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)

Number of alleles fetched