NM_020738.4(KIDINS220):c.4947C>G (p.Asp1649Glu)
|
rs202094672
|
0.00127
|
NM_001122955.4(BSCL2):c.299G>T (p.Cys100Phe)
|
rs147314661
|
0.00023
|
NM_002860.4(ALDH18A1):c.148A>G (p.Thr50Ala)
|
rs374047257
|
0.00015
|
NM_002860.4(ALDH18A1):c.1376G>A (p.Arg459Gln)
|
rs771386671
|
0.00014
|
NM_002860.4(ALDH18A1):c.986A>G (p.Asn329Ser)
|
rs141291042
|
0.00014
|
NM_002860.4(ALDH18A1):c.1946A>G (p.Lys649Arg)
|
rs145197911
|
0.00011
|
NM_002860.4(ALDH18A1):c.589G>C (p.Glu197Gln)
|
rs201691969
|
0.00010
|
NM_020738.4(KIDINS220):c.207+3A>G
|
rs374940372
|
0.00010
|
NM_002860.4(ALDH18A1):c.1264C>G (p.Leu422Val)
|
rs142712849
|
0.00009
|
NM_002860.4(ALDH18A1):c.194G>T (p.Ser65Ile)
|
rs142746793
|
0.00009
|
NM_001122955.4(BSCL2):c.1202G>A (p.Gly401Glu)
|
rs767463971
|
0.00008
|
NM_002860.4(ALDH18A1):c.868G>A (p.Gly290Arg)
|
rs368147360
|
0.00008
|
NM_002860.4(ALDH18A1):c.1604T>A (p.Leu535Gln)
|
rs200452017
|
0.00007
|
NM_002860.4(ALDH18A1):c.2110+13A>G
|
rs375782465
|
0.00007
|
NM_002860.4(ALDH18A1):c.973G>A (p.Val325Ile)
|
rs192770256
|
0.00007
|
NM_001122955.4(BSCL2):c.1147G>A (p.Gly383Arg)
|
rs772516974
|
0.00006
|
NM_002860.4(ALDH18A1):c.1631A>G (p.Asp544Gly)
|
rs372744264
|
0.00006
|
NM_002860.4(ALDH18A1):c.1867G>A (p.Asp623Asn)
|
rs770815414
|
0.00006
|
NM_001122955.4(BSCL2):c.1145C>T (p.Ser382Leu)
|
rs149907021
|
0.00004
|
NM_001122955.4(BSCL2):c.1282C>T (p.Pro428Ser)
|
rs369732238
|
0.00004
|
NM_001122955.4(BSCL2):c.359A>G (p.Tyr120Cys)
|
rs370905417
|
0.00004
|
NM_001122955.4(BSCL2):c.934G>A (p.Val312Ile)
|
rs754683462
|
0.00004
|
NM_002860.4(ALDH18A1):c.1112G>A (p.Arg371Gln)
|
rs745614904
|
0.00004
|
NM_002860.4(ALDH18A1):c.1351G>A (p.Val451Met)
|
rs111344269
|
0.00004
|
NM_002860.4(ALDH18A1):c.1393G>A (p.Glu465Lys)
|
rs757876226
|
0.00004
|
NM_002860.4(ALDH18A1):c.169C>A (p.His57Asn)
|
rs200858692
|
0.00004
|
NM_002860.4(ALDH18A1):c.1800A>G (p.Leu600=)
|
rs141192935
|
0.00004
|
NM_002860.4(ALDH18A1):c.1865G>A (p.Arg622Gln)
|
rs774274057
|
0.00004
|
NM_002860.4(ALDH18A1):c.2177G>A (p.Arg726His)
|
rs773714478
|
0.00004
|
NM_002860.4(ALDH18A1):c.2276C>T (p.Thr759Ile)
|
rs781126562
|
0.00004
|
NM_002860.4(ALDH18A1):c.304-3C>T
|
rs188362786
|
0.00004
|
NM_002860.4(ALDH18A1):c.847C>T (p.Leu283Phe)
|
rs747291828
|
0.00004
|
NM_002860.4(ALDH18A1):c.88C>T (p.His30Tyr)
|
rs113678237
|
0.00004
|
NM_001122955.4(BSCL2):c.1168G>A (p.Glu390Lys)
|
rs141518903
|
0.00003
|
NM_001122955.4(BSCL2):c.443T>C (p.Phe148Ser)
|
rs751277966
|
0.00003
|
NM_001122955.4(BSCL2):c.773C>T (p.Pro258Leu)
|
rs769219167
|
0.00003
|
NM_002860.4(ALDH18A1):c.1027A>G (p.Ile343Val)
|
rs371294018
|
0.00003
|
NM_002860.4(ALDH18A1):c.1190C>T (p.Thr397Met)
|
rs769823561
|
0.00003
|
NM_002860.4(ALDH18A1):c.122G>A (p.Arg41His)
|
rs192921117
|
0.00003
|
NM_002860.4(ALDH18A1):c.1237G>A (p.Glu413Lys)
|
rs147348068
|
0.00003
|
NM_002860.4(ALDH18A1):c.1417A>G (p.Ile473Val)
|
rs373239891
|
0.00003
|
NM_002860.4(ALDH18A1):c.1540C>T (p.Arg514Trp)
|
rs770442555
|
0.00003
|
NM_002860.4(ALDH18A1):c.2176C>T (p.Arg726Cys)
|
rs202169492
|
0.00003
|
NM_002860.4(ALDH18A1):c.2383A>G (p.Asn795Asp)
|
rs747918055
|
0.00003
|
NM_002860.4(ALDH18A1):c.709G>C (p.Gly237Arg)
|
rs201841420
|
0.00003
|
NM_020738.4(KIDINS220):c.299G>A (p.Arg100His)
|
rs368435770
|
0.00003
|
NM_001122955.4(BSCL2):c.1034G>A (p.Arg345Gln)
|
rs202072835
|
0.00002
|
NM_001122955.4(BSCL2):c.199A>C (p.Asn67His)
|
rs1057524897
|
0.00002
|
NM_001122955.4(BSCL2):c.62A>T (p.Gln21Leu)
|
rs1006065298
|
0.00002
|
NM_001122955.4(BSCL2):c.986G>A (p.Arg329Gln)
|
rs771322168
|
0.00002
|
NM_002860.4(ALDH18A1):c.1198C>T (p.Arg400Cys)
|
rs907590719
|
0.00002
|
NM_002860.4(ALDH18A1):c.1358G>A (p.Arg453His)
|
rs765122458
|
0.00002
|
NM_002860.4(ALDH18A1):c.1366C>T (p.Arg456Cys)
|
rs763868475
|
0.00002
|
NM_002860.4(ALDH18A1):c.1367G>A (p.Arg456His)
|
rs760865106
|
0.00002
|
NM_002860.4(ALDH18A1):c.2098G>A (p.Val700Ile)
|
rs375705932
|
0.00002
|
NM_002860.4(ALDH18A1):c.2109C>T (p.Asp703=)
|
rs779516879
|
0.00002
|
NM_002860.4(ALDH18A1):c.2294G>A (p.Arg765Gln)
|
rs537043237
|
0.00002
|
NM_002860.4(ALDH18A1):c.2308G>A (p.Val770Met)
|
rs369153920
|
0.00002
|
NM_002860.4(ALDH18A1):c.599G>A (p.Arg200His)
|
rs746256246
|
0.00002
|
NM_002860.4(ALDH18A1):c.786G>C (p.Leu262Phe)
|
rs1380580792
|
0.00002
|
NM_001122955.4(BSCL2):c.1022G>A (p.Arg341Lys)
|
rs144725547
|
0.00001
|
NM_001122955.4(BSCL2):c.1049G>A (p.Arg350Gln)
|
rs749917957
|
0.00001
|
NM_001122955.4(BSCL2):c.1069C>T (p.Pro357Ser)
|
rs781022347
|
0.00001
|
NM_001122955.4(BSCL2):c.1071A>G (p.Pro357=)
|
rs113336810
|
0.00001
|
NM_001122955.4(BSCL2):c.1160A>G (p.Gln387Arg)
|
rs779682500
|
0.00001
|
NM_001122955.4(BSCL2):c.1264C>G (p.Leu422Val)
|
rs772442281
|
0.00001
|
NM_001122955.4(BSCL2):c.1298C>T (p.Ala433Val)
|
rs141657385
|
0.00001
|
NM_001122955.4(BSCL2):c.257G>A (p.Gly86Asp)
|
rs772832629
|
0.00001
|
NM_001122955.4(BSCL2):c.629C>T (p.Ser210Leu)
|
rs778486956
|
0.00001
|
NM_002860.4(ALDH18A1):c.1201G>A (p.Asp401Asn)
|
rs1242600175
|
0.00001
|
NM_002860.4(ALDH18A1):c.1233G>T (p.Leu411Phe)
|
rs758828421
|
0.00001
|
NM_002860.4(ALDH18A1):c.1274G>C (p.Arg425Pro)
|
rs1413173287
|
0.00001
|
NM_002860.4(ALDH18A1):c.1315G>A (p.Gly439Ser)
|
rs141292408
|
0.00001
|
NM_002860.4(ALDH18A1):c.1448G>A (p.Arg483His)
|
rs756168752
|
0.00001
|
NM_002860.4(ALDH18A1):c.1493G>T (p.Gly498Val)
|
rs569086681
|
0.00001
|
NM_002860.4(ALDH18A1):c.1589A>C (p.Lys530Thr)
|
rs560598479
|
0.00001
|
NM_002860.4(ALDH18A1):c.1598T>G (p.Val533Gly)
|
rs796197665
|
0.00001
|
NM_002860.4(ALDH18A1):c.1636T>C (p.Cys546Arg)
|
rs753157831
|
0.00001
|
NM_002860.4(ALDH18A1):c.164G>A (p.Arg55His)
|
rs754880517
|
0.00001
|
NM_002860.4(ALDH18A1):c.1732G>C (p.Gly578Arg)
|
rs1085307606
|
0.00001
|
NM_002860.4(ALDH18A1):c.1741G>A (p.Glu581Lys)
|
rs777991529
|
0.00001
|
NM_002860.4(ALDH18A1):c.1797G>C (p.Arg599Ser)
|
rs752764884
|
0.00001
|
NM_002860.4(ALDH18A1):c.1942C>T (p.Pro648Ser)
|
rs768964431
|
0.00001
|
NM_002860.4(ALDH18A1):c.2077A>G (p.Ser693Gly)
|
rs1363547996
|
0.00001
|
NM_002860.4(ALDH18A1):c.2110G>A (p.Glu704Lys)
|
rs758219423
|
0.00001
|
NM_002860.4(ALDH18A1):c.2140G>A (p.Val714Ile)
|
rs756291410
|
0.00001
|
NM_002860.4(ALDH18A1):c.2194C>T (p.Arg732Cys)
|
rs760203992
|
0.00001
|
NM_002860.4(ALDH18A1):c.2293C>T (p.Arg765Ter)
|
rs1462559161
|
0.00001
|
NM_002860.4(ALDH18A1):c.512C>T (p.Ala171Val)
|
rs1268586078
|
0.00001
|
NM_002860.4(ALDH18A1):c.558+6A>G
|
rs751771445
|
0.00001
|
NM_002860.4(ALDH18A1):c.598C>T (p.Arg200Cys)
|
rs201801058
|
0.00001
|
NM_002860.4(ALDH18A1):c.602G>A (p.Arg201Gln)
|
rs757660360
|
0.00001
|
NM_002860.4(ALDH18A1):c.781C>A (p.Leu261Ile)
|
rs200172733
|
0.00001
|
NM_002860.4(ALDH18A1):c.809-3T>G
|
rs755947818
|
0.00001
|
NM_020738.4(KIDINS220):c.1012C>T (p.Pro338Ser)
|
rs1461764281
|
0.00001
|
NM_020738.4(KIDINS220):c.2702G>A (p.Arg901Gln)
|
rs755319483
|
0.00001
|
NM_020738.4(KIDINS220):c.4889A>G (p.His1630Arg)
|
rs569904858
|
0.00001
|
NM_020738.4(KIDINS220):c.746C>T (p.Thr249Met)
|
rs771589853
|
0.00001
|
NC_000010.10:g.(?_97366519)_(97366720_?)dup
|
|
|
NC_000010.10:g.(?_97402729)_(97413134_?)dup
|
|
|
NM_001122955.4(BSCL2):c.1097C>G (p.Thr366Ser)
|
rs1424325463
|
|
NM_001122955.4(BSCL2):c.1244C>T (p.Ser415Phe)
|
rs1590868109
|
|
NM_001122955.4(BSCL2):c.1299TTCTGC[1] (p.434SA[1])
|
rs747175358
|
|
NM_001122955.4(BSCL2):c.1299TTCTGC[3] (p.434SA[3])
|
rs747175358
|
|
NM_001122955.4(BSCL2):c.1300T>G (p.Ser434Ala)
|
rs199584887
|
|
NM_001122955.4(BSCL2):c.1310C>T (p.Ala437Val)
|
rs751558047
|
|
NM_001122955.4(BSCL2):c.1385C>A (p.Ser462Tyr)
|
rs1945271930
|
|
NM_001122955.4(BSCL2):c.367A>T (p.Thr123Ser)
|
rs1349958377
|
|
NM_001122955.4(BSCL2):c.630G>A (p.Ser210=)
|
rs150158560
|
|
NM_001122955.4(BSCL2):c.806A>G (p.Lys269Arg)
|
rs781217574
|
|
NM_001122955.4(BSCL2):c.968G>T (p.Trp323Leu)
|
rs367783346
|
|
NM_002860.4(ALDH18A1):c.1001A>G (p.Lys334Arg)
|
|
|
NM_002860.4(ALDH18A1):c.100C>G (p.Pro34Ala)
|
|
|
NM_002860.4(ALDH18A1):c.1015G>A (p.Val339Ile)
|
rs1346763871
|
|
NM_002860.4(ALDH18A1):c.1032_1033delinsTC (p.Glu345Gln)
|
|
|
NM_002860.4(ALDH18A1):c.1042A>G (p.Lys348Glu)
|
|
|
NM_002860.4(ALDH18A1):c.1046T>G (p.Val349Gly)
|
|
|
NM_002860.4(ALDH18A1):c.1048G>T (p.Gly350Cys)
|
|
|
NM_002860.4(ALDH18A1):c.1073C>T (p.Pro358Leu)
|
rs868590536
|
|
NM_002860.4(ALDH18A1):c.1076C>T (p.Ala359Val)
|
rs933310637
|
|
NM_002860.4(ALDH18A1):c.1078+4A>G
|
rs1566018543
|
|
NM_002860.4(ALDH18A1):c.1078+5A>G
|
rs2139591190
|
|
NM_002860.4(ALDH18A1):c.1078+6T>C
|
rs919353563
|
|
NM_002860.4(ALDH18A1):c.1106T>C (p.Met369Thr)
|
|
|
NM_002860.4(ALDH18A1):c.1112G>C (p.Arg371Pro)
|
|
|
NM_002860.4(ALDH18A1):c.1112G>T (p.Arg371Leu)
|
|
|
NM_002860.4(ALDH18A1):c.111C>G (p.Ile37Met)
|
|
|
NM_002860.4(ALDH18A1):c.1126A>T (p.Met376Leu)
|
|
|
NM_002860.4(ALDH18A1):c.1144C>T (p.Pro382Ser)
|
|
|
NM_002860.4(ALDH18A1):c.1150C>G (p.Gln384Glu)
|
|
|
NM_002860.4(ALDH18A1):c.1151A>G (p.Gln384Arg)
|
|
|
NM_002860.4(ALDH18A1):c.1152+6A>C
|
|
|
NM_002860.4(ALDH18A1):c.1172A>T (p.His391Leu)
|
rs774081826
|
|
NM_002860.4(ALDH18A1):c.1177G>A (p.Ala393Thr)
|
|
|
NM_002860.4(ALDH18A1):c.1180G>A (p.Asp394Asn)
|
|
|
NM_002860.4(ALDH18A1):c.1199G>A (p.Arg400His)
|
rs1283928441
|
|
NM_002860.4(ALDH18A1):c.11A>G (p.Gln4Arg)
|
|
|
NM_002860.4(ALDH18A1):c.121C>G (p.Arg41Gly)
|
rs370450551
|
|
NM_002860.4(ALDH18A1):c.121C>T (p.Arg41Cys)
|
|
|
NM_002860.4(ALDH18A1):c.1236G>C (p.Glu412Asp)
|
|
|
NM_002860.4(ALDH18A1):c.1237G>C (p.Glu413Gln)
|
rs147348068
|
|
NM_002860.4(ALDH18A1):c.1253T>C (p.Leu418Pro)
|
rs201069261
|
|
NM_002860.4(ALDH18A1):c.1267C>A (p.Leu423Met)
|
|
|
NM_002860.4(ALDH18A1):c.1280G>A (p.Ser427Asn)
|
|
|
NM_002860.4(ALDH18A1):c.1292C>A (p.Ser431Tyr)
|
|
|
NM_002860.4(ALDH18A1):c.1312A>G (p.Ile438Val)
|
|
|
NM_002860.4(ALDH18A1):c.1322G>A (p.Arg441Gln)
|
|
|
NM_002860.4(ALDH18A1):c.1330G>A (p.Ala444Thr)
|
|
|
NM_002860.4(ALDH18A1):c.1357C>T (p.Arg453Cys)
|
|
|
NM_002860.4(ALDH18A1):c.135C>A (p.Asn45Lys)
|
|
|
NM_002860.4(ALDH18A1):c.1369C>T (p.Arg457Cys)
|
|
|
NM_002860.4(ALDH18A1):c.1370G>A (p.Arg457His)
|
rs570730665
|
|
NM_002860.4(ALDH18A1):c.1380C>A (p.Ile460=)
|
rs770247123
|
|
NM_002860.4(ALDH18A1):c.1385A>G (p.Lys462Arg)
|
rs886047511
|
|
NM_002860.4(ALDH18A1):c.1393G>C (p.Glu465Gln)
|
rs757876226
|
|
NM_002860.4(ALDH18A1):c.140C>T (p.Pro47Leu)
|
|
|
NM_002860.4(ALDH18A1):c.1411G>A (p.Val471Ile)
|
rs778369085
|
|
NM_002860.4(ALDH18A1):c.1411G>T (p.Val471Phe)
|
rs778369085
|
|
NM_002860.4(ALDH18A1):c.1447C>T (p.Arg483Cys)
|
|
|
NM_002860.4(ALDH18A1):c.1463C>T (p.Pro488Leu)
|
|
|
NM_002860.4(ALDH18A1):c.1474G>A (p.Ala492Thr)
|
rs2139552444
|
|
NM_002860.4(ALDH18A1):c.1474G>C (p.Ala492Pro)
|
|
|
NM_002860.4(ALDH18A1):c.1492G>A (p.Gly498Ser)
|
|
|
NM_002860.4(ALDH18A1):c.1514G>A (p.Gly505Glu)
|
|
|
NM_002860.4(ALDH18A1):c.1517G>T (p.Gly506Val)
|
|
|
NM_002860.4(ALDH18A1):c.1541G>A (p.Arg514Gln)
|
|
|
NM_002860.4(ALDH18A1):c.1549C>T (p.His517Tyr)
|
|
|
NM_002860.4(ALDH18A1):c.1551C>A (p.His517Gln)
|
rs185313265
|
|
NM_002860.4(ALDH18A1):c.155C>T (p.Pro52Leu)
|
rs140745368
|
|
NM_002860.4(ALDH18A1):c.1564_1565delinsTT (p.Glu522Leu)
|
|
|
NM_002860.4(ALDH18A1):c.1567G>C (p.Ala523Pro)
|
|
|
NM_002860.4(ALDH18A1):c.1567G>T (p.Ala523Ser)
|
|
|
NM_002860.4(ALDH18A1):c.157C>G (p.Leu53Val)
|
|
|
NM_002860.4(ALDH18A1):c.1617A>C (p.Arg539Ser)
|
|
|
NM_002860.4(ALDH18A1):c.163C>T (p.Arg55Cys)
|
|
|
NM_002860.4(ALDH18A1):c.1640G>A (p.Arg547His)
|
|
|
NM_002860.4(ALDH18A1):c.1653G>T (p.Met551Ile)
|
|
|
NM_002860.4(ALDH18A1):c.1655T>C (p.Ile552Thr)
|
|
|
NM_002860.4(ALDH18A1):c.1664T>A (p.Ile555Asn)
|
|
|
NM_002860.4(ALDH18A1):c.1672C>G (p.Arg558Gly)
|
|
|
NM_002860.4(ALDH18A1):c.1673G>A (p.Arg558His)
|
|
|
NM_002860.4(ALDH18A1):c.1685A>G (p.Gln562Arg)
|
|
|
NM_002860.4(ALDH18A1):c.1690G>A (p.Val564Ile)
|
rs2097840471
|
|
NM_002860.4(ALDH18A1):c.1691T>C (p.Val564Ala)
|
|
|
NM_002860.4(ALDH18A1):c.1703A>G (p.Gln568Arg)
|
|
|
NM_002860.4(ALDH18A1):c.1703A>T (p.Gln568Leu)
|
|
|
NM_002860.4(ALDH18A1):c.1729A>G (p.Met577Val)
|
|
|
NM_002860.4(ALDH18A1):c.1740C>G (p.Ser580Arg)
|
rs139035272
|
|
NM_002860.4(ALDH18A1):c.1777A>G (p.Ser593Gly)
|
rs1231068982
|
|
NM_002860.4(ALDH18A1):c.1778G>C (p.Ser593Thr)
|
|
|
NM_002860.4(ALDH18A1):c.1780G>A (p.Val594Ile)
|
|
|
NM_002860.4(ALDH18A1):c.1784A>T (p.Asp595Val)
|
|
|
NM_002860.4(ALDH18A1):c.1788G>T (p.Lys596Asn)
|
rs764910330
|
|
NM_002860.4(ALDH18A1):c.1798C>G (p.Leu600Val)
|
rs1755139847
|
|
NM_002860.4(ALDH18A1):c.1802-21_1802-17del
|
|
|
NM_002860.4(ALDH18A1):c.1864C>G (p.Arg622Gly)
|
|
|
NM_002860.4(ALDH18A1):c.1894C>A (p.Gln632Lys)
|
|
|
NM_002860.4(ALDH18A1):c.190C>T (p.Arg64Cys)
|
|
|
NM_002860.4(ALDH18A1):c.1915G>A (p.Val639Met)
|
|
|
NM_002860.4(ALDH18A1):c.1924G>C (p.Val642Leu)
|
|
|
NM_002860.4(ALDH18A1):c.1936G>C (p.Ala646Pro)
|
rs2097834259
|
|
NM_002860.4(ALDH18A1):c.1940G>A (p.Gly647Asp)
|
rs2139530815
|
|
NM_002860.4(ALDH18A1):c.1956C>T (p.Ser652=)
|
|
|
NM_002860.4(ALDH18A1):c.1958A>C (p.Tyr653Ser)
|
|
|
NM_002860.4(ALDH18A1):c.1985A>G (p.Lys662Arg)
|
rs1250411325
|
|
NM_002860.4(ALDH18A1):c.19C>T (p.Arg7Cys)
|
|
|
NM_002860.4(ALDH18A1):c.2024T>C (p.Ile675Thr)
|
rs989031241
|
|
NM_002860.4(ALDH18A1):c.2032G>A (p.Val678Met)
|
|
|
NM_002860.4(ALDH18A1):c.2039A>G (p.Asn680Ser)
|
rs2139530277
|
|
NM_002860.4(ALDH18A1):c.2041G>T (p.Val681Phe)
|
|
|
NM_002860.4(ALDH18A1):c.204G>C (p.Lys68Asn)
|
rs768807587
|
|
NM_002860.4(ALDH18A1):c.2051C>A (p.Ala684Asp)
|
|
|
NM_002860.4(ALDH18A1):c.2054T>C (p.Ile685Thr)
|
rs2139530175
|
|
NM_002860.4(ALDH18A1):c.2067C>G (p.His689Gln)
|
|
|
NM_002860.4(ALDH18A1):c.2078G>C (p.Ser693Thr)
|
|
|
NM_002860.4(ALDH18A1):c.2081C>T (p.Ser694Phe)
|
|
|
NM_002860.4(ALDH18A1):c.2098G>T (p.Val700Phe)
|
rs375705932
|
|
NM_002860.4(ALDH18A1):c.20G>A (p.Arg7His)
|
|
|
NM_002860.4(ALDH18A1):c.20G>C (p.Arg7Pro)
|
rs753553298
|
|
NM_002860.4(ALDH18A1):c.2114A>G (p.Asn705Ser)
|
rs1325485951
|
|
NM_002860.4(ALDH18A1):c.2135A>G (p.Gln712Arg)
|
rs2097831329
|
|
NM_002860.4(ALDH18A1):c.2149G>A (p.Ala717Thr)
|
|
|
NM_002860.4(ALDH18A1):c.2195G>A (p.Arg732His)
|
rs774916138
|
|
NM_002860.4(ALDH18A1):c.2201G>A (p.Gly734Glu)
|
|
|
NM_002860.4(ALDH18A1):c.2207-7_2207-6inv
|
|
|
NM_002860.4(ALDH18A1):c.220G>A (p.Val74Met)
|
|
|
NM_002860.4(ALDH18A1):c.220G>T (p.Val74Leu)
|
|
|
NM_002860.4(ALDH18A1):c.2225G>T (p.Ser742Ile)
|
rs765567477
|
|
NM_002860.4(ALDH18A1):c.2230T>A (p.Ser744Thr)
|
|
|
NM_002860.4(ALDH18A1):c.2231C>G (p.Ser744Trp)
|
rs762271422
|
|
NM_002860.4(ALDH18A1):c.2231C>T (p.Ser744Leu)
|
rs762271422
|
|
NM_002860.4(ALDH18A1):c.223G>T (p.Val75Leu)
|
|
|
NM_002860.4(ALDH18A1):c.2257G>A (p.Gly753Arg)
|
rs2139513759
|
|
NM_002860.4(ALDH18A1):c.2260C>T (p.Leu754Phe)
|
rs2139513721
|
|
NM_002860.4(ALDH18A1):c.2270T>G (p.Leu757Arg)
|
rs2139513699
|
|
NM_002860.4(ALDH18A1):c.2278A>G (p.Thr760Ala)
|
|
|
NM_002860.4(ALDH18A1):c.2279C>T (p.Thr760Ile)
|
|
|
NM_002860.4(ALDH18A1):c.227A>G (p.Lys76Arg)
|
|
|
NM_002860.4(ALDH18A1):c.22T>C (p.Cys8Arg)
|
rs2139670118
|
|
NM_002860.4(ALDH18A1):c.2329C>A (p.His777Asn)
|
|
|
NM_002860.4(ALDH18A1):c.2329C>T (p.His777Tyr)
|
rs553385013
|
|
NM_002860.4(ALDH18A1):c.232G>A (p.Gly78Ser)
|
|
|
NM_002860.4(ALDH18A1):c.2339T>C (p.Leu780Ser)
|
|
|
NM_002860.4(ALDH18A1):c.2345A>C (p.Tyr782Ser)
|
rs774047299
|
|
NM_002860.4(ALDH18A1):c.2353G>A (p.Glu785Lys)
|
|
|
NM_002860.4(ALDH18A1):c.251G>C (p.Arg84Pro)
|
|
|
NM_002860.4(ALDH18A1):c.255G>T (p.Gly85=)
|
|
|
NM_002860.4(ALDH18A1):c.256G>A (p.Asp86Asn)
|
|
|
NM_002860.4(ALDH18A1):c.259G>A (p.Glu87Lys)
|
|
|
NM_002860.4(ALDH18A1):c.265G>A (p.Gly89Ser)
|
rs1085307589
|
|
NM_002860.4(ALDH18A1):c.26G>T (p.Gly9Val)
|
rs2139670109
|
|
NM_002860.4(ALDH18A1):c.280C>T (p.Arg94Cys)
|
rs2139642020
|
|
NM_002860.4(ALDH18A1):c.281G>A (p.Arg94His)
|
|
|
NM_002860.4(ALDH18A1):c.293T>C (p.Ile98Thr)
|
|
|
NM_002860.4(ALDH18A1):c.295G>A (p.Val99Ile)
|
|
|
NM_002860.4(ALDH18A1):c.299A>C (p.Glu100Ala)
|
|
|
NM_002860.4(ALDH18A1):c.33G>C (p.Gln11His)
|
rs2097913334
|
|
NM_002860.4(ALDH18A1):c.34C>G (p.Pro12Ala)
|
|
|
NM_002860.4(ALDH18A1):c.371A>G (p.Lys124Arg)
|
|
|
NM_002860.4(ALDH18A1):c.382C>T (p.Arg128Cys)
|
|
|
NM_002860.4(ALDH18A1):c.407G>A (p.Ser136Asn)
|
|
|
NM_002860.4(ALDH18A1):c.40A>G (p.Asn14Asp)
|
|
|
NM_002860.4(ALDH18A1):c.41A>G (p.Asn14Ser)
|
|
|
NM_002860.4(ALDH18A1):c.428C>T (p.Ser143Leu)
|
rs1302919102
|
|
NM_002860.4(ALDH18A1):c.469G>C (p.Glu157Gln)
|
|
|
NM_002860.4(ALDH18A1):c.49C>A (p.Leu17Ile)
|
rs2139670010
|
|
NM_002860.4(ALDH18A1):c.553_554delinsTT (p.Ala185Phe)
|
|
|
NM_002860.4(ALDH18A1):c.565G>C (p.Val189Leu)
|
|
|
NM_002860.4(ALDH18A1):c.572A>C (p.Asn191Thr)
|
rs747052164
|
|
NM_002860.4(ALDH18A1):c.601C>T (p.Arg201Trp)
|
|
|
NM_002860.4(ALDH18A1):c.695A>G (p.Asn232Ser)
|
|
|
NM_002860.4(ALDH18A1):c.709G>T (p.Gly237Trp)
|
rs201841420
|
|
NM_002860.4(ALDH18A1):c.714A>G (p.Val238=)
|
|
|
NM_002860.4(ALDH18A1):c.715A>G (p.Asn239Asp)
|
rs2139609482
|
|
NM_002860.4(ALDH18A1):c.717+9A>C
|
|
|
NM_002860.4(ALDH18A1):c.718-3T>C
|
|
|
NM_002860.4(ALDH18A1):c.718G>C (p.Val240Leu)
|
rs2139608040
|
|
NM_002860.4(ALDH18A1):c.731A>G (p.Lys244Arg)
|
rs2139607977
|
|
NM_002860.4(ALDH18A1):c.732_737del (p.Lys244_Asp245del)
|
|
|
NM_002860.4(ALDH18A1):c.73A>G (p.Thr25Ala)
|
|
|
NM_002860.4(ALDH18A1):c.743G>A (p.Ser248Asn)
|
rs2097873418
|
|
NM_002860.4(ALDH18A1):c.748G>A (p.Ala250Thr)
|
|
|
NM_002860.4(ALDH18A1):c.754C>G (p.Arg252Gly)
|
|
|
NM_002860.4(ALDH18A1):c.781C>G (p.Leu261Val)
|
|
|
NM_002860.4(ALDH18A1):c.782T>C (p.Leu261Pro)
|
|
|
NM_002860.4(ALDH18A1):c.808+3A>G
|
|
|
NM_002860.4(ALDH18A1):c.809-1G>C
|
rs1202802893
|
|
NM_002860.4(ALDH18A1):c.826C>T (p.Pro276Ser)
|
rs372092118
|
|
NM_002860.4(ALDH18A1):c.836A>G (p.Asp279Gly)
|
|
|
NM_002860.4(ALDH18A1):c.839A>G (p.Asp280Gly)
|
|
|
NM_002860.4(ALDH18A1):c.856A>G (p.Ile286Val)
|
|
|
NM_002860.4(ALDH18A1):c.87T>G (p.Ser29=)
|
rs2097913253
|
|
NM_002860.4(ALDH18A1):c.887C>A (p.Thr296Lys)
|
rs768985400
|
|
NM_002860.4(ALDH18A1):c.89-1G>C
|
rs2139642879
|
|
NM_002860.4(ALDH18A1):c.89-3C>T
|
|
|
NM_002860.4(ALDH18A1):c.89-6C>G
|
rs2097895286
|
|
NM_002860.4(ALDH18A1):c.917G>T (p.Gly306Val)
|
|
|
NM_002860.4(ALDH18A1):c.928_929delinsAT (p.Ala310Ile)
|
|
|
NM_002860.4(ALDH18A1):c.933+19_933+20insAAGAATCTGGTGCCTTACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAAGATNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA
|
|
|
NM_002860.4(ALDH18A1):c.933+6A>C
|
|
|
NM_002860.4(ALDH18A1):c.946C>G (p.Leu316Val)
|
|
|
NM_002860.4(ALDH18A1):c.95T>C (p.Ile32Thr)
|
|
|
NM_002860.4(ALDH18A1):c.965G>T (p.Gly322Val)
|
|
|
NM_002860.4(ALDH18A1):c.967A>G (p.Thr323Ala)
|
|
|
NM_002860.4(ALDH18A1):c.973G>T (p.Val325Phe)
|
rs192770256
|
|
NM_002860.4(ALDH18A1):c.973GTT[1] (p.Val326del)
|
|
|
NM_020738.4(KIDINS220):c.1022A>G (p.Lys341Arg)
|
|
|
NM_020738.4(KIDINS220):c.1462G>A (p.Gly488Arg)
|
|
|
NM_020738.4(KIDINS220):c.2164C>T (p.Gln722Ter)
|
|
|
NM_020738.4(KIDINS220):c.2294A>G (p.Asn765Ser)
|
|
|
NM_020738.4(KIDINS220):c.2370+5G>A
|
|
|
NM_020738.4(KIDINS220):c.2428A>G (p.Ile810Val)
|
rs1671352434
|
|
NM_020738.4(KIDINS220):c.256A>T (p.Ile86Phe)
|
|
|
NM_020738.4(KIDINS220):c.2593G>A (p.Val865Ile)
|
|
|
NM_020738.4(KIDINS220):c.2987T>G (p.Met996Arg)
|
rs1376895839
|
|
NM_020738.4(KIDINS220):c.346C>T (p.Arg116Cys)
|
|
|
NM_020738.4(KIDINS220):c.3529-5G>T
|
|
|
NM_020738.4(KIDINS220):c.4053+1G>A
|
|
|
NM_020738.4(KIDINS220):c.4053+1G>T
|
rs1664419023
|
|
NM_020738.4(KIDINS220):c.4169A>G (p.Tyr1390Cys)
|
|
|
NM_020738.4(KIDINS220):c.4549C>T (p.Gln1517Ter)
|
rs1664085645
|
|
NM_020738.4(KIDINS220):c.4550A>G (p.Gln1517Arg)
|
|
|
NM_020738.4(KIDINS220):c.4631A>G (p.Lys1544Arg)
|
|
|
NM_020738.4(KIDINS220):c.4654G>A (p.Val1552Met)
|
|
|
NM_020738.4(KIDINS220):c.4787A>G (p.Asn1596Ser)
|
rs2147943225
|
|
NM_020738.4(KIDINS220):c.4822C>T (p.Gln1608Ter)
|
|
|
NM_020738.4(KIDINS220):c.4835C>A (p.Ala1612Glu)
|
|
|
NM_020738.4(KIDINS220):c.4850T>C (p.Leu1617Pro)
|
rs1664034594
|
|
NM_020738.4(KIDINS220):c.5032C>T (p.Arg1678Ter)
|
|
|
NM_020738.4(KIDINS220):c.5079_5080del (p.Asn1693fs)
|
rs1131692229
|
|
NM_020738.4(KIDINS220):c.517C>T (p.Pro173Ser)
|
|
|
NM_020738.4(KIDINS220):c.560A>G (p.Lys187Arg)
|
|
|
NM_020738.4(KIDINS220):c.578_579delinsTT (p.Gly193Val)
|
rs1675445207
|
|
NM_020738.4(KIDINS220):c.89A>T (p.Asp30Val)
|
|
|
NM_020738.4(KIDINS220):c.900+5G>A
|
rs772773265
|
|
NM_020738.4(KIDINS220):c.959A>G (p.Asp320Gly)
|
|
|