NM_015602.4(TOR1AIP1):c.1503G>A (p.Ala501=)
|
rs627897
|
0.93133
|
NM_015602.4(TOR1AIP1):c.554-4G>A
|
rs2245425
|
0.58997
|
NM_015602.4(TOR1AIP1):c.827C>G (p.Pro276Arg)
|
rs609521
|
0.54825
|
NM_015602.4(TOR1AIP1):c.879A>C (p.Gln293His)
|
rs17279712
|
0.05445
|
NM_015602.4(TOR1AIP1):c.964+17A>G
|
rs17370826
|
0.05277
|
NM_015602.4(TOR1AIP1):c.909T>C (p.Asn303=)
|
rs115742637
|
0.01001
|
NM_015602.4(TOR1AIP1):c.1147G>A (p.Asp383Asn)
|
rs149690630
|
0.00215
|
NM_015602.4(TOR1AIP1):c.576G>A (p.Arg192=)
|
rs146164995
|
0.00116
|
NM_015602.4(TOR1AIP1):c.531_532insTCA (p.Val177_Arg178insSer)
|
rs145521179
|
0.00041
|
NM_015602.4(TOR1AIP1):c.948A>G (p.Pro316=)
|
rs573163000
|
0.00040
|
NM_015602.4(TOR1AIP1):c.554-23G>A
|
rs374091003
|
0.00037
|
NM_015602.4(TOR1AIP1):c.965-10del
|
rs769057969
|
0.00035
|
NM_015602.4(TOR1AIP1):c.580C>T (p.Arg194Cys)
|
rs534816625
|
0.00018
|
NM_015602.4(TOR1AIP1):c.1329G>T (p.Arg443=)
|
rs147566573
|
0.00016
|
NM_015602.4(TOR1AIP1):c.838+3A>G
|
rs139072070
|
0.00015
|
NM_015602.4(TOR1AIP1):c.1140A>C (p.Gln380His)
|
rs139364730
|
0.00011
|
NM_015602.4(TOR1AIP1):c.1614C>A (p.Val538=)
|
rs369998144
|
0.00011
|
NM_015602.4(TOR1AIP1):c.1319G>A (p.Arg440His)
|
rs145065164
|
0.00009
|
NM_015602.4(TOR1AIP1):c.1381G>T (p.Val461Leu)
|
rs368563369
|
0.00008
|
NM_015602.4(TOR1AIP1):c.661G>A (p.Glu221Lys)
|
rs377110579
|
0.00008
|
NM_015602.4(TOR1AIP1):c.808A>G (p.Thr270Ala)
|
rs780046037
|
0.00008
|
NM_015602.4(TOR1AIP1):c.1439G>A (p.Arg480His)
|
rs745350340
|
0.00007
|
NM_015602.4(TOR1AIP1):c.512C>T (p.Thr171Met)
|
rs150816990
|
0.00007
|
NM_015602.4(TOR1AIP1):c.1210C>T (p.Arg404Trp)
|
rs541059100
|
0.00006
|
NM_015602.4(TOR1AIP1):c.1427C>T (p.Ala476Val)
|
rs201518227
|
0.00006
|
NM_015602.4(TOR1AIP1):c.638A>G (p.Asn213Ser)
|
rs200495464
|
0.00005
|
NM_015602.4(TOR1AIP1):c.1098A>G (p.Gln366=)
|
rs139032980
|
0.00004
|
NM_015602.4(TOR1AIP1):c.1355A>G (p.Gln452Arg)
|
rs374418323
|
0.00004
|
NM_015602.4(TOR1AIP1):c.1455C>T (p.Pro485=)
|
rs750693473
|
0.00004
|
NM_015602.4(TOR1AIP1):c.1456G>A (p.Ala486Thr)
|
rs138345857
|
0.00004
|
NM_015602.4(TOR1AIP1):c.619A>G (p.Ser207Gly)
|
rs759786680
|
0.00004
|
NM_015602.4(TOR1AIP1):c.621T>C (p.Ser207=)
|
rs765405746
|
0.00004
|
NM_015602.4(TOR1AIP1):c.944C>T (p.Ser315Leu)
|
rs201979642
|
0.00004
|
NM_015602.4(TOR1AIP1):c.983A>G (p.Gln328Arg)
|
rs748527858
|
0.00004
|
NM_015602.4(TOR1AIP1):c.1254T>C (p.Ala418=)
|
rs778246364
|
0.00003
|
NM_015602.4(TOR1AIP1):c.1617G>A (p.Lys539=)
|
rs188831879
|
0.00003
|
NM_015602.4(TOR1AIP1):c.1651C>G (p.His551Asp)
|
rs756853004
|
0.00003
|
NM_015602.4(TOR1AIP1):c.554-1G>A
|
rs200993053
|
0.00003
|
NM_015602.4(TOR1AIP1):c.857C>T (p.Thr286Ile)
|
rs767019881
|
0.00003
|
NM_015602.4(TOR1AIP1):c.919C>T (p.Leu307=)
|
rs1037138752
|
0.00003
|
NM_015602.4(TOR1AIP1):c.1155G>A (p.Lys385=)
|
rs777945456
|
0.00002
|
NM_015602.4(TOR1AIP1):c.1298A>G (p.Tyr433Cys)
|
rs201975339
|
0.00002
|
NM_015602.4(TOR1AIP1):c.1328G>A (p.Arg443Gln)
|
rs148871236
|
0.00002
|
NM_015602.4(TOR1AIP1):c.493C>G (p.Gln165Glu)
|
rs142574917
|
0.00002
|
NM_015602.4(TOR1AIP1):c.796+5G>A
|
rs774612888
|
0.00002
|
NM_015602.4(TOR1AIP1):c.884C>T (p.Ala295Val)
|
rs147648930
|
0.00002
|
NM_015602.4(TOR1AIP1):c.1010G>A (p.Arg337Gln)
|
rs576474780
|
0.00001
|
NM_015602.4(TOR1AIP1):c.1012T>C (p.Trp338Arg)
|
rs769461759
|
0.00001
|
NM_015602.4(TOR1AIP1):c.1074T>A (p.Pro358=)
|
rs753180473
|
0.00001
|
NM_015602.4(TOR1AIP1):c.1163A>C (p.Lys388Thr)
|
rs367617812
|
0.00001
|
NM_015602.4(TOR1AIP1):c.1200C>T (p.Ser400=)
|
rs766692812
|
0.00001
|
NM_015602.4(TOR1AIP1):c.1241C>G (p.Ala414Gly)
|
rs757678339
|
0.00001
|
NM_015602.4(TOR1AIP1):c.1260A>G (p.Glu420=)
|
rs1290274195
|
0.00001
|
NM_015602.4(TOR1AIP1):c.1282C>G (p.Gln428Glu)
|
rs772076024
|
0.00001
|
NM_015602.4(TOR1AIP1):c.1327C>T (p.Arg443Trp)
|
rs763037095
|
0.00001
|
NM_015602.4(TOR1AIP1):c.1465A>G (p.Thr489Ala)
|
rs375127929
|
0.00001
|
NM_015602.4(TOR1AIP1):c.1711G>T (p.Val571Leu)
|
rs908965605
|
0.00001
|
NM_015602.4(TOR1AIP1):c.1749A>G (p.Leu583=)
|
rs200313537
|
0.00001
|
NM_015602.4(TOR1AIP1):c.519A>G (p.Ser173=)
|
rs1458152047
|
0.00001
|
NM_015602.4(TOR1AIP1):c.537C>T (p.Ser179=)
|
rs764887380
|
0.00001
|
NM_015602.4(TOR1AIP1):c.543A>G (p.Gln181=)
|
rs150530440
|
0.00001
|
NM_015602.4(TOR1AIP1):c.553+10G>A
|
rs1397979237
|
0.00001
|
NM_015602.4(TOR1AIP1):c.555G>A (p.Val185=)
|
rs769367527
|
0.00001
|
NM_015602.4(TOR1AIP1):c.581G>A (p.Arg194His)
|
rs761858266
|
0.00001
|
NM_015602.4(TOR1AIP1):c.600C>T (p.Tyr200=)
|
rs754181614
|
0.00001
|
NM_015602.4(TOR1AIP1):c.611-10T>A
|
rs1425465064
|
0.00001
|
NM_015602.4(TOR1AIP1):c.646G>T (p.Glu216Ter)
|
rs778326858
|
0.00001
|
NM_015602.4(TOR1AIP1):c.678C>T (p.Asp226=)
|
rs747798408
|
0.00001
|
NM_015602.4(TOR1AIP1):c.696C>G (p.Val232=)
|
rs570033626
|
0.00001
|
NM_015602.4(TOR1AIP1):c.755C>T (p.Ser252Leu)
|
rs1198939008
|
0.00001
|
NM_015602.4(TOR1AIP1):c.765A>G (p.Gln255=)
|
rs1267582449
|
0.00001
|
NM_015602.4(TOR1AIP1):c.768T>C (p.Tyr256=)
|
rs769611384
|
0.00001
|
NM_015602.4(TOR1AIP1):c.794A>G (p.Gln265Arg)
|
rs768807943
|
0.00001
|
NM_015602.4(TOR1AIP1):c.825A>G (p.Gln275=)
|
rs760875856
|
0.00001
|
NM_015602.4(TOR1AIP1):c.864G>A (p.Gln288=)
|
rs765961500
|
0.00001
|
NM_015602.4(TOR1AIP1):c.907A>G (p.Asn303Asp)
|
rs770895707
|
0.00001
|
NM_015602.4(TOR1AIP1):c.962G>A (p.Arg321Gln)
|
rs1045988718
|
0.00001
|
NM_015602.4(TOR1AIP1):c.964+5G>A
|
rs561816881
|
0.00001
|
NM_015602.4(TOR1AIP1):c.965-3T>C
|
rs755443913
|
0.00001
|
NC_000001.10:g.(?_179876938)_(179877828_?)del
|
|
|
NM_015602.4(TOR1AIP1):c.1020A>G (p.Leu340=)
|
|
|
NM_015602.4(TOR1AIP1):c.1036G>A (p.Ala346Thr)
|
|
|
NM_015602.4(TOR1AIP1):c.1037C>A (p.Ala346Asp)
|
|
|
NM_015602.4(TOR1AIP1):c.1044C>G (p.Ala348=)
|
|
|
NM_015602.4(TOR1AIP1):c.1052G>C (p.Ser351Thr)
|
|
|
NM_015602.4(TOR1AIP1):c.1062C>T (p.Phe354=)
|
|
|
NM_015602.4(TOR1AIP1):c.1065T>C (p.Phe355=)
|
|
|
NM_015602.4(TOR1AIP1):c.1078G>A (p.Val360Ile)
|
|
|
NM_015602.4(TOR1AIP1):c.1088C>G (p.Thr363Ser)
|
|
|
NM_015602.4(TOR1AIP1):c.1133dup (p.Tyr379fs)
|
|
|
NM_015602.4(TOR1AIP1):c.1173A>G (p.Gln391=)
|
|
|
NM_015602.4(TOR1AIP1):c.1197T>C (p.Asn399=)
|
|
|
NM_015602.4(TOR1AIP1):c.1199G>A (p.Ser400Asn)
|
|
|
NM_015602.4(TOR1AIP1):c.1211G>A (p.Arg404Gln)
|
|
|
NM_015602.4(TOR1AIP1):c.1223C>G (p.Ala408Gly)
|
rs1649063593
|
|
NM_015602.4(TOR1AIP1):c.1225A>G (p.Ile409Val)
|
rs752847821
|
|
NM_015602.4(TOR1AIP1):c.1226T>G (p.Ile409Ser)
|
rs1649063848
|
|
NM_015602.4(TOR1AIP1):c.1244C>T (p.Ala415Val)
|
|
|
NM_015602.4(TOR1AIP1):c.1248A>C (p.Arg416=)
|
|
|
NM_015602.4(TOR1AIP1):c.1250A>T (p.Asp417Val)
|
|
|
NM_015602.4(TOR1AIP1):c.1279del (p.Glu427fs)
|
|
|
NM_015602.4(TOR1AIP1):c.1309C>T (p.Arg437Cys)
|
rs1649066648
|
|
NM_015602.4(TOR1AIP1):c.1313G>A (p.Ser438Asn)
|
rs1649066917
|
|
NM_015602.4(TOR1AIP1):c.1323C>T (p.Ala441=)
|
|
|
NM_015602.4(TOR1AIP1):c.1330A>G (p.Ile444Val)
|
rs1571740939
|
|
NM_015602.4(TOR1AIP1):c.1332T>C (p.Ile444=)
|
rs2148484230
|
|
NM_015602.4(TOR1AIP1):c.1334A>T (p.Asp445Val)
|
|
|
NM_015602.4(TOR1AIP1):c.1344T>G (p.Asp448Glu)
|
|
|
NM_015602.4(TOR1AIP1):c.1356A>G (p.Gln452=)
|
rs2148484242
|
|
NM_015602.4(TOR1AIP1):c.1389A>G (p.Gln463=)
|
|
|
NM_015602.4(TOR1AIP1):c.1410G>A (p.Lys470=)
|
rs1330669600
|
|
NM_015602.4(TOR1AIP1):c.1416C>A (p.Gly472=)
|
rs1649072423
|
|
NM_015602.4(TOR1AIP1):c.1419G>T (p.Gln473His)
|
|
|
NM_015602.4(TOR1AIP1):c.1441T>G (p.Phe481Val)
|
rs762266968
|
|
NM_015602.4(TOR1AIP1):c.1465A>T (p.Thr489Ser)
|
rs375127929
|
|
NM_015602.4(TOR1AIP1):c.1471A>T (p.Ile491Phe)
|
|
|
NM_015602.4(TOR1AIP1):c.1477T>C (p.Tyr493His)
|
rs1571741081
|
|
NM_015602.4(TOR1AIP1):c.1478A>G (p.Tyr493Cys)
|
rs1571741085
|
|
NM_015602.4(TOR1AIP1):c.1495G>A (p.Glu499Lys)
|
rs2148484301
|
|
NM_015602.4(TOR1AIP1):c.1568T>A (p.Leu523Gln)
|
rs201388189
|
|
NM_015602.4(TOR1AIP1):c.1604T>C (p.Phe535Ser)
|
rs1649081168
|
|
NM_015602.4(TOR1AIP1):c.1609A>G (p.Lys537Glu)
|
rs1558048637
|
|
NM_015602.4(TOR1AIP1):c.1613T>A (p.Val538Asp)
|
rs774345665
|
|
NM_015602.4(TOR1AIP1):c.1646A>G (p.Tyr549Cys)
|
rs762657793
|
|
NM_015602.4(TOR1AIP1):c.1649A>G (p.Asn550Ser)
|
rs567959058
|
|
NM_015602.4(TOR1AIP1):c.1677C>T (p.Gly559=)
|
|
|
NM_015602.4(TOR1AIP1):c.1688G>A (p.Arg563His)
|
rs748833315
|
|
NM_015602.4(TOR1AIP1):c.1688G>T (p.Arg563Leu)
|
|
|
NM_015602.4(TOR1AIP1):c.1695T>C (p.Ser565=)
|
rs1247999628
|
|
NM_015602.4(TOR1AIP1):c.1701A>G (p.Leu567=)
|
rs768805915
|
|
NM_015602.4(TOR1AIP1):c.1705C>A (p.Leu569Met)
|
rs2148484421
|
|
NM_015602.4(TOR1AIP1):c.1721_1722insT (p.Glu574fs)
|
|
|
NM_015602.4(TOR1AIP1):c.1743C>A (p.Ile581=)
|
|
|
NM_015602.4(TOR1AIP1):c.1750T>A (p.Ter584Lys)
|
rs1649088273
|
|
NM_015602.4(TOR1AIP1):c.476-20T>G
|
|
|
NM_015602.4(TOR1AIP1):c.476-20_476-19del
|
|
|
NM_015602.4(TOR1AIP1):c.476-3dup
|
|
|
NM_015602.4(TOR1AIP1):c.476-9_476-8del
|
|
|
NM_015602.4(TOR1AIP1):c.480T>C (p.Asp160=)
|
rs1571720833
|
|
NM_015602.4(TOR1AIP1):c.485C>T (p.Ala162Val)
|
|
|
NM_015602.4(TOR1AIP1):c.507C>A (p.Ser169Arg)
|
|
|
NM_015602.4(TOR1AIP1):c.514A>G (p.Ile172Val)
|
rs1571720874
|
|
NM_015602.4(TOR1AIP1):c.518C>T (p.Ser173Leu)
|
rs2148469972
|
|
NM_015602.4(TOR1AIP1):c.525A>G (p.Lys175=)
|
rs2148469973
|
|
NM_015602.4(TOR1AIP1):c.527C>G (p.Thr176Ser)
|
|
|
NM_015602.4(TOR1AIP1):c.529G>A (p.Val177Ile)
|
rs776120444
|
|
NM_015602.4(TOR1AIP1):c.531C>T (p.Val177=)
|
|
|
NM_015602.4(TOR1AIP1):c.540A>C (p.Ile180=)
|
|
|
NM_015602.4(TOR1AIP1):c.540A>T (p.Ile180=)
|
rs752159540
|
|
NM_015602.4(TOR1AIP1):c.548C>G (p.Ala183Gly)
|
rs1647864922
|
|
NM_015602.4(TOR1AIP1):c.553+10G>C
|
|
|
NM_015602.4(TOR1AIP1):c.553+14A>G
|
|
|
NM_015602.4(TOR1AIP1):c.553+1G>A
|
rs1180978840
|
|
NM_015602.4(TOR1AIP1):c.553+1_553+10del
|
rs750028739
|
|
NM_015602.4(TOR1AIP1):c.554-10A>G
|
|
|
NM_015602.4(TOR1AIP1):c.554-11T>G
|
|
|
NM_015602.4(TOR1AIP1):c.554-12del
|
|
|
NM_015602.4(TOR1AIP1):c.554-4_554-1delinsAC
|
rs1647993845
|
|
NM_015602.4(TOR1AIP1):c.570A>G (p.Val190=)
|
|
|
NM_015602.4(TOR1AIP1):c.583C>T (p.Arg195Ter)
|
|
|
NM_015602.4(TOR1AIP1):c.584G>A (p.Arg195Gln)
|
|
|
NM_015602.4(TOR1AIP1):c.592C>A (p.Leu198Ile)
|
rs1647995889
|
|
NM_015602.4(TOR1AIP1):c.609T>C (p.Tyr203=)
|
rs200022019
|
|
NM_015602.4(TOR1AIP1):c.610+13_610+16del
|
rs768607346
|
|
NM_015602.4(TOR1AIP1):c.610+3A>G
|
rs1647996916
|
|
NM_015602.4(TOR1AIP1):c.610+7G>T
|
|
|
NM_015602.4(TOR1AIP1):c.611-16T>C
|
|
|
NM_015602.4(TOR1AIP1):c.611-17A>G
|
rs1461099412
|
|
NM_015602.4(TOR1AIP1):c.611-20T>C
|
|
|
NM_015602.4(TOR1AIP1):c.611-8dup
|
rs771143442
|
|
NM_015602.4(TOR1AIP1):c.633G>A (p.Lys211=)
|
|
|
NM_015602.4(TOR1AIP1):c.652+18A>G
|
|
|
NM_015602.4(TOR1AIP1):c.653-13T>A
|
|
|
NM_015602.4(TOR1AIP1):c.653-17T>C
|
|
|
NM_015602.4(TOR1AIP1):c.653-4_653-3del
|
|
|
NM_015602.4(TOR1AIP1):c.653-6C>A
|
|
|
NM_015602.4(TOR1AIP1):c.653-6C>T
|
rs200800578
|
|
NM_015602.4(TOR1AIP1):c.653-8C>T
|
|
|
NM_015602.4(TOR1AIP1):c.653G>C (p.Gly218Ala)
|
|
|
NM_015602.4(TOR1AIP1):c.663AGA[1] (p.Glu222del)
|
rs758018677
|
|
NM_015602.4(TOR1AIP1):c.663del (p.Glu222fs)
|
rs1648457474
|
|
NM_015602.4(TOR1AIP1):c.666A>T (p.Glu222Asp)
|
|
|
NM_015602.4(TOR1AIP1):c.676G>C (p.Asp226His)
|
rs2148477008
|
|
NM_015602.4(TOR1AIP1):c.700A>G (p.Thr234Ala)
|
rs2148477026
|
|
NM_015602.4(TOR1AIP1):c.701C>T (p.Thr234Ile)
|
|
|
NM_015602.4(TOR1AIP1):c.739+17T>C
|
|
|
NM_015602.4(TOR1AIP1):c.739+19C>T
|
rs1224167074
|
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NM_015602.4(TOR1AIP1):c.739+1G>A
|
rs900977276
|
|
NM_015602.4(TOR1AIP1):c.739+7T>C
|
rs1277758555
|
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NM_015602.4(TOR1AIP1):c.739+9G>C
|
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|
NM_015602.4(TOR1AIP1):c.750C>T (p.Thr250=)
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|
NM_015602.4(TOR1AIP1):c.751A>G (p.Arg251Gly)
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|
NM_015602.4(TOR1AIP1):c.763C>T (p.Gln255Ter)
|
rs1648544786
|
|
NM_015602.4(TOR1AIP1):c.769A>G (p.Ile257Val)
|
rs775100134
|
|
NM_015602.4(TOR1AIP1):c.770T>C (p.Ile257Thr)
|
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|
NM_015602.4(TOR1AIP1):c.780T>C (p.Phe260=)
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NM_015602.4(TOR1AIP1):c.791C>T (p.Ser264Leu)
|
rs1648545614
|
|
NM_015602.4(TOR1AIP1):c.797-20A>C
|
|
|
NM_015602.4(TOR1AIP1):c.797-2A>T
|
rs756798409
|
|
NM_015602.4(TOR1AIP1):c.826_827delinsTG (p.Pro276Cys)
|
rs2148480005
|
|
NM_015602.4(TOR1AIP1):c.827_828delinsGC (p.Pro276Arg)
|
rs1648699740
|
|
NM_015602.4(TOR1AIP1):c.830C>G (p.Ser277Ter)
|
rs2148480016
|
|
NM_015602.4(TOR1AIP1):c.838+11G>A
|
|
|
NM_015602.4(TOR1AIP1):c.838+2T>A
|
|
|
NM_015602.4(TOR1AIP1):c.839-13G>A
|
rs1428313902
|
|
NM_015602.4(TOR1AIP1):c.839-16T>C
|
|
|
NM_015602.4(TOR1AIP1):c.846A>T (p.Gly282=)
|
|
|
NM_015602.4(TOR1AIP1):c.852A>C (p.Gln284His)
|
rs775959429
|
|
NM_015602.4(TOR1AIP1):c.855A>C (p.Lys285Asn)
|
rs1558045449
|
|
NM_015602.4(TOR1AIP1):c.894G>A (p.Arg298=)
|
|
|
NM_015602.4(TOR1AIP1):c.895A>G (p.Thr299Ala)
|
|
|
NM_015602.4(TOR1AIP1):c.900G>A (p.Arg300=)
|
|
|
NM_015602.4(TOR1AIP1):c.906_907+5del
|
rs1571735403
|
|
NM_015602.4(TOR1AIP1):c.907+1G>A
|
|
|
NM_015602.4(TOR1AIP1):c.907+6T>G
|
rs1648731719
|
|
NM_015602.4(TOR1AIP1):c.908-5A>G
|
|
|
NM_015602.4(TOR1AIP1):c.908-7C>A
|
rs745887150
|
|
NM_015602.4(TOR1AIP1):c.931C>G (p.Leu311Val)
|
rs2148482585
|
|
NM_015602.4(TOR1AIP1):c.938A>G (p.Asn313Ser)
|
rs1571738635
|
|
NM_015602.4(TOR1AIP1):c.952dup (p.Thr318fs)
|
rs1571738652
|
|
NM_015602.4(TOR1AIP1):c.961C>T (p.Arg321Ter)
|
rs11581962
|
|
NM_015602.4(TOR1AIP1):c.964+1G>A
|
rs2274955
|
|
NM_015602.4(TOR1AIP1):c.964+1G>C
|
|
|
NM_015602.4(TOR1AIP1):c.964C>T (p.Gln322Ter)
|
|
|
NM_015602.4(TOR1AIP1):c.965-15T>C
|
rs1558048250
|
|
NM_015602.4(TOR1AIP1):c.990A>G (p.Ala330=)
|
rs2148484010
|
|
NM_015602.4(TOR1AIP1):c.999C>T (p.Val333=)
|
rs1571740598
|
|