Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.48688438A>C | CA426125350 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688438A>G | CA426125353 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688438A>T | CA426125355 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688439G>A | CA346747274 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688439G>C | CA346747276 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688439G>T | CA346747278 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688440A= | CA1248601134 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688440A>C | CA346747281 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688440A>G | CA346747283 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688440A>T | CA346747285 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688441A>C | CA426125359 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688441A>G | CA426125360 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688441A>T | CA426125361 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688442A>C | CA346747292 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688442A>G | CA346747290 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688442A>T | CA346747287 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688443G>A | CA346747295 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688443G>C | CA346747301 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688443G>T | CA346747302 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688444T>A | CA346747305 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688444T>C | CA426125368 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688444T>G | CA346747307 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688444T= | CA1248601135 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688445T>A | CA346747310 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688445T>C | CA346747312 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688445T>G | CA346747318 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688446C>A | CA346747320 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688446C= | CA1248601136 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688446C>G | CA346747321 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688446C>T | CA346747323 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688447A>C | CA346747326 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688447A>G | CA426125376 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688447A>T | CA346747328 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688448C>A | CA346747331 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688448C= | CA1248601137 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688448C>G | CA1653042 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688448C>T | CA1653043 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688449T>A | CA346747336 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688449T>C | CA346747334 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688449T>G | CA346747338 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688450T>A | CA426125383 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688450T>C | CA426125387 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688450T>G | CA426125385 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1347A>C (p.Ala449=) c.948-311A>C (n.948-311A>C) c.3441+16770T>G (n.3441+16770T>G) c.*91A>C (n.*91A>C) c.1266A>C (p.Ala422=) c.276+16770T>G (n.276+16770T>G) c.*220+5774A>C (n.*220+5774A>C) c.390A>C (p.Ala130=) c.417A>C (p.Ala139=) c.1272A>C (p.Ala424=) c.1086A>C (p.Ala362=) c.1005A>C (p.Ala335=) c.711A>C (p.Ala237=) c.1092A>C (p.Ala364=) | |
2 | g.48688451G>A | CA346747341 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1346C>T (p.Ala449Val) c.948-312C>T (n.948-312C>T) c.3441+16771G>A (n.3441+16771G>A) c.*90C>T (n.*90C>T) c.1265C>T (p.Ala422Val) c.276+16771G>A (n.276+16771G>A) c.*220+5773C>T (n.*220+5773C>T) c.389C>T (p.Ala130Val) c.416C>T (p.Ala139Val) c.1271C>T (p.Ala424Val) c.1085C>T (p.Ala362Val) c.1004C>T (p.Ala335Val) c.710C>T (p.Ala237Val) c.1091C>T (p.Ala364Val) | |
2 | g.48688451G>C | CA346747344 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1346C>G (p.Ala449Gly) c.948-312C>G (n.948-312C>G) c.3441+16771G>C (n.3441+16771G>C) c.*90C>G (n.*90C>G) c.1265C>G (p.Ala422Gly) c.276+16771G>C (n.276+16771G>C) c.*220+5773C>G (n.*220+5773C>G) c.389C>G (p.Ala130Gly) c.416C>G (p.Ala139Gly) c.1271C>G (p.Ala424Gly) c.1085C>G (p.Ala362Gly) c.1004C>G (p.Ala335Gly) c.710C>G (p.Ala237Gly) c.1091C>G (p.Ala364Gly) | |
2 | g.48688451G>T | CA346747346 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1346C>A (p.Ala449Glu) c.948-312C>A (n.948-312C>A) c.3441+16771G>T (n.3441+16771G>T) c.*90C>A (n.*90C>A) c.1265C>A (p.Ala422Glu) c.276+16771G>T (n.276+16771G>T) c.*220+5773C>A (n.*220+5773C>A) c.389C>A (p.Ala130Glu) c.416C>A (p.Ala139Glu) c.1271C>A (p.Ala424Glu) c.1085C>A (p.Ala362Glu) c.1004C>A (p.Ala335Glu) c.710C>A (p.Ala237Glu) c.1091C>A (p.Ala364Glu) | |
2 | g.48688452C>A | CA346747347 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1345G>T (p.Ala449Ser) c.948-313G>T (n.948-313G>T) c.3441+16772C>A (n.3441+16772C>A) c.*89G>T (n.*89G>T) c.1264G>T (p.Ala422Ser) c.276+16772C>A (n.276+16772C>A) c.*220+5772G>T (n.*220+5772G>T) c.388G>T (p.Ala130Ser) c.415G>T (p.Ala139Ser) c.1270G>T (p.Ala424Ser) c.1084G>T (p.Ala362Ser) c.1003G>T (p.Ala335Ser) c.709G>T (p.Ala237Ser) c.1090G>T (p.Ala364Ser) | |
2 | g.48688452C= | CA1248601138 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1345G= (p.Ala449=) c.948-313G= (n.948-313G=) c.3441+16772C= (n.3441+16772C=) c.*89G= (n.*89G=) c.1264G= (p.Ala422=) c.276+16772C= (n.276+16772C=) c.*220+5772G= (n.*220+5772G=) c.388G= (p.Ala130=) c.415G= (p.Ala139=) c.1270G= (p.Ala424=) c.1084G= (p.Ala362=) c.1003G= (p.Ala335=) c.709G= (p.Ala237=) c.1090G= (p.Ala364=) | |
2 | g.48688452C>G | CA346747349 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1345G>C (p.Ala449Pro) c.948-313G>C (n.948-313G>C) c.3441+16772C>G (n.3441+16772C>G) c.*89G>C (n.*89G>C) c.1264G>C (p.Ala422Pro) c.276+16772C>G (n.276+16772C>G) c.*220+5772G>C (n.*220+5772G>C) c.388G>C (p.Ala130Pro) c.415G>C (p.Ala139Pro) c.1270G>C (p.Ala424Pro) c.1084G>C (p.Ala362Pro) c.1003G>C (p.Ala335Pro) c.709G>C (p.Ala237Pro) c.1090G>C (p.Ala364Pro) | |
2 | g.48688452C>T | CA1653044 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1345G>A (p.Ala449Thr) c.948-313G>A (n.948-313G>A) c.3441+16772C>T (n.3441+16772C>T) c.*89G>A (n.*89G>A) c.1264G>A (p.Ala422Thr) c.276+16772C>T (n.276+16772C>T) c.*220+5772G>A (n.*220+5772G>A) c.388G>A (p.Ala130Thr) c.415G>A (p.Ala139Thr) c.1270G>A (p.Ala424Thr) c.1084G>A (p.Ala362Thr) c.1003G>A (p.Ala335Thr) c.709G>A (p.Ala237Thr) c.1090G>A (p.Ala364Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |