Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.48687861G>ACA1652966GTF2A1L,LHCGR,STON1-GTF2A1Lc.1936C>T (p.Arg646Cys)
c.*248C>T (n.*248C>T)
c.3441+16181G>A (n.3441+16181G>A)
c.*680C>T (n.*680C>T)
c.1855C>T (p.Arg619Cys)
c.276+16181G>A (n.276+16181G>A)
c.*220+6363C>T (n.*220+6363C>T)
c.979C>T (p.Arg327Cys)
c.1006C>T (p.Arg336Cys)
c.1861C>T (p.Arg621Cys)
c.1675C>T (p.Arg559Cys)
c.1594C>T (p.Arg532Cys)
c.1300C>T (p.Arg434Cys)
c.1681C>T (p.Arg561Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48687861G>CCA346743664GTF2A1L,LHCGR,STON1-GTF2A1Lc.1936C>G (p.Arg646Gly)
c.*248C>G (n.*248C>G)
c.3441+16181G>C (n.3441+16181G>C)
c.*680C>G (n.*680C>G)
c.1855C>G (p.Arg619Gly)
c.276+16181G>C (n.276+16181G>C)
c.*220+6363C>G (n.*220+6363C>G)
c.979C>G (p.Arg327Gly)
c.1006C>G (p.Arg336Gly)
c.1861C>G (p.Arg621Gly)
c.1675C>G (p.Arg559Gly)
c.1594C>G (p.Arg532Gly)
c.1300C>G (p.Arg434Gly)
c.1681C>G (p.Arg561Gly)
2g.48687861G=CA1248600879GTF2A1L,LHCGR,STON1-GTF2A1Lc.1936C= (p.Arg646=)
c.*248C= (n.*248C=)
c.3441+16181G= (n.3441+16181G=)
c.*680C= (n.*680C=)
c.1855C= (p.Arg619=)
c.276+16181G= (n.276+16181G=)
c.*220+6363C= (n.*220+6363C=)
c.979C= (p.Arg327=)
c.1006C= (p.Arg336=)
c.1861C= (p.Arg621=)
c.1675C= (p.Arg559=)
c.1594C= (p.Arg532=)
c.1300C= (p.Arg434=)
c.1681C= (p.Arg561=)
2g.48687861G>TCA346743666GTF2A1L,LHCGR,STON1-GTF2A1Lc.1936C>A (p.Arg646Ser)
c.*248C>A (n.*248C>A)
c.3441+16181G>T (n.3441+16181G>T)
c.*680C>A (n.*680C>A)
c.1855C>A (p.Arg619Ser)
c.276+16181G>T (n.276+16181G>T)
c.*220+6363C>A (n.*220+6363C>A)
c.979C>A (p.Arg327Ser)
c.1006C>A (p.Arg336Ser)
c.1861C>A (p.Arg621Ser)
c.1675C>A (p.Arg559Ser)
c.1594C>A (p.Arg532Ser)
c.1300C>A (p.Arg434Ser)
c.1681C>A (p.Arg561Ser)
2g.48687862T>ACA346743671GTF2A1L,LHCGR,STON1-GTF2A1Lc.1935A>T (p.Lys645Asn)
c.*247A>T (n.*247A>T)
c.3441+16182T>A (n.3441+16182T>A)
c.*679A>T (n.*679A>T)
c.1854A>T (p.Lys618Asn)
c.276+16182T>A (n.276+16182T>A)
c.*220+6362A>T (n.*220+6362A>T)
c.978A>T (p.Lys326Asn)
c.1005A>T (p.Lys335Asn)
c.1860A>T (p.Lys620Asn)
c.1674A>T (p.Lys558Asn)
c.1593A>T (p.Lys531Asn)
c.1299A>T (p.Lys433Asn)
c.1680A>T (p.Lys560Asn)
2g.48687862T>CCA426125208GTF2A1L,LHCGR,STON1-GTF2A1Lc.1935A>G (p.Lys645=)
c.*247A>G (n.*247A>G)
c.3441+16182T>C (n.3441+16182T>C)
c.*679A>G (n.*679A>G)
c.1854A>G (p.Lys618=)
c.276+16182T>C (n.276+16182T>C)
c.*220+6362A>G (n.*220+6362A>G)
c.978A>G (p.Lys326=)
c.1005A>G (p.Lys335=)
c.1860A>G (p.Lys620=)
c.1674A>G (p.Lys558=)
c.1593A>G (p.Lys531=)
c.1299A>G (p.Lys433=)
c.1680A>G (p.Lys560=)
2g.48687862T>GCA346743669GTF2A1L,LHCGR,STON1-GTF2A1Lc.1935A>C (p.Lys645Asn)
c.*247A>C (n.*247A>C)
c.3441+16182T>G (n.3441+16182T>G)
c.*679A>C (n.*679A>C)
c.1854A>C (p.Lys618Asn)
c.276+16182T>G (n.276+16182T>G)
c.*220+6362A>C (n.*220+6362A>C)
c.978A>C (p.Lys326Asn)
c.1005A>C (p.Lys335Asn)
c.1860A>C (p.Lys620Asn)
c.1674A>C (p.Lys558Asn)
c.1593A>C (p.Lys531Asn)
c.1299A>C (p.Lys433Asn)
c.1680A>C (p.Lys560Asn)
2g.48687863T>ACA346743673GTF2A1L,LHCGR,STON1-GTF2A1Lc.1934A>T (p.Lys645Ile)
c.*246A>T (n.*246A>T)
c.3441+16183T>A (n.3441+16183T>A)
c.*678A>T (n.*678A>T)
c.1853A>T (p.Lys618Ile)
c.276+16183T>A (n.276+16183T>A)
c.*220+6361A>T (n.*220+6361A>T)
c.977A>T (p.Lys326Ile)
c.1004A>T (p.Lys335Ile)
c.1859A>T (p.Lys620Ile)
c.1673A>T (p.Lys558Ile)
c.1592A>T (p.Lys531Ile)
c.1298A>T (p.Lys433Ile)
c.1679A>T (p.Lys560Ile)
2g.48687863T>CCA346743677GTF2A1L,LHCGR,STON1-GTF2A1Lc.1934A>G (p.Lys645Arg)
c.*246A>G (n.*246A>G)
c.3441+16183T>C (n.3441+16183T>C)
c.*678A>G (n.*678A>G)
c.1853A>G (p.Lys618Arg)
c.276+16183T>C (n.276+16183T>C)
c.*220+6361A>G (n.*220+6361A>G)
c.977A>G (p.Lys326Arg)
c.1004A>G (p.Lys335Arg)
c.1859A>G (p.Lys620Arg)
c.1673A>G (p.Lys558Arg)
c.1592A>G (p.Lys531Arg)
c.1298A>G (p.Lys433Arg)
c.1679A>G (p.Lys560Arg)
2g.48687863T>GCA346743675GTF2A1L,LHCGR,STON1-GTF2A1Lc.1934A>C (p.Lys645Thr)
c.*246A>C (n.*246A>C)
c.3441+16183T>G (n.3441+16183T>G)
c.*678A>C (n.*678A>C)
c.1853A>C (p.Lys618Thr)
c.276+16183T>G (n.276+16183T>G)
c.*220+6361A>C (n.*220+6361A>C)
c.977A>C (p.Lys326Thr)
c.1004A>C (p.Lys335Thr)
c.1859A>C (p.Lys620Thr)
c.1673A>C (p.Lys558Thr)
c.1592A>C (p.Lys531Thr)
c.1298A>C (p.Lys433Thr)
c.1679A>C (p.Lys560Thr)
2g.48687864T>ACA346743679GTF2A1L,LHCGR,STON1-GTF2A1Lc.1933A>T (p.Lys645Ter)
c.*245A>T (n.*245A>T)
c.3441+16184T>A (n.3441+16184T>A)
c.*677A>T (n.*677A>T)
c.1852A>T (p.Lys618Ter)
c.276+16184T>A (n.276+16184T>A)
c.*220+6360A>T (n.*220+6360A>T)
c.976A>T (p.Lys326Ter)
c.1003A>T (p.Lys335Ter)
c.1858A>T (p.Lys620Ter)
c.1672A>T (p.Lys558Ter)
c.1591A>T (p.Lys531Ter)
c.1297A>T (p.Lys433Ter)
c.1678A>T (p.Lys560Ter)
2g.48687864T>CCA346743684GTF2A1L,LHCGR,STON1-GTF2A1Lc.1933A>G (p.Lys645Glu)
c.*245A>G (n.*245A>G)
c.3441+16184T>C (n.3441+16184T>C)
c.*677A>G (n.*677A>G)
c.1852A>G (p.Lys618Glu)
c.276+16184T>C (n.276+16184T>C)
c.*220+6360A>G (n.*220+6360A>G)
c.976A>G (p.Lys326Glu)
c.1003A>G (p.Lys335Glu)
c.1858A>G (p.Lys620Glu)
c.1672A>G (p.Lys558Glu)
c.1591A>G (p.Lys531Glu)
c.1297A>G (p.Lys433Glu)
c.1678A>G (p.Lys560Glu)
2g.48687864T>GCA346743681GTF2A1L,LHCGR,STON1-GTF2A1Lc.1933A>C (p.Lys645Gln)
c.*245A>C (n.*245A>C)
c.3441+16184T>G (n.3441+16184T>G)
c.*677A>C (n.*677A>C)
c.1852A>C (p.Lys618Gln)
c.276+16184T>G (n.276+16184T>G)
c.*220+6360A>C (n.*220+6360A>C)
c.976A>C (p.Lys326Gln)
c.1003A>C (p.Lys335Gln)
c.1858A>C (p.Lys620Gln)
c.1672A>C (p.Lys558Gln)
c.1591A>C (p.Lys531Gln)
c.1297A>C (p.Lys433Gln)
c.1678A>C (p.Lys560Gln)
 gnomAD v4
2g.48687865A>CCA346743686GTF2A1L,LHCGR,STON1-GTF2A1Lc.1932T>G (p.Cys644Trp)
c.*244T>G (n.*244T>G)
c.3441+16185A>C (n.3441+16185A>C)
c.*676T>G (n.*676T>G)
c.1851T>G (p.Cys617Trp)
c.276+16185A>C (n.276+16185A>C)
c.*220+6359T>G (n.*220+6359T>G)
c.975T>G (p.Cys325Trp)
c.1002T>G (p.Cys334Trp)
c.1857T>G (p.Cys619Trp)
c.1671T>G (p.Cys557Trp)
c.1590T>G (p.Cys530Trp)
c.1296T>G (p.Cys432Trp)
c.1677T>G (p.Cys559Trp)
2g.48687865A>GCA426125210GTF2A1L,LHCGR,STON1-GTF2A1Lc.1932T>C (p.Cys644=)
c.*244T>C (n.*244T>C)
c.3441+16185A>G (n.3441+16185A>G)
c.*676T>C (n.*676T>C)
c.1851T>C (p.Cys617=)
c.276+16185A>G (n.276+16185A>G)
c.*220+6359T>C (n.*220+6359T>C)
c.975T>C (p.Cys325=)
c.1002T>C (p.Cys334=)
c.1857T>C (p.Cys619=)
c.1671T>C (p.Cys557=)
c.1590T>C (p.Cys530=)
c.1296T>C (p.Cys432=)
c.1677T>C (p.Cys559=)
2g.48687865A>TCA346743687GTF2A1L,LHCGR,STON1-GTF2A1Lc.1932T>A (p.Cys644Ter)
c.*244T>A (n.*244T>A)
c.3441+16185A>T (n.3441+16185A>T)
c.*676T>A (n.*676T>A)
c.1851T>A (p.Cys617Ter)
c.276+16185A>T (n.276+16185A>T)
c.*220+6359T>A (n.*220+6359T>A)
c.975T>A (p.Cys325Ter)
c.1002T>A (p.Cys334Ter)
c.1857T>A (p.Cys619Ter)
c.1671T>A (p.Cys557Ter)
c.1590T>A (p.Cys530Ter)
c.1296T>A (p.Cys432Ter)
c.1677T>A (p.Cys559Ter)
2g.48687866C>ACA346743691GTF2A1L,LHCGR,STON1-GTF2A1Lc.1931G>T (p.Cys644Phe)
c.*243G>T (n.*243G>T)
c.3441+16186C>A (n.3441+16186C>A)
c.*675G>T (n.*675G>T)
c.1850G>T (p.Cys617Phe)
c.276+16186C>A (n.276+16186C>A)
c.*220+6358G>T (n.*220+6358G>T)
c.974G>T (p.Cys325Phe)
c.1001G>T (p.Cys334Phe)
c.1856G>T (p.Cys619Phe)
c.1670G>T (p.Cys557Phe)
c.1589G>T (p.Cys530Phe)
c.1295G>T (p.Cys432Phe)
c.1676G>T (p.Cys559Phe)
 gnomAD v4
2g.48687866C=CA1248600880GTF2A1L,LHCGR,STON1-GTF2A1Lc.1931G= (p.Cys644=)
c.*243G= (n.*243G=)
c.3441+16186C= (n.3441+16186C=)
c.*675G= (n.*675G=)
c.1850G= (p.Cys617=)
c.276+16186C= (n.276+16186C=)
c.*220+6358G= (n.*220+6358G=)
c.974G= (p.Cys325=)
c.1001G= (p.Cys334=)
c.1856G= (p.Cys619=)
c.1670G= (p.Cys557=)
c.1589G= (p.Cys530=)
c.1295G= (p.Cys432=)
c.1676G= (p.Cys559=)
2g.48687866C>GCA346743694GTF2A1L,LHCGR,STON1-GTF2A1Lc.1931G>C (p.Cys644Ser)
c.*243G>C (n.*243G>C)
c.3441+16186C>G (n.3441+16186C>G)
c.*675G>C (n.*675G>C)
c.1850G>C (p.Cys617Ser)
c.276+16186C>G (n.276+16186C>G)
c.*220+6358G>C (n.*220+6358G>C)
c.974G>C (p.Cys325Ser)
c.1001G>C (p.Cys334Ser)
c.1856G>C (p.Cys619Ser)
c.1670G>C (p.Cys557Ser)
c.1589G>C (p.Cys530Ser)
c.1295G>C (p.Cys432Ser)
c.1676G>C (p.Cys559Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.48687866C>TCA346743696GTF2A1L,LHCGR,STON1-GTF2A1Lc.1931G>A (p.Cys644Tyr)
c.*243G>A (n.*243G>A)
c.3441+16186C>T (n.3441+16186C>T)
c.*675G>A (n.*675G>A)
c.1850G>A (p.Cys617Tyr)
c.276+16186C>T (n.276+16186C>T)
c.*220+6358G>A (n.*220+6358G>A)
c.974G>A (p.Cys325Tyr)
c.1001G>A (p.Cys334Tyr)
c.1856G>A (p.Cys619Tyr)
c.1670G>A (p.Cys557Tyr)
c.1589G>A (p.Cys530Tyr)
c.1295G>A (p.Cys432Tyr)
c.1676G>A (p.Cys559Tyr)
 gnomAD v4
2g.48687867A=CA1248600881GTF2A1L,LHCGR,STON1-GTF2A1Lc.1930T= (p.Cys644=)
c.*242T= (n.*242T=)
c.3441+16187A= (n.3441+16187A=)
c.*674T= (n.*674T=)
c.1849T= (p.Cys617=)
c.276+16187A= (n.276+16187A=)
c.*220+6357T= (n.*220+6357T=)
c.973T= (p.Cys325=)
c.1000T= (p.Cys334=)
c.1855T= (p.Cys619=)
c.1669T= (p.Cys557=)
c.1588T= (p.Cys530=)
c.1294T= (p.Cys432=)
c.1675T= (p.Cys559=)
2g.48687867A>CCA346743698GTF2A1L,LHCGR,STON1-GTF2A1Lc.1930T>G (p.Cys644Gly)
c.*242T>G (n.*242T>G)
c.3441+16187A>C (n.3441+16187A>C)
c.*674T>G (n.*674T>G)
c.1849T>G (p.Cys617Gly)
c.276+16187A>C (n.276+16187A>C)
c.*220+6357T>G (n.*220+6357T>G)
c.973T>G (p.Cys325Gly)
c.1000T>G (p.Cys334Gly)
c.1855T>G (p.Cys619Gly)
c.1669T>G (p.Cys557Gly)
c.1588T>G (p.Cys530Gly)
c.1294T>G (p.Cys432Gly)
c.1675T>G (p.Cys559Gly)
 COSMIC
2g.48687867A>GCA1652967GTF2A1L,LHCGR,STON1-GTF2A1Lc.1930T>C (p.Cys644Arg)
c.*242T>C (n.*242T>C)
c.3441+16187A>G (n.3441+16187A>G)
c.*674T>C (n.*674T>C)
c.1849T>C (p.Cys617Arg)
c.276+16187A>G (n.276+16187A>G)
c.*220+6357T>C (n.*220+6357T>C)
c.973T>C (p.Cys325Arg)
c.1000T>C (p.Cys334Arg)
c.1855T>C (p.Cys619Arg)
c.1669T>C (p.Cys557Arg)
c.1588T>C (p.Cys530Arg)
c.1294T>C (p.Cys432Arg)
c.1675T>C (p.Cys559Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48687867A>TCA346743701GTF2A1L,LHCGR,STON1-GTF2A1Lc.1930T>A (p.Cys644Ser)
c.*242T>A (n.*242T>A)
c.3441+16187A>T (n.3441+16187A>T)
c.*674T>A (n.*674T>A)
c.1849T>A (p.Cys617Ser)
c.276+16187A>T (n.276+16187A>T)
c.*220+6357T>A (n.*220+6357T>A)
c.973T>A (p.Cys325Ser)
c.1000T>A (p.Cys334Ser)
c.1855T>A (p.Cys619Ser)
c.1669T>A (p.Cys557Ser)
c.1588T>A (p.Cys530Ser)
c.1294T>A (p.Cys432Ser)
c.1675T>A (p.Cys559Ser)
2g.48687868G>ACA426125219GTF2A1L,LHCGR,STON1-GTF2A1Lc.1929C>T (p.Cys643=)
c.*241C>T (n.*241C>T)
c.3441+16188G>A (n.3441+16188G>A)
c.*673C>T (n.*673C>T)
c.1848C>T (p.Cys616=)
c.276+16188G>A (n.276+16188G>A)
c.*220+6356C>T (n.*220+6356C>T)
c.972C>T (p.Cys324=)
c.999C>T (p.Cys333=)
c.1854C>T (p.Cys618=)
c.1668C>T (p.Cys556=)
c.1587C>T (p.Cys529=)
c.1293C>T (p.Cys431=)
c.1674C>T (p.Cys558=)
2g.48687868G>CCA346743704GTF2A1L,LHCGR,STON1-GTF2A1Lc.1929C>G (p.Cys643Trp)
c.*241C>G (n.*241C>G)
c.3441+16188G>C (n.3441+16188G>C)
c.*673C>G (n.*673C>G)
c.1848C>G (p.Cys616Trp)
c.276+16188G>C (n.276+16188G>C)
c.*220+6356C>G (n.*220+6356C>G)
c.972C>G (p.Cys324Trp)
c.999C>G (p.Cys333Trp)
c.1854C>G (p.Cys618Trp)
c.1668C>G (p.Cys556Trp)
c.1587C>G (p.Cys529Trp)
c.1293C>G (p.Cys431Trp)
c.1674C>G (p.Cys558Trp)
 gnomAD v4
2g.48687868G>TCA346743706GTF2A1L,LHCGR,STON1-GTF2A1Lc.1929C>A (p.Cys643Ter)
c.*241C>A (n.*241C>A)
c.3441+16188G>T (n.3441+16188G>T)
c.*673C>A (n.*673C>A)
c.1848C>A (p.Cys616Ter)
c.276+16188G>T (n.276+16188G>T)
c.*220+6356C>A (n.*220+6356C>A)
c.972C>A (p.Cys324Ter)
c.999C>A (p.Cys333Ter)
c.1854C>A (p.Cys618Ter)
c.1668C>A (p.Cys556Ter)
c.1587C>A (p.Cys529Ter)
c.1293C>A (p.Cys431Ter)
c.1674C>A (p.Cys558Ter)
 COSMIC
2g.48687869C>ACA346743709GTF2A1L,LHCGR,STON1-GTF2A1Lc.1928G>T (p.Cys643Phe)
c.*240G>T (n.*240G>T)
c.3441+16189C>A (n.3441+16189C>A)
c.*672G>T (n.*672G>T)
c.1847G>T (p.Cys616Phe)
c.276+16189C>A (n.276+16189C>A)
c.*220+6355G>T (n.*220+6355G>T)
c.971G>T (p.Cys324Phe)
c.998G>T (p.Cys333Phe)
c.1853G>T (p.Cys618Phe)
c.1667G>T (p.Cys556Phe)
c.1586G>T (p.Cys529Phe)
c.1292G>T (p.Cys431Phe)
c.1673G>T (p.Cys558Phe)
2g.48687869C=CA1248600882GTF2A1L,LHCGR,STON1-GTF2A1Lc.1928G= (p.Cys643=)
c.*240G= (n.*240G=)
c.3441+16189C= (n.3441+16189C=)
c.*672G= (n.*672G=)
c.1847G= (p.Cys616=)
c.276+16189C= (n.276+16189C=)
c.*220+6355G= (n.*220+6355G=)
c.971G= (p.Cys324=)
c.998G= (p.Cys333=)
c.1853G= (p.Cys618=)
c.1667G= (p.Cys556=)
c.1586G= (p.Cys529=)
c.1292G= (p.Cys431=)
c.1673G= (p.Cys558=)
2g.48687869C>GCA346743712GTF2A1L,LHCGR,STON1-GTF2A1Lc.1928G>C (p.Cys643Ser)
c.*240G>C (n.*240G>C)
c.3441+16189C>G (n.3441+16189C>G)
c.*672G>C (n.*672G>C)
c.1847G>C (p.Cys616Ser)
c.276+16189C>G (n.276+16189C>G)
c.*220+6355G>C (n.*220+6355G>C)
c.971G>C (p.Cys324Ser)
c.998G>C (p.Cys333Ser)
c.1853G>C (p.Cys618Ser)
c.1667G>C (p.Cys556Ser)
c.1586G>C (p.Cys529Ser)
c.1292G>C (p.Cys431Ser)
c.1673G>C (p.Cys558Ser)
2g.48687869C>TCA346743714GTF2A1L,LHCGR,STON1-GTF2A1Lc.1928G>A (p.Cys643Tyr)
c.*240G>A (n.*240G>A)
c.3441+16189C>T (n.3441+16189C>T)
c.*672G>A (n.*672G>A)
c.1847G>A (p.Cys616Tyr)
c.276+16189C>T (n.276+16189C>T)
c.*220+6355G>A (n.*220+6355G>A)
c.971G>A (p.Cys324Tyr)
c.998G>A (p.Cys333Tyr)
c.1853G>A (p.Cys618Tyr)
c.1667G>A (p.Cys556Tyr)
c.1586G>A (p.Cys529Tyr)
c.1292G>A (p.Cys431Tyr)
c.1673G>A (p.Cys558Tyr)
 dbSNP gnomAD v4
2g.48687870A>CCA346743720GTF2A1L,LHCGR,STON1-GTF2A1Lc.1927T>G (p.Cys643Gly)
c.*239T>G (n.*239T>G)
c.3441+16190A>C (n.3441+16190A>C)
c.*671T>G (n.*671T>G)
c.1846T>G (p.Cys616Gly)
c.276+16190A>C (n.276+16190A>C)
c.*220+6354T>G (n.*220+6354T>G)
c.970T>G (p.Cys324Gly)
c.997T>G (p.Cys333Gly)
c.1852T>G (p.Cys618Gly)
c.1666T>G (p.Cys556Gly)
c.1585T>G (p.Cys529Gly)
c.1291T>G (p.Cys431Gly)
c.1672T>G (p.Cys558Gly)
2g.48687870A>GCA346743716GTF2A1L,LHCGR,STON1-GTF2A1Lc.1927T>C (p.Cys643Arg)
c.*239T>C (n.*239T>C)
c.3441+16190A>G (n.3441+16190A>G)
c.*671T>C (n.*671T>C)
c.1846T>C (p.Cys616Arg)
c.276+16190A>G (n.276+16190A>G)
c.*220+6354T>C (n.*220+6354T>C)
c.970T>C (p.Cys324Arg)
c.997T>C (p.Cys333Arg)
c.1852T>C (p.Cys618Arg)
c.1666T>C (p.Cys556Arg)
c.1585T>C (p.Cys529Arg)
c.1291T>C (p.Cys431Arg)
c.1672T>C (p.Cys558Arg)
2g.48687870A>TCA346743718GTF2A1L,LHCGR,STON1-GTF2A1Lc.1927T>A (p.Cys643Ser)
c.*239T>A (n.*239T>A)
c.3441+16190A>T (n.3441+16190A>T)
c.*671T>A (n.*671T>A)
c.1846T>A (p.Cys616Ser)
c.276+16190A>T (n.276+16190A>T)
c.*220+6354T>A (n.*220+6354T>A)
c.970T>A (p.Cys324Ser)
c.997T>A (p.Cys333Ser)
c.1852T>A (p.Cys618Ser)
c.1666T>A (p.Cys556Ser)
c.1585T>A (p.Cys529Ser)
c.1291T>A (p.Cys431Ser)
c.1672T>A (p.Cys558Ser)
2g.48687871G>ACA426125221GTF2A1L,LHCGR,STON1-GTF2A1Lc.1926C>T (p.Gly642=)
c.*238C>T (n.*238C>T)
c.3441+16191G>A (n.3441+16191G>A)
c.*670C>T (n.*670C>T)
c.1845C>T (p.Gly615=)
c.276+16191G>A (n.276+16191G>A)
c.*220+6353C>T (n.*220+6353C>T)
c.969C>T (p.Gly323=)
c.996C>T (p.Gly332=)
c.1851C>T (p.Gly617=)
c.1665C>T (p.Gly555=)
c.1584C>T (p.Gly528=)
c.1290C>T (p.Gly430=)
c.1671C>T (p.Gly557=)
 gnomAD v4
2g.48687871G>CCA426125222GTF2A1L,LHCGR,STON1-GTF2A1Lc.1926C>G (p.Gly642=)
c.*238C>G (n.*238C>G)
c.3441+16191G>C (n.3441+16191G>C)
c.*670C>G (n.*670C>G)
c.1845C>G (p.Gly615=)
c.276+16191G>C (n.276+16191G>C)
c.*220+6353C>G (n.*220+6353C>G)
c.969C>G (p.Gly323=)
c.996C>G (p.Gly332=)
c.1851C>G (p.Gly617=)
c.1665C>G (p.Gly555=)
c.1584C>G (p.Gly528=)
c.1290C>G (p.Gly430=)
c.1671C>G (p.Gly557=)
2g.48687871G>TCA426125224GTF2A1L,LHCGR,STON1-GTF2A1Lc.1926C>A (p.Gly642=)
c.*238C>A (n.*238C>A)
c.3441+16191G>T (n.3441+16191G>T)
c.*670C>A (n.*670C>A)
c.1845C>A (p.Gly615=)
c.276+16191G>T (n.276+16191G>T)
c.*220+6353C>A (n.*220+6353C>A)
c.969C>A (p.Gly323=)
c.996C>A (p.Gly332=)
c.1851C>A (p.Gly617=)
c.1665C>A (p.Gly555=)
c.1584C>A (p.Gly528=)
c.1290C>A (p.Gly430=)
c.1671C>A (p.Gly557=)
2g.48687872C>ACA346743723GTF2A1L,LHCGR,STON1-GTF2A1Lc.1925G>T (p.Gly642Val)
c.*237G>T (n.*237G>T)
c.3441+16192C>A (n.3441+16192C>A)
c.*669G>T (n.*669G>T)
c.1844G>T (p.Gly615Val)
c.276+16192C>A (n.276+16192C>A)
c.*220+6352G>T (n.*220+6352G>T)
c.968G>T (p.Gly323Val)
c.995G>T (p.Gly332Val)
c.1850G>T (p.Gly617Val)
c.1664G>T (p.Gly555Val)
c.1583G>T (p.Gly528Val)
c.1289G>T (p.Gly430Val)
c.1670G>T (p.Gly557Val)
 dbSNP gnomAD v3 gnomAD v4
2g.48687872C=CA1248600883GTF2A1L,LHCGR,STON1-GTF2A1Lc.1925G= (p.Gly642=)
c.*237G= (n.*237G=)
c.3441+16192C= (n.3441+16192C=)
c.*669G= (n.*669G=)
c.1844G= (p.Gly615=)
c.276+16192C= (n.276+16192C=)
c.*220+6352G= (n.*220+6352G=)
c.968G= (p.Gly323=)
c.995G= (p.Gly332=)
c.1850G= (p.Gly617=)
c.1664G= (p.Gly555=)
c.1583G= (p.Gly528=)
c.1289G= (p.Gly430=)
c.1670G= (p.Gly557=)
2g.48687872C>GCA346743724GTF2A1L,LHCGR,STON1-GTF2A1Lc.1925G>C (p.Gly642Ala)
c.*237G>C (n.*237G>C)
c.3441+16192C>G (n.3441+16192C>G)
c.*669G>C (n.*669G>C)
c.1844G>C (p.Gly615Ala)
c.276+16192C>G (n.276+16192C>G)
c.*220+6352G>C (n.*220+6352G>C)
c.968G>C (p.Gly323Ala)
c.995G>C (p.Gly332Ala)
c.1850G>C (p.Gly617Ala)
c.1664G>C (p.Gly555Ala)
c.1583G>C (p.Gly528Ala)
c.1289G>C (p.Gly430Ala)
c.1670G>C (p.Gly557Ala)
2g.48687872C>TCA346743728GTF2A1L,LHCGR,STON1-GTF2A1Lc.1925G>A (p.Gly642Asp)
c.*237G>A (n.*237G>A)
c.3441+16192C>T (n.3441+16192C>T)
c.*669G>A (n.*669G>A)
c.1844G>A (p.Gly615Asp)
c.276+16192C>T (n.276+16192C>T)
c.*220+6352G>A (n.*220+6352G>A)
c.968G>A (p.Gly323Asp)
c.995G>A (p.Gly332Asp)
c.1850G>A (p.Gly617Asp)
c.1664G>A (p.Gly555Asp)
c.1583G>A (p.Gly528Asp)
c.1289G>A (p.Gly430Asp)
c.1670G>A (p.Gly557Asp)
 COSMIC
2g.48687873C>ACA346743730GTF2A1L,LHCGR,STON1-GTF2A1Lc.1924G>T (p.Gly642Cys)
c.*236G>T (n.*236G>T)
c.3441+16193C>A (n.3441+16193C>A)
c.*668G>T (n.*668G>T)
c.1843G>T (p.Gly615Cys)
c.276+16193C>A (n.276+16193C>A)
c.*220+6351G>T (n.*220+6351G>T)
c.967G>T (p.Gly323Cys)
c.994G>T (p.Gly332Cys)
c.1849G>T (p.Gly617Cys)
c.1663G>T (p.Gly555Cys)
c.1582G>T (p.Gly528Cys)
c.1288G>T (p.Gly430Cys)
c.1669G>T (p.Gly557Cys)
2g.48687873C=CA1248600884GTF2A1L,LHCGR,STON1-GTF2A1Lc.1924G= (p.Gly642=)
c.*236G= (n.*236G=)
c.3441+16193C= (n.3441+16193C=)
c.*668G= (n.*668G=)
c.1843G= (p.Gly615=)
c.276+16193C= (n.276+16193C=)
c.*220+6351G= (n.*220+6351G=)
c.967G= (p.Gly323=)
c.994G= (p.Gly332=)
c.1849G= (p.Gly617=)
c.1663G= (p.Gly555=)
c.1582G= (p.Gly528=)
c.1288G= (p.Gly430=)
c.1669G= (p.Gly557=)
2g.48687873C>GCA346743732GTF2A1L,LHCGR,STON1-GTF2A1Lc.1924G>C (p.Gly642Arg)
c.*236G>C (n.*236G>C)
c.3441+16193C>G (n.3441+16193C>G)
c.*668G>C (n.*668G>C)
c.1843G>C (p.Gly615Arg)
c.276+16193C>G (n.276+16193C>G)
c.*220+6351G>C (n.*220+6351G>C)
c.967G>C (p.Gly323Arg)
c.994G>C (p.Gly332Arg)
c.1849G>C (p.Gly617Arg)
c.1663G>C (p.Gly555Arg)
c.1582G>C (p.Gly528Arg)
c.1288G>C (p.Gly430Arg)
c.1669G>C (p.Gly557Arg)
2g.48687873C>TCA346743735GTF2A1L,LHCGR,STON1-GTF2A1Lc.1924G>A (p.Gly642Ser)
c.*236G>A (n.*236G>A)
c.3441+16193C>T (n.3441+16193C>T)
c.*668G>A (n.*668G>A)
c.1843G>A (p.Gly615Ser)
c.276+16193C>T (n.276+16193C>T)
c.*220+6351G>A (n.*220+6351G>A)
c.967G>A (p.Gly323Ser)
c.994G>A (p.Gly332Ser)
c.1849G>A (p.Gly617Ser)
c.1663G>A (p.Gly555Ser)
c.1582G>A (p.Gly528Ser)
c.1288G>A (p.Gly430Ser)
c.1669G>A (p.Gly557Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.48687874A>CCA346743738GTF2A1L,LHCGR,STON1-GTF2A1Lc.1923T>G (p.Phe641Leu)
c.*235T>G (n.*235T>G)
c.3441+16194A>C (n.3441+16194A>C)
c.*667T>G (n.*667T>G)
c.1842T>G (p.Phe614Leu)
c.276+16194A>C (n.276+16194A>C)
c.*220+6350T>G (n.*220+6350T>G)
c.966T>G (p.Phe322Leu)
c.993T>G (p.Phe331Leu)
c.1848T>G (p.Phe616Leu)
c.1662T>G (p.Phe554Leu)
c.1581T>G (p.Phe527Leu)
c.1287T>G (p.Phe429Leu)
c.1668T>G (p.Phe556Leu)
2g.48687874A>GCA426125235GTF2A1L,LHCGR,STON1-GTF2A1Lc.1923T>C (p.Phe641=)
c.*235T>C (n.*235T>C)
c.3441+16194A>G (n.3441+16194A>G)
c.*667T>C (n.*667T>C)
c.1842T>C (p.Phe614=)
c.276+16194A>G (n.276+16194A>G)
c.*220+6350T>C (n.*220+6350T>C)
c.966T>C (p.Phe322=)
c.993T>C (p.Phe331=)
c.1848T>C (p.Phe616=)
c.1662T>C (p.Phe554=)
c.1581T>C (p.Phe527=)
c.1287T>C (p.Phe429=)
c.1668T>C (p.Phe556=)
 gnomAD v4
2g.48687874A>TCA346743739GTF2A1L,LHCGR,STON1-GTF2A1Lc.1923T>A (p.Phe641Leu)
c.*235T>A (n.*235T>A)
c.3441+16194A>T (n.3441+16194A>T)
c.*667T>A (n.*667T>A)
c.1842T>A (p.Phe614Leu)
c.276+16194A>T (n.276+16194A>T)
c.*220+6350T>A (n.*220+6350T>A)
c.966T>A (p.Phe322Leu)
c.993T>A (p.Phe331Leu)
c.1848T>A (p.Phe616Leu)
c.1662T>A (p.Phe554Leu)
c.1581T>A (p.Phe527Leu)
c.1287T>A (p.Phe429Leu)
c.1668T>A (p.Phe556Leu)
2g.48687875A=CA1248600885GTF2A1L,LHCGR,STON1-GTF2A1Lc.1922T= (p.Phe641=)
c.*234T= (n.*234T=)
c.3441+16195A= (n.3441+16195A=)
c.*666T= (n.*666T=)
c.1841T= (p.Phe614=)
c.276+16195A= (n.276+16195A=)
c.*220+6349T= (n.*220+6349T=)
c.965T= (p.Phe322=)
c.992T= (p.Phe331=)
c.1847T= (p.Phe616=)
c.1661T= (p.Phe554=)
c.1580T= (p.Phe527=)
c.1286T= (p.Phe429=)
c.1667T= (p.Phe556=)
2g.48687875A>CCA1652968GTF2A1L,LHCGR,STON1-GTF2A1Lc.1922T>G (p.Phe641Cys)
c.*234T>G (n.*234T>G)
c.3441+16195A>C (n.3441+16195A>C)
c.*666T>G (n.*666T>G)
c.1841T>G (p.Phe614Cys)
c.276+16195A>C (n.276+16195A>C)
c.*220+6349T>G (n.*220+6349T>G)
c.965T>G (p.Phe322Cys)
c.992T>G (p.Phe331Cys)
c.1847T>G (p.Phe616Cys)
c.1661T>G (p.Phe554Cys)
c.1580T>G (p.Phe527Cys)
c.1286T>G (p.Phe429Cys)
c.1667T>G (p.Phe556Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC

Number of alleles fetched