Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
2g.48687833T>ACA346743514GTF2A1L,LHCGR,STON1-GTF2A1Lc.1964A>T (p.Asp655Val)
c.*276A>T (n.*276A>T)
c.3441+16153T>A (n.3441+16153T>A)
c.*708A>T (n.*708A>T)
c.1883A>T (p.Asp628Val)
c.276+16153T>A (n.276+16153T>A)
c.*220+6391A>T (n.*220+6391A>T)
c.1007A>T (p.Asp336Val)
c.1034A>T (p.Asp345Val)
c.1889A>T (p.Asp630Val)
c.1703A>T (p.Asp568Val)
c.1622A>T (p.Asp541Val)
c.1328A>T (p.Asp443Val)
c.1709A>T (p.Asp570Val)
2g.48687833T>CCA346743517GTF2A1L,LHCGR,STON1-GTF2A1Lc.1964A>G (p.Asp655Gly)
c.*276A>G (n.*276A>G)
c.3441+16153T>C (n.3441+16153T>C)
c.*708A>G (n.*708A>G)
c.1883A>G (p.Asp628Gly)
c.276+16153T>C (n.276+16153T>C)
c.*220+6391A>G (n.*220+6391A>G)
c.1007A>G (p.Asp336Gly)
c.1034A>G (p.Asp345Gly)
c.1889A>G (p.Asp630Gly)
c.1703A>G (p.Asp568Gly)
c.1622A>G (p.Asp541Gly)
c.1328A>G (p.Asp443Gly)
c.1709A>G (p.Asp570Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48687833T>GCA346743518GTF2A1L,LHCGR,STON1-GTF2A1Lc.1964A>C (p.Asp655Ala)
c.*276A>C (n.*276A>C)
c.3441+16153T>G (n.3441+16153T>G)
c.*708A>C (n.*708A>C)
c.1883A>C (p.Asp628Ala)
c.276+16153T>G (n.276+16153T>G)
c.*220+6391A>C (n.*220+6391A>C)
c.1007A>C (p.Asp336Ala)
c.1034A>C (p.Asp345Ala)
c.1889A>C (p.Asp630Ala)
c.1703A>C (p.Asp568Ala)
c.1622A>C (p.Asp541Ala)
c.1328A>C (p.Asp443Ala)
c.1709A>C (p.Asp570Ala)
2g.48687833T=CA1248600859GTF2A1L,LHCGR,STON1-GTF2A1Lc.1964A= (p.Asp655=)
c.*276A= (n.*276A=)
c.3441+16153T= (n.3441+16153T=)
c.*708A= (n.*708A=)
c.1883A= (p.Asp628=)
c.276+16153T= (n.276+16153T=)
c.*220+6391A= (n.*220+6391A=)
c.1007A= (p.Asp336=)
c.1034A= (p.Asp345=)
c.1889A= (p.Asp630=)
c.1703A= (p.Asp568=)
c.1622A= (p.Asp541=)
c.1328A= (p.Asp443=)
c.1709A= (p.Asp570=)
2g.48687834C>ACA346743521GTF2A1L,LHCGR,STON1-GTF2A1Lc.1963G>T (p.Asp655Tyr)
c.*275G>T (n.*275G>T)
c.3441+16154C>A (n.3441+16154C>A)
c.*707G>T (n.*707G>T)
c.1882G>T (p.Asp628Tyr)
c.276+16154C>A (n.276+16154C>A)
c.*220+6390G>T (n.*220+6390G>T)
c.1006G>T (p.Asp336Tyr)
c.1033G>T (p.Asp345Tyr)
c.1888G>T (p.Asp630Tyr)
c.1702G>T (p.Asp568Tyr)
c.1621G>T (p.Asp541Tyr)
c.1327G>T (p.Asp443Tyr)
c.1708G>T (p.Asp570Tyr)
 gnomAD v4 COSMIC
2g.48687834C=CA1248600860GTF2A1L,LHCGR,STON1-GTF2A1Lc.1963G= (p.Asp655=)
c.*275G= (n.*275G=)
c.3441+16154C= (n.3441+16154C=)
c.*707G= (n.*707G=)
c.1882G= (p.Asp628=)
c.276+16154C= (n.276+16154C=)
c.*220+6390G= (n.*220+6390G=)
c.1006G= (p.Asp336=)
c.1033G= (p.Asp345=)
c.1888G= (p.Asp630=)
c.1702G= (p.Asp568=)
c.1621G= (p.Asp541=)
c.1327G= (p.Asp443=)
c.1708G= (p.Asp570=)
2g.48687834C>GCA346743523GTF2A1L,LHCGR,STON1-GTF2A1Lc.1963G>C (p.Asp655His)
c.*275G>C (n.*275G>C)
c.3441+16154C>G (n.3441+16154C>G)
c.*707G>C (n.*707G>C)
c.1882G>C (p.Asp628His)
c.276+16154C>G (n.276+16154C>G)
c.*220+6390G>C (n.*220+6390G>C)
c.1006G>C (p.Asp336His)
c.1033G>C (p.Asp345His)
c.1888G>C (p.Asp630His)
c.1702G>C (p.Asp568His)
c.1621G>C (p.Asp541His)
c.1327G>C (p.Asp443His)
c.1708G>C (p.Asp570His)
 dbSNP gnomAD v4
2g.48687834C>TCA346743526GTF2A1L,LHCGR,STON1-GTF2A1Lc.1963G>A (p.Asp655Asn)
c.*275G>A (n.*275G>A)
c.3441+16154C>T (n.3441+16154C>T)
c.*707G>A (n.*707G>A)
c.1882G>A (p.Asp628Asn)
c.276+16154C>T (n.276+16154C>T)
c.*220+6390G>A (n.*220+6390G>A)
c.1006G>A (p.Asp336Asn)
c.1033G>A (p.Asp345Asn)
c.1888G>A (p.Asp630Asn)
c.1702G>A (p.Asp568Asn)
c.1621G>A (p.Asp541Asn)
c.1327G>A (p.Asp443Asn)
c.1708G>A (p.Asp570Asn)
2g.48687835T>ACA1652958GTF2A1L,LHCGR,STON1-GTF2A1Lc.1962A>T (p.Lys654Asn)
c.*274A>T (n.*274A>T)
c.3441+16155T>A (n.3441+16155T>A)
c.*706A>T (n.*706A>T)
c.1881A>T (p.Lys627Asn)
c.276+16155T>A (n.276+16155T>A)
c.*220+6389A>T (n.*220+6389A>T)
c.1005A>T (p.Lys335Asn)
c.1032A>T (p.Lys344Asn)
c.1887A>T (p.Lys629Asn)
c.1701A>T (p.Lys567Asn)
c.1620A>T (p.Lys540Asn)
c.1326A>T (p.Lys442Asn)
c.1707A>T (p.Lys569Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48687835T>CCA426125134GTF2A1L,LHCGR,STON1-GTF2A1Lc.1962A>G (p.Lys654=)
c.*274A>G (n.*274A>G)
c.3441+16155T>C (n.3441+16155T>C)
c.*706A>G (n.*706A>G)
c.1881A>G (p.Lys627=)
c.276+16155T>C (n.276+16155T>C)
c.*220+6389A>G (n.*220+6389A>G)
c.1005A>G (p.Lys335=)
c.1032A>G (p.Lys344=)
c.1887A>G (p.Lys629=)
c.1701A>G (p.Lys567=)
c.1620A>G (p.Lys540=)
c.1326A>G (p.Lys442=)
c.1707A>G (p.Lys569=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48687835T>GCA346743527GTF2A1L,LHCGR,STON1-GTF2A1Lc.1962A>C (p.Lys654Asn)
c.*274A>C (n.*274A>C)
c.3441+16155T>G (n.3441+16155T>G)
c.*706A>C (n.*706A>C)
c.1881A>C (p.Lys627Asn)
c.276+16155T>G (n.276+16155T>G)
c.*220+6389A>C (n.*220+6389A>C)
c.1005A>C (p.Lys335Asn)
c.1032A>C (p.Lys344Asn)
c.1887A>C (p.Lys629Asn)
c.1701A>C (p.Lys567Asn)
c.1620A>C (p.Lys540Asn)
c.1326A>C (p.Lys442Asn)
c.1707A>C (p.Lys569Asn)
2g.48687835T=CA1248600861GTF2A1L,LHCGR,STON1-GTF2A1Lc.1962A= (p.Lys654=)
c.*274A= (n.*274A=)
c.3441+16155T= (n.3441+16155T=)
c.*706A= (n.*706A=)
c.1881A= (p.Lys627=)
c.276+16155T= (n.276+16155T=)
c.*220+6389A= (n.*220+6389A=)
c.1005A= (p.Lys335=)
c.1032A= (p.Lys344=)
c.1887A= (p.Lys629=)
c.1701A= (p.Lys567=)
c.1620A= (p.Lys540=)
c.1326A= (p.Lys442=)
c.1707A= (p.Lys569=)
2g.48687836T>ACA346743533GTF2A1L,LHCGR,STON1-GTF2A1Lc.1961A>T (p.Lys654Ile)
c.*273A>T (n.*273A>T)
c.3441+16156T>A (n.3441+16156T>A)
c.*705A>T (n.*705A>T)
c.1880A>T (p.Lys627Ile)
c.276+16156T>A (n.276+16156T>A)
c.*220+6388A>T (n.*220+6388A>T)
c.1004A>T (p.Lys335Ile)
c.1031A>T (p.Lys344Ile)
c.1886A>T (p.Lys629Ile)
c.1700A>T (p.Lys567Ile)
c.1619A>T (p.Lys540Ile)
c.1325A>T (p.Lys442Ile)
c.1706A>T (p.Lys569Ile)
2g.48687836T>CCA346743537GTF2A1L,LHCGR,STON1-GTF2A1Lc.1961A>G (p.Lys654Arg)
c.*273A>G (n.*273A>G)
c.3441+16156T>C (n.3441+16156T>C)
c.*705A>G (n.*705A>G)
c.1880A>G (p.Lys627Arg)
c.276+16156T>C (n.276+16156T>C)
c.*220+6388A>G (n.*220+6388A>G)
c.1004A>G (p.Lys335Arg)
c.1031A>G (p.Lys344Arg)
c.1886A>G (p.Lys629Arg)
c.1700A>G (p.Lys567Arg)
c.1619A>G (p.Lys540Arg)
c.1325A>G (p.Lys442Arg)
c.1706A>G (p.Lys569Arg)
2g.48687836T>GCA346743534GTF2A1L,LHCGR,STON1-GTF2A1Lc.1961A>C (p.Lys654Thr)
c.*273A>C (n.*273A>C)
c.3441+16156T>G (n.3441+16156T>G)
c.*705A>C (n.*705A>C)
c.1880A>C (p.Lys627Thr)
c.276+16156T>G (n.276+16156T>G)
c.*220+6388A>C (n.*220+6388A>C)
c.1004A>C (p.Lys335Thr)
c.1031A>C (p.Lys344Thr)
c.1886A>C (p.Lys629Thr)
c.1700A>C (p.Lys567Thr)
c.1619A>C (p.Lys540Thr)
c.1325A>C (p.Lys442Thr)
c.1706A>C (p.Lys569Thr)
2g.48687837T>ACA346743541GTF2A1L,LHCGR,STON1-GTF2A1Lc.1960A>T (p.Lys654Ter)
c.*272A>T (n.*272A>T)
c.3441+16157T>A (n.3441+16157T>A)
c.*704A>T (n.*704A>T)
c.1879A>T (p.Lys627Ter)
c.276+16157T>A (n.276+16157T>A)
c.*220+6387A>T (n.*220+6387A>T)
c.1003A>T (p.Lys335Ter)
c.1030A>T (p.Lys344Ter)
c.1885A>T (p.Lys629Ter)
c.1699A>T (p.Lys567Ter)
c.1618A>T (p.Lys540Ter)
c.1324A>T (p.Lys442Ter)
c.1705A>T (p.Lys569Ter)
2g.48687837T>CCA346743543GTF2A1L,LHCGR,STON1-GTF2A1Lc.1960A>G (p.Lys654Glu)
c.*272A>G (n.*272A>G)
c.3441+16157T>C (n.3441+16157T>C)
c.*704A>G (n.*704A>G)
c.1879A>G (p.Lys627Glu)
c.276+16157T>C (n.276+16157T>C)
c.*220+6387A>G (n.*220+6387A>G)
c.1003A>G (p.Lys335Glu)
c.1030A>G (p.Lys344Glu)
c.1885A>G (p.Lys629Glu)
c.1699A>G (p.Lys567Glu)
c.1618A>G (p.Lys540Glu)
c.1324A>G (p.Lys442Glu)
c.1705A>G (p.Lys569Glu)
 dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched