NM_000112.4(SLC26A2):c.1721T>C (p.Ile574Thr)
|
rs30832
|
0.99306
|
NM_004239.4(TRIP11):c.5479G>A (p.Gly1827Ser)
|
rs1051340
|
0.29281
|
NM_000112.4(SLC26A2):c.2065A>T (p.Thr689Ser)
|
rs3776070
|
0.19906
|
NM_004239.4(TRIP11):c.115A>T (p.Met39Leu)
|
rs17127898
|
0.06056
|
NM_004239.4(TRIP11):c.5255G>A (p.Arg1752Lys)
|
rs11851376
|
0.03105
|
NM_004239.4(TRIP11):c.4812T>C (p.Asp1604=)
|
rs17127837
|
0.02457
|
NM_000112.4(SLC26A2):c.1474C>T (p.Arg492Trp)
|
rs78676079
|
0.01642
|
NM_004239.4(TRIP11):c.405T>C (p.Ala135=)
|
rs77981249
|
0.01569
|
NM_004239.4(TRIP11):c.5781G>A (p.Ser1927=)
|
rs3742719
|
0.01567
|
NM_004239.4(TRIP11):c.4727G>A (p.Arg1576His)
|
rs35007347
|
0.01467
|
NM_004239.4(TRIP11):c.2651A>G (p.Asp884Gly)
|
rs34967261
|
0.01405
|
NM_004239.4(TRIP11):c.3306T>C (p.Phe1102=)
|
rs34151071
|
0.01402
|
NM_004239.4(TRIP11):c.1527+6A>G
|
rs17127844
|
0.01376
|
NM_004239.4(TRIP11):c.2931C>T (p.Thr977=)
|
rs7152887
|
0.01366
|
NM_000112.4(SLC26A2):c.2220A>G (p.Ter740=)
|
rs61732052
|
0.01353
|
NM_004239.4(TRIP11):c.2383G>C (p.Val795Leu)
|
rs34699762
|
0.01322
|
NM_004239.4(TRIP11):c.202-7T>A
|
rs56034853
|
0.01303
|
NM_004239.4(TRIP11):c.3118A>G (p.Ile1040Val)
|
rs34805848
|
0.01111
|
NM_004239.4(TRIP11):c.3714G>A (p.Glu1238=)
|
rs34919898
|
0.01101
|
NM_004239.4(TRIP11):c.5651A>G (p.His1884Arg)
|
rs74071672
|
0.00895
|
NM_004239.4(TRIP11):c.2134G>A (p.Glu712Lys)
|
rs143524436
|
0.00835
|
NM_004239.4(TRIP11):c.1517A>C (p.Glu506Ala)
|
rs2273186
|
0.00816
|
NM_000112.4(SLC26A2):c.655A>G (p.Ile219Val)
|
rs35919114
|
0.00795
|
NM_004239.4(TRIP11):c.3147G>A (p.Leu1049=)
|
rs17127842
|
0.00729
|
NM_004239.4(TRIP11):c.4164C>T (p.His1388=)
|
rs140130380
|
0.00687
|
NM_004239.4(TRIP11):c.4507A>G (p.Met1503Val)
|
rs34839498
|
0.00686
|
NM_004239.4(TRIP11):c.2217T>C (p.Tyr739=)
|
rs35009380
|
0.00682
|
NM_004239.4(TRIP11):c.3858G>A (p.Gln1286=)
|
rs35798420
|
0.00558
|
NM_004239.4(TRIP11):c.1904C>G (p.Ser635Cys)
|
rs59635749
|
0.00410
|
NM_004239.4(TRIP11):c.5086G>A (p.Glu1696Lys)
|
rs80200454
|
0.00410
|
NM_000112.4(SLC26A2):c.987T>C (p.Leu329=)
|
rs116302615
|
0.00246
|
NM_004239.4(TRIP11):c.3604A>C (p.Asn1202His)
|
rs41301481
|
0.00236
|
NM_004239.4(TRIP11):c.5137G>C (p.Glu1713Gln)
|
rs137974620
|
0.00232
|
NM_004239.4(TRIP11):c.2102A>G (p.Asn701Ser)
|
rs139539448
|
0.00217
|
NM_000112.4(SLC26A2):c.2087A>G (p.Asn696Ser)
|
rs34351171
|
0.00214
|
NM_004239.4(TRIP11):c.5629C>A (p.Pro1877Thr)
|
rs148261539
|
0.00204
|
NM_004239.4(TRIP11):c.4413A>C (p.Thr1471=)
|
rs144780536
|
0.00202
|
NM_004239.4(TRIP11):c.5246A>C (p.Glu1749Ala)
|
rs2273183
|
0.00188
|
NM_004239.4(TRIP11):c.5056+11C>T
|
rs199549473
|
0.00170
|
NM_004239.4(TRIP11):c.5125G>A (p.Ala1709Thr)
|
rs141965887
|
0.00167
|
NM_004239.4(TRIP11):c.5298G>T (p.Lys1766Asn)
|
rs145868557
|
0.00148
|
NM_004239.4(TRIP11):c.217A>G (p.Lys73Glu)
|
rs114300046
|
0.00145
|
NM_004239.4(TRIP11):c.382G>T (p.Ala128Ser)
|
rs141553918
|
0.00133
|
NM_000112.4(SLC26A2):c.468C>T (p.Thr156=)
|
rs111788154
|
0.00110
|
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp)
|
rs104893915
|
0.00106
|
NM_004239.4(TRIP11):c.1280T>C (p.Leu427Ser)
|
rs34761938
|
0.00103
|
NM_004239.4(TRIP11):c.5010T>C (p.Ala1670=)
|
rs149334552
|
0.00103
|
NM_004239.4(TRIP11):c.4069C>A (p.Gln1357Lys)
|
rs144829001
|
0.00101
|
NM_004239.4(TRIP11):c.4063T>A (p.Ser1355Thr)
|
rs138661581
|
0.00095
|
NM_004239.4(TRIP11):c.1589G>A (p.Ser530Asn)
|
rs138304419
|
0.00093
|
NM_000112.4(SLC26A2):c.782C>G (p.Ser261Cys)
|
rs114260147
|
0.00075
|
NM_000112.4(SLC26A2):c.1046T>A (p.Phe349Tyr)
|
rs114212275
|
0.00073
|
NM_004239.4(TRIP11):c.5057-9T>G
|
rs372161255
|
0.00070
|
NM_000112.4(SLC26A2):c.836G>A (p.Arg279Gln)
|
rs114569184
|
0.00069
|
NM_004239.4(TRIP11):c.1952T>C (p.Val651Ala)
|
rs35991093
|
0.00068
|
NM_004239.4(TRIP11):c.42G>A (p.Gln14=)
|
rs61740833
|
0.00065
|
NM_004239.4(TRIP11):c.4173C>T (p.Thr1391=)
|
rs140070005
|
0.00058
|
NM_004239.4(TRIP11):c.5887G>A (p.Ala1963Thr)
|
rs61742059
|
0.00058
|
NM_000112.4(SLC26A2):c.-26+2T>C
|
rs386833492
|
0.00055
|
NM_004239.4(TRIP11):c.9C>T (p.Ser3=)
|
rs148398142
|
0.00055
|
NM_004239.4(TRIP11):c.214A>G (p.Lys72Glu)
|
rs548721041
|
0.00054
|
NM_004239.4(TRIP11):c.5537C>T (p.Thr1846Ile)
|
rs141259390
|
0.00050
|
NM_004239.4(TRIP11):c.4620T>C (p.Val1540=)
|
rs72705400
|
0.00049
|
NM_004239.4(TRIP11):c.5777G>A (p.Arg1926His)
|
rs137938779
|
0.00049
|
NM_004239.4(TRIP11):c.3264A>G (p.Gln1088=)
|
rs138702943
|
0.00047
|
NM_000112.4(SLC26A2):c.893A>G (p.His298Arg)
|
rs115111282
|
0.00044
|
NM_000112.4(SLC26A2):c.1234G>A (p.Val412Ile)
|
rs201714602
|
0.00043
|
NM_004239.4(TRIP11):c.4139C>T (p.Thr1380Ile)
|
rs117748213
|
0.00042
|
NM_004239.4(TRIP11):c.5085C>T (p.Leu1695=)
|
rs138379032
|
0.00035
|
NM_000112.4(SLC26A2):c.695A>T (p.Tyr232Phe)
|
rs75097996
|
0.00032
|
NM_004239.4(TRIP11):c.5124C>T (p.Asn1708=)
|
rs143872244
|
0.00031
|
NM_004239.4(TRIP11):c.5657T>C (p.Met1886Thr)
|
rs143392370
|
0.00029
|
NM_004239.4(TRIP11):c.202-11T>G
|
rs561503305
|
0.00027
|
NM_000112.4(SLC26A2):c.1081G>A (p.Ala361Thr)
|
rs139051143
|
0.00026
|
NM_000112.4(SLC26A2):c.1295A>G (p.His432Arg)
|
rs116443969
|
0.00026
|
NM_004239.4(TRIP11):c.107A>T (p.Asp36Val)
|
rs186074112
|
0.00026
|
NM_004239.4(TRIP11):c.1774C>T (p.Leu592=)
|
rs199768095
|
0.00026
|
NM_004239.4(TRIP11):c.2667T>C (p.Asp889=)
|
rs140106241
|
0.00026
|
NM_000112.4(SLC26A2):c.229A>C (p.Asn77His)
|
rs76784312
|
0.00025
|
NM_004239.4(TRIP11):c.754C>A (p.Arg252=)
|
rs186197454
|
0.00025
|
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.5889G>A (p.Ala1963=)
|
rs142075650
|
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_000112.4(SLC26A2):c.1512G>A (p.Met504Ile)
|
rs76668544
|
0.00022
|
NM_000112.4(SLC26A2):c.2046G>A (p.Leu682=)
|
rs116657359
|
0.00022
|
NM_000112.4(SLC26A2):c.699+20T>C
|
rs368382498
|
0.00022
|
NM_004239.4(TRIP11):c.3100C>T (p.Leu1034Phe)
|
rs200739251
|
0.00019
|
NM_004239.4(TRIP11):c.3380C>T (p.Ala1127Val)
|
rs191280213
|
0.00019
|
NM_004239.4(TRIP11):c.4149A>G (p.Leu1383=)
|
rs369890403
|
0.00019
|
NM_000112.4(SLC26A2):c.1410A>G (p.Val470=)
|
rs115777661
|
0.00017
|
NM_004239.4(TRIP11):c.1568A>G (p.Asn523Ser)
|
rs149639792
|
0.00017
|
NM_004239.4(TRIP11):c.3120A>G (p.Ile1040Met)
|
rs150434192
|
0.00017
|
NM_004239.4(TRIP11):c.2382C>T (p.Asp794=)
|
rs372227102
|
0.00016
|
NM_004239.4(TRIP11):c.5239A>G (p.Ile1747Val)
|
rs137914270
|
0.00016
|
NM_004239.4(TRIP11):c.2756T>C (p.Ile919Thr)
|
rs201417947
|
0.00015
|
NM_004239.4(TRIP11):c.576G>C (p.Arg192Ser)
|
rs577597668
|
0.00015
|
NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser)
|
rs104893924
|
0.00014
|
NM_000112.4(SLC26A2):c.474T>C (p.Arg158=)
|
rs374572095
|
0.00014
|
NM_000112.4(SLC26A2):c.807C>T (p.Ala269=)
|
rs148445106
|
0.00014
|
NM_004239.4(TRIP11):c.4608G>A (p.Gln1536=)
|
rs150069453
|
0.00014
|
NM_004239.4(TRIP11):c.5719+2T>C
|
rs199736345
|
0.00014
|
NM_000112.4(SLC26A2):c.1776A>G (p.Lys592=)
|
rs570536938
|
0.00013
|
NM_004239.4(TRIP11):c.2357A>C (p.Asp786Ala)
|
rs201394520
|
0.00013
|
NM_004239.4(TRIP11):c.2494G>A (p.Asp832Asn)
|
rs374243914
|
0.00013
|
NM_000112.4(SLC26A2):c.532C>T (p.Arg178Ter)
|
rs104893919
|
0.00012
|
NM_004239.4(TRIP11):c.183T>C (p.His61=)
|
rs138904373
|
0.00012
|
NM_004239.4(TRIP11):c.321C>T (p.Ile107=)
|
rs372045593
|
0.00012
|
NM_004239.4(TRIP11):c.4500C>T (p.Cys1500=)
|
rs140939244
|
0.00012
|
NM_004239.4(TRIP11):c.61G>A (p.Gly21Ser)
|
rs202127909
|
0.00012
|
NM_000112.4(SLC26A2):c.173G>A (p.Arg58His)
|
rs199893058
|
0.00011
|
NM_000112.4(SLC26A2):c.1744C>T (p.Arg582Cys)
|
rs142542254
|
0.00011
|
NM_000112.4(SLC26A2):c.1854G>A (p.Lys618=)
|
rs370460064
|
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_004239.4(TRIP11):c.4983C>T (p.Val1661=)
|
rs201628289
|
0.00011
|
NM_000112.4(SLC26A2):c.196T>C (p.Phe66Leu)
|
rs200981220
|
0.00010
|
NM_004239.4(TRIP11):c.1186+14G>A
|
rs371492052
|
0.00010
|
NM_004239.4(TRIP11):c.3078A>G (p.Lys1026=)
|
rs370090737
|
0.00010
|
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.1761C>T (p.Leu587=)
|
rs745590895
|
0.00009
|
NM_000112.4(SLC26A2):c.193A>G (p.Asn65Asp)
|
rs755049614
|
0.00009
|
NM_000112.4(SLC26A2):c.2129A>G (p.Tyr710Cys)
|
rs374692915
|
0.00009
|
NM_000112.4(SLC26A2):c.704C>T (p.Ala235Val)
|
rs777906405
|
0.00009
|
NM_000112.4(SLC26A2):c.897G>A (p.Lys299=)
|
rs199635266
|
0.00009
|
NM_004239.4(TRIP11):c.2226C>T (p.Thr742=)
|
rs754326584
|
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.2016T>A (p.Ala672=)
|
rs144317897
|
0.00008
|
NM_004239.4(TRIP11):c.492T>C (p.Phe164=)
|
rs367632896
|
0.00008
|
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_000112.4(SLC26A2):c.1059T>C (p.His353=)
|
rs114841644
|
0.00006
|
NM_000112.4(SLC26A2):c.1994A>C (p.His665Pro)
|
rs141798540
|
0.00006
|
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.3165T>C (p.Gly1055=)
|
rs369633634
|
0.00006
|
NM_004239.4(TRIP11):c.5307G>A (p.Met1769Ile)
|
rs199834800
|
0.00006
|
NM_000112.4(SLC26A2):c.1194A>T (p.Val398=)
|
rs886038240
|
0.00005
|
NM_000112.4(SLC26A2):c.2097T>C (p.Tyr699=)
|
rs761932822
|
0.00005
|
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_004239.4(TRIP11):c.783T>C (p.Tyr261=)
|
rs145020414
|
0.00005
|
NM_000112.4(SLC26A2):c.1170C>T (p.Ser390=)
|
rs757884368
|
0.00004
|
NM_000112.4(SLC26A2):c.1192G>A (p.Val398Ile)
|
rs374310335
|
0.00004
|
NM_000112.4(SLC26A2):c.1938G>A (p.Leu646=)
|
rs767843785
|
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.2829T>C (p.Phe943=)
|
rs758437737
|
0.00004
|
NM_004239.4(TRIP11):c.3441T>C (p.Phe1147=)
|
rs757706030
|
0.00004
|
NM_004239.4(TRIP11):c.4019A>C (p.Glu1340Ala)
|
rs766521899
|
0.00004
|
NM_004239.4(TRIP11):c.4159G>A (p.Glu1387Lys)
|
rs201607866
|
0.00004
|
NM_004239.4(TRIP11):c.4388G>A (p.Gly1463Glu)
|
rs769666779
|
0.00004
|
NM_004239.4(TRIP11):c.438C>T (p.Phe146=)
|
rs371786500
|
0.00004
|
NM_004239.4(TRIP11):c.5078C>T (p.Ala1693Val)
|
rs765791979
|
0.00004
|
NM_004239.4(TRIP11):c.5169G>A (p.Leu1723=)
|
rs2038276
|
0.00004
|
NM_004239.4(TRIP11):c.5192A>G (p.Asp1731Gly)
|
rs536393273
|
0.00004
|
NM_004239.4(TRIP11):c.5400T>C (p.His1800=)
|
rs371499684
|
0.00004
|
NM_004239.4(TRIP11):c.5637A>G (p.Pro1879=)
|
rs772959811
|
0.00004
|
NM_000112.4(SLC26A2):c.1639C>T (p.Gln547Ter)
|
rs775143472
|
0.00003
|
NM_000112.4(SLC26A2):c.1650del (p.Ser551fs)
|
rs386833497
|
0.00003
|
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.2144C>T (p.Ala715Val)
|
rs104893918
|
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.24A>G (p.Gln8=)
|
rs372345029
|
0.00003
|
NM_000112.4(SLC26A2):c.403C>A (p.Gln135Lys)
|
rs386833504
|
0.00003
|
NM_000112.4(SLC26A2):c.645T>C (p.Ser215=)
|
rs1396953137
|
0.00003
|
NM_000112.4(SLC26A2):c.764G>A (p.Gly255Glu)
|
rs104893917
|
0.00003
|
NM_000112.4(SLC26A2):c.875A>G (p.His292Arg)
|
rs761259326
|
0.00003
|
NM_000112.4(SLC26A2):c.993A>C (p.Ala331=)
|
rs772104667
|
0.00003
|
NM_004239.4(TRIP11):c.1587C>T (p.Ile529=)
|
rs762961289
|
0.00003
|
NM_004239.4(TRIP11):c.2916T>C (p.Ile972=)
|
rs1160135660
|
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.4128G>T (p.Ser1376=)
|
rs373454645
|
0.00003
|
NM_004239.4(TRIP11):c.4206A>G (p.Gln1402=)
|
rs746081059
|
0.00003
|
NM_004239.4(TRIP11):c.4443G>A (p.Ala1481=)
|
rs372272441
|
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_004239.4(TRIP11):c.5574+19C>A
|
rs561150244
|
0.00003
|
NM_004239.4(TRIP11):c.975A>G (p.Ala325=)
|
rs143126491
|
0.00003
|
NM_000112.4(SLC26A2):c.1355A>G (p.His452Arg)
|
rs1255485754
|
0.00002
|
NM_000112.4(SLC26A2):c.15T>C (p.Ser5=)
|
rs539335443
|
0.00002
|
NM_000112.4(SLC26A2):c.2037C>T (p.Ile679=)
|
rs762132863
|
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_000112.4(SLC26A2):c.96A>G (p.Gln32=)
|
rs371478671
|
0.00002
|
NM_004239.4(TRIP11):c.1039A>G (p.Met347Val)
|
rs758182094
|
0.00002
|
NM_004239.4(TRIP11):c.1098G>A (p.Lys366=)
|
rs201503194
|
0.00002
|
NM_004239.4(TRIP11):c.2377A>G (p.Lys793Glu)
|
rs1178042413
|
0.00002
|
NM_004239.4(TRIP11):c.2720A>G (p.His907Arg)
|
rs199740201
|
0.00002
|
NM_004239.4(TRIP11):c.3511A>G (p.Ile1171Val)
|
rs541713444
|
0.00002
|
NM_004239.4(TRIP11):c.3547T>C (p.Leu1183=)
|
rs770035158
|
0.00002
|
NM_004239.4(TRIP11):c.3669G>A (p.Glu1223=)
|
rs144920623
|
0.00002
|
NM_004239.4(TRIP11):c.4165G>A (p.Glu1389Lys)
|
rs770551258
|
0.00002
|
NM_004239.4(TRIP11):c.4339C>T (p.Leu1447=)
|
rs754283737
|
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.477C>T (p.Asp159=)
|
rs147932068
|
0.00002
|
NM_004239.4(TRIP11):c.5457+10C>T
|
rs781085529
|
0.00002
|
NM_004239.4(TRIP11):c.5630C>T (p.Pro1877Leu)
|
rs766363206
|
0.00002
|
NM_004239.4(TRIP11):c.657+16G>C
|
rs752274274
|
0.00002
|
NM_004239.4(TRIP11):c.657+9A>C
|
rs182914589
|
0.00002
|
NM_004239.4(TRIP11):c.81dup (p.Gly28fs)
|
rs779038293
|
0.00002
|
NM_000112.4(SLC26A2):c.1032A>G (p.Thr344=)
|
rs1185306663
|
0.00001
|
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.114C>T (p.Asp38=)
|
rs779527254
|
0.00001
|
NM_000112.4(SLC26A2):c.1178G>A (p.Gly393Asp)
|
rs794727476
|
0.00001
|
NM_000112.4(SLC26A2):c.1224T>C (p.His408=)
|
rs368695180
|
0.00001
|
NM_000112.4(SLC26A2):c.1320T>C (p.Leu440=)
|
rs1384352348
|
0.00001
|
NM_000112.4(SLC26A2):c.132C>A (p.Thr44=)
|
rs1202182617
|
0.00001
|
NM_000112.4(SLC26A2):c.1343C>G (p.Ser448Ter)
|
rs771098555
|
0.00001
|
NM_000112.4(SLC26A2):c.134A>G (p.Asn45Ser)
|
rs773892702
|
0.00001
|
NM_000112.4(SLC26A2):c.1405C>T (p.Leu469=)
|
rs1326501763
|
0.00001
|
NM_000112.4(SLC26A2):c.1427A>G (p.Tyr476Cys)
|
rs145765282
|
0.00001
|
NM_000112.4(SLC26A2):c.1476G>C (p.Arg492=)
|
rs758441320
|
0.00001
|
NM_000112.4(SLC26A2):c.1497G>A (p.Arg499=)
|
rs1755090535
|
0.00001
|
NM_000112.4(SLC26A2):c.1535C>A (p.Thr512Lys)
|
rs121908078
|
0.00001
|
NM_000112.4(SLC26A2):c.1605T>C (p.Val535=)
|
rs1364454145
|
0.00001
|
NM_000112.4(SLC26A2):c.1615A>G (p.Ile539Val)
|
rs1448915287
|
0.00001
|
NM_000112.4(SLC26A2):c.1647A>G (p.Pro549=)
|
rs200694484
|
0.00001
|
NM_000112.4(SLC26A2):c.1680T>C (p.Ser560=)
|
rs921384755
|
0.00001
|
NM_000112.4(SLC26A2):c.1719G>A (p.Gln573=)
|
rs1755095360
|
0.00001
|
NM_000112.4(SLC26A2):c.1745G>A (p.Arg582His)
|
rs368864462
|
0.00001
|
NM_000112.4(SLC26A2):c.1779A>G (p.Glu593=)
|
rs746558702
|
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.1950del (p.Ile651fs)
|
rs774648833
|
0.00001
|
NM_000112.4(SLC26A2):c.1982del (p.Thr661fs)
|
rs762137330
|
0.00001
|
NM_000112.4(SLC26A2):c.2012G>A (p.Arg671His)
|
rs1038419867
|
0.00001
|
NM_000112.4(SLC26A2):c.204G>A (p.Glu68=)
|
rs754399633
|
0.00001
|
NM_000112.4(SLC26A2):c.2094A>C (p.Glu698Asp)
|
rs371461728
|
0.00001
|
NM_000112.4(SLC26A2):c.2145G>A (p.Ala715=)
|
rs886060225
|
0.00001
|
NM_000112.4(SLC26A2):c.2184A>G (p.Val728=)
|
rs758010725
|
0.00001
|
NM_000112.4(SLC26A2):c.2190T>A (p.Val730=)
|
rs1256171696
|
0.00001
|
NM_000112.4(SLC26A2):c.21G>A (p.Glu7=)
|
rs768964077
|
0.00001
|
NM_000112.4(SLC26A2):c.306C>T (p.Tyr102=)
|
rs768809642
|
0.00001
|
NM_000112.4(SLC26A2):c.30C>T (p.Asn10=)
|
rs532261155
|
0.00001
|
NM_000112.4(SLC26A2):c.439G>T (p.Ala147Ser)
|
rs201012489
|
0.00001
|
NM_000112.4(SLC26A2):c.459C>G (p.Leu153=)
|
rs1370822641
|
0.00001
|
NM_000112.4(SLC26A2):c.502C>T (p.Leu168=)
|
rs745566850
|
0.00001
|
NM_000112.4(SLC26A2):c.525A>G (p.Thr175=)
|
rs1755029554
|
0.00001
|
NM_000112.4(SLC26A2):c.533G>A (p.Arg178Gln)
|
rs747117439
|
0.00001
|
NM_000112.4(SLC26A2):c.696T>C (p.Tyr232=)
|
rs1039294894
|
0.00001
|
NM_000112.4(SLC26A2):c.699+3A>C
|
rs778015831
|
0.00001
|
NM_000112.4(SLC26A2):c.700-15T>C
|
rs1224222753
|
0.00001
|
NM_000112.4(SLC26A2):c.705G>A (p.Ala235=)
|
rs112360373
|
0.00001
|
NM_000112.4(SLC26A2):c.756G>A (p.Leu252=)
|
rs138717538
|
0.00001
|
NM_000112.4(SLC26A2):c.767T>C (p.Phe256Ser)
|
rs1419613966
|
0.00001
|
NM_000112.4(SLC26A2):c.776G>T (p.Gly259Val)
|
rs769319202
|
0.00001
|
NM_000112.4(SLC26A2):c.796dup (p.Thr266fs)
|
rs767996373
|
0.00001
|
NM_000112.4(SLC26A2):c.81C>T (p.Ile27=)
|
rs387907491
|
0.00001
|
NM_000112.4(SLC26A2):c.855A>C (p.Ser285=)
|
rs769248385
|
0.00001
|
NM_000112.4(SLC26A2):c.858C>T (p.Leu286=)
|
rs748677654
|
0.00001
|
NM_000112.4(SLC26A2):c.882C>T (p.Phe294=)
|
rs368422840
|
0.00001
|
NM_000112.4(SLC26A2):c.903T>C (p.Asn301=)
|
rs754890390
|
0.00001
|
NM_000112.4(SLC26A2):c.924C>T (p.Ser308=)
|
rs767409327
|
0.00001
|
NM_000112.4(SLC26A2):c.940G>A (p.Val314Ile)
|
rs777527899
|
0.00001
|
NM_000112.4(SLC26A2):c.996G>A (p.Pro332=)
|
rs376300575
|
0.00001
|
NM_004239.4(TRIP11):c.1173A>G (p.Gln391=)
|
rs747940125
|
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.1272C>T (p.Ile424=)
|
rs750544930
|
0.00001
|
NM_004239.4(TRIP11):c.1312A>G (p.Lys438Glu)
|
rs1479064739
|
0.00001
|
NM_004239.4(TRIP11):c.1432G>A (p.Ala478Thr)
|
rs201112407
|
0.00001
|
NM_004239.4(TRIP11):c.1530C>T (p.His510=)
|
rs201718152
|
0.00001
|
NM_004239.4(TRIP11):c.1547A>G (p.Asp516Gly)
|
rs1018806781
|
0.00001
|
NM_004239.4(TRIP11):c.1578T>C (p.Asp526=)
|
rs1030941975
|
0.00001
|
NM_004239.4(TRIP11):c.1818T>C (p.Asn606=)
|
rs773745539
|
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.231T>C (p.Asp77=)
|
rs1274694103
|
0.00001
|
NM_004239.4(TRIP11):c.2557C>T (p.Arg853Ter)
|
rs1053206465
|
0.00001
|
NM_004239.4(TRIP11):c.2558G>A (p.Arg853Gln)
|
rs749954388
|
0.00001
|
NM_004239.4(TRIP11):c.2595G>A (p.Leu865=)
|
rs751594257
|
0.00001
|
NM_004239.4(TRIP11):c.2603A>G (p.Glu868Gly)
|
rs1306336953
|
0.00001
|
NM_004239.4(TRIP11):c.2611C>T (p.Arg871Ter)
|
rs999557873
|
0.00001
|
NM_004239.4(TRIP11):c.2782C>T (p.Gln928Ter)
|
rs1257379792
|
0.00001
|
NM_004239.4(TRIP11):c.297A>G (p.Gln99=)
|
rs1427804097
|
0.00001
|
NM_004239.4(TRIP11):c.3039A>C (p.Leu1013Phe)
|
rs1425069965
|
0.00001
|
NM_004239.4(TRIP11):c.3327T>C (p.Thr1109=)
|
rs767150020
|
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.3903C>T (p.Thr1301=)
|
rs754046173
|
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.4266A>G (p.Gln1422=)
|
rs774335020
|
0.00001
|
NM_004239.4(TRIP11):c.4434A>G (p.Glu1478=)
|
rs201733332
|
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.4892+12A>T
|
rs768218216
|
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.5188T>C (p.Leu1730=)
|
rs751436632
|
0.00001
|
NM_004239.4(TRIP11):c.526C>T (p.Arg176Ter)
|
rs758589172
|
0.00001
|
NM_004239.4(TRIP11):c.5334A>G (p.Lys1778=)
|
rs1278413331
|
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.5571T>C (p.Asn1857=)
|
rs369316409
|
0.00001
|
NM_004239.4(TRIP11):c.5607A>G (p.Glu1869=)
|
rs764596712
|
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.5805A>G (p.Pro1935=)
|
rs1465680661
|
0.00001
|
NM_004239.4(TRIP11):c.5811A>C (p.Gly1937=)
|
rs748645116
|
0.00001
|
NM_004239.4(TRIP11):c.588+2T>C
|
rs2057114964
|
0.00001
|
NM_004239.4(TRIP11):c.5922A>G (p.Lys1974=)
|
rs151317471
|
0.00001
|
NM_004239.4(TRIP11):c.663A>G (p.Leu221=)
|
rs1447964928
|
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
|
NM_004239.4(TRIP11):c.969T>G (p.Ser323=)
|
rs768358054
|
0.00001
|
NC_000005.9:g.(?_149357216)_(149361376_?)del
|
|
|
NC_000014.8:g.(?_90429459)_(94856914_?)dup
|
|
|
NC_000014.8:g.(?_92505871)_(92506029_?)dup
|
|
|
NM_000112.4(SLC26A2):c.100del (p.Glu34fs)
|
rs2113695568
|
|
NM_000112.4(SLC26A2):c.1011T>G (p.Leu337=)
|
|
|
NM_000112.4(SLC26A2):c.1011TGT[3] (p.Val341del)
|
rs121908077
|
|
NM_000112.4(SLC26A2):c.1017T>C (p.Val339=)
|
rs755813228
|
|
NM_000112.4(SLC26A2):c.1020T>C (p.Val340=)
|
|
|
NM_000112.4(SLC26A2):c.1023A>G (p.Val341=)
|
rs756825639
|
|
NM_000112.4(SLC26A2):c.1038C>T (p.Ala346=)
|
rs1581231895
|
|
NM_000112.4(SLC26A2):c.1040C>T (p.Ser347Phe)
|
|
|
NM_000112.4(SLC26A2):c.104C>G (p.Ser35Ter)
|
|
|
NM_000112.4(SLC26A2):c.1052A>G (p.Lys351Arg)
|
|
|
NM_000112.4(SLC26A2):c.1053A>G (p.Lys351=)
|
|
|
NM_000112.4(SLC26A2):c.1054C>T (p.Leu352=)
|
|
|
NM_000112.4(SLC26A2):c.105A>G (p.Ser35=)
|
rs765269781
|
|
NM_000112.4(SLC26A2):c.105A>T (p.Ser35=)
|
rs765269781
|
|
NM_000112.4(SLC26A2):c.1060G>T (p.Glu354Ter)
|
rs1057517532
|
|
NM_000112.4(SLC26A2):c.1064_1065insAAAAA (p.Asn355fs)
|
rs2113698201
|
|
NM_000112.4(SLC26A2):c.1086A>G (p.Gly362=)
|
|
|
NM_000112.4(SLC26A2):c.1091T>C (p.Ile364Thr)
|
rs1360579129
|
|
NM_000112.4(SLC26A2):c.1098T>C (p.Thr366=)
|
rs146912557
|
|
NM_000112.4(SLC26A2):c.1101G>A (p.Gly367=)
|
|
|
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.1119A>T (p.Val373=)
|
rs1561822062
|
|
NM_000112.4(SLC26A2):c.1125A>G (p.Glu375=)
|
rs2113698285
|
|
NM_000112.4(SLC26A2):c.1131C>T (p.Asn377=)
|
rs2113698293
|
|
NM_000112.4(SLC26A2):c.1135A>C (p.Ile379Leu)
|
|
|
NM_000112.4(SLC26A2):c.1147_1150del (p.Val382_Ala383insTer)
|
rs1294262903
|
|
NM_000112.4(SLC26A2):c.1154A>C (p.Asp385Ala)
|
rs2113698323
|
|
NM_000112.4(SLC26A2):c.1155del (p.Asp385fs)
|
rs2113698329
|
|
NM_000112.4(SLC26A2):c.1157C>G (p.Ala386Gly)
|
rs386833493
|
|
NM_000112.4(SLC26A2):c.1157C>T (p.Ala386Val)
|
rs386833493
|
|
NM_000112.4(SLC26A2):c.1158A>G (p.Ala386=)
|
rs2113698338
|
|
NM_000112.4(SLC26A2):c.1169C>T (p.Ser390Phe)
|
|
|
NM_000112.4(SLC26A2):c.117C>G (p.Phe39Leu)
|
|
|
NM_000112.4(SLC26A2):c.117C>T (p.Phe39=)
|
rs376023150
|
|
NM_000112.4(SLC26A2):c.1188C>T (p.Ile396=)
|
rs1755082955
|
|
NM_000112.4(SLC26A2):c.118A>T (p.Lys40Ter)
|
|
|
NM_000112.4(SLC26A2):c.1197A>G (p.Ser399=)
|
|
|
NM_000112.4(SLC26A2):c.1203_1204insTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCATTTTCT (p.Glu402delinsPhePhePhePhePhePheXaaXaaXaaXaaThrGlyPheHisLeuValSerGlnAspGlyLeuAspLeuLeuThrSerTer)
|
rs2113698410
|
|
NM_000112.4(SLC26A2):c.1227T>A (p.Gly409=)
|
rs2113698437
|
|
NM_000112.4(SLC26A2):c.1229A>G (p.Tyr410Cys)
|
rs1297067317
|
|
NM_000112.4(SLC26A2):c.1230C>T (p.Tyr410=)
|
|
|
NM_000112.4(SLC26A2):c.1245C>T (p.Asn415=)
|
rs2113698482
|
|
NM_000112.4(SLC26A2):c.1246C>T (p.Gln416Ter)
|
rs2113698485
|
|
NM_000112.4(SLC26A2):c.1252A>G (p.Met418Val)
|
rs374309119
|
|
NM_000112.4(SLC26A2):c.1257T>C (p.Tyr419=)
|
|
|
NM_000112.4(SLC26A2):c.1264G>A (p.Gly422Ser)
|
|
|
NM_000112.4(SLC26A2):c.1265G>C (p.Gly422Ala)
|
|
|
NM_000112.4(SLC26A2):c.1269T>C (p.Phe423=)
|
|
|
NM_000112.4(SLC26A2):c.1272dup (p.Asn425Ter)
|
rs2113698511
|
|
NM_000112.4(SLC26A2):c.1273A>G (p.Asn425Asp)
|
rs104893920
|
|
NM_000112.4(SLC26A2):c.1277T>A (p.Ile426Asn)
|
rs2113698521
|
|
NM_000112.4(SLC26A2):c.1277T>C (p.Ile426Thr)
|
rs2113698521
|
|
NM_000112.4(SLC26A2):c.1284T>G (p.Pro428=)
|
|
|
NM_000112.4(SLC26A2):c.12A>G (p.Glu4=)
|
rs2113695425
|
|
NM_000112.4(SLC26A2):c.1305T>C (p.Thr435=)
|
|
|
NM_000112.4(SLC26A2):c.1306del (p.Thr436fs)
|
rs1290183098
|
|
NM_000112.4(SLC26A2):c.1312G>T (p.Ala438Ser)
|
|
|
NM_000112.4(SLC26A2):c.132C>G (p.Thr44=)
|
rs1202182617
|
|
NM_000112.4(SLC26A2):c.1330T>C (p.Leu444=)
|
|
|
NM_000112.4(SLC26A2):c.1332G>A (p.Leu444=)
|
|
|
NM_000112.4(SLC26A2):c.1336A>T (p.Lys446Ter)
|
|
|
NM_000112.4(SLC26A2):c.1341A>G (p.Glu447=)
|
|
|
NM_000112.4(SLC26A2):c.1343C>A (p.Ser448Ter)
|
|
|
NM_000112.4(SLC26A2):c.1353C>T (p.Cys451=)
|
|
|
NM_000112.4(SLC26A2):c.1362G>A (p.Gln454=)
|
rs2113698636
|
|
NM_000112.4(SLC26A2):c.1365T>C (p.Leu455=)
|
|
|
NM_000112.4(SLC26A2):c.136_137insTT (p.Asp46fs)
|
|
|
NM_000112.4(SLC26A2):c.1374G>A (p.Val458=)
|
|
|
NM_000112.4(SLC26A2):c.1381G>T (p.Ala461Ser)
|
|
|
NM_000112.4(SLC26A2):c.1384C>T (p.Leu462=)
|
|
|
NM_000112.4(SLC26A2):c.1386G>C (p.Leu462=)
|
|
|
NM_000112.4(SLC26A2):c.1386G>T (p.Leu462=)
|
|
|
NM_000112.4(SLC26A2):c.138dup (p.Gln47fs)
|
rs1755018682
|
|
NM_000112.4(SLC26A2):c.1393_1394del (p.Leu465fs)
|
rs386833495
|
|
NM_000112.4(SLC26A2):c.1394del (p.Leu465fs)
|
rs386833495
|
|
NM_000112.4(SLC26A2):c.1395G>A (p.Leu465=)
|
rs1456276336
|
|
NM_000112.4(SLC26A2):c.1397dup (p.Leu466fs)
|
rs1755088251
|
|
NM_000112.4(SLC26A2):c.1398G>A (p.Leu466=)
|
|
|
NM_000112.4(SLC26A2):c.1401C>T (p.Val467=)
|
|
|
NM_000112.4(SLC26A2):c.1405C>G (p.Leu469Val)
|
|
|
NM_000112.4(SLC26A2):c.1407A>G (p.Leu469=)
|
rs2113698698
|
|
NM_000112.4(SLC26A2):c.1407A>T (p.Leu469=)
|
rs2113698698
|
|
NM_000112.4(SLC26A2):c.1416T>A (p.Ala472=)
|
|
|
NM_000112.4(SLC26A2):c.141A>G (p.Gln47=)
|
rs1194896006
|
|
NM_000112.4(SLC26A2):c.1421del (p.Leu474fs)
|
rs780990131
|
|
NM_000112.4(SLC26A2):c.1423T>C (p.Phe475Leu)
|
|
|
NM_000112.4(SLC26A2):c.1428T>G (p.Tyr476Ter)
|
|
|
NM_000112.4(SLC26A2):c.1432del (p.Leu478fs)
|
rs1755089179
|
|
NM_000112.4(SLC26A2):c.1437A>G (p.Gln479=)
|
|
|
NM_000112.4(SLC26A2):c.1439A>G (p.Lys480Arg)
|
|
|
NM_000112.4(SLC26A2):c.1441del (p.Ser481fs)
|
rs745774620
|
|
NM_000112.4(SLC26A2):c.1441dup (p.Ser481fs)
|
rs745774620
|
|
NM_000112.4(SLC26A2):c.1446C>T (p.Val482=)
|
|
|
NM_000112.4(SLC26A2):c.1447C>T (p.Leu483Phe)
|
|
|
NM_000112.4(SLC26A2):c.144C>T (p.Cys48=)
|
|
|
NM_000112.4(SLC26A2):c.1452T>C (p.Gly484=)
|
|
|
NM_000112.4(SLC26A2):c.1458C>A (p.Ile486=)
|
|
|
NM_000112.4(SLC26A2):c.1463T>C (p.Ile488Thr)
|
rs2113698778
|
|
NM_000112.4(SLC26A2):c.1473A>G (p.Leu491=)
|
|
|
NM_000112.4(SLC26A2):c.1481C>T (p.Ala494Val)
|
|
|
NM_000112.4(SLC26A2):c.1483dup (p.Leu495fs)
|
|
|
NM_000112.4(SLC26A2):c.1486C>T (p.Arg496Cys)
|
|
|
NM_000112.4(SLC26A2):c.1487_1488insGGCG (p.Lys497fs)
|
rs2113698812
|
|
NM_000112.4(SLC26A2):c.1494T>C (p.Phe498=)
|
|
|
NM_000112.4(SLC26A2):c.149C>T (p.Pro50Leu)
|
rs1755018969
|
|
NM_000112.4(SLC26A2):c.1506C>A (p.Pro502=)
|
|
|
NM_000112.4(SLC26A2):c.1506C>G (p.Pro502=)
|
|
|
NM_000112.4(SLC26A2):c.1509_1514del (p.Met504_Trp505del)
|
|
|
NM_000112.4(SLC26A2):c.1513T>C (p.Trp505Arg)
|
rs2113698845
|
|
NM_000112.4(SLC26A2):c.1514G>A (p.Trp505Ter)
|
|
|
NM_000112.4(SLC26A2):c.1537_1541dup (p.Ile514fs)
|
rs1057517511
|
|
NM_000112.4(SLC26A2):c.1541T>C (p.Ile514Thr)
|
|
|
NM_000112.4(SLC26A2):c.1542C>T (p.Ile514=)
|
|
|
NM_000112.4(SLC26A2):c.1544G>A (p.Trp515Ter)
|
rs2113698870
|
|
NM_000112.4(SLC26A2):c.1549G>C (p.Val517Leu)
|
|
|
NM_000112.4(SLC26A2):c.1551T>A (p.Val517=)
|
rs368016373
|
|
NM_000112.4(SLC26A2):c.1551T>C (p.Val517=)
|
rs368016373
|
|
NM_000112.4(SLC26A2):c.1554T>G (p.Thr518=)
|
|
|
NM_000112.4(SLC26A2):c.1558C>T (p.Leu520=)
|
|
|
NM_000112.4(SLC26A2):c.1564T>C (p.Ser522Pro)
|
|
|
NM_000112.4(SLC26A2):c.1569A>G (p.Ala523=)
|
|
|
NM_000112.4(SLC26A2):c.1575A>G (p.Leu525=)
|
|
|
NM_000112.4(SLC26A2):c.1592del (p.Leu531fs)
|
rs2113698924
|
|
NM_000112.4(SLC26A2):c.159G>A (p.Arg53=)
|
rs766615254
|
|
NM_000112.4(SLC26A2):c.15_19del (p.Ser5fs)
|
rs1459144096
|
|
NM_000112.4(SLC26A2):c.1616T>A (p.Ile539Lys)
|
|
|
NM_000112.4(SLC26A2):c.1625_1650delinsAACACCA (p.Val542fs)
|
rs1755093032
|
|
NM_000112.4(SLC26A2):c.1629C>T (p.Ile543=)
|
|
|
NM_000112.4(SLC26A2):c.162C>T (p.Ile54=)
|
|
|
NM_000112.4(SLC26A2):c.1630del (p.Leu544fs)
|
|
|
NM_000112.4(SLC26A2):c.1632C>A (p.Leu544=)
|
|
|
NM_000112.4(SLC26A2):c.1632C>G (p.Leu544=)
|
rs1581232304
|
|
NM_000112.4(SLC26A2):c.1634G>A (p.Arg545His)
|
rs745802790
|
|
NM_000112.4(SLC26A2):c.1641G>A (p.Gln547=)
|
|
|
NM_000112.4(SLC26A2):c.1644G>A (p.Lys548=)
|
rs2113699019
|
|
NM_000112.4(SLC26A2):c.1649del (p.Lys550fs)
|
rs1057517482
|
|
NM_000112.4(SLC26A2):c.1655C>A (p.Ser552Ter)
|
rs1755094376
|
|
NM_000112.4(SLC26A2):c.1655C>T (p.Ser552Leu)
|
rs1755094376
|
|
NM_000112.4(SLC26A2):c.1656A>G (p.Ser552=)
|
|
|
NM_000112.4(SLC26A2):c.165T>C (p.Leu55=)
|
|
|
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.1698G>A (p.Val566=)
|
rs953899172
|
|
NM_000112.4(SLC26A2):c.1707C>G (p.Tyr569Ter)
|
rs766836061
|
|
NM_000112.4(SLC26A2):c.1714del (p.Leu572fs)
|
rs2113699101
|
|
NM_000112.4(SLC26A2):c.171G>A (p.Glu57=)
|
rs2113695676
|
|
NM_000112.4(SLC26A2):c.1720_1721insCTAAGCCAGGCATCAAGATTTTCCGCTTTGTAGCCCCTCTCTACTACAGA (p.Ile574fs)
|
|
|
NM_000112.4(SLC26A2):c.1720del (p.Ile574fs)
|
rs2113699112
|
|
NM_000112.4(SLC26A2):c.1724A>G (p.Lys575Arg)
|
|
|
NM_000112.4(SLC26A2):c.1724del (p.Lys575fs)
|
rs386833498
|
|
NM_000112.4(SLC26A2):c.1728A>G (p.Pro576=)
|
|
|
NM_000112.4(SLC26A2):c.1731C>A (p.Gly577=)
|
|
|
NM_000112.4(SLC26A2):c.1731C>T (p.Gly577=)
|
|
|
NM_000112.4(SLC26A2):c.1739T>C (p.Ile580Thr)
|
|
|
NM_000112.4(SLC26A2):c.1740T>C (p.Ile580=)
|
rs2113699146
|
|
NM_000112.4(SLC26A2):c.1759C>T (p.Leu587Phe)
|
rs2113699190
|
|
NM_000112.4(SLC26A2):c.1761C>G (p.Leu587=)
|
rs745590895
|
|
NM_000112.4(SLC26A2):c.1764C>A (p.Tyr588Ter)
|
rs1554095364
|
|
NM_000112.4(SLC26A2):c.1767C>A (p.Tyr589Ter)
|
|
|
NM_000112.4(SLC26A2):c.1767C>T (p.Tyr589=)
|
rs2113699208
|
|
NM_000112.4(SLC26A2):c.1772del (p.Asn591fs)
|
rs2113699214
|
|
NM_000112.4(SLC26A2):c.1773C>T (p.Asn591=)
|
rs2113699222
|
|
NM_000112.4(SLC26A2):c.1777G>T (p.Glu593Ter)
|
rs905644652
|
|
NM_000112.4(SLC26A2):c.177A>G (p.Gln59=)
|
rs2113695687
|
|
NM_000112.4(SLC26A2):c.1782C>T (p.Cys594=)
|
|
|
NM_000112.4(SLC26A2):c.1785T>C (p.Phe595=)
|
|
|
NM_000112.4(SLC26A2):c.1788A>G (p.Lys596=)
|
rs776206829
|
|
NM_000112.4(SLC26A2):c.1796T>A (p.Leu599Ter)
|
|
|
NM_000112.4(SLC26A2):c.1797A>G (p.Leu599=)
|
|
|
NM_000112.4(SLC26A2):c.1805_1808del (p.Gln602fs)
|
|
|
NM_000112.4(SLC26A2):c.1806A>G (p.Gln602=)
|
|
|
NM_000112.4(SLC26A2):c.1806_1809del (p.Thr603fs)
|
rs1057517530
|
|
NM_000112.4(SLC26A2):c.1809T>C (p.Thr603=)
|
|
|
NM_000112.4(SLC26A2):c.1810_1811del (p.Val604fs)
|
rs2113699284
|
|
NM_000112.4(SLC26A2):c.1816C>A (p.Pro606Thr)
|
rs767618201
|
|
NM_000112.4(SLC26A2):c.1817del (p.Pro606fs)
|
rs1554095374
|
|
NM_000112.4(SLC26A2):c.1818A>C (p.Pro606=)
|
|
|
NM_000112.4(SLC26A2):c.1818A>G (p.Pro606=)
|
|
|
NM_000112.4(SLC26A2):c.1819A>G (p.Ile607Val)
|
|
|
NM_000112.4(SLC26A2):c.1833G>A (p.Val611=)
|
|
|
NM_000112.4(SLC26A2):c.1833G>T (p.Val611=)
|
rs2113699327
|
|
NM_000112.4(SLC26A2):c.1840AAG[1] (p.Lys615del)
|
|
|
NM_000112.4(SLC26A2):c.1847del (p.Ala616fs)
|
|
|
NM_000112.4(SLC26A2):c.1851A>G (p.Ala617=)
|
|
|
NM_000112.4(SLC26A2):c.1872A>G (p.Lys624=)
|
rs2113699382
|
|
NM_000112.4(SLC26A2):c.1878G>A (p.Val626=)
|
|
|
NM_000112.4(SLC26A2):c.1878del (p.Thr627fs)
|
rs1755100270
|
|
NM_000112.4(SLC26A2):c.1898A>T (p.Asp633Val)
|
|
|
NM_000112.4(SLC26A2):c.1908A>G (p.Ser636=)
|
|
|
NM_000112.4(SLC26A2):c.1926del (p.Leu644fs)
|
rs1481910744
|
|
NM_000112.4(SLC26A2):c.1936C>T (p.Leu646=)
|
|
|
NM_000112.4(SLC26A2):c.1939C>T (p.His647Tyr)
|
|
|
NM_000112.4(SLC26A2):c.1944T>C (p.Thr648=)
|
|
|
NM_000112.4(SLC26A2):c.1947A>C (p.Ile649=)
|
|
|
NM_000112.4(SLC26A2):c.1950G>A (p.Val650=)
|
|
|
NM_000112.4(SLC26A2):c.1955_1958del (p.Asp652fs)
|
rs1057517474
|
|
NM_000112.4(SLC26A2):c.1957T>G (p.Cys653Gly)
|
|
|
NM_000112.4(SLC26A2):c.1958G>A (p.Cys653Tyr)
|
rs1179580843
|
|
NM_000112.4(SLC26A2):c.1959C>T (p.Cys653=)
|
|
|
NM_000112.4(SLC26A2):c.1962T>C (p.Ser654=)
|
rs766291194
|
|
NM_000112.4(SLC26A2):c.1968del (p.Gln657fs)
|
|
|
NM_000112.4(SLC26A2):c.1971A>G (p.Gln657=)
|
|
|
NM_000112.4(SLC26A2):c.1980T>C (p.Asp660=)
|
rs2113699529
|
|
NM_000112.4(SLC26A2):c.1987G>A (p.Gly663Arg)
|
rs1554095397
|
|
NM_000112.4(SLC26A2):c.1989G>A (p.Gly663=)
|
rs1228064118
|
|
NM_000112.4(SLC26A2):c.1992C>G (p.Ile664Met)
|
|
|
NM_000112.4(SLC26A2):c.1992C>T (p.Ile664=)
|
|
|
NM_000112.4(SLC26A2):c.1994dup (p.His665fs)
|
rs2113699563
|
|
NM_000112.4(SLC26A2):c.1995C>T (p.His665=)
|
|
|
NM_000112.4(SLC26A2):c.1998A>C (p.Thr666=)
|
|
|
NM_000112.4(SLC26A2):c.1999C>T (p.Leu667=)
|
rs1180249974
|
|
NM_000112.4(SLC26A2):c.199A>C (p.Lys67Gln)
|
|
|
NM_000112.4(SLC26A2):c.2004A>G (p.Lys668=)
|
rs2113699583
|
|
NM_000112.4(SLC26A2):c.2004_2007del (p.Glu669fs)
|
rs1255552826
|
|
NM_000112.4(SLC26A2):c.2006A>T (p.Glu669Val)
|
rs574817339
|
|
NM_000112.4(SLC26A2):c.2011C>T (p.Arg671Cys)
|
|
|
NM_000112.4(SLC26A2):c.2013C>T (p.Arg671=)
|
|
|
NM_000112.4(SLC26A2):c.2017_2018del (p.Asp673fs)
|
rs772515802
|
|
NM_000112.4(SLC26A2):c.2018A>T (p.Asp673Val)
|
|
|
NM_000112.4(SLC26A2):c.2021A>G (p.Tyr674Cys)
|
rs772655429
|
|
NM_000112.4(SLC26A2):c.2025A>G (p.Glu675=)
|
rs1300640507
|
|
NM_000112.4(SLC26A2):c.2032_2033delinsCT (p.Gly678Leu)
|
rs2113699627
|
|
NM_000112.4(SLC26A2):c.2034A>G (p.Gly678=)
|
|
|
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.2049G>T (p.Leu683=)
|
rs2113699646
|
|
NM_000112.4(SLC26A2):c.2055G>A (p.Gln685=)
|
rs2113699656
|
|
NM_000112.4(SLC26A2):c.205T>C (p.Phe69Leu)
|
|
|
NM_000112.4(SLC26A2):c.2060A>G (p.Asn687Ser)
|
|
|
NM_000112.4(SLC26A2):c.2064C>G (p.Pro688=)
|
|
|
NM_000112.4(SLC26A2):c.2065A>G (p.Thr689Ala)
|
|
|
NM_000112.4(SLC26A2):c.2065_2066del (p.Thr689fs)
|
rs773490671
|
|
NM_000112.4(SLC26A2):c.2067T>C (p.Thr689=)
|
rs1031947295
|
|
NM_000112.4(SLC26A2):c.2068G>A (p.Val690Met)
|
rs746291695
|
|
NM_000112.4(SLC26A2):c.2080C>T (p.Leu694=)
|
|
|
NM_000112.4(SLC26A2):c.2085C>G (p.Thr695=)
|
rs1380563081
|
|
NM_000112.4(SLC26A2):c.2085del (p.Asn696fs)
|
|
|
NM_000112.4(SLC26A2):c.2087dup (p.Asn696fs)
|
|
|
NM_000112.4(SLC26A2):c.2088C>T (p.Asn696=)
|
rs780668685
|
|
NM_000112.4(SLC26A2):c.2088_2089delinsGT (p.Asn696_Gly697delinsLysTer)
|
|
|
NM_000112.4(SLC26A2):c.2095del (p.Tyr699fs)
|
|
|
NM_000112.4(SLC26A2):c.2097T>A (p.Tyr699Ter)
|
rs761932822
|
|
NM_000112.4(SLC26A2):c.2100C>T (p.Cys700=)
|
rs770187272
|
|
NM_000112.4(SLC26A2):c.2105dup (p.Glu703fs)
|
rs1581232733
|
|
NM_000112.4(SLC26A2):c.2109del (p.Glu704fs)
|
|
|
NM_000112.4(SLC26A2):c.210T>A (p.Val70=)
|
rs2113695741
|
|
NM_000112.4(SLC26A2):c.2124C>T (p.Leu708=)
|
|
|
NM_000112.4(SLC26A2):c.2124_2125dup (p.Phe709fs)
|
rs1554095433
|
|
NM_000112.4(SLC26A2):c.2127C>T (p.Phe709=)
|
|
|
NM_000112.4(SLC26A2):c.2130T>C (p.Tyr710=)
|
|
|
NM_000112.4(SLC26A2):c.2136G>A (p.Val712=)
|
|
|
NM_000112.4(SLC26A2):c.2143G>A (p.Ala715Thr)
|
rs759438521
|
|
NM_000112.4(SLC26A2):c.2146A>G (p.Met716Val)
|
|
|
NM_000112.4(SLC26A2):c.214A>T (p.Lys72Ter)
|
|
|
NM_000112.4(SLC26A2):c.216A>G (p.Lys72=)
|
rs1755020230
|
|
NM_000112.4(SLC26A2):c.2181A>T (p.Gly727=)
|
rs1755110758
|
|
NM_000112.4(SLC26A2):c.218del (p.Lys73fs)
|
rs2113695746
|
|
NM_000112.4(SLC26A2):c.2193C>T (p.Pro731=)
|
rs2113699885
|
|
NM_000112.4(SLC26A2):c.2217_*4del (p.Asp739fs)
|
|
|
NM_000112.4(SLC26A2):c.225GAA[1] (p.Lys76del)
|
rs1204857377
|
|
NM_000112.4(SLC26A2):c.228G>A (p.Lys76=)
|
rs2113695768
|
|
NM_000112.4(SLC26A2):c.235C>T (p.Gln79Ter)
|
rs1755020578
|
|
NM_000112.4(SLC26A2):c.239_243dup (p.Pro82fs)
|
rs1057517504
|
|
NM_000112.4(SLC26A2):c.241del (p.Ser81fs)
|
|
|
NM_000112.4(SLC26A2):c.243T>C (p.Ser81=)
|
|
|
NM_000112.4(SLC26A2):c.246A>G (p.Pro82=)
|
rs1755020721
|
|
NM_000112.4(SLC26A2):c.255C>A (p.Ala85=)
|
rs2113695792
|
|
NM_000112.4(SLC26A2):c.25C>G (p.His9Asp)
|
|
|
NM_000112.4(SLC26A2):c.261T>C (p.Asn87=)
|
rs2113695802
|
|
NM_000112.4(SLC26A2):c.264G>A (p.Met88Ile)
|
|
|
NM_000112.4(SLC26A2):c.276C>T (p.Phe92=)
|
|
|
NM_000112.4(SLC26A2):c.277del (p.Leu93fs)
|
|
|
NM_000112.4(SLC26A2):c.279T>C (p.Leu93=)
|
rs2113695822
|
|
NM_000112.4(SLC26A2):c.291G>A (p.Gln97=)
|
|
|
NM_000112.4(SLC26A2):c.294G>A (p.Trp98Ter)
|
|
|
NM_000112.4(SLC26A2):c.297C>A (p.Leu99=)
|
rs2113695846
|
|
NM_000112.4(SLC26A2):c.306C>G (p.Tyr102Ter)
|
rs768809642
|
|
NM_000112.4(SLC26A2):c.309_327del (p.Asp103fs)
|
|
|
NM_000112.4(SLC26A2):c.310C>T (p.Leu104=)
|
rs773000413
|
|
NM_000112.4(SLC26A2):c.315G>A (p.Lys105=)
|
rs1315598449
|
|
NM_000112.4(SLC26A2):c.321C>T (p.Asn107=)
|
rs1755022549
|
|
NM_000112.4(SLC26A2):c.327A>G (p.Leu109=)
|
|
|
NM_000112.4(SLC26A2):c.354G>T (p.Val118=)
|
|
|
NM_000112.4(SLC26A2):c.364T>C (p.Leu122=)
|
rs2113695923
|
|
NM_000112.4(SLC26A2):c.370C>A (p.Pro124Thr)
|
|
|
NM_000112.4(SLC26A2):c.372C>G (p.Pro124=)
|
|
|
NM_000112.4(SLC26A2):c.373C>T (p.Gln125Ter)
|
|
|
NM_000112.4(SLC26A2):c.375G>A (p.Gln125=)
|
|
|
NM_000112.4(SLC26A2):c.378C>G (p.Ser126=)
|
|
|
NM_000112.4(SLC26A2):c.381T>G (p.Ile127Met)
|
|
|
NM_000112.4(SLC26A2):c.384T>A (p.Ala128=)
|
|
|
NM_000112.4(SLC26A2):c.390C>G (p.Ser130=)
|
|
|
NM_000112.4(SLC26A2):c.390C>T (p.Ser130=)
|
rs1304914344
|
|
NM_000112.4(SLC26A2):c.391del (p.Leu131fs)
|
rs786200881
|
|
NM_000112.4(SLC26A2):c.393G>C (p.Leu131=)
|
|
|
NM_000112.4(SLC26A2):c.399_402dup (p.Gln135fs)
|
|
|
NM_000112.4(SLC26A2):c.402C>T (p.Gly134=)
|
|
|
NM_000112.4(SLC26A2):c.411T>G (p.Pro137=)
|
|
|
NM_000112.4(SLC26A2):c.414C>A (p.Val138=)
|
|
|
NM_000112.4(SLC26A2):c.420T>C (p.Gly140=)
|
|
|
NM_000112.4(SLC26A2):c.421C>T (p.Leu141=)
|
rs1755026916
|
|
NM_000112.4(SLC26A2):c.423G>A (p.Leu141=)
|
rs536620072
|
|
NM_000112.4(SLC26A2):c.426C>A (p.Tyr142Ter)
|
|
|
NM_000112.4(SLC26A2):c.426C>T (p.Tyr142=)
|
rs2113695999
|
|
NM_000112.4(SLC26A2):c.429A>T (p.Thr143=)
|
|
|
NM_000112.4(SLC26A2):c.431C>A (p.Ser144Tyr)
|
|
|
NM_000112.4(SLC26A2):c.438del (p.Phe146fs)
|
rs769859976
|
|
NM_000112.4(SLC26A2):c.438dup (p.Ala147fs)
|
rs769859976
|
|
NM_000112.4(SLC26A2):c.441C>G (p.Ala147=)
|
|
|
NM_000112.4(SLC26A2):c.451del (p.Tyr151fs)
|
rs786204675
|
|
NM_000112.4(SLC26A2):c.469T>A (p.Ser157Thr)
|
|
|
NM_000112.4(SLC26A2):c.473G>T (p.Arg158Leu)
|
rs143658243
|
|
NM_000112.4(SLC26A2):c.480C>A (p.Ile160=)
|
|
|
NM_000112.4(SLC26A2):c.485_486del (p.Val162fs)
|
rs763198695
|
|
NM_000112.4(SLC26A2):c.51T>C (p.Ala17=)
|
|
|
NM_000112.4(SLC26A2):c.51T>G (p.Ala17=)
|
rs369248348
|
|
NM_000112.4(SLC26A2):c.534A>G (p.Arg178=)
|
|
|
NM_000112.4(SLC26A2):c.540A>G (p.Leu180=)
|
|
|
NM_000112.4(SLC26A2):c.552C>G (p.Gly184=)
|
|
|
NM_000112.4(SLC26A2):c.558C>T (p.Asp186=)
|
|
|
NM_000112.4(SLC26A2):c.55G>T (p.Gly19Ter)
|
rs386833507
|
|
NM_000112.4(SLC26A2):c.560A>G (p.Asn187Ser)
|
|
|
NM_000112.4(SLC26A2):c.567dup (p.Ser190Ter)
|
|
|
NM_000112.4(SLC26A2):c.568A>G (p.Ser190Gly)
|
|
|
NM_000112.4(SLC26A2):c.573T>C (p.Ala191=)
|
rs137932620
|
|
NM_000112.4(SLC26A2):c.573T>G (p.Ala191=)
|
rs137932620
|
|
NM_000112.4(SLC26A2):c.578_581del (p.Pro192_Ser193insTer)
|
rs1554095154
|
|
NM_000112.4(SLC26A2):c.57A>G (p.Gly19=)
|
rs2113695489
|
|
NM_000112.4(SLC26A2):c.58_62dup (p.Asp21fs)
|
rs2113695485
|
|
NM_000112.4(SLC26A2):c.596A>G (p.Asn199Ser)
|
rs2113696251
|
|
NM_000112.4(SLC26A2):c.600G>A (p.Gly200=)
|
rs1301316751
|
|
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.627C>T (p.Asp209=)
|
|
|
NM_000112.4(SLC26A2):c.630G>A (p.Arg210=)
|
|
|
NM_000112.4(SLC26A2):c.630G>C (p.Arg210Ser)
|
|
|
NM_000112.4(SLC26A2):c.635G>T (p.Cys212Phe)
|
|
|
NM_000112.4(SLC26A2):c.636T>C (p.Cys212=)
|
rs2113696306
|
|
NM_000112.4(SLC26A2):c.650A>G (p.Tyr217Cys)
|
|
|
NM_000112.4(SLC26A2):c.651T>C (p.Tyr217=)
|
|
|
NM_000112.4(SLC26A2):c.672T>C (p.Thr224=)
|
|
|
NM_000112.4(SLC26A2):c.678C>A (p.Thr226=)
|
rs890587176
|
|
NM_000112.4(SLC26A2):c.687T>G (p.Ala229=)
|
|
|
NM_000112.4(SLC26A2):c.695A>G (p.Tyr232Cys)
|
|
|
NM_000112.4(SLC26A2):c.695dup (p.Tyr232Ter)
|
|
|
NM_000112.4(SLC26A2):c.697C>T (p.Gln233Ter)
|
rs1429562386
|
|
NM_000112.4(SLC26A2):c.699+15A>G
|
|
|
NM_000112.4(SLC26A2):c.699+17C>T
|
|
|
NM_000112.4(SLC26A2):c.69T>C (p.Tyr23=)
|
|
|
NM_000112.4(SLC26A2):c.69del (p.Pro24fs)
|
|
|
NM_000112.4(SLC26A2):c.700-12C>A
|
|
|
NM_000112.4(SLC26A2):c.700-14A>G
|
|
|
NM_000112.4(SLC26A2):c.700-16A>G
|
|
|
NM_000112.4(SLC26A2):c.700-18C>T
|
|
|
NM_000112.4(SLC26A2):c.700-8C>T
|
|
|
NM_000112.4(SLC26A2):c.705_711del (p.Met236fs)
|
rs386833508
|
|
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.72A>C (p.Pro24=)
|
rs759789848
|
|
NM_000112.4(SLC26A2):c.72A>G (p.Pro24=)
|
|
|
NM_000112.4(SLC26A2):c.732T>C (p.Val244=)
|
rs2113697643
|
|
NM_000112.4(SLC26A2):c.736_739del (p.Val246fs)
|
rs1057517524
|
|
NM_000112.4(SLC26A2):c.746C>G (p.Ser249Ter)
|
rs1057517514
|
|
NM_000112.4(SLC26A2):c.74C>G (p.Ser25Cys)
|
|
|
NM_000112.4(SLC26A2):c.750T>C (p.Asp250=)
|
rs1180284436
|
|
NM_000112.4(SLC26A2):c.759G>A (p.Leu253=)
|
rs2113697685
|
|
NM_000112.4(SLC26A2):c.75T>A (p.Ser25=)
|
|
|
NM_000112.4(SLC26A2):c.75T>C (p.Ser25=)
|
rs1755017011
|
|
NM_000112.4(SLC26A2):c.765A>C (p.Gly255=)
|
rs1755070961
|
|
NM_000112.4(SLC26A2):c.771C>T (p.Val257=)
|
rs2113697700
|
|
NM_000112.4(SLC26A2):c.774T>C (p.Thr258=)
|
rs2113697701
|
|
NM_000112.4(SLC26A2):c.775G>A (p.Gly259Ser)
|
rs2113697704
|
|
NM_000112.4(SLC26A2):c.777T>G (p.Gly259=)
|
rs2113697709
|
|
NM_000112.4(SLC26A2):c.779C>T (p.Ala260Val)
|
|
|
NM_000112.4(SLC26A2):c.786C>T (p.Phe262=)
|
rs1581231627
|
|
NM_000112.4(SLC26A2):c.78G>T (p.Gly26=)
|
|
|
NM_000112.4(SLC26A2):c.78_88dup (p.Glu30fs)
|
rs2113695509
|
|
NM_000112.4(SLC26A2):c.795T>C (p.Leu265=)
|
|
|
NM_000112.4(SLC26A2):c.810G>A (p.Lys270=)
|
rs753179470
|
|
NM_000112.4(SLC26A2):c.819del (p.Leu275fs)
|
rs750882937
|
|
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.837G>T (p.Arg279=)
|
rs1755073343
|
|
NM_000112.4(SLC26A2):c.840dup (p.Asn281Ter)
|
|
|
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.846T>C (p.Gly282=)
|
|
|
NM_000112.4(SLC26A2):c.854C>A (p.Ser285Ter)
|
|
|
NM_000112.4(SLC26A2):c.854C>T (p.Ser285Leu)
|
rs140041300
|
|
NM_000112.4(SLC26A2):c.858C>A (p.Leu286=)
|
|
|
NM_000112.4(SLC26A2):c.864T>C (p.Thr288=)
|
|
|
NM_000112.4(SLC26A2):c.866C>A (p.Thr289Asn)
|
rs1225377370
|
|
NM_000112.4(SLC26A2):c.867C>G (p.Thr289=)
|
rs1755075168
|
|
NM_000112.4(SLC26A2):c.876T>C (p.His292=)
|
rs1581231740
|
|
NM_000112.4(SLC26A2):c.888C>T (p.Asn296=)
|
|
|
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.906_907del (p.Leu302_Cys303insTer)
|
rs386833509
|
|
NM_000112.4(SLC26A2):c.909T>A (p.Cys303Ter)
|
|
|
NM_000112.4(SLC26A2):c.90A>G (p.Glu30=)
|
|
|
NM_000112.4(SLC26A2):c.916_929dup (p.Cys311fs)
|
|
|
NM_000112.4(SLC26A2):c.922del (p.Ser308fs)
|
rs1057517495
|
|
NM_000112.4(SLC26A2):c.925C>T (p.Leu309Phe)
|
|
|
NM_000112.4(SLC26A2):c.925del (p.Leu309fs)
|
rs1554095296
|
|
NM_000112.4(SLC26A2):c.931T>C (p.Cys311Arg)
|
rs377432261
|
|
NM_000112.4(SLC26A2):c.933C>T (p.Cys311=)
|
|
|
NM_000112.4(SLC26A2):c.93T>A (p.Leu31=)
|
|
|
NM_000112.4(SLC26A2):c.951A>G (p.Pro317=)
|
|
|
NM_000112.4(SLC26A2):c.953C>T (p.Thr318Ile)
|
|
|
NM_000112.4(SLC26A2):c.95A>T (p.Gln32Leu)
|
|
|
NM_000112.4(SLC26A2):c.961del (p.Leu321fs)
|
|
|
NM_000112.4(SLC26A2):c.963C>T (p.Leu321=)
|
|
|
NM_000112.4(SLC26A2):c.965A>G (p.Asn322Ser)
|
rs2113698024
|
|
NM_000112.4(SLC26A2):c.980C>T (p.Ser327Phe)
|
|
|
NM_000112.4(SLC26A2):c.984G>A (p.Lys328=)
|
|
|
NM_000112.4(SLC26A2):c.987T>A (p.Leu329=)
|
rs116302615
|
|
NM_000112.4(SLC26A2):c.990_992del (p.Ala331del)
|
|
|
NM_004239.4(TRIP11):c.1030A>C (p.Arg344=)
|
rs2140129658
|
|
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.1179A>C (p.Ala393=)
|
|
|
NM_004239.4(TRIP11):c.1186+10C>G
|
|
|
NM_004239.4(TRIP11):c.1186+18C>G
|
|
|
NM_004239.4(TRIP11):c.1186+1G>C
|
|
|
NM_004239.4(TRIP11):c.1186+5A>G
|
|
|
NM_004239.4(TRIP11):c.1191C>T (p.Ala397=)
|
|
|
NM_004239.4(TRIP11):c.1192G>A (p.Glu398Lys)
|
|
|
NM_004239.4(TRIP11):c.1227+15A>G
|
|
|
NM_004239.4(TRIP11):c.1228-4G>A
|
|
|
NM_004239.4(TRIP11):c.1268G>A (p.Arg423His)
|
|
|
NM_004239.4(TRIP11):c.1280T>A (p.Leu427Ter)
|
rs34761938
|
|
NM_004239.4(TRIP11):c.1295C>T (p.Ser432Leu)
|
|
|
NM_004239.4(TRIP11):c.1315-12T>C
|
|
|
NM_004239.4(TRIP11):c.1315-14T>C
|
|
|
NM_004239.4(TRIP11):c.1317A>G (p.Glu439=)
|
rs1260783301
|
|
NM_004239.4(TRIP11):c.1384G>T (p.Asp462Tyr)
|
|
|
NM_004239.4(TRIP11):c.140-20A>G
|
|
|
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.1527+7C>G
|
rs372704269
|
|
NM_004239.4(TRIP11):c.1527+9G>T
|
|
|
NM_004239.4(TRIP11):c.1580G>A (p.Ser527Asn)
|
|
|
NM_004239.4(TRIP11):c.1580G>C (p.Ser527Thr)
|
|
|
NM_004239.4(TRIP11):c.1605T>C (p.Asp535=)
|
|
|
NM_004239.4(TRIP11):c.1620A>C (p.Lys540Asn)
|
|
|
NM_004239.4(TRIP11):c.1622dup (p.Arg542fs)
|
|
|
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.1731C>T (p.Thr577=)
|
|
|
NM_004239.4(TRIP11):c.1743T>A (p.Leu581=)
|
|
|
NM_004239.4(TRIP11):c.1788A>G (p.Gln596=)
|
|
|
NM_004239.4(TRIP11):c.178A>G (p.Ile60Val)
|
|
|
NM_004239.4(TRIP11):c.1812G>A (p.Lys604=)
|
|
|
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.1833G>A (p.Glu611=)
|
rs1157724726
|
|
NM_004239.4(TRIP11):c.1849GAG[2] (p.Glu619del)
|
rs540412862
|
|
NM_004239.4(TRIP11):c.185C>A (p.Ala62Glu)
|
|
|
NM_004239.4(TRIP11):c.1887G>A (p.Gln629=)
|
|
|
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.1938_1941del (p.Arg647fs)
|
rs773312108
|
|
NM_004239.4(TRIP11):c.1974T>C (p.Leu658=)
|
|
|
NM_004239.4(TRIP11):c.1987dup (p.Gln663fs)
|
rs2140119519
|
|
NM_004239.4(TRIP11):c.1993A>G (p.Asn665Asp)
|
|
|
NM_004239.4(TRIP11):c.2004A>T (p.Leu668Phe)
|
rs762335316
|
|
NM_004239.4(TRIP11):c.201+10A>C
|
|
|
NM_004239.4(TRIP11):c.201+14_201+15del
|
|
|
NM_004239.4(TRIP11):c.201+15dup
|
|
|
NM_004239.4(TRIP11):c.2015C>T (p.Ala672Val)
|
rs1177784939
|
|
NM_004239.4(TRIP11):c.202-2A>G
|
rs863223281
|
|
NM_004239.4(TRIP11):c.202-4C>G
|
rs760649001
|
|
NM_004239.4(TRIP11):c.202-5del
|
|
|
NM_004239.4(TRIP11):c.2023G>A (p.Val675Ile)
|
|
|
NM_004239.4(TRIP11):c.2044T>C (p.Leu682=)
|
|
|
NM_004239.4(TRIP11):c.2098A>G (p.Asn700Asp)
|
rs2056895078
|
|
NM_004239.4(TRIP11):c.210G>A (p.Arg70=)
|
rs1364966765
|
|
NM_004239.4(TRIP11):c.210G>T (p.Arg70Ser)
|
|
|
NM_004239.4(TRIP11):c.2123del (p.Asn708fs)
|
rs747106242
|
|
NM_004239.4(TRIP11):c.2123dup (p.Asn708fs)
|
rs747106242
|
|
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.2247A>G (p.Ala749=)
|
|
|
NM_004239.4(TRIP11):c.2257A>C (p.Asn753His)
|
|
|
NM_004239.4(TRIP11):c.2257A>G (p.Asn753Asp)
|
|
|
NM_004239.4(TRIP11):c.2289T>C (p.His763=)
|
|
|
NM_004239.4(TRIP11):c.2314G>A (p.Asp772Asn)
|
rs775798114
|
|
NM_004239.4(TRIP11):c.2355G>A (p.Met785Ile)
|
rs373362974
|
|
NM_004239.4(TRIP11):c.2391A>G (p.Ser797=)
|
rs750316685
|
|
NM_004239.4(TRIP11):c.2406G>T (p.Glu802Asp)
|
rs2140118820
|
|
NM_004239.4(TRIP11):c.2421A>G (p.Thr807=)
|
|
|
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.2448dup (p.Ile817fs)
|
|
|
NM_004239.4(TRIP11):c.2455A>G (p.Lys819Glu)
|
|
|
NM_004239.4(TRIP11):c.2467_2470del (p.Arg823fs)
|
rs764561670
|
|
NM_004239.4(TRIP11):c.24C>G (p.Leu8=)
|
|
|
NM_004239.4(TRIP11):c.2542A>G (p.Ile848Val)
|
|
|
NM_004239.4(TRIP11):c.2547G>A (p.Glu849=)
|
|
|
NM_004239.4(TRIP11):c.2605T>C (p.Leu869=)
|
|
|
NM_004239.4(TRIP11):c.2609A>T (p.Glu870Val)
|
rs375135703
|
|
NM_004239.4(TRIP11):c.2610A>G (p.Glu870=)
|
|
|
NM_004239.4(TRIP11):c.262C>G (p.Gln88Glu)
|
|
|
NM_004239.4(TRIP11):c.2637C>T (p.Thr879=)
|
|
|
NM_004239.4(TRIP11):c.2638G>A (p.Ala880Thr)
|
|
|
NM_004239.4(TRIP11):c.2655T>G (p.Pro885=)
|
rs780729641
|
|
NM_004239.4(TRIP11):c.2665G>C (p.Asp889His)
|
|
|
NM_004239.4(TRIP11):c.2700A>G (p.Gln900=)
|
|
|
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.2853C>T (p.Asn951=)
|
|
|
NM_004239.4(TRIP11):c.2875T>C (p.Leu959=)
|
|
|
NM_004239.4(TRIP11):c.2883G>A (p.Lys961=)
|
|
|
NM_004239.4(TRIP11):c.2884G>T (p.Asp962Tyr)
|
rs2140118037
|
|
NM_004239.4(TRIP11):c.2907A>G (p.Gln969=)
|
rs2056881127
|
|
NM_004239.4(TRIP11):c.2909A>G (p.Lys970Arg)
|
rs2140118009
|
|
NM_004239.4(TRIP11):c.2911dup (p.Thr971fs)
|
|
|
NM_004239.4(TRIP11):c.2971T>G (p.Ser991Ala)
|
|
|
NM_004239.4(TRIP11):c.2985A>G (p.Gln995=)
|
|
|
NM_004239.4(TRIP11):c.3014A>T (p.Glu1005Val)
|
|
|
NM_004239.4(TRIP11):c.3054G>A (p.Thr1018=)
|
|
|
NM_004239.4(TRIP11):c.3091G>A (p.Glu1031Lys)
|
|
|
NM_004239.4(TRIP11):c.3104_3105insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAGATTAAACTTCT (p.Leu1035_Asn1036insPhePhePhePhePhePheXaaXaaXaaXaaSerThrArgLeuGlyLeuProLysCysTrpAspTyrArgArgGluProProArgProAlaGluIleLysLeuLeu)
|
|
|
NM_004239.4(TRIP11):c.312+12C>A
|
rs1483056188
|
|
NM_004239.4(TRIP11):c.312+14_312+15del
|
|
|
NM_004239.4(TRIP11):c.312+6T>C
|
|
|
NM_004239.4(TRIP11):c.313-18T>G
|
rs2140137748
|
|
NM_004239.4(TRIP11):c.313-6A>G
|
|
|
NM_004239.4(TRIP11):c.3133C>A (p.Gln1045Lys)
|
rs2140117610
|
|
NM_004239.4(TRIP11):c.3167A>C (p.Lys1056Thr)
|
|
|
NM_004239.4(TRIP11):c.3173del (p.Thr1058fs)
|
|
|
NM_004239.4(TRIP11):c.3216T>C (p.His1072=)
|
rs2056875931
|
|
NM_004239.4(TRIP11):c.3233C>T (p.Thr1078Ile)
|
rs2056875659
|
|
NM_004239.4(TRIP11):c.3268C>T (p.Gln1090Ter)
|
|
|
NM_004239.4(TRIP11):c.3270A>G (p.Gln1090=)
|
|
|
NM_004239.4(TRIP11):c.3281A>C (p.Tyr1094Ser)
|
rs1378528757
|
|
NM_004239.4(TRIP11):c.3352_3353del (p.Glu1118fs)
|
rs1566859264
|
|
NM_004239.4(TRIP11):c.3467G>C (p.Arg1156Thr)
|
rs2140117119
|
|
NM_004239.4(TRIP11):c.3475A>G (p.Ile1159Val)
|
|
|
NM_004239.4(TRIP11):c.3477del (p.Gln1160fs)
|
rs2056871742
|
|
NM_004239.4(TRIP11):c.349C>T (p.Leu117Phe)
|
|
|
NM_004239.4(TRIP11):c.3507del (p.Asp1170fs)
|
|
|
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.3641del (p.Lys1213_Leu1214insTer)
|
|
|
NM_004239.4(TRIP11):c.3660A>G (p.Lys1220=)
|
|
|
NM_004239.4(TRIP11):c.3708A>G (p.Gln1236=)
|
|
|
NM_004239.4(TRIP11):c.3728A>G (p.Gln1243Arg)
|
|
|
NM_004239.4(TRIP11):c.3756G>A (p.Gln1252=)
|
|
|
NM_004239.4(TRIP11):c.3773A>T (p.Asp1258Val)
|
|
|
NM_004239.4(TRIP11):c.3783T>A (p.Ser1261=)
|
|
|
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.384T>C (p.Ala128=)
|
|
|
NM_004239.4(TRIP11):c.3864A>G (p.Leu1288=)
|
rs2140116561
|
|
NM_004239.4(TRIP11):c.3880A>G (p.Ser1294Gly)
|
rs781290694
|
|
NM_004239.4(TRIP11):c.3903C>G (p.Thr1301=)
|
|
|
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)
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NM_004239.4(TRIP11):c.4012T>C (p.Leu1338=)
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NM_004239.4(TRIP11):c.4018G>A (p.Glu1340Lys)
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NM_004239.4(TRIP11):c.4020A>G (p.Glu1340=)
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NM_004239.4(TRIP11):c.4040A>G (p.Gln1347Arg)
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NM_004239.4(TRIP11):c.4128G>A (p.Ser1376=)
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rs373454645
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NM_004239.4(TRIP11):c.4130T>C (p.Ile1377Thr)
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rs1595386646
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NM_004239.4(TRIP11):c.4159_4161del (p.Glu1387del)
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rs1216670947
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NM_004239.4(TRIP11):c.4194A>G (p.Leu1398=)
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NM_004239.4(TRIP11):c.41A>C (p.Gln14Pro)
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NM_004239.4(TRIP11):c.4230G>A (p.Lys1410=)
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NM_004239.4(TRIP11):c.4280A>G (p.Asn1427Ser)
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NM_004239.4(TRIP11):c.429A>G (p.Ser143=)
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NM_004239.4(TRIP11):c.4311C>T (p.Asn1437=)
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NM_004239.4(TRIP11):c.4330G>A (p.Val1444Ile)
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rs779575181
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NM_004239.4(TRIP11):c.4330G>C (p.Val1444Leu)
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rs779575181
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NM_004239.4(TRIP11):c.4390G>A (p.Glu1464Lys)
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rs2056856064
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NM_004239.4(TRIP11):c.4392A>T (p.Glu1464Asp)
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NM_004239.4(TRIP11):c.4413A>G (p.Thr1471=)
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NM_004239.4(TRIP11):c.4416C>T (p.Tyr1472=)
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NM_004239.4(TRIP11):c.4418G>A (p.Arg1473Lys)
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NM_004239.4(TRIP11):c.4432_4433del (p.Glu1478fs)
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NM_004239.4(TRIP11):c.4434A>T (p.Glu1478Asp)
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NM_004239.4(TRIP11):c.4447C>A (p.Gln1483Lys)
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rs767207472
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NM_004239.4(TRIP11):c.4481G>C (p.Arg1494Pro)
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rs775469397
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NM_004239.4(TRIP11):c.4508_4511del (p.Met1503fs)
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NM_004239.4(TRIP11):c.4519G>C (p.Ala1507Pro)
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NM_004239.4(TRIP11):c.4536G>A (p.Gln1512=)
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NM_004239.4(TRIP11):c.4551_4554del (p.Lys1517fs)
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NM_004239.4(TRIP11):c.4557+13T>A
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NM_004239.4(TRIP11):c.4557+15G>T
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NM_004239.4(TRIP11):c.4558-11C>A
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NM_004239.4(TRIP11):c.4558-18A>C
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rs201561387
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NM_004239.4(TRIP11):c.4558-18A>T
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NM_004239.4(TRIP11):c.4558-5A>G
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NM_004239.4(TRIP11):c.4558-8T>C
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rs1467540429
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NM_004239.4(TRIP11):c.4567G>A (p.Gly1523Arg)
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NM_004239.4(TRIP11):c.4604T>C (p.Met1535Thr)
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NM_004239.4(TRIP11):c.4607A>G (p.Gln1536Arg)
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NM_004239.4(TRIP11):c.465A>C (p.Ser155=)
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NM_004239.4(TRIP11):c.4698+15T>C
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rs1595382942
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NM_004239.4(TRIP11):c.4698+17_4698+22del
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NM_004239.4(TRIP11):c.4699-13G>A
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NM_004239.4(TRIP11):c.4754G>A (p.Arg1585His)
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NM_004239.4(TRIP11):c.4761T>C (p.His1587=)
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NM_004239.4(TRIP11):c.4790G>A (p.Arg1597His)
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NM_004239.4(TRIP11):c.4817A>G (p.Glu1606Gly)
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NM_004239.4(TRIP11):c.4822A>G (p.Lys1608Glu)
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NM_004239.4(TRIP11):c.4828A>G (p.Arg1610Gly)
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rs1566855488
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NM_004239.4(TRIP11):c.4892+10del
|
rs794727098
|
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NM_004239.4(TRIP11):c.4892+19T>G
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NM_004239.4(TRIP11):c.4893-9del
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NM_004239.4(TRIP11):c.4922T>C (p.Leu1641Ser)
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NM_004239.4(TRIP11):c.4934T>C (p.Leu1645Ser)
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NM_004239.4(TRIP11):c.4965T>G (p.Thr1655=)
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rs2140105713
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NM_004239.4(TRIP11):c.4968G>A (p.Ala1656=)
|
rs768646025
|
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NM_004239.4(TRIP11):c.4968G>T (p.Ala1656=)
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NM_004239.4(TRIP11):c.5003A>G (p.Gln1668Arg)
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NM_004239.4(TRIP11):c.5007T>C (p.Tyr1669=)
|
rs2140105655
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NM_004239.4(TRIP11):c.5026C>T (p.Leu1676=)
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NM_004239.4(TRIP11):c.5056+12G>A
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NM_004239.4(TRIP11):c.5057-1G>A
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NM_004239.4(TRIP11):c.5068A>G (p.Met1690Val)
|
rs542557164
|
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NM_004239.4(TRIP11):c.5155T>C (p.Leu1719=)
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NM_004239.4(TRIP11):c.5160+11A>T
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NM_004239.4(TRIP11):c.5161-18T>C
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NM_004239.4(TRIP11):c.5161-3C>G
|
rs2140097525
|
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NM_004239.4(TRIP11):c.5174A>G (p.Glu1725Gly)
|
rs2140097477
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NM_004239.4(TRIP11):c.5199A>T (p.Ala1733=)
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NM_004239.4(TRIP11):c.5211A>G (p.Thr1737=)
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NM_004239.4(TRIP11):c.5234A>G (p.Glu1745Gly)
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NM_004239.4(TRIP11):c.5260+12del
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NM_004239.4(TRIP11):c.5260+18C>T
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NM_004239.4(TRIP11):c.5261-7A>T
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NM_004239.4(TRIP11):c.5285A>C (p.Asp1762Ala)
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NM_004239.4(TRIP11):c.533C>T (p.Ser178Leu)
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NM_004239.4(TRIP11):c.5343-18C>T
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NM_004239.4(TRIP11):c.5343-1G>C
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NM_004239.4(TRIP11):c.5343-4A>G
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NM_004239.4(TRIP11):c.5346C>T (p.Val1782=)
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NM_004239.4(TRIP11):c.5359C>T (p.Leu1787Phe)
|
rs2056450408
|
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NM_004239.4(TRIP11):c.5392C>T (p.Gln1798Ter)
|
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NM_004239.4(TRIP11):c.5409A>T (p.Leu1803Phe)
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NM_004239.4(TRIP11):c.5411G>A (p.Arg1804Gln)
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NM_004239.4(TRIP11):c.5433C>T (p.Gly1811=)
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NM_004239.4(TRIP11):c.5457+11G>A
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NM_004239.4(TRIP11):c.5458-15A>G
|
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NM_004239.4(TRIP11):c.5479G>T (p.Gly1827Cys)
|
rs1051340
|
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NM_004239.4(TRIP11):c.5519C>G (p.Ser1840Ter)
|
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NM_004239.4(TRIP11):c.5530C>G (p.Pro1844Ala)
|
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NM_004239.4(TRIP11):c.5549C>T (p.Pro1850Leu)
|
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NM_004239.4(TRIP11):c.5555A>G (p.Gln1852Arg)
|
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NM_004239.4(TRIP11):c.5568T>A (p.Val1856=)
|
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NM_004239.4(TRIP11):c.5575-1G>A
|
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NM_004239.4(TRIP11):c.5663C>T (p.Pro1888Leu)
|
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NM_004239.4(TRIP11):c.567C>T (p.Gly189=)
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NM_004239.4(TRIP11):c.5719+13A>T
|
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NM_004239.4(TRIP11):c.5744GAA[3] (p.Arg1916_Thr1917insArg)
|
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NM_004239.4(TRIP11):c.5754T>C (p.Asp1918=)
|
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NM_004239.4(TRIP11):c.5762C>T (p.Pro1921Leu)
|
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|
NM_004239.4(TRIP11):c.5829C>T (p.Pro1943=)
|
rs748903681
|
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NM_004239.4(TRIP11):c.5838T>C (p.Leu1946=)
|
|
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NM_004239.4(TRIP11):c.586C>G (p.Gln196Glu)
|
rs149079426
|
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NM_004239.4(TRIP11):c.588+11del
|
rs750898619
|
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NM_004239.4(TRIP11):c.588+17dup
|
|
|
NM_004239.4(TRIP11):c.5885C>T (p.Pro1962Leu)
|
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NM_004239.4(TRIP11):c.5888C>T (p.Ala1963Val)
|
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|
NM_004239.4(TRIP11):c.589-11_589-10del
|
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|
NM_004239.4(TRIP11):c.604G>A (p.Gly202Arg)
|
|
|
NM_004239.4(TRIP11):c.617_618del (p.Asn205_Ser206insTer)
|
rs1566867763
|
|
NM_004239.4(TRIP11):c.618T>C (p.Ser206=)
|
rs200485291
|
|
NM_004239.4(TRIP11):c.633A>G (p.Ile211Met)
|
rs2140133290
|
|
NM_004239.4(TRIP11):c.657+12del
|
|
|
NM_004239.4(TRIP11):c.658-13_658-11del
|
rs2140131557
|
|
NM_004239.4(TRIP11):c.658-18T>G
|
|
|
NM_004239.4(TRIP11):c.658-18_658-17insGGATTACAGGCGTGAGCCACCGCGCCCGGCC
|
|
|
NM_004239.4(TRIP11):c.661C>T (p.Leu221=)
|
|
|
NM_004239.4(TRIP11):c.688G>A (p.Asp230Asn)
|
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|
NM_004239.4(TRIP11):c.75C>T (p.Ser25=)
|
|
|
NM_004239.4(TRIP11):c.763C>T (p.Arg255Ter)
|
rs2140131376
|
|
NM_004239.4(TRIP11):c.774_777del (p.Ser259fs)
|
rs2057028176
|
|
NM_004239.4(TRIP11):c.790C>T (p.Arg264Ter)
|
rs267607138
|
|
NM_004239.4(TRIP11):c.824-9A>G
|
rs2140129910
|
|
NM_004239.4(TRIP11):c.863A>G (p.Tyr288Cys)
|
|
|
NM_004239.4(TRIP11):c.877dup (p.Thr293fs)
|
|
|
NM_004239.4(TRIP11):c.885A>G (p.Gln295=)
|
|
|
NM_004239.4(TRIP11):c.922del (p.Met308fs)
|
rs780178406
|
|
NM_004239.4(TRIP11):c.944_948del (p.Ile315fs)
|
|
|
NM_004239.4(TRIP11):c.953T>C (p.Ile318Thr)
|
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|
NM_004239.4(TRIP11):c.961A>G (p.Lys321Glu)
|
|
|
NM_004239.4(TRIP11):c.981T>A (p.Asn327Lys)
|
|
|
NM_004239.4(TRIP11):c.988_989del (p.Asp330fs)
|
rs750602133
|
|