ClinVar Miner

List of variants studied for achondrogenesis by Invitae

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1057
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HGVS dbSNP gnomAD frequency
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)
NM_004239.4(TRIP11):c.4012T>C (p.Leu1338=)
NM_004239.4(TRIP11):c.4018G>A (p.Glu1340Lys)
NM_004239.4(TRIP11):c.4020A>G (p.Glu1340=)
NM_004239.4(TRIP11):c.4040A>G (p.Gln1347Arg)
NM_004239.4(TRIP11):c.4128G>A (p.Ser1376=) rs373454645
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.4194A>G (p.Leu1398=)
NM_004239.4(TRIP11):c.41A>C (p.Gln14Pro)
NM_004239.4(TRIP11):c.4230G>A (p.Lys1410=)
NM_004239.4(TRIP11):c.4280A>G (p.Asn1427Ser)
NM_004239.4(TRIP11):c.429A>G (p.Ser143=)
NM_004239.4(TRIP11):c.4311C>T (p.Asn1437=)
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.4413A>G (p.Thr1471=)
NM_004239.4(TRIP11):c.4416C>T (p.Tyr1472=)
NM_004239.4(TRIP11):c.4418G>A (p.Arg1473Lys)
NM_004239.4(TRIP11):c.4432_4433del (p.Glu1478fs)
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.4508_4511del (p.Met1503fs)
NM_004239.4(TRIP11):c.4519G>C (p.Ala1507Pro)
NM_004239.4(TRIP11):c.4536G>A (p.Gln1512=)
NM_004239.4(TRIP11):c.4551_4554del (p.Lys1517fs)
NM_004239.4(TRIP11):c.4557+13T>A
NM_004239.4(TRIP11):c.4557+15G>T
NM_004239.4(TRIP11):c.4558-11C>A
NM_004239.4(TRIP11):c.4558-18A>C rs201561387
NM_004239.4(TRIP11):c.4558-18A>T
NM_004239.4(TRIP11):c.4558-5A>G
NM_004239.4(TRIP11):c.4558-8T>C rs1467540429
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.465A>C (p.Ser155=)
NM_004239.4(TRIP11):c.4698+15T>C rs1595382942
NM_004239.4(TRIP11):c.4698+17_4698+22del
NM_004239.4(TRIP11):c.4699-13G>A
NM_004239.4(TRIP11):c.4754G>A (p.Arg1585His)
NM_004239.4(TRIP11):c.4761T>C (p.His1587=)
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.4892+10del rs794727098
NM_004239.4(TRIP11):c.4892+19T>G
NM_004239.4(TRIP11):c.4893-9del
NM_004239.4(TRIP11):c.4922T>C (p.Leu1641Ser)
NM_004239.4(TRIP11):c.4934T>C (p.Leu1645Ser)
NM_004239.4(TRIP11):c.4965T>G (p.Thr1655=) rs2140105713
NM_004239.4(TRIP11):c.4968G>A (p.Ala1656=) rs768646025
NM_004239.4(TRIP11):c.4968G>T (p.Ala1656=)
NM_004239.4(TRIP11):c.5003A>G (p.Gln1668Arg)
NM_004239.4(TRIP11):c.5007T>C (p.Tyr1669=) rs2140105655
NM_004239.4(TRIP11):c.5026C>T (p.Leu1676=)
NM_004239.4(TRIP11):c.5056+12G>A
NM_004239.4(TRIP11):c.5057-1G>A
NM_004239.4(TRIP11):c.5068A>G (p.Met1690Val) rs542557164
NM_004239.4(TRIP11):c.5155T>C (p.Leu1719=)
NM_004239.4(TRIP11):c.5160+11A>T
NM_004239.4(TRIP11):c.5161-18T>C
NM_004239.4(TRIP11):c.5161-3C>G rs2140097525
NM_004239.4(TRIP11):c.5174A>G (p.Glu1725Gly) rs2140097477
NM_004239.4(TRIP11):c.5199A>T (p.Ala1733=)
NM_004239.4(TRIP11):c.5211A>G (p.Thr1737=)
NM_004239.4(TRIP11):c.5234A>G (p.Glu1745Gly)
NM_004239.4(TRIP11):c.5260+12del
NM_004239.4(TRIP11):c.5260+18C>T
NM_004239.4(TRIP11):c.5261-7A>T
NM_004239.4(TRIP11):c.5285A>C (p.Asp1762Ala)
NM_004239.4(TRIP11):c.533C>T (p.Ser178Leu)
NM_004239.4(TRIP11):c.5343-18C>T
NM_004239.4(TRIP11):c.5343-1G>C
NM_004239.4(TRIP11):c.5343-4A>G
NM_004239.4(TRIP11):c.5346C>T (p.Val1782=)
NM_004239.4(TRIP11):c.5359C>T (p.Leu1787Phe) rs2056450408
NM_004239.4(TRIP11):c.5392C>T (p.Gln1798Ter)
NM_004239.4(TRIP11):c.5409A>T (p.Leu1803Phe)
NM_004239.4(TRIP11):c.5411G>A (p.Arg1804Gln)
NM_004239.4(TRIP11):c.5433C>T (p.Gly1811=)
NM_004239.4(TRIP11):c.5457+11G>A
NM_004239.4(TRIP11):c.5458-15A>G
NM_004239.4(TRIP11):c.5479G>T (p.Gly1827Cys) rs1051340
NM_004239.4(TRIP11):c.5519C>G (p.Ser1840Ter)
NM_004239.4(TRIP11):c.5530C>G (p.Pro1844Ala)
NM_004239.4(TRIP11):c.5549C>T (p.Pro1850Leu)
NM_004239.4(TRIP11):c.5555A>G (p.Gln1852Arg)
NM_004239.4(TRIP11):c.5568T>A (p.Val1856=)
NM_004239.4(TRIP11):c.5575-1G>A
NM_004239.4(TRIP11):c.5663C>T (p.Pro1888Leu)
NM_004239.4(TRIP11):c.567C>T (p.Gly189=)
NM_004239.4(TRIP11):c.5719+13A>T
NM_004239.4(TRIP11):c.5744GAA[3] (p.Arg1916_Thr1917insArg)
NM_004239.4(TRIP11):c.5754T>C (p.Asp1918=)
NM_004239.4(TRIP11):c.5762C>T (p.Pro1921Leu)
NM_004239.4(TRIP11):c.5829C>T (p.Pro1943=) rs748903681
NM_004239.4(TRIP11):c.5838T>C (p.Leu1946=)
NM_004239.4(TRIP11):c.586C>G (p.Gln196Glu) rs149079426
NM_004239.4(TRIP11):c.588+11del rs750898619
NM_004239.4(TRIP11):c.588+17dup
NM_004239.4(TRIP11):c.5885C>T (p.Pro1962Leu)
NM_004239.4(TRIP11):c.5888C>T (p.Ala1963Val)
NM_004239.4(TRIP11):c.589-11_589-10del
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)
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)
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

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