ClinVar Miner

List of variants studied for achondrogenesis type IA by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 558
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004239.4(TRIP11):c.5479G>A (p.Gly1827Ser) rs1051340 0.29281
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_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_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_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_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_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_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_004239.4(TRIP11):c.5057-9T>G rs372161255 0.00070
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_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_004239.4(TRIP11):c.4139C>T (p.Thr1380Ile) rs117748213 0.00042
NM_004239.4(TRIP11):c.5085C>T (p.Leu1695=) rs138379032 0.00035
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_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_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_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_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_004239.4(TRIP11):c.4608G>A (p.Gln1536=) rs150069453 0.00014
NM_004239.4(TRIP11):c.5719+2T>C rs199736345 0.00014
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_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_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_004239.4(TRIP11):c.1186+14G>A rs371492052 0.00010
NM_004239.4(TRIP11):c.3078A>G (p.Lys1026=) rs370090737 0.00010
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_004239.4(TRIP11):c.2303A>G (p.Asn768Ser) rs140780067 0.00006
NM_004239.4(TRIP11):c.3082C>T (p.Arg1028Ter) rs149562813 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_004239.4(TRIP11):c.5469C>T (p.Asp1823=) rs762580256 0.00006
NM_004239.4(TRIP11):c.2043G>T (p.Lys681Asn) rs745781387 0.00005
NM_004239.4(TRIP11):c.307A>C (p.Lys103Gln) rs147048571 0.00005
NM_004239.4(TRIP11):c.484A>T (p.Met162Leu) rs553843359 0.00005
NM_004239.4(TRIP11):c.674G>A (p.Arg225Gln) rs746390355 0.00005
NM_004239.4(TRIP11):c.686T>C (p.Ile229Thr) rs886050908 0.00005
NM_004239.4(TRIP11):c.783T>C (p.Tyr261=) rs145020414 0.00005
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_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.506C>T (p.Ser169Leu) rs766742508 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_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_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.1897C>A (p.Gln633Lys) rs377170955 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_000014.8:g.(?_90429459)_(94856914_?)dup
NC_000014.8:g.(?_92436017)_(92436257_?)del
NC_000014.8:g.(?_92505871)_(92506029_?)dup
NM_004239.4(TRIP11):c.1030A>C (p.Arg344=) rs2140129658
NM_004239.4(TRIP11):c.1057T>C (p.Leu353=)
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.1187-17A>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.1233C>T (p.Asn411=)
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.1300C>T (p.Leu434=)
NM_004239.4(TRIP11):c.1314+10G>A
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.139+7G>T
NM_004239.4(TRIP11):c.140-20A>G
NM_004239.4(TRIP11):c.140-4G>A
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.1527+9_1527+10del
NM_004239.4(TRIP11):c.1532T>A (p.Met511Lys)
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.1752A>G (p.Lys584=)
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.1886del (p.Gln629fs)
NM_004239.4(TRIP11):c.1887G>A (p.Gln629=)
NM_004239.4(TRIP11):c.1924A>G (p.Thr642Ala)
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.201+6A>G
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.2238G>A (p.Leu746=)
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.2293A>C (p.Ile765Leu)
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.2366A>G (p.His789Arg)
NM_004239.4(TRIP11):c.236A>G (p.Glu79Gly)
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.2835C>T (p.Tyr945=)
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.2990C>G (p.Thr997Arg)
NM_004239.4(TRIP11):c.3014A>T (p.Glu1005Val)
NM_004239.4(TRIP11):c.3030G>A (p.Lys1010=)
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.313-12A>T
NM_004239.4(TRIP11):c.313-18T>G rs2140137748
NM_004239.4(TRIP11):c.313-4A>G
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.3411A>G (p.Gln1137=)
NM_004239.4(TRIP11):c.3417A>G (p.Glu1139=)
NM_004239.4(TRIP11):c.3450T>C (p.Ser1150=)
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.3499C>T (p.Arg1167Ter)
NM_004239.4(TRIP11):c.349C>T (p.Leu117Phe)
NM_004239.4(TRIP11):c.3507del (p.Asp1170fs)
NM_004239.4(TRIP11):c.3591A>T (p.Gly1197=)
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.3645A>G (p.Lys1215=)
NM_004239.4(TRIP11):c.3660A>G (p.Lys1220=)
NM_004239.4(TRIP11):c.3666A>G (p.Glu1222=) rs769979770
NM_004239.4(TRIP11):c.3693A>G (p.Thr1231=)
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.3876G>C (p.Gln1292His)
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.4353A>G (p.Ile1451Met)
NM_004239.4(TRIP11):c.4362A>G (p.Leu1454=)
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.4580A>C (p.Gln1527Pro)
NM_004239.4(TRIP11):c.4602A>G (p.Ser1534=)
NM_004239.4(TRIP11):c.4604T>C (p.Met1535Thr)
NM_004239.4(TRIP11):c.4607A>G (p.Gln1536Arg)
NM_004239.4(TRIP11):c.4651T>C (p.Leu1551=)
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.4950G>A (p.Lys1650=)
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+12dup
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.5349A>C (p.Leu1783=)
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.5616T>C (p.Ser1872=)
NM_004239.4(TRIP11):c.5663C>T (p.Pro1888Leu)
NM_004239.4(TRIP11):c.5676A>G (p.Pro1892=)
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.696T>C (p.His232=)
NM_004239.4(TRIP11):c.717G>A (p.Leu239=)
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.823+18T>C
NM_004239.4(TRIP11):c.824-7G>A
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.966A>G (p.Leu322=)
NM_004239.4(TRIP11):c.981T>A (p.Asn327Lys)
NM_004239.4(TRIP11):c.988_989del (p.Asp330fs) rs750602133

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