ClinVar Miner

List of variants in gene MKS1 studied for Meckel syndrome

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 826
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_017777.4(MKS1):c.858+9A>G rs3826300 0.53797
NM_017777.4(MKS1):c.*75C>T rs35184412 0.08455
NM_017777.4(MKS1):c.*414C>T rs2302313 0.08215
NM_017777.4(MKS1):c.1671G>C (p.Leu557=) rs11548967 0.06374
NM_017777.4(MKS1):c.*472C>G rs17174788 0.04345
NM_017777.4(MKS1):c.1273+11G>A rs16942826 0.01295
NM_017777.4(MKS1):c.*322G>T rs185405908 0.00571
NM_017777.4(MKS1):c.1436G>A (p.Arg479His) rs111315726 0.00476
NM_017777.4(MKS1):c.213C>G (p.Asp71Glu) rs142813109 0.00303
NM_017777.4(MKS1):c.1388G>A (p.Arg463Gln) rs201619500 0.00235
NM_017777.4(MKS1):c.1349T>C (p.Ile450Thr) rs200865108 0.00157
NM_017777.4(MKS1):c.261+7C>T rs200156751 0.00117
NM_017777.4(MKS1):c.857A>G (p.Asp286Gly) rs151023718 0.00083
NM_017777.4(MKS1):c.749+13A>G rs199550514 0.00072
NM_017777.4(MKS1):c.1024+13C>G rs374632643 0.00065
NM_017777.4(MKS1):c.1498A>G (p.Met500Val) rs144635826 0.00054
NM_017777.4(MKS1):c.874A>G (p.Lys292Glu) rs201845569 0.00052
NM_017777.4(MKS1):c.118C>T (p.His40Tyr) rs199832333 0.00042
NM_017777.4(MKS1):c.*134C>T rs34224064 0.00041
NM_017777.4(MKS1):c.544G>A (p.Val182Ile) rs200185068 0.00041
NM_017777.4(MKS1):c.515+12C>T rs372527189 0.00036
NM_017777.4(MKS1):c.496C>T (p.Arg166Trp) rs201845154 0.00034
NM_017777.4(MKS1):c.1414C>T (p.Arg472Cys) rs181513926 0.00029
NM_017777.4(MKS1):c.368G>A (p.Arg123Gln) rs202112856 0.00029
NM_017777.4(MKS1):c.249G>A (p.Lys83=) rs62636631 0.00024
NM_017777.4(MKS1):c.644+8G>T rs370117125 0.00022
NM_017777.4(MKS1):c.*603T>G rs578200260 0.00021
NM_017777.4(MKS1):c.83T>C (p.Val28Ala) rs201957874 0.00021
NM_017777.4(MKS1):c.469G>A (p.Glu157Lys) rs200970148 0.00020
NM_017777.4(MKS1):c.1176G>A (p.Pro392=) rs775169308 0.00019
NM_017777.4(MKS1):c.1363G>C (p.Glu455Gln) rs199927741 0.00019
NM_017777.4(MKS1):c.1408-3C>T rs377033273 0.00019
NM_017777.4(MKS1):c.491G>A (p.Arg164His) rs200149256 0.00018
NM_017777.4(MKS1):c.1113C>A (p.Phe371Leu) rs950609840 0.00016
NM_017777.4(MKS1):c.351G>A (p.Ser117=) rs370781583 0.00016
NM_017777.4(MKS1):c.199C>T (p.Arg67Cys) rs200340896 0.00014
NM_017777.4(MKS1):c.417G>A (p.Glu139=) rs386834048 0.00014
NM_017777.4(MKS1):c.959-4G>A rs201137386 0.00014
NM_017777.4(MKS1):c.1128G>A (p.Thr376=) rs369141016 0.00013
NM_017777.4(MKS1):c.903C>T (p.Thr301=) rs142805406 0.00013
NM_017777.4(MKS1):c.515+8C>T rs376823839 0.00012
NM_017777.4(MKS1):c.1287G>A (p.Leu429=) rs555977738 0.00011
NM_017777.4(MKS1):c.1601G>A (p.Arg534Gln) rs199910690 0.00011
NM_017777.4(MKS1):c.1605C>G (p.Ala535=) rs35493987 0.00011
NM_017777.4(MKS1):c.1609C>T (p.Arg537Cys) rs35464956 0.00011
NM_017777.4(MKS1):c.1653G>C (p.Val551=) rs34092089 0.00011
NM_017777.4(MKS1):c.1435C>T (p.Arg479Cys) rs769442220 0.00010
NM_017777.4(MKS1):c.1338G>A (p.Arg446=) rs1179924577 0.00009
NM_017777.4(MKS1):c.1597C>T (p.Arg533Cys) rs745946583 0.00009
NM_017777.4(MKS1):c.1640C>T (p.Pro547Leu) rs771585740 0.00009
NM_017777.4(MKS1):c.516-10T>C rs375046501 0.00009
NM_017777.4(MKS1):c.858+6C>T rs368774719 0.00009
NM_017777.4(MKS1):c.323G>A (p.Arg108His) rs200331553 0.00008
NM_017777.4(MKS1):c.759G>A (p.Thr253=) rs770140009 0.00008
NM_017777.4(MKS1):c.1134A>G (p.Glu378=) rs77365082 0.00007
NM_017777.4(MKS1):c.1298C>T (p.Thr433Met) rs755841031 0.00007
NM_017777.4(MKS1):c.468C>T (p.Val156=) rs199684837 0.00007
NM_017777.4(MKS1):c.994G>A (p.Val332Ile) rs775391594 0.00007
NM_017777.4(MKS1):c.1580A>G (p.Asn527Ser) rs774309110 0.00006
NM_017777.4(MKS1):c.1607G>A (p.Arg536Gln) rs746283445 0.00006
NM_017777.4(MKS1):c.673C>T (p.Leu225=) rs370632053 0.00006
NM_017777.4(MKS1):c.729G>A (p.Thr243=) rs373491923 0.00006
NM_017777.4(MKS1):c.894C>T (p.Leu298=) rs754839039 0.00006
NM_017777.4(MKS1):c.*49C>A rs371962780 0.00005
NM_017777.4(MKS1):c.1506G>A (p.Ser502=) rs368535131 0.00005
NM_017777.4(MKS1):c.498G>T (p.Arg166=) rs778956664 0.00005
NM_017777.4(MKS1):c.*415G>A rs750194631 0.00004
NM_017777.4(MKS1):c.*469C>T rs386465709 0.00004
NM_017777.4(MKS1):c.*594T>G rs371037402 0.00004
NM_017777.4(MKS1):c.1014G>A (p.Leu338=) rs201998680 0.00004
NM_017777.4(MKS1):c.1273+6C>T rs371480628 0.00004
NM_017777.4(MKS1):c.1273+7G>A rs569463908 0.00004
NM_017777.4(MKS1):c.1274-4G>A rs377033778 0.00004
NM_017777.4(MKS1):c.190+2T>C rs375170572 0.00004
NM_017777.4(MKS1):c.191-6T>G rs748412372 0.00004
NM_017777.4(MKS1):c.261+20C>A rs370117635 0.00004
NM_017777.4(MKS1):c.417+17G>C rs780446139 0.00004
NM_017777.4(MKS1):c.644+10G>A rs544053540 0.00004
NM_017777.4(MKS1):c.822G>A (p.Pro274=) rs375557871 0.00004
NM_017777.4(MKS1):c.869G>A (p.Arg290Gln) rs755840522 0.00004
NM_017777.4(MKS1):c.*381A>G rs886053168 0.00003
NM_017777.4(MKS1):c.1024+10A>G rs749001732 0.00003
NM_017777.4(MKS1):c.1095+18G>A rs371273226 0.00003
NM_017777.4(MKS1):c.1175C>T (p.Pro392Leu) rs763534380 0.00003
NM_017777.4(MKS1):c.1260G>A (p.Leu420=) rs749099410 0.00003
NM_017777.4(MKS1):c.1274-5C>T rs762686385 0.00003
NM_017777.4(MKS1):c.1322C>T (p.Thr441Met) rs367625961 0.00003
NM_017777.4(MKS1):c.1387C>T (p.Arg463Trp) rs766392300 0.00003
NM_017777.4(MKS1):c.1408-15A>G rs762989365 0.00003
NM_017777.4(MKS1):c.1476T>G (p.Cys492Trp) rs137853105 0.00003
NM_017777.4(MKS1):c.1528C>T (p.Arg510Trp) rs757310695 0.00003
NM_017777.4(MKS1):c.1534G>A (p.Val512Met) rs370130538 0.00003
NM_017777.4(MKS1):c.1543C>T (p.Arg515Cys) rs775558298 0.00003
NM_017777.4(MKS1):c.1600C>T (p.Arg534Ter) rs772719574 0.00003
NM_017777.4(MKS1):c.252C>G (p.Leu84=) rs969699321 0.00003
NM_017777.4(MKS1):c.314A>C (p.Tyr105Ser) rs1440792737 0.00003
NM_017777.4(MKS1):c.322C>T (p.Arg108Cys) rs201476674 0.00003
NM_017777.4(MKS1):c.543C>T (p.Ile181=) rs1156392394 0.00003
NM_017777.4(MKS1):c.585C>T (p.His195=) rs200628275 0.00003
NM_017777.4(MKS1):c.813C>T (p.His271=) rs201961765 0.00003
NM_017777.4(MKS1):c.821C>T (p.Pro274Leu) rs770088105 0.00003
NM_017777.4(MKS1):c.835C>T (p.Arg279Trp) rs189255737 0.00003
NM_017777.4(MKS1):c.858+7G>A rs918270665 0.00003
NM_017777.4(MKS1):c.904G>A (p.Asp302Asn) rs750025608 0.00003
NM_017777.4(MKS1):c.918T>C (p.Thr306=) rs373269341 0.00003
NM_017777.4(MKS1):c.1024+1G>A rs199874059 0.00002
NM_017777.4(MKS1):c.1095G>C (p.Met365Ile) rs1440032995 0.00002
NM_017777.4(MKS1):c.1233T>C (p.Arg411=) rs201128765 0.00002
NM_017777.4(MKS1):c.1273+12T>A rs762439479 0.00002
NM_017777.4(MKS1):c.1284C>T (p.Thr428=) rs761247194 0.00002
NM_017777.4(MKS1):c.1316T>C (p.Leu439Pro) rs1325790652 0.00002
NM_017777.4(MKS1):c.1353C>T (p.Gly451=) rs764549118 0.00002
NM_017777.4(MKS1):c.1392A>T (p.Ile464=) rs1160063124 0.00002
NM_017777.4(MKS1):c.1477C>A (p.Leu493Met) rs761944624 0.00002
NM_017777.4(MKS1):c.1592C>A (p.Ala531Asp) rs751294519 0.00002
NM_017777.4(MKS1):c.1606C>T (p.Arg536Trp) rs768171144 0.00002
NM_017777.4(MKS1):c.1613G>A (p.Arg538His) rs557678962 0.00002
NM_017777.4(MKS1):c.1678T>C (p.Ter560Gln) rs1286667377 0.00002
NM_017777.4(MKS1):c.190+12G>A rs1310865080 0.00002
NM_017777.4(MKS1):c.204A>T (p.Pro68=) rs557752726 0.00002
NM_017777.4(MKS1):c.210A>G (p.Glu70=) rs778759498 0.00002
NM_017777.4(MKS1):c.279C>T (p.Tyr93=) rs187870415 0.00002
NM_017777.4(MKS1):c.428G>T (p.Arg143Ile) rs758424317 0.00002
NM_017777.4(MKS1):c.493C>T (p.Arg165Cys) rs779953982 0.00002
NM_017777.4(MKS1):c.494G>A (p.Arg165His) rs771709346 0.00002
NM_017777.4(MKS1):c.538C>T (p.Arg180Cys) rs559966703 0.00002
NM_017777.4(MKS1):c.644+9C>T rs754404940 0.00002
NM_017777.4(MKS1):c.732C>G (p.Gly244=) rs753234130 0.00002
NM_017777.4(MKS1):c.792G>A (p.Thr264=) rs1272905094 0.00002
NM_017777.4(MKS1):c.841C>T (p.Arg281Trp) rs780007842 0.00002
NM_017777.4(MKS1):c.858+19C>T rs367750788 0.00002
NM_017777.4(MKS1):c.958G>A (p.Val320Ile) rs386834053 0.00002
NM_017777.4(MKS1):c.993C>T (p.Tyr331=) rs552668070 0.00002
NM_017777.4(MKS1):c.101C>T (p.Thr34Ile) rs759465861 0.00001
NM_017777.4(MKS1):c.102A>G (p.Thr34=) rs886053171 0.00001
NM_017777.4(MKS1):c.1031C>G (p.Ser344Ter) rs760971749 0.00001
NM_017777.4(MKS1):c.1055C>T (p.Ser352Leu) rs1293609717 0.00001
NM_017777.4(MKS1):c.1063A>G (p.Thr355Ala) rs745809472 0.00001
NM_017777.4(MKS1):c.1074C>T (p.Cys358=) rs1411471923 0.00001
NM_017777.4(MKS1):c.1086C>T (p.Ser362=) rs748800331 0.00001
NM_017777.4(MKS1):c.1090G>C (p.Ala364Pro) rs769389013 0.00001
NM_017777.4(MKS1):c.1095+13A>T rs970409292 0.00001
NM_017777.4(MKS1):c.1095+19G>A rs200731008 0.00001
NM_017777.4(MKS1):c.1095+1G>A rs747740477 0.00001
NM_017777.4(MKS1):c.1095+20G>C rs927474862 0.00001
NM_017777.4(MKS1):c.1096-10C>T rs766137727 0.00001
NM_017777.4(MKS1):c.1096-1G>C rs1401015954 0.00001
NM_017777.4(MKS1):c.110A>G (p.Asn37Ser) rs587779734 0.00001
NM_017777.4(MKS1):c.1127C>T (p.Thr376Met) rs200350173 0.00001
NM_017777.4(MKS1):c.114T>C (p.Phe38=) rs375861391 0.00001
NM_017777.4(MKS1):c.1156G>T (p.Glu386Ter) rs1968640181 0.00001
NM_017777.4(MKS1):c.1205T>C (p.Leu402Pro) rs1295464168 0.00001
NM_017777.4(MKS1):c.1208C>T (p.Ser403Leu) rs773684291 0.00001
NM_017777.4(MKS1):c.1209G>A (p.Ser403=) rs770493819 0.00001
NM_017777.4(MKS1):c.1219T>C (p.Trp407Arg) rs1468389010 0.00001
NM_017777.4(MKS1):c.1227G>A (p.Arg409=) rs755065589 0.00001
NM_017777.4(MKS1):c.1268C>T (p.Thr423Ile) rs760184188 0.00001
NM_017777.4(MKS1):c.1274-6G>T rs1247721124 0.00001
NM_017777.4(MKS1):c.1279C>T (p.His427Tyr) rs141741656 0.00001
NM_017777.4(MKS1):c.1299G>A (p.Thr433=) rs749503564 0.00001
NM_017777.4(MKS1):c.1325T>G (p.Val442Gly) rs754930606 0.00001
NM_017777.4(MKS1):c.1359T>G (p.Ser453=) rs1284188693 0.00001
NM_017777.4(MKS1):c.1383T>C (p.Tyr461=) rs774475723 0.00001
NM_017777.4(MKS1):c.1408-10C>G rs1440068430 0.00001
NM_017777.4(MKS1):c.1408-36G>A rs755493387 0.00001
NM_017777.4(MKS1):c.1408-5C>T rs1237002420 0.00001
NM_017777.4(MKS1):c.1416C>T (p.Arg472=) rs1421301211 0.00001
NM_017777.4(MKS1):c.1424G>A (p.Arg475His) rs200026560 0.00001
NM_017777.4(MKS1):c.1465C>T (p.Arg489Cys) rs1003579700 0.00001
NM_017777.4(MKS1):c.1466G>A (p.Arg489His) rs916562674 0.00001
NM_017777.4(MKS1):c.1479G>A (p.Leu493=) rs376833168 0.00001
NM_017777.4(MKS1):c.1490+13G>A rs1261119858 0.00001
NM_017777.4(MKS1):c.1497del (p.Phe499fs) rs780161503 0.00001
NM_017777.4(MKS1):c.1525A>G (p.Met509Val) rs778890248 0.00001
NM_017777.4(MKS1):c.1529G>A (p.Arg510Gln) rs373843986 0.00001
NM_017777.4(MKS1):c.1589-12C>T rs377376912 0.00001
NM_017777.4(MKS1):c.1589-3C>T rs752901746 0.00001
NM_017777.4(MKS1):c.1589-7C>T rs756418206 0.00001
NM_017777.4(MKS1):c.1590G>T (p.Glu530Asp) rs767250536 0.00001
NM_017777.4(MKS1):c.1627C>T (p.Arg543Trp) rs748406509 0.00001
NM_017777.4(MKS1):c.1629G>A (p.Arg543=) rs781530535 0.00001
NM_017777.4(MKS1):c.1641G>A (p.Pro547=) rs758334200 0.00001
NM_017777.4(MKS1):c.1657C>T (p.Pro553Ser) rs915370426 0.00001
NM_017777.4(MKS1):c.1668C>T (p.Thr556=) rs553314050 0.00001
NM_017777.4(MKS1):c.1674C>T (p.Val558=) rs376925280 0.00001
NM_017777.4(MKS1):c.180G>A (p.Gln60=) rs1008086525 0.00001
NM_017777.4(MKS1):c.191-1G>A rs201362733 0.00001
NM_017777.4(MKS1):c.200G>A (p.Arg67His) rs780293222 0.00001
NM_017777.4(MKS1):c.214G>A (p.Glu72Lys) rs753620277 0.00001
NM_017777.4(MKS1):c.227T>C (p.Ile76Thr) rs1412560835 0.00001
NM_017777.4(MKS1):c.243G>A (p.Gln81=) rs1488924614 0.00001
NM_017777.4(MKS1):c.262-10G>T rs772852025 0.00001
NM_017777.4(MKS1):c.268G>A (p.Val90Ile) rs1235520151 0.00001
NM_017777.4(MKS1):c.308T>C (p.Leu103Ser) rs201574278 0.00001
NM_017777.4(MKS1):c.313T>C (p.Tyr105His) rs778921113 0.00001
NM_017777.4(MKS1):c.331A>C (p.Ile111Leu) rs886044605 0.00001
NM_017777.4(MKS1):c.367C>T (p.Arg123Ter) rs762482919 0.00001
NM_017777.4(MKS1):c.370C>T (p.Arg124Ter) rs990955357 0.00001
NM_017777.4(MKS1):c.371G>A (p.Arg124Gln) rs765026950 0.00001
NM_017777.4(MKS1):c.399A>G (p.Arg133=) rs746378310 0.00001
NM_017777.4(MKS1):c.440C>T (p.Ala147Val) rs1376838481 0.00001
NM_017777.4(MKS1):c.447C>T (p.Ser149=) rs750376903 0.00001
NM_017777.4(MKS1):c.452T>C (p.Val151Ala) rs778584579 0.00001
NM_017777.4(MKS1):c.470A>G (p.Glu157Gly) rs766648988 0.00001
NM_017777.4(MKS1):c.472C>T (p.Arg158Ter) rs386834050 0.00001
NM_017777.4(MKS1):c.497G>A (p.Arg166Gln) rs1050543850 0.00001
NM_017777.4(MKS1):c.508C>T (p.Arg170Ter) rs756853299 0.00001
NM_017777.4(MKS1):c.509G>A (p.Arg170Gln) rs369388608 0.00001
NM_017777.4(MKS1):c.515+1G>A rs201933838 0.00001
NM_017777.4(MKS1):c.515+9G>A rs752279060 0.00001
NM_017777.4(MKS1):c.516-5C>T rs1223795320 0.00001
NM_017777.4(MKS1):c.516-7C>A rs755511133 0.00001
NM_017777.4(MKS1):c.522C>T (p.Gly174=) rs780657802 0.00001
NM_017777.4(MKS1):c.523G>A (p.Gly175Ser) rs754601373 0.00001
NM_017777.4(MKS1):c.524G>T (p.Gly175Val) rs527350238 0.00001
NM_017777.4(MKS1):c.548C>G (p.Thr183Ser) rs775805558 0.00001
NM_017777.4(MKS1):c.580A>G (p.Asn194Asp) rs759802849 0.00001
NM_017777.4(MKS1):c.586G>A (p.Val196Ile) rs140677541 0.00001
NM_017777.4(MKS1):c.628C>T (p.Leu210=) rs1451406283 0.00001
NM_017777.4(MKS1):c.634C>A (p.Pro212Thr) rs747659750 0.00001
NM_017777.4(MKS1):c.638A>G (p.Tyr213Cys) rs754689401 0.00001
NM_017777.4(MKS1):c.639T>C (p.Tyr213=) rs746647549 0.00001
NM_017777.4(MKS1):c.672C>T (p.Val224=) rs200531517 0.00001
NM_017777.4(MKS1):c.687G>A (p.Lys229=) rs1309433422 0.00001
NM_017777.4(MKS1):c.713T>G (p.Val238Gly) rs376785849 0.00001
NM_017777.4(MKS1):c.728C>T (p.Thr243Met) rs749668169 0.00001
NM_017777.4(MKS1):c.791C>T (p.Thr264Met) rs561482424 0.00001
NM_017777.4(MKS1):c.81-1G>A rs12942386 0.00001
NM_017777.4(MKS1):c.81-3C>A rs1204016081 0.00001
NM_017777.4(MKS1):c.836G>A (p.Arg279Gln) rs747504986 0.00001
NM_017777.4(MKS1):c.840A>C (p.Glu280Asp) rs1406421081 0.00001
NM_017777.4(MKS1):c.842G>C (p.Arg281Pro) rs794727927 0.00001
NM_017777.4(MKS1):c.844C>T (p.Arg282Ter) rs797045706 0.00001
NM_017777.4(MKS1):c.854A>G (p.Lys285Arg) rs1350256761 0.00001
NM_017777.4(MKS1):c.856_857del (p.Asp286fs) rs1968963177 0.00001
NM_017777.4(MKS1):c.870G>A (p.Arg290=) rs769489826 0.00001
NM_017777.4(MKS1):c.873C>G (p.His291Gln) rs1968929550 0.00001
NM_017777.4(MKS1):c.896T>C (p.Val299Ala) rs765793774 0.00001
NM_017777.4(MKS1):c.909T>C (p.Phe303=) rs764581050 0.00001
NM_017777.4(MKS1):c.916-10T>C rs750119538 0.00001
NM_017777.4(MKS1):c.957C>T (p.Val319=) rs770067106 0.00001
NM_017777.4(MKS1):c.958+7G>C rs1185269829 0.00001
NM_017777.4(MKS1):c.959-5C>T rs765242131 0.00001
NM_017777.4(MKS1):c.959-7C>T rs773337994 0.00001
NM_017777.4(MKS1):c.959-8T>G rs763444295 0.00001
NM_017777.4(MKS1):c.978G>A (p.Glu326=) rs1246215697 0.00001
NC_000017.10:g.(?_56289719)_(56294117_?)del
NC_000017.10:g.(?_56293914)_(56294114_?)del
NC_000017.10:g.(?_56295969)_(56296506_?)del
NC_000017.10:g.(?_56295971)_(56296882_?)del
NC_000017.10:g.(?_56296502)_(56296882_?)del
NC_000017.11:g.(?_58206283)_(58206581_?)del
NM_017777.4(MKS1):c.1007T>C (p.Val336Ala) rs772205041
NM_017777.4(MKS1):c.1009G>T (p.Glu337Ter)
NM_017777.4(MKS1):c.1012T>C (p.Leu338=) rs1968819648
NM_017777.4(MKS1):c.1023T>C (p.Ala341=) rs2143774558
NM_017777.4(MKS1):c.1024+16A>T
NM_017777.4(MKS1):c.1024+1G>T
NM_017777.4(MKS1):c.1024+8A>G
NM_017777.4(MKS1):c.1024C>T (p.His342Tyr) rs1357107885
NM_017777.4(MKS1):c.1025-18T>C
NM_017777.4(MKS1):c.1025-20A>G
NM_017777.4(MKS1):c.1025-2A>C rs794727070
NM_017777.4(MKS1):c.1025-2A>G
NM_017777.4(MKS1):c.1026C>T (p.His342=)
NM_017777.4(MKS1):c.1028G>A (p.Trp343Ter)
NM_017777.4(MKS1):c.1032_1035del (p.Ser345fs)
NM_017777.4(MKS1):c.1036C>T (p.Pro346Ser) rs538164532
NM_017777.4(MKS1):c.1041A>G (p.Ala347=)
NM_017777.4(MKS1):c.1045C>T (p.Gln349Ter)
NM_017777.4(MKS1):c.1047G>C (p.Gln349His)
NM_017777.4(MKS1):c.1048C>G (p.Gln350Glu) rs386834041
NM_017777.4(MKS1):c.1048C>T (p.Gln350Ter) rs386834041
NM_017777.4(MKS1):c.1050G>A (p.Gln350=)
NM_017777.4(MKS1):c.1051C>G (p.Leu351Val)
NM_017777.4(MKS1):c.1058G>A (p.Gly353Glu)
NM_017777.4(MKS1):c.1058del (p.Gly353fs)
NM_017777.4(MKS1):c.1062A>G (p.Val354=) rs2143757521
NM_017777.4(MKS1):c.1065A>G (p.Thr355=) rs2143757456
NM_017777.4(MKS1):c.1066C>T (p.Gln356Ter) rs786205508
NM_017777.4(MKS1):c.1071C>T (p.Thr357=) rs939716801
NM_017777.4(MKS1):c.1071del (p.Cys358fs) rs762377424
NM_017777.4(MKS1):c.1073G>T (p.Cys358Phe)
NM_017777.4(MKS1):c.1074C>A (p.Cys358Ter)
NM_017777.4(MKS1):c.1076CCA[1] (p.Thr360del) rs1555598065
NM_017777.4(MKS1):c.1077C>T (p.Thr359=) rs1968672310
NM_017777.4(MKS1):c.1078A>G (p.Thr360Ala)
NM_017777.4(MKS1):c.1085C>G (p.Ser362Cys)
NM_017777.4(MKS1):c.1090G>A (p.Ala364Thr)
NM_017777.4(MKS1):c.1090dup (p.Ala364fs)
NM_017777.4(MKS1):c.1092A>C (p.Ala364=) rs1379453194
NM_017777.4(MKS1):c.1094T>C (p.Met365Thr)
NM_017777.4(MKS1):c.1095+10A>G
NM_017777.4(MKS1):c.1095+14G>A
NM_017777.4(MKS1):c.1095+14G>T rs2143756719
NM_017777.4(MKS1):c.1095+17C>T
NM_017777.4(MKS1):c.1095+2T>C rs2143756871
NM_017777.4(MKS1):c.1096-10C>A
NM_017777.4(MKS1):c.1096-10C>G rs766137727
NM_017777.4(MKS1):c.1096-19A>C
NM_017777.4(MKS1):c.1096-20T>A
NM_017777.4(MKS1):c.1096-20del
NM_017777.4(MKS1):c.1096-4A>G rs1320626045
NM_017777.4(MKS1):c.1096-5del rs2143753890
NM_017777.4(MKS1):c.1096-7T>C rs2143753917
NM_017777.4(MKS1):c.1096-9T>C rs2143753947
NM_017777.4(MKS1):c.1096G>T (p.Asp366Tyr) rs2143753811
NM_017777.4(MKS1):c.1098C>T (p.Asp366=) rs1374437999
NM_017777.4(MKS1):c.1113C>T (p.Phe371=)
NM_017777.4(MKS1):c.1115C>T (p.Ser372Phe) rs1433377596
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del) rs754279998
NM_017777.4(MKS1):c.1116C>T (p.Ser372=)
NM_017777.4(MKS1):c.111dup (p.Phe38fs)
NM_017777.4(MKS1):c.1121C>G (p.Pro374Arg) rs773157492
NM_017777.4(MKS1):c.1121C>T (p.Pro374Leu) rs773157492
NM_017777.4(MKS1):c.1122A>G (p.Pro374=)
NM_017777.4(MKS1):c.1126dup (p.Thr376fs) rs2143753386
NM_017777.4(MKS1):c.1128G>T (p.Thr376=) rs369141016
NM_017777.4(MKS1):c.1137C>T (p.Ala379=)
NM_017777.4(MKS1):c.1138T>G (p.Phe380Val)
NM_017777.4(MKS1):c.1140C>T (p.Phe380=)
NM_017777.4(MKS1):c.1149T>C (p.His383=)
NM_017777.4(MKS1):c.114dup (p.Leu39fs)
NM_017777.4(MKS1):c.1158A>G (p.Glu386=) rs797045705
NM_017777.4(MKS1):c.1158del (p.Glu386fs)
NM_017777.4(MKS1):c.1163C>A (p.Ser388Tyr)
NM_017777.4(MKS1):c.1165+18T>A
NM_017777.4(MKS1):c.1165+7del
NM_017777.4(MKS1):c.1165+9C>T
NM_017777.4(MKS1):c.1166-11C>T
NM_017777.4(MKS1):c.1166-16C>G
NM_017777.4(MKS1):c.1166-1G>C rs776174898
NM_017777.4(MKS1):c.1166-20G>A
NM_017777.4(MKS1):c.1166-2A>G rs1488635637
NM_017777.4(MKS1):c.1166-5C>T
NM_017777.4(MKS1):c.1167T>C (p.Asp389=)
NM_017777.4(MKS1):c.1176G>C (p.Pro392=) rs775169308
NM_017777.4(MKS1):c.1176G>T (p.Pro392=) rs775169308
NM_017777.4(MKS1):c.1185T>C (p.Pro395=)
NM_017777.4(MKS1):c.1191C>G (p.Leu397=)
NM_017777.4(MKS1):c.1192T>C (p.Tyr398His) rs1968629952
NM_017777.4(MKS1):c.1196G>C (p.Cys399Ser) rs144764478
NM_017777.4(MKS1):c.1196G>T (p.Cys399Phe) rs144764478
NM_017777.4(MKS1):c.119_126dup (p.Pro43fs)
NM_017777.4(MKS1):c.1203C>A (p.Val401=)
NM_017777.4(MKS1):c.1204_1208dup (p.Leu404fs) rs2143751393
NM_017777.4(MKS1):c.1206C>T (p.Leu402=) rs202040080
NM_017777.4(MKS1):c.1210C>T (p.Leu404=)
NM_017777.4(MKS1):c.1213G>A (p.Asp405Asn) rs372554696
NM_017777.4(MKS1):c.1222C>T (p.Gln408Ter) rs781423785
NM_017777.4(MKS1):c.1224G>A (p.Gln408=) rs1216137211
NM_017777.4(MKS1):c.1229A>T (p.Tyr410Phe)
NM_017777.4(MKS1):c.1231C>T (p.Arg411Cys)
NM_017777.4(MKS1):c.1232G>A (p.Arg411His) rs200679238
NM_017777.4(MKS1):c.1232G>C (p.Arg411Pro) rs200679238
NM_017777.4(MKS1):c.1240G>A (p.Gly414Ser) rs1178459205
NM_017777.4(MKS1):c.1244A>G (p.Tyr415Cys)
NM_017777.4(MKS1):c.1245T>C (p.Tyr415=) rs1968622013
NM_017777.4(MKS1):c.124C>T (p.Gln42Ter) rs1969405671
NM_017777.4(MKS1):c.1253T>C (p.Val418Ala) rs886053169
NM_017777.4(MKS1):c.1254G>A (p.Val418=) rs2143750611
NM_017777.4(MKS1):c.1261C>G (p.Pro421Ala)
NM_017777.4(MKS1):c.1265C>T (p.Ala422Val)
NM_017777.4(MKS1):c.1267A>G (p.Thr423Ala)
NM_017777.4(MKS1):c.1273+10C>T
NM_017777.4(MKS1):c.1273+13C>A
NM_017777.4(MKS1):c.1273+17G>A
NM_017777.4(MKS1):c.1273+17del rs2143750048
NM_017777.4(MKS1):c.1273+18C>A
NM_017777.4(MKS1):c.1273+1G>C rs933577333
NM_017777.4(MKS1):c.1273+4A>G rs948397956
NM_017777.4(MKS1):c.1273+7G>T rs569463908
NM_017777.4(MKS1):c.1274-10C>G rs751088795
NM_017777.4(MKS1):c.1274-13T>A
NM_017777.4(MKS1):c.1274-14C>T
NM_017777.4(MKS1):c.1274-16C>T
NM_017777.4(MKS1):c.1274-18T>C
NM_017777.4(MKS1):c.1274-2A>C
NM_017777.4(MKS1):c.1274-4G>T rs377033778
NM_017777.4(MKS1):c.1274-7T>C
NM_017777.4(MKS1):c.1274-9dup
NM_017777.4(MKS1):c.1281C>T (p.His427=) rs2143744776
NM_017777.4(MKS1):c.1282A>T (p.Thr428Ser)
NM_017777.4(MKS1):c.1284C>G (p.Thr428=)
NM_017777.4(MKS1):c.1288_1314del (p.Thr430_Glu438del) rs1555597302
NM_017777.4(MKS1):c.128C>G (p.Pro43Arg) rs1311306088
NM_017777.4(MKS1):c.1295C>A (p.Ser432Tyr)
NM_017777.4(MKS1):c.1299G>T (p.Thr433=) rs749503564
NM_017777.4(MKS1):c.1301G>A (p.Trp434Ter) rs2143744476
NM_017777.4(MKS1):c.1305A>G (p.Arg435=) rs1007814770
NM_017777.4(MKS1):c.1323G>A (p.Thr441=) rs781038098
NM_017777.4(MKS1):c.1323G>C (p.Thr441=)
NM_017777.4(MKS1):c.1326G>A (p.Val442=) rs569499621
NM_017777.4(MKS1):c.1331_1345del (p.Glu444_Phe449delinsVal) rs1555597266
NM_017777.4(MKS1):c.1341G>A (p.Arg447=) rs1294257326
NM_017777.4(MKS1):c.1342T>G (p.Phe448Val)
NM_017777.4(MKS1):c.1353C>A (p.Gly451=) rs764549118
NM_017777.4(MKS1):c.1353C>G (p.Gly451=)
NM_017777.4(MKS1):c.1354G>A (p.Gly452Ser)
NM_017777.4(MKS1):c.1355G>A (p.Gly452Asp) rs2143743650
NM_017777.4(MKS1):c.135C>G (p.Ala45=)
NM_017777.4(MKS1):c.135C>T (p.Ala45=)
NM_017777.4(MKS1):c.1365del (p.Glu455fs)
NM_017777.4(MKS1):c.1369G>C (p.Glu457Gln) rs1968562983
NM_017777.4(MKS1):c.136G>T (p.Glu46Ter) rs183617764
NM_017777.4(MKS1):c.1382A>G (p.Tyr461Cys) rs730882120
NM_017777.4(MKS1):c.1383T>A (p.Tyr461Ter)
NM_017777.4(MKS1):c.1387C>A (p.Arg463=)
NM_017777.4(MKS1):c.1387C>G (p.Arg463Gly) rs766392300
NM_017777.4(MKS1):c.1389G>T (p.Arg463=) rs773269657
NM_017777.4(MKS1):c.1394del (p.Pro465fs) rs865870355
NM_017777.4(MKS1):c.1397G>C (p.Gly466Ala)
NM_017777.4(MKS1):c.1399_1407+4del rs2143742869
NM_017777.4(MKS1):c.1407+10G>A
NM_017777.4(MKS1):c.1407+19G>A
NM_017777.4(MKS1):c.1407+1G>A rs1567795088
NM_017777.4(MKS1):c.1407+20_1407+25del
NM_017777.4(MKS1):c.1407+2del rs386834042
NM_017777.4(MKS1):c.1407+3_1407+5delinsAAT rs1555597194
NM_017777.4(MKS1):c.1407+66G>A
NM_017777.4(MKS1):c.1407+9T>A rs2143742823
NM_017777.4(MKS1):c.1408-13T>C rs2143738734
NM_017777.4(MKS1):c.1408-14A>G
NM_017777.4(MKS1):c.1408-18C>A rs2143738791
NM_017777.4(MKS1):c.1408-1dup rs762668200
NM_017777.4(MKS1):c.1408-20G>C
NM_017777.4(MKS1):c.1408-21T>G
NM_017777.4(MKS1):c.1408-23G>A
NM_017777.4(MKS1):c.1408-28C>G
NM_017777.4(MKS1):c.1408-29C>T rs2143738957
NM_017777.4(MKS1):c.1408-2A>G rs1555596943
NM_017777.4(MKS1):c.1408-2_1408-1del
NM_017777.4(MKS1):c.1408-34_1408-6del rs386834043
NM_017777.4(MKS1):c.1408-35C>T rs2143738994
NM_017777.4(MKS1):c.1408-9A>G
NM_017777.4(MKS1):c.1410G>A (p.Gly470=) rs2143738492
NM_017777.4(MKS1):c.1411_1412delinsT (p.Glu471fs)
NM_017777.4(MKS1):c.1413A>G (p.Glu471=) rs1597975817
NM_017777.4(MKS1):c.1414C>G (p.Arg472Gly) rs181513926
NM_017777.4(MKS1):c.1416C>G (p.Arg472=)
NM_017777.4(MKS1):c.141C>A (p.Leu47=) rs1598006779
NM_017777.4(MKS1):c.141C>T (p.Leu47=) rs1598006779
NM_017777.4(MKS1):c.1422C>T (p.Ser474=) rs1597975737
NM_017777.4(MKS1):c.1423C>T (p.Arg475Cys)
NM_017777.4(MKS1):c.1424G>T (p.Arg475Leu)
NM_017777.4(MKS1):c.1425C>A (p.Arg475=) rs2143738206
NM_017777.4(MKS1):c.1434C>T (p.Leu478=) rs1463944569
NM_017777.4(MKS1):c.1434_1462del (p.Arg479fs) rs1555596845
NM_017777.4(MKS1):c.1436G>T (p.Arg479Leu)
NM_017777.4(MKS1):c.1446C>T (p.Thr482=) rs2143737944
NM_017777.4(MKS1):c.1447A>C (p.Thr483Pro)
NM_017777.4(MKS1):c.1449A>G (p.Thr483=) rs2143737889
NM_017777.4(MKS1):c.144G>C (p.Gly48=) rs2143838897
NM_017777.4(MKS1):c.1450G>T (p.Gly484Cys) rs1473936553
NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs) rs386834044
NM_017777.4(MKS1):c.1458C>T (p.Val486=)
NM_017777.4(MKS1):c.1460C>T (p.Thr487Ile) rs2143737729
NM_017777.4(MKS1):c.1468T>G (p.Leu490Val) rs2143737631
NM_017777.4(MKS1):c.1470G>A (p.Leu490=) rs1968517645
NM_017777.4(MKS1):c.1471C>T (p.His491Tyr)
NM_017777.4(MKS1):c.1476T>C (p.Cys492=)
NM_017777.4(MKS1):c.1478T>C (p.Leu493Pro)
NM_017777.4(MKS1):c.147G>A (p.Lys49=) rs2143838854
NM_017777.4(MKS1):c.1480C>T (p.Gln494Ter)
NM_017777.4(MKS1):c.1483C>T (p.Gln495Ter) rs2143737457
NM_017777.4(MKS1):c.1489_1490+18delinsGCTTGCACTGTCTGCAGCAG
NM_017777.4(MKS1):c.148G>A (p.Asp50Asn)
NM_017777.4(MKS1):c.1490+15C>A
NM_017777.4(MKS1):c.1490+17T>A
NM_017777.4(MKS1):c.1490+18C>G
NM_017777.4(MKS1):c.1490+1G>A rs2143737350
NM_017777.4(MKS1):c.1490+1G>T
NM_017777.4(MKS1):c.1490+8A>T
NM_017777.4(MKS1):c.1490+9C>T rs1555596804
NM_017777.4(MKS1):c.1490G>A (p.Arg497Lys) rs386834045
NM_017777.4(MKS1):c.1491-10C>T
NM_017777.4(MKS1):c.1491-13G>A rs2143736475
NM_017777.4(MKS1):c.1491-15C>G
NM_017777.4(MKS1):c.1491-17G>T
NM_017777.4(MKS1):c.1491-20T>C
NM_017777.4(MKS1):c.1491-4G>A rs1555596758
NM_017777.4(MKS1):c.1491-4G>T rs1555596758
NM_017777.4(MKS1):c.1491-7C>T
NM_017777.4(MKS1):c.1491-8C>A
NM_017777.4(MKS1):c.1497C>T (p.Phe499=)
NM_017777.4(MKS1):c.149del (p.Asp50fs)
NM_017777.4(MKS1):c.1505C>G (p.Ser502Trp) rs758838271
NM_017777.4(MKS1):c.1505C>T (p.Ser502Leu) rs758838271
NM_017777.4(MKS1):c.1507A>G (p.Ser503Gly) rs1328968692
NM_017777.4(MKS1):c.1513C>T (p.Leu505Phe) rs1968506619
NM_017777.4(MKS1):c.1515T>A (p.Leu505=)
NM_017777.4(MKS1):c.1522_1638del117 (p.Arg508_Leu546del)
NM_017777.4(MKS1):c.1528C>A (p.Arg510=)
NM_017777.4(MKS1):c.1530G>A (p.Arg510=)
NM_017777.4(MKS1):c.1531_1534del (p.Ser511fs) rs1555596710
NM_017777.4(MKS1):c.1532_1533insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGAAAAGGATGCGGAG (p.Ser511fs)
NM_017777.4(MKS1):c.1535T>C (p.Val512Ala) rs1567794194
NM_017777.4(MKS1):c.1538T>C (p.Leu513Ser) rs1968503638
NM_017777.4(MKS1):c.1544G>A (p.Arg515His) rs200658872
NM_017777.4(MKS1):c.1544G>T (p.Arg515Leu) rs200658872
NM_017777.4(MKS1):c.1557C>T (p.Phe519=) rs1433060710
NM_017777.4(MKS1):c.1560C>T (p.Ser520=) rs2143735433
NM_017777.4(MKS1):c.1567A>G (p.Ser523Gly) rs1968502243
NM_017777.4(MKS1):c.1575T>A (p.Ile525=)
NM_017777.4(MKS1):c.1578C>T (p.His526=)
NM_017777.4(MKS1):c.1588+10del
NM_017777.4(MKS1):c.1588+12C>G rs762501967
NM_017777.4(MKS1):c.1588+15C>G
NM_017777.4(MKS1):c.1588+16C>A
NM_017777.4(MKS1):c.1588+16C>G
NM_017777.4(MKS1):c.1588+20T>C rs2143734918
NM_017777.4(MKS1):c.1588+3A>G
NM_017777.4(MKS1):c.1588+7C>A
NM_017777.4(MKS1):c.1588+7C>T
NM_017777.4(MKS1):c.1589-10T>A rs2143734265
NM_017777.4(MKS1):c.1589-11T>C
NM_017777.4(MKS1):c.1589-15C>G
NM_017777.4(MKS1):c.1589-19A>G
NM_017777.4(MKS1):c.1589-19A>T
NM_017777.4(MKS1):c.1589-2A>G
NM_017777.4(MKS1):c.1589-2A>T rs863225207
NM_017777.4(MKS1):c.1590G>A (p.Glu530=)
NM_017777.4(MKS1):c.1598G>A (p.Arg533His) rs779093781
NM_017777.4(MKS1):c.1598G>T (p.Arg533Leu) rs779093781
NM_017777.4(MKS1):c.159C>T (p.Asp53=) rs907068935
NM_017777.4(MKS1):c.1600C>A (p.Arg534=) rs772719574
NM_017777.4(MKS1):c.1605C>T (p.Ala535=) rs35493987
NM_017777.4(MKS1):c.1608G>A (p.Arg536=) rs2143733718
NM_017777.4(MKS1):c.1610G>A (p.Arg537His) rs771624307
NM_017777.4(MKS1):c.1612C>T (p.Arg538Cys)
NM_017777.4(MKS1):c.1613G>C (p.Arg538Pro)
NM_017777.4(MKS1):c.1613G>T (p.Arg538Leu) rs557678962
NM_017777.4(MKS1):c.1614del (p.Met539fs) rs1555596555
NM_017777.4(MKS1):c.1617G>T (p.Met539Ile)
NM_017777.4(MKS1):c.1619del (p.Gln540fs)
NM_017777.4(MKS1):c.161T>A (p.Leu54Ter) rs2143838681
NM_017777.4(MKS1):c.1621G>T (p.Glu541Ter) rs1555596538
NM_017777.4(MKS1):c.162G>C (p.Leu54Phe)
NM_017777.4(MKS1):c.1630G>A (p.Glu544Lys)
NM_017777.4(MKS1):c.1635C>A (p.Ser545Arg)
NM_017777.4(MKS1):c.1635C>G (p.Ser545Arg)
NM_017777.4(MKS1):c.165C>A (p.Ala55=)
NM_017777.4(MKS1):c.1671G>A (p.Leu557=) rs11548967
NM_017777.4(MKS1):c.1671G>T (p.Leu557=) rs11548967
NM_017777.4(MKS1):c.1677C>T (p.Ser559=) rs921675582
NM_017777.4(MKS1):c.177T>G (p.Pro59=) rs2143838526
NM_017777.4(MKS1):c.184_190del (p.Thr62fs) rs386834046
NM_017777.4(MKS1):c.190+11C>G
NM_017777.4(MKS1):c.190+11C>T rs529293609
NM_017777.4(MKS1):c.190+15G>T
NM_017777.4(MKS1):c.190+1G>A
NM_017777.4(MKS1):c.190+20T>C
NM_017777.4(MKS1):c.190+8dup rs766767996
NM_017777.4(MKS1):c.191-10G>T rs756533204
NM_017777.4(MKS1):c.191-12T>C
NM_017777.4(MKS1):c.191-17C>T
NM_017777.4(MKS1):c.191-19C>G
NM_017777.4(MKS1):c.191-9T>C rs2143823943
NM_017777.4(MKS1):c.193G>C (p.Gly65Arg)
NM_017777.4(MKS1):c.201C>G (p.Arg67=) rs2143823724
NM_017777.4(MKS1):c.203del (p.Pro68fs)
NM_017777.4(MKS1):c.204A>G (p.Pro68=)
NM_017777.4(MKS1):c.205G>T (p.Glu69Ter)
NM_017777.4(MKS1):c.207G>A (p.Glu69=) rs1969242335
NM_017777.4(MKS1):c.213C>T (p.Asp71=) rs142813109
NM_017777.4(MKS1):c.216A>C (p.Glu72Asp) rs2143823461
NM_017777.4(MKS1):c.219G>A (p.Glu73=)
NM_017777.4(MKS1):c.222G>A (p.Glu74=)
NM_017777.4(MKS1):c.225G>A (p.Glu75=) rs775351056
NM_017777.4(MKS1):c.225G>T (p.Glu75Asp) rs775351056
NM_017777.4(MKS1):c.229G>A (p.Val77Met) rs1198645467
NM_017777.4(MKS1):c.233T>G (p.Ile78Ser) rs786204222
NM_017777.4(MKS1):c.237G>A (p.Gly79=) rs2143823165
NM_017777.4(MKS1):c.240G>A (p.Trp80Ter)
NM_017777.4(MKS1):c.241C>T (p.Gln81Ter)
NM_017777.4(MKS1):c.252C>T (p.Leu84=) rs969699321
NM_017777.4(MKS1):c.261+10T>C rs781466261
NM_017777.4(MKS1):c.261+10T>G rs781466261
NM_017777.4(MKS1):c.261+15C>G
NM_017777.4(MKS1):c.261+16_261+17del
NM_017777.4(MKS1):c.261+2T>A rs886039803
NM_017777.4(MKS1):c.262-10G>A rs772852025
NM_017777.4(MKS1):c.262-10G>C
NM_017777.4(MKS1):c.262-12T>C
NM_017777.4(MKS1):c.262-13A>G
NM_017777.4(MKS1):c.262-16C>T
NM_017777.4(MKS1):c.262-19T>C
NM_017777.4(MKS1):c.262-7_262-6del rs2143820463
NM_017777.4(MKS1):c.263T>C (p.Phe88Ser) rs886053170
NM_017777.4(MKS1):c.276G>A (p.Leu92=)
NM_017777.4(MKS1):c.282A>G (p.Gln94=)
NM_017777.4(MKS1):c.285T>C (p.Asn95=)
NM_017777.4(MKS1):c.291A>G (p.Thr97=) rs1597999676
NM_017777.4(MKS1):c.297T>A (p.Cys99Ter)
NM_017777.4(MKS1):c.301_302dup (p.Ser101fs)
NM_017777.4(MKS1):c.318G>A (p.Gln106=)
NM_017777.4(MKS1):c.324T>C (p.Arg108=) rs1007384458
NM_017777.4(MKS1):c.351G>C (p.Ser117=) rs370781583
NM_017777.4(MKS1):c.354T>G (p.Gly118=) rs1969193189
NM_017777.4(MKS1):c.367dup (p.Arg123fs) rs775043799
NM_017777.4(MKS1):c.369A>G (p.Arg123=) rs997559994
NM_017777.4(MKS1):c.381C>G (p.Thr127=)
NM_017777.4(MKS1):c.384C>A (p.Tyr128Ter)
NM_017777.4(MKS1):c.385A>T (p.Thr129Ser)
NM_017777.4(MKS1):c.390C>T (p.Asp130=)
NM_017777.4(MKS1):c.392_393del (p.Asp130_Ser131insTer) rs386834047
NM_017777.4(MKS1):c.396T>G (p.Asp132Glu)
NM_017777.4(MKS1):c.398G>C (p.Arg133Thr) rs2143819004
NM_017777.4(MKS1):c.400T>C (p.Tyr134His) rs1969185710
NM_017777.4(MKS1):c.405C>A (p.Thr135=)
NM_017777.4(MKS1):c.407A>C (p.Asn136Thr) rs1969184476
NM_017777.4(MKS1):c.411G>A (p.Leu137=)
NM_017777.4(MKS1):c.414G>T (p.Glu138Asp)
NM_017777.4(MKS1):c.417+10T>C rs780977789
NM_017777.4(MKS1):c.417+13C>T
NM_017777.4(MKS1):c.417+15A>G
NM_017777.4(MKS1):c.417+1G>A rs756368560
NM_017777.4(MKS1):c.417+1G>T rs756368560
NM_017777.4(MKS1):c.418-3C>T
NM_017777.4(MKS1):c.418-4C>G rs2143809915
NM_017777.4(MKS1):c.418-79G>T
NM_017777.4(MKS1):c.424C>T (p.Gln142Ter) rs386834049
NM_017777.4(MKS1):c.427A>C (p.Arg143=)
NM_017777.4(MKS1):c.435del (p.Thr146fs)
NM_017777.4(MKS1):c.438T>C (p.Thr146=)
NM_017777.4(MKS1):c.442G>C (p.Ala148Pro) rs1969097203
NM_017777.4(MKS1):c.449A>T (p.Glu150Val)
NM_017777.4(MKS1):c.453G>A (p.Val151=)
NM_017777.4(MKS1):c.453_454delinsAA (p.Pro152Thr) rs2143809459
NM_017777.4(MKS1):c.457T>G (p.Ser153Ala) rs2143809333
NM_017777.4(MKS1):c.458C>A (p.Ser153Ter) rs903778224
NM_017777.4(MKS1):c.468C>G (p.Val156=) rs199684837
NM_017777.4(MKS1):c.469G>T (p.Glu157Ter) rs200970148
NM_017777.4(MKS1):c.473G>A (p.Arg158Gln) rs373471917
NM_017777.4(MKS1):c.478G>A (p.Ala160Thr)
NM_017777.4(MKS1):c.483T>C (p.Asn161=) rs1472188901
NM_017777.4(MKS1):c.490C>T (p.Arg164Cys)
NM_017777.4(MKS1):c.492T>A (p.Arg164=) rs2143808753
NM_017777.4(MKS1):c.492_497del (p.Arg165_Arg166del)
NM_017777.4(MKS1):c.493_494insTTC (p.Arg164_Arg165insLeu) rs2143808702
NM_017777.4(MKS1):c.498G>A (p.Arg166=) rs778956664
NM_017777.4(MKS1):c.499C>T (p.Gln167Ter) rs1215189491
NM_017777.4(MKS1):c.513G>C (p.Gly171=) rs2143808375
NM_017777.4(MKS1):c.513G>T (p.Gly171=)
NM_017777.4(MKS1):c.515+13A>G
NM_017777.4(MKS1):c.515+13A>T
NM_017777.4(MKS1):c.515+15G>T
NM_017777.4(MKS1):c.515+19T>C
NM_017777.4(MKS1):c.515+2T>C rs1376664664
NM_017777.4(MKS1):c.515+2T>G rs1376664664
NM_017777.4(MKS1):c.515+9G>C rs752279060
NM_017777.4(MKS1):c.515+9G>T
NM_017777.4(MKS1):c.516-2A>G rs2143805609
NM_017777.4(MKS1):c.516-5C>A
NM_017777.4(MKS1):c.516-9G>A rs1969068781
NM_017777.4(MKS1):c.517G>T (p.Glu173Ter)
NM_017777.4(MKS1):c.519G>A (p.Glu173=) rs901476301
NM_017777.4(MKS1):c.521G>A (p.Gly174Asp) rs2143805491
NM_017777.4(MKS1):c.522C>A (p.Gly174=)
NM_017777.4(MKS1):c.528C>T (p.Ile176=) rs2143805374
NM_017777.4(MKS1):c.528_644+12del
NM_017777.4(MKS1):c.537_538del (p.Arg180fs)
NM_017777.4(MKS1):c.539G>C (p.Arg180Pro)
NM_017777.4(MKS1):c.546C>T (p.Val182=) rs1969065058
NM_017777.4(MKS1):c.548C>T (p.Thr183Ile) rs775805558
NM_017777.4(MKS1):c.555G>A (p.Glu185=) rs2143804915
NM_017777.4(MKS1):c.564A>G (p.Glu188=) rs2143804818
NM_017777.4(MKS1):c.564_565insTTCT (p.Glu189delinsPheTer) rs1969063562
NM_017777.4(MKS1):c.567G>A (p.Glu189=)
NM_017777.4(MKS1):c.573C>G (p.Val191=) rs1247479841
NM_017777.4(MKS1):c.579C>G (p.Asn193Lys) rs1206983556
NM_017777.4(MKS1):c.582C>T (p.Asn194=) rs940590057
NM_017777.4(MKS1):c.598C>T (p.Pro200Ser) rs1969060676
NM_017777.4(MKS1):c.600T>G (p.Pro200=)
NM_017777.4(MKS1):c.618C>A (p.Ile206=)
NM_017777.4(MKS1):c.618C>G (p.Ile206Met)
NM_017777.4(MKS1):c.624A>G (p.Ala208=)
NM_017777.4(MKS1):c.632G>A (p.Gly211Glu)
NM_017777.4(MKS1):c.632_633del (p.Gly211fs)
NM_017777.4(MKS1):c.633del (p.Tyr213fs)
NM_017777.4(MKS1):c.637T>C (p.Tyr213His) rs780721543
NM_017777.4(MKS1):c.639T>A (p.Tyr213Ter) rs746647549
NM_017777.4(MKS1):c.640A>G (p.Lys214Glu)
NM_017777.4(MKS1):c.644+15T>A rs2143803705
NM_017777.4(MKS1):c.644+18C>T
NM_017777.4(MKS1):c.645-12_645-10del rs2143800934
NM_017777.4(MKS1):c.645-13del
NM_017777.4(MKS1):c.645-18T>C
NM_017777.4(MKS1):c.645-2A>T rs773036963
NM_017777.4(MKS1):c.645-7T>C
NM_017777.4(MKS1):c.645G>C (p.Lys215Asn) rs1969031350
NM_017777.4(MKS1):c.653A>G (p.Tyr218Cys)
NM_017777.4(MKS1):c.657G>A (p.Lys219=)
NM_017777.4(MKS1):c.658A>T (p.Lys220Ter) rs2143800757
NM_017777.4(MKS1):c.663T>C (p.Tyr221=) rs1597993685
NM_017777.4(MKS1):c.663T>G (p.Tyr221Ter)
NM_017777.4(MKS1):c.668A>G (p.His223Arg)
NM_017777.4(MKS1):c.675G>A (p.Leu225=) rs1969025949
NM_017777.4(MKS1):c.676T>C (p.Cys226Arg)
NM_017777.4(MKS1):c.693T>C (p.Asp231=) rs777474025
NM_017777.4(MKS1):c.695G>C (p.Ser232Thr) rs1422512368
NM_017777.4(MKS1):c.704T>C (p.Val235Ala) rs557691735
NM_017777.4(MKS1):c.705G>T (p.Val235=)
NM_017777.4(MKS1):c.715_716del (p.Lys239fs)
NM_017777.4(MKS1):c.726C>T (p.Phe242=)
NM_017777.4(MKS1):c.727_728del (p.Thr243fs)
NM_017777.4(MKS1):c.729G>C (p.Thr243=) rs373491923
NM_017777.4(MKS1):c.729G>T (p.Thr243=) rs373491923
NM_017777.4(MKS1):c.741A>C (p.Gly247=)
NM_017777.4(MKS1):c.744C>T (p.Pro248=)
NM_017777.4(MKS1):c.749+11G>A
NM_017777.4(MKS1):c.749+14G>T
NM_017777.4(MKS1):c.749+18G>C
NM_017777.4(MKS1):c.749+20G>T
NM_017777.4(MKS1):c.749+9A>C rs2143799781
NM_017777.4(MKS1):c.750-14T>C
NM_017777.4(MKS1):c.750-15G>C
NM_017777.4(MKS1):c.750-18G>A
NM_017777.4(MKS1):c.750-5T>C
NM_017777.4(MKS1):c.750-7C>T rs2143795530
NM_017777.4(MKS1):c.750-8C>A rs1323177668
NM_017777.4(MKS1):c.750-9A>C rs2143795587
NM_017777.4(MKS1):c.756G>A (p.Glu252=)
NM_017777.4(MKS1):c.763G>C (p.Gly255Arg) rs201237547
NM_017777.4(MKS1):c.763G>T (p.Gly255Trp) rs201237547
NM_017777.4(MKS1):c.771G>A (p.Lys257=) rs886038632
NM_017777.4(MKS1):c.782G>A (p.Trp261Ter)
NM_017777.4(MKS1):c.787T>C (p.Tyr263His) rs1597991801
NM_017777.4(MKS1):c.789T>C (p.Tyr263=) rs1968972848
NM_017777.4(MKS1):c.792G>T (p.Thr264=) rs1272905094
NM_017777.4(MKS1):c.795C>T (p.Ile265=) rs750597104
NM_017777.4(MKS1):c.796G>A (p.Asp266Asn)
NM_017777.4(MKS1):c.798C>T (p.Asp266=) rs1968971741
NM_017777.4(MKS1):c.800A>G (p.Asn267Ser) rs757032985
NM_017777.4(MKS1):c.801T>C (p.Asn267=) rs753798549
NM_017777.4(MKS1):c.804T>C (p.Val268=) rs764069453
NM_017777.4(MKS1):c.805dup (p.Ser269fs) rs1320893771
NM_017777.4(MKS1):c.81-11T>C
NM_017777.4(MKS1):c.81-13C>T
NM_017777.4(MKS1):c.81-14G>A
NM_017777.4(MKS1):c.81-14del
NM_017777.4(MKS1):c.81-2A>G
NM_017777.4(MKS1):c.81-2A>T rs756709080
NM_017777.4(MKS1):c.81-5G>T rs1969411105
NM_017777.4(MKS1):c.81-9T>C
NM_017777.4(MKS1):c.811C>A (p.His271Asn) rs201771125
NM_017777.4(MKS1):c.811C>G (p.His271Asp) rs201771125
NM_017777.4(MKS1):c.811del (p.His271fs) rs1968969593
NM_017777.4(MKS1):c.811dup (p.His271fs)
NM_017777.4(MKS1):c.812dup (p.His271fs)
NM_017777.4(MKS1):c.813C>A (p.His271Gln) rs201961765
NM_017777.4(MKS1):c.817C>G (p.Gln273Glu) rs1968968283
NM_017777.4(MKS1):c.81_82del
NM_017777.4(MKS1):c.823GAG[5] (p.Glu278dup) rs780100856
NM_017777.4(MKS1):c.825G>A (p.Glu275=) rs921504865
NM_017777.4(MKS1):c.826G>A (p.Glu276Lys) rs1968967475
NM_017777.4(MKS1):c.829G>T (p.Glu277Ter) rs1555599412
NM_017777.4(MKS1):c.831G>A (p.Glu277=) rs2143793926
NM_017777.4(MKS1):c.832G>T (p.Glu278Ter)
NM_017777.4(MKS1):c.840A>G (p.Glu280=) rs1406421081
NM_017777.4(MKS1):c.843G>T (p.Arg281=)
NM_017777.4(MKS1):c.847G>C (p.Val283Leu) rs976973396
NM_017777.4(MKS1):c.84C>T (p.Val28=)
NM_017777.4(MKS1):c.852C>G (p.Phe284Leu)
NM_017777.4(MKS1):c.858+17T>G
NM_017777.4(MKS1):c.858+1G>A rs756102768
NM_017777.4(MKS1):c.858+4A>C rs1359924062
NM_017777.4(MKS1):c.858+7G>C rs918270665
NM_017777.4(MKS1):c.858+7G>T rs918270665
NM_017777.4(MKS1):c.858+9A>T
NM_017777.4(MKS1):c.859-19GTTTG[3]
NM_017777.4(MKS1):c.859-2A>C
NM_017777.4(MKS1):c.859-2A>T
NM_017777.4(MKS1):c.859-5C>T
NM_017777.4(MKS1):c.85C>T (p.His29Tyr) rs1969410240
NM_017777.4(MKS1):c.868_871del (p.Arg290fs)
NM_017777.4(MKS1):c.870G>T (p.Arg290=) rs769489826
NM_017777.4(MKS1):c.875A>G (p.Lys292Arg) rs1170460125
NM_017777.4(MKS1):c.876G>A (p.Lys292=)
NM_017777.4(MKS1):c.882T>C (p.Tyr294=)
NM_017777.4(MKS1):c.892C>T (p.Leu298Phe)
NM_017777.4(MKS1):c.900C>T (p.Gly300=)
NM_017777.4(MKS1):c.915+19T>C
NM_017777.4(MKS1):c.915+19_915+21del rs3217067
NM_017777.4(MKS1):c.915+20G>A
NM_017777.4(MKS1):c.915+8G>T
NM_017777.4(MKS1):c.916-16C>T
NM_017777.4(MKS1):c.916-20C>T
NM_017777.4(MKS1):c.916-6C>T rs765028851
NM_017777.4(MKS1):c.916-7A>C rs2143778235
NM_017777.4(MKS1):c.917C>T (p.Thr306Ile) rs1567799806
NM_017777.4(MKS1):c.918T>A (p.Thr306=)
NM_017777.4(MKS1):c.918T>G (p.Thr306=)
NM_017777.4(MKS1):c.918del (p.Val307fs) rs2143778074
NM_017777.4(MKS1):c.921C>G (p.Val307=)
NM_017777.4(MKS1):c.925_926insTCTAA (p.Gly309delinsValTer) rs2143777988
NM_017777.4(MKS1):c.92A>G (p.Gln31Arg)
NM_017777.4(MKS1):c.931C>T (p.Leu311Phe) rs2143777929
NM_017777.4(MKS1):c.932T>A (p.Leu311His)
NM_017777.4(MKS1):c.934C>T (p.Arg312Trp)
NM_017777.4(MKS1):c.935G>A (p.Arg312Gln)
NM_017777.4(MKS1):c.935G>C (p.Arg312Pro) rs369483945
NM_017777.4(MKS1):c.946_947del (p.Asn316fs)
NM_017777.4(MKS1):c.948T>C (p.Asn316=)
NM_017777.4(MKS1):c.949G>T (p.Gly317Ter)
NM_017777.4(MKS1):c.94del (p.Arg32fs) rs1969409341
NM_017777.4(MKS1):c.955G>A (p.Val319Ile) rs1393510784
NM_017777.4(MKS1):c.958+13C>G
NM_017777.4(MKS1):c.958+14T>C
NM_017777.4(MKS1):c.958+18A>G
NM_017777.4(MKS1):c.958+7G>T
NM_017777.4(MKS1):c.958+8T>A
NM_017777.4(MKS1):c.959-10TC[2]
NM_017777.4(MKS1):c.959-16del
NM_017777.4(MKS1):c.959-1G>A
NM_017777.4(MKS1):c.959-20C>T
NM_017777.4(MKS1):c.959-2A>G rs1273591389
NM_017777.4(MKS1):c.959-5C>A rs765242131
NM_017777.4(MKS1):c.959-7C>G
NM_017777.4(MKS1):c.959-8T>C rs763444295
NM_017777.4(MKS1):c.959-9C>A rs538316917
NM_017777.4(MKS1):c.959-9C>G rs538316917
NM_017777.4(MKS1):c.977A>G (p.Glu326Gly)
NM_017777.4(MKS1):c.981T>C (p.Tyr327=)
NM_017777.4(MKS1):c.992del (p.Tyr331fs)
NM_017777.4(MKS1):c.998A>G (p.His333Arg) rs2143774851

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.