A (p.Glu430=)
|
rs140633427
|
0.00004
|
NM_000202.8(IDS):c.162T>C (p.Tyr54=)
|
rs141088021
|
0.00004
|
NM_000202.8(IDS):c.246A>G (p.Ala82=)
|
rs1447255384
|
0.00004
|
NM_000202.8(IDS):c.301C>T (p.Arg101Cys)
|
rs782738754
|
0.00004
|
NM_000202.8(IDS):c.449C>T (p.Pro150Leu)
|
rs1406337035
|
0.00004
|
NM_000202.8(IDS):c.450G>A (p.Pro150=)
|
rs201892132
|
0.00004
|
NM_000202.8(IDS):c.501C>T (p.Asn167=)
|
rs375547801
|
0.00004
|
NM_000202.8(IDS):c.576C>T (p.Pro192=)
|
rs1286461259
|
0.00004
|
NM_000202.8(IDS):c.760G>A (p.Glu254Lys)
|
rs374066256
|
0.00004
|
NM_000202.8(IDS):c.1047C>T (p.Ser349=)
|
rs375836575
|
0.00003
|
NM_000202.8(IDS):c.1100C>T (p.Thr367Met)
|
rs782588855
|
0.00003
|
NM_000202.8(IDS):c.1270G>A (p.Val424Ile)
|
rs373820890
|
0.00003
|
NM_000202.8(IDS):c.1284C>T (p.His428=)
|
rs782163574
|
0.00003
|
NM_000202.8(IDS):c.1372C>T (p.Arg458Cys)
|
rs782340858
|
0.00003
|
NM_000202.8(IDS):c.309C>T (p.Tyr103=)
|
rs1174495581
|
0.00003
|
NM_000202.8(IDS):c.477T>C (p.His159=)
|
rs782649306
|
0.00003
|
NM_000202.8(IDS):c.684A>G (p.Pro228=)
|
rs782561677
|
0.00003
|
NM_000202.8(IDS):c.759C>T (p.Pro253=)
|
rs1214276270
|
0.00003
|
NM_000202.8(IDS):c.852G>A (p.Pro284=)
|
rs782470007
|
0.00003
|
NM_000202.8(IDS):c.982A>G (p.Ile328Val)
|
rs782156020
|
0.00003
|
NM_000202.8(IDS):c.1077G>C (p.Leu359=)
|
rs913480314
|
0.00002
|
NM_000202.8(IDS):c.1113G>A (p.Pro371=)
|
rs146615651
|
0.00002
|
NM_000202.8(IDS):c.1261C>T (p.Arg421Cys)
|
rs781825818
|
0.00002
|
NM_000202.8(IDS):c.1347G>A (p.Glu449=)
|
rs782690963
|
0.00002
|
NM_000202.8(IDS):c.1478G>A (p.Arg493His)
|
rs782347729
|
0.00002
|
NM_000202.8(IDS):c.147C>T (p.Pro49=)
|
rs1557340415
|
0.00002
|
NM_000202.8(IDS):c.1560G>A (p.Gly520=)
|
rs782724941
|
0.00002
|
NM_000202.8(IDS):c.1642T>C (p.Leu548=)
|
rs1557337560
|
0.00002
|
NM_000202.8(IDS):c.177G>A (p.Val59=)
|
rs782743276
|
0.00002
|
NM_000202.8(IDS):c.189T>C (p.Asn63=)
|
rs782083523
|
0.00002
|
NM_000202.8(IDS):c.240+13A>G
|
rs782621152
|
0.00002
|
NM_000202.8(IDS):c.264C>T (p.Arg88=)
|
rs375362189
|
0.00002
|
NM_000202.8(IDS):c.508-6T>C
|
rs1352374568
|
0.00002
|
NM_000202.8(IDS):c.557T>C (p.Val186Ala)
|
rs782007728
|
0.00002
|
NM_000202.8(IDS):c.681G>A (p.Lys227=)
|
rs1557339514
|
0.00002
|
NM_000202.8(IDS):c.696C>T (p.Phe232=)
|
rs782498858
|
0.00002
|
NM_000202.8(IDS):c.880-19A>G
|
rs781883143
|
0.00002
|
NM_000202.8(IDS):c.918T>C (p.Tyr306=)
|
rs781920980
|
0.00002
|
NM_000202.8(IDS):c.955G>A (p.Asp319Asn)
|
rs782549285
|
0.00002
|
NM_000202.8(IDS):c.97A>T (p.Thr33Ser)
|
rs782158763
|
0.00002
|
NM_000202.8(IDS):c.999G>A (p.Ser333=)
|
rs1483244890
|
0.00002
|
NM_000202.8(IDS):c.1007-4C>T
|
rs781947914
|
0.00001
|
NM_000202.8(IDS):c.1007-9A>G
|
rs927728129
|
0.00001
|
NM_000202.8(IDS):c.103+12G>A
|
rs782156440
|
0.00001
|
NM_000202.8(IDS):c.1046G>A (p.Ser349Asn)
|
rs138918423
|
0.00001
|
NM_000202.8(IDS):c.1112C>T (p.Pro371Leu)
|
rs782471629
|
0.00001
|
NM_000202.8(IDS):c.1123G>A (p.Glu375Lys)
|
rs782634993
|
0.00001
|
NM_000202.8(IDS):c.1128G>A (p.Lys376=)
|
rs1266043821
|
0.00001
|
NM_000202.8(IDS):c.1143C>T (p.Leu381=)
|
rs781805300
|
0.00001
|
NM_000202.8(IDS):c.114C>T (p.Asn38=)
|
rs149512799
|
0.00001
|
NM_000202.8(IDS):c.1164A>G (p.Ser388=)
|
rs782363616
|
0.00001
|
NM_000202.8(IDS):c.1180+10A>G
|
rs1173314448
|
0.00001
|
NM_000202.8(IDS):c.1181-15C>T
|
rs199965368
|
0.00001
|
NM_000202.8(IDS):c.1181-19C>G
|
rs1557337665
|
0.00001
|
NM_000202.8(IDS):c.1184G>C (p.Arg395Thr)
|
rs782475200
|
0.00001
|
NM_000202.8(IDS):c.1254T>G (p.Val418=)
|
rs1557337653
|
0.00001
|
NM_000202.8(IDS):c.1257A>G (p.Pro419=)
|
rs782066597
|
0.00001
|
NM_000202.8(IDS):c.1353G>A (p.Pro451=)
|
rs920711197
|
0.00001
|
NM_000202.8(IDS):c.13C>T (p.Arg5Trp)
|
rs141900718
|
0.00001
|
NM_000202.8(IDS):c.1403G>A (p.Arg468Gln)
|
rs113993946
|
0.00001
|
NM_000202.8(IDS):c.1477C>T (p.Arg493Cys)
|
rs782190885
|
0.00001
|
NM_000202.8(IDS):c.1483A>G (p.Ile495Val)
|
rs782228221
|
0.00001
|
NM_000202.8(IDS):c.1536T>A (p.Ala512=)
|
rs782673868
|
0.00001
|
NM_000202.8(IDS):c.1623T>G (p.Gly541=)
|
rs1557337565
|
0.00001
|
NM_000202.8(IDS):c.18C>T (p.Thr6=)
|
rs369954416
|
0.00001
|
NM_000202.8(IDS):c.198A>G (p.Gln66=)
|
rs1557340398
|
0.00001
|
NM_000202.8(IDS):c.237G>A (p.Ala79=)
|
rs782183418
|
0.00001
|
NM_000202.8(IDS):c.252C>T (p.Cys84=)
|
rs1557340286
|
0.00001
|
NM_000202.8(IDS):c.285G>A (p.Arg95=)
|
rs782779732
|
0.00001
|
NM_000202.8(IDS):c.289C>A (p.Pro97Thr)
|
rs1557340273
|
0.00001
|
NM_000202.8(IDS):c.34T>C (p.Trp12Arg)
|
rs1557340598
|
0.00001
|
NM_000202.8(IDS):c.352A>T (p.Thr118Ser)
|
rs2089496220
|
0.00001
|
NM_000202.8(IDS):c.419-6T>C
|
rs1243973593
|
0.00001
|
NM_000202.8(IDS):c.504T>A (p.Thr168=)
|
rs1557339882
|
0.00001
|
NM_000202.8(IDS):c.51G>C (p.Leu17=)
|
rs1352041987
|
0.00001
|
NM_000202.8(IDS):c.709-5C>T
|
rs970568454
|
0.00001
|
NM_000202.8(IDS):c.785T>A (p.Val262Glu)
|
rs782053689
|
0.00001
|
NM_000202.8(IDS):c.807C>T (p.Asp269=)
|
rs1557339297
|
0.00001
|
NM_000202.8(IDS):c.889C>T (p.Arg297Cys)
|
rs782408729
|
0.00001
|
NM_000202.8(IDS):c.906C>G (p.Ala302=)
|
rs1227669625
|
0.00001
|
NM_000202.8(IDS):c.933C>T (p.Val311=)
|
rs782608372
|
0.00001
|
NC_000023.10:g.(?_148564257)_(148586687_?)del
|
|
|
NC_000023.10:g.(?_148564257)_(148586687_?)dup
|
|
|
NC_000023.10:g.(?_148564267)_(148586894_?)del
|
|
|
NC_000023.10:g.(?_148564277)_(148564769_?)del
|
|
|
NC_000023.10:g.(?_148564277)_(148564769_?)dup
|
|
|
NC_000023.10:g.(?_148564277)_(148586667_?)del
|
|
|
NC_000023.10:g.(?_148564277)_(148586667_?)dup
|
|
|
NC_000023.10:g.(?_148571835)_(148582578_?)del
|
|
|
NC_000023.10:g.(?_148577857)_(148579858_?)del
|
|
|
NC_000023.10:g.(?_148578704)_(148586687_?)del
|
|
|
NC_000023.10:g.(?_148579618)_(148586687_?)del
|
|
|
NC_000023.10:g.(?_148579628)_(148579848_?)dup
|
|
|
NC_000023.10:g.(?_148582460)_(148586667_?)dup
|
|
|
NM_000202.8(IDS):c.1001A>G (p.Asp334Gly)
|
rs2089378583
|
|
NM_000202.8(IDS):c.1004A>G (p.His335Arg)
|
|
|
NM_000202.8(IDS):c.1006+12G>T
|
|
|
NM_000202.8(IDS):c.1006+19C>G
|
|
|
NM_000202.8(IDS):c.1006+19C>T
|
|
|
NM_000202.8(IDS):c.1006+1G>C
|
|
|
NM_000202.8(IDS):c.1006+9T>C
|
|
|
NM_000202.8(IDS):c.1006G>T (p.Gly336Trp)
|
rs1557338581
|
|
NM_000202.8(IDS):c.1007-133A>G
|
rs2124007227
|
|
NM_000202.8(IDS):c.1007-1G>A
|
|
|
NM_000202.8(IDS):c.1007-20C>T
|
rs2124006523
|
|
NM_000202.8(IDS):c.1007G>A (p.Gly336Glu)
|
|
|
NM_000202.8(IDS):c.1018G>A (p.Gly340Ser)
|
|
|
NM_000202.8(IDS):c.1019G>A (p.Gly340Asp)
|
|
|
NM_000202.8(IDS):c.101C>A (p.Thr34Lys)
|
|
|
NM_000202.8(IDS):c.1021G>A (p.Glu341Lys)
|
rs2124006380
|
|
NM_000202.8(IDS):c.1024C>T (p.His342Tyr)
|
rs2089343220
|
|
NM_000202.8(IDS):c.103+11C>T
|
|
|
NM_000202.8(IDS):c.103+13C>G
|
|
|
NM_000202.8(IDS):c.103+14C>T
|
|
|
NM_000202.8(IDS):c.103+19C>T
|
|
|
NM_000202.8(IDS):c.103+5C>T
|
rs782108228
|
|
NM_000202.8(IDS):c.103+9C>T
|
|
|
NM_000202.8(IDS):c.104-10T>A
|
|
|
NM_000202.8(IDS):c.104-16C>G
|
|
|
NM_000202.8(IDS):c.104-16C>T
|
|
|
NM_000202.8(IDS):c.104-17C>T
|
|
|
NM_000202.8(IDS):c.104-19G>A
|
|
|
NM_000202.8(IDS):c.104-2A>G
|
rs2089505773
|
|
NM_000202.8(IDS):c.104-4G>A
|
rs2124066481
|
|
NM_000202.8(IDS):c.1040A>G (p.Lys347Arg)
|
rs2089342939
|
|
NM_000202.8(IDS):c.1044C>T (p.Tyr348=)
|
|
|
NM_000202.8(IDS):c.1053T>C (p.Phe351=)
|
rs2124006183
|
|
NM_000202.8(IDS):c.1057G>T (p.Val353Phe)
|
|
|
NM_000202.8(IDS):c.1065C>T (p.Thr355=)
|
|
|
NM_000202.8(IDS):c.1067A>G (p.His356Arg)
|
|
|
NM_000202.8(IDS):c.106G>A (p.Ala36Thr)
|
|
|
NM_000202.8(IDS):c.1072C>A (p.Pro358Thr)
|
|
|
NM_000202.8(IDS):c.1083C>G (p.Phe361Leu)
|
|
|
NM_000202.8(IDS):c.1089T>C (p.Val363=)
|
|
|
NM_000202.8(IDS):c.108T>G (p.Ala36=)
|
rs2089505645
|
|
NM_000202.8(IDS):c.1090C>G (p.Pro364Ala)
|
|
|
NM_000202.8(IDS):c.1090C>T (p.Pro364Ser)
|
rs2124005937
|
|
NM_000202.8(IDS):c.1101G>A (p.Thr367=)
|
|
|
NM_000202.8(IDS):c.1106C>A (p.Ser369Ter)
|
rs1557338127
|
|
NM_000202.8(IDS):c.1113G>T (p.Pro371=)
|
rs146615651
|
|
NM_000202.8(IDS):c.1115del (p.Glu372fs)
|
rs2124005776
|
|
NM_000202.8(IDS):c.1121G>T (p.Gly374Val)
|
rs2124005760
|
|
NM_000202.8(IDS):c.1122C>A (p.Gly374=)
|
rs113993948
|
|
NM_000202.8(IDS):c.1122C>T (p.Gly374=)
|
rs113993948
|
|
NM_000202.8(IDS):c.1123G>T (p.Glu375Ter)
|
rs782634993
|
|
NM_000202.8(IDS):c.1147C>A (p.Pro383Thr)
|
rs2089341258
|
|
NM_000202.8(IDS):c.1149T>G (p.Pro383=)
|
|
|
NM_000202.8(IDS):c.1165C>T (p.Gln389Ter)
|
|
|
NM_000202.8(IDS):c.1166A>T (p.Gln389Leu)
|
|
|
NM_000202.8(IDS):c.1177C>G (p.Pro393Ala)
|
|
|
NM_000202.8(IDS):c.1180+14T>C
|
|
|
NM_000202.8(IDS):c.1180+17A>G
|
|
|
NM_000202.8(IDS):c.1180+20G>A
|
|
|
NM_000202.8(IDS):c.1180+7A>C
|
rs2089340679
|
|
NM_000202.8(IDS):c.1181-14G>A
|
|
|
NM_000202.8(IDS):c.1181-1G>A
|
rs864622777
|
|
NM_000202.8(IDS):c.1188A>G (p.Gln396=)
|
rs2123995158
|
|
NM_000202.8(IDS):c.1188del (p.Gln396fs)
|
|
|
NM_000202.8(IDS):c.1191C>T (p.Ser397=)
|
|
|
NM_000202.8(IDS):c.1196A>T (p.Asp399Val)
|
|
|
NM_000202.8(IDS):c.1197C>T (p.Asp399=)
|
|
|
NM_000202.8(IDS):c.1199T>C (p.Leu400Pro)
|
|
|
NM_000202.8(IDS):c.1203G>A (p.Val401=)
|
|
|
NM_000202.8(IDS):c.1207C>G (p.Leu403Val)
|
|
|
NM_000202.8(IDS):c.1212G>C (p.Val404=)
|
rs2123995105
|
|
NM_000202.8(IDS):c.1214C>T (p.Ser405Phe)
|
|
|
NM_000202.8(IDS):c.1216_1217del (p.Leu406fs)
|
rs2123995091
|
|
NM_000202.8(IDS):c.1222C>G (p.Pro408Ala)
|
|
|
NM_000202.8(IDS):c.1222C>T (p.Pro408Ser)
|
|
|
NM_000202.8(IDS):c.1224dup (p.Thr409fs)
|
rs2123995054
|
|
NM_000202.8(IDS):c.1226C>T (p.Thr409Met)
|
|
|
NM_000202.8(IDS):c.1248G>T (p.Leu416=)
|
|
|
NM_000202.8(IDS):c.124A>G (p.Ile42Val)
|
rs2089505177
|
|
NM_000202.8(IDS):c.1253T>C (p.Val418Ala)
|
|
|
NM_000202.8(IDS):c.1255C>A (p.Pro419Thr)
|
|
|
NM_000202.8(IDS):c.1265G>A (p.Cys422Tyr)
|
rs886044835
|
|
NM_000202.8(IDS):c.1275T>A (p.Pro425=)
|
|
|
NM_000202.8(IDS):c.1293G>A (p.Leu431=)
|
rs782203657
|
|
NM_000202.8(IDS):c.1295G>T (p.Cys432Phe)
|
|
|
NM_000202.8(IDS):c.1297A>G (p.Arg433Gly)
|
rs2089307094
|
|
NM_000202.8(IDS):c.129C>T (p.Ile43=)
|
rs2124066238
|
|
NM_000202.8(IDS):c.12C>G (p.Pro4=)
|
|
|
NM_000202.8(IDS):c.12C>T (p.Pro4=)
|
|
|
NM_000202.8(IDS):c.1303G>T (p.Gly435Cys)
|
|
|
NM_000202.8(IDS):c.1317G>T (p.Leu439=)
|
|
|
NM_000202.8(IDS):c.1327C>A (p.Arg443=)
|
|
|
NM_000202.8(IDS):c.1327C>G (p.Arg443Gly)
|
|
|
NM_000202.8(IDS):c.1327C>T (p.Arg443Ter)
|
rs199422227
|
|
NM_000202.8(IDS):c.1333C>T (p.Arg445Cys)
|
|
|
NM_000202.8(IDS):c.1334G>A (p.Arg445His)
|
|
|
NM_000202.8(IDS):c.1335T>C (p.Arg445=)
|
|
|
NM_000202.8(IDS):c.1338C>T (p.Asp446=)
|
|
|
NM_000202.8(IDS):c.133G>C (p.Asp45His)
|
rs869025301
|
|
NM_000202.8(IDS):c.1350T>A (p.Asp450Glu)
|
rs2123994624
|
|
NM_000202.8(IDS):c.1352C>G (p.Pro451Arg)
|
|
|
NM_000202.8(IDS):c.1353G>C (p.Pro451=)
|
rs920711197
|
|
NM_000202.8(IDS):c.1364G>T (p.Gly455Val)
|
|
|
NM_000202.8(IDS):c.1371C>G (p.Pro457=)
|
|
|
NM_000202.8(IDS):c.1373G>A (p.Arg458His)
|
|
|
NM_000202.8(IDS):c.1378C>T (p.Leu460=)
|
|
|
NM_000202.8(IDS):c.1380G>A (p.Leu460=)
|
|
|
NM_000202.8(IDS):c.1388A>G (p.Tyr463Cys)
|
|
|
NM_000202.8(IDS):c.1389T>C (p.Tyr463=)
|
|
|
NM_000202.8(IDS):c.1393C>T (p.Gln465Ter)
|
rs864622772
|
|
NM_000202.8(IDS):c.1395G>A (p.Gln465=)
|
rs2123994427
|
|
NM_000202.8(IDS):c.13C>A (p.Arg5=)
|
|
|
NM_000202.8(IDS):c.1402C>T (p.Arg468Trp)
|
rs199422231
|
|
NM_000202.8(IDS):c.1402del (p.Arg468fs)
|
rs2123994397
|
|
NM_000202.8(IDS):c.1411G>A (p.Asp471Asn)
|
|
|
NM_000202.8(IDS):c.1416C>T (p.Ile472=)
|
rs2123994324
|
|
NM_000202.8(IDS):c.1417C>T (p.Pro473Ser)
|
rs2123994315
|
|
NM_000202.8(IDS):c.1418C>T (p.Pro473Leu)
|
rs2089305403
|
|
NM_000202.8(IDS):c.1422G>A (p.Gln474=)
|
rs1569560371
|
|
NM_000202.8(IDS):c.1425G>A (p.Trp475Ter)
|
rs199422230
|
|
NM_000202.8(IDS):c.142C>T (p.Arg48Cys)
|
|
|
NM_000202.8(IDS):c.1434C>T (p.Asp478=)
|
|
|
NM_000202.8(IDS):c.1439C>T (p.Pro480Leu)
|
rs2123994251
|
|
NM_000202.8(IDS):c.1440G>A (p.Pro480=)
|
|
|
NM_000202.8(IDS):c.1443T>C (p.Ser481=)
|
|
|
NM_000202.8(IDS):c.1445T>G (p.Leu482Ter)
|
|
|
NM_000202.8(IDS):c.1447A>G (p.Lys483Glu)
|
rs2123994225
|
|
NM_000202.8(IDS):c.1452T>C (p.Asp484=)
|
|
|
NM_000202.8(IDS):c.1454_1455del (p.Ile485fs)
|
rs2089305017
|
|
NM_000202.8(IDS):c.1466G>C (p.Gly489Ala)
|
rs104894863
|
|
NM_000202.8(IDS):c.1470T>A (p.Tyr490Ter)
|
|
|
NM_000202.8(IDS):c.1472C>A (p.Ser491Tyr)
|
|
|
NM_000202.8(IDS):c.1479C>T (p.Arg493=)
|
|
|
NM_000202.8(IDS):c.147C>G (p.Pro49=)
|
rs1557340415
|
|
NM_000202.8(IDS):c.1482C>T (p.Thr494=)
|
rs2123994147
|
|
NM_000202.8(IDS):c.1498A>G (p.Thr500Ala)
|
|
|
NM_000202.8(IDS):c.1500T>A (p.Thr500=)
|
|
|
NM_000202.8(IDS):c.1500T>C (p.Thr500=)
|
rs1602725629
|
|
NM_000202.8(IDS):c.1503G>C (p.Val501=)
|
|
|
NM_000202.8(IDS):c.1504T>A (p.Trp502Arg)
|
|
|
NM_000202.8(IDS):c.1506G>A (p.Trp502Ter)
|
|
|
NM_000202.8(IDS):c.1508T>A (p.Val503Asp)
|
rs398123248
|
|
NM_000202.8(IDS):c.151C>T (p.Leu51=)
|
rs1340608360
|
|
NM_000202.8(IDS):c.1531C>T (p.Leu511=)
|
|
|
NM_000202.8(IDS):c.1536T>C (p.Ala512=)
|
rs782673868
|
|
NM_000202.8(IDS):c.1539C>T (p.Asn513=)
|
|
|
NM_000202.8(IDS):c.1548C>T (p.Asp516=)
|
|
|
NM_000202.8(IDS):c.1561G>A (p.Glu521Lys)
|
rs2124648301
|
|
NM_000202.8(IDS):c.1561dup (p.Glu521fs)
|
rs2124648304
|
|
NM_000202.8(IDS):c.1564C>T (p.Leu522=)
|
rs2124648290
|
|
NM_000202.8(IDS):c.156C>T (p.Gly52=)
|
rs2089504569
|
|
NM_000202.8(IDS):c.1584C>T (p.Asp528=)
|
rs2124648280
|
|
NM_000202.8(IDS):c.1587A>G (p.Pro529=)
|
|
|
NM_000202.8(IDS):c.1588T>C (p.Leu530=)
|
|
|
NM_000202.8(IDS):c.1589dup (p.Leu530fs)
|
rs2124648266
|
|
NM_000202.8(IDS):c.1591C>T (p.Gln531Ter)
|
rs886044837
|
|
NM_000202.8(IDS):c.15G>A (p.Arg5=)
|
rs2124069552
|
|
NM_000202.8(IDS):c.15G>T (p.Arg5=)
|
rs2124069552
|
|
NM_000202.8(IDS):c.1608T>C (p.Tyr536=)
|
rs2089303285
|
|
NM_000202.8(IDS):c.1610A>G (p.Asn537Ser)
|
|
|
NM_000202.8(IDS):c.1617C>T (p.Ser539=)
|
rs782717602
|
|
NM_000202.8(IDS):c.1621G>T (p.Gly541Cys)
|
|
|
NM_000202.8(IDS):c.1626A>C (p.Gly542=)
|
|
|
NM_000202.8(IDS):c.1629T>C (p.Asp543=)
|
|
|
NM_000202.8(IDS):c.1630C>A (p.Leu544Ile)
|
|
|
NM_000202.8(IDS):c.1649C>A (p.Pro550His)
|
|
|
NM_000202.8(IDS):c.165G>A (p.Gly55=)
|
|
|
NM_000202.8(IDS):c.166G>A (p.Asp56Asn)
|
|
|
NM_000202.8(IDS):c.171G>A (p.Lys57=)
|
|
|
NM_000202.8(IDS):c.172C>T (p.Leu58=)
|
|
|
NM_000202.8(IDS):c.172del (p.Leu58fs)
|
|
|
NM_000202.8(IDS):c.183C>A (p.Ser61=)
|
|
|
NM_000202.8(IDS):c.183C>T (p.Ser61=)
|
rs2124065941
|
|
NM_000202.8(IDS):c.187A>G (p.Asn63Asp)
|
rs193302909
|
|
NM_000202.8(IDS):c.18C>G (p.Thr6=)
|
|
|
NM_000202.8(IDS):c.207C>T (p.Ser69=)
|
|
|
NM_000202.8(IDS):c.212G>A (p.Ser71Asn)
|
rs113993954
|
|
NM_000202.8(IDS):c.213C>T (p.Ser71=)
|
|
|
NM_000202.8(IDS):c.214CTC[1] (p.Leu73del)
|
|
|
NM_000202.8(IDS):c.222C>T (p.Phe74=)
|
|
|
NM_000202.8(IDS):c.227A>G (p.Asn76Ser)
|
|
|
NM_000202.8(IDS):c.22C>A (p.Arg8=)
|
|
|
NM_000202.8(IDS):c.22C>T (p.Arg8Ter)
|
rs1602750610
|
|
NM_000202.8(IDS):c.230C>A (p.Ala77Asp)
|
|
|
NM_000202.8(IDS):c.231C>T (p.Ala77=)
|
rs1602749217
|
|
NM_000202.8(IDS):c.238C>T (p.Gln80Ter)
|
rs1569560527
|
|
NM_000202.8(IDS):c.239A>G (p.Gln80Arg)
|
|
|
NM_000202.8(IDS):c.240+11del
|
|
|
NM_000202.8(IDS):c.240+12A>G
|
|
|
NM_000202.8(IDS):c.240+14C>T
|
|
|
NM_000202.8(IDS):c.240+20G>A
|
|
|
NM_000202.8(IDS):c.240+2T>C
|
|
|
NM_000202.8(IDS):c.240+3A>G
|
rs2124065632
|
|
NM_000202.8(IDS):c.240+7C>T
|
rs2124065624
|
|
NM_000202.8(IDS):c.241-14C>G
|
|
|
NM_000202.8(IDS):c.241-16T>C
|
|
|
NM_000202.8(IDS):c.241-2A>G
|
|
|
NM_000202.8(IDS):c.241-4A>G
|
|
|
NM_000202.8(IDS):c.241-5A>G
|
|
|
NM_000202.8(IDS):c.241-6T>G
|
|
|
NM_000202.8(IDS):c.241-7C>T
|
rs2124063828
|
|
NM_000202.8(IDS):c.248T>G (p.Val83Gly)
|
rs1569560525
|
|
NM_000202.8(IDS):c.253G>A (p.Ala85Thr)
|
rs113993949
|
|
NM_000202.8(IDS):c.257C>G (p.Pro86Arg)
|
rs1557340280
|
|
NM_000202.8(IDS):c.257C>T (p.Pro86Leu)
|
rs1557340280
|
|
NM_000202.8(IDS):c.258G>A (p.Pro86=)
|
|
|
NM_000202.8(IDS):c.262C>T (p.Arg88Cys)
|
rs398123249
|
|
NM_000202.8(IDS):c.263G>A (p.Arg88His)
|
rs2089497431
|
|
NM_000202.8(IDS):c.28C>T (p.Leu10Phe)
|
|
|
NM_000202.8(IDS):c.2T>C (p.Met1Thr)
|
rs2124069617
|
|
NM_000202.8(IDS):c.300C>T (p.Thr100=)
|
rs2124063502
|
|
NM_000202.8(IDS):c.306G>A (p.Leu102=)
|
|
|
NM_000202.8(IDS):c.309C>G (p.Tyr103Ter)
|
rs1174495581
|
|
NM_000202.8(IDS):c.30dup (p.Leu11fs)
|
|
|
NM_000202.8(IDS):c.312C>T (p.Asp104=)
|
rs2124063377
|
|
NM_000202.8(IDS):c.315C>T (p.Phe105=)
|
rs2124063363
|
|
NM_000202.8(IDS):c.31C>T (p.Leu11Phe)
|
|
|
NM_000202.8(IDS):c.328A>G (p.Arg110Gly)
|
rs2124063287
|
|
NM_000202.8(IDS):c.331G>C (p.Val111Leu)
|
rs1602748386
|
|
NM_000202.8(IDS):c.333G>T (p.Val111=)
|
rs2124063244
|
|
NM_000202.8(IDS):c.337G>A (p.Ala113Thr)
|
|
|
NM_000202.8(IDS):c.33C>T (p.Leu11=)
|
|
|
NM_000202.8(IDS):c.346T>G (p.Phe116Val)
|
rs2124063192
|
|
NM_000202.8(IDS):c.360C>G (p.Pro120=)
|
|
|
NM_000202.8(IDS):c.361C>T (p.Gln121Ter)
|
rs2124063075
|
|
NM_000202.8(IDS):c.364T>G (p.Tyr122Asp)
|
|
|
NM_000202.8(IDS):c.36G>A (p.Trp12Ter)
|
|
|
NM_000202.8(IDS):c.378T>C (p.Asn126=)
|
rs2124063034
|
|
NM_000202.8(IDS):c.37C>T (p.Leu13=)
|
|
|
NM_000202.8(IDS):c.380G>A (p.Gly127Asp)
|
|
|
NM_000202.8(IDS):c.383A>C (p.Tyr128Ser)
|
rs2124063021
|
|
NM_000202.8(IDS):c.388A>G (p.Thr130Ala)
|
|
|
NM_000202.8(IDS):c.389C>T (p.Thr130Ile)
|
rs1557340233
|
|
NM_000202.8(IDS):c.414C>T (p.His138=)
|
rs1602748259
|
|
NM_000202.8(IDS):c.418+10C>T
|
|
|
NM_000202.8(IDS):c.418+11A>G
|
|
|
NM_000202.8(IDS):c.418+14T>A
|
|
|
NM_000202.8(IDS):c.418+14T>C
|
|
|
NM_000202.8(IDS):c.418+17A>G
|
|
|
NM_000202.8(IDS):c.418+1G>C
|
rs1602748255
|
|
NM_000202.8(IDS):c.418+20G>T
|
|
|
NM_000202.8(IDS):c.418+6_418+7del
|
|
|
NM_000202.8(IDS):c.418+8T>C
|
|
|
NM_000202.8(IDS):c.418+9C>G
|
|
|
NM_000202.8(IDS):c.419-10T>C
|
|
|
NM_000202.8(IDS):c.419-16dup
|
rs781852261
|
|
NM_000202.8(IDS):c.419-17C>G
|
|
|
NM_000202.8(IDS):c.419-1G>A
|
rs1557339927
|
|
NM_000202.8(IDS):c.419-3A>G
|
|
|
NM_000202.8(IDS):c.419-4del
|
|
|
NM_000202.8(IDS):c.419-6del
|
rs781852261
|
|
NM_000202.8(IDS):c.420G>T (p.Gly140=)
|
|
|
NM_000202.8(IDS):c.421A>G (p.Ile141Val)
|
|
|
NM_000202.8(IDS):c.438C>A (p.Thr146=)
|
rs1141608
|
|
NM_000202.8(IDS):c.441T>C (p.Asp147=)
|
|
|
NM_000202.8(IDS):c.448C>T (p.Pro150Ser)
|
|
|
NM_000202.8(IDS):c.450G>T (p.Pro150=)
|
rs201892132
|
|
NM_000202.8(IDS):c.454A>C (p.Ser152Arg)
|
rs2124055504
|
|
NM_000202.8(IDS):c.458G>A (p.Trp153Ter)
|
rs2124055460
|
|
NM_000202.8(IDS):c.465T>C (p.Phe155=)
|
rs149210251
|
|
NM_000202.8(IDS):c.469C>T (p.Pro157Ser)
|
rs864622774
|
|
NM_000202.8(IDS):c.474T>C (p.Tyr158=)
|
|
|
NM_000202.8(IDS):c.480T>A (p.Pro160=)
|
rs2124055254
|
|
NM_000202.8(IDS):c.482C>G (p.Ser161Cys)
|
|
|
NM_000202.8(IDS):c.483C>T (p.Ser161=)
|
rs2124055212
|
|
NM_000202.8(IDS):c.49C>T (p.Leu17=)
|
rs781834400
|
|
NM_000202.8(IDS):c.500A>G (p.Asn167Ser)
|
|
|
NM_000202.8(IDS):c.507+14A>G
|
|
|
NM_000202.8(IDS):c.507+17G>C
|
|
|
NM_000202.8(IDS):c.507+17G>T
|
|
|
NM_000202.8(IDS):c.507+1G>A
|
rs2124055167
|
|
NM_000202.8(IDS):c.507+20A>G
|
|
|
NM_000202.8(IDS):c.507+20A>T
|
|
|
NM_000202.8(IDS):c.507+7C>T
|
rs1225416290
|
|
NM_000202.8(IDS):c.508-15A>G
|
|
|
NM_000202.8(IDS):c.508-19T>A
|
rs2124047400
|
|
NM_000202.8(IDS):c.508-19T>C
|
|
|
NM_000202.8(IDS):c.508-1G>A
|
rs113993947
|
|
NM_000202.8(IDS):c.508-20A>G
|
|
|
NM_000202.8(IDS):c.508-20del
|
|
|
NM_000202.8(IDS):c.508-5G>T
|
rs1889382373
|
|
NM_000202.8(IDS):c.508-8T>G
|
|
|
NM_000202.8(IDS):c.514C>T (p.Arg172Ter)
|
rs104894860
|
|
NM_000202.8(IDS):c.516A>G (p.Arg172=)
|
|
|
NM_000202.8(IDS):c.517G>A (p.Gly173Arg)
|
|
|
NM_000202.8(IDS):c.522A>G (p.Pro174=)
|
rs2124047235
|
|
NM_000202.8(IDS):c.534C>T (p.Leu178=)
|
rs2124047211
|
|
NM_000202.8(IDS):c.540C>T (p.Ala180=)
|
rs2089452510
|
|
NM_000202.8(IDS):c.546G>A (p.Leu182=)
|
|
|
NM_000202.8(IDS):c.54C>T (p.Ser18=)
|
rs782607292
|
|
NM_000202.8(IDS):c.551G>A (p.Cys184Tyr)
|
|
|
NM_000202.8(IDS):c.551G>T (p.Cys184Phe)
|
|
|
NM_000202.8(IDS):c.553C>T (p.Pro185Ser)
|
|
|
NM_000202.8(IDS):c.570T>C (p.Asp190=)
|
|
|
NM_000202.8(IDS):c.575C>G (p.Pro192Arg)
|
|
|
NM_000202.8(IDS):c.576C>G (p.Pro192=)
|
|
|
NM_000202.8(IDS):c.577G>C (p.Glu193Gln)
|
|
|
NM_000202.8(IDS):c.578A>G (p.Glu193Gly)
|
|
|
NM_000202.8(IDS):c.57C>G (p.Ser19=)
|
|
|
NM_000202.8(IDS):c.58G>C (p.Val20Leu)
|
|
|
NM_000202.8(IDS):c.594_595del (p.Asp198fs)
|
rs2124046923
|
|
NM_000202.8(IDS):c.596_599del (p.Lys199fs)
|
rs2089451657
|
|
NM_000202.8(IDS):c.608A>T (p.Glu203Val)
|
rs2124046817
|
|
NM_000202.8(IDS):c.625T>C (p.Leu209=)
|
|
|
NM_000202.8(IDS):c.636G>A (p.Met212Ile)
|
|
|
NM_000202.8(IDS):c.63C>T (p.Cys21=)
|
rs2124069268
|
|
NM_000202.8(IDS):c.642G>A (p.Thr214=)
|
rs1738744298
|
|
NM_000202.8(IDS):c.642G>T (p.Thr214=)
|
rs1738744298
|
|
NM_000202.8(IDS):c.64G>A (p.Val22Ile)
|
|
|
NM_000202.8(IDS):c.653_654del (p.Pro218fs)
|
rs2089450982
|
|
NM_000202.8(IDS):c.669T>G (p.Val223=)
|
rs2124046491
|
|
NM_000202.8(IDS):c.66C>T (p.Val22=)
|
|
|
NM_000202.8(IDS):c.670G>A (p.Gly224Arg)
|
rs2089450754
|
|
NM_000202.8(IDS):c.671G>C (p.Gly224Ala)
|
|
|
NM_000202.8(IDS):c.674A>G (p.Tyr225Cys)
|
|
|
NM_000202.8(IDS):c.686A>G (p.His229Arg)
|
|
|
NM_000202.8(IDS):c.692C>T (p.Pro231Leu)
|
rs2089450305
|
|
NM_000202.8(IDS):c.693C>T (p.Pro231=)
|
rs2124046263
|
|
NM_000202.8(IDS):c.699A>G (p.Arg233=)
|
|
|
NM_000202.8(IDS):c.69C>G (p.Ala23=)
|
rs1602750461
|
|
NM_000202.8(IDS):c.69C>T (p.Ala23=)
|
rs1602750461
|
|
NM_000202.8(IDS):c.702C>A (p.Tyr234Ter)
|
rs1569560489
|
|
NM_000202.8(IDS):c.702C>T (p.Tyr234=)
|
|
|
NM_000202.8(IDS):c.705C>T (p.Pro235=)
|
|
|
NM_000202.8(IDS):c.708+10T>A
|
rs2124046135
|
|
NM_000202.8(IDS):c.708+19G>T
|
|
|
NM_000202.8(IDS):c.708+1G>A
|
rs864622778
|
|
NM_000202.8(IDS):c.708+1G>T
|
rs864622778
|
|
NM_000202.8(IDS):c.708+6G>T
|
|
|
NM_000202.8(IDS):c.729C>T (p.Pro243=)
|
|
|
NM_000202.8(IDS):c.72C>T (p.Leu24=)
|
rs781800570
|
|
NM_000202.8(IDS):c.738C>T (p.Asn246=)
|
|
|
NM_000202.8(IDS):c.744C>T (p.Thr248=)
|
|
|
NM_000202.8(IDS):c.747G>A (p.Leu249=)
|
rs2124041932
|
|
NM_000202.8(IDS):c.749C>T (p.Ala250Val)
|
|
|
NM_000202.8(IDS):c.750C>G (p.Ala250=)
|
|
|
NM_000202.8(IDS):c.754G>T (p.Asp252Tyr)
|
rs146458524
|
|
NM_000202.8(IDS):c.759C>G (p.Pro253=)
|
rs1214276270
|
|
NM_000202.8(IDS):c.771T>A (p.Asp257Glu)
|
|
|
NM_000202.8(IDS):c.773G>A (p.Gly258Asp)
|
rs2124041717
|
|
NM_000202.8(IDS):c.777A>T (p.Leu259=)
|
rs782773319
|
|
NM_000202.8(IDS):c.780C>T (p.Pro260=)
|
|
|
NM_000202.8(IDS):c.781C>A (p.Pro261Thr)
|
rs141720810
|
|
NM_000202.8(IDS):c.781C>T (p.Pro261Ser)
|
rs141720810
|
|
NM_000202.8(IDS):c.782C>T (p.Pro261Leu)
|
|
|
NM_000202.8(IDS):c.782del (p.Pro261fs)
|
|
|
NM_000202.8(IDS):c.783T>C (p.Pro261=)
|
|
|
NM_000202.8(IDS):c.78C>A (p.Ser26=)
|
|
|
NM_000202.8(IDS):c.795C>A (p.Asn265Lys)
|
rs1207417919
|
|
NM_000202.8(IDS):c.795C>T (p.Asn265=)
|
|
|
NM_000202.8(IDS):c.801G>T (p.Trp267Cys)
|
rs2124041510
|
|
NM_000202.8(IDS):c.806A>G (p.Asp269Gly)
|
rs1085308006
|
|
NM_000202.8(IDS):c.813G>A (p.Arg271=)
|
|
|
NM_000202.8(IDS):c.816A>G (p.Gln272=)
|
|
|
NM_000202.8(IDS):c.819G>A (p.Arg273=)
|
|
|
NM_000202.8(IDS):c.823G>A (p.Asp275Asn)
|
|
|
NM_000202.8(IDS):c.823G>T (p.Asp275Tyr)
|
|
|
NM_000202.8(IDS):c.826G>A (p.Val276Ile)
|
|
|
NM_000202.8(IDS):c.826G>C (p.Val276Leu)
|
rs200694354
|
|
NM_000202.8(IDS):c.833C>T (p.Ala278Val)
|
|
|
NM_000202.8(IDS):c.834C>T (p.Ala278=)
|
rs2124041303
|
|
NM_000202.8(IDS):c.838_842del (p.Asn280fs)
|
rs2089436271
|
|
NM_000202.8(IDS):c.846T>C (p.Ser282=)
|
|
|
NM_000202.8(IDS):c.84G>T (p.Thr28=)
|
rs1194554189
|
|
NM_000202.8(IDS):c.858T>G (p.Gly286=)
|
|
|
NM_000202.8(IDS):c.866C>T (p.Pro289Leu)
|
|
|
NM_000202.8(IDS):c.876T>G (p.Phe292Leu)
|
|
|
NM_000202.8(IDS):c.878A>G (p.Gln293Arg)
|
rs2089435877
|
|
NM_000202.8(IDS):c.879+10A>G
|
rs2124041048
|
|
NM_000202.8(IDS):c.879+11del
|
|
|
NM_000202.8(IDS):c.879+12A>G
|
|
|
NM_000202.8(IDS):c.879+14A>G
|
|
|
NM_000202.8(IDS):c.879+17T>G
|
|
|
NM_000202.8(IDS):c.879+20G>A
|
|
|
NM_000202.8(IDS):c.879+7A>G
|
|
|
NM_000202.8(IDS):c.879+9G>C
|
|
|
NM_000202.8(IDS):c.880-11del
|
|
|
NM_000202.8(IDS):c.880-11dup
|
|
|
NM_000202.8(IDS):c.880-19A>T
|
|
|
NM_000202.8(IDS):c.880-19del
|
|
|
NM_000202.8(IDS):c.880-20T>A
|
|
|
NM_000202.8(IDS):c.880-2A>C
|
|
|
NM_000202.8(IDS):c.880-2_880-1delinsCC
|
|
|
NM_000202.8(IDS):c.880-4G>A
|
|
|
NM_000202.8(IDS):c.880-5del
|
rs1458652265
|
|
NM_000202.8(IDS):c.880C>T (p.Arg294Trp)
|
|
|
NM_000202.8(IDS):c.88_89insAT (p.Ala30fs)
|
rs1602750400
|
|
NM_000202.8(IDS):c.890G>A (p.Arg297His)
|
|
|
NM_000202.8(IDS):c.898T>G (p.Tyr300Asp)
|
rs2089380312
|
|
NM_000202.8(IDS):c.909T>C (p.Ser303=)
|
|
|
NM_000202.8(IDS):c.913T>C (p.Ser305Pro)
|
rs2124020632
|
|
NM_000202.8(IDS):c.92A>G (p.Asn31Ser)
|
|
|
NM_000202.8(IDS):c.931G>C (p.Val311Leu)
|
|
|
NM_000202.8(IDS):c.931G>T (p.Val311Phe)
|
|
|
NM_000202.8(IDS):c.954G>A (p.Leu318=)
|
rs2124020303
|
|
NM_000202.8(IDS):c.957C>A (p.Asp319Glu)
|
rs782488487
|
|
NM_000202.8(IDS):c.958G>A (p.Asp320Asn)
|
rs2089379111
|
|
NM_000202.8(IDS):c.966G>A (p.Gln322=)
|
rs2124020165
|
|
NM_000202.8(IDS):c.967C>T (p.Leu323=)
|
rs2124020149
|
|
NM_000202.8(IDS):c.970G>A (p.Ala324Thr)
|
|
|
NM_000202.8(IDS):c.974A>G (p.Asn325Ser)
|
|
|
NM_000202.8(IDS):c.978C>T (p.Ser326=)
|
|
|
NM_000202.8(IDS):c.984del (p.Ile329fs)
|
rs1602734459
|
|
NM_000202.8(IDS):c.98C>T (p.Thr33Ile)
|
|
|
NM_000202.8(IDS):c.995C>T (p.Thr332Ile)
|
|
|
NM_000202.8(IDS):c.998C>G (p.Ser333Trp)
|
rs104894853
|
|
NM_000202.8(IDS):c.998C>T (p.Ser333Leu)
|
rs104894853
|
|