Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.48687988G>ACA426125694GTF2A1L,LHCGR,STON1-GTF2A1Lc.1809C>T (p.Asn603=)
c.*121C>T (n.*121C>T)
c.3441+16308G>A (n.3441+16308G>A)
c.*553C>T (n.*553C>T)
c.1728C>T (p.Asn576=)
c.276+16308G>A (n.276+16308G>A)
c.*220+6236C>T (n.*220+6236C>T)
c.852C>T (p.Asn284=)
c.879C>T (p.Asn293=)
c.1734C>T (p.Asn578=)
c.1548C>T (p.Asn516=)
c.1467C>T (p.Asn489=)
c.1173C>T (p.Asn391=)
c.1554C>T (p.Asn518=)
2g.48687988G>CCA346744418GTF2A1L,LHCGR,STON1-GTF2A1Lc.1809C>G (p.Asn603Lys)
c.*121C>G (n.*121C>G)
c.3441+16308G>C (n.3441+16308G>C)
c.*553C>G (n.*553C>G)
c.1728C>G (p.Asn576Lys)
c.276+16308G>C (n.276+16308G>C)
c.*220+6236C>G (n.*220+6236C>G)
c.852C>G (p.Asn284Lys)
c.879C>G (p.Asn293Lys)
c.1734C>G (p.Asn578Lys)
c.1548C>G (p.Asn516Lys)
c.1467C>G (p.Asn489Lys)
c.1173C>G (p.Asn391Lys)
c.1554C>G (p.Asn518Lys)
2g.48687988G>TCA346744420GTF2A1L,LHCGR,STON1-GTF2A1Lc.1809C>A (p.Asn603Lys)
c.*121C>A (n.*121C>A)
c.3441+16308G>T (n.3441+16308G>T)
c.*553C>A (n.*553C>A)
c.1728C>A (p.Asn576Lys)
c.276+16308G>T (n.276+16308G>T)
c.*220+6236C>A (n.*220+6236C>A)
c.852C>A (p.Asn284Lys)
c.879C>A (p.Asn293Lys)
c.1734C>A (p.Asn578Lys)
c.1548C>A (p.Asn516Lys)
c.1467C>A (p.Asn489Lys)
c.1173C>A (p.Asn391Lys)
c.1554C>A (p.Asn518Lys)
2g.48687989T>ACA346744421GTF2A1L,LHCGR,STON1-GTF2A1Lc.1808A>T (p.Asn603Ile)
c.*120A>T (n.*120A>T)
c.3441+16309T>A (n.3441+16309T>A)
c.*552A>T (n.*552A>T)
c.1727A>T (p.Asn576Ile)
c.276+16309T>A (n.276+16309T>A)
c.*220+6235A>T (n.*220+6235A>T)
c.851A>T (p.Asn284Ile)
c.878A>T (p.Asn293Ile)
c.1733A>T (p.Asn578Ile)
c.1547A>T (p.Asn516Ile)
c.1466A>T (p.Asn489Ile)
c.1172A>T (p.Asn391Ile)
c.1553A>T (p.Asn518Ile)
2g.48687989T>CCA346744424GTF2A1L,LHCGR,STON1-GTF2A1Lc.1808A>G (p.Asn603Ser)
c.*120A>G (n.*120A>G)
c.3441+16309T>C (n.3441+16309T>C)
c.*552A>G (n.*552A>G)
c.1727A>G (p.Asn576Ser)
c.276+16309T>C (n.276+16309T>C)
c.*220+6235A>G (n.*220+6235A>G)
c.851A>G (p.Asn284Ser)
c.878A>G (p.Asn293Ser)
c.1733A>G (p.Asn578Ser)
c.1547A>G (p.Asn516Ser)
c.1466A>G (p.Asn489Ser)
c.1172A>G (p.Asn391Ser)
c.1553A>G (p.Asn518Ser)
 gnomAD v4
2g.48687989T>GCA346744425GTF2A1L,LHCGR,STON1-GTF2A1Lc.1808A>C (p.Asn603Thr)
c.*120A>C (n.*120A>C)
c.3441+16309T>G (n.3441+16309T>G)
c.*552A>C (n.*552A>C)
c.1727A>C (p.Asn576Thr)
c.276+16309T>G (n.276+16309T>G)
c.*220+6235A>C (n.*220+6235A>C)
c.851A>C (p.Asn284Thr)
c.878A>C (p.Asn293Thr)
c.1733A>C (p.Asn578Thr)
c.1547A>C (p.Asn516Thr)
c.1466A>C (p.Asn489Thr)
c.1172A>C (p.Asn391Thr)
c.1553A>C (p.Asn518Thr)
 dbSNP
2g.48687989T=CA1248600936GTF2A1L,LHCGR,STON1-GTF2A1Lc.1808A= (p.Asn603=)
c.*120A= (n.*120A=)
c.3441+16309T= (n.3441+16309T=)
c.*552A= (n.*552A=)
c.1727A= (p.Asn576=)
c.276+16309T= (n.276+16309T=)
c.*220+6235A= (n.*220+6235A=)
c.851A= (p.Asn284=)
c.878A= (p.Asn293=)
c.1733A= (p.Asn578=)
c.1547A= (p.Asn516=)
c.1466A= (p.Asn489=)
c.1172A= (p.Asn391=)
c.1553A= (p.Asn518=)
2g.48687990T>ACA346744433GTF2A1L,LHCGR,STON1-GTF2A1Lc.1807A>T (p.Asn603Tyr)
c.*119A>T (n.*119A>T)
c.3441+16310T>A (n.3441+16310T>A)
c.*551A>T (n.*551A>T)
c.1726A>T (p.Asn576Tyr)
c.276+16310T>A (n.276+16310T>A)
c.*220+6234A>T (n.*220+6234A>T)
c.850A>T (p.Asn284Tyr)
c.877A>T (p.Asn293Tyr)
c.1732A>T (p.Asn578Tyr)
c.1546A>T (p.Asn516Tyr)
c.1465A>T (p.Asn489Tyr)
c.1171A>T (p.Asn391Tyr)
c.1552A>T (p.Asn518Tyr)
2g.48687990T>CCA346744430GTF2A1L,LHCGR,STON1-GTF2A1Lc.1807A>G (p.Asn603Asp)
c.*119A>G (n.*119A>G)
c.3441+16310T>C (n.3441+16310T>C)
c.*551A>G (n.*551A>G)
c.1726A>G (p.Asn576Asp)
c.276+16310T>C (n.276+16310T>C)
c.*220+6234A>G (n.*220+6234A>G)
c.850A>G (p.Asn284Asp)
c.877A>G (p.Asn293Asp)
c.1732A>G (p.Asn578Asp)
c.1546A>G (p.Asn516Asp)
c.1465A>G (p.Asn489Asp)
c.1171A>G (p.Asn391Asp)
c.1552A>G (p.Asn518Asp)
2g.48687990T>GCA346744428GTF2A1L,LHCGR,STON1-GTF2A1Lc.1807A>C (p.Asn603His)
c.*119A>C (n.*119A>C)
c.3441+16310T>G (n.3441+16310T>G)
c.*551A>C (n.*551A>C)
c.1726A>C (p.Asn576His)
c.276+16310T>G (n.276+16310T>G)
c.*220+6234A>C (n.*220+6234A>C)
c.850A>C (p.Asn284His)
c.877A>C (p.Asn293His)
c.1732A>C (p.Asn578His)
c.1546A>C (p.Asn516His)
c.1465A>C (p.Asn489His)
c.1171A>C (p.Asn391His)
c.1552A>C (p.Asn518His)
2g.48687991G>ACA426125699GTF2A1L,LHCGR,STON1-GTF2A1Lc.1806C>T (p.Thr602=)
c.*118C>T (n.*118C>T)
c.3441+16311G>A (n.3441+16311G>A)
c.*550C>T (n.*550C>T)
c.1725C>T (p.Thr575=)
c.276+16311G>A (n.276+16311G>A)
c.*220+6233C>T (n.*220+6233C>T)
c.849C>T (p.Thr283=)
c.876C>T (p.Thr292=)
c.1731C>T (p.Thr577=)
c.1545C>T (p.Thr515=)
c.1464C>T (p.Thr488=)
c.1170C>T (p.Thr390=)
c.1551C>T (p.Thr517=)
 dbSNP gnomAD v2
2g.48687991G>CCA426125700GTF2A1L,LHCGR,STON1-GTF2A1Lc.1806C>G (p.Thr602=)
c.*118C>G (n.*118C>G)
c.3441+16311G>C (n.3441+16311G>C)
c.*550C>G (n.*550C>G)
c.1725C>G (p.Thr575=)
c.276+16311G>C (n.276+16311G>C)
c.*220+6233C>G (n.*220+6233C>G)
c.849C>G (p.Thr283=)
c.876C>G (p.Thr292=)
c.1731C>G (p.Thr577=)
c.1545C>G (p.Thr515=)
c.1464C>G (p.Thr488=)
c.1170C>G (p.Thr390=)
c.1551C>G (p.Thr517=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48687991G=CA1248600937GTF2A1L,LHCGR,STON1-GTF2A1Lc.1806C= (p.Thr602=)
c.*118C= (n.*118C=)
c.3441+16311G= (n.3441+16311G=)
c.*550C= (n.*550C=)
c.1725C= (p.Thr575=)
c.276+16311G= (n.276+16311G=)
c.*220+6233C= (n.*220+6233C=)
c.849C= (p.Thr283=)
c.876C= (p.Thr292=)
c.1731C= (p.Thr577=)
c.1545C= (p.Thr515=)
c.1464C= (p.Thr488=)
c.1170C= (p.Thr390=)
c.1551C= (p.Thr517=)
2g.48687991G>TCA426125701GTF2A1L,LHCGR,STON1-GTF2A1Lc.1806C>A (p.Thr602=)
c.*118C>A (n.*118C>A)
c.3441+16311G>T (n.3441+16311G>T)
c.*550C>A (n.*550C>A)
c.1725C>A (p.Thr575=)
c.276+16311G>T (n.276+16311G>T)
c.*220+6233C>A (n.*220+6233C>A)
c.849C>A (p.Thr283=)
c.876C>A (p.Thr292=)
c.1731C>A (p.Thr577=)
c.1545C>A (p.Thr515=)
c.1464C>A (p.Thr488=)
c.1170C>A (p.Thr390=)
c.1551C>A (p.Thr517=)
 dbSNP
2g.48687992G>ACA1652985GTF2A1L,LHCGR,STON1-GTF2A1Lc.1805C>T (p.Thr602Ile)
c.*117C>T (n.*117C>T)
c.3441+16312G>A (n.3441+16312G>A)
c.*549C>T (n.*549C>T)
c.1724C>T (p.Thr575Ile)
c.276+16312G>A (n.276+16312G>A)
c.*220+6232C>T (n.*220+6232C>T)
c.848C>T (p.Thr283Ile)
c.875C>T (p.Thr292Ile)
c.1730C>T (p.Thr577Ile)
c.1544C>T (p.Thr515Ile)
c.1463C>T (p.Thr488Ile)
c.1169C>T (p.Thr390Ile)
c.1550C>T (p.Thr517Ile)
 ClinVar dbSNP ExAC gnomAD v4
2g.48687992G>CCA346744435GTF2A1L,LHCGR,STON1-GTF2A1Lc.1805C>G (p.Thr602Ser)
c.*117C>G (n.*117C>G)
c.3441+16312G>C (n.3441+16312G>C)
c.*549C>G (n.*549C>G)
c.1724C>G (p.Thr575Ser)
c.276+16312G>C (n.276+16312G>C)
c.*220+6232C>G (n.*220+6232C>G)
c.848C>G (p.Thr283Ser)
c.875C>G (p.Thr292Ser)
c.1730C>G (p.Thr577Ser)
c.1544C>G (p.Thr515Ser)
c.1463C>G (p.Thr488Ser)
c.1169C>G (p.Thr390Ser)
c.1550C>G (p.Thr517Ser)
2g.48687992G=CA1248600938GTF2A1L,LHCGR,STON1-GTF2A1Lc.1805C= (p.Thr602=)
c.*117C= (n.*117C=)
c.3441+16312G= (n.3441+16312G=)
c.*549C= (n.*549C=)
c.1724C= (p.Thr575=)
c.276+16312G= (n.276+16312G=)
c.*220+6232C= (n.*220+6232C=)
c.848C= (p.Thr283=)
c.875C= (p.Thr292=)
c.1730C= (p.Thr577=)
c.1544C= (p.Thr515=)
c.1463C= (p.Thr488=)
c.1169C= (p.Thr390=)
c.1550C= (p.Thr517=)
2g.48687992G>TCA346744437GTF2A1L,LHCGR,STON1-GTF2A1Lc.1805C>A (p.Thr602Asn)
c.*117C>A (n.*117C>A)
c.3441+16312G>T (n.3441+16312G>T)
c.*549C>A (n.*549C>A)
c.1724C>A (p.Thr575Asn)
c.276+16312G>T (n.276+16312G>T)
c.*220+6232C>A (n.*220+6232C>A)
c.848C>A (p.Thr283Asn)
c.875C>A (p.Thr292Asn)
c.1730C>A (p.Thr577Asn)
c.1544C>A (p.Thr515Asn)
c.1463C>A (p.Thr488Asn)
c.1169C>A (p.Thr390Asn)
c.1550C>A (p.Thr517Asn)
 gnomAD v4
2g.48687993T>ACA346744441GTF2A1L,LHCGR,STON1-GTF2A1Lc.1804A>T (p.Thr602Ser)
c.*116A>T (n.*116A>T)
c.3441+16313T>A (n.3441+16313T>A)
c.*548A>T (n.*548A>T)
c.1723A>T (p.Thr575Ser)
c.276+16313T>A (n.276+16313T>A)
c.*220+6231A>T (n.*220+6231A>T)
c.847A>T (p.Thr283Ser)
c.874A>T (p.Thr292Ser)
c.1729A>T (p.Thr577Ser)
c.1543A>T (p.Thr515Ser)
c.1462A>T (p.Thr488Ser)
c.1168A>T (p.Thr390Ser)
c.1549A>T (p.Thr517Ser)
2g.48687993T>CCA346744443GTF2A1L,LHCGR,STON1-GTF2A1Lc.1804A>G (p.Thr602Ala)
c.*116A>G (n.*116A>G)
c.3441+16313T>C (n.3441+16313T>C)
c.*548A>G (n.*548A>G)
c.1723A>G (p.Thr575Ala)
c.276+16313T>C (n.276+16313T>C)
c.*220+6231A>G (n.*220+6231A>G)
c.847A>G (p.Thr283Ala)
c.874A>G (p.Thr292Ala)
c.1729A>G (p.Thr577Ala)
c.1543A>G (p.Thr515Ala)
c.1462A>G (p.Thr488Ala)
c.1168A>G (p.Thr390Ala)
c.1549A>G (p.Thr517Ala)
 gnomAD v4
2g.48687993T>GCA346744445GTF2A1L,LHCGR,STON1-GTF2A1Lc.1804A>C (p.Thr602Pro)
c.*116A>C (n.*116A>C)
c.3441+16313T>G (n.3441+16313T>G)
c.*548A>C (n.*548A>C)
c.1723A>C (p.Thr575Pro)
c.276+16313T>G (n.276+16313T>G)
c.*220+6231A>C (n.*220+6231A>C)
c.847A>C (p.Thr283Pro)
c.874A>C (p.Thr292Pro)
c.1729A>C (p.Thr577Pro)
c.1543A>C (p.Thr515Pro)
c.1462A>C (p.Thr488Pro)
c.1168A>C (p.Thr390Pro)
c.1549A>C (p.Thr517Pro)
2g.48687994T>ACA426125708GTF2A1L,LHCGR,STON1-GTF2A1Lc.1803A>T (p.Val601=)
c.*115A>T (n.*115A>T)
c.3441+16314T>A (n.3441+16314T>A)
c.*547A>T (n.*547A>T)
c.1722A>T (p.Val574=)
c.276+16314T>A (n.276+16314T>A)
c.*220+6230A>T (n.*220+6230A>T)
c.846A>T (p.Val282=)
c.873A>T (p.Val291=)
c.1728A>T (p.Val576=)
c.1542A>T (p.Val514=)
c.1461A>T (p.Val487=)
c.1167A>T (p.Val389=)
c.1548A>T (p.Val516=)
2g.48687994T>CCA426125709GTF2A1L,LHCGR,STON1-GTF2A1Lc.1803A>G (p.Val601=)
c.*115A>G (n.*115A>G)
c.3441+16314T>C (n.3441+16314T>C)
c.*547A>G (n.*547A>G)
c.1722A>G (p.Val574=)
c.276+16314T>C (n.276+16314T>C)
c.*220+6230A>G (n.*220+6230A>G)
c.846A>G (p.Val282=)
c.873A>G (p.Val291=)
c.1728A>G (p.Val576=)
c.1542A>G (p.Val514=)
c.1461A>G (p.Val487=)
c.1167A>G (p.Val389=)
c.1548A>G (p.Val516=)
2g.48687994T>GCA426125712GTF2A1L,LHCGR,STON1-GTF2A1Lc.1803A>C (p.Val601=)
c.*115A>C (n.*115A>C)
c.3441+16314T>G (n.3441+16314T>G)
c.*547A>C (n.*547A>C)
c.1722A>C (p.Val574=)
c.276+16314T>G (n.276+16314T>G)
c.*220+6230A>C (n.*220+6230A>C)
c.846A>C (p.Val282=)
c.873A>C (p.Val291=)
c.1728A>C (p.Val576=)
c.1542A>C (p.Val514=)
c.1461A>C (p.Val487=)
c.1167A>C (p.Val389=)
c.1548A>C (p.Val516=)
2g.48687995A>CCA346744446GTF2A1L,LHCGR,STON1-GTF2A1Lc.1802T>G (p.Val601Gly)
c.*114T>G (n.*114T>G)
c.3441+16315A>C (n.3441+16315A>C)
c.*546T>G (n.*546T>G)
c.1721T>G (p.Val574Gly)
c.276+16315A>C (n.276+16315A>C)
c.*220+6229T>G (n.*220+6229T>G)
c.845T>G (p.Val282Gly)
c.872T>G (p.Val291Gly)
c.1727T>G (p.Val576Gly)
c.1541T>G (p.Val514Gly)
c.1460T>G (p.Val487Gly)
c.1166T>G (p.Val389Gly)
c.1547T>G (p.Val516Gly)
2g.48687995A>GCA346744447GTF2A1L,LHCGR,STON1-GTF2A1Lc.1802T>C (p.Val601Ala)
c.*114T>C (n.*114T>C)
c.3441+16315A>G (n.3441+16315A>G)
c.*546T>C (n.*546T>C)
c.1721T>C (p.Val574Ala)
c.276+16315A>G (n.276+16315A>G)
c.*220+6229T>C (n.*220+6229T>C)
c.845T>C (p.Val282Ala)
c.872T>C (p.Val291Ala)
c.1727T>C (p.Val576Ala)
c.1541T>C (p.Val514Ala)
c.1460T>C (p.Val487Ala)
c.1166T>C (p.Val389Ala)
c.1547T>C (p.Val516Ala)
2g.48687995A>TCA346744448GTF2A1L,LHCGR,STON1-GTF2A1Lc.1802T>A (p.Val601Glu)
c.*114T>A (n.*114T>A)
c.3441+16315A>T (n.3441+16315A>T)
c.*546T>A (n.*546T>A)
c.1721T>A (p.Val574Glu)
c.276+16315A>T (n.276+16315A>T)
c.*220+6229T>A (n.*220+6229T>A)
c.845T>A (p.Val282Glu)
c.872T>A (p.Val291Glu)
c.1727T>A (p.Val576Glu)
c.1541T>A (p.Val514Glu)
c.1460T>A (p.Val487Glu)
c.1166T>A (p.Val389Glu)
c.1547T>A (p.Val516Glu)
 COSMIC
2g.48687996C>ACA346744449GTF2A1L,LHCGR,STON1-GTF2A1Lc.1801G>T (p.Val601Leu)
c.*113G>T (n.*113G>T)
c.3441+16316C>A (n.3441+16316C>A)
c.*545G>T (n.*545G>T)
c.1720G>T (p.Val574Leu)
c.276+16316C>A (n.276+16316C>A)
c.*220+6228G>T (n.*220+6228G>T)
c.844G>T (p.Val282Leu)
c.871G>T (p.Val291Leu)
c.1726G>T (p.Val576Leu)
c.1540G>T (p.Val514Leu)
c.1459G>T (p.Val487Leu)
c.1165G>T (p.Val389Leu)
c.1546G>T (p.Val516Leu)
2g.48687996C>GCA346744450GTF2A1L,LHCGR,STON1-GTF2A1Lc.1801G>C (p.Val601Leu)
c.*113G>C (n.*113G>C)
c.3441+16316C>G (n.3441+16316C>G)
c.*545G>C (n.*545G>C)
c.1720G>C (p.Val574Leu)
c.276+16316C>G (n.276+16316C>G)
c.*220+6228G>C (n.*220+6228G>C)
c.844G>C (p.Val282Leu)
c.871G>C (p.Val291Leu)
c.1726G>C (p.Val576Leu)
c.1540G>C (p.Val514Leu)
c.1459G>C (p.Val487Leu)
c.1165G>C (p.Val389Leu)
c.1546G>C (p.Val516Leu)
2g.48687996C>TCA346744452GTF2A1L,LHCGR,STON1-GTF2A1Lc.1801G>A (p.Val601Ile)
c.*113G>A (n.*113G>A)
c.3441+16316C>T (n.3441+16316C>T)
c.*545G>A (n.*545G>A)
c.1720G>A (p.Val574Ile)
c.276+16316C>T (n.276+16316C>T)
c.*220+6228G>A (n.*220+6228G>A)
c.844G>A (p.Val282Ile)
c.871G>A (p.Val291Ile)
c.1726G>A (p.Val576Ile)
c.1540G>A (p.Val514Ile)
c.1459G>A (p.Val487Ile)
c.1165G>A (p.Val389Ile)
c.1546G>A (p.Val516Ile)
2g.48687997T>ACA426125715GTF2A1L,LHCGR,STON1-GTF2A1Lc.1800A>T (p.Thr600=)
c.*112A>T (n.*112A>T)
c.3441+16317T>A (n.3441+16317T>A)
c.*544A>T (n.*544A>T)
c.1719A>T (p.Thr573=)
c.276+16317T>A (n.276+16317T>A)
c.*220+6227A>T (n.*220+6227A>T)
c.843A>T (p.Thr281=)
c.870A>T (p.Thr290=)
c.1725A>T (p.Thr575=)
c.1539A>T (p.Thr513=)
c.1458A>T (p.Thr486=)
c.1164A>T (p.Thr388=)
c.1545A>T (p.Thr515=)
2g.48687997T>CCA426125716GTF2A1L,LHCGR,STON1-GTF2A1Lc.1800A>G (p.Thr600=)
c.*112A>G (n.*112A>G)
c.3441+16317T>C (n.3441+16317T>C)
c.*544A>G (n.*544A>G)
c.1719A>G (p.Thr573=)
c.276+16317T>C (n.276+16317T>C)
c.*220+6227A>G (n.*220+6227A>G)
c.843A>G (p.Thr281=)
c.870A>G (p.Thr290=)
c.1725A>G (p.Thr575=)
c.1539A>G (p.Thr513=)
c.1458A>G (p.Thr486=)
c.1164A>G (p.Thr388=)
c.1545A>G (p.Thr515=)
 gnomAD v4
2g.48687997T>GCA426125719GTF2A1L,LHCGR,STON1-GTF2A1Lc.1800A>C (p.Thr600=)
c.*112A>C (n.*112A>C)
c.3441+16317T>G (n.3441+16317T>G)
c.*544A>C (n.*544A>C)
c.1719A>C (p.Thr573=)
c.276+16317T>G (n.276+16317T>G)
c.*220+6227A>C (n.*220+6227A>C)
c.843A>C (p.Thr281=)
c.870A>C (p.Thr290=)
c.1725A>C (p.Thr575=)
c.1539A>C (p.Thr513=)
c.1458A>C (p.Thr486=)
c.1164A>C (p.Thr388=)
c.1545A>C (p.Thr515=)
2g.48687998G>ACA1652986GTF2A1L,LHCGR,STON1-GTF2A1Lc.1799C>T (p.Thr600Ile)
c.*111C>T (n.*111C>T)
c.3441+16318G>A (n.3441+16318G>A)
c.*543C>T (n.*543C>T)
c.1718C>T (p.Thr573Ile)
c.276+16318G>A (n.276+16318G>A)
c.*220+6226C>T (n.*220+6226C>T)
c.842C>T (p.Thr281Ile)
c.869C>T (p.Thr290Ile)
c.1724C>T (p.Thr575Ile)
c.1538C>T (p.Thr513Ile)
c.1457C>T (p.Thr486Ile)
c.1163C>T (p.Thr388Ile)
c.1544C>T (p.Thr515Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48687998G>CCA346744455GTF2A1L,LHCGR,STON1-GTF2A1Lc.1799C>G (p.Thr600Arg)
c.*111C>G (n.*111C>G)
c.3441+16318G>C (n.3441+16318G>C)
c.*543C>G (n.*543C>G)
c.1718C>G (p.Thr573Arg)
c.276+16318G>C (n.276+16318G>C)
c.*220+6226C>G (n.*220+6226C>G)
c.842C>G (p.Thr281Arg)
c.869C>G (p.Thr290Arg)
c.1724C>G (p.Thr575Arg)
c.1538C>G (p.Thr513Arg)
c.1457C>G (p.Thr486Arg)
c.1163C>G (p.Thr388Arg)
c.1544C>G (p.Thr515Arg)
2g.48687998G=CA1248600939GTF2A1L,LHCGR,STON1-GTF2A1Lc.1799C= (p.Thr600=)
c.*111C= (n.*111C=)
c.3441+16318G= (n.3441+16318G=)
c.*543C= (n.*543C=)
c.1718C= (p.Thr573=)
c.276+16318G= (n.276+16318G=)
c.*220+6226C= (n.*220+6226C=)
c.842C= (p.Thr281=)
c.869C= (p.Thr290=)
c.1724C= (p.Thr575=)
c.1538C= (p.Thr513=)
c.1457C= (p.Thr486=)
c.1163C= (p.Thr388=)
c.1544C= (p.Thr515=)
2g.48687998G>TCA346744454GTF2A1L,LHCGR,STON1-GTF2A1Lc.1799C>A (p.Thr600Lys)
c.*111C>A (n.*111C>A)
c.3441+16318G>T (n.3441+16318G>T)
c.*543C>A (n.*543C>A)
c.1718C>A (p.Thr573Lys)
c.276+16318G>T (n.276+16318G>T)
c.*220+6226C>A (n.*220+6226C>A)
c.842C>A (p.Thr281Lys)
c.869C>A (p.Thr290Lys)
c.1724C>A (p.Thr575Lys)
c.1538C>A (p.Thr513Lys)
c.1457C>A (p.Thr486Lys)
c.1163C>A (p.Thr388Lys)
c.1544C>A (p.Thr515Lys)
2g.48687999T>ACA346744456GTF2A1L,LHCGR,STON1-GTF2A1Lc.1798A>T (p.Thr600Ser)
c.*110A>T (n.*110A>T)
c.3441+16319T>A (n.3441+16319T>A)
c.*542A>T (n.*542A>T)
c.1717A>T (p.Thr573Ser)
c.276+16319T>A (n.276+16319T>A)
c.*220+6225A>T (n.*220+6225A>T)
c.841A>T (p.Thr281Ser)
c.868A>T (p.Thr290Ser)
c.1723A>T (p.Thr575Ser)
c.1537A>T (p.Thr513Ser)
c.1456A>T (p.Thr486Ser)
c.1162A>T (p.Thr388Ser)
c.1543A>T (p.Thr515Ser)
2g.48687999T>CCA346744459GTF2A1L,LHCGR,STON1-GTF2A1Lc.1798A>G (p.Thr600Ala)
c.*110A>G (n.*110A>G)
c.3441+16319T>C (n.3441+16319T>C)
c.*542A>G (n.*542A>G)
c.1717A>G (p.Thr573Ala)
c.276+16319T>C (n.276+16319T>C)
c.*220+6225A>G (n.*220+6225A>G)
c.841A>G (p.Thr281Ala)
c.868A>G (p.Thr290Ala)
c.1723A>G (p.Thr575Ala)
c.1537A>G (p.Thr513Ala)
c.1456A>G (p.Thr486Ala)
c.1162A>G (p.Thr388Ala)
c.1543A>G (p.Thr515Ala)
2g.48687999T>GCA346744457GTF2A1L,LHCGR,STON1-GTF2A1Lc.1798A>C (p.Thr600Pro)
c.*110A>C (n.*110A>C)
c.3441+16319T>G (n.3441+16319T>G)
c.*542A>C (n.*542A>C)
c.1717A>C (p.Thr573Pro)
c.276+16319T>G (n.276+16319T>G)
c.*220+6225A>C (n.*220+6225A>C)
c.841A>C (p.Thr281Pro)
c.868A>C (p.Thr290Pro)
c.1723A>C (p.Thr575Pro)
c.1537A>C (p.Thr513Pro)
c.1456A>C (p.Thr486Pro)
c.1162A>C (p.Thr388Pro)
c.1543A>C (p.Thr515Pro)
2g.48688000G>ACA426125728GTF2A1L,LHCGR,STON1-GTF2A1Lc.1797C>T (p.Ile599=)
c.*109C>T (n.*109C>T)
c.3441+16320G>A (n.3441+16320G>A)
c.*541C>T (n.*541C>T)
c.1716C>T (p.Ile572=)
c.276+16320G>A (n.276+16320G>A)
c.*220+6224C>T (n.*220+6224C>T)
c.840C>T (p.Ile280=)
c.867C>T (p.Ile289=)
c.1722C>T (p.Ile574=)
c.1536C>T (p.Ile512=)
c.1455C>T (p.Ile485=)
c.1161C>T (p.Ile387=)
c.1542C>T (p.Ile514=)
 gnomAD v4
2g.48688000G>CCA346744460GTF2A1L,LHCGR,STON1-GTF2A1Lc.1797C>G (p.Ile599Met)
c.*109C>G (n.*109C>G)
c.3441+16320G>C (n.3441+16320G>C)
c.*541C>G (n.*541C>G)
c.1716C>G (p.Ile572Met)
c.276+16320G>C (n.276+16320G>C)
c.*220+6224C>G (n.*220+6224C>G)
c.840C>G (p.Ile280Met)
c.867C>G (p.Ile289Met)
c.1722C>G (p.Ile574Met)
c.1536C>G (p.Ile512Met)
c.1455C>G (p.Ile485Met)
c.1161C>G (p.Ile387Met)
c.1542C>G (p.Ile514Met)
 gnomAD v4
2g.48688000G=CA1248600940GTF2A1L,LHCGR,STON1-GTF2A1Lc.1797C= (p.Ile599=)
c.*109C= (n.*109C=)
c.3441+16320G= (n.3441+16320G=)
c.*541C= (n.*541C=)
c.1716C= (p.Ile572=)
c.276+16320G= (n.276+16320G=)
c.*220+6224C= (n.*220+6224C=)
c.840C= (p.Ile280=)
c.867C= (p.Ile289=)
c.1722C= (p.Ile574=)
c.1536C= (p.Ile512=)
c.1455C= (p.Ile485=)
c.1161C= (p.Ile387=)
c.1542C= (p.Ile514=)
2g.48688000G>TCA1652987GTF2A1L,LHCGR,STON1-GTF2A1Lc.1797C>A (p.Ile599=)
c.*109C>A (n.*109C>A)
c.3441+16320G>T (n.3441+16320G>T)
c.*541C>A (n.*541C>A)
c.1716C>A (p.Ile572=)
c.276+16320G>T (n.276+16320G>T)
c.*220+6224C>A (n.*220+6224C>A)
c.840C>A (p.Ile280=)
c.867C>A (p.Ile289=)
c.1722C>A (p.Ile574=)
c.1536C>A (p.Ile512=)
c.1455C>A (p.Ile485=)
c.1161C>A (p.Ile387=)
c.1542C>A (p.Ile514=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688001A=CA1248600941GTF2A1L,LHCGR,STON1-GTF2A1Lc.1796T= (p.Ile599=)
c.*108T= (n.*108T=)
c.3441+16321A= (n.3441+16321A=)
c.*540T= (n.*540T=)
c.1715T= (p.Ile572=)
c.276+16321A= (n.276+16321A=)
c.*220+6223T= (n.*220+6223T=)
c.839T= (p.Ile280=)
c.866T= (p.Ile289=)
c.1721T= (p.Ile574=)
c.1535T= (p.Ile512=)
c.1454T= (p.Ile485=)
c.1160T= (p.Ile387=)
c.1541T= (p.Ile514=)
2g.48688001A>CCA346744465GTF2A1L,LHCGR,STON1-GTF2A1Lc.1796T>G (p.Ile599Ser)
c.*108T>G (n.*108T>G)
c.3441+16321A>C (n.3441+16321A>C)
c.*540T>G (n.*540T>G)
c.1715T>G (p.Ile572Ser)
c.276+16321A>C (n.276+16321A>C)
c.*220+6223T>G (n.*220+6223T>G)
c.839T>G (p.Ile280Ser)
c.866T>G (p.Ile289Ser)
c.1721T>G (p.Ile574Ser)
c.1535T>G (p.Ile512Ser)
c.1454T>G (p.Ile485Ser)
c.1160T>G (p.Ile387Ser)
c.1541T>G (p.Ile514Ser)
2g.48688001A>GCA346744467GTF2A1L,LHCGR,STON1-GTF2A1Lc.1796T>C (p.Ile599Thr)
c.*108T>C (n.*108T>C)
c.3441+16321A>G (n.3441+16321A>G)
c.*540T>C (n.*540T>C)
c.1715T>C (p.Ile572Thr)
c.276+16321A>G (n.276+16321A>G)
c.*220+6223T>C (n.*220+6223T>C)
c.839T>C (p.Ile280Thr)
c.866T>C (p.Ile289Thr)
c.1721T>C (p.Ile574Thr)
c.1535T>C (p.Ile512Thr)
c.1454T>C (p.Ile485Thr)
c.1160T>C (p.Ile387Thr)
c.1541T>C (p.Ile514Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.48688001A>TCA1652988GTF2A1L,LHCGR,STON1-GTF2A1Lc.1796T>A (p.Ile599Asn)
c.*108T>A (n.*108T>A)
c.3441+16321A>T (n.3441+16321A>T)
c.*540T>A (n.*540T>A)
c.1715T>A (p.Ile572Asn)
c.276+16321A>T (n.276+16321A>T)
c.*220+6223T>A (n.*220+6223T>A)
c.839T>A (p.Ile280Asn)
c.866T>A (p.Ile289Asn)
c.1721T>A (p.Ile574Asn)
c.1535T>A (p.Ile512Asn)
c.1454T>A (p.Ile485Asn)
c.1160T>A (p.Ile387Asn)
c.1541T>A (p.Ile514Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688002T>ACA346744471GTF2A1L,LHCGR,STON1-GTF2A1Lc.1795A>T (p.Ile599Phe)
c.*107A>T (n.*107A>T)
c.3441+16322T>A (n.3441+16322T>A)
c.*539A>T (n.*539A>T)
c.1714A>T (p.Ile572Phe)
c.276+16322T>A (n.276+16322T>A)
c.*220+6222A>T (n.*220+6222A>T)
c.838A>T (p.Ile280Phe)
c.865A>T (p.Ile289Phe)
c.1720A>T (p.Ile574Phe)
c.1534A>T (p.Ile512Phe)
c.1453A>T (p.Ile485Phe)
c.1159A>T (p.Ile387Phe)
c.1540A>T (p.Ile514Phe)
2g.48688002T>CCA346744474GTF2A1L,LHCGR,STON1-GTF2A1Lc.1795A>G (p.Ile599Val)
c.*107A>G (n.*107A>G)
c.3441+16322T>C (n.3441+16322T>C)
c.*539A>G (n.*539A>G)
c.1714A>G (p.Ile572Val)
c.276+16322T>C (n.276+16322T>C)
c.*220+6222A>G (n.*220+6222A>G)
c.838A>G (p.Ile280Val)
c.865A>G (p.Ile289Val)
c.1720A>G (p.Ile574Val)
c.1534A>G (p.Ile512Val)
c.1453A>G (p.Ile485Val)
c.1159A>G (p.Ile387Val)
c.1540A>G (p.Ile514Val)
 gnomAD v4

Number of alleles fetched