Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.48687855C>ACA346743643GTF2A1L,LHCGR,STON1-GTF2A1Lc.1942G>T (p.Ala648Ser)
c.*254G>T (n.*254G>T)
c.3441+16175C>A (n.3441+16175C>A)
c.*686G>T (n.*686G>T)
c.1861G>T (p.Ala621Ser)
c.276+16175C>A (n.276+16175C>A)
c.*220+6369G>T (n.*220+6369G>T)
c.985G>T (p.Ala329Ser)
c.1012G>T (p.Ala338Ser)
c.1867G>T (p.Ala623Ser)
c.1681G>T (p.Ala561Ser)
c.1600G>T (p.Ala534Ser)
c.1306G>T (p.Ala436Ser)
c.1687G>T (p.Ala563Ser)
2g.48687855C>GCA346743648GTF2A1L,LHCGR,STON1-GTF2A1Lc.1942G>C (p.Ala648Pro)
c.*254G>C (n.*254G>C)
c.3441+16175C>G (n.3441+16175C>G)
c.*686G>C (n.*686G>C)
c.1861G>C (p.Ala621Pro)
c.276+16175C>G (n.276+16175C>G)
c.*220+6369G>C (n.*220+6369G>C)
c.985G>C (p.Ala329Pro)
c.1012G>C (p.Ala338Pro)
c.1867G>C (p.Ala623Pro)
c.1681G>C (p.Ala561Pro)
c.1600G>C (p.Ala534Pro)
c.1306G>C (p.Ala436Pro)
c.1687G>C (p.Ala563Pro)
2g.48687855C>TCA346743645GTF2A1L,LHCGR,STON1-GTF2A1Lc.1942G>A (p.Ala648Thr)
c.*254G>A (n.*254G>A)
c.3441+16175C>T (n.3441+16175C>T)
c.*686G>A (n.*686G>A)
c.1861G>A (p.Ala621Thr)
c.276+16175C>T (n.276+16175C>T)
c.*220+6369G>A (n.*220+6369G>A)
c.985G>A (p.Ala329Thr)
c.1012G>A (p.Ala338Thr)
c.1867G>A (p.Ala623Thr)
c.1681G>A (p.Ala561Thr)
c.1600G>A (p.Ala534Thr)
c.1306G>A (p.Ala436Thr)
c.1687G>A (p.Ala563Thr)
2g.48687856C>ACA426125182GTF2A1L,LHCGR,STON1-GTF2A1Lc.1941G>T (p.Arg647=)
c.*253G>T (n.*253G>T)
c.3441+16176C>A (n.3441+16176C>A)
c.*685G>T (n.*685G>T)
c.1860G>T (p.Arg620=)
c.276+16176C>A (n.276+16176C>A)
c.*220+6368G>T (n.*220+6368G>T)
c.984G>T (p.Arg328=)
c.1011G>T (p.Arg337=)
c.1866G>T (p.Arg622=)
c.1680G>T (p.Arg560=)
c.1599G>T (p.Arg533=)
c.1305G>T (p.Arg435=)
c.1686G>T (p.Arg562=)
2g.48687856C=CA1248600874GTF2A1L,LHCGR,STON1-GTF2A1Lc.1941G= (p.Arg647=)
c.*253G= (n.*253G=)
c.3441+16176C= (n.3441+16176C=)
c.*685G= (n.*685G=)
c.1860G= (p.Arg620=)
c.276+16176C= (n.276+16176C=)
c.*220+6368G= (n.*220+6368G=)
c.984G= (p.Arg328=)
c.1011G= (p.Arg337=)
c.1866G= (p.Arg622=)
c.1680G= (p.Arg560=)
c.1599G= (p.Arg533=)
c.1305G= (p.Arg435=)
c.1686G= (p.Arg562=)
2g.48687856C>GCA426125184GTF2A1L,LHCGR,STON1-GTF2A1Lc.1941G>C (p.Arg647=)
c.*253G>C (n.*253G>C)
c.3441+16176C>G (n.3441+16176C>G)
c.*685G>C (n.*685G>C)
c.1860G>C (p.Arg620=)
c.276+16176C>G (n.276+16176C>G)
c.*220+6368G>C (n.*220+6368G>C)
c.984G>C (p.Arg328=)
c.1011G>C (p.Arg337=)
c.1866G>C (p.Arg622=)
c.1680G>C (p.Arg560=)
c.1599G>C (p.Arg533=)
c.1305G>C (p.Arg435=)
c.1686G>C (p.Arg562=)
 dbSNP
2g.48687856C>TCA426125185GTF2A1L,LHCGR,STON1-GTF2A1Lc.1941G>A (p.Arg647=)
c.*253G>A (n.*253G>A)
c.3441+16176C>T (n.3441+16176C>T)
c.*685G>A (n.*685G>A)
c.1860G>A (p.Arg620=)
c.276+16176C>T (n.276+16176C>T)
c.*220+6368G>A (n.*220+6368G>A)
c.984G>A (p.Arg328=)
c.1011G>A (p.Arg337=)
c.1866G>A (p.Arg622=)
c.1680G>A (p.Arg560=)
c.1599G>A (p.Arg533=)
c.1305G>A (p.Arg435=)
c.1686G>A (p.Arg562=)
 COSMIC
2g.48687857C>ACA346743651GTF2A1L,LHCGR,STON1-GTF2A1Lc.1940G>T (p.Arg647Leu)
c.*252G>T (n.*252G>T)
c.3441+16177C>A (n.3441+16177C>A)
c.*684G>T (n.*684G>T)
c.1859G>T (p.Arg620Leu)
c.276+16177C>A (n.276+16177C>A)
c.*220+6367G>T (n.*220+6367G>T)
c.983G>T (p.Arg328Leu)
c.1010G>T (p.Arg337Leu)
c.1865G>T (p.Arg622Leu)
c.1679G>T (p.Arg560Leu)
c.1598G>T (p.Arg533Leu)
c.1304G>T (p.Arg435Leu)
c.1685G>T (p.Arg562Leu)
2g.48687857C=CA1248600875GTF2A1L,LHCGR,STON1-GTF2A1Lc.1940G= (p.Arg647=)
c.*252G= (n.*252G=)
c.3441+16177C= (n.3441+16177C=)
c.*684G= (n.*684G=)
c.1859G= (p.Arg620=)
c.276+16177C= (n.276+16177C=)
c.*220+6367G= (n.*220+6367G=)
c.983G= (p.Arg328=)
c.1010G= (p.Arg337=)
c.1865G= (p.Arg622=)
c.1679G= (p.Arg560=)
c.1598G= (p.Arg533=)
c.1304G= (p.Arg435=)
c.1685G= (p.Arg562=)
2g.48687857C>GCA1652963GTF2A1L,LHCGR,STON1-GTF2A1Lc.1940G>C (p.Arg647Pro)
c.*252G>C (n.*252G>C)
c.3441+16177C>G (n.3441+16177C>G)
c.*684G>C (n.*684G>C)
c.1859G>C (p.Arg620Pro)
c.276+16177C>G (n.276+16177C>G)
c.*220+6367G>C (n.*220+6367G>C)
c.983G>C (p.Arg328Pro)
c.1010G>C (p.Arg337Pro)
c.1865G>C (p.Arg622Pro)
c.1679G>C (p.Arg560Pro)
c.1598G>C (p.Arg533Pro)
c.1304G>C (p.Arg435Pro)
c.1685G>C (p.Arg562Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48687857C>TCA1652962GTF2A1L,LHCGR,STON1-GTF2A1Lc.1940G>A (p.Arg647Gln)
c.*252G>A (n.*252G>A)
c.3441+16177C>T (n.3441+16177C>T)
c.*684G>A (n.*684G>A)
c.1859G>A (p.Arg620Gln)
c.276+16177C>T (n.276+16177C>T)
c.*220+6367G>A (n.*220+6367G>A)
c.983G>A (p.Arg328Gln)
c.1010G>A (p.Arg337Gln)
c.1865G>A (p.Arg622Gln)
c.1679G>A (p.Arg560Gln)
c.1598G>A (p.Arg533Gln)
c.1304G>A (p.Arg435Gln)
c.1685G>A (p.Arg562Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48687858G>ACA1652964GTF2A1L,LHCGR,STON1-GTF2A1Lc.1939C>T (p.Arg647Trp)
c.*251C>T (n.*251C>T)
c.3441+16178G>A (n.3441+16178G>A)
c.*683C>T (n.*683C>T)
c.1858C>T (p.Arg620Trp)
c.276+16178G>A (n.276+16178G>A)
c.*220+6366C>T (n.*220+6366C>T)
c.982C>T (p.Arg328Trp)
c.1009C>T (p.Arg337Trp)
c.1864C>T (p.Arg622Trp)
c.1678C>T (p.Arg560Trp)
c.1597C>T (p.Arg533Trp)
c.1303C>T (p.Arg435Trp)
c.1684C>T (p.Arg562Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.48687858G>CCA346743654GTF2A1L,LHCGR,STON1-GTF2A1Lc.1939C>G (p.Arg647Gly)
c.*251C>G (n.*251C>G)
c.3441+16178G>C (n.3441+16178G>C)
c.*683C>G (n.*683C>G)
c.1858C>G (p.Arg620Gly)
c.276+16178G>C (n.276+16178G>C)
c.*220+6366C>G (n.*220+6366C>G)
c.982C>G (p.Arg328Gly)
c.1009C>G (p.Arg337Gly)
c.1864C>G (p.Arg622Gly)
c.1678C>G (p.Arg560Gly)
c.1597C>G (p.Arg533Gly)
c.1303C>G (p.Arg435Gly)
c.1684C>G (p.Arg562Gly)
2g.48687858G=CA1248600876GTF2A1L,LHCGR,STON1-GTF2A1Lc.1939C= (p.Arg647=)
c.*251C= (n.*251C=)
c.3441+16178G= (n.3441+16178G=)
c.*683C= (n.*683C=)
c.1858C= (p.Arg620=)
c.276+16178G= (n.276+16178G=)
c.*220+6366C= (n.*220+6366C=)
c.982C= (p.Arg328=)
c.1009C= (p.Arg337=)
c.1864C= (p.Arg622=)
c.1678C= (p.Arg560=)
c.1597C= (p.Arg533=)
c.1303C= (p.Arg435=)
c.1684C= (p.Arg562=)
2g.48687858G>TCA426125191GTF2A1L,LHCGR,STON1-GTF2A1Lc.1939C>A (p.Arg647=)
c.*251C>A (n.*251C>A)
c.3441+16178G>T (n.3441+16178G>T)
c.*683C>A (n.*683C>A)
c.1858C>A (p.Arg620=)
c.276+16178G>T (n.276+16178G>T)
c.*220+6366C>A (n.*220+6366C>A)
c.982C>A (p.Arg328=)
c.1009C>A (p.Arg337=)
c.1864C>A (p.Arg622=)
c.1678C>A (p.Arg560=)
c.1597C>A (p.Arg533=)
c.1303C>A (p.Arg435=)
c.1684C>A (p.Arg562=)
 gnomAD v4
2g.48687859A=CA1248600877GTF2A1L,LHCGR,STON1-GTF2A1Lc.1938T= (p.Arg646=)
c.*250T= (n.*250T=)
c.3441+16179A= (n.3441+16179A=)
c.*682T= (n.*682T=)
c.1857T= (p.Arg619=)
c.276+16179A= (n.276+16179A=)
c.*220+6365T= (n.*220+6365T=)
c.981T= (p.Arg327=)
c.1008T= (p.Arg336=)
c.1863T= (p.Arg621=)
c.1677T= (p.Arg559=)
c.1596T= (p.Arg532=)
c.1302T= (p.Arg434=)
c.1683T= (p.Arg561=)
2g.48687859A>CCA426125197GTF2A1L,LHCGR,STON1-GTF2A1Lc.1938T>G (p.Arg646=)
c.*250T>G (n.*250T>G)
c.3441+16179A>C (n.3441+16179A>C)
c.*682T>G (n.*682T>G)
c.1857T>G (p.Arg619=)
c.276+16179A>C (n.276+16179A>C)
c.*220+6365T>G (n.*220+6365T>G)
c.981T>G (p.Arg327=)
c.1008T>G (p.Arg336=)
c.1863T>G (p.Arg621=)
c.1677T>G (p.Arg559=)
c.1596T>G (p.Arg532=)
c.1302T>G (p.Arg434=)
c.1683T>G (p.Arg561=)
2g.48687859A>GCA426125194GTF2A1L,LHCGR,STON1-GTF2A1Lc.1938T>C (p.Arg646=)
c.*250T>C (n.*250T>C)
c.3441+16179A>G (n.3441+16179A>G)
c.*682T>C (n.*682T>C)
c.1857T>C (p.Arg619=)
c.276+16179A>G (n.276+16179A>G)
c.*220+6365T>C (n.*220+6365T>C)
c.981T>C (p.Arg327=)
c.1008T>C (p.Arg336=)
c.1863T>C (p.Arg621=)
c.1677T>C (p.Arg559=)
c.1596T>C (p.Arg532=)
c.1302T>C (p.Arg434=)
c.1683T>C (p.Arg561=)
 dbSNP gnomAD v2 gnomAD v4
2g.48687859A>TCA426125195GTF2A1L,LHCGR,STON1-GTF2A1Lc.1938T>A (p.Arg646=)
c.*250T>A (n.*250T>A)
c.3441+16179A>T (n.3441+16179A>T)
c.*682T>A (n.*682T>A)
c.1857T>A (p.Arg619=)
c.276+16179A>T (n.276+16179A>T)
c.*220+6365T>A (n.*220+6365T>A)
c.981T>A (p.Arg327=)
c.1008T>A (p.Arg336=)
c.1863T>A (p.Arg621=)
c.1677T>A (p.Arg559=)
c.1596T>A (p.Arg532=)
c.1302T>A (p.Arg434=)
c.1683T>A (p.Arg561=)
2g.48687860C>ACA46752545GTF2A1L,LHCGR,STON1-GTF2A1Lc.1937G>T (p.Arg646Leu)
c.*249G>T (n.*249G>T)
c.3441+16180C>A (n.3441+16180C>A)
c.*681G>T (n.*681G>T)
c.1856G>T (p.Arg619Leu)
c.276+16180C>A (n.276+16180C>A)
c.*220+6364G>T (n.*220+6364G>T)
c.980G>T (p.Arg327Leu)
c.1007G>T (p.Arg336Leu)
c.1862G>T (p.Arg621Leu)
c.1676G>T (p.Arg559Leu)
c.1595G>T (p.Arg532Leu)
c.1301G>T (p.Arg434Leu)
c.1682G>T (p.Arg561Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48687860C=CA1248600878GTF2A1L,LHCGR,STON1-GTF2A1Lc.1937G= (p.Arg646=)
c.*249G= (n.*249G=)
c.3441+16180C= (n.3441+16180C=)
c.*681G= (n.*681G=)
c.1856G= (p.Arg619=)
c.276+16180C= (n.276+16180C=)
c.*220+6364G= (n.*220+6364G=)
c.980G= (p.Arg327=)
c.1007G= (p.Arg336=)
c.1862G= (p.Arg621=)
c.1676G= (p.Arg559=)
c.1595G= (p.Arg532=)
c.1301G= (p.Arg434=)
c.1682G= (p.Arg561=)
2g.48687860C>GCA346743660GTF2A1L,LHCGR,STON1-GTF2A1Lc.1937G>C (p.Arg646Pro)
c.*249G>C (n.*249G>C)
c.3441+16180C>G (n.3441+16180C>G)
c.*681G>C (n.*681G>C)
c.1856G>C (p.Arg619Pro)
c.276+16180C>G (n.276+16180C>G)
c.*220+6364G>C (n.*220+6364G>C)
c.980G>C (p.Arg327Pro)
c.1007G>C (p.Arg336Pro)
c.1862G>C (p.Arg621Pro)
c.1676G>C (p.Arg559Pro)
c.1595G>C (p.Arg532Pro)
c.1301G>C (p.Arg434Pro)
c.1682G>C (p.Arg561Pro)
2g.48687860C>TCA1652965GTF2A1L,LHCGR,STON1-GTF2A1Lc.1937G>A (p.Arg646His)
c.*249G>A (n.*249G>A)
c.3441+16180C>T (n.3441+16180C>T)
c.*681G>A (n.*681G>A)
c.1856G>A (p.Arg619His)
c.276+16180C>T (n.276+16180C>T)
c.*220+6364G>A (n.*220+6364G>A)
c.980G>A (p.Arg327His)
c.1007G>A (p.Arg336His)
c.1862G>A (p.Arg621His)
c.1676G>A (p.Arg559His)
c.1595G>A (p.Arg532His)
c.1301G>A (p.Arg434His)
c.1682G>A (p.Arg561His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
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

Number of alleles fetched