Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.48688436A=CA1248601132GTF2A1L,LHCGR,STON1-GTF2A1Lc.1361T= (p.Val454=)
c.948-297T= (n.948-297T=)
c.3441+16756A= (n.3441+16756A=)
c.*105T= (n.*105T=)
c.1280T= (p.Val427=)
c.276+16756A= (n.276+16756A=)
c.*220+5788T= (n.*220+5788T=)
c.404T= (p.Val135=)
c.431T= (p.Val144=)
c.1286T= (p.Val429=)
c.1100T= (p.Val367=)
c.1019T= (p.Val340=)
c.725T= (p.Val242=)
c.1106T= (p.Val369=)
2g.48688436A>CCA346747264GTF2A1L,LHCGR,STON1-GTF2A1Lc.1361T>G (p.Val454Gly)
c.948-297T>G (n.948-297T>G)
c.3441+16756A>C (n.3441+16756A>C)
c.*105T>G (n.*105T>G)
c.1280T>G (p.Val427Gly)
c.276+16756A>C (n.276+16756A>C)
c.*220+5788T>G (n.*220+5788T>G)
c.404T>G (p.Val135Gly)
c.431T>G (p.Val144Gly)
c.1286T>G (p.Val429Gly)
c.1100T>G (p.Val367Gly)
c.1019T>G (p.Val340Gly)
c.725T>G (p.Val242Gly)
c.1106T>G (p.Val369Gly)
2g.48688436A>GCA46753007GTF2A1L,LHCGR,STON1-GTF2A1Lc.1361T>C (p.Val454Ala)
c.948-297T>C (n.948-297T>C)
c.3441+16756A>G (n.3441+16756A>G)
c.*105T>C (n.*105T>C)
c.1280T>C (p.Val427Ala)
c.276+16756A>G (n.276+16756A>G)
c.*220+5788T>C (n.*220+5788T>C)
c.404T>C (p.Val135Ala)
c.431T>C (p.Val144Ala)
c.1286T>C (p.Val429Ala)
c.1100T>C (p.Val367Ala)
c.1019T>C (p.Val340Ala)
c.725T>C (p.Val242Ala)
c.1106T>C (p.Val369Ala)
 dbSNP gnomAD v4
2g.48688436A>TCA346747267GTF2A1L,LHCGR,STON1-GTF2A1Lc.1361T>A (p.Val454Asp)
c.948-297T>A (n.948-297T>A)
c.3441+16756A>T (n.3441+16756A>T)
c.*105T>A (n.*105T>A)
c.1280T>A (p.Val427Asp)
c.276+16756A>T (n.276+16756A>T)
c.*220+5788T>A (n.*220+5788T>A)
c.404T>A (p.Val135Asp)
c.431T>A (p.Val144Asp)
c.1286T>A (p.Val429Asp)
c.1100T>A (p.Val367Asp)
c.1019T>A (p.Val340Asp)
c.725T>A (p.Val242Asp)
c.1106T>A (p.Val369Asp)
2g.48688437C>ACA346747269GTF2A1L,LHCGR,STON1-GTF2A1Lc.1360G>T (p.Val454Phe)
c.948-298G>T (n.948-298G>T)
c.3441+16757C>A (n.3441+16757C>A)
c.*104G>T (n.*104G>T)
c.1279G>T (p.Val427Phe)
c.276+16757C>A (n.276+16757C>A)
c.*220+5787G>T (n.*220+5787G>T)
c.403G>T (p.Val135Phe)
c.430G>T (p.Val144Phe)
c.1285G>T (p.Val429Phe)
c.1099G>T (p.Val367Phe)
c.1018G>T (p.Val340Phe)
c.724G>T (p.Val242Phe)
c.1105G>T (p.Val369Phe)
2g.48688437C=CA1248601133GTF2A1L,LHCGR,STON1-GTF2A1Lc.1360G= (p.Val454=)
c.948-298G= (n.948-298G=)
c.3441+16757C= (n.3441+16757C=)
c.*104G= (n.*104G=)
c.1279G= (p.Val427=)
c.276+16757C= (n.276+16757C=)
c.*220+5787G= (n.*220+5787G=)
c.403G= (p.Val135=)
c.430G= (p.Val144=)
c.1285G= (p.Val429=)
c.1099G= (p.Val367=)
c.1018G= (p.Val340=)
c.724G= (p.Val242=)
c.1105G= (p.Val369=)
2g.48688437C>GCA346747271GTF2A1L,LHCGR,STON1-GTF2A1Lc.1360G>C (p.Val454Leu)
c.948-298G>C (n.948-298G>C)
c.3441+16757C>G (n.3441+16757C>G)
c.*104G>C (n.*104G>C)
c.1279G>C (p.Val427Leu)
c.276+16757C>G (n.276+16757C>G)
c.*220+5787G>C (n.*220+5787G>C)
c.403G>C (p.Val135Leu)
c.430G>C (p.Val144Leu)
c.1285G>C (p.Val429Leu)
c.1099G>C (p.Val367Leu)
c.1018G>C (p.Val340Leu)
c.724G>C (p.Val242Leu)
c.1105G>C (p.Val369Leu)
2g.48688437C>TCA1653041GTF2A1L,LHCGR,STON1-GTF2A1Lc.1360G>A (p.Val454Ile)
c.948-298G>A (n.948-298G>A)
c.3441+16757C>T (n.3441+16757C>T)
c.*104G>A (n.*104G>A)
c.1279G>A (p.Val427Ile)
c.276+16757C>T (n.276+16757C>T)
c.*220+5787G>A (n.*220+5787G>A)
c.403G>A (p.Val135Ile)
c.430G>A (p.Val144Ile)
c.1285G>A (p.Val429Ile)
c.1099G>A (p.Val367Ile)
c.1018G>A (p.Val340Ile)
c.724G>A (p.Val242Ile)
c.1105G>A (p.Val369Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688438A>CCA426125350GTF2A1L,LHCGR,STON1-GTF2A1Lc.1359T>G (p.Ser453=)
c.948-299T>G (n.948-299T>G)
c.3441+16758A>C (n.3441+16758A>C)
c.*103T>G (n.*103T>G)
c.1278T>G (p.Ser426=)
c.276+16758A>C (n.276+16758A>C)
c.*220+5786T>G (n.*220+5786T>G)
c.402T>G (p.Ser134=)
c.429T>G (p.Ser143=)
c.1284T>G (p.Ser428=)
c.1098T>G (p.Ser366=)
c.1017T>G (p.Ser339=)
c.723T>G (p.Ser241=)
c.1104T>G (p.Ser368=)
2g.48688438A>GCA426125353GTF2A1L,LHCGR,STON1-GTF2A1Lc.1359T>C (p.Ser453=)
c.948-299T>C (n.948-299T>C)
c.3441+16758A>G (n.3441+16758A>G)
c.*103T>C (n.*103T>C)
c.1278T>C (p.Ser426=)
c.276+16758A>G (n.276+16758A>G)
c.*220+5786T>C (n.*220+5786T>C)
c.402T>C (p.Ser134=)
c.429T>C (p.Ser143=)
c.1284T>C (p.Ser428=)
c.1098T>C (p.Ser366=)
c.1017T>C (p.Ser339=)
c.723T>C (p.Ser241=)
c.1104T>C (p.Ser368=)
2g.48688438A>TCA426125355GTF2A1L,LHCGR,STON1-GTF2A1Lc.1359T>A (p.Ser453=)
c.948-299T>A (n.948-299T>A)
c.3441+16758A>T (n.3441+16758A>T)
c.*103T>A (n.*103T>A)
c.1278T>A (p.Ser426=)
c.276+16758A>T (n.276+16758A>T)
c.*220+5786T>A (n.*220+5786T>A)
c.402T>A (p.Ser134=)
c.429T>A (p.Ser143=)
c.1284T>A (p.Ser428=)
c.1098T>A (p.Ser366=)
c.1017T>A (p.Ser339=)
c.723T>A (p.Ser241=)
c.1104T>A (p.Ser368=)
2g.48688439G>ACA346747274GTF2A1L,LHCGR,STON1-GTF2A1Lc.1358C>T (p.Ser453Phe)
c.948-300C>T (n.948-300C>T)
c.3441+16759G>A (n.3441+16759G>A)
c.*102C>T (n.*102C>T)
c.1277C>T (p.Ser426Phe)
c.276+16759G>A (n.276+16759G>A)
c.*220+5785C>T (n.*220+5785C>T)
c.401C>T (p.Ser134Phe)
c.428C>T (p.Ser143Phe)
c.1283C>T (p.Ser428Phe)
c.1097C>T (p.Ser366Phe)
c.1016C>T (p.Ser339Phe)
c.722C>T (p.Ser241Phe)
c.1103C>T (p.Ser368Phe)
2g.48688439G>CCA346747276GTF2A1L,LHCGR,STON1-GTF2A1Lc.1358C>G (p.Ser453Cys)
c.948-300C>G (n.948-300C>G)
c.3441+16759G>C (n.3441+16759G>C)
c.*102C>G (n.*102C>G)
c.1277C>G (p.Ser426Cys)
c.276+16759G>C (n.276+16759G>C)
c.*220+5785C>G (n.*220+5785C>G)
c.401C>G (p.Ser134Cys)
c.428C>G (p.Ser143Cys)
c.1283C>G (p.Ser428Cys)
c.1097C>G (p.Ser366Cys)
c.1016C>G (p.Ser339Cys)
c.722C>G (p.Ser241Cys)
c.1103C>G (p.Ser368Cys)
2g.48688439G>TCA346747278GTF2A1L,LHCGR,STON1-GTF2A1Lc.1358C>A (p.Ser453Tyr)
c.948-300C>A (n.948-300C>A)
c.3441+16759G>T (n.3441+16759G>T)
c.*102C>A (n.*102C>A)
c.1277C>A (p.Ser426Tyr)
c.276+16759G>T (n.276+16759G>T)
c.*220+5785C>A (n.*220+5785C>A)
c.401C>A (p.Ser134Tyr)
c.428C>A (p.Ser143Tyr)
c.1283C>A (p.Ser428Tyr)
c.1097C>A (p.Ser366Tyr)
c.1016C>A (p.Ser339Tyr)
c.722C>A (p.Ser241Tyr)
c.1103C>A (p.Ser368Tyr)
2g.48688440A=CA1248601134GTF2A1L,LHCGR,STON1-GTF2A1Lc.1357T= (p.Ser453=)
c.948-301T= (n.948-301T=)
c.3441+16760A= (n.3441+16760A=)
c.*101T= (n.*101T=)
c.1276T= (p.Ser426=)
c.276+16760A= (n.276+16760A=)
c.*220+5784T= (n.*220+5784T=)
c.400T= (p.Ser134=)
c.427T= (p.Ser143=)
c.1282T= (p.Ser428=)
c.1096T= (p.Ser366=)
c.1015T= (p.Ser339=)
c.721T= (p.Ser241=)
c.1102T= (p.Ser368=)
2g.48688440A>CCA346747281GTF2A1L,LHCGR,STON1-GTF2A1Lc.1357T>G (p.Ser453Ala)
c.948-301T>G (n.948-301T>G)
c.3441+16760A>C (n.3441+16760A>C)
c.*101T>G (n.*101T>G)
c.1276T>G (p.Ser426Ala)
c.276+16760A>C (n.276+16760A>C)
c.*220+5784T>G (n.*220+5784T>G)
c.400T>G (p.Ser134Ala)
c.427T>G (p.Ser143Ala)
c.1282T>G (p.Ser428Ala)
c.1096T>G (p.Ser366Ala)
c.1015T>G (p.Ser339Ala)
c.721T>G (p.Ser241Ala)
c.1102T>G (p.Ser368Ala)
 dbSNP
2g.48688440A>GCA346747283GTF2A1L,LHCGR,STON1-GTF2A1Lc.1357T>C (p.Ser453Pro)
c.948-301T>C (n.948-301T>C)
c.3441+16760A>G (n.3441+16760A>G)
c.*101T>C (n.*101T>C)
c.1276T>C (p.Ser426Pro)
c.276+16760A>G (n.276+16760A>G)
c.*220+5784T>C (n.*220+5784T>C)
c.400T>C (p.Ser134Pro)
c.427T>C (p.Ser143Pro)
c.1282T>C (p.Ser428Pro)
c.1096T>C (p.Ser366Pro)
c.1015T>C (p.Ser339Pro)
c.721T>C (p.Ser241Pro)
c.1102T>C (p.Ser368Pro)
2g.48688440A>TCA346747285GTF2A1L,LHCGR,STON1-GTF2A1Lc.1357T>A (p.Ser453Thr)
c.948-301T>A (n.948-301T>A)
c.3441+16760A>T (n.3441+16760A>T)
c.*101T>A (n.*101T>A)
c.1276T>A (p.Ser426Thr)
c.276+16760A>T (n.276+16760A>T)
c.*220+5784T>A (n.*220+5784T>A)
c.400T>A (p.Ser134Thr)
c.427T>A (p.Ser143Thr)
c.1282T>A (p.Ser428Thr)
c.1096T>A (p.Ser366Thr)
c.1015T>A (p.Ser339Thr)
c.721T>A (p.Ser241Thr)
c.1102T>A (p.Ser368Thr)
2g.48688441A>CCA426125359GTF2A1L,LHCGR,STON1-GTF2A1Lc.1356T>G (p.Leu452=)
c.948-302T>G (n.948-302T>G)
c.3441+16761A>C (n.3441+16761A>C)
c.*100T>G (n.*100T>G)
c.1275T>G (p.Leu425=)
c.276+16761A>C (n.276+16761A>C)
c.*220+5783T>G (n.*220+5783T>G)
c.399T>G (p.Leu133=)
c.426T>G (p.Leu142=)
c.1281T>G (p.Leu427=)
c.1095T>G (p.Leu365=)
c.1014T>G (p.Leu338=)
c.720T>G (p.Leu240=)
c.1101T>G (p.Leu367=)
2g.48688441A>GCA426125360GTF2A1L,LHCGR,STON1-GTF2A1Lc.1356T>C (p.Leu452=)
c.948-302T>C (n.948-302T>C)
c.3441+16761A>G (n.3441+16761A>G)
c.*100T>C (n.*100T>C)
c.1275T>C (p.Leu425=)
c.276+16761A>G (n.276+16761A>G)
c.*220+5783T>C (n.*220+5783T>C)
c.399T>C (p.Leu133=)
c.426T>C (p.Leu142=)
c.1281T>C (p.Leu427=)
c.1095T>C (p.Leu365=)
c.1014T>C (p.Leu338=)
c.720T>C (p.Leu240=)
c.1101T>C (p.Leu367=)
2g.48688441A>TCA426125361GTF2A1L,LHCGR,STON1-GTF2A1Lc.1356T>A (p.Leu452=)
c.948-302T>A (n.948-302T>A)
c.3441+16761A>T (n.3441+16761A>T)
c.*100T>A (n.*100T>A)
c.1275T>A (p.Leu425=)
c.276+16761A>T (n.276+16761A>T)
c.*220+5783T>A (n.*220+5783T>A)
c.399T>A (p.Leu133=)
c.426T>A (p.Leu142=)
c.1281T>A (p.Leu427=)
c.1095T>A (p.Leu365=)
c.1014T>A (p.Leu338=)
c.720T>A (p.Leu240=)
c.1101T>A (p.Leu367=)
2g.48688442A>CCA346747292GTF2A1L,LHCGR,STON1-GTF2A1Lc.1355T>G (p.Leu452Arg)
c.948-303T>G (n.948-303T>G)
c.3441+16762A>C (n.3441+16762A>C)
c.*99T>G (n.*99T>G)
c.1274T>G (p.Leu425Arg)
c.276+16762A>C (n.276+16762A>C)
c.*220+5782T>G (n.*220+5782T>G)
c.398T>G (p.Leu133Arg)
c.425T>G (p.Leu142Arg)
c.1280T>G (p.Leu427Arg)
c.1094T>G (p.Leu365Arg)
c.1013T>G (p.Leu338Arg)
c.719T>G (p.Leu240Arg)
c.1100T>G (p.Leu367Arg)
2g.48688442A>GCA346747290GTF2A1L,LHCGR,STON1-GTF2A1Lc.1355T>C (p.Leu452Pro)
c.948-303T>C (n.948-303T>C)
c.3441+16762A>G (n.3441+16762A>G)
c.*99T>C (n.*99T>C)
c.1274T>C (p.Leu425Pro)
c.276+16762A>G (n.276+16762A>G)
c.*220+5782T>C (n.*220+5782T>C)
c.398T>C (p.Leu133Pro)
c.425T>C (p.Leu142Pro)
c.1280T>C (p.Leu427Pro)
c.1094T>C (p.Leu365Pro)
c.1013T>C (p.Leu338Pro)
c.719T>C (p.Leu240Pro)
c.1100T>C (p.Leu367Pro)
2g.48688442A>TCA346747287GTF2A1L,LHCGR,STON1-GTF2A1Lc.1355T>A (p.Leu452His)
c.948-303T>A (n.948-303T>A)
c.3441+16762A>T (n.3441+16762A>T)
c.*99T>A (n.*99T>A)
c.1274T>A (p.Leu425His)
c.276+16762A>T (n.276+16762A>T)
c.*220+5782T>A (n.*220+5782T>A)
c.398T>A (p.Leu133His)
c.425T>A (p.Leu142His)
c.1280T>A (p.Leu427His)
c.1094T>A (p.Leu365His)
c.1013T>A (p.Leu338His)
c.719T>A (p.Leu240His)
c.1100T>A (p.Leu367His)
2g.48688443G>ACA346747295GTF2A1L,LHCGR,STON1-GTF2A1Lc.1354C>T (p.Leu452Phe)
c.948-304C>T (n.948-304C>T)
c.3441+16763G>A (n.3441+16763G>A)
c.*98C>T (n.*98C>T)
c.1273C>T (p.Leu425Phe)
c.276+16763G>A (n.276+16763G>A)
c.*220+5781C>T (n.*220+5781C>T)
c.397C>T (p.Leu133Phe)
c.424C>T (p.Leu142Phe)
c.1279C>T (p.Leu427Phe)
c.1093C>T (p.Leu365Phe)
c.1012C>T (p.Leu338Phe)
c.718C>T (p.Leu240Phe)
c.1099C>T (p.Leu367Phe)
2g.48688443G>CCA346747301GTF2A1L,LHCGR,STON1-GTF2A1Lc.1354C>G (p.Leu452Val)
c.948-304C>G (n.948-304C>G)
c.3441+16763G>C (n.3441+16763G>C)
c.*98C>G (n.*98C>G)
c.1273C>G (p.Leu425Val)
c.276+16763G>C (n.276+16763G>C)
c.*220+5781C>G (n.*220+5781C>G)
c.397C>G (p.Leu133Val)
c.424C>G (p.Leu142Val)
c.1279C>G (p.Leu427Val)
c.1093C>G (p.Leu365Val)
c.1012C>G (p.Leu338Val)
c.718C>G (p.Leu240Val)
c.1099C>G (p.Leu367Val)
2g.48688443G>TCA346747302GTF2A1L,LHCGR,STON1-GTF2A1Lc.1354C>A (p.Leu452Ile)
c.948-304C>A (n.948-304C>A)
c.3441+16763G>T (n.3441+16763G>T)
c.*98C>A (n.*98C>A)
c.1273C>A (p.Leu425Ile)
c.276+16763G>T (n.276+16763G>T)
c.*220+5781C>A (n.*220+5781C>A)
c.397C>A (p.Leu133Ile)
c.424C>A (p.Leu142Ile)
c.1279C>A (p.Leu427Ile)
c.1093C>A (p.Leu365Ile)
c.1012C>A (p.Leu338Ile)
c.718C>A (p.Leu240Ile)
c.1099C>A (p.Leu367Ile)
2g.48688444T>ACA346747305GTF2A1L,LHCGR,STON1-GTF2A1Lc.1353A>T (p.Glu451Asp)
c.948-305A>T (n.948-305A>T)
c.3441+16764T>A (n.3441+16764T>A)
c.*97A>T (n.*97A>T)
c.1272A>T (p.Glu424Asp)
c.276+16764T>A (n.276+16764T>A)
c.*220+5780A>T (n.*220+5780A>T)
c.396A>T (p.Glu132Asp)
c.423A>T (p.Glu141Asp)
c.1278A>T (p.Glu426Asp)
c.1092A>T (p.Glu364Asp)
c.1011A>T (p.Glu337Asp)
c.717A>T (p.Glu239Asp)
c.1098A>T (p.Glu366Asp)
2g.48688444T>CCA426125368GTF2A1L,LHCGR,STON1-GTF2A1Lc.1353A>G (p.Glu451=)
c.948-305A>G (n.948-305A>G)
c.3441+16764T>C (n.3441+16764T>C)
c.*97A>G (n.*97A>G)
c.1272A>G (p.Glu424=)
c.276+16764T>C (n.276+16764T>C)
c.*220+5780A>G (n.*220+5780A>G)
c.396A>G (p.Glu132=)
c.423A>G (p.Glu141=)
c.1278A>G (p.Glu426=)
c.1092A>G (p.Glu364=)
c.1011A>G (p.Glu337=)
c.717A>G (p.Glu239=)
c.1098A>G (p.Glu366=)
 dbSNP gnomAD v4
2g.48688444T>GCA346747307GTF2A1L,LHCGR,STON1-GTF2A1Lc.1353A>C (p.Glu451Asp)
c.948-305A>C (n.948-305A>C)
c.3441+16764T>G (n.3441+16764T>G)
c.*97A>C (n.*97A>C)
c.1272A>C (p.Glu424Asp)
c.276+16764T>G (n.276+16764T>G)
c.*220+5780A>C (n.*220+5780A>C)
c.396A>C (p.Glu132Asp)
c.423A>C (p.Glu141Asp)
c.1278A>C (p.Glu426Asp)
c.1092A>C (p.Glu364Asp)
c.1011A>C (p.Glu337Asp)
c.717A>C (p.Glu239Asp)
c.1098A>C (p.Glu366Asp)
2g.48688444T=CA1248601135GTF2A1L,LHCGR,STON1-GTF2A1Lc.1353A= (p.Glu451=)
c.948-305A= (n.948-305A=)
c.3441+16764T= (n.3441+16764T=)
c.*97A= (n.*97A=)
c.1272A= (p.Glu424=)
c.276+16764T= (n.276+16764T=)
c.*220+5780A= (n.*220+5780A=)
c.396A= (p.Glu132=)
c.423A= (p.Glu141=)
c.1278A= (p.Glu426=)
c.1092A= (p.Glu364=)
c.1011A= (p.Glu337=)
c.717A= (p.Glu239=)
c.1098A= (p.Glu366=)
2g.48688445T>ACA346747310GTF2A1L,LHCGR,STON1-GTF2A1Lc.1352A>T (p.Glu451Val)
c.948-306A>T (n.948-306A>T)
c.3441+16765T>A (n.3441+16765T>A)
c.*96A>T (n.*96A>T)
c.1271A>T (p.Glu424Val)
c.276+16765T>A (n.276+16765T>A)
c.*220+5779A>T (n.*220+5779A>T)
c.395A>T (p.Glu132Val)
c.422A>T (p.Glu141Val)
c.1277A>T (p.Glu426Val)
c.1091A>T (p.Glu364Val)
c.1010A>T (p.Glu337Val)
c.716A>T (p.Glu239Val)
c.1097A>T (p.Glu366Val)
2g.48688445T>CCA346747312GTF2A1L,LHCGR,STON1-GTF2A1Lc.1352A>G (p.Glu451Gly)
c.948-306A>G (n.948-306A>G)
c.3441+16765T>C (n.3441+16765T>C)
c.*96A>G (n.*96A>G)
c.1271A>G (p.Glu424Gly)
c.276+16765T>C (n.276+16765T>C)
c.*220+5779A>G (n.*220+5779A>G)
c.395A>G (p.Glu132Gly)
c.422A>G (p.Glu141Gly)
c.1277A>G (p.Glu426Gly)
c.1091A>G (p.Glu364Gly)
c.1010A>G (p.Glu337Gly)
c.716A>G (p.Glu239Gly)
c.1097A>G (p.Glu366Gly)
2g.48688445T>GCA346747318GTF2A1L,LHCGR,STON1-GTF2A1Lc.1352A>C (p.Glu451Ala)
c.948-306A>C (n.948-306A>C)
c.3441+16765T>G (n.3441+16765T>G)
c.*96A>C (n.*96A>C)
c.1271A>C (p.Glu424Ala)
c.276+16765T>G (n.276+16765T>G)
c.*220+5779A>C (n.*220+5779A>C)
c.395A>C (p.Glu132Ala)
c.422A>C (p.Glu141Ala)
c.1277A>C (p.Glu426Ala)
c.1091A>C (p.Glu364Ala)
c.1010A>C (p.Glu337Ala)
c.716A>C (p.Glu239Ala)
c.1097A>C (p.Glu366Ala)
2g.48688446C>ACA346747320GTF2A1L,LHCGR,STON1-GTF2A1Lc.1351G>T (p.Glu451Ter)
c.948-307G>T (n.948-307G>T)
c.3441+16766C>A (n.3441+16766C>A)
c.*95G>T (n.*95G>T)
c.1270G>T (p.Glu424Ter)
c.276+16766C>A (n.276+16766C>A)
c.*220+5778G>T (n.*220+5778G>T)
c.394G>T (p.Glu132Ter)
c.421G>T (p.Glu141Ter)
c.1276G>T (p.Glu426Ter)
c.1090G>T (p.Glu364Ter)
c.1009G>T (p.Glu337Ter)
c.715G>T (p.Glu239Ter)
c.1096G>T (p.Glu366Ter)
 dbSNP gnomAD v4
2g.48688446C=CA1248601136GTF2A1L,LHCGR,STON1-GTF2A1Lc.1351G= (p.Glu451=)
c.948-307G= (n.948-307G=)
c.3441+16766C= (n.3441+16766C=)
c.*95G= (n.*95G=)
c.1270G= (p.Glu424=)
c.276+16766C= (n.276+16766C=)
c.*220+5778G= (n.*220+5778G=)
c.394G= (p.Glu132=)
c.421G= (p.Glu141=)
c.1276G= (p.Glu426=)
c.1090G= (p.Glu364=)
c.1009G= (p.Glu337=)
c.715G= (p.Glu239=)
c.1096G= (p.Glu366=)
2g.48688446C>GCA346747321GTF2A1L,LHCGR,STON1-GTF2A1Lc.1351G>C (p.Glu451Gln)
c.948-307G>C (n.948-307G>C)
c.3441+16766C>G (n.3441+16766C>G)
c.*95G>C (n.*95G>C)
c.1270G>C (p.Glu424Gln)
c.276+16766C>G (n.276+16766C>G)
c.*220+5778G>C (n.*220+5778G>C)
c.394G>C (p.Glu132Gln)
c.421G>C (p.Glu141Gln)
c.1276G>C (p.Glu426Gln)
c.1090G>C (p.Glu364Gln)
c.1009G>C (p.Glu337Gln)
c.715G>C (p.Glu239Gln)
c.1096G>C (p.Glu366Gln)
2g.48688446C>TCA346747323GTF2A1L,LHCGR,STON1-GTF2A1Lc.1351G>A (p.Glu451Lys)
c.948-307G>A (n.948-307G>A)
c.3441+16766C>T (n.3441+16766C>T)
c.*95G>A (n.*95G>A)
c.1270G>A (p.Glu424Lys)
c.276+16766C>T (n.276+16766C>T)
c.*220+5778G>A (n.*220+5778G>A)
c.394G>A (p.Glu132Lys)
c.421G>A (p.Glu141Lys)
c.1276G>A (p.Glu426Lys)
c.1090G>A (p.Glu364Lys)
c.1009G>A (p.Glu337Lys)
c.715G>A (p.Glu239Lys)
c.1096G>A (p.Glu366Lys)
 COSMIC
2g.48688447A>CCA346747326GTF2A1L,LHCGR,STON1-GTF2A1Lc.1350T>G (p.Ser450Arg)
c.948-308T>G (n.948-308T>G)
c.3441+16767A>C (n.3441+16767A>C)
c.*94T>G (n.*94T>G)
c.1269T>G (p.Ser423Arg)
c.276+16767A>C (n.276+16767A>C)
c.*220+5777T>G (n.*220+5777T>G)
c.393T>G (p.Ser131Arg)
c.420T>G (p.Ser140Arg)
c.1275T>G (p.Ser425Arg)
c.1089T>G (p.Ser363Arg)
c.1008T>G (p.Ser336Arg)
c.714T>G (p.Ser238Arg)
c.1095T>G (p.Ser365Arg)
2g.48688447A>GCA426125376GTF2A1L,LHCGR,STON1-GTF2A1Lc.1350T>C (p.Ser450=)
c.948-308T>C (n.948-308T>C)
c.3441+16767A>G (n.3441+16767A>G)
c.*94T>C (n.*94T>C)
c.1269T>C (p.Ser423=)
c.276+16767A>G (n.276+16767A>G)
c.*220+5777T>C (n.*220+5777T>C)
c.393T>C (p.Ser131=)
c.420T>C (p.Ser140=)
c.1275T>C (p.Ser425=)
c.1089T>C (p.Ser363=)
c.1008T>C (p.Ser336=)
c.714T>C (p.Ser238=)
c.1095T>C (p.Ser365=)
2g.48688447A>TCA346747328GTF2A1L,LHCGR,STON1-GTF2A1Lc.1350T>A (p.Ser450Arg)
c.948-308T>A (n.948-308T>A)
c.3441+16767A>T (n.3441+16767A>T)
c.*94T>A (n.*94T>A)
c.1269T>A (p.Ser423Arg)
c.276+16767A>T (n.276+16767A>T)
c.*220+5777T>A (n.*220+5777T>A)
c.393T>A (p.Ser131Arg)
c.420T>A (p.Ser140Arg)
c.1275T>A (p.Ser425Arg)
c.1089T>A (p.Ser363Arg)
c.1008T>A (p.Ser336Arg)
c.714T>A (p.Ser238Arg)
c.1095T>A (p.Ser365Arg)
2g.48688448C>ACA346747331GTF2A1L,LHCGR,STON1-GTF2A1Lc.1349G>T (p.Ser450Ile)
c.948-309G>T (n.948-309G>T)
c.3441+16768C>A (n.3441+16768C>A)
c.*93G>T (n.*93G>T)
c.1268G>T (p.Ser423Ile)
c.276+16768C>A (n.276+16768C>A)
c.*220+5776G>T (n.*220+5776G>T)
c.392G>T (p.Ser131Ile)
c.419G>T (p.Ser140Ile)
c.1274G>T (p.Ser425Ile)
c.1088G>T (p.Ser363Ile)
c.1007G>T (p.Ser336Ile)
c.713G>T (p.Ser238Ile)
c.1094G>T (p.Ser365Ile)
2g.48688448C=CA1248601137GTF2A1L,LHCGR,STON1-GTF2A1Lc.1349G= (p.Ser450=)
c.948-309G= (n.948-309G=)
c.3441+16768C= (n.3441+16768C=)
c.*93G= (n.*93G=)
c.1268G= (p.Ser423=)
c.276+16768C= (n.276+16768C=)
c.*220+5776G= (n.*220+5776G=)
c.392G= (p.Ser131=)
c.419G= (p.Ser140=)
c.1274G= (p.Ser425=)
c.1088G= (p.Ser363=)
c.1007G= (p.Ser336=)
c.713G= (p.Ser238=)
c.1094G= (p.Ser365=)
2g.48688448C>GCA1653042GTF2A1L,LHCGR,STON1-GTF2A1Lc.1349G>C (p.Ser450Thr)
c.948-309G>C (n.948-309G>C)
c.3441+16768C>G (n.3441+16768C>G)
c.*93G>C (n.*93G>C)
c.1268G>C (p.Ser423Thr)
c.276+16768C>G (n.276+16768C>G)
c.*220+5776G>C (n.*220+5776G>C)
c.392G>C (p.Ser131Thr)
c.419G>C (p.Ser140Thr)
c.1274G>C (p.Ser425Thr)
c.1088G>C (p.Ser363Thr)
c.1007G>C (p.Ser336Thr)
c.713G>C (p.Ser238Thr)
c.1094G>C (p.Ser365Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688448C>TCA1653043GTF2A1L,LHCGR,STON1-GTF2A1Lc.1349G>A (p.Ser450Asn)
c.948-309G>A (n.948-309G>A)
c.3441+16768C>T (n.3441+16768C>T)
c.*93G>A (n.*93G>A)
c.1268G>A (p.Ser423Asn)
c.276+16768C>T (n.276+16768C>T)
c.*220+5776G>A (n.*220+5776G>A)
c.392G>A (p.Ser131Asn)
c.419G>A (p.Ser140Asn)
c.1274G>A (p.Ser425Asn)
c.1088G>A (p.Ser363Asn)
c.1007G>A (p.Ser336Asn)
c.713G>A (p.Ser238Asn)
c.1094G>A (p.Ser365Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688449T>ACA346747336GTF2A1L,LHCGR,STON1-GTF2A1Lc.1348A>T (p.Ser450Cys)
c.948-310A>T (n.948-310A>T)
c.3441+16769T>A (n.3441+16769T>A)
c.*92A>T (n.*92A>T)
c.1267A>T (p.Ser423Cys)
c.276+16769T>A (n.276+16769T>A)
c.*220+5775A>T (n.*220+5775A>T)
c.391A>T (p.Ser131Cys)
c.418A>T (p.Ser140Cys)
c.1273A>T (p.Ser425Cys)
c.1087A>T (p.Ser363Cys)
c.1006A>T (p.Ser336Cys)
c.712A>T (p.Ser238Cys)
c.1093A>T (p.Ser365Cys)
2g.48688449T>CCA346747334GTF2A1L,LHCGR,STON1-GTF2A1Lc.1348A>G (p.Ser450Gly)
c.948-310A>G (n.948-310A>G)
c.3441+16769T>C (n.3441+16769T>C)
c.*92A>G (n.*92A>G)
c.1267A>G (p.Ser423Gly)
c.276+16769T>C (n.276+16769T>C)
c.*220+5775A>G (n.*220+5775A>G)
c.391A>G (p.Ser131Gly)
c.418A>G (p.Ser140Gly)
c.1273A>G (p.Ser425Gly)
c.1087A>G (p.Ser363Gly)
c.1006A>G (p.Ser336Gly)
c.712A>G (p.Ser238Gly)
c.1093A>G (p.Ser365Gly)
2g.48688449T>GCA346747338GTF2A1L,LHCGR,STON1-GTF2A1Lc.1348A>C (p.Ser450Arg)
c.948-310A>C (n.948-310A>C)
c.3441+16769T>G (n.3441+16769T>G)
c.*92A>C (n.*92A>C)
c.1267A>C (p.Ser423Arg)
c.276+16769T>G (n.276+16769T>G)
c.*220+5775A>C (n.*220+5775A>C)
c.391A>C (p.Ser131Arg)
c.418A>C (p.Ser140Arg)
c.1273A>C (p.Ser425Arg)
c.1087A>C (p.Ser363Arg)
c.1006A>C (p.Ser336Arg)
c.712A>C (p.Ser238Arg)
c.1093A>C (p.Ser365Arg)
2g.48688450T>ACA426125383GTF2A1L,LHCGR,STON1-GTF2A1Lc.1347A>T (p.Ala449=)
c.948-311A>T (n.948-311A>T)
c.3441+16770T>A (n.3441+16770T>A)
c.*91A>T (n.*91A>T)
c.1266A>T (p.Ala422=)
c.276+16770T>A (n.276+16770T>A)
c.*220+5774A>T (n.*220+5774A>T)
c.390A>T (p.Ala130=)
c.417A>T (p.Ala139=)
c.1272A>T (p.Ala424=)
c.1086A>T (p.Ala362=)
c.1005A>T (p.Ala335=)
c.711A>T (p.Ala237=)
c.1092A>T (p.Ala364=)
2g.48688450T>CCA426125387GTF2A1L,LHCGR,STON1-GTF2A1Lc.1347A>G (p.Ala449=)
c.948-311A>G (n.948-311A>G)
c.3441+16770T>C (n.3441+16770T>C)
c.*91A>G (n.*91A>G)
c.1266A>G (p.Ala422=)
c.276+16770T>C (n.276+16770T>C)
c.*220+5774A>G (n.*220+5774A>G)
c.390A>G (p.Ala130=)
c.417A>G (p.Ala139=)
c.1272A>G (p.Ala424=)
c.1086A>G (p.Ala362=)
c.1005A>G (p.Ala335=)
c.711A>G (p.Ala237=)
c.1092A>G (p.Ala364=)

Number of alleles fetched