NM_000112.4(SLC26A2):c.782C>G (p.Ser261Cys)
|
rs114260147
|
0.00075
|
NM_004239.4(TRIP11):c.5777G>A (p.Arg1926His)
|
rs137938779
|
0.00049
|
NM_004239.4(TRIP11):c.5657T>C (p.Met1886Thr)
|
rs143392370
|
0.00029
|
NM_004239.4(TRIP11):c.1289A>G (p.Glu430Gly)
|
rs142579179
|
0.00024
|
NM_004239.4(TRIP11):c.5197G>A (p.Ala1733Thr)
|
rs142518915
|
0.00024
|
NM_004239.4(TRIP11):c.5900A>G (p.Asn1967Ser)
|
rs113605039
|
0.00024
|
NM_004239.4(TRIP11):c.950A>T (p.Asp317Val)
|
rs140416653
|
0.00023
|
NM_004239.4(TRIP11):c.3380C>T (p.Ala1127Val)
|
rs191280213
|
0.00019
|
NM_004239.4(TRIP11):c.3120A>G (p.Ile1040Met)
|
rs150434192
|
0.00017
|
NM_004239.4(TRIP11):c.2756T>C (p.Ile919Thr)
|
rs201417947
|
0.00015
|
NM_004239.4(TRIP11):c.5719+2T>C
|
rs199736345
|
0.00014
|
NM_004239.4(TRIP11):c.2494G>A (p.Asp832Asn)
|
rs374243914
|
0.00013
|
NM_004239.4(TRIP11):c.61G>A (p.Gly21Ser)
|
rs202127909
|
0.00012
|
NM_000112.4(SLC26A2):c.1744C>T (p.Arg582Cys)
|
rs142542254
|
0.00011
|
NM_004239.4(TRIP11):c.331A>G (p.Lys111Glu)
|
rs776314213
|
0.00011
|
NM_004239.4(TRIP11):c.4405G>A (p.Val1469Met)
|
rs147588757
|
0.00011
|
NM_004239.4(TRIP11):c.4967C>T (p.Ala1656Val)
|
rs143594637
|
0.00011
|
NM_000112.4(SLC26A2):c.1487G>A (p.Arg496His)
|
rs150314895
|
0.00009
|
NM_000112.4(SLC26A2):c.1633C>T (p.Arg545Cys)
|
rs200897133
|
0.00009
|
NM_000112.4(SLC26A2):c.704C>T (p.Ala235Val)
|
rs777906405
|
0.00009
|
NM_004239.4(TRIP11):c.223T>C (p.Cys75Arg)
|
rs201567600
|
0.00009
|
NM_004239.4(TRIP11):c.3215A>G (p.His1072Arg)
|
rs200721244
|
0.00009
|
NM_004239.4(TRIP11):c.3413A>G (p.Asp1138Gly)
|
rs749388466
|
0.00009
|
NM_004239.4(TRIP11):c.3743A>G (p.Gln1248Arg)
|
rs150694723
|
0.00009
|
NM_004239.4(TRIP11):c.5149A>T (p.Ile1717Leu)
|
rs146963789
|
0.00008
|
NM_004239.4(TRIP11):c.3514G>A (p.Glu1172Lys)
|
rs145498019
|
0.00007
|
NM_004239.4(TRIP11):c.4050A>C (p.Glu1350Asp)
|
rs548160101
|
0.00007
|
NM_004239.4(TRIP11):c.2303A>G (p.Asn768Ser)
|
rs140780067
|
0.00006
|
NM_004239.4(TRIP11):c.3161T>G (p.Val1054Gly)
|
rs552345466
|
0.00006
|
NM_004239.4(TRIP11):c.5307G>A (p.Met1769Ile)
|
rs199834800
|
0.00006
|
NM_004239.4(TRIP11):c.2043G>T (p.Lys681Asn)
|
rs745781387
|
0.00005
|
NM_004239.4(TRIP11):c.307A>C (p.Lys103Gln)
|
rs147048571
|
0.00005
|
NM_004239.4(TRIP11):c.484A>T (p.Met162Leu)
|
rs553843359
|
0.00005
|
NM_004239.4(TRIP11):c.674G>A (p.Arg225Gln)
|
rs746390355
|
0.00005
|
NM_004239.4(TRIP11):c.686T>C (p.Ile229Thr)
|
rs886050908
|
0.00005
|
NM_000112.4(SLC26A2):c.1192G>A (p.Val398Ile)
|
rs374310335
|
0.00004
|
NM_000112.4(SLC26A2):c.566A>G (p.His189Arg)
|
rs775447660
|
0.00004
|
NM_000112.4(SLC26A2):c.956A>G (p.Lys319Arg)
|
rs536416205
|
0.00004
|
NM_004239.4(TRIP11):c.1715A>G (p.Asn572Ser)
|
rs201139951
|
0.00004
|
NM_004239.4(TRIP11):c.2237T>C (p.Leu746Pro)
|
rs745959376
|
0.00004
|
NM_004239.4(TRIP11):c.280A>G (p.Thr94Ala)
|
rs571262882
|
0.00004
|
NM_004239.4(TRIP11):c.4019A>C (p.Glu1340Ala)
|
rs766521899
|
0.00004
|
NM_004239.4(TRIP11):c.4388G>A (p.Gly1463Glu)
|
rs769666779
|
0.00004
|
NM_004239.4(TRIP11):c.5078C>T (p.Ala1693Val)
|
rs765791979
|
0.00004
|
NM_004239.4(TRIP11):c.5192A>G (p.Asp1731Gly)
|
rs536393273
|
0.00004
|
NM_000112.4(SLC26A2):c.172C>T (p.Arg58Cys)
|
rs369318758
|
0.00003
|
NM_000112.4(SLC26A2):c.1735A>G (p.Lys579Glu)
|
rs375785597
|
0.00003
|
NM_000112.4(SLC26A2):c.2147T>C (p.Met716Thr)
|
rs760613033
|
0.00003
|
NM_000112.4(SLC26A2):c.2164T>C (p.Ser722Pro)
|
rs565149029
|
0.00003
|
NM_000112.4(SLC26A2):c.403C>A (p.Gln135Lys)
|
rs386833504
|
0.00003
|
NM_000112.4(SLC26A2):c.764G>A (p.Gly255Glu)
|
rs104893917
|
0.00003
|
NM_004239.4(TRIP11):c.3871G>A (p.Val1291Ile)
|
rs142078341
|
0.00003
|
NM_004239.4(TRIP11):c.3932T>C (p.Ile1311Thr)
|
rs376783690
|
0.00003
|
NM_004239.4(TRIP11):c.4673T>A (p.Met1558Lys)
|
rs373869385
|
0.00003
|
NM_004239.4(TRIP11):c.5200T>C (p.Ser1734Pro)
|
rs764978725
|
0.00003
|
NM_000112.4(SLC26A2):c.1355A>G (p.His452Arg)
|
rs1255485754
|
0.00002
|
NM_000112.4(SLC26A2):c.472C>T (p.Arg158Cys)
|
rs762787339
|
0.00002
|
NM_000112.4(SLC26A2):c.535G>A (p.Glu179Lys)
|
rs755031722
|
0.00002
|
NM_000112.4(SLC26A2):c.712T>G (p.Phe238Val)
|
rs746734591
|
0.00002
|
NM_004239.4(TRIP11):c.1039A>G (p.Met347Val)
|
rs758182094
|
0.00002
|
NM_004239.4(TRIP11):c.2377A>G (p.Lys793Glu)
|
rs1178042413
|
0.00002
|
NM_004239.4(TRIP11):c.3511A>G (p.Ile1171Val)
|
rs541713444
|
0.00002
|
NM_004239.4(TRIP11):c.4165G>A (p.Glu1389Lys)
|
rs770551258
|
0.00002
|
NM_004239.4(TRIP11):c.4692G>C (p.Gln1564His)
|
rs764446226
|
0.00002
|
NM_004239.4(TRIP11):c.4726C>T (p.Arg1576Cys)
|
rs763206653
|
0.00002
|
NM_004239.4(TRIP11):c.5630C>T (p.Pro1877Leu)
|
rs766363206
|
0.00002
|
NM_000112.4(SLC26A2):c.1057C>T (p.His353Tyr)
|
rs758078719
|
0.00001
|
NM_000112.4(SLC26A2):c.1085G>T (p.Gly362Val)
|
rs1215069127
|
0.00001
|
NM_000112.4(SLC26A2):c.1120C>T (p.Pro374Ser)
|
rs763082940
|
0.00001
|
NM_000112.4(SLC26A2):c.1178G>A (p.Gly393Asp)
|
rs794727476
|
0.00001
|
NM_000112.4(SLC26A2):c.134A>G (p.Asn45Ser)
|
rs773892702
|
0.00001
|
NM_000112.4(SLC26A2):c.1427A>G (p.Tyr476Cys)
|
rs145765282
|
0.00001
|
NM_000112.4(SLC26A2):c.1615A>G (p.Ile539Val)
|
rs1448915287
|
0.00001
|
NM_000112.4(SLC26A2):c.1745G>A (p.Arg582His)
|
rs368864462
|
0.00001
|
NM_000112.4(SLC26A2):c.1786A>G (p.Lys596Glu)
|
rs1387357203
|
0.00001
|
NM_000112.4(SLC26A2):c.1847C>T (p.Ala616Val)
|
rs780207230
|
0.00001
|
NM_000112.4(SLC26A2):c.2012G>A (p.Arg671His)
|
rs1038419867
|
0.00001
|
NM_000112.4(SLC26A2):c.2094A>C (p.Glu698Asp)
|
rs371461728
|
0.00001
|
NM_000112.4(SLC26A2):c.2184A>G (p.Val728=)
|
rs758010725
|
0.00001
|
NM_000112.4(SLC26A2):c.533G>A (p.Arg178Gln)
|
rs747117439
|
0.00001
|
NM_000112.4(SLC26A2):c.699+3A>C
|
rs778015831
|
0.00001
|
NM_000112.4(SLC26A2):c.767T>C (p.Phe256Ser)
|
rs1419613966
|
0.00001
|
NM_000112.4(SLC26A2):c.940G>A (p.Val314Ile)
|
rs777527899
|
0.00001
|
NM_004239.4(TRIP11):c.1255A>C (p.Lys419Gln)
|
rs768332653
|
0.00001
|
NM_004239.4(TRIP11):c.1265T>C (p.Met422Thr)
|
rs200567543
|
0.00001
|
NM_004239.4(TRIP11):c.1271T>G (p.Ile424Ser)
|
rs755311537
|
0.00001
|
NM_004239.4(TRIP11):c.1312A>G (p.Lys438Glu)
|
rs1479064739
|
0.00001
|
NM_004239.4(TRIP11):c.1547A>G (p.Asp516Gly)
|
rs1018806781
|
0.00001
|
NM_004239.4(TRIP11):c.2038G>A (p.Glu680Lys)
|
rs1400419650
|
0.00001
|
NM_004239.4(TRIP11):c.2041A>G (p.Lys681Glu)
|
rs774891720
|
0.00001
|
NM_004239.4(TRIP11):c.2075A>G (p.Gln692Arg)
|
rs369502177
|
0.00001
|
NM_004239.4(TRIP11):c.2129T>C (p.Ile710Thr)
|
rs751874296
|
0.00001
|
NM_004239.4(TRIP11):c.2276T>A (p.Leu759Gln)
|
rs146746460
|
0.00001
|
NM_004239.4(TRIP11):c.2558G>A (p.Arg853Gln)
|
rs749954388
|
0.00001
|
NM_004239.4(TRIP11):c.2603A>G (p.Glu868Gly)
|
rs1306336953
|
0.00001
|
NM_004239.4(TRIP11):c.3039A>C (p.Leu1013Phe)
|
rs1425069965
|
0.00001
|
NM_004239.4(TRIP11):c.3370G>A (p.Asp1124Asn)
|
rs1466692158
|
0.00001
|
NM_004239.4(TRIP11):c.3401T>C (p.Ile1134Thr)
|
rs562038091
|
0.00001
|
NM_004239.4(TRIP11):c.3431C>T (p.Ser1144Phe)
|
rs751017848
|
0.00001
|
NM_004239.4(TRIP11):c.3595G>A (p.Val1199Ile)
|
rs553249131
|
0.00001
|
NM_004239.4(TRIP11):c.3631C>T (p.Arg1211Cys)
|
rs760350739
|
0.00001
|
NM_004239.4(TRIP11):c.3797A>G (p.Asp1266Gly)
|
rs1407130480
|
0.00001
|
NM_004239.4(TRIP11):c.392T>A (p.Val131Glu)
|
rs778009285
|
0.00001
|
NM_004239.4(TRIP11):c.4062A>C (p.Lys1354Asn)
|
rs775138686
|
0.00001
|
NM_004239.4(TRIP11):c.4073A>G (p.Glu1358Gly)
|
rs777628142
|
0.00001
|
NM_004239.4(TRIP11):c.4182A>T (p.Glu1394Asp)
|
rs771927850
|
0.00001
|
NM_004239.4(TRIP11):c.4205A>G (p.Gln1402Arg)
|
rs1407474606
|
0.00001
|
NM_004239.4(TRIP11):c.425C>T (p.Ala142Val)
|
rs766014867
|
0.00001
|
NM_004239.4(TRIP11):c.4712G>A (p.Arg1571His)
|
rs534500568
|
0.00001
|
NM_004239.4(TRIP11):c.4805C>T (p.Ala1602Val)
|
rs1012136976
|
0.00001
|
NM_004239.4(TRIP11):c.5034G>A (p.Met1678Ile)
|
rs202047412
|
0.00001
|
NM_004239.4(TRIP11):c.5160G>A (p.Gln1720=)
|
rs779414041
|
0.00001
|
NM_004239.4(TRIP11):c.5434G>A (p.Val1812Ile)
|
rs139141533
|
0.00001
|
NM_004239.4(TRIP11):c.5470G>A (p.Asp1824Asn)
|
rs550137986
|
0.00001
|
NM_004239.4(TRIP11):c.5486C>T (p.Thr1829Ile)
|
rs1256584749
|
0.00001
|
NM_004239.4(TRIP11):c.5720-5T>G
|
rs189330326
|
0.00001
|
NM_004239.4(TRIP11):c.5729A>T (p.Glu1910Val)
|
rs370052334
|
0.00001
|
NM_004239.4(TRIP11):c.5776C>T (p.Arg1926Cys)
|
rs201962758
|
0.00001
|
NM_004239.4(TRIP11):c.716T>C (p.Leu239Pro)
|
rs1436524252
|
0.00001
|
NM_004239.4(TRIP11):c.911C>T (p.Ser304Phe)
|
rs779061616
|
0.00001
|
NC_000014.8:g.(?_90429459)_(94856914_?)dup
|
|
|
NC_000014.8:g.(?_92505871)_(92506029_?)dup
|
|
|
NM_000112.4(SLC26A2):c.1040C>T (p.Ser347Phe)
|
|
|
NM_000112.4(SLC26A2):c.1052A>G (p.Lys351Arg)
|
|
|
NM_000112.4(SLC26A2):c.1091T>C (p.Ile364Thr)
|
rs1360579129
|
|
NM_000112.4(SLC26A2):c.1112C>T (p.Pro371Leu)
|
|
|
NM_000112.4(SLC26A2):c.1114A>G (p.Lys372Glu)
|
rs1755081510
|
|
NM_000112.4(SLC26A2):c.1115A>G (p.Lys372Arg)
|
|
|
NM_000112.4(SLC26A2):c.1135A>C (p.Ile379Leu)
|
|
|
NM_000112.4(SLC26A2):c.1154A>C (p.Asp385Ala)
|
rs2113698323
|
|
NM_000112.4(SLC26A2):c.1169C>T (p.Ser390Phe)
|
|
|
NM_000112.4(SLC26A2):c.117C>G (p.Phe39Leu)
|
|
|
NM_000112.4(SLC26A2):c.1229A>G (p.Tyr410Cys)
|
rs1297067317
|
|
NM_000112.4(SLC26A2):c.1252A>G (p.Met418Val)
|
rs374309119
|
|
NM_000112.4(SLC26A2):c.1264G>A (p.Gly422Ser)
|
|
|
NM_000112.4(SLC26A2):c.1265G>C (p.Gly422Ala)
|
|
|
NM_000112.4(SLC26A2):c.1312G>T (p.Ala438Ser)
|
|
|
NM_000112.4(SLC26A2):c.1381G>T (p.Ala461Ser)
|
|
|
NM_000112.4(SLC26A2):c.1405C>G (p.Leu469Val)
|
|
|
NM_000112.4(SLC26A2):c.1423T>C (p.Phe475Leu)
|
|
|
NM_000112.4(SLC26A2):c.1439A>G (p.Lys480Arg)
|
|
|
NM_000112.4(SLC26A2):c.1447C>T (p.Leu483Phe)
|
|
|
NM_000112.4(SLC26A2):c.1463T>C (p.Ile488Thr)
|
rs2113698778
|
|
NM_000112.4(SLC26A2):c.1481C>T (p.Ala494Val)
|
|
|
NM_000112.4(SLC26A2):c.1486C>T (p.Arg496Cys)
|
|
|
NM_000112.4(SLC26A2):c.149C>T (p.Pro50Leu)
|
rs1755018969
|
|
NM_000112.4(SLC26A2):c.1541T>C (p.Ile514Thr)
|
|
|
NM_000112.4(SLC26A2):c.1549G>C (p.Val517Leu)
|
|
|
NM_000112.4(SLC26A2):c.1564T>C (p.Ser522Pro)
|
|
|
NM_000112.4(SLC26A2):c.1616T>A (p.Ile539Lys)
|
|
|
NM_000112.4(SLC26A2):c.1634G>A (p.Arg545His)
|
rs745802790
|
|
NM_000112.4(SLC26A2):c.1655C>T (p.Ser552Leu)
|
rs1755094376
|
|
NM_000112.4(SLC26A2):c.1666T>A (p.Leu556Met)
|
rs1755094647
|
|
NM_000112.4(SLC26A2):c.1670T>C (p.Val557Ala)
|
|
|
NM_000112.4(SLC26A2):c.1685T>C (p.Val562Ala)
|
|
|
NM_000112.4(SLC26A2):c.1724A>G (p.Lys575Arg)
|
|
|
NM_000112.4(SLC26A2):c.1739T>C (p.Ile580Thr)
|
|
|
NM_000112.4(SLC26A2):c.1759C>T (p.Leu587Phe)
|
rs2113699190
|
|
NM_000112.4(SLC26A2):c.1816C>A (p.Pro606Thr)
|
rs767618201
|
|
NM_000112.4(SLC26A2):c.1819A>G (p.Ile607Val)
|
|
|
NM_000112.4(SLC26A2):c.1840AAG[1] (p.Lys615del)
|
|
|
NM_000112.4(SLC26A2):c.1898A>T (p.Asp633Val)
|
|
|
NM_000112.4(SLC26A2):c.1939C>T (p.His647Tyr)
|
|
|
NM_000112.4(SLC26A2):c.1992C>G (p.Ile664Met)
|
|
|
NM_000112.4(SLC26A2):c.199A>C (p.Lys67Gln)
|
|
|
NM_000112.4(SLC26A2):c.2006A>T (p.Glu669Val)
|
rs574817339
|
|
NM_000112.4(SLC26A2):c.2011C>T (p.Arg671Cys)
|
|
|
NM_000112.4(SLC26A2):c.2018A>T (p.Asp673Val)
|
|
|
NM_000112.4(SLC26A2):c.2021A>G (p.Tyr674Cys)
|
rs772655429
|
|
NM_000112.4(SLC26A2):c.2032_2033delinsCT (p.Gly678Leu)
|
rs2113699627
|
|
NM_000112.4(SLC26A2):c.2037C>G (p.Ile679Met)
|
|
|
NM_000112.4(SLC26A2):c.2042T>A (p.Val681Asp)
|
rs1755104737
|
|
NM_000112.4(SLC26A2):c.2044C>G (p.Leu682Val)
|
rs751425859
|
|
NM_000112.4(SLC26A2):c.205T>C (p.Phe69Leu)
|
|
|
NM_000112.4(SLC26A2):c.2060A>G (p.Asn687Ser)
|
|
|
NM_000112.4(SLC26A2):c.2065A>G (p.Thr689Ala)
|
|
|
NM_000112.4(SLC26A2):c.2068G>A (p.Val690Met)
|
rs746291695
|
|
NM_000112.4(SLC26A2):c.2146A>G (p.Met716Val)
|
|
|
NM_000112.4(SLC26A2):c.2217_*4del (p.Asp739fs)
|
|
|
NM_000112.4(SLC26A2):c.225GAA[1] (p.Lys76del)
|
rs1204857377
|
|
NM_000112.4(SLC26A2):c.25C>G (p.His9Asp)
|
|
|
NM_000112.4(SLC26A2):c.264G>A (p.Met88Ile)
|
|
|
NM_000112.4(SLC26A2):c.370C>A (p.Pro124Thr)
|
|
|
NM_000112.4(SLC26A2):c.381T>G (p.Ile127Met)
|
|
|
NM_000112.4(SLC26A2):c.431C>A (p.Ser144Tyr)
|
|
|
NM_000112.4(SLC26A2):c.469T>A (p.Ser157Thr)
|
|
|
NM_000112.4(SLC26A2):c.473G>T (p.Arg158Leu)
|
rs143658243
|
|
NM_000112.4(SLC26A2):c.560A>G (p.Asn187Ser)
|
|
|
NM_000112.4(SLC26A2):c.568A>G (p.Ser190Gly)
|
|
|
NM_000112.4(SLC26A2):c.596A>G (p.Asn199Ser)
|
rs2113696251
|
|
NM_000112.4(SLC26A2):c.610T>G (p.Leu204Val)
|
|
|
NM_000112.4(SLC26A2):c.617A>G (p.His206Arg)
|
|
|
NM_000112.4(SLC26A2):c.627C>A (p.Asp209Glu)
|
|
|
NM_000112.4(SLC26A2):c.630G>C (p.Arg210Ser)
|
|
|
NM_000112.4(SLC26A2):c.635G>T (p.Cys212Phe)
|
|
|
NM_000112.4(SLC26A2):c.650A>G (p.Tyr217Cys)
|
|
|
NM_000112.4(SLC26A2):c.695A>G (p.Tyr232Cys)
|
|
|
NM_000112.4(SLC26A2):c.706A>G (p.Met236Val)
|
|
|
NM_000112.4(SLC26A2):c.718C>G (p.Gln240Glu)
|
rs1755069507
|
|
NM_000112.4(SLC26A2):c.719A>T (p.Gln240Leu)
|
|
|
NM_000112.4(SLC26A2):c.725G>T (p.Gly242Val)
|
|
|
NM_000112.4(SLC26A2):c.74C>G (p.Ser25Cys)
|
|
|
NM_000112.4(SLC26A2):c.775G>A (p.Gly259Ser)
|
rs2113697704
|
|
NM_000112.4(SLC26A2):c.779C>T (p.Ala260Val)
|
|
|
NM_000112.4(SLC26A2):c.833C>T (p.Pro278Leu)
|
rs1755072978
|
|
NM_000112.4(SLC26A2):c.836G>C (p.Arg279Pro)
|
rs114569184
|
|
NM_000112.4(SLC26A2):c.842_865del (p.Asn281_Thr288del)
|
rs2113697812
|
|
NM_000112.4(SLC26A2):c.844G>C (p.Gly282Arg)
|
rs571410872
|
|
NM_000112.4(SLC26A2):c.854C>T (p.Ser285Leu)
|
rs140041300
|
|
NM_000112.4(SLC26A2):c.866C>A (p.Thr289Asn)
|
rs1225377370
|
|
NM_000112.4(SLC26A2):c.892C>A (p.His298Asn)
|
rs1025069199
|
|
NM_000112.4(SLC26A2):c.902A>G (p.Asn301Ser)
|
rs750646790
|
|
NM_000112.4(SLC26A2):c.925C>T (p.Leu309Phe)
|
|
|
NM_000112.4(SLC26A2):c.953C>T (p.Thr318Ile)
|
|
|
NM_000112.4(SLC26A2):c.95A>T (p.Gln32Leu)
|
|
|
NM_000112.4(SLC26A2):c.965A>G (p.Asn322Ser)
|
rs2113698024
|
|
NM_000112.4(SLC26A2):c.980C>T (p.Ser327Phe)
|
|
|
NM_000112.4(SLC26A2):c.990_992del (p.Ala331del)
|
|
|
NM_004239.4(TRIP11):c.1066G>A (p.Glu356Lys)
|
rs2140129618
|
|
NM_004239.4(TRIP11):c.1153G>A (p.Glu385Lys)
|
rs2057008669
|
|
NM_004239.4(TRIP11):c.1159G>A (p.Val387Met)
|
rs376669587
|
|
NM_004239.4(TRIP11):c.1186+5A>G
|
|
|
NM_004239.4(TRIP11):c.1192G>A (p.Glu398Lys)
|
|
|
NM_004239.4(TRIP11):c.1268G>A (p.Arg423His)
|
|
|
NM_004239.4(TRIP11):c.1295C>T (p.Ser432Leu)
|
|
|
NM_004239.4(TRIP11):c.1409A>G (p.His470Arg)
|
rs769103968
|
|
NM_004239.4(TRIP11):c.1457G>C (p.Ser486Thr)
|
rs1472131979
|
|
NM_004239.4(TRIP11):c.1493A>T (p.Glu498Val)
|
rs1380783440
|
|
NM_004239.4(TRIP11):c.1527+4A>G
|
rs2140121640
|
|
NM_004239.4(TRIP11):c.1580G>A (p.Ser527Asn)
|
|
|
NM_004239.4(TRIP11):c.1580G>C (p.Ser527Thr)
|
|
|
NM_004239.4(TRIP11):c.1620A>C (p.Lys540Asn)
|
|
|
NM_004239.4(TRIP11):c.1652T>G (p.Met551Arg)
|
|
|
NM_004239.4(TRIP11):c.1655A>C (p.Asp552Ala)
|
|
|
NM_004239.4(TRIP11):c.1671A>C (p.Leu557Phe)
|
|
|
NM_004239.4(TRIP11):c.178A>G (p.Ile60Val)
|
|
|
NM_004239.4(TRIP11):c.1814A>G (p.Glu605Gly)
|
|
|
NM_004239.4(TRIP11):c.1820T>C (p.Leu607Ser)
|
rs927576762
|
|
NM_004239.4(TRIP11):c.1828A>C (p.Lys610Gln)
|
|
|
NM_004239.4(TRIP11):c.1828_1830del (p.Lys610del)
|
rs2140119756
|
|
NM_004239.4(TRIP11):c.185C>A (p.Ala62Glu)
|
|
|
NM_004239.4(TRIP11):c.1934_1939del (p.Lys645_Glu646del)
|
rs749191728
|
|
NM_004239.4(TRIP11):c.1937A>G (p.Glu646Gly)
|
rs369583157
|
|
NM_004239.4(TRIP11):c.1993A>G (p.Asn665Asp)
|
|
|
NM_004239.4(TRIP11):c.2004A>T (p.Leu668Phe)
|
rs762335316
|
|
NM_004239.4(TRIP11):c.2015C>T (p.Ala672Val)
|
rs1177784939
|
|
NM_004239.4(TRIP11):c.2023G>A (p.Val675Ile)
|
|
|
NM_004239.4(TRIP11):c.2098A>G (p.Asn700Asp)
|
rs2056895078
|
|
NM_004239.4(TRIP11):c.210G>T (p.Arg70Ser)
|
|
|
NM_004239.4(TRIP11):c.2125A>G (p.Thr709Ala)
|
|
|
NM_004239.4(TRIP11):c.2138C>A (p.Thr713Asn)
|
rs188524590
|
|
NM_004239.4(TRIP11):c.2147T>C (p.Met716Thr)
|
|
|
NM_004239.4(TRIP11):c.2189A>G (p.Lys730Arg)
|
rs2056893267
|
|
NM_004239.4(TRIP11):c.218A>G (p.Lys73Arg)
|
|
|
NM_004239.4(TRIP11):c.2200G>A (p.Glu734Lys)
|
rs2140119189
|
|
NM_004239.4(TRIP11):c.2212A>C (p.Lys738Gln)
|
|
|
NM_004239.4(TRIP11):c.2257A>C (p.Asn753His)
|
|
|
NM_004239.4(TRIP11):c.2257A>G (p.Asn753Asp)
|
|
|
NM_004239.4(TRIP11):c.2314G>A (p.Asp772Asn)
|
rs775798114
|
|
NM_004239.4(TRIP11):c.2406G>T (p.Glu802Asp)
|
rs2140118820
|
|
NM_004239.4(TRIP11):c.2433C>A (p.Asn811Lys)
|
rs2140118782
|
|
NM_004239.4(TRIP11):c.2444_2455del (p.Ile815_Glu818del)
|
|
|
NM_004239.4(TRIP11):c.2455A>G (p.Lys819Glu)
|
|
|
NM_004239.4(TRIP11):c.2542A>G (p.Ile848Val)
|
|
|
NM_004239.4(TRIP11):c.2609A>T (p.Glu870Val)
|
rs375135703
|
|
NM_004239.4(TRIP11):c.262C>G (p.Gln88Glu)
|
|
|
NM_004239.4(TRIP11):c.2638G>A (p.Ala880Thr)
|
|
|
NM_004239.4(TRIP11):c.2665G>C (p.Asp889His)
|
|
|
NM_004239.4(TRIP11):c.2741A>C (p.His914Pro)
|
rs147530260
|
|
NM_004239.4(TRIP11):c.2758G>A (p.Glu920Lys)
|
|
|
NM_004239.4(TRIP11):c.2821G>A (p.Asp941Asn)
|
|
|
NM_004239.4(TRIP11):c.2884G>T (p.Asp962Tyr)
|
rs2140118037
|
|
NM_004239.4(TRIP11):c.2909A>G (p.Lys970Arg)
|
rs2140118009
|
|
NM_004239.4(TRIP11):c.2971T>G (p.Ser991Ala)
|
|
|
NM_004239.4(TRIP11):c.3014A>T (p.Glu1005Val)
|
|
|
NM_004239.4(TRIP11):c.312+6T>C
|
|
|
NM_004239.4(TRIP11):c.3133C>A (p.Gln1045Lys)
|
rs2140117610
|
|
NM_004239.4(TRIP11):c.3167A>C (p.Lys1056Thr)
|
|
|
NM_004239.4(TRIP11):c.3233C>T (p.Thr1078Ile)
|
rs2056875659
|
|
NM_004239.4(TRIP11):c.3281A>C (p.Tyr1094Ser)
|
rs1378528757
|
|
NM_004239.4(TRIP11):c.3467G>C (p.Arg1156Thr)
|
rs2140117119
|
|
NM_004239.4(TRIP11):c.3475A>G (p.Ile1159Val)
|
|
|
NM_004239.4(TRIP11):c.349C>T (p.Leu117Phe)
|
|
|
NM_004239.4(TRIP11):c.3619C>T (p.Leu1207Phe)
|
rs1595387309
|
|
NM_004239.4(TRIP11):c.3622C>A (p.Leu1208Ile)
|
|
|
NM_004239.4(TRIP11):c.3629A>T (p.Glu1210Val)
|
|
|
NM_004239.4(TRIP11):c.3728A>G (p.Gln1243Arg)
|
|
|
NM_004239.4(TRIP11):c.3773A>T (p.Asp1258Val)
|
|
|
NM_004239.4(TRIP11):c.379G>C (p.Ala127Pro)
|
|
|
NM_004239.4(TRIP11):c.3821A>G (p.Tyr1274Cys)
|
rs2056866244
|
|
NM_004239.4(TRIP11):c.3821A>T (p.Tyr1274Phe)
|
rs2056866244
|
|
NM_004239.4(TRIP11):c.3823G>A (p.Glu1275Lys)
|
|
|
NM_004239.4(TRIP11):c.3880A>G (p.Ser1294Gly)
|
rs781290694
|
|
NM_004239.4(TRIP11):c.3910C>A (p.Leu1304Ile)
|
rs2140116435
|
|
NM_004239.4(TRIP11):c.3953C>G (p.Ser1318Cys)
|
|
|
NM_004239.4(TRIP11):c.4006G>C (p.Glu1336Gln)
|
|
|
NM_004239.4(TRIP11):c.4018G>A (p.Glu1340Lys)
|
|
|
NM_004239.4(TRIP11):c.4040A>G (p.Gln1347Arg)
|
|
|
NM_004239.4(TRIP11):c.4130T>C (p.Ile1377Thr)
|
rs1595386646
|
|
NM_004239.4(TRIP11):c.4159_4161del (p.Glu1387del)
|
rs1216670947
|
|
NM_004239.4(TRIP11):c.41A>C (p.Gln14Pro)
|
|
|
NM_004239.4(TRIP11):c.4280A>G (p.Asn1427Ser)
|
|
|
NM_004239.4(TRIP11):c.4330G>A (p.Val1444Ile)
|
rs779575181
|
|
NM_004239.4(TRIP11):c.4330G>C (p.Val1444Leu)
|
rs779575181
|
|
NM_004239.4(TRIP11):c.4390G>A (p.Glu1464Lys)
|
rs2056856064
|
|
NM_004239.4(TRIP11):c.4392A>T (p.Glu1464Asp)
|
|
|
NM_004239.4(TRIP11):c.4418G>A (p.Arg1473Lys)
|
|
|
NM_004239.4(TRIP11):c.4434A>T (p.Glu1478Asp)
|
|
|
NM_004239.4(TRIP11):c.4447C>A (p.Gln1483Lys)
|
rs767207472
|
|
NM_004239.4(TRIP11):c.4481G>C (p.Arg1494Pro)
|
rs775469397
|
|
NM_004239.4(TRIP11):c.4519G>C (p.Ala1507Pro)
|
|
|
NM_004239.4(TRIP11):c.4567G>A (p.Gly1523Arg)
|
|
|
NM_004239.4(TRIP11):c.4604T>C (p.Met1535Thr)
|
|
|
NM_004239.4(TRIP11):c.4607A>G (p.Gln1536Arg)
|
|
|
NM_004239.4(TRIP11):c.4754G>A (p.Arg1585His)
|
|
|
NM_004239.4(TRIP11):c.4790G>A (p.Arg1597His)
|
|
|
NM_004239.4(TRIP11):c.4817A>G (p.Glu1606Gly)
|
|
|
NM_004239.4(TRIP11):c.4822A>G (p.Lys1608Glu)
|
|
|
NM_004239.4(TRIP11):c.4828A>G (p.Arg1610Gly)
|
rs1566855488
|
|
NM_004239.4(TRIP11):c.4922T>C (p.Leu1641Ser)
|
|
|
NM_004239.4(TRIP11):c.4934T>C (p.Leu1645Ser)
|
|
|
NM_004239.4(TRIP11):c.5003A>G (p.Gln1668Arg)
|
|
|
NM_004239.4(TRIP11):c.5068A>G (p.Met1690Val)
|
rs542557164
|
|
NM_004239.4(TRIP11):c.5161-3C>G
|
rs2140097525
|
|
NM_004239.4(TRIP11):c.5174A>G (p.Glu1725Gly)
|
rs2140097477
|
|
NM_004239.4(TRIP11):c.5234A>G (p.Glu1745Gly)
|
|
|
NM_004239.4(TRIP11):c.5285A>C (p.Asp1762Ala)
|
|
|
NM_004239.4(TRIP11):c.533C>T (p.Ser178Leu)
|
|
|
NM_004239.4(TRIP11):c.5359C>T (p.Leu1787Phe)
|
rs2056450408
|
|
NM_004239.4(TRIP11):c.5409A>T (p.Leu1803Phe)
|
|
|
NM_004239.4(TRIP11):c.5411G>A (p.Arg1804Gln)
|
|
|
NM_004239.4(TRIP11):c.5479G>T (p.Gly1827Cys)
|
rs1051340
|
|
NM_004239.4(TRIP11):c.5530C>G (p.Pro1844Ala)
|
|
|
NM_004239.4(TRIP11):c.5555A>G (p.Gln1852Arg)
|
|
|
NM_004239.4(TRIP11):c.5663C>T (p.Pro1888Leu)
|
|
|
NM_004239.4(TRIP11):c.5744GAA[3] (p.Arg1916_Thr1917insArg)
|
|
|
NM_004239.4(TRIP11):c.5762C>T (p.Pro1921Leu)
|
|
|
NM_004239.4(TRIP11):c.586C>G (p.Gln196Glu)
|
rs149079426
|
|
NM_004239.4(TRIP11):c.5885C>T (p.Pro1962Leu)
|
|
|
NM_004239.4(TRIP11):c.5888C>T (p.Ala1963Val)
|
|
|
NM_004239.4(TRIP11):c.604G>A (p.Gly202Arg)
|
|
|
NM_004239.4(TRIP11):c.633A>G (p.Ile211Met)
|
rs2140133290
|
|
NM_004239.4(TRIP11):c.658-18_658-17insGGATTACAGGCGTGAGCCACCGCGCCCGGCC
|
|
|
NM_004239.4(TRIP11):c.688G>A (p.Asp230Asn)
|
|
|
NM_004239.4(TRIP11):c.863A>G (p.Tyr288Cys)
|
|
|
NM_004239.4(TRIP11):c.953T>C (p.Ile318Thr)
|
|
|
NM_004239.4(TRIP11):c.961A>G (p.Lys321Glu)
|
|
|
NM_004239.4(TRIP11):c.981T>A (p.Asn327Lys)
|
|
|