Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)
2g.48688450T>GCA426125385GTF2A1L,LHCGR,STON1-GTF2A1Lc.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=)
2g.48688451G>ACA346747341GTF2A1L,LHCGR,STON1-GTF2A1Lc.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)
2g.48688451G>CCA346747344GTF2A1L,LHCGR,STON1-GTF2A1Lc.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)
2g.48688451G>TCA346747346GTF2A1L,LHCGR,STON1-GTF2A1Lc.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)
2g.48688452C>ACA346747347GTF2A1L,LHCGR,STON1-GTF2A1Lc.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)
2g.48688452C=CA1248601138GTF2A1L,LHCGR,STON1-GTF2A1Lc.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=)
2g.48688452C>GCA346747349GTF2A1L,LHCGR,STON1-GTF2A1Lc.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)
2g.48688452C>TCA1653044GTF2A1L,LHCGR,STON1-GTF2A1Lc.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
2g.48688453G>ACA1653045GTF2A1L,LHCGR,STON1-GTF2A1Lc.1344C>T (p.Phe448=)
c.948-314C>T (n.948-314C>T)
c.3441+16773G>A (n.3441+16773G>A)
c.*88C>T (n.*88C>T)
c.1263C>T (p.Phe421=)
c.276+16773G>A (n.276+16773G>A)
c.*220+5771C>T (n.*220+5771C>T)
c.387C>T (p.Phe129=)
c.414C>T (p.Phe138=)
c.1269C>T (p.Phe423=)
c.1083C>T (p.Phe361=)
c.1002C>T (p.Phe334=)
c.708C>T (p.Phe236=)
c.1089C>T (p.Phe363=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.48688453G>CCA346747357GTF2A1L,LHCGR,STON1-GTF2A1Lc.1344C>G (p.Phe448Leu)
c.948-314C>G (n.948-314C>G)
c.3441+16773G>C (n.3441+16773G>C)
c.*88C>G (n.*88C>G)
c.1263C>G (p.Phe421Leu)
c.276+16773G>C (n.276+16773G>C)
c.*220+5771C>G (n.*220+5771C>G)
c.387C>G (p.Phe129Leu)
c.414C>G (p.Phe138Leu)
c.1269C>G (p.Phe423Leu)
c.1083C>G (p.Phe361Leu)
c.1002C>G (p.Phe334Leu)
c.708C>G (p.Phe236Leu)
c.1089C>G (p.Phe363Leu)
 gnomAD v4
2g.48688453G=CA1248601139GTF2A1L,LHCGR,STON1-GTF2A1Lc.1344C= (p.Phe448=)
c.948-314C= (n.948-314C=)
c.3441+16773G= (n.3441+16773G=)
c.*88C= (n.*88C=)
c.1263C= (p.Phe421=)
c.276+16773G= (n.276+16773G=)
c.*220+5771C= (n.*220+5771C=)
c.387C= (p.Phe129=)
c.414C= (p.Phe138=)
c.1269C= (p.Phe423=)
c.1083C= (p.Phe361=)
c.1002C= (p.Phe334=)
c.708C= (p.Phe236=)
c.1089C= (p.Phe363=)
2g.48688453G>TCA346747362GTF2A1L,LHCGR,STON1-GTF2A1Lc.1344C>A (p.Phe448Leu)
c.948-314C>A (n.948-314C>A)
c.3441+16773G>T (n.3441+16773G>T)
c.*88C>A (n.*88C>A)
c.1263C>A (p.Phe421Leu)
c.276+16773G>T (n.276+16773G>T)
c.*220+5771C>A (n.*220+5771C>A)
c.387C>A (p.Phe129Leu)
c.414C>A (p.Phe138Leu)
c.1269C>A (p.Phe423Leu)
c.1083C>A (p.Phe361Leu)
c.1002C>A (p.Phe334Leu)
c.708C>A (p.Phe236Leu)
c.1089C>A (p.Phe363Leu)
2g.48688454A>CCA346747364GTF2A1L,LHCGR,STON1-GTF2A1Lc.1343T>G (p.Phe448Cys)
c.948-315T>G (n.948-315T>G)
c.3441+16774A>C (n.3441+16774A>C)
c.*87T>G (n.*87T>G)
c.1262T>G (p.Phe421Cys)
c.276+16774A>C (n.276+16774A>C)
c.*220+5770T>G (n.*220+5770T>G)
c.386T>G (p.Phe129Cys)
c.413T>G (p.Phe138Cys)
c.1268T>G (p.Phe423Cys)
c.1082T>G (p.Phe361Cys)
c.1001T>G (p.Phe334Cys)
c.707T>G (p.Phe236Cys)
c.1088T>G (p.Phe363Cys)
2g.48688454A>GCA346747366GTF2A1L,LHCGR,STON1-GTF2A1Lc.1343T>C (p.Phe448Ser)
c.948-315T>C (n.948-315T>C)
c.3441+16774A>G (n.3441+16774A>G)
c.*87T>C (n.*87T>C)
c.1262T>C (p.Phe421Ser)
c.276+16774A>G (n.276+16774A>G)
c.*220+5770T>C (n.*220+5770T>C)
c.386T>C (p.Phe129Ser)
c.413T>C (p.Phe138Ser)
c.1268T>C (p.Phe423Ser)
c.1082T>C (p.Phe361Ser)
c.1001T>C (p.Phe334Ser)
c.707T>C (p.Phe236Ser)
c.1088T>C (p.Phe363Ser)
2g.48688454A>TCA346747368GTF2A1L,LHCGR,STON1-GTF2A1Lc.1343T>A (p.Phe448Tyr)
c.948-315T>A (n.948-315T>A)
c.3441+16774A>T (n.3441+16774A>T)
c.*87T>A (n.*87T>A)
c.1262T>A (p.Phe421Tyr)
c.276+16774A>T (n.276+16774A>T)
c.*220+5770T>A (n.*220+5770T>A)
c.386T>A (p.Phe129Tyr)
c.413T>A (p.Phe138Tyr)
c.1268T>A (p.Phe423Tyr)
c.1082T>A (p.Phe361Tyr)
c.1001T>A (p.Phe334Tyr)
c.707T>A (p.Phe236Tyr)
c.1088T>A (p.Phe363Tyr)
2g.48688455A=CA1248601140GTF2A1L,LHCGR,STON1-GTF2A1Lc.1342T= (p.Phe448=)
c.948-316T= (n.948-316T=)
c.3441+16775A= (n.3441+16775A=)
c.*86T= (n.*86T=)
c.1261T= (p.Phe421=)
c.276+16775A= (n.276+16775A=)
c.*220+5769T= (n.*220+5769T=)
c.385T= (p.Phe129=)
c.412T= (p.Phe138=)
c.1267T= (p.Phe423=)
c.1081T= (p.Phe361=)
c.1000T= (p.Phe334=)
c.706T= (p.Phe236=)
c.1087T= (p.Phe363=)
2g.48688455A>CCA346747374GTF2A1L,LHCGR,STON1-GTF2A1Lc.1342T>G (p.Phe448Val)
c.948-316T>G (n.948-316T>G)
c.3441+16775A>C (n.3441+16775A>C)
c.*86T>G (n.*86T>G)
c.1261T>G (p.Phe421Val)
c.276+16775A>C (n.276+16775A>C)
c.*220+5769T>G (n.*220+5769T>G)
c.385T>G (p.Phe129Val)
c.412T>G (p.Phe138Val)
c.1267T>G (p.Phe423Val)
c.1081T>G (p.Phe361Val)
c.1000T>G (p.Phe334Val)
c.706T>G (p.Phe236Val)
c.1087T>G (p.Phe363Val)
2g.48688455A>GCA346747372GTF2A1L,LHCGR,STON1-GTF2A1Lc.1342T>C (p.Phe448Leu)
c.948-316T>C (n.948-316T>C)
c.3441+16775A>G (n.3441+16775A>G)
c.*86T>C (n.*86T>C)
c.1261T>C (p.Phe421Leu)
c.276+16775A>G (n.276+16775A>G)
c.*220+5769T>C (n.*220+5769T>C)
c.385T>C (p.Phe129Leu)
c.412T>C (p.Phe138Leu)
c.1267T>C (p.Phe423Leu)
c.1081T>C (p.Phe361Leu)
c.1000T>C (p.Phe334Leu)
c.706T>C (p.Phe236Leu)
c.1087T>C (p.Phe363Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.48688455A>TCA346747373GTF2A1L,LHCGR,STON1-GTF2A1Lc.1342T>A (p.Phe448Ile)
c.948-316T>A (n.948-316T>A)
c.3441+16775A>T (n.3441+16775A>T)
c.*86T>A (n.*86T>A)
c.1261T>A (p.Phe421Ile)
c.276+16775A>T (n.276+16775A>T)
c.*220+5769T>A (n.*220+5769T>A)
c.385T>A (p.Phe129Ile)
c.412T>A (p.Phe138Ile)
c.1267T>A (p.Phe423Ile)
c.1081T>A (p.Phe361Ile)
c.1000T>A (p.Phe334Ile)
c.706T>A (p.Phe236Ile)
c.1087T>A (p.Phe363Ile)
2g.48688456T>ACA426125413GTF2A1L,LHCGR,STON1-GTF2A1Lc.1341A>T (p.Val447=)
c.948-317A>T (n.948-317A>T)
c.3441+16776T>A (n.3441+16776T>A)
c.*85A>T (n.*85A>T)
c.1260A>T (p.Val420=)
c.276+16776T>A (n.276+16776T>A)
c.*220+5768A>T (n.*220+5768A>T)
c.384A>T (p.Val128=)
c.411A>T (p.Val137=)
c.1266A>T (p.Val422=)
c.1080A>T (p.Val360=)
c.999A>T (p.Val333=)
c.705A>T (p.Val235=)
c.1086A>T (p.Val362=)
2g.48688456T>CCA426125417GTF2A1L,LHCGR,STON1-GTF2A1Lc.1341A>G (p.Val447=)
c.948-317A>G (n.948-317A>G)
c.3441+16776T>C (n.3441+16776T>C)
c.*85A>G (n.*85A>G)
c.1260A>G (p.Val420=)
c.276+16776T>C (n.276+16776T>C)
c.*220+5768A>G (n.*220+5768A>G)
c.384A>G (p.Val128=)
c.411A>G (p.Val137=)
c.1266A>G (p.Val422=)
c.1080A>G (p.Val360=)
c.999A>G (p.Val333=)
c.705A>G (p.Val235=)
c.1086A>G (p.Val362=)
2g.48688456T>GCA426125419GTF2A1L,LHCGR,STON1-GTF2A1Lc.1341A>C (p.Val447=)
c.948-317A>C (n.948-317A>C)
c.3441+16776T>G (n.3441+16776T>G)
c.*85A>C (n.*85A>C)
c.1260A>C (p.Val420=)
c.276+16776T>G (n.276+16776T>G)
c.*220+5768A>C (n.*220+5768A>C)
c.384A>C (p.Val128=)
c.411A>C (p.Val137=)
c.1266A>C (p.Val422=)
c.1080A>C (p.Val360=)
c.999A>C (p.Val333=)
c.705A>C (p.Val235=)
c.1086A>C (p.Val362=)
2g.48688457A>CCA346747377GTF2A1L,LHCGR,STON1-GTF2A1Lc.1340T>G (p.Val447Gly)
c.948-318T>G (n.948-318T>G)
c.3441+16777A>C (n.3441+16777A>C)
c.*84T>G (n.*84T>G)
c.1259T>G (p.Val420Gly)
c.276+16777A>C (n.276+16777A>C)
c.*220+5767T>G (n.*220+5767T>G)
c.383T>G (p.Val128Gly)
c.410T>G (p.Val137Gly)
c.1265T>G (p.Val422Gly)
c.1079T>G (p.Val360Gly)
c.998T>G (p.Val333Gly)
c.704T>G (p.Val235Gly)
c.1085T>G (p.Val362Gly)
2g.48688457A>GCA346747379GTF2A1L,LHCGR,STON1-GTF2A1Lc.1340T>C (p.Val447Ala)
c.948-318T>C (n.948-318T>C)
c.3441+16777A>G (n.3441+16777A>G)
c.*84T>C (n.*84T>C)
c.1259T>C (p.Val420Ala)
c.276+16777A>G (n.276+16777A>G)
c.*220+5767T>C (n.*220+5767T>C)
c.383T>C (p.Val128Ala)
c.410T>C (p.Val137Ala)
c.1265T>C (p.Val422Ala)
c.1079T>C (p.Val360Ala)
c.998T>C (p.Val333Ala)
c.704T>C (p.Val235Ala)
c.1085T>C (p.Val362Ala)
2g.48688457A>TCA346747380GTF2A1L,LHCGR,STON1-GTF2A1Lc.1340T>A (p.Val447Glu)
c.948-318T>A (n.948-318T>A)
c.3441+16777A>T (n.3441+16777A>T)
c.*84T>A (n.*84T>A)
c.1259T>A (p.Val420Glu)
c.276+16777A>T (n.276+16777A>T)
c.*220+5767T>A (n.*220+5767T>A)
c.383T>A (p.Val128Glu)
c.410T>A (p.Val137Glu)
c.1265T>A (p.Val422Glu)
c.1079T>A (p.Val360Glu)
c.998T>A (p.Val333Glu)
c.704T>A (p.Val235Glu)
c.1085T>A (p.Val362Glu)
2g.48688458C>ACA346747382GTF2A1L,LHCGR,STON1-GTF2A1Lc.1339G>T (p.Val447Leu)
c.948-319G>T (n.948-319G>T)
c.3441+16778C>A (n.3441+16778C>A)
c.*83G>T (n.*83G>T)
c.1258G>T (p.Val420Leu)
c.276+16778C>A (n.276+16778C>A)
c.*220+5766G>T (n.*220+5766G>T)
c.382G>T (p.Val128Leu)
c.409G>T (p.Val137Leu)
c.1264G>T (p.Val422Leu)
c.1078G>T (p.Val360Leu)
c.997G>T (p.Val333Leu)
c.703G>T (p.Val235Leu)
c.1084G>T (p.Val362Leu)
2g.48688458C=CA1248601141GTF2A1L,LHCGR,STON1-GTF2A1Lc.1339G= (p.Val447=)
c.948-319G= (n.948-319G=)
c.3441+16778C= (n.3441+16778C=)
c.*83G= (n.*83G=)
c.1258G= (p.Val420=)
c.276+16778C= (n.276+16778C=)
c.*220+5766G= (n.*220+5766G=)
c.382G= (p.Val128=)
c.409G= (p.Val137=)
c.1264G= (p.Val422=)
c.1078G= (p.Val360=)
c.997G= (p.Val333=)
c.703G= (p.Val235=)
c.1084G= (p.Val362=)
2g.48688458C>GCA346747385GTF2A1L,LHCGR,STON1-GTF2A1Lc.1339G>C (p.Val447Leu)
c.948-319G>C (n.948-319G>C)
c.3441+16778C>G (n.3441+16778C>G)
c.*83G>C (n.*83G>C)
c.1258G>C (p.Val420Leu)
c.276+16778C>G (n.276+16778C>G)
c.*220+5766G>C (n.*220+5766G>C)
c.382G>C (p.Val128Leu)
c.409G>C (p.Val137Leu)
c.1264G>C (p.Val422Leu)
c.1078G>C (p.Val360Leu)
c.997G>C (p.Val333Leu)
c.703G>C (p.Val235Leu)
c.1084G>C (p.Val362Leu)
2g.48688458C>TCA346747386GTF2A1L,LHCGR,STON1-GTF2A1Lc.1339G>A (p.Val447Ile)
c.948-319G>A (n.948-319G>A)
c.3441+16778C>T (n.3441+16778C>T)
c.*83G>A (n.*83G>A)
c.1258G>A (p.Val420Ile)
c.276+16778C>T (n.276+16778C>T)
c.*220+5766G>A (n.*220+5766G>A)
c.382G>A (p.Val128Ile)
c.409G>A (p.Val137Ile)
c.1264G>A (p.Val422Ile)
c.1078G>A (p.Val360Ile)
c.997G>A (p.Val333Ile)
c.703G>A (p.Val235Ile)
c.1084G>A (p.Val362Ile)
 dbSNP gnomAD v4
2g.48688459A>CCA426125426GTF2A1L,LHCGR,STON1-GTF2A1Lc.1338T>G (p.Thr446=)
c.948-320T>G (n.948-320T>G)
c.3441+16779A>C (n.3441+16779A>C)
c.*82T>G (n.*82T>G)
c.1257T>G (p.Thr419=)
c.276+16779A>C (n.276+16779A>C)
c.*220+5765T>G (n.*220+5765T>G)
c.381T>G (p.Thr127=)
c.408T>G (p.Thr136=)
c.1263T>G (p.Thr421=)
c.1077T>G (p.Thr359=)
c.996T>G (p.Thr332=)
c.702T>G (p.Thr234=)
c.1083T>G (p.Thr361=)
2g.48688459A>GCA426125427GTF2A1L,LHCGR,STON1-GTF2A1Lc.1338T>C (p.Thr446=)
c.948-320T>C (n.948-320T>C)
c.3441+16779A>G (n.3441+16779A>G)
c.*82T>C (n.*82T>C)
c.1257T>C (p.Thr419=)
c.276+16779A>G (n.276+16779A>G)
c.*220+5765T>C (n.*220+5765T>C)
c.381T>C (p.Thr127=)
c.408T>C (p.Thr136=)
c.1263T>C (p.Thr421=)
c.1077T>C (p.Thr359=)
c.996T>C (p.Thr332=)
c.702T>C (p.Thr234=)
c.1083T>C (p.Thr361=)
2g.48688459A>TCA426125428GTF2A1L,LHCGR,STON1-GTF2A1Lc.1338T>A (p.Thr446=)
c.948-320T>A (n.948-320T>A)
c.3441+16779A>T (n.3441+16779A>T)
c.*82T>A (n.*82T>A)
c.1257T>A (p.Thr419=)
c.276+16779A>T (n.276+16779A>T)
c.*220+5765T>A (n.*220+5765T>A)
c.381T>A (p.Thr127=)
c.408T>A (p.Thr136=)
c.1263T>A (p.Thr421=)
c.1077T>A (p.Thr359=)
c.996T>A (p.Thr332=)
c.702T>A (p.Thr234=)
c.1083T>A (p.Thr361=)
2g.48688460G>ACA346747388GTF2A1L,LHCGR,STON1-GTF2A1Lc.1337C>T (p.Thr446Ile)
c.948-321C>T (n.948-321C>T)
c.3441+16780G>A (n.3441+16780G>A)
c.*81C>T (n.*81C>T)
c.1256C>T (p.Thr419Ile)
c.276+16780G>A (n.276+16780G>A)
c.*220+5764C>T (n.*220+5764C>T)
c.380C>T (p.Thr127Ile)
c.407C>T (p.Thr136Ile)
c.1262C>T (p.Thr421Ile)
c.1076C>T (p.Thr359Ile)
c.995C>T (p.Thr332Ile)
c.701C>T (p.Thr234Ile)
c.1082C>T (p.Thr361Ile)
2g.48688460G>CCA46753025GTF2A1L,LHCGR,STON1-GTF2A1Lc.1337C>G (p.Thr446Ser)
c.948-321C>G (n.948-321C>G)
c.3441+16780G>C (n.3441+16780G>C)
c.*81C>G (n.*81C>G)
c.1256C>G (p.Thr419Ser)
c.276+16780G>C (n.276+16780G>C)
c.*220+5764C>G (n.*220+5764C>G)
c.380C>G (p.Thr127Ser)
c.407C>G (p.Thr136Ser)
c.1262C>G (p.Thr421Ser)
c.1076C>G (p.Thr359Ser)
c.995C>G (p.Thr332Ser)
c.701C>G (p.Thr234Ser)
c.1082C>G (p.Thr361Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.48688460G=CA1248601142GTF2A1L,LHCGR,STON1-GTF2A1Lc.1337C= (p.Thr446=)
c.948-321C= (n.948-321C=)
c.3441+16780G= (n.3441+16780G=)
c.*81C= (n.*81C=)
c.1256C= (p.Thr419=)
c.276+16780G= (n.276+16780G=)
c.*220+5764C= (n.*220+5764C=)
c.380C= (p.Thr127=)
c.407C= (p.Thr136=)
c.1262C= (p.Thr421=)
c.1076C= (p.Thr359=)
c.995C= (p.Thr332=)
c.701C= (p.Thr234=)
c.1082C= (p.Thr361=)
2g.48688460G>TCA346747397GTF2A1L,LHCGR,STON1-GTF2A1Lc.1337C>A (p.Thr446Asn)
c.948-321C>A (n.948-321C>A)
c.3441+16780G>T (n.3441+16780G>T)
c.*81C>A (n.*81C>A)
c.1256C>A (p.Thr419Asn)
c.276+16780G>T (n.276+16780G>T)
c.*220+5764C>A (n.*220+5764C>A)
c.380C>A (p.Thr127Asn)
c.407C>A (p.Thr136Asn)
c.1262C>A (p.Thr421Asn)
c.1076C>A (p.Thr359Asn)
c.995C>A (p.Thr332Asn)
c.701C>A (p.Thr234Asn)
c.1082C>A (p.Thr361Asn)
 COSMIC
2g.48688461T>ACA346747399GTF2A1L,LHCGR,STON1-GTF2A1Lc.1336A>T (p.Thr446Ser)
c.948-322A>T (n.948-322A>T)
c.3441+16781T>A (n.3441+16781T>A)
c.*80A>T (n.*80A>T)
c.1255A>T (p.Thr419Ser)
c.276+16781T>A (n.276+16781T>A)
c.*220+5763A>T (n.*220+5763A>T)
c.379A>T (p.Thr127Ser)
c.406A>T (p.Thr136Ser)
c.1261A>T (p.Thr421Ser)
c.1075A>T (p.Thr359Ser)
c.994A>T (p.Thr332Ser)
c.700A>T (p.Thr234Ser)
c.1081A>T (p.Thr361Ser)
2g.48688461T>CCA346747402GTF2A1L,LHCGR,STON1-GTF2A1Lc.1336A>G (p.Thr446Ala)
c.948-322A>G (n.948-322A>G)
c.3441+16781T>C (n.3441+16781T>C)
c.*80A>G (n.*80A>G)
c.1255A>G (p.Thr419Ala)
c.276+16781T>C (n.276+16781T>C)
c.*220+5763A>G (n.*220+5763A>G)
c.379A>G (p.Thr127Ala)
c.406A>G (p.Thr136Ala)
c.1261A>G (p.Thr421Ala)
c.1075A>G (p.Thr359Ala)
c.994A>G (p.Thr332Ala)
c.700A>G (p.Thr234Ala)
c.1081A>G (p.Thr361Ala)
2g.48688461T>GCA346747403GTF2A1L,LHCGR,STON1-GTF2A1Lc.1336A>C (p.Thr446Pro)
c.948-322A>C (n.948-322A>C)
c.3441+16781T>G (n.3441+16781T>G)
c.*80A>C (n.*80A>C)
c.1255A>C (p.Thr419Pro)
c.276+16781T>G (n.276+16781T>G)
c.*220+5763A>C (n.*220+5763A>C)
c.379A>C (p.Thr127Pro)
c.406A>C (p.Thr136Pro)
c.1261A>C (p.Thr421Pro)
c.1075A>C (p.Thr359Pro)
c.994A>C (p.Thr332Pro)
c.700A>C (p.Thr234Pro)
c.1081A>C (p.Thr361Pro)
2g.48688461T=CA1248601143GTF2A1L,LHCGR,STON1-GTF2A1Lc.1336A= (p.Thr446=)
c.948-322A= (n.948-322A=)
c.3441+16781T= (n.3441+16781T=)
c.*80A= (n.*80A=)
c.1255A= (p.Thr419=)
c.276+16781T= (n.276+16781T=)
c.*220+5763A= (n.*220+5763A=)
c.379A= (p.Thr127=)
c.406A= (p.Thr136=)
c.1261A= (p.Thr421=)
c.1075A= (p.Thr359=)
c.994A= (p.Thr332=)
c.700A= (p.Thr234=)
c.1081A= (p.Thr361=)
2g.48688462G>ACA426125433GTF2A1L,LHCGR,STON1-GTF2A1Lc.1335C>T (p.Phe445=)
c.948-323C>T (n.948-323C>T)
c.3441+16782G>A (n.3441+16782G>A)
c.*79C>T (n.*79C>T)
c.1254C>T (p.Phe418=)
c.276+16782G>A (n.276+16782G>A)
c.*220+5762C>T (n.*220+5762C>T)
c.378C>T (p.Phe126=)
c.405C>T (p.Phe135=)
c.1260C>T (p.Phe420=)
c.1074C>T (p.Phe358=)
c.993C>T (p.Phe331=)
c.699C>T (p.Phe233=)
c.1080C>T (p.Phe360=)
 gnomAD v4
2g.48688462G>CCA346747409GTF2A1L,LHCGR,STON1-GTF2A1Lc.1335C>G (p.Phe445Leu)
c.948-323C>G (n.948-323C>G)
c.3441+16782G>C (n.3441+16782G>C)
c.*79C>G (n.*79C>G)
c.1254C>G (p.Phe418Leu)
c.276+16782G>C (n.276+16782G>C)
c.*220+5762C>G (n.*220+5762C>G)
c.378C>G (p.Phe126Leu)
c.405C>G (p.Phe135Leu)
c.1260C>G (p.Phe420Leu)
c.1074C>G (p.Phe358Leu)
c.993C>G (p.Phe331Leu)
c.699C>G (p.Phe233Leu)
c.1080C>G (p.Phe360Leu)
2g.48688462G>TCA346747406GTF2A1L,LHCGR,STON1-GTF2A1Lc.1335C>A (p.Phe445Leu)
c.948-323C>A (n.948-323C>A)
c.3441+16782G>T (n.3441+16782G>T)
c.*79C>A (n.*79C>A)
c.1254C>A (p.Phe418Leu)
c.276+16782G>T (n.276+16782G>T)
c.*220+5762C>A (n.*220+5762C>A)
c.378C>A (p.Phe126Leu)
c.405C>A (p.Phe135Leu)
c.1260C>A (p.Phe420Leu)
c.1074C>A (p.Phe358Leu)
c.993C>A (p.Phe331Leu)
c.699C>A (p.Phe233Leu)
c.1080C>A (p.Phe360Leu)
2g.48688462dupCA532706166GTF2A1L,LHCGR,STON1-GTF2A1Lc.1335dup (p.Thr446HisfsTer6)
c.948-323dup (n.948-323dup)
c.3441+16782dup (n.3441+16782dup)
c.*79dup (n.*79dup)
c.1254dup (p.Thr419HisfsTer6)
c.276+16782dup (n.276+16782dup)
c.*220+5762dup (n.*220+5762dup)
c.378dup (p.Thr127HisfsTer6)
c.405dup (p.Thr136HisfsTer6)
c.1260dup (p.Thr421HisfsTer6)
c.1074dup (p.Thr359HisfsTer6)
c.993dup (p.Thr332HisfsTer6)
c.699dup (p.Thr234HisfsTer6)
c.1080dup (p.Thr361HisfsTer6)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48688463A=CA1248601144GTF2A1L,LHCGR,STON1-GTF2A1Lc.1334T= (p.Phe445=)
c.948-324T= (n.948-324T=)
c.3441+16783A= (n.3441+16783A=)
c.*78T= (n.*78T=)
c.1253T= (p.Phe418=)
c.276+16783A= (n.276+16783A=)
c.*220+5761T= (n.*220+5761T=)
c.377T= (p.Phe126=)
c.404T= (p.Phe135=)
c.1259T= (p.Phe420=)
c.1073T= (p.Phe358=)
c.992T= (p.Phe331=)
c.698T= (p.Phe233=)
c.1079T= (p.Phe360=)
2g.48688463A>CCA346747412GTF2A1L,LHCGR,STON1-GTF2A1Lc.1334T>G (p.Phe445Cys)
c.948-324T>G (n.948-324T>G)
c.3441+16783A>C (n.3441+16783A>C)
c.*78T>G (n.*78T>G)
c.1253T>G (p.Phe418Cys)
c.276+16783A>C (n.276+16783A>C)
c.*220+5761T>G (n.*220+5761T>G)
c.377T>G (p.Phe126Cys)
c.404T>G (p.Phe135Cys)
c.1259T>G (p.Phe420Cys)
c.1073T>G (p.Phe358Cys)
c.992T>G (p.Phe331Cys)
c.698T>G (p.Phe233Cys)
c.1079T>G (p.Phe360Cys)
 dbSNP
2g.48688463A>GCA346747414GTF2A1L,LHCGR,STON1-GTF2A1Lc.1334T>C (p.Phe445Ser)
c.948-324T>C (n.948-324T>C)
c.3441+16783A>G (n.3441+16783A>G)
c.*78T>C (n.*78T>C)
c.1253T>C (p.Phe418Ser)
c.276+16783A>G (n.276+16783A>G)
c.*220+5761T>C (n.*220+5761T>C)
c.377T>C (p.Phe126Ser)
c.404T>C (p.Phe135Ser)
c.1259T>C (p.Phe420Ser)
c.1073T>C (p.Phe358Ser)
c.992T>C (p.Phe331Ser)
c.698T>C (p.Phe233Ser)
c.1079T>C (p.Phe360Ser)
2g.48688463A>TCA346747416GTF2A1L,LHCGR,STON1-GTF2A1Lc.1334T>A (p.Phe445Tyr)
c.948-324T>A (n.948-324T>A)
c.3441+16783A>T (n.3441+16783A>T)
c.*78T>A (n.*78T>A)
c.1253T>A (p.Phe418Tyr)
c.276+16783A>T (n.276+16783A>T)
c.*220+5761T>A (n.*220+5761T>A)
c.377T>A (p.Phe126Tyr)
c.404T>A (p.Phe135Tyr)
c.1259T>A (p.Phe420Tyr)
c.1073T>A (p.Phe358Tyr)
c.992T>A (p.Phe331Tyr)
c.698T>A (p.Phe233Tyr)
c.1079T>A (p.Phe360Tyr)
2g.48688464A>CCA346747419GTF2A1L,LHCGR,STON1-GTF2A1Lc.1333T>G (p.Phe445Val)
c.948-325T>G (n.948-325T>G)
c.3441+16784A>C (n.3441+16784A>C)
c.*77T>G (n.*77T>G)
c.1252T>G (p.Phe418Val)
c.276+16784A>C (n.276+16784A>C)
c.*220+5760T>G (n.*220+5760T>G)
c.376T>G (p.Phe126Val)
c.403T>G (p.Phe135Val)
c.1258T>G (p.Phe420Val)
c.1072T>G (p.Phe358Val)
c.991T>G (p.Phe331Val)
c.697T>G (p.Phe233Val)
c.1078T>G (p.Phe360Val)
2g.48688464A>GCA346747420GTF2A1L,LHCGR,STON1-GTF2A1Lc.1333T>C (p.Phe445Leu)
c.948-325T>C (n.948-325T>C)
c.3441+16784A>G (n.3441+16784A>G)
c.*77T>C (n.*77T>C)
c.1252T>C (p.Phe418Leu)
c.276+16784A>G (n.276+16784A>G)
c.*220+5760T>C (n.*220+5760T>C)
c.376T>C (p.Phe126Leu)
c.403T>C (p.Phe135Leu)
c.1258T>C (p.Phe420Leu)
c.1072T>C (p.Phe358Leu)
c.991T>C (p.Phe331Leu)
c.697T>C (p.Phe233Leu)
c.1078T>C (p.Phe360Leu)
 gnomAD v4
2g.48688464A>TCA346747422GTF2A1L,LHCGR,STON1-GTF2A1Lc.1333T>A (p.Phe445Ile)
c.948-325T>A (n.948-325T>A)
c.3441+16784A>T (n.3441+16784A>T)
c.*77T>A (n.*77T>A)
c.1252T>A (p.Phe418Ile)
c.276+16784A>T (n.276+16784A>T)
c.*220+5760T>A (n.*220+5760T>A)
c.376T>A (p.Phe126Ile)
c.403T>A (p.Phe135Ile)
c.1258T>A (p.Phe420Ile)
c.1072T>A (p.Phe358Ile)
c.991T>A (p.Phe331Ile)
c.697T>A (p.Phe233Ile)
c.1078T>A (p.Phe360Ile)
2g.48688465A>CCA346747426GTF2A1L,LHCGR,STON1-GTF2A1Lc.1332T>G (p.Phe444Leu)
c.948-326T>G (n.948-326T>G)
c.3441+16785A>C (n.3441+16785A>C)
c.*76T>G (n.*76T>G)
c.1251T>G (p.Phe417Leu)
c.276+16785A>C (n.276+16785A>C)
c.*220+5759T>G (n.*220+5759T>G)
c.375T>G (p.Phe125Leu)
c.402T>G (p.Phe134Leu)
c.1257T>G (p.Phe419Leu)
c.1071T>G (p.Phe357Leu)
c.990T>G (p.Phe330Leu)
c.696T>G (p.Phe232Leu)
c.1077T>G (p.Phe359Leu)
2g.48688465A>GCA426125441GTF2A1L,LHCGR,STON1-GTF2A1Lc.1332T>C (p.Phe444=)
c.948-326T>C (n.948-326T>C)
c.3441+16785A>G (n.3441+16785A>G)
c.*76T>C (n.*76T>C)
c.1251T>C (p.Phe417=)
c.276+16785A>G (n.276+16785A>G)
c.*220+5759T>C (n.*220+5759T>C)
c.375T>C (p.Phe125=)
c.402T>C (p.Phe134=)
c.1257T>C (p.Phe419=)
c.1071T>C (p.Phe357=)
c.990T>C (p.Phe330=)
c.696T>C (p.Phe232=)
c.1077T>C (p.Phe359=)
2g.48688465A>TCA346747424GTF2A1L,LHCGR,STON1-GTF2A1Lc.1332T>A (p.Phe444Leu)
c.948-326T>A (n.948-326T>A)
c.3441+16785A>T (n.3441+16785A>T)
c.*76T>A (n.*76T>A)
c.1251T>A (p.Phe417Leu)
c.276+16785A>T (n.276+16785A>T)
c.*220+5759T>A (n.*220+5759T>A)
c.375T>A (p.Phe125Leu)
c.402T>A (p.Phe134Leu)
c.1257T>A (p.Phe419Leu)
c.1071T>A (p.Phe357Leu)
c.990T>A (p.Phe330Leu)
c.696T>A (p.Phe232Leu)
c.1077T>A (p.Phe359Leu)
2g.48688466A>CCA346747429GTF2A1L,LHCGR,STON1-GTF2A1Lc.1331T>G (p.Phe444Cys)
c.948-327T>G (n.948-327T>G)
c.3441+16786A>C (n.3441+16786A>C)
c.*75T>G (n.*75T>G)
c.1250T>G (p.Phe417Cys)
c.276+16786A>C (n.276+16786A>C)
c.*220+5758T>G (n.*220+5758T>G)
c.374T>G (p.Phe125Cys)
c.401T>G (p.Phe134Cys)
c.1256T>G (p.Phe419Cys)
c.1070T>G (p.Phe357Cys)
c.989T>G (p.Phe330Cys)
c.695T>G (p.Phe232Cys)
c.1076T>G (p.Phe359Cys)
2g.48688466A>GCA346747432GTF2A1L,LHCGR,STON1-GTF2A1Lc.1331T>C (p.Phe444Ser)
c.948-327T>C (n.948-327T>C)
c.3441+16786A>G (n.3441+16786A>G)
c.*75T>C (n.*75T>C)
c.1250T>C (p.Phe417Ser)
c.276+16786A>G (n.276+16786A>G)
c.*220+5758T>C (n.*220+5758T>C)
c.374T>C (p.Phe125Ser)
c.401T>C (p.Phe134Ser)
c.1256T>C (p.Phe419Ser)
c.1070T>C (p.Phe357Ser)
c.989T>C (p.Phe330Ser)
c.695T>C (p.Phe232Ser)
c.1076T>C (p.Phe359Ser)
 gnomAD v4
2g.48688466A>TCA346747436GTF2A1L,LHCGR,STON1-GTF2A1Lc.1331T>A (p.Phe444Tyr)
c.948-327T>A (n.948-327T>A)
c.3441+16786A>T (n.3441+16786A>T)
c.*75T>A (n.*75T>A)
c.1250T>A (p.Phe417Tyr)
c.276+16786A>T (n.276+16786A>T)
c.*220+5758T>A (n.*220+5758T>A)
c.374T>A (p.Phe125Tyr)
c.401T>A (p.Phe134Tyr)
c.1256T>A (p.Phe419Tyr)
c.1070T>A (p.Phe357Tyr)
c.989T>A (p.Phe330Tyr)
c.695T>A (p.Phe232Tyr)
c.1076T>A (p.Phe359Tyr)
2g.48688467A>CCA346747437GTF2A1L,LHCGR,STON1-GTF2A1Lc.1330T>G (p.Phe444Val)
c.948-328T>G (n.948-328T>G)
c.3441+16787A>C (n.3441+16787A>C)
c.*74T>G (n.*74T>G)
c.1249T>G (p.Phe417Val)
c.276+16787A>C (n.276+16787A>C)
c.*220+5757T>G (n.*220+5757T>G)
c.373T>G (p.Phe125Val)
c.400T>G (p.Phe134Val)
c.1255T>G (p.Phe419Val)
c.1069T>G (p.Phe357Val)
c.988T>G (p.Phe330Val)
c.694T>G (p.Phe232Val)
c.1075T>G (p.Phe359Val)
2g.48688467A>GCA346747438GTF2A1L,LHCGR,STON1-GTF2A1Lc.1330T>C (p.Phe444Leu)
c.948-328T>C (n.948-328T>C)
c.3441+16787A>G (n.3441+16787A>G)
c.*74T>C (n.*74T>C)
c.1249T>C (p.Phe417Leu)
c.276+16787A>G (n.276+16787A>G)
c.*220+5757T>C (n.*220+5757T>C)
c.373T>C (p.Phe125Leu)
c.400T>C (p.Phe134Leu)
c.1255T>C (p.Phe419Leu)
c.1069T>C (p.Phe357Leu)
c.988T>C (p.Phe330Leu)
c.694T>C (p.Phe232Leu)
c.1075T>C (p.Phe359Leu)
2g.48688467A>TCA346747439GTF2A1L,LHCGR,STON1-GTF2A1Lc.1330T>A (p.Phe444Ile)
c.948-328T>A (n.948-328T>A)
c.3441+16787A>T (n.3441+16787A>T)
c.*74T>A (n.*74T>A)
c.1249T>A (p.Phe417Ile)
c.276+16787A>T (n.276+16787A>T)
c.*220+5757T>A (n.*220+5757T>A)
c.373T>A (p.Phe125Ile)
c.400T>A (p.Phe134Ile)
c.1255T>A (p.Phe419Ile)
c.1069T>A (p.Phe357Ile)
c.988T>A (p.Phe330Ile)
c.694T>A (p.Phe232Ile)
c.1075T>A (p.Phe359Ile)
2g.48688468G>ACA426125464GTF2A1L,LHCGR,STON1-GTF2A1Lc.1329C>T (p.Gly443=)
c.948-329C>T (n.948-329C>T)
c.3441+16788G>A (n.3441+16788G>A)
c.*73C>T (n.*73C>T)
c.1248C>T (p.Gly416=)
c.276+16788G>A (n.276+16788G>A)
c.*220+5756C>T (n.*220+5756C>T)
c.372C>T (p.Gly124=)
c.399C>T (p.Gly133=)
c.1254C>T (p.Gly418=)
c.1068C>T (p.Gly356=)
c.987C>T (p.Gly329=)
c.693C>T (p.Gly231=)
c.1074C>T (p.Gly358=)
2g.48688468G>CCA426125466GTF2A1L,LHCGR,STON1-GTF2A1Lc.1329C>G (p.Gly443=)
c.948-329C>G (n.948-329C>G)
c.3441+16788G>C (n.3441+16788G>C)
c.*73C>G (n.*73C>G)
c.1248C>G (p.Gly416=)
c.276+16788G>C (n.276+16788G>C)
c.*220+5756C>G (n.*220+5756C>G)
c.372C>G (p.Gly124=)
c.399C>G (p.Gly133=)
c.1254C>G (p.Gly418=)
c.1068C>G (p.Gly356=)
c.987C>G (p.Gly329=)
c.693C>G (p.Gly231=)
c.1074C>G (p.Gly358=)
2g.48688468G>TCA426125465GTF2A1L,LHCGR,STON1-GTF2A1Lc.1329C>A (p.Gly443=)
c.948-329C>A (n.948-329C>A)
c.3441+16788G>T (n.3441+16788G>T)
c.*73C>A (n.*73C>A)
c.1248C>A (p.Gly416=)
c.276+16788G>T (n.276+16788G>T)
c.*220+5756C>A (n.*220+5756C>A)
c.372C>A (p.Gly124=)
c.399C>A (p.Gly133=)
c.1254C>A (p.Gly418=)
c.1068C>A (p.Gly356=)
c.987C>A (p.Gly329=)
c.693C>A (p.Gly231=)
c.1074C>A (p.Gly358=)
2g.48688468_48688469delinsGCCA1248601145GTF2A1L,LHCGR,STON1-GTF2A1Lc.1328_1329delinsGC (p.Gly443=)
c.948-330_948-329delinsGC (n.948-330_948-329delinsGC)
c.3441+16788_3441+16789delinsGC (n.3441+16788_3441+16789delinsGC)
c.*72_*73delinsGC (n.*72_*73delinsGC)
c.1247_1248delinsGC (p.Gly416=)
c.276+16788_276+16789delinsGC (n.276+16788_276+16789delinsGC)
c.*220+5755_*220+5756delinsGC (n.*220+5755_*220+5756delinsGC)
c.371_372delinsGC (p.Gly124=)
c.398_399delinsGC (p.Gly133=)
c.1253_1254delinsGC (p.Gly418=)
c.1067_1068delinsGC (p.Gly356=)
c.986_987delinsGC (p.Gly329=)
c.692_693delinsGC (p.Gly231=)
c.1073_1074delinsGC (p.Gly358=)
2g.48688469C>ACA346747441GTF2A1L,LHCGR,STON1-GTF2A1Lc.1328G>T (p.Gly443Val)
c.948-330G>T (n.948-330G>T)
c.3441+16789C>A (n.3441+16789C>A)
c.*72G>T (n.*72G>T)
c.1247G>T (p.Gly416Val)
c.276+16789C>A (n.276+16789C>A)
c.*220+5755G>T (n.*220+5755G>T)
c.371G>T (p.Gly124Val)
c.398G>T (p.Gly133Val)
c.1253G>T (p.Gly418Val)
c.1067G>T (p.Gly356Val)
c.986G>T (p.Gly329Val)
c.692G>T (p.Gly231Val)
c.1073G>T (p.Gly358Val)
2g.48688469C>GCA346747443GTF2A1L,LHCGR,STON1-GTF2A1Lc.1328G>C (p.Gly443Ala)
c.948-330G>C (n.948-330G>C)
c.3441+16789C>G (n.3441+16789C>G)
c.*72G>C (n.*72G>C)
c.1247G>C (p.Gly416Ala)
c.276+16789C>G (n.276+16789C>G)
c.*220+5755G>C (n.*220+5755G>C)
c.371G>C (p.Gly124Ala)
c.398G>C (p.Gly133Ala)
c.1253G>C (p.Gly418Ala)
c.1067G>C (p.Gly356Ala)
c.986G>C (p.Gly329Ala)
c.692G>C (p.Gly231Ala)
c.1073G>C (p.Gly358Ala)
2g.48688469C>TCA346747442GTF2A1L,LHCGR,STON1-GTF2A1Lc.1328G>A (p.Gly443Asp)
c.948-330G>A (n.948-330G>A)
c.3441+16789C>T (n.3441+16789C>T)
c.*72G>A (n.*72G>A)
c.1247G>A (p.Gly416Asp)
c.276+16789C>T (n.276+16789C>T)
c.*220+5755G>A (n.*220+5755G>A)
c.371G>A (p.Gly124Asp)
c.398G>A (p.Gly133Asp)
c.1253G>A (p.Gly418Asp)
c.1067G>A (p.Gly356Asp)
c.986G>A (p.Gly329Asp)
c.692G>A (p.Gly231Asp)
c.1073G>A (p.Gly358Asp)
2g.48688470delCA532706167GTF2A1L,LHCGR,STON1-GTF2A1Lc.1328del (p.Gly443AlafsTer20)
c.948-330del (n.948-330del)
c.3441+16790del (n.3441+16790del)
c.*72del (n.*72del)
c.1247del (p.Gly416AlafsTer20)
c.276+16790del (n.276+16790del)
c.*220+5755del (n.*220+5755del)
c.371del (p.Gly124AlafsTer20)
c.398del (p.Gly133AlafsTer20)
c.1253del (p.Gly418AlafsTer20)
c.1067del (p.Gly356AlafsTer20)
c.986del (p.Gly329AlafsTer20)
c.692del (p.Gly231AlafsTer20)
c.1073del (p.Gly358AlafsTer20)
 dbSNP gnomAD v2 gnomAD v4
2g.48688470C>ACA346747445GTF2A1L,LHCGR,STON1-GTF2A1Lc.1327G>T (p.Gly443Cys)
c.948-331G>T (n.948-331G>T)
c.3441+16790C>A (n.3441+16790C>A)
c.*71G>T (n.*71G>T)
c.1246G>T (p.Gly416Cys)
c.276+16790C>A (n.276+16790C>A)
c.*220+5754G>T (n.*220+5754G>T)
c.370G>T (p.Gly124Cys)
c.397G>T (p.Gly133Cys)
c.1252G>T (p.Gly418Cys)
c.1066G>T (p.Gly356Cys)
c.985G>T (p.Gly329Cys)
c.691G>T (p.Gly231Cys)
c.1072G>T (p.Gly358Cys)
2g.48688470C>GCA346747447GTF2A1L,LHCGR,STON1-GTF2A1Lc.1327G>C (p.Gly443Arg)
c.948-331G>C (n.948-331G>C)
c.3441+16790C>G (n.3441+16790C>G)
c.*71G>C (n.*71G>C)
c.1246G>C (p.Gly416Arg)
c.276+16790C>G (n.276+16790C>G)
c.*220+5754G>C (n.*220+5754G>C)
c.370G>C (p.Gly124Arg)
c.397G>C (p.Gly133Arg)
c.1252G>C (p.Gly418Arg)
c.1066G>C (p.Gly356Arg)
c.985G>C (p.Gly329Arg)
c.691G>C (p.Gly231Arg)
c.1072G>C (p.Gly358Arg)
2g.48688470C>TCA346747448GTF2A1L,LHCGR,STON1-GTF2A1Lc.1327G>A (p.Gly443Ser)
c.948-331G>A (n.948-331G>A)
c.3441+16790C>T (n.3441+16790C>T)
c.*71G>A (n.*71G>A)
c.1246G>A (p.Gly416Ser)
c.276+16790C>T (n.276+16790C>T)
c.*220+5754G>A (n.*220+5754G>A)
c.370G>A (p.Gly124Ser)
c.397G>A (p.Gly133Ser)
c.1252G>A (p.Gly418Ser)
c.1066G>A (p.Gly356Ser)
c.985G>A (p.Gly329Ser)
c.691G>A (p.Gly231Ser)
c.1072G>A (p.Gly358Ser)
 gnomAD v4
2g.48688471A=CA1248601146GTF2A1L,LHCGR,STON1-GTF2A1Lc.1326T= (p.Ala442=)
c.948-332T= (n.948-332T=)
c.3441+16791A= (n.3441+16791A=)
c.*70T= (n.*70T=)
c.1245T= (p.Ala415=)
c.276+16791A= (n.276+16791A=)
c.*220+5753T= (n.*220+5753T=)
c.369T= (p.Ala123=)
c.396T= (p.Ala132=)
c.1251T= (p.Ala417=)
c.1065T= (p.Ala355=)
c.984T= (p.Ala328=)
c.690T= (p.Ala230=)
c.1071T= (p.Ala357=)
2g.48688471A>CCA46753026GTF2A1L,LHCGR,STON1-GTF2A1Lc.1326T>G (p.Ala442=)
c.948-332T>G (n.948-332T>G)
c.3441+16791A>C (n.3441+16791A>C)
c.*70T>G (n.*70T>G)
c.1245T>G (p.Ala415=)
c.276+16791A>C (n.276+16791A>C)
c.*220+5753T>G (n.*220+5753T>G)
c.369T>G (p.Ala123=)
c.396T>G (p.Ala132=)
c.1251T>G (p.Ala417=)
c.1065T>G (p.Ala355=)
c.984T>G (p.Ala328=)
c.690T>G (p.Ala230=)
c.1071T>G (p.Ala357=)
 dbSNP gnomAD v3 gnomAD v4
2g.48688471A>GCA426125476GTF2A1L,LHCGR,STON1-GTF2A1Lc.1326T>C (p.Ala442=)
c.948-332T>C (n.948-332T>C)
c.3441+16791A>G (n.3441+16791A>G)
c.*70T>C (n.*70T>C)
c.1245T>C (p.Ala415=)
c.276+16791A>G (n.276+16791A>G)
c.*220+5753T>C (n.*220+5753T>C)
c.369T>C (p.Ala123=)
c.396T>C (p.Ala132=)
c.1251T>C (p.Ala417=)
c.1065T>C (p.Ala355=)
c.984T>C (p.Ala328=)
c.690T>C (p.Ala230=)
c.1071T>C (p.Ala357=)
2g.48688471A>TCA426125477GTF2A1L,LHCGR,STON1-GTF2A1Lc.1326T>A (p.Ala442=)
c.948-332T>A (n.948-332T>A)
c.3441+16791A>T (n.3441+16791A>T)
c.*70T>A (n.*70T>A)
c.1245T>A (p.Ala415=)
c.276+16791A>T (n.276+16791A>T)
c.*220+5753T>A (n.*220+5753T>A)
c.369T>A (p.Ala123=)
c.396T>A (p.Ala132=)
c.1251T>A (p.Ala417=)
c.1065T>A (p.Ala355=)
c.984T>A (p.Ala328=)
c.690T>A (p.Ala230=)
c.1071T>A (p.Ala357=)
2g.48688472G>ACA346747450GTF2A1L,LHCGR,STON1-GTF2A1Lc.1325C>T (p.Ala442Val)
c.948-333C>T (n.948-333C>T)
c.3441+16792G>A (n.3441+16792G>A)
c.*69C>T (n.*69C>T)
c.1244C>T (p.Ala415Val)
c.276+16792G>A (n.276+16792G>A)
c.*220+5752C>T (n.*220+5752C>T)
c.368C>T (p.Ala123Val)
c.395C>T (p.Ala132Val)
c.1250C>T (p.Ala417Val)
c.1064C>T (p.Ala355Val)
c.983C>T (p.Ala328Val)
c.689C>T (p.Ala230Val)
c.1070C>T (p.Ala357Val)
2g.48688472G>CCA346747452GTF2A1L,LHCGR,STON1-GTF2A1Lc.1325C>G (p.Ala442Gly)
c.948-333C>G (n.948-333C>G)
c.3441+16792G>C (n.3441+16792G>C)
c.*69C>G (n.*69C>G)
c.1244C>G (p.Ala415Gly)
c.276+16792G>C (n.276+16792G>C)
c.*220+5752C>G (n.*220+5752C>G)
c.368C>G (p.Ala123Gly)
c.395C>G (p.Ala132Gly)
c.1250C>G (p.Ala417Gly)
c.1064C>G (p.Ala355Gly)
c.983C>G (p.Ala328Gly)
c.689C>G (p.Ala230Gly)
c.1070C>G (p.Ala357Gly)
2g.48688472G>TCA346747453GTF2A1L,LHCGR,STON1-GTF2A1Lc.1325C>A (p.Ala442Asp)
c.948-333C>A (n.948-333C>A)
c.3441+16792G>T (n.3441+16792G>T)
c.*69C>A (n.*69C>A)
c.1244C>A (p.Ala415Asp)
c.276+16792G>T (n.276+16792G>T)
c.*220+5752C>A (n.*220+5752C>A)
c.368C>A (p.Ala123Asp)
c.395C>A (p.Ala132Asp)
c.1250C>A (p.Ala417Asp)
c.1064C>A (p.Ala355Asp)
c.983C>A (p.Ala328Asp)
c.689C>A (p.Ala230Asp)
c.1070C>A (p.Ala357Asp)
2g.48688473C>ACA346747454GTF2A1L,LHCGR,STON1-GTF2A1Lc.1324G>T (p.Ala442Ser)
c.948-334G>T (n.948-334G>T)
c.3441+16793C>A (n.3441+16793C>A)
c.*68G>T (n.*68G>T)
c.1243G>T (p.Ala415Ser)
c.276+16793C>A (n.276+16793C>A)
c.*220+5751G>T (n.*220+5751G>T)
c.367G>T (p.Ala123Ser)
c.394G>T (p.Ala132Ser)
c.1249G>T (p.Ala417Ser)
c.1063G>T (p.Ala355Ser)
c.982G>T (p.Ala328Ser)
c.688G>T (p.Ala230Ser)
c.1069G>T (p.Ala357Ser)
2g.48688473C>GCA346747456GTF2A1L,LHCGR,STON1-GTF2A1Lc.1324G>C (p.Ala442Pro)
c.948-334G>C (n.948-334G>C)
c.3441+16793C>G (n.3441+16793C>G)
c.*68G>C (n.*68G>C)
c.1243G>C (p.Ala415Pro)
c.276+16793C>G (n.276+16793C>G)
c.*220+5751G>C (n.*220+5751G>C)
c.367G>C (p.Ala123Pro)
c.394G>C (p.Ala132Pro)
c.1249G>C (p.Ala417Pro)
c.1063G>C (p.Ala355Pro)
c.982G>C (p.Ala328Pro)
c.688G>C (p.Ala230Pro)
c.1069G>C (p.Ala357Pro)
2g.48688473C>TCA346747457GTF2A1L,LHCGR,STON1-GTF2A1Lc.1324G>A (p.Ala442Thr)
c.948-334G>A (n.948-334G>A)
c.3441+16793C>T (n.3441+16793C>T)
c.*68G>A (n.*68G>A)
c.1243G>A (p.Ala415Thr)
c.276+16793C>T (n.276+16793C>T)
c.*220+5751G>A (n.*220+5751G>A)
c.367G>A (p.Ala123Thr)
c.394G>A (p.Ala132Thr)
c.1249G>A (p.Ala417Thr)
c.1063G>A (p.Ala355Thr)
c.982G>A (p.Ala328Thr)
c.688G>A (p.Ala230Thr)
c.1069G>A (p.Ala357Thr)
 ClinVar
2g.48688474A>CCA426125486GTF2A1L,LHCGR,STON1-GTF2A1Lc.1323T>G (p.Thr441=)
c.948-335T>G (n.948-335T>G)
c.3441+16794A>C (n.3441+16794A>C)
c.*67T>G (n.*67T>G)
c.1242T>G (p.Thr414=)
c.276+16794A>C (n.276+16794A>C)
c.*220+5750T>G (n.*220+5750T>G)
c.366T>G (p.Thr122=)
c.393T>G (p.Thr131=)
c.1248T>G (p.Thr416=)
c.1062T>G (p.Thr354=)
c.981T>G (p.Thr327=)
c.687T>G (p.Thr229=)
c.1068T>G (p.Thr356=)
2g.48688474A>GCA426125487GTF2A1L,LHCGR,STON1-GTF2A1Lc.1323T>C (p.Thr441=)
c.948-335T>C (n.948-335T>C)
c.3441+16794A>G (n.3441+16794A>G)
c.*67T>C (n.*67T>C)
c.1242T>C (p.Thr414=)
c.276+16794A>G (n.276+16794A>G)
c.*220+5750T>C (n.*220+5750T>C)
c.366T>C (p.Thr122=)
c.393T>C (p.Thr131=)
c.1248T>C (p.Thr416=)
c.1062T>C (p.Thr354=)
c.981T>C (p.Thr327=)
c.687T>C (p.Thr229=)
c.1068T>C (p.Thr356=)
2g.48688474A>TCA426125495GTF2A1L,LHCGR,STON1-GTF2A1Lc.1323T>A (p.Thr441=)
c.948-335T>A (n.948-335T>A)
c.3441+16794A>T (n.3441+16794A>T)
c.*67T>A (n.*67T>A)
c.1242T>A (p.Thr414=)
c.276+16794A>T (n.276+16794A>T)
c.*220+5750T>A (n.*220+5750T>A)
c.366T>A (p.Thr122=)
c.393T>A (p.Thr131=)
c.1248T>A (p.Thr416=)
c.1062T>A (p.Thr354=)
c.981T>A (p.Thr327=)
c.687T>A (p.Thr229=)
c.1068T>A (p.Thr356=)
2g.48688475G>ACA346747459GTF2A1L,LHCGR,STON1-GTF2A1Lc.1322C>T (p.Thr441Ile)
c.948-336C>T (n.948-336C>T)
c.3441+16795G>A (n.3441+16795G>A)
c.*66C>T (n.*66C>T)
c.1241C>T (p.Thr414Ile)
c.276+16795G>A (n.276+16795G>A)
c.*220+5749C>T (n.*220+5749C>T)
c.365C>T (p.Thr122Ile)
c.392C>T (p.Thr131Ile)
c.1247C>T (p.Thr416Ile)
c.1061C>T (p.Thr354Ile)
c.980C>T (p.Thr327Ile)
c.686C>T (p.Thr229Ile)
c.1067C>T (p.Thr356Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.48688475G>CCA346747460GTF2A1L,LHCGR,STON1-GTF2A1Lc.1322C>G (p.Thr441Ser)
c.948-336C>G (n.948-336C>G)
c.3441+16795G>C (n.3441+16795G>C)
c.*66C>G (n.*66C>G)
c.1241C>G (p.Thr414Ser)
c.276+16795G>C (n.276+16795G>C)
c.*220+5749C>G (n.*220+5749C>G)
c.365C>G (p.Thr122Ser)
c.392C>G (p.Thr131Ser)
c.1247C>G (p.Thr416Ser)
c.1061C>G (p.Thr354Ser)
c.980C>G (p.Thr327Ser)
c.686C>G (p.Thr229Ser)
c.1067C>G (p.Thr356Ser)
2g.48688475G=CA1248601147GTF2A1L,LHCGR,STON1-GTF2A1Lc.1322C= (p.Thr441=)
c.948-336C= (n.948-336C=)
c.3441+16795G= (n.3441+16795G=)
c.*66C= (n.*66C=)
c.1241C= (p.Thr414=)
c.276+16795G= (n.276+16795G=)
c.*220+5749C= (n.*220+5749C=)
c.365C= (p.Thr122=)
c.392C= (p.Thr131=)
c.1247C= (p.Thr416=)
c.1061C= (p.Thr354=)
c.980C= (p.Thr327=)
c.686C= (p.Thr229=)
c.1067C= (p.Thr356=)
2g.48688475G>TCA346747461GTF2A1L,LHCGR,STON1-GTF2A1Lc.1322C>A (p.Thr441Asn)
c.948-336C>A (n.948-336C>A)
c.3441+16795G>T (n.3441+16795G>T)
c.*66C>A (n.*66C>A)
c.1241C>A (p.Thr414Asn)
c.276+16795G>T (n.276+16795G>T)
c.*220+5749C>A (n.*220+5749C>A)
c.365C>A (p.Thr122Asn)
c.392C>A (p.Thr131Asn)
c.1247C>A (p.Thr416Asn)
c.1061C>A (p.Thr354Asn)
c.980C>A (p.Thr327Asn)
c.686C>A (p.Thr229Asn)
c.1067C>A (p.Thr356Asn)
2g.48688476T>ACA346747465GTF2A1L,LHCGR,STON1-GTF2A1Lc.1321A>T (p.Thr441Ser)
c.948-337A>T (n.948-337A>T)
c.3441+16796T>A (n.3441+16796T>A)
c.*65A>T (n.*65A>T)
c.1240A>T (p.Thr414Ser)
c.276+16796T>A (n.276+16796T>A)
c.*220+5748A>T (n.*220+5748A>T)
c.364A>T (p.Thr122Ser)
c.391A>T (p.Thr131Ser)
c.1246A>T (p.Thr416Ser)
c.1060A>T (p.Thr354Ser)
c.979A>T (p.Thr327Ser)
c.685A>T (p.Thr229Ser)
c.1066A>T (p.Thr356Ser)
2g.48688476T>CCA346747467GTF2A1L,LHCGR,STON1-GTF2A1Lc.1321A>G (p.Thr441Ala)
c.948-337A>G (n.948-337A>G)
c.3441+16796T>C (n.3441+16796T>C)
c.*65A>G (n.*65A>G)
c.1240A>G (p.Thr414Ala)
c.276+16796T>C (n.276+16796T>C)
c.*220+5748A>G (n.*220+5748A>G)
c.364A>G (p.Thr122Ala)
c.391A>G (p.Thr131Ala)
c.1246A>G (p.Thr416Ala)
c.1060A>G (p.Thr354Ala)
c.979A>G (p.Thr327Ala)
c.685A>G (p.Thr229Ala)
c.1066A>G (p.Thr356Ala)
 gnomAD v4
2g.48688476T>GCA346747463GTF2A1L,LHCGR,STON1-GTF2A1Lc.1321A>C (p.Thr441Pro)
c.948-337A>C (n.948-337A>C)
c.3441+16796T>G (n.3441+16796T>G)
c.*65A>C (n.*65A>C)
c.1240A>C (p.Thr414Pro)
c.276+16796T>G (n.276+16796T>G)
c.*220+5748A>C (n.*220+5748A>C)
c.364A>C (p.Thr122Pro)
c.391A>C (p.Thr131Pro)
c.1246A>C (p.Thr416Pro)
c.1060A>C (p.Thr354Pro)
c.979A>C (p.Thr327Pro)
c.685A>C (p.Thr229Pro)
c.1066A>C (p.Thr356Pro)
2g.48688477G>ACA46753030GTF2A1L,LHCGR,STON1-GTF2A1Lc.1320C>T (p.Ser440=)
c.948-338C>T (n.948-338C>T)
c.3441+16797G>A (n.3441+16797G>A)
c.*64C>T (n.*64C>T)
c.1239C>T (p.Ser413=)
c.276+16797G>A (n.276+16797G>A)
c.*220+5747C>T (n.*220+5747C>T)
c.363C>T (p.Ser121=)
c.390C>T (p.Ser130=)
c.1245C>T (p.Ser415=)
c.1059C>T (p.Ser353=)
c.978C>T (p.Ser326=)
c.684C>T (p.Ser228=)
c.1065C>T (p.Ser355=)
 dbSNP gnomAD v3 gnomAD v4
2g.48688477G>CCA346747468GTF2A1L,LHCGR,STON1-GTF2A1Lc.1320C>G (p.Ser440Arg)
c.948-338C>G (n.948-338C>G)
c.3441+16797G>C (n.3441+16797G>C)
c.*64C>G (n.*64C>G)
c.1239C>G (p.Ser413Arg)
c.276+16797G>C (n.276+16797G>C)
c.*220+5747C>G (n.*220+5747C>G)
c.363C>G (p.Ser121Arg)
c.390C>G (p.Ser130Arg)
c.1245C>G (p.Ser415Arg)
c.1059C>G (p.Ser353Arg)
c.978C>G (p.Ser326Arg)
c.684C>G (p.Ser228Arg)
c.1065C>G (p.Ser355Arg)
2g.48688477G=CA1248601148GTF2A1L,LHCGR,STON1-GTF2A1Lc.1320C= (p.Ser440=)
c.948-338C= (n.948-338C=)
c.3441+16797G= (n.3441+16797G=)
c.*64C= (n.*64C=)
c.1239C= (p.Ser413=)
c.276+16797G= (n.276+16797G=)
c.*220+5747C= (n.*220+5747C=)
c.363C= (p.Ser121=)
c.390C= (p.Ser130=)
c.1245C= (p.Ser415=)
c.1059C= (p.Ser353=)
c.978C= (p.Ser326=)
c.684C= (p.Ser228=)
c.1065C= (p.Ser355=)
2g.48688477G>TCA346747470GTF2A1L,LHCGR,STON1-GTF2A1Lc.1320C>A (p.Ser440Arg)
c.948-338C>A (n.948-338C>A)
c.3441+16797G>T (n.3441+16797G>T)
c.*64C>A (n.*64C>A)
c.1239C>A (p.Ser413Arg)
c.276+16797G>T (n.276+16797G>T)
c.*220+5747C>A (n.*220+5747C>A)
c.363C>A (p.Ser121Arg)
c.390C>A (p.Ser130Arg)
c.1245C>A (p.Ser415Arg)
c.1059C>A (p.Ser353Arg)
c.978C>A (p.Ser326Arg)
c.684C>A (p.Ser228Arg)
c.1065C>A (p.Ser355Arg)
2g.48688478C>ACA346747472GTF2A1L,LHCGR,STON1-GTF2A1Lc.1319G>T (p.Ser440Ile)
c.948-339G>T (n.948-339G>T)
c.3441+16798C>A (n.3441+16798C>A)
c.*63G>T (n.*63G>T)
c.1238G>T (p.Ser413Ile)
c.276+16798C>A (n.276+16798C>A)
c.*220+5746G>T (n.*220+5746G>T)
c.362G>T (p.Ser121Ile)
c.389G>T (p.Ser130Ile)
c.1244G>T (p.Ser415Ile)
c.1058G>T (p.Ser353Ile)
c.977G>T (p.Ser326Ile)
c.683G>T (p.Ser228Ile)
c.1064G>T (p.Ser355Ile)
2g.48688478C>GCA346747473GTF2A1L,LHCGR,STON1-GTF2A1Lc.1319G>C (p.Ser440Thr)
c.948-339G>C (n.948-339G>C)
c.3441+16798C>G (n.3441+16798C>G)
c.*63G>C (n.*63G>C)
c.1238G>C (p.Ser413Thr)
c.276+16798C>G (n.276+16798C>G)
c.*220+5746G>C (n.*220+5746G>C)
c.362G>C (p.Ser121Thr)
c.389G>C (p.Ser130Thr)
c.1244G>C (p.Ser415Thr)
c.1058G>C (p.Ser353Thr)
c.977G>C (p.Ser326Thr)
c.683G>C (p.Ser228Thr)
c.1064G>C (p.Ser355Thr)
2g.48688478C>TCA346747475GTF2A1L,LHCGR,STON1-GTF2A1Lc.1319G>A (p.Ser440Asn)
c.948-339G>A (n.948-339G>A)
c.3441+16798C>T (n.3441+16798C>T)
c.*63G>A (n.*63G>A)
c.1238G>A (p.Ser413Asn)
c.276+16798C>T (n.276+16798C>T)
c.*220+5746G>A (n.*220+5746G>A)
c.362G>A (p.Ser121Asn)
c.389G>A (p.Ser130Asn)
c.1244G>A (p.Ser415Asn)
c.1058G>A (p.Ser353Asn)
c.977G>A (p.Ser326Asn)
c.683G>A (p.Ser228Asn)
c.1064G>A (p.Ser355Asn)
2g.48688479T>ACA346747477GTF2A1L,LHCGR,STON1-GTF2A1Lc.1318A>T (p.Ser440Cys)
c.948-340A>T (n.948-340A>T)
c.3441+16799T>A (n.3441+16799T>A)
c.*62A>T (n.*62A>T)
c.1237A>T (p.Ser413Cys)
c.276+16799T>A (n.276+16799T>A)
c.*220+5745A>T (n.*220+5745A>T)
c.361A>T (p.Ser121Cys)
c.388A>T (p.Ser130Cys)
c.1243A>T (p.Ser415Cys)
c.1057A>T (p.Ser353Cys)
c.976A>T (p.Ser326Cys)
c.682A>T (p.Ser228Cys)
c.1063A>T (p.Ser355Cys)
2g.48688479T>CCA1653046GTF2A1L,LHCGR,STON1-GTF2A1Lc.1318A>G (p.Ser440Gly)
c.948-340A>G (n.948-340A>G)
c.3441+16799T>C (n.3441+16799T>C)
c.*62A>G (n.*62A>G)
c.1237A>G (p.Ser413Gly)
c.276+16799T>C (n.276+16799T>C)
c.*220+5745A>G (n.*220+5745A>G)
c.361A>G (p.Ser121Gly)
c.388A>G (p.Ser130Gly)
c.1243A>G (p.Ser415Gly)
c.1057A>G (p.Ser353Gly)
c.976A>G (p.Ser326Gly)
c.682A>G (p.Ser228Gly)
c.1063A>G (p.Ser355Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688479T>GCA346747479GTF2A1L,LHCGR,STON1-GTF2A1Lc.1318A>C (p.Ser440Arg)
c.948-340A>C (n.948-340A>C)
c.3441+16799T>G (n.3441+16799T>G)
c.*62A>C (n.*62A>C)
c.1237A>C (p.Ser413Arg)
c.276+16799T>G (n.276+16799T>G)
c.*220+5745A>C (n.*220+5745A>C)
c.361A>C (p.Ser121Arg)
c.388A>C (p.Ser130Arg)
c.1243A>C (p.Ser415Arg)
c.1057A>C (p.Ser353Arg)
c.976A>C (p.Ser326Arg)
c.682A>C (p.Ser228Arg)
c.1063A>C (p.Ser355Arg)
2g.48688479T=CA1248601149GTF2A1L,LHCGR,STON1-GTF2A1Lc.1318A= (p.Ser440=)
c.948-340A= (n.948-340A=)
c.3441+16799T= (n.3441+16799T=)
c.*62A= (n.*62A=)
c.1237A= (p.Ser413=)
c.276+16799T= (n.276+16799T=)
c.*220+5745A= (n.*220+5745A=)
c.361A= (p.Ser121=)
c.388A= (p.Ser130=)
c.1243A= (p.Ser415=)
c.1057A= (p.Ser353=)
c.976A= (p.Ser326=)
c.682A= (p.Ser228=)
c.1063A= (p.Ser355=)
2g.48688480G>ACA426125516GTF2A1L,LHCGR,STON1-GTF2A1Lc.1317C>T (p.Cys439=)
c.948-341C>T (n.948-341C>T)
c.3441+16800G>A (n.3441+16800G>A)
c.*61C>T (n.*61C>T)
c.1236C>T (p.Cys412=)
c.276+16800G>A (n.276+16800G>A)
c.*220+5744C>T (n.*220+5744C>T)
c.360C>T (p.Cys120=)
c.387C>T (p.Cys129=)
c.1242C>T (p.Cys414=)
c.1056C>T (p.Cys352=)
c.975C>T (p.Cys325=)
c.681C>T (p.Cys227=)
c.1062C>T (p.Cys354=)
2g.48688480G>CCA346747481GTF2A1L,LHCGR,STON1-GTF2A1Lc.1317C>G (p.Cys439Trp)
c.948-341C>G (n.948-341C>G)
c.3441+16800G>C (n.3441+16800G>C)
c.*61C>G (n.*61C>G)
c.1236C>G (p.Cys412Trp)
c.276+16800G>C (n.276+16800G>C)
c.*220+5744C>G (n.*220+5744C>G)
c.360C>G (p.Cys120Trp)
c.387C>G (p.Cys129Trp)
c.1242C>G (p.Cys414Trp)
c.1056C>G (p.Cys352Trp)
c.975C>G (p.Cys325Trp)
c.681C>G (p.Cys227Trp)
c.1062C>G (p.Cys354Trp)
2g.48688480G=CA1248601150GTF2A1L,LHCGR,STON1-GTF2A1Lc.1317C= (p.Cys439=)
c.948-341C= (n.948-341C=)
c.3441+16800G= (n.3441+16800G=)
c.*61C= (n.*61C=)
c.1236C= (p.Cys412=)
c.276+16800G= (n.276+16800G=)
c.*220+5744C= (n.*220+5744C=)
c.360C= (p.Cys120=)
c.387C= (p.Cys129=)
c.1242C= (p.Cys414=)
c.1056C= (p.Cys352=)
c.975C= (p.Cys325=)
c.681C= (p.Cys227=)
c.1062C= (p.Cys354=)
2g.48688480G>TCA346747482GTF2A1L,LHCGR,STON1-GTF2A1Lc.1317C>A (p.Cys439Ter)
c.948-341C>A (n.948-341C>A)
c.3441+16800G>T (n.3441+16800G>T)
c.*61C>A (n.*61C>A)
c.1236C>A (p.Cys412Ter)
c.276+16800G>T (n.276+16800G>T)
c.*220+5744C>A (n.*220+5744C>A)
c.360C>A (p.Cys120Ter)
c.387C>A (p.Cys129Ter)
c.1242C>A (p.Cys414Ter)
c.1056C>A (p.Cys352Ter)
c.975C>A (p.Cys325Ter)
c.681C>A (p.Cys227Ter)
c.1062C>A (p.Cys354Ter)
 dbSNP gnomAD v2 gnomAD v4
2g.48688481C>ACA346747484GTF2A1L,LHCGR,STON1-GTF2A1Lc.1316G>T (p.Cys439Phe)
c.948-342G>T (n.948-342G>T)
c.3441+16801C>A (n.3441+16801C>A)
c.*60G>T (n.*60G>T)
c.1235G>T (p.Cys412Phe)
c.276+16801C>A (n.276+16801C>A)
c.*220+5743G>T (n.*220+5743G>T)
c.359G>T (p.Cys120Phe)
c.386G>T (p.Cys129Phe)
c.1241G>T (p.Cys414Phe)
c.1055G>T (p.Cys352Phe)
c.974G>T (p.Cys325Phe)
c.680G>T (p.Cys227Phe)
c.1061G>T (p.Cys354Phe)
2g.48688481C=CA1248601151GTF2A1L,LHCGR,STON1-GTF2A1Lc.1316G= (p.Cys439=)
c.948-342G= (n.948-342G=)
c.3441+16801C= (n.3441+16801C=)
c.*60G= (n.*60G=)
c.1235G= (p.Cys412=)
c.276+16801C= (n.276+16801C=)
c.*220+5743G= (n.*220+5743G=)
c.359G= (p.Cys120=)
c.386G= (p.Cys129=)
c.1241G= (p.Cys414=)
c.1055G= (p.Cys352=)
c.974G= (p.Cys325=)
c.680G= (p.Cys227=)
c.1061G= (p.Cys354=)
2g.48688481C>GCA346747485GTF2A1L,LHCGR,STON1-GTF2A1Lc.1316G>C (p.Cys439Ser)
c.948-342G>C (n.948-342G>C)
c.3441+16801C>G (n.3441+16801C>G)
c.*60G>C (n.*60G>C)
c.1235G>C (p.Cys412Ser)
c.276+16801C>G (n.276+16801C>G)
c.*220+5743G>C (n.*220+5743G>C)
c.359G>C (p.Cys120Ser)
c.386G>C (p.Cys129Ser)
c.1241G>C (p.Cys414Ser)
c.1055G>C (p.Cys352Ser)
c.974G>C (p.Cys325Ser)
c.680G>C (p.Cys227Ser)
c.1061G>C (p.Cys354Ser)
2g.48688481C>TCA46753035GTF2A1L,LHCGR,STON1-GTF2A1Lc.1316G>A (p.Cys439Tyr)
c.948-342G>A (n.948-342G>A)
c.3441+16801C>T (n.3441+16801C>T)
c.*60G>A (n.*60G>A)
c.1235G>A (p.Cys412Tyr)
c.276+16801C>T (n.276+16801C>T)
c.*220+5743G>A (n.*220+5743G>A)
c.359G>A (p.Cys120Tyr)
c.386G>A (p.Cys129Tyr)
c.1241G>A (p.Cys414Tyr)
c.1055G>A (p.Cys352Tyr)
c.974G>A (p.Cys325Tyr)
c.680G>A (p.Cys227Tyr)
c.1061G>A (p.Cys354Tyr)
 dbSNP gnomAD v4
2g.48688482A=CA1248601152GTF2A1L,LHCGR,STON1-GTF2A1Lc.1315T= (p.Cys439=)
c.948-343T= (n.948-343T=)
c.3441+16802A= (n.3441+16802A=)
c.*59T= (n.*59T=)
c.1234T= (p.Cys412=)
c.276+16802A= (n.276+16802A=)
c.*220+5742T= (n.*220+5742T=)
c.358T= (p.Cys120=)
c.385T= (p.Cys129=)
c.1240T= (p.Cys414=)
c.1054T= (p.Cys352=)
c.973T= (p.Cys325=)
c.679T= (p.Cys227=)
c.1060T= (p.Cys354=)
2g.48688482A>CCA346747491GTF2A1L,LHCGR,STON1-GTF2A1Lc.1315T>G (p.Cys439Gly)
c.948-343T>G (n.948-343T>G)
c.3441+16802A>C (n.3441+16802A>C)
c.*59T>G (n.*59T>G)
c.1234T>G (p.Cys412Gly)
c.276+16802A>C (n.276+16802A>C)
c.*220+5742T>G (n.*220+5742T>G)
c.358T>G (p.Cys120Gly)
c.385T>G (p.Cys129Gly)
c.1240T>G (p.Cys414Gly)
c.1054T>G (p.Cys352Gly)
c.973T>G (p.Cys325Gly)
c.679T>G (p.Cys227Gly)
c.1060T>G (p.Cys354Gly)
2g.48688482A>GCA346747490GTF2A1L,LHCGR,STON1-GTF2A1Lc.1315T>C (p.Cys439Arg)
c.948-343T>C (n.948-343T>C)
c.3441+16802A>G (n.3441+16802A>G)
c.*59T>C (n.*59T>C)
c.1234T>C (p.Cys412Arg)
c.276+16802A>G (n.276+16802A>G)
c.*220+5742T>C (n.*220+5742T>C)
c.358T>C (p.Cys120Arg)
c.385T>C (p.Cys129Arg)
c.1240T>C (p.Cys414Arg)
c.1054T>C (p.Cys352Arg)
c.973T>C (p.Cys325Arg)
c.679T>C (p.Cys227Arg)
c.1060T>C (p.Cys354Arg)
 dbSNP gnomAD v4
2g.48688482A>TCA346747488GTF2A1L,LHCGR,STON1-GTF2A1Lc.1315T>A (p.Cys439Ser)
c.948-343T>A (n.948-343T>A)
c.3441+16802A>T (n.3441+16802A>T)
c.*59T>A (n.*59T>A)
c.1234T>A (p.Cys412Ser)
c.276+16802A>T (n.276+16802A>T)
c.*220+5742T>A (n.*220+5742T>A)
c.358T>A (p.Cys120Ser)
c.385T>A (p.Cys129Ser)
c.1240T>A (p.Cys414Ser)
c.1054T>A (p.Cys352Ser)
c.973T>A (p.Cys325Ser)
c.679T>A (p.Cys227Ser)
c.1060T>A (p.Cys354Ser)
2g.48688483C>ACA426125522GTF2A1L,LHCGR,STON1-GTF2A1Lc.1314G>T (p.Gly438=)
c.948-344G>T (n.948-344G>T)
c.3441+16803C>A (n.3441+16803C>A)
c.*58G>T (n.*58G>T)
c.1233G>T (p.Gly411=)
c.276+16803C>A (n.276+16803C>A)
c.*220+5741G>T (n.*220+5741G>T)
c.357G>T (p.Gly119=)
c.384G>T (p.Gly128=)
c.1239G>T (p.Gly413=)
c.1053G>T (p.Gly351=)
c.972G>T (p.Gly324=)
c.678G>T (p.Gly226=)
c.1059G>T (p.Gly353=)
2g.48688483C=CA1248601153GTF2A1L,LHCGR,STON1-GTF2A1Lc.1314G= (p.Gly438=)
c.948-344G= (n.948-344G=)
c.3441+16803C= (n.3441+16803C=)
c.*58G= (n.*58G=)
c.1233G= (p.Gly411=)
c.276+16803C= (n.276+16803C=)
c.*220+5741G= (n.*220+5741G=)
c.357G= (p.Gly119=)
c.384G= (p.Gly128=)
c.1239G= (p.Gly413=)
c.1053G= (p.Gly351=)
c.972G= (p.Gly324=)
c.678G= (p.Gly226=)
c.1059G= (p.Gly353=)
2g.48688483C>GCA426125525GTF2A1L,LHCGR,STON1-GTF2A1Lc.1314G>C (p.Gly438=)
c.948-344G>C (n.948-344G>C)
c.3441+16803C>G (n.3441+16803C>G)
c.*58G>C (n.*58G>C)
c.1233G>C (p.Gly411=)
c.276+16803C>G (n.276+16803C>G)
c.*220+5741G>C (n.*220+5741G>C)
c.357G>C (p.Gly119=)
c.384G>C (p.Gly128=)
c.1239G>C (p.Gly413=)
c.1053G>C (p.Gly351=)
c.972G>C (p.Gly324=)
c.678G>C (p.Gly226=)
c.1059G>C (p.Gly353=)
 dbSNP gnomAD v2 gnomAD v4
2g.48688483C>TCA426125528GTF2A1L,LHCGR,STON1-GTF2A1Lc.1314G>A (p.Gly438=)
c.948-344G>A (n.948-344G>A)
c.3441+16803C>T (n.3441+16803C>T)
c.*58G>A (n.*58G>A)
c.1233G>A (p.Gly411=)
c.276+16803C>T (n.276+16803C>T)
c.*220+5741G>A (n.*220+5741G>A)
c.357G>A (p.Gly119=)
c.384G>A (p.Gly128=)
c.1239G>A (p.Gly413=)
c.1053G>A (p.Gly351=)
c.972G>A (p.Gly324=)
c.678G>A (p.Gly226=)
c.1059G>A (p.Gly353=)
2g.48688484C>ACA346747493GTF2A1L,LHCGR,STON1-GTF2A1Lc.1313G>T (p.Gly438Val)
c.948-345G>T (n.948-345G>T)
c.3441+16804C>A (n.3441+16804C>A)
c.*57G>T (n.*57G>T)
c.1232G>T (p.Gly411Val)
c.276+16804C>A (n.276+16804C>A)
c.*220+5740G>T (n.*220+5740G>T)
c.356G>T (p.Gly119Val)
c.383G>T (p.Gly128Val)
c.1238G>T (p.Gly413Val)
c.1052G>T (p.Gly351Val)
c.971G>T (p.Gly324Val)
c.677G>T (p.Gly226Val)
c.1058G>T (p.Gly353Val)
2g.48688484C>GCA346747495GTF2A1L,LHCGR,STON1-GTF2A1Lc.1313G>C (p.Gly438Ala)
c.948-345G>C (n.948-345G>C)
c.3441+16804C>G (n.3441+16804C>G)
c.*57G>C (n.*57G>C)
c.1232G>C (p.Gly411Ala)
c.276+16804C>G (n.276+16804C>G)
c.*220+5740G>C (n.*220+5740G>C)
c.356G>C (p.Gly119Ala)
c.383G>C (p.Gly128Ala)
c.1238G>C (p.Gly413Ala)
c.1052G>C (p.Gly351Ala)
c.971G>C (p.Gly324Ala)
c.677G>C (p.Gly226Ala)
c.1058G>C (p.Gly353Ala)
 gnomAD v4
2g.48688484C>TCA346747497GTF2A1L,LHCGR,STON1-GTF2A1Lc.1313G>A (p.Gly438Glu)
c.948-345G>A (n.948-345G>A)
c.3441+16804C>T (n.3441+16804C>T)
c.*57G>A (n.*57G>A)
c.1232G>A (p.Gly411Glu)
c.276+16804C>T (n.276+16804C>T)
c.*220+5740G>A (n.*220+5740G>A)
c.356G>A (p.Gly119Glu)
c.383G>A (p.Gly128Glu)
c.1238G>A (p.Gly413Glu)
c.1052G>A (p.Gly351Glu)
c.971G>A (p.Gly324Glu)
c.677G>A (p.Gly226Glu)
c.1058G>A (p.Gly353Glu)
 gnomAD v3 gnomAD v4
2g.48688485C>ACA346747498GTF2A1L,LHCGR,STON1-GTF2A1Lc.1312G>T (p.Gly438Trp)
c.948-346G>T (n.948-346G>T)
c.3441+16805C>A (n.3441+16805C>A)
c.*56G>T (n.*56G>T)
c.1231G>T (p.Gly411Trp)
c.276+16805C>A (n.276+16805C>A)
c.*220+5739G>T (n.*220+5739G>T)
c.355G>T (p.Gly119Trp)
c.382G>T (p.Gly128Trp)
c.1237G>T (p.Gly413Trp)
c.1051G>T (p.Gly351Trp)
c.970G>T (p.Gly324Trp)
c.676G>T (p.Gly226Trp)
c.1057G>T (p.Gly353Trp)
2g.48688485C=CA1248601154GTF2A1L,LHCGR,STON1-GTF2A1Lc.1312G= (p.Gly438=)
c.948-346G= (n.948-346G=)
c.3441+16805C= (n.3441+16805C=)
c.*56G= (n.*56G=)
c.1231G= (p.Gly411=)
c.276+16805C= (n.276+16805C=)
c.*220+5739G= (n.*220+5739G=)
c.355G= (p.Gly119=)
c.382G= (p.Gly128=)
c.1237G= (p.Gly413=)
c.1051G= (p.Gly351=)
c.970G= (p.Gly324=)
c.676G= (p.Gly226=)
c.1057G= (p.Gly353=)
2g.48688485C>GCA346747500GTF2A1L,LHCGR,STON1-GTF2A1Lc.1312G>C (p.Gly438Arg)
c.948-346G>C (n.948-346G>C)
c.3441+16805C>G (n.3441+16805C>G)
c.*56G>C (n.*56G>C)
c.1231G>C (p.Gly411Arg)
c.276+16805C>G (n.276+16805C>G)
c.*220+5739G>C (n.*220+5739G>C)
c.355G>C (p.Gly119Arg)
c.382G>C (p.Gly128Arg)
c.1237G>C (p.Gly413Arg)
c.1051G>C (p.Gly351Arg)
c.970G>C (p.Gly324Arg)
c.676G>C (p.Gly226Arg)
c.1057G>C (p.Gly353Arg)
 dbSNP
2g.48688485C>TCA346747502GTF2A1L,LHCGR,STON1-GTF2A1Lc.1312G>A (p.Gly438Arg)
c.948-346G>A (n.948-346G>A)
c.3441+16805C>T (n.3441+16805C>T)
c.*56G>A (n.*56G>A)
c.1231G>A (p.Gly411Arg)
c.276+16805C>T (n.276+16805C>T)
c.*220+5739G>A (n.*220+5739G>A)
c.355G>A (p.Gly119Arg)
c.382G>A (p.Gly128Arg)
c.1237G>A (p.Gly413Arg)
c.1051G>A (p.Gly351Arg)
c.970G>A (p.Gly324Arg)
c.676G>A (p.Gly226Arg)
c.1057G>A (p.Gly353Arg)
 gnomAD v4
2g.48688486A>CCA346747503GTF2A1L,LHCGR,STON1-GTF2A1Lc.1311T>G (p.Ser437Arg)
c.948-347T>G (n.948-347T>G)
c.3441+16806A>C (n.3441+16806A>C)
c.*55T>G (n.*55T>G)
c.1230T>G (p.Ser410Arg)
c.276+16806A>C (n.276+16806A>C)
c.*220+5738T>G (n.*220+5738T>G)
c.354T>G (p.Ser118Arg)
c.381T>G (p.Ser127Arg)
c.1236T>G (p.Ser412Arg)
c.1050T>G (p.Ser350Arg)
c.969T>G (p.Ser323Arg)
c.675T>G (p.Ser225Arg)
c.1056T>G (p.Ser352Arg)
2g.48688486A>GCA426125533GTF2A1L,LHCGR,STON1-GTF2A1Lc.1311T>C (p.Ser437=)
c.948-347T>C (n.948-347T>C)
c.3441+16806A>G (n.3441+16806A>G)
c.*55T>C (n.*55T>C)
c.1230T>C (p.Ser410=)
c.276+16806A>G (n.276+16806A>G)
c.*220+5738T>C (n.*220+5738T>C)
c.354T>C (p.Ser118=)
c.381T>C (p.Ser127=)
c.1236T>C (p.Ser412=)
c.1050T>C (p.Ser350=)
c.969T>C (p.Ser323=)
c.675T>C (p.Ser225=)
c.1056T>C (p.Ser352=)
 gnomAD v4
2g.48688486A>TCA346747504GTF2A1L,LHCGR,STON1-GTF2A1Lc.1311T>A (p.Ser437Arg)
c.948-347T>A (n.948-347T>A)
c.3441+16806A>T (n.3441+16806A>T)
c.*55T>A (n.*55T>A)
c.1230T>A (p.Ser410Arg)
c.276+16806A>T (n.276+16806A>T)
c.*220+5738T>A (n.*220+5738T>A)
c.354T>A (p.Ser118Arg)
c.381T>A (p.Ser127Arg)
c.1236T>A (p.Ser412Arg)
c.1050T>A (p.Ser350Arg)
c.969T>A (p.Ser323Arg)
c.675T>A (p.Ser225Arg)
c.1056T>A (p.Ser352Arg)
2g.48688487C>ACA346747507GTF2A1L,LHCGR,STON1-GTF2A1Lc.1310G>T (p.Ser437Ile)
c.948-348G>T (n.948-348G>T)
c.3441+16807C>A (n.3441+16807C>A)
c.*54G>T (n.*54G>T)
c.1229G>T (p.Ser410Ile)
c.276+16807C>A (n.276+16807C>A)
c.*220+5737G>T (n.*220+5737G>T)
c.353G>T (p.Ser118Ile)
c.380G>T (p.Ser127Ile)
c.1235G>T (p.Ser412Ile)
c.1049G>T (p.Ser350Ile)
c.968G>T (p.Ser323Ile)
c.674G>T (p.Ser225Ile)
c.1055G>T (p.Ser352Ile)
2g.48688487C>GCA346747508GTF2A1L,LHCGR,STON1-GTF2A1Lc.1310G>C (p.Ser437Thr)
c.948-348G>C (n.948-348G>C)
c.3441+16807C>G (n.3441+16807C>G)
c.*54G>C (n.*54G>C)
c.1229G>C (p.Ser410Thr)
c.276+16807C>G (n.276+16807C>G)
c.*220+5737G>C (n.*220+5737G>C)
c.353G>C (p.Ser118Thr)
c.380G>C (p.Ser127Thr)
c.1235G>C (p.Ser412Thr)
c.1049G>C (p.Ser350Thr)
c.968G>C (p.Ser323Thr)
c.674G>C (p.Ser225Thr)
c.1055G>C (p.Ser352Thr)
2g.48688487C>TCA346747510GTF2A1L,LHCGR,STON1-GTF2A1Lc.1310G>A (p.Ser437Asn)
c.948-348G>A (n.948-348G>A)
c.3441+16807C>T (n.3441+16807C>T)
c.*54G>A (n.*54G>A)
c.1229G>A (p.Ser410Asn)
c.276+16807C>T (n.276+16807C>T)
c.*220+5737G>A (n.*220+5737G>A)
c.353G>A (p.Ser118Asn)
c.380G>A (p.Ser127Asn)
c.1235G>A (p.Ser412Asn)
c.1049G>A (p.Ser350Asn)
c.968G>A (p.Ser323Asn)
c.674G>A (p.Ser225Asn)
c.1055G>A (p.Ser352Asn)
2g.48688488T>ACA346747511GTF2A1L,LHCGR,STON1-GTF2A1Lc.1309A>T (p.Ser437Cys)
c.948-349A>T (n.948-349A>T)
c.3441+16808T>A (n.3441+16808T>A)
c.*53A>T (n.*53A>T)
c.1228A>T (p.Ser410Cys)
c.276+16808T>A (n.276+16808T>A)
c.*220+5736A>T (n.*220+5736A>T)
c.352A>T (p.Ser118Cys)
c.379A>T (p.Ser127Cys)
c.1234A>T (p.Ser412Cys)
c.1048A>T (p.Ser350Cys)
c.967A>T (p.Ser323Cys)
c.673A>T (p.Ser225Cys)
c.1054A>T (p.Ser352Cys)
2g.48688488T>CCA346747513GTF2A1L,LHCGR,STON1-GTF2A1Lc.1309A>G (p.Ser437Gly)
c.948-349A>G (n.948-349A>G)
c.3441+16808T>C (n.3441+16808T>C)
c.*53A>G (n.*53A>G)
c.1228A>G (p.Ser410Gly)
c.276+16808T>C (n.276+16808T>C)
c.*220+5736A>G (n.*220+5736A>G)
c.352A>G (p.Ser118Gly)
c.379A>G (p.Ser127Gly)
c.1234A>G (p.Ser412Gly)
c.1048A>G (p.Ser350Gly)
c.967A>G (p.Ser323Gly)
c.673A>G (p.Ser225Gly)
c.1054A>G (p.Ser352Gly)
2g.48688488T>GCA346747514GTF2A1L,LHCGR,STON1-GTF2A1Lc.1309A>C (p.Ser437Arg)
c.948-349A>C (n.948-349A>C)
c.3441+16808T>G (n.3441+16808T>G)
c.*53A>C (n.*53A>C)
c.1228A>C (p.Ser410Arg)
c.276+16808T>G (n.276+16808T>G)
c.*220+5736A>C (n.*220+5736A>C)
c.352A>C (p.Ser118Arg)
c.379A>C (p.Ser127Arg)
c.1234A>C (p.Ser412Arg)
c.1048A>C (p.Ser350Arg)
c.967A>C (p.Ser323Arg)
c.673A>C (p.Ser225Arg)
c.1054A>C (p.Ser352Arg)
2g.48688489C>ACA46753041GTF2A1L,LHCGR,STON1-GTF2A1Lc.1308G>T (p.Gly436=)
c.948-350G>T (n.948-350G>T)
c.3441+16809C>A (n.3441+16809C>A)
c.*52G>T (n.*52G>T)
c.1227G>T (p.Gly409=)
c.276+16809C>A (n.276+16809C>A)
c.*220+5735G>T (n.*220+5735G>T)
c.351G>T (p.Gly117=)
c.378G>T (p.Gly126=)
c.1233G>T (p.Gly411=)
c.1047G>T (p.Gly349=)
c.966G>T (p.Gly322=)
c.672G>T (p.Gly224=)
c.1053G>T (p.Gly351=)
 dbSNP
2g.48688489C=CA1248601155GTF2A1L,LHCGR,STON1-GTF2A1Lc.1308G= (p.Gly436=)
c.948-350G= (n.948-350G=)
c.3441+16809C= (n.3441+16809C=)
c.*52G= (n.*52G=)
c.1227G= (p.Gly409=)
c.276+16809C= (n.276+16809C=)
c.*220+5735G= (n.*220+5735G=)
c.351G= (p.Gly117=)
c.378G= (p.Gly126=)
c.1233G= (p.Gly411=)
c.1047G= (p.Gly349=)
c.966G= (p.Gly322=)
c.672G= (p.Gly224=)
c.1053G= (p.Gly351=)
2g.48688489C>GCA426125542GTF2A1L,LHCGR,STON1-GTF2A1Lc.1308G>C (p.Gly436=)
c.948-350G>C (n.948-350G>C)
c.3441+16809C>G (n.3441+16809C>G)
c.*52G>C (n.*52G>C)
c.1227G>C (p.Gly409=)
c.276+16809C>G (n.276+16809C>G)
c.*220+5735G>C (n.*220+5735G>C)
c.351G>C (p.Gly117=)
c.378G>C (p.Gly126=)
c.1233G>C (p.Gly411=)
c.1047G>C (p.Gly349=)
c.966G>C (p.Gly322=)
c.672G>C (p.Gly224=)
c.1053G>C (p.Gly351=)
 dbSNP gnomAD v3 gnomAD v4
2g.48688489C>TCA1653047GTF2A1L,LHCGR,STON1-GTF2A1Lc.1308G>A (p.Gly436=)
c.948-350G>A (n.948-350G>A)
c.3441+16809C>T (n.3441+16809C>T)
c.*52G>A (n.*52G>A)
c.1227G>A (p.Gly409=)
c.276+16809C>T (n.276+16809C>T)
c.*220+5735G>A (n.*220+5735G>A)
c.351G>A (p.Gly117=)
c.378G>A (p.Gly126=)
c.1233G>A (p.Gly411=)
c.1047G>A (p.Gly349=)
c.966G>A (p.Gly322=)
c.672G>A (p.Gly224=)
c.1053G>A (p.Gly351=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688490C>ACA346747518GTF2A1L,LHCGR,STON1-GTF2A1Lc.1307G>T (p.Gly436Val)
c.948-351G>T (n.948-351G>T)
c.3441+16810C>A (n.3441+16810C>A)
c.*51G>T (n.*51G>T)
c.1226G>T (p.Gly409Val)
c.276+16810C>A (n.276+16810C>A)
c.*220+5734G>T (n.*220+5734G>T)
c.350G>T (p.Gly117Val)
c.377G>T (p.Gly126Val)
c.1232G>T (p.Gly411Val)
c.1046G>T (p.Gly349Val)
c.965G>T (p.Gly322Val)
c.671G>T (p.Gly224Val)
c.1052G>T (p.Gly351Val)
 dbSNP
2g.48688490C=CA1248601156GTF2A1L,LHCGR,STON1-GTF2A1Lc.1307G= (p.Gly436=)
c.948-351G= (n.948-351G=)
c.3441+16810C= (n.3441+16810C=)
c.*51G= (n.*51G=)
c.1226G= (p.Gly409=)
c.276+16810C= (n.276+16810C=)
c.*220+5734G= (n.*220+5734G=)
c.350G= (p.Gly117=)
c.377G= (p.Gly126=)
c.1232G= (p.Gly411=)
c.1046G= (p.Gly349=)
c.965G= (p.Gly322=)
c.671G= (p.Gly224=)
c.1052G= (p.Gly351=)
2g.48688490C>GCA346747520GTF2A1L,LHCGR,STON1-GTF2A1Lc.1307G>C (p.Gly436Ala)
c.948-351G>C (n.948-351G>C)
c.3441+16810C>G (n.3441+16810C>G)
c.*51G>C (n.*51G>C)
c.1226G>C (p.Gly409Ala)
c.276+16810C>G (n.276+16810C>G)
c.*220+5734G>C (n.*220+5734G>C)
c.350G>C (p.Gly117Ala)
c.377G>C (p.Gly126Ala)
c.1232G>C (p.Gly411Ala)
c.1046G>C (p.Gly349Ala)
c.965G>C (p.Gly322Ala)
c.671G>C (p.Gly224Ala)
c.1052G>C (p.Gly351Ala)
2g.48688490C>TCA346747517GTF2A1L,LHCGR,STON1-GTF2A1Lc.1307G>A (p.Gly436Glu)
c.948-351G>A (n.948-351G>A)
c.3441+16810C>T (n.3441+16810C>T)
c.*51G>A (n.*51G>A)
c.1226G>A (p.Gly409Glu)
c.276+16810C>T (n.276+16810C>T)
c.*220+5734G>A (n.*220+5734G>A)
c.350G>A (p.Gly117Glu)
c.377G>A (p.Gly126Glu)
c.1232G>A (p.Gly411Glu)
c.1046G>A (p.Gly349Glu)
c.965G>A (p.Gly322Glu)
c.671G>A (p.Gly224Glu)
c.1052G>A (p.Gly351Glu)
 COSMIC
2g.48688491C>ACA346747522GTF2A1L,LHCGR,STON1-GTF2A1Lc.1306G>T (p.Gly436Trp)
c.948-352G>T (n.948-352G>T)
c.3441+16811C>A (n.3441+16811C>A)
c.*50G>T (n.*50G>T)
c.1225G>T (p.Gly409Trp)
c.276+16811C>A (n.276+16811C>A)
c.*220+5733G>T (n.*220+5733G>T)
c.349G>T (p.Gly117Trp)
c.376G>T (p.Gly126Trp)
c.1231G>T (p.Gly411Trp)
c.1045G>T (p.Gly349Trp)
c.964G>T (p.Gly322Trp)
c.670G>T (p.Gly224Trp)
c.1051G>T (p.Gly351Trp)
2g.48688491C>GCA346747523GTF2A1L,LHCGR,STON1-GTF2A1Lc.1306G>C (p.Gly436Arg)
c.948-352G>C (n.948-352G>C)
c.3441+16811C>G (n.3441+16811C>G)
c.*50G>C (n.*50G>C)
c.1225G>C (p.Gly409Arg)
c.276+16811C>G (n.276+16811C>G)
c.*220+5733G>C (n.*220+5733G>C)
c.349G>C (p.Gly117Arg)
c.376G>C (p.Gly126Arg)
c.1231G>C (p.Gly411Arg)
c.1045G>C (p.Gly349Arg)
c.964G>C (p.Gly322Arg)
c.670G>C (p.Gly224Arg)
c.1051G>C (p.Gly351Arg)
2g.48688491C>TCA346747524GTF2A1L,LHCGR,STON1-GTF2A1Lc.1306G>A (p.Gly436Arg)
c.948-352G>A (n.948-352G>A)
c.3441+16811C>T (n.3441+16811C>T)
c.*50G>A (n.*50G>A)
c.1225G>A (p.Gly409Arg)
c.276+16811C>T (n.276+16811C>T)
c.*220+5733G>A (n.*220+5733G>A)
c.349G>A (p.Gly117Arg)
c.376G>A (p.Gly126Arg)
c.1231G>A (p.Gly411Arg)
c.1045G>A (p.Gly349Arg)
c.964G>A (p.Gly322Arg)
c.670G>A (p.Gly224Arg)
c.1051G>A (p.Gly351Arg)
2g.48688492T>ACA426125545GTF2A1L,LHCGR,STON1-GTF2A1Lc.1305A>T (p.Thr435=)
c.948-353A>T (n.948-353A>T)
c.3441+16812T>A (n.3441+16812T>A)
c.*49A>T (n.*49A>T)
c.1224A>T (p.Thr408=)
c.276+16812T>A (n.276+16812T>A)
c.*220+5732A>T (n.*220+5732A>T)
c.348A>T (p.Thr116=)
c.375A>T (p.Thr125=)
c.1230A>T (p.Thr410=)
c.1044A>T (p.Thr348=)
c.963A>T (p.Thr321=)
c.669A>T (p.Thr223=)
c.1050A>T (p.Thr350=)
2g.48688492T>CCA46753055GTF2A1L,LHCGR,STON1-GTF2A1Lc.1305A>G (p.Thr435=)
c.948-353A>G (n.948-353A>G)
c.3441+16812T>C (n.3441+16812T>C)
c.*49A>G (n.*49A>G)
c.1224A>G (p.Thr408=)
c.276+16812T>C (n.276+16812T>C)
c.*220+5732A>G (n.*220+5732A>G)
c.348A>G (p.Thr116=)
c.375A>G (p.Thr125=)
c.1230A>G (p.Thr410=)
c.1044A>G (p.Thr348=)
c.963A>G (p.Thr321=)
c.669A>G (p.Thr223=)
c.1050A>G (p.Thr350=)
 dbSNP gnomAD v4
2g.48688492T>GCA426125555GTF2A1L,LHCGR,STON1-GTF2A1Lc.1305A>C (p.Thr435=)
c.948-353A>C (n.948-353A>C)
c.3441+16812T>G (n.3441+16812T>G)
c.*49A>C (n.*49A>C)
c.1224A>C (p.Thr408=)
c.276+16812T>G (n.276+16812T>G)
c.*220+5732A>C (n.*220+5732A>C)
c.348A>C (p.Thr116=)
c.375A>C (p.Thr125=)
c.1230A>C (p.Thr410=)
c.1044A>C (p.Thr348=)
c.963A>C (p.Thr321=)
c.669A>C (p.Thr223=)
c.1050A>C (p.Thr350=)
2g.48688492T=CA1248601157GTF2A1L,LHCGR,STON1-GTF2A1Lc.1305A= (p.Thr435=)
c.948-353A= (n.948-353A=)
c.3441+16812T= (n.3441+16812T=)
c.*49A= (n.*49A=)
c.1224A= (p.Thr408=)
c.276+16812T= (n.276+16812T=)
c.*220+5732A= (n.*220+5732A=)
c.348A= (p.Thr116=)
c.375A= (p.Thr125=)
c.1230A= (p.Thr410=)
c.1044A= (p.Thr348=)
c.963A= (p.Thr321=)
c.669A= (p.Thr223=)
c.1050A= (p.Thr350=)
2g.48688493G>ACA346747526GTF2A1L,LHCGR,STON1-GTF2A1Lc.1304C>T (p.Thr435Ile)
c.948-354C>T (n.948-354C>T)
c.3441+16813G>A (n.3441+16813G>A)
c.*48C>T (n.*48C>T)
c.1223C>T (p.Thr408Ile)
c.276+16813G>A (n.276+16813G>A)
c.*220+5731C>T (n.*220+5731C>T)
c.347C>T (p.Thr116Ile)
c.374C>T (p.Thr125Ile)
c.1229C>T (p.Thr410Ile)
c.1043C>T (p.Thr348Ile)
c.962C>T (p.Thr321Ile)
c.668C>T (p.Thr223Ile)
c.1049C>T (p.Thr350Ile)
 gnomAD v4
2g.48688493G>CCA346747527GTF2A1L,LHCGR,STON1-GTF2A1Lc.1304C>G (p.Thr435Arg)
c.948-354C>G (n.948-354C>G)
c.3441+16813G>C (n.3441+16813G>C)
c.*48C>G (n.*48C>G)
c.1223C>G (p.Thr408Arg)
c.276+16813G>C (n.276+16813G>C)
c.*220+5731C>G (n.*220+5731C>G)
c.347C>G (p.Thr116Arg)
c.374C>G (p.Thr125Arg)
c.1229C>G (p.Thr410Arg)
c.1043C>G (p.Thr348Arg)
c.962C>G (p.Thr321Arg)
c.668C>G (p.Thr223Arg)
c.1049C>G (p.Thr350Arg)
2g.48688493G>TCA346747529GTF2A1L,LHCGR,STON1-GTF2A1Lc.1304C>A (p.Thr435Lys)
c.948-354C>A (n.948-354C>A)
c.3441+16813G>T (n.3441+16813G>T)
c.*48C>A (n.*48C>A)
c.1223C>A (p.Thr408Lys)
c.276+16813G>T (n.276+16813G>T)
c.*220+5731C>A (n.*220+5731C>A)
c.347C>A (p.Thr116Lys)
c.374C>A (p.Thr125Lys)
c.1229C>A (p.Thr410Lys)
c.1043C>A (p.Thr348Lys)
c.962C>A (p.Thr321Lys)
c.668C>A (p.Thr223Lys)
c.1049C>A (p.Thr350Lys)
2g.48688494T>ACA346747534GTF2A1L,LHCGR,STON1-GTF2A1Lc.1303A>T (p.Thr435Ser)
c.948-355A>T (n.948-355A>T)
c.3441+16814T>A (n.3441+16814T>A)
c.*47A>T (n.*47A>T)
c.1222A>T (p.Thr408Ser)
c.276+16814T>A (n.276+16814T>A)
c.*220+5730A>T (n.*220+5730A>T)
c.346A>T (p.Thr116Ser)
c.373A>T (p.Thr125Ser)
c.1228A>T (p.Thr410Ser)
c.1042A>T (p.Thr348Ser)
c.961A>T (p.Thr321Ser)
c.667A>T (p.Thr223Ser)
c.1048A>T (p.Thr350Ser)
2g.48688494T>CCA346747531GTF2A1L,LHCGR,STON1-GTF2A1Lc.1303A>G (p.Thr435Ala)
c.948-355A>G (n.948-355A>G)
c.3441+16814T>C (n.3441+16814T>C)
c.*47A>G (n.*47A>G)
c.1222A>G (p.Thr408Ala)
c.276+16814T>C (n.276+16814T>C)
c.*220+5730A>G (n.*220+5730A>G)
c.346A>G (p.Thr116Ala)
c.373A>G (p.Thr125Ala)
c.1228A>G (p.Thr410Ala)
c.1042A>G (p.Thr348Ala)
c.961A>G (p.Thr321Ala)
c.667A>G (p.Thr223Ala)
c.1048A>G (p.Thr350Ala)
2g.48688494T>GCA346747533GTF2A1L,LHCGR,STON1-GTF2A1Lc.1303A>C (p.Thr435Pro)
c.948-355A>C (n.948-355A>C)
c.3441+16814T>G (n.3441+16814T>G)
c.*47A>C (n.*47A>C)
c.1222A>C (p.Thr408Pro)
c.276+16814T>G (n.276+16814T>G)
c.*220+5730A>C (n.*220+5730A>C)
c.346A>C (p.Thr116Pro)
c.373A>C (p.Thr125Pro)
c.1228A>C (p.Thr410Pro)
c.1042A>C (p.Thr348Pro)
c.961A>C (p.Thr321Pro)
c.667A>C (p.Thr223Pro)
c.1048A>C (p.Thr350Pro)
2g.48688495C>ACA346747536GTF2A1L,LHCGR,STON1-GTF2A1Lc.1302G>T (p.Gln434His)
c.948-356G>T (n.948-356G>T)
c.3441+16815C>A (n.3441+16815C>A)
c.*46G>T (n.*46G>T)
c.1221G>T (p.Gln407His)
c.276+16815C>A (n.276+16815C>A)
c.*220+5729G>T (n.*220+5729G>T)
c.345G>T (p.Gln115His)
c.372G>T (p.Gln124His)
c.1227G>T (p.Gln409His)
c.1041G>T (p.Gln347His)
c.960G>T (p.Gln320His)
c.666G>T (p.Gln222His)
c.1047G>T (p.Gln349His)
2g.48688495C>GCA346747537GTF2A1L,LHCGR,STON1-GTF2A1Lc.1302G>C (p.Gln434His)
c.948-356G>C (n.948-356G>C)
c.3441+16815C>G (n.3441+16815C>G)
c.*46G>C (n.*46G>C)
c.1221G>C (p.Gln407His)
c.276+16815C>G (n.276+16815C>G)
c.*220+5729G>C (n.*220+5729G>C)
c.345G>C (p.Gln115His)
c.372G>C (p.Gln124His)
c.1227G>C (p.Gln409His)
c.1041G>C (p.Gln347His)
c.960G>C (p.Gln320His)
c.666G>C (p.Gln222His)
c.1047G>C (p.Gln349His)
2g.48688495C>TCA426125564GTF2A1L,LHCGR,STON1-GTF2A1Lc.1302G>A (p.Gln434=)
c.948-356G>A (n.948-356G>A)
c.3441+16815C>T (n.3441+16815C>T)
c.*46G>A (n.*46G>A)
c.1221G>A (p.Gln407=)
c.276+16815C>T (n.276+16815C>T)
c.*220+5729G>A (n.*220+5729G>A)
c.345G>A (p.Gln115=)
c.372G>A (p.Gln124=)
c.1227G>A (p.Gln409=)
c.1041G>A (p.Gln347=)
c.960G>A (p.Gln320=)
c.666G>A (p.Gln222=)
c.1047G>A (p.Gln349=)
2g.48688496T>ACA346747539GTF2A1L,LHCGR,STON1-GTF2A1Lc.1301A>T (p.Gln434Leu)
c.948-357A>T (n.948-357A>T)
c.3441+16816T>A (n.3441+16816T>A)
c.*45A>T (n.*45A>T)
c.1220A>T (p.Gln407Leu)
c.276+16816T>A (n.276+16816T>A)
c.*220+5728A>T (n.*220+5728A>T)
c.344A>T (p.Gln115Leu)
c.371A>T (p.Gln124Leu)
c.1226A>T (p.Gln409Leu)
c.1040A>T (p.Gln347Leu)
c.959A>T (p.Gln320Leu)
c.665A>T (p.Gln222Leu)
c.1046A>T (p.Gln349Leu)
2g.48688496T>CCA346747541GTF2A1L,LHCGR,STON1-GTF2A1Lc.1301A>G (p.Gln434Arg)
c.948-357A>G (n.948-357A>G)
c.3441+16816T>C (n.3441+16816T>C)
c.*45A>G (n.*45A>G)
c.1220A>G (p.Gln407Arg)
c.276+16816T>C (n.276+16816T>C)
c.*220+5728A>G (n.*220+5728A>G)
c.344A>G (p.Gln115Arg)
c.371A>G (p.Gln124Arg)
c.1226A>G (p.Gln409Arg)
c.1040A>G (p.Gln347Arg)
c.959A>G (p.Gln320Arg)
c.665A>G (p.Gln222Arg)
c.1046A>G (p.Gln349Arg)
2g.48688496T>GCA346747542GTF2A1L,LHCGR,STON1-GTF2A1Lc.1301A>C (p.Gln434Pro)
c.948-357A>C (n.948-357A>C)
c.3441+16816T>G (n.3441+16816T>G)
c.*45A>C (n.*45A>C)
c.1220A>C (p.Gln407Pro)
c.276+16816T>G (n.276+16816T>G)
c.*220+5728A>C (n.*220+5728A>C)
c.344A>C (p.Gln115Pro)
c.371A>C (p.Gln124Pro)
c.1226A>C (p.Gln409Pro)
c.1040A>C (p.Gln347Pro)
c.959A>C (p.Gln320Pro)
c.665A>C (p.Gln222Pro)
c.1046A>C (p.Gln349Pro)
2g.48688497G>ACA346747543GTF2A1L,LHCGR,STON1-GTF2A1Lc.1300C>T (p.Gln434Ter)
c.948-358C>T (n.948-358C>T)
c.3441+16817G>A (n.3441+16817G>A)
c.*44C>T (n.*44C>T)
c.1219C>T (p.Gln407Ter)
c.276+16817G>A (n.276+16817G>A)
c.*220+5727C>T (n.*220+5727C>T)
c.343C>T (p.Gln115Ter)
c.370C>T (p.Gln124Ter)
c.1225C>T (p.Gln409Ter)
c.1039C>T (p.Gln347Ter)
c.958C>T (p.Gln320Ter)
c.664C>T (p.Gln222Ter)
c.1045C>T (p.Gln349Ter)
2g.48688497G>CCA1653048GTF2A1L,LHCGR,STON1-GTF2A1Lc.1300C>G (p.Gln434Glu)
c.948-358C>G (n.948-358C>G)
c.3441+16817G>C (n.3441+16817G>C)
c.*44C>G (n.*44C>G)
c.1219C>G (p.Gln407Glu)
c.276+16817G>C (n.276+16817G>C)
c.*220+5727C>G (n.*220+5727C>G)
c.343C>G (p.Gln115Glu)
c.370C>G (p.Gln124Glu)
c.1225C>G (p.Gln409Glu)
c.1039C>G (p.Gln347Glu)
c.958C>G (p.Gln320Glu)
c.664C>G (p.Gln222Glu)
c.1045C>G (p.Gln349Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688497G=CA1248601158GTF2A1L,LHCGR,STON1-GTF2A1Lc.1300C= (p.Gln434=)
c.948-358C= (n.948-358C=)
c.3441+16817G= (n.3441+16817G=)
c.*44C= (n.*44C=)
c.1219C= (p.Gln407=)
c.276+16817G= (n.276+16817G=)
c.*220+5727C= (n.*220+5727C=)
c.343C= (p.Gln115=)
c.370C= (p.Gln124=)
c.1225C= (p.Gln409=)
c.1039C= (p.Gln347=)
c.958C= (p.Gln320=)
c.664C= (p.Gln222=)
c.1045C= (p.Gln349=)
2g.48688497G>TCA346747545GTF2A1L,LHCGR,STON1-GTF2A1Lc.1300C>A (p.Gln434Lys)
c.948-358C>A (n.948-358C>A)
c.3441+16817G>T (n.3441+16817G>T)
c.*44C>A (n.*44C>A)
c.1219C>A (p.Gln407Lys)
c.276+16817G>T (n.276+16817G>T)
c.*220+5727C>A (n.*220+5727C>A)
c.343C>A (p.Gln115Lys)
c.370C>A (p.Gln124Lys)
c.1225C>A (p.Gln409Lys)
c.1039C>A (p.Gln347Lys)
c.958C>A (p.Gln320Lys)
c.664C>A (p.Gln222Lys)
c.1045C>A (p.Gln349Lys)
 COSMIC
2g.48688498C>ACA346747547GTF2A1L,LHCGR,STON1-GTF2A1Lc.1299G>T (p.Trp433Cys)
c.948-359G>T (n.948-359G>T)
c.3441+16818C>A (n.3441+16818C>A)
c.*43G>T (n.*43G>T)
c.1218G>T (p.Trp406Cys)
c.276+16818C>A (n.276+16818C>A)
c.*220+5726G>T (n.*220+5726G>T)
c.342G>T (p.Trp114Cys)
c.369G>T (p.Trp123Cys)
c.1224G>T (p.Trp408Cys)
c.1038G>T (p.Trp346Cys)
c.957G>T (p.Trp319Cys)
c.663G>T (p.Trp221Cys)
c.1044G>T (p.Trp348Cys)
 COSMIC
2g.48688498C>GCA346747549GTF2A1L,LHCGR,STON1-GTF2A1Lc.1299G>C (p.Trp433Cys)
c.948-359G>C (n.948-359G>C)
c.3441+16818C>G (n.3441+16818C>G)
c.*43G>C (n.*43G>C)
c.1218G>C (p.Trp406Cys)
c.276+16818C>G (n.276+16818C>G)
c.*220+5726G>C (n.*220+5726G>C)
c.342G>C (p.Trp114Cys)
c.369G>C (p.Trp123Cys)
c.1224G>C (p.Trp408Cys)
c.1038G>C (p.Trp346Cys)
c.957G>C (p.Trp319Cys)
c.663G>C (p.Trp221Cys)
c.1044G>C (p.Trp348Cys)
2g.48688498C>TCA346747550GTF2A1L,LHCGR,STON1-GTF2A1Lc.1299G>A (p.Trp433Ter)
c.948-359G>A (n.948-359G>A)
c.3441+16818C>T (n.3441+16818C>T)
c.*43G>A (n.*43G>A)
c.1218G>A (p.Trp406Ter)
c.276+16818C>T (n.276+16818C>T)
c.*220+5726G>A (n.*220+5726G>A)
c.342G>A (p.Trp114Ter)
c.369G>A (p.Trp123Ter)
c.1224G>A (p.Trp408Ter)
c.1038G>A (p.Trp346Ter)
c.957G>A (p.Trp319Ter)
c.663G>A (p.Trp221Ter)
c.1044G>A (p.Trp348Ter)
2g.48688499C>ACA346747552GTF2A1L,LHCGR,STON1-GTF2A1Lc.1298G>T (p.Trp433Leu)
c.948-360G>T (n.948-360G>T)
c.3441+16819C>A (n.3441+16819C>A)
c.*42G>T (n.*42G>T)
c.1217G>T (p.Trp406Leu)
c.276+16819C>A (n.276+16819C>A)
c.*220+5725G>T (n.*220+5725G>T)
c.341G>T (p.Trp114Leu)
c.368G>T (p.Trp123Leu)
c.1223G>T (p.Trp408Leu)
c.1037G>T (p.Trp346Leu)
c.956G>T (p.Trp319Leu)
c.662G>T (p.Trp221Leu)
c.1043G>T (p.Trp348Leu)
2g.48688499C>GCA346747553GTF2A1L,LHCGR,STON1-GTF2A1Lc.1298G>C (p.Trp433Ser)
c.948-360G>C (n.948-360G>C)
c.3441+16819C>G (n.3441+16819C>G)
c.*42G>C (n.*42G>C)
c.1217G>C (p.Trp406Ser)
c.276+16819C>G (n.276+16819C>G)
c.*220+5725G>C (n.*220+5725G>C)
c.341G>C (p.Trp114Ser)
c.368G>C (p.Trp123Ser)
c.1223G>C (p.Trp408Ser)
c.1037G>C (p.Trp346Ser)
c.956G>C (p.Trp319Ser)
c.662G>C (p.Trp221Ser)
c.1043G>C (p.Trp348Ser)
2g.48688499C>TCA346747554GTF2A1L,LHCGR,STON1-GTF2A1Lc.1298G>A (p.Trp433Ter)
c.948-360G>A (n.948-360G>A)
c.3441+16819C>T (n.3441+16819C>T)
c.*42G>A (n.*42G>A)
c.1217G>A (p.Trp406Ter)
c.276+16819C>T (n.276+16819C>T)
c.*220+5725G>A (n.*220+5725G>A)
c.341G>A (p.Trp114Ter)
c.368G>A (p.Trp123Ter)
c.1223G>A (p.Trp408Ter)
c.1037G>A (p.Trp346Ter)
c.956G>A (p.Trp319Ter)
c.662G>A (p.Trp221Ter)
c.1043G>A (p.Trp348Ter)
2g.48688500A=CA1248601159GTF2A1L,LHCGR,STON1-GTF2A1Lc.1297T= (p.Trp433=)
c.948-361T= (n.948-361T=)
c.3441+16820A= (n.3441+16820A=)
c.*41T= (n.*41T=)
c.1216T= (p.Trp406=)
c.276+16820A= (n.276+16820A=)
c.*220+5724T= (n.*220+5724T=)
c.340T= (p.Trp114=)
c.367T= (p.Trp123=)
c.1222T= (p.Trp408=)
c.1036T= (p.Trp346=)
c.955T= (p.Trp319=)
c.661T= (p.Trp221=)
c.1042T= (p.Trp348=)
2g.48688500A>CCA346747555GTF2A1L,LHCGR,STON1-GTF2A1Lc.1297T>G (p.Trp433Gly)
c.948-361T>G (n.948-361T>G)
c.3441+16820A>C (n.3441+16820A>C)
c.*41T>G (n.*41T>G)
c.1216T>G (p.Trp406Gly)
c.276+16820A>C (n.276+16820A>C)
c.*220+5724T>G (n.*220+5724T>G)
c.340T>G (p.Trp114Gly)
c.367T>G (p.Trp123Gly)
c.1222T>G (p.Trp408Gly)
c.1036T>G (p.Trp346Gly)
c.955T>G (p.Trp319Gly)
c.661T>G (p.Trp221Gly)
c.1042T>G (p.Trp348Gly)
 dbSNP gnomAD v2 gnomAD v4
2g.48688500A>GCA346747557GTF2A1L,LHCGR,STON1-GTF2A1Lc.1297T>C (p.Trp433Arg)
c.948-361T>C (n.948-361T>C)
c.3441+16820A>G (n.3441+16820A>G)
c.*41T>C (n.*41T>C)
c.1216T>C (p.Trp406Arg)
c.276+16820A>G (n.276+16820A>G)
c.*220+5724T>C (n.*220+5724T>C)
c.340T>C (p.Trp114Arg)
c.367T>C (p.Trp123Arg)
c.1222T>C (p.Trp408Arg)
c.1036T>C (p.Trp346Arg)
c.955T>C (p.Trp319Arg)
c.661T>C (p.Trp221Arg)
c.1042T>C (p.Trp348Arg)
2g.48688500A>TCA346747559GTF2A1L,LHCGR,STON1-GTF2A1Lc.1297T>A (p.Trp433Arg)
c.948-361T>A (n.948-361T>A)
c.3441+16820A>T (n.3441+16820A>T)
c.*41T>A (n.*41T>A)
c.1216T>A (p.Trp406Arg)
c.276+16820A>T (n.276+16820A>T)
c.*220+5724T>A (n.*220+5724T>A)
c.340T>A (p.Trp114Arg)
c.367T>A (p.Trp123Arg)
c.1222T>A (p.Trp408Arg)
c.1036T>A (p.Trp346Arg)
c.955T>A (p.Trp319Arg)
c.661T>A (p.Trp221Arg)
c.1042T>A (p.Trp348Arg)
2g.48688501G>ACA426125583GTF2A1L,LHCGR,STON1-GTF2A1Lc.1296C>T (p.Asp432=)
c.948-362C>T (n.948-362C>T)
c.3441+16821G>A (n.3441+16821G>A)
c.*40C>T (n.*40C>T)
c.1215C>T (p.Asp405=)
c.276+16821G>A (n.276+16821G>A)
c.*220+5723C>T (n.*220+5723C>T)
c.339C>T (p.Asp113=)
c.366C>T (p.Asp122=)
c.1221C>T (p.Asp407=)
c.1035C>T (p.Asp345=)
c.954C>T (p.Asp318=)
c.660C>T (p.Asp220=)
c.1041C>T (p.Asp347=)
2g.48688501G>CCA346747561GTF2A1L,LHCGR,STON1-GTF2A1Lc.1296C>G (p.Asp432Glu)
c.948-362C>G (n.948-362C>G)
c.3441+16821G>C (n.3441+16821G>C)
c.*40C>G (n.*40C>G)
c.1215C>G (p.Asp405Glu)
c.276+16821G>C (n.276+16821G>C)
c.*220+5723C>G (n.*220+5723C>G)
c.339C>G (p.Asp113Glu)
c.366C>G (p.Asp122Glu)
c.1221C>G (p.Asp407Glu)
c.1035C>G (p.Asp345Glu)
c.954C>G (p.Asp318Glu)
c.660C>G (p.Asp220Glu)
c.1041C>G (p.Asp347Glu)
 dbSNP gnomAD v4
2g.48688501G=CA1248601160GTF2A1L,LHCGR,STON1-GTF2A1Lc.1296C= (p.Asp432=)
c.948-362C= (n.948-362C=)
c.3441+16821G= (n.3441+16821G=)
c.*40C= (n.*40C=)
c.1215C= (p.Asp405=)
c.276+16821G= (n.276+16821G=)
c.*220+5723C= (n.*220+5723C=)
c.339C= (p.Asp113=)
c.366C= (p.Asp122=)
c.1221C= (p.Asp407=)
c.1035C= (p.Asp345=)
c.954C= (p.Asp318=)
c.660C= (p.Asp220=)
c.1041C= (p.Asp347=)
2g.48688501G>TCA346747562GTF2A1L,LHCGR,STON1-GTF2A1Lc.1296C>A (p.Asp432Glu)
c.948-362C>A (n.948-362C>A)
c.3441+16821G>T (n.3441+16821G>T)
c.*40C>A (n.*40C>A)
c.1215C>A (p.Asp405Glu)
c.276+16821G>T (n.276+16821G>T)
c.*220+5723C>A (n.*220+5723C>A)
c.339C>A (p.Asp113Glu)
c.366C>A (p.Asp122Glu)
c.1221C>A (p.Asp407Glu)
c.1035C>A (p.Asp345Glu)
c.954C>A (p.Asp318Glu)
c.660C>A (p.Asp220Glu)
c.1041C>A (p.Asp347Glu)
 dbSNP
2g.48688502T>ACA346747563GTF2A1L,LHCGR,STON1-GTF2A1Lc.1295A>T (p.Asp432Val)
c.948-363A>T (n.948-363A>T)
c.3441+16822T>A (n.3441+16822T>A)
c.*39A>T (n.*39A>T)
c.1214A>T (p.Asp405Val)
c.276+16822T>A (n.276+16822T>A)
c.*220+5722A>T (n.*220+5722A>T)
c.338A>T (p.Asp113Val)
c.365A>T (p.Asp122Val)
c.1220A>T (p.Asp407Val)
c.1034A>T (p.Asp345Val)
c.953A>T (p.Asp318Val)
c.659A>T (p.Asp220Val)
c.1040A>T (p.Asp347Val)
2g.48688502T>CCA346747565GTF2A1L,LHCGR,STON1-GTF2A1Lc.1295A>G (p.Asp432Gly)
c.948-363A>G (n.948-363A>G)
c.3441+16822T>C (n.3441+16822T>C)
c.*39A>G (n.*39A>G)
c.1214A>G (p.Asp405Gly)
c.276+16822T>C (n.276+16822T>C)
c.*220+5722A>G (n.*220+5722A>G)
c.338A>G (p.Asp113Gly)
c.365A>G (p.Asp122Gly)
c.1220A>G (p.Asp407Gly)
c.1034A>G (p.Asp345Gly)
c.953A>G (p.Asp318Gly)
c.659A>G (p.Asp220Gly)
c.1040A>G (p.Asp347Gly)
2g.48688502T>GCA346747564GTF2A1L,LHCGR,STON1-GTF2A1Lc.1295A>C (p.Asp432Ala)
c.948-363A>C (n.948-363A>C)
c.3441+16822T>G (n.3441+16822T>G)
c.*39A>C (n.*39A>C)
c.1214A>C (p.Asp405Ala)
c.276+16822T>G (n.276+16822T>G)
c.*220+5722A>C (n.*220+5722A>C)
c.338A>C (p.Asp113Ala)
c.365A>C (p.Asp122Ala)
c.1220A>C (p.Asp407Ala)
c.1034A>C (p.Asp345Ala)
c.953A>C (p.Asp318Ala)
c.659A>C (p.Asp220Ala)
c.1040A>C (p.Asp347Ala)
2g.48688503C>ACA346747566GTF2A1L,LHCGR,STON1-GTF2A1Lc.1294G>T (p.Asp432Tyr)
c.948-364G>T (n.948-364G>T)
c.3441+16823C>A (n.3441+16823C>A)
c.*38G>T (n.*38G>T)
c.1213G>T (p.Asp405Tyr)
c.276+16823C>A (n.276+16823C>A)
c.*220+5721G>T (n.*220+5721G>T)
c.337G>T (p.Asp113Tyr)
c.364G>T (p.Asp122Tyr)
c.1219G>T (p.Asp407Tyr)
c.1033G>T (p.Asp345Tyr)
c.952G>T (p.Asp318Tyr)
c.658G>T (p.Asp220Tyr)
c.1039G>T (p.Asp347Tyr)
2g.48688503C>GCA346747568GTF2A1L,LHCGR,STON1-GTF2A1Lc.1294G>C (p.Asp432His)
c.948-364G>C (n.948-364G>C)
c.3441+16823C>G (n.3441+16823C>G)
c.*38G>C (n.*38G>C)
c.1213G>C (p.Asp405His)
c.276+16823C>G (n.276+16823C>G)
c.*220+5721G>C (n.*220+5721G>C)
c.337G>C (p.Asp113His)
c.364G>C (p.Asp122His)
c.1219G>C (p.Asp407His)
c.1033G>C (p.Asp345His)
c.952G>C (p.Asp318His)
c.658G>C (p.Asp220His)
c.1039G>C (p.Asp347His)
2g.48688503C>TCA346747567GTF2A1L,LHCGR,STON1-GTF2A1Lc.1294G>A (p.Asp432Asn)
c.948-364G>A (n.948-364G>A)
c.3441+16823C>T (n.3441+16823C>T)
c.*38G>A (n.*38G>A)
c.1213G>A (p.Asp405Asn)
c.276+16823C>T (n.276+16823C>T)
c.*220+5721G>A (n.*220+5721G>A)
c.337G>A (p.Asp113Asn)
c.364G>A (p.Asp122Asn)
c.1219G>A (p.Asp407Asn)
c.1033G>A (p.Asp345Asn)
c.952G>A (p.Asp318Asn)
c.658G>A (p.Asp220Asn)
c.1039G>A (p.Asp347Asn)
2g.48688504T>ACA426125589GTF2A1L,LHCGR,STON1-GTF2A1Lc.1293A>T (p.Ile431=)
c.948-365A>T (n.948-365A>T)
c.3441+16824T>A (n.3441+16824T>A)
c.*37A>T (n.*37A>T)
c.1212A>T (p.Ile404=)
c.276+16824T>A (n.276+16824T>A)
c.*220+5720A>T (n.*220+5720A>T)
c.336A>T (p.Ile112=)
c.363A>T (p.Ile121=)
c.1218A>T (p.Ile406=)
c.1032A>T (p.Ile344=)
c.951A>T (p.Ile317=)
c.657A>T (p.Ile219=)
c.1038A>T (p.Ile346=)
2g.48688504T>CCA346747569GTF2A1L,LHCGR,STON1-GTF2A1Lc.1293A>G (p.Ile431Met)
c.948-365A>G (n.948-365A>G)
c.3441+16824T>C (n.3441+16824T>C)
c.*37A>G (n.*37A>G)
c.1212A>G (p.Ile404Met)
c.276+16824T>C (n.276+16824T>C)
c.*220+5720A>G (n.*220+5720A>G)
c.336A>G (p.Ile112Met)
c.363A>G (p.Ile121Met)
c.1218A>G (p.Ile406Met)
c.1032A>G (p.Ile344Met)
c.951A>G (p.Ile317Met)
c.657A>G (p.Ile219Met)
c.1038A>G (p.Ile346Met)
 dbSNP
2g.48688504T>GCA426125591GTF2A1L,LHCGR,STON1-GTF2A1Lc.1293A>C (p.Ile431=)
c.948-365A>C (n.948-365A>C)
c.3441+16824T>G (n.3441+16824T>G)
c.*37A>C (n.*37A>C)
c.1212A>C (p.Ile404=)
c.276+16824T>G (n.276+16824T>G)
c.*220+5720A>C (n.*220+5720A>C)
c.336A>C (p.Ile112=)
c.363A>C (p.Ile121=)
c.1218A>C (p.Ile406=)
c.1032A>C (p.Ile344=)
c.951A>C (p.Ile317=)
c.657A>C (p.Ile219=)
c.1038A>C (p.Ile346=)
 COSMIC
2g.48688504T=CA1248601161GTF2A1L,LHCGR,STON1-GTF2A1Lc.1293A= (p.Ile431=)
c.948-365A= (n.948-365A=)
c.3441+16824T= (n.3441+16824T=)
c.*37A= (n.*37A=)
c.1212A= (p.Ile404=)
c.276+16824T= (n.276+16824T=)
c.*220+5720A= (n.*220+5720A=)
c.336A= (p.Ile112=)
c.363A= (p.Ile121=)
c.1218A= (p.Ile406=)
c.1032A= (p.Ile344=)
c.951A= (p.Ile317=)
c.657A= (p.Ile219=)
c.1038A= (p.Ile346=)
2g.48688505A=CA1248601162GTF2A1L,LHCGR,STON1-GTF2A1Lc.1292T= (p.Ile431=)
c.948-366T= (n.948-366T=)
c.3441+16825A= (n.3441+16825A=)
c.*36T= (n.*36T=)
c.1211T= (p.Ile404=)
c.276+16825A= (n.276+16825A=)
c.*220+5719T= (n.*220+5719T=)
c.335T= (p.Ile112=)
c.362T= (p.Ile121=)
c.1217T= (p.Ile406=)
c.1031T= (p.Ile344=)
c.950T= (p.Ile317=)
c.656T= (p.Ile219=)
c.1037T= (p.Ile346=)
2g.48688505A>CCA346747570GTF2A1L,LHCGR,STON1-GTF2A1Lc.1292T>G (p.Ile431Arg)
c.948-366T>G (n.948-366T>G)
c.3441+16825A>C (n.3441+16825A>C)
c.*36T>G (n.*36T>G)
c.1211T>G (p.Ile404Arg)
c.276+16825A>C (n.276+16825A>C)
c.*220+5719T>G (n.*220+5719T>G)
c.335T>G (p.Ile112Arg)
c.362T>G (p.Ile121Arg)
c.1217T>G (p.Ile406Arg)
c.1031T>G (p.Ile344Arg)
c.950T>G (p.Ile317Arg)
c.656T>G (p.Ile219Arg)
c.1037T>G (p.Ile346Arg)
2g.48688505A>GCA1653049GTF2A1L,LHCGR,STON1-GTF2A1Lc.1292T>C (p.Ile431Thr)
c.948-366T>C (n.948-366T>C)
c.3441+16825A>G (n.3441+16825A>G)
c.*36T>C (n.*36T>C)
c.1211T>C (p.Ile404Thr)
c.276+16825A>G (n.276+16825A>G)
c.*220+5719T>C (n.*220+5719T>C)
c.335T>C (p.Ile112Thr)
c.362T>C (p.Ile121Thr)
c.1217T>C (p.Ile406Thr)
c.1031T>C (p.Ile344Thr)
c.950T>C (p.Ile317Thr)
c.656T>C (p.Ile219Thr)
c.1037T>C (p.Ile346Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688505A>TCA346747571GTF2A1L,LHCGR,STON1-GTF2A1Lc.1292T>A (p.Ile431Lys)
c.948-366T>A (n.948-366T>A)
c.3441+16825A>T (n.3441+16825A>T)
c.*36T>A (n.*36T>A)
c.1211T>A (p.Ile404Lys)
c.276+16825A>T (n.276+16825A>T)
c.*220+5719T>A (n.*220+5719T>A)
c.335T>A (p.Ile112Lys)
c.362T>A (p.Ile121Lys)
c.1217T>A (p.Ile406Lys)
c.1031T>A (p.Ile344Lys)
c.950T>A (p.Ile317Lys)
c.656T>A (p.Ile219Lys)
c.1037T>A (p.Ile346Lys)
2g.48688506T>ACA346747572GTF2A1L,LHCGR,STON1-GTF2A1Lc.1291A>T (p.Ile431Leu)
c.948-367A>T (n.948-367A>T)
c.3441+16826T>A (n.3441+16826T>A)
c.*35A>T (n.*35A>T)
c.1210A>T (p.Ile404Leu)
c.276+16826T>A (n.276+16826T>A)
c.*220+5718A>T (n.*220+5718A>T)
c.334A>T (p.Ile112Leu)
c.361A>T (p.Ile121Leu)
c.1216A>T (p.Ile406Leu)
c.1030A>T (p.Ile344Leu)
c.949A>T (p.Ile317Leu)
c.655A>T (p.Ile219Leu)
c.1036A>T (p.Ile346Leu)
2g.48688506T>CCA346747573GTF2A1L,LHCGR,STON1-GTF2A1Lc.1291A>G (p.Ile431Val)
c.948-367A>G (n.948-367A>G)
c.3441+16826T>C (n.3441+16826T>C)
c.*35A>G (n.*35A>G)
c.1210A>G (p.Ile404Val)
c.276+16826T>C (n.276+16826T>C)
c.*220+5718A>G (n.*220+5718A>G)
c.334A>G (p.Ile112Val)
c.361A>G (p.Ile121Val)
c.1216A>G (p.Ile406Val)
c.1030A>G (p.Ile344Val)
c.949A>G (p.Ile317Val)
c.655A>G (p.Ile219Val)
c.1036A>G (p.Ile346Val)
2g.48688506T>GCA346747574GTF2A1L,LHCGR,STON1-GTF2A1Lc.1291A>C (p.Ile431Leu)
c.948-367A>C (n.948-367A>C)
c.3441+16826T>G (n.3441+16826T>G)
c.*35A>C (n.*35A>C)
c.1210A>C (p.Ile404Leu)
c.276+16826T>G (n.276+16826T>G)
c.*220+5718A>C (n.*220+5718A>C)
c.334A>C (p.Ile112Leu)
c.361A>C (p.Ile121Leu)
c.1216A>C (p.Ile406Leu)
c.1030A>C (p.Ile344Leu)
c.949A>C (p.Ile317Leu)
c.655A>C (p.Ile219Leu)
c.1036A>C (p.Ile346Leu)
2g.48688507G>ACA426125600GTF2A1L,LHCGR,STON1-GTF2A1Lc.1290C>T (p.Ala430=)
c.948-368C>T (n.948-368C>T)
c.3441+16827G>A (n.3441+16827G>A)
c.*34C>T (n.*34C>T)
c.1209C>T (p.Ala403=)
c.276+16827G>A (n.276+16827G>A)
c.*220+5717C>T (n.*220+5717C>T)
c.333C>T (p.Ala111=)
c.360C>T (p.Ala120=)
c.1215C>T (p.Ala405=)
c.1029C>T (p.Ala343=)
c.948C>T (p.Ala316=)
c.654C>T (p.Ala218=)
c.1035C>T (p.Ala345=)
2g.48688507G>CCA426125601GTF2A1L,LHCGR,STON1-GTF2A1Lc.1290C>G (p.Ala430=)
c.948-368C>G (n.948-368C>G)
c.3441+16827G>C (n.3441+16827G>C)
c.*34C>G (n.*34C>G)
c.1209C>G (p.Ala403=)
c.276+16827G>C (n.276+16827G>C)
c.*220+5717C>G (n.*220+5717C>G)
c.333C>G (p.Ala111=)
c.360C>G (p.Ala120=)
c.1215C>G (p.Ala405=)
c.1029C>G (p.Ala343=)
c.948C>G (p.Ala316=)
c.654C>G (p.Ala218=)
c.1035C>G (p.Ala345=)
2g.48688507G>TCA426125602GTF2A1L,LHCGR,STON1-GTF2A1Lc.1290C>A (p.Ala430=)
c.948-368C>A (n.948-368C>A)
c.3441+16827G>T (n.3441+16827G>T)
c.*34C>A (n.*34C>A)
c.1209C>A (p.Ala403=)
c.276+16827G>T (n.276+16827G>T)
c.*220+5717C>A (n.*220+5717C>A)
c.333C>A (p.Ala111=)
c.360C>A (p.Ala120=)
c.1215C>A (p.Ala405=)
c.1029C>A (p.Ala343=)
c.948C>A (p.Ala316=)
c.654C>A (p.Ala218=)
c.1035C>A (p.Ala345=)
2g.48688508G>ACA346747575GTF2A1L,LHCGR,STON1-GTF2A1Lc.1289C>T (p.Ala430Val)
c.948-369C>T (n.948-369C>T)
c.3441+16828G>A (n.3441+16828G>A)
c.*33C>T (n.*33C>T)
c.1208C>T (p.Ala403Val)
c.276+16828G>A (n.276+16828G>A)
c.*220+5716C>T (n.*220+5716C>T)
c.332C>T (p.Ala111Val)
c.359C>T (p.Ala120Val)
c.1214C>T (p.Ala405Val)
c.1028C>T (p.Ala343Val)
c.947C>T (p.Ala316Val)
c.653C>T (p.Ala218Val)
c.1034C>T (p.Ala345Val)
 gnomAD v4
2g.48688508G>CCA346747576GTF2A1L,LHCGR,STON1-GTF2A1Lc.1289C>G (p.Ala430Gly)
c.948-369C>G (n.948-369C>G)
c.3441+16828G>C (n.3441+16828G>C)
c.*33C>G (n.*33C>G)
c.1208C>G (p.Ala403Gly)
c.276+16828G>C (n.276+16828G>C)
c.*220+5716C>G (n.*220+5716C>G)
c.332C>G (p.Ala111Gly)
c.359C>G (p.Ala120Gly)
c.1214C>G (p.Ala405Gly)
c.1028C>G (p.Ala343Gly)
c.947C>G (p.Ala316Gly)
c.653C>G (p.Ala218Gly)
c.1034C>G (p.Ala345Gly)
2g.48688508G>TCA346747577GTF2A1L,LHCGR,STON1-GTF2A1Lc.1289C>A (p.Ala430Asp)
c.948-369C>A (n.948-369C>A)
c.3441+16828G>T (n.3441+16828G>T)
c.*33C>A (n.*33C>A)
c.1208C>A (p.Ala403Asp)
c.276+16828G>T (n.276+16828G>T)
c.*220+5716C>A (n.*220+5716C>A)
c.332C>A (p.Ala111Asp)
c.359C>A (p.Ala120Asp)
c.1214C>A (p.Ala405Asp)
c.1028C>A (p.Ala343Asp)
c.947C>A (p.Ala316Asp)
c.653C>A (p.Ala218Asp)
c.1034C>A (p.Ala345Asp)
2g.48688509C>ACA346747578GTF2A1L,LHCGR,STON1-GTF2A1Lc.1288G>T (p.Ala430Ser)
c.948-370G>T (n.948-370G>T)
c.3441+16829C>A (n.3441+16829C>A)
c.*32G>T (n.*32G>T)
c.1207G>T (p.Ala403Ser)
c.276+16829C>A (n.276+16829C>A)
c.*220+5715G>T (n.*220+5715G>T)
c.331G>T (p.Ala111Ser)
c.358G>T (p.Ala120Ser)
c.1213G>T (p.Ala405Ser)
c.1027G>T (p.Ala343Ser)
c.946G>T (p.Ala316Ser)
c.652G>T (p.Ala218Ser)
c.1033G>T (p.Ala345Ser)
2g.48688509C>GCA346747579GTF2A1L,LHCGR,STON1-GTF2A1Lc.1288G>C (p.Ala430Pro)
c.948-370G>C (n.948-370G>C)
c.3441+16829C>G (n.3441+16829C>G)
c.*32G>C (n.*32G>C)
c.1207G>C (p.Ala403Pro)
c.276+16829C>G (n.276+16829C>G)
c.*220+5715G>C (n.*220+5715G>C)
c.331G>C (p.Ala111Pro)
c.358G>C (p.Ala120Pro)
c.1213G>C (p.Ala405Pro)
c.1027G>C (p.Ala343Pro)
c.946G>C (p.Ala316Pro)
c.652G>C (p.Ala218Pro)
c.1033G>C (p.Ala345Pro)
2g.48688509C>TCA346747580GTF2A1L,LHCGR,STON1-GTF2A1Lc.1288G>A (p.Ala430Thr)
c.948-370G>A (n.948-370G>A)
c.3441+16829C>T (n.3441+16829C>T)
c.*32G>A (n.*32G>A)
c.1207G>A (p.Ala403Thr)
c.276+16829C>T (n.276+16829C>T)
c.*220+5715G>A (n.*220+5715G>A)
c.331G>A (p.Ala111Thr)
c.358G>A (p.Ala120Thr)
c.1213G>A (p.Ala405Thr)
c.1027G>A (p.Ala343Thr)
c.946G>A (p.Ala316Thr)
c.652G>A (p.Ala218Thr)
c.1033G>A (p.Ala345Thr)
2g.48688510A=CA1248601163GTF2A1L,LHCGR,STON1-GTF2A1Lc.1287T= (p.His429=)
c.948-371T= (n.948-371T=)
c.3441+16830A= (n.3441+16830A=)
c.*31T= (n.*31T=)
c.1206T= (p.His402=)
c.276+16830A= (n.276+16830A=)
c.*220+5714T= (n.*220+5714T=)
c.330T= (p.His110=)
c.357T= (p.His119=)
c.1212T= (p.His404=)
c.1026T= (p.His342=)
c.945T= (p.His315=)
c.651T= (p.His217=)
c.1032T= (p.His344=)
2g.48688510A>CCA346747581GTF2A1L,LHCGR,STON1-GTF2A1Lc.1287T>G (p.His429Gln)
c.948-371T>G (n.948-371T>G)
c.3441+16830A>C (n.3441+16830A>C)
c.*31T>G (n.*31T>G)
c.1206T>G (p.His402Gln)
c.276+16830A>C (n.276+16830A>C)
c.*220+5714T>G (n.*220+5714T>G)
c.330T>G (p.His110Gln)
c.357T>G (p.His119Gln)
c.1212T>G (p.His404Gln)
c.1026T>G (p.His342Gln)
c.945T>G (p.His315Gln)
c.651T>G (p.His217Gln)
c.1032T>G (p.His344Gln)
2g.48688510A>GCA426125612GTF2A1L,LHCGR,STON1-GTF2A1Lc.1287T>C (p.His429=)
c.948-371T>C (n.948-371T>C)
c.3441+16830A>G (n.3441+16830A>G)
c.*31T>C (n.*31T>C)
c.1206T>C (p.His402=)
c.276+16830A>G (n.276+16830A>G)
c.*220+5714T>C (n.*220+5714T>C)
c.330T>C (p.His110=)
c.357T>C (p.His119=)
c.1212T>C (p.His404=)
c.1026T>C (p.His342=)
c.945T>C (p.His315=)
c.651T>C (p.His217=)
c.1032T>C (p.His344=)
2g.48688510A>TCA346747582GTF2A1L,LHCGR,STON1-GTF2A1Lc.1287T>A (p.His429Gln)
c.948-371T>A (n.948-371T>A)
c.3441+16830A>T (n.3441+16830A>T)
c.*31T>A (n.*31T>A)
c.1206T>A (p.His402Gln)
c.276+16830A>T (n.276+16830A>T)
c.*220+5714T>A (n.*220+5714T>A)
c.330T>A (p.His110Gln)
c.357T>A (p.His119Gln)
c.1212T>A (p.His404Gln)
c.1026T>A (p.His342Gln)
c.945T>A (p.His315Gln)
c.651T>A (p.His217Gln)
c.1032T>A (p.His344Gln)
 dbSNP
2g.48688511T>ACA346747585GTF2A1L,LHCGR,STON1-GTF2A1Lc.1286A>T (p.His429Leu)
c.948-372A>T (n.948-372A>T)
c.3441+16831T>A (n.3441+16831T>A)
c.*30A>T (n.*30A>T)
c.1205A>T (p.His402Leu)
c.276+16831T>A (n.276+16831T>A)
c.*220+5713A>T (n.*220+5713A>T)
c.329A>T (p.His110Leu)
c.356A>T (p.His119Leu)
c.1211A>T (p.His404Leu)
c.1025A>T (p.His342Leu)
c.944A>T (p.His315Leu)
c.650A>T (p.His217Leu)
c.1031A>T (p.His344Leu)
2g.48688511T>CCA346747584GTF2A1L,LHCGR,STON1-GTF2A1Lc.1286A>G (p.His429Arg)
c.948-372A>G (n.948-372A>G)
c.3441+16831T>C (n.3441+16831T>C)
c.*30A>G (n.*30A>G)
c.1205A>G (p.His402Arg)
c.276+16831T>C (n.276+16831T>C)
c.*220+5713A>G (n.*220+5713A>G)
c.329A>G (p.His110Arg)
c.356A>G (p.His119Arg)
c.1211A>G (p.His404Arg)
c.1025A>G (p.His342Arg)
c.944A>G (p.His315Arg)
c.650A>G (p.His217Arg)
c.1031A>G (p.His344Arg)
 dbSNP
2g.48688511T>GCA346747583GTF2A1L,LHCGR,STON1-GTF2A1Lc.1286A>C (p.His429Pro)
c.948-372A>C (n.948-372A>C)
c.3441+16831T>G (n.3441+16831T>G)
c.*30A>C (n.*30A>C)
c.1205A>C (p.His402Pro)
c.276+16831T>G (n.276+16831T>G)
c.*220+5713A>C (n.*220+5713A>C)
c.329A>C (p.His110Pro)
c.356A>C (p.His119Pro)
c.1211A>C (p.His404Pro)
c.1025A>C (p.His342Pro)
c.944A>C (p.His315Pro)
c.650A>C (p.His217Pro)
c.1031A>C (p.His344Pro)
2g.48688511T=CA1248601164GTF2A1L,LHCGR,STON1-GTF2A1Lc.1286A= (p.His429=)
c.948-372A= (n.948-372A=)
c.3441+16831T= (n.3441+16831T=)
c.*30A= (n.*30A=)
c.1205A= (p.His402=)
c.276+16831T= (n.276+16831T=)
c.*220+5713A= (n.*220+5713A=)
c.329A= (p.His110=)
c.356A= (p.His119=)
c.1211A= (p.His404=)
c.1025A= (p.His342=)
c.944A= (p.His315=)
c.650A= (p.His217=)
c.1031A= (p.His344=)
2g.48688512G>ACA346747586GTF2A1L,LHCGR,STON1-GTF2A1Lc.1285C>T (p.His429Tyr)
c.948-373C>T (n.948-373C>T)
c.3441+16832G>A (n.3441+16832G>A)
c.*29C>T (n.*29C>T)
c.1204C>T (p.His402Tyr)
c.276+16832G>A (n.276+16832G>A)
c.*220+5712C>T (n.*220+5712C>T)
c.328C>T (p.His110Tyr)
c.355C>T (p.His119Tyr)
c.1210C>T (p.His404Tyr)
c.1024C>T (p.His342Tyr)
c.943C>T (p.His315Tyr)
c.649C>T (p.His217Tyr)
c.1030C>T (p.His344Tyr)
2g.48688512G>CCA346747587GTF2A1L,LHCGR,STON1-GTF2A1Lc.1285C>G (p.His429Asp)
c.948-373C>G (n.948-373C>G)
c.3441+16832G>C (n.3441+16832G>C)
c.*29C>G (n.*29C>G)
c.1204C>G (p.His402Asp)
c.276+16832G>C (n.276+16832G>C)
c.*220+5712C>G (n.*220+5712C>G)
c.328C>G (p.His110Asp)
c.355C>G (p.His119Asp)
c.1210C>G (p.His404Asp)
c.1024C>G (p.His342Asp)
c.943C>G (p.His315Asp)
c.649C>G (p.His217Asp)
c.1030C>G (p.His344Asp)
2g.48688512G>TCA346747588GTF2A1L,LHCGR,STON1-GTF2A1Lc.1285C>A (p.His429Asn)
c.948-373C>A (n.948-373C>A)
c.3441+16832G>T (n.3441+16832G>T)
c.*29C>A (n.*29C>A)
c.1204C>A (p.His402Asn)
c.276+16832G>T (n.276+16832G>T)
c.*220+5712C>A (n.*220+5712C>A)
c.328C>A (p.His110Asn)
c.355C>A (p.His119Asn)
c.1210C>A (p.His404Asn)
c.1024C>A (p.His342Asn)
c.943C>A (p.His315Asn)
c.649C>A (p.His217Asn)
c.1030C>A (p.His344Asn)
 gnomAD v4
2g.48688513G>ACA426125619GTF2A1L,LHCGR,STON1-GTF2A1Lc.1284C>T (p.Asn428=)
c.948-374C>T (n.948-374C>T)
c.3441+16833G>A (n.3441+16833G>A)
c.*28C>T (n.*28C>T)
c.1203C>T (p.Asn401=)
c.276+16833G>A (n.276+16833G>A)
c.*220+5711C>T (n.*220+5711C>T)
c.327C>T (p.Asn109=)
c.354C>T (p.Asn118=)
c.1209C>T (p.Asn403=)
c.1023C>T (p.Asn341=)
c.942C>T (p.Asn314=)
c.648C>T (p.Asn216=)
c.1029C>T (p.Asn343=)
 gnomAD v4
2g.48688513G>CCA346747589GTF2A1L,LHCGR,STON1-GTF2A1Lc.1284C>G (p.Asn428Lys)
c.948-374C>G (n.948-374C>G)
c.3441+16833G>C (n.3441+16833G>C)
c.*28C>G (n.*28C>G)
c.1203C>G (p.Asn401Lys)
c.276+16833G>C (n.276+16833G>C)
c.*220+5711C>G (n.*220+5711C>G)
c.327C>G (p.Asn109Lys)
c.354C>G (p.Asn118Lys)
c.1209C>G (p.Asn403Lys)
c.1023C>G (p.Asn341Lys)
c.942C>G (p.Asn314Lys)
c.648C>G (p.Asn216Lys)
c.1029C>G (p.Asn343Lys)
2g.48688513G=CA1248601165GTF2A1L,LHCGR,STON1-GTF2A1Lc.1284C= (p.Asn428=)
c.948-374C= (n.948-374C=)
c.3441+16833G= (n.3441+16833G=)
c.*28C= (n.*28C=)
c.1203C= (p.Asn401=)
c.276+16833G= (n.276+16833G=)
c.*220+5711C= (n.*220+5711C=)
c.327C= (p.Asn109=)
c.354C= (p.Asn118=)
c.1209C= (p.Asn403=)
c.1023C= (p.Asn341=)
c.942C= (p.Asn314=)
c.648C= (p.Asn216=)
c.1029C= (p.Asn343=)
2g.48688513G>TCA1653050GTF2A1L,LHCGR,STON1-GTF2A1Lc.1284C>A (p.Asn428Lys)
c.948-374C>A (n.948-374C>A)
c.3441+16833G>T (n.3441+16833G>T)
c.*28C>A (n.*28C>A)
c.1203C>A (p.Asn401Lys)
c.276+16833G>T (n.276+16833G>T)
c.*220+5711C>A (n.*220+5711C>A)
c.327C>A (p.Asn109Lys)
c.354C>A (p.Asn118Lys)
c.1209C>A (p.Asn403Lys)
c.1023C>A (p.Asn341Lys)
c.942C>A (p.Asn314Lys)
c.648C>A (p.Asn216Lys)
c.1029C>A (p.Asn343Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688514T>ACA346747590GTF2A1L,LHCGR,STON1-GTF2A1Lc.1283A>T (p.Asn428Ile)
c.948-375A>T (n.948-375A>T)
c.3441+16834T>A (n.3441+16834T>A)
c.*27A>T (n.*27A>T)
c.1202A>T (p.Asn401Ile)
c.276+16834T>A (n.276+16834T>A)
c.*220+5710A>T (n.*220+5710A>T)
c.326A>T (p.Asn109Ile)
c.353A>T (p.Asn118Ile)
c.1208A>T (p.Asn403Ile)
c.1022A>T (p.Asn341Ile)
c.941A>T (p.Asn314Ile)
c.647A>T (p.Asn216Ile)
c.1028A>T (p.Asn343Ile)
2g.48688514T>CCA346747591GTF2A1L,LHCGR,STON1-GTF2A1Lc.1283A>G (p.Asn428Ser)
c.948-375A>G (n.948-375A>G)
c.3441+16834T>C (n.3441+16834T>C)
c.*27A>G (n.*27A>G)
c.1202A>G (p.Asn401Ser)
c.276+16834T>C (n.276+16834T>C)
c.*220+5710A>G (n.*220+5710A>G)
c.326A>G (p.Asn109Ser)
c.353A>G (p.Asn118Ser)
c.1208A>G (p.Asn403Ser)
c.1022A>G (p.Asn341Ser)
c.941A>G (p.Asn314Ser)
c.647A>G (p.Asn216Ser)
c.1028A>G (p.Asn343Ser)
2g.48688514T>GCA346747592GTF2A1L,LHCGR,STON1-GTF2A1Lc.1283A>C (p.Asn428Thr)
c.948-375A>C (n.948-375A>C)
c.3441+16834T>G (n.3441+16834T>G)
c.*27A>C (n.*27A>C)
c.1202A>C (p.Asn401Thr)
c.276+16834T>G (n.276+16834T>G)
c.*220+5710A>C (n.*220+5710A>C)
c.326A>C (p.Asn109Thr)
c.353A>C (p.Asn118Thr)
c.1208A>C (p.Asn403Thr)
c.1022A>C (p.Asn341Thr)
c.941A>C (p.Asn314Thr)
c.647A>C (p.Asn216Thr)
c.1028A>C (p.Asn343Thr)
2g.48688515T>ACA1653051GTF2A1L,LHCGR,STON1-GTF2A1Lc.1282A>T (p.Asn428Tyr)
c.948-376A>T (n.948-376A>T)
c.3441+16835T>A (n.3441+16835T>A)
c.*26A>T (n.*26A>T)
c.1201A>T (p.Asn401Tyr)
c.276+16835T>A (n.276+16835T>A)
c.*220+5709A>T (n.*220+5709A>T)
c.325A>T (p.Asn109Tyr)
c.352A>T (p.Asn118Tyr)
c.1207A>T (p.Asn403Tyr)
c.1021A>T (p.Asn341Tyr)
c.940A>T (p.Asn314Tyr)
c.646A>T (p.Asn216Tyr)
c.1027A>T (p.Asn343Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688515T>CCA346748293GTF2A1L,LHCGR,STON1-GTF2A1Lc.1282A>G (p.Asn428Asp)
c.948-376A>G (n.948-376A>G)
c.3441+16835T>C (n.3441+16835T>C)
c.*26A>G (n.*26A>G)
c.1201A>G (p.Asn401Asp)
c.276+16835T>C (n.276+16835T>C)
c.*220+5709A>G (n.*220+5709A>G)
c.325A>G (p.Asn109Asp)
c.352A>G (p.Asn118Asp)
c.1207A>G (p.Asn403Asp)
c.1021A>G (p.Asn341Asp)
c.940A>G (p.Asn314Asp)
c.646A>G (p.Asn216Asp)
c.1027A>G (p.Asn343Asp)
2g.48688515T>GCA346748294GTF2A1L,LHCGR,STON1-GTF2A1Lc.1282A>C (p.Asn428His)
c.948-376A>C (n.948-376A>C)
c.3441+16835T>G (n.3441+16835T>G)
c.*26A>C (n.*26A>C)
c.1201A>C (p.Asn401His)
c.276+16835T>G (n.276+16835T>G)
c.*220+5709A>C (n.*220+5709A>C)
c.325A>C (p.Asn109His)
c.352A>C (p.Asn118His)
c.1207A>C (p.Asn403His)
c.1021A>C (p.Asn341His)
c.940A>C (p.Asn314His)
c.646A>C (p.Asn216His)
c.1027A>C (p.Asn343His)
2g.48688515T=CA1248601166GTF2A1L,LHCGR,STON1-GTF2A1Lc.1282A= (p.Asn428=)
c.948-376A= (n.948-376A=)
c.3441+16835T= (n.3441+16835T=)
c.*26A= (n.*26A=)
c.1201A= (p.Asn401=)
c.276+16835T= (n.276+16835T=)
c.*220+5709A= (n.*220+5709A=)
c.325A= (p.Asn109=)
c.352A= (p.Asn118=)
c.1207A= (p.Asn403=)
c.1021A= (p.Asn341=)
c.940A= (p.Asn314=)
c.646A= (p.Asn216=)
c.1027A= (p.Asn343=)
2g.48688516A>CCA346748302GTF2A1L,LHCGR,STON1-GTF2A1Lc.1281T>G (p.Tyr427Ter)
c.948-377T>G (n.948-377T>G)
c.3441+16836A>C (n.3441+16836A>C)
c.*25T>G (n.*25T>G)
c.1200T>G (p.Tyr400Ter)
c.276+16836A>C (n.276+16836A>C)
c.*220+5708T>G (n.*220+5708T>G)
c.324T>G (p.Tyr108Ter)
c.351T>G (p.Tyr117Ter)
c.1206T>G (p.Tyr402Ter)
c.1020T>G (p.Tyr340Ter)
c.939T>G (p.Tyr313Ter)
c.645T>G (p.Tyr215Ter)
c.1026T>G (p.Tyr342Ter)
2g.48688516A>GCA426124544GTF2A1L,LHCGR,STON1-GTF2A1Lc.1281T>C (p.Tyr427=)
c.948-377T>C (n.948-377T>C)
c.3441+16836A>G (n.3441+16836A>G)
c.*25T>C (n.*25T>C)
c.1200T>C (p.Tyr400=)
c.276+16836A>G (n.276+16836A>G)
c.*220+5708T>C (n.*220+5708T>C)
c.324T>C (p.Tyr108=)
c.351T>C (p.Tyr117=)
c.1206T>C (p.Tyr402=)
c.1020T>C (p.Tyr340=)
c.939T>C (p.Tyr313=)
c.645T>C (p.Tyr215=)
c.1026T>C (p.Tyr342=)
 gnomAD v4 COSMIC
2g.48688516A>TCA346748304GTF2A1L,LHCGR,STON1-GTF2A1Lc.1281T>A (p.Tyr427Ter)
c.948-377T>A (n.948-377T>A)
c.3441+16836A>T (n.3441+16836A>T)
c.*25T>A (n.*25T>A)
c.1200T>A (p.Tyr400Ter)
c.276+16836A>T (n.276+16836A>T)
c.*220+5708T>A (n.*220+5708T>A)
c.324T>A (p.Tyr108Ter)
c.351T>A (p.Tyr117Ter)
c.1206T>A (p.Tyr402Ter)
c.1020T>A (p.Tyr340Ter)
c.939T>A (p.Tyr313Ter)
c.645T>A (p.Tyr215Ter)
c.1026T>A (p.Tyr342Ter)
 dbSNP COSMIC
2g.48688517T>ACA346748308GTF2A1L,LHCGR,STON1-GTF2A1Lc.1280A>T (p.Tyr427Phe)
c.948-378A>T (n.948-378A>T)
c.3441+16837T>A (n.3441+16837T>A)
c.*24A>T (n.*24A>T)
c.1199A>T (p.Tyr400Phe)
c.276+16837T>A (n.276+16837T>A)
c.*220+5707A>T (n.*220+5707A>T)
c.323A>T (p.Tyr108Phe)
c.350A>T (p.Tyr117Phe)
c.1205A>T (p.Tyr402Phe)
c.1019A>T (p.Tyr340Phe)
c.938A>T (p.Tyr313Phe)
c.644A>T (p.Tyr215Phe)
c.1025A>T (p.Tyr342Phe)
2g.48688517T>CCA346748307GTF2A1L,LHCGR,STON1-GTF2A1Lc.1280A>G (p.Tyr427Cys)
c.948-378A>G (n.948-378A>G)
c.3441+16837T>C (n.3441+16837T>C)
c.*24A>G (n.*24A>G)
c.1199A>G (p.Tyr400Cys)
c.276+16837T>C (n.276+16837T>C)
c.*220+5707A>G (n.*220+5707A>G)
c.323A>G (p.Tyr108Cys)
c.350A>G (p.Tyr117Cys)
c.1205A>G (p.Tyr402Cys)
c.1019A>G (p.Tyr340Cys)
c.938A>G (p.Tyr313Cys)
c.644A>G (p.Tyr215Cys)
c.1025A>G (p.Tyr342Cys)
 dbSNP gnomAD v4
2g.48688517T>GCA346748306GTF2A1L,LHCGR,STON1-GTF2A1Lc.1280A>C (p.Tyr427Ser)
c.948-378A>C (n.948-378A>C)
c.3441+16837T>G (n.3441+16837T>G)
c.*24A>C (n.*24A>C)
c.1199A>C (p.Tyr400Ser)
c.276+16837T>G (n.276+16837T>G)
c.*220+5707A>C (n.*220+5707A>C)
c.323A>C (p.Tyr108Ser)
c.350A>C (p.Tyr117Ser)
c.1205A>C (p.Tyr402Ser)
c.1019A>C (p.Tyr340Ser)
c.938A>C (p.Tyr313Ser)
c.644A>C (p.Tyr215Ser)
c.1025A>C (p.Tyr342Ser)
2g.48688517T=CA1248601167GTF2A1L,LHCGR,STON1-GTF2A1Lc.1280A= (p.Tyr427=)
c.948-378A= (n.948-378A=)
c.3441+16837T= (n.3441+16837T=)
c.*24A= (n.*24A=)
c.1199A= (p.Tyr400=)
c.276+16837T= (n.276+16837T=)
c.*220+5707A= (n.*220+5707A=)
c.323A= (p.Tyr108=)
c.350A= (p.Tyr117=)
c.1205A= (p.Tyr402=)
c.1019A= (p.Tyr340=)
c.938A= (p.Tyr313=)
c.644A= (p.Tyr215=)
c.1025A= (p.Tyr342=)
2g.48688518A>CCA346748311GTF2A1L,LHCGR,STON1-GTF2A1Lc.1279T>G (p.Tyr427Asp)
c.948-379T>G (n.948-379T>G)
c.3441+16838A>C (n.3441+16838A>C)
c.*23T>G (n.*23T>G)
c.1198T>G (p.Tyr400Asp)
c.276+16838A>C (n.276+16838A>C)
c.*220+5706T>G (n.*220+5706T>G)
c.322T>G (p.Tyr108Asp)
c.349T>G (p.Tyr117Asp)
c.1204T>G (p.Tyr402Asp)
c.1018T>G (p.Tyr340Asp)
c.937T>G (p.Tyr313Asp)
c.643T>G (p.Tyr215Asp)
c.1024T>G (p.Tyr342Asp)
2g.48688518A>GCA346748309GTF2A1L,LHCGR,STON1-GTF2A1Lc.1279T>C (p.Tyr427His)
c.948-379T>C (n.948-379T>C)
c.3441+16838A>G (n.3441+16838A>G)
c.*23T>C (n.*23T>C)
c.1198T>C (p.Tyr400His)
c.276+16838A>G (n.276+16838A>G)
c.*220+5706T>C (n.*220+5706T>C)
c.322T>C (p.Tyr108His)
c.349T>C (p.Tyr117His)
c.1204T>C (p.Tyr402His)
c.1018T>C (p.Tyr340His)
c.937T>C (p.Tyr313His)
c.643T>C (p.Tyr215His)
c.1024T>C (p.Tyr342His)
2g.48688518A>TCA346748310GTF2A1L,LHCGR,STON1-GTF2A1Lc.1279T>A (p.Tyr427Asn)
c.948-379T>A (n.948-379T>A)
c.3441+16838A>T (n.3441+16838A>T)
c.*23T>A (n.*23T>A)
c.1198T>A (p.Tyr400Asn)
c.276+16838A>T (n.276+16838A>T)
c.*220+5706T>A (n.*220+5706T>A)
c.322T>A (p.Tyr108Asn)
c.349T>A (p.Tyr117Asn)
c.1204T>A (p.Tyr402Asn)
c.1018T>A (p.Tyr340Asn)
c.937T>A (p.Tyr313Asn)
c.643T>A (p.Tyr215Asn)
c.1024T>A (p.Tyr342Asn)
2g.48688519G>ACA426124545GTF2A1L,LHCGR,STON1-GTF2A1Lc.1278C>T (p.Tyr426=)
c.948-380C>T (n.948-380C>T)
c.3441+16839G>A (n.3441+16839G>A)
c.*22C>T (n.*22C>T)
c.1197C>T (p.Tyr399=)
c.276+16839G>A (n.276+16839G>A)
c.*220+5705C>T (n.*220+5705C>T)
c.321C>T (p.Tyr107=)
c.348C>T (p.Tyr116=)
c.1203C>T (p.Tyr401=)
c.1017C>T (p.Tyr339=)
c.936C>T (p.Tyr312=)
c.642C>T (p.Tyr214=)
c.1023C>T (p.Tyr341=)
 gnomAD v4
2g.48688519G>CCA346748312GTF2A1L,LHCGR,STON1-GTF2A1Lc.1278C>G (p.Tyr426Ter)
c.948-380C>G (n.948-380C>G)
c.3441+16839G>C (n.3441+16839G>C)
c.*22C>G (n.*22C>G)
c.1197C>G (p.Tyr399Ter)
c.276+16839G>C (n.276+16839G>C)
c.*220+5705C>G (n.*220+5705C>G)
c.321C>G (p.Tyr107Ter)
c.348C>G (p.Tyr116Ter)
c.1203C>G (p.Tyr401Ter)
c.1017C>G (p.Tyr339Ter)
c.936C>G (p.Tyr312Ter)
c.642C>G (p.Tyr214Ter)
c.1023C>G (p.Tyr341Ter)
2g.48688519G>TCA346748314GTF2A1L,LHCGR,STON1-GTF2A1Lc.1278C>A (p.Tyr426Ter)
c.948-380C>A (n.948-380C>A)
c.3441+16839G>T (n.3441+16839G>T)
c.*22C>A (n.*22C>A)
c.1197C>A (p.Tyr399Ter)
c.276+16839G>T (n.276+16839G>T)
c.*220+5705C>A (n.*220+5705C>A)
c.321C>A (p.Tyr107Ter)
c.348C>A (p.Tyr116Ter)
c.1203C>A (p.Tyr401Ter)
c.1017C>A (p.Tyr339Ter)
c.936C>A (p.Tyr312Ter)
c.642C>A (p.Tyr214Ter)
c.1023C>A (p.Tyr341Ter)
2g.48688520T>ACA346748316GTF2A1L,LHCGR,STON1-GTF2A1Lc.1277A>T (p.Tyr426Phe)
c.948-381A>T (n.948-381A>T)
c.3441+16840T>A (n.3441+16840T>A)
c.*21A>T (n.*21A>T)
c.1196A>T (p.Tyr399Phe)
c.276+16840T>A (n.276+16840T>A)
c.*220+5704A>T (n.*220+5704A>T)
c.320A>T (p.Tyr107Phe)
c.347A>T (p.Tyr116Phe)
c.1202A>T (p.Tyr401Phe)
c.1016A>T (p.Tyr339Phe)
c.935A>T (p.Tyr312Phe)
c.641A>T (p.Tyr214Phe)
c.1022A>T (p.Tyr341Phe)
2g.48688520T>CCA346748317GTF2A1L,LHCGR,STON1-GTF2A1Lc.1277A>G (p.Tyr426Cys)
c.948-381A>G (n.948-381A>G)
c.3441+16840T>C (n.3441+16840T>C)
c.*21A>G (n.*21A>G)
c.1196A>G (p.Tyr399Cys)
c.276+16840T>C (n.276+16840T>C)
c.*220+5704A>G (n.*220+5704A>G)
c.320A>G (p.Tyr107Cys)
c.347A>G (p.Tyr116Cys)
c.1202A>G (p.Tyr401Cys)
c.1016A>G (p.Tyr339Cys)
c.935A>G (p.Tyr312Cys)
c.641A>G (p.Tyr214Cys)
c.1022A>G (p.Tyr341Cys)
2g.48688520T>GCA346748319GTF2A1L,LHCGR,STON1-GTF2A1Lc.1277A>C (p.Tyr426Ser)
c.948-381A>C (n.948-381A>C)
c.3441+16840T>G (n.3441+16840T>G)
c.*21A>C (n.*21A>C)
c.1196A>C (p.Tyr399Ser)
c.276+16840T>G (n.276+16840T>G)
c.*220+5704A>C (n.*220+5704A>C)
c.320A>C (p.Tyr107Ser)
c.347A>C (p.Tyr116Ser)
c.1202A>C (p.Tyr401Ser)
c.1016A>C (p.Tyr339Ser)
c.935A>C (p.Tyr312Ser)
c.641A>C (p.Tyr214Ser)
c.1022A>C (p.Tyr341Ser)
2g.48688521A=CA1248601168GTF2A1L,LHCGR,STON1-GTF2A1Lc.1276T= (p.Tyr426=)
c.948-382T= (n.948-382T=)
c.3441+16841A= (n.3441+16841A=)
c.*20T= (n.*20T=)
c.1195T= (p.Tyr399=)
c.276+16841A= (n.276+16841A=)
c.*220+5703T= (n.*220+5703T=)
c.319T= (p.Tyr107=)
c.346T= (p.Tyr116=)
c.1201T= (p.Tyr401=)
c.1015T= (p.Tyr339=)
c.934T= (p.Tyr312=)
c.640T= (p.Tyr214=)
c.1021T= (p.Tyr341=)
2g.48688521A>CCA346748320GTF2A1L,LHCGR,STON1-GTF2A1Lc.1276T>G (p.Tyr426Asp)
c.948-382T>G (n.948-382T>G)
c.3441+16841A>C (n.3441+16841A>C)
c.*20T>G (n.*20T>G)
c.1195T>G (p.Tyr399Asp)
c.276+16841A>C (n.276+16841A>C)
c.*220+5703T>G (n.*220+5703T>G)
c.319T>G (p.Tyr107Asp)
c.346T>G (p.Tyr116Asp)
c.1201T>G (p.Tyr401Asp)
c.1015T>G (p.Tyr339Asp)
c.934T>G (p.Tyr312Asp)
c.640T>G (p.Tyr214Asp)
c.1021T>G (p.Tyr341Asp)
2g.48688521A>GCA1653052GTF2A1L,LHCGR,STON1-GTF2A1Lc.1276T>C (p.Tyr426His)
c.948-382T>C (n.948-382T>C)
c.3441+16841A>G (n.3441+16841A>G)
c.*20T>C (n.*20T>C)
c.1195T>C (p.Tyr399His)
c.276+16841A>G (n.276+16841A>G)
c.*220+5703T>C (n.*220+5703T>C)
c.319T>C (p.Tyr107His)
c.346T>C (p.Tyr116His)
c.1201T>C (p.Tyr401His)
c.1015T>C (p.Tyr339His)
c.934T>C (p.Tyr312His)
c.640T>C (p.Tyr214His)
c.1021T>C (p.Tyr341His)
 dbSNP ExAC gnomAD v2
2g.48688521A>TCA346748323GTF2A1L,LHCGR,STON1-GTF2A1Lc.1276T>A (p.Tyr426Asn)
c.948-382T>A (n.948-382T>A)
c.3441+16841A>T (n.3441+16841A>T)
c.*20T>A (n.*20T>A)
c.1195T>A (p.Tyr399Asn)
c.276+16841A>T (n.276+16841A>T)
c.*220+5703T>A (n.*220+5703T>A)
c.319T>A (p.Tyr107Asn)
c.346T>A (p.Tyr116Asn)
c.1201T>A (p.Tyr401Asn)
c.1015T>A (p.Tyr339Asn)
c.934T>A (p.Tyr312Asn)
c.640T>A (p.Tyr214Asn)
c.1021T>A (p.Tyr341Asn)
2g.48688522C>ACA346748325GTF2A1L,LHCGR,STON1-GTF2A1Lc.1275G>T (p.Gln425His)
c.948-383G>T (n.948-383G>T)
c.3441+16842C>A (n.3441+16842C>A)
c.*19G>T (n.*19G>T)
c.1194G>T (p.Gln398His)
c.276+16842C>A (n.276+16842C>A)
c.*220+5702G>T (n.*220+5702G>T)
c.318G>T (p.Gln106His)
c.345G>T (p.Gln115His)
c.1200G>T (p.Gln400His)
c.1014G>T (p.Gln338His)
c.933G>T (p.Gln311His)
c.639G>T (p.Gln213His)
c.1020G>T (p.Gln340His)
2g.48688522C=CA1248601169GTF2A1L,LHCGR,STON1-GTF2A1Lc.1275G= (p.Gln425=)
c.948-383G= (n.948-383G=)
c.3441+16842C= (n.3441+16842C=)
c.*19G= (n.*19G=)
c.1194G= (p.Gln398=)
c.276+16842C= (n.276+16842C=)
c.*220+5702G= (n.*220+5702G=)
c.318G= (p.Gln106=)
c.345G= (p.Gln115=)
c.1200G= (p.Gln400=)
c.1014G= (p.Gln338=)
c.933G= (p.Gln311=)
c.639G= (p.Gln213=)
c.1020G= (p.Gln340=)
2g.48688522C>GCA346748327GTF2A1L,LHCGR,STON1-GTF2A1Lc.1275G>C (p.Gln425His)
c.948-383G>C (n.948-383G>C)
c.3441+16842C>G (n.3441+16842C>G)
c.*19G>C (n.*19G>C)
c.1194G>C (p.Gln398His)
c.276+16842C>G (n.276+16842C>G)
c.*220+5702G>C (n.*220+5702G>C)
c.318G>C (p.Gln106His)
c.345G>C (p.Gln115His)
c.1200G>C (p.Gln400His)
c.1014G>C (p.Gln338His)
c.933G>C (p.Gln311His)
c.639G>C (p.Gln213His)
c.1020G>C (p.Gln340His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48688522C>TCA426124546GTF2A1L,LHCGR,STON1-GTF2A1Lc.1275G>A (p.Gln425=)
c.948-383G>A (n.948-383G>A)
c.3441+16842C>T (n.3441+16842C>T)
c.*19G>A (n.*19G>A)
c.1194G>A (p.Gln398=)
c.276+16842C>T (n.276+16842C>T)
c.*220+5702G>A (n.*220+5702G>A)
c.318G>A (p.Gln106=)
c.345G>A (p.Gln115=)
c.1200G>A (p.Gln400=)
c.1014G>A (p.Gln338=)
c.933G>A (p.Gln311=)
c.639G>A (p.Gln213=)
c.1020G>A (p.Gln340=)
2g.48688523T>ACA346748331GTF2A1L,LHCGR,STON1-GTF2A1Lc.1274A>T (p.Gln425Leu)
c.948-384A>T (n.948-384A>T)
c.3441+16843T>A (n.3441+16843T>A)
c.*18A>T (n.*18A>T)
c.1193A>T (p.Gln398Leu)
c.276+16843T>A (n.276+16843T>A)
c.*220+5701A>T (n.*220+5701A>T)
c.317A>T (p.Gln106Leu)
c.344A>T (p.Gln115Leu)
c.1199A>T (p.Gln400Leu)
c.1013A>T (p.Gln338Leu)
c.932A>T (p.Gln311Leu)
c.638A>T (p.Gln213Leu)
c.1019A>T (p.Gln340Leu)
2g.48688523T>CCA1653053GTF2A1L,LHCGR,STON1-GTF2A1Lc.1274A>G (p.Gln425Arg)
c.948-384A>G (n.948-384A>G)
c.3441+16843T>C (n.3441+16843T>C)
c.*18A>G (n.*18A>G)
c.1193A>G (p.Gln398Arg)
c.276+16843T>C (n.276+16843T>C)
c.*220+5701A>G (n.*220+5701A>G)
c.317A>G (p.Gln106Arg)
c.344A>G (p.Gln115Arg)
c.1199A>G (p.Gln400Arg)
c.1013A>G (p.Gln338Arg)
c.932A>G (p.Gln311Arg)
c.638A>G (p.Gln213Arg)
c.1019A>G (p.Gln340Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688523T>GCA346748328GTF2A1L,LHCGR,STON1-GTF2A1Lc.1274A>C (p.Gln425Pro)
c.948-384A>C (n.948-384A>C)
c.3441+16843T>G (n.3441+16843T>G)
c.*18A>C (n.*18A>C)
c.1193A>C (p.Gln398Pro)
c.276+16843T>G (n.276+16843T>G)
c.*220+5701A>C (n.*220+5701A>C)
c.317A>C (p.Gln106Pro)
c.344A>C (p.Gln115Pro)
c.1199A>C (p.Gln400Pro)
c.1013A>C (p.Gln338Pro)
c.932A>C (p.Gln311Pro)
c.638A>C (p.Gln213Pro)
c.1019A>C (p.Gln340Pro)
2g.48688523T=CA1248601170GTF2A1L,LHCGR,STON1-GTF2A1Lc.1274A= (p.Gln425=)
c.948-384A= (n.948-384A=)
c.3441+16843T= (n.3441+16843T=)
c.*18A= (n.*18A=)
c.1193A= (p.Gln398=)
c.276+16843T= (n.276+16843T=)
c.*220+5701A= (n.*220+5701A=)
c.317A= (p.Gln106=)
c.344A= (p.Gln115=)
c.1199A= (p.Gln400=)
c.1013A= (p.Gln338=)
c.932A= (p.Gln311=)
c.638A= (p.Gln213=)
c.1019A= (p.Gln340=)
2g.48688524G>ACA346748333GTF2A1L,LHCGR,STON1-GTF2A1Lc.1273C>T (p.Gln425Ter)
c.948-385C>T (n.948-385C>T)
c.3441+16844G>A (n.3441+16844G>A)
c.*17C>T (n.*17C>T)
c.1192C>T (p.Gln398Ter)
c.276+16844G>A (n.276+16844G>A)
c.*220+5700C>T (n.*220+5700C>T)
c.316C>T (p.Gln106Ter)
c.343C>T (p.Gln115Ter)
c.1198C>T (p.Gln400Ter)
c.1012C>T (p.Gln338Ter)
c.931C>T (p.Gln311Ter)
c.637C>T (p.Gln213Ter)
c.1018C>T (p.Gln340Ter)
2g.48688524G>CCA346748335GTF2A1L,LHCGR,STON1-GTF2A1Lc.1273C>G (p.Gln425Glu)
c.948-385C>G (n.948-385C>G)
c.3441+16844G>C (n.3441+16844G>C)
c.*17C>G (n.*17C>G)
c.1192C>G (p.Gln398Glu)
c.276+16844G>C (n.276+16844G>C)
c.*220+5700C>G (n.*220+5700C>G)
c.316C>G (p.Gln106Glu)
c.343C>G (p.Gln115Glu)
c.1198C>G (p.Gln400Glu)
c.1012C>G (p.Gln338Glu)
c.931C>G (p.Gln311Glu)
c.637C>G (p.Gln213Glu)
c.1018C>G (p.Gln340Glu)
2g.48688524G>TCA346748337GTF2A1L,LHCGR,STON1-GTF2A1Lc.1273C>A (p.Gln425Lys)
c.948-385C>A (n.948-385C>A)
c.3441+16844G>T (n.3441+16844G>T)
c.*17C>A (n.*17C>A)
c.1192C>A (p.Gln398Lys)
c.276+16844G>T (n.276+16844G>T)
c.*220+5700C>A (n.*220+5700C>A)
c.316C>A (p.Gln106Lys)
c.343C>A (p.Gln115Lys)
c.1198C>A (p.Gln400Lys)
c.1012C>A (p.Gln338Lys)
c.931C>A (p.Gln311Lys)
c.637C>A (p.Gln213Lys)
c.1018C>A (p.Gln340Lys)
2g.48688525G>ACA1653054GTF2A1L,LHCGR,STON1-GTF2A1Lc.1272C>T (p.Gly424=)
c.948-386C>T (n.948-386C>T)
c.3441+16845G>A (n.3441+16845G>A)
c.*16C>T (n.*16C>T)
c.1191C>T (p.Gly397=)
c.276+16845G>A (n.276+16845G>A)
c.*220+5699C>T (n.*220+5699C>T)
c.315C>T (p.Gly105=)
c.342C>T (p.Gly114=)
c.1197C>T (p.Gly399=)
c.1011C>T (p.Gly337=)
c.930C>T (p.Gly310=)
c.636C>T (p.Gly212=)
c.1017C>T (p.Gly339=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688525G>CCA426124547GTF2A1L,LHCGR,STON1-GTF2A1Lc.1272C>G (p.Gly424=)
c.948-386C>G (n.948-386C>G)
c.3441+16845G>C (n.3441+16845G>C)
c.*16C>G (n.*16C>G)
c.1191C>G (p.Gly397=)
c.276+16845G>C (n.276+16845G>C)
c.*220+5699C>G (n.*220+5699C>G)
c.315C>G (p.Gly105=)
c.342C>G (p.Gly114=)
c.1197C>G (p.Gly399=)
c.1011C>G (p.Gly337=)
c.930C>G (p.Gly310=)
c.636C>G (p.Gly212=)
c.1017C>G (p.Gly339=)
2g.48688525G=CA1248601171GTF2A1L,LHCGR,STON1-GTF2A1Lc.1272C= (p.Gly424=)
c.948-386C= (n.948-386C=)
c.3441+16845G= (n.3441+16845G=)
c.*16C= (n.*16C=)
c.1191C= (p.Gly397=)
c.276+16845G= (n.276+16845G=)
c.*220+5699C= (n.*220+5699C=)
c.315C= (p.Gly105=)
c.342C= (p.Gly114=)
c.1197C= (p.Gly399=)
c.1011C= (p.Gly337=)
c.930C= (p.Gly310=)
c.636C= (p.Gly212=)
c.1017C= (p.Gly339=)
2g.48688525G>TCA426124548GTF2A1L,LHCGR,STON1-GTF2A1Lc.1272C>A (p.Gly424=)
c.948-386C>A (n.948-386C>A)
c.3441+16845G>T (n.3441+16845G>T)
c.*16C>A (n.*16C>A)
c.1191C>A (p.Gly397=)
c.276+16845G>T (n.276+16845G>T)
c.*220+5699C>A (n.*220+5699C>A)
c.315C>A (p.Gly105=)
c.342C>A (p.Gly114=)
c.1197C>A (p.Gly399=)
c.1011C>A (p.Gly337=)
c.930C>A (p.Gly310=)
c.636C>A (p.Gly212=)
c.1017C>A (p.Gly339=)
2g.48688526C>ACA346748341GTF2A1L,LHCGR,STON1-GTF2A1Lc.1271G>T (p.Gly424Val)
c.948-387G>T (n.948-387G>T)
c.3441+16846C>A (n.3441+16846C>A)
c.*15G>T (n.*15G>T)
c.1190G>T (p.Gly397Val)
c.276+16846C>A (n.276+16846C>A)
c.*220+5698G>T (n.*220+5698G>T)
c.314G>T (p.Gly105Val)
c.341G>T (p.Gly114Val)
c.1196G>T (p.Gly399Val)
c.1010G>T (p.Gly337Val)
c.929G>T (p.Gly310Val)
c.635G>T (p.Gly212Val)
c.1016G>T (p.Gly339Val)
2g.48688526C>GCA346748342GTF2A1L,LHCGR,STON1-GTF2A1Lc.1271G>C (p.Gly424Ala)
c.948-387G>C (n.948-387G>C)
c.3441+16846C>G (n.3441+16846C>G)
c.*15G>C (n.*15G>C)
c.1190G>C (p.Gly397Ala)
c.276+16846C>G (n.276+16846C>G)
c.*220+5698G>C (n.*220+5698G>C)
c.314G>C (p.Gly105Ala)
c.341G>C (p.Gly114Ala)
c.1196G>C (p.Gly399Ala)
c.1010G>C (p.Gly337Ala)
c.929G>C (p.Gly310Ala)
c.635G>C (p.Gly212Ala)
c.1016G>C (p.Gly339Ala)
2g.48688526C>TCA346748345GTF2A1L,LHCGR,STON1-GTF2A1Lc.1271G>A (p.Gly424Asp)
c.948-387G>A (n.948-387G>A)
c.3441+16846C>T (n.3441+16846C>T)
c.*15G>A (n.*15G>A)
c.1190G>A (p.Gly397Asp)
c.276+16846C>T (n.276+16846C>T)
c.*220+5698G>A (n.*220+5698G>A)
c.314G>A (p.Gly105Asp)
c.341G>A (p.Gly114Asp)
c.1196G>A (p.Gly399Asp)
c.1010G>A (p.Gly337Asp)
c.929G>A (p.Gly310Asp)
c.635G>A (p.Gly212Asp)
c.1016G>A (p.Gly339Asp)
2g.48688527C>ACA346748347GTF2A1L,LHCGR,STON1-GTF2A1Lc.1270G>T (p.Gly424Cys)
c.948-388G>T (n.948-388G>T)
c.3441+16847C>A (n.3441+16847C>A)
c.*14G>T (n.*14G>T)
c.1189G>T (p.Gly397Cys)
c.276+16847C>A (n.276+16847C>A)
c.*220+5697G>T (n.*220+5697G>T)
c.313G>T (p.Gly105Cys)
c.340G>T (p.Gly114Cys)
c.1195G>T (p.Gly399Cys)
c.1009G>T (p.Gly337Cys)
c.928G>T (p.Gly310Cys)
c.634G>T (p.Gly212Cys)
c.1015G>T (p.Gly339Cys)
2g.48688527C=CA1248601172GTF2A1L,LHCGR,STON1-GTF2A1Lc.1270G= (p.Gly424=)
c.948-388G= (n.948-388G=)
c.3441+16847C= (n.3441+16847C=)
c.*14G= (n.*14G=)
c.1189G= (p.Gly397=)
c.276+16847C= (n.276+16847C=)
c.*220+5697G= (n.*220+5697G=)
c.313G= (p.Gly105=)
c.340G= (p.Gly114=)
c.1195G= (p.Gly399=)
c.1009G= (p.Gly337=)
c.928G= (p.Gly310=)
c.634G= (p.Gly212=)
c.1015G= (p.Gly339=)
2g.48688527C>GCA346748349GTF2A1L,LHCGR,STON1-GTF2A1Lc.1270G>C (p.Gly424Arg)
c.948-388G>C (n.948-388G>C)
c.3441+16847C>G (n.3441+16847C>G)
c.*14G>C (n.*14G>C)
c.1189G>C (p.Gly397Arg)
c.276+16847C>G (n.276+16847C>G)
c.*220+5697G>C (n.*220+5697G>C)
c.313G>C (p.Gly105Arg)
c.340G>C (p.Gly114Arg)
c.1195G>C (p.Gly399Arg)
c.1009G>C (p.Gly337Arg)
c.928G>C (p.Gly310Arg)
c.634G>C (p.Gly212Arg)
c.1015G>C (p.Gly339Arg)
2g.48688527C>TCA46753083GTF2A1L,LHCGR,STON1-GTF2A1Lc.1270G>A (p.Gly424Ser)
c.948-388G>A (n.948-388G>A)
c.3441+16847C>T (n.3441+16847C>T)
c.*14G>A (n.*14G>A)
c.1189G>A (p.Gly397Ser)
c.276+16847C>T (n.276+16847C>T)
c.*220+5697G>A (n.*220+5697G>A)
c.313G>A (p.Gly105Ser)
c.340G>A (p.Gly114Ser)
c.1195G>A (p.Gly399Ser)
c.1009G>A (p.Gly337Ser)
c.928G>A (p.Gly310Ser)
c.634G>A (p.Gly212Ser)
c.1015G>A (p.Gly339Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.48688528C>ACA346748352GTF2A1L,LHCGR,STON1-GTF2A1Lc.1269G>T (p.Lys423Asn)
c.948-389G>T (n.948-389G>T)
c.3441+16848C>A (n.3441+16848C>A)
c.*13G>T (n.*13G>T)
c.1188G>T (p.Lys396Asn)
c.276+16848C>A (n.276+16848C>A)
c.*220+5696G>T (n.*220+5696G>T)
c.312G>T (p.Lys104Asn)
c.339G>T (p.Lys113Asn)
c.1194G>T (p.Lys398Asn)
c.1008G>T (p.Lys336Asn)
c.927G>T (p.Lys309Asn)
c.633G>T (p.Lys211Asn)
c.1014G>T (p.Lys338Asn)
2g.48688528C=CA1248601173GTF2A1L,LHCGR,STON1-GTF2A1Lc.1269G= (p.Lys423=)
c.948-389G= (n.948-389G=)
c.3441+16848C= (n.3441+16848C=)
c.*13G= (n.*13G=)
c.1188G= (p.Lys396=)
c.276+16848C= (n.276+16848C=)
c.*220+5696G= (n.*220+5696G=)
c.312G= (p.Lys104=)
c.339G= (p.Lys113=)
c.1194G= (p.Lys398=)
c.1008G= (p.Lys336=)
c.927G= (p.Lys309=)
c.633G= (p.Lys211=)
c.1014G= (p.Lys338=)
2g.48688528C>GCA346748355GTF2A1L,LHCGR,STON1-GTF2A1Lc.1269G>C (p.Lys423Asn)
c.948-389G>C (n.948-389G>C)
c.3441+16848C>G (n.3441+16848C>G)
c.*13G>C (n.*13G>C)
c.1188G>C (p.Lys396Asn)
c.276+16848C>G (n.276+16848C>G)
c.*220+5696G>C (n.*220+5696G>C)
c.312G>C (p.Lys104Asn)
c.339G>C (p.Lys113Asn)
c.1194G>C (p.Lys398Asn)
c.1008G>C (p.Lys336Asn)
c.927G>C (p.Lys309Asn)
c.633G>C (p.Lys211Asn)
c.1014G>C (p.Lys338Asn)
2g.48688528C>TCA1653055GTF2A1L,LHCGR,STON1-GTF2A1Lc.1269G>A (p.Lys423=)
c.948-389G>A (n.948-389G>A)
c.3441+16848C>T (n.3441+16848C>T)
c.*13G>A (n.*13G>A)
c.1188G>A (p.Lys396=)
c.276+16848C>T (n.276+16848C>T)
c.*220+5696G>A (n.*220+5696G>A)
c.312G>A (p.Lys104=)
c.339G>A (p.Lys113=)
c.1194G>A (p.Lys398=)
c.1008G>A (p.Lys336=)
c.927G>A (p.Lys309=)
c.633G>A (p.Lys211=)
c.1014G>A (p.Lys338=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688529T>ACA346748359GTF2A1L,LHCGR,STON1-GTF2A1Lc.1268A>T (p.Lys423Met)
c.948-390A>T (n.948-390A>T)
c.3441+16849T>A (n.3441+16849T>A)
c.*12A>T (n.*12A>T)
c.1187A>T (p.Lys396Met)
c.276+16849T>A (n.276+16849T>A)
c.*220+5695A>T (n.*220+5695A>T)
c.311A>T (p.Lys104Met)
c.338A>T (p.Lys113Met)
c.1193A>T (p.Lys398Met)
c.1007A>T (p.Lys336Met)
c.926A>T (p.Lys309Met)
c.632A>T (p.Lys211Met)
c.1013A>T (p.Lys338Met)
2g.48688529T>CCA346748361GTF2A1L,LHCGR,STON1-GTF2A1Lc.1268A>G (p.Lys423Arg)
c.948-390A>G (n.948-390A>G)
c.3441+16849T>C (n.3441+16849T>C)
c.*12A>G (n.*12A>G)
c.1187A>G (p.Lys396Arg)
c.276+16849T>C (n.276+16849T>C)
c.*220+5695A>G (n.*220+5695A>G)
c.311A>G (p.Lys104Arg)
c.338A>G (p.Lys113Arg)
c.1193A>G (p.Lys398Arg)
c.1007A>G (p.Lys336Arg)
c.926A>G (p.Lys309Arg)
c.632A>G (p.Lys211Arg)
c.1013A>G (p.Lys338Arg)
2g.48688529T>GCA346748357GTF2A1L,LHCGR,STON1-GTF2A1Lc.1268A>C (p.Lys423Thr)
c.948-390A>C (n.948-390A>C)
c.3441+16849T>G (n.3441+16849T>G)
c.*12A>C (n.*12A>C)
c.1187A>C (p.Lys396Thr)
c.276+16849T>G (n.276+16849T>G)
c.*220+5695A>C (n.*220+5695A>C)
c.311A>C (p.Lys104Thr)
c.338A>C (p.Lys113Thr)
c.1193A>C (p.Lys398Thr)
c.1007A>C (p.Lys336Thr)
c.926A>C (p.Lys309Thr)
c.632A>C (p.Lys211Thr)
c.1013A>C (p.Lys338Thr)
2g.48688530T>ACA346748363GTF2A1L,LHCGR,STON1-GTF2A1Lc.1267A>T (p.Lys423Ter)
c.948-391A>T (n.948-391A>T)
c.3441+16850T>A (n.3441+16850T>A)
c.*11A>T (n.*11A>T)
c.1186A>T (p.Lys396Ter)
c.276+16850T>A (n.276+16850T>A)
c.*220+5694A>T (n.*220+5694A>T)
c.310A>T (p.Lys104Ter)
c.337A>T (p.Lys113Ter)
c.1192A>T (p.Lys398Ter)
c.1006A>T (p.Lys336Ter)
c.925A>T (p.Lys309Ter)
c.631A>T (p.Lys211Ter)
c.1012A>T (p.Lys338Ter)
2g.48688530T>CCA346748370GTF2A1L,LHCGR,STON1-GTF2A1Lc.1267A>G (p.Lys423Glu)
c.948-391A>G (n.948-391A>G)
c.3441+16850T>C (n.3441+16850T>C)
c.*11A>G (n.*11A>G)
c.1186A>G (p.Lys396Glu)
c.276+16850T>C (n.276+16850T>C)
c.*220+5694A>G (n.*220+5694A>G)
c.310A>G (p.Lys104Glu)
c.337A>G (p.Lys113Glu)
c.1192A>G (p.Lys398Glu)
c.1006A>G (p.Lys336Glu)
c.925A>G (p.Lys309Glu)
c.631A>G (p.Lys211Glu)
c.1012A>G (p.Lys338Glu)
 dbSNP gnomAD v2 gnomAD v4
2g.48688530T>GCA346748366GTF2A1L,LHCGR,STON1-GTF2A1Lc.1267A>C (p.Lys423Gln)
c.948-391A>C (n.948-391A>C)
c.3441+16850T>G (n.3441+16850T>G)
c.*11A>C (n.*11A>C)
c.1186A>C (p.Lys396Gln)
c.276+16850T>G (n.276+16850T>G)
c.*220+5694A>C (n.*220+5694A>C)
c.310A>C (p.Lys104Gln)
c.337A>C (p.Lys113Gln)
c.1192A>C (p.Lys398Gln)
c.1006A>C (p.Lys336Gln)
c.925A>C (p.Lys309Gln)
c.631A>C (p.Lys211Gln)
c.1012A>C (p.Lys338Gln)
2g.48688530T=CA1248601174GTF2A1L,LHCGR,STON1-GTF2A1Lc.1267A= (p.Lys423=)
c.948-391A= (n.948-391A=)
c.3441+16850T= (n.3441+16850T=)
c.*11A= (n.*11A=)
c.1186A= (p.Lys396=)
c.276+16850T= (n.276+16850T=)
c.*220+5694A= (n.*220+5694A=)
c.310A= (p.Lys104=)
c.337A= (p.Lys113=)
c.1192A= (p.Lys398=)
c.1006A= (p.Lys336=)
c.925A= (p.Lys309=)
c.631A= (p.Lys211=)
c.1012A= (p.Lys338=)
2g.48688531G>ACA426124549GTF2A1L,LHCGR,STON1-GTF2A1Lc.1266C>T (p.Thr422=)
c.948-392C>T (n.948-392C>T)
c.3441+16851G>A (n.3441+16851G>A)
c.*10C>T (n.*10C>T)
c.1185C>T (p.Thr395=)
c.276+16851G>A (n.276+16851G>A)
c.*220+5693C>T (n.*220+5693C>T)
c.309C>T (p.Thr103=)
c.336C>T (p.Thr112=)
c.1191C>T (p.Thr397=)
c.1005C>T (p.Thr335=)
c.924C>T (p.Thr308=)
c.630C>T (p.Thr210=)
c.1011C>T (p.Thr337=)
2g.48688531G>CCA426124550GTF2A1L,LHCGR,STON1-GTF2A1Lc.1266C>G (p.Thr422=)
c.948-392C>G (n.948-392C>G)
c.3441+16851G>C (n.3441+16851G>C)
c.*10C>G (n.*10C>G)
c.1185C>G (p.Thr395=)
c.276+16851G>C (n.276+16851G>C)
c.*220+5693C>G (n.*220+5693C>G)
c.309C>G (p.Thr103=)
c.336C>G (p.Thr112=)
c.1191C>G (p.Thr397=)
c.1005C>G (p.Thr335=)
c.924C>G (p.Thr308=)
c.630C>G (p.Thr210=)
c.1011C>G (p.Thr337=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48688531G=CA1248601175GTF2A1L,LHCGR,STON1-GTF2A1Lc.1266C= (p.Thr422=)
c.948-392C= (n.948-392C=)
c.3441+16851G= (n.3441+16851G=)
c.*10C= (n.*10C=)
c.1185C= (p.Thr395=)
c.276+16851G= (n.276+16851G=)
c.*220+5693C= (n.*220+5693C=)
c.309C= (p.Thr103=)
c.336C= (p.Thr112=)
c.1191C= (p.Thr397=)
c.1005C= (p.Thr335=)
c.924C= (p.Thr308=)
c.630C= (p.Thr210=)
c.1011C= (p.Thr337=)
2g.48688531G>TCA426124551GTF2A1L,LHCGR,STON1-GTF2A1Lc.1266C>A (p.Thr422=)
c.948-392C>A (n.948-392C>A)
c.3441+16851G>T (n.3441+16851G>T)
c.*10C>A (n.*10C>A)
c.1185C>A (p.Thr395=)
c.276+16851G>T (n.276+16851G>T)
c.*220+5693C>A (n.*220+5693C>A)
c.309C>A (p.Thr103=)
c.336C>A (p.Thr112=)
c.1191C>A (p.Thr397=)
c.1005C>A (p.Thr335=)
c.924C>A (p.Thr308=)
c.630C>A (p.Thr210=)
c.1011C>A (p.Thr337=)
2g.48688532G>ACA346748372GTF2A1L,LHCGR,STON1-GTF2A1Lc.1265C>T (p.Thr422Ile)
c.948-393C>T (n.948-393C>T)
c.3441+16852G>A (n.3441+16852G>A)
c.*9C>T (n.*9C>T)
c.1184C>T (p.Thr395Ile)
c.276+16852G>A (n.276+16852G>A)
c.*220+5692C>T (n.*220+5692C>T)
c.308C>T (p.Thr103Ile)
c.335C>T (p.Thr112Ile)
c.1190C>T (p.Thr397Ile)
c.1004C>T (p.Thr335Ile)
c.923C>T (p.Thr308Ile)
c.629C>T (p.Thr210Ile)
c.1010C>T (p.Thr337Ile)
 dbSNP
2g.48688532G>CCA346748374GTF2A1L,LHCGR,STON1-GTF2A1Lc.1265C>G (p.Thr422Ser)
c.948-393C>G (n.948-393C>G)
c.3441+16852G>C (n.3441+16852G>C)
c.*9C>G (n.*9C>G)
c.1184C>G (p.Thr395Ser)
c.276+16852G>C (n.276+16852G>C)
c.*220+5692C>G (n.*220+5692C>G)
c.308C>G (p.Thr103Ser)
c.335C>G (p.Thr112Ser)
c.1190C>G (p.Thr397Ser)
c.1004C>G (p.Thr335Ser)
c.923C>G (p.Thr308Ser)
c.629C>G (p.Thr210Ser)
c.1010C>G (p.Thr337Ser)
 gnomAD v4
2g.48688532G>TCA346748375GTF2A1L,LHCGR,STON1-GTF2A1Lc.1265C>A (p.Thr422Asn)
c.948-393C>A (n.948-393C>A)
c.3441+16852G>T (n.3441+16852G>T)
c.*9C>A (n.*9C>A)
c.1184C>A (p.Thr395Asn)
c.276+16852G>T (n.276+16852G>T)
c.*220+5692C>A (n.*220+5692C>A)
c.308C>A (p.Thr103Asn)
c.335C>A (p.Thr112Asn)
c.1190C>A (p.Thr397Asn)
c.1004C>A (p.Thr335Asn)
c.923C>A (p.Thr308Asn)
c.629C>A (p.Thr210Asn)
c.1010C>A (p.Thr337Asn)
 gnomAD v4
2g.48688533T>ACA346748377GTF2A1L,LHCGR,STON1-GTF2A1Lc.1264A>T (p.Thr422Ser)
c.948-394A>T (n.948-394A>T)
c.3441+16853T>A (n.3441+16853T>A)
c.*8A>T (n.*8A>T)
c.1183A>T (p.Thr395Ser)
c.276+16853T>A (n.276+16853T>A)
c.*220+5691A>T (n.*220+5691A>T)
c.307A>T (p.Thr103Ser)
c.334A>T (p.Thr112Ser)
c.1189A>T (p.Thr397Ser)
c.1003A>T (p.Thr335Ser)
c.922A>T (p.Thr308Ser)
c.628A>T (p.Thr210Ser)
c.1009A>T (p.Thr337Ser)
2g.48688533T>CCA346748379GTF2A1L,LHCGR,STON1-GTF2A1Lc.1264A>G (p.Thr422Ala)
c.948-394A>G (n.948-394A>G)
c.3441+16853T>C (n.3441+16853T>C)
c.*8A>G (n.*8A>G)
c.1183A>G (p.Thr395Ala)
c.276+16853T>C (n.276+16853T>C)
c.*220+5691A>G (n.*220+5691A>G)
c.307A>G (p.Thr103Ala)
c.334A>G (p.Thr112Ala)
c.1189A>G (p.Thr397Ala)
c.1003A>G (p.Thr335Ala)
c.922A>G (p.Thr308Ala)
c.628A>G (p.Thr210Ala)
c.1009A>G (p.Thr337Ala)
2g.48688533T>GCA346748381GTF2A1L,LHCGR,STON1-GTF2A1Lc.1264A>C (p.Thr422Pro)
c.948-394A>C (n.948-394A>C)
c.3441+16853T>G (n.3441+16853T>G)
c.*8A>C (n.*8A>C)
c.1183A>C (p.Thr395Pro)
c.276+16853T>G (n.276+16853T>G)
c.*220+5691A>C (n.*220+5691A>C)
c.307A>C (p.Thr103Pro)
c.334A>C (p.Thr112Pro)
c.1189A>C (p.Thr397Pro)
c.1003A>C (p.Thr335Pro)
c.922A>C (p.Thr308Pro)
c.628A>C (p.Thr210Pro)
c.1009A>C (p.Thr337Pro)
 dbSNP
2g.48688533T=CA1248601176GTF2A1L,LHCGR,STON1-GTF2A1Lc.1264A= (p.Thr422=)
c.948-394A= (n.948-394A=)
c.3441+16853T= (n.3441+16853T=)
c.*8A= (n.*8A=)
c.1183A= (p.Thr395=)
c.276+16853T= (n.276+16853T=)
c.*220+5691A= (n.*220+5691A=)
c.307A= (p.Thr103=)
c.334A= (p.Thr112=)
c.1189A= (p.Thr397=)
c.1003A= (p.Thr335=)
c.922A= (p.Thr308=)
c.628A= (p.Thr210=)
c.1009A= (p.Thr337=)
2g.48688534T>ACA1653056GTF2A1L,LHCGR,STON1-GTF2A1Lc.1263A>T (p.Gln421His)
c.948-395A>T (n.948-395A>T)
c.3441+16854T>A (n.3441+16854T>A)
c.*7A>T (n.*7A>T)
c.1182A>T (p.Gln394His)
c.276+16854T>A (n.276+16854T>A)
c.*220+5690A>T (n.*220+5690A>T)
c.306A>T (p.Gln102His)
c.333A>T (p.Gln111His)
c.1188A>T (p.Gln396His)
c.1002A>T (p.Gln334His)
c.921A>T (p.Gln307His)
c.627A>T (p.Gln209His)
c.1008A>T (p.Gln336His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688534T>CCA426124552GTF2A1L,LHCGR,STON1-GTF2A1Lc.1263A>G (p.Gln421=)
c.948-395A>G (n.948-395A>G)
c.3441+16854T>C (n.3441+16854T>C)
c.*7A>G (n.*7A>G)
c.1182A>G (p.Gln394=)
c.276+16854T>C (n.276+16854T>C)
c.*220+5690A>G (n.*220+5690A>G)
c.306A>G (p.Gln102=)
c.333A>G (p.Gln111=)
c.1188A>G (p.Gln396=)
c.1002A>G (p.Gln334=)
c.921A>G (p.Gln307=)
c.627A>G (p.Gln209=)
c.1008A>G (p.Gln336=)
 dbSNP
2g.48688534T>GCA46753094GTF2A1L,LHCGR,STON1-GTF2A1Lc.1263A>C (p.Gln421His)
c.948-395A>C (n.948-395A>C)
c.3441+16854T>G (n.3441+16854T>G)
c.*7A>C (n.*7A>C)
c.1182A>C (p.Gln394His)
c.276+16854T>G (n.276+16854T>G)
c.*220+5690A>C (n.*220+5690A>C)
c.306A>C (p.Gln102His)
c.333A>C (p.Gln111His)
c.1188A>C (p.Gln396His)
c.1002A>C (p.Gln334His)
c.921A>C (p.Gln307His)
c.627A>C (p.Gln209His)
c.1008A>C (p.Gln336His)
 dbSNP gnomAD v4
2g.48688534T=CA1248601177GTF2A1L,LHCGR,STON1-GTF2A1Lc.1263A= (p.Gln421=)
c.948-395A= (n.948-395A=)
c.3441+16854T= (n.3441+16854T=)
c.*7A= (n.*7A=)
c.1182A= (p.Gln394=)
c.276+16854T= (n.276+16854T=)
c.*220+5690A= (n.*220+5690A=)
c.306A= (p.Gln102=)
c.333A= (p.Gln111=)
c.1188A= (p.Gln396=)
c.1002A= (p.Gln334=)
c.921A= (p.Gln307=)
c.627A= (p.Gln209=)
c.1008A= (p.Gln336=)
2g.48688535T>ACA346748386GTF2A1L,LHCGR,STON1-GTF2A1Lc.1262A>T (p.Gln421Leu)
c.948-396A>T (n.948-396A>T)
c.3441+16855T>A (n.3441+16855T>A)
c.*6A>T (n.*6A>T)
c.1181A>T (p.Gln394Leu)
c.276+16855T>A (n.276+16855T>A)
c.*220+5689A>T (n.*220+5689A>T)
c.305A>T (p.Gln102Leu)
c.332A>T (p.Gln111Leu)
c.1187A>T (p.Gln396Leu)
c.1001A>T (p.Gln334Leu)
c.920A>T (p.Gln307Leu)
c.626A>T (p.Gln209Leu)
c.1007A>T (p.Gln336Leu)
2g.48688535T>CCA346748388GTF2A1L,LHCGR,STON1-GTF2A1Lc.1262A>G (p.Gln421Arg)
c.948-396A>G (n.948-396A>G)
c.3441+16855T>C (n.3441+16855T>C)
c.*6A>G (n.*6A>G)
c.1181A>G (p.Gln394Arg)
c.276+16855T>C (n.276+16855T>C)
c.*220+5689A>G (n.*220+5689A>G)
c.305A>G (p.Gln102Arg)
c.332A>G (p.Gln111Arg)
c.1187A>G (p.Gln396Arg)
c.1001A>G (p.Gln334Arg)
c.920A>G (p.Gln307Arg)
c.626A>G (p.Gln209Arg)
c.1007A>G (p.Gln336Arg)
2g.48688535T>GCA346748390GTF2A1L,LHCGR,STON1-GTF2A1Lc.1262A>C (p.Gln421Pro)
c.948-396A>C (n.948-396A>C)
c.3441+16855T>G (n.3441+16855T>G)
c.*6A>C (n.*6A>C)
c.1181A>C (p.Gln394Pro)
c.276+16855T>G (n.276+16855T>G)
c.*220+5689A>C (n.*220+5689A>C)
c.305A>C (p.Gln102Pro)
c.332A>C (p.Gln111Pro)
c.1187A>C (p.Gln396Pro)
c.1001A>C (p.Gln334Pro)
c.920A>C (p.Gln307Pro)
c.626A>C (p.Gln209Pro)
c.1007A>C (p.Gln336Pro)
2g.48688536G>ACA346748396GTF2A1L,LHCGR,STON1-GTF2A1Lc.1261C>T (p.Gln421Ter)
c.948-397C>T (n.948-397C>T)
c.3441+16856G>A (n.3441+16856G>A)
c.*5C>T (n.*5C>T)
c.1180C>T (p.Gln394Ter)
c.276+16856G>A (n.276+16856G>A)
c.*220+5688C>T (n.*220+5688C>T)
c.304C>T (p.Gln102Ter)
c.331C>T (p.Gln111Ter)
c.1186C>T (p.Gln396Ter)
c.1000C>T (p.Gln334Ter)
c.919C>T (p.Gln307Ter)
c.625C>T (p.Gln209Ter)
c.1006C>T (p.Gln336Ter)
2g.48688536G>CCA346748394GTF2A1L,LHCGR,STON1-GTF2A1Lc.1261C>G (p.Gln421Glu)
c.948-397C>G (n.948-397C>G)
c.3441+16856G>C (n.3441+16856G>C)
c.*5C>G (n.*5C>G)
c.1180C>G (p.Gln394Glu)
c.276+16856G>C (n.276+16856G>C)
c.*220+5688C>G (n.*220+5688C>G)
c.304C>G (p.Gln102Glu)
c.331C>G (p.Gln111Glu)
c.1186C>G (p.Gln396Glu)
c.1000C>G (p.Gln334Glu)
c.919C>G (p.Gln307Glu)
c.625C>G (p.Gln209Glu)
c.1006C>G (p.Gln336Glu)
2g.48688536G>TCA346748392GTF2A1L,LHCGR,STON1-GTF2A1Lc.1261C>A (p.Gln421Lys)
c.948-397C>A (n.948-397C>A)
c.3441+16856G>T (n.3441+16856G>T)
c.*5C>A (n.*5C>A)
c.1180C>A (p.Gln394Lys)
c.276+16856G>T (n.276+16856G>T)
c.*220+5688C>A (n.*220+5688C>A)
c.304C>A (p.Gln102Lys)
c.331C>A (p.Gln111Lys)
c.1186C>A (p.Gln396Lys)
c.1000C>A (p.Gln334Lys)
c.919C>A (p.Gln307Lys)
c.625C>A (p.Gln209Lys)
c.1006C>A (p.Gln336Lys)
2g.48688537G>ACA426124553GTF2A1L,LHCGR,STON1-GTF2A1Lc.1260C>T (p.Ser420=)
c.948-398C>T (n.948-398C>T)
c.3441+16857G>A (n.3441+16857G>A)
c.*4C>T (n.*4C>T)
c.1179C>T (p.Ser393=)
c.276+16857G>A (n.276+16857G>A)
c.*220+5687C>T (n.*220+5687C>T)
c.303C>T (p.Ser101=)
c.330C>T (p.Ser110=)
c.1185C>T (p.Ser395=)
c.999C>T (p.Ser333=)
c.918C>T (p.Ser306=)
c.624C>T (p.Ser208=)
c.1005C>T (p.Ser335=)
2g.48688537G>CCA426124554GTF2A1L,LHCGR,STON1-GTF2A1Lc.1260C>G (p.Ser420=)
c.948-398C>G (n.948-398C>G)
c.3441+16857G>C (n.3441+16857G>C)
c.*4C>G (n.*4C>G)
c.1179C>G (p.Ser393=)
c.276+16857G>C (n.276+16857G>C)
c.*220+5687C>G (n.*220+5687C>G)
c.303C>G (p.Ser101=)
c.330C>G (p.Ser110=)
c.1185C>G (p.Ser395=)
c.999C>G (p.Ser333=)
c.918C>G (p.Ser306=)
c.624C>G (p.Ser208=)
c.1005C>G (p.Ser335=)
2g.48688537G>TCA426124555GTF2A1L,LHCGR,STON1-GTF2A1Lc.1260C>A (p.Ser420=)
c.948-398C>A (n.948-398C>A)
c.3441+16857G>T (n.3441+16857G>T)
c.*4C>A (n.*4C>A)
c.1179C>A (p.Ser393=)
c.276+16857G>T (n.276+16857G>T)
c.*220+5687C>A (n.*220+5687C>A)
c.303C>A (p.Ser101=)
c.330C>A (p.Ser110=)
c.1185C>A (p.Ser395=)
c.999C>A (p.Ser333=)
c.918C>A (p.Ser306=)
c.624C>A (p.Ser208=)
c.1005C>A (p.Ser335=)
2g.48688538G>ACA1653057GTF2A1L,LHCGR,STON1-GTF2A1Lc.1259C>T (p.Ser420Phe)
c.948-399C>T (n.948-399C>T)
c.3441+16858G>A (n.3441+16858G>A)
c.*3C>T (n.*3C>T)
c.1178C>T (p.Ser393Phe)
c.276+16858G>A (n.276+16858G>A)
c.*220+5686C>T (n.*220+5686C>T)
c.302C>T (p.Ser101Phe)
c.329C>T (p.Ser110Phe)
c.1184C>T (p.Ser395Phe)
c.998C>T (p.Ser333Phe)
c.917C>T (p.Ser306Phe)
c.623C>T (p.Ser208Phe)
c.1004C>T (p.Ser335Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688538G>CCA346748399GTF2A1L,LHCGR,STON1-GTF2A1Lc.1259C>G (p.Ser420Cys)
c.948-399C>G (n.948-399C>G)
c.3441+16858G>C (n.3441+16858G>C)
c.*3C>G (n.*3C>G)
c.1178C>G (p.Ser393Cys)
c.276+16858G>C (n.276+16858G>C)
c.*220+5686C>G (n.*220+5686C>G)
c.302C>G (p.Ser101Cys)
c.329C>G (p.Ser110Cys)
c.1184C>G (p.Ser395Cys)
c.998C>G (p.Ser333Cys)
c.917C>G (p.Ser306Cys)
c.623C>G (p.Ser208Cys)
c.1004C>G (p.Ser335Cys)
2g.48688538G=CA1248601178GTF2A1L,LHCGR,STON1-GTF2A1Lc.1259C= (p.Ser420=)
c.948-399C= (n.948-399C=)
c.3441+16858G= (n.3441+16858G=)
c.*3C= (n.*3C=)
c.1178C= (p.Ser393=)
c.276+16858G= (n.276+16858G=)
c.*220+5686C= (n.*220+5686C=)
c.302C= (p.Ser101=)
c.329C= (p.Ser110=)
c.1184C= (p.Ser395=)
c.998C= (p.Ser333=)
c.917C= (p.Ser306=)
c.623C= (p.Ser208=)
c.1004C= (p.Ser335=)
2g.48688538G>TCA346748401GTF2A1L,LHCGR,STON1-GTF2A1Lc.1259C>A (p.Ser420Tyr)
c.948-399C>A (n.948-399C>A)
c.3441+16858G>T (n.3441+16858G>T)
c.*3C>A (n.*3C>A)
c.1178C>A (p.Ser393Tyr)
c.276+16858G>T (n.276+16858G>T)
c.*220+5686C>A (n.*220+5686C>A)
c.302C>A (p.Ser101Tyr)
c.329C>A (p.Ser110Tyr)
c.1184C>A (p.Ser395Tyr)
c.998C>A (p.Ser333Tyr)
c.917C>A (p.Ser306Tyr)
c.623C>A (p.Ser208Tyr)
c.1004C>A (p.Ser335Tyr)
2g.48688539A>CCA346748404GTF2A1L,LHCGR,STON1-GTF2A1Lc.1258T>G (p.Ser420Ala)
c.948-400T>G (n.948-400T>G)
c.3441+16859A>C (n.3441+16859A>C)
c.*2T>G (n.*2T>G)
c.1177T>G (p.Ser393Ala)
c.276+16859A>C (n.276+16859A>C)
c.*220+5685T>G (n.*220+5685T>G)
c.301T>G (p.Ser101Ala)
c.328T>G (p.Ser110Ala)
c.1183T>G (p.Ser395Ala)
c.997T>G (p.Ser333Ala)
c.916T>G (p.Ser306Ala)
c.622T>G (p.Ser208Ala)
c.1003T>G (p.Ser335Ala)
2g.48688539A>GCA346748406GTF2A1L,LHCGR,STON1-GTF2A1Lc.1258T>C (p.Ser420Pro)
c.948-400T>C (n.948-400T>C)
c.3441+16859A>G (n.3441+16859A>G)
c.*2T>C (n.*2T>C)
c.1177T>C (p.Ser393Pro)
c.276+16859A>G (n.276+16859A>G)
c.*220+5685T>C (n.*220+5685T>C)
c.301T>C (p.Ser101Pro)
c.328T>C (p.Ser110Pro)
c.1183T>C (p.Ser395Pro)
c.997T>C (p.Ser333Pro)
c.916T>C (p.Ser306Pro)
c.622T>C (p.Ser208Pro)
c.1003T>C (p.Ser335Pro)
2g.48688539A>TCA346748408GTF2A1L,LHCGR,STON1-GTF2A1Lc.1258T>A (p.Ser420Thr)
c.948-400T>A (n.948-400T>A)
c.3441+16859A>T (n.3441+16859A>T)
c.*2T>A (n.*2T>A)
c.1177T>A (p.Ser393Thr)
c.276+16859A>T (n.276+16859A>T)
c.*220+5685T>A (n.*220+5685T>A)
c.301T>A (p.Ser101Thr)
c.328T>A (p.Ser110Thr)
c.1183T>A (p.Ser395Thr)
c.997T>A (p.Ser333Thr)
c.916T>A (p.Ser306Thr)
c.622T>A (p.Ser208Thr)
c.1003T>A (p.Ser335Thr)
2g.48688540A>CCA346748412GTF2A1L,LHCGR,STON1-GTF2A1Lc.1257T>G (p.Asp419Glu)
c.948-401T>G (n.948-401T>G)
c.3441+16860A>C (n.3441+16860A>C)
c.*1T>G (n.*1T>G)
c.1176T>G (p.Asp392Glu)
c.276+16860A>C (n.276+16860A>C)
c.*220+5684T>G (n.*220+5684T>G)
c.300T>G (p.Asp100Glu)
c.327T>G (p.Asp109Glu)
c.1182T>G (p.Asp394Glu)
c.996T>G (p.Asp332Glu)
c.915T>G (p.Asp305Glu)
c.621T>G (p.Asp207Glu)
c.1002T>G (p.Asp334Glu)
2g.48688540A>GCA426124556GTF2A1L,LHCGR,STON1-GTF2A1Lc.1257T>C (p.Asp419=)
c.948-401T>C (n.948-401T>C)
c.3441+16860A>G (n.3441+16860A>G)
c.*1T>C (n.*1T>C)
c.1176T>C (p.Asp392=)
c.276+16860A>G (n.276+16860A>G)
c.*220+5684T>C (n.*220+5684T>C)
c.300T>C (p.Asp100=)
c.327T>C (p.Asp109=)
c.1182T>C (p.Asp394=)
c.996T>C (p.Asp332=)
c.915T>C (p.Asp305=)
c.621T>C (p.Asp207=)
c.1002T>C (p.Asp334=)
2g.48688540A>TCA346748414GTF2A1L,LHCGR,STON1-GTF2A1Lc.1257T>A (p.Asp419Glu)
c.948-401T>A (n.948-401T>A)
c.3441+16860A>T (n.3441+16860A>T)
c.*1T>A (n.*1T>A)
c.1176T>A (p.Asp392Glu)
c.276+16860A>T (n.276+16860A>T)
c.*220+5684T>A (n.*220+5684T>A)
c.300T>A (p.Asp100Glu)
c.327T>A (p.Asp109Glu)
c.1182T>A (p.Asp394Glu)
c.996T>A (p.Asp332Glu)
c.915T>A (p.Asp305Glu)
c.621T>A (p.Asp207Glu)
c.1002T>A (p.Asp334Glu)
2g.48688541T>ACA346748417GTF2A1L,LHCGR,STON1-GTF2A1Lc.1256A>T (p.Asp419Val)
c.948-402A>T (n.948-402A>T)
c.3441+16861T>A (n.3441+16861T>A)
c.990A>T (p.Ter330Cys)
c.1175A>T (p.Asp392Val)
c.276+16861T>A (n.276+16861T>A)
c.*220+5683A>T (n.*220+5683A>T)
c.299A>T (p.Asp100Val)
c.326A>T (p.Asp109Val)
c.1181A>T (p.Asp394Val)
c.995A>T (p.Asp332Val)
c.914A>T (p.Asp305Val)
c.620A>T (p.Asp207Val)
c.1001A>T (p.Asp334Val)
2g.48688541T>CCA346748419GTF2A1L,LHCGR,STON1-GTF2A1Lc.1256A>G (p.Asp419Gly)
c.948-402A>G (n.948-402A>G)
c.3441+16861T>C (n.3441+16861T>C)
c.990A>G (p.Ter330Trp)
c.1175A>G (p.Asp392Gly)
c.276+16861T>C (n.276+16861T>C)
c.*220+5683A>G (n.*220+5683A>G)
c.299A>G (p.Asp100Gly)
c.326A>G (p.Asp109Gly)
c.1181A>G (p.Asp394Gly)
c.995A>G (p.Asp332Gly)
c.914A>G (p.Asp305Gly)
c.620A>G (p.Asp207Gly)
c.1001A>G (p.Asp334Gly)
2g.48688541T>GCA346748422GTF2A1L,LHCGR,STON1-GTF2A1Lc.1256A>C (p.Asp419Ala)
c.948-402A>C (n.948-402A>C)
c.3441+16861T>G (n.3441+16861T>G)
c.990A>C (p.Ter330Cys)
c.1175A>C (p.Asp392Ala)
c.276+16861T>G (n.276+16861T>G)
c.*220+5683A>C (n.*220+5683A>C)
c.299A>C (p.Asp100Ala)
c.326A>C (p.Asp109Ala)
c.1181A>C (p.Asp394Ala)
c.995A>C (p.Asp332Ala)
c.914A>C (p.Asp305Ala)
c.620A>C (p.Asp207Ala)
c.1001A>C (p.Asp334Ala)
2g.48688542C>ACA346748427GTF2A1L,LHCGR,STON1-GTF2A1Lc.1255G>T (p.Asp419Tyr)
c.948-403G>T (n.948-403G>T)
c.3441+16862C>A (n.3441+16862C>A)
c.989G>T (p.Ter330Leu)
c.1174G>T (p.Asp392Tyr)
c.276+16862C>A (n.276+16862C>A)
c.*220+5682G>T (n.*220+5682G>T)
c.298G>T (p.Asp100Tyr)
c.325G>T (p.Asp109Tyr)
c.1180G>T (p.Asp394Tyr)
c.994G>T (p.Asp332Tyr)
c.913G>T (p.Asp305Tyr)
c.619G>T (p.Asp207Tyr)
c.1000G>T (p.Asp334Tyr)
2g.48688542C>GCA346748426GTF2A1L,LHCGR,STON1-GTF2A1Lc.1255G>C (p.Asp419His)
c.948-403G>C (n.948-403G>C)
c.3441+16862C>G (n.3441+16862C>G)
c.989G>C (p.Ter330Ser)
c.1174G>C (p.Asp392His)
c.276+16862C>G (n.276+16862C>G)
c.*220+5682G>C (n.*220+5682G>C)
c.298G>C (p.Asp100His)
c.325G>C (p.Asp109His)
c.1180G>C (p.Asp394His)
c.994G>C (p.Asp332His)
c.913G>C (p.Asp305His)
c.619G>C (p.Asp207His)
c.1000G>C (p.Asp334His)
2g.48688542C>TCA346748424GTF2A1L,LHCGR,STON1-GTF2A1Lc.1255G>A (p.Asp419Asn)
c.948-403G>A (n.948-403G>A)
c.3441+16862C>T (n.3441+16862C>T)
c.989G>A (p.Ter330=)
c.1174G>A (p.Asp392Asn)
c.276+16862C>T (n.276+16862C>T)
c.*220+5682G>A (n.*220+5682G>A)
c.298G>A (p.Asp100Asn)
c.325G>A (p.Asp109Asn)
c.1180G>A (p.Asp394Asn)
c.994G>A (p.Asp332Asn)
c.913G>A (p.Asp305Asn)
c.619G>A (p.Asp207Asn)
c.1000G>A (p.Asp334Asn)

Number of alleles fetched