Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.48687954T>ACA346744237GTF2A1L,LHCGR,STON1-GTF2A1Lc.1843A>T (p.Asn615Tyr)
c.*155A>T (n.*155A>T)
c.3441+16274T>A (n.3441+16274T>A)
c.*587A>T (n.*587A>T)
c.1762A>T (p.Asn588Tyr)
c.276+16274T>A (n.276+16274T>A)
c.*220+6270A>T (n.*220+6270A>T)
c.886A>T (p.Asn296Tyr)
c.913A>T (p.Asn305Tyr)
c.1768A>T (p.Asn590Tyr)
c.1582A>T (p.Asn528Tyr)
c.1501A>T (p.Asn501Tyr)
c.1207A>T (p.Asn403Tyr)
c.1588A>T (p.Asn530Tyr)
2g.48687954T>CCA346744238GTF2A1L,LHCGR,STON1-GTF2A1Lc.1843A>G (p.Asn615Asp)
c.*155A>G (n.*155A>G)
c.3441+16274T>C (n.3441+16274T>C)
c.*587A>G (n.*587A>G)
c.1762A>G (p.Asn588Asp)
c.276+16274T>C (n.276+16274T>C)
c.*220+6270A>G (n.*220+6270A>G)
c.886A>G (p.Asn296Asp)
c.913A>G (p.Asn305Asp)
c.1768A>G (p.Asn590Asp)
c.1582A>G (p.Asn528Asp)
c.1501A>G (p.Asn501Asp)
c.1207A>G (p.Asn403Asp)
c.1588A>G (p.Asn530Asp)
2g.48687954T>GCA346744239GTF2A1L,LHCGR,STON1-GTF2A1Lc.1843A>C (p.Asn615His)
c.*155A>C (n.*155A>C)
c.3441+16274T>G (n.3441+16274T>G)
c.*587A>C (n.*587A>C)
c.1762A>C (p.Asn588His)
c.276+16274T>G (n.276+16274T>G)
c.*220+6270A>C (n.*220+6270A>C)
c.886A>C (p.Asn296His)
c.913A>C (p.Asn305His)
c.1768A>C (p.Asn590His)
c.1582A>C (p.Asn528His)
c.1501A>C (p.Asn501His)
c.1207A>C (p.Asn403His)
c.1588A>C (p.Asn530His)
2g.48687955G>ACA426125546GTF2A1L,LHCGR,STON1-GTF2A1Lc.1842C>T (p.Ile614=)
c.*154C>T (n.*154C>T)
c.3441+16275G>A (n.3441+16275G>A)
c.*586C>T (n.*586C>T)
c.1761C>T (p.Ile587=)
c.276+16275G>A (n.276+16275G>A)
c.*220+6269C>T (n.*220+6269C>T)
c.885C>T (p.Ile295=)
c.912C>T (p.Ile304=)
c.1767C>T (p.Ile589=)
c.1581C>T (p.Ile527=)
c.1500C>T (p.Ile500=)
c.1206C>T (p.Ile402=)
c.1587C>T (p.Ile529=)
2g.48687955G>CCA346744240GTF2A1L,LHCGR,STON1-GTF2A1Lc.1842C>G (p.Ile614Met)
c.*154C>G (n.*154C>G)
c.3441+16275G>C (n.3441+16275G>C)
c.*586C>G (n.*586C>G)
c.1761C>G (p.Ile587Met)
c.276+16275G>C (n.276+16275G>C)
c.*220+6269C>G (n.*220+6269C>G)
c.885C>G (p.Ile295Met)
c.912C>G (p.Ile304Met)
c.1767C>G (p.Ile589Met)
c.1581C>G (p.Ile527Met)
c.1500C>G (p.Ile500Met)
c.1206C>G (p.Ile402Met)
c.1587C>G (p.Ile529Met)
2g.48687955G>TCA426125549GTF2A1L,LHCGR,STON1-GTF2A1Lc.1842C>A (p.Ile614=)
c.*154C>A (n.*154C>A)
c.3441+16275G>T (n.3441+16275G>T)
c.*586C>A (n.*586C>A)
c.1761C>A (p.Ile587=)
c.276+16275G>T (n.276+16275G>T)
c.*220+6269C>A (n.*220+6269C>A)
c.885C>A (p.Ile295=)
c.912C>A (p.Ile304=)
c.1767C>A (p.Ile589=)
c.1581C>A (p.Ile527=)
c.1500C>A (p.Ile500=)
c.1206C>A (p.Ile402=)
c.1587C>A (p.Ile529=)
2g.48687956A=CA1248600918GTF2A1L,LHCGR,STON1-GTF2A1Lc.1841T= (p.Ile614=)
c.*153T= (n.*153T=)
c.3441+16276A= (n.3441+16276A=)
c.*585T= (n.*585T=)
c.1760T= (p.Ile587=)
c.276+16276A= (n.276+16276A=)
c.*220+6268T= (n.*220+6268T=)
c.884T= (p.Ile295=)
c.911T= (p.Ile304=)
c.1766T= (p.Ile589=)
c.1580T= (p.Ile527=)
c.1499T= (p.Ile500=)
c.1205T= (p.Ile402=)
c.1586T= (p.Ile529=)
2g.48687956A>CCA1652979GTF2A1L,LHCGR,STON1-GTF2A1Lc.1841T>G (p.Ile614Ser)
c.*153T>G (n.*153T>G)
c.3441+16276A>C (n.3441+16276A>C)
c.*585T>G (n.*585T>G)
c.1760T>G (p.Ile587Ser)
c.276+16276A>C (n.276+16276A>C)
c.*220+6268T>G (n.*220+6268T>G)
c.884T>G (p.Ile295Ser)
c.911T>G (p.Ile304Ser)
c.1766T>G (p.Ile589Ser)
c.1580T>G (p.Ile527Ser)
c.1499T>G (p.Ile500Ser)
c.1205T>G (p.Ile402Ser)
c.1586T>G (p.Ile529Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48687956A>GCA346744242GTF2A1L,LHCGR,STON1-GTF2A1Lc.1841T>C (p.Ile614Thr)
c.*153T>C (n.*153T>C)
c.3441+16276A>G (n.3441+16276A>G)
c.*585T>C (n.*585T>C)
c.1760T>C (p.Ile587Thr)
c.276+16276A>G (n.276+16276A>G)
c.*220+6268T>C (n.*220+6268T>C)
c.884T>C (p.Ile295Thr)
c.911T>C (p.Ile304Thr)
c.1766T>C (p.Ile589Thr)
c.1580T>C (p.Ile527Thr)
c.1499T>C (p.Ile500Thr)
c.1205T>C (p.Ile402Thr)
c.1586T>C (p.Ile529Thr)
2g.48687956A>TCA1652978GTF2A1L,LHCGR,STON1-GTF2A1Lc.1841T>A (p.Ile614Asn)
c.*153T>A (n.*153T>A)
c.3441+16276A>T (n.3441+16276A>T)
c.*585T>A (n.*585T>A)
c.1760T>A (p.Ile587Asn)
c.276+16276A>T (n.276+16276A>T)
c.*220+6268T>A (n.*220+6268T>A)
c.884T>A (p.Ile295Asn)
c.911T>A (p.Ile304Asn)
c.1766T>A (p.Ile589Asn)
c.1580T>A (p.Ile527Asn)
c.1499T>A (p.Ile500Asn)
c.1205T>A (p.Ile402Asn)
c.1586T>A (p.Ile529Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48687957T>ACA346744259GTF2A1L,LHCGR,STON1-GTF2A1Lc.1840A>T (p.Ile614Phe)
c.*152A>T (n.*152A>T)
c.3441+16277T>A (n.3441+16277T>A)
c.*584A>T (n.*584A>T)
c.1759A>T (p.Ile587Phe)
c.276+16277T>A (n.276+16277T>A)
c.*220+6267A>T (n.*220+6267A>T)
c.883A>T (p.Ile295Phe)
c.910A>T (p.Ile304Phe)
c.1765A>T (p.Ile589Phe)
c.1579A>T (p.Ile527Phe)
c.1498A>T (p.Ile500Phe)
c.1204A>T (p.Ile402Phe)
c.1585A>T (p.Ile529Phe)
2g.48687957T>CCA346744260GTF2A1L,LHCGR,STON1-GTF2A1Lc.1840A>G (p.Ile614Val)
c.*152A>G (n.*152A>G)
c.3441+16277T>C (n.3441+16277T>C)
c.*584A>G (n.*584A>G)
c.1759A>G (p.Ile587Val)
c.276+16277T>C (n.276+16277T>C)
c.*220+6267A>G (n.*220+6267A>G)
c.883A>G (p.Ile295Val)
c.910A>G (p.Ile304Val)
c.1765A>G (p.Ile589Val)
c.1579A>G (p.Ile527Val)
c.1498A>G (p.Ile500Val)
c.1204A>G (p.Ile402Val)
c.1585A>G (p.Ile529Val)
2g.48687957T>GCA346744264GTF2A1L,LHCGR,STON1-GTF2A1Lc.1840A>C (p.Ile614Leu)
c.*152A>C (n.*152A>C)
c.3441+16277T>G (n.3441+16277T>G)
c.*584A>C (n.*584A>C)
c.1759A>C (p.Ile587Leu)
c.276+16277T>G (n.276+16277T>G)
c.*220+6267A>C (n.*220+6267A>C)
c.883A>C (p.Ile295Leu)
c.910A>C (p.Ile304Leu)
c.1765A>C (p.Ile589Leu)
c.1579A>C (p.Ile527Leu)
c.1498A>C (p.Ile500Leu)
c.1204A>C (p.Ile402Leu)
c.1585A>C (p.Ile529Leu)
2g.48687958G>ACA426125559GTF2A1L,LHCGR,STON1-GTF2A1Lc.1839C>T (p.Pro613=)
c.*151C>T (n.*151C>T)
c.3441+16278G>A (n.3441+16278G>A)
c.*583C>T (n.*583C>T)
c.1758C>T (p.Pro586=)
c.276+16278G>A (n.276+16278G>A)
c.*220+6266C>T (n.*220+6266C>T)
c.882C>T (p.Pro294=)
c.909C>T (p.Pro303=)
c.1764C>T (p.Pro588=)
c.1578C>T (p.Pro526=)
c.1497C>T (p.Pro499=)
c.1203C>T (p.Pro401=)
c.1584C>T (p.Pro528=)
 dbSNP gnomAD v3 gnomAD v4
2g.48687958G>CCA426125560GTF2A1L,LHCGR,STON1-GTF2A1Lc.1839C>G (p.Pro613=)
c.*151C>G (n.*151C>G)
c.3441+16278G>C (n.3441+16278G>C)
c.*583C>G (n.*583C>G)
c.1758C>G (p.Pro586=)
c.276+16278G>C (n.276+16278G>C)
c.*220+6266C>G (n.*220+6266C>G)
c.882C>G (p.Pro294=)
c.909C>G (p.Pro303=)
c.1764C>G (p.Pro588=)
c.1578C>G (p.Pro526=)
c.1497C>G (p.Pro499=)
c.1203C>G (p.Pro401=)
c.1584C>G (p.Pro528=)
2g.48687958G=CA1248600919GTF2A1L,LHCGR,STON1-GTF2A1Lc.1839C= (p.Pro613=)
c.*151C= (n.*151C=)
c.3441+16278G= (n.3441+16278G=)
c.*583C= (n.*583C=)
c.1758C= (p.Pro586=)
c.276+16278G= (n.276+16278G=)
c.*220+6266C= (n.*220+6266C=)
c.882C= (p.Pro294=)
c.909C= (p.Pro303=)
c.1764C= (p.Pro588=)
c.1578C= (p.Pro526=)
c.1497C= (p.Pro499=)
c.1203C= (p.Pro401=)
c.1584C= (p.Pro528=)
2g.48687958G>TCA426125562GTF2A1L,LHCGR,STON1-GTF2A1Lc.1839C>A (p.Pro613=)
c.*151C>A (n.*151C>A)
c.3441+16278G>T (n.3441+16278G>T)
c.*583C>A (n.*583C>A)
c.1758C>A (p.Pro586=)
c.276+16278G>T (n.276+16278G>T)
c.*220+6266C>A (n.*220+6266C>A)
c.882C>A (p.Pro294=)
c.909C>A (p.Pro303=)
c.1764C>A (p.Pro588=)
c.1578C>A (p.Pro526=)
c.1497C>A (p.Pro499=)
c.1203C>A (p.Pro401=)
c.1584C>A (p.Pro528=)
 dbSNP gnomAD v4
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)

Number of alleles fetched