Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.48687959G>ACA346744267GTF2A1L,LHCGR,STON1-GTF2A1Lc.1838C>T (p.Pro613Leu)
c.*150C>T (n.*150C>T)
c.3441+16279G>A (n.3441+16279G>A)
c.*582C>T (n.*582C>T)
c.1757C>T (p.Pro586Leu)
c.276+16279G>A (n.276+16279G>A)
c.*220+6265C>T (n.*220+6265C>T)
c.881C>T (p.Pro294Leu)
c.908C>T (p.Pro303Leu)
c.1763C>T (p.Pro588Leu)
c.1577C>T (p.Pro526Leu)
c.1496C>T (p.Pro499Leu)
c.1202C>T (p.Pro401Leu)
c.1583C>T (p.Pro528Leu)
2g.48687959G>CCA1652980GTF2A1L,LHCGR,STON1-GTF2A1Lc.1838C>G (p.Pro613Arg)
c.*150C>G (n.*150C>G)
c.3441+16279G>C (n.3441+16279G>C)
c.*582C>G (n.*582C>G)
c.1757C>G (p.Pro586Arg)
c.276+16279G>C (n.276+16279G>C)
c.*220+6265C>G (n.*220+6265C>G)
c.881C>G (p.Pro294Arg)
c.908C>G (p.Pro303Arg)
c.1763C>G (p.Pro588Arg)
c.1577C>G (p.Pro526Arg)
c.1496C>G (p.Pro499Arg)
c.1202C>G (p.Pro401Arg)
c.1583C>G (p.Pro528Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48687959G=CA1248600920GTF2A1L,LHCGR,STON1-GTF2A1Lc.1838C= (p.Pro613=)
c.*150C= (n.*150C=)
c.3441+16279G= (n.3441+16279G=)
c.*582C= (n.*582C=)
c.1757C= (p.Pro586=)
c.276+16279G= (n.276+16279G=)
c.*220+6265C= (n.*220+6265C=)
c.881C= (p.Pro294=)
c.908C= (p.Pro303=)
c.1763C= (p.Pro588=)
c.1577C= (p.Pro526=)
c.1496C= (p.Pro499=)
c.1202C= (p.Pro401=)
c.1583C= (p.Pro528=)
2g.48687959G>TCA346744271GTF2A1L,LHCGR,STON1-GTF2A1Lc.1838C>A (p.Pro613His)
c.*150C>A (n.*150C>A)
c.3441+16279G>T (n.3441+16279G>T)
c.*582C>A (n.*582C>A)
c.1757C>A (p.Pro586His)
c.276+16279G>T (n.276+16279G>T)
c.*220+6265C>A (n.*220+6265C>A)
c.881C>A (p.Pro294His)
c.908C>A (p.Pro303His)
c.1763C>A (p.Pro588His)
c.1577C>A (p.Pro526His)
c.1496C>A (p.Pro499His)
c.1202C>A (p.Pro401His)
c.1583C>A (p.Pro528His)
2g.48687960G>ACA346744274GTF2A1L,LHCGR,STON1-GTF2A1Lc.1837C>T (p.Pro613Ser)
c.*149C>T (n.*149C>T)
c.3441+16280G>A (n.3441+16280G>A)
c.*581C>T (n.*581C>T)
c.1756C>T (p.Pro586Ser)
c.276+16280G>A (n.276+16280G>A)
c.*220+6264C>T (n.*220+6264C>T)
c.880C>T (p.Pro294Ser)
c.907C>T (p.Pro303Ser)
c.1762C>T (p.Pro588Ser)
c.1576C>T (p.Pro526Ser)
c.1495C>T (p.Pro499Ser)
c.1201C>T (p.Pro401Ser)
c.1582C>T (p.Pro528Ser)
 COSMIC
2g.48687960G>CCA346744276GTF2A1L,LHCGR,STON1-GTF2A1Lc.1837C>G (p.Pro613Ala)
c.*149C>G (n.*149C>G)
c.3441+16280G>C (n.3441+16280G>C)
c.*581C>G (n.*581C>G)
c.1756C>G (p.Pro586Ala)
c.276+16280G>C (n.276+16280G>C)
c.*220+6264C>G (n.*220+6264C>G)
c.880C>G (p.Pro294Ala)
c.907C>G (p.Pro303Ala)
c.1762C>G (p.Pro588Ala)
c.1576C>G (p.Pro526Ala)
c.1495C>G (p.Pro499Ala)
c.1201C>G (p.Pro401Ala)
c.1582C>G (p.Pro528Ala)
2g.48687960G>TCA346744279GTF2A1L,LHCGR,STON1-GTF2A1Lc.1837C>A (p.Pro613Thr)
c.*149C>A (n.*149C>A)
c.3441+16280G>T (n.3441+16280G>T)
c.*581C>A (n.*581C>A)
c.1756C>A (p.Pro586Thr)
c.276+16280G>T (n.276+16280G>T)
c.*220+6264C>A (n.*220+6264C>A)
c.880C>A (p.Pro294Thr)
c.907C>A (p.Pro303Thr)
c.1762C>A (p.Pro588Thr)
c.1576C>A (p.Pro526Thr)
c.1495C>A (p.Pro499Thr)
c.1201C>A (p.Pro401Thr)
c.1582C>A (p.Pro528Thr)
2g.48687961A>CCA346744284GTF2A1L,LHCGR,STON1-GTF2A1Lc.1836T>G (p.Tyr612Ter)
c.*148T>G (n.*148T>G)
c.3441+16281A>C (n.3441+16281A>C)
c.*580T>G (n.*580T>G)
c.1755T>G (p.Tyr585Ter)
c.276+16281A>C (n.276+16281A>C)
c.*220+6263T>G (n.*220+6263T>G)
c.879T>G (p.Tyr293Ter)
c.906T>G (p.Tyr302Ter)
c.1761T>G (p.Tyr587Ter)
c.1575T>G (p.Tyr525Ter)
c.1494T>G (p.Tyr498Ter)
c.1200T>G (p.Tyr400Ter)
c.1581T>G (p.Tyr527Ter)
2g.48687961A>GCA426125577GTF2A1L,LHCGR,STON1-GTF2A1Lc.1836T>C (p.Tyr612=)
c.*148T>C (n.*148T>C)
c.3441+16281A>G (n.3441+16281A>G)
c.*580T>C (n.*580T>C)
c.1755T>C (p.Tyr585=)
c.276+16281A>G (n.276+16281A>G)
c.*220+6263T>C (n.*220+6263T>C)
c.879T>C (p.Tyr293=)
c.906T>C (p.Tyr302=)
c.1761T>C (p.Tyr587=)
c.1575T>C (p.Tyr525=)
c.1494T>C (p.Tyr498=)
c.1200T>C (p.Tyr400=)
c.1581T>C (p.Tyr527=)
2g.48687961A>TCA346744287GTF2A1L,LHCGR,STON1-GTF2A1Lc.1836T>A (p.Tyr612Ter)
c.*148T>A (n.*148T>A)
c.3441+16281A>T (n.3441+16281A>T)
c.*580T>A (n.*580T>A)
c.1755T>A (p.Tyr585Ter)
c.276+16281A>T (n.276+16281A>T)
c.*220+6263T>A (n.*220+6263T>A)
c.879T>A (p.Tyr293Ter)
c.906T>A (p.Tyr302Ter)
c.1761T>A (p.Tyr587Ter)
c.1575T>A (p.Tyr525Ter)
c.1494T>A (p.Tyr498Ter)
c.1200T>A (p.Tyr400Ter)
c.1581T>A (p.Tyr527Ter)
2g.48687962T>ACA346744290GTF2A1L,LHCGR,STON1-GTF2A1Lc.1835A>T (p.Tyr612Phe)
c.*147A>T (n.*147A>T)
c.3441+16282T>A (n.3441+16282T>A)
c.*579A>T (n.*579A>T)
c.1754A>T (p.Tyr585Phe)
c.276+16282T>A (n.276+16282T>A)
c.*220+6262A>T (n.*220+6262A>T)
c.878A>T (p.Tyr293Phe)
c.905A>T (p.Tyr302Phe)
c.1760A>T (p.Tyr587Phe)
c.1574A>T (p.Tyr525Phe)
c.1493A>T (p.Tyr498Phe)
c.1199A>T (p.Tyr400Phe)
c.1580A>T (p.Tyr527Phe)
2g.48687962T>CCA346744288GTF2A1L,LHCGR,STON1-GTF2A1Lc.1835A>G (p.Tyr612Cys)
c.*147A>G (n.*147A>G)
c.3441+16282T>C (n.3441+16282T>C)
c.*579A>G (n.*579A>G)
c.1754A>G (p.Tyr585Cys)
c.276+16282T>C (n.276+16282T>C)
c.*220+6262A>G (n.*220+6262A>G)
c.878A>G (p.Tyr293Cys)
c.905A>G (p.Tyr302Cys)
c.1760A>G (p.Tyr587Cys)
c.1574A>G (p.Tyr525Cys)
c.1493A>G (p.Tyr498Cys)
c.1199A>G (p.Tyr400Cys)
c.1580A>G (p.Tyr527Cys)
 dbSNP
2g.48687962T>GCA346744289GTF2A1L,LHCGR,STON1-GTF2A1Lc.1835A>C (p.Tyr612Ser)
c.*147A>C (n.*147A>C)
c.3441+16282T>G (n.3441+16282T>G)
c.*579A>C (n.*579A>C)
c.1754A>C (p.Tyr585Ser)
c.276+16282T>G (n.276+16282T>G)
c.*220+6262A>C (n.*220+6262A>C)
c.878A>C (p.Tyr293Ser)
c.905A>C (p.Tyr302Ser)
c.1760A>C (p.Tyr587Ser)
c.1574A>C (p.Tyr525Ser)
c.1493A>C (p.Tyr498Ser)
c.1199A>C (p.Tyr400Ser)
c.1580A>C (p.Tyr527Ser)
2g.48687962T=CA1248600921GTF2A1L,LHCGR,STON1-GTF2A1Lc.1835A= (p.Tyr612=)
c.*147A= (n.*147A=)
c.3441+16282T= (n.3441+16282T=)
c.*579A= (n.*579A=)
c.1754A= (p.Tyr585=)
c.276+16282T= (n.276+16282T=)
c.*220+6262A= (n.*220+6262A=)
c.878A= (p.Tyr293=)
c.905A= (p.Tyr302=)
c.1760A= (p.Tyr587=)
c.1574A= (p.Tyr525=)
c.1493A= (p.Tyr498=)
c.1199A= (p.Tyr400=)
c.1580A= (p.Tyr527=)
2g.48687963A=CA1248600922GTF2A1L,LHCGR,STON1-GTF2A1Lc.1834T= (p.Tyr612=)
c.*146T= (n.*146T=)
c.3441+16283A= (n.3441+16283A=)
c.*578T= (n.*578T=)
c.1753T= (p.Tyr585=)
c.276+16283A= (n.276+16283A=)
c.*220+6261T= (n.*220+6261T=)
c.877T= (p.Tyr293=)
c.904T= (p.Tyr302=)
c.1759T= (p.Tyr587=)
c.1573T= (p.Tyr525=)
c.1492T= (p.Tyr498=)
c.1198T= (p.Tyr400=)
c.1579T= (p.Tyr527=)
2g.48687963A>CCA346744291GTF2A1L,LHCGR,STON1-GTF2A1Lc.1834T>G (p.Tyr612Asp)
c.*146T>G (n.*146T>G)
c.3441+16283A>C (n.3441+16283A>C)
c.*578T>G (n.*578T>G)
c.1753T>G (p.Tyr585Asp)
c.276+16283A>C (n.276+16283A>C)
c.*220+6261T>G (n.*220+6261T>G)
c.877T>G (p.Tyr293Asp)
c.904T>G (p.Tyr302Asp)
c.1759T>G (p.Tyr587Asp)
c.1573T>G (p.Tyr525Asp)
c.1492T>G (p.Tyr498Asp)
c.1198T>G (p.Tyr400Asp)
c.1579T>G (p.Tyr527Asp)
2g.48687963A>GCA346744294GTF2A1L,LHCGR,STON1-GTF2A1Lc.1834T>C (p.Tyr612His)
c.*146T>C (n.*146T>C)
c.3441+16283A>G (n.3441+16283A>G)
c.*578T>C (n.*578T>C)
c.1753T>C (p.Tyr585His)
c.276+16283A>G (n.276+16283A>G)
c.*220+6261T>C (n.*220+6261T>C)
c.877T>C (p.Tyr293His)
c.904T>C (p.Tyr302His)
c.1759T>C (p.Tyr587His)
c.1573T>C (p.Tyr525His)
c.1492T>C (p.Tyr498His)
c.1198T>C (p.Tyr400His)
c.1579T>C (p.Tyr527His)
 dbSNP gnomAD v3 gnomAD v4
2g.48687963A>TCA346744295GTF2A1L,LHCGR,STON1-GTF2A1Lc.1834T>A (p.Tyr612Asn)
c.*146T>A (n.*146T>A)
c.3441+16283A>T (n.3441+16283A>T)
c.*578T>A (n.*578T>A)
c.1753T>A (p.Tyr585Asn)
c.276+16283A>T (n.276+16283A>T)
c.*220+6261T>A (n.*220+6261T>A)
c.877T>A (p.Tyr293Asn)
c.904T>A (p.Tyr302Asn)
c.1759T>A (p.Tyr587Asn)
c.1573T>A (p.Tyr525Asn)
c.1492T>A (p.Tyr498Asn)
c.1198T>A (p.Tyr400Asn)
c.1579T>A (p.Tyr527Asn)
2g.48687968dupCA2658992079GTF2A1L,LHCGR,STON1-GTF2A1Lc.1834dup (p.Tyr612LeufsTer17)
c.*146dup (n.*146dup)
c.3441+16288dup (n.3441+16288dup)
c.*578dup (n.*578dup)
c.1753dup (p.Tyr585LeufsTer17)
c.276+16288dup (n.276+16288dup)
c.*220+6261dup (n.*220+6261dup)
c.877dup (p.Tyr293LeufsTer17)
c.904dup (p.Tyr302LeufsTer17)
c.1759dup (p.Tyr587LeufsTer17)
c.1573dup (p.Tyr525LeufsTer17)
c.1492dup (p.Tyr498LeufsTer17)
c.1198dup (p.Tyr400LeufsTer17)
c.1579dup (p.Tyr527LeufsTer17)
 gnomAD v4
2g.48687964A>CCA346744296GTF2A1L,LHCGR,STON1-GTF2A1Lc.1833T>G (p.Phe611Leu)
c.*145T>G (n.*145T>G)
c.3441+16284A>C (n.3441+16284A>C)
c.*577T>G (n.*577T>G)
c.1752T>G (p.Phe584Leu)
c.276+16284A>C (n.276+16284A>C)
c.*220+6260T>G (n.*220+6260T>G)
c.876T>G (p.Phe292Leu)
c.903T>G (p.Phe301Leu)
c.1758T>G (p.Phe586Leu)
c.1572T>G (p.Phe524Leu)
c.1491T>G (p.Phe497Leu)
c.1197T>G (p.Phe399Leu)
c.1578T>G (p.Phe526Leu)
2g.48687964A>GCA426125593GTF2A1L,LHCGR,STON1-GTF2A1Lc.1833T>C (p.Phe611=)
c.*145T>C (n.*145T>C)
c.3441+16284A>G (n.3441+16284A>G)
c.*577T>C (n.*577T>C)
c.1752T>C (p.Phe584=)
c.276+16284A>G (n.276+16284A>G)
c.*220+6260T>C (n.*220+6260T>C)
c.876T>C (p.Phe292=)
c.903T>C (p.Phe301=)
c.1758T>C (p.Phe586=)
c.1572T>C (p.Phe524=)
c.1491T>C (p.Phe497=)
c.1197T>C (p.Phe399=)
c.1578T>C (p.Phe526=)
2g.48687964A>TCA346744297GTF2A1L,LHCGR,STON1-GTF2A1Lc.1833T>A (p.Phe611Leu)
c.*145T>A (n.*145T>A)
c.3441+16284A>T (n.3441+16284A>T)
c.*577T>A (n.*577T>A)
c.1752T>A (p.Phe584Leu)
c.276+16284A>T (n.276+16284A>T)
c.*220+6260T>A (n.*220+6260T>A)
c.876T>A (p.Phe292Leu)
c.903T>A (p.Phe301Leu)
c.1758T>A (p.Phe586Leu)
c.1572T>A (p.Phe524Leu)
c.1491T>A (p.Phe497Leu)
c.1197T>A (p.Phe399Leu)
c.1578T>A (p.Phe526Leu)
2g.48687965A>CCA346744298GTF2A1L,LHCGR,STON1-GTF2A1Lc.1832T>G (p.Phe611Cys)
c.*144T>G (n.*144T>G)
c.3441+16285A>C (n.3441+16285A>C)
c.*576T>G (n.*576T>G)
c.1751T>G (p.Phe584Cys)
c.276+16285A>C (n.276+16285A>C)
c.*220+6259T>G (n.*220+6259T>G)
c.875T>G (p.Phe292Cys)
c.902T>G (p.Phe301Cys)
c.1757T>G (p.Phe586Cys)
c.1571T>G (p.Phe524Cys)
c.1490T>G (p.Phe497Cys)
c.1196T>G (p.Phe399Cys)
c.1577T>G (p.Phe526Cys)
2g.48687965A>GCA346744299GTF2A1L,LHCGR,STON1-GTF2A1Lc.1832T>C (p.Phe611Ser)
c.*144T>C (n.*144T>C)
c.3441+16285A>G (n.3441+16285A>G)
c.*576T>C (n.*576T>C)
c.1751T>C (p.Phe584Ser)
c.276+16285A>G (n.276+16285A>G)
c.*220+6259T>C (n.*220+6259T>C)
c.875T>C (p.Phe292Ser)
c.902T>C (p.Phe301Ser)
c.1757T>C (p.Phe586Ser)
c.1571T>C (p.Phe524Ser)
c.1490T>C (p.Phe497Ser)
c.1196T>C (p.Phe399Ser)
c.1577T>C (p.Phe526Ser)
2g.48687965A>TCA346744300GTF2A1L,LHCGR,STON1-GTF2A1Lc.1832T>A (p.Phe611Tyr)
c.*144T>A (n.*144T>A)
c.3441+16285A>T (n.3441+16285A>T)
c.*576T>A (n.*576T>A)
c.1751T>A (p.Phe584Tyr)
c.276+16285A>T (n.276+16285A>T)
c.*220+6259T>A (n.*220+6259T>A)
c.875T>A (p.Phe292Tyr)
c.902T>A (p.Phe301Tyr)
c.1757T>A (p.Phe586Tyr)
c.1571T>A (p.Phe524Tyr)
c.1490T>A (p.Phe497Tyr)
c.1196T>A (p.Phe399Tyr)
c.1577T>A (p.Phe526Tyr)
2g.48687966A=CA1248600923GTF2A1L,LHCGR,STON1-GTF2A1Lc.1831T= (p.Phe611=)
c.*143T= (n.*143T=)
c.3441+16286A= (n.3441+16286A=)
c.*575T= (n.*575T=)
c.1750T= (p.Phe584=)
c.276+16286A= (n.276+16286A=)
c.*220+6258T= (n.*220+6258T=)
c.874T= (p.Phe292=)
c.901T= (p.Phe301=)
c.1756T= (p.Phe586=)
c.1570T= (p.Phe524=)
c.1489T= (p.Phe497=)
c.1195T= (p.Phe399=)
c.1576T= (p.Phe526=)
2g.48687966A>CCA1652981GTF2A1L,LHCGR,STON1-GTF2A1Lc.1831T>G (p.Phe611Val)
c.*143T>G (n.*143T>G)
c.3441+16286A>C (n.3441+16286A>C)
c.*575T>G (n.*575T>G)
c.1750T>G (p.Phe584Val)
c.276+16286A>C (n.276+16286A>C)
c.*220+6258T>G (n.*220+6258T>G)
c.874T>G (p.Phe292Val)
c.901T>G (p.Phe301Val)
c.1756T>G (p.Phe586Val)
c.1570T>G (p.Phe524Val)
c.1489T>G (p.Phe497Val)
c.1195T>G (p.Phe399Val)
c.1576T>G (p.Phe526Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48687966A>GCA346744301GTF2A1L,LHCGR,STON1-GTF2A1Lc.1831T>C (p.Phe611Leu)
c.*143T>C (n.*143T>C)
c.3441+16286A>G (n.3441+16286A>G)
c.*575T>C (n.*575T>C)
c.1750T>C (p.Phe584Leu)
c.276+16286A>G (n.276+16286A>G)
c.*220+6258T>C (n.*220+6258T>C)
c.874T>C (p.Phe292Leu)
c.901T>C (p.Phe301Leu)
c.1756T>C (p.Phe586Leu)
c.1570T>C (p.Phe524Leu)
c.1489T>C (p.Phe497Leu)
c.1195T>C (p.Phe399Leu)
c.1576T>C (p.Phe526Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.48687966A>TCA346744303GTF2A1L,LHCGR,STON1-GTF2A1Lc.1831T>A (p.Phe611Ile)
c.*143T>A (n.*143T>A)
c.3441+16286A>T (n.3441+16286A>T)
c.*575T>A (n.*575T>A)
c.1750T>A (p.Phe584Ile)
c.276+16286A>T (n.276+16286A>T)
c.*220+6258T>A (n.*220+6258T>A)
c.874T>A (p.Phe292Ile)
c.901T>A (p.Phe301Ile)
c.1756T>A (p.Phe586Ile)
c.1570T>A (p.Phe524Ile)
c.1489T>A (p.Phe497Ile)
c.1195T>A (p.Phe399Ile)
c.1576T>A (p.Phe526Ile)
2g.48687967A>CCA426125611GTF2A1L,LHCGR,STON1-GTF2A1Lc.1830T>G (p.Leu610=)
c.*142T>G (n.*142T>G)
c.3441+16287A>C (n.3441+16287A>C)
c.*574T>G (n.*574T>G)
c.1749T>G (p.Leu583=)
c.276+16287A>C (n.276+16287A>C)
c.*220+6257T>G (n.*220+6257T>G)
c.873T>G (p.Leu291=)
c.900T>G (p.Leu300=)
c.1755T>G (p.Leu585=)
c.1569T>G (p.Leu523=)
c.1488T>G (p.Leu496=)
c.1194T>G (p.Leu398=)
c.1575T>G (p.Leu525=)
2g.48687967A>GCA426125610GTF2A1L,LHCGR,STON1-GTF2A1Lc.1830T>C (p.Leu610=)
c.*142T>C (n.*142T>C)
c.3441+16287A>G (n.3441+16287A>G)
c.*574T>C (n.*574T>C)
c.1749T>C (p.Leu583=)
c.276+16287A>G (n.276+16287A>G)
c.*220+6257T>C (n.*220+6257T>C)
c.873T>C (p.Leu291=)
c.900T>C (p.Leu300=)
c.1755T>C (p.Leu585=)
c.1569T>C (p.Leu523=)
c.1488T>C (p.Leu496=)
c.1194T>C (p.Leu398=)
c.1575T>C (p.Leu525=)
2g.48687967A>TCA426125604GTF2A1L,LHCGR,STON1-GTF2A1Lc.1830T>A (p.Leu610=)
c.*142T>A (n.*142T>A)
c.3441+16287A>T (n.3441+16287A>T)
c.*574T>A (n.*574T>A)
c.1749T>A (p.Leu583=)
c.276+16287A>T (n.276+16287A>T)
c.*220+6257T>A (n.*220+6257T>A)
c.873T>A (p.Leu291=)
c.900T>A (p.Leu300=)
c.1755T>A (p.Leu585=)
c.1569T>A (p.Leu523=)
c.1488T>A (p.Leu496=)
c.1194T>A (p.Leu398=)
c.1575T>A (p.Leu525=)
2g.48687968A>CCA346744311GTF2A1L,LHCGR,STON1-GTF2A1Lc.1829T>G (p.Leu610Arg)
c.*141T>G (n.*141T>G)
c.3441+16288A>C (n.3441+16288A>C)
c.*573T>G (n.*573T>G)
c.1748T>G (p.Leu583Arg)
c.276+16288A>C (n.276+16288A>C)
c.*220+6256T>G (n.*220+6256T>G)
c.872T>G (p.Leu291Arg)
c.899T>G (p.Leu300Arg)
c.1754T>G (p.Leu585Arg)
c.1568T>G (p.Leu523Arg)
c.1487T>G (p.Leu496Arg)
c.1193T>G (p.Leu398Arg)
c.1574T>G (p.Leu525Arg)
2g.48687968A>GCA346744307GTF2A1L,LHCGR,STON1-GTF2A1Lc.1829T>C (p.Leu610Pro)
c.*141T>C (n.*141T>C)
c.3441+16288A>G (n.3441+16288A>G)
c.*573T>C (n.*573T>C)
c.1748T>C (p.Leu583Pro)
c.276+16288A>G (n.276+16288A>G)
c.*220+6256T>C (n.*220+6256T>C)
c.872T>C (p.Leu291Pro)
c.899T>C (p.Leu300Pro)
c.1754T>C (p.Leu585Pro)
c.1568T>C (p.Leu523Pro)
c.1487T>C (p.Leu496Pro)
c.1193T>C (p.Leu398Pro)
c.1574T>C (p.Leu525Pro)
2g.48687968A>TCA346744306GTF2A1L,LHCGR,STON1-GTF2A1Lc.1829T>A (p.Leu610His)
c.*141T>A (n.*141T>A)
c.3441+16288A>T (n.3441+16288A>T)
c.*573T>A (n.*573T>A)
c.1748T>A (p.Leu583His)
c.276+16288A>T (n.276+16288A>T)
c.*220+6256T>A (n.*220+6256T>A)
c.872T>A (p.Leu291His)
c.899T>A (p.Leu300His)
c.1754T>A (p.Leu585His)
c.1568T>A (p.Leu523His)
c.1487T>A (p.Leu496His)
c.1193T>A (p.Leu398His)
c.1574T>A (p.Leu525His)
2g.48687970_48687975delCA2580067106GTF2A1L,LHCGR,STON1-GTF2A1Lc.1824_1829del (p.Val609_Leu610del)
c.*136_*141del (n.*136_*141del)
c.3441+16290_3441+16295del (n.3441+16290_3441+16295del)
c.*568_*573del (n.*568_*573del)
c.1743_1748del (p.Val582_Leu583del)
c.276+16290_276+16295del (n.276+16290_276+16295del)
c.*220+6251_*220+6256del (n.*220+6251_*220+6256del)
c.867_872del (p.Val290_Leu291del)
c.894_899del (p.Val299_Leu300del)
c.1749_1754del (p.Val584_Leu585del)
c.1563_1568del (p.Val522_Leu523del)
c.1482_1487del (p.Val495_Leu496del)
c.1188_1193del (p.Val397_Leu398del)
c.1569_1574del (p.Val524_Leu525del)
 ClinVar dbSNP gnomAD v4
2g.48687969G>ACA346744312GTF2A1L,LHCGR,STON1-GTF2A1Lc.1828C>T (p.Leu610Phe)
c.*140C>T (n.*140C>T)
c.3441+16289G>A (n.3441+16289G>A)
c.*572C>T (n.*572C>T)
c.1747C>T (p.Leu583Phe)
c.276+16289G>A (n.276+16289G>A)
c.*220+6255C>T (n.*220+6255C>T)
c.871C>T (p.Leu291Phe)
c.898C>T (p.Leu300Phe)
c.1753C>T (p.Leu585Phe)
c.1567C>T (p.Leu523Phe)
c.1486C>T (p.Leu496Phe)
c.1192C>T (p.Leu398Phe)
c.1573C>T (p.Leu525Phe)
2g.48687969G>CCA46752703GTF2A1L,LHCGR,STON1-GTF2A1Lc.1828C>G (p.Leu610Val)
c.*140C>G (n.*140C>G)
c.3441+16289G>C (n.3441+16289G>C)
c.*572C>G (n.*572C>G)
c.1747C>G (p.Leu583Val)
c.276+16289G>C (n.276+16289G>C)
c.*220+6255C>G (n.*220+6255C>G)
c.871C>G (p.Leu291Val)
c.898C>G (p.Leu300Val)
c.1753C>G (p.Leu585Val)
c.1567C>G (p.Leu523Val)
c.1486C>G (p.Leu496Val)
c.1192C>G (p.Leu398Val)
c.1573C>G (p.Leu525Val)
 dbSNP gnomAD v3 gnomAD v4
2g.48687969G=CA1248600924GTF2A1L,LHCGR,STON1-GTF2A1Lc.1828C= (p.Leu610=)
c.*140C= (n.*140C=)
c.3441+16289G= (n.3441+16289G=)
c.*572C= (n.*572C=)
c.1747C= (p.Leu583=)
c.276+16289G= (n.276+16289G=)
c.*220+6255C= (n.*220+6255C=)
c.871C= (p.Leu291=)
c.898C= (p.Leu300=)
c.1753C= (p.Leu585=)
c.1567C= (p.Leu523=)
c.1486C= (p.Leu496=)
c.1192C= (p.Leu398=)
c.1573C= (p.Leu525=)
2g.48687969G>TCA346744313GTF2A1L,LHCGR,STON1-GTF2A1Lc.1828C>A (p.Leu610Ile)
c.*140C>A (n.*140C>A)
c.3441+16289G>T (n.3441+16289G>T)
c.*572C>A (n.*572C>A)
c.1747C>A (p.Leu583Ile)
c.276+16289G>T (n.276+16289G>T)
c.*220+6255C>A (n.*220+6255C>A)
c.871C>A (p.Leu291Ile)
c.898C>A (p.Leu300Ile)
c.1753C>A (p.Leu585Ile)
c.1567C>A (p.Leu523Ile)
c.1486C>A (p.Leu496Ile)
c.1192C>A (p.Leu398Ile)
c.1573C>A (p.Leu525Ile)
2g.48687970A=CA1248600925GTF2A1L,LHCGR,STON1-GTF2A1Lc.1827T= (p.Val609=)
c.*139T= (n.*139T=)
c.3441+16290A= (n.3441+16290A=)
c.*571T= (n.*571T=)
c.1746T= (p.Val582=)
c.276+16290A= (n.276+16290A=)
c.*220+6254T= (n.*220+6254T=)
c.870T= (p.Val290=)
c.897T= (p.Val299=)
c.1752T= (p.Val584=)
c.1566T= (p.Val522=)
c.1485T= (p.Val495=)
c.1191T= (p.Val397=)
c.1572T= (p.Val524=)
2g.48687970A>CCA426125613GTF2A1L,LHCGR,STON1-GTF2A1Lc.1827T>G (p.Val609=)
c.*139T>G (n.*139T>G)
c.3441+16290A>C (n.3441+16290A>C)
c.*571T>G (n.*571T>G)
c.1746T>G (p.Val582=)
c.276+16290A>C (n.276+16290A>C)
c.*220+6254T>G (n.*220+6254T>G)
c.870T>G (p.Val290=)
c.897T>G (p.Val299=)
c.1752T>G (p.Val584=)
c.1566T>G (p.Val522=)
c.1485T>G (p.Val495=)
c.1191T>G (p.Val397=)
c.1572T>G (p.Val524=)
2g.48687970A>GCA426125616GTF2A1L,LHCGR,STON1-GTF2A1Lc.1827T>C (p.Val609=)
c.*139T>C (n.*139T>C)
c.3441+16290A>G (n.3441+16290A>G)
c.*571T>C (n.*571T>C)
c.1746T>C (p.Val582=)
c.276+16290A>G (n.276+16290A>G)
c.*220+6254T>C (n.*220+6254T>C)
c.870T>C (p.Val290=)
c.897T>C (p.Val299=)
c.1752T>C (p.Val584=)
c.1566T>C (p.Val522=)
c.1485T>C (p.Val495=)
c.1191T>C (p.Val397=)
c.1572T>C (p.Val524=)
 dbSNP
2g.48687970A>TCA426125620GTF2A1L,LHCGR,STON1-GTF2A1Lc.1827T>A (p.Val609=)
c.*139T>A (n.*139T>A)
c.3441+16290A>T (n.3441+16290A>T)
c.*571T>A (n.*571T>A)
c.1746T>A (p.Val582=)
c.276+16290A>T (n.276+16290A>T)
c.*220+6254T>A (n.*220+6254T>A)
c.870T>A (p.Val290=)
c.897T>A (p.Val299=)
c.1752T>A (p.Val584=)
c.1566T>A (p.Val522=)
c.1485T>A (p.Val495=)
c.1191T>A (p.Val397=)
c.1572T>A (p.Val524=)
2g.48687971A>CCA346744317GTF2A1L,LHCGR,STON1-GTF2A1Lc.1826T>G (p.Val609Gly)
c.*138T>G (n.*138T>G)
c.3441+16291A>C (n.3441+16291A>C)
c.*570T>G (n.*570T>G)
c.1745T>G (p.Val582Gly)
c.276+16291A>C (n.276+16291A>C)
c.*220+6253T>G (n.*220+6253T>G)
c.869T>G (p.Val290Gly)
c.896T>G (p.Val299Gly)
c.1751T>G (p.Val584Gly)
c.1565T>G (p.Val522Gly)
c.1484T>G (p.Val495Gly)
c.1190T>G (p.Val397Gly)
c.1571T>G (p.Val524Gly)
2g.48687971A>GCA346744322GTF2A1L,LHCGR,STON1-GTF2A1Lc.1826T>C (p.Val609Ala)
c.*138T>C (n.*138T>C)
c.3441+16291A>G (n.3441+16291A>G)
c.*570T>C (n.*570T>C)
c.1745T>C (p.Val582Ala)
c.276+16291A>G (n.276+16291A>G)
c.*220+6253T>C (n.*220+6253T>C)
c.869T>C (p.Val290Ala)
c.896T>C (p.Val299Ala)
c.1751T>C (p.Val584Ala)
c.1565T>C (p.Val522Ala)
c.1484T>C (p.Val495Ala)
c.1190T>C (p.Val397Ala)
c.1571T>C (p.Val524Ala)
2g.48687971A>TCA346744319GTF2A1L,LHCGR,STON1-GTF2A1Lc.1826T>A (p.Val609Asp)
c.*138T>A (n.*138T>A)
c.3441+16291A>T (n.3441+16291A>T)
c.*570T>A (n.*570T>A)
c.1745T>A (p.Val582Asp)
c.276+16291A>T (n.276+16291A>T)
c.*220+6253T>A (n.*220+6253T>A)
c.869T>A (p.Val290Asp)
c.896T>A (p.Val299Asp)
c.1751T>A (p.Val584Asp)
c.1565T>A (p.Val522Asp)
c.1484T>A (p.Val495Asp)
c.1190T>A (p.Val397Asp)
c.1571T>A (p.Val524Asp)
2g.48687972C>ACA346744326GTF2A1L,LHCGR,STON1-GTF2A1Lc.1825G>T (p.Val609Phe)
c.*137G>T (n.*137G>T)
c.3441+16292C>A (n.3441+16292C>A)
c.*569G>T (n.*569G>T)
c.1744G>T (p.Val582Phe)
c.276+16292C>A (n.276+16292C>A)
c.*220+6252G>T (n.*220+6252G>T)
c.868G>T (p.Val290Phe)
c.895G>T (p.Val299Phe)
c.1750G>T (p.Val584Phe)
c.1564G>T (p.Val522Phe)
c.1483G>T (p.Val495Phe)
c.1189G>T (p.Val397Phe)
c.1570G>T (p.Val524Phe)
2g.48687972C=CA1248600926GTF2A1L,LHCGR,STON1-GTF2A1Lc.1825G= (p.Val609=)
c.*137G= (n.*137G=)
c.3441+16292C= (n.3441+16292C=)
c.*569G= (n.*569G=)
c.1744G= (p.Val582=)
c.276+16292C= (n.276+16292C=)
c.*220+6252G= (n.*220+6252G=)
c.868G= (p.Val290=)
c.895G= (p.Val299=)
c.1750G= (p.Val584=)
c.1564G= (p.Val522=)
c.1483G= (p.Val495=)
c.1189G= (p.Val397=)
c.1570G= (p.Val524=)
2g.48687972C>GCA346744331GTF2A1L,LHCGR,STON1-GTF2A1Lc.1825G>C (p.Val609Leu)
c.*137G>C (n.*137G>C)
c.3441+16292C>G (n.3441+16292C>G)
c.*569G>C (n.*569G>C)
c.1744G>C (p.Val582Leu)
c.276+16292C>G (n.276+16292C>G)
c.*220+6252G>C (n.*220+6252G>C)
c.868G>C (p.Val290Leu)
c.895G>C (p.Val299Leu)
c.1750G>C (p.Val584Leu)
c.1564G>C (p.Val522Leu)
c.1483G>C (p.Val495Leu)
c.1189G>C (p.Val397Leu)
c.1570G>C (p.Val524Leu)
 dbSNP

Number of alleles fetched