Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.48687923_48687924delCA532706160GTF2A1L,LHCGR,STON1-GTF2A1Lc.1875_1876del (p.Phe626HisfsTer2)
c.*187_*188del (n.*187_*188del)
c.3441+16243_3441+16244del (n.3441+16243_3441+16244del)
c.*619_*620del (n.*619_*620del)
c.1794_1795del (p.Phe599HisfsTer2)
c.276+16243_276+16244del (n.276+16243_276+16244del)
c.*220+6302_*220+6303del (n.*220+6302_*220+6303del)
c.918_919del (p.Phe307HisfsTer2)
c.945_946del (p.Phe316HisfsTer2)
c.1800_1801del (p.Phe601HisfsTer2)
c.1614_1615del (p.Phe539HisfsTer2)
c.1533_1534del (p.Phe512HisfsTer2)
c.1239_1240del (p.Phe414HisfsTer2)
c.1620_1621del (p.Phe541HisfsTer2)
 dbSNP gnomAD v2
2g.48687923A=CA1248600904GTF2A1L,LHCGR,STON1-GTF2A1Lc.1874T= (p.Ile625=)
c.*186T= (n.*186T=)
c.3441+16243A= (n.3441+16243A=)
c.*618T= (n.*618T=)
c.1793T= (p.Ile598=)
c.276+16243A= (n.276+16243A=)
c.*220+6301T= (n.*220+6301T=)
c.917T= (p.Ile306=)
c.944T= (p.Ile315=)
c.1799T= (p.Ile600=)
c.1613T= (p.Ile538=)
c.1532T= (p.Ile511=)
c.1238T= (p.Ile413=)
c.1619T= (p.Ile540=)
2g.48687923A>CCA346744039GTF2A1L,LHCGR,STON1-GTF2A1Lc.1874T>G (p.Ile625Arg)
c.*186T>G (n.*186T>G)
c.3441+16243A>C (n.3441+16243A>C)
c.*618T>G (n.*618T>G)
c.1793T>G (p.Ile598Arg)
c.276+16243A>C (n.276+16243A>C)
c.*220+6301T>G (n.*220+6301T>G)
c.917T>G (p.Ile306Arg)
c.944T>G (p.Ile315Arg)
c.1799T>G (p.Ile600Arg)
c.1613T>G (p.Ile538Arg)
c.1532T>G (p.Ile511Arg)
c.1238T>G (p.Ile413Arg)
c.1619T>G (p.Ile540Arg)
2g.48687923A>GCA346744041GTF2A1L,LHCGR,STON1-GTF2A1Lc.1874T>C (p.Ile625Thr)
c.*186T>C (n.*186T>C)
c.3441+16243A>G (n.3441+16243A>G)
c.*618T>C (n.*618T>C)
c.1793T>C (p.Ile598Thr)
c.276+16243A>G (n.276+16243A>G)
c.*220+6301T>C (n.*220+6301T>C)
c.917T>C (p.Ile306Thr)
c.944T>C (p.Ile315Thr)
c.1799T>C (p.Ile600Thr)
c.1613T>C (p.Ile538Thr)
c.1532T>C (p.Ile511Thr)
c.1238T>C (p.Ile413Thr)
c.1619T>C (p.Ile540Thr)
2g.48687923A>TCA123928GTF2A1L,LHCGR,STON1-GTF2A1Lc.1874T>A (p.Ile625Lys)
c.*186T>A (n.*186T>A)
c.3441+16243A>T (n.3441+16243A>T)
c.*618T>A (n.*618T>A)
c.1793T>A (p.Ile598Lys)
c.276+16243A>T (n.276+16243A>T)
c.*220+6301T>A (n.*220+6301T>A)
c.917T>A (p.Ile306Lys)
c.944T>A (p.Ile315Lys)
c.1799T>A (p.Ile600Lys)
c.1613T>A (p.Ile538Lys)
c.1532T>A (p.Ile511Lys)
c.1238T>A (p.Ile413Lys)
c.1619T>A (p.Ile540Lys)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
2g.48687924T>ACA346744059GTF2A1L,LHCGR,STON1-GTF2A1Lc.1873A>T (p.Ile625Leu)
c.*185A>T (n.*185A>T)
c.3441+16244T>A (n.3441+16244T>A)
c.*617A>T (n.*617A>T)
c.1792A>T (p.Ile598Leu)
c.276+16244T>A (n.276+16244T>A)
c.*220+6300A>T (n.*220+6300A>T)
c.916A>T (p.Ile306Leu)
c.943A>T (p.Ile315Leu)
c.1798A>T (p.Ile600Leu)
c.1612A>T (p.Ile538Leu)
c.1531A>T (p.Ile511Leu)
c.1237A>T (p.Ile413Leu)
c.1618A>T (p.Ile540Leu)
2g.48687924T>CCA346744061GTF2A1L,LHCGR,STON1-GTF2A1Lc.1873A>G (p.Ile625Val)
c.*185A>G (n.*185A>G)
c.3441+16244T>C (n.3441+16244T>C)
c.*617A>G (n.*617A>G)
c.1792A>G (p.Ile598Val)
c.276+16244T>C (n.276+16244T>C)
c.*220+6300A>G (n.*220+6300A>G)
c.916A>G (p.Ile306Val)
c.943A>G (p.Ile315Val)
c.1798A>G (p.Ile600Val)
c.1612A>G (p.Ile538Val)
c.1531A>G (p.Ile511Val)
c.1237A>G (p.Ile413Val)
c.1618A>G (p.Ile540Val)
 gnomAD v4
2g.48687924T>GCA346744063GTF2A1L,LHCGR,STON1-GTF2A1Lc.1873A>C (p.Ile625Leu)
c.*185A>C (n.*185A>C)
c.3441+16244T>G (n.3441+16244T>G)
c.*617A>C (n.*617A>C)
c.1792A>C (p.Ile598Leu)
c.276+16244T>G (n.276+16244T>G)
c.*220+6300A>C (n.*220+6300A>C)
c.916A>C (p.Ile306Leu)
c.943A>C (p.Ile315Leu)
c.1798A>C (p.Ile600Leu)
c.1612A>C (p.Ile538Leu)
c.1531A>C (p.Ile511Leu)
c.1237A>C (p.Ile413Leu)
c.1618A>C (p.Ile540Leu)
2g.48687925T>ACA426125423GTF2A1L,LHCGR,STON1-GTF2A1Lc.1872A>T (p.Ala624=)
c.*184A>T (n.*184A>T)
c.3441+16245T>A (n.3441+16245T>A)
c.*616A>T (n.*616A>T)
c.1791A>T (p.Ala597=)
c.276+16245T>A (n.276+16245T>A)
c.*220+6299A>T (n.*220+6299A>T)
c.915A>T (p.Ala305=)
c.942A>T (p.Ala314=)
c.1797A>T (p.Ala599=)
c.1611A>T (p.Ala537=)
c.1530A>T (p.Ala510=)
c.1236A>T (p.Ala412=)
c.1617A>T (p.Ala539=)
2g.48687925T>CCA426125424GTF2A1L,LHCGR,STON1-GTF2A1Lc.1872A>G (p.Ala624=)
c.*184A>G (n.*184A>G)
c.3441+16245T>C (n.3441+16245T>C)
c.*616A>G (n.*616A>G)
c.1791A>G (p.Ala597=)
c.276+16245T>C (n.276+16245T>C)
c.*220+6299A>G (n.*220+6299A>G)
c.915A>G (p.Ala305=)
c.942A>G (p.Ala314=)
c.1797A>G (p.Ala599=)
c.1611A>G (p.Ala537=)
c.1530A>G (p.Ala510=)
c.1236A>G (p.Ala412=)
c.1617A>G (p.Ala539=)
2g.48687925T>GCA426125425GTF2A1L,LHCGR,STON1-GTF2A1Lc.1872A>C (p.Ala624=)
c.*184A>C (n.*184A>C)
c.3441+16245T>G (n.3441+16245T>G)
c.*616A>C (n.*616A>C)
c.1791A>C (p.Ala597=)
c.276+16245T>G (n.276+16245T>G)
c.*220+6299A>C (n.*220+6299A>C)
c.915A>C (p.Ala305=)
c.942A>C (p.Ala314=)
c.1797A>C (p.Ala599=)
c.1611A>C (p.Ala537=)
c.1530A>C (p.Ala510=)
c.1236A>C (p.Ala412=)
c.1617A>C (p.Ala539=)
2g.48687926G>ACA346744066GTF2A1L,LHCGR,STON1-GTF2A1Lc.1871C>T (p.Ala624Val)
c.*183C>T (n.*183C>T)
c.3441+16246G>A (n.3441+16246G>A)
c.*615C>T (n.*615C>T)
c.1790C>T (p.Ala597Val)
c.276+16246G>A (n.276+16246G>A)
c.*220+6298C>T (n.*220+6298C>T)
c.914C>T (p.Ala305Val)
c.941C>T (p.Ala314Val)
c.1796C>T (p.Ala599Val)
c.1610C>T (p.Ala537Val)
c.1529C>T (p.Ala510Val)
c.1235C>T (p.Ala412Val)
c.1616C>T (p.Ala539Val)
 dbSNP
2g.48687926G>CCA346744067GTF2A1L,LHCGR,STON1-GTF2A1Lc.1871C>G (p.Ala624Gly)
c.*183C>G (n.*183C>G)
c.3441+16246G>C (n.3441+16246G>C)
c.*615C>G (n.*615C>G)
c.1790C>G (p.Ala597Gly)
c.276+16246G>C (n.276+16246G>C)
c.*220+6298C>G (n.*220+6298C>G)
c.914C>G (p.Ala305Gly)
c.941C>G (p.Ala314Gly)
c.1796C>G (p.Ala599Gly)
c.1610C>G (p.Ala537Gly)
c.1529C>G (p.Ala510Gly)
c.1235C>G (p.Ala412Gly)
c.1616C>G (p.Ala539Gly)
2g.48687926G=CA1248600905GTF2A1L,LHCGR,STON1-GTF2A1Lc.1871C= (p.Ala624=)
c.*183C= (n.*183C=)
c.3441+16246G= (n.3441+16246G=)
c.*615C= (n.*615C=)
c.1790C= (p.Ala597=)
c.276+16246G= (n.276+16246G=)
c.*220+6298C= (n.*220+6298C=)
c.914C= (p.Ala305=)
c.941C= (p.Ala314=)
c.1796C= (p.Ala599=)
c.1610C= (p.Ala537=)
c.1529C= (p.Ala510=)
c.1235C= (p.Ala412=)
c.1616C= (p.Ala539=)
2g.48687926G>TCA346744068GTF2A1L,LHCGR,STON1-GTF2A1Lc.1871C>A (p.Ala624Glu)
c.*183C>A (n.*183C>A)
c.3441+16246G>T (n.3441+16246G>T)
c.*615C>A (n.*615C>A)
c.1790C>A (p.Ala597Glu)
c.276+16246G>T (n.276+16246G>T)
c.*220+6298C>A (n.*220+6298C>A)
c.914C>A (p.Ala305Glu)
c.941C>A (p.Ala314Glu)
c.1796C>A (p.Ala599Glu)
c.1610C>A (p.Ala537Glu)
c.1529C>A (p.Ala510Glu)
c.1235C>A (p.Ala412Glu)
c.1616C>A (p.Ala539Glu)
2g.48687926_48687927insTTCA532706161GTF2A1L,LHCGR,STON1-GTF2A1Lc.1870_1871insAA (p.Ala624GlufsTer16)
c.*182_*183insAA (n.*182_*183insAA)
c.3441+16246_3441+16247insTT (n.3441+16246_3441+16247insTT)
c.*614_*615insAA (n.*614_*615insAA)
c.1789_1790insAA (p.Ala597GlufsTer16)
c.276+16246_276+16247insTT (n.276+16246_276+16247insTT)
c.*220+6297_*220+6298insAA (n.*220+6297_*220+6298insAA)
c.913_914insAA (p.Ala305GlufsTer16)
c.940_941insAA (p.Ala314GlufsTer16)
c.1795_1796insAA (p.Ala599GlufsTer16)
c.1609_1610insAA (p.Ala537GlufsTer16)
c.1528_1529insAA (p.Ala510GlufsTer16)
c.1234_1235insAA (p.Ala412GlufsTer16)
c.1615_1616insAA (p.Ala539GlufsTer16)
 dbSNP gnomAD v2
2g.48687927C>ACA346744069GTF2A1L,LHCGR,STON1-GTF2A1Lc.1870G>T (p.Ala624Ser)
c.*182G>T (n.*182G>T)
c.3441+16247C>A (n.3441+16247C>A)
c.*614G>T (n.*614G>T)
c.1789G>T (p.Ala597Ser)
c.276+16247C>A (n.276+16247C>A)
c.*220+6297G>T (n.*220+6297G>T)
c.913G>T (p.Ala305Ser)
c.940G>T (p.Ala314Ser)
c.1795G>T (p.Ala599Ser)
c.1609G>T (p.Ala537Ser)
c.1528G>T (p.Ala510Ser)
c.1234G>T (p.Ala412Ser)
c.1615G>T (p.Ala539Ser)
2g.48687927C>GCA346744072GTF2A1L,LHCGR,STON1-GTF2A1Lc.1870G>C (p.Ala624Pro)
c.*182G>C (n.*182G>C)
c.3441+16247C>G (n.3441+16247C>G)
c.*614G>C (n.*614G>C)
c.1789G>C (p.Ala597Pro)
c.276+16247C>G (n.276+16247C>G)
c.*220+6297G>C (n.*220+6297G>C)
c.913G>C (p.Ala305Pro)
c.940G>C (p.Ala314Pro)
c.1795G>C (p.Ala599Pro)
c.1609G>C (p.Ala537Pro)
c.1528G>C (p.Ala510Pro)
c.1234G>C (p.Ala412Pro)
c.1615G>C (p.Ala539Pro)
2g.48687927C>TCA346744076GTF2A1L,LHCGR,STON1-GTF2A1Lc.1870G>A (p.Ala624Thr)
c.*182G>A (n.*182G>A)
c.3441+16247C>T (n.3441+16247C>T)
c.*614G>A (n.*614G>A)
c.1789G>A (p.Ala597Thr)
c.276+16247C>T (n.276+16247C>T)
c.*220+6297G>A (n.*220+6297G>A)
c.913G>A (p.Ala305Thr)
c.940G>A (p.Ala314Thr)
c.1795G>A (p.Ala599Thr)
c.1609G>A (p.Ala537Thr)
c.1528G>A (p.Ala510Thr)
c.1234G>A (p.Ala412Thr)
c.1615G>A (p.Ala539Thr)
2g.48687928A=CA1248600906GTF2A1L,LHCGR,STON1-GTF2A1Lc.1869T= (p.Tyr623=)
c.*181T= (n.*181T=)
c.3441+16248A= (n.3441+16248A=)
c.*613T= (n.*613T=)
c.1788T= (p.Tyr596=)
c.276+16248A= (n.276+16248A=)
c.*220+6296T= (n.*220+6296T=)
c.912T= (p.Tyr304=)
c.939T= (p.Tyr313=)
c.1794T= (p.Tyr598=)
c.1608T= (p.Tyr536=)
c.1527T= (p.Tyr509=)
c.1233T= (p.Tyr411=)
c.1614T= (p.Tyr538=)
2g.48687928A>CCA346744078GTF2A1L,LHCGR,STON1-GTF2A1Lc.1869T>G (p.Tyr623Ter)
c.*181T>G (n.*181T>G)
c.3441+16248A>C (n.3441+16248A>C)
c.*613T>G (n.*613T>G)
c.1788T>G (p.Tyr596Ter)
c.276+16248A>C (n.276+16248A>C)
c.*220+6296T>G (n.*220+6296T>G)
c.912T>G (p.Tyr304Ter)
c.939T>G (p.Tyr313Ter)
c.1794T>G (p.Tyr598Ter)
c.1608T>G (p.Tyr536Ter)
c.1527T>G (p.Tyr509Ter)
c.1233T>G (p.Tyr411Ter)
c.1614T>G (p.Tyr538Ter)
 ClinVar dbSNP
2g.48687928A>GCA1652974GTF2A1L,LHCGR,STON1-GTF2A1Lc.1869T>C (p.Tyr623=)
c.*181T>C (n.*181T>C)
c.3441+16248A>G (n.3441+16248A>G)
c.*613T>C (n.*613T>C)
c.1788T>C (p.Tyr596=)
c.276+16248A>G (n.276+16248A>G)
c.*220+6296T>C (n.*220+6296T>C)
c.912T>C (p.Tyr304=)
c.939T>C (p.Tyr313=)
c.1794T>C (p.Tyr598=)
c.1608T>C (p.Tyr536=)
c.1527T>C (p.Tyr509=)
c.1233T>C (p.Tyr411=)
c.1614T>C (p.Tyr538=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48687928A>TCA346744082GTF2A1L,LHCGR,STON1-GTF2A1Lc.1869T>A (p.Tyr623Ter)
c.*181T>A (n.*181T>A)
c.3441+16248A>T (n.3441+16248A>T)
c.*613T>A (n.*613T>A)
c.1788T>A (p.Tyr596Ter)
c.276+16248A>T (n.276+16248A>T)
c.*220+6296T>A (n.*220+6296T>A)
c.912T>A (p.Tyr304Ter)
c.939T>A (p.Tyr313Ter)
c.1794T>A (p.Tyr598Ter)
c.1608T>A (p.Tyr536Ter)
c.1527T>A (p.Tyr509Ter)
c.1233T>A (p.Tyr411Ter)
c.1614T>A (p.Tyr538Ter)
 dbSNP gnomAD v2
2g.48687929T>ACA346744084GTF2A1L,LHCGR,STON1-GTF2A1Lc.1868A>T (p.Tyr623Phe)
c.*180A>T (n.*180A>T)
c.3441+16249T>A (n.3441+16249T>A)
c.*612A>T (n.*612A>T)
c.1787A>T (p.Tyr596Phe)
c.276+16249T>A (n.276+16249T>A)
c.*220+6295A>T (n.*220+6295A>T)
c.911A>T (p.Tyr304Phe)
c.938A>T (p.Tyr313Phe)
c.1793A>T (p.Tyr598Phe)
c.1607A>T (p.Tyr536Phe)
c.1526A>T (p.Tyr509Phe)
c.1232A>T (p.Tyr411Phe)
c.1613A>T (p.Tyr538Phe)
2g.48687929T>CCA346744086GTF2A1L,LHCGR,STON1-GTF2A1Lc.1868A>G (p.Tyr623Cys)
c.*180A>G (n.*180A>G)
c.3441+16249T>C (n.3441+16249T>C)
c.*612A>G (n.*612A>G)
c.1787A>G (p.Tyr596Cys)
c.276+16249T>C (n.276+16249T>C)
c.*220+6295A>G (n.*220+6295A>G)
c.911A>G (p.Tyr304Cys)
c.938A>G (p.Tyr313Cys)
c.1793A>G (p.Tyr598Cys)
c.1607A>G (p.Tyr536Cys)
c.1526A>G (p.Tyr509Cys)
c.1232A>G (p.Tyr411Cys)
c.1613A>G (p.Tyr538Cys)
2g.48687929T>GCA346744085GTF2A1L,LHCGR,STON1-GTF2A1Lc.1868A>C (p.Tyr623Ser)
c.*180A>C (n.*180A>C)
c.3441+16249T>G (n.3441+16249T>G)
c.*612A>C (n.*612A>C)
c.1787A>C (p.Tyr596Ser)
c.276+16249T>G (n.276+16249T>G)
c.*220+6295A>C (n.*220+6295A>C)
c.911A>C (p.Tyr304Ser)
c.938A>C (p.Tyr313Ser)
c.1793A>C (p.Tyr598Ser)
c.1607A>C (p.Tyr536Ser)
c.1526A>C (p.Tyr509Ser)
c.1232A>C (p.Tyr411Ser)
c.1613A>C (p.Tyr538Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48687929T=CA1248600907GTF2A1L,LHCGR,STON1-GTF2A1Lc.1868A= (p.Tyr623=)
c.*180A= (n.*180A=)
c.3441+16249T= (n.3441+16249T=)
c.*612A= (n.*612A=)
c.1787A= (p.Tyr596=)
c.276+16249T= (n.276+16249T=)
c.*220+6295A= (n.*220+6295A=)
c.911A= (p.Tyr304=)
c.938A= (p.Tyr313=)
c.1793A= (p.Tyr598=)
c.1607A= (p.Tyr536=)
c.1526A= (p.Tyr509=)
c.1232A= (p.Tyr411=)
c.1613A= (p.Tyr538=)
2g.48687930A>CCA346744087GTF2A1L,LHCGR,STON1-GTF2A1Lc.1867T>G (p.Tyr623Asp)
c.*179T>G (n.*179T>G)
c.3441+16250A>C (n.3441+16250A>C)
c.*611T>G (n.*611T>G)
c.1786T>G (p.Tyr596Asp)
c.276+16250A>C (n.276+16250A>C)
c.*220+6294T>G (n.*220+6294T>G)
c.910T>G (p.Tyr304Asp)
c.937T>G (p.Tyr313Asp)
c.1792T>G (p.Tyr598Asp)
c.1606T>G (p.Tyr536Asp)
c.1525T>G (p.Tyr509Asp)
c.1231T>G (p.Tyr411Asp)
c.1612T>G (p.Tyr538Asp)
2g.48687930A>GCA346744088GTF2A1L,LHCGR,STON1-GTF2A1Lc.1867T>C (p.Tyr623His)
c.*179T>C (n.*179T>C)
c.3441+16250A>G (n.3441+16250A>G)
c.*611T>C (n.*611T>C)
c.1786T>C (p.Tyr596His)
c.276+16250A>G (n.276+16250A>G)
c.*220+6294T>C (n.*220+6294T>C)
c.910T>C (p.Tyr304His)
c.937T>C (p.Tyr313His)
c.1792T>C (p.Tyr598His)
c.1606T>C (p.Tyr536His)
c.1525T>C (p.Tyr509His)
c.1231T>C (p.Tyr411His)
c.1612T>C (p.Tyr538His)
2g.48687930A>TCA346744089GTF2A1L,LHCGR,STON1-GTF2A1Lc.1867T>A (p.Tyr623Asn)
c.*179T>A (n.*179T>A)
c.3441+16250A>T (n.3441+16250A>T)
c.*611T>A (n.*611T>A)
c.1786T>A (p.Tyr596Asn)
c.276+16250A>T (n.276+16250A>T)
c.*220+6294T>A (n.*220+6294T>A)
c.910T>A (p.Tyr304Asn)
c.937T>A (p.Tyr313Asn)
c.1792T>A (p.Tyr598Asn)
c.1606T>A (p.Tyr536Asn)
c.1525T>A (p.Tyr509Asn)
c.1231T>A (p.Tyr411Asn)
c.1612T>A (p.Tyr538Asn)
2g.48687931C>ACA426125446GTF2A1L,LHCGR,STON1-GTF2A1Lc.1866G>T (p.Leu622=)
c.*178G>T (n.*178G>T)
c.3441+16251C>A (n.3441+16251C>A)
c.*610G>T (n.*610G>T)
c.1785G>T (p.Leu595=)
c.276+16251C>A (n.276+16251C>A)
c.*220+6293G>T (n.*220+6293G>T)
c.909G>T (p.Leu303=)
c.936G>T (p.Leu312=)
c.1791G>T (p.Leu597=)
c.1605G>T (p.Leu535=)
c.1524G>T (p.Leu508=)
c.1230G>T (p.Leu410=)
c.1611G>T (p.Leu537=)
2g.48687931C=CA1248600908GTF2A1L,LHCGR,STON1-GTF2A1Lc.1866G= (p.Leu622=)
c.*178G= (n.*178G=)
c.3441+16251C= (n.3441+16251C=)
c.*610G= (n.*610G=)
c.1785G= (p.Leu595=)
c.276+16251C= (n.276+16251C=)
c.*220+6293G= (n.*220+6293G=)
c.909G= (p.Leu303=)
c.936G= (p.Leu312=)
c.1791G= (p.Leu597=)
c.1605G= (p.Leu535=)
c.1524G= (p.Leu508=)
c.1230G= (p.Leu410=)
c.1611G= (p.Leu537=)
2g.48687931C>GCA426125445GTF2A1L,LHCGR,STON1-GTF2A1Lc.1866G>C (p.Leu622=)
c.*178G>C (n.*178G>C)
c.3441+16251C>G (n.3441+16251C>G)
c.*610G>C (n.*610G>C)
c.1785G>C (p.Leu595=)
c.276+16251C>G (n.276+16251C>G)
c.*220+6293G>C (n.*220+6293G>C)
c.909G>C (p.Leu303=)
c.936G>C (p.Leu312=)
c.1791G>C (p.Leu597=)
c.1605G>C (p.Leu535=)
c.1524G>C (p.Leu508=)
c.1230G>C (p.Leu410=)
c.1611G>C (p.Leu537=)
 dbSNP gnomAD v2 gnomAD v4
2g.48687931C>TCA426125443GTF2A1L,LHCGR,STON1-GTF2A1Lc.1866G>A (p.Leu622=)
c.*178G>A (n.*178G>A)
c.3441+16251C>T (n.3441+16251C>T)
c.*610G>A (n.*610G>A)
c.1785G>A (p.Leu595=)
c.276+16251C>T (n.276+16251C>T)
c.*220+6293G>A (n.*220+6293G>A)
c.909G>A (p.Leu303=)
c.936G>A (p.Leu312=)
c.1791G>A (p.Leu597=)
c.1605G>A (p.Leu535=)
c.1524G>A (p.Leu508=)
c.1230G>A (p.Leu410=)
c.1611G>A (p.Leu537=)
2g.48687932A>CCA346744091GTF2A1L,LHCGR,STON1-GTF2A1Lc.1865T>G (p.Leu622Arg)
c.*177T>G (n.*177T>G)
c.3441+16252A>C (n.3441+16252A>C)
c.*609T>G (n.*609T>G)
c.1784T>G (p.Leu595Arg)
c.276+16252A>C (n.276+16252A>C)
c.*220+6292T>G (n.*220+6292T>G)
c.908T>G (p.Leu303Arg)
c.935T>G (p.Leu312Arg)
c.1790T>G (p.Leu597Arg)
c.1604T>G (p.Leu535Arg)
c.1523T>G (p.Leu508Arg)
c.1229T>G (p.Leu410Arg)
c.1610T>G (p.Leu537Arg)
2g.48687932A>GCA346744092GTF2A1L,LHCGR,STON1-GTF2A1Lc.1865T>C (p.Leu622Pro)
c.*177T>C (n.*177T>C)
c.3441+16252A>G (n.3441+16252A>G)
c.*609T>C (n.*609T>C)
c.1784T>C (p.Leu595Pro)
c.276+16252A>G (n.276+16252A>G)
c.*220+6292T>C (n.*220+6292T>C)
c.908T>C (p.Leu303Pro)
c.935T>C (p.Leu312Pro)
c.1790T>C (p.Leu597Pro)
c.1604T>C (p.Leu535Pro)
c.1523T>C (p.Leu508Pro)
c.1229T>C (p.Leu410Pro)
c.1610T>C (p.Leu537Pro)
2g.48687932A>TCA346744093GTF2A1L,LHCGR,STON1-GTF2A1Lc.1865T>A (p.Leu622Gln)
c.*177T>A (n.*177T>A)
c.3441+16252A>T (n.3441+16252A>T)
c.*609T>A (n.*609T>A)
c.1784T>A (p.Leu595Gln)
c.276+16252A>T (n.276+16252A>T)
c.*220+6292T>A (n.*220+6292T>A)
c.908T>A (p.Leu303Gln)
c.935T>A (p.Leu312Gln)
c.1790T>A (p.Leu597Gln)
c.1604T>A (p.Leu535Gln)
c.1523T>A (p.Leu508Gln)
c.1229T>A (p.Leu410Gln)
c.1610T>A (p.Leu537Gln)
2g.48687933G>ACA426125455GTF2A1L,LHCGR,STON1-GTF2A1Lc.1864C>T (p.Leu622=)
c.*176C>T (n.*176C>T)
c.3441+16253G>A (n.3441+16253G>A)
c.*608C>T (n.*608C>T)
c.1783C>T (p.Leu595=)
c.276+16253G>A (n.276+16253G>A)
c.*220+6291C>T (n.*220+6291C>T)
c.907C>T (p.Leu303=)
c.934C>T (p.Leu312=)
c.1789C>T (p.Leu597=)
c.1603C>T (p.Leu535=)
c.1522C>T (p.Leu508=)
c.1228C>T (p.Leu410=)
c.1609C>T (p.Leu537=)
2g.48687933G>CCA346744094GTF2A1L,LHCGR,STON1-GTF2A1Lc.1864C>G (p.Leu622Val)
c.*176C>G (n.*176C>G)
c.3441+16253G>C (n.3441+16253G>C)
c.*608C>G (n.*608C>G)
c.1783C>G (p.Leu595Val)
c.276+16253G>C (n.276+16253G>C)
c.*220+6291C>G (n.*220+6291C>G)
c.907C>G (p.Leu303Val)
c.934C>G (p.Leu312Val)
c.1789C>G (p.Leu597Val)
c.1603C>G (p.Leu535Val)
c.1522C>G (p.Leu508Val)
c.1228C>G (p.Leu410Val)
c.1609C>G (p.Leu537Val)
2g.48687933G=CA1248600909GTF2A1L,LHCGR,STON1-GTF2A1Lc.1864C= (p.Leu622=)
c.*176C= (n.*176C=)
c.3441+16253G= (n.3441+16253G=)
c.*608C= (n.*608C=)
c.1783C= (p.Leu595=)
c.276+16253G= (n.276+16253G=)
c.*220+6291C= (n.*220+6291C=)
c.907C= (p.Leu303=)
c.934C= (p.Leu312=)
c.1789C= (p.Leu597=)
c.1603C= (p.Leu535=)
c.1522C= (p.Leu508=)
c.1228C= (p.Leu410=)
c.1609C= (p.Leu537=)
2g.48687933G>TCA346744096GTF2A1L,LHCGR,STON1-GTF2A1Lc.1864C>A (p.Leu622Met)
c.*176C>A (n.*176C>A)
c.3441+16253G>T (n.3441+16253G>T)
c.*608C>A (n.*608C>A)
c.1783C>A (p.Leu595Met)
c.276+16253G>T (n.276+16253G>T)
c.*220+6291C>A (n.*220+6291C>A)
c.907C>A (p.Leu303Met)
c.934C>A (p.Leu312Met)
c.1789C>A (p.Leu597Met)
c.1603C>A (p.Leu535Met)
c.1522C>A (p.Leu508Met)
c.1228C>A (p.Leu410Met)
c.1609C>A (p.Leu537Met)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
2g.48687934A>CCA346744104GTF2A1L,LHCGR,STON1-GTF2A1Lc.1863T>G (p.Phe621Leu)
c.*175T>G (n.*175T>G)
c.3441+16254A>C (n.3441+16254A>C)
c.*607T>G (n.*607T>G)
c.1782T>G (p.Phe594Leu)
c.276+16254A>C (n.276+16254A>C)
c.*220+6290T>G (n.*220+6290T>G)
c.906T>G (p.Phe302Leu)
c.933T>G (p.Phe311Leu)
c.1788T>G (p.Phe596Leu)
c.1602T>G (p.Phe534Leu)
c.1521T>G (p.Phe507Leu)
c.1227T>G (p.Phe409Leu)
c.1608T>G (p.Phe536Leu)
2g.48687934A>GCA426125462GTF2A1L,LHCGR,STON1-GTF2A1Lc.1863T>C (p.Phe621=)
c.*175T>C (n.*175T>C)
c.3441+16254A>G (n.3441+16254A>G)
c.*607T>C (n.*607T>C)
c.1782T>C (p.Phe594=)
c.276+16254A>G (n.276+16254A>G)
c.*220+6290T>C (n.*220+6290T>C)
c.906T>C (p.Phe302=)
c.933T>C (p.Phe311=)
c.1788T>C (p.Phe596=)
c.1602T>C (p.Phe534=)
c.1521T>C (p.Phe507=)
c.1227T>C (p.Phe409=)
c.1608T>C (p.Phe536=)
2g.48687934A>TCA346744108GTF2A1L,LHCGR,STON1-GTF2A1Lc.1863T>A (p.Phe621Leu)
c.*175T>A (n.*175T>A)
c.3441+16254A>T (n.3441+16254A>T)
c.*607T>A (n.*607T>A)
c.1782T>A (p.Phe594Leu)
c.276+16254A>T (n.276+16254A>T)
c.*220+6290T>A (n.*220+6290T>A)
c.906T>A (p.Phe302Leu)
c.933T>A (p.Phe311Leu)
c.1788T>A (p.Phe596Leu)
c.1602T>A (p.Phe534Leu)
c.1521T>A (p.Phe507Leu)
c.1227T>A (p.Phe409Leu)
c.1608T>A (p.Phe536Leu)
2g.48687935A=CA1248600910GTF2A1L,LHCGR,STON1-GTF2A1Lc.1862T= (p.Phe621=)
c.*174T= (n.*174T=)
c.3441+16255A= (n.3441+16255A=)
c.*606T= (n.*606T=)
c.1781T= (p.Phe594=)
c.276+16255A= (n.276+16255A=)
c.*220+6289T= (n.*220+6289T=)
c.905T= (p.Phe302=)
c.932T= (p.Phe311=)
c.1787T= (p.Phe596=)
c.1601T= (p.Phe534=)
c.1520T= (p.Phe507=)
c.1226T= (p.Phe409=)
c.1607T= (p.Phe536=)
2g.48687935A>CCA346744110GTF2A1L,LHCGR,STON1-GTF2A1Lc.1862T>G (p.Phe621Cys)
c.*174T>G (n.*174T>G)
c.3441+16255A>C (n.3441+16255A>C)
c.*606T>G (n.*606T>G)
c.1781T>G (p.Phe594Cys)
c.276+16255A>C (n.276+16255A>C)
c.*220+6289T>G (n.*220+6289T>G)
c.905T>G (p.Phe302Cys)
c.932T>G (p.Phe311Cys)
c.1787T>G (p.Phe596Cys)
c.1601T>G (p.Phe534Cys)
c.1520T>G (p.Phe507Cys)
c.1226T>G (p.Phe409Cys)
c.1607T>G (p.Phe536Cys)
2g.48687935A>GCA46752647GTF2A1L,LHCGR,STON1-GTF2A1Lc.1862T>C (p.Phe621Ser)
c.*174T>C (n.*174T>C)
c.3441+16255A>G (n.3441+16255A>G)
c.*606T>C (n.*606T>C)
c.1781T>C (p.Phe594Ser)
c.276+16255A>G (n.276+16255A>G)
c.*220+6289T>C (n.*220+6289T>C)
c.905T>C (p.Phe302Ser)
c.932T>C (p.Phe311Ser)
c.1787T>C (p.Phe596Ser)
c.1601T>C (p.Phe534Ser)
c.1520T>C (p.Phe507Ser)
c.1226T>C (p.Phe409Ser)
c.1607T>C (p.Phe536Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48687935A>TCA346744119GTF2A1L,LHCGR,STON1-GTF2A1Lc.1862T>A (p.Phe621Tyr)
c.*174T>A (n.*174T>A)
c.3441+16255A>T (n.3441+16255A>T)
c.*606T>A (n.*606T>A)
c.1781T>A (p.Phe594Tyr)
c.276+16255A>T (n.276+16255A>T)
c.*220+6289T>A (n.*220+6289T>A)
c.905T>A (p.Phe302Tyr)
c.932T>A (p.Phe311Tyr)
c.1787T>A (p.Phe596Tyr)
c.1601T>A (p.Phe534Tyr)
c.1520T>A (p.Phe507Tyr)
c.1226T>A (p.Phe409Tyr)
c.1607T>A (p.Phe536Tyr)
2g.48687936A>CCA346744139GTF2A1L,LHCGR,STON1-GTF2A1Lc.1861T>G (p.Phe621Val)
c.*173T>G (n.*173T>G)
c.3441+16256A>C (n.3441+16256A>C)
c.*605T>G (n.*605T>G)
c.1780T>G (p.Phe594Val)
c.276+16256A>C (n.276+16256A>C)
c.*220+6288T>G (n.*220+6288T>G)
c.904T>G (p.Phe302Val)
c.931T>G (p.Phe311Val)
c.1786T>G (p.Phe596Val)
c.1600T>G (p.Phe534Val)
c.1519T>G (p.Phe507Val)
c.1225T>G (p.Phe409Val)
c.1606T>G (p.Phe536Val)
2g.48687936A>GCA346744128GTF2A1L,LHCGR,STON1-GTF2A1Lc.1861T>C (p.Phe621Leu)
c.*173T>C (n.*173T>C)
c.3441+16256A>G (n.3441+16256A>G)
c.*605T>C (n.*605T>C)
c.1780T>C (p.Phe594Leu)
c.276+16256A>G (n.276+16256A>G)
c.*220+6288T>C (n.*220+6288T>C)
c.904T>C (p.Phe302Leu)
c.931T>C (p.Phe311Leu)
c.1786T>C (p.Phe596Leu)
c.1600T>C (p.Phe534Leu)
c.1519T>C (p.Phe507Leu)
c.1225T>C (p.Phe409Leu)
c.1606T>C (p.Phe536Leu)
2g.48687936A>TCA346744136GTF2A1L,LHCGR,STON1-GTF2A1Lc.1861T>A (p.Phe621Ile)
c.*173T>A (n.*173T>A)
c.3441+16256A>T (n.3441+16256A>T)
c.*605T>A (n.*605T>A)
c.1780T>A (p.Phe594Ile)
c.276+16256A>T (n.276+16256A>T)
c.*220+6288T>A (n.*220+6288T>A)
c.904T>A (p.Phe302Ile)
c.931T>A (p.Phe311Ile)
c.1786T>A (p.Phe596Ile)
c.1600T>A (p.Phe534Ile)
c.1519T>A (p.Phe507Ile)
c.1225T>A (p.Phe409Ile)
c.1606T>A (p.Phe536Ile)
2g.48687937T>ACA426125471GTF2A1L,LHCGR,STON1-GTF2A1Lc.1860A>T (p.Pro620=)
c.*172A>T (n.*172A>T)
c.3441+16257T>A (n.3441+16257T>A)
c.*604A>T (n.*604A>T)
c.1779A>T (p.Pro593=)
c.276+16257T>A (n.276+16257T>A)
c.*220+6287A>T (n.*220+6287A>T)
c.903A>T (p.Pro301=)
c.930A>T (p.Pro310=)
c.1785A>T (p.Pro595=)
c.1599A>T (p.Pro533=)
c.1518A>T (p.Pro506=)
c.1224A>T (p.Pro408=)
c.1605A>T (p.Pro535=)
 gnomAD v4
2g.48687937T>CCA426125474GTF2A1L,LHCGR,STON1-GTF2A1Lc.1860A>G (p.Pro620=)
c.*172A>G (n.*172A>G)
c.3441+16257T>C (n.3441+16257T>C)
c.*604A>G (n.*604A>G)
c.1779A>G (p.Pro593=)
c.276+16257T>C (n.276+16257T>C)
c.*220+6287A>G (n.*220+6287A>G)
c.903A>G (p.Pro301=)
c.930A>G (p.Pro310=)
c.1785A>G (p.Pro595=)
c.1599A>G (p.Pro533=)
c.1518A>G (p.Pro506=)
c.1224A>G (p.Pro408=)
c.1605A>G (p.Pro535=)
 dbSNP gnomAD v2 gnomAD v4
2g.48687937T>GCA426125475GTF2A1L,LHCGR,STON1-GTF2A1Lc.1860A>C (p.Pro620=)
c.*172A>C (n.*172A>C)
c.3441+16257T>G (n.3441+16257T>G)
c.*604A>C (n.*604A>C)
c.1779A>C (p.Pro593=)
c.276+16257T>G (n.276+16257T>G)
c.*220+6287A>C (n.*220+6287A>C)
c.903A>C (p.Pro301=)
c.930A>C (p.Pro310=)
c.1785A>C (p.Pro595=)
c.1599A>C (p.Pro533=)
c.1518A>C (p.Pro506=)
c.1224A>C (p.Pro408=)
c.1605A>C (p.Pro535=)
2g.48687937T=CA1248600911GTF2A1L,LHCGR,STON1-GTF2A1Lc.1860A= (p.Pro620=)
c.*172A= (n.*172A=)
c.3441+16257T= (n.3441+16257T=)
c.*604A= (n.*604A=)
c.1779A= (p.Pro593=)
c.276+16257T= (n.276+16257T=)
c.*220+6287A= (n.*220+6287A=)
c.903A= (p.Pro301=)
c.930A= (p.Pro310=)
c.1785A= (p.Pro595=)
c.1599A= (p.Pro533=)
c.1518A= (p.Pro506=)
c.1224A= (p.Pro408=)
c.1605A= (p.Pro535=)
2g.48687938G>ACA346744144GTF2A1L,LHCGR,STON1-GTF2A1Lc.1859C>T (p.Pro620Leu)
c.*171C>T (n.*171C>T)
c.3441+16258G>A (n.3441+16258G>A)
c.*603C>T (n.*603C>T)
c.1778C>T (p.Pro593Leu)
c.276+16258G>A (n.276+16258G>A)
c.*220+6286C>T (n.*220+6286C>T)
c.902C>T (p.Pro301Leu)
c.929C>T (p.Pro310Leu)
c.1784C>T (p.Pro595Leu)
c.1598C>T (p.Pro533Leu)
c.1517C>T (p.Pro506Leu)
c.1223C>T (p.Pro408Leu)
c.1604C>T (p.Pro535Leu)
 gnomAD v4
2g.48687938G>CCA346744145GTF2A1L,LHCGR,STON1-GTF2A1Lc.1859C>G (p.Pro620Arg)
c.*171C>G (n.*171C>G)
c.3441+16258G>C (n.3441+16258G>C)
c.*603C>G (n.*603C>G)
c.1778C>G (p.Pro593Arg)
c.276+16258G>C (n.276+16258G>C)
c.*220+6286C>G (n.*220+6286C>G)
c.902C>G (p.Pro301Arg)
c.929C>G (p.Pro310Arg)
c.1784C>G (p.Pro595Arg)
c.1598C>G (p.Pro533Arg)
c.1517C>G (p.Pro506Arg)
c.1223C>G (p.Pro408Arg)
c.1604C>G (p.Pro535Arg)
2g.48687938G>TCA346744146GTF2A1L,LHCGR,STON1-GTF2A1Lc.1859C>A (p.Pro620Gln)
c.*171C>A (n.*171C>A)
c.3441+16258G>T (n.3441+16258G>T)
c.*603C>A (n.*603C>A)
c.1778C>A (p.Pro593Gln)
c.276+16258G>T (n.276+16258G>T)
c.*220+6286C>A (n.*220+6286C>A)
c.902C>A (p.Pro301Gln)
c.929C>A (p.Pro310Gln)
c.1784C>A (p.Pro595Gln)
c.1598C>A (p.Pro533Gln)
c.1517C>A (p.Pro506Gln)
c.1223C>A (p.Pro408Gln)
c.1604C>A (p.Pro535Gln)
2g.48687939G>ACA346744147GTF2A1L,LHCGR,STON1-GTF2A1Lc.1858C>T (p.Pro620Ser)
c.*170C>T (n.*170C>T)
c.3441+16259G>A (n.3441+16259G>A)
c.*602C>T (n.*602C>T)
c.1777C>T (p.Pro593Ser)
c.276+16259G>A (n.276+16259G>A)
c.*220+6285C>T (n.*220+6285C>T)
c.901C>T (p.Pro301Ser)
c.928C>T (p.Pro310Ser)
c.1783C>T (p.Pro595Ser)
c.1597C>T (p.Pro533Ser)
c.1516C>T (p.Pro506Ser)
c.1222C>T (p.Pro408Ser)
c.1603C>T (p.Pro535Ser)
 COSMIC
2g.48687939G>CCA1652975GTF2A1L,LHCGR,STON1-GTF2A1Lc.1858C>G (p.Pro620Ala)
c.*170C>G (n.*170C>G)
c.3441+16259G>C (n.3441+16259G>C)
c.*602C>G (n.*602C>G)
c.1777C>G (p.Pro593Ala)
c.276+16259G>C (n.276+16259G>C)
c.*220+6285C>G (n.*220+6285C>G)
c.901C>G (p.Pro301Ala)
c.928C>G (p.Pro310Ala)
c.1783C>G (p.Pro595Ala)
c.1597C>G (p.Pro533Ala)
c.1516C>G (p.Pro506Ala)
c.1222C>G (p.Pro408Ala)
c.1603C>G (p.Pro535Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48687939G=CA1248600912GTF2A1L,LHCGR,STON1-GTF2A1Lc.1858C= (p.Pro620=)
c.*170C= (n.*170C=)
c.3441+16259G= (n.3441+16259G=)
c.*602C= (n.*602C=)
c.1777C= (p.Pro593=)
c.276+16259G= (n.276+16259G=)
c.*220+6285C= (n.*220+6285C=)
c.901C= (p.Pro301=)
c.928C= (p.Pro310=)
c.1783C= (p.Pro595=)
c.1597C= (p.Pro533=)
c.1516C= (p.Pro506=)
c.1222C= (p.Pro408=)
c.1603C= (p.Pro535=)
2g.48687939G>TCA346744155GTF2A1L,LHCGR,STON1-GTF2A1Lc.1858C>A (p.Pro620Thr)
c.*170C>A (n.*170C>A)
c.3441+16259G>T (n.3441+16259G>T)
c.*602C>A (n.*602C>A)
c.1777C>A (p.Pro593Thr)
c.276+16259G>T (n.276+16259G>T)
c.*220+6285C>A (n.*220+6285C>A)
c.901C>A (p.Pro301Thr)
c.928C>A (p.Pro310Thr)
c.1783C>A (p.Pro595Thr)
c.1597C>A (p.Pro533Thr)
c.1516C>A (p.Pro506Thr)
c.1222C>A (p.Pro408Thr)
c.1603C>A (p.Pro535Thr)
2g.48687940A>CCA346744158GTF2A1L,LHCGR,STON1-GTF2A1Lc.1857T>G (p.Asn619Lys)
c.*169T>G (n.*169T>G)
c.3441+16260A>C (n.3441+16260A>C)
c.*601T>G (n.*601T>G)
c.1776T>G (p.Asn592Lys)
c.276+16260A>C (n.276+16260A>C)
c.*220+6284T>G (n.*220+6284T>G)
c.900T>G (p.Asn300Lys)
c.927T>G (p.Asn309Lys)
c.1782T>G (p.Asn594Lys)
c.1596T>G (p.Asn532Lys)
c.1515T>G (p.Asn505Lys)
c.1221T>G (p.Asn407Lys)
c.1602T>G (p.Asn534Lys)
2g.48687940A>GCA426125488GTF2A1L,LHCGR,STON1-GTF2A1Lc.1857T>C (p.Asn619=)
c.*169T>C (n.*169T>C)
c.3441+16260A>G (n.3441+16260A>G)
c.*601T>C (n.*601T>C)
c.1776T>C (p.Asn592=)
c.276+16260A>G (n.276+16260A>G)
c.*220+6284T>C (n.*220+6284T>C)
c.900T>C (p.Asn300=)
c.927T>C (p.Asn309=)
c.1782T>C (p.Asn594=)
c.1596T>C (p.Asn532=)
c.1515T>C (p.Asn505=)
c.1221T>C (p.Asn407=)
c.1602T>C (p.Asn534=)
 dbSNP gnomAD v4
2g.48687940A>TCA346744162GTF2A1L,LHCGR,STON1-GTF2A1Lc.1857T>A (p.Asn619Lys)
c.*169T>A (n.*169T>A)
c.3441+16260A>T (n.3441+16260A>T)
c.*601T>A (n.*601T>A)
c.1776T>A (p.Asn592Lys)
c.276+16260A>T (n.276+16260A>T)
c.*220+6284T>A (n.*220+6284T>A)
c.900T>A (p.Asn300Lys)
c.927T>A (p.Asn309Lys)
c.1782T>A (p.Asn594Lys)
c.1596T>A (p.Asn532Lys)
c.1515T>A (p.Asn505Lys)
c.1221T>A (p.Asn407Lys)
c.1602T>A (p.Asn534Lys)
 gnomAD v4
2g.48687941T>ACA346744163GTF2A1L,LHCGR,STON1-GTF2A1Lc.1856A>T (p.Asn619Ile)
c.*168A>T (n.*168A>T)
c.3441+16261T>A (n.3441+16261T>A)
c.*600A>T (n.*600A>T)
c.1775A>T (p.Asn592Ile)
c.276+16261T>A (n.276+16261T>A)
c.*220+6283A>T (n.*220+6283A>T)
c.899A>T (p.Asn300Ile)
c.926A>T (p.Asn309Ile)
c.1781A>T (p.Asn594Ile)
c.1595A>T (p.Asn532Ile)
c.1514A>T (p.Asn505Ile)
c.1220A>T (p.Asn407Ile)
c.1601A>T (p.Asn534Ile)
2g.48687941T>CCA346744164GTF2A1L,LHCGR,STON1-GTF2A1Lc.1856A>G (p.Asn619Ser)
c.*168A>G (n.*168A>G)
c.3441+16261T>C (n.3441+16261T>C)
c.*600A>G (n.*600A>G)
c.1775A>G (p.Asn592Ser)
c.276+16261T>C (n.276+16261T>C)
c.*220+6283A>G (n.*220+6283A>G)
c.899A>G (p.Asn300Ser)
c.926A>G (p.Asn309Ser)
c.1781A>G (p.Asn594Ser)
c.1595A>G (p.Asn532Ser)
c.1514A>G (p.Asn505Ser)
c.1220A>G (p.Asn407Ser)
c.1601A>G (p.Asn534Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.48687941T>GCA346744167GTF2A1L,LHCGR,STON1-GTF2A1Lc.1856A>C (p.Asn619Thr)
c.*168A>C (n.*168A>C)
c.3441+16261T>G (n.3441+16261T>G)
c.*600A>C (n.*600A>C)
c.1775A>C (p.Asn592Thr)
c.276+16261T>G (n.276+16261T>G)
c.*220+6283A>C (n.*220+6283A>C)
c.899A>C (p.Asn300Thr)
c.926A>C (p.Asn309Thr)
c.1781A>C (p.Asn594Thr)
c.1595A>C (p.Asn532Thr)
c.1514A>C (p.Asn505Thr)
c.1220A>C (p.Asn407Thr)
c.1601A>C (p.Asn534Thr)
2g.48687941T=CA1248600913GTF2A1L,LHCGR,STON1-GTF2A1Lc.1856A= (p.Asn619=)
c.*168A= (n.*168A=)
c.3441+16261T= (n.3441+16261T=)
c.*600A= (n.*600A=)
c.1775A= (p.Asn592=)
c.276+16261T= (n.276+16261T=)
c.*220+6283A= (n.*220+6283A=)
c.899A= (p.Asn300=)
c.926A= (p.Asn309=)
c.1781A= (p.Asn594=)
c.1595A= (p.Asn532=)
c.1514A= (p.Asn505=)
c.1220A= (p.Asn407=)
c.1601A= (p.Asn534=)
2g.48687942T>ACA346744169GTF2A1L,LHCGR,STON1-GTF2A1Lc.1855A>T (p.Asn619Tyr)
c.*167A>T (n.*167A>T)
c.3441+16262T>A (n.3441+16262T>A)
c.*599A>T (n.*599A>T)
c.1774A>T (p.Asn592Tyr)
c.276+16262T>A (n.276+16262T>A)
c.*220+6282A>T (n.*220+6282A>T)
c.898A>T (p.Asn300Tyr)
c.925A>T (p.Asn309Tyr)
c.1780A>T (p.Asn594Tyr)
c.1594A>T (p.Asn532Tyr)
c.1513A>T (p.Asn505Tyr)
c.1219A>T (p.Asn407Tyr)
c.1600A>T (p.Asn534Tyr)
2g.48687942T>CCA346744171GTF2A1L,LHCGR,STON1-GTF2A1Lc.1855A>G (p.Asn619Asp)
c.*167A>G (n.*167A>G)
c.3441+16262T>C (n.3441+16262T>C)
c.*599A>G (n.*599A>G)
c.1774A>G (p.Asn592Asp)
c.276+16262T>C (n.276+16262T>C)
c.*220+6282A>G (n.*220+6282A>G)
c.898A>G (p.Asn300Asp)
c.925A>G (p.Asn309Asp)
c.1780A>G (p.Asn594Asp)
c.1594A>G (p.Asn532Asp)
c.1513A>G (p.Asn505Asp)
c.1219A>G (p.Asn407Asp)
c.1600A>G (p.Asn534Asp)
2g.48687942T>GCA346744170GTF2A1L,LHCGR,STON1-GTF2A1Lc.1855A>C (p.Asn619His)
c.*167A>C (n.*167A>C)
c.3441+16262T>G (n.3441+16262T>G)
c.*599A>C (n.*599A>C)
c.1774A>C (p.Asn592His)
c.276+16262T>G (n.276+16262T>G)
c.*220+6282A>C (n.*220+6282A>C)
c.898A>C (p.Asn300His)
c.925A>C (p.Asn309His)
c.1780A>C (p.Asn594His)
c.1594A>C (p.Asn532His)
c.1513A>C (p.Asn505His)
c.1219A>C (p.Asn407His)
c.1600A>C (p.Asn534His)
2g.48687943G>ACA426125498GTF2A1L,LHCGR,STON1-GTF2A1Lc.1854C>T (p.Ala618=)
c.*166C>T (n.*166C>T)
c.3441+16263G>A (n.3441+16263G>A)
c.*598C>T (n.*598C>T)
c.1773C>T (p.Ala591=)
c.276+16263G>A (n.276+16263G>A)
c.*220+6281C>T (n.*220+6281C>T)
c.897C>T (p.Ala299=)
c.924C>T (p.Ala308=)
c.1779C>T (p.Ala593=)
c.1593C>T (p.Ala531=)
c.1512C>T (p.Ala504=)
c.1218C>T (p.Ala406=)
c.1599C>T (p.Ala533=)
2g.48687943G>CCA426125500GTF2A1L,LHCGR,STON1-GTF2A1Lc.1854C>G (p.Ala618=)
c.*166C>G (n.*166C>G)
c.3441+16263G>C (n.3441+16263G>C)
c.*598C>G (n.*598C>G)
c.1773C>G (p.Ala591=)
c.276+16263G>C (n.276+16263G>C)
c.*220+6281C>G (n.*220+6281C>G)
c.897C>G (p.Ala299=)
c.924C>G (p.Ala308=)
c.1779C>G (p.Ala593=)
c.1593C>G (p.Ala531=)
c.1512C>G (p.Ala504=)
c.1218C>G (p.Ala406=)
c.1599C>G (p.Ala533=)
2g.48687943G>TCA426125502GTF2A1L,LHCGR,STON1-GTF2A1Lc.1854C>A (p.Ala618=)
c.*166C>A (n.*166C>A)
c.3441+16263G>T (n.3441+16263G>T)
c.*598C>A (n.*598C>A)
c.1773C>A (p.Ala591=)
c.276+16263G>T (n.276+16263G>T)
c.*220+6281C>A (n.*220+6281C>A)
c.897C>A (p.Ala299=)
c.924C>A (p.Ala308=)
c.1779C>A (p.Ala593=)
c.1593C>A (p.Ala531=)
c.1512C>A (p.Ala504=)
c.1218C>A (p.Ala406=)
c.1599C>A (p.Ala533=)
 gnomAD v4
2g.48687944G>ACA346744172GTF2A1L,LHCGR,STON1-GTF2A1Lc.1853C>T (p.Ala618Val)
c.*165C>T (n.*165C>T)
c.3441+16264G>A (n.3441+16264G>A)
c.*597C>T (n.*597C>T)
c.1772C>T (p.Ala591Val)
c.276+16264G>A (n.276+16264G>A)
c.*220+6280C>T (n.*220+6280C>T)
c.896C>T (p.Ala299Val)
c.923C>T (p.Ala308Val)
c.1778C>T (p.Ala593Val)
c.1592C>T (p.Ala531Val)
c.1511C>T (p.Ala504Val)
c.1217C>T (p.Ala406Val)
c.1598C>T (p.Ala533Val)
 gnomAD v4
2g.48687944G>CCA346744177GTF2A1L,LHCGR,STON1-GTF2A1Lc.1853C>G (p.Ala618Gly)
c.*165C>G (n.*165C>G)
c.3441+16264G>C (n.3441+16264G>C)
c.*597C>G (n.*597C>G)
c.1772C>G (p.Ala591Gly)
c.276+16264G>C (n.276+16264G>C)
c.*220+6280C>G (n.*220+6280C>G)
c.896C>G (p.Ala299Gly)
c.923C>G (p.Ala308Gly)
c.1778C>G (p.Ala593Gly)
c.1592C>G (p.Ala531Gly)
c.1511C>G (p.Ala504Gly)
c.1217C>G (p.Ala406Gly)
c.1598C>G (p.Ala533Gly)
2g.48687944G>TCA346744176GTF2A1L,LHCGR,STON1-GTF2A1Lc.1853C>A (p.Ala618Asp)
c.*165C>A (n.*165C>A)
c.3441+16264G>T (n.3441+16264G>T)
c.*597C>A (n.*597C>A)
c.1772C>A (p.Ala591Asp)
c.276+16264G>T (n.276+16264G>T)
c.*220+6280C>A (n.*220+6280C>A)
c.896C>A (p.Ala299Asp)
c.923C>A (p.Ala308Asp)
c.1778C>A (p.Ala593Asp)
c.1592C>A (p.Ala531Asp)
c.1511C>A (p.Ala504Asp)
c.1217C>A (p.Ala406Asp)
c.1598C>A (p.Ala533Asp)
2g.48687945C>ACA346744180GTF2A1L,LHCGR,STON1-GTF2A1Lc.1852G>T (p.Ala618Ser)
c.*164G>T (n.*164G>T)
c.3441+16265C>A (n.3441+16265C>A)
c.*596G>T (n.*596G>T)
c.1771G>T (p.Ala591Ser)
c.276+16265C>A (n.276+16265C>A)
c.*220+6279G>T (n.*220+6279G>T)
c.895G>T (p.Ala299Ser)
c.922G>T (p.Ala308Ser)
c.1777G>T (p.Ala593Ser)
c.1591G>T (p.Ala531Ser)
c.1510G>T (p.Ala504Ser)
c.1216G>T (p.Ala406Ser)
c.1597G>T (p.Ala533Ser)
 dbSNP
2g.48687945C=CA1248600914GTF2A1L,LHCGR,STON1-GTF2A1Lc.1852G= (p.Ala618=)
c.*164G= (n.*164G=)
c.3441+16265C= (n.3441+16265C=)
c.*596G= (n.*596G=)
c.1771G= (p.Ala591=)
c.276+16265C= (n.276+16265C=)
c.*220+6279G= (n.*220+6279G=)
c.895G= (p.Ala299=)
c.922G= (p.Ala308=)
c.1777G= (p.Ala593=)
c.1591G= (p.Ala531=)
c.1510G= (p.Ala504=)
c.1216G= (p.Ala406=)
c.1597G= (p.Ala533=)
2g.48687945C>GCA346744181GTF2A1L,LHCGR,STON1-GTF2A1Lc.1852G>C (p.Ala618Pro)
c.*164G>C (n.*164G>C)
c.3441+16265C>G (n.3441+16265C>G)
c.*596G>C (n.*596G>C)
c.1771G>C (p.Ala591Pro)
c.276+16265C>G (n.276+16265C>G)
c.*220+6279G>C (n.*220+6279G>C)
c.895G>C (p.Ala299Pro)
c.922G>C (p.Ala308Pro)
c.1777G>C (p.Ala593Pro)
c.1591G>C (p.Ala531Pro)
c.1510G>C (p.Ala504Pro)
c.1216G>C (p.Ala406Pro)
c.1597G>C (p.Ala533Pro)
2g.48687945C>TCA1652976GTF2A1L,LHCGR,STON1-GTF2A1Lc.1852G>A (p.Ala618Thr)
c.*164G>A (n.*164G>A)
c.3441+16265C>T (n.3441+16265C>T)
c.*596G>A (n.*596G>A)
c.1771G>A (p.Ala591Thr)
c.276+16265C>T (n.276+16265C>T)
c.*220+6279G>A (n.*220+6279G>A)
c.895G>A (p.Ala299Thr)
c.922G>A (p.Ala308Thr)
c.1777G>A (p.Ala593Thr)
c.1591G>A (p.Ala531Thr)
c.1510G>A (p.Ala504Thr)
c.1216G>A (p.Ala406Thr)
c.1597G>A (p.Ala533Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.48687946A>CCA346744184GTF2A1L,LHCGR,STON1-GTF2A1Lc.1851T>G (p.Cys617Trp)
c.*163T>G (n.*163T>G)
c.3441+16266A>C (n.3441+16266A>C)
c.*595T>G (n.*595T>G)
c.1770T>G (p.Cys590Trp)
c.276+16266A>C (n.276+16266A>C)
c.*220+6278T>G (n.*220+6278T>G)
c.894T>G (p.Cys298Trp)
c.921T>G (p.Cys307Trp)
c.1776T>G (p.Cys592Trp)
c.1590T>G (p.Cys530Trp)
c.1509T>G (p.Cys503Trp)
c.1215T>G (p.Cys405Trp)
c.1596T>G (p.Cys532Trp)
2g.48687946A>GCA426125511GTF2A1L,LHCGR,STON1-GTF2A1Lc.1851T>C (p.Cys617=)
c.*163T>C (n.*163T>C)
c.3441+16266A>G (n.3441+16266A>G)
c.*595T>C (n.*595T>C)
c.1770T>C (p.Cys590=)
c.276+16266A>G (n.276+16266A>G)
c.*220+6278T>C (n.*220+6278T>C)
c.894T>C (p.Cys298=)
c.921T>C (p.Cys307=)
c.1776T>C (p.Cys592=)
c.1590T>C (p.Cys530=)
c.1509T>C (p.Cys503=)
c.1215T>C (p.Cys405=)
c.1596T>C (p.Cys532=)
2g.48687946A>TCA346744186GTF2A1L,LHCGR,STON1-GTF2A1Lc.1851T>A (p.Cys617Ter)
c.*163T>A (n.*163T>A)
c.3441+16266A>T (n.3441+16266A>T)
c.*595T>A (n.*595T>A)
c.1770T>A (p.Cys590Ter)
c.276+16266A>T (n.276+16266A>T)
c.*220+6278T>A (n.*220+6278T>A)
c.894T>A (p.Cys298Ter)
c.921T>A (p.Cys307Ter)
c.1776T>A (p.Cys592Ter)
c.1590T>A (p.Cys530Ter)
c.1509T>A (p.Cys503Ter)
c.1215T>A (p.Cys405Ter)
c.1596T>A (p.Cys532Ter)
2g.48687947delCA2586969300GTF2A1L,LHCGR,STON1-GTF2A1Lc.1850del (p.Cys617LeufsTer22)
c.*162del (n.*162del)
c.3441+16267del (n.3441+16267del)
c.*594del (n.*594del)
c.1769del (p.Cys590LeufsTer22)
c.276+16267del (n.276+16267del)
c.*220+6277del (n.*220+6277del)
c.893del (p.Cys298LeufsTer22)
c.920del (p.Cys307LeufsTer22)
c.1775del (p.Cys592LeufsTer22)
c.1589del (p.Cys530LeufsTer22)
c.1508del (p.Cys503LeufsTer22)
c.1214del (p.Cys405LeufsTer22)
c.1595del (p.Cys532LeufsTer22)
2g.48687947C>ACA346744189GTF2A1L,LHCGR,STON1-GTF2A1Lc.1850G>T (p.Cys617Phe)
c.*162G>T (n.*162G>T)
c.3441+16267C>A (n.3441+16267C>A)
c.*594G>T (n.*594G>T)
c.1769G>T (p.Cys590Phe)
c.276+16267C>A (n.276+16267C>A)
c.*220+6277G>T (n.*220+6277G>T)
c.893G>T (p.Cys298Phe)
c.920G>T (p.Cys307Phe)
c.1775G>T (p.Cys592Phe)
c.1589G>T (p.Cys530Phe)
c.1508G>T (p.Cys503Phe)
c.1214G>T (p.Cys405Phe)
c.1595G>T (p.Cys532Phe)
2g.48687947C>GCA346744191GTF2A1L,LHCGR,STON1-GTF2A1Lc.1850G>C (p.Cys617Ser)
c.*162G>C (n.*162G>C)
c.3441+16267C>G (n.3441+16267C>G)
c.*594G>C (n.*594G>C)
c.1769G>C (p.Cys590Ser)
c.276+16267C>G (n.276+16267C>G)
c.*220+6277G>C (n.*220+6277G>C)
c.893G>C (p.Cys298Ser)
c.920G>C (p.Cys307Ser)
c.1775G>C (p.Cys592Ser)
c.1589G>C (p.Cys530Ser)
c.1508G>C (p.Cys503Ser)
c.1214G>C (p.Cys405Ser)
c.1595G>C (p.Cys532Ser)
 gnomAD v4
2g.48687947C>TCA346744192GTF2A1L,LHCGR,STON1-GTF2A1Lc.1850G>A (p.Cys617Tyr)
c.*162G>A (n.*162G>A)
c.3441+16267C>T (n.3441+16267C>T)
c.*594G>A (n.*594G>A)
c.1769G>A (p.Cys590Tyr)
c.276+16267C>T (n.276+16267C>T)
c.*220+6277G>A (n.*220+6277G>A)
c.893G>A (p.Cys298Tyr)
c.920G>A (p.Cys307Tyr)
c.1775G>A (p.Cys592Tyr)
c.1589G>A (p.Cys530Tyr)
c.1508G>A (p.Cys503Tyr)
c.1214G>A (p.Cys405Tyr)
c.1595G>A (p.Cys532Tyr)
2g.48687948A>CCA346744195GTF2A1L,LHCGR,STON1-GTF2A1Lc.1849T>G (p.Cys617Gly)
c.*161T>G (n.*161T>G)
c.3441+16268A>C (n.3441+16268A>C)
c.*593T>G (n.*593T>G)
c.1768T>G (p.Cys590Gly)
c.276+16268A>C (n.276+16268A>C)
c.*220+6276T>G (n.*220+6276T>G)
c.892T>G (p.Cys298Gly)
c.919T>G (p.Cys307Gly)
c.1774T>G (p.Cys592Gly)
c.1588T>G (p.Cys530Gly)
c.1507T>G (p.Cys503Gly)
c.1213T>G (p.Cys405Gly)
c.1594T>G (p.Cys532Gly)
2g.48687948A>GCA346744196GTF2A1L,LHCGR,STON1-GTF2A1Lc.1849T>C (p.Cys617Arg)
c.*161T>C (n.*161T>C)
c.3441+16268A>G (n.3441+16268A>G)
c.*593T>C (n.*593T>C)
c.1768T>C (p.Cys590Arg)
c.276+16268A>G (n.276+16268A>G)
c.*220+6276T>C (n.*220+6276T>C)
c.892T>C (p.Cys298Arg)
c.919T>C (p.Cys307Arg)
c.1774T>C (p.Cys592Arg)
c.1588T>C (p.Cys530Arg)
c.1507T>C (p.Cys503Arg)
c.1213T>C (p.Cys405Arg)
c.1594T>C (p.Cys532Arg)
2g.48687948A>TCA346744197GTF2A1L,LHCGR,STON1-GTF2A1Lc.1849T>A (p.Cys617Ser)
c.*161T>A (n.*161T>A)
c.3441+16268A>T (n.3441+16268A>T)
c.*593T>A (n.*593T>A)
c.1768T>A (p.Cys590Ser)
c.276+16268A>T (n.276+16268A>T)
c.*220+6276T>A (n.*220+6276T>A)
c.892T>A (p.Cys298Ser)
c.919T>A (p.Cys307Ser)
c.1774T>A (p.Cys592Ser)
c.1588T>A (p.Cys530Ser)
c.1507T>A (p.Cys503Ser)
c.1213T>A (p.Cys405Ser)
c.1594T>A (p.Cys532Ser)
2g.48687949A>CCA426125524GTF2A1L,LHCGR,STON1-GTF2A1Lc.1848T>G (p.Ser616=)
c.*160T>G (n.*160T>G)
c.3441+16269A>C (n.3441+16269A>C)
c.*592T>G (n.*592T>G)
c.1767T>G (p.Ser589=)
c.276+16269A>C (n.276+16269A>C)
c.*220+6275T>G (n.*220+6275T>G)
c.891T>G (p.Ser297=)
c.918T>G (p.Ser306=)
c.1773T>G (p.Ser591=)
c.1587T>G (p.Ser529=)
c.1506T>G (p.Ser502=)
c.1212T>G (p.Ser404=)
c.1593T>G (p.Ser531=)
2g.48687949A>GCA426125518GTF2A1L,LHCGR,STON1-GTF2A1Lc.1848T>C (p.Ser616=)
c.*160T>C (n.*160T>C)
c.3441+16269A>G (n.3441+16269A>G)
c.*592T>C (n.*592T>C)
c.1767T>C (p.Ser589=)
c.276+16269A>G (n.276+16269A>G)
c.*220+6275T>C (n.*220+6275T>C)
c.891T>C (p.Ser297=)
c.918T>C (p.Ser306=)
c.1773T>C (p.Ser591=)
c.1587T>C (p.Ser529=)
c.1506T>C (p.Ser502=)
c.1212T>C (p.Ser404=)
c.1593T>C (p.Ser531=)
 gnomAD v4
2g.48687949A>TCA426125517GTF2A1L,LHCGR,STON1-GTF2A1Lc.1848T>A (p.Ser616=)
c.*160T>A (n.*160T>A)
c.3441+16269A>T (n.3441+16269A>T)
c.*592T>A (n.*592T>A)
c.1767T>A (p.Ser589=)
c.276+16269A>T (n.276+16269A>T)
c.*220+6275T>A (n.*220+6275T>A)
c.891T>A (p.Ser297=)
c.918T>A (p.Ser306=)
c.1773T>A (p.Ser591=)
c.1587T>A (p.Ser529=)
c.1506T>A (p.Ser502=)
c.1212T>A (p.Ser404=)
c.1593T>A (p.Ser531=)
2g.48687950G>ACA346744203GTF2A1L,LHCGR,STON1-GTF2A1Lc.1847C>T (p.Ser616Phe)
c.*159C>T (n.*159C>T)
c.3441+16270G>A (n.3441+16270G>A)
c.*591C>T (n.*591C>T)
c.1766C>T (p.Ser589Phe)
c.276+16270G>A (n.276+16270G>A)
c.*220+6274C>T (n.*220+6274C>T)
c.890C>T (p.Ser297Phe)
c.917C>T (p.Ser306Phe)
c.1772C>T (p.Ser591Phe)
c.1586C>T (p.Ser529Phe)
c.1505C>T (p.Ser502Phe)
c.1211C>T (p.Ser404Phe)
c.1592C>T (p.Ser531Phe)
 COSMIC
2g.48687950G>CCA346744199GTF2A1L,LHCGR,STON1-GTF2A1Lc.1847C>G (p.Ser616Cys)
c.*159C>G (n.*159C>G)
c.3441+16270G>C (n.3441+16270G>C)
c.*591C>G (n.*591C>G)
c.1766C>G (p.Ser589Cys)
c.276+16270G>C (n.276+16270G>C)
c.*220+6274C>G (n.*220+6274C>G)
c.890C>G (p.Ser297Cys)
c.917C>G (p.Ser306Cys)
c.1772C>G (p.Ser591Cys)
c.1586C>G (p.Ser529Cys)
c.1505C>G (p.Ser502Cys)
c.1211C>G (p.Ser404Cys)
c.1592C>G (p.Ser531Cys)
2g.48687950G=CA1248600915GTF2A1L,LHCGR,STON1-GTF2A1Lc.1847C= (p.Ser616=)
c.*159C= (n.*159C=)
c.3441+16270G= (n.3441+16270G=)
c.*591C= (n.*591C=)
c.1766C= (p.Ser589=)
c.276+16270G= (n.276+16270G=)
c.*220+6274C= (n.*220+6274C=)
c.890C= (p.Ser297=)
c.917C= (p.Ser306=)
c.1772C= (p.Ser591=)
c.1586C= (p.Ser529=)
c.1505C= (p.Ser502=)
c.1211C= (p.Ser404=)
c.1592C= (p.Ser531=)
2g.48687950G>TCA123923GTF2A1L,LHCGR,STON1-GTF2A1Lc.1847C>A (p.Ser616Tyr)
c.*159C>A (n.*159C>A)
c.3441+16270G>T (n.3441+16270G>T)
c.*591C>A (n.*591C>A)
c.1766C>A (p.Ser589Tyr)
c.276+16270G>T (n.276+16270G>T)
c.*220+6274C>A (n.*220+6274C>A)
c.890C>A (p.Ser297Tyr)
c.917C>A (p.Ser306Tyr)
c.1772C>A (p.Ser591Tyr)
c.1586C>A (p.Ser529Tyr)
c.1505C>A (p.Ser502Tyr)
c.1211C>A (p.Ser404Tyr)
c.1592C>A (p.Ser531Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48687951A=CA1248600916GTF2A1L,LHCGR,STON1-GTF2A1Lc.1846T= (p.Ser616=)
c.*158T= (n.*158T=)
c.3441+16271A= (n.3441+16271A=)
c.*590T= (n.*590T=)
c.1765T= (p.Ser589=)
c.276+16271A= (n.276+16271A=)
c.*220+6273T= (n.*220+6273T=)
c.889T= (p.Ser297=)
c.916T= (p.Ser306=)
c.1771T= (p.Ser591=)
c.1585T= (p.Ser529=)
c.1504T= (p.Ser502=)
c.1210T= (p.Ser404=)
c.1591T= (p.Ser531=)
2g.48687951A>CCA346744206GTF2A1L,LHCGR,STON1-GTF2A1Lc.1846T>G (p.Ser616Ala)
c.*158T>G (n.*158T>G)
c.3441+16271A>C (n.3441+16271A>C)
c.*590T>G (n.*590T>G)
c.1765T>G (p.Ser589Ala)
c.276+16271A>C (n.276+16271A>C)
c.*220+6273T>G (n.*220+6273T>G)
c.889T>G (p.Ser297Ala)
c.916T>G (p.Ser306Ala)
c.1771T>G (p.Ser591Ala)
c.1585T>G (p.Ser529Ala)
c.1504T>G (p.Ser502Ala)
c.1210T>G (p.Ser404Ala)
c.1591T>G (p.Ser531Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.48687951A>GCA346744208GTF2A1L,LHCGR,STON1-GTF2A1Lc.1846T>C (p.Ser616Pro)
c.*158T>C (n.*158T>C)
c.3441+16271A>G (n.3441+16271A>G)
c.*590T>C (n.*590T>C)
c.1765T>C (p.Ser589Pro)
c.276+16271A>G (n.276+16271A>G)
c.*220+6273T>C (n.*220+6273T>C)
c.889T>C (p.Ser297Pro)
c.916T>C (p.Ser306Pro)
c.1771T>C (p.Ser591Pro)
c.1585T>C (p.Ser529Pro)
c.1504T>C (p.Ser502Pro)
c.1210T>C (p.Ser404Pro)
c.1591T>C (p.Ser531Pro)
 gnomAD v4
2g.48687951A>TCA346744209GTF2A1L,LHCGR,STON1-GTF2A1Lc.1846T>A (p.Ser616Thr)
c.*158T>A (n.*158T>A)
c.3441+16271A>T (n.3441+16271A>T)
c.*590T>A (n.*590T>A)
c.1765T>A (p.Ser589Thr)
c.276+16271A>T (n.276+16271A>T)
c.*220+6273T>A (n.*220+6273T>A)
c.889T>A (p.Ser297Thr)
c.916T>A (p.Ser306Thr)
c.1771T>A (p.Ser591Thr)
c.1585T>A (p.Ser529Thr)
c.1504T>A (p.Ser502Thr)
c.1210T>A (p.Ser404Thr)
c.1591T>A (p.Ser531Thr)
2g.48687952A=CA1248600917GTF2A1L,LHCGR,STON1-GTF2A1Lc.1845T= (p.Asn615=)
c.*157T= (n.*157T=)
c.3441+16272A= (n.3441+16272A=)
c.*589T= (n.*589T=)
c.1764T= (p.Asn588=)
c.276+16272A= (n.276+16272A=)
c.*220+6272T= (n.*220+6272T=)
c.888T= (p.Asn296=)
c.915T= (p.Asn305=)
c.1770T= (p.Asn590=)
c.1584T= (p.Asn528=)
c.1503T= (p.Asn501=)
c.1209T= (p.Asn403=)
c.1590T= (p.Asn530=)
2g.48687952A>CCA346744210GTF2A1L,LHCGR,STON1-GTF2A1Lc.1845T>G (p.Asn615Lys)
c.*157T>G (n.*157T>G)
c.3441+16272A>C (n.3441+16272A>C)
c.*589T>G (n.*589T>G)
c.1764T>G (p.Asn588Lys)
c.276+16272A>C (n.276+16272A>C)
c.*220+6272T>G (n.*220+6272T>G)
c.888T>G (p.Asn296Lys)
c.915T>G (p.Asn305Lys)
c.1770T>G (p.Asn590Lys)
c.1584T>G (p.Asn528Lys)
c.1503T>G (p.Asn501Lys)
c.1209T>G (p.Asn403Lys)
c.1590T>G (p.Asn530Lys)
2g.48687952A>GCA1652977GTF2A1L,LHCGR,STON1-GTF2A1Lc.1845T>C (p.Asn615=)
c.*157T>C (n.*157T>C)
c.3441+16272A>G (n.3441+16272A>G)
c.*589T>C (n.*589T>C)
c.1764T>C (p.Asn588=)
c.276+16272A>G (n.276+16272A>G)
c.*220+6272T>C (n.*220+6272T>C)
c.888T>C (p.Asn296=)
c.915T>C (p.Asn305=)
c.1770T>C (p.Asn590=)
c.1584T>C (p.Asn528=)
c.1503T>C (p.Asn501=)
c.1209T>C (p.Asn403=)
c.1590T>C (p.Asn530=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48687952A>TCA346744217GTF2A1L,LHCGR,STON1-GTF2A1Lc.1845T>A (p.Asn615Lys)
c.*157T>A (n.*157T>A)
c.3441+16272A>T (n.3441+16272A>T)
c.*589T>A (n.*589T>A)
c.1764T>A (p.Asn588Lys)
c.276+16272A>T (n.276+16272A>T)
c.*220+6272T>A (n.*220+6272T>A)
c.888T>A (p.Asn296Lys)
c.915T>A (p.Asn305Lys)
c.1770T>A (p.Asn590Lys)
c.1584T>A (p.Asn528Lys)
c.1503T>A (p.Asn501Lys)
c.1209T>A (p.Asn403Lys)
c.1590T>A (p.Asn530Lys)
 COSMIC
2g.48687952_48687953dupCA532706162GTF2A1L,LHCGR,STON1-GTF2A1Lc.1844_1845dup (p.Ser616IlefsTer24)
c.*156_*157dup (n.*156_*157dup)
c.3441+16272_3441+16273dup (n.3441+16272_3441+16273dup)
c.*588_*589dup (n.*588_*589dup)
c.1763_1764dup (p.Ser589IlefsTer24)
c.276+16272_276+16273dup (n.276+16272_276+16273dup)
c.*220+6271_*220+6272dup (n.*220+6271_*220+6272dup)
c.887_888dup (p.Ser297IlefsTer24)
c.914_915dup (p.Ser306IlefsTer24)
c.1769_1770dup (p.Ser591IlefsTer24)
c.1583_1584dup (p.Ser529IlefsTer24)
c.1502_1503dup (p.Ser502IlefsTer24)
c.1208_1209dup (p.Ser404IlefsTer24)
c.1589_1590dup (p.Ser531IlefsTer24)
 gnomAD v2 gnomAD v4
2g.48687953T>ACA346744229GTF2A1L,LHCGR,STON1-GTF2A1Lc.1844A>T (p.Asn615Ile)
c.*156A>T (n.*156A>T)
c.3441+16273T>A (n.3441+16273T>A)
c.*588A>T (n.*588A>T)
c.1763A>T (p.Asn588Ile)
c.276+16273T>A (n.276+16273T>A)
c.*220+6271A>T (n.*220+6271A>T)
c.887A>T (p.Asn296Ile)
c.914A>T (p.Asn305Ile)
c.1769A>T (p.Asn590Ile)
c.1583A>T (p.Asn528Ile)
c.1502A>T (p.Asn501Ile)
c.1208A>T (p.Asn403Ile)
c.1589A>T (p.Asn530Ile)
2g.48687953T>CCA346744233GTF2A1L,LHCGR,STON1-GTF2A1Lc.1844A>G (p.Asn615Ser)
c.*156A>G (n.*156A>G)
c.3441+16273T>C (n.3441+16273T>C)
c.*588A>G (n.*588A>G)
c.1763A>G (p.Asn588Ser)
c.276+16273T>C (n.276+16273T>C)
c.*220+6271A>G (n.*220+6271A>G)
c.887A>G (p.Asn296Ser)
c.914A>G (p.Asn305Ser)
c.1769A>G (p.Asn590Ser)
c.1583A>G (p.Asn528Ser)
c.1502A>G (p.Asn501Ser)
c.1208A>G (p.Asn403Ser)
c.1589A>G (p.Asn530Ser)
2g.48687953T>GCA346744235GTF2A1L,LHCGR,STON1-GTF2A1Lc.1844A>C (p.Asn615Thr)
c.*156A>C (n.*156A>C)
c.3441+16273T>G (n.3441+16273T>G)
c.*588A>C (n.*588A>C)
c.1763A>C (p.Asn588Thr)
c.276+16273T>G (n.276+16273T>G)
c.*220+6271A>C (n.*220+6271A>C)
c.887A>C (p.Asn296Thr)
c.914A>C (p.Asn305Thr)
c.1769A>C (p.Asn590Thr)
c.1583A>C (p.Asn528Thr)
c.1502A>C (p.Asn501Thr)
c.1208A>C (p.Asn403Thr)
c.1589A>C (p.Asn530Thr)
 gnomAD v4
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)
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
2g.48687972C>TCA346744329GTF2A1L,LHCGR,STON1-GTF2A1Lc.1825G>A (p.Val609Ile)
c.*137G>A (n.*137G>A)
c.3441+16292C>T (n.3441+16292C>T)
c.*569G>A (n.*569G>A)
c.1744G>A (p.Val582Ile)
c.276+16292C>T (n.276+16292C>T)
c.*220+6252G>A (n.*220+6252G>A)
c.868G>A (p.Val290Ile)
c.895G>A (p.Val299Ile)
c.1750G>A (p.Val584Ile)
c.1564G>A (p.Val522Ile)
c.1483G>A (p.Val495Ile)
c.1189G>A (p.Val397Ile)
c.1570G>A (p.Val524Ile)
 dbSNP
2g.48687973C>ACA426125631GTF2A1L,LHCGR,STON1-GTF2A1Lc.1824G>T (p.Leu608=)
c.*136G>T (n.*136G>T)
c.3441+16293C>A (n.3441+16293C>A)
c.*568G>T (n.*568G>T)
c.1743G>T (p.Leu581=)
c.276+16293C>A (n.276+16293C>A)
c.*220+6251G>T (n.*220+6251G>T)
c.867G>T (p.Leu289=)
c.894G>T (p.Leu298=)
c.1749G>T (p.Leu583=)
c.1563G>T (p.Leu521=)
c.1482G>T (p.Leu494=)
c.1188G>T (p.Leu396=)
c.1569G>T (p.Leu523=)
 dbSNP gnomAD v3 gnomAD v4
2g.48687973C=CA1248600927GTF2A1L,LHCGR,STON1-GTF2A1Lc.1824G= (p.Leu608=)
c.*136G= (n.*136G=)
c.3441+16293C= (n.3441+16293C=)
c.*568G= (n.*568G=)
c.1743G= (p.Leu581=)
c.276+16293C= (n.276+16293C=)
c.*220+6251G= (n.*220+6251G=)
c.867G= (p.Leu289=)
c.894G= (p.Leu298=)
c.1749G= (p.Leu583=)
c.1563G= (p.Leu521=)
c.1482G= (p.Leu494=)
c.1188G= (p.Leu396=)
c.1569G= (p.Leu523=)
2g.48687973C>GCA426125634GTF2A1L,LHCGR,STON1-GTF2A1Lc.1824G>C (p.Leu608=)
c.*136G>C (n.*136G>C)
c.3441+16293C>G (n.3441+16293C>G)
c.*568G>C (n.*568G>C)
c.1743G>C (p.Leu581=)
c.276+16293C>G (n.276+16293C>G)
c.*220+6251G>C (n.*220+6251G>C)
c.867G>C (p.Leu289=)
c.894G>C (p.Leu298=)
c.1749G>C (p.Leu583=)
c.1563G>C (p.Leu521=)
c.1482G>C (p.Leu494=)
c.1188G>C (p.Leu396=)
c.1569G>C (p.Leu523=)
 dbSNP gnomAD v2 gnomAD v4
2g.48687973C>TCA426125633GTF2A1L,LHCGR,STON1-GTF2A1Lc.1824G>A (p.Leu608=)
c.*136G>A (n.*136G>A)
c.3441+16293C>T (n.3441+16293C>T)
c.*568G>A (n.*568G>A)
c.1743G>A (p.Leu581=)
c.276+16293C>T (n.276+16293C>T)
c.*220+6251G>A (n.*220+6251G>A)
c.867G>A (p.Leu289=)
c.894G>A (p.Leu298=)
c.1749G>A (p.Leu583=)
c.1563G>A (p.Leu521=)
c.1482G>A (p.Leu494=)
c.1188G>A (p.Leu396=)
c.1569G>A (p.Leu523=)
2g.48687974A=CA1248600928GTF2A1L,LHCGR,STON1-GTF2A1Lc.1823T= (p.Leu608=)
c.*135T= (n.*135T=)
c.3441+16294A= (n.3441+16294A=)
c.*567T= (n.*567T=)
c.1742T= (p.Leu581=)
c.276+16294A= (n.276+16294A=)
c.*220+6250T= (n.*220+6250T=)
c.866T= (p.Leu289=)
c.893T= (p.Leu298=)
c.1748T= (p.Leu583=)
c.1562T= (p.Leu521=)
c.1481T= (p.Leu494=)
c.1187T= (p.Leu396=)
c.1568T= (p.Leu523=)
2g.48687974A>CCA346744334GTF2A1L,LHCGR,STON1-GTF2A1Lc.1823T>G (p.Leu608Arg)
c.*135T>G (n.*135T>G)
c.3441+16294A>C (n.3441+16294A>C)
c.*567T>G (n.*567T>G)
c.1742T>G (p.Leu581Arg)
c.276+16294A>C (n.276+16294A>C)
c.*220+6250T>G (n.*220+6250T>G)
c.866T>G (p.Leu289Arg)
c.893T>G (p.Leu298Arg)
c.1748T>G (p.Leu583Arg)
c.1562T>G (p.Leu521Arg)
c.1481T>G (p.Leu494Arg)
c.1187T>G (p.Leu396Arg)
c.1568T>G (p.Leu523Arg)
 dbSNP gnomAD v3 gnomAD v4
2g.48687974A>GCA346744336GTF2A1L,LHCGR,STON1-GTF2A1Lc.1823T>C (p.Leu608Pro)
c.*135T>C (n.*135T>C)
c.3441+16294A>G (n.3441+16294A>G)
c.*567T>C (n.*567T>C)
c.1742T>C (p.Leu581Pro)
c.276+16294A>G (n.276+16294A>G)
c.*220+6250T>C (n.*220+6250T>C)
c.866T>C (p.Leu289Pro)
c.893T>C (p.Leu298Pro)
c.1748T>C (p.Leu583Pro)
c.1562T>C (p.Leu521Pro)
c.1481T>C (p.Leu494Pro)
c.1187T>C (p.Leu396Pro)
c.1568T>C (p.Leu523Pro)
 dbSNP
2g.48687974A>TCA346744338GTF2A1L,LHCGR,STON1-GTF2A1Lc.1823T>A (p.Leu608Gln)
c.*135T>A (n.*135T>A)
c.3441+16294A>T (n.3441+16294A>T)
c.*567T>A (n.*567T>A)
c.1742T>A (p.Leu581Gln)
c.276+16294A>T (n.276+16294A>T)
c.*220+6250T>A (n.*220+6250T>A)
c.866T>A (p.Leu289Gln)
c.893T>A (p.Leu298Gln)
c.1748T>A (p.Leu583Gln)
c.1562T>A (p.Leu521Gln)
c.1481T>A (p.Leu494Gln)
c.1187T>A (p.Leu396Gln)
c.1568T>A (p.Leu523Gln)
2g.48687975G>ACA426125638GTF2A1L,LHCGR,STON1-GTF2A1Lc.1822C>T (p.Leu608=)
c.*134C>T (n.*134C>T)
c.3441+16295G>A (n.3441+16295G>A)
c.*566C>T (n.*566C>T)
c.1741C>T (p.Leu581=)
c.276+16295G>A (n.276+16295G>A)
c.*220+6249C>T (n.*220+6249C>T)
c.865C>T (p.Leu289=)
c.892C>T (p.Leu298=)
c.1747C>T (p.Leu583=)
c.1561C>T (p.Leu521=)
c.1480C>T (p.Leu494=)
c.1186C>T (p.Leu396=)
c.1567C>T (p.Leu523=)
 COSMIC
2g.48687975G>CCA346744340GTF2A1L,LHCGR,STON1-GTF2A1Lc.1822C>G (p.Leu608Val)
c.*134C>G (n.*134C>G)
c.3441+16295G>C (n.3441+16295G>C)
c.*566C>G (n.*566C>G)
c.1741C>G (p.Leu581Val)
c.276+16295G>C (n.276+16295G>C)
c.*220+6249C>G (n.*220+6249C>G)
c.865C>G (p.Leu289Val)
c.892C>G (p.Leu298Val)
c.1747C>G (p.Leu583Val)
c.1561C>G (p.Leu521Val)
c.1480C>G (p.Leu494Val)
c.1186C>G (p.Leu396Val)
c.1567C>G (p.Leu523Val)
2g.48687975G>TCA346744342GTF2A1L,LHCGR,STON1-GTF2A1Lc.1822C>A (p.Leu608Met)
c.*134C>A (n.*134C>A)
c.3441+16295G>T (n.3441+16295G>T)
c.*566C>A (n.*566C>A)
c.1741C>A (p.Leu581Met)
c.276+16295G>T (n.276+16295G>T)
c.*220+6249C>A (n.*220+6249C>A)
c.865C>A (p.Leu289Met)
c.892C>A (p.Leu298Met)
c.1747C>A (p.Leu583Met)
c.1561C>A (p.Leu521Met)
c.1480C>A (p.Leu494Met)
c.1186C>A (p.Leu396Met)
c.1567C>A (p.Leu523Met)
2g.48687976T>ACA346744344GTF2A1L,LHCGR,STON1-GTF2A1Lc.1821A>T (p.Leu607Phe)
c.*133A>T (n.*133A>T)
c.3441+16296T>A (n.3441+16296T>A)
c.*565A>T (n.*565A>T)
c.1740A>T (p.Leu580Phe)
c.276+16296T>A (n.276+16296T>A)
c.*220+6248A>T (n.*220+6248A>T)
c.864A>T (p.Leu288Phe)
c.891A>T (p.Leu297Phe)
c.1746A>T (p.Leu582Phe)
c.1560A>T (p.Leu520Phe)
c.1479A>T (p.Leu493Phe)
c.1185A>T (p.Leu395Phe)
c.1566A>T (p.Leu522Phe)
2g.48687976T>CCA1652982GTF2A1L,LHCGR,STON1-GTF2A1Lc.1821A>G (p.Leu607=)
c.*133A>G (n.*133A>G)
c.3441+16296T>C (n.3441+16296T>C)
c.*565A>G (n.*565A>G)
c.1740A>G (p.Leu580=)
c.276+16296T>C (n.276+16296T>C)
c.*220+6248A>G (n.*220+6248A>G)
c.864A>G (p.Leu288=)
c.891A>G (p.Leu297=)
c.1746A>G (p.Leu582=)
c.1560A>G (p.Leu520=)
c.1479A>G (p.Leu493=)
c.1185A>G (p.Leu395=)
c.1566A>G (p.Leu522=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48687976T>GCA346744350GTF2A1L,LHCGR,STON1-GTF2A1Lc.1821A>C (p.Leu607Phe)
c.*133A>C (n.*133A>C)
c.3441+16296T>G (n.3441+16296T>G)
c.*565A>C (n.*565A>C)
c.1740A>C (p.Leu580Phe)
c.276+16296T>G (n.276+16296T>G)
c.*220+6248A>C (n.*220+6248A>C)
c.864A>C (p.Leu288Phe)
c.891A>C (p.Leu297Phe)
c.1746A>C (p.Leu582Phe)
c.1560A>C (p.Leu520Phe)
c.1479A>C (p.Leu493Phe)
c.1185A>C (p.Leu395Phe)
c.1566A>C (p.Leu522Phe)
2g.48687976T=CA1248600929GTF2A1L,LHCGR,STON1-GTF2A1Lc.1821A= (p.Leu607=)
c.*133A= (n.*133A=)
c.3441+16296T= (n.3441+16296T=)
c.*565A= (n.*565A=)
c.1740A= (p.Leu580=)
c.276+16296T= (n.276+16296T=)
c.*220+6248A= (n.*220+6248A=)
c.864A= (p.Leu288=)
c.891A= (p.Leu297=)
c.1746A= (p.Leu582=)
c.1560A= (p.Leu520=)
c.1479A= (p.Leu493=)
c.1185A= (p.Leu395=)
c.1566A= (p.Leu522=)
2g.48687977A>CCA346744352GTF2A1L,LHCGR,STON1-GTF2A1Lc.1820T>G (p.Leu607Ter)
c.*132T>G (n.*132T>G)
c.3441+16297A>C (n.3441+16297A>C)
c.*564T>G (n.*564T>G)
c.1739T>G (p.Leu580Ter)
c.276+16297A>C (n.276+16297A>C)
c.*220+6247T>G (n.*220+6247T>G)
c.863T>G (p.Leu288Ter)
c.890T>G (p.Leu297Ter)
c.1745T>G (p.Leu582Ter)
c.1559T>G (p.Leu520Ter)
c.1478T>G (p.Leu493Ter)
c.1184T>G (p.Leu395Ter)
c.1565T>G (p.Leu522Ter)
2g.48687977A>GCA346744355GTF2A1L,LHCGR,STON1-GTF2A1Lc.1820T>C (p.Leu607Ser)
c.*132T>C (n.*132T>C)
c.3441+16297A>G (n.3441+16297A>G)
c.*564T>C (n.*564T>C)
c.1739T>C (p.Leu580Ser)
c.276+16297A>G (n.276+16297A>G)
c.*220+6247T>C (n.*220+6247T>C)
c.863T>C (p.Leu288Ser)
c.890T>C (p.Leu297Ser)
c.1745T>C (p.Leu582Ser)
c.1559T>C (p.Leu520Ser)
c.1478T>C (p.Leu493Ser)
c.1184T>C (p.Leu395Ser)
c.1565T>C (p.Leu522Ser)
2g.48687977A>TCA346744358GTF2A1L,LHCGR,STON1-GTF2A1Lc.1820T>A (p.Leu607Ter)
c.*132T>A (n.*132T>A)
c.3441+16297A>T (n.3441+16297A>T)
c.*564T>A (n.*564T>A)
c.1739T>A (p.Leu580Ter)
c.276+16297A>T (n.276+16297A>T)
c.*220+6247T>A (n.*220+6247T>A)
c.863T>A (p.Leu288Ter)
c.890T>A (p.Leu297Ter)
c.1745T>A (p.Leu582Ter)
c.1559T>A (p.Leu520Ter)
c.1478T>A (p.Leu493Ter)
c.1184T>A (p.Leu395Ter)
c.1565T>A (p.Leu522Ter)
2g.48687978A=CA1248600930GTF2A1L,LHCGR,STON1-GTF2A1Lc.1819T= (p.Leu607=)
c.*131T= (n.*131T=)
c.3441+16298A= (n.3441+16298A=)
c.*563T= (n.*563T=)
c.1738T= (p.Leu580=)
c.276+16298A= (n.276+16298A=)
c.*220+6246T= (n.*220+6246T=)
c.862T= (p.Leu288=)
c.889T= (p.Leu297=)
c.1744T= (p.Leu582=)
c.1558T= (p.Leu520=)
c.1477T= (p.Leu493=)
c.1183T= (p.Leu395=)
c.1564T= (p.Leu522=)
2g.48687978A>CCA1652983GTF2A1L,LHCGR,STON1-GTF2A1Lc.1819T>G (p.Leu607Val)
c.*131T>G (n.*131T>G)
c.3441+16298A>C (n.3441+16298A>C)
c.*563T>G (n.*563T>G)
c.1738T>G (p.Leu580Val)
c.276+16298A>C (n.276+16298A>C)
c.*220+6246T>G (n.*220+6246T>G)
c.862T>G (p.Leu288Val)
c.889T>G (p.Leu297Val)
c.1744T>G (p.Leu582Val)
c.1558T>G (p.Leu520Val)
c.1477T>G (p.Leu493Val)
c.1183T>G (p.Leu395Val)
c.1564T>G (p.Leu522Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.48687978A>GCA426125655GTF2A1L,LHCGR,STON1-GTF2A1Lc.1819T>C (p.Leu607=)
c.*131T>C (n.*131T>C)
c.3441+16298A>G (n.3441+16298A>G)
c.*563T>C (n.*563T>C)
c.1738T>C (p.Leu580=)
c.276+16298A>G (n.276+16298A>G)
c.*220+6246T>C (n.*220+6246T>C)
c.862T>C (p.Leu288=)
c.889T>C (p.Leu297=)
c.1744T>C (p.Leu582=)
c.1558T>C (p.Leu520=)
c.1477T>C (p.Leu493=)
c.1183T>C (p.Leu395=)
c.1564T>C (p.Leu522=)
2g.48687978A>TCA346744361GTF2A1L,LHCGR,STON1-GTF2A1Lc.1819T>A (p.Leu607Ile)
c.*131T>A (n.*131T>A)
c.3441+16298A>T (n.3441+16298A>T)
c.*563T>A (n.*563T>A)
c.1738T>A (p.Leu580Ile)
c.276+16298A>T (n.276+16298A>T)
c.*220+6246T>A (n.*220+6246T>A)
c.862T>A (p.Leu288Ile)
c.889T>A (p.Leu297Ile)
c.1744T>A (p.Leu582Ile)
c.1558T>A (p.Leu520Ile)
c.1477T>A (p.Leu493Ile)
c.1183T>A (p.Leu395Ile)
c.1564T>A (p.Leu522Ile)
2g.48687979A=CA1248600931GTF2A1L,LHCGR,STON1-GTF2A1Lc.1818T= (p.Val606=)
c.*130T= (n.*130T=)
c.3441+16299A= (n.3441+16299A=)
c.*562T= (n.*562T=)
c.1737T= (p.Val579=)
c.276+16299A= (n.276+16299A=)
c.*220+6245T= (n.*220+6245T=)
c.861T= (p.Val287=)
c.888T= (p.Val296=)
c.1743T= (p.Val581=)
c.1557T= (p.Val519=)
c.1476T= (p.Val492=)
c.1182T= (p.Val394=)
c.1563T= (p.Val521=)
2g.48687979A>CCA426125658GTF2A1L,LHCGR,STON1-GTF2A1Lc.1818T>G (p.Val606=)
c.*130T>G (n.*130T>G)
c.3441+16299A>C (n.3441+16299A>C)
c.*562T>G (n.*562T>G)
c.1737T>G (p.Val579=)
c.276+16299A>C (n.276+16299A>C)
c.*220+6245T>G (n.*220+6245T>G)
c.861T>G (p.Val287=)
c.888T>G (p.Val296=)
c.1743T>G (p.Val581=)
c.1557T>G (p.Val519=)
c.1476T>G (p.Val492=)
c.1182T>G (p.Val394=)
c.1563T>G (p.Val521=)
2g.48687979A>GCA426125659GTF2A1L,LHCGR,STON1-GTF2A1Lc.1818T>C (p.Val606=)
c.*130T>C (n.*130T>C)
c.3441+16299A>G (n.3441+16299A>G)
c.*562T>C (n.*562T>C)
c.1737T>C (p.Val579=)
c.276+16299A>G (n.276+16299A>G)
c.*220+6245T>C (n.*220+6245T>C)
c.861T>C (p.Val287=)
c.888T>C (p.Val296=)
c.1743T>C (p.Val581=)
c.1557T>C (p.Val519=)
c.1476T>C (p.Val492=)
c.1182T>C (p.Val394=)
c.1563T>C (p.Val521=)
 dbSNP gnomAD v4
2g.48687979A>TCA426125660GTF2A1L,LHCGR,STON1-GTF2A1Lc.1818T>A (p.Val606=)
c.*130T>A (n.*130T>A)
c.3441+16299A>T (n.3441+16299A>T)
c.*562T>A (n.*562T>A)
c.1737T>A (p.Val579=)
c.276+16299A>T (n.276+16299A>T)
c.*220+6245T>A (n.*220+6245T>A)
c.861T>A (p.Val287=)
c.888T>A (p.Val296=)
c.1743T>A (p.Val581=)
c.1557T>A (p.Val519=)
c.1476T>A (p.Val492=)
c.1182T>A (p.Val394=)
c.1563T>A (p.Val521=)
2g.48687980A=CA1248600932GTF2A1L,LHCGR,STON1-GTF2A1Lc.1817T= (p.Val606=)
c.*129T= (n.*129T=)
c.3441+16300A= (n.3441+16300A=)
c.*561T= (n.*561T=)
c.1736T= (p.Val579=)
c.276+16300A= (n.276+16300A=)
c.*220+6244T= (n.*220+6244T=)
c.860T= (p.Val287=)
c.887T= (p.Val296=)
c.1742T= (p.Val581=)
c.1556T= (p.Val519=)
c.1475T= (p.Val492=)
c.1181T= (p.Val394=)
c.1562T= (p.Val521=)
2g.48687980A>CCA346744365GTF2A1L,LHCGR,STON1-GTF2A1Lc.1817T>G (p.Val606Gly)
c.*129T>G (n.*129T>G)
c.3441+16300A>C (n.3441+16300A>C)
c.*561T>G (n.*561T>G)
c.1736T>G (p.Val579Gly)
c.276+16300A>C (n.276+16300A>C)
c.*220+6244T>G (n.*220+6244T>G)
c.860T>G (p.Val287Gly)
c.887T>G (p.Val296Gly)
c.1742T>G (p.Val581Gly)
c.1556T>G (p.Val519Gly)
c.1475T>G (p.Val492Gly)
c.1181T>G (p.Val394Gly)
c.1562T>G (p.Val521Gly)
2g.48687980A>GCA1652984GTF2A1L,LHCGR,STON1-GTF2A1Lc.1817T>C (p.Val606Ala)
c.*129T>C (n.*129T>C)
c.3441+16300A>G (n.3441+16300A>G)
c.*561T>C (n.*561T>C)
c.1736T>C (p.Val579Ala)
c.276+16300A>G (n.276+16300A>G)
c.*220+6244T>C (n.*220+6244T>C)
c.860T>C (p.Val287Ala)
c.887T>C (p.Val296Ala)
c.1742T>C (p.Val581Ala)
c.1556T>C (p.Val519Ala)
c.1475T>C (p.Val492Ala)
c.1181T>C (p.Val394Ala)
c.1562T>C (p.Val521Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48687980A>TCA346744370GTF2A1L,LHCGR,STON1-GTF2A1Lc.1817T>A (p.Val606Asp)
c.*129T>A (n.*129T>A)
c.3441+16300A>T (n.3441+16300A>T)
c.*561T>A (n.*561T>A)
c.1736T>A (p.Val579Asp)
c.276+16300A>T (n.276+16300A>T)
c.*220+6244T>A (n.*220+6244T>A)
c.860T>A (p.Val287Asp)
c.887T>A (p.Val296Asp)
c.1742T>A (p.Val581Asp)
c.1556T>A (p.Val519Asp)
c.1475T>A (p.Val492Asp)
c.1181T>A (p.Val394Asp)
c.1562T>A (p.Val521Asp)
2g.48687981C>ACA346744373GTF2A1L,LHCGR,STON1-GTF2A1Lc.1816G>T (p.Val606Phe)
c.*128G>T (n.*128G>T)
c.3441+16301C>A (n.3441+16301C>A)
c.*560G>T (n.*560G>T)
c.1735G>T (p.Val579Phe)
c.276+16301C>A (n.276+16301C>A)
c.*220+6243G>T (n.*220+6243G>T)
c.859G>T (p.Val287Phe)
c.886G>T (p.Val296Phe)
c.1741G>T (p.Val581Phe)
c.1555G>T (p.Val519Phe)
c.1474G>T (p.Val492Phe)
c.1180G>T (p.Val394Phe)
c.1561G>T (p.Val521Phe)
2g.48687981C=CA1248600933GTF2A1L,LHCGR,STON1-GTF2A1Lc.1816G= (p.Val606=)
c.*128G= (n.*128G=)
c.3441+16301C= (n.3441+16301C=)
c.*560G= (n.*560G=)
c.1735G= (p.Val579=)
c.276+16301C= (n.276+16301C=)
c.*220+6243G= (n.*220+6243G=)
c.859G= (p.Val287=)
c.886G= (p.Val296=)
c.1741G= (p.Val581=)
c.1555G= (p.Val519=)
c.1474G= (p.Val492=)
c.1180G= (p.Val394=)
c.1561G= (p.Val521=)
2g.48687981C>GCA346744375GTF2A1L,LHCGR,STON1-GTF2A1Lc.1816G>C (p.Val606Leu)
c.*128G>C (n.*128G>C)
c.3441+16301C>G (n.3441+16301C>G)
c.*560G>C (n.*560G>C)
c.1735G>C (p.Val579Leu)
c.276+16301C>G (n.276+16301C>G)
c.*220+6243G>C (n.*220+6243G>C)
c.859G>C (p.Val287Leu)
c.886G>C (p.Val296Leu)
c.1741G>C (p.Val581Leu)
c.1555G>C (p.Val519Leu)
c.1474G>C (p.Val492Leu)
c.1180G>C (p.Val394Leu)
c.1561G>C (p.Val521Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48687981C>TCA346744377GTF2A1L,LHCGR,STON1-GTF2A1Lc.1816G>A (p.Val606Ile)
c.*128G>A (n.*128G>A)
c.3441+16301C>T (n.3441+16301C>T)
c.*560G>A (n.*560G>A)
c.1735G>A (p.Val579Ile)
c.276+16301C>T (n.276+16301C>T)
c.*220+6243G>A (n.*220+6243G>A)
c.859G>A (p.Val287Ile)
c.886G>A (p.Val296Ile)
c.1741G>A (p.Val581Ile)
c.1555G>A (p.Val519Ile)
c.1474G>A (p.Val492Ile)
c.1180G>A (p.Val394Ile)
c.1561G>A (p.Val521Ile)
 dbSNP gnomAD v3 gnomAD v4
2g.48687982T>ACA346744379GTF2A1L,LHCGR,STON1-GTF2A1Lc.1815A>T (p.Lys605Asn)
c.*127A>T (n.*127A>T)
c.3441+16302T>A (n.3441+16302T>A)
c.*559A>T (n.*559A>T)
c.1734A>T (p.Lys578Asn)
c.276+16302T>A (n.276+16302T>A)
c.*220+6242A>T (n.*220+6242A>T)
c.858A>T (p.Lys286Asn)
c.885A>T (p.Lys295Asn)
c.1740A>T (p.Lys580Asn)
c.1554A>T (p.Lys518Asn)
c.1473A>T (p.Lys491Asn)
c.1179A>T (p.Lys393Asn)
c.1560A>T (p.Lys520Asn)
2g.48687982T>CCA426125667GTF2A1L,LHCGR,STON1-GTF2A1Lc.1815A>G (p.Lys605=)
c.*127A>G (n.*127A>G)
c.3441+16302T>C (n.3441+16302T>C)
c.*559A>G (n.*559A>G)
c.1734A>G (p.Lys578=)
c.276+16302T>C (n.276+16302T>C)
c.*220+6242A>G (n.*220+6242A>G)
c.858A>G (p.Lys286=)
c.885A>G (p.Lys295=)
c.1740A>G (p.Lys580=)
c.1554A>G (p.Lys518=)
c.1473A>G (p.Lys491=)
c.1179A>G (p.Lys393=)
c.1560A>G (p.Lys520=)
2g.48687982T>GCA346744382GTF2A1L,LHCGR,STON1-GTF2A1Lc.1815A>C (p.Lys605Asn)
c.*127A>C (n.*127A>C)
c.3441+16302T>G (n.3441+16302T>G)
c.*559A>C (n.*559A>C)
c.1734A>C (p.Lys578Asn)
c.276+16302T>G (n.276+16302T>G)
c.*220+6242A>C (n.*220+6242A>C)
c.858A>C (p.Lys286Asn)
c.885A>C (p.Lys295Asn)
c.1740A>C (p.Lys580Asn)
c.1554A>C (p.Lys518Asn)
c.1473A>C (p.Lys491Asn)
c.1179A>C (p.Lys393Asn)
c.1560A>C (p.Lys520Asn)
 COSMIC
2g.48687983T>ACA346744384GTF2A1L,LHCGR,STON1-GTF2A1Lc.1814A>T (p.Lys605Ile)
c.*126A>T (n.*126A>T)
c.3441+16303T>A (n.3441+16303T>A)
c.*558A>T (n.*558A>T)
c.1733A>T (p.Lys578Ile)
c.276+16303T>A (n.276+16303T>A)
c.*220+6241A>T (n.*220+6241A>T)
c.857A>T (p.Lys286Ile)
c.884A>T (p.Lys295Ile)
c.1739A>T (p.Lys580Ile)
c.1553A>T (p.Lys518Ile)
c.1472A>T (p.Lys491Ile)
c.1178A>T (p.Lys393Ile)
c.1559A>T (p.Lys520Ile)
2g.48687983T>CCA346744387GTF2A1L,LHCGR,STON1-GTF2A1Lc.1814A>G (p.Lys605Arg)
c.*126A>G (n.*126A>G)
c.3441+16303T>C (n.3441+16303T>C)
c.*558A>G (n.*558A>G)
c.1733A>G (p.Lys578Arg)
c.276+16303T>C (n.276+16303T>C)
c.*220+6241A>G (n.*220+6241A>G)
c.857A>G (p.Lys286Arg)
c.884A>G (p.Lys295Arg)
c.1739A>G (p.Lys580Arg)
c.1553A>G (p.Lys518Arg)
c.1472A>G (p.Lys491Arg)
c.1178A>G (p.Lys393Arg)
c.1559A>G (p.Lys520Arg)
2g.48687983T>GCA346744391GTF2A1L,LHCGR,STON1-GTF2A1Lc.1814A>C (p.Lys605Thr)
c.*126A>C (n.*126A>C)
c.3441+16303T>G (n.3441+16303T>G)
c.*558A>C (n.*558A>C)
c.1733A>C (p.Lys578Thr)
c.276+16303T>G (n.276+16303T>G)
c.*220+6241A>C (n.*220+6241A>C)
c.857A>C (p.Lys286Thr)
c.884A>C (p.Lys295Thr)
c.1739A>C (p.Lys580Thr)
c.1553A>C (p.Lys518Thr)
c.1472A>C (p.Lys491Thr)
c.1178A>C (p.Lys393Thr)
c.1559A>C (p.Lys520Thr)
2g.48687984T>ACA346744403GTF2A1L,LHCGR,STON1-GTF2A1Lc.1813A>T (p.Lys605Ter)
c.*125A>T (n.*125A>T)
c.3441+16304T>A (n.3441+16304T>A)
c.*557A>T (n.*557A>T)
c.1732A>T (p.Lys578Ter)
c.276+16304T>A (n.276+16304T>A)
c.*220+6240A>T (n.*220+6240A>T)
c.856A>T (p.Lys286Ter)
c.883A>T (p.Lys295Ter)
c.1738A>T (p.Lys580Ter)
c.1552A>T (p.Lys518Ter)
c.1471A>T (p.Lys491Ter)
c.1177A>T (p.Lys393Ter)
c.1558A>T (p.Lys520Ter)
 gnomAD v4
2g.48687984T>CCA346744401GTF2A1L,LHCGR,STON1-GTF2A1Lc.1813A>G (p.Lys605Glu)
c.*125A>G (n.*125A>G)
c.3441+16304T>C (n.3441+16304T>C)
c.*557A>G (n.*557A>G)
c.1732A>G (p.Lys578Glu)
c.276+16304T>C (n.276+16304T>C)
c.*220+6240A>G (n.*220+6240A>G)
c.856A>G (p.Lys286Glu)
c.883A>G (p.Lys295Glu)
c.1738A>G (p.Lys580Glu)
c.1552A>G (p.Lys518Glu)
c.1471A>G (p.Lys491Glu)
c.1177A>G (p.Lys393Glu)
c.1558A>G (p.Lys520Glu)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
2g.48687984T>GCA346744395GTF2A1L,LHCGR,STON1-GTF2A1Lc.1813A>C (p.Lys605Gln)
c.*125A>C (n.*125A>C)
c.3441+16304T>G (n.3441+16304T>G)
c.*557A>C (n.*557A>C)
c.1732A>C (p.Lys578Gln)
c.276+16304T>G (n.276+16304T>G)
c.*220+6240A>C (n.*220+6240A>C)
c.856A>C (p.Lys286Gln)
c.883A>C (p.Lys295Gln)
c.1738A>C (p.Lys580Gln)
c.1552A>C (p.Lys518Gln)
c.1471A>C (p.Lys491Gln)
c.1177A>C (p.Lys393Gln)
c.1558A>C (p.Lys520Gln)
2g.48687984T=CA1248600934GTF2A1L,LHCGR,STON1-GTF2A1Lc.1813A= (p.Lys605=)
c.*125A= (n.*125A=)
c.3441+16304T= (n.3441+16304T=)
c.*557A= (n.*557A=)
c.1732A= (p.Lys578=)
c.276+16304T= (n.276+16304T=)
c.*220+6240A= (n.*220+6240A=)
c.856A= (p.Lys286=)
c.883A= (p.Lys295=)
c.1738A= (p.Lys580=)
c.1552A= (p.Lys518=)
c.1471A= (p.Lys491=)
c.1177A= (p.Lys393=)
c.1558A= (p.Lys520=)
2g.48687985A>CCA426125680GTF2A1L,LHCGR,STON1-GTF2A1Lc.1812T>G (p.Ser604=)
c.*124T>G (n.*124T>G)
c.3441+16305A>C (n.3441+16305A>C)
c.*556T>G (n.*556T>G)
c.1731T>G (p.Ser577=)
c.276+16305A>C (n.276+16305A>C)
c.*220+6239T>G (n.*220+6239T>G)
c.855T>G (p.Ser285=)
c.882T>G (p.Ser294=)
c.1737T>G (p.Ser579=)
c.1551T>G (p.Ser517=)
c.1470T>G (p.Ser490=)
c.1176T>G (p.Ser392=)
c.1557T>G (p.Ser519=)
2g.48687985A>GCA426125681GTF2A1L,LHCGR,STON1-GTF2A1Lc.1812T>C (p.Ser604=)
c.*124T>C (n.*124T>C)
c.3441+16305A>G (n.3441+16305A>G)
c.*556T>C (n.*556T>C)
c.1731T>C (p.Ser577=)
c.276+16305A>G (n.276+16305A>G)
c.*220+6239T>C (n.*220+6239T>C)
c.855T>C (p.Ser285=)
c.882T>C (p.Ser294=)
c.1737T>C (p.Ser579=)
c.1551T>C (p.Ser517=)
c.1470T>C (p.Ser490=)
c.1176T>C (p.Ser392=)
c.1557T>C (p.Ser519=)
2g.48687985A>TCA426125682GTF2A1L,LHCGR,STON1-GTF2A1Lc.1812T>A (p.Ser604=)
c.*124T>A (n.*124T>A)
c.3441+16305A>T (n.3441+16305A>T)
c.*556T>A (n.*556T>A)
c.1731T>A (p.Ser577=)
c.276+16305A>T (n.276+16305A>T)
c.*220+6239T>A (n.*220+6239T>A)
c.855T>A (p.Ser285=)
c.882T>A (p.Ser294=)
c.1737T>A (p.Ser579=)
c.1551T>A (p.Ser517=)
c.1470T>A (p.Ser490=)
c.1176T>A (p.Ser392=)
c.1557T>A (p.Ser519=)
2g.48687986delCA2576963396GTF2A1L,LHCGR,STON1-GTF2A1Lc.1811del (p.Ser604LeufsTer?)
c.*123del (n.*123del)
c.3441+16306del (n.3441+16306del)
c.*555del (n.*555del)
c.1730del (p.Ser577LeufsTer?)
c.276+16306del (n.276+16306del)
c.*220+6238del (n.*220+6238del)
c.854del (p.Ser285LeufsTer?)
c.881del (p.Ser294LeufsTer?)
c.1736del (p.Ser579LeufsTer?)
c.1550del (p.Ser517LeufsTer?)
c.1469del (p.Ser490LeufsTer?)
c.1175del (p.Ser392LeufsTer?)
c.1556del (p.Ser519LeufsTer?)
2g.48687986G>ACA346744405GTF2A1L,LHCGR,STON1-GTF2A1Lc.1811C>T (p.Ser604Phe)
c.*123C>T (n.*123C>T)
c.3441+16306G>A (n.3441+16306G>A)
c.*555C>T (n.*555C>T)
c.1730C>T (p.Ser577Phe)
c.276+16306G>A (n.276+16306G>A)
c.*220+6238C>T (n.*220+6238C>T)
c.854C>T (p.Ser285Phe)
c.881C>T (p.Ser294Phe)
c.1736C>T (p.Ser579Phe)
c.1550C>T (p.Ser517Phe)
c.1469C>T (p.Ser490Phe)
c.1175C>T (p.Ser392Phe)
c.1556C>T (p.Ser519Phe)
 gnomAD v4 COSMIC
2g.48687986G>CCA346744407GTF2A1L,LHCGR,STON1-GTF2A1Lc.1811C>G (p.Ser604Cys)
c.*123C>G (n.*123C>G)
c.3441+16306G>C (n.3441+16306G>C)
c.*555C>G (n.*555C>G)
c.1730C>G (p.Ser577Cys)
c.276+16306G>C (n.276+16306G>C)
c.*220+6238C>G (n.*220+6238C>G)
c.854C>G (p.Ser285Cys)
c.881C>G (p.Ser294Cys)
c.1736C>G (p.Ser579Cys)
c.1550C>G (p.Ser517Cys)
c.1469C>G (p.Ser490Cys)
c.1175C>G (p.Ser392Cys)
c.1556C>G (p.Ser519Cys)
2g.48687986G>TCA346744409GTF2A1L,LHCGR,STON1-GTF2A1Lc.1811C>A (p.Ser604Tyr)
c.*123C>A (n.*123C>A)
c.3441+16306G>T (n.3441+16306G>T)
c.*555C>A (n.*555C>A)
c.1730C>A (p.Ser577Tyr)
c.276+16306G>T (n.276+16306G>T)
c.*220+6238C>A (n.*220+6238C>A)
c.854C>A (p.Ser285Tyr)
c.881C>A (p.Ser294Tyr)
c.1736C>A (p.Ser579Tyr)
c.1550C>A (p.Ser517Tyr)
c.1469C>A (p.Ser490Tyr)
c.1175C>A (p.Ser392Tyr)
c.1556C>A (p.Ser519Tyr)
2g.48687987A=CA1248600935GTF2A1L,LHCGR,STON1-GTF2A1Lc.1810T= (p.Ser604=)
c.*122T= (n.*122T=)
c.3441+16307A= (n.3441+16307A=)
c.*554T= (n.*554T=)
c.1729T= (p.Ser577=)
c.276+16307A= (n.276+16307A=)
c.*220+6237T= (n.*220+6237T=)
c.853T= (p.Ser285=)
c.880T= (p.Ser294=)
c.1735T= (p.Ser579=)
c.1549T= (p.Ser517=)
c.1468T= (p.Ser490=)
c.1174T= (p.Ser392=)
c.1555T= (p.Ser519=)
2g.48687987A>CCA46752716GTF2A1L,LHCGR,STON1-GTF2A1Lc.1810T>G (p.Ser604Ala)
c.*122T>G (n.*122T>G)
c.3441+16307A>C (n.3441+16307A>C)
c.*554T>G (n.*554T>G)
c.1729T>G (p.Ser577Ala)
c.276+16307A>C (n.276+16307A>C)
c.*220+6237T>G (n.*220+6237T>G)
c.853T>G (p.Ser285Ala)
c.880T>G (p.Ser294Ala)
c.1735T>G (p.Ser579Ala)
c.1549T>G (p.Ser517Ala)
c.1468T>G (p.Ser490Ala)
c.1174T>G (p.Ser392Ala)
c.1555T>G (p.Ser519Ala)
 dbSNP
2g.48687987A>GCA346744415GTF2A1L,LHCGR,STON1-GTF2A1Lc.1810T>C (p.Ser604Pro)
c.*122T>C (n.*122T>C)
c.3441+16307A>G (n.3441+16307A>G)
c.*554T>C (n.*554T>C)
c.1729T>C (p.Ser577Pro)
c.276+16307A>G (n.276+16307A>G)
c.*220+6237T>C (n.*220+6237T>C)
c.853T>C (p.Ser285Pro)
c.880T>C (p.Ser294Pro)
c.1735T>C (p.Ser579Pro)
c.1549T>C (p.Ser517Pro)
c.1468T>C (p.Ser490Pro)
c.1174T>C (p.Ser392Pro)
c.1555T>C (p.Ser519Pro)
2g.48687987A>TCA346744416GTF2A1L,LHCGR,STON1-GTF2A1Lc.1810T>A (p.Ser604Thr)
c.*122T>A (n.*122T>A)
c.3441+16307A>T (n.3441+16307A>T)
c.*554T>A (n.*554T>A)
c.1729T>A (p.Ser577Thr)
c.276+16307A>T (n.276+16307A>T)
c.*220+6237T>A (n.*220+6237T>A)
c.853T>A (p.Ser285Thr)
c.880T>A (p.Ser294Thr)
c.1735T>A (p.Ser579Thr)
c.1549T>A (p.Ser517Thr)
c.1468T>A (p.Ser490Thr)
c.1174T>A (p.Ser392Thr)
c.1555T>A (p.Ser519Thr)
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
2g.48688002T>GCA346744481GTF2A1L,LHCGR,STON1-GTF2A1Lc.1795A>C (p.Ile599Leu)
c.*107A>C (n.*107A>C)
c.3441+16322T>G (n.3441+16322T>G)
c.*539A>C (n.*539A>C)
c.1714A>C (p.Ile572Leu)
c.276+16322T>G (n.276+16322T>G)
c.*220+6222A>C (n.*220+6222A>C)
c.838A>C (p.Ile280Leu)
c.865A>C (p.Ile289Leu)
c.1720A>C (p.Ile574Leu)
c.1534A>C (p.Ile512Leu)
c.1453A>C (p.Ile485Leu)
c.1159A>C (p.Ile387Leu)
c.1540A>C (p.Ile514Leu)
2g.48688003A>CCA426124883GTF2A1L,LHCGR,STON1-GTF2A1Lc.1794T>G (p.Leu598=)
c.*106T>G (n.*106T>G)
c.3441+16323A>C (n.3441+16323A>C)
c.*538T>G (n.*538T>G)
c.1713T>G (p.Leu571=)
c.276+16323A>C (n.276+16323A>C)
c.*220+6221T>G (n.*220+6221T>G)
c.837T>G (p.Leu279=)
c.864T>G (p.Leu288=)
c.1719T>G (p.Leu573=)
c.1533T>G (p.Leu511=)
c.1452T>G (p.Leu484=)
c.1158T>G (p.Leu386=)
c.1539T>G (p.Leu513=)
2g.48688003A>GCA426124885GTF2A1L,LHCGR,STON1-GTF2A1Lc.1794T>C (p.Leu598=)
c.*106T>C (n.*106T>C)
c.3441+16323A>G (n.3441+16323A>G)
c.*538T>C (n.*538T>C)
c.1713T>C (p.Leu571=)
c.276+16323A>G (n.276+16323A>G)
c.*220+6221T>C (n.*220+6221T>C)
c.837T>C (p.Leu279=)
c.864T>C (p.Leu288=)
c.1719T>C (p.Leu573=)
c.1533T>C (p.Leu511=)
c.1452T>C (p.Leu484=)
c.1158T>C (p.Leu386=)
c.1539T>C (p.Leu513=)
2g.48688003A>TCA426124884GTF2A1L,LHCGR,STON1-GTF2A1Lc.1794T>A (p.Leu598=)
c.*106T>A (n.*106T>A)
c.3441+16323A>T (n.3441+16323A>T)
c.*538T>A (n.*538T>A)
c.1713T>A (p.Leu571=)
c.276+16323A>T (n.276+16323A>T)
c.*220+6221T>A (n.*220+6221T>A)
c.837T>A (p.Leu279=)
c.864T>A (p.Leu288=)
c.1719T>A (p.Leu573=)
c.1533T>A (p.Leu511=)
c.1452T>A (p.Leu484=)
c.1158T>A (p.Leu386=)
c.1539T>A (p.Leu513=)
2g.48688004A>CCA346744487GTF2A1L,LHCGR,STON1-GTF2A1Lc.1793T>G (p.Leu598Arg)
c.*105T>G (n.*105T>G)
c.3441+16324A>C (n.3441+16324A>C)
c.*537T>G (n.*537T>G)
c.1712T>G (p.Leu571Arg)
c.276+16324A>C (n.276+16324A>C)
c.*220+6220T>G (n.*220+6220T>G)
c.836T>G (p.Leu279Arg)
c.863T>G (p.Leu288Arg)
c.1718T>G (p.Leu573Arg)
c.1532T>G (p.Leu511Arg)
c.1451T>G (p.Leu484Arg)
c.1157T>G (p.Leu386Arg)
c.1538T>G (p.Leu513Arg)
2g.48688004A>GCA346744490GTF2A1L,LHCGR,STON1-GTF2A1Lc.1793T>C (p.Leu598Pro)
c.*105T>C (n.*105T>C)
c.3441+16324A>G (n.3441+16324A>G)
c.*537T>C (n.*537T>C)
c.1712T>C (p.Leu571Pro)
c.276+16324A>G (n.276+16324A>G)
c.*220+6220T>C (n.*220+6220T>C)
c.836T>C (p.Leu279Pro)
c.863T>C (p.Leu288Pro)
c.1718T>C (p.Leu573Pro)
c.1532T>C (p.Leu511Pro)
c.1451T>C (p.Leu484Pro)
c.1157T>C (p.Leu386Pro)
c.1538T>C (p.Leu513Pro)
2g.48688004A>TCA346744492GTF2A1L,LHCGR,STON1-GTF2A1Lc.1793T>A (p.Leu598His)
c.*105T>A (n.*105T>A)
c.3441+16324A>T (n.3441+16324A>T)
c.*537T>A (n.*537T>A)
c.1712T>A (p.Leu571His)
c.276+16324A>T (n.276+16324A>T)
c.*220+6220T>A (n.*220+6220T>A)
c.836T>A (p.Leu279His)
c.863T>A (p.Leu288His)
c.1718T>A (p.Leu573His)
c.1532T>A (p.Leu511His)
c.1451T>A (p.Leu484His)
c.1157T>A (p.Leu386His)
c.1538T>A (p.Leu513His)
2g.48688005G>ACA346744499GTF2A1L,LHCGR,STON1-GTF2A1Lc.1792C>T (p.Leu598Phe)
c.*104C>T (n.*104C>T)
c.3441+16325G>A (n.3441+16325G>A)
c.*536C>T (n.*536C>T)
c.1711C>T (p.Leu571Phe)
c.276+16325G>A (n.276+16325G>A)
c.*220+6219C>T (n.*220+6219C>T)
c.835C>T (p.Leu279Phe)
c.862C>T (p.Leu288Phe)
c.1717C>T (p.Leu573Phe)
c.1531C>T (p.Leu511Phe)
c.1450C>T (p.Leu484Phe)
c.1156C>T (p.Leu386Phe)
c.1537C>T (p.Leu513Phe)
2g.48688005G>CCA346744494GTF2A1L,LHCGR,STON1-GTF2A1Lc.1792C>G (p.Leu598Val)
c.*104C>G (n.*104C>G)
c.3441+16325G>C (n.3441+16325G>C)
c.*536C>G (n.*536C>G)
c.1711C>G (p.Leu571Val)
c.276+16325G>C (n.276+16325G>C)
c.*220+6219C>G (n.*220+6219C>G)
c.835C>G (p.Leu279Val)
c.862C>G (p.Leu288Val)
c.1717C>G (p.Leu573Val)
c.1531C>G (p.Leu511Val)
c.1450C>G (p.Leu484Val)
c.1156C>G (p.Leu386Val)
c.1537C>G (p.Leu513Val)
2g.48688005G>TCA346744495GTF2A1L,LHCGR,STON1-GTF2A1Lc.1792C>A (p.Leu598Ile)
c.*104C>A (n.*104C>A)
c.3441+16325G>T (n.3441+16325G>T)
c.*536C>A (n.*536C>A)
c.1711C>A (p.Leu571Ile)
c.276+16325G>T (n.276+16325G>T)
c.*220+6219C>A (n.*220+6219C>A)
c.835C>A (p.Leu279Ile)
c.862C>A (p.Leu288Ile)
c.1717C>A (p.Leu573Ile)
c.1531C>A (p.Leu511Ile)
c.1450C>A (p.Leu484Ile)
c.1156C>A (p.Leu386Ile)
c.1537C>A (p.Leu513Ile)
2g.48688006A>CCA426124887GTF2A1L,LHCGR,STON1-GTF2A1Lc.1791T>G (p.Pro597=)
c.*103T>G (n.*103T>G)
c.3441+16326A>C (n.3441+16326A>C)
c.*535T>G (n.*535T>G)
c.1710T>G (p.Pro570=)
c.276+16326A>C (n.276+16326A>C)
c.*220+6218T>G (n.*220+6218T>G)
c.834T>G (p.Pro278=)
c.861T>G (p.Pro287=)
c.1716T>G (p.Pro572=)
c.1530T>G (p.Pro510=)
c.1449T>G (p.Pro483=)
c.1155T>G (p.Pro385=)
c.1536T>G (p.Pro512=)
2g.48688006A>GCA426124888GTF2A1L,LHCGR,STON1-GTF2A1Lc.1791T>C (p.Pro597=)
c.*103T>C (n.*103T>C)
c.3441+16326A>G (n.3441+16326A>G)
c.*535T>C (n.*535T>C)
c.1710T>C (p.Pro570=)
c.276+16326A>G (n.276+16326A>G)
c.*220+6218T>C (n.*220+6218T>C)
c.834T>C (p.Pro278=)
c.861T>C (p.Pro287=)
c.1716T>C (p.Pro572=)
c.1530T>C (p.Pro510=)
c.1449T>C (p.Pro483=)
c.1155T>C (p.Pro385=)
c.1536T>C (p.Pro512=)
2g.48688006A>TCA426124889GTF2A1L,LHCGR,STON1-GTF2A1Lc.1791T>A (p.Pro597=)
c.*103T>A (n.*103T>A)
c.3441+16326A>T (n.3441+16326A>T)
c.*535T>A (n.*535T>A)
c.1710T>A (p.Pro570=)
c.276+16326A>T (n.276+16326A>T)
c.*220+6218T>A (n.*220+6218T>A)
c.834T>A (p.Pro278=)
c.861T>A (p.Pro287=)
c.1716T>A (p.Pro572=)
c.1530T>A (p.Pro510=)
c.1449T>A (p.Pro483=)
c.1155T>A (p.Pro385=)
c.1536T>A (p.Pro512=)
2g.48688007G>ACA346744501GTF2A1L,LHCGR,STON1-GTF2A1Lc.1790C>T (p.Pro597Leu)
c.*102C>T (n.*102C>T)
c.3441+16327G>A (n.3441+16327G>A)
c.*534C>T (n.*534C>T)
c.1709C>T (p.Pro570Leu)
c.276+16327G>A (n.276+16327G>A)
c.*220+6217C>T (n.*220+6217C>T)
c.833C>T (p.Pro278Leu)
c.860C>T (p.Pro287Leu)
c.1715C>T (p.Pro572Leu)
c.1529C>T (p.Pro510Leu)
c.1448C>T (p.Pro483Leu)
c.1154C>T (p.Pro385Leu)
c.1535C>T (p.Pro512Leu)
 dbSNP
2g.48688007G>CCA346744504GTF2A1L,LHCGR,STON1-GTF2A1Lc.1790C>G (p.Pro597Arg)
c.*102C>G (n.*102C>G)
c.3441+16327G>C (n.3441+16327G>C)
c.*534C>G (n.*534C>G)
c.1709C>G (p.Pro570Arg)
c.276+16327G>C (n.276+16327G>C)
c.*220+6217C>G (n.*220+6217C>G)
c.833C>G (p.Pro278Arg)
c.860C>G (p.Pro287Arg)
c.1715C>G (p.Pro572Arg)
c.1529C>G (p.Pro510Arg)
c.1448C>G (p.Pro483Arg)
c.1154C>G (p.Pro385Arg)
c.1535C>G (p.Pro512Arg)
2g.48688007G=CA1248600942GTF2A1L,LHCGR,STON1-GTF2A1Lc.1790C= (p.Pro597=)
c.*102C= (n.*102C=)
c.3441+16327G= (n.3441+16327G=)
c.*534C= (n.*534C=)
c.1709C= (p.Pro570=)
c.276+16327G= (n.276+16327G=)
c.*220+6217C= (n.*220+6217C=)
c.833C= (p.Pro278=)
c.860C= (p.Pro287=)
c.1715C= (p.Pro572=)
c.1529C= (p.Pro510=)
c.1448C= (p.Pro483=)
c.1154C= (p.Pro385=)
c.1535C= (p.Pro512=)
2g.48688007G>TCA346744506GTF2A1L,LHCGR,STON1-GTF2A1Lc.1790C>A (p.Pro597His)
c.*102C>A (n.*102C>A)
c.3441+16327G>T (n.3441+16327G>T)
c.*534C>A (n.*534C>A)
c.1709C>A (p.Pro570His)
c.276+16327G>T (n.276+16327G>T)
c.*220+6217C>A (n.*220+6217C>A)
c.833C>A (p.Pro278His)
c.860C>A (p.Pro287His)
c.1715C>A (p.Pro572His)
c.1529C>A (p.Pro510His)
c.1448C>A (p.Pro483His)
c.1154C>A (p.Pro385His)
c.1535C>A (p.Pro512His)
 COSMIC
2g.48688008G>ACA346744508GTF2A1L,LHCGR,STON1-GTF2A1Lc.1789C>T (p.Pro597Ser)
c.*101C>T (n.*101C>T)
c.3441+16328G>A (n.3441+16328G>A)
c.*533C>T (n.*533C>T)
c.1708C>T (p.Pro570Ser)
c.276+16328G>A (n.276+16328G>A)
c.*220+6216C>T (n.*220+6216C>T)
c.832C>T (p.Pro278Ser)
c.859C>T (p.Pro287Ser)
c.1714C>T (p.Pro572Ser)
c.1528C>T (p.Pro510Ser)
c.1447C>T (p.Pro483Ser)
c.1153C>T (p.Pro385Ser)
c.1534C>T (p.Pro512Ser)
 dbSNP gnomAD v4
2g.48688008G>CCA346744512GTF2A1L,LHCGR,STON1-GTF2A1Lc.1789C>G (p.Pro597Ala)
c.*101C>G (n.*101C>G)
c.3441+16328G>C (n.3441+16328G>C)
c.*533C>G (n.*533C>G)
c.1708C>G (p.Pro570Ala)
c.276+16328G>C (n.276+16328G>C)
c.*220+6216C>G (n.*220+6216C>G)
c.832C>G (p.Pro278Ala)
c.859C>G (p.Pro287Ala)
c.1714C>G (p.Pro572Ala)
c.1528C>G (p.Pro510Ala)
c.1447C>G (p.Pro483Ala)
c.1153C>G (p.Pro385Ala)
c.1534C>G (p.Pro512Ala)
2g.48688008G=CA1248600943GTF2A1L,LHCGR,STON1-GTF2A1Lc.1789C= (p.Pro597=)
c.*101C= (n.*101C=)
c.3441+16328G= (n.3441+16328G=)
c.*533C= (n.*533C=)
c.1708C= (p.Pro570=)
c.276+16328G= (n.276+16328G=)
c.*220+6216C= (n.*220+6216C=)
c.832C= (p.Pro278=)
c.859C= (p.Pro287=)
c.1714C= (p.Pro572=)
c.1528C= (p.Pro510=)
c.1447C= (p.Pro483=)
c.1153C= (p.Pro385=)
c.1534C= (p.Pro512=)
2g.48688008G>TCA346744514GTF2A1L,LHCGR,STON1-GTF2A1Lc.1789C>A (p.Pro597Thr)
c.*101C>A (n.*101C>A)
c.3441+16328G>T (n.3441+16328G>T)
c.*533C>A (n.*533C>A)
c.1708C>A (p.Pro570Thr)
c.276+16328G>T (n.276+16328G>T)
c.*220+6216C>A (n.*220+6216C>A)
c.832C>A (p.Pro278Thr)
c.859C>A (p.Pro287Thr)
c.1714C>A (p.Pro572Thr)
c.1528C>A (p.Pro510Thr)
c.1447C>A (p.Pro483Thr)
c.1153C>A (p.Pro385Thr)
c.1534C>A (p.Pro512Thr)
2g.48688009T>ACA1652989GTF2A1L,LHCGR,STON1-GTF2A1Lc.1788A>T (p.Val596=)
c.*100A>T (n.*100A>T)
c.3441+16329T>A (n.3441+16329T>A)
c.*532A>T (n.*532A>T)
c.1707A>T (p.Val569=)
c.276+16329T>A (n.276+16329T>A)
c.*220+6215A>T (n.*220+6215A>T)
c.831A>T (p.Val277=)
c.858A>T (p.Val286=)
c.1713A>T (p.Val571=)
c.1527A>T (p.Val509=)
c.1446A>T (p.Val482=)
c.1152A>T (p.Val384=)
c.1533A>T (p.Val511=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688009T>CCA426124890GTF2A1L,LHCGR,STON1-GTF2A1Lc.1788A>G (p.Val596=)
c.*100A>G (n.*100A>G)
c.3441+16329T>C (n.3441+16329T>C)
c.*532A>G (n.*532A>G)
c.1707A>G (p.Val569=)
c.276+16329T>C (n.276+16329T>C)
c.*220+6215A>G (n.*220+6215A>G)
c.831A>G (p.Val277=)
c.858A>G (p.Val286=)
c.1713A>G (p.Val571=)
c.1527A>G (p.Val509=)
c.1446A>G (p.Val482=)
c.1152A>G (p.Val384=)
c.1533A>G (p.Val511=)
2g.48688009T>GCA426124891GTF2A1L,LHCGR,STON1-GTF2A1Lc.1788A>C (p.Val596=)
c.*100A>C (n.*100A>C)
c.3441+16329T>G (n.3441+16329T>G)
c.*532A>C (n.*532A>C)
c.1707A>C (p.Val569=)
c.276+16329T>G (n.276+16329T>G)
c.*220+6215A>C (n.*220+6215A>C)
c.831A>C (p.Val277=)
c.858A>C (p.Val286=)
c.1713A>C (p.Val571=)
c.1527A>C (p.Val509=)
c.1446A>C (p.Val482=)
c.1152A>C (p.Val384=)
c.1533A>C (p.Val511=)
2g.48688009T=CA1248600944GTF2A1L,LHCGR,STON1-GTF2A1Lc.1788A= (p.Val596=)
c.*100A= (n.*100A=)
c.3441+16329T= (n.3441+16329T=)
c.*532A= (n.*532A=)
c.1707A= (p.Val569=)
c.276+16329T= (n.276+16329T=)
c.*220+6215A= (n.*220+6215A=)
c.831A= (p.Val277=)
c.858A= (p.Val286=)
c.1713A= (p.Val571=)
c.1527A= (p.Val509=)
c.1446A= (p.Val482=)
c.1152A= (p.Val384=)
c.1533A= (p.Val511=)
2g.48688010A=CA1248600945GTF2A1L,LHCGR,STON1-GTF2A1Lc.1787T= (p.Val596=)
c.*99T= (n.*99T=)
c.3441+16330A= (n.3441+16330A=)
c.*531T= (n.*531T=)
c.1706T= (p.Val569=)
c.276+16330A= (n.276+16330A=)
c.*220+6214T= (n.*220+6214T=)
c.830T= (p.Val277=)
c.857T= (p.Val286=)
c.1712T= (p.Val571=)
c.1526T= (p.Val509=)
c.1445T= (p.Val482=)
c.1151T= (p.Val384=)
c.1532T= (p.Val511=)
2g.48688010A>CCA1652990GTF2A1L,LHCGR,STON1-GTF2A1Lc.1787T>G (p.Val596Gly)
c.*99T>G (n.*99T>G)
c.3441+16330A>C (n.3441+16330A>C)
c.*531T>G (n.*531T>G)
c.1706T>G (p.Val569Gly)
c.276+16330A>C (n.276+16330A>C)
c.*220+6214T>G (n.*220+6214T>G)
c.830T>G (p.Val277Gly)
c.857T>G (p.Val286Gly)
c.1712T>G (p.Val571Gly)
c.1526T>G (p.Val509Gly)
c.1445T>G (p.Val482Gly)
c.1151T>G (p.Val384Gly)
c.1532T>G (p.Val511Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688010A>GCA346744518GTF2A1L,LHCGR,STON1-GTF2A1Lc.1787T>C (p.Val596Ala)
c.*99T>C (n.*99T>C)
c.3441+16330A>G (n.3441+16330A>G)
c.*531T>C (n.*531T>C)
c.1706T>C (p.Val569Ala)
c.276+16330A>G (n.276+16330A>G)
c.*220+6214T>C (n.*220+6214T>C)
c.830T>C (p.Val277Ala)
c.857T>C (p.Val286Ala)
c.1712T>C (p.Val571Ala)
c.1526T>C (p.Val509Ala)
c.1445T>C (p.Val482Ala)
c.1151T>C (p.Val384Ala)
c.1532T>C (p.Val511Ala)
 gnomAD v4
2g.48688010A>TCA346744520GTF2A1L,LHCGR,STON1-GTF2A1Lc.1787T>A (p.Val596Glu)
c.*99T>A (n.*99T>A)
c.3441+16330A>T (n.3441+16330A>T)
c.*531T>A (n.*531T>A)
c.1706T>A (p.Val569Glu)
c.276+16330A>T (n.276+16330A>T)
c.*220+6214T>A (n.*220+6214T>A)
c.830T>A (p.Val277Glu)
c.857T>A (p.Val286Glu)
c.1712T>A (p.Val571Glu)
c.1526T>A (p.Val509Glu)
c.1445T>A (p.Val482Glu)
c.1151T>A (p.Val384Glu)
c.1532T>A (p.Val511Glu)
2g.48688011C>ACA46752743GTF2A1L,LHCGR,STON1-GTF2A1Lc.1786G>T (p.Val596Leu)
c.*98G>T (n.*98G>T)
c.3441+16331C>A (n.3441+16331C>A)
c.*530G>T (n.*530G>T)
c.1705G>T (p.Val569Leu)
c.276+16331C>A (n.276+16331C>A)
c.*220+6213G>T (n.*220+6213G>T)
c.829G>T (p.Val277Leu)
c.856G>T (p.Val286Leu)
c.1711G>T (p.Val571Leu)
c.1525G>T (p.Val509Leu)
c.1444G>T (p.Val482Leu)
c.1150G>T (p.Val384Leu)
c.1531G>T (p.Val511Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48688011C=CA1248600946GTF2A1L,LHCGR,STON1-GTF2A1Lc.1786G= (p.Val596=)
c.*98G= (n.*98G=)
c.3441+16331C= (n.3441+16331C=)
c.*530G= (n.*530G=)
c.1705G= (p.Val569=)
c.276+16331C= (n.276+16331C=)
c.*220+6213G= (n.*220+6213G=)
c.829G= (p.Val277=)
c.856G= (p.Val286=)
c.1711G= (p.Val571=)
c.1525G= (p.Val509=)
c.1444G= (p.Val482=)
c.1150G= (p.Val384=)
c.1531G= (p.Val511=)
2g.48688011C>GCA346744524GTF2A1L,LHCGR,STON1-GTF2A1Lc.1786G>C (p.Val596Leu)
c.*98G>C (n.*98G>C)
c.3441+16331C>G (n.3441+16331C>G)
c.*530G>C (n.*530G>C)
c.1705G>C (p.Val569Leu)
c.276+16331C>G (n.276+16331C>G)
c.*220+6213G>C (n.*220+6213G>C)
c.829G>C (p.Val277Leu)
c.856G>C (p.Val286Leu)
c.1711G>C (p.Val571Leu)
c.1525G>C (p.Val509Leu)
c.1444G>C (p.Val482Leu)
c.1150G>C (p.Val384Leu)
c.1531G>C (p.Val511Leu)
2g.48688011C>TCA346744523GTF2A1L,LHCGR,STON1-GTF2A1Lc.1786G>A (p.Val596Ile)
c.*98G>A (n.*98G>A)
c.3441+16331C>T (n.3441+16331C>T)
c.*530G>A (n.*530G>A)
c.1705G>A (p.Val569Ile)
c.276+16331C>T (n.276+16331C>T)
c.*220+6213G>A (n.*220+6213G>A)
c.829G>A (p.Val277Ile)
c.856G>A (p.Val286Ile)
c.1711G>A (p.Val571Ile)
c.1525G>A (p.Val509Ile)
c.1444G>A (p.Val482Ile)
c.1150G>A (p.Val384Ile)
c.1531G>A (p.Val511Ile)
 gnomAD v4
2g.48688012T>ACA346744525GTF2A1L,LHCGR,STON1-GTF2A1Lc.1785A>T (p.Lys595Asn)
c.*97A>T (n.*97A>T)
c.3441+16332T>A (n.3441+16332T>A)
c.*529A>T (n.*529A>T)
c.1704A>T (p.Lys568Asn)
c.276+16332T>A (n.276+16332T>A)
c.*220+6212A>T (n.*220+6212A>T)
c.828A>T (p.Lys276Asn)
c.855A>T (p.Lys285Asn)
c.1710A>T (p.Lys570Asn)
c.1524A>T (p.Lys508Asn)
c.1443A>T (p.Lys481Asn)
c.1149A>T (p.Lys383Asn)
c.1530A>T (p.Lys510Asn)
2g.48688012T>CCA426124892GTF2A1L,LHCGR,STON1-GTF2A1Lc.1785A>G (p.Lys595=)
c.*97A>G (n.*97A>G)
c.3441+16332T>C (n.3441+16332T>C)
c.*529A>G (n.*529A>G)
c.1704A>G (p.Lys568=)
c.276+16332T>C (n.276+16332T>C)
c.*220+6212A>G (n.*220+6212A>G)
c.828A>G (p.Lys276=)
c.855A>G (p.Lys285=)
c.1710A>G (p.Lys570=)
c.1524A>G (p.Lys508=)
c.1443A>G (p.Lys481=)
c.1149A>G (p.Lys383=)
c.1530A>G (p.Lys510=)
 dbSNP gnomAD v3 gnomAD v4
2g.48688012T>GCA346744527GTF2A1L,LHCGR,STON1-GTF2A1Lc.1785A>C (p.Lys595Asn)
c.*97A>C (n.*97A>C)
c.3441+16332T>G (n.3441+16332T>G)
c.*529A>C (n.*529A>C)
c.1704A>C (p.Lys568Asn)
c.276+16332T>G (n.276+16332T>G)
c.*220+6212A>C (n.*220+6212A>C)
c.828A>C (p.Lys276Asn)
c.855A>C (p.Lys285Asn)
c.1710A>C (p.Lys570Asn)
c.1524A>C (p.Lys508Asn)
c.1443A>C (p.Lys481Asn)
c.1149A>C (p.Lys383Asn)
c.1530A>C (p.Lys510Asn)
2g.48688012T=CA1248600947GTF2A1L,LHCGR,STON1-GTF2A1Lc.1785A= (p.Lys595=)
c.*97A= (n.*97A=)
c.3441+16332T= (n.3441+16332T=)
c.*529A= (n.*529A=)
c.1704A= (p.Lys568=)
c.276+16332T= (n.276+16332T=)
c.*220+6212A= (n.*220+6212A=)
c.828A= (p.Lys276=)
c.855A= (p.Lys285=)
c.1710A= (p.Lys570=)
c.1524A= (p.Lys508=)
c.1443A= (p.Lys481=)
c.1149A= (p.Lys383=)
c.1530A= (p.Lys510=)
2g.48688013T>ACA346744530GTF2A1L,LHCGR,STON1-GTF2A1Lc.1784A>T (p.Lys595Ile)
c.*96A>T (n.*96A>T)
c.3441+16333T>A (n.3441+16333T>A)
c.*528A>T (n.*528A>T)
c.1703A>T (p.Lys568Ile)
c.276+16333T>A (n.276+16333T>A)
c.*220+6211A>T (n.*220+6211A>T)
c.827A>T (p.Lys276Ile)
c.854A>T (p.Lys285Ile)
c.1709A>T (p.Lys570Ile)
c.1523A>T (p.Lys508Ile)
c.1442A>T (p.Lys481Ile)
c.1148A>T (p.Lys383Ile)
c.1529A>T (p.Lys510Ile)
2g.48688013T>CCA346744533GTF2A1L,LHCGR,STON1-GTF2A1Lc.1784A>G (p.Lys595Arg)
c.*96A>G (n.*96A>G)
c.3441+16333T>C (n.3441+16333T>C)
c.*528A>G (n.*528A>G)
c.1703A>G (p.Lys568Arg)
c.276+16333T>C (n.276+16333T>C)
c.*220+6211A>G (n.*220+6211A>G)
c.827A>G (p.Lys276Arg)
c.854A>G (p.Lys285Arg)
c.1709A>G (p.Lys570Arg)
c.1523A>G (p.Lys508Arg)
c.1442A>G (p.Lys481Arg)
c.1148A>G (p.Lys383Arg)
c.1529A>G (p.Lys510Arg)
 dbSNP gnomAD v2 gnomAD v4
2g.48688013T>GCA346744536GTF2A1L,LHCGR,STON1-GTF2A1Lc.1784A>C (p.Lys595Thr)
c.*96A>C (n.*96A>C)
c.3441+16333T>G (n.3441+16333T>G)
c.*528A>C (n.*528A>C)
c.1703A>C (p.Lys568Thr)
c.276+16333T>G (n.276+16333T>G)
c.*220+6211A>C (n.*220+6211A>C)
c.827A>C (p.Lys276Thr)
c.854A>C (p.Lys285Thr)
c.1709A>C (p.Lys570Thr)
c.1523A>C (p.Lys508Thr)
c.1442A>C (p.Lys481Thr)
c.1148A>C (p.Lys383Thr)
c.1529A>C (p.Lys510Thr)
2g.48688013T=CA1248600948GTF2A1L,LHCGR,STON1-GTF2A1Lc.1784A= (p.Lys595=)
c.*96A= (n.*96A=)
c.3441+16333T= (n.3441+16333T=)
c.*528A= (n.*528A=)
c.1703A= (p.Lys568=)
c.276+16333T= (n.276+16333T=)
c.*220+6211A= (n.*220+6211A=)
c.827A= (p.Lys276=)
c.854A= (p.Lys285=)
c.1709A= (p.Lys570=)
c.1523A= (p.Lys508=)
c.1442A= (p.Lys481=)
c.1148A= (p.Lys383=)
c.1529A= (p.Lys510=)
2g.48688014T>ACA346744539GTF2A1L,LHCGR,STON1-GTF2A1Lc.1783A>T (p.Lys595Ter)
c.*95A>T (n.*95A>T)
c.3441+16334T>A (n.3441+16334T>A)
c.*527A>T (n.*527A>T)
c.1702A>T (p.Lys568Ter)
c.276+16334T>A (n.276+16334T>A)
c.*220+6210A>T (n.*220+6210A>T)
c.826A>T (p.Lys276Ter)
c.853A>T (p.Lys285Ter)
c.1708A>T (p.Lys570Ter)
c.1522A>T (p.Lys508Ter)
c.1441A>T (p.Lys481Ter)
c.1147A>T (p.Lys383Ter)
c.1528A>T (p.Lys510Ter)
2g.48688014T>CCA346744541GTF2A1L,LHCGR,STON1-GTF2A1Lc.1783A>G (p.Lys595Glu)
c.*95A>G (n.*95A>G)
c.3441+16334T>C (n.3441+16334T>C)
c.*527A>G (n.*527A>G)
c.1702A>G (p.Lys568Glu)
c.276+16334T>C (n.276+16334T>C)
c.*220+6210A>G (n.*220+6210A>G)
c.826A>G (p.Lys276Glu)
c.853A>G (p.Lys285Glu)
c.1708A>G (p.Lys570Glu)
c.1522A>G (p.Lys508Glu)
c.1441A>G (p.Lys481Glu)
c.1147A>G (p.Lys383Glu)
c.1528A>G (p.Lys510Glu)
2g.48688014T>GCA346744544GTF2A1L,LHCGR,STON1-GTF2A1Lc.1783A>C (p.Lys595Gln)
c.*95A>C (n.*95A>C)
c.3441+16334T>G (n.3441+16334T>G)
c.*527A>C (n.*527A>C)
c.1702A>C (p.Lys568Gln)
c.276+16334T>G (n.276+16334T>G)
c.*220+6210A>C (n.*220+6210A>C)
c.826A>C (p.Lys276Gln)
c.853A>C (p.Lys285Gln)
c.1708A>C (p.Lys570Gln)
c.1522A>C (p.Lys508Gln)
c.1441A>C (p.Lys481Gln)
c.1147A>C (p.Lys383Gln)
c.1528A>C (p.Lys510Gln)
2g.48688015G>ACA426124893GTF2A1L,LHCGR,STON1-GTF2A1Lc.1782C>T (p.Phe594=)
c.*94C>T (n.*94C>T)
c.3441+16335G>A (n.3441+16335G>A)
c.*526C>T (n.*526C>T)
c.1701C>T (p.Phe567=)
c.276+16335G>A (n.276+16335G>A)
c.*220+6209C>T (n.*220+6209C>T)
c.825C>T (p.Phe275=)
c.852C>T (p.Phe284=)
c.1707C>T (p.Phe569=)
c.1521C>T (p.Phe507=)
c.1440C>T (p.Phe480=)
c.1146C>T (p.Phe382=)
c.1527C>T (p.Phe509=)
2g.48688015G>CCA346744547GTF2A1L,LHCGR,STON1-GTF2A1Lc.1782C>G (p.Phe594Leu)
c.*94C>G (n.*94C>G)
c.3441+16335G>C (n.3441+16335G>C)
c.*526C>G (n.*526C>G)
c.1701C>G (p.Phe567Leu)
c.276+16335G>C (n.276+16335G>C)
c.*220+6209C>G (n.*220+6209C>G)
c.825C>G (p.Phe275Leu)
c.852C>G (p.Phe284Leu)
c.1707C>G (p.Phe569Leu)
c.1521C>G (p.Phe507Leu)
c.1440C>G (p.Phe480Leu)
c.1146C>G (p.Phe382Leu)
c.1527C>G (p.Phe509Leu)
 dbSNP
2g.48688015G>TCA346744549GTF2A1L,LHCGR,STON1-GTF2A1Lc.1782C>A (p.Phe594Leu)
c.*94C>A (n.*94C>A)
c.3441+16335G>T (n.3441+16335G>T)
c.*526C>A (n.*526C>A)
c.1701C>A (p.Phe567Leu)
c.276+16335G>T (n.276+16335G>T)
c.*220+6209C>A (n.*220+6209C>A)
c.825C>A (p.Phe275Leu)
c.852C>A (p.Phe284Leu)
c.1707C>A (p.Phe569Leu)
c.1521C>A (p.Phe507Leu)
c.1440C>A (p.Phe480Leu)
c.1146C>A (p.Phe382Leu)
c.1527C>A (p.Phe509Leu)
2g.48688016A>CCA346744556GTF2A1L,LHCGR,STON1-GTF2A1Lc.1781T>G (p.Phe594Cys)
c.*93T>G (n.*93T>G)
c.3441+16336A>C (n.3441+16336A>C)
c.*525T>G (n.*525T>G)
c.1700T>G (p.Phe567Cys)
c.276+16336A>C (n.276+16336A>C)
c.*220+6208T>G (n.*220+6208T>G)
c.824T>G (p.Phe275Cys)
c.851T>G (p.Phe284Cys)
c.1706T>G (p.Phe569Cys)
c.1520T>G (p.Phe507Cys)
c.1439T>G (p.Phe480Cys)
c.1145T>G (p.Phe382Cys)
c.1526T>G (p.Phe509Cys)
2g.48688016A>GCA346744557GTF2A1L,LHCGR,STON1-GTF2A1Lc.1781T>C (p.Phe594Ser)
c.*93T>C (n.*93T>C)
c.3441+16336A>G (n.3441+16336A>G)
c.*525T>C (n.*525T>C)
c.1700T>C (p.Phe567Ser)
c.276+16336A>G (n.276+16336A>G)
c.*220+6208T>C (n.*220+6208T>C)
c.824T>C (p.Phe275Ser)
c.851T>C (p.Phe284Ser)
c.1706T>C (p.Phe569Ser)
c.1520T>C (p.Phe507Ser)
c.1439T>C (p.Phe480Ser)
c.1145T>C (p.Phe382Ser)
c.1526T>C (p.Phe509Ser)
2g.48688016A>TCA346744559GTF2A1L,LHCGR,STON1-GTF2A1Lc.1781T>A (p.Phe594Tyr)
c.*93T>A (n.*93T>A)
c.3441+16336A>T (n.3441+16336A>T)
c.*525T>A (n.*525T>A)
c.1700T>A (p.Phe567Tyr)
c.276+16336A>T (n.276+16336A>T)
c.*220+6208T>A (n.*220+6208T>A)
c.824T>A (p.Phe275Tyr)
c.851T>A (p.Phe284Tyr)
c.1706T>A (p.Phe569Tyr)
c.1520T>A (p.Phe507Tyr)
c.1439T>A (p.Phe480Tyr)
c.1145T>A (p.Phe382Tyr)
c.1526T>A (p.Phe509Tyr)
2g.48688017A>CCA346744566GTF2A1L,LHCGR,STON1-GTF2A1Lc.1780T>G (p.Phe594Val)
c.*92T>G (n.*92T>G)
c.3441+16337A>C (n.3441+16337A>C)
c.*524T>G (n.*524T>G)
c.1699T>G (p.Phe567Val)
c.276+16337A>C (n.276+16337A>C)
c.*220+6207T>G (n.*220+6207T>G)
c.823T>G (p.Phe275Val)
c.850T>G (p.Phe284Val)
c.1705T>G (p.Phe569Val)
c.1519T>G (p.Phe507Val)
c.1438T>G (p.Phe480Val)
c.1144T>G (p.Phe382Val)
c.1525T>G (p.Phe509Val)
2g.48688017A>GCA346744564GTF2A1L,LHCGR,STON1-GTF2A1Lc.1780T>C (p.Phe594Leu)
c.*92T>C (n.*92T>C)
c.3441+16337A>G (n.3441+16337A>G)
c.*524T>C (n.*524T>C)
c.1699T>C (p.Phe567Leu)
c.276+16337A>G (n.276+16337A>G)
c.*220+6207T>C (n.*220+6207T>C)
c.823T>C (p.Phe275Leu)
c.850T>C (p.Phe284Leu)
c.1705T>C (p.Phe569Leu)
c.1519T>C (p.Phe507Leu)
c.1438T>C (p.Phe480Leu)
c.1144T>C (p.Phe382Leu)
c.1525T>C (p.Phe509Leu)
2g.48688017A>TCA346744562GTF2A1L,LHCGR,STON1-GTF2A1Lc.1780T>A (p.Phe594Ile)
c.*92T>A (n.*92T>A)
c.3441+16337A>T (n.3441+16337A>T)
c.*524T>A (n.*524T>A)
c.1699T>A (p.Phe567Ile)
c.276+16337A>T (n.276+16337A>T)
c.*220+6207T>A (n.*220+6207T>A)
c.823T>A (p.Phe275Ile)
c.850T>A (p.Phe284Ile)
c.1705T>A (p.Phe569Ile)
c.1519T>A (p.Phe507Ile)
c.1438T>A (p.Phe480Ile)
c.1144T>A (p.Phe382Ile)
c.1525T>A (p.Phe509Ile)
2g.48688018G>ACA426124894GTF2A1L,LHCGR,STON1-GTF2A1Lc.1779C>T (p.Ala593=)
c.*91C>T (n.*91C>T)
c.3441+16338G>A (n.3441+16338G>A)
c.*523C>T (n.*523C>T)
c.1698C>T (p.Ala566=)
c.276+16338G>A (n.276+16338G>A)
c.*220+6206C>T (n.*220+6206C>T)
c.822C>T (p.Ala274=)
c.849C>T (p.Ala283=)
c.1704C>T (p.Ala568=)
c.1518C>T (p.Ala506=)
c.1437C>T (p.Ala479=)
c.1143C>T (p.Ala381=)
c.1524C>T (p.Ala508=)
2g.48688018G>CCA426124895GTF2A1L,LHCGR,STON1-GTF2A1Lc.1779C>G (p.Ala593=)
c.*91C>G (n.*91C>G)
c.3441+16338G>C (n.3441+16338G>C)
c.*523C>G (n.*523C>G)
c.1698C>G (p.Ala566=)
c.276+16338G>C (n.276+16338G>C)
c.*220+6206C>G (n.*220+6206C>G)
c.822C>G (p.Ala274=)
c.849C>G (p.Ala283=)
c.1704C>G (p.Ala568=)
c.1518C>G (p.Ala506=)
c.1437C>G (p.Ala479=)
c.1143C>G (p.Ala381=)
c.1524C>G (p.Ala508=)
2g.48688018G>TCA426124896GTF2A1L,LHCGR,STON1-GTF2A1Lc.1779C>A (p.Ala593=)
c.*91C>A (n.*91C>A)
c.3441+16338G>T (n.3441+16338G>T)
c.*523C>A (n.*523C>A)
c.1698C>A (p.Ala566=)
c.276+16338G>T (n.276+16338G>T)
c.*220+6206C>A (n.*220+6206C>A)
c.822C>A (p.Ala274=)
c.849C>A (p.Ala283=)
c.1704C>A (p.Ala568=)
c.1518C>A (p.Ala506=)
c.1437C>A (p.Ala479=)
c.1143C>A (p.Ala381=)
c.1524C>A (p.Ala508=)
2g.48688019G>ACA346744568GTF2A1L,LHCGR,STON1-GTF2A1Lc.1778C>T (p.Ala593Val)
c.*90C>T (n.*90C>T)
c.3441+16339G>A (n.3441+16339G>A)
c.*522C>T (n.*522C>T)
c.1697C>T (p.Ala566Val)
c.276+16339G>A (n.276+16339G>A)
c.*220+6205C>T (n.*220+6205C>T)
c.821C>T (p.Ala274Val)
c.848C>T (p.Ala283Val)
c.1703C>T (p.Ala568Val)
c.1517C>T (p.Ala506Val)
c.1436C>T (p.Ala479Val)
c.1142C>T (p.Ala381Val)
c.1523C>T (p.Ala508Val)
 dbSNP
2g.48688019G>CCA346744569GTF2A1L,LHCGR,STON1-GTF2A1Lc.1778C>G (p.Ala593Gly)
c.*90C>G (n.*90C>G)
c.3441+16339G>C (n.3441+16339G>C)
c.*522C>G (n.*522C>G)
c.1697C>G (p.Ala566Gly)
c.276+16339G>C (n.276+16339G>C)
c.*220+6205C>G (n.*220+6205C>G)
c.821C>G (p.Ala274Gly)
c.848C>G (p.Ala283Gly)
c.1703C>G (p.Ala568Gly)
c.1517C>G (p.Ala506Gly)
c.1436C>G (p.Ala479Gly)
c.1142C>G (p.Ala381Gly)
c.1523C>G (p.Ala508Gly)
2g.48688019G=CA1248600949GTF2A1L,LHCGR,STON1-GTF2A1Lc.1778C= (p.Ala593=)
c.*90C= (n.*90C=)
c.3441+16339G= (n.3441+16339G=)
c.*522C= (n.*522C=)
c.1697C= (p.Ala566=)
c.276+16339G= (n.276+16339G=)
c.*220+6205C= (n.*220+6205C=)
c.821C= (p.Ala274=)
c.848C= (p.Ala283=)
c.1703C= (p.Ala568=)
c.1517C= (p.Ala506=)
c.1436C= (p.Ala479=)
c.1142C= (p.Ala381=)
c.1523C= (p.Ala508=)
2g.48688019G>TCA346744570GTF2A1L,LHCGR,STON1-GTF2A1Lc.1778C>A (p.Ala593Asp)
c.*90C>A (n.*90C>A)
c.3441+16339G>T (n.3441+16339G>T)
c.*522C>A (n.*522C>A)
c.1697C>A (p.Ala566Asp)
c.276+16339G>T (n.276+16339G>T)
c.*220+6205C>A (n.*220+6205C>A)
c.821C>A (p.Ala274Asp)
c.848C>A (p.Ala283Asp)
c.1703C>A (p.Ala568Asp)
c.1517C>A (p.Ala506Asp)
c.1436C>A (p.Ala479Asp)
c.1142C>A (p.Ala381Asp)
c.1523C>A (p.Ala508Asp)
 dbSNP gnomAD v4
2g.48688020C>ACA346744575GTF2A1L,LHCGR,STON1-GTF2A1Lc.1777G>T (p.Ala593Ser)
c.*89G>T (n.*89G>T)
c.3441+16340C>A (n.3441+16340C>A)
c.*521G>T (n.*521G>T)
c.1696G>T (p.Ala566Ser)
c.276+16340C>A (n.276+16340C>A)
c.*220+6204G>T (n.*220+6204G>T)
c.820G>T (p.Ala274Ser)
c.847G>T (p.Ala283Ser)
c.1702G>T (p.Ala568Ser)
c.1516G>T (p.Ala506Ser)
c.1435G>T (p.Ala479Ser)
c.1141G>T (p.Ala381Ser)
c.1522G>T (p.Ala508Ser)
2g.48688020C=CA1248600950GTF2A1L,LHCGR,STON1-GTF2A1Lc.1777G= (p.Ala593=)
c.*89G= (n.*89G=)
c.3441+16340C= (n.3441+16340C=)
c.*521G= (n.*521G=)
c.1696G= (p.Ala566=)
c.276+16340C= (n.276+16340C=)
c.*220+6204G= (n.*220+6204G=)
c.820G= (p.Ala274=)
c.847G= (p.Ala283=)
c.1702G= (p.Ala568=)
c.1516G= (p.Ala506=)
c.1435G= (p.Ala479=)
c.1141G= (p.Ala381=)
c.1522G= (p.Ala508=)
2g.48688020C>GCA123918GTF2A1L,LHCGR,STON1-GTF2A1Lc.1777G>C (p.Ala593Pro)
c.*89G>C (n.*89G>C)
c.3441+16340C>G (n.3441+16340C>G)
c.*521G>C (n.*521G>C)
c.1696G>C (p.Ala566Pro)
c.276+16340C>G (n.276+16340C>G)
c.*220+6204G>C (n.*220+6204G>C)
c.820G>C (p.Ala274Pro)
c.847G>C (p.Ala283Pro)
c.1702G>C (p.Ala568Pro)
c.1516G>C (p.Ala506Pro)
c.1435G>C (p.Ala479Pro)
c.1141G>C (p.Ala381Pro)
c.1522G>C (p.Ala508Pro)
 ClinVar dbSNP
2g.48688020C>TCA346744582GTF2A1L,LHCGR,STON1-GTF2A1Lc.1777G>A (p.Ala593Thr)
c.*89G>A (n.*89G>A)
c.3441+16340C>T (n.3441+16340C>T)
c.*521G>A (n.*521G>A)
c.1696G>A (p.Ala566Thr)
c.276+16340C>T (n.276+16340C>T)
c.*220+6204G>A (n.*220+6204G>A)
c.820G>A (p.Ala274Thr)
c.847G>A (p.Ala283Thr)
c.1702G>A (p.Ala568Thr)
c.1516G>A (p.Ala506Thr)
c.1435G>A (p.Ala479Thr)
c.1141G>A (p.Ala381Thr)
c.1522G>A (p.Ala508Thr)
2g.48688021A=CA1248600951GTF2A1L,LHCGR,STON1-GTF2A1Lc.1776T= (p.Ala592=)
c.*88T= (n.*88T=)
c.3441+16341A= (n.3441+16341A=)
c.*520T= (n.*520T=)
c.1695T= (p.Ala565=)
c.276+16341A= (n.276+16341A=)
c.*220+6203T= (n.*220+6203T=)
c.819T= (p.Ala273=)
c.846T= (p.Ala282=)
c.1701T= (p.Ala567=)
c.1515T= (p.Ala505=)
c.1434T= (p.Ala478=)
c.1140T= (p.Ala380=)
c.1521T= (p.Ala507=)
2g.48688021A>CCA426124897GTF2A1L,LHCGR,STON1-GTF2A1Lc.1776T>G (p.Ala592=)
c.*88T>G (n.*88T>G)
c.3441+16341A>C (n.3441+16341A>C)
c.*520T>G (n.*520T>G)
c.1695T>G (p.Ala565=)
c.276+16341A>C (n.276+16341A>C)
c.*220+6203T>G (n.*220+6203T>G)
c.819T>G (p.Ala273=)
c.846T>G (p.Ala282=)
c.1701T>G (p.Ala567=)
c.1515T>G (p.Ala505=)
c.1434T>G (p.Ala478=)
c.1140T>G (p.Ala380=)
c.1521T>G (p.Ala507=)
2g.48688021A>GCA1652991GTF2A1L,LHCGR,STON1-GTF2A1Lc.1776T>C (p.Ala592=)
c.*88T>C (n.*88T>C)
c.3441+16341A>G (n.3441+16341A>G)
c.*520T>C (n.*520T>C)
c.1695T>C (p.Ala565=)
c.276+16341A>G (n.276+16341A>G)
c.*220+6203T>C (n.*220+6203T>C)
c.819T>C (p.Ala273=)
c.846T>C (p.Ala282=)
c.1701T>C (p.Ala567=)
c.1515T>C (p.Ala505=)
c.1434T>C (p.Ala478=)
c.1140T>C (p.Ala380=)
c.1521T>C (p.Ala507=)
 dbSNP ExAC gnomAD v2
2g.48688021A>TCA426124898GTF2A1L,LHCGR,STON1-GTF2A1Lc.1776T>A (p.Ala592=)
c.*88T>A (n.*88T>A)
c.3441+16341A>T (n.3441+16341A>T)
c.*520T>A (n.*520T>A)
c.1695T>A (p.Ala565=)
c.276+16341A>T (n.276+16341A>T)
c.*220+6203T>A (n.*220+6203T>A)
c.819T>A (p.Ala273=)
c.846T>A (p.Ala282=)
c.1701T>A (p.Ala567=)
c.1515T>A (p.Ala505=)
c.1434T>A (p.Ala478=)
c.1140T>A (p.Ala380=)
c.1521T>A (p.Ala507=)
2g.48688022G>ACA346744586GTF2A1L,LHCGR,STON1-GTF2A1Lc.1775C>T (p.Ala592Val)
c.*87C>T (n.*87C>T)
c.3441+16342G>A (n.3441+16342G>A)
c.*519C>T (n.*519C>T)
c.1694C>T (p.Ala565Val)
c.276+16342G>A (n.276+16342G>A)
c.*220+6202C>T (n.*220+6202C>T)
c.818C>T (p.Ala273Val)
c.845C>T (p.Ala282Val)
c.1700C>T (p.Ala567Val)
c.1514C>T (p.Ala505Val)
c.1433C>T (p.Ala478Val)
c.1139C>T (p.Ala380Val)
c.1520C>T (p.Ala507Val)
2g.48688022G>CCA346744588GTF2A1L,LHCGR,STON1-GTF2A1Lc.1775C>G (p.Ala592Gly)
c.*87C>G (n.*87C>G)
c.3441+16342G>C (n.3441+16342G>C)
c.*519C>G (n.*519C>G)
c.1694C>G (p.Ala565Gly)
c.276+16342G>C (n.276+16342G>C)
c.*220+6202C>G (n.*220+6202C>G)
c.818C>G (p.Ala273Gly)
c.845C>G (p.Ala282Gly)
c.1700C>G (p.Ala567Gly)
c.1514C>G (p.Ala505Gly)
c.1433C>G (p.Ala478Gly)
c.1139C>G (p.Ala380Gly)
c.1520C>G (p.Ala507Gly)
2g.48688022G>TCA346744590GTF2A1L,LHCGR,STON1-GTF2A1Lc.1775C>A (p.Ala592Asp)
c.*87C>A (n.*87C>A)
c.3441+16342G>T (n.3441+16342G>T)
c.*519C>A (n.*519C>A)
c.1694C>A (p.Ala565Asp)
c.276+16342G>T (n.276+16342G>T)
c.*220+6202C>A (n.*220+6202C>A)
c.818C>A (p.Ala273Asp)
c.845C>A (p.Ala282Asp)
c.1700C>A (p.Ala567Asp)
c.1514C>A (p.Ala505Asp)
c.1433C>A (p.Ala478Asp)
c.1139C>A (p.Ala380Asp)
c.1520C>A (p.Ala507Asp)
2g.48688023C>ACA346744593GTF2A1L,LHCGR,STON1-GTF2A1Lc.1774G>T (p.Ala592Ser)
c.*86G>T (n.*86G>T)
c.3441+16343C>A (n.3441+16343C>A)
c.*518G>T (n.*518G>T)
c.1693G>T (p.Ala565Ser)
c.276+16343C>A (n.276+16343C>A)
c.*220+6201G>T (n.*220+6201G>T)
c.817G>T (p.Ala273Ser)
c.844G>T (p.Ala282Ser)
c.1699G>T (p.Ala567Ser)
c.1513G>T (p.Ala505Ser)
c.1432G>T (p.Ala478Ser)
c.1138G>T (p.Ala380Ser)
c.1519G>T (p.Ala507Ser)
2g.48688023C>GCA346744595GTF2A1L,LHCGR,STON1-GTF2A1Lc.1774G>C (p.Ala592Pro)
c.*86G>C (n.*86G>C)
c.3441+16343C>G (n.3441+16343C>G)
c.*518G>C (n.*518G>C)
c.1693G>C (p.Ala565Pro)
c.276+16343C>G (n.276+16343C>G)
c.*220+6201G>C (n.*220+6201G>C)
c.817G>C (p.Ala273Pro)
c.844G>C (p.Ala282Pro)
c.1699G>C (p.Ala567Pro)
c.1513G>C (p.Ala505Pro)
c.1432G>C (p.Ala478Pro)
c.1138G>C (p.Ala380Pro)
c.1519G>C (p.Ala507Pro)
2g.48688023C>TCA346744596GTF2A1L,LHCGR,STON1-GTF2A1Lc.1774G>A (p.Ala592Thr)
c.*86G>A (n.*86G>A)
c.3441+16343C>T (n.3441+16343C>T)
c.*518G>A (n.*518G>A)
c.1693G>A (p.Ala565Thr)
c.276+16343C>T (n.276+16343C>T)
c.*220+6201G>A (n.*220+6201G>A)
c.817G>A (p.Ala273Thr)
c.844G>A (p.Ala282Thr)
c.1699G>A (p.Ala567Thr)
c.1513G>A (p.Ala505Thr)
c.1432G>A (p.Ala478Thr)
c.1138G>A (p.Ala380Thr)
c.1519G>A (p.Ala507Thr)
 gnomAD v4

Number of alleles fetched