Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.48687732C>ACA346742914GTF2A1L,LHCGR,STON1-GTF2A1Lc.2065G>T (p.Ala689Ser)
c.*377G>T (n.*377G>T)
c.3441+16052C>A (n.3441+16052C>A)
c.*809G>T (n.*809G>T)
c.1984G>T (p.Ala662Ser)
c.276+16052C>A (n.276+16052C>A)
c.*220+6492G>T (n.*220+6492G>T)
c.1108G>T (p.Ala370Ser)
c.1135G>T (p.Ala379Ser)
c.1990G>T (p.Ala664Ser)
c.1804G>T (p.Ala602Ser)
c.1723G>T (p.Ala575Ser)
c.1429G>T (p.Ala477Ser)
c.1810G>T (p.Ala604Ser)
 COSMIC
2g.48687732C=CA1248600817GTF2A1L,LHCGR,STON1-GTF2A1Lc.2065G= (p.Ala689=)
c.*377G= (n.*377G=)
c.3441+16052C= (n.3441+16052C=)
c.*809G= (n.*809G=)
c.1984G= (p.Ala662=)
c.276+16052C= (n.276+16052C=)
c.*220+6492G= (n.*220+6492G=)
c.1108G= (p.Ala370=)
c.1135G= (p.Ala379=)
c.1990G= (p.Ala664=)
c.1804G= (p.Ala602=)
c.1723G= (p.Ala575=)
c.1429G= (p.Ala477=)
c.1810G= (p.Ala604=)
2g.48687732C>GCA346742916GTF2A1L,LHCGR,STON1-GTF2A1Lc.2065G>C (p.Ala689Pro)
c.*377G>C (n.*377G>C)
c.3441+16052C>G (n.3441+16052C>G)
c.*809G>C (n.*809G>C)
c.1984G>C (p.Ala662Pro)
c.276+16052C>G (n.276+16052C>G)
c.*220+6492G>C (n.*220+6492G>C)
c.1108G>C (p.Ala370Pro)
c.1135G>C (p.Ala379Pro)
c.1990G>C (p.Ala664Pro)
c.1804G>C (p.Ala602Pro)
c.1723G>C (p.Ala575Pro)
c.1429G>C (p.Ala477Pro)
c.1810G>C (p.Ala604Pro)
2g.48687732C>TCA1652938GTF2A1L,LHCGR,STON1-GTF2A1Lc.2065G>A (p.Ala689Thr)
c.*377G>A (n.*377G>A)
c.3441+16052C>T (n.3441+16052C>T)
c.*809G>A (n.*809G>A)
c.1984G>A (p.Ala662Thr)
c.276+16052C>T (n.276+16052C>T)
c.*220+6492G>A (n.*220+6492G>A)
c.1108G>A (p.Ala370Thr)
c.1135G>A (p.Ala379Thr)
c.1990G>A (p.Ala664Thr)
c.1804G>A (p.Ala602Thr)
c.1723G>A (p.Ala575Thr)
c.1429G>A (p.Ala477Thr)
c.1810G>A (p.Ala604Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48687733T>ACA426124480GTF2A1L,LHCGR,STON1-GTF2A1Lc.2064A>T (p.Thr688=)
c.*376A>T (n.*376A>T)
c.3441+16053T>A (n.3441+16053T>A)
c.*808A>T (n.*808A>T)
c.1983A>T (p.Thr661=)
c.276+16053T>A (n.276+16053T>A)
c.*220+6491A>T (n.*220+6491A>T)
c.1107A>T (p.Thr369=)
c.1134A>T (p.Thr378=)
c.1989A>T (p.Thr663=)
c.1803A>T (p.Thr601=)
c.1722A>T (p.Thr574=)
c.1428A>T (p.Thr476=)
c.1809A>T (p.Thr603=)
2g.48687733T>CCA426124481GTF2A1L,LHCGR,STON1-GTF2A1Lc.2064A>G (p.Thr688=)
c.*376A>G (n.*376A>G)
c.3441+16053T>C (n.3441+16053T>C)
c.*808A>G (n.*808A>G)
c.1983A>G (p.Thr661=)
c.276+16053T>C (n.276+16053T>C)
c.*220+6491A>G (n.*220+6491A>G)
c.1107A>G (p.Thr369=)
c.1134A>G (p.Thr378=)
c.1989A>G (p.Thr663=)
c.1803A>G (p.Thr601=)
c.1722A>G (p.Thr574=)
c.1428A>G (p.Thr476=)
c.1809A>G (p.Thr603=)
2g.48687733T>GCA426124482GTF2A1L,LHCGR,STON1-GTF2A1Lc.2064A>C (p.Thr688=)
c.*376A>C (n.*376A>C)
c.3441+16053T>G (n.3441+16053T>G)
c.*808A>C (n.*808A>C)
c.1983A>C (p.Thr661=)
c.276+16053T>G (n.276+16053T>G)
c.*220+6491A>C (n.*220+6491A>C)
c.1107A>C (p.Thr369=)
c.1134A>C (p.Thr378=)
c.1989A>C (p.Thr663=)
c.1803A>C (p.Thr601=)
c.1722A>C (p.Thr574=)
c.1428A>C (p.Thr476=)
c.1809A>C (p.Thr603=)
2g.48687734G>ACA346742919GTF2A1L,LHCGR,STON1-GTF2A1Lc.2063C>T (p.Thr688Ile)
c.*375C>T (n.*375C>T)
c.3441+16054G>A (n.3441+16054G>A)
c.*807C>T (n.*807C>T)
c.1982C>T (p.Thr661Ile)
c.276+16054G>A (n.276+16054G>A)
c.*220+6490C>T (n.*220+6490C>T)
c.1106C>T (p.Thr369Ile)
c.1133C>T (p.Thr378Ile)
c.1988C>T (p.Thr663Ile)
c.1802C>T (p.Thr601Ile)
c.1721C>T (p.Thr574Ile)
c.1427C>T (p.Thr476Ile)
c.1808C>T (p.Thr603Ile)
2g.48687734G>CCA346742920GTF2A1L,LHCGR,STON1-GTF2A1Lc.2063C>G (p.Thr688Arg)
c.*375C>G (n.*375C>G)
c.3441+16054G>C (n.3441+16054G>C)
c.*807C>G (n.*807C>G)
c.1982C>G (p.Thr661Arg)
c.276+16054G>C (n.276+16054G>C)
c.*220+6490C>G (n.*220+6490C>G)
c.1106C>G (p.Thr369Arg)
c.1133C>G (p.Thr378Arg)
c.1988C>G (p.Thr663Arg)
c.1802C>G (p.Thr601Arg)
c.1721C>G (p.Thr574Arg)
c.1427C>G (p.Thr476Arg)
c.1808C>G (p.Thr603Arg)
2g.48687734G>TCA346742921GTF2A1L,LHCGR,STON1-GTF2A1Lc.2063C>A (p.Thr688Lys)
c.*375C>A (n.*375C>A)
c.3441+16054G>T (n.3441+16054G>T)
c.*807C>A (n.*807C>A)
c.1982C>A (p.Thr661Lys)
c.276+16054G>T (n.276+16054G>T)
c.*220+6490C>A (n.*220+6490C>A)
c.1106C>A (p.Thr369Lys)
c.1133C>A (p.Thr378Lys)
c.1988C>A (p.Thr663Lys)
c.1802C>A (p.Thr601Lys)
c.1721C>A (p.Thr574Lys)
c.1427C>A (p.Thr476Lys)
c.1808C>A (p.Thr603Lys)
2g.48687735T>ACA346742925GTF2A1L,LHCGR,STON1-GTF2A1Lc.2062A>T (p.Thr688Ser)
c.*374A>T (n.*374A>T)
c.3441+16055T>A (n.3441+16055T>A)
c.*806A>T (n.*806A>T)
c.1981A>T (p.Thr661Ser)
c.276+16055T>A (n.276+16055T>A)
c.*220+6489A>T (n.*220+6489A>T)
c.1105A>T (p.Thr369Ser)
c.1132A>T (p.Thr378Ser)
c.1987A>T (p.Thr663Ser)
c.1801A>T (p.Thr601Ser)
c.1720A>T (p.Thr574Ser)
c.1426A>T (p.Thr476Ser)
c.1807A>T (p.Thr603Ser)
2g.48687735T>CCA346742928GTF2A1L,LHCGR,STON1-GTF2A1Lc.2062A>G (p.Thr688Ala)
c.*374A>G (n.*374A>G)
c.3441+16055T>C (n.3441+16055T>C)
c.*806A>G (n.*806A>G)
c.1981A>G (p.Thr661Ala)
c.276+16055T>C (n.276+16055T>C)
c.*220+6489A>G (n.*220+6489A>G)
c.1105A>G (p.Thr369Ala)
c.1132A>G (p.Thr378Ala)
c.1987A>G (p.Thr663Ala)
c.1801A>G (p.Thr601Ala)
c.1720A>G (p.Thr574Ala)
c.1426A>G (p.Thr476Ala)
c.1807A>G (p.Thr603Ala)
2g.48687735T>GCA346742931GTF2A1L,LHCGR,STON1-GTF2A1Lc.2062A>C (p.Thr688Pro)
c.*374A>C (n.*374A>C)
c.3441+16055T>G (n.3441+16055T>G)
c.*806A>C (n.*806A>C)
c.1981A>C (p.Thr661Pro)
c.276+16055T>G (n.276+16055T>G)
c.*220+6489A>C (n.*220+6489A>C)
c.1105A>C (p.Thr369Pro)
c.1132A>C (p.Thr378Pro)
c.1987A>C (p.Thr663Pro)
c.1801A>C (p.Thr601Pro)
c.1720A>C (p.Thr574Pro)
c.1426A>C (p.Thr476Pro)
c.1807A>C (p.Thr603Pro)
 gnomAD v4
2g.48687736A>CCA426124488GTF2A1L,LHCGR,STON1-GTF2A1Lc.2061T>G (p.Gly687=)
c.*373T>G (n.*373T>G)
c.3441+16056A>C (n.3441+16056A>C)
c.*805T>G (n.*805T>G)
c.1980T>G (p.Gly660=)
c.276+16056A>C (n.276+16056A>C)
c.*220+6488T>G (n.*220+6488T>G)
c.1104T>G (p.Gly368=)
c.1131T>G (p.Gly377=)
c.1986T>G (p.Gly662=)
c.1800T>G (p.Gly600=)
c.1719T>G (p.Gly573=)
c.1425T>G (p.Gly475=)
c.1806T>G (p.Gly602=)
2g.48687736A>GCA426124487GTF2A1L,LHCGR,STON1-GTF2A1Lc.2061T>C (p.Gly687=)
c.*373T>C (n.*373T>C)
c.3441+16056A>G (n.3441+16056A>G)
c.*805T>C (n.*805T>C)
c.1980T>C (p.Gly660=)
c.276+16056A>G (n.276+16056A>G)
c.*220+6488T>C (n.*220+6488T>C)
c.1104T>C (p.Gly368=)
c.1131T>C (p.Gly377=)
c.1986T>C (p.Gly662=)
c.1800T>C (p.Gly600=)
c.1719T>C (p.Gly573=)
c.1425T>C (p.Gly475=)
c.1806T>C (p.Gly602=)
2g.48687736A>TCA426124486GTF2A1L,LHCGR,STON1-GTF2A1Lc.2061T>A (p.Gly687=)
c.*373T>A (n.*373T>A)
c.3441+16056A>T (n.3441+16056A>T)
c.*805T>A (n.*805T>A)
c.1980T>A (p.Gly660=)
c.276+16056A>T (n.276+16056A>T)
c.*220+6488T>A (n.*220+6488T>A)
c.1104T>A (p.Gly368=)
c.1131T>A (p.Gly377=)
c.1986T>A (p.Gly662=)
c.1800T>A (p.Gly600=)
c.1719T>A (p.Gly573=)
c.1425T>A (p.Gly475=)
c.1806T>A (p.Gly602=)
2g.48687737C>ACA346742933GTF2A1L,LHCGR,STON1-GTF2A1Lc.2060G>T (p.Gly687Val)
c.*372G>T (n.*372G>T)
c.3441+16057C>A (n.3441+16057C>A)
c.*804G>T (n.*804G>T)
c.1979G>T (p.Gly660Val)
c.276+16057C>A (n.276+16057C>A)
c.*220+6487G>T (n.*220+6487G>T)
c.1103G>T (p.Gly368Val)
c.1130G>T (p.Gly377Val)
c.1985G>T (p.Gly662Val)
c.1799G>T (p.Gly600Val)
c.1718G>T (p.Gly573Val)
c.1424G>T (p.Gly475Val)
c.1805G>T (p.Gly602Val)
2g.48687737C>GCA346742935GTF2A1L,LHCGR,STON1-GTF2A1Lc.2060G>C (p.Gly687Ala)
c.*372G>C (n.*372G>C)
c.3441+16057C>G (n.3441+16057C>G)
c.*804G>C (n.*804G>C)
c.1979G>C (p.Gly660Ala)
c.276+16057C>G (n.276+16057C>G)
c.*220+6487G>C (n.*220+6487G>C)
c.1103G>C (p.Gly368Ala)
c.1130G>C (p.Gly377Ala)
c.1985G>C (p.Gly662Ala)
c.1799G>C (p.Gly600Ala)
c.1718G>C (p.Gly573Ala)
c.1424G>C (p.Gly475Ala)
c.1805G>C (p.Gly602Ala)
2g.48687737C>TCA346742937GTF2A1L,LHCGR,STON1-GTF2A1Lc.2060G>A (p.Gly687Asp)
c.*372G>A (n.*372G>A)
c.3441+16057C>T (n.3441+16057C>T)
c.*804G>A (n.*804G>A)
c.1979G>A (p.Gly660Asp)
c.276+16057C>T (n.276+16057C>T)
c.*220+6487G>A (n.*220+6487G>A)
c.1103G>A (p.Gly368Asp)
c.1130G>A (p.Gly377Asp)
c.1985G>A (p.Gly662Asp)
c.1799G>A (p.Gly600Asp)
c.1718G>A (p.Gly573Asp)
c.1424G>A (p.Gly475Asp)
c.1805G>A (p.Gly602Asp)
 gnomAD v4
2g.48687738C>ACA346742946GTF2A1L,LHCGR,STON1-GTF2A1Lc.2059G>T (p.Gly687Cys)
c.*371G>T (n.*371G>T)
c.3441+16058C>A (n.3441+16058C>A)
c.*803G>T (n.*803G>T)
c.1978G>T (p.Gly660Cys)
c.276+16058C>A (n.276+16058C>A)
c.*220+6486G>T (n.*220+6486G>T)
c.1102G>T (p.Gly368Cys)
c.1129G>T (p.Gly377Cys)
c.1984G>T (p.Gly662Cys)
c.1798G>T (p.Gly600Cys)
c.1717G>T (p.Gly573Cys)
c.1423G>T (p.Gly475Cys)
c.1804G>T (p.Gly602Cys)
2g.48687738C>GCA346742943GTF2A1L,LHCGR,STON1-GTF2A1Lc.2059G>C (p.Gly687Arg)
c.*371G>C (n.*371G>C)
c.3441+16058C>G (n.3441+16058C>G)
c.*803G>C (n.*803G>C)
c.1978G>C (p.Gly660Arg)
c.276+16058C>G (n.276+16058C>G)
c.*220+6486G>C (n.*220+6486G>C)
c.1102G>C (p.Gly368Arg)
c.1129G>C (p.Gly377Arg)
c.1984G>C (p.Gly662Arg)
c.1798G>C (p.Gly600Arg)
c.1717G>C (p.Gly573Arg)
c.1423G>C (p.Gly475Arg)
c.1804G>C (p.Gly602Arg)
2g.48687738C>TCA346742945GTF2A1L,LHCGR,STON1-GTF2A1Lc.2059G>A (p.Gly687Ser)
c.*371G>A (n.*371G>A)
c.3441+16058C>T (n.3441+16058C>T)
c.*803G>A (n.*803G>A)
c.1978G>A (p.Gly660Ser)
c.276+16058C>T (n.276+16058C>T)
c.*220+6486G>A (n.*220+6486G>A)
c.1102G>A (p.Gly368Ser)
c.1129G>A (p.Gly377Ser)
c.1984G>A (p.Gly662Ser)
c.1798G>A (p.Gly600Ser)
c.1717G>A (p.Gly573Ser)
c.1423G>A (p.Gly475Ser)
c.1804G>A (p.Gly602Ser)
2g.48687739T>ACA346742948GTF2A1L,LHCGR,STON1-GTF2A1Lc.2058A>T (p.Gln686His)
c.*370A>T (n.*370A>T)
c.3441+16059T>A (n.3441+16059T>A)
c.*802A>T (n.*802A>T)
c.1977A>T (p.Gln659His)
c.276+16059T>A (n.276+16059T>A)
c.*220+6485A>T (n.*220+6485A>T)
c.1101A>T (p.Gln367His)
c.1128A>T (p.Gln376His)
c.1983A>T (p.Gln661His)
c.1797A>T (p.Gln599His)
c.1716A>T (p.Gln572His)
c.1422A>T (p.Gln474His)
c.1803A>T (p.Gln601His)
2g.48687739T>CCA426124490GTF2A1L,LHCGR,STON1-GTF2A1Lc.2058A>G (p.Gln686=)
c.*370A>G (n.*370A>G)
c.3441+16059T>C (n.3441+16059T>C)
c.*802A>G (n.*802A>G)
c.1977A>G (p.Gln659=)
c.276+16059T>C (n.276+16059T>C)
c.*220+6485A>G (n.*220+6485A>G)
c.1101A>G (p.Gln367=)
c.1128A>G (p.Gln376=)
c.1983A>G (p.Gln661=)
c.1797A>G (p.Gln599=)
c.1716A>G (p.Gln572=)
c.1422A>G (p.Gln474=)
c.1803A>G (p.Gln601=)
2g.48687739T>GCA346742953GTF2A1L,LHCGR,STON1-GTF2A1Lc.2058A>C (p.Gln686His)
c.*370A>C (n.*370A>C)
c.3441+16059T>G (n.3441+16059T>G)
c.*802A>C (n.*802A>C)
c.1977A>C (p.Gln659His)
c.276+16059T>G (n.276+16059T>G)
c.*220+6485A>C (n.*220+6485A>C)
c.1101A>C (p.Gln367His)
c.1128A>C (p.Gln376His)
c.1983A>C (p.Gln661His)
c.1797A>C (p.Gln599His)
c.1716A>C (p.Gln572His)
c.1422A>C (p.Gln474His)
c.1803A>C (p.Gln601His)
2g.48687740T>ACA346742956GTF2A1L,LHCGR,STON1-GTF2A1Lc.2057A>T (p.Gln686Leu)
c.*369A>T (n.*369A>T)
c.3441+16060T>A (n.3441+16060T>A)
c.*801A>T (n.*801A>T)
c.1976A>T (p.Gln659Leu)
c.276+16060T>A (n.276+16060T>A)
c.*220+6484A>T (n.*220+6484A>T)
c.1100A>T (p.Gln367Leu)
c.1127A>T (p.Gln376Leu)
c.1982A>T (p.Gln661Leu)
c.1796A>T (p.Gln599Leu)
c.1715A>T (p.Gln572Leu)
c.1421A>T (p.Gln474Leu)
c.1802A>T (p.Gln601Leu)
2g.48687740T>CCA346742958GTF2A1L,LHCGR,STON1-GTF2A1Lc.2057A>G (p.Gln686Arg)
c.*369A>G (n.*369A>G)
c.3441+16060T>C (n.3441+16060T>C)
c.*801A>G (n.*801A>G)
c.1976A>G (p.Gln659Arg)
c.276+16060T>C (n.276+16060T>C)
c.*220+6484A>G (n.*220+6484A>G)
c.1100A>G (p.Gln367Arg)
c.1127A>G (p.Gln376Arg)
c.1982A>G (p.Gln661Arg)
c.1796A>G (p.Gln599Arg)
c.1715A>G (p.Gln572Arg)
c.1421A>G (p.Gln474Arg)
c.1802A>G (p.Gln601Arg)
2g.48687740T>GCA346742961GTF2A1L,LHCGR,STON1-GTF2A1Lc.2057A>C (p.Gln686Pro)
c.*369A>C (n.*369A>C)
c.3441+16060T>G (n.3441+16060T>G)
c.*801A>C (n.*801A>C)
c.1976A>C (p.Gln659Pro)
c.276+16060T>G (n.276+16060T>G)
c.*220+6484A>C (n.*220+6484A>C)
c.1100A>C (p.Gln367Pro)
c.1127A>C (p.Gln376Pro)
c.1982A>C (p.Gln661Pro)
c.1796A>C (p.Gln599Pro)
c.1715A>C (p.Gln572Pro)
c.1421A>C (p.Gln474Pro)
c.1802A>C (p.Gln601Pro)
2g.48687741G>ACA346742962GTF2A1L,LHCGR,STON1-GTF2A1Lc.2056C>T (p.Gln686Ter)
c.*368C>T (n.*368C>T)
c.3441+16061G>A (n.3441+16061G>A)
c.*800C>T (n.*800C>T)
c.1975C>T (p.Gln659Ter)
c.276+16061G>A (n.276+16061G>A)
c.*220+6483C>T (n.*220+6483C>T)
c.1099C>T (p.Gln367Ter)
c.1126C>T (p.Gln376Ter)
c.1981C>T (p.Gln661Ter)
c.1795C>T (p.Gln599Ter)
c.1714C>T (p.Gln572Ter)
c.1420C>T (p.Gln474Ter)
c.1801C>T (p.Gln601Ter)
 gnomAD v4
2g.48687741G>CCA346742964GTF2A1L,LHCGR,STON1-GTF2A1Lc.2056C>G (p.Gln686Glu)
c.*368C>G (n.*368C>G)
c.3441+16061G>C (n.3441+16061G>C)
c.*800C>G (n.*800C>G)
c.1975C>G (p.Gln659Glu)
c.276+16061G>C (n.276+16061G>C)
c.*220+6483C>G (n.*220+6483C>G)
c.1099C>G (p.Gln367Glu)
c.1126C>G (p.Gln376Glu)
c.1981C>G (p.Gln661Glu)
c.1795C>G (p.Gln599Glu)
c.1714C>G (p.Gln572Glu)
c.1420C>G (p.Gln474Glu)
c.1801C>G (p.Gln601Glu)
2g.48687741G>TCA346742966GTF2A1L,LHCGR,STON1-GTF2A1Lc.2056C>A (p.Gln686Lys)
c.*368C>A (n.*368C>A)
c.3441+16061G>T (n.3441+16061G>T)
c.*800C>A (n.*800C>A)
c.1975C>A (p.Gln659Lys)
c.276+16061G>T (n.276+16061G>T)
c.*220+6483C>A (n.*220+6483C>A)
c.1099C>A (p.Gln367Lys)
c.1126C>A (p.Gln376Lys)
c.1981C>A (p.Gln661Lys)
c.1795C>A (p.Gln599Lys)
c.1714C>A (p.Gln572Lys)
c.1420C>A (p.Gln474Lys)
c.1801C>A (p.Gln601Lys)
2g.48687742A>CCA346742970GTF2A1L,LHCGR,STON1-GTF2A1Lc.2055T>G (p.Cys685Trp)
c.*367T>G (n.*367T>G)
c.3441+16062A>C (n.3441+16062A>C)
c.*799T>G (n.*799T>G)
c.1974T>G (p.Cys658Trp)
c.276+16062A>C (n.276+16062A>C)
c.*220+6482T>G (n.*220+6482T>G)
c.1098T>G (p.Cys366Trp)
c.1125T>G (p.Cys375Trp)
c.1980T>G (p.Cys660Trp)
c.1794T>G (p.Cys598Trp)
c.1713T>G (p.Cys571Trp)
c.1419T>G (p.Cys473Trp)
c.1800T>G (p.Cys600Trp)
2g.48687742A>GCA426124492GTF2A1L,LHCGR,STON1-GTF2A1Lc.2055T>C (p.Cys685=)
c.*367T>C (n.*367T>C)
c.3441+16062A>G (n.3441+16062A>G)
c.*799T>C (n.*799T>C)
c.1974T>C (p.Cys658=)
c.276+16062A>G (n.276+16062A>G)
c.*220+6482T>C (n.*220+6482T>C)
c.1098T>C (p.Cys366=)
c.1125T>C (p.Cys375=)
c.1980T>C (p.Cys660=)
c.1794T>C (p.Cys598=)
c.1713T>C (p.Cys571=)
c.1419T>C (p.Cys473=)
c.1800T>C (p.Cys600=)
 gnomAD v4
2g.48687742A>TCA346742971GTF2A1L,LHCGR,STON1-GTF2A1Lc.2055T>A (p.Cys685Ter)
c.*367T>A (n.*367T>A)
c.3441+16062A>T (n.3441+16062A>T)
c.*799T>A (n.*799T>A)
c.1974T>A (p.Cys658Ter)
c.276+16062A>T (n.276+16062A>T)
c.*220+6482T>A (n.*220+6482T>A)
c.1098T>A (p.Cys366Ter)
c.1125T>A (p.Cys375Ter)
c.1980T>A (p.Cys660Ter)
c.1794T>A (p.Cys598Ter)
c.1713T>A (p.Cys571Ter)
c.1419T>A (p.Cys473Ter)
c.1800T>A (p.Cys600Ter)
2g.48687743C>ACA346742978GTF2A1L,LHCGR,STON1-GTF2A1Lc.2054G>T (p.Cys685Phe)
c.*366G>T (n.*366G>T)
c.3441+16063C>A (n.3441+16063C>A)
c.*798G>T (n.*798G>T)
c.1973G>T (p.Cys658Phe)
c.276+16063C>A (n.276+16063C>A)
c.*220+6481G>T (n.*220+6481G>T)
c.1097G>T (p.Cys366Phe)
c.1124G>T (p.Cys375Phe)
c.1979G>T (p.Cys660Phe)
c.1793G>T (p.Cys598Phe)
c.1712G>T (p.Cys571Phe)
c.1418G>T (p.Cys473Phe)
c.1799G>T (p.Cys600Phe)
2g.48687743C>GCA346742976GTF2A1L,LHCGR,STON1-GTF2A1Lc.2054G>C (p.Cys685Ser)
c.*366G>C (n.*366G>C)
c.3441+16063C>G (n.3441+16063C>G)
c.*798G>C (n.*798G>C)
c.1973G>C (p.Cys658Ser)
c.276+16063C>G (n.276+16063C>G)
c.*220+6481G>C (n.*220+6481G>C)
c.1097G>C (p.Cys366Ser)
c.1124G>C (p.Cys375Ser)
c.1979G>C (p.Cys660Ser)
c.1793G>C (p.Cys598Ser)
c.1712G>C (p.Cys571Ser)
c.1418G>C (p.Cys473Ser)
c.1799G>C (p.Cys600Ser)
 gnomAD v4
2g.48687743C>TCA346742973GTF2A1L,LHCGR,STON1-GTF2A1Lc.2054G>A (p.Cys685Tyr)
c.*366G>A (n.*366G>A)
c.3441+16063C>T (n.3441+16063C>T)
c.*798G>A (n.*798G>A)
c.1973G>A (p.Cys658Tyr)
c.276+16063C>T (n.276+16063C>T)
c.*220+6481G>A (n.*220+6481G>A)
c.1097G>A (p.Cys366Tyr)
c.1124G>A (p.Cys375Tyr)
c.1979G>A (p.Cys660Tyr)
c.1793G>A (p.Cys598Tyr)
c.1712G>A (p.Cys571Tyr)
c.1418G>A (p.Cys473Tyr)
c.1799G>A (p.Cys600Tyr)
2g.48687744A=CA1248600818GTF2A1L,LHCGR,STON1-GTF2A1Lc.2053T= (p.Cys685=)
c.*365T= (n.*365T=)
c.3441+16064A= (n.3441+16064A=)
c.*797T= (n.*797T=)
c.1972T= (p.Cys658=)
c.276+16064A= (n.276+16064A=)
c.*220+6480T= (n.*220+6480T=)
c.1096T= (p.Cys366=)
c.1123T= (p.Cys375=)
c.1978T= (p.Cys660=)
c.1792T= (p.Cys598=)
c.1711T= (p.Cys571=)
c.1417T= (p.Cys473=)
c.1798T= (p.Cys600=)
2g.48687744A>CCA346742981GTF2A1L,LHCGR,STON1-GTF2A1Lc.2053T>G (p.Cys685Gly)
c.*365T>G (n.*365T>G)
c.3441+16064A>C (n.3441+16064A>C)
c.*797T>G (n.*797T>G)
c.1972T>G (p.Cys658Gly)
c.276+16064A>C (n.276+16064A>C)
c.*220+6480T>G (n.*220+6480T>G)
c.1096T>G (p.Cys366Gly)
c.1123T>G (p.Cys375Gly)
c.1978T>G (p.Cys660Gly)
c.1792T>G (p.Cys598Gly)
c.1711T>G (p.Cys571Gly)
c.1417T>G (p.Cys473Gly)
c.1798T>G (p.Cys600Gly)
2g.48687744A>GCA1652939GTF2A1L,LHCGR,STON1-GTF2A1Lc.2053T>C (p.Cys685Arg)
c.*365T>C (n.*365T>C)
c.3441+16064A>G (n.3441+16064A>G)
c.*797T>C (n.*797T>C)
c.1972T>C (p.Cys658Arg)
c.276+16064A>G (n.276+16064A>G)
c.*220+6480T>C (n.*220+6480T>C)
c.1096T>C (p.Cys366Arg)
c.1123T>C (p.Cys375Arg)
c.1978T>C (p.Cys660Arg)
c.1792T>C (p.Cys598Arg)
c.1711T>C (p.Cys571Arg)
c.1417T>C (p.Cys473Arg)
c.1798T>C (p.Cys600Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48687744A>TCA346742984GTF2A1L,LHCGR,STON1-GTF2A1Lc.2053T>A (p.Cys685Ser)
c.*365T>A (n.*365T>A)
c.3441+16064A>T (n.3441+16064A>T)
c.*797T>A (n.*797T>A)
c.1972T>A (p.Cys658Ser)
c.276+16064A>T (n.276+16064A>T)
c.*220+6480T>A (n.*220+6480T>A)
c.1096T>A (p.Cys366Ser)
c.1123T>A (p.Cys375Ser)
c.1978T>A (p.Cys660Ser)
c.1792T>A (p.Cys598Ser)
c.1711T>A (p.Cys571Ser)
c.1417T>A (p.Cys473Ser)
c.1798T>A (p.Cys600Ser)
2g.48687745G>ACA426124494GTF2A1L,LHCGR,STON1-GTF2A1Lc.2052C>T (p.His684=)
c.*364C>T (n.*364C>T)
c.3441+16065G>A (n.3441+16065G>A)
c.*796C>T (n.*796C>T)
c.1971C>T (p.His657=)
c.276+16065G>A (n.276+16065G>A)
c.*220+6479C>T (n.*220+6479C>T)
c.1095C>T (p.His365=)
c.1122C>T (p.His374=)
c.1977C>T (p.His659=)
c.1791C>T (p.His597=)
c.1710C>T (p.His570=)
c.1416C>T (p.His472=)
c.1797C>T (p.His599=)
 gnomAD v4
2g.48687745G>CCA346742987GTF2A1L,LHCGR,STON1-GTF2A1Lc.2052C>G (p.His684Gln)
c.*364C>G (n.*364C>G)
c.3441+16065G>C (n.3441+16065G>C)
c.*796C>G (n.*796C>G)
c.1971C>G (p.His657Gln)
c.276+16065G>C (n.276+16065G>C)
c.*220+6479C>G (n.*220+6479C>G)
c.1095C>G (p.His365Gln)
c.1122C>G (p.His374Gln)
c.1977C>G (p.His659Gln)
c.1791C>G (p.His597Gln)
c.1710C>G (p.His570Gln)
c.1416C>G (p.His472Gln)
c.1797C>G (p.His599Gln)
2g.48687745G>TCA346742994GTF2A1L,LHCGR,STON1-GTF2A1Lc.2052C>A (p.His684Gln)
c.*364C>A (n.*364C>A)
c.3441+16065G>T (n.3441+16065G>T)
c.*796C>A (n.*796C>A)
c.1971C>A (p.His657Gln)
c.276+16065G>T (n.276+16065G>T)
c.*220+6479C>A (n.*220+6479C>A)
c.1095C>A (p.His365Gln)
c.1122C>A (p.His374Gln)
c.1977C>A (p.His659Gln)
c.1791C>A (p.His597Gln)
c.1710C>A (p.His570Gln)
c.1416C>A (p.His472Gln)
c.1797C>A (p.His599Gln)
2g.48687746T>ACA346742996GTF2A1L,LHCGR,STON1-GTF2A1Lc.2051A>T (p.His684Leu)
c.*363A>T (n.*363A>T)
c.3441+16066T>A (n.3441+16066T>A)
c.*795A>T (n.*795A>T)
c.1970A>T (p.His657Leu)
c.276+16066T>A (n.276+16066T>A)
c.*220+6478A>T (n.*220+6478A>T)
c.1094A>T (p.His365Leu)
c.1121A>T (p.His374Leu)
c.1976A>T (p.His659Leu)
c.1790A>T (p.His597Leu)
c.1709A>T (p.His570Leu)
c.1415A>T (p.His472Leu)
c.1796A>T (p.His599Leu)
 gnomAD v4
2g.48687746T>CCA346742997GTF2A1L,LHCGR,STON1-GTF2A1Lc.2051A>G (p.His684Arg)
c.*363A>G (n.*363A>G)
c.3441+16066T>C (n.3441+16066T>C)
c.*795A>G (n.*795A>G)
c.1970A>G (p.His657Arg)
c.276+16066T>C (n.276+16066T>C)
c.*220+6478A>G (n.*220+6478A>G)
c.1094A>G (p.His365Arg)
c.1121A>G (p.His374Arg)
c.1976A>G (p.His659Arg)
c.1790A>G (p.His597Arg)
c.1709A>G (p.His570Arg)
c.1415A>G (p.His472Arg)
c.1796A>G (p.His599Arg)
 dbSNP gnomAD v2 gnomAD v4
2g.48687746T>GCA46752432GTF2A1L,LHCGR,STON1-GTF2A1Lc.2051A>C (p.His684Pro)
c.*363A>C (n.*363A>C)
c.3441+16066T>G (n.3441+16066T>G)
c.*795A>C (n.*795A>C)
c.1970A>C (p.His657Pro)
c.276+16066T>G (n.276+16066T>G)
c.*220+6478A>C (n.*220+6478A>C)
c.1094A>C (p.His365Pro)
c.1121A>C (p.His374Pro)
c.1976A>C (p.His659Pro)
c.1790A>C (p.His597Pro)
c.1709A>C (p.His570Pro)
c.1415A>C (p.His472Pro)
c.1796A>C (p.His599Pro)
 dbSNP gnomAD v3 gnomAD v4
2g.48687746T=CA1248600819GTF2A1L,LHCGR,STON1-GTF2A1Lc.2051A= (p.His684=)
c.*363A= (n.*363A=)
c.3441+16066T= (n.3441+16066T=)
c.*795A= (n.*795A=)
c.1970A= (p.His657=)
c.276+16066T= (n.276+16066T=)
c.*220+6478A= (n.*220+6478A=)
c.1094A= (p.His365=)
c.1121A= (p.His374=)
c.1976A= (p.His659=)
c.1790A= (p.His597=)
c.1709A= (p.His570=)
c.1415A= (p.His472=)
c.1796A= (p.His599=)
2g.48687747G>ACA346742998GTF2A1L,LHCGR,STON1-GTF2A1Lc.2050C>T (p.His684Tyr)
c.*362C>T (n.*362C>T)
c.3441+16067G>A (n.3441+16067G>A)
c.*794C>T (n.*794C>T)
c.1969C>T (p.His657Tyr)
c.276+16067G>A (n.276+16067G>A)
c.*220+6477C>T (n.*220+6477C>T)
c.1093C>T (p.His365Tyr)
c.1120C>T (p.His374Tyr)
c.1975C>T (p.His659Tyr)
c.1789C>T (p.His597Tyr)
c.1708C>T (p.His570Tyr)
c.1414C>T (p.His472Tyr)
c.1795C>T (p.His599Tyr)
 gnomAD v4
2g.48687747G>CCA346742999GTF2A1L,LHCGR,STON1-GTF2A1Lc.2050C>G (p.His684Asp)
c.*362C>G (n.*362C>G)
c.3441+16067G>C (n.3441+16067G>C)
c.*794C>G (n.*794C>G)
c.1969C>G (p.His657Asp)
c.276+16067G>C (n.276+16067G>C)
c.*220+6477C>G (n.*220+6477C>G)
c.1093C>G (p.His365Asp)
c.1120C>G (p.His374Asp)
c.1975C>G (p.His659Asp)
c.1789C>G (p.His597Asp)
c.1708C>G (p.His570Asp)
c.1414C>G (p.His472Asp)
c.1795C>G (p.His599Asp)
 gnomAD v4
2g.48687747G=CA1248600820GTF2A1L,LHCGR,STON1-GTF2A1Lc.2050C= (p.His684=)
c.*362C= (n.*362C=)
c.3441+16067G= (n.3441+16067G=)
c.*794C= (n.*794C=)
c.1969C= (p.His657=)
c.276+16067G= (n.276+16067G=)
c.*220+6477C= (n.*220+6477C=)
c.1093C= (p.His365=)
c.1120C= (p.His374=)
c.1975C= (p.His659=)
c.1789C= (p.His597=)
c.1708C= (p.His570=)
c.1414C= (p.His472=)
c.1795C= (p.His599=)
2g.48687747G>TCA1652940GTF2A1L,LHCGR,STON1-GTF2A1Lc.2050C>A (p.His684Asn)
c.*362C>A (n.*362C>A)
c.3441+16067G>T (n.3441+16067G>T)
c.*794C>A (n.*794C>A)
c.1969C>A (p.His657Asn)
c.276+16067G>T (n.276+16067G>T)
c.*220+6477C>A (n.*220+6477C>A)
c.1093C>A (p.His365Asn)
c.1120C>A (p.His374Asn)
c.1975C>A (p.His659Asn)
c.1789C>A (p.His597Asn)
c.1708C>A (p.His570Asn)
c.1414C>A (p.His472Asn)
c.1795C>A (p.His599Asn)
 dbSNP ExAC gnomAD v2 COSMIC
2g.48687748C>ACA346743005GTF2A1L,LHCGR,STON1-GTF2A1Lc.2049G>T (p.Leu683Phe)
c.*361G>T (n.*361G>T)
c.3441+16068C>A (n.3441+16068C>A)
c.*793G>T (n.*793G>T)
c.1968G>T (p.Leu656Phe)
c.276+16068C>A (n.276+16068C>A)
c.*220+6476G>T (n.*220+6476G>T)
c.1092G>T (p.Leu364Phe)
c.1119G>T (p.Leu373Phe)
c.1974G>T (p.Leu658Phe)
c.1788G>T (p.Leu596Phe)
c.1707G>T (p.Leu569Phe)
c.1413G>T (p.Leu471Phe)
c.1794G>T (p.Leu598Phe)
2g.48687748C=CA1248600821GTF2A1L,LHCGR,STON1-GTF2A1Lc.2049G= (p.Leu683=)
c.*361G= (n.*361G=)
c.3441+16068C= (n.3441+16068C=)
c.*793G= (n.*793G=)
c.1968G= (p.Leu656=)
c.276+16068C= (n.276+16068C=)
c.*220+6476G= (n.*220+6476G=)
c.1092G= (p.Leu364=)
c.1119G= (p.Leu373=)
c.1974G= (p.Leu658=)
c.1788G= (p.Leu596=)
c.1707G= (p.Leu569=)
c.1413G= (p.Leu471=)
c.1794G= (p.Leu598=)
2g.48687748C>GCA346743008GTF2A1L,LHCGR,STON1-GTF2A1Lc.2049G>C (p.Leu683Phe)
c.*361G>C (n.*361G>C)
c.3441+16068C>G (n.3441+16068C>G)
c.*793G>C (n.*793G>C)
c.1968G>C (p.Leu656Phe)
c.276+16068C>G (n.276+16068C>G)
c.*220+6476G>C (n.*220+6476G>C)
c.1092G>C (p.Leu364Phe)
c.1119G>C (p.Leu373Phe)
c.1974G>C (p.Leu658Phe)
c.1788G>C (p.Leu596Phe)
c.1707G>C (p.Leu569Phe)
c.1413G>C (p.Leu471Phe)
c.1794G>C (p.Leu598Phe)
2g.48687748C>TCA426124935GTF2A1L,LHCGR,STON1-GTF2A1Lc.2049G>A (p.Leu683=)
c.*361G>A (n.*361G>A)
c.3441+16068C>T (n.3441+16068C>T)
c.*793G>A (n.*793G>A)
c.1968G>A (p.Leu656=)
c.276+16068C>T (n.276+16068C>T)
c.*220+6476G>A (n.*220+6476G>A)
c.1092G>A (p.Leu364=)
c.1119G>A (p.Leu373=)
c.1974G>A (p.Leu658=)
c.1788G>A (p.Leu596=)
c.1707G>A (p.Leu569=)
c.1413G>A (p.Leu471=)
c.1794G>A (p.Leu598=)
 dbSNP
2g.48687749A=CA1248600822GTF2A1L,LHCGR,STON1-GTF2A1Lc.2048T= (p.Leu683=)
c.*360T= (n.*360T=)
c.3441+16069A= (n.3441+16069A=)
c.*792T= (n.*792T=)
c.1967T= (p.Leu656=)
c.276+16069A= (n.276+16069A=)
c.*220+6475T= (n.*220+6475T=)
c.1091T= (p.Leu364=)
c.1118T= (p.Leu373=)
c.1973T= (p.Leu658=)
c.1787T= (p.Leu596=)
c.1706T= (p.Leu569=)
c.1412T= (p.Leu471=)
c.1793T= (p.Leu598=)
2g.48687749A>CCA346743023GTF2A1L,LHCGR,STON1-GTF2A1Lc.2048T>G (p.Leu683Trp)
c.*360T>G (n.*360T>G)
c.3441+16069A>C (n.3441+16069A>C)
c.*792T>G (n.*792T>G)
c.1967T>G (p.Leu656Trp)
c.276+16069A>C (n.276+16069A>C)
c.*220+6475T>G (n.*220+6475T>G)
c.1091T>G (p.Leu364Trp)
c.1118T>G (p.Leu373Trp)
c.1973T>G (p.Leu658Trp)
c.1787T>G (p.Leu596Trp)
c.1706T>G (p.Leu569Trp)
c.1412T>G (p.Leu471Trp)
c.1793T>G (p.Leu598Trp)
 dbSNP
2g.48687749A>GCA346743014GTF2A1L,LHCGR,STON1-GTF2A1Lc.2048T>C (p.Leu683Ser)
c.*360T>C (n.*360T>C)
c.3441+16069A>G (n.3441+16069A>G)
c.*792T>C (n.*792T>C)
c.1967T>C (p.Leu656Ser)
c.276+16069A>G (n.276+16069A>G)
c.*220+6475T>C (n.*220+6475T>C)
c.1091T>C (p.Leu364Ser)
c.1118T>C (p.Leu373Ser)
c.1973T>C (p.Leu658Ser)
c.1787T>C (p.Leu596Ser)
c.1706T>C (p.Leu569Ser)
c.1412T>C (p.Leu471Ser)
c.1793T>C (p.Leu598Ser)
2g.48687749A>TCA346743017GTF2A1L,LHCGR,STON1-GTF2A1Lc.2048T>A (p.Leu683Ter)
c.*360T>A (n.*360T>A)
c.3441+16069A>T (n.3441+16069A>T)
c.*792T>A (n.*792T>A)
c.1967T>A (p.Leu656Ter)
c.276+16069A>T (n.276+16069A>T)
c.*220+6475T>A (n.*220+6475T>A)
c.1091T>A (p.Leu364Ter)
c.1118T>A (p.Leu373Ter)
c.1973T>A (p.Leu658Ter)
c.1787T>A (p.Leu596Ter)
c.1706T>A (p.Leu569Ter)
c.1412T>A (p.Leu471Ter)
c.1793T>A (p.Leu598Ter)
 dbSNP gnomAD v2 gnomAD v4
2g.48687750A>CCA346743025GTF2A1L,LHCGR,STON1-GTF2A1Lc.2047T>G (p.Leu683Val)
c.*359T>G (n.*359T>G)
c.3441+16070A>C (n.3441+16070A>C)
c.*791T>G (n.*791T>G)
c.1966T>G (p.Leu656Val)
c.276+16070A>C (n.276+16070A>C)
c.*220+6474T>G (n.*220+6474T>G)
c.1090T>G (p.Leu364Val)
c.1117T>G (p.Leu373Val)
c.1972T>G (p.Leu658Val)
c.1786T>G (p.Leu596Val)
c.1705T>G (p.Leu569Val)
c.1411T>G (p.Leu471Val)
c.1792T>G (p.Leu598Val)
2g.48687750A>GCA426124940GTF2A1L,LHCGR,STON1-GTF2A1Lc.2047T>C (p.Leu683=)
c.*359T>C (n.*359T>C)
c.3441+16070A>G (n.3441+16070A>G)
c.*791T>C (n.*791T>C)
c.1966T>C (p.Leu656=)
c.276+16070A>G (n.276+16070A>G)
c.*220+6474T>C (n.*220+6474T>C)
c.1090T>C (p.Leu364=)
c.1117T>C (p.Leu373=)
c.1972T>C (p.Leu658=)
c.1786T>C (p.Leu596=)
c.1705T>C (p.Leu569=)
c.1411T>C (p.Leu471=)
c.1792T>C (p.Leu598=)
2g.48687750A>TCA346743027GTF2A1L,LHCGR,STON1-GTF2A1Lc.2047T>A (p.Leu683Met)
c.*359T>A (n.*359T>A)
c.3441+16070A>T (n.3441+16070A>T)
c.*791T>A (n.*791T>A)
c.1966T>A (p.Leu656Met)
c.276+16070A>T (n.276+16070A>T)
c.*220+6474T>A (n.*220+6474T>A)
c.1090T>A (p.Leu364Met)
c.1117T>A (p.Leu373Met)
c.1972T>A (p.Leu658Met)
c.1786T>A (p.Leu596Met)
c.1705T>A (p.Leu569Met)
c.1411T>A (p.Leu471Met)
c.1792T>A (p.Leu598Met)
2g.48687751T>ACA426124942GTF2A1L,LHCGR,STON1-GTF2A1Lc.2046A>T (p.Thr682=)
c.*358A>T (n.*358A>T)
c.3441+16071T>A (n.3441+16071T>A)
c.*790A>T (n.*790A>T)
c.1965A>T (p.Thr655=)
c.276+16071T>A (n.276+16071T>A)
c.*220+6473A>T (n.*220+6473A>T)
c.1089A>T (p.Thr363=)
c.1116A>T (p.Thr372=)
c.1971A>T (p.Thr657=)
c.1785A>T (p.Thr595=)
c.1704A>T (p.Thr568=)
c.1410A>T (p.Thr470=)
c.1791A>T (p.Thr597=)
 gnomAD v4
2g.48687751T>CCA426124944GTF2A1L,LHCGR,STON1-GTF2A1Lc.2046A>G (p.Thr682=)
c.*358A>G (n.*358A>G)
c.3441+16071T>C (n.3441+16071T>C)
c.*790A>G (n.*790A>G)
c.1965A>G (p.Thr655=)
c.276+16071T>C (n.276+16071T>C)
c.*220+6473A>G (n.*220+6473A>G)
c.1089A>G (p.Thr363=)
c.1116A>G (p.Thr372=)
c.1971A>G (p.Thr657=)
c.1785A>G (p.Thr595=)
c.1704A>G (p.Thr568=)
c.1410A>G (p.Thr470=)
c.1791A>G (p.Thr597=)
 gnomAD v4
2g.48687751T>GCA1652941GTF2A1L,LHCGR,STON1-GTF2A1Lc.2046A>C (p.Thr682=)
c.*358A>C (n.*358A>C)
c.3441+16071T>G (n.3441+16071T>G)
c.*790A>C (n.*790A>C)
c.1965A>C (p.Thr655=)
c.276+16071T>G (n.276+16071T>G)
c.*220+6473A>C (n.*220+6473A>C)
c.1089A>C (p.Thr363=)
c.1116A>C (p.Thr372=)
c.1971A>C (p.Thr657=)
c.1785A>C (p.Thr595=)
c.1704A>C (p.Thr568=)
c.1410A>C (p.Thr470=)
c.1791A>C (p.Thr597=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48687751T=CA1248600823GTF2A1L,LHCGR,STON1-GTF2A1Lc.2046A= (p.Thr682=)
c.*358A= (n.*358A=)
c.3441+16071T= (n.3441+16071T=)
c.*790A= (n.*790A=)
c.1965A= (p.Thr655=)
c.276+16071T= (n.276+16071T=)
c.*220+6473A= (n.*220+6473A=)
c.1089A= (p.Thr363=)
c.1116A= (p.Thr372=)
c.1971A= (p.Thr657=)
c.1785A= (p.Thr595=)
c.1704A= (p.Thr568=)
c.1410A= (p.Thr470=)
c.1791A= (p.Thr597=)
2g.48687752G>ACA346743030GTF2A1L,LHCGR,STON1-GTF2A1Lc.2045C>T (p.Thr682Ile)
c.*357C>T (n.*357C>T)
c.3441+16072G>A (n.3441+16072G>A)
c.*789C>T (n.*789C>T)
c.1964C>T (p.Thr655Ile)
c.276+16072G>A (n.276+16072G>A)
c.*220+6472C>T (n.*220+6472C>T)
c.1088C>T (p.Thr363Ile)
c.1115C>T (p.Thr372Ile)
c.1970C>T (p.Thr657Ile)
c.1784C>T (p.Thr595Ile)
c.1703C>T (p.Thr568Ile)
c.1409C>T (p.Thr470Ile)
c.1790C>T (p.Thr597Ile)
 gnomAD v4
2g.48687752G>CCA346743036GTF2A1L,LHCGR,STON1-GTF2A1Lc.2045C>G (p.Thr682Arg)
c.*357C>G (n.*357C>G)
c.3441+16072G>C (n.3441+16072G>C)
c.*789C>G (n.*789C>G)
c.1964C>G (p.Thr655Arg)
c.276+16072G>C (n.276+16072G>C)
c.*220+6472C>G (n.*220+6472C>G)
c.1088C>G (p.Thr363Arg)
c.1115C>G (p.Thr372Arg)
c.1970C>G (p.Thr657Arg)
c.1784C>G (p.Thr595Arg)
c.1703C>G (p.Thr568Arg)
c.1409C>G (p.Thr470Arg)
c.1790C>G (p.Thr597Arg)
 gnomAD v4
2g.48687752G>TCA346743037GTF2A1L,LHCGR,STON1-GTF2A1Lc.2045C>A (p.Thr682Lys)
c.*357C>A (n.*357C>A)
c.3441+16072G>T (n.3441+16072G>T)
c.*789C>A (n.*789C>A)
c.1964C>A (p.Thr655Lys)
c.276+16072G>T (n.276+16072G>T)
c.*220+6472C>A (n.*220+6472C>A)
c.1088C>A (p.Thr363Lys)
c.1115C>A (p.Thr372Lys)
c.1970C>A (p.Thr657Lys)
c.1784C>A (p.Thr595Lys)
c.1703C>A (p.Thr568Lys)
c.1409C>A (p.Thr470Lys)
c.1790C>A (p.Thr597Lys)
2g.48687753T>ACA346743038GTF2A1L,LHCGR,STON1-GTF2A1Lc.2044A>T (p.Thr682Ser)
c.*356A>T (n.*356A>T)
c.3441+16073T>A (n.3441+16073T>A)
c.*788A>T (n.*788A>T)
c.1963A>T (p.Thr655Ser)
c.276+16073T>A (n.276+16073T>A)
c.*220+6471A>T (n.*220+6471A>T)
c.1087A>T (p.Thr363Ser)
c.1114A>T (p.Thr372Ser)
c.1969A>T (p.Thr657Ser)
c.1783A>T (p.Thr595Ser)
c.1702A>T (p.Thr568Ser)
c.1408A>T (p.Thr470Ser)
c.1789A>T (p.Thr597Ser)
2g.48687753T>CCA346743040GTF2A1L,LHCGR,STON1-GTF2A1Lc.2044A>G (p.Thr682Ala)
c.*356A>G (n.*356A>G)
c.3441+16073T>C (n.3441+16073T>C)
c.*788A>G (n.*788A>G)
c.1963A>G (p.Thr655Ala)
c.276+16073T>C (n.276+16073T>C)
c.*220+6471A>G (n.*220+6471A>G)
c.1087A>G (p.Thr363Ala)
c.1114A>G (p.Thr372Ala)
c.1969A>G (p.Thr657Ala)
c.1783A>G (p.Thr595Ala)
c.1702A>G (p.Thr568Ala)
c.1408A>G (p.Thr470Ala)
c.1789A>G (p.Thr597Ala)
2g.48687753T>GCA346743041GTF2A1L,LHCGR,STON1-GTF2A1Lc.2044A>C (p.Thr682Pro)
c.*356A>C (n.*356A>C)
c.3441+16073T>G (n.3441+16073T>G)
c.*788A>C (n.*788A>C)
c.1963A>C (p.Thr655Pro)
c.276+16073T>G (n.276+16073T>G)
c.*220+6471A>C (n.*220+6471A>C)
c.1087A>C (p.Thr363Pro)
c.1114A>C (p.Thr372Pro)
c.1969A>C (p.Thr657Pro)
c.1783A>C (p.Thr595Pro)
c.1702A>C (p.Thr568Pro)
c.1408A>C (p.Thr470Pro)
c.1789A>C (p.Thr597Pro)
2g.48687754G>ACA46752442GTF2A1L,LHCGR,STON1-GTF2A1Lc.2043C>T (p.Ser681=)
c.*355C>T (n.*355C>T)
c.3441+16074G>A (n.3441+16074G>A)
c.*787C>T (n.*787C>T)
c.1962C>T (p.Ser654=)
c.276+16074G>A (n.276+16074G>A)
c.*220+6470C>T (n.*220+6470C>T)
c.1086C>T (p.Ser362=)
c.1113C>T (p.Ser371=)
c.1968C>T (p.Ser656=)
c.1782C>T (p.Ser594=)
c.1701C>T (p.Ser567=)
c.1407C>T (p.Ser469=)
c.1788C>T (p.Ser596=)
 dbSNP
2g.48687754G>CCA426124949GTF2A1L,LHCGR,STON1-GTF2A1Lc.2043C>G (p.Ser681=)
c.*355C>G (n.*355C>G)
c.3441+16074G>C (n.3441+16074G>C)
c.*787C>G (n.*787C>G)
c.1962C>G (p.Ser654=)
c.276+16074G>C (n.276+16074G>C)
c.*220+6470C>G (n.*220+6470C>G)
c.1086C>G (p.Ser362=)
c.1113C>G (p.Ser371=)
c.1968C>G (p.Ser656=)
c.1782C>G (p.Ser594=)
c.1701C>G (p.Ser567=)
c.1407C>G (p.Ser469=)
c.1788C>G (p.Ser596=)
2g.48687754G=CA1248600824GTF2A1L,LHCGR,STON1-GTF2A1Lc.2043C= (p.Ser681=)
c.*355C= (n.*355C=)
c.3441+16074G= (n.3441+16074G=)
c.*787C= (n.*787C=)
c.1962C= (p.Ser654=)
c.276+16074G= (n.276+16074G=)
c.*220+6470C= (n.*220+6470C=)
c.1086C= (p.Ser362=)
c.1113C= (p.Ser371=)
c.1968C= (p.Ser656=)
c.1782C= (p.Ser594=)
c.1701C= (p.Ser567=)
c.1407C= (p.Ser469=)
c.1788C= (p.Ser596=)
2g.48687754G>TCA426124950GTF2A1L,LHCGR,STON1-GTF2A1Lc.2043C>A (p.Ser681=)
c.*355C>A (n.*355C>A)
c.3441+16074G>T (n.3441+16074G>T)
c.*787C>A (n.*787C>A)
c.1962C>A (p.Ser654=)
c.276+16074G>T (n.276+16074G>T)
c.*220+6470C>A (n.*220+6470C>A)
c.1086C>A (p.Ser362=)
c.1113C>A (p.Ser371=)
c.1968C>A (p.Ser656=)
c.1782C>A (p.Ser594=)
c.1701C>A (p.Ser567=)
c.1407C>A (p.Ser469=)
c.1788C>A (p.Ser596=)
2g.48687755G>ACA346743044GTF2A1L,LHCGR,STON1-GTF2A1Lc.2042C>T (p.Ser681Phe)
c.*354C>T (n.*354C>T)
c.3441+16075G>A (n.3441+16075G>A)
c.*786C>T (n.*786C>T)
c.1961C>T (p.Ser654Phe)
c.276+16075G>A (n.276+16075G>A)
c.*220+6469C>T (n.*220+6469C>T)
c.1085C>T (p.Ser362Phe)
c.1112C>T (p.Ser371Phe)
c.1967C>T (p.Ser656Phe)
c.1781C>T (p.Ser594Phe)
c.1700C>T (p.Ser567Phe)
c.1406C>T (p.Ser469Phe)
c.1787C>T (p.Ser596Phe)
 gnomAD v4
2g.48687755G>CCA346743045GTF2A1L,LHCGR,STON1-GTF2A1Lc.2042C>G (p.Ser681Cys)
c.*354C>G (n.*354C>G)
c.3441+16075G>C (n.3441+16075G>C)
c.*786C>G (n.*786C>G)
c.1961C>G (p.Ser654Cys)
c.276+16075G>C (n.276+16075G>C)
c.*220+6469C>G (n.*220+6469C>G)
c.1085C>G (p.Ser362Cys)
c.1112C>G (p.Ser371Cys)
c.1967C>G (p.Ser656Cys)
c.1781C>G (p.Ser594Cys)
c.1700C>G (p.Ser567Cys)
c.1406C>G (p.Ser469Cys)
c.1787C>G (p.Ser596Cys)
 gnomAD v4
2g.48687755G>TCA346743047GTF2A1L,LHCGR,STON1-GTF2A1Lc.2042C>A (p.Ser681Tyr)
c.*354C>A (n.*354C>A)
c.3441+16075G>T (n.3441+16075G>T)
c.*786C>A (n.*786C>A)
c.1961C>A (p.Ser654Tyr)
c.276+16075G>T (n.276+16075G>T)
c.*220+6469C>A (n.*220+6469C>A)
c.1085C>A (p.Ser362Tyr)
c.1112C>A (p.Ser371Tyr)
c.1967C>A (p.Ser656Tyr)
c.1781C>A (p.Ser594Tyr)
c.1700C>A (p.Ser567Tyr)
c.1406C>A (p.Ser469Tyr)
c.1787C>A (p.Ser596Tyr)
2g.48687756A>CCA346743052GTF2A1L,LHCGR,STON1-GTF2A1Lc.2041T>G (p.Ser681Ala)
c.*353T>G (n.*353T>G)
c.3441+16076A>C (n.3441+16076A>C)
c.*785T>G (n.*785T>G)
c.1960T>G (p.Ser654Ala)
c.276+16076A>C (n.276+16076A>C)
c.*220+6468T>G (n.*220+6468T>G)
c.1084T>G (p.Ser362Ala)
c.1111T>G (p.Ser371Ala)
c.1966T>G (p.Ser656Ala)
c.1780T>G (p.Ser594Ala)
c.1699T>G (p.Ser567Ala)
c.1405T>G (p.Ser469Ala)
c.1786T>G (p.Ser596Ala)
2g.48687756A>GCA346743055GTF2A1L,LHCGR,STON1-GTF2A1Lc.2041T>C (p.Ser681Pro)
c.*353T>C (n.*353T>C)
c.3441+16076A>G (n.3441+16076A>G)
c.*785T>C (n.*785T>C)
c.1960T>C (p.Ser654Pro)
c.276+16076A>G (n.276+16076A>G)
c.*220+6468T>C (n.*220+6468T>C)
c.1084T>C (p.Ser362Pro)
c.1111T>C (p.Ser371Pro)
c.1966T>C (p.Ser656Pro)
c.1780T>C (p.Ser594Pro)
c.1699T>C (p.Ser567Pro)
c.1405T>C (p.Ser469Pro)
c.1786T>C (p.Ser596Pro)
2g.48687756A>TCA346743051GTF2A1L,LHCGR,STON1-GTF2A1Lc.2041T>A (p.Ser681Thr)
c.*353T>A (n.*353T>A)
c.3441+16076A>T (n.3441+16076A>T)
c.*785T>A (n.*785T>A)
c.1960T>A (p.Ser654Thr)
c.276+16076A>T (n.276+16076A>T)
c.*220+6468T>A (n.*220+6468T>A)
c.1084T>A (p.Ser362Thr)
c.1111T>A (p.Ser371Thr)
c.1966T>A (p.Ser656Thr)
c.1780T>A (p.Ser594Thr)
c.1699T>A (p.Ser567Thr)
c.1405T>A (p.Ser469Thr)
c.1786T>A (p.Ser596Thr)
2g.48687757C>ACA346743056GTF2A1L,LHCGR,STON1-GTF2A1Lc.2040G>T (p.Leu680Phe)
c.*352G>T (n.*352G>T)
c.3441+16077C>A (n.3441+16077C>A)
c.*784G>T (n.*784G>T)
c.1959G>T (p.Leu653Phe)
c.276+16077C>A (n.276+16077C>A)
c.*220+6467G>T (n.*220+6467G>T)
c.1083G>T (p.Leu361Phe)
c.1110G>T (p.Leu370Phe)
c.1965G>T (p.Leu655Phe)
c.1779G>T (p.Leu593Phe)
c.1698G>T (p.Leu566Phe)
c.1404G>T (p.Leu468Phe)
c.1785G>T (p.Leu595Phe)
2g.48687757C>GCA346743058GTF2A1L,LHCGR,STON1-GTF2A1Lc.2040G>C (p.Leu680Phe)
c.*352G>C (n.*352G>C)
c.3441+16077C>G (n.3441+16077C>G)
c.*784G>C (n.*784G>C)
c.1959G>C (p.Leu653Phe)
c.276+16077C>G (n.276+16077C>G)
c.*220+6467G>C (n.*220+6467G>C)
c.1083G>C (p.Leu361Phe)
c.1110G>C (p.Leu370Phe)
c.1965G>C (p.Leu655Phe)
c.1779G>C (p.Leu593Phe)
c.1698G>C (p.Leu566Phe)
c.1404G>C (p.Leu468Phe)
c.1785G>C (p.Leu595Phe)
2g.48687757C>TCA426124954GTF2A1L,LHCGR,STON1-GTF2A1Lc.2040G>A (p.Leu680=)
c.*352G>A (n.*352G>A)
c.3441+16077C>T (n.3441+16077C>T)
c.*784G>A (n.*784G>A)
c.1959G>A (p.Leu653=)
c.276+16077C>T (n.276+16077C>T)
c.*220+6467G>A (n.*220+6467G>A)
c.1083G>A (p.Leu361=)
c.1110G>A (p.Leu370=)
c.1965G>A (p.Leu655=)
c.1779G>A (p.Leu593=)
c.1698G>A (p.Leu566=)
c.1404G>A (p.Leu468=)
c.1785G>A (p.Leu595=)
2g.48687758A>CCA346743060GTF2A1L,LHCGR,STON1-GTF2A1Lc.2039T>G (p.Leu680Trp)
c.*351T>G (n.*351T>G)
c.3441+16078A>C (n.3441+16078A>C)
c.*783T>G (n.*783T>G)
c.1958T>G (p.Leu653Trp)
c.276+16078A>C (n.276+16078A>C)
c.*220+6466T>G (n.*220+6466T>G)
c.1082T>G (p.Leu361Trp)
c.1109T>G (p.Leu370Trp)
c.1964T>G (p.Leu655Trp)
c.1778T>G (p.Leu593Trp)
c.1697T>G (p.Leu566Trp)
c.1403T>G (p.Leu468Trp)
c.1784T>G (p.Leu595Trp)
2g.48687758A>GCA346743068GTF2A1L,LHCGR,STON1-GTF2A1Lc.2039T>C (p.Leu680Ser)
c.*351T>C (n.*351T>C)
c.3441+16078A>G (n.3441+16078A>G)
c.*783T>C (n.*783T>C)
c.1958T>C (p.Leu653Ser)
c.276+16078A>G (n.276+16078A>G)
c.*220+6466T>C (n.*220+6466T>C)
c.1082T>C (p.Leu361Ser)
c.1109T>C (p.Leu370Ser)
c.1964T>C (p.Leu655Ser)
c.1778T>C (p.Leu593Ser)
c.1697T>C (p.Leu566Ser)
c.1403T>C (p.Leu468Ser)
c.1784T>C (p.Leu595Ser)
2g.48687758A>TCA346743063GTF2A1L,LHCGR,STON1-GTF2A1Lc.2039T>A (p.Leu680Ter)
c.*351T>A (n.*351T>A)
c.3441+16078A>T (n.3441+16078A>T)
c.*783T>A (n.*783T>A)
c.1958T>A (p.Leu653Ter)
c.276+16078A>T (n.276+16078A>T)
c.*220+6466T>A (n.*220+6466T>A)
c.1082T>A (p.Leu361Ter)
c.1109T>A (p.Leu370Ter)
c.1964T>A (p.Leu655Ter)
c.1778T>A (p.Leu593Ter)
c.1697T>A (p.Leu566Ter)
c.1403T>A (p.Leu468Ter)
c.1784T>A (p.Leu595Ter)
2g.48687759A=CA1248600825GTF2A1L,LHCGR,STON1-GTF2A1Lc.2038T= (p.Leu680=)
c.*350T= (n.*350T=)
c.3441+16079A= (n.3441+16079A=)
c.*782T= (n.*782T=)
c.1957T= (p.Leu653=)
c.276+16079A= (n.276+16079A=)
c.*220+6465T= (n.*220+6465T=)
c.1081T= (p.Leu361=)
c.1108T= (p.Leu370=)
c.1963T= (p.Leu655=)
c.1777T= (p.Leu593=)
c.1696T= (p.Leu566=)
c.1402T= (p.Leu468=)
c.1783T= (p.Leu595=)
2g.48687759A>CCA346743071GTF2A1L,LHCGR,STON1-GTF2A1Lc.2038T>G (p.Leu680Val)
c.*350T>G (n.*350T>G)
c.3441+16079A>C (n.3441+16079A>C)
c.*782T>G (n.*782T>G)
c.1957T>G (p.Leu653Val)
c.276+16079A>C (n.276+16079A>C)
c.*220+6465T>G (n.*220+6465T>G)
c.1081T>G (p.Leu361Val)
c.1108T>G (p.Leu370Val)
c.1963T>G (p.Leu655Val)
c.1777T>G (p.Leu593Val)
c.1696T>G (p.Leu566Val)
c.1402T>G (p.Leu468Val)
c.1783T>G (p.Leu595Val)
2g.48687759A>GCA426124959GTF2A1L,LHCGR,STON1-GTF2A1Lc.2038T>C (p.Leu680=)
c.*350T>C (n.*350T>C)
c.3441+16079A>G (n.3441+16079A>G)
c.*782T>C (n.*782T>C)
c.1957T>C (p.Leu653=)
c.276+16079A>G (n.276+16079A>G)
c.*220+6465T>C (n.*220+6465T>C)
c.1081T>C (p.Leu361=)
c.1108T>C (p.Leu370=)
c.1963T>C (p.Leu655=)
c.1777T>C (p.Leu593=)
c.1696T>C (p.Leu566=)
c.1402T>C (p.Leu468=)
c.1783T>C (p.Leu595=)
 dbSNP gnomAD v2 gnomAD v4
2g.48687759A>TCA346743074GTF2A1L,LHCGR,STON1-GTF2A1Lc.2038T>A (p.Leu680Met)
c.*350T>A (n.*350T>A)
c.3441+16079A>T (n.3441+16079A>T)
c.*782T>A (n.*782T>A)
c.1957T>A (p.Leu653Met)
c.276+16079A>T (n.276+16079A>T)
c.*220+6465T>A (n.*220+6465T>A)
c.1081T>A (p.Leu361Met)
c.1108T>A (p.Leu370Met)
c.1963T>A (p.Leu655Met)
c.1777T>A (p.Leu593Met)
c.1696T>A (p.Leu566Met)
c.1402T>A (p.Leu468Met)
c.1783T>A (p.Leu595Met)
2g.48687760C>ACA346743076GTF2A1L,LHCGR,STON1-GTF2A1Lc.2037G>T (p.Lys679Asn)
c.*349G>T (n.*349G>T)
c.3441+16080C>A (n.3441+16080C>A)
c.*781G>T (n.*781G>T)
c.1956G>T (p.Lys652Asn)
c.276+16080C>A (n.276+16080C>A)
c.*220+6464G>T (n.*220+6464G>T)
c.1080G>T (p.Lys360Asn)
c.1107G>T (p.Lys369Asn)
c.1962G>T (p.Lys654Asn)
c.1776G>T (p.Lys592Asn)
c.1695G>T (p.Lys565Asn)
c.1401G>T (p.Lys467Asn)
c.1782G>T (p.Lys594Asn)
 dbSNP gnomAD v4
2g.48687760C=CA1248600826GTF2A1L,LHCGR,STON1-GTF2A1Lc.2037G= (p.Lys679=)
c.*349G= (n.*349G=)
c.3441+16080C= (n.3441+16080C=)
c.*781G= (n.*781G=)
c.1956G= (p.Lys652=)
c.276+16080C= (n.276+16080C=)
c.*220+6464G= (n.*220+6464G=)
c.1080G= (p.Lys360=)
c.1107G= (p.Lys369=)
c.1962G= (p.Lys654=)
c.1776G= (p.Lys592=)
c.1695G= (p.Lys565=)
c.1401G= (p.Lys467=)
c.1782G= (p.Lys594=)
2g.48687760C>GCA346743078GTF2A1L,LHCGR,STON1-GTF2A1Lc.2037G>C (p.Lys679Asn)
c.*349G>C (n.*349G>C)
c.3441+16080C>G (n.3441+16080C>G)
c.*781G>C (n.*781G>C)
c.1956G>C (p.Lys652Asn)
c.276+16080C>G (n.276+16080C>G)
c.*220+6464G>C (n.*220+6464G>C)
c.1080G>C (p.Lys360Asn)
c.1107G>C (p.Lys369Asn)
c.1962G>C (p.Lys654Asn)
c.1776G>C (p.Lys592Asn)
c.1695G>C (p.Lys565Asn)
c.1401G>C (p.Lys467Asn)
c.1782G>C (p.Lys594Asn)
2g.48687760C>TCA1652942GTF2A1L,LHCGR,STON1-GTF2A1Lc.2037G>A (p.Lys679=)
c.*349G>A (n.*349G>A)
c.3441+16080C>T (n.3441+16080C>T)
c.*781G>A (n.*781G>A)
c.1956G>A (p.Lys652=)
c.276+16080C>T (n.276+16080C>T)
c.*220+6464G>A (n.*220+6464G>A)
c.1080G>A (p.Lys360=)
c.1107G>A (p.Lys369=)
c.1962G>A (p.Lys654=)
c.1776G>A (p.Lys592=)
c.1695G>A (p.Lys565=)
c.1401G>A (p.Lys467=)
c.1782G>A (p.Lys594=)
 dbSNP ExAC gnomAD v2
2g.48687761_48687763delCA645522020GTF2A1L,LHCGR,STON1-GTF2A1Lc.2035_2037del (p.Lys679del)
c.*347_*349del (n.*347_*349del)
c.3441+16081_3441+16083del (n.3441+16081_3441+16083del)
c.*779_*781del (n.*779_*781del)
c.1954_1956del (p.Lys652del)
c.276+16081_276+16083del (n.276+16081_276+16083del)
c.*220+6462_*220+6464del (n.*220+6462_*220+6464del)
c.1078_1080del (p.Lys360del)
c.1105_1107del (p.Lys369del)
c.1960_1962del (p.Lys654del)
c.1774_1776del (p.Lys592del)
c.1693_1695del (p.Lys565del)
c.1399_1401del (p.Lys467del)
c.1780_1782del (p.Lys594del)
 COSMIC
2g.48687761T>ACA346743085GTF2A1L,LHCGR,STON1-GTF2A1Lc.2036A>T (p.Lys679Met)
c.*348A>T (n.*348A>T)
c.3441+16081T>A (n.3441+16081T>A)
c.*780A>T (n.*780A>T)
c.1955A>T (p.Lys652Met)
c.276+16081T>A (n.276+16081T>A)
c.*220+6463A>T (n.*220+6463A>T)
c.1079A>T (p.Lys360Met)
c.1106A>T (p.Lys369Met)
c.1961A>T (p.Lys654Met)
c.1775A>T (p.Lys592Met)
c.1694A>T (p.Lys565Met)
c.1400A>T (p.Lys467Met)
c.1781A>T (p.Lys594Met)
2g.48687761T>CCA346743088GTF2A1L,LHCGR,STON1-GTF2A1Lc.2036A>G (p.Lys679Arg)
c.*348A>G (n.*348A>G)
c.3441+16081T>C (n.3441+16081T>C)
c.*780A>G (n.*780A>G)
c.1955A>G (p.Lys652Arg)
c.276+16081T>C (n.276+16081T>C)
c.*220+6463A>G (n.*220+6463A>G)
c.1079A>G (p.Lys360Arg)
c.1106A>G (p.Lys369Arg)
c.1961A>G (p.Lys654Arg)
c.1775A>G (p.Lys592Arg)
c.1694A>G (p.Lys565Arg)
c.1400A>G (p.Lys467Arg)
c.1781A>G (p.Lys594Arg)
 gnomAD v4
2g.48687761T>GCA346743090GTF2A1L,LHCGR,STON1-GTF2A1Lc.2036A>C (p.Lys679Thr)
c.*348A>C (n.*348A>C)
c.3441+16081T>G (n.3441+16081T>G)
c.*780A>C (n.*780A>C)
c.1955A>C (p.Lys652Thr)
c.276+16081T>G (n.276+16081T>G)
c.*220+6463A>C (n.*220+6463A>C)
c.1079A>C (p.Lys360Thr)
c.1106A>C (p.Lys369Thr)
c.1961A>C (p.Lys654Thr)
c.1775A>C (p.Lys592Thr)
c.1694A>C (p.Lys565Thr)
c.1400A>C (p.Lys467Thr)
c.1781A>C (p.Lys594Thr)
2g.48687762T>ACA346743094GTF2A1L,LHCGR,STON1-GTF2A1Lc.2035A>T (p.Lys679Ter)
c.*347A>T (n.*347A>T)
c.3441+16082T>A (n.3441+16082T>A)
c.*779A>T (n.*779A>T)
c.1954A>T (p.Lys652Ter)
c.276+16082T>A (n.276+16082T>A)
c.*220+6462A>T (n.*220+6462A>T)
c.1078A>T (p.Lys360Ter)
c.1105A>T (p.Lys369Ter)
c.1960A>T (p.Lys654Ter)
c.1774A>T (p.Lys592Ter)
c.1693A>T (p.Lys565Ter)
c.1399A>T (p.Lys467Ter)
c.1780A>T (p.Lys594Ter)
2g.48687762T>CCA346743095GTF2A1L,LHCGR,STON1-GTF2A1Lc.2035A>G (p.Lys679Glu)
c.*347A>G (n.*347A>G)
c.3441+16082T>C (n.3441+16082T>C)
c.*779A>G (n.*779A>G)
c.1954A>G (p.Lys652Glu)
c.276+16082T>C (n.276+16082T>C)
c.*220+6462A>G (n.*220+6462A>G)
c.1078A>G (p.Lys360Glu)
c.1105A>G (p.Lys369Glu)
c.1960A>G (p.Lys654Glu)
c.1774A>G (p.Lys592Glu)
c.1693A>G (p.Lys565Glu)
c.1399A>G (p.Lys467Glu)
c.1780A>G (p.Lys594Glu)
2g.48687762T>GCA346743096GTF2A1L,LHCGR,STON1-GTF2A1Lc.2035A>C (p.Lys679Gln)
c.*347A>C (n.*347A>C)
c.3441+16082T>G (n.3441+16082T>G)
c.*779A>C (n.*779A>C)
c.1954A>C (p.Lys652Gln)
c.276+16082T>G (n.276+16082T>G)
c.*220+6462A>C (n.*220+6462A>C)
c.1078A>C (p.Lys360Gln)
c.1105A>C (p.Lys369Gln)
c.1960A>C (p.Lys654Gln)
c.1774A>C (p.Lys592Gln)
c.1693A>C (p.Lys565Gln)
c.1399A>C (p.Lys467Gln)
c.1780A>C (p.Lys594Gln)
2g.48687762T=CA1248600827GTF2A1L,LHCGR,STON1-GTF2A1Lc.2035A= (p.Lys679=)
c.*347A= (n.*347A=)
c.3441+16082T= (n.3441+16082T=)
c.*779A= (n.*779A=)
c.1954A= (p.Lys652=)
c.276+16082T= (n.276+16082T=)
c.*220+6462A= (n.*220+6462A=)
c.1078A= (p.Lys360=)
c.1105A= (p.Lys369=)
c.1960A= (p.Lys654=)
c.1774A= (p.Lys592=)
c.1693A= (p.Lys565=)
c.1399A= (p.Lys467=)
c.1780A= (p.Lys594=)
2g.48687762_48687763insACA1652943GTF2A1L,LHCGR,STON1-GTF2A1Lc.2034_2035insT (p.Lys679Ter)
c.*346_*347insT (n.*346_*347insT)
c.3441+16082_3441+16083insA (n.3441+16082_3441+16083insA)
c.*778_*779insT (n.*778_*779insT)
c.1953_1954insT (p.Lys652Ter)
c.276+16082_276+16083insA (n.276+16082_276+16083insA)
c.*220+6461_*220+6462insT (n.*220+6461_*220+6462insT)
c.1077_1078insT (p.Lys360Ter)
c.1104_1105insT (p.Lys369Ter)
c.1959_1960insT (p.Lys654Ter)
c.1773_1774insT (p.Lys592Ter)
c.1692_1693insT (p.Lys565Ter)
c.1398_1399insT (p.Lys467Ter)
c.1779_1780insT (p.Lys594Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48687763C>ACA1652944GTF2A1L,LHCGR,STON1-GTF2A1Lc.2034G>T (p.Leu678Phe)
c.*346G>T (n.*346G>T)
c.3441+16083C>A (n.3441+16083C>A)
c.*778G>T (n.*778G>T)
c.1953G>T (p.Leu651Phe)
c.276+16083C>A (n.276+16083C>A)
c.*220+6461G>T (n.*220+6461G>T)
c.1077G>T (p.Leu359Phe)
c.1104G>T (p.Leu368Phe)
c.1959G>T (p.Leu653Phe)
c.1773G>T (p.Leu591Phe)
c.1692G>T (p.Leu564Phe)
c.1398G>T (p.Leu466Phe)
c.1779G>T (p.Leu593Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48687763C=CA1248600828GTF2A1L,LHCGR,STON1-GTF2A1Lc.2034G= (p.Leu678=)
c.*346G= (n.*346G=)
c.3441+16083C= (n.3441+16083C=)
c.*778G= (n.*778G=)
c.1953G= (p.Leu651=)
c.276+16083C= (n.276+16083C=)
c.*220+6461G= (n.*220+6461G=)
c.1077G= (p.Leu359=)
c.1104G= (p.Leu368=)
c.1959G= (p.Leu653=)
c.1773G= (p.Leu591=)
c.1692G= (p.Leu564=)
c.1398G= (p.Leu466=)
c.1779G= (p.Leu593=)
2g.48687763C>GCA346743098GTF2A1L,LHCGR,STON1-GTF2A1Lc.2034G>C (p.Leu678Phe)
c.*346G>C (n.*346G>C)
c.3441+16083C>G (n.3441+16083C>G)
c.*778G>C (n.*778G>C)
c.1953G>C (p.Leu651Phe)
c.276+16083C>G (n.276+16083C>G)
c.*220+6461G>C (n.*220+6461G>C)
c.1077G>C (p.Leu359Phe)
c.1104G>C (p.Leu368Phe)
c.1959G>C (p.Leu653Phe)
c.1773G>C (p.Leu591Phe)
c.1692G>C (p.Leu564Phe)
c.1398G>C (p.Leu466Phe)
c.1779G>C (p.Leu593Phe)
2g.48687763C>TCA426124968GTF2A1L,LHCGR,STON1-GTF2A1Lc.2034G>A (p.Leu678=)
c.*346G>A (n.*346G>A)
c.3441+16083C>T (n.3441+16083C>T)
c.*778G>A (n.*778G>A)
c.1953G>A (p.Leu651=)
c.276+16083C>T (n.276+16083C>T)
c.*220+6461G>A (n.*220+6461G>A)
c.1077G>A (p.Leu359=)
c.1104G>A (p.Leu368=)
c.1959G>A (p.Leu653=)
c.1773G>A (p.Leu591=)
c.1692G>A (p.Leu564=)
c.1398G>A (p.Leu466=)
c.1779G>A (p.Leu593=)
2g.48687764A>CCA346743101GTF2A1L,LHCGR,STON1-GTF2A1Lc.2033T>G (p.Leu678Trp)
c.*345T>G (n.*345T>G)
c.3441+16084A>C (n.3441+16084A>C)
c.*777T>G (n.*777T>G)
c.1952T>G (p.Leu651Trp)
c.276+16084A>C (n.276+16084A>C)
c.*220+6460T>G (n.*220+6460T>G)
c.1076T>G (p.Leu359Trp)
c.1103T>G (p.Leu368Trp)
c.1958T>G (p.Leu653Trp)
c.1772T>G (p.Leu591Trp)
c.1691T>G (p.Leu564Trp)
c.1397T>G (p.Leu466Trp)
c.1778T>G (p.Leu593Trp)
2g.48687764A>GCA346743102GTF2A1L,LHCGR,STON1-GTF2A1Lc.2033T>C (p.Leu678Ser)
c.*345T>C (n.*345T>C)
c.3441+16084A>G (n.3441+16084A>G)
c.*777T>C (n.*777T>C)
c.1952T>C (p.Leu651Ser)
c.276+16084A>G (n.276+16084A>G)
c.*220+6460T>C (n.*220+6460T>C)
c.1076T>C (p.Leu359Ser)
c.1103T>C (p.Leu368Ser)
c.1958T>C (p.Leu653Ser)
c.1772T>C (p.Leu591Ser)
c.1691T>C (p.Leu564Ser)
c.1397T>C (p.Leu466Ser)
c.1778T>C (p.Leu593Ser)
2g.48687764A>TCA346743103GTF2A1L,LHCGR,STON1-GTF2A1Lc.2033T>A (p.Leu678Ter)
c.*345T>A (n.*345T>A)
c.3441+16084A>T (n.3441+16084A>T)
c.*777T>A (n.*777T>A)
c.1952T>A (p.Leu651Ter)
c.276+16084A>T (n.276+16084A>T)
c.*220+6460T>A (n.*220+6460T>A)
c.1076T>A (p.Leu359Ter)
c.1103T>A (p.Leu368Ter)
c.1958T>A (p.Leu653Ter)
c.1772T>A (p.Leu591Ter)
c.1691T>A (p.Leu564Ter)
c.1397T>A (p.Leu466Ter)
c.1778T>A (p.Leu593Ter)
2g.48687765A>CCA346743104GTF2A1L,LHCGR,STON1-GTF2A1Lc.2032T>G (p.Leu678Val)
c.*344T>G (n.*344T>G)
c.3441+16085A>C (n.3441+16085A>C)
c.*776T>G (n.*776T>G)
c.1951T>G (p.Leu651Val)
c.276+16085A>C (n.276+16085A>C)
c.*220+6459T>G (n.*220+6459T>G)
c.1075T>G (p.Leu359Val)
c.1102T>G (p.Leu368Val)
c.1957T>G (p.Leu653Val)
c.1771T>G (p.Leu591Val)
c.1690T>G (p.Leu564Val)
c.1396T>G (p.Leu466Val)
c.1777T>G (p.Leu593Val)
2g.48687765A>GCA426124973GTF2A1L,LHCGR,STON1-GTF2A1Lc.2032T>C (p.Leu678=)
c.*344T>C (n.*344T>C)
c.3441+16085A>G (n.3441+16085A>G)
c.*776T>C (n.*776T>C)
c.1951T>C (p.Leu651=)
c.276+16085A>G (n.276+16085A>G)
c.*220+6459T>C (n.*220+6459T>C)
c.1075T>C (p.Leu359=)
c.1102T>C (p.Leu368=)
c.1957T>C (p.Leu653=)
c.1771T>C (p.Leu591=)
c.1690T>C (p.Leu564=)
c.1396T>C (p.Leu466=)
c.1777T>C (p.Leu593=)
 gnomAD v4
2g.48687765A>TCA346743105GTF2A1L,LHCGR,STON1-GTF2A1Lc.2032T>A (p.Leu678Met)
c.*344T>A (n.*344T>A)
c.3441+16085A>T (n.3441+16085A>T)
c.*776T>A (n.*776T>A)
c.1951T>A (p.Leu651Met)
c.276+16085A>T (n.276+16085A>T)
c.*220+6459T>A (n.*220+6459T>A)
c.1075T>A (p.Leu359Met)
c.1102T>A (p.Leu368Met)
c.1957T>A (p.Leu653Met)
c.1771T>A (p.Leu591Met)
c.1690T>A (p.Leu564Met)
c.1396T>A (p.Leu466Met)
c.1777T>A (p.Leu593Met)
2g.48687766G>ACA426124974GTF2A1L,LHCGR,STON1-GTF2A1Lc.2031C>T (p.Thr677=)
c.*343C>T (n.*343C>T)
c.3441+16086G>A (n.3441+16086G>A)
c.*775C>T (n.*775C>T)
c.1950C>T (p.Thr650=)
c.276+16086G>A (n.276+16086G>A)
c.*220+6458C>T (n.*220+6458C>T)
c.1074C>T (p.Thr358=)
c.1101C>T (p.Thr367=)
c.1956C>T (p.Thr652=)
c.1770C>T (p.Thr590=)
c.1689C>T (p.Thr563=)
c.1395C>T (p.Thr465=)
c.1776C>T (p.Thr592=)
2g.48687766G>CCA1652945GTF2A1L,LHCGR,STON1-GTF2A1Lc.2031C>G (p.Thr677=)
c.*343C>G (n.*343C>G)
c.3441+16086G>C (n.3441+16086G>C)
c.*775C>G (n.*775C>G)
c.1950C>G (p.Thr650=)
c.276+16086G>C (n.276+16086G>C)
c.*220+6458C>G (n.*220+6458C>G)
c.1074C>G (p.Thr358=)
c.1101C>G (p.Thr367=)
c.1956C>G (p.Thr652=)
c.1770C>G (p.Thr590=)
c.1689C>G (p.Thr563=)
c.1395C>G (p.Thr465=)
c.1776C>G (p.Thr592=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48687766G=CA1248600829GTF2A1L,LHCGR,STON1-GTF2A1Lc.2031C= (p.Thr677=)
c.*343C= (n.*343C=)
c.3441+16086G= (n.3441+16086G=)
c.*775C= (n.*775C=)
c.1950C= (p.Thr650=)
c.276+16086G= (n.276+16086G=)
c.*220+6458C= (n.*220+6458C=)
c.1074C= (p.Thr358=)
c.1101C= (p.Thr367=)
c.1956C= (p.Thr652=)
c.1770C= (p.Thr590=)
c.1689C= (p.Thr563=)
c.1395C= (p.Thr465=)
c.1776C= (p.Thr592=)
2g.48687766G>TCA426124975GTF2A1L,LHCGR,STON1-GTF2A1Lc.2031C>A (p.Thr677=)
c.*343C>A (n.*343C>A)
c.3441+16086G>T (n.3441+16086G>T)
c.*775C>A (n.*775C>A)
c.1950C>A (p.Thr650=)
c.276+16086G>T (n.276+16086G>T)
c.*220+6458C>A (n.*220+6458C>A)
c.1074C>A (p.Thr358=)
c.1101C>A (p.Thr367=)
c.1956C>A (p.Thr652=)
c.1770C>A (p.Thr590=)
c.1689C>A (p.Thr563=)
c.1395C>A (p.Thr465=)
c.1776C>A (p.Thr592=)
2g.48687767G>ACA346743109GTF2A1L,LHCGR,STON1-GTF2A1Lc.2030C>T (p.Thr677Ile)
c.*342C>T (n.*342C>T)
c.3441+16087G>A (n.3441+16087G>A)
c.*774C>T (n.*774C>T)
c.1949C>T (p.Thr650Ile)
c.276+16087G>A (n.276+16087G>A)
c.*220+6457C>T (n.*220+6457C>T)
c.1073C>T (p.Thr358Ile)
c.1100C>T (p.Thr367Ile)
c.1955C>T (p.Thr652Ile)
c.1769C>T (p.Thr590Ile)
c.1688C>T (p.Thr563Ile)
c.1394C>T (p.Thr465Ile)
c.1775C>T (p.Thr592Ile)
2g.48687767G>CCA346743111GTF2A1L,LHCGR,STON1-GTF2A1Lc.2030C>G (p.Thr677Ser)
c.*342C>G (n.*342C>G)
c.3441+16087G>C (n.3441+16087G>C)
c.*774C>G (n.*774C>G)
c.1949C>G (p.Thr650Ser)
c.276+16087G>C (n.276+16087G>C)
c.*220+6457C>G (n.*220+6457C>G)
c.1073C>G (p.Thr358Ser)
c.1100C>G (p.Thr367Ser)
c.1955C>G (p.Thr652Ser)
c.1769C>G (p.Thr590Ser)
c.1688C>G (p.Thr563Ser)
c.1394C>G (p.Thr465Ser)
c.1775C>G (p.Thr592Ser)
 COSMIC
2g.48687767G>TCA346743112GTF2A1L,LHCGR,STON1-GTF2A1Lc.2030C>A (p.Thr677Asn)
c.*342C>A (n.*342C>A)
c.3441+16087G>T (n.3441+16087G>T)
c.*774C>A (n.*774C>A)
c.1949C>A (p.Thr650Asn)
c.276+16087G>T (n.276+16087G>T)
c.*220+6457C>A (n.*220+6457C>A)
c.1073C>A (p.Thr358Asn)
c.1100C>A (p.Thr367Asn)
c.1955C>A (p.Thr652Asn)
c.1769C>A (p.Thr590Asn)
c.1688C>A (p.Thr563Asn)
c.1394C>A (p.Thr465Asn)
c.1775C>A (p.Thr592Asn)
2g.48687768T>ACA346743116GTF2A1L,LHCGR,STON1-GTF2A1Lc.2029A>T (p.Thr677Ser)
c.*341A>T (n.*341A>T)
c.3441+16088T>A (n.3441+16088T>A)
c.*773A>T (n.*773A>T)
c.1948A>T (p.Thr650Ser)
c.276+16088T>A (n.276+16088T>A)
c.*220+6456A>T (n.*220+6456A>T)
c.1072A>T (p.Thr358Ser)
c.1099A>T (p.Thr367Ser)
c.1954A>T (p.Thr652Ser)
c.1768A>T (p.Thr590Ser)
c.1687A>T (p.Thr563Ser)
c.1393A>T (p.Thr465Ser)
c.1774A>T (p.Thr592Ser)
 gnomAD v4
2g.48687768T>CCA346743122GTF2A1L,LHCGR,STON1-GTF2A1Lc.2029A>G (p.Thr677Ala)
c.*341A>G (n.*341A>G)
c.3441+16088T>C (n.3441+16088T>C)
c.*773A>G (n.*773A>G)
c.1948A>G (p.Thr650Ala)
c.276+16088T>C (n.276+16088T>C)
c.*220+6456A>G (n.*220+6456A>G)
c.1072A>G (p.Thr358Ala)
c.1099A>G (p.Thr367Ala)
c.1954A>G (p.Thr652Ala)
c.1768A>G (p.Thr590Ala)
c.1687A>G (p.Thr563Ala)
c.1393A>G (p.Thr465Ala)
c.1774A>G (p.Thr592Ala)
 dbSNP
2g.48687768T>GCA346743124GTF2A1L,LHCGR,STON1-GTF2A1Lc.2029A>C (p.Thr677Pro)
c.*341A>C (n.*341A>C)
c.3441+16088T>G (n.3441+16088T>G)
c.*773A>C (n.*773A>C)
c.1948A>C (p.Thr650Pro)
c.276+16088T>G (n.276+16088T>G)
c.*220+6456A>C (n.*220+6456A>C)
c.1072A>C (p.Thr358Pro)
c.1099A>C (p.Thr367Pro)
c.1954A>C (p.Thr652Pro)
c.1768A>C (p.Thr590Pro)
c.1687A>C (p.Thr563Pro)
c.1393A>C (p.Thr465Pro)
c.1774A>C (p.Thr592Pro)
2g.48687769G>ACA46752464GTF2A1L,LHCGR,STON1-GTF2A1Lc.2028C>T (p.Ser676=)
c.*340C>T (n.*340C>T)
c.3441+16089G>A (n.3441+16089G>A)
c.*772C>T (n.*772C>T)
c.1947C>T (p.Ser649=)
c.276+16089G>A (n.276+16089G>A)
c.*220+6455C>T (n.*220+6455C>T)
c.1071C>T (p.Ser357=)
c.1098C>T (p.Ser366=)
c.1953C>T (p.Ser651=)
c.1767C>T (p.Ser589=)
c.1686C>T (p.Ser562=)
c.1392C>T (p.Ser464=)
c.1773C>T (p.Ser591=)
 dbSNP gnomAD v4 COSMIC
2g.48687769G>CCA426124983GTF2A1L,LHCGR,STON1-GTF2A1Lc.2028C>G (p.Ser676=)
c.*340C>G (n.*340C>G)
c.3441+16089G>C (n.3441+16089G>C)
c.*772C>G (n.*772C>G)
c.1947C>G (p.Ser649=)
c.276+16089G>C (n.276+16089G>C)
c.*220+6455C>G (n.*220+6455C>G)
c.1071C>G (p.Ser357=)
c.1098C>G (p.Ser366=)
c.1953C>G (p.Ser651=)
c.1767C>G (p.Ser589=)
c.1686C>G (p.Ser562=)
c.1392C>G (p.Ser464=)
c.1773C>G (p.Ser591=)
2g.48687769G=CA1248600830GTF2A1L,LHCGR,STON1-GTF2A1Lc.2028C= (p.Ser676=)
c.*340C= (n.*340C=)
c.3441+16089G= (n.3441+16089G=)
c.*772C= (n.*772C=)
c.1947C= (p.Ser649=)
c.276+16089G= (n.276+16089G=)
c.*220+6455C= (n.*220+6455C=)
c.1071C= (p.Ser357=)
c.1098C= (p.Ser366=)
c.1953C= (p.Ser651=)
c.1767C= (p.Ser589=)
c.1686C= (p.Ser562=)
c.1392C= (p.Ser464=)
c.1773C= (p.Ser591=)
2g.48687769G>TCA426124984GTF2A1L,LHCGR,STON1-GTF2A1Lc.2028C>A (p.Ser676=)
c.*340C>A (n.*340C>A)
c.3441+16089G>T (n.3441+16089G>T)
c.*772C>A (n.*772C>A)
c.1947C>A (p.Ser649=)
c.276+16089G>T (n.276+16089G>T)
c.*220+6455C>A (n.*220+6455C>A)
c.1071C>A (p.Ser357=)
c.1098C>A (p.Ser366=)
c.1953C>A (p.Ser651=)
c.1767C>A (p.Ser589=)
c.1686C>A (p.Ser562=)
c.1392C>A (p.Ser464=)
c.1773C>A (p.Ser591=)
2g.48687770G>ACA346743141GTF2A1L,LHCGR,STON1-GTF2A1Lc.2027C>T (p.Ser676Phe)
c.*339C>T (n.*339C>T)
c.3441+16090G>A (n.3441+16090G>A)
c.*771C>T (n.*771C>T)
c.1946C>T (p.Ser649Phe)
c.276+16090G>A (n.276+16090G>A)
c.*220+6454C>T (n.*220+6454C>T)
c.1070C>T (p.Ser357Phe)
c.1097C>T (p.Ser366Phe)
c.1952C>T (p.Ser651Phe)
c.1766C>T (p.Ser589Phe)
c.1685C>T (p.Ser562Phe)
c.1391C>T (p.Ser464Phe)
c.1772C>T (p.Ser591Phe)
 COSMIC
2g.48687770G>CCA346743136GTF2A1L,LHCGR,STON1-GTF2A1Lc.2027C>G (p.Ser676Cys)
c.*339C>G (n.*339C>G)
c.3441+16090G>C (n.3441+16090G>C)
c.*771C>G (n.*771C>G)
c.1946C>G (p.Ser649Cys)
c.276+16090G>C (n.276+16090G>C)
c.*220+6454C>G (n.*220+6454C>G)
c.1070C>G (p.Ser357Cys)
c.1097C>G (p.Ser366Cys)
c.1952C>G (p.Ser651Cys)
c.1766C>G (p.Ser589Cys)
c.1685C>G (p.Ser562Cys)
c.1391C>G (p.Ser464Cys)
c.1772C>G (p.Ser591Cys)
 dbSNP gnomAD v3 gnomAD v4
2g.48687770G=CA1248600831GTF2A1L,LHCGR,STON1-GTF2A1Lc.2027C= (p.Ser676=)
c.*339C= (n.*339C=)
c.3441+16090G= (n.3441+16090G=)
c.*771C= (n.*771C=)
c.1946C= (p.Ser649=)
c.276+16090G= (n.276+16090G=)
c.*220+6454C= (n.*220+6454C=)
c.1070C= (p.Ser357=)
c.1097C= (p.Ser366=)
c.1952C= (p.Ser651=)
c.1766C= (p.Ser589=)
c.1685C= (p.Ser562=)
c.1391C= (p.Ser464=)
c.1772C= (p.Ser591=)
2g.48687770G>TCA346743139GTF2A1L,LHCGR,STON1-GTF2A1Lc.2027C>A (p.Ser676Tyr)
c.*339C>A (n.*339C>A)
c.3441+16090G>T (n.3441+16090G>T)
c.*771C>A (n.*771C>A)
c.1946C>A (p.Ser649Tyr)
c.276+16090G>T (n.276+16090G>T)
c.*220+6454C>A (n.*220+6454C>A)
c.1070C>A (p.Ser357Tyr)
c.1097C>A (p.Ser366Tyr)
c.1952C>A (p.Ser651Tyr)
c.1766C>A (p.Ser589Tyr)
c.1685C>A (p.Ser562Tyr)
c.1391C>A (p.Ser464Tyr)
c.1772C>A (p.Ser591Tyr)
2g.48687771A>CCA346743145GTF2A1L,LHCGR,STON1-GTF2A1Lc.2026T>G (p.Ser676Ala)
c.*338T>G (n.*338T>G)
c.3441+16091A>C (n.3441+16091A>C)
c.*770T>G (n.*770T>G)
c.1945T>G (p.Ser649Ala)
c.276+16091A>C (n.276+16091A>C)
c.*220+6453T>G (n.*220+6453T>G)
c.1069T>G (p.Ser357Ala)
c.1096T>G (p.Ser366Ala)
c.1951T>G (p.Ser651Ala)
c.1765T>G (p.Ser589Ala)
c.1684T>G (p.Ser562Ala)
c.1390T>G (p.Ser464Ala)
c.1771T>G (p.Ser591Ala)
2g.48687771A>GCA346743147GTF2A1L,LHCGR,STON1-GTF2A1Lc.2026T>C (p.Ser676Pro)
c.*338T>C (n.*338T>C)
c.3441+16091A>G (n.3441+16091A>G)
c.*770T>C (n.*770T>C)
c.1945T>C (p.Ser649Pro)
c.276+16091A>G (n.276+16091A>G)
c.*220+6453T>C (n.*220+6453T>C)
c.1069T>C (p.Ser357Pro)
c.1096T>C (p.Ser366Pro)
c.1951T>C (p.Ser651Pro)
c.1765T>C (p.Ser589Pro)
c.1684T>C (p.Ser562Pro)
c.1390T>C (p.Ser464Pro)
c.1771T>C (p.Ser591Pro)
2g.48687771A>TCA346743151GTF2A1L,LHCGR,STON1-GTF2A1Lc.2026T>A (p.Ser676Thr)
c.*338T>A (n.*338T>A)
c.3441+16091A>T (n.3441+16091A>T)
c.*770T>A (n.*770T>A)
c.1945T>A (p.Ser649Thr)
c.276+16091A>T (n.276+16091A>T)
c.*220+6453T>A (n.*220+6453T>A)
c.1069T>A (p.Ser357Thr)
c.1096T>A (p.Ser366Thr)
c.1951T>A (p.Ser651Thr)
c.1765T>A (p.Ser589Thr)
c.1684T>A (p.Ser562Thr)
c.1390T>A (p.Ser464Thr)
c.1771T>A (p.Ser591Thr)
2g.48687772T>ACA346743153GTF2A1L,LHCGR,STON1-GTF2A1Lc.2025A>T (p.Gln675His)
c.*337A>T (n.*337A>T)
c.3441+16092T>A (n.3441+16092T>A)
c.*769A>T (n.*769A>T)
c.1944A>T (p.Gln648His)
c.276+16092T>A (n.276+16092T>A)
c.*220+6452A>T (n.*220+6452A>T)
c.1068A>T (p.Gln356His)
c.1095A>T (p.Gln365His)
c.1950A>T (p.Gln650His)
c.1764A>T (p.Gln588His)
c.1683A>T (p.Gln561His)
c.1389A>T (p.Gln463His)
c.1770A>T (p.Gln590His)
2g.48687772T>CCA46752467GTF2A1L,LHCGR,STON1-GTF2A1Lc.2025A>G (p.Gln675=)
c.*337A>G (n.*337A>G)
c.3441+16092T>C (n.3441+16092T>C)
c.*769A>G (n.*769A>G)
c.1944A>G (p.Gln648=)
c.276+16092T>C (n.276+16092T>C)
c.*220+6452A>G (n.*220+6452A>G)
c.1068A>G (p.Gln356=)
c.1095A>G (p.Gln365=)
c.1950A>G (p.Gln650=)
c.1764A>G (p.Gln588=)
c.1683A>G (p.Gln561=)
c.1389A>G (p.Gln463=)
c.1770A>G (p.Gln590=)
 dbSNP gnomAD v2 gnomAD v4
2g.48687772T>GCA346743154GTF2A1L,LHCGR,STON1-GTF2A1Lc.2025A>C (p.Gln675His)
c.*337A>C (n.*337A>C)
c.3441+16092T>G (n.3441+16092T>G)
c.*769A>C (n.*769A>C)
c.1944A>C (p.Gln648His)
c.276+16092T>G (n.276+16092T>G)
c.*220+6452A>C (n.*220+6452A>C)
c.1068A>C (p.Gln356His)
c.1095A>C (p.Gln365His)
c.1950A>C (p.Gln650His)
c.1764A>C (p.Gln588His)
c.1683A>C (p.Gln561His)
c.1389A>C (p.Gln463His)
c.1770A>C (p.Gln590His)
2g.48687772T=CA1248600832GTF2A1L,LHCGR,STON1-GTF2A1Lc.2025A= (p.Gln675=)
c.*337A= (n.*337A=)
c.3441+16092T= (n.3441+16092T=)
c.*769A= (n.*769A=)
c.1944A= (p.Gln648=)
c.276+16092T= (n.276+16092T=)
c.*220+6452A= (n.*220+6452A=)
c.1068A= (p.Gln356=)
c.1095A= (p.Gln365=)
c.1950A= (p.Gln650=)
c.1764A= (p.Gln588=)
c.1683A= (p.Gln561=)
c.1389A= (p.Gln463=)
c.1770A= (p.Gln590=)
2g.48687773T>ACA346743156GTF2A1L,LHCGR,STON1-GTF2A1Lc.2024A>T (p.Gln675Leu)
c.*336A>T (n.*336A>T)
c.3441+16093T>A (n.3441+16093T>A)
c.*768A>T (n.*768A>T)
c.1943A>T (p.Gln648Leu)
c.276+16093T>A (n.276+16093T>A)
c.*220+6451A>T (n.*220+6451A>T)
c.1067A>T (p.Gln356Leu)
c.1094A>T (p.Gln365Leu)
c.1949A>T (p.Gln650Leu)
c.1763A>T (p.Gln588Leu)
c.1682A>T (p.Gln561Leu)
c.1388A>T (p.Gln463Leu)
c.1769A>T (p.Gln590Leu)
2g.48687773T>CCA346743159GTF2A1L,LHCGR,STON1-GTF2A1Lc.2024A>G (p.Gln675Arg)
c.*336A>G (n.*336A>G)
c.3441+16093T>C (n.3441+16093T>C)
c.*768A>G (n.*768A>G)
c.1943A>G (p.Gln648Arg)
c.276+16093T>C (n.276+16093T>C)
c.*220+6451A>G (n.*220+6451A>G)
c.1067A>G (p.Gln356Arg)
c.1094A>G (p.Gln365Arg)
c.1949A>G (p.Gln650Arg)
c.1763A>G (p.Gln588Arg)
c.1682A>G (p.Gln561Arg)
c.1388A>G (p.Gln463Arg)
c.1769A>G (p.Gln590Arg)
2g.48687773T>GCA346743165GTF2A1L,LHCGR,STON1-GTF2A1Lc.2024A>C (p.Gln675Pro)
c.*336A>C (n.*336A>C)
c.3441+16093T>G (n.3441+16093T>G)
c.*768A>C (n.*768A>C)
c.1943A>C (p.Gln648Pro)
c.276+16093T>G (n.276+16093T>G)
c.*220+6451A>C (n.*220+6451A>C)
c.1067A>C (p.Gln356Pro)
c.1094A>C (p.Gln365Pro)
c.1949A>C (p.Gln650Pro)
c.1763A>C (p.Gln588Pro)
c.1682A>C (p.Gln561Pro)
c.1388A>C (p.Gln463Pro)
c.1769A>C (p.Gln590Pro)
 gnomAD v4
2g.48687774G>ACA346743168GTF2A1L,LHCGR,STON1-GTF2A1Lc.2023C>T (p.Gln675Ter)
c.*335C>T (n.*335C>T)
c.3441+16094G>A (n.3441+16094G>A)
c.*767C>T (n.*767C>T)
c.1942C>T (p.Gln648Ter)
c.276+16094G>A (n.276+16094G>A)
c.*220+6450C>T (n.*220+6450C>T)
c.1066C>T (p.Gln356Ter)
c.1093C>T (p.Gln365Ter)
c.1948C>T (p.Gln650Ter)
c.1762C>T (p.Gln588Ter)
c.1681C>T (p.Gln561Ter)
c.1387C>T (p.Gln463Ter)
c.1768C>T (p.Gln590Ter)
 gnomAD v4
2g.48687774G>CCA346743169GTF2A1L,LHCGR,STON1-GTF2A1Lc.2023C>G (p.Gln675Glu)
c.*335C>G (n.*335C>G)
c.3441+16094G>C (n.3441+16094G>C)
c.*767C>G (n.*767C>G)
c.1942C>G (p.Gln648Glu)
c.276+16094G>C (n.276+16094G>C)
c.*220+6450C>G (n.*220+6450C>G)
c.1066C>G (p.Gln356Glu)
c.1093C>G (p.Gln365Glu)
c.1948C>G (p.Gln650Glu)
c.1762C>G (p.Gln588Glu)
c.1681C>G (p.Gln561Glu)
c.1387C>G (p.Gln463Glu)
c.1768C>G (p.Gln590Glu)
2g.48687774G=CA1248600833GTF2A1L,LHCGR,STON1-GTF2A1Lc.2023C= (p.Gln675=)
c.*335C= (n.*335C=)
c.3441+16094G= (n.3441+16094G=)
c.*767C= (n.*767C=)
c.1942C= (p.Gln648=)
c.276+16094G= (n.276+16094G=)
c.*220+6450C= (n.*220+6450C=)
c.1066C= (p.Gln356=)
c.1093C= (p.Gln365=)
c.1948C= (p.Gln650=)
c.1762C= (p.Gln588=)
c.1681C= (p.Gln561=)
c.1387C= (p.Gln463=)
c.1768C= (p.Gln590=)
2g.48687774G>TCA1652946GTF2A1L,LHCGR,STON1-GTF2A1Lc.2023C>A (p.Gln675Lys)
c.*335C>A (n.*335C>A)
c.3441+16094G>T (n.3441+16094G>T)
c.*767C>A (n.*767C>A)
c.1942C>A (p.Gln648Lys)
c.276+16094G>T (n.276+16094G>T)
c.*220+6450C>A (n.*220+6450C>A)
c.1066C>A (p.Gln356Lys)
c.1093C>A (p.Gln365Lys)
c.1948C>A (p.Gln650Lys)
c.1762C>A (p.Gln588Lys)
c.1681C>A (p.Gln561Lys)
c.1387C>A (p.Gln463Lys)
c.1768C>A (p.Gln590Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48687775A>CCA426124993GTF2A1L,LHCGR,STON1-GTF2A1Lc.2022T>G (p.Ser674=)
c.*334T>G (n.*334T>G)
c.3441+16095A>C (n.3441+16095A>C)
c.*766T>G (n.*766T>G)
c.1941T>G (p.Ser647=)
c.276+16095A>C (n.276+16095A>C)
c.*220+6449T>G (n.*220+6449T>G)
c.1065T>G (p.Ser355=)
c.1092T>G (p.Ser364=)
c.1947T>G (p.Ser649=)
c.1761T>G (p.Ser587=)
c.1680T>G (p.Ser560=)
c.1386T>G (p.Ser462=)
c.1767T>G (p.Ser589=)
2g.48687775A>GCA426124991GTF2A1L,LHCGR,STON1-GTF2A1Lc.2022T>C (p.Ser674=)
c.*334T>C (n.*334T>C)
c.3441+16095A>G (n.3441+16095A>G)
c.*766T>C (n.*766T>C)
c.1941T>C (p.Ser647=)
c.276+16095A>G (n.276+16095A>G)
c.*220+6449T>C (n.*220+6449T>C)
c.1065T>C (p.Ser355=)
c.1092T>C (p.Ser364=)
c.1947T>C (p.Ser649=)
c.1761T>C (p.Ser587=)
c.1680T>C (p.Ser560=)
c.1386T>C (p.Ser462=)
c.1767T>C (p.Ser589=)
 gnomAD v4
2g.48687775A>TCA426124992GTF2A1L,LHCGR,STON1-GTF2A1Lc.2022T>A (p.Ser674=)
c.*334T>A (n.*334T>A)
c.3441+16095A>T (n.3441+16095A>T)
c.*766T>A (n.*766T>A)
c.1941T>A (p.Ser647=)
c.276+16095A>T (n.276+16095A>T)
c.*220+6449T>A (n.*220+6449T>A)
c.1065T>A (p.Ser355=)
c.1092T>A (p.Ser364=)
c.1947T>A (p.Ser649=)
c.1761T>A (p.Ser587=)
c.1680T>A (p.Ser560=)
c.1386T>A (p.Ser462=)
c.1767T>A (p.Ser589=)
2g.48687776G>ACA346743181GTF2A1L,LHCGR,STON1-GTF2A1Lc.2021C>T (p.Ser674Phe)
c.*333C>T (n.*333C>T)
c.3441+16096G>A (n.3441+16096G>A)
c.*765C>T (n.*765C>T)
c.1940C>T (p.Ser647Phe)
c.276+16096G>A (n.276+16096G>A)
c.*220+6448C>T (n.*220+6448C>T)
c.1064C>T (p.Ser355Phe)
c.1091C>T (p.Ser364Phe)
c.1946C>T (p.Ser649Phe)
c.1760C>T (p.Ser587Phe)
c.1679C>T (p.Ser560Phe)
c.1385C>T (p.Ser462Phe)
c.1766C>T (p.Ser589Phe)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.48687776G>CCA346743178GTF2A1L,LHCGR,STON1-GTF2A1Lc.2021C>G (p.Ser674Cys)
c.*333C>G (n.*333C>G)
c.3441+16096G>C (n.3441+16096G>C)
c.*765C>G (n.*765C>G)
c.1940C>G (p.Ser647Cys)
c.276+16096G>C (n.276+16096G>C)
c.*220+6448C>G (n.*220+6448C>G)
c.1064C>G (p.Ser355Cys)
c.1091C>G (p.Ser364Cys)
c.1946C>G (p.Ser649Cys)
c.1760C>G (p.Ser587Cys)
c.1679C>G (p.Ser560Cys)
c.1385C>G (p.Ser462Cys)
c.1766C>G (p.Ser589Cys)
2g.48687776G=CA1248600834GTF2A1L,LHCGR,STON1-GTF2A1Lc.2021C= (p.Ser674=)
c.*333C= (n.*333C=)
c.3441+16096G= (n.3441+16096G=)
c.*765C= (n.*765C=)
c.1940C= (p.Ser647=)
c.276+16096G= (n.276+16096G=)
c.*220+6448C= (n.*220+6448C=)
c.1064C= (p.Ser355=)
c.1091C= (p.Ser364=)
c.1946C= (p.Ser649=)
c.1760C= (p.Ser587=)
c.1679C= (p.Ser560=)
c.1385C= (p.Ser462=)
c.1766C= (p.Ser589=)
2g.48687776G>TCA346743179GTF2A1L,LHCGR,STON1-GTF2A1Lc.2021C>A (p.Ser674Tyr)
c.*333C>A (n.*333C>A)
c.3441+16096G>T (n.3441+16096G>T)
c.*765C>A (n.*765C>A)
c.1940C>A (p.Ser647Tyr)
c.276+16096G>T (n.276+16096G>T)
c.*220+6448C>A (n.*220+6448C>A)
c.1064C>A (p.Ser355Tyr)
c.1091C>A (p.Ser364Tyr)
c.1946C>A (p.Ser649Tyr)
c.1760C>A (p.Ser587Tyr)
c.1679C>A (p.Ser560Tyr)
c.1385C>A (p.Ser462Tyr)
c.1766C>A (p.Ser589Tyr)
2g.48687777A>CCA346743183GTF2A1L,LHCGR,STON1-GTF2A1Lc.2020T>G (p.Ser674Ala)
c.*332T>G (n.*332T>G)
c.3441+16097A>C (n.3441+16097A>C)
c.*764T>G (n.*764T>G)
c.1939T>G (p.Ser647Ala)
c.276+16097A>C (n.276+16097A>C)
c.*220+6447T>G (n.*220+6447T>G)
c.1063T>G (p.Ser355Ala)
c.1090T>G (p.Ser364Ala)
c.1945T>G (p.Ser649Ala)
c.1759T>G (p.Ser587Ala)
c.1678T>G (p.Ser560Ala)
c.1384T>G (p.Ser462Ala)
c.1765T>G (p.Ser589Ala)
2g.48687777A>GCA346743189GTF2A1L,LHCGR,STON1-GTF2A1Lc.2020T>C (p.Ser674Pro)
c.*332T>C (n.*332T>C)
c.3441+16097A>G (n.3441+16097A>G)
c.*764T>C (n.*764T>C)
c.1939T>C (p.Ser647Pro)
c.276+16097A>G (n.276+16097A>G)
c.*220+6447T>C (n.*220+6447T>C)
c.1063T>C (p.Ser355Pro)
c.1090T>C (p.Ser364Pro)
c.1945T>C (p.Ser649Pro)
c.1759T>C (p.Ser587Pro)
c.1678T>C (p.Ser560Pro)
c.1384T>C (p.Ser462Pro)
c.1765T>C (p.Ser589Pro)
2g.48687777A>TCA346743192GTF2A1L,LHCGR,STON1-GTF2A1Lc.2020T>A (p.Ser674Thr)
c.*332T>A (n.*332T>A)
c.3441+16097A>T (n.3441+16097A>T)
c.*764T>A (n.*764T>A)
c.1939T>A (p.Ser647Thr)
c.276+16097A>T (n.276+16097A>T)
c.*220+6447T>A (n.*220+6447T>A)
c.1063T>A (p.Ser355Thr)
c.1090T>A (p.Ser364Thr)
c.1945T>A (p.Ser649Thr)
c.1759T>A (p.Ser587Thr)
c.1678T>A (p.Ser560Thr)
c.1384T>A (p.Ser462Thr)
c.1765T>A (p.Ser589Thr)
2g.48687778A>CCA426125001GTF2A1L,LHCGR,STON1-GTF2A1Lc.2019T>G (p.Pro673=)
c.*331T>G (n.*331T>G)
c.3441+16098A>C (n.3441+16098A>C)
c.*763T>G (n.*763T>G)
c.1938T>G (p.Pro646=)
c.276+16098A>C (n.276+16098A>C)
c.*220+6446T>G (n.*220+6446T>G)
c.1062T>G (p.Pro354=)
c.1089T>G (p.Pro363=)
c.1944T>G (p.Pro648=)
c.1758T>G (p.Pro586=)
c.1677T>G (p.Pro559=)
c.1383T>G (p.Pro461=)
c.1764T>G (p.Pro588=)
2g.48687778A>GCA426124999GTF2A1L,LHCGR,STON1-GTF2A1Lc.2019T>C (p.Pro673=)
c.*331T>C (n.*331T>C)
c.3441+16098A>G (n.3441+16098A>G)
c.*763T>C (n.*763T>C)
c.1938T>C (p.Pro646=)
c.276+16098A>G (n.276+16098A>G)
c.*220+6446T>C (n.*220+6446T>C)
c.1062T>C (p.Pro354=)
c.1089T>C (p.Pro363=)
c.1944T>C (p.Pro648=)
c.1758T>C (p.Pro586=)
c.1677T>C (p.Pro559=)
c.1383T>C (p.Pro461=)
c.1764T>C (p.Pro588=)
2g.48687778A>TCA426124997GTF2A1L,LHCGR,STON1-GTF2A1Lc.2019T>A (p.Pro673=)
c.*331T>A (n.*331T>A)
c.3441+16098A>T (n.3441+16098A>T)
c.*763T>A (n.*763T>A)
c.1938T>A (p.Pro646=)
c.276+16098A>T (n.276+16098A>T)
c.*220+6446T>A (n.*220+6446T>A)
c.1062T>A (p.Pro354=)
c.1089T>A (p.Pro363=)
c.1944T>A (p.Pro648=)
c.1758T>A (p.Pro586=)
c.1677T>A (p.Pro559=)
c.1383T>A (p.Pro461=)
c.1764T>A (p.Pro588=)
2g.48687779G>ACA346743194GTF2A1L,LHCGR,STON1-GTF2A1Lc.2018C>T (p.Pro673Leu)
c.*330C>T (n.*330C>T)
c.3441+16099G>A (n.3441+16099G>A)
c.*762C>T (n.*762C>T)
c.1937C>T (p.Pro646Leu)
c.276+16099G>A (n.276+16099G>A)
c.*220+6445C>T (n.*220+6445C>T)
c.1061C>T (p.Pro354Leu)
c.1088C>T (p.Pro363Leu)
c.1943C>T (p.Pro648Leu)
c.1757C>T (p.Pro586Leu)
c.1676C>T (p.Pro559Leu)
c.1382C>T (p.Pro461Leu)
c.1763C>T (p.Pro588Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48687779G>CCA346743197GTF2A1L,LHCGR,STON1-GTF2A1Lc.2018C>G (p.Pro673Arg)
c.*330C>G (n.*330C>G)
c.3441+16099G>C (n.3441+16099G>C)
c.*762C>G (n.*762C>G)
c.1937C>G (p.Pro646Arg)
c.276+16099G>C (n.276+16099G>C)
c.*220+6445C>G (n.*220+6445C>G)
c.1061C>G (p.Pro354Arg)
c.1088C>G (p.Pro363Arg)
c.1943C>G (p.Pro648Arg)
c.1757C>G (p.Pro586Arg)
c.1676C>G (p.Pro559Arg)
c.1382C>G (p.Pro461Arg)
c.1763C>G (p.Pro588Arg)
2g.48687779G=CA1248600835GTF2A1L,LHCGR,STON1-GTF2A1Lc.2018C= (p.Pro673=)
c.*330C= (n.*330C=)
c.3441+16099G= (n.3441+16099G=)
c.*762C= (n.*762C=)
c.1937C= (p.Pro646=)
c.276+16099G= (n.276+16099G=)
c.*220+6445C= (n.*220+6445C=)
c.1061C= (p.Pro354=)
c.1088C= (p.Pro363=)
c.1943C= (p.Pro648=)
c.1757C= (p.Pro586=)
c.1676C= (p.Pro559=)
c.1382C= (p.Pro461=)
c.1763C= (p.Pro588=)
2g.48687779G>TCA346743199GTF2A1L,LHCGR,STON1-GTF2A1Lc.2018C>A (p.Pro673His)
c.*330C>A (n.*330C>A)
c.3441+16099G>T (n.3441+16099G>T)
c.*762C>A (n.*762C>A)
c.1937C>A (p.Pro646His)
c.276+16099G>T (n.276+16099G>T)
c.*220+6445C>A (n.*220+6445C>A)
c.1061C>A (p.Pro354His)
c.1088C>A (p.Pro363His)
c.1943C>A (p.Pro648His)
c.1757C>A (p.Pro586His)
c.1676C>A (p.Pro559His)
c.1382C>A (p.Pro461His)
c.1763C>A (p.Pro588His)
2g.48687780G>ACA346743201GTF2A1L,LHCGR,STON1-GTF2A1Lc.2017C>T (p.Pro673Ser)
c.*329C>T (n.*329C>T)
c.3441+16100G>A (n.3441+16100G>A)
c.*761C>T (n.*761C>T)
c.1936C>T (p.Pro646Ser)
c.276+16100G>A (n.276+16100G>A)
c.*220+6444C>T (n.*220+6444C>T)
c.1060C>T (p.Pro354Ser)
c.1087C>T (p.Pro363Ser)
c.1942C>T (p.Pro648Ser)
c.1756C>T (p.Pro586Ser)
c.1675C>T (p.Pro559Ser)
c.1381C>T (p.Pro461Ser)
c.1762C>T (p.Pro588Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48687780G>CCA346743203GTF2A1L,LHCGR,STON1-GTF2A1Lc.2017C>G (p.Pro673Ala)
c.*329C>G (n.*329C>G)
c.3441+16100G>C (n.3441+16100G>C)
c.*761C>G (n.*761C>G)
c.1936C>G (p.Pro646Ala)
c.276+16100G>C (n.276+16100G>C)
c.*220+6444C>G (n.*220+6444C>G)
c.1060C>G (p.Pro354Ala)
c.1087C>G (p.Pro363Ala)
c.1942C>G (p.Pro648Ala)
c.1756C>G (p.Pro586Ala)
c.1675C>G (p.Pro559Ala)
c.1381C>G (p.Pro461Ala)
c.1762C>G (p.Pro588Ala)
2g.48687780G=CA1248600836GTF2A1L,LHCGR,STON1-GTF2A1Lc.2017C= (p.Pro673=)
c.*329C= (n.*329C=)
c.3441+16100G= (n.3441+16100G=)
c.*761C= (n.*761C=)
c.1936C= (p.Pro646=)
c.276+16100G= (n.276+16100G=)
c.*220+6444C= (n.*220+6444C=)
c.1060C= (p.Pro354=)
c.1087C= (p.Pro363=)
c.1942C= (p.Pro648=)
c.1756C= (p.Pro586=)
c.1675C= (p.Pro559=)
c.1381C= (p.Pro461=)
c.1762C= (p.Pro588=)
2g.48687780G>TCA346743206GTF2A1L,LHCGR,STON1-GTF2A1Lc.2017C>A (p.Pro673Thr)
c.*329C>A (n.*329C>A)
c.3441+16100G>T (n.3441+16100G>T)
c.*761C>A (n.*761C>A)
c.1936C>A (p.Pro646Thr)
c.276+16100G>T (n.276+16100G>T)
c.*220+6444C>A (n.*220+6444C>A)
c.1060C>A (p.Pro354Thr)
c.1087C>A (p.Pro363Thr)
c.1942C>A (p.Pro648Thr)
c.1756C>A (p.Pro586Thr)
c.1675C>A (p.Pro559Thr)
c.1381C>A (p.Pro461Thr)
c.1762C>A (p.Pro588Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.48687781C>ACA346743216GTF2A1L,LHCGR,STON1-GTF2A1Lc.2016G>T (p.Lys672Asn)
c.*328G>T (n.*328G>T)
c.3441+16101C>A (n.3441+16101C>A)
c.*760G>T (n.*760G>T)
c.1935G>T (p.Lys645Asn)
c.276+16101C>A (n.276+16101C>A)
c.*220+6443G>T (n.*220+6443G>T)
c.1059G>T (p.Lys353Asn)
c.1086G>T (p.Lys362Asn)
c.1941G>T (p.Lys647Asn)
c.1755G>T (p.Lys585Asn)
c.1674G>T (p.Lys558Asn)
c.1380G>T (p.Lys460Asn)
c.1761G>T (p.Lys587Asn)
2g.48687781C=CA1248600837GTF2A1L,LHCGR,STON1-GTF2A1Lc.2016G= (p.Lys672=)
c.*328G= (n.*328G=)
c.3441+16101C= (n.3441+16101C=)
c.*760G= (n.*760G=)
c.1935G= (p.Lys645=)
c.276+16101C= (n.276+16101C=)
c.*220+6443G= (n.*220+6443G=)
c.1059G= (p.Lys353=)
c.1086G= (p.Lys362=)
c.1941G= (p.Lys647=)
c.1755G= (p.Lys585=)
c.1674G= (p.Lys558=)
c.1380G= (p.Lys460=)
c.1761G= (p.Lys587=)
2g.48687781C>GCA346743218GTF2A1L,LHCGR,STON1-GTF2A1Lc.2016G>C (p.Lys672Asn)
c.*328G>C (n.*328G>C)
c.3441+16101C>G (n.3441+16101C>G)
c.*760G>C (n.*760G>C)
c.1935G>C (p.Lys645Asn)
c.276+16101C>G (n.276+16101C>G)
c.*220+6443G>C (n.*220+6443G>C)
c.1059G>C (p.Lys353Asn)
c.1086G>C (p.Lys362Asn)
c.1941G>C (p.Lys647Asn)
c.1755G>C (p.Lys585Asn)
c.1674G>C (p.Lys558Asn)
c.1380G>C (p.Lys460Asn)
c.1761G>C (p.Lys587Asn)
2g.48687781C>TCA1652947GTF2A1L,LHCGR,STON1-GTF2A1Lc.2016G>A (p.Lys672=)
c.*328G>A (n.*328G>A)
c.3441+16101C>T (n.3441+16101C>T)
c.*760G>A (n.*760G>A)
c.1935G>A (p.Lys645=)
c.276+16101C>T (n.276+16101C>T)
c.*220+6443G>A (n.*220+6443G>A)
c.1059G>A (p.Lys353=)
c.1086G>A (p.Lys362=)
c.1941G>A (p.Lys647=)
c.1755G>A (p.Lys585=)
c.1674G>A (p.Lys558=)
c.1380G>A (p.Lys460=)
c.1761G>A (p.Lys587=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48687782T>ACA346743230GTF2A1L,LHCGR,STON1-GTF2A1Lc.2015A>T (p.Lys672Met)
c.*327A>T (n.*327A>T)
c.3441+16102T>A (n.3441+16102T>A)
c.*759A>T (n.*759A>T)
c.1934A>T (p.Lys645Met)
c.276+16102T>A (n.276+16102T>A)
c.*220+6442A>T (n.*220+6442A>T)
c.1058A>T (p.Lys353Met)
c.1085A>T (p.Lys362Met)
c.1940A>T (p.Lys647Met)
c.1754A>T (p.Lys585Met)
c.1673A>T (p.Lys558Met)
c.1379A>T (p.Lys460Met)
c.1760A>T (p.Lys587Met)
2g.48687782T>CCA346743227GTF2A1L,LHCGR,STON1-GTF2A1Lc.2015A>G (p.Lys672Arg)
c.*327A>G (n.*327A>G)
c.3441+16102T>C (n.3441+16102T>C)
c.*759A>G (n.*759A>G)
c.1934A>G (p.Lys645Arg)
c.276+16102T>C (n.276+16102T>C)
c.*220+6442A>G (n.*220+6442A>G)
c.1058A>G (p.Lys353Arg)
c.1085A>G (p.Lys362Arg)
c.1940A>G (p.Lys647Arg)
c.1754A>G (p.Lys585Arg)
c.1673A>G (p.Lys558Arg)
c.1379A>G (p.Lys460Arg)
c.1760A>G (p.Lys587Arg)
 COSMIC
2g.48687782T>GCA346743225GTF2A1L,LHCGR,STON1-GTF2A1Lc.2015A>C (p.Lys672Thr)
c.*327A>C (n.*327A>C)
c.3441+16102T>G (n.3441+16102T>G)
c.*759A>C (n.*759A>C)
c.1934A>C (p.Lys645Thr)
c.276+16102T>G (n.276+16102T>G)
c.*220+6442A>C (n.*220+6442A>C)
c.1058A>C (p.Lys353Thr)
c.1085A>C (p.Lys362Thr)
c.1940A>C (p.Lys647Thr)
c.1754A>C (p.Lys585Thr)
c.1673A>C (p.Lys558Thr)
c.1379A>C (p.Lys460Thr)
c.1760A>C (p.Lys587Thr)
 dbSNP COSMIC
2g.48687782T=CA1248600838GTF2A1L,LHCGR,STON1-GTF2A1Lc.2015A= (p.Lys672=)
c.*327A= (n.*327A=)
c.3441+16102T= (n.3441+16102T=)
c.*759A= (n.*759A=)
c.1934A= (p.Lys645=)
c.276+16102T= (n.276+16102T=)
c.*220+6442A= (n.*220+6442A=)
c.1058A= (p.Lys353=)
c.1085A= (p.Lys362=)
c.1940A= (p.Lys647=)
c.1754A= (p.Lys585=)
c.1673A= (p.Lys558=)
c.1379A= (p.Lys460=)
c.1760A= (p.Lys587=)
2g.48687783T>ACA346743243GTF2A1L,LHCGR,STON1-GTF2A1Lc.2014A>T (p.Lys672Ter)
c.*326A>T (n.*326A>T)
c.3441+16103T>A (n.3441+16103T>A)
c.*758A>T (n.*758A>T)
c.1933A>T (p.Lys645Ter)
c.276+16103T>A (n.276+16103T>A)
c.*220+6441A>T (n.*220+6441A>T)
c.1057A>T (p.Lys353Ter)
c.1084A>T (p.Lys362Ter)
c.1939A>T (p.Lys647Ter)
c.1753A>T (p.Lys585Ter)
c.1672A>T (p.Lys558Ter)
c.1378A>T (p.Lys460Ter)
c.1759A>T (p.Lys587Ter)
2g.48687783T>CCA346743232GTF2A1L,LHCGR,STON1-GTF2A1Lc.2014A>G (p.Lys672Glu)
c.*326A>G (n.*326A>G)
c.3441+16103T>C (n.3441+16103T>C)
c.*758A>G (n.*758A>G)
c.1933A>G (p.Lys645Glu)
c.276+16103T>C (n.276+16103T>C)
c.*220+6441A>G (n.*220+6441A>G)
c.1057A>G (p.Lys353Glu)
c.1084A>G (p.Lys362Glu)
c.1939A>G (p.Lys647Glu)
c.1753A>G (p.Lys585Glu)
c.1672A>G (p.Lys558Glu)
c.1378A>G (p.Lys460Glu)
c.1759A>G (p.Lys587Glu)
 COSMIC
2g.48687783T>GCA346743235GTF2A1L,LHCGR,STON1-GTF2A1Lc.2014A>C (p.Lys672Gln)
c.*326A>C (n.*326A>C)
c.3441+16103T>G (n.3441+16103T>G)
c.*758A>C (n.*758A>C)
c.1933A>C (p.Lys645Gln)
c.276+16103T>G (n.276+16103T>G)
c.*220+6441A>C (n.*220+6441A>C)
c.1057A>C (p.Lys353Gln)
c.1084A>C (p.Lys362Gln)
c.1939A>C (p.Lys647Gln)
c.1753A>C (p.Lys585Gln)
c.1672A>C (p.Lys558Gln)
c.1378A>C (p.Lys460Gln)
c.1759A>C (p.Lys587Gln)
2g.48687784A=CA1248600839GTF2A1L,LHCGR,STON1-GTF2A1Lc.2013T= (p.Asn671=)
c.*325T= (n.*325T=)
c.3441+16104A= (n.3441+16104A=)
c.*757T= (n.*757T=)
c.1932T= (p.Asn644=)
c.276+16104A= (n.276+16104A=)
c.*220+6440T= (n.*220+6440T=)
c.1056T= (p.Asn352=)
c.1083T= (p.Asn361=)
c.1938T= (p.Asn646=)
c.1752T= (p.Asn584=)
c.1671T= (p.Asn557=)
c.1377T= (p.Asn459=)
c.1758T= (p.Asn586=)
2g.48687784A>CCA346743244GTF2A1L,LHCGR,STON1-GTF2A1Lc.2013T>G (p.Asn671Lys)
c.*325T>G (n.*325T>G)
c.3441+16104A>C (n.3441+16104A>C)
c.*757T>G (n.*757T>G)
c.1932T>G (p.Asn644Lys)
c.276+16104A>C (n.276+16104A>C)
c.*220+6440T>G (n.*220+6440T>G)
c.1056T>G (p.Asn352Lys)
c.1083T>G (p.Asn361Lys)
c.1938T>G (p.Asn646Lys)
c.1752T>G (p.Asn584Lys)
c.1671T>G (p.Asn557Lys)
c.1377T>G (p.Asn459Lys)
c.1758T>G (p.Asn586Lys)
2g.48687784A>GCA426125011GTF2A1L,LHCGR,STON1-GTF2A1Lc.2013T>C (p.Asn671=)
c.*325T>C (n.*325T>C)
c.3441+16104A>G (n.3441+16104A>G)
c.*757T>C (n.*757T>C)
c.1932T>C (p.Asn644=)
c.276+16104A>G (n.276+16104A>G)
c.*220+6440T>C (n.*220+6440T>C)
c.1056T>C (p.Asn352=)
c.1083T>C (p.Asn361=)
c.1938T>C (p.Asn646=)
c.1752T>C (p.Asn584=)
c.1671T>C (p.Asn557=)
c.1377T>C (p.Asn459=)
c.1758T>C (p.Asn586=)
2g.48687784A>TCA346743245GTF2A1L,LHCGR,STON1-GTF2A1Lc.2013T>A (p.Asn671Lys)
c.*325T>A (n.*325T>A)
c.3441+16104A>T (n.3441+16104A>T)
c.*757T>A (n.*757T>A)
c.1932T>A (p.Asn644Lys)
c.276+16104A>T (n.276+16104A>T)
c.*220+6440T>A (n.*220+6440T>A)
c.1056T>A (p.Asn352Lys)
c.1083T>A (p.Asn361Lys)
c.1938T>A (p.Asn646Lys)
c.1752T>A (p.Asn584Lys)
c.1671T>A (p.Asn557Lys)
c.1377T>A (p.Asn459Lys)
c.1758T>A (p.Asn586Lys)
 dbSNP gnomAD v4
2g.48687785T>ACA346743247GTF2A1L,LHCGR,STON1-GTF2A1Lc.2012A>T (p.Asn671Ile)
c.*324A>T (n.*324A>T)
c.3441+16105T>A (n.3441+16105T>A)
c.*756A>T (n.*756A>T)
c.1931A>T (p.Asn644Ile)
c.276+16105T>A (n.276+16105T>A)
c.*220+6439A>T (n.*220+6439A>T)
c.1055A>T (p.Asn352Ile)
c.1082A>T (p.Asn361Ile)
c.1937A>T (p.Asn646Ile)
c.1751A>T (p.Asn584Ile)
c.1670A>T (p.Asn557Ile)
c.1376A>T (p.Asn459Ile)
c.1757A>T (p.Asn586Ile)
2g.48687785T>CCA346743250GTF2A1L,LHCGR,STON1-GTF2A1Lc.2012A>G (p.Asn671Ser)
c.*324A>G (n.*324A>G)
c.3441+16105T>C (n.3441+16105T>C)
c.*756A>G (n.*756A>G)
c.1931A>G (p.Asn644Ser)
c.276+16105T>C (n.276+16105T>C)
c.*220+6439A>G (n.*220+6439A>G)
c.1055A>G (p.Asn352Ser)
c.1082A>G (p.Asn361Ser)
c.1937A>G (p.Asn646Ser)
c.1751A>G (p.Asn584Ser)
c.1670A>G (p.Asn557Ser)
c.1376A>G (p.Asn459Ser)
c.1757A>G (p.Asn586Ser)
 dbSNP gnomAD v4
2g.48687785T>GCA1652948GTF2A1L,LHCGR,STON1-GTF2A1Lc.2012A>C (p.Asn671Thr)
c.*324A>C (n.*324A>C)
c.3441+16105T>G (n.3441+16105T>G)
c.*756A>C (n.*756A>C)
c.1931A>C (p.Asn644Thr)
c.276+16105T>G (n.276+16105T>G)
c.*220+6439A>C (n.*220+6439A>C)
c.1055A>C (p.Asn352Thr)
c.1082A>C (p.Asn361Thr)
c.1937A>C (p.Asn646Thr)
c.1751A>C (p.Asn584Thr)
c.1670A>C (p.Asn557Thr)
c.1376A>C (p.Asn459Thr)
c.1757A>C (p.Asn586Thr)
 dbSNP ExAC gnomAD v2
2g.48687785T=CA1248600840GTF2A1L,LHCGR,STON1-GTF2A1Lc.2012A= (p.Asn671=)
c.*324A= (n.*324A=)
c.3441+16105T= (n.3441+16105T=)
c.*756A= (n.*756A=)
c.1931A= (p.Asn644=)
c.276+16105T= (n.276+16105T=)
c.*220+6439A= (n.*220+6439A=)
c.1055A= (p.Asn352=)
c.1082A= (p.Asn361=)
c.1937A= (p.Asn646=)
c.1751A= (p.Asn584=)
c.1670A= (p.Asn557=)
c.1376A= (p.Asn459=)
c.1757A= (p.Asn586=)
2g.48687786T>ACA346743252GTF2A1L,LHCGR,STON1-GTF2A1Lc.2011A>T (p.Asn671Tyr)
c.*323A>T (n.*323A>T)
c.3441+16106T>A (n.3441+16106T>A)
c.*755A>T (n.*755A>T)
c.1930A>T (p.Asn644Tyr)
c.276+16106T>A (n.276+16106T>A)
c.*220+6438A>T (n.*220+6438A>T)
c.1054A>T (p.Asn352Tyr)
c.1081A>T (p.Asn361Tyr)
c.1936A>T (p.Asn646Tyr)
c.1750A>T (p.Asn584Tyr)
c.1669A>T (p.Asn557Tyr)
c.1375A>T (p.Asn459Tyr)
c.1756A>T (p.Asn586Tyr)
2g.48687786T>CCA1652949GTF2A1L,LHCGR,STON1-GTF2A1Lc.2011A>G (p.Asn671Asp)
c.*323A>G (n.*323A>G)
c.3441+16106T>C (n.3441+16106T>C)
c.*755A>G (n.*755A>G)
c.1930A>G (p.Asn644Asp)
c.276+16106T>C (n.276+16106T>C)
c.*220+6438A>G (n.*220+6438A>G)
c.1054A>G (p.Asn352Asp)
c.1081A>G (p.Asn361Asp)
c.1936A>G (p.Asn646Asp)
c.1750A>G (p.Asn584Asp)
c.1669A>G (p.Asn557Asp)
c.1375A>G (p.Asn459Asp)
c.1756A>G (p.Asn586Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48687786T>GCA346743253GTF2A1L,LHCGR,STON1-GTF2A1Lc.2011A>C (p.Asn671His)
c.*323A>C (n.*323A>C)
c.3441+16106T>G (n.3441+16106T>G)
c.*755A>C (n.*755A>C)
c.1930A>C (p.Asn644His)
c.276+16106T>G (n.276+16106T>G)
c.*220+6438A>C (n.*220+6438A>C)
c.1054A>C (p.Asn352His)
c.1081A>C (p.Asn361His)
c.1936A>C (p.Asn646His)
c.1750A>C (p.Asn584His)
c.1669A>C (p.Asn557His)
c.1375A>C (p.Asn459His)
c.1756A>C (p.Asn586His)
2g.48687786T=CA1248600841GTF2A1L,LHCGR,STON1-GTF2A1Lc.2011A= (p.Asn671=)
c.*323A= (n.*323A=)
c.3441+16106T= (n.3441+16106T=)
c.*755A= (n.*755A=)
c.1930A= (p.Asn644=)
c.276+16106T= (n.276+16106T=)
c.*220+6438A= (n.*220+6438A=)
c.1054A= (p.Asn352=)
c.1081A= (p.Asn361=)
c.1936A= (p.Asn646=)
c.1750A= (p.Asn584=)
c.1669A= (p.Asn557=)
c.1375A= (p.Asn459=)
c.1756A= (p.Asn586=)
2g.48687787T>ACA426125022GTF2A1L,LHCGR,STON1-GTF2A1Lc.2010A>T (p.Ser670=)
c.*322A>T (n.*322A>T)
c.3441+16107T>A (n.3441+16107T>A)
c.*754A>T (n.*754A>T)
c.1929A>T (p.Ser643=)
c.276+16107T>A (n.276+16107T>A)
c.*220+6437A>T (n.*220+6437A>T)
c.1053A>T (p.Ser351=)
c.1080A>T (p.Ser360=)
c.1935A>T (p.Ser645=)
c.1749A>T (p.Ser583=)
c.1668A>T (p.Ser556=)
c.1374A>T (p.Ser458=)
c.1755A>T (p.Ser585=)
2g.48687787T>CCA426125023GTF2A1L,LHCGR,STON1-GTF2A1Lc.2010A>G (p.Ser670=)
c.*322A>G (n.*322A>G)
c.3441+16107T>C (n.3441+16107T>C)
c.*754A>G (n.*754A>G)
c.1929A>G (p.Ser643=)
c.276+16107T>C (n.276+16107T>C)
c.*220+6437A>G (n.*220+6437A>G)
c.1053A>G (p.Ser351=)
c.1080A>G (p.Ser360=)
c.1935A>G (p.Ser645=)
c.1749A>G (p.Ser583=)
c.1668A>G (p.Ser556=)
c.1374A>G (p.Ser458=)
c.1755A>G (p.Ser585=)
 gnomAD v4
2g.48687787T>GCA426125024GTF2A1L,LHCGR,STON1-GTF2A1Lc.2010A>C (p.Ser670=)
c.*322A>C (n.*322A>C)
c.3441+16107T>G (n.3441+16107T>G)
c.*754A>C (n.*754A>C)
c.1929A>C (p.Ser643=)
c.276+16107T>G (n.276+16107T>G)
c.*220+6437A>C (n.*220+6437A>C)
c.1053A>C (p.Ser351=)
c.1080A>C (p.Ser360=)
c.1935A>C (p.Ser645=)
c.1749A>C (p.Ser583=)
c.1668A>C (p.Ser556=)
c.1374A>C (p.Ser458=)
c.1755A>C (p.Ser585=)
2g.48687788G>ACA346743254GTF2A1L,LHCGR,STON1-GTF2A1Lc.2009C>T (p.Ser670Leu)
c.*321C>T (n.*321C>T)
c.3441+16108G>A (n.3441+16108G>A)
c.*753C>T (n.*753C>T)
c.1928C>T (p.Ser643Leu)
c.276+16108G>A (n.276+16108G>A)
c.*220+6436C>T (n.*220+6436C>T)
c.1052C>T (p.Ser351Leu)
c.1079C>T (p.Ser360Leu)
c.1934C>T (p.Ser645Leu)
c.1748C>T (p.Ser583Leu)
c.1667C>T (p.Ser556Leu)
c.1373C>T (p.Ser458Leu)
c.1754C>T (p.Ser585Leu)
2g.48687788G>CCA346743256GTF2A1L,LHCGR,STON1-GTF2A1Lc.2009C>G (p.Ser670Ter)
c.*321C>G (n.*321C>G)
c.3441+16108G>C (n.3441+16108G>C)
c.*753C>G (n.*753C>G)
c.1928C>G (p.Ser643Ter)
c.276+16108G>C (n.276+16108G>C)
c.*220+6436C>G (n.*220+6436C>G)
c.1052C>G (p.Ser351Ter)
c.1079C>G (p.Ser360Ter)
c.1934C>G (p.Ser645Ter)
c.1748C>G (p.Ser583Ter)
c.1667C>G (p.Ser556Ter)
c.1373C>G (p.Ser458Ter)
c.1754C>G (p.Ser585Ter)
2g.48687788G>TCA346743258GTF2A1L,LHCGR,STON1-GTF2A1Lc.2009C>A (p.Ser670Ter)
c.*321C>A (n.*321C>A)
c.3441+16108G>T (n.3441+16108G>T)
c.*753C>A (n.*753C>A)
c.1928C>A (p.Ser643Ter)
c.276+16108G>T (n.276+16108G>T)
c.*220+6436C>A (n.*220+6436C>A)
c.1052C>A (p.Ser351Ter)
c.1079C>A (p.Ser360Ter)
c.1934C>A (p.Ser645Ter)
c.1748C>A (p.Ser583Ter)
c.1667C>A (p.Ser556Ter)
c.1373C>A (p.Ser458Ter)
c.1754C>A (p.Ser585Ter)
2g.48687789A>CCA346743265GTF2A1L,LHCGR,STON1-GTF2A1Lc.2008T>G (p.Ser670Ala)
c.*320T>G (n.*320T>G)
c.3441+16109A>C (n.3441+16109A>C)
c.*752T>G (n.*752T>G)
c.1927T>G (p.Ser643Ala)
c.276+16109A>C (n.276+16109A>C)
c.*220+6435T>G (n.*220+6435T>G)
c.1051T>G (p.Ser351Ala)
c.1078T>G (p.Ser360Ala)
c.1933T>G (p.Ser645Ala)
c.1747T>G (p.Ser583Ala)
c.1666T>G (p.Ser556Ala)
c.1372T>G (p.Ser458Ala)
c.1753T>G (p.Ser585Ala)
2g.48687789A>GCA346743264GTF2A1L,LHCGR,STON1-GTF2A1Lc.2008T>C (p.Ser670Pro)
c.*320T>C (n.*320T>C)
c.3441+16109A>G (n.3441+16109A>G)
c.*752T>C (n.*752T>C)
c.1927T>C (p.Ser643Pro)
c.276+16109A>G (n.276+16109A>G)
c.*220+6435T>C (n.*220+6435T>C)
c.1051T>C (p.Ser351Pro)
c.1078T>C (p.Ser360Pro)
c.1933T>C (p.Ser645Pro)
c.1747T>C (p.Ser583Pro)
c.1666T>C (p.Ser556Pro)
c.1372T>C (p.Ser458Pro)
c.1753T>C (p.Ser585Pro)
 gnomAD v4
2g.48687789A>TCA346743260GTF2A1L,LHCGR,STON1-GTF2A1Lc.2008T>A (p.Ser670Thr)
c.*320T>A (n.*320T>A)
c.3441+16109A>T (n.3441+16109A>T)
c.*752T>A (n.*752T>A)
c.1927T>A (p.Ser643Thr)
c.276+16109A>T (n.276+16109A>T)
c.*220+6435T>A (n.*220+6435T>A)
c.1051T>A (p.Ser351Thr)
c.1078T>A (p.Ser360Thr)
c.1933T>A (p.Ser645Thr)
c.1747T>A (p.Ser583Thr)
c.1666T>A (p.Ser556Thr)
c.1372T>A (p.Ser458Thr)
c.1753T>A (p.Ser585Thr)
2g.48687790T>ACA426125032GTF2A1L,LHCGR,STON1-GTF2A1Lc.2007A>T (p.Gly669=)
c.*319A>T (n.*319A>T)
c.3441+16110T>A (n.3441+16110T>A)
c.*751A>T (n.*751A>T)
c.1926A>T (p.Gly642=)
c.276+16110T>A (n.276+16110T>A)
c.*220+6434A>T (n.*220+6434A>T)
c.1050A>T (p.Gly350=)
c.1077A>T (p.Gly359=)
c.1932A>T (p.Gly644=)
c.1746A>T (p.Gly582=)
c.1665A>T (p.Gly555=)
c.1371A>T (p.Gly457=)
c.1752A>T (p.Gly584=)
2g.48687790T>CCA426125033GTF2A1L,LHCGR,STON1-GTF2A1Lc.2007A>G (p.Gly669=)
c.*319A>G (n.*319A>G)
c.3441+16110T>C (n.3441+16110T>C)
c.*751A>G (n.*751A>G)
c.1926A>G (p.Gly642=)
c.276+16110T>C (n.276+16110T>C)
c.*220+6434A>G (n.*220+6434A>G)
c.1050A>G (p.Gly350=)
c.1077A>G (p.Gly359=)
c.1932A>G (p.Gly644=)
c.1746A>G (p.Gly582=)
c.1665A>G (p.Gly555=)
c.1371A>G (p.Gly457=)
c.1752A>G (p.Gly584=)
2g.48687790T>GCA426125030GTF2A1L,LHCGR,STON1-GTF2A1Lc.2007A>C (p.Gly669=)
c.*319A>C (n.*319A>C)
c.3441+16110T>G (n.3441+16110T>G)
c.*751A>C (n.*751A>C)
c.1926A>C (p.Gly642=)
c.276+16110T>G (n.276+16110T>G)
c.*220+6434A>C (n.*220+6434A>C)
c.1050A>C (p.Gly350=)
c.1077A>C (p.Gly359=)
c.1932A>C (p.Gly644=)
c.1746A>C (p.Gly582=)
c.1665A>C (p.Gly555=)
c.1371A>C (p.Gly457=)
c.1752A>C (p.Gly584=)
2g.48687791C>ACA346743266GTF2A1L,LHCGR,STON1-GTF2A1Lc.2006G>T (p.Gly669Val)
c.*318G>T (n.*318G>T)
c.3441+16111C>A (n.3441+16111C>A)
c.*750G>T (n.*750G>T)
c.1925G>T (p.Gly642Val)
c.276+16111C>A (n.276+16111C>A)
c.*220+6433G>T (n.*220+6433G>T)
c.1049G>T (p.Gly350Val)
c.1076G>T (p.Gly359Val)
c.1931G>T (p.Gly644Val)
c.1745G>T (p.Gly582Val)
c.1664G>T (p.Gly555Val)
c.1370G>T (p.Gly457Val)
c.1751G>T (p.Gly584Val)
 gnomAD v4
2g.48687791C>GCA346743267GTF2A1L,LHCGR,STON1-GTF2A1Lc.2006G>C (p.Gly669Ala)
c.*318G>C (n.*318G>C)
c.3441+16111C>G (n.3441+16111C>G)
c.*750G>C (n.*750G>C)
c.1925G>C (p.Gly642Ala)
c.276+16111C>G (n.276+16111C>G)
c.*220+6433G>C (n.*220+6433G>C)
c.1049G>C (p.Gly350Ala)
c.1076G>C (p.Gly359Ala)
c.1931G>C (p.Gly644Ala)
c.1745G>C (p.Gly582Ala)
c.1664G>C (p.Gly555Ala)
c.1370G>C (p.Gly457Ala)
c.1751G>C (p.Gly584Ala)
 gnomAD v4
2g.48687791C>TCA346743268GTF2A1L,LHCGR,STON1-GTF2A1Lc.2006G>A (p.Gly669Glu)
c.*318G>A (n.*318G>A)
c.3441+16111C>T (n.3441+16111C>T)
c.*750G>A (n.*750G>A)
c.1925G>A (p.Gly642Glu)
c.276+16111C>T (n.276+16111C>T)
c.*220+6433G>A (n.*220+6433G>A)
c.1049G>A (p.Gly350Glu)
c.1076G>A (p.Gly359Glu)
c.1931G>A (p.Gly644Glu)
c.1745G>A (p.Gly582Glu)
c.1664G>A (p.Gly555Glu)
c.1370G>A (p.Gly457Glu)
c.1751G>A (p.Gly584Glu)
 gnomAD v4
2g.48687792C>ACA346743269GTF2A1L,LHCGR,STON1-GTF2A1Lc.2005G>T (p.Gly669Ter)
c.*317G>T (n.*317G>T)
c.3441+16112C>A (n.3441+16112C>A)
c.*749G>T (n.*749G>T)
c.1924G>T (p.Gly642Ter)
c.276+16112C>A (n.276+16112C>A)
c.*220+6432G>T (n.*220+6432G>T)
c.1048G>T (p.Gly350Ter)
c.1075G>T (p.Gly359Ter)
c.1930G>T (p.Gly644Ter)
c.1744G>T (p.Gly582Ter)
c.1663G>T (p.Gly555Ter)
c.1369G>T (p.Gly457Ter)
c.1750G>T (p.Gly584Ter)
2g.48687792C=CA1248600842GTF2A1L,LHCGR,STON1-GTF2A1Lc.2005G= (p.Gly669=)
c.*317G= (n.*317G=)
c.3441+16112C= (n.3441+16112C=)
c.*749G= (n.*749G=)
c.1924G= (p.Gly642=)
c.276+16112C= (n.276+16112C=)
c.*220+6432G= (n.*220+6432G=)
c.1048G= (p.Gly350=)
c.1075G= (p.Gly359=)
c.1930G= (p.Gly644=)
c.1744G= (p.Gly582=)
c.1663G= (p.Gly555=)
c.1369G= (p.Gly457=)
c.1750G= (p.Gly584=)
2g.48687792C>GCA346743270GTF2A1L,LHCGR,STON1-GTF2A1Lc.2005G>C (p.Gly669Arg)
c.*317G>C (n.*317G>C)
c.3441+16112C>G (n.3441+16112C>G)
c.*749G>C (n.*749G>C)
c.1924G>C (p.Gly642Arg)
c.276+16112C>G (n.276+16112C>G)
c.*220+6432G>C (n.*220+6432G>C)
c.1048G>C (p.Gly350Arg)
c.1075G>C (p.Gly359Arg)
c.1930G>C (p.Gly644Arg)
c.1744G>C (p.Gly582Arg)
c.1663G>C (p.Gly555Arg)
c.1369G>C (p.Gly457Arg)
c.1750G>C (p.Gly584Arg)
2g.48687792C>TCA346743272GTF2A1L,LHCGR,STON1-GTF2A1Lc.2005G>A (p.Gly669Arg)
c.*317G>A (n.*317G>A)
c.3441+16112C>T (n.3441+16112C>T)
c.*749G>A (n.*749G>A)
c.1924G>A (p.Gly642Arg)
c.276+16112C>T (n.276+16112C>T)
c.*220+6432G>A (n.*220+6432G>A)
c.1048G>A (p.Gly350Arg)
c.1075G>A (p.Gly359Arg)
c.1930G>A (p.Gly644Arg)
c.1744G>A (p.Gly582Arg)
c.1663G>A (p.Gly555Arg)
c.1369G>A (p.Gly457Arg)
c.1750G>A (p.Gly584Arg)
 dbSNP
2g.48687793A>CCA426125042GTF2A1L,LHCGR,STON1-GTF2A1Lc.2004T>G (p.Thr668=)
c.*316T>G (n.*316T>G)
c.3441+16113A>C (n.3441+16113A>C)
c.*748T>G (n.*748T>G)
c.1923T>G (p.Thr641=)
c.276+16113A>C (n.276+16113A>C)
c.*220+6431T>G (n.*220+6431T>G)
c.1047T>G (p.Thr349=)
c.1074T>G (p.Thr358=)
c.1929T>G (p.Thr643=)
c.1743T>G (p.Thr581=)
c.1662T>G (p.Thr554=)
c.1368T>G (p.Thr456=)
c.1749T>G (p.Thr583=)
2g.48687793A>GCA426125043GTF2A1L,LHCGR,STON1-GTF2A1Lc.2004T>C (p.Thr668=)
c.*316T>C (n.*316T>C)
c.3441+16113A>G (n.3441+16113A>G)
c.*748T>C (n.*748T>C)
c.1923T>C (p.Thr641=)
c.276+16113A>G (n.276+16113A>G)
c.*220+6431T>C (n.*220+6431T>C)
c.1047T>C (p.Thr349=)
c.1074T>C (p.Thr358=)
c.1929T>C (p.Thr643=)
c.1743T>C (p.Thr581=)
c.1662T>C (p.Thr554=)
c.1368T>C (p.Thr456=)
c.1749T>C (p.Thr583=)
 gnomAD v4
2g.48687793A>TCA426125045GTF2A1L,LHCGR,STON1-GTF2A1Lc.2004T>A (p.Thr668=)
c.*316T>A (n.*316T>A)
c.3441+16113A>T (n.3441+16113A>T)
c.*748T>A (n.*748T>A)
c.1923T>A (p.Thr641=)
c.276+16113A>T (n.276+16113A>T)
c.*220+6431T>A (n.*220+6431T>A)
c.1047T>A (p.Thr349=)
c.1074T>A (p.Thr358=)
c.1929T>A (p.Thr643=)
c.1743T>A (p.Thr581=)
c.1662T>A (p.Thr554=)
c.1368T>A (p.Thr456=)
c.1749T>A (p.Thr583=)
2g.48687794G>ACA346743274GTF2A1L,LHCGR,STON1-GTF2A1Lc.2003C>T (p.Thr668Ile)
c.*315C>T (n.*315C>T)
c.3441+16114G>A (n.3441+16114G>A)
c.*747C>T (n.*747C>T)
c.1922C>T (p.Thr641Ile)
c.276+16114G>A (n.276+16114G>A)
c.*220+6430C>T (n.*220+6430C>T)
c.1046C>T (p.Thr349Ile)
c.1073C>T (p.Thr358Ile)
c.1928C>T (p.Thr643Ile)
c.1742C>T (p.Thr581Ile)
c.1661C>T (p.Thr554Ile)
c.1367C>T (p.Thr456Ile)
c.1748C>T (p.Thr583Ile)
 gnomAD v4
2g.48687794G>CCA346743277GTF2A1L,LHCGR,STON1-GTF2A1Lc.2003C>G (p.Thr668Ser)
c.*315C>G (n.*315C>G)
c.3441+16114G>C (n.3441+16114G>C)
c.*747C>G (n.*747C>G)
c.1922C>G (p.Thr641Ser)
c.276+16114G>C (n.276+16114G>C)
c.*220+6430C>G (n.*220+6430C>G)
c.1046C>G (p.Thr349Ser)
c.1073C>G (p.Thr358Ser)
c.1928C>G (p.Thr643Ser)
c.1742C>G (p.Thr581Ser)
c.1661C>G (p.Thr554Ser)
c.1367C>G (p.Thr456Ser)
c.1748C>G (p.Thr583Ser)
2g.48687794G>TCA346743281GTF2A1L,LHCGR,STON1-GTF2A1Lc.2003C>A (p.Thr668Asn)
c.*315C>A (n.*315C>A)
c.3441+16114G>T (n.3441+16114G>T)
c.*747C>A (n.*747C>A)
c.1922C>A (p.Thr641Asn)
c.276+16114G>T (n.276+16114G>T)
c.*220+6430C>A (n.*220+6430C>A)
c.1046C>A (p.Thr349Asn)
c.1073C>A (p.Thr358Asn)
c.1928C>A (p.Thr643Asn)
c.1742C>A (p.Thr581Asn)
c.1661C>A (p.Thr554Asn)
c.1367C>A (p.Thr456Asn)
c.1748C>A (p.Thr583Asn)
2g.48687795T>ACA346743287GTF2A1L,LHCGR,STON1-GTF2A1Lc.2002A>T (p.Thr668Ser)
c.*314A>T (n.*314A>T)
c.3441+16115T>A (n.3441+16115T>A)
c.*746A>T (n.*746A>T)
c.1921A>T (p.Thr641Ser)
c.276+16115T>A (n.276+16115T>A)
c.*220+6429A>T (n.*220+6429A>T)
c.1045A>T (p.Thr349Ser)
c.1072A>T (p.Thr358Ser)
c.1927A>T (p.Thr643Ser)
c.1741A>T (p.Thr581Ser)
c.1660A>T (p.Thr554Ser)
c.1366A>T (p.Thr456Ser)
c.1747A>T (p.Thr583Ser)
2g.48687795T>CCA346743289GTF2A1L,LHCGR,STON1-GTF2A1Lc.2002A>G (p.Thr668Ala)
c.*314A>G (n.*314A>G)
c.3441+16115T>C (n.3441+16115T>C)
c.*746A>G (n.*746A>G)
c.1921A>G (p.Thr641Ala)
c.276+16115T>C (n.276+16115T>C)
c.*220+6429A>G (n.*220+6429A>G)
c.1045A>G (p.Thr349Ala)
c.1072A>G (p.Thr358Ala)
c.1927A>G (p.Thr643Ala)
c.1741A>G (p.Thr581Ala)
c.1660A>G (p.Thr554Ala)
c.1366A>G (p.Thr456Ala)
c.1747A>G (p.Thr583Ala)
 gnomAD v4
2g.48687795T>GCA1652950GTF2A1L,LHCGR,STON1-GTF2A1Lc.2002A>C (p.Thr668Pro)
c.*314A>C (n.*314A>C)
c.3441+16115T>G (n.3441+16115T>G)
c.*746A>C (n.*746A>C)
c.1921A>C (p.Thr641Pro)
c.276+16115T>G (n.276+16115T>G)
c.*220+6429A>C (n.*220+6429A>C)
c.1045A>C (p.Thr349Pro)
c.1072A>C (p.Thr358Pro)
c.1927A>C (p.Thr643Pro)
c.1741A>C (p.Thr581Pro)
c.1660A>C (p.Thr554Pro)
c.1366A>C (p.Thr456Pro)
c.1747A>C (p.Thr583Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48687795T=CA1248600843GTF2A1L,LHCGR,STON1-GTF2A1Lc.2002A= (p.Thr668=)
c.*314A= (n.*314A=)
c.3441+16115T= (n.3441+16115T=)
c.*746A= (n.*746A=)
c.1921A= (p.Thr641=)
c.276+16115T= (n.276+16115T=)
c.*220+6429A= (n.*220+6429A=)
c.1045A= (p.Thr349=)
c.1072A= (p.Thr358=)
c.1927A= (p.Thr643=)
c.1741A= (p.Thr581=)
c.1660A= (p.Thr554=)
c.1366A= (p.Thr456=)
c.1747A= (p.Thr583=)
2g.48687796G>ACA426125049GTF2A1L,LHCGR,STON1-GTF2A1Lc.2001C>T (p.Phe667=)
c.*313C>T (n.*313C>T)
c.3441+16116G>A (n.3441+16116G>A)
c.*745C>T (n.*745C>T)
c.1920C>T (p.Phe640=)
c.276+16116G>A (n.276+16116G>A)
c.*220+6428C>T (n.*220+6428C>T)
c.1044C>T (p.Phe348=)
c.1071C>T (p.Phe357=)
c.1926C>T (p.Phe642=)
c.1740C>T (p.Phe580=)
c.1659C>T (p.Phe553=)
c.1365C>T (p.Phe455=)
c.1746C>T (p.Phe582=)
 dbSNP gnomAD v2 gnomAD v4
2g.48687796G>CCA346743296GTF2A1L,LHCGR,STON1-GTF2A1Lc.2001C>G (p.Phe667Leu)
c.*313C>G (n.*313C>G)
c.3441+16116G>C (n.3441+16116G>C)
c.*745C>G (n.*745C>G)
c.1920C>G (p.Phe640Leu)
c.276+16116G>C (n.276+16116G>C)
c.*220+6428C>G (n.*220+6428C>G)
c.1044C>G (p.Phe348Leu)
c.1071C>G (p.Phe357Leu)
c.1926C>G (p.Phe642Leu)
c.1740C>G (p.Phe580Leu)
c.1659C>G (p.Phe553Leu)
c.1365C>G (p.Phe455Leu)
c.1746C>G (p.Phe582Leu)
2g.48687796G=CA1248600844GTF2A1L,LHCGR,STON1-GTF2A1Lc.2001C= (p.Phe667=)
c.*313C= (n.*313C=)
c.3441+16116G= (n.3441+16116G=)
c.*745C= (n.*745C=)
c.1920C= (p.Phe640=)
c.276+16116G= (n.276+16116G=)
c.*220+6428C= (n.*220+6428C=)
c.1044C= (p.Phe348=)
c.1071C= (p.Phe357=)
c.1926C= (p.Phe642=)
c.1740C= (p.Phe580=)
c.1659C= (p.Phe553=)
c.1365C= (p.Phe455=)
c.1746C= (p.Phe582=)
2g.48687796G>TCA346743299GTF2A1L,LHCGR,STON1-GTF2A1Lc.2001C>A (p.Phe667Leu)
c.*313C>A (n.*313C>A)
c.3441+16116G>T (n.3441+16116G>T)
c.*745C>A (n.*745C>A)
c.1920C>A (p.Phe640Leu)
c.276+16116G>T (n.276+16116G>T)
c.*220+6428C>A (n.*220+6428C>A)
c.1044C>A (p.Phe348Leu)
c.1071C>A (p.Phe357Leu)
c.1926C>A (p.Phe642Leu)
c.1740C>A (p.Phe580Leu)
c.1659C>A (p.Phe553Leu)
c.1365C>A (p.Phe455Leu)
c.1746C>A (p.Phe582Leu)
2g.48687797A>CCA346743302GTF2A1L,LHCGR,STON1-GTF2A1Lc.2000T>G (p.Phe667Cys)
c.*312T>G (n.*312T>G)
c.3441+16117A>C (n.3441+16117A>C)
c.*744T>G (n.*744T>G)
c.1919T>G (p.Phe640Cys)
c.276+16117A>C (n.276+16117A>C)
c.*220+6427T>G (n.*220+6427T>G)
c.1043T>G (p.Phe348Cys)
c.1070T>G (p.Phe357Cys)
c.1925T>G (p.Phe642Cys)
c.1739T>G (p.Phe580Cys)
c.1658T>G (p.Phe553Cys)
c.1364T>G (p.Phe455Cys)
c.1745T>G (p.Phe582Cys)
2g.48687797A>GCA346743303GTF2A1L,LHCGR,STON1-GTF2A1Lc.2000T>C (p.Phe667Ser)
c.*312T>C (n.*312T>C)
c.3441+16117A>G (n.3441+16117A>G)
c.*744T>C (n.*744T>C)
c.1919T>C (p.Phe640Ser)
c.276+16117A>G (n.276+16117A>G)
c.*220+6427T>C (n.*220+6427T>C)
c.1043T>C (p.Phe348Ser)
c.1070T>C (p.Phe357Ser)
c.1925T>C (p.Phe642Ser)
c.1739T>C (p.Phe580Ser)
c.1658T>C (p.Phe553Ser)
c.1364T>C (p.Phe455Ser)
c.1745T>C (p.Phe582Ser)
2g.48687797A>TCA346743300GTF2A1L,LHCGR,STON1-GTF2A1Lc.2000T>A (p.Phe667Tyr)
c.*312T>A (n.*312T>A)
c.3441+16117A>T (n.3441+16117A>T)
c.*744T>A (n.*744T>A)
c.1919T>A (p.Phe640Tyr)
c.276+16117A>T (n.276+16117A>T)
c.*220+6427T>A (n.*220+6427T>A)
c.1043T>A (p.Phe348Tyr)
c.1070T>A (p.Phe357Tyr)
c.1925T>A (p.Phe642Tyr)
c.1739T>A (p.Phe580Tyr)
c.1658T>A (p.Phe553Tyr)
c.1364T>A (p.Phe455Tyr)
c.1745T>A (p.Phe582Tyr)
2g.48687798A=CA1248600845GTF2A1L,LHCGR,STON1-GTF2A1Lc.1999T= (p.Phe667=)
c.*311T= (n.*311T=)
c.3441+16118A= (n.3441+16118A=)
c.*743T= (n.*743T=)
c.1918T= (p.Phe640=)
c.276+16118A= (n.276+16118A=)
c.*220+6426T= (n.*220+6426T=)
c.1042T= (p.Phe348=)
c.1069T= (p.Phe357=)
c.1924T= (p.Phe642=)
c.1738T= (p.Phe580=)
c.1657T= (p.Phe553=)
c.1363T= (p.Phe455=)
c.1744T= (p.Phe582=)
2g.48687798A>CCA346743305GTF2A1L,LHCGR,STON1-GTF2A1Lc.1999T>G (p.Phe667Val)
c.*311T>G (n.*311T>G)
c.3441+16118A>C (n.3441+16118A>C)
c.*743T>G (n.*743T>G)
c.1918T>G (p.Phe640Val)
c.276+16118A>C (n.276+16118A>C)
c.*220+6426T>G (n.*220+6426T>G)
c.1042T>G (p.Phe348Val)
c.1069T>G (p.Phe357Val)
c.1924T>G (p.Phe642Val)
c.1738T>G (p.Phe580Val)
c.1657T>G (p.Phe553Val)
c.1363T>G (p.Phe455Val)
c.1744T>G (p.Phe582Val)
2g.48687798A>GCA1652951GTF2A1L,LHCGR,STON1-GTF2A1Lc.1999T>C (p.Phe667Leu)
c.*311T>C (n.*311T>C)
c.3441+16118A>G (n.3441+16118A>G)
c.*743T>C (n.*743T>C)
c.1918T>C (p.Phe640Leu)
c.276+16118A>G (n.276+16118A>G)
c.*220+6426T>C (n.*220+6426T>C)
c.1042T>C (p.Phe348Leu)
c.1069T>C (p.Phe357Leu)
c.1924T>C (p.Phe642Leu)
c.1738T>C (p.Phe580Leu)
c.1657T>C (p.Phe553Leu)
c.1363T>C (p.Phe455Leu)
c.1744T>C (p.Phe582Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48687798A>TCA346743309GTF2A1L,LHCGR,STON1-GTF2A1Lc.1999T>A (p.Phe667Ile)
c.*311T>A (n.*311T>A)
c.3441+16118A>T (n.3441+16118A>T)
c.*743T>A (n.*743T>A)
c.1918T>A (p.Phe640Ile)
c.276+16118A>T (n.276+16118A>T)
c.*220+6426T>A (n.*220+6426T>A)
c.1042T>A (p.Phe348Ile)
c.1069T>A (p.Phe357Ile)
c.1924T>A (p.Phe642Ile)
c.1738T>A (p.Phe580Ile)
c.1657T>A (p.Phe553Ile)
c.1363T>A (p.Phe455Ile)
c.1744T>A (p.Phe582Ile)
2g.48687799G>ACA426125055GTF2A1L,LHCGR,STON1-GTF2A1Lc.1998C>T (p.Gly666=)
c.*310C>T (n.*310C>T)
c.3441+16119G>A (n.3441+16119G>A)
c.*742C>T (n.*742C>T)
c.1917C>T (p.Gly639=)
c.276+16119G>A (n.276+16119G>A)
c.*220+6425C>T (n.*220+6425C>T)
c.1041C>T (p.Gly347=)
c.1068C>T (p.Gly356=)
c.1923C>T (p.Gly641=)
c.1737C>T (p.Gly579=)
c.1656C>T (p.Gly552=)
c.1362C>T (p.Gly454=)
c.1743C>T (p.Gly581=)
 dbSNP
2g.48687799G>CCA426125056GTF2A1L,LHCGR,STON1-GTF2A1Lc.1998C>G (p.Gly666=)
c.*310C>G (n.*310C>G)
c.3441+16119G>C (n.3441+16119G>C)
c.*742C>G (n.*742C>G)
c.1917C>G (p.Gly639=)
c.276+16119G>C (n.276+16119G>C)
c.*220+6425C>G (n.*220+6425C>G)
c.1041C>G (p.Gly347=)
c.1068C>G (p.Gly356=)
c.1923C>G (p.Gly641=)
c.1737C>G (p.Gly579=)
c.1656C>G (p.Gly552=)
c.1362C>G (p.Gly454=)
c.1743C>G (p.Gly581=)
2g.48687799G=CA1248600846GTF2A1L,LHCGR,STON1-GTF2A1Lc.1998C= (p.Gly666=)
c.*310C= (n.*310C=)
c.3441+16119G= (n.3441+16119G=)
c.*742C= (n.*742C=)
c.1917C= (p.Gly639=)
c.276+16119G= (n.276+16119G=)
c.*220+6425C= (n.*220+6425C=)
c.1041C= (p.Gly347=)
c.1068C= (p.Gly356=)
c.1923C= (p.Gly641=)
c.1737C= (p.Gly579=)
c.1656C= (p.Gly552=)
c.1362C= (p.Gly454=)
c.1743C= (p.Gly581=)
2g.48687799G>TCA426125057GTF2A1L,LHCGR,STON1-GTF2A1Lc.1998C>A (p.Gly666=)
c.*310C>A (n.*310C>A)
c.3441+16119G>T (n.3441+16119G>T)
c.*742C>A (n.*742C>A)
c.1917C>A (p.Gly639=)
c.276+16119G>T (n.276+16119G>T)
c.*220+6425C>A (n.*220+6425C>A)
c.1041C>A (p.Gly347=)
c.1068C>A (p.Gly356=)
c.1923C>A (p.Gly641=)
c.1737C>A (p.Gly579=)
c.1656C>A (p.Gly552=)
c.1362C>A (p.Gly454=)
c.1743C>A (p.Gly581=)
2g.48687800C>ACA346743317GTF2A1L,LHCGR,STON1-GTF2A1Lc.1997G>T (p.Gly666Val)
c.*309G>T (n.*309G>T)
c.3441+16120C>A (n.3441+16120C>A)
c.*741G>T (n.*741G>T)
c.1916G>T (p.Gly639Val)
c.276+16120C>A (n.276+16120C>A)
c.*220+6424G>T (n.*220+6424G>T)
c.1040G>T (p.Gly347Val)
c.1067G>T (p.Gly356Val)
c.1922G>T (p.Gly641Val)
c.1736G>T (p.Gly579Val)
c.1655G>T (p.Gly552Val)
c.1361G>T (p.Gly454Val)
c.1742G>T (p.Gly581Val)
 dbSNP gnomAD v4
2g.48687800C=CA1248600847GTF2A1L,LHCGR,STON1-GTF2A1Lc.1997G= (p.Gly666=)
c.*309G= (n.*309G=)
c.3441+16120C= (n.3441+16120C=)
c.*741G= (n.*741G=)
c.1916G= (p.Gly639=)
c.276+16120C= (n.276+16120C=)
c.*220+6424G= (n.*220+6424G=)
c.1040G= (p.Gly347=)
c.1067G= (p.Gly356=)
c.1922G= (p.Gly641=)
c.1736G= (p.Gly579=)
c.1655G= (p.Gly552=)
c.1361G= (p.Gly454=)
c.1742G= (p.Gly581=)
2g.48687800C>GCA1652952GTF2A1L,LHCGR,STON1-GTF2A1Lc.1997G>C (p.Gly666Ala)
c.*309G>C (n.*309G>C)
c.3441+16120C>G (n.3441+16120C>G)
c.*741G>C (n.*741G>C)
c.1916G>C (p.Gly639Ala)
c.276+16120C>G (n.276+16120C>G)
c.*220+6424G>C (n.*220+6424G>C)
c.1040G>C (p.Gly347Ala)
c.1067G>C (p.Gly356Ala)
c.1922G>C (p.Gly641Ala)
c.1736G>C (p.Gly579Ala)
c.1655G>C (p.Gly552Ala)
c.1361G>C (p.Gly454Ala)
c.1742G>C (p.Gly581Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48687800C>TCA346743322GTF2A1L,LHCGR,STON1-GTF2A1Lc.1997G>A (p.Gly666Asp)
c.*309G>A (n.*309G>A)
c.3441+16120C>T (n.3441+16120C>T)
c.*741G>A (n.*741G>A)
c.1916G>A (p.Gly639Asp)
c.276+16120C>T (n.276+16120C>T)
c.*220+6424G>A (n.*220+6424G>A)
c.1040G>A (p.Gly347Asp)
c.1067G>A (p.Gly356Asp)
c.1922G>A (p.Gly641Asp)
c.1736G>A (p.Gly579Asp)
c.1655G>A (p.Gly552Asp)
c.1361G>A (p.Gly454Asp)
c.1742G>A (p.Gly581Asp)
2g.48687801C>ACA346743323GTF2A1L,LHCGR,STON1-GTF2A1Lc.1996G>T (p.Gly666Cys)
c.*308G>T (n.*308G>T)
c.3441+16121C>A (n.3441+16121C>A)
c.*740G>T (n.*740G>T)
c.1915G>T (p.Gly639Cys)
c.276+16121C>A (n.276+16121C>A)
c.*220+6423G>T (n.*220+6423G>T)
c.1039G>T (p.Gly347Cys)
c.1066G>T (p.Gly356Cys)
c.1921G>T (p.Gly641Cys)
c.1735G>T (p.Gly579Cys)
c.1654G>T (p.Gly552Cys)
c.1360G>T (p.Gly454Cys)
c.1741G>T (p.Gly581Cys)
 dbSNP gnomAD v4
2g.48687801C=CA1248600848GTF2A1L,LHCGR,STON1-GTF2A1Lc.1996G= (p.Gly666=)
c.*308G= (n.*308G=)
c.3441+16121C= (n.3441+16121C=)
c.*740G= (n.*740G=)
c.1915G= (p.Gly639=)
c.276+16121C= (n.276+16121C=)
c.*220+6423G= (n.*220+6423G=)
c.1039G= (p.Gly347=)
c.1066G= (p.Gly356=)
c.1921G= (p.Gly641=)
c.1735G= (p.Gly579=)
c.1654G= (p.Gly552=)
c.1360G= (p.Gly454=)
c.1741G= (p.Gly581=)
2g.48687801C>GCA346743324GTF2A1L,LHCGR,STON1-GTF2A1Lc.1996G>C (p.Gly666Arg)
c.*308G>C (n.*308G>C)
c.3441+16121C>G (n.3441+16121C>G)
c.*740G>C (n.*740G>C)
c.1915G>C (p.Gly639Arg)
c.276+16121C>G (n.276+16121C>G)
c.*220+6423G>C (n.*220+6423G>C)
c.1039G>C (p.Gly347Arg)
c.1066G>C (p.Gly356Arg)
c.1921G>C (p.Gly641Arg)
c.1735G>C (p.Gly579Arg)
c.1654G>C (p.Gly552Arg)
c.1360G>C (p.Gly454Arg)
c.1741G>C (p.Gly581Arg)
2g.48687801C>TCA346743325GTF2A1L,LHCGR,STON1-GTF2A1Lc.1996G>A (p.Gly666Ser)
c.*308G>A (n.*308G>A)
c.3441+16121C>T (n.3441+16121C>T)
c.*740G>A (n.*740G>A)
c.1915G>A (p.Gly639Ser)
c.276+16121C>T (n.276+16121C>T)
c.*220+6423G>A (n.*220+6423G>A)
c.1039G>A (p.Gly347Ser)
c.1066G>A (p.Gly356Ser)
c.1921G>A (p.Gly641Ser)
c.1735G>A (p.Gly579Ser)
c.1654G>A (p.Gly552Ser)
c.1360G>A (p.Gly454Ser)
c.1741G>A (p.Gly581Ser)
 gnomAD v4
2g.48687802A>CCA346743327GTF2A1L,LHCGR,STON1-GTF2A1Lc.1995T>G (p.Asn665Lys)
c.*307T>G (n.*307T>G)
c.3441+16122A>C (n.3441+16122A>C)
c.*739T>G (n.*739T>G)
c.1914T>G (p.Asn638Lys)
c.276+16122A>C (n.276+16122A>C)
c.*220+6422T>G (n.*220+6422T>G)
c.1038T>G (p.Asn346Lys)
c.1065T>G (p.Asn355Lys)
c.1920T>G (p.Asn640Lys)
c.1734T>G (p.Asn578Lys)
c.1653T>G (p.Asn551Lys)
c.1359T>G (p.Asn453Lys)
c.1740T>G (p.Asn580Lys)
 gnomAD v4
2g.48687802A>GCA426125067GTF2A1L,LHCGR,STON1-GTF2A1Lc.1995T>C (p.Asn665=)
c.*307T>C (n.*307T>C)
c.3441+16122A>G (n.3441+16122A>G)
c.*739T>C (n.*739T>C)
c.1914T>C (p.Asn638=)
c.276+16122A>G (n.276+16122A>G)
c.*220+6422T>C (n.*220+6422T>C)
c.1038T>C (p.Asn346=)
c.1065T>C (p.Asn355=)
c.1920T>C (p.Asn640=)
c.1734T>C (p.Asn578=)
c.1653T>C (p.Asn551=)
c.1359T>C (p.Asn453=)
c.1740T>C (p.Asn580=)
 gnomAD v4
2g.48687802A>TCA346743329GTF2A1L,LHCGR,STON1-GTF2A1Lc.1995T>A (p.Asn665Lys)
c.*307T>A (n.*307T>A)
c.3441+16122A>T (n.3441+16122A>T)
c.*739T>A (n.*739T>A)
c.1914T>A (p.Asn638Lys)
c.276+16122A>T (n.276+16122A>T)
c.*220+6422T>A (n.*220+6422T>A)
c.1038T>A (p.Asn346Lys)
c.1065T>A (p.Asn355Lys)
c.1920T>A (p.Asn640Lys)
c.1734T>A (p.Asn578Lys)
c.1653T>A (p.Asn551Lys)
c.1359T>A (p.Asn453Lys)
c.1740T>A (p.Asn580Lys)
2g.48687803T>ACA346743334GTF2A1L,LHCGR,STON1-GTF2A1Lc.1994A>T (p.Asn665Ile)
c.*306A>T (n.*306A>T)
c.3441+16123T>A (n.3441+16123T>A)
c.*738A>T (n.*738A>T)
c.1913A>T (p.Asn638Ile)
c.276+16123T>A (n.276+16123T>A)
c.*220+6421A>T (n.*220+6421A>T)
c.1037A>T (p.Asn346Ile)
c.1064A>T (p.Asn355Ile)
c.1919A>T (p.Asn640Ile)
c.1733A>T (p.Asn578Ile)
c.1652A>T (p.Asn551Ile)
c.1358A>T (p.Asn453Ile)
c.1739A>T (p.Asn580Ile)
2g.48687803T>CCA346743333GTF2A1L,LHCGR,STON1-GTF2A1Lc.1994A>G (p.Asn665Ser)
c.*306A>G (n.*306A>G)
c.3441+16123T>C (n.3441+16123T>C)
c.*738A>G (n.*738A>G)
c.1913A>G (p.Asn638Ser)
c.276+16123T>C (n.276+16123T>C)
c.*220+6421A>G (n.*220+6421A>G)
c.1037A>G (p.Asn346Ser)
c.1064A>G (p.Asn355Ser)
c.1919A>G (p.Asn640Ser)
c.1733A>G (p.Asn578Ser)
c.1652A>G (p.Asn551Ser)
c.1358A>G (p.Asn453Ser)
c.1739A>G (p.Asn580Ser)
2g.48687803T>GCA346743332GTF2A1L,LHCGR,STON1-GTF2A1Lc.1994A>C (p.Asn665Thr)
c.*306A>C (n.*306A>C)
c.3441+16123T>G (n.3441+16123T>G)
c.*738A>C (n.*738A>C)
c.1913A>C (p.Asn638Thr)
c.276+16123T>G (n.276+16123T>G)
c.*220+6421A>C (n.*220+6421A>C)
c.1037A>C (p.Asn346Thr)
c.1064A>C (p.Asn355Thr)
c.1919A>C (p.Asn640Thr)
c.1733A>C (p.Asn578Thr)
c.1652A>C (p.Asn551Thr)
c.1358A>C (p.Asn453Thr)
c.1739A>C (p.Asn580Thr)
 dbSNP
2g.48687803T=CA1248600849GTF2A1L,LHCGR,STON1-GTF2A1Lc.1994A= (p.Asn665=)
c.*306A= (n.*306A=)
c.3441+16123T= (n.3441+16123T=)
c.*738A= (n.*738A=)
c.1913A= (p.Asn638=)
c.276+16123T= (n.276+16123T=)
c.*220+6421A= (n.*220+6421A=)
c.1037A= (p.Asn346=)
c.1064A= (p.Asn355=)
c.1919A= (p.Asn640=)
c.1733A= (p.Asn578=)
c.1652A= (p.Asn551=)
c.1358A= (p.Asn453=)
c.1739A= (p.Asn580=)
2g.48687804T>ACA346743335GTF2A1L,LHCGR,STON1-GTF2A1Lc.1993A>T (p.Asn665Tyr)
c.*305A>T (n.*305A>T)
c.3441+16124T>A (n.3441+16124T>A)
c.*737A>T (n.*737A>T)
c.1912A>T (p.Asn638Tyr)
c.276+16124T>A (n.276+16124T>A)
c.*220+6420A>T (n.*220+6420A>T)
c.1036A>T (p.Asn346Tyr)
c.1063A>T (p.Asn355Tyr)
c.1918A>T (p.Asn640Tyr)
c.1732A>T (p.Asn578Tyr)
c.1651A>T (p.Asn551Tyr)
c.1357A>T (p.Asn453Tyr)
c.1738A>T (p.Asn580Tyr)
2g.48687804T>CCA346743336GTF2A1L,LHCGR,STON1-GTF2A1Lc.1993A>G (p.Asn665Asp)
c.*305A>G (n.*305A>G)
c.3441+16124T>C (n.3441+16124T>C)
c.*737A>G (n.*737A>G)
c.1912A>G (p.Asn638Asp)
c.276+16124T>C (n.276+16124T>C)
c.*220+6420A>G (n.*220+6420A>G)
c.1036A>G (p.Asn346Asp)
c.1063A>G (p.Asn355Asp)
c.1918A>G (p.Asn640Asp)
c.1732A>G (p.Asn578Asp)
c.1651A>G (p.Asn551Asp)
c.1357A>G (p.Asn453Asp)
c.1738A>G (p.Asn580Asp)
2g.48687804T>GCA346743344GTF2A1L,LHCGR,STON1-GTF2A1Lc.1993A>C (p.Asn665His)
c.*305A>C (n.*305A>C)
c.3441+16124T>G (n.3441+16124T>G)
c.*737A>C (n.*737A>C)
c.1912A>C (p.Asn638His)
c.276+16124T>G (n.276+16124T>G)
c.*220+6420A>C (n.*220+6420A>C)
c.1036A>C (p.Asn346His)
c.1063A>C (p.Asn355His)
c.1918A>C (p.Asn640His)
c.1732A>C (p.Asn578His)
c.1651A>C (p.Asn551His)
c.1357A>C (p.Asn453His)
c.1738A>C (p.Asn580His)
2g.48687805T>ACA346743348GTF2A1L,LHCGR,STON1-GTF2A1Lc.1992A>T (p.Lys664Asn)
c.*304A>T (n.*304A>T)
c.3441+16125T>A (n.3441+16125T>A)
c.*736A>T (n.*736A>T)
c.1911A>T (p.Lys637Asn)
c.276+16125T>A (n.276+16125T>A)
c.*220+6419A>T (n.*220+6419A>T)
c.1035A>T (p.Lys345Asn)
c.1062A>T (p.Lys354Asn)
c.1917A>T (p.Lys639Asn)
c.1731A>T (p.Lys577Asn)
c.1650A>T (p.Lys550Asn)
c.1356A>T (p.Lys452Asn)
c.1737A>T (p.Lys579Asn)
2g.48687805T>CCA426125074GTF2A1L,LHCGR,STON1-GTF2A1Lc.1992A>G (p.Lys664=)
c.*304A>G (n.*304A>G)
c.3441+16125T>C (n.3441+16125T>C)
c.*736A>G (n.*736A>G)
c.1911A>G (p.Lys637=)
c.276+16125T>C (n.276+16125T>C)
c.*220+6419A>G (n.*220+6419A>G)
c.1035A>G (p.Lys345=)
c.1062A>G (p.Lys354=)
c.1917A>G (p.Lys639=)
c.1731A>G (p.Lys577=)
c.1650A>G (p.Lys550=)
c.1356A>G (p.Lys452=)
c.1737A>G (p.Lys579=)
2g.48687805T>GCA346743350GTF2A1L,LHCGR,STON1-GTF2A1Lc.1992A>C (p.Lys664Asn)
c.*304A>C (n.*304A>C)
c.3441+16125T>G (n.3441+16125T>G)
c.*736A>C (n.*736A>C)
c.1911A>C (p.Lys637Asn)
c.276+16125T>G (n.276+16125T>G)
c.*220+6419A>C (n.*220+6419A>C)
c.1035A>C (p.Lys345Asn)
c.1062A>C (p.Lys354Asn)
c.1917A>C (p.Lys639Asn)
c.1731A>C (p.Lys577Asn)
c.1650A>C (p.Lys550Asn)
c.1356A>C (p.Lys452Asn)
c.1737A>C (p.Lys579Asn)
2g.48687806T>ACA346743353GTF2A1L,LHCGR,STON1-GTF2A1Lc.1991A>T (p.Lys664Ile)
c.*303A>T (n.*303A>T)
c.3441+16126T>A (n.3441+16126T>A)
c.*735A>T (n.*735A>T)
c.1910A>T (p.Lys637Ile)
c.276+16126T>A (n.276+16126T>A)
c.*220+6418A>T (n.*220+6418A>T)
c.1034A>T (p.Lys345Ile)
c.1061A>T (p.Lys354Ile)
c.1916A>T (p.Lys639Ile)
c.1730A>T (p.Lys577Ile)
c.1649A>T (p.Lys550Ile)
c.1355A>T (p.Lys452Ile)
c.1736A>T (p.Lys579Ile)
2g.48687806T>CCA346743356GTF2A1L,LHCGR,STON1-GTF2A1Lc.1991A>G (p.Lys664Arg)
c.*303A>G (n.*303A>G)
c.3441+16126T>C (n.3441+16126T>C)
c.*735A>G (n.*735A>G)
c.1910A>G (p.Lys637Arg)
c.276+16126T>C (n.276+16126T>C)
c.*220+6418A>G (n.*220+6418A>G)
c.1034A>G (p.Lys345Arg)
c.1061A>G (p.Lys354Arg)
c.1916A>G (p.Lys639Arg)
c.1730A>G (p.Lys577Arg)
c.1649A>G (p.Lys550Arg)
c.1355A>G (p.Lys452Arg)
c.1736A>G (p.Lys579Arg)
2g.48687806T>GCA346743358GTF2A1L,LHCGR,STON1-GTF2A1Lc.1991A>C (p.Lys664Thr)
c.*303A>C (n.*303A>C)
c.3441+16126T>G (n.3441+16126T>G)
c.*735A>C (n.*735A>C)
c.1910A>C (p.Lys637Thr)
c.276+16126T>G (n.276+16126T>G)
c.*220+6418A>C (n.*220+6418A>C)
c.1034A>C (p.Lys345Thr)
c.1061A>C (p.Lys354Thr)
c.1916A>C (p.Lys639Thr)
c.1730A>C (p.Lys577Thr)
c.1649A>C (p.Lys550Thr)
c.1355A>C (p.Lys452Thr)
c.1736A>C (p.Lys579Thr)
 COSMIC
2g.48687807T>ACA346743365GTF2A1L,LHCGR,STON1-GTF2A1Lc.1990A>T (p.Lys664Ter)
c.*302A>T (n.*302A>T)
c.3441+16127T>A (n.3441+16127T>A)
c.*734A>T (n.*734A>T)
c.1909A>T (p.Lys637Ter)
c.276+16127T>A (n.276+16127T>A)
c.*220+6417A>T (n.*220+6417A>T)
c.1033A>T (p.Lys345Ter)
c.1060A>T (p.Lys354Ter)
c.1915A>T (p.Lys639Ter)
c.1729A>T (p.Lys577Ter)
c.1648A>T (p.Lys550Ter)
c.1354A>T (p.Lys452Ter)
c.1735A>T (p.Lys579Ter)
2g.48687807T>CCA346743370GTF2A1L,LHCGR,STON1-GTF2A1Lc.1990A>G (p.Lys664Glu)
c.*302A>G (n.*302A>G)
c.3441+16127T>C (n.3441+16127T>C)
c.*734A>G (n.*734A>G)
c.1909A>G (p.Lys637Glu)
c.276+16127T>C (n.276+16127T>C)
c.*220+6417A>G (n.*220+6417A>G)
c.1033A>G (p.Lys345Glu)
c.1060A>G (p.Lys354Glu)
c.1915A>G (p.Lys639Glu)
c.1729A>G (p.Lys577Glu)
c.1648A>G (p.Lys550Glu)
c.1354A>G (p.Lys452Glu)
c.1735A>G (p.Lys579Glu)
2g.48687807T>GCA346743371GTF2A1L,LHCGR,STON1-GTF2A1Lc.1990A>C (p.Lys664Gln)
c.*302A>C (n.*302A>C)
c.3441+16127T>G (n.3441+16127T>G)
c.*734A>C (n.*734A>C)
c.1909A>C (p.Lys637Gln)
c.276+16127T>G (n.276+16127T>G)
c.*220+6417A>C (n.*220+6417A>C)
c.1033A>C (p.Lys345Gln)
c.1060A>C (p.Lys354Gln)
c.1915A>C (p.Lys639Gln)
c.1729A>C (p.Lys577Gln)
c.1648A>C (p.Lys550Gln)
c.1354A>C (p.Lys452Gln)
c.1735A>C (p.Lys579Gln)
2g.48687808G>ACA426125080GTF2A1L,LHCGR,STON1-GTF2A1Lc.1989C>T (p.Cys663=)
c.*301C>T (n.*301C>T)
c.3441+16128G>A (n.3441+16128G>A)
c.*733C>T (n.*733C>T)
c.1908C>T (p.Cys636=)
c.276+16128G>A (n.276+16128G>A)
c.*220+6416C>T (n.*220+6416C>T)
c.1032C>T (p.Cys344=)
c.1059C>T (p.Cys353=)
c.1914C>T (p.Cys638=)
c.1728C>T (p.Cys576=)
c.1647C>T (p.Cys549=)
c.1353C>T (p.Cys451=)
c.1734C>T (p.Cys578=)
 gnomAD v4
2g.48687808G>CCA346743373GTF2A1L,LHCGR,STON1-GTF2A1Lc.1989C>G (p.Cys663Trp)
c.*301C>G (n.*301C>G)
c.3441+16128G>C (n.3441+16128G>C)
c.*733C>G (n.*733C>G)
c.1908C>G (p.Cys636Trp)
c.276+16128G>C (n.276+16128G>C)
c.*220+6416C>G (n.*220+6416C>G)
c.1032C>G (p.Cys344Trp)
c.1059C>G (p.Cys353Trp)
c.1914C>G (p.Cys638Trp)
c.1728C>G (p.Cys576Trp)
c.1647C>G (p.Cys549Trp)
c.1353C>G (p.Cys451Trp)
c.1734C>G (p.Cys578Trp)
2g.48687808G>TCA346743375GTF2A1L,LHCGR,STON1-GTF2A1Lc.1989C>A (p.Cys663Ter)
c.*301C>A (n.*301C>A)
c.3441+16128G>T (n.3441+16128G>T)
c.*733C>A (n.*733C>A)
c.1908C>A (p.Cys636Ter)
c.276+16128G>T (n.276+16128G>T)
c.*220+6416C>A (n.*220+6416C>A)
c.1032C>A (p.Cys344Ter)
c.1059C>A (p.Cys353Ter)
c.1914C>A (p.Cys638Ter)
c.1728C>A (p.Cys576Ter)
c.1647C>A (p.Cys549Ter)
c.1353C>A (p.Cys451Ter)
c.1734C>A (p.Cys578Ter)
2g.48687809C>ACA346743392GTF2A1L,LHCGR,STON1-GTF2A1Lc.1988G>T (p.Cys663Phe)
c.*300G>T (n.*300G>T)
c.3441+16129C>A (n.3441+16129C>A)
c.*732G>T (n.*732G>T)
c.1907G>T (p.Cys636Phe)
c.276+16129C>A (n.276+16129C>A)
c.*220+6415G>T (n.*220+6415G>T)
c.1031G>T (p.Cys344Phe)
c.1058G>T (p.Cys353Phe)
c.1913G>T (p.Cys638Phe)
c.1727G>T (p.Cys576Phe)
c.1646G>T (p.Cys549Phe)
c.1352G>T (p.Cys451Phe)
c.1733G>T (p.Cys578Phe)
2g.48687809C>GCA346743400GTF2A1L,LHCGR,STON1-GTF2A1Lc.1988G>C (p.Cys663Ser)
c.*300G>C (n.*300G>C)
c.3441+16129C>G (n.3441+16129C>G)
c.*732G>C (n.*732G>C)
c.1907G>C (p.Cys636Ser)
c.276+16129C>G (n.276+16129C>G)
c.*220+6415G>C (n.*220+6415G>C)
c.1031G>C (p.Cys344Ser)
c.1058G>C (p.Cys353Ser)
c.1913G>C (p.Cys638Ser)
c.1727G>C (p.Cys576Ser)
c.1646G>C (p.Cys549Ser)
c.1352G>C (p.Cys451Ser)
c.1733G>C (p.Cys578Ser)
 COSMIC
2g.48687809C>TCA346743389GTF2A1L,LHCGR,STON1-GTF2A1Lc.1988G>A (p.Cys663Tyr)
c.*300G>A (n.*300G>A)
c.3441+16129C>T (n.3441+16129C>T)
c.*732G>A (n.*732G>A)
c.1907G>A (p.Cys636Tyr)
c.276+16129C>T (n.276+16129C>T)
c.*220+6415G>A (n.*220+6415G>A)
c.1031G>A (p.Cys344Tyr)
c.1058G>A (p.Cys353Tyr)
c.1913G>A (p.Cys638Tyr)
c.1727G>A (p.Cys576Tyr)
c.1646G>A (p.Cys549Tyr)
c.1352G>A (p.Cys451Tyr)
c.1733G>A (p.Cys578Tyr)
2g.48687810A>CCA346743401GTF2A1L,LHCGR,STON1-GTF2A1Lc.1987T>G (p.Cys663Gly)
c.*299T>G (n.*299T>G)
c.3441+16130A>C (n.3441+16130A>C)
c.*731T>G (n.*731T>G)
c.1906T>G (p.Cys636Gly)
c.276+16130A>C (n.276+16130A>C)
c.*220+6414T>G (n.*220+6414T>G)
c.1030T>G (p.Cys344Gly)
c.1057T>G (p.Cys353Gly)
c.1912T>G (p.Cys638Gly)
c.1726T>G (p.Cys576Gly)
c.1645T>G (p.Cys549Gly)
c.1351T>G (p.Cys451Gly)
c.1732T>G (p.Cys578Gly)
2g.48687810A>GCA346743403GTF2A1L,LHCGR,STON1-GTF2A1Lc.1987T>C (p.Cys663Arg)
c.*299T>C (n.*299T>C)
c.3441+16130A>G (n.3441+16130A>G)
c.*731T>C (n.*731T>C)
c.1906T>C (p.Cys636Arg)
c.276+16130A>G (n.276+16130A>G)
c.*220+6414T>C (n.*220+6414T>C)
c.1030T>C (p.Cys344Arg)
c.1057T>C (p.Cys353Arg)
c.1912T>C (p.Cys638Arg)
c.1726T>C (p.Cys576Arg)
c.1645T>C (p.Cys549Arg)
c.1351T>C (p.Cys451Arg)
c.1732T>C (p.Cys578Arg)
2g.48687810A>TCA346743402GTF2A1L,LHCGR,STON1-GTF2A1Lc.1987T>A (p.Cys663Ser)
c.*299T>A (n.*299T>A)
c.3441+16130A>T (n.3441+16130A>T)
c.*731T>A (n.*731T>A)
c.1906T>A (p.Cys636Ser)
c.276+16130A>T (n.276+16130A>T)
c.*220+6414T>A (n.*220+6414T>A)
c.1030T>A (p.Cys344Ser)
c.1057T>A (p.Cys353Ser)
c.1912T>A (p.Cys638Ser)
c.1726T>A (p.Cys576Ser)
c.1645T>A (p.Cys549Ser)
c.1351T>A (p.Cys451Ser)
c.1732T>A (p.Cys578Ser)
 gnomAD v4
2g.48687811G>ACA426125086GTF2A1L,LHCGR,STON1-GTF2A1Lc.1986C>T (p.Asn662=)
c.*298C>T (n.*298C>T)
c.3441+16131G>A (n.3441+16131G>A)
c.*730C>T (n.*730C>T)
c.1905C>T (p.Asn635=)
c.276+16131G>A (n.276+16131G>A)
c.*220+6413C>T (n.*220+6413C>T)
c.1029C>T (p.Asn343=)
c.1056C>T (p.Asn352=)
c.1911C>T (p.Asn637=)
c.1725C>T (p.Asn575=)
c.1644C>T (p.Asn548=)
c.1350C>T (p.Asn450=)
c.1731C>T (p.Asn577=)
2g.48687811G>CCA346743404GTF2A1L,LHCGR,STON1-GTF2A1Lc.1986C>G (p.Asn662Lys)
c.*298C>G (n.*298C>G)
c.3441+16131G>C (n.3441+16131G>C)
c.*730C>G (n.*730C>G)
c.1905C>G (p.Asn635Lys)
c.276+16131G>C (n.276+16131G>C)
c.*220+6413C>G (n.*220+6413C>G)
c.1029C>G (p.Asn343Lys)
c.1056C>G (p.Asn352Lys)
c.1911C>G (p.Asn637Lys)
c.1725C>G (p.Asn575Lys)
c.1644C>G (p.Asn548Lys)
c.1350C>G (p.Asn450Lys)
c.1731C>G (p.Asn577Lys)
2g.48687811G=CA1248600850GTF2A1L,LHCGR,STON1-GTF2A1Lc.1986C= (p.Asn662=)
c.*298C= (n.*298C=)
c.3441+16131G= (n.3441+16131G=)
c.*730C= (n.*730C=)
c.1905C= (p.Asn635=)
c.276+16131G= (n.276+16131G=)
c.*220+6413C= (n.*220+6413C=)
c.1029C= (p.Asn343=)
c.1056C= (p.Asn352=)
c.1911C= (p.Asn637=)
c.1725C= (p.Asn575=)
c.1644C= (p.Asn548=)
c.1350C= (p.Asn450=)
c.1731C= (p.Asn577=)
2g.48687811G>TCA46752495GTF2A1L,LHCGR,STON1-GTF2A1Lc.1986C>A (p.Asn662Lys)
c.*298C>A (n.*298C>A)
c.3441+16131G>T (n.3441+16131G>T)
c.*730C>A (n.*730C>A)
c.1905C>A (p.Asn635Lys)
c.276+16131G>T (n.276+16131G>T)
c.*220+6413C>A (n.*220+6413C>A)
c.1029C>A (p.Asn343Lys)
c.1056C>A (p.Asn352Lys)
c.1911C>A (p.Asn637Lys)
c.1725C>A (p.Asn575Lys)
c.1644C>A (p.Asn548Lys)
c.1350C>A (p.Asn450Lys)
c.1731C>A (p.Asn577Lys)
 dbSNP gnomAD v2 gnomAD v4
2g.48687812T>ACA346743405GTF2A1L,LHCGR,STON1-GTF2A1Lc.1985A>T (p.Asn662Ile)
c.*297A>T (n.*297A>T)
c.3441+16132T>A (n.3441+16132T>A)
c.*729A>T (n.*729A>T)
c.1904A>T (p.Asn635Ile)
c.276+16132T>A (n.276+16132T>A)
c.*220+6412A>T (n.*220+6412A>T)
c.1028A>T (p.Asn343Ile)
c.1055A>T (p.Asn352Ile)
c.1910A>T (p.Asn637Ile)
c.1724A>T (p.Asn575Ile)
c.1643A>T (p.Asn548Ile)
c.1349A>T (p.Asn450Ile)
c.1730A>T (p.Asn577Ile)
2g.48687812T>CCA1652953GTF2A1L,LHCGR,STON1-GTF2A1Lc.1985A>G (p.Asn662Ser)
c.*297A>G (n.*297A>G)
c.3441+16132T>C (n.3441+16132T>C)
c.*729A>G (n.*729A>G)
c.1904A>G (p.Asn635Ser)
c.276+16132T>C (n.276+16132T>C)
c.*220+6412A>G (n.*220+6412A>G)
c.1028A>G (p.Asn343Ser)
c.1055A>G (p.Asn352Ser)
c.1910A>G (p.Asn637Ser)
c.1724A>G (p.Asn575Ser)
c.1643A>G (p.Asn548Ser)
c.1349A>G (p.Asn450Ser)
c.1730A>G (p.Asn577Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.48687812T>GCA346743407GTF2A1L,LHCGR,STON1-GTF2A1Lc.1985A>C (p.Asn662Thr)
c.*297A>C (n.*297A>C)
c.3441+16132T>G (n.3441+16132T>G)
c.*729A>C (n.*729A>C)
c.1904A>C (p.Asn635Thr)
c.276+16132T>G (n.276+16132T>G)
c.*220+6412A>C (n.*220+6412A>C)
c.1028A>C (p.Asn343Thr)
c.1055A>C (p.Asn352Thr)
c.1910A>C (p.Asn637Thr)
c.1724A>C (p.Asn575Thr)
c.1643A>C (p.Asn548Thr)
c.1349A>C (p.Asn450Thr)
c.1730A>C (p.Asn577Thr)
2g.48687812T=CA1248600851GTF2A1L,LHCGR,STON1-GTF2A1Lc.1985A= (p.Asn662=)
c.*297A= (n.*297A=)
c.3441+16132T= (n.3441+16132T=)
c.*729A= (n.*729A=)
c.1904A= (p.Asn635=)
c.276+16132T= (n.276+16132T=)
c.*220+6412A= (n.*220+6412A=)
c.1028A= (p.Asn343=)
c.1055A= (p.Asn352=)
c.1910A= (p.Asn637=)
c.1724A= (p.Asn575=)
c.1643A= (p.Asn548=)
c.1349A= (p.Asn450=)
c.1730A= (p.Asn577=)
2g.48687813T>ACA346743411GTF2A1L,LHCGR,STON1-GTF2A1Lc.1984A>T (p.Asn662Tyr)
c.*296A>T (n.*296A>T)
c.3441+16133T>A (n.3441+16133T>A)
c.*728A>T (n.*728A>T)
c.1903A>T (p.Asn635Tyr)
c.276+16133T>A (n.276+16133T>A)
c.*220+6411A>T (n.*220+6411A>T)
c.1027A>T (p.Asn343Tyr)
c.1054A>T (p.Asn352Tyr)
c.1909A>T (p.Asn637Tyr)
c.1723A>T (p.Asn575Tyr)
c.1642A>T (p.Asn548Tyr)
c.1348A>T (p.Asn450Tyr)
c.1729A>T (p.Asn577Tyr)
 gnomAD v4
2g.48687813T>CCA346743410GTF2A1L,LHCGR,STON1-GTF2A1Lc.1984A>G (p.Asn662Asp)
c.*296A>G (n.*296A>G)
c.3441+16133T>C (n.3441+16133T>C)
c.*728A>G (n.*728A>G)
c.1903A>G (p.Asn635Asp)
c.276+16133T>C (n.276+16133T>C)
c.*220+6411A>G (n.*220+6411A>G)
c.1027A>G (p.Asn343Asp)
c.1054A>G (p.Asn352Asp)
c.1909A>G (p.Asn637Asp)
c.1723A>G (p.Asn575Asp)
c.1642A>G (p.Asn548Asp)
c.1348A>G (p.Asn450Asp)
c.1729A>G (p.Asn577Asp)
2g.48687813T>GCA346743409GTF2A1L,LHCGR,STON1-GTF2A1Lc.1984A>C (p.Asn662His)
c.*296A>C (n.*296A>C)
c.3441+16133T>G (n.3441+16133T>G)
c.*728A>C (n.*728A>C)
c.1903A>C (p.Asn635His)
c.276+16133T>G (n.276+16133T>G)
c.*220+6411A>C (n.*220+6411A>C)
c.1027A>C (p.Asn343His)
c.1054A>C (p.Asn352His)
c.1909A>C (p.Asn637His)
c.1723A>C (p.Asn575His)
c.1642A>C (p.Asn548His)
c.1348A>C (p.Asn450His)
c.1729A>C (p.Asn577His)
2g.48687814G>ACA426125091GTF2A1L,LHCGR,STON1-GTF2A1Lc.1983C>T (p.Ser661=)
c.*295C>T (n.*295C>T)
c.3441+16134G>A (n.3441+16134G>A)
c.*727C>T (n.*727C>T)
c.1902C>T (p.Ser634=)
c.276+16134G>A (n.276+16134G>A)
c.*220+6410C>T (n.*220+6410C>T)
c.1026C>T (p.Ser342=)
c.1053C>T (p.Ser351=)
c.1908C>T (p.Ser636=)
c.1722C>T (p.Ser574=)
c.1641C>T (p.Ser547=)
c.1347C>T (p.Ser449=)
c.1728C>T (p.Ser576=)
2g.48687814G>CCA426125092GTF2A1L,LHCGR,STON1-GTF2A1Lc.1983C>G (p.Ser661=)
c.*295C>G (n.*295C>G)
c.3441+16134G>C (n.3441+16134G>C)
c.*727C>G (n.*727C>G)
c.1902C>G (p.Ser634=)
c.276+16134G>C (n.276+16134G>C)
c.*220+6410C>G (n.*220+6410C>G)
c.1026C>G (p.Ser342=)
c.1053C>G (p.Ser351=)
c.1908C>G (p.Ser636=)
c.1722C>G (p.Ser574=)
c.1641C>G (p.Ser547=)
c.1347C>G (p.Ser449=)
c.1728C>G (p.Ser576=)
2g.48687814G>TCA426125093GTF2A1L,LHCGR,STON1-GTF2A1Lc.1983C>A (p.Ser661=)
c.*295C>A (n.*295C>A)
c.3441+16134G>T (n.3441+16134G>T)
c.*727C>A (n.*727C>A)
c.1902C>A (p.Ser634=)
c.276+16134G>T (n.276+16134G>T)
c.*220+6410C>A (n.*220+6410C>A)
c.1026C>A (p.Ser342=)
c.1053C>A (p.Ser351=)
c.1908C>A (p.Ser636=)
c.1722C>A (p.Ser574=)
c.1641C>A (p.Ser547=)
c.1347C>A (p.Ser449=)
c.1728C>A (p.Ser576=)
2g.48687815G>ACA346743413GTF2A1L,LHCGR,STON1-GTF2A1Lc.1982C>T (p.Ser661Phe)
c.*294C>T (n.*294C>T)
c.3441+16135G>A (n.3441+16135G>A)
c.*726C>T (n.*726C>T)
c.1901C>T (p.Ser634Phe)
c.276+16135G>A (n.276+16135G>A)
c.*220+6409C>T (n.*220+6409C>T)
c.1025C>T (p.Ser342Phe)
c.1052C>T (p.Ser351Phe)
c.1907C>T (p.Ser636Phe)
c.1721C>T (p.Ser574Phe)
c.1640C>T (p.Ser547Phe)
c.1346C>T (p.Ser449Phe)
c.1727C>T (p.Ser576Phe)
 dbSNP gnomAD v3 gnomAD v4
2g.48687815G>CCA46752500GTF2A1L,LHCGR,STON1-GTF2A1Lc.1982C>G (p.Ser661Cys)
c.*294C>G (n.*294C>G)
c.3441+16135G>C (n.3441+16135G>C)
c.*726C>G (n.*726C>G)
c.1901C>G (p.Ser634Cys)
c.276+16135G>C (n.276+16135G>C)
c.*220+6409C>G (n.*220+6409C>G)
c.1025C>G (p.Ser342Cys)
c.1052C>G (p.Ser351Cys)
c.1907C>G (p.Ser636Cys)
c.1721C>G (p.Ser574Cys)
c.1640C>G (p.Ser547Cys)
c.1346C>G (p.Ser449Cys)
c.1727C>G (p.Ser576Cys)
 dbSNP gnomAD v2 gnomAD v4
2g.48687815G=CA1248600852GTF2A1L,LHCGR,STON1-GTF2A1Lc.1982C= (p.Ser661=)
c.*294C= (n.*294C=)
c.3441+16135G= (n.3441+16135G=)
c.*726C= (n.*726C=)
c.1901C= (p.Ser634=)
c.276+16135G= (n.276+16135G=)
c.*220+6409C= (n.*220+6409C=)
c.1025C= (p.Ser342=)
c.1052C= (p.Ser351=)
c.1907C= (p.Ser636=)
c.1721C= (p.Ser574=)
c.1640C= (p.Ser547=)
c.1346C= (p.Ser449=)
c.1727C= (p.Ser576=)
2g.48687815G>TCA346743415GTF2A1L,LHCGR,STON1-GTF2A1Lc.1982C>A (p.Ser661Tyr)
c.*294C>A (n.*294C>A)
c.3441+16135G>T (n.3441+16135G>T)
c.*726C>A (n.*726C>A)
c.1901C>A (p.Ser634Tyr)
c.276+16135G>T (n.276+16135G>T)
c.*220+6409C>A (n.*220+6409C>A)
c.1025C>A (p.Ser342Tyr)
c.1052C>A (p.Ser351Tyr)
c.1907C>A (p.Ser636Tyr)
c.1721C>A (p.Ser574Tyr)
c.1640C>A (p.Ser547Tyr)
c.1346C>A (p.Ser449Tyr)
c.1727C>A (p.Ser576Tyr)
2g.48687816A=CA1248600853GTF2A1L,LHCGR,STON1-GTF2A1Lc.1981T= (p.Ser661=)
c.*293T= (n.*293T=)
c.3441+16136A= (n.3441+16136A=)
c.*725T= (n.*725T=)
c.1900T= (p.Ser634=)
c.276+16136A= (n.276+16136A=)
c.*220+6408T= (n.*220+6408T=)
c.1024T= (p.Ser342=)
c.1051T= (p.Ser351=)
c.1906T= (p.Ser636=)
c.1720T= (p.Ser574=)
c.1639T= (p.Ser547=)
c.1345T= (p.Ser449=)
c.1726T= (p.Ser576=)
2g.48687816A>CCA346743417GTF2A1L,LHCGR,STON1-GTF2A1Lc.1981T>G (p.Ser661Ala)
c.*293T>G (n.*293T>G)
c.3441+16136A>C (n.3441+16136A>C)
c.*725T>G (n.*725T>G)
c.1900T>G (p.Ser634Ala)
c.276+16136A>C (n.276+16136A>C)
c.*220+6408T>G (n.*220+6408T>G)
c.1024T>G (p.Ser342Ala)
c.1051T>G (p.Ser351Ala)
c.1906T>G (p.Ser636Ala)
c.1720T>G (p.Ser574Ala)
c.1639T>G (p.Ser547Ala)
c.1345T>G (p.Ser449Ala)
c.1726T>G (p.Ser576Ala)
2g.48687816A>GCA46752503GTF2A1L,LHCGR,STON1-GTF2A1Lc.1981T>C (p.Ser661Pro)
c.*293T>C (n.*293T>C)
c.3441+16136A>G (n.3441+16136A>G)
c.*725T>C (n.*725T>C)
c.1900T>C (p.Ser634Pro)
c.276+16136A>G (n.276+16136A>G)
c.*220+6408T>C (n.*220+6408T>C)
c.1024T>C (p.Ser342Pro)
c.1051T>C (p.Ser351Pro)
c.1906T>C (p.Ser636Pro)
c.1720T>C (p.Ser574Pro)
c.1639T>C (p.Ser547Pro)
c.1345T>C (p.Ser449Pro)
c.1726T>C (p.Ser576Pro)
 dbSNP
2g.48687816A>TCA1652954GTF2A1L,LHCGR,STON1-GTF2A1Lc.1981T>A (p.Ser661Thr)
c.*293T>A (n.*293T>A)
c.3441+16136A>T (n.3441+16136A>T)
c.*725T>A (n.*725T>A)
c.1900T>A (p.Ser634Thr)
c.276+16136A>T (n.276+16136A>T)
c.*220+6408T>A (n.*220+6408T>A)
c.1024T>A (p.Ser342Thr)
c.1051T>A (p.Ser351Thr)
c.1906T>A (p.Ser636Thr)
c.1720T>A (p.Ser574Thr)
c.1639T>A (p.Ser547Thr)
c.1345T>A (p.Ser449Thr)
c.1726T>A (p.Ser576Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48687817G>ACA426125100GTF2A1L,LHCGR,STON1-GTF2A1Lc.1980C>T (p.Thr660=)
c.*292C>T (n.*292C>T)
c.3441+16137G>A (n.3441+16137G>A)
c.*724C>T (n.*724C>T)
c.1899C>T (p.Thr633=)
c.276+16137G>A (n.276+16137G>A)
c.*220+6407C>T (n.*220+6407C>T)
c.1023C>T (p.Thr341=)
c.1050C>T (p.Thr350=)
c.1905C>T (p.Thr635=)
c.1719C>T (p.Thr573=)
c.1638C>T (p.Thr546=)
c.1344C>T (p.Thr448=)
c.1725C>T (p.Thr575=)
 gnomAD v4 COSMIC
2g.48687817G>CCA426125101GTF2A1L,LHCGR,STON1-GTF2A1Lc.1980C>G (p.Thr660=)
c.*292C>G (n.*292C>G)
c.3441+16137G>C (n.3441+16137G>C)
c.*724C>G (n.*724C>G)
c.1899C>G (p.Thr633=)
c.276+16137G>C (n.276+16137G>C)
c.*220+6407C>G (n.*220+6407C>G)
c.1023C>G (p.Thr341=)
c.1050C>G (p.Thr350=)
c.1905C>G (p.Thr635=)
c.1719C>G (p.Thr573=)
c.1638C>G (p.Thr546=)
c.1344C>G (p.Thr448=)
c.1725C>G (p.Thr575=)
2g.48687817G>TCA426125102GTF2A1L,LHCGR,STON1-GTF2A1Lc.1980C>A (p.Thr660=)
c.*292C>A (n.*292C>A)
c.3441+16137G>T (n.3441+16137G>T)
c.*724C>A (n.*724C>A)
c.1899C>A (p.Thr633=)
c.276+16137G>T (n.276+16137G>T)
c.*220+6407C>A (n.*220+6407C>A)
c.1023C>A (p.Thr341=)
c.1050C>A (p.Thr350=)
c.1905C>A (p.Thr635=)
c.1719C>A (p.Thr573=)
c.1638C>A (p.Thr546=)
c.1344C>A (p.Thr448=)
c.1725C>A (p.Thr575=)
 dbSNP gnomAD v3 gnomAD v4
2g.48687818G>ACA346743426GTF2A1L,LHCGR,STON1-GTF2A1Lc.1979C>T (p.Thr660Ile)
c.*291C>T (n.*291C>T)
c.3441+16138G>A (n.3441+16138G>A)
c.*723C>T (n.*723C>T)
c.1898C>T (p.Thr633Ile)
c.276+16138G>A (n.276+16138G>A)
c.*220+6406C>T (n.*220+6406C>T)
c.1022C>T (p.Thr341Ile)
c.1049C>T (p.Thr350Ile)
c.1904C>T (p.Thr635Ile)
c.1718C>T (p.Thr573Ile)
c.1637C>T (p.Thr546Ile)
c.1343C>T (p.Thr448Ile)
c.1724C>T (p.Thr575Ile)
 dbSNP gnomAD v2 gnomAD v4
2g.48687818G>CCA1652955GTF2A1L,LHCGR,STON1-GTF2A1Lc.1979C>G (p.Thr660Ser)
c.*291C>G (n.*291C>G)
c.3441+16138G>C (n.3441+16138G>C)
c.*723C>G (n.*723C>G)
c.1898C>G (p.Thr633Ser)
c.276+16138G>C (n.276+16138G>C)
c.*220+6406C>G (n.*220+6406C>G)
c.1022C>G (p.Thr341Ser)
c.1049C>G (p.Thr350Ser)
c.1904C>G (p.Thr635Ser)
c.1718C>G (p.Thr573Ser)
c.1637C>G (p.Thr546Ser)
c.1343C>G (p.Thr448Ser)
c.1724C>G (p.Thr575Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48687818G=CA1248600854GTF2A1L,LHCGR,STON1-GTF2A1Lc.1979C= (p.Thr660=)
c.*291C= (n.*291C=)
c.3441+16138G= (n.3441+16138G=)
c.*723C= (n.*723C=)
c.1898C= (p.Thr633=)
c.276+16138G= (n.276+16138G=)
c.*220+6406C= (n.*220+6406C=)
c.1022C= (p.Thr341=)
c.1049C= (p.Thr350=)
c.1904C= (p.Thr635=)
c.1718C= (p.Thr573=)
c.1637C= (p.Thr546=)
c.1343C= (p.Thr448=)
c.1724C= (p.Thr575=)
2g.48687818G>TCA346743428GTF2A1L,LHCGR,STON1-GTF2A1Lc.1979C>A (p.Thr660Asn)
c.*291C>A (n.*291C>A)
c.3441+16138G>T (n.3441+16138G>T)
c.*723C>A (n.*723C>A)
c.1898C>A (p.Thr633Asn)
c.276+16138G>T (n.276+16138G>T)
c.*220+6406C>A (n.*220+6406C>A)
c.1022C>A (p.Thr341Asn)
c.1049C>A (p.Thr350Asn)
c.1904C>A (p.Thr635Asn)
c.1718C>A (p.Thr573Asn)
c.1637C>A (p.Thr546Asn)
c.1343C>A (p.Thr448Asn)
c.1724C>A (p.Thr575Asn)
2g.48687819T>ACA346743433GTF2A1L,LHCGR,STON1-GTF2A1Lc.1978A>T (p.Thr660Ser)
c.*290A>T (n.*290A>T)
c.3441+16139T>A (n.3441+16139T>A)
c.*722A>T (n.*722A>T)
c.1897A>T (p.Thr633Ser)
c.276+16139T>A (n.276+16139T>A)
c.*220+6405A>T (n.*220+6405A>T)
c.1021A>T (p.Thr341Ser)
c.1048A>T (p.Thr350Ser)
c.1903A>T (p.Thr635Ser)
c.1717A>T (p.Thr573Ser)
c.1636A>T (p.Thr546Ser)
c.1342A>T (p.Thr448Ser)
c.1723A>T (p.Thr575Ser)
2g.48687819T>CCA346743434GTF2A1L,LHCGR,STON1-GTF2A1Lc.1978A>G (p.Thr660Ala)
c.*290A>G (n.*290A>G)
c.3441+16139T>C (n.3441+16139T>C)
c.*722A>G (n.*722A>G)
c.1897A>G (p.Thr633Ala)
c.276+16139T>C (n.276+16139T>C)
c.*220+6405A>G (n.*220+6405A>G)
c.1021A>G (p.Thr341Ala)
c.1048A>G (p.Thr350Ala)
c.1903A>G (p.Thr635Ala)
c.1717A>G (p.Thr573Ala)
c.1636A>G (p.Thr546Ala)
c.1342A>G (p.Thr448Ala)
c.1723A>G (p.Thr575Ala)
2g.48687819T>GCA346743439GTF2A1L,LHCGR,STON1-GTF2A1Lc.1978A>C (p.Thr660Pro)
c.*290A>C (n.*290A>C)
c.3441+16139T>G (n.3441+16139T>G)
c.*722A>C (n.*722A>C)
c.1897A>C (p.Thr633Pro)
c.276+16139T>G (n.276+16139T>G)
c.*220+6405A>C (n.*220+6405A>C)
c.1021A>C (p.Thr341Pro)
c.1048A>C (p.Thr350Pro)
c.1903A>C (p.Thr635Pro)
c.1717A>C (p.Thr573Pro)
c.1636A>C (p.Thr546Pro)
c.1342A>C (p.Thr448Pro)
c.1723A>C (p.Thr575Pro)
2g.48687820G>ACA46752505GTF2A1L,LHCGR,STON1-GTF2A1Lc.1977C>T (p.Tyr659=)
c.*289C>T (n.*289C>T)
c.3441+16140G>A (n.3441+16140G>A)
c.*721C>T (n.*721C>T)
c.1896C>T (p.Tyr632=)
c.276+16140G>A (n.276+16140G>A)
c.*220+6404C>T (n.*220+6404C>T)
c.1020C>T (p.Tyr340=)
c.1047C>T (p.Tyr349=)
c.1902C>T (p.Tyr634=)
c.1716C>T (p.Tyr572=)
c.1635C>T (p.Tyr545=)
c.1341C>T (p.Tyr447=)
c.1722C>T (p.Tyr574=)
 dbSNP gnomAD v4
2g.48687820G>CCA346743441GTF2A1L,LHCGR,STON1-GTF2A1Lc.1977C>G (p.Tyr659Ter)
c.*289C>G (n.*289C>G)
c.3441+16140G>C (n.3441+16140G>C)
c.*721C>G (n.*721C>G)
c.1896C>G (p.Tyr632Ter)
c.276+16140G>C (n.276+16140G>C)
c.*220+6404C>G (n.*220+6404C>G)
c.1020C>G (p.Tyr340Ter)
c.1047C>G (p.Tyr349Ter)
c.1902C>G (p.Tyr634Ter)
c.1716C>G (p.Tyr572Ter)
c.1635C>G (p.Tyr545Ter)
c.1341C>G (p.Tyr447Ter)
c.1722C>G (p.Tyr574Ter)
2g.48687820G=CA1248600855GTF2A1L,LHCGR,STON1-GTF2A1Lc.1977C= (p.Tyr659=)
c.*289C= (n.*289C=)
c.3441+16140G= (n.3441+16140G=)
c.*721C= (n.*721C=)
c.1896C= (p.Tyr632=)
c.276+16140G= (n.276+16140G=)
c.*220+6404C= (n.*220+6404C=)
c.1020C= (p.Tyr340=)
c.1047C= (p.Tyr349=)
c.1902C= (p.Tyr634=)
c.1716C= (p.Tyr572=)
c.1635C= (p.Tyr545=)
c.1341C= (p.Tyr447=)
c.1722C= (p.Tyr574=)
2g.48687820G>TCA346743448GTF2A1L,LHCGR,STON1-GTF2A1Lc.1977C>A (p.Tyr659Ter)
c.*289C>A (n.*289C>A)
c.3441+16140G>T (n.3441+16140G>T)
c.*721C>A (n.*721C>A)
c.1896C>A (p.Tyr632Ter)
c.276+16140G>T (n.276+16140G>T)
c.*220+6404C>A (n.*220+6404C>A)
c.1020C>A (p.Tyr340Ter)
c.1047C>A (p.Tyr349Ter)
c.1902C>A (p.Tyr634Ter)
c.1716C>A (p.Tyr572Ter)
c.1635C>A (p.Tyr545Ter)
c.1341C>A (p.Tyr447Ter)
c.1722C>A (p.Tyr574Ter)
2g.48687821T>ACA346743452GTF2A1L,LHCGR,STON1-GTF2A1Lc.1976A>T (p.Tyr659Phe)
c.*288A>T (n.*288A>T)
c.3441+16141T>A (n.3441+16141T>A)
c.*720A>T (n.*720A>T)
c.1895A>T (p.Tyr632Phe)
c.276+16141T>A (n.276+16141T>A)
c.*220+6403A>T (n.*220+6403A>T)
c.1019A>T (p.Tyr340Phe)
c.1046A>T (p.Tyr349Phe)
c.1901A>T (p.Tyr634Phe)
c.1715A>T (p.Tyr572Phe)
c.1634A>T (p.Tyr545Phe)
c.1340A>T (p.Tyr447Phe)
c.1721A>T (p.Tyr574Phe)
2g.48687821T>CCA346743453GTF2A1L,LHCGR,STON1-GTF2A1Lc.1976A>G (p.Tyr659Cys)
c.*288A>G (n.*288A>G)
c.3441+16141T>C (n.3441+16141T>C)
c.*720A>G (n.*720A>G)
c.1895A>G (p.Tyr632Cys)
c.276+16141T>C (n.276+16141T>C)
c.*220+6403A>G (n.*220+6403A>G)
c.1019A>G (p.Tyr340Cys)
c.1046A>G (p.Tyr349Cys)
c.1901A>G (p.Tyr634Cys)
c.1715A>G (p.Tyr572Cys)
c.1634A>G (p.Tyr545Cys)
c.1340A>G (p.Tyr447Cys)
c.1721A>G (p.Tyr574Cys)
2g.48687821T>GCA346743457GTF2A1L,LHCGR,STON1-GTF2A1Lc.1976A>C (p.Tyr659Ser)
c.*288A>C (n.*288A>C)
c.3441+16141T>G (n.3441+16141T>G)
c.*720A>C (n.*720A>C)
c.1895A>C (p.Tyr632Ser)
c.276+16141T>G (n.276+16141T>G)
c.*220+6403A>C (n.*220+6403A>C)
c.1019A>C (p.Tyr340Ser)
c.1046A>C (p.Tyr349Ser)
c.1901A>C (p.Tyr634Ser)
c.1715A>C (p.Tyr572Ser)
c.1634A>C (p.Tyr545Ser)
c.1340A>C (p.Tyr447Ser)
c.1721A>C (p.Tyr574Ser)
2g.48687822A>CCA346743460GTF2A1L,LHCGR,STON1-GTF2A1Lc.1975T>G (p.Tyr659Asp)
c.*287T>G (n.*287T>G)
c.3441+16142A>C (n.3441+16142A>C)
c.*719T>G (n.*719T>G)
c.1894T>G (p.Tyr632Asp)
c.276+16142A>C (n.276+16142A>C)
c.*220+6402T>G (n.*220+6402T>G)
c.1018T>G (p.Tyr340Asp)
c.1045T>G (p.Tyr349Asp)
c.1900T>G (p.Tyr634Asp)
c.1714T>G (p.Tyr572Asp)
c.1633T>G (p.Tyr545Asp)
c.1339T>G (p.Tyr447Asp)
c.1720T>G (p.Tyr574Asp)
2g.48687822A>GCA346743463GTF2A1L,LHCGR,STON1-GTF2A1Lc.1975T>C (p.Tyr659His)
c.*287T>C (n.*287T>C)
c.3441+16142A>G (n.3441+16142A>G)
c.*719T>C (n.*719T>C)
c.1894T>C (p.Tyr632His)
c.276+16142A>G (n.276+16142A>G)
c.*220+6402T>C (n.*220+6402T>C)
c.1018T>C (p.Tyr340His)
c.1045T>C (p.Tyr349His)
c.1900T>C (p.Tyr634His)
c.1714T>C (p.Tyr572His)
c.1633T>C (p.Tyr545His)
c.1339T>C (p.Tyr447His)
c.1720T>C (p.Tyr574His)
 COSMIC
2g.48687822A>TCA346743465GTF2A1L,LHCGR,STON1-GTF2A1Lc.1975T>A (p.Tyr659Asn)
c.*287T>A (n.*287T>A)
c.3441+16142A>T (n.3441+16142A>T)
c.*719T>A (n.*719T>A)
c.1894T>A (p.Tyr632Asn)
c.276+16142A>T (n.276+16142A>T)
c.*220+6402T>A (n.*220+6402T>A)
c.1018T>A (p.Tyr340Asn)
c.1045T>A (p.Tyr349Asn)
c.1900T>A (p.Tyr634Asn)
c.1714T>A (p.Tyr572Asn)
c.1633T>A (p.Tyr545Asn)
c.1339T>A (p.Tyr447Asn)
c.1720T>A (p.Tyr574Asn)
2g.48687823A>CCA426125110GTF2A1L,LHCGR,STON1-GTF2A1Lc.1974T>G (p.Ala658=)
c.*286T>G (n.*286T>G)
c.3441+16143A>C (n.3441+16143A>C)
c.*718T>G (n.*718T>G)
c.1893T>G (p.Ala631=)
c.276+16143A>C (n.276+16143A>C)
c.*220+6401T>G (n.*220+6401T>G)
c.1017T>G (p.Ala339=)
c.1044T>G (p.Ala348=)
c.1899T>G (p.Ala633=)
c.1713T>G (p.Ala571=)
c.1632T>G (p.Ala544=)
c.1338T>G (p.Ala446=)
c.1719T>G (p.Ala573=)
2g.48687823A>GCA426125111GTF2A1L,LHCGR,STON1-GTF2A1Lc.1974T>C (p.Ala658=)
c.*286T>C (n.*286T>C)
c.3441+16143A>G (n.3441+16143A>G)
c.*718T>C (n.*718T>C)
c.1893T>C (p.Ala631=)
c.276+16143A>G (n.276+16143A>G)
c.*220+6401T>C (n.*220+6401T>C)
c.1017T>C (p.Ala339=)
c.1044T>C (p.Ala348=)
c.1899T>C (p.Ala633=)
c.1713T>C (p.Ala571=)
c.1632T>C (p.Ala544=)
c.1338T>C (p.Ala446=)
c.1719T>C (p.Ala573=)
2g.48687823A>TCA426125112GTF2A1L,LHCGR,STON1-GTF2A1Lc.1974T>A (p.Ala658=)
c.*286T>A (n.*286T>A)
c.3441+16143A>T (n.3441+16143A>T)
c.*718T>A (n.*718T>A)
c.1893T>A (p.Ala631=)
c.276+16143A>T (n.276+16143A>T)
c.*220+6401T>A (n.*220+6401T>A)
c.1017T>A (p.Ala339=)
c.1044T>A (p.Ala348=)
c.1899T>A (p.Ala633=)
c.1713T>A (p.Ala571=)
c.1632T>A (p.Ala544=)
c.1338T>A (p.Ala446=)
c.1719T>A (p.Ala573=)
2g.48687824G>ACA346743468GTF2A1L,LHCGR,STON1-GTF2A1Lc.1973C>T (p.Ala658Val)
c.*285C>T (n.*285C>T)
c.3441+16144G>A (n.3441+16144G>A)
c.*717C>T (n.*717C>T)
c.1892C>T (p.Ala631Val)
c.276+16144G>A (n.276+16144G>A)
c.*220+6400C>T (n.*220+6400C>T)
c.1016C>T (p.Ala339Val)
c.1043C>T (p.Ala348Val)
c.1898C>T (p.Ala633Val)
c.1712C>T (p.Ala571Val)
c.1631C>T (p.Ala544Val)
c.1337C>T (p.Ala446Val)
c.1718C>T (p.Ala573Val)
 gnomAD v4
2g.48687824G>CCA346743470GTF2A1L,LHCGR,STON1-GTF2A1Lc.1973C>G (p.Ala658Gly)
c.*285C>G (n.*285C>G)
c.3441+16144G>C (n.3441+16144G>C)
c.*717C>G (n.*717C>G)
c.1892C>G (p.Ala631Gly)
c.276+16144G>C (n.276+16144G>C)
c.*220+6400C>G (n.*220+6400C>G)
c.1016C>G (p.Ala339Gly)
c.1043C>G (p.Ala348Gly)
c.1898C>G (p.Ala633Gly)
c.1712C>G (p.Ala571Gly)
c.1631C>G (p.Ala544Gly)
c.1337C>G (p.Ala446Gly)
c.1718C>G (p.Ala573Gly)
2g.48687824G>TCA346743469GTF2A1L,LHCGR,STON1-GTF2A1Lc.1973C>A (p.Ala658Asp)
c.*285C>A (n.*285C>A)
c.3441+16144G>T (n.3441+16144G>T)
c.*717C>A (n.*717C>A)
c.1892C>A (p.Ala631Asp)
c.276+16144G>T (n.276+16144G>T)
c.*220+6400C>A (n.*220+6400C>A)
c.1016C>A (p.Ala339Asp)
c.1043C>A (p.Ala348Asp)
c.1898C>A (p.Ala633Asp)
c.1712C>A (p.Ala571Asp)
c.1631C>A (p.Ala544Asp)
c.1337C>A (p.Ala446Asp)
c.1718C>A (p.Ala573Asp)
 gnomAD v4
2g.48687825C>ACA346743471GTF2A1L,LHCGR,STON1-GTF2A1Lc.1972G>T (p.Ala658Ser)
c.*284G>T (n.*284G>T)
c.3441+16145C>A (n.3441+16145C>A)
c.*716G>T (n.*716G>T)
c.1891G>T (p.Ala631Ser)
c.276+16145C>A (n.276+16145C>A)
c.*220+6399G>T (n.*220+6399G>T)
c.1015G>T (p.Ala339Ser)
c.1042G>T (p.Ala348Ser)
c.1897G>T (p.Ala633Ser)
c.1711G>T (p.Ala571Ser)
c.1630G>T (p.Ala544Ser)
c.1336G>T (p.Ala446Ser)
c.1717G>T (p.Ala573Ser)
 gnomAD v4
2g.48687825C>GCA346743472GTF2A1L,LHCGR,STON1-GTF2A1Lc.1972G>C (p.Ala658Pro)
c.*284G>C (n.*284G>C)
c.3441+16145C>G (n.3441+16145C>G)
c.*716G>C (n.*716G>C)
c.1891G>C (p.Ala631Pro)
c.276+16145C>G (n.276+16145C>G)
c.*220+6399G>C (n.*220+6399G>C)
c.1015G>C (p.Ala339Pro)
c.1042G>C (p.Ala348Pro)
c.1897G>C (p.Ala633Pro)
c.1711G>C (p.Ala571Pro)
c.1630G>C (p.Ala544Pro)
c.1336G>C (p.Ala446Pro)
c.1717G>C (p.Ala573Pro)
2g.48687825C>TCA346743473GTF2A1L,LHCGR,STON1-GTF2A1Lc.1972G>A (p.Ala658Thr)
c.*284G>A (n.*284G>A)
c.3441+16145C>T (n.3441+16145C>T)
c.*716G>A (n.*716G>A)
c.1891G>A (p.Ala631Thr)
c.276+16145C>T (n.276+16145C>T)
c.*220+6399G>A (n.*220+6399G>A)
c.1015G>A (p.Ala339Thr)
c.1042G>A (p.Ala348Thr)
c.1897G>A (p.Ala633Thr)
c.1711G>A (p.Ala571Thr)
c.1630G>A (p.Ala544Thr)
c.1336G>A (p.Ala446Thr)
c.1717G>A (p.Ala573Thr)
2g.48687826T>ACA426125118GTF2A1L,LHCGR,STON1-GTF2A1Lc.1971A>T (p.Ser657=)
c.*283A>T (n.*283A>T)
c.3441+16146T>A (n.3441+16146T>A)
c.*715A>T (n.*715A>T)
c.1890A>T (p.Ser630=)
c.276+16146T>A (n.276+16146T>A)
c.*220+6398A>T (n.*220+6398A>T)
c.1014A>T (p.Ser338=)
c.1041A>T (p.Ser347=)
c.1896A>T (p.Ser632=)
c.1710A>T (p.Ser570=)
c.1629A>T (p.Ser543=)
c.1335A>T (p.Ser445=)
c.1716A>T (p.Ser572=)
2g.48687826T>CCA1652956GTF2A1L,LHCGR,STON1-GTF2A1Lc.1971A>G (p.Ser657=)
c.*283A>G (n.*283A>G)
c.3441+16146T>C (n.3441+16146T>C)
c.*715A>G (n.*715A>G)
c.1890A>G (p.Ser630=)
c.276+16146T>C (n.276+16146T>C)
c.*220+6398A>G (n.*220+6398A>G)
c.1014A>G (p.Ser338=)
c.1041A>G (p.Ser347=)
c.1896A>G (p.Ser632=)
c.1710A>G (p.Ser570=)
c.1629A>G (p.Ser543=)
c.1335A>G (p.Ser445=)
c.1716A>G (p.Ser572=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48687826T>GCA426125119GTF2A1L,LHCGR,STON1-GTF2A1Lc.1971A>C (p.Ser657=)
c.*283A>C (n.*283A>C)
c.3441+16146T>G (n.3441+16146T>G)
c.*715A>C (n.*715A>C)
c.1890A>C (p.Ser630=)
c.276+16146T>G (n.276+16146T>G)
c.*220+6398A>C (n.*220+6398A>C)
c.1014A>C (p.Ser338=)
c.1041A>C (p.Ser347=)
c.1896A>C (p.Ser632=)
c.1710A>C (p.Ser570=)
c.1629A>C (p.Ser543=)
c.1335A>C (p.Ser445=)
c.1716A>C (p.Ser572=)
2g.48687826T=CA1248600856GTF2A1L,LHCGR,STON1-GTF2A1Lc.1971A= (p.Ser657=)
c.*283A= (n.*283A=)
c.3441+16146T= (n.3441+16146T=)
c.*715A= (n.*715A=)
c.1890A= (p.Ser630=)
c.276+16146T= (n.276+16146T=)
c.*220+6398A= (n.*220+6398A=)
c.1014A= (p.Ser338=)
c.1041A= (p.Ser347=)
c.1896A= (p.Ser632=)
c.1710A= (p.Ser570=)
c.1629A= (p.Ser543=)
c.1335A= (p.Ser445=)
c.1716A= (p.Ser572=)
2g.48687827G>ACA346743476GTF2A1L,LHCGR,STON1-GTF2A1Lc.1970C>T (p.Ser657Leu)
c.*282C>T (n.*282C>T)
c.3441+16147G>A (n.3441+16147G>A)
c.*714C>T (n.*714C>T)
c.1889C>T (p.Ser630Leu)
c.276+16147G>A (n.276+16147G>A)
c.*220+6397C>T (n.*220+6397C>T)
c.1013C>T (p.Ser338Leu)
c.1040C>T (p.Ser347Leu)
c.1895C>T (p.Ser632Leu)
c.1709C>T (p.Ser570Leu)
c.1628C>T (p.Ser543Leu)
c.1334C>T (p.Ser445Leu)
c.1715C>T (p.Ser572Leu)
2g.48687827G>CCA346743478GTF2A1L,LHCGR,STON1-GTF2A1Lc.1970C>G (p.Ser657Ter)
c.*282C>G (n.*282C>G)
c.3441+16147G>C (n.3441+16147G>C)
c.*714C>G (n.*714C>G)
c.1889C>G (p.Ser630Ter)
c.276+16147G>C (n.276+16147G>C)
c.*220+6397C>G (n.*220+6397C>G)
c.1013C>G (p.Ser338Ter)
c.1040C>G (p.Ser347Ter)
c.1895C>G (p.Ser632Ter)
c.1709C>G (p.Ser570Ter)
c.1628C>G (p.Ser543Ter)
c.1334C>G (p.Ser445Ter)
c.1715C>G (p.Ser572Ter)
2g.48687827G>TCA346743479GTF2A1L,LHCGR,STON1-GTF2A1Lc.1970C>A (p.Ser657Ter)
c.*282C>A (n.*282C>A)
c.3441+16147G>T (n.3441+16147G>T)
c.*714C>A (n.*714C>A)
c.1889C>A (p.Ser630Ter)
c.276+16147G>T (n.276+16147G>T)
c.*220+6397C>A (n.*220+6397C>A)
c.1013C>A (p.Ser338Ter)
c.1040C>A (p.Ser347Ter)
c.1895C>A (p.Ser632Ter)
c.1709C>A (p.Ser570Ter)
c.1628C>A (p.Ser543Ter)
c.1334C>A (p.Ser445Ter)
c.1715C>A (p.Ser572Ter)
2g.48687828A=CA1248600857GTF2A1L,LHCGR,STON1-GTF2A1Lc.1969T= (p.Ser657=)
c.*281T= (n.*281T=)
c.3441+16148A= (n.3441+16148A=)
c.*713T= (n.*713T=)
c.1888T= (p.Ser630=)
c.276+16148A= (n.276+16148A=)
c.*220+6396T= (n.*220+6396T=)
c.1012T= (p.Ser338=)
c.1039T= (p.Ser347=)
c.1894T= (p.Ser632=)
c.1708T= (p.Ser570=)
c.1627T= (p.Ser543=)
c.1333T= (p.Ser445=)
c.1714T= (p.Ser572=)
2g.48687828A>CCA346743482GTF2A1L,LHCGR,STON1-GTF2A1Lc.1969T>G (p.Ser657Ala)
c.*281T>G (n.*281T>G)
c.3441+16148A>C (n.3441+16148A>C)
c.*713T>G (n.*713T>G)
c.1888T>G (p.Ser630Ala)
c.276+16148A>C (n.276+16148A>C)
c.*220+6396T>G (n.*220+6396T>G)
c.1012T>G (p.Ser338Ala)
c.1039T>G (p.Ser347Ala)
c.1894T>G (p.Ser632Ala)
c.1708T>G (p.Ser570Ala)
c.1627T>G (p.Ser543Ala)
c.1333T>G (p.Ser445Ala)
c.1714T>G (p.Ser572Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.48687828A>GCA346743483GTF2A1L,LHCGR,STON1-GTF2A1Lc.1969T>C (p.Ser657Pro)
c.*281T>C (n.*281T>C)
c.3441+16148A>G (n.3441+16148A>G)
c.*713T>C (n.*713T>C)
c.1888T>C (p.Ser630Pro)
c.276+16148A>G (n.276+16148A>G)
c.*220+6396T>C (n.*220+6396T>C)
c.1012T>C (p.Ser338Pro)
c.1039T>C (p.Ser347Pro)
c.1894T>C (p.Ser632Pro)
c.1708T>C (p.Ser570Pro)
c.1627T>C (p.Ser543Pro)
c.1333T>C (p.Ser445Pro)
c.1714T>C (p.Ser572Pro)
2g.48687828A>TCA346743484GTF2A1L,LHCGR,STON1-GTF2A1Lc.1969T>A (p.Ser657Thr)
c.*281T>A (n.*281T>A)
c.3441+16148A>T (n.3441+16148A>T)
c.*713T>A (n.*713T>A)
c.1888T>A (p.Ser630Thr)
c.276+16148A>T (n.276+16148A>T)
c.*220+6396T>A (n.*220+6396T>A)
c.1012T>A (p.Ser338Thr)
c.1039T>A (p.Ser347Thr)
c.1894T>A (p.Ser632Thr)
c.1708T>A (p.Ser570Thr)
c.1627T>A (p.Ser543Thr)
c.1333T>A (p.Ser445Thr)
c.1714T>A (p.Ser572Thr)
2g.48687829A>CCA346743485GTF2A1L,LHCGR,STON1-GTF2A1Lc.1968T>G (p.Phe656Leu)
c.*280T>G (n.*280T>G)
c.3441+16149A>C (n.3441+16149A>C)
c.*712T>G (n.*712T>G)
c.1887T>G (p.Phe629Leu)
c.276+16149A>C (n.276+16149A>C)
c.*220+6395T>G (n.*220+6395T>G)
c.1011T>G (p.Phe337Leu)
c.1038T>G (p.Phe346Leu)
c.1893T>G (p.Phe631Leu)
c.1707T>G (p.Phe569Leu)
c.1626T>G (p.Phe542Leu)
c.1332T>G (p.Phe444Leu)
c.1713T>G (p.Phe571Leu)
2g.48687829A>GCA426125126GTF2A1L,LHCGR,STON1-GTF2A1Lc.1968T>C (p.Phe656=)
c.*280T>C (n.*280T>C)
c.3441+16149A>G (n.3441+16149A>G)
c.*712T>C (n.*712T>C)
c.1887T>C (p.Phe629=)
c.276+16149A>G (n.276+16149A>G)
c.*220+6395T>C (n.*220+6395T>C)
c.1011T>C (p.Phe337=)
c.1038T>C (p.Phe346=)
c.1893T>C (p.Phe631=)
c.1707T>C (p.Phe569=)
c.1626T>C (p.Phe542=)
c.1332T>C (p.Phe444=)
c.1713T>C (p.Phe571=)
2g.48687829A>TCA346743486GTF2A1L,LHCGR,STON1-GTF2A1Lc.1968T>A (p.Phe656Leu)
c.*280T>A (n.*280T>A)
c.3441+16149A>T (n.3441+16149A>T)
c.*712T>A (n.*712T>A)
c.1887T>A (p.Phe629Leu)
c.276+16149A>T (n.276+16149A>T)
c.*220+6395T>A (n.*220+6395T>A)
c.1011T>A (p.Phe337Leu)
c.1038T>A (p.Phe346Leu)
c.1893T>A (p.Phe631Leu)
c.1707T>A (p.Phe569Leu)
c.1626T>A (p.Phe542Leu)
c.1332T>A (p.Phe444Leu)
c.1713T>A (p.Phe571Leu)
2g.48687830A=CA1248600858GTF2A1L,LHCGR,STON1-GTF2A1Lc.1967T= (p.Phe656=)
c.*279T= (n.*279T=)
c.3441+16150A= (n.3441+16150A=)
c.*711T= (n.*711T=)
c.1886T= (p.Phe629=)
c.276+16150A= (n.276+16150A=)
c.*220+6394T= (n.*220+6394T=)
c.1010T= (p.Phe337=)
c.1037T= (p.Phe346=)
c.1892T= (p.Phe631=)
c.1706T= (p.Phe569=)
c.1625T= (p.Phe542=)
c.1331T= (p.Phe444=)
c.1712T= (p.Phe571=)
2g.48687830A>CCA346743491GTF2A1L,LHCGR,STON1-GTF2A1Lc.1967T>G (p.Phe656Cys)
c.*279T>G (n.*279T>G)
c.3441+16150A>C (n.3441+16150A>C)
c.*711T>G (n.*711T>G)
c.1886T>G (p.Phe629Cys)
c.276+16150A>C (n.276+16150A>C)
c.*220+6394T>G (n.*220+6394T>G)
c.1010T>G (p.Phe337Cys)
c.1037T>G (p.Phe346Cys)
c.1892T>G (p.Phe631Cys)
c.1706T>G (p.Phe569Cys)
c.1625T>G (p.Phe542Cys)
c.1331T>G (p.Phe444Cys)
c.1712T>G (p.Phe571Cys)
2g.48687830A>GCA1652957GTF2A1L,LHCGR,STON1-GTF2A1Lc.1967T>C (p.Phe656Ser)
c.*279T>C (n.*279T>C)
c.3441+16150A>G (n.3441+16150A>G)
c.*711T>C (n.*711T>C)
c.1886T>C (p.Phe629Ser)
c.276+16150A>G (n.276+16150A>G)
c.*220+6394T>C (n.*220+6394T>C)
c.1010T>C (p.Phe337Ser)
c.1037T>C (p.Phe346Ser)
c.1892T>C (p.Phe631Ser)
c.1706T>C (p.Phe569Ser)
c.1625T>C (p.Phe542Ser)
c.1331T>C (p.Phe444Ser)
c.1712T>C (p.Phe571Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48687830A>TCA346743490GTF2A1L,LHCGR,STON1-GTF2A1Lc.1967T>A (p.Phe656Tyr)
c.*279T>A (n.*279T>A)
c.3441+16150A>T (n.3441+16150A>T)
c.*711T>A (n.*711T>A)
c.1886T>A (p.Phe629Tyr)
c.276+16150A>T (n.276+16150A>T)
c.*220+6394T>A (n.*220+6394T>A)
c.1010T>A (p.Phe337Tyr)
c.1037T>A (p.Phe346Tyr)
c.1892T>A (p.Phe631Tyr)
c.1706T>A (p.Phe569Tyr)
c.1625T>A (p.Phe542Tyr)
c.1331T>A (p.Phe444Tyr)
c.1712T>A (p.Phe571Tyr)
2g.48687831A>CCA346743497GTF2A1L,LHCGR,STON1-GTF2A1Lc.1966T>G (p.Phe656Val)
c.*278T>G (n.*278T>G)
c.3441+16151A>C (n.3441+16151A>C)
c.*710T>G (n.*710T>G)
c.1885T>G (p.Phe629Val)
c.276+16151A>C (n.276+16151A>C)
c.*220+6393T>G (n.*220+6393T>G)
c.1009T>G (p.Phe337Val)
c.1036T>G (p.Phe346Val)
c.1891T>G (p.Phe631Val)
c.1705T>G (p.Phe569Val)
c.1624T>G (p.Phe542Val)
c.1330T>G (p.Phe444Val)
c.1711T>G (p.Phe571Val)
2g.48687831A>GCA346743499GTF2A1L,LHCGR,STON1-GTF2A1Lc.1966T>C (p.Phe656Leu)
c.*278T>C (n.*278T>C)
c.3441+16151A>G (n.3441+16151A>G)
c.*710T>C (n.*710T>C)
c.1885T>C (p.Phe629Leu)
c.276+16151A>G (n.276+16151A>G)
c.*220+6393T>C (n.*220+6393T>C)
c.1009T>C (p.Phe337Leu)
c.1036T>C (p.Phe346Leu)
c.1891T>C (p.Phe631Leu)
c.1705T>C (p.Phe569Leu)
c.1624T>C (p.Phe542Leu)
c.1330T>C (p.Phe444Leu)
c.1711T>C (p.Phe571Leu)
2g.48687831A>TCA346743502GTF2A1L,LHCGR,STON1-GTF2A1Lc.1966T>A (p.Phe656Ile)
c.*278T>A (n.*278T>A)
c.3441+16151A>T (n.3441+16151A>T)
c.*710T>A (n.*710T>A)
c.1885T>A (p.Phe629Ile)
c.276+16151A>T (n.276+16151A>T)
c.*220+6393T>A (n.*220+6393T>A)
c.1009T>A (p.Phe337Ile)
c.1036T>A (p.Phe346Ile)
c.1891T>A (p.Phe631Ile)
c.1705T>A (p.Phe569Ile)
c.1624T>A (p.Phe542Ile)
c.1330T>A (p.Phe444Ile)
c.1711T>A (p.Phe571Ile)
2g.48687832A>CCA346743505GTF2A1L,LHCGR,STON1-GTF2A1Lc.1965T>G (p.Asp655Glu)
c.*277T>G (n.*277T>G)
c.3441+16152A>C (n.3441+16152A>C)
c.*709T>G (n.*709T>G)
c.1884T>G (p.Asp628Glu)
c.276+16152A>C (n.276+16152A>C)
c.*220+6392T>G (n.*220+6392T>G)
c.1008T>G (p.Asp336Glu)
c.1035T>G (p.Asp345Glu)
c.1890T>G (p.Asp630Glu)
c.1704T>G (p.Asp568Glu)
c.1623T>G (p.Asp541Glu)
c.1329T>G (p.Asp443Glu)
c.1710T>G (p.Asp570Glu)
2g.48687832A>GCA426125131GTF2A1L,LHCGR,STON1-GTF2A1Lc.1965T>C (p.Asp655=)
c.*277T>C (n.*277T>C)
c.3441+16152A>G (n.3441+16152A>G)
c.*709T>C (n.*709T>C)
c.1884T>C (p.Asp628=)
c.276+16152A>G (n.276+16152A>G)
c.*220+6392T>C (n.*220+6392T>C)
c.1008T>C (p.Asp336=)
c.1035T>C (p.Asp345=)
c.1890T>C (p.Asp630=)
c.1704T>C (p.Asp568=)
c.1623T>C (p.Asp541=)
c.1329T>C (p.Asp443=)
c.1710T>C (p.Asp570=)
2g.48687832A>TCA346743511GTF2A1L,LHCGR,STON1-GTF2A1Lc.1965T>A (p.Asp655Glu)
c.*277T>A (n.*277T>A)
c.3441+16152A>T (n.3441+16152A>T)
c.*709T>A (n.*709T>A)
c.1884T>A (p.Asp628Glu)
c.276+16152A>T (n.276+16152A>T)
c.*220+6392T>A (n.*220+6392T>A)
c.1008T>A (p.Asp336Glu)
c.1035T>A (p.Asp345Glu)
c.1890T>A (p.Asp630Glu)
c.1704T>A (p.Asp568Glu)
c.1623T>A (p.Asp541Glu)
c.1329T>A (p.Asp443Glu)
c.1710T>A (p.Asp570Glu)

Number of alleles fetched