Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.48688181_48688183delCA1653010GTF2A1L,LHCGR,STON1-GTF2A1Lc.1618_1620del (p.Phe540del)
c.948-40_948-38del (n.948-40_948-38del)
c.3441+16501_3441+16503del (n.3441+16501_3441+16503del)
c.*362_*364del (n.*362_*364del)
c.1537_1539del (p.Phe513del)
c.276+16501_276+16503del (n.276+16501_276+16503del)
c.*220+6045_*220+6047del (n.*220+6045_*220+6047del)
c.661_663del (p.Phe221del)
c.688_690del (p.Phe230del)
c.1543_1545del (p.Phe515del)
c.1357_1359del (p.Phe453del)
c.1276_1278del (p.Phe426del)
c.982_984del (p.Phe328del)
c.1363_1365del (p.Phe455del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688181A=CA1248601021GTF2A1L,LHCGR,STON1-GTF2A1Lc.1616T= (p.Phe539=)
c.948-42T= (n.948-42T=)
c.3441+16501A= (n.3441+16501A=)
c.*360T= (n.*360T=)
c.1535T= (p.Phe512=)
c.276+16501A= (n.276+16501A=)
c.*220+6043T= (n.*220+6043T=)
c.659T= (p.Phe220=)
c.686T= (p.Phe229=)
c.1541T= (p.Phe514=)
c.1355T= (p.Phe452=)
c.1274T= (p.Phe425=)
c.980T= (p.Phe327=)
c.1361T= (p.Phe454=)
2g.48688181A>CCA346745815GTF2A1L,LHCGR,STON1-GTF2A1Lc.1616T>G (p.Phe539Cys)
c.948-42T>G (n.948-42T>G)
c.3441+16501A>C (n.3441+16501A>C)
c.*360T>G (n.*360T>G)
c.1535T>G (p.Phe512Cys)
c.276+16501A>C (n.276+16501A>C)
c.*220+6043T>G (n.*220+6043T>G)
c.659T>G (p.Phe220Cys)
c.686T>G (p.Phe229Cys)
c.1541T>G (p.Phe514Cys)
c.1355T>G (p.Phe452Cys)
c.1274T>G (p.Phe425Cys)
c.980T>G (p.Phe327Cys)
c.1361T>G (p.Phe454Cys)
2g.48688181A>GCA346745817GTF2A1L,LHCGR,STON1-GTF2A1Lc.1616T>C (p.Phe539Ser)
c.948-42T>C (n.948-42T>C)
c.3441+16501A>G (n.3441+16501A>G)
c.*360T>C (n.*360T>C)
c.1535T>C (p.Phe512Ser)
c.276+16501A>G (n.276+16501A>G)
c.*220+6043T>C (n.*220+6043T>C)
c.659T>C (p.Phe220Ser)
c.686T>C (p.Phe229Ser)
c.1541T>C (p.Phe514Ser)
c.1355T>C (p.Phe452Ser)
c.1274T>C (p.Phe425Ser)
c.980T>C (p.Phe327Ser)
c.1361T>C (p.Phe454Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.48688181A>TCA346745821GTF2A1L,LHCGR,STON1-GTF2A1Lc.1616T>A (p.Phe539Tyr)
c.948-42T>A (n.948-42T>A)
c.3441+16501A>T (n.3441+16501A>T)
c.*360T>A (n.*360T>A)
c.1535T>A (p.Phe512Tyr)
c.276+16501A>T (n.276+16501A>T)
c.*220+6043T>A (n.*220+6043T>A)
c.659T>A (p.Phe220Tyr)
c.686T>A (p.Phe229Tyr)
c.1541T>A (p.Phe514Tyr)
c.1355T>A (p.Phe452Tyr)
c.1274T>A (p.Phe425Tyr)
c.980T>A (p.Phe327Tyr)
c.1361T>A (p.Phe454Tyr)
2g.48688182A>CCA346745824GTF2A1L,LHCGR,STON1-GTF2A1Lc.1615T>G (p.Phe539Val)
c.948-43T>G (n.948-43T>G)
c.3441+16502A>C (n.3441+16502A>C)
c.*359T>G (n.*359T>G)
c.1534T>G (p.Phe512Val)
c.276+16502A>C (n.276+16502A>C)
c.*220+6042T>G (n.*220+6042T>G)
c.658T>G (p.Phe220Val)
c.685T>G (p.Phe229Val)
c.1540T>G (p.Phe514Val)
c.1354T>G (p.Phe452Val)
c.1273T>G (p.Phe425Val)
c.979T>G (p.Phe327Val)
c.1360T>G (p.Phe454Val)
2g.48688182A>GCA346745832GTF2A1L,LHCGR,STON1-GTF2A1Lc.1615T>C (p.Phe539Leu)
c.948-43T>C (n.948-43T>C)
c.3441+16502A>G (n.3441+16502A>G)
c.*359T>C (n.*359T>C)
c.1534T>C (p.Phe512Leu)
c.276+16502A>G (n.276+16502A>G)
c.*220+6042T>C (n.*220+6042T>C)
c.658T>C (p.Phe220Leu)
c.685T>C (p.Phe229Leu)
c.1540T>C (p.Phe514Leu)
c.1354T>C (p.Phe452Leu)
c.1273T>C (p.Phe425Leu)
c.979T>C (p.Phe327Leu)
c.1360T>C (p.Phe454Leu)
2g.48688182A>TCA346745830GTF2A1L,LHCGR,STON1-GTF2A1Lc.1615T>A (p.Phe539Ile)
c.948-43T>A (n.948-43T>A)
c.3441+16502A>T (n.3441+16502A>T)
c.*359T>A (n.*359T>A)
c.1534T>A (p.Phe512Ile)
c.276+16502A>T (n.276+16502A>T)
c.*220+6042T>A (n.*220+6042T>A)
c.658T>A (p.Phe220Ile)
c.685T>A (p.Phe229Ile)
c.1540T>A (p.Phe514Ile)
c.1354T>A (p.Phe452Ile)
c.1273T>A (p.Phe425Ile)
c.979T>A (p.Phe327Ile)
c.1360T>A (p.Phe454Ile)
2g.48688183G>ACA426125232GTF2A1L,LHCGR,STON1-GTF2A1Lc.1614C>T (p.Ala538=)
c.948-44C>T (n.948-44C>T)
c.3441+16503G>A (n.3441+16503G>A)
c.*358C>T (n.*358C>T)
c.1533C>T (p.Ala511=)
c.276+16503G>A (n.276+16503G>A)
c.*220+6041C>T (n.*220+6041C>T)
c.657C>T (p.Ala219=)
c.684C>T (p.Ala228=)
c.1539C>T (p.Ala513=)
c.1353C>T (p.Ala451=)
c.1272C>T (p.Ala424=)
c.978C>T (p.Ala326=)
c.1359C>T (p.Ala453=)
2g.48688183G>CCA426125231GTF2A1L,LHCGR,STON1-GTF2A1Lc.1614C>G (p.Ala538=)
c.948-44C>G (n.948-44C>G)
c.3441+16503G>C (n.3441+16503G>C)
c.*358C>G (n.*358C>G)
c.1533C>G (p.Ala511=)
c.276+16503G>C (n.276+16503G>C)
c.*220+6041C>G (n.*220+6041C>G)
c.657C>G (p.Ala219=)
c.684C>G (p.Ala228=)
c.1539C>G (p.Ala513=)
c.1353C>G (p.Ala451=)
c.1272C>G (p.Ala424=)
c.978C>G (p.Ala326=)
c.1359C>G (p.Ala453=)
2g.48688183G>TCA426125230GTF2A1L,LHCGR,STON1-GTF2A1Lc.1614C>A (p.Ala538=)
c.948-44C>A (n.948-44C>A)
c.3441+16503G>T (n.3441+16503G>T)
c.*358C>A (n.*358C>A)
c.1533C>A (p.Ala511=)
c.276+16503G>T (n.276+16503G>T)
c.*220+6041C>A (n.*220+6041C>A)
c.657C>A (p.Ala219=)
c.684C>A (p.Ala228=)
c.1539C>A (p.Ala513=)
c.1353C>A (p.Ala451=)
c.1272C>A (p.Ala424=)
c.978C>A (p.Ala326=)
c.1359C>A (p.Ala453=)
2g.48688184delCA2658992083GTF2A1L,LHCGR,STON1-GTF2A1Lc.1614del (p.Phe539SerfsTer3)
c.948-44del (n.948-44del)
c.3441+16504del (n.3441+16504del)
c.*358del (n.*358del)
c.1533del (p.Phe512SerfsTer3)
c.276+16504del (n.276+16504del)
c.*220+6041del (n.*220+6041del)
c.657del (p.Phe220SerfsTer3)
c.684del (p.Phe229SerfsTer3)
c.1539del (p.Phe514SerfsTer3)
c.1353del (p.Phe452SerfsTer3)
c.1272del (p.Phe425SerfsTer3)
c.978del (p.Phe327SerfsTer3)
c.1359del (p.Phe454SerfsTer3)
 gnomAD v4
2g.48688184G>ACA346745843GTF2A1L,LHCGR,STON1-GTF2A1Lc.1613C>T (p.Ala538Val)
c.948-45C>T (n.948-45C>T)
c.3441+16504G>A (n.3441+16504G>A)
c.*357C>T (n.*357C>T)
c.1532C>T (p.Ala511Val)
c.276+16504G>A (n.276+16504G>A)
c.*220+6040C>T (n.*220+6040C>T)
c.656C>T (p.Ala219Val)
c.683C>T (p.Ala228Val)
c.1538C>T (p.Ala513Val)
c.1352C>T (p.Ala451Val)
c.1271C>T (p.Ala424Val)
c.977C>T (p.Ala326Val)
c.1358C>T (p.Ala453Val)
2g.48688184G>CCA346745849GTF2A1L,LHCGR,STON1-GTF2A1Lc.1613C>G (p.Ala538Gly)
c.948-45C>G (n.948-45C>G)
c.3441+16504G>C (n.3441+16504G>C)
c.*357C>G (n.*357C>G)
c.1532C>G (p.Ala511Gly)
c.276+16504G>C (n.276+16504G>C)
c.*220+6040C>G (n.*220+6040C>G)
c.656C>G (p.Ala219Gly)
c.683C>G (p.Ala228Gly)
c.1538C>G (p.Ala513Gly)
c.1352C>G (p.Ala451Gly)
c.1271C>G (p.Ala424Gly)
c.977C>G (p.Ala326Gly)
c.1358C>G (p.Ala453Gly)
2g.48688184G>TCA346745857GTF2A1L,LHCGR,STON1-GTF2A1Lc.1613C>A (p.Ala538Asp)
c.948-45C>A (n.948-45C>A)
c.3441+16504G>T (n.3441+16504G>T)
c.*357C>A (n.*357C>A)
c.1532C>A (p.Ala511Asp)
c.276+16504G>T (n.276+16504G>T)
c.*220+6040C>A (n.*220+6040C>A)
c.656C>A (p.Ala219Asp)
c.683C>A (p.Ala228Asp)
c.1538C>A (p.Ala513Asp)
c.1352C>A (p.Ala451Asp)
c.1271C>A (p.Ala424Asp)
c.977C>A (p.Ala326Asp)
c.1358C>A (p.Ala453Asp)
2g.48688185C>ACA346745859GTF2A1L,LHCGR,STON1-GTF2A1Lc.1612G>T (p.Ala538Ser)
c.948-46G>T (n.948-46G>T)
c.3441+16505C>A (n.3441+16505C>A)
c.*356G>T (n.*356G>T)
c.1531G>T (p.Ala511Ser)
c.276+16505C>A (n.276+16505C>A)
c.*220+6039G>T (n.*220+6039G>T)
c.655G>T (p.Ala219Ser)
c.682G>T (p.Ala228Ser)
c.1537G>T (p.Ala513Ser)
c.1351G>T (p.Ala451Ser)
c.1270G>T (p.Ala424Ser)
c.976G>T (p.Ala326Ser)
c.1357G>T (p.Ala453Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.48688185C=CA1248601022GTF2A1L,LHCGR,STON1-GTF2A1Lc.1612G= (p.Ala538=)
c.948-46G= (n.948-46G=)
c.3441+16505C= (n.3441+16505C=)
c.*356G= (n.*356G=)
c.1531G= (p.Ala511=)
c.276+16505C= (n.276+16505C=)
c.*220+6039G= (n.*220+6039G=)
c.655G= (p.Ala219=)
c.682G= (p.Ala228=)
c.1537G= (p.Ala513=)
c.1351G= (p.Ala451=)
c.1270G= (p.Ala424=)
c.976G= (p.Ala326=)
c.1357G= (p.Ala453=)
2g.48688185C>GCA346745864GTF2A1L,LHCGR,STON1-GTF2A1Lc.1612G>C (p.Ala538Pro)
c.948-46G>C (n.948-46G>C)
c.3441+16505C>G (n.3441+16505C>G)
c.*356G>C (n.*356G>C)
c.1531G>C (p.Ala511Pro)
c.276+16505C>G (n.276+16505C>G)
c.*220+6039G>C (n.*220+6039G>C)
c.655G>C (p.Ala219Pro)
c.682G>C (p.Ala228Pro)
c.1537G>C (p.Ala513Pro)
c.1351G>C (p.Ala451Pro)
c.1270G>C (p.Ala424Pro)
c.976G>C (p.Ala326Pro)
c.1357G>C (p.Ala453Pro)
 dbSNP gnomAD v3 gnomAD v4
2g.48688185C>TCA346745866GTF2A1L,LHCGR,STON1-GTF2A1Lc.1612G>A (p.Ala538Thr)
c.948-46G>A (n.948-46G>A)
c.3441+16505C>T (n.3441+16505C>T)
c.*356G>A (n.*356G>A)
c.1531G>A (p.Ala511Thr)
c.276+16505C>T (n.276+16505C>T)
c.*220+6039G>A (n.*220+6039G>A)
c.655G>A (p.Ala219Thr)
c.682G>A (p.Ala228Thr)
c.1537G>A (p.Ala513Thr)
c.1351G>A (p.Ala451Thr)
c.1270G>A (p.Ala424Thr)
c.976G>A (p.Ala326Thr)
c.1357G>A (p.Ala453Thr)
 dbSNP gnomAD v4 COSMIC
2g.48688186C>ACA426125236GTF2A1L,LHCGR,STON1-GTF2A1Lc.1611G>T (p.Val537=)
c.948-47G>T (n.948-47G>T)
c.3441+16506C>A (n.3441+16506C>A)
c.*355G>T (n.*355G>T)
c.1530G>T (p.Val510=)
c.276+16506C>A (n.276+16506C>A)
c.*220+6038G>T (n.*220+6038G>T)
c.654G>T (p.Val218=)
c.681G>T (p.Val227=)
c.1536G>T (p.Val512=)
c.1350G>T (p.Val450=)
c.1269G>T (p.Val423=)
c.975G>T (p.Val325=)
c.1356G>T (p.Val452=)
 dbSNP gnomAD v2 gnomAD v4
2g.48688186C=CA1248601023GTF2A1L,LHCGR,STON1-GTF2A1Lc.1611G= (p.Val537=)
c.948-47G= (n.948-47G=)
c.3441+16506C= (n.3441+16506C=)
c.*355G= (n.*355G=)
c.1530G= (p.Val510=)
c.276+16506C= (n.276+16506C=)
c.*220+6038G= (n.*220+6038G=)
c.654G= (p.Val218=)
c.681G= (p.Val227=)
c.1536G= (p.Val512=)
c.1350G= (p.Val450=)
c.1269G= (p.Val423=)
c.975G= (p.Val325=)
c.1356G= (p.Val452=)
2g.48688186C>GCA426125234GTF2A1L,LHCGR,STON1-GTF2A1Lc.1611G>C (p.Val537=)
c.948-47G>C (n.948-47G>C)
c.3441+16506C>G (n.3441+16506C>G)
c.*355G>C (n.*355G>C)
c.1530G>C (p.Val510=)
c.276+16506C>G (n.276+16506C>G)
c.*220+6038G>C (n.*220+6038G>C)
c.654G>C (p.Val218=)
c.681G>C (p.Val227=)
c.1536G>C (p.Val512=)
c.1350G>C (p.Val450=)
c.1269G>C (p.Val423=)
c.975G>C (p.Val325=)
c.1356G>C (p.Val452=)
2g.48688186C>TCA426125233GTF2A1L,LHCGR,STON1-GTF2A1Lc.1611G>A (p.Val537=)
c.948-47G>A (n.948-47G>A)
c.3441+16506C>T (n.3441+16506C>T)
c.*355G>A (n.*355G>A)
c.1530G>A (p.Val510=)
c.276+16506C>T (n.276+16506C>T)
c.*220+6038G>A (n.*220+6038G>A)
c.654G>A (p.Val218=)
c.681G>A (p.Val227=)
c.1536G>A (p.Val512=)
c.1350G>A (p.Val450=)
c.1269G>A (p.Val423=)
c.975G>A (p.Val325=)
c.1356G>A (p.Val452=)
 dbSNP
2g.48688187A>CCA346745870GTF2A1L,LHCGR,STON1-GTF2A1Lc.1610T>G (p.Val537Gly)
c.948-48T>G (n.948-48T>G)
c.3441+16507A>C (n.3441+16507A>C)
c.*354T>G (n.*354T>G)
c.1529T>G (p.Val510Gly)
c.276+16507A>C (n.276+16507A>C)
c.*220+6037T>G (n.*220+6037T>G)
c.653T>G (p.Val218Gly)
c.680T>G (p.Val227Gly)
c.1535T>G (p.Val512Gly)
c.1349T>G (p.Val450Gly)
c.1268T>G (p.Val423Gly)
c.974T>G (p.Val325Gly)
c.1355T>G (p.Val452Gly)
2g.48688187A>GCA346745873GTF2A1L,LHCGR,STON1-GTF2A1Lc.1610T>C (p.Val537Ala)
c.948-48T>C (n.948-48T>C)
c.3441+16507A>G (n.3441+16507A>G)
c.*354T>C (n.*354T>C)
c.1529T>C (p.Val510Ala)
c.276+16507A>G (n.276+16507A>G)
c.*220+6037T>C (n.*220+6037T>C)
c.653T>C (p.Val218Ala)
c.680T>C (p.Val227Ala)
c.1535T>C (p.Val512Ala)
c.1349T>C (p.Val450Ala)
c.1268T>C (p.Val423Ala)
c.974T>C (p.Val325Ala)
c.1355T>C (p.Val452Ala)
2g.48688187A>TCA346745877GTF2A1L,LHCGR,STON1-GTF2A1Lc.1610T>A (p.Val537Glu)
c.948-48T>A (n.948-48T>A)
c.3441+16507A>T (n.3441+16507A>T)
c.*354T>A (n.*354T>A)
c.1529T>A (p.Val510Glu)
c.276+16507A>T (n.276+16507A>T)
c.*220+6037T>A (n.*220+6037T>A)
c.653T>A (p.Val218Glu)
c.680T>A (p.Val227Glu)
c.1535T>A (p.Val512Glu)
c.1349T>A (p.Val450Glu)
c.1268T>A (p.Val423Glu)
c.974T>A (p.Val325Glu)
c.1355T>A (p.Val452Glu)
2g.48688188C>ACA346745884GTF2A1L,LHCGR,STON1-GTF2A1Lc.1609G>T (p.Val537Leu)
c.948-49G>T (n.948-49G>T)
c.3441+16508C>A (n.3441+16508C>A)
c.*353G>T (n.*353G>T)
c.1528G>T (p.Val510Leu)
c.276+16508C>A (n.276+16508C>A)
c.*220+6036G>T (n.*220+6036G>T)
c.652G>T (p.Val218Leu)
c.679G>T (p.Val227Leu)
c.1534G>T (p.Val512Leu)
c.1348G>T (p.Val450Leu)
c.1267G>T (p.Val423Leu)
c.973G>T (p.Val325Leu)
c.1354G>T (p.Val452Leu)
2g.48688188C=CA1248601024GTF2A1L,LHCGR,STON1-GTF2A1Lc.1609G= (p.Val537=)
c.948-49G= (n.948-49G=)
c.3441+16508C= (n.3441+16508C=)
c.*353G= (n.*353G=)
c.1528G= (p.Val510=)
c.276+16508C= (n.276+16508C=)
c.*220+6036G= (n.*220+6036G=)
c.652G= (p.Val218=)
c.679G= (p.Val227=)
c.1534G= (p.Val512=)
c.1348G= (p.Val450=)
c.1267G= (p.Val423=)
c.973G= (p.Val325=)
c.1354G= (p.Val452=)
2g.48688188C>GCA346745889GTF2A1L,LHCGR,STON1-GTF2A1Lc.1609G>C (p.Val537Leu)
c.948-49G>C (n.948-49G>C)
c.3441+16508C>G (n.3441+16508C>G)
c.*353G>C (n.*353G>C)
c.1528G>C (p.Val510Leu)
c.276+16508C>G (n.276+16508C>G)
c.*220+6036G>C (n.*220+6036G>C)
c.652G>C (p.Val218Leu)
c.679G>C (p.Val227Leu)
c.1534G>C (p.Val512Leu)
c.1348G>C (p.Val450Leu)
c.1267G>C (p.Val423Leu)
c.973G>C (p.Val325Leu)
c.1354G>C (p.Val452Leu)
 dbSNP gnomAD v3 gnomAD v4
2g.48688188C>TCA1653011GTF2A1L,LHCGR,STON1-GTF2A1Lc.1609G>A (p.Val537Met)
c.948-49G>A (n.948-49G>A)
c.3441+16508C>T (n.3441+16508C>T)
c.*353G>A (n.*353G>A)
c.1528G>A (p.Val510Met)
c.276+16508C>T (n.276+16508C>T)
c.*220+6036G>A (n.*220+6036G>A)
c.652G>A (p.Val218Met)
c.679G>A (p.Val227Met)
c.1534G>A (p.Val512Met)
c.1348G>A (p.Val450Met)
c.1267G>A (p.Val423Met)
c.973G>A (p.Val325Met)
c.1354G>A (p.Val452Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688189C>ACA426125247GTF2A1L,LHCGR,STON1-GTF2A1Lc.1608G>T (p.Val536=)
c.948-50G>T (n.948-50G>T)
c.3441+16509C>A (n.3441+16509C>A)
c.*352G>T (n.*352G>T)
c.1527G>T (p.Val509=)
c.276+16509C>A (n.276+16509C>A)
c.*220+6035G>T (n.*220+6035G>T)
c.651G>T (p.Val217=)
c.678G>T (p.Val226=)
c.1533G>T (p.Val511=)
c.1347G>T (p.Val449=)
c.1266G>T (p.Val422=)
c.972G>T (p.Val324=)
c.1353G>T (p.Val451=)
 gnomAD v4
2g.48688189C=CA1248601025GTF2A1L,LHCGR,STON1-GTF2A1Lc.1608G= (p.Val536=)
c.948-50G= (n.948-50G=)
c.3441+16509C= (n.3441+16509C=)
c.*352G= (n.*352G=)
c.1527G= (p.Val509=)
c.276+16509C= (n.276+16509C=)
c.*220+6035G= (n.*220+6035G=)
c.651G= (p.Val217=)
c.678G= (p.Val226=)
c.1533G= (p.Val511=)
c.1347G= (p.Val449=)
c.1266G= (p.Val422=)
c.972G= (p.Val324=)
c.1353G= (p.Val451=)
2g.48688189C>GCA426125251GTF2A1L,LHCGR,STON1-GTF2A1Lc.1608G>C (p.Val536=)
c.948-50G>C (n.948-50G>C)
c.3441+16509C>G (n.3441+16509C>G)
c.*352G>C (n.*352G>C)
c.1527G>C (p.Val509=)
c.276+16509C>G (n.276+16509C>G)
c.*220+6035G>C (n.*220+6035G>C)
c.651G>C (p.Val217=)
c.678G>C (p.Val226=)
c.1533G>C (p.Val511=)
c.1347G>C (p.Val449=)
c.1266G>C (p.Val422=)
c.972G>C (p.Val324=)
c.1353G>C (p.Val451=)
2g.48688189C>TCA46752892GTF2A1L,LHCGR,STON1-GTF2A1Lc.1608G>A (p.Val536=)
c.948-50G>A (n.948-50G>A)
c.3441+16509C>T (n.3441+16509C>T)
c.*352G>A (n.*352G>A)
c.1527G>A (p.Val509=)
c.276+16509C>T (n.276+16509C>T)
c.*220+6035G>A (n.*220+6035G>A)
c.651G>A (p.Val217=)
c.678G>A (p.Val226=)
c.1533G>A (p.Val511=)
c.1347G>A (p.Val449=)
c.1266G>A (p.Val422=)
c.972G>A (p.Val324=)
c.1353G>A (p.Val451=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48688190A>CCA346745900GTF2A1L,LHCGR,STON1-GTF2A1Lc.1607T>G (p.Val536Gly)
c.948-51T>G (n.948-51T>G)
c.3441+16510A>C (n.3441+16510A>C)
c.*351T>G (n.*351T>G)
c.1526T>G (p.Val509Gly)
c.276+16510A>C (n.276+16510A>C)
c.*220+6034T>G (n.*220+6034T>G)
c.650T>G (p.Val217Gly)
c.677T>G (p.Val226Gly)
c.1532T>G (p.Val511Gly)
c.1346T>G (p.Val449Gly)
c.1265T>G (p.Val422Gly)
c.971T>G (p.Val324Gly)
c.1352T>G (p.Val451Gly)
2g.48688190A>GCA346745901GTF2A1L,LHCGR,STON1-GTF2A1Lc.1607T>C (p.Val536Ala)
c.948-51T>C (n.948-51T>C)
c.3441+16510A>G (n.3441+16510A>G)
c.*351T>C (n.*351T>C)
c.1526T>C (p.Val509Ala)
c.276+16510A>G (n.276+16510A>G)
c.*220+6034T>C (n.*220+6034T>C)
c.650T>C (p.Val217Ala)
c.677T>C (p.Val226Ala)
c.1532T>C (p.Val511Ala)
c.1346T>C (p.Val449Ala)
c.1265T>C (p.Val422Ala)
c.971T>C (p.Val324Ala)
c.1352T>C (p.Val451Ala)
2g.48688190A>TCA346745902GTF2A1L,LHCGR,STON1-GTF2A1Lc.1607T>A (p.Val536Glu)
c.948-51T>A (n.948-51T>A)
c.3441+16510A>T (n.3441+16510A>T)
c.*351T>A (n.*351T>A)
c.1526T>A (p.Val509Glu)
c.276+16510A>T (n.276+16510A>T)
c.*220+6034T>A (n.*220+6034T>A)
c.650T>A (p.Val217Glu)
c.677T>A (p.Val226Glu)
c.1532T>A (p.Val511Glu)
c.1346T>A (p.Val449Glu)
c.1265T>A (p.Val422Glu)
c.971T>A (p.Val324Glu)
c.1352T>A (p.Val451Glu)
2g.48688191C>ACA346745903GTF2A1L,LHCGR,STON1-GTF2A1Lc.1606G>T (p.Val536Leu)
c.948-52G>T (n.948-52G>T)
c.3441+16511C>A (n.3441+16511C>A)
c.*350G>T (n.*350G>T)
c.1525G>T (p.Val509Leu)
c.276+16511C>A (n.276+16511C>A)
c.*220+6033G>T (n.*220+6033G>T)
c.649G>T (p.Val217Leu)
c.676G>T (p.Val226Leu)
c.1531G>T (p.Val511Leu)
c.1345G>T (p.Val449Leu)
c.1264G>T (p.Val422Leu)
c.970G>T (p.Val324Leu)
c.1351G>T (p.Val451Leu)
2g.48688191C>GCA346745904GTF2A1L,LHCGR,STON1-GTF2A1Lc.1606G>C (p.Val536Leu)
c.948-52G>C (n.948-52G>C)
c.3441+16511C>G (n.3441+16511C>G)
c.*350G>C (n.*350G>C)
c.1525G>C (p.Val509Leu)
c.276+16511C>G (n.276+16511C>G)
c.*220+6033G>C (n.*220+6033G>C)
c.649G>C (p.Val217Leu)
c.676G>C (p.Val226Leu)
c.1531G>C (p.Val511Leu)
c.1345G>C (p.Val449Leu)
c.1264G>C (p.Val422Leu)
c.970G>C (p.Val324Leu)
c.1351G>C (p.Val451Leu)
2g.48688191C>TCA346745905GTF2A1L,LHCGR,STON1-GTF2A1Lc.1606G>A (p.Val536Met)
c.948-52G>A (n.948-52G>A)
c.3441+16511C>T (n.3441+16511C>T)
c.*350G>A (n.*350G>A)
c.1525G>A (p.Val509Met)
c.276+16511C>T (n.276+16511C>T)
c.*220+6033G>A (n.*220+6033G>A)
c.649G>A (p.Val217Met)
c.676G>A (p.Val226Met)
c.1531G>A (p.Val511Met)
c.1345G>A (p.Val449Met)
c.1264G>A (p.Val422Met)
c.970G>A (p.Val324Met)
c.1351G>A (p.Val451Met)
 gnomAD v4
2g.48688191_48688192delinsCACA1248601026GTF2A1L,LHCGR,STON1-GTF2A1Lc.1605_1606delinsTG (p.Asn535=)
c.948-53_948-52delinsTG (n.948-53_948-52delinsTG)
c.3441+16511_3441+16512delinsCA (n.3441+16511_3441+16512delinsCA)
c.*349_*350delinsTG (n.*349_*350delinsTG)
c.1524_1525delinsTG (p.Asn508=)
c.276+16511_276+16512delinsCA (n.276+16511_276+16512delinsCA)
c.*220+6032_*220+6033delinsTG (n.*220+6032_*220+6033delinsTG)
c.648_649delinsTG (p.Asn216=)
c.675_676delinsTG (p.Asn225=)
c.1530_1531delinsTG (p.Asn510=)
c.1344_1345delinsTG (p.Asn448=)
c.1263_1264delinsTG (p.Asn421=)
c.969_970delinsTG (p.Asn323=)
c.1350_1351delinsTG (p.Asn450=)
2g.48688192delCA532706165GTF2A1L,LHCGR,STON1-GTF2A1Lc.1605del (p.Asn535LysfsTer7)
c.948-53del (n.948-53del)
c.3441+16512del (n.3441+16512del)
c.*349del (n.*349del)
c.1524del (p.Asn508LysfsTer7)
c.276+16512del (n.276+16512del)
c.*220+6032del (n.*220+6032del)
c.648del (p.Asn216LysfsTer7)
c.675del (p.Asn225LysfsTer7)
c.1530del (p.Asn510LysfsTer7)
c.1344del (p.Asn448LysfsTer7)
c.1263del (p.Asn421LysfsTer7)
c.969del (p.Asn323LysfsTer7)
c.1350del (p.Asn450LysfsTer7)
 dbSNP gnomAD v2 gnomAD v4
2g.48688192A=CA1248601027GTF2A1L,LHCGR,STON1-GTF2A1Lc.1605T= (p.Asn535=)
c.948-53T= (n.948-53T=)
c.3441+16512A= (n.3441+16512A=)
c.*349T= (n.*349T=)
c.1524T= (p.Asn508=)
c.276+16512A= (n.276+16512A=)
c.*220+6032T= (n.*220+6032T=)
c.648T= (p.Asn216=)
c.675T= (p.Asn225=)
c.1530T= (p.Asn510=)
c.1344T= (p.Asn448=)
c.1263T= (p.Asn421=)
c.969T= (p.Asn323=)
c.1350T= (p.Asn450=)
2g.48688192A>CCA346745906GTF2A1L,LHCGR,STON1-GTF2A1Lc.1605T>G (p.Asn535Lys)
c.948-53T>G (n.948-53T>G)
c.3441+16512A>C (n.3441+16512A>C)
c.*349T>G (n.*349T>G)
c.1524T>G (p.Asn508Lys)
c.276+16512A>C (n.276+16512A>C)
c.*220+6032T>G (n.*220+6032T>G)
c.648T>G (p.Asn216Lys)
c.675T>G (p.Asn225Lys)
c.1530T>G (p.Asn510Lys)
c.1344T>G (p.Asn448Lys)
c.1263T>G (p.Asn421Lys)
c.969T>G (p.Asn323Lys)
c.1350T>G (p.Asn450Lys)
 dbSNP
2g.48688192A>GCA426125255GTF2A1L,LHCGR,STON1-GTF2A1Lc.1605T>C (p.Asn535=)
c.948-53T>C (n.948-53T>C)
c.3441+16512A>G (n.3441+16512A>G)
c.*349T>C (n.*349T>C)
c.1524T>C (p.Asn508=)
c.276+16512A>G (n.276+16512A>G)
c.*220+6032T>C (n.*220+6032T>C)
c.648T>C (p.Asn216=)
c.675T>C (p.Asn225=)
c.1530T>C (p.Asn510=)
c.1344T>C (p.Asn448=)
c.1263T>C (p.Asn421=)
c.969T>C (p.Asn323=)
c.1350T>C (p.Asn450=)
 dbSNP gnomAD v2 gnomAD v4
2g.48688192A>TCA346745907GTF2A1L,LHCGR,STON1-GTF2A1Lc.1605T>A (p.Asn535Lys)
c.948-53T>A (n.948-53T>A)
c.3441+16512A>T (n.3441+16512A>T)
c.*349T>A (n.*349T>A)
c.1524T>A (p.Asn508Lys)
c.276+16512A>T (n.276+16512A>T)
c.*220+6032T>A (n.*220+6032T>A)
c.648T>A (p.Asn216Lys)
c.675T>A (p.Asn225Lys)
c.1530T>A (p.Asn510Lys)
c.1344T>A (p.Asn448Lys)
c.1263T>A (p.Asn421Lys)
c.969T>A (p.Asn323Lys)
c.1350T>A (p.Asn450Lys)
2g.48688193T>ACA346745909GTF2A1L,LHCGR,STON1-GTF2A1Lc.1604A>T (p.Asn535Ile)
c.948-54A>T (n.948-54A>T)
c.3441+16513T>A (n.3441+16513T>A)
c.*348A>T (n.*348A>T)
c.1523A>T (p.Asn508Ile)
c.276+16513T>A (n.276+16513T>A)
c.*220+6031A>T (n.*220+6031A>T)
c.647A>T (p.Asn216Ile)
c.674A>T (p.Asn225Ile)
c.1529A>T (p.Asn510Ile)
c.1343A>T (p.Asn448Ile)
c.1262A>T (p.Asn421Ile)
c.968A>T (p.Asn323Ile)
c.1349A>T (p.Asn450Ile)
2g.48688193T>CCA346745916GTF2A1L,LHCGR,STON1-GTF2A1Lc.1604A>G (p.Asn535Ser)
c.948-54A>G (n.948-54A>G)
c.3441+16513T>C (n.3441+16513T>C)
c.*348A>G (n.*348A>G)
c.1523A>G (p.Asn508Ser)
c.276+16513T>C (n.276+16513T>C)
c.*220+6031A>G (n.*220+6031A>G)
c.647A>G (p.Asn216Ser)
c.674A>G (p.Asn225Ser)
c.1529A>G (p.Asn510Ser)
c.1343A>G (p.Asn448Ser)
c.1262A>G (p.Asn421Ser)
c.968A>G (p.Asn323Ser)
c.1349A>G (p.Asn450Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48688193T>GCA346745918GTF2A1L,LHCGR,STON1-GTF2A1Lc.1604A>C (p.Asn535Thr)
c.948-54A>C (n.948-54A>C)
c.3441+16513T>G (n.3441+16513T>G)
c.*348A>C (n.*348A>C)
c.1523A>C (p.Asn508Thr)
c.276+16513T>G (n.276+16513T>G)
c.*220+6031A>C (n.*220+6031A>C)
c.647A>C (p.Asn216Thr)
c.674A>C (p.Asn225Thr)
c.1529A>C (p.Asn510Thr)
c.1343A>C (p.Asn448Thr)
c.1262A>C (p.Asn421Thr)
c.968A>C (p.Asn323Thr)
c.1349A>C (p.Asn450Thr)
2g.48688193T=CA1248601028GTF2A1L,LHCGR,STON1-GTF2A1Lc.1604A= (p.Asn535=)
c.948-54A= (n.948-54A=)
c.3441+16513T= (n.3441+16513T=)
c.*348A= (n.*348A=)
c.1523A= (p.Asn508=)
c.276+16513T= (n.276+16513T=)
c.*220+6031A= (n.*220+6031A=)
c.647A= (p.Asn216=)
c.674A= (p.Asn225=)
c.1529A= (p.Asn510=)
c.1343A= (p.Asn448=)
c.1262A= (p.Asn421=)
c.968A= (p.Asn323=)
c.1349A= (p.Asn450=)
2g.48688194T>ACA346745924GTF2A1L,LHCGR,STON1-GTF2A1Lc.1603A>T (p.Asn535Tyr)
c.948-55A>T (n.948-55A>T)
c.3441+16514T>A (n.3441+16514T>A)
c.*347A>T (n.*347A>T)
c.1522A>T (p.Asn508Tyr)
c.276+16514T>A (n.276+16514T>A)
c.*220+6030A>T (n.*220+6030A>T)
c.646A>T (p.Asn216Tyr)
c.673A>T (p.Asn225Tyr)
c.1528A>T (p.Asn510Tyr)
c.1342A>T (p.Asn448Tyr)
c.1261A>T (p.Asn421Tyr)
c.967A>T (p.Asn323Tyr)
c.1348A>T (p.Asn450Tyr)
2g.48688194T>CCA346745922GTF2A1L,LHCGR,STON1-GTF2A1Lc.1603A>G (p.Asn535Asp)
c.948-55A>G (n.948-55A>G)
c.3441+16514T>C (n.3441+16514T>C)
c.*347A>G (n.*347A>G)
c.1522A>G (p.Asn508Asp)
c.276+16514T>C (n.276+16514T>C)
c.*220+6030A>G (n.*220+6030A>G)
c.646A>G (p.Asn216Asp)
c.673A>G (p.Asn225Asp)
c.1528A>G (p.Asn510Asp)
c.1342A>G (p.Asn448Asp)
c.1261A>G (p.Asn421Asp)
c.967A>G (p.Asn323Asp)
c.1348A>G (p.Asn450Asp)
2g.48688194T>GCA346745920GTF2A1L,LHCGR,STON1-GTF2A1Lc.1603A>C (p.Asn535His)
c.948-55A>C (n.948-55A>C)
c.3441+16514T>G (n.3441+16514T>G)
c.*347A>C (n.*347A>C)
c.1522A>C (p.Asn508His)
c.276+16514T>G (n.276+16514T>G)
c.*220+6030A>C (n.*220+6030A>C)
c.646A>C (p.Asn216His)
c.673A>C (p.Asn225His)
c.1528A>C (p.Asn510His)
c.1342A>C (p.Asn448His)
c.1261A>C (p.Asn421His)
c.967A>C (p.Asn323His)
c.1348A>C (p.Asn450His)
 gnomAD v4
2g.48688195G>ACA426125262GTF2A1L,LHCGR,STON1-GTF2A1Lc.1602C>T (p.Leu534=)
c.948-56C>T (n.948-56C>T)
c.3441+16515G>A (n.3441+16515G>A)
c.*346C>T (n.*346C>T)
c.1521C>T (p.Leu507=)
c.276+16515G>A (n.276+16515G>A)
c.*220+6029C>T (n.*220+6029C>T)
c.645C>T (p.Leu215=)
c.672C>T (p.Leu224=)
c.1527C>T (p.Leu509=)
c.1341C>T (p.Leu447=)
c.1260C>T (p.Leu420=)
c.966C>T (p.Leu322=)
c.1347C>T (p.Leu449=)
2g.48688195G>CCA426125267GTF2A1L,LHCGR,STON1-GTF2A1Lc.1602C>G (p.Leu534=)
c.948-56C>G (n.948-56C>G)
c.3441+16515G>C (n.3441+16515G>C)
c.*346C>G (n.*346C>G)
c.1521C>G (p.Leu507=)
c.276+16515G>C (n.276+16515G>C)
c.*220+6029C>G (n.*220+6029C>G)
c.645C>G (p.Leu215=)
c.672C>G (p.Leu224=)
c.1527C>G (p.Leu509=)
c.1341C>G (p.Leu447=)
c.1260C>G (p.Leu420=)
c.966C>G (p.Leu322=)
c.1347C>G (p.Leu449=)
2g.48688195G>TCA426125270GTF2A1L,LHCGR,STON1-GTF2A1Lc.1602C>A (p.Leu534=)
c.948-56C>A (n.948-56C>A)
c.3441+16515G>T (n.3441+16515G>T)
c.*346C>A (n.*346C>A)
c.1521C>A (p.Leu507=)
c.276+16515G>T (n.276+16515G>T)
c.*220+6029C>A (n.*220+6029C>A)
c.645C>A (p.Leu215=)
c.672C>A (p.Leu224=)
c.1527C>A (p.Leu509=)
c.1341C>A (p.Leu447=)
c.1260C>A (p.Leu420=)
c.966C>A (p.Leu322=)
c.1347C>A (p.Leu449=)
2g.48688196A>CCA346745926GTF2A1L,LHCGR,STON1-GTF2A1Lc.1601T>G (p.Leu534Arg)
c.948-57T>G (n.948-57T>G)
c.3441+16516A>C (n.3441+16516A>C)
c.*345T>G (n.*345T>G)
c.1520T>G (p.Leu507Arg)
c.276+16516A>C (n.276+16516A>C)
c.*220+6028T>G (n.*220+6028T>G)
c.644T>G (p.Leu215Arg)
c.671T>G (p.Leu224Arg)
c.1526T>G (p.Leu509Arg)
c.1340T>G (p.Leu447Arg)
c.1259T>G (p.Leu420Arg)
c.965T>G (p.Leu322Arg)
c.1346T>G (p.Leu449Arg)
2g.48688196A>GCA346745928GTF2A1L,LHCGR,STON1-GTF2A1Lc.1601T>C (p.Leu534Pro)
c.948-57T>C (n.948-57T>C)
c.3441+16516A>G (n.3441+16516A>G)
c.*345T>C (n.*345T>C)
c.1520T>C (p.Leu507Pro)
c.276+16516A>G (n.276+16516A>G)
c.*220+6028T>C (n.*220+6028T>C)
c.644T>C (p.Leu215Pro)
c.671T>C (p.Leu224Pro)
c.1526T>C (p.Leu509Pro)
c.1340T>C (p.Leu447Pro)
c.1259T>C (p.Leu420Pro)
c.965T>C (p.Leu322Pro)
c.1346T>C (p.Leu449Pro)
2g.48688196A>TCA346745933GTF2A1L,LHCGR,STON1-GTF2A1Lc.1601T>A (p.Leu534His)
c.948-57T>A (n.948-57T>A)
c.3441+16516A>T (n.3441+16516A>T)
c.*345T>A (n.*345T>A)
c.1520T>A (p.Leu507His)
c.276+16516A>T (n.276+16516A>T)
c.*220+6028T>A (n.*220+6028T>A)
c.644T>A (p.Leu215His)
c.671T>A (p.Leu224His)
c.1526T>A (p.Leu509His)
c.1340T>A (p.Leu447His)
c.1259T>A (p.Leu420His)
c.965T>A (p.Leu322His)
c.1346T>A (p.Leu449His)
2g.48688197G>ACA1653012GTF2A1L,LHCGR,STON1-GTF2A1Lc.1600C>T (p.Leu534Phe)
c.948-58C>T (n.948-58C>T)
c.3441+16517G>A (n.3441+16517G>A)
c.*344C>T (n.*344C>T)
c.1519C>T (p.Leu507Phe)
c.276+16517G>A (n.276+16517G>A)
c.*220+6027C>T (n.*220+6027C>T)
c.643C>T (p.Leu215Phe)
c.670C>T (p.Leu224Phe)
c.1525C>T (p.Leu509Phe)
c.1339C>T (p.Leu447Phe)
c.1258C>T (p.Leu420Phe)
c.964C>T (p.Leu322Phe)
c.1345C>T (p.Leu449Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688197G>CCA346745936GTF2A1L,LHCGR,STON1-GTF2A1Lc.1600C>G (p.Leu534Val)
c.948-58C>G (n.948-58C>G)
c.3441+16517G>C (n.3441+16517G>C)
c.*344C>G (n.*344C>G)
c.1519C>G (p.Leu507Val)
c.276+16517G>C (n.276+16517G>C)
c.*220+6027C>G (n.*220+6027C>G)
c.643C>G (p.Leu215Val)
c.670C>G (p.Leu224Val)
c.1525C>G (p.Leu509Val)
c.1339C>G (p.Leu447Val)
c.1258C>G (p.Leu420Val)
c.964C>G (p.Leu322Val)
c.1345C>G (p.Leu449Val)
2g.48688197G=CA1248601029GTF2A1L,LHCGR,STON1-GTF2A1Lc.1600C= (p.Leu534=)
c.948-58C= (n.948-58C=)
c.3441+16517G= (n.3441+16517G=)
c.*344C= (n.*344C=)
c.1519C= (p.Leu507=)
c.276+16517G= (n.276+16517G=)
c.*220+6027C= (n.*220+6027C=)
c.643C= (p.Leu215=)
c.670C= (p.Leu224=)
c.1525C= (p.Leu509=)
c.1339C= (p.Leu447=)
c.1258C= (p.Leu420=)
c.964C= (p.Leu322=)
c.1345C= (p.Leu449=)
2g.48688197G>TCA346745937GTF2A1L,LHCGR,STON1-GTF2A1Lc.1600C>A (p.Leu534Ile)
c.948-58C>A (n.948-58C>A)
c.3441+16517G>T (n.3441+16517G>T)
c.*344C>A (n.*344C>A)
c.1519C>A (p.Leu507Ile)
c.276+16517G>T (n.276+16517G>T)
c.*220+6027C>A (n.*220+6027C>A)
c.643C>A (p.Leu215Ile)
c.670C>A (p.Leu224Ile)
c.1525C>A (p.Leu509Ile)
c.1339C>A (p.Leu447Ile)
c.1258C>A (p.Leu420Ile)
c.964C>A (p.Leu322Ile)
c.1345C>A (p.Leu449Ile)
2g.48688198A>CCA346745938GTF2A1L,LHCGR,STON1-GTF2A1Lc.1599T>G (p.Ile533Met)
c.948-59T>G (n.948-59T>G)
c.3441+16518A>C (n.3441+16518A>C)
c.*343T>G (n.*343T>G)
c.1518T>G (p.Ile506Met)
c.276+16518A>C (n.276+16518A>C)
c.*220+6026T>G (n.*220+6026T>G)
c.642T>G (p.Ile214Met)
c.669T>G (p.Ile223Met)
c.1524T>G (p.Ile508Met)
c.1338T>G (p.Ile446Met)
c.1257T>G (p.Ile419Met)
c.963T>G (p.Ile321Met)
c.1344T>G (p.Ile448Met)
2g.48688198A>GCA426125277GTF2A1L,LHCGR,STON1-GTF2A1Lc.1599T>C (p.Ile533=)
c.948-59T>C (n.948-59T>C)
c.3441+16518A>G (n.3441+16518A>G)
c.*343T>C (n.*343T>C)
c.1518T>C (p.Ile506=)
c.276+16518A>G (n.276+16518A>G)
c.*220+6026T>C (n.*220+6026T>C)
c.642T>C (p.Ile214=)
c.669T>C (p.Ile223=)
c.1524T>C (p.Ile508=)
c.1338T>C (p.Ile446=)
c.1257T>C (p.Ile419=)
c.963T>C (p.Ile321=)
c.1344T>C (p.Ile448=)
2g.48688198A>TCA426125279GTF2A1L,LHCGR,STON1-GTF2A1Lc.1599T>A (p.Ile533=)
c.948-59T>A (n.948-59T>A)
c.3441+16518A>T (n.3441+16518A>T)
c.*343T>A (n.*343T>A)
c.1518T>A (p.Ile506=)
c.276+16518A>T (n.276+16518A>T)
c.*220+6026T>A (n.*220+6026T>A)
c.642T>A (p.Ile214=)
c.669T>A (p.Ile223=)
c.1524T>A (p.Ile508=)
c.1338T>A (p.Ile446=)
c.1257T>A (p.Ile419=)
c.963T>A (p.Ile321=)
c.1344T>A (p.Ile448=)
2g.48688199A>CCA346745940GTF2A1L,LHCGR,STON1-GTF2A1Lc.1598T>G (p.Ile533Ser)
c.948-60T>G (n.948-60T>G)
c.3441+16519A>C (n.3441+16519A>C)
c.*342T>G (n.*342T>G)
c.1517T>G (p.Ile506Ser)
c.276+16519A>C (n.276+16519A>C)
c.*220+6025T>G (n.*220+6025T>G)
c.641T>G (p.Ile214Ser)
c.668T>G (p.Ile223Ser)
c.1523T>G (p.Ile508Ser)
c.1337T>G (p.Ile446Ser)
c.1256T>G (p.Ile419Ser)
c.962T>G (p.Ile321Ser)
c.1343T>G (p.Ile448Ser)
2g.48688199A>GCA346745942GTF2A1L,LHCGR,STON1-GTF2A1Lc.1598T>C (p.Ile533Thr)
c.948-60T>C (n.948-60T>C)
c.3441+16519A>G (n.3441+16519A>G)
c.*342T>C (n.*342T>C)
c.1517T>C (p.Ile506Thr)
c.276+16519A>G (n.276+16519A>G)
c.*220+6025T>C (n.*220+6025T>C)
c.641T>C (p.Ile214Thr)
c.668T>C (p.Ile223Thr)
c.1523T>C (p.Ile508Thr)
c.1337T>C (p.Ile446Thr)
c.1256T>C (p.Ile419Thr)
c.962T>C (p.Ile321Thr)
c.1343T>C (p.Ile448Thr)
2g.48688199A>TCA346745945GTF2A1L,LHCGR,STON1-GTF2A1Lc.1598T>A (p.Ile533Asn)
c.948-60T>A (n.948-60T>A)
c.3441+16519A>T (n.3441+16519A>T)
c.*342T>A (n.*342T>A)
c.1517T>A (p.Ile506Asn)
c.276+16519A>T (n.276+16519A>T)
c.*220+6025T>A (n.*220+6025T>A)
c.641T>A (p.Ile214Asn)
c.668T>A (p.Ile223Asn)
c.1523T>A (p.Ile508Asn)
c.1337T>A (p.Ile446Asn)
c.1256T>A (p.Ile419Asn)
c.962T>A (p.Ile321Asn)
c.1343T>A (p.Ile448Asn)
2g.48688200T>ACA346745950GTF2A1L,LHCGR,STON1-GTF2A1Lc.1597A>T (p.Ile533Phe)
c.948-61A>T (n.948-61A>T)
c.3441+16520T>A (n.3441+16520T>A)
c.*341A>T (n.*341A>T)
c.1516A>T (p.Ile506Phe)
c.276+16520T>A (n.276+16520T>A)
c.*220+6024A>T (n.*220+6024A>T)
c.640A>T (p.Ile214Phe)
c.667A>T (p.Ile223Phe)
c.1522A>T (p.Ile508Phe)
c.1336A>T (p.Ile446Phe)
c.1255A>T (p.Ile419Phe)
c.961A>T (p.Ile321Phe)
c.1342A>T (p.Ile448Phe)
2g.48688200T>CCA346745965GTF2A1L,LHCGR,STON1-GTF2A1Lc.1597A>G (p.Ile533Val)
c.948-61A>G (n.948-61A>G)
c.3441+16520T>C (n.3441+16520T>C)
c.*341A>G (n.*341A>G)
c.1516A>G (p.Ile506Val)
c.276+16520T>C (n.276+16520T>C)
c.*220+6024A>G (n.*220+6024A>G)
c.640A>G (p.Ile214Val)
c.667A>G (p.Ile223Val)
c.1522A>G (p.Ile508Val)
c.1336A>G (p.Ile446Val)
c.1255A>G (p.Ile419Val)
c.961A>G (p.Ile321Val)
c.1342A>G (p.Ile448Val)
2g.48688200T>GCA346745975GTF2A1L,LHCGR,STON1-GTF2A1Lc.1597A>C (p.Ile533Leu)
c.948-61A>C (n.948-61A>C)
c.3441+16520T>G (n.3441+16520T>G)
c.*341A>C (n.*341A>C)
c.1516A>C (p.Ile506Leu)
c.276+16520T>G (n.276+16520T>G)
c.*220+6024A>C (n.*220+6024A>C)
c.640A>C (p.Ile214Leu)
c.667A>C (p.Ile223Leu)
c.1522A>C (p.Ile508Leu)
c.1336A>C (p.Ile446Leu)
c.1255A>C (p.Ile419Leu)
c.961A>C (p.Ile321Leu)
c.1342A>C (p.Ile448Leu)
2g.48688201C>ACA426125288GTF2A1L,LHCGR,STON1-GTF2A1Lc.1596G>T (p.Leu532=)
c.948-62G>T (n.948-62G>T)
c.3441+16521C>A (n.3441+16521C>A)
c.*340G>T (n.*340G>T)
c.1515G>T (p.Leu505=)
c.276+16521C>A (n.276+16521C>A)
c.*220+6023G>T (n.*220+6023G>T)
c.639G>T (p.Leu213=)
c.666G>T (p.Leu222=)
c.1521G>T (p.Leu507=)
c.1335G>T (p.Leu445=)
c.1254G>T (p.Leu418=)
c.960G>T (p.Leu320=)
c.1341G>T (p.Leu447=)
 dbSNP gnomAD v3 gnomAD v4
2g.48688201C=CA1248601030GTF2A1L,LHCGR,STON1-GTF2A1Lc.1596G= (p.Leu532=)
c.948-62G= (n.948-62G=)
c.3441+16521C= (n.3441+16521C=)
c.*340G= (n.*340G=)
c.1515G= (p.Leu505=)
c.276+16521C= (n.276+16521C=)
c.*220+6023G= (n.*220+6023G=)
c.639G= (p.Leu213=)
c.666G= (p.Leu222=)
c.1521G= (p.Leu507=)
c.1335G= (p.Leu445=)
c.1254G= (p.Leu418=)
c.960G= (p.Leu320=)
c.1341G= (p.Leu447=)
2g.48688201C>GCA426125290GTF2A1L,LHCGR,STON1-GTF2A1Lc.1596G>C (p.Leu532=)
c.948-62G>C (n.948-62G>C)
c.3441+16521C>G (n.3441+16521C>G)
c.*340G>C (n.*340G>C)
c.1515G>C (p.Leu505=)
c.276+16521C>G (n.276+16521C>G)
c.*220+6023G>C (n.*220+6023G>C)
c.639G>C (p.Leu213=)
c.666G>C (p.Leu222=)
c.1521G>C (p.Leu507=)
c.1335G>C (p.Leu445=)
c.1254G>C (p.Leu418=)
c.960G>C (p.Leu320=)
c.1341G>C (p.Leu447=)
2g.48688201C>TCA426125292GTF2A1L,LHCGR,STON1-GTF2A1Lc.1596G>A (p.Leu532=)
c.948-62G>A (n.948-62G>A)
c.3441+16521C>T (n.3441+16521C>T)
c.*340G>A (n.*340G>A)
c.1515G>A (p.Leu505=)
c.276+16521C>T (n.276+16521C>T)
c.*220+6023G>A (n.*220+6023G>A)
c.639G>A (p.Leu213=)
c.666G>A (p.Leu222=)
c.1521G>A (p.Leu507=)
c.1335G>A (p.Leu445=)
c.1254G>A (p.Leu418=)
c.960G>A (p.Leu320=)
c.1341G>A (p.Leu447=)
2g.48688202A>CCA346745987GTF2A1L,LHCGR,STON1-GTF2A1Lc.1595T>G (p.Leu532Arg)
c.948-63T>G (n.948-63T>G)
c.3441+16522A>C (n.3441+16522A>C)
c.*339T>G (n.*339T>G)
c.1514T>G (p.Leu505Arg)
c.276+16522A>C (n.276+16522A>C)
c.*220+6022T>G (n.*220+6022T>G)
c.638T>G (p.Leu213Arg)
c.665T>G (p.Leu222Arg)
c.1520T>G (p.Leu507Arg)
c.1334T>G (p.Leu445Arg)
c.1253T>G (p.Leu418Arg)
c.959T>G (p.Leu320Arg)
c.1340T>G (p.Leu447Arg)
2g.48688202A>GCA346745988GTF2A1L,LHCGR,STON1-GTF2A1Lc.1595T>C (p.Leu532Pro)
c.948-63T>C (n.948-63T>C)
c.3441+16522A>G (n.3441+16522A>G)
c.*339T>C (n.*339T>C)
c.1514T>C (p.Leu505Pro)
c.276+16522A>G (n.276+16522A>G)
c.*220+6022T>C (n.*220+6022T>C)
c.638T>C (p.Leu213Pro)
c.665T>C (p.Leu222Pro)
c.1520T>C (p.Leu507Pro)
c.1334T>C (p.Leu445Pro)
c.1253T>C (p.Leu418Pro)
c.959T>C (p.Leu320Pro)
c.1340T>C (p.Leu447Pro)
 gnomAD v4
2g.48688202A>TCA346745984GTF2A1L,LHCGR,STON1-GTF2A1Lc.1595T>A (p.Leu532Gln)
c.948-63T>A (n.948-63T>A)
c.3441+16522A>T (n.3441+16522A>T)
c.*339T>A (n.*339T>A)
c.1514T>A (p.Leu505Gln)
c.276+16522A>T (n.276+16522A>T)
c.*220+6022T>A (n.*220+6022T>A)
c.638T>A (p.Leu213Gln)
c.665T>A (p.Leu222Gln)
c.1520T>A (p.Leu507Gln)
c.1334T>A (p.Leu445Gln)
c.1253T>A (p.Leu418Gln)
c.959T>A (p.Leu320Gln)
c.1340T>A (p.Leu447Gln)
2g.48688203G>ACA426125299GTF2A1L,LHCGR,STON1-GTF2A1Lc.1594C>T (p.Leu532=)
c.948-64C>T (n.948-64C>T)
c.3441+16523G>A (n.3441+16523G>A)
c.*338C>T (n.*338C>T)
c.1513C>T (p.Leu505=)
c.276+16523G>A (n.276+16523G>A)
c.*220+6021C>T (n.*220+6021C>T)
c.637C>T (p.Leu213=)
c.664C>T (p.Leu222=)
c.1519C>T (p.Leu507=)
c.1333C>T (p.Leu445=)
c.1252C>T (p.Leu418=)
c.958C>T (p.Leu320=)
c.1339C>T (p.Leu447=)
 gnomAD v4
2g.48688203G>CCA346745990GTF2A1L,LHCGR,STON1-GTF2A1Lc.1594C>G (p.Leu532Val)
c.948-64C>G (n.948-64C>G)
c.3441+16523G>C (n.3441+16523G>C)
c.*338C>G (n.*338C>G)
c.1513C>G (p.Leu505Val)
c.276+16523G>C (n.276+16523G>C)
c.*220+6021C>G (n.*220+6021C>G)
c.637C>G (p.Leu213Val)
c.664C>G (p.Leu222Val)
c.1519C>G (p.Leu507Val)
c.1333C>G (p.Leu445Val)
c.1252C>G (p.Leu418Val)
c.958C>G (p.Leu320Val)
c.1339C>G (p.Leu447Val)
2g.48688203G>TCA346745992GTF2A1L,LHCGR,STON1-GTF2A1Lc.1594C>A (p.Leu532Met)
c.948-64C>A (n.948-64C>A)
c.3441+16523G>T (n.3441+16523G>T)
c.*338C>A (n.*338C>A)
c.1513C>A (p.Leu505Met)
c.276+16523G>T (n.276+16523G>T)
c.*220+6021C>A (n.*220+6021C>A)
c.637C>A (p.Leu213Met)
c.664C>A (p.Leu222Met)
c.1519C>A (p.Leu507Met)
c.1333C>A (p.Leu445Met)
c.1252C>A (p.Leu418Met)
c.958C>A (p.Leu320Met)
c.1339C>A (p.Leu447Met)
2g.48688204G>ACA426125304GTF2A1L,LHCGR,STON1-GTF2A1Lc.1593C>T (p.Ile531=)
c.948-65C>T (n.948-65C>T)
c.3441+16524G>A (n.3441+16524G>A)
c.*337C>T (n.*337C>T)
c.1512C>T (p.Ile504=)
c.276+16524G>A (n.276+16524G>A)
c.*220+6020C>T (n.*220+6020C>T)
c.636C>T (p.Ile212=)
c.663C>T (p.Ile221=)
c.1518C>T (p.Ile506=)
c.1332C>T (p.Ile444=)
c.1251C>T (p.Ile417=)
c.957C>T (p.Ile319=)
c.1338C>T (p.Ile446=)
 gnomAD v4
2g.48688204G>CCA346746000GTF2A1L,LHCGR,STON1-GTF2A1Lc.1593C>G (p.Ile531Met)
c.948-65C>G (n.948-65C>G)
c.3441+16524G>C (n.3441+16524G>C)
c.*337C>G (n.*337C>G)
c.1512C>G (p.Ile504Met)
c.276+16524G>C (n.276+16524G>C)
c.*220+6020C>G (n.*220+6020C>G)
c.636C>G (p.Ile212Met)
c.663C>G (p.Ile221Met)
c.1518C>G (p.Ile506Met)
c.1332C>G (p.Ile444Met)
c.1251C>G (p.Ile417Met)
c.957C>G (p.Ile319Met)
c.1338C>G (p.Ile446Met)
2g.48688204G>TCA426125303GTF2A1L,LHCGR,STON1-GTF2A1Lc.1593C>A (p.Ile531=)
c.948-65C>A (n.948-65C>A)
c.3441+16524G>T (n.3441+16524G>T)
c.*337C>A (n.*337C>A)
c.1512C>A (p.Ile504=)
c.276+16524G>T (n.276+16524G>T)
c.*220+6020C>A (n.*220+6020C>A)
c.636C>A (p.Ile212=)
c.663C>A (p.Ile221=)
c.1518C>A (p.Ile506=)
c.1332C>A (p.Ile444=)
c.1251C>A (p.Ile417=)
c.957C>A (p.Ile319=)
c.1338C>A (p.Ile446=)
2g.48688205A>CCA346746003GTF2A1L,LHCGR,STON1-GTF2A1Lc.1592T>G (p.Ile531Ser)
c.948-66T>G (n.948-66T>G)
c.3441+16525A>C (n.3441+16525A>C)
c.*336T>G (n.*336T>G)
c.1511T>G (p.Ile504Ser)
c.276+16525A>C (n.276+16525A>C)
c.*220+6019T>G (n.*220+6019T>G)
c.635T>G (p.Ile212Ser)
c.662T>G (p.Ile221Ser)
c.1517T>G (p.Ile506Ser)
c.1331T>G (p.Ile444Ser)
c.1250T>G (p.Ile417Ser)
c.956T>G (p.Ile319Ser)
c.1337T>G (p.Ile446Ser)
2g.48688205A>GCA346746004GTF2A1L,LHCGR,STON1-GTF2A1Lc.1592T>C (p.Ile531Thr)
c.948-66T>C (n.948-66T>C)
c.3441+16525A>G (n.3441+16525A>G)
c.*336T>C (n.*336T>C)
c.1511T>C (p.Ile504Thr)
c.276+16525A>G (n.276+16525A>G)
c.*220+6019T>C (n.*220+6019T>C)
c.635T>C (p.Ile212Thr)
c.662T>C (p.Ile221Thr)
c.1517T>C (p.Ile506Thr)
c.1331T>C (p.Ile444Thr)
c.1250T>C (p.Ile417Thr)
c.956T>C (p.Ile319Thr)
c.1337T>C (p.Ile446Thr)
2g.48688205A>TCA346746005GTF2A1L,LHCGR,STON1-GTF2A1Lc.1592T>A (p.Ile531Asn)
c.948-66T>A (n.948-66T>A)
c.3441+16525A>T (n.3441+16525A>T)
c.*336T>A (n.*336T>A)
c.1511T>A (p.Ile504Asn)
c.276+16525A>T (n.276+16525A>T)
c.*220+6019T>A (n.*220+6019T>A)
c.635T>A (p.Ile212Asn)
c.662T>A (p.Ile221Asn)
c.1517T>A (p.Ile506Asn)
c.1331T>A (p.Ile444Asn)
c.1250T>A (p.Ile417Asn)
c.956T>A (p.Ile319Asn)
c.1337T>A (p.Ile446Asn)
2g.48688206T>ACA346746006GTF2A1L,LHCGR,STON1-GTF2A1Lc.1591A>T (p.Ile531Phe)
c.948-67A>T (n.948-67A>T)
c.3441+16526T>A (n.3441+16526T>A)
c.*335A>T (n.*335A>T)
c.1510A>T (p.Ile504Phe)
c.276+16526T>A (n.276+16526T>A)
c.*220+6018A>T (n.*220+6018A>T)
c.634A>T (p.Ile212Phe)
c.661A>T (p.Ile221Phe)
c.1516A>T (p.Ile506Phe)
c.1330A>T (p.Ile444Phe)
c.1249A>T (p.Ile417Phe)
c.955A>T (p.Ile319Phe)
c.1336A>T (p.Ile446Phe)
2g.48688206T>CCA346746008GTF2A1L,LHCGR,STON1-GTF2A1Lc.1591A>G (p.Ile531Val)
c.948-67A>G (n.948-67A>G)
c.3441+16526T>C (n.3441+16526T>C)
c.*335A>G (n.*335A>G)
c.1510A>G (p.Ile504Val)
c.276+16526T>C (n.276+16526T>C)
c.*220+6018A>G (n.*220+6018A>G)
c.634A>G (p.Ile212Val)
c.661A>G (p.Ile221Val)
c.1516A>G (p.Ile506Val)
c.1330A>G (p.Ile444Val)
c.1249A>G (p.Ile417Val)
c.955A>G (p.Ile319Val)
c.1336A>G (p.Ile446Val)
 dbSNP
2g.48688206T>GCA346746009GTF2A1L,LHCGR,STON1-GTF2A1Lc.1591A>C (p.Ile531Leu)
c.948-67A>C (n.948-67A>C)
c.3441+16526T>G (n.3441+16526T>G)
c.*335A>C (n.*335A>C)
c.1510A>C (p.Ile504Leu)
c.276+16526T>G (n.276+16526T>G)
c.*220+6018A>C (n.*220+6018A>C)
c.634A>C (p.Ile212Leu)
c.661A>C (p.Ile221Leu)
c.1516A>C (p.Ile506Leu)
c.1330A>C (p.Ile444Leu)
c.1249A>C (p.Ile417Leu)
c.955A>C (p.Ile319Leu)
c.1336A>C (p.Ile446Leu)
2g.48688206T=CA1248601031GTF2A1L,LHCGR,STON1-GTF2A1Lc.1591A= (p.Ile531=)
c.948-67A= (n.948-67A=)
c.3441+16526T= (n.3441+16526T=)
c.*335A= (n.*335A=)
c.1510A= (p.Ile504=)
c.276+16526T= (n.276+16526T=)
c.*220+6018A= (n.*220+6018A=)
c.634A= (p.Ile212=)
c.661A= (p.Ile221=)
c.1516A= (p.Ile506=)
c.1330A= (p.Ile444=)
c.1249A= (p.Ile417=)
c.955A= (p.Ile319=)
c.1336A= (p.Ile446=)
2g.48688207G>ACA426125307GTF2A1L,LHCGR,STON1-GTF2A1Lc.1590C>T (p.Thr530=)
c.948-68C>T (n.948-68C>T)
c.3441+16527G>A (n.3441+16527G>A)
c.*334C>T (n.*334C>T)
c.1509C>T (p.Thr503=)
c.276+16527G>A (n.276+16527G>A)
c.*220+6017C>T (n.*220+6017C>T)
c.633C>T (p.Thr211=)
c.660C>T (p.Thr220=)
c.1515C>T (p.Thr505=)
c.1329C>T (p.Thr443=)
c.1248C>T (p.Thr416=)
c.954C>T (p.Thr318=)
c.1335C>T (p.Thr445=)
2g.48688207G>CCA426125309GTF2A1L,LHCGR,STON1-GTF2A1Lc.1590C>G (p.Thr530=)
c.948-68C>G (n.948-68C>G)
c.3441+16527G>C (n.3441+16527G>C)
c.*334C>G (n.*334C>G)
c.1509C>G (p.Thr503=)
c.276+16527G>C (n.276+16527G>C)
c.*220+6017C>G (n.*220+6017C>G)
c.633C>G (p.Thr211=)
c.660C>G (p.Thr220=)
c.1515C>G (p.Thr505=)
c.1329C>G (p.Thr443=)
c.1248C>G (p.Thr416=)
c.954C>G (p.Thr318=)
c.1335C>G (p.Thr445=)
2g.48688207G=CA1248601032GTF2A1L,LHCGR,STON1-GTF2A1Lc.1590C= (p.Thr530=)
c.948-68C= (n.948-68C=)
c.3441+16527G= (n.3441+16527G=)
c.*334C= (n.*334C=)
c.1509C= (p.Thr503=)
c.276+16527G= (n.276+16527G=)
c.*220+6017C= (n.*220+6017C=)
c.633C= (p.Thr211=)
c.660C= (p.Thr220=)
c.1515C= (p.Thr505=)
c.1329C= (p.Thr443=)
c.1248C= (p.Thr416=)
c.954C= (p.Thr318=)
c.1335C= (p.Thr445=)
2g.48688207G>TCA426125310GTF2A1L,LHCGR,STON1-GTF2A1Lc.1590C>A (p.Thr530=)
c.948-68C>A (n.948-68C>A)
c.3441+16527G>T (n.3441+16527G>T)
c.*334C>A (n.*334C>A)
c.1509C>A (p.Thr503=)
c.276+16527G>T (n.276+16527G>T)
c.*220+6017C>A (n.*220+6017C>A)
c.633C>A (p.Thr211=)
c.660C>A (p.Thr220=)
c.1515C>A (p.Thr505=)
c.1329C>A (p.Thr443=)
c.1248C>A (p.Thr416=)
c.954C>A (p.Thr318=)
c.1335C>A (p.Thr445=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.48688208G>ACA1653013GTF2A1L,LHCGR,STON1-GTF2A1Lc.1589C>T (p.Thr530Ile)
c.948-69C>T (n.948-69C>T)
c.3441+16528G>A (n.3441+16528G>A)
c.*333C>T (n.*333C>T)
c.1508C>T (p.Thr503Ile)
c.276+16528G>A (n.276+16528G>A)
c.*220+6016C>T (n.*220+6016C>T)
c.632C>T (p.Thr211Ile)
c.659C>T (p.Thr220Ile)
c.1514C>T (p.Thr505Ile)
c.1328C>T (p.Thr443Ile)
c.1247C>T (p.Thr416Ile)
c.953C>T (p.Thr318Ile)
c.1334C>T (p.Thr445Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688208G>CCA346746019GTF2A1L,LHCGR,STON1-GTF2A1Lc.1589C>G (p.Thr530Ser)
c.948-69C>G (n.948-69C>G)
c.3441+16528G>C (n.3441+16528G>C)
c.*333C>G (n.*333C>G)
c.1508C>G (p.Thr503Ser)
c.276+16528G>C (n.276+16528G>C)
c.*220+6016C>G (n.*220+6016C>G)
c.632C>G (p.Thr211Ser)
c.659C>G (p.Thr220Ser)
c.1514C>G (p.Thr505Ser)
c.1328C>G (p.Thr443Ser)
c.1247C>G (p.Thr416Ser)
c.953C>G (p.Thr318Ser)
c.1334C>G (p.Thr445Ser)
2g.48688208G=CA1248601033GTF2A1L,LHCGR,STON1-GTF2A1Lc.1589C= (p.Thr530=)
c.948-69C= (n.948-69C=)
c.3441+16528G= (n.3441+16528G=)
c.*333C= (n.*333C=)
c.1508C= (p.Thr503=)
c.276+16528G= (n.276+16528G=)
c.*220+6016C= (n.*220+6016C=)
c.632C= (p.Thr211=)
c.659C= (p.Thr220=)
c.1514C= (p.Thr505=)
c.1328C= (p.Thr443=)
c.1247C= (p.Thr416=)
c.953C= (p.Thr318=)
c.1334C= (p.Thr445=)
2g.48688208G>TCA346746021GTF2A1L,LHCGR,STON1-GTF2A1Lc.1589C>A (p.Thr530Asn)
c.948-69C>A (n.948-69C>A)
c.3441+16528G>T (n.3441+16528G>T)
c.*333C>A (n.*333C>A)
c.1508C>A (p.Thr503Asn)
c.276+16528G>T (n.276+16528G>T)
c.*220+6016C>A (n.*220+6016C>A)
c.632C>A (p.Thr211Asn)
c.659C>A (p.Thr220Asn)
c.1514C>A (p.Thr505Asn)
c.1328C>A (p.Thr443Asn)
c.1247C>A (p.Thr416Asn)
c.953C>A (p.Thr318Asn)
c.1334C>A (p.Thr445Asn)
2g.48688209T>ACA346746034GTF2A1L,LHCGR,STON1-GTF2A1Lc.1588A>T (p.Thr530Ser)
c.948-70A>T (n.948-70A>T)
c.3441+16529T>A (n.3441+16529T>A)
c.*332A>T (n.*332A>T)
c.1507A>T (p.Thr503Ser)
c.276+16529T>A (n.276+16529T>A)
c.*220+6015A>T (n.*220+6015A>T)
c.631A>T (p.Thr211Ser)
c.658A>T (p.Thr220Ser)
c.1513A>T (p.Thr505Ser)
c.1327A>T (p.Thr443Ser)
c.1246A>T (p.Thr416Ser)
c.952A>T (p.Thr318Ser)
c.1333A>T (p.Thr445Ser)
2g.48688209T>CCA346746027GTF2A1L,LHCGR,STON1-GTF2A1Lc.1588A>G (p.Thr530Ala)
c.948-70A>G (n.948-70A>G)
c.3441+16529T>C (n.3441+16529T>C)
c.*332A>G (n.*332A>G)
c.1507A>G (p.Thr503Ala)
c.276+16529T>C (n.276+16529T>C)
c.*220+6015A>G (n.*220+6015A>G)
c.631A>G (p.Thr211Ala)
c.658A>G (p.Thr220Ala)
c.1513A>G (p.Thr505Ala)
c.1327A>G (p.Thr443Ala)
c.1246A>G (p.Thr416Ala)
c.952A>G (p.Thr318Ala)
c.1333A>G (p.Thr445Ala)
2g.48688209T>GCA46752898GTF2A1L,LHCGR,STON1-GTF2A1Lc.1588A>C (p.Thr530Pro)
c.948-70A>C (n.948-70A>C)
c.3441+16529T>G (n.3441+16529T>G)
c.*332A>C (n.*332A>C)
c.1507A>C (p.Thr503Pro)
c.276+16529T>G (n.276+16529T>G)
c.*220+6015A>C (n.*220+6015A>C)
c.631A>C (p.Thr211Pro)
c.658A>C (p.Thr220Pro)
c.1513A>C (p.Thr505Pro)
c.1327A>C (p.Thr443Pro)
c.1246A>C (p.Thr416Pro)
c.952A>C (p.Thr318Pro)
c.1333A>C (p.Thr445Pro)
 dbSNP COSMIC
2g.48688209T=CA1248601034GTF2A1L,LHCGR,STON1-GTF2A1Lc.1588A= (p.Thr530=)
c.948-70A= (n.948-70A=)
c.3441+16529T= (n.3441+16529T=)
c.*332A= (n.*332A=)
c.1507A= (p.Thr503=)
c.276+16529T= (n.276+16529T=)
c.*220+6015A= (n.*220+6015A=)
c.631A= (p.Thr211=)
c.658A= (p.Thr220=)
c.1513A= (p.Thr505=)
c.1327A= (p.Thr443=)
c.1246A= (p.Thr416=)
c.952A= (p.Thr318=)
c.1333A= (p.Thr445=)
2g.48688210T>ACA346746035GTF2A1L,LHCGR,STON1-GTF2A1Lc.1587A>T (p.Leu529Phe)
c.948-71A>T (n.948-71A>T)
c.3441+16530T>A (n.3441+16530T>A)
c.*331A>T (n.*331A>T)
c.1506A>T (p.Leu502Phe)
c.276+16530T>A (n.276+16530T>A)
c.*220+6014A>T (n.*220+6014A>T)
c.630A>T (p.Leu210Phe)
c.657A>T (p.Leu219Phe)
c.1512A>T (p.Leu504Phe)
c.1326A>T (p.Leu442Phe)
c.1245A>T (p.Leu415Phe)
c.951A>T (p.Leu317Phe)
c.1332A>T (p.Leu444Phe)
2g.48688210T>CCA426125318GTF2A1L,LHCGR,STON1-GTF2A1Lc.1587A>G (p.Leu529=)
c.948-71A>G (n.948-71A>G)
c.3441+16530T>C (n.3441+16530T>C)
c.*331A>G (n.*331A>G)
c.1506A>G (p.Leu502=)
c.276+16530T>C (n.276+16530T>C)
c.*220+6014A>G (n.*220+6014A>G)
c.630A>G (p.Leu210=)
c.657A>G (p.Leu219=)
c.1512A>G (p.Leu504=)
c.1326A>G (p.Leu442=)
c.1245A>G (p.Leu415=)
c.951A>G (p.Leu317=)
c.1332A>G (p.Leu444=)
 COSMIC
2g.48688210T>GCA346746041GTF2A1L,LHCGR,STON1-GTF2A1Lc.1587A>C (p.Leu529Phe)
c.948-71A>C (n.948-71A>C)
c.3441+16530T>G (n.3441+16530T>G)
c.*331A>C (n.*331A>C)
c.1506A>C (p.Leu502Phe)
c.276+16530T>G (n.276+16530T>G)
c.*220+6014A>C (n.*220+6014A>C)
c.630A>C (p.Leu210Phe)
c.657A>C (p.Leu219Phe)
c.1512A>C (p.Leu504Phe)
c.1326A>C (p.Leu442Phe)
c.1245A>C (p.Leu415Phe)
c.951A>C (p.Leu317Phe)
c.1332A>C (p.Leu444Phe)
2g.48688211A>CCA346746044GTF2A1L,LHCGR,STON1-GTF2A1Lc.1586T>G (p.Leu529Ter)
c.948-72T>G (n.948-72T>G)
c.3441+16531A>C (n.3441+16531A>C)
c.*330T>G (n.*330T>G)
c.1505T>G (p.Leu502Ter)
c.276+16531A>C (n.276+16531A>C)
c.*220+6013T>G (n.*220+6013T>G)
c.629T>G (p.Leu210Ter)
c.656T>G (p.Leu219Ter)
c.1511T>G (p.Leu504Ter)
c.1325T>G (p.Leu442Ter)
c.1244T>G (p.Leu415Ter)
c.950T>G (p.Leu317Ter)
c.1331T>G (p.Leu444Ter)
2g.48688211A>GCA346746048GTF2A1L,LHCGR,STON1-GTF2A1Lc.1586T>C (p.Leu529Ser)
c.948-72T>C (n.948-72T>C)
c.3441+16531A>G (n.3441+16531A>G)
c.*330T>C (n.*330T>C)
c.1505T>C (p.Leu502Ser)
c.276+16531A>G (n.276+16531A>G)
c.*220+6013T>C (n.*220+6013T>C)
c.629T>C (p.Leu210Ser)
c.656T>C (p.Leu219Ser)
c.1511T>C (p.Leu504Ser)
c.1325T>C (p.Leu442Ser)
c.1244T>C (p.Leu415Ser)
c.950T>C (p.Leu317Ser)
c.1331T>C (p.Leu444Ser)
2g.48688211A>TCA346746051GTF2A1L,LHCGR,STON1-GTF2A1Lc.1586T>A (p.Leu529Ter)
c.948-72T>A (n.948-72T>A)
c.3441+16531A>T (n.3441+16531A>T)
c.*330T>A (n.*330T>A)
c.1505T>A (p.Leu502Ter)
c.276+16531A>T (n.276+16531A>T)
c.*220+6013T>A (n.*220+6013T>A)
c.629T>A (p.Leu210Ter)
c.656T>A (p.Leu219Ter)
c.1511T>A (p.Leu504Ter)
c.1325T>A (p.Leu442Ter)
c.1244T>A (p.Leu415Ter)
c.950T>A (p.Leu317Ter)
c.1331T>A (p.Leu444Ter)
2g.48688212A>CCA346746053GTF2A1L,LHCGR,STON1-GTF2A1Lc.1585T>G (p.Leu529Val)
c.948-73T>G (n.948-73T>G)
c.3441+16532A>C (n.3441+16532A>C)
c.*329T>G (n.*329T>G)
c.1504T>G (p.Leu502Val)
c.276+16532A>C (n.276+16532A>C)
c.*220+6012T>G (n.*220+6012T>G)
c.628T>G (p.Leu210Val)
c.655T>G (p.Leu219Val)
c.1510T>G (p.Leu504Val)
c.1324T>G (p.Leu442Val)
c.1243T>G (p.Leu415Val)
c.949T>G (p.Leu317Val)
c.1330T>G (p.Leu444Val)
2g.48688212A>GCA426125324GTF2A1L,LHCGR,STON1-GTF2A1Lc.1585T>C (p.Leu529=)
c.948-73T>C (n.948-73T>C)
c.3441+16532A>G (n.3441+16532A>G)
c.*329T>C (n.*329T>C)
c.1504T>C (p.Leu502=)
c.276+16532A>G (n.276+16532A>G)
c.*220+6012T>C (n.*220+6012T>C)
c.628T>C (p.Leu210=)
c.655T>C (p.Leu219=)
c.1510T>C (p.Leu504=)
c.1324T>C (p.Leu442=)
c.1243T>C (p.Leu415=)
c.949T>C (p.Leu317=)
c.1330T>C (p.Leu444=)
2g.48688212A>TCA346746060GTF2A1L,LHCGR,STON1-GTF2A1Lc.1585T>A (p.Leu529Ile)
c.948-73T>A (n.948-73T>A)
c.3441+16532A>T (n.3441+16532A>T)
c.*329T>A (n.*329T>A)
c.1504T>A (p.Leu502Ile)
c.276+16532A>T (n.276+16532A>T)
c.*220+6012T>A (n.*220+6012T>A)
c.628T>A (p.Leu210Ile)
c.655T>A (p.Leu219Ile)
c.1510T>A (p.Leu504Ile)
c.1324T>A (p.Leu442Ile)
c.1243T>A (p.Leu415Ile)
c.949T>A (p.Leu317Ile)
c.1330T>A (p.Leu444Ile)
2g.48688212_48688213insCACA2576963412GTF2A1L,LHCGR,STON1-GTF2A1Lc.1585_1586insGT (p.Leu529CysfsTer2)
c.948-73_948-72insGT (n.948-73_948-72insGT)
c.3441+16532_3441+16533insCA (n.3441+16532_3441+16533insCA)
c.*329_*330insGT (n.*329_*330insGT)
c.1504_1505insGT (p.Leu502CysfsTer2)
c.276+16532_276+16533insCA (n.276+16532_276+16533insCA)
c.*220+6012_*220+6013insGT (n.*220+6012_*220+6013insGT)
c.628_629insGT (p.Leu210CysfsTer2)
c.655_656insGT (p.Leu219CysfsTer2)
c.1510_1511insGT (p.Leu504CysfsTer2)
c.1324_1325insGT (p.Leu442CysfsTer2)
c.1243_1244insGT (p.Leu415CysfsTer2)
c.949_950insGT (p.Leu317CysfsTer2)
c.1330_1331insGT (p.Leu444CysfsTer2)
2g.48688215_48688218delCA2586969306GTF2A1L,LHCGR,STON1-GTF2A1Lc.1582_1585del (p.Ile528Ter)
c.948-76_948-73del (n.948-76_948-73del)
c.3441+16535_3441+16538del (n.3441+16535_3441+16538del)
c.*326_*329del (n.*326_*329del)
c.1501_1504del (p.Ile501Ter)
c.276+16535_276+16538del (n.276+16535_276+16538del)
c.*220+6009_*220+6012del (n.*220+6009_*220+6012del)
c.625_628del (p.Ile209Ter)
c.652_655del (p.Ile218Ter)
c.1507_1510del (p.Ile503Ter)
c.1321_1324del (p.Ile441Ter)
c.1240_1243del (p.Ile414Ter)
c.946_949del (p.Ile316Ter)
c.1327_1330del (p.Ile443Ter)
2g.48688213T>ACA426125328GTF2A1L,LHCGR,STON1-GTF2A1Lc.1584A>T (p.Ile528=)
c.948-74A>T (n.948-74A>T)
c.3441+16533T>A (n.3441+16533T>A)
c.*328A>T (n.*328A>T)
c.1503A>T (p.Ile501=)
c.276+16533T>A (n.276+16533T>A)
c.*220+6011A>T (n.*220+6011A>T)
c.627A>T (p.Ile209=)
c.654A>T (p.Ile218=)
c.1509A>T (p.Ile503=)
c.1323A>T (p.Ile441=)
c.1242A>T (p.Ile414=)
c.948A>T (p.Ile316=)
c.1329A>T (p.Ile443=)
2g.48688213T>CCA346746062GTF2A1L,LHCGR,STON1-GTF2A1Lc.1584A>G (p.Ile528Met)
c.948-74A>G (n.948-74A>G)
c.3441+16533T>C (n.3441+16533T>C)
c.*328A>G (n.*328A>G)
c.1503A>G (p.Ile501Met)
c.276+16533T>C (n.276+16533T>C)
c.*220+6011A>G (n.*220+6011A>G)
c.627A>G (p.Ile209Met)
c.654A>G (p.Ile218Met)
c.1509A>G (p.Ile503Met)
c.1323A>G (p.Ile441Met)
c.1242A>G (p.Ile414Met)
c.948A>G (p.Ile316Met)
c.1329A>G (p.Ile443Met)
2g.48688213T>GCA426125329GTF2A1L,LHCGR,STON1-GTF2A1Lc.1584A>C (p.Ile528=)
c.948-74A>C (n.948-74A>C)
c.3441+16533T>G (n.3441+16533T>G)
c.*328A>C (n.*328A>C)
c.1503A>C (p.Ile501=)
c.276+16533T>G (n.276+16533T>G)
c.*220+6011A>C (n.*220+6011A>C)
c.627A>C (p.Ile209=)
c.654A>C (p.Ile218=)
c.1509A>C (p.Ile503=)
c.1323A>C (p.Ile441=)
c.1242A>C (p.Ile414=)
c.948A>C (p.Ile316=)
c.1329A>C (p.Ile443=)
2g.48688214A>CCA346746066GTF2A1L,LHCGR,STON1-GTF2A1Lc.1583T>G (p.Ile528Arg)
c.948-75T>G (n.948-75T>G)
c.3441+16534A>C (n.3441+16534A>C)
c.*327T>G (n.*327T>G)
c.1502T>G (p.Ile501Arg)
c.276+16534A>C (n.276+16534A>C)
c.*220+6010T>G (n.*220+6010T>G)
c.626T>G (p.Ile209Arg)
c.653T>G (p.Ile218Arg)
c.1508T>G (p.Ile503Arg)
c.1322T>G (p.Ile441Arg)
c.1241T>G (p.Ile414Arg)
c.947T>G (p.Ile316Arg)
c.1328T>G (p.Ile443Arg)
2g.48688214A>GCA346746073GTF2A1L,LHCGR,STON1-GTF2A1Lc.1583T>C (p.Ile528Thr)
c.948-75T>C (n.948-75T>C)
c.3441+16534A>G (n.3441+16534A>G)
c.*327T>C (n.*327T>C)
c.1502T>C (p.Ile501Thr)
c.276+16534A>G (n.276+16534A>G)
c.*220+6010T>C (n.*220+6010T>C)
c.626T>C (p.Ile209Thr)
c.653T>C (p.Ile218Thr)
c.1508T>C (p.Ile503Thr)
c.1322T>C (p.Ile441Thr)
c.1241T>C (p.Ile414Thr)
c.947T>C (p.Ile316Thr)
c.1328T>C (p.Ile443Thr)
 COSMIC
2g.48688214A>TCA346746074GTF2A1L,LHCGR,STON1-GTF2A1Lc.1583T>A (p.Ile528Lys)
c.948-75T>A (n.948-75T>A)
c.3441+16534A>T (n.3441+16534A>T)
c.*327T>A (n.*327T>A)
c.1502T>A (p.Ile501Lys)
c.276+16534A>T (n.276+16534A>T)
c.*220+6010T>A (n.*220+6010T>A)
c.626T>A (p.Ile209Lys)
c.653T>A (p.Ile218Lys)
c.1508T>A (p.Ile503Lys)
c.1322T>A (p.Ile441Lys)
c.1241T>A (p.Ile414Lys)
c.947T>A (p.Ile316Lys)
c.1328T>A (p.Ile443Lys)
2g.48688215T>ACA346746078GTF2A1L,LHCGR,STON1-GTF2A1Lc.1582A>T (p.Ile528Leu)
c.948-76A>T (n.948-76A>T)
c.3441+16535T>A (n.3441+16535T>A)
c.*326A>T (n.*326A>T)
c.1501A>T (p.Ile501Leu)
c.276+16535T>A (n.276+16535T>A)
c.*220+6009A>T (n.*220+6009A>T)
c.625A>T (p.Ile209Leu)
c.652A>T (p.Ile218Leu)
c.1507A>T (p.Ile503Leu)
c.1321A>T (p.Ile441Leu)
c.1240A>T (p.Ile414Leu)
c.946A>T (p.Ile316Leu)
c.1327A>T (p.Ile443Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48688215T>CCA346746080GTF2A1L,LHCGR,STON1-GTF2A1Lc.1582A>G (p.Ile528Val)
c.948-76A>G (n.948-76A>G)
c.3441+16535T>C (n.3441+16535T>C)
c.*326A>G (n.*326A>G)
c.1501A>G (p.Ile501Val)
c.276+16535T>C (n.276+16535T>C)
c.*220+6009A>G (n.*220+6009A>G)
c.625A>G (p.Ile209Val)
c.652A>G (p.Ile218Val)
c.1507A>G (p.Ile503Val)
c.1321A>G (p.Ile441Val)
c.1240A>G (p.Ile414Val)
c.946A>G (p.Ile316Val)
c.1327A>G (p.Ile443Val)
 gnomAD v4
2g.48688215T>GCA346746085GTF2A1L,LHCGR,STON1-GTF2A1Lc.1582A>C (p.Ile528Leu)
c.948-76A>C (n.948-76A>C)
c.3441+16535T>G (n.3441+16535T>G)
c.*326A>C (n.*326A>C)
c.1501A>C (p.Ile501Leu)
c.276+16535T>G (n.276+16535T>G)
c.*220+6009A>C (n.*220+6009A>C)
c.625A>C (p.Ile209Leu)
c.652A>C (p.Ile218Leu)
c.1507A>C (p.Ile503Leu)
c.1321A>C (p.Ile441Leu)
c.1240A>C (p.Ile414Leu)
c.946A>C (p.Ile316Leu)
c.1327A>C (p.Ile443Leu)
2g.48688215T=CA1248601035GTF2A1L,LHCGR,STON1-GTF2A1Lc.1582A= (p.Ile528=)
c.948-76A= (n.948-76A=)
c.3441+16535T= (n.3441+16535T=)
c.*326A= (n.*326A=)
c.1501A= (p.Ile501=)
c.276+16535T= (n.276+16535T=)
c.*220+6009A= (n.*220+6009A=)
c.625A= (p.Ile209=)
c.652A= (p.Ile218=)
c.1507A= (p.Ile503=)
c.1321A= (p.Ile441=)
c.1240A= (p.Ile414=)
c.946A= (p.Ile316=)
c.1327A= (p.Ile443=)
2g.48688216A=CA1248601036GTF2A1L,LHCGR,STON1-GTF2A1Lc.1581T= (p.Tyr527=)
c.948-77T= (n.948-77T=)
c.3441+16536A= (n.3441+16536A=)
c.*325T= (n.*325T=)
c.1500T= (p.Tyr500=)
c.276+16536A= (n.276+16536A=)
c.*220+6008T= (n.*220+6008T=)
c.624T= (p.Tyr208=)
c.651T= (p.Tyr217=)
c.1506T= (p.Tyr502=)
c.1320T= (p.Tyr440=)
c.1239T= (p.Tyr413=)
c.945T= (p.Tyr315=)
c.1326T= (p.Tyr442=)
2g.48688216A>CCA346746096GTF2A1L,LHCGR,STON1-GTF2A1Lc.1581T>G (p.Tyr527Ter)
c.948-77T>G (n.948-77T>G)
c.3441+16536A>C (n.3441+16536A>C)
c.*325T>G (n.*325T>G)
c.1500T>G (p.Tyr500Ter)
c.276+16536A>C (n.276+16536A>C)
c.*220+6008T>G (n.*220+6008T>G)
c.624T>G (p.Tyr208Ter)
c.651T>G (p.Tyr217Ter)
c.1506T>G (p.Tyr502Ter)
c.1320T>G (p.Tyr440Ter)
c.1239T>G (p.Tyr413Ter)
c.945T>G (p.Tyr315Ter)
c.1326T>G (p.Tyr442Ter)
2g.48688216A>GCA1653014GTF2A1L,LHCGR,STON1-GTF2A1Lc.1581T>C (p.Tyr527=)
c.948-77T>C (n.948-77T>C)
c.3441+16536A>G (n.3441+16536A>G)
c.*325T>C (n.*325T>C)
c.1500T>C (p.Tyr500=)
c.276+16536A>G (n.276+16536A>G)
c.*220+6008T>C (n.*220+6008T>C)
c.624T>C (p.Tyr208=)
c.651T>C (p.Tyr217=)
c.1506T>C (p.Tyr502=)
c.1320T>C (p.Tyr440=)
c.1239T>C (p.Tyr413=)
c.945T>C (p.Tyr315=)
c.1326T>C (p.Tyr442=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688216A>TCA346746086GTF2A1L,LHCGR,STON1-GTF2A1Lc.1581T>A (p.Tyr527Ter)
c.948-77T>A (n.948-77T>A)
c.3441+16536A>T (n.3441+16536A>T)
c.*325T>A (n.*325T>A)
c.1500T>A (p.Tyr500Ter)
c.276+16536A>T (n.276+16536A>T)
c.*220+6008T>A (n.*220+6008T>A)
c.624T>A (p.Tyr208Ter)
c.651T>A (p.Tyr217Ter)
c.1506T>A (p.Tyr502Ter)
c.1320T>A (p.Tyr440Ter)
c.1239T>A (p.Tyr413Ter)
c.945T>A (p.Tyr315Ter)
c.1326T>A (p.Tyr442Ter)
2g.48688217T>ACA346746097GTF2A1L,LHCGR,STON1-GTF2A1Lc.1580A>T (p.Tyr527Phe)
c.948-78A>T (n.948-78A>T)
c.3441+16537T>A (n.3441+16537T>A)
c.*324A>T (n.*324A>T)
c.1499A>T (p.Tyr500Phe)
c.276+16537T>A (n.276+16537T>A)
c.*220+6007A>T (n.*220+6007A>T)
c.623A>T (p.Tyr208Phe)
c.650A>T (p.Tyr217Phe)
c.1505A>T (p.Tyr502Phe)
c.1319A>T (p.Tyr440Phe)
c.1238A>T (p.Tyr413Phe)
c.944A>T (p.Tyr315Phe)
c.1325A>T (p.Tyr442Phe)
2g.48688217T>CCA1653015GTF2A1L,LHCGR,STON1-GTF2A1Lc.1580A>G (p.Tyr527Cys)
c.948-78A>G (n.948-78A>G)
c.3441+16537T>C (n.3441+16537T>C)
c.*324A>G (n.*324A>G)
c.1499A>G (p.Tyr500Cys)
c.276+16537T>C (n.276+16537T>C)
c.*220+6007A>G (n.*220+6007A>G)
c.623A>G (p.Tyr208Cys)
c.650A>G (p.Tyr217Cys)
c.1505A>G (p.Tyr502Cys)
c.1319A>G (p.Tyr440Cys)
c.1238A>G (p.Tyr413Cys)
c.944A>G (p.Tyr315Cys)
c.1325A>G (p.Tyr442Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688217T>GCA346746100GTF2A1L,LHCGR,STON1-GTF2A1Lc.1580A>C (p.Tyr527Ser)
c.948-78A>C (n.948-78A>C)
c.3441+16537T>G (n.3441+16537T>G)
c.*324A>C (n.*324A>C)
c.1499A>C (p.Tyr500Ser)
c.276+16537T>G (n.276+16537T>G)
c.*220+6007A>C (n.*220+6007A>C)
c.623A>C (p.Tyr208Ser)
c.650A>C (p.Tyr217Ser)
c.1505A>C (p.Tyr502Ser)
c.1319A>C (p.Tyr440Ser)
c.1238A>C (p.Tyr413Ser)
c.944A>C (p.Tyr315Ser)
c.1325A>C (p.Tyr442Ser)
2g.48688217T=CA1248601037GTF2A1L,LHCGR,STON1-GTF2A1Lc.1580A= (p.Tyr527=)
c.948-78A= (n.948-78A=)
c.3441+16537T= (n.3441+16537T=)
c.*324A= (n.*324A=)
c.1499A= (p.Tyr500=)
c.276+16537T= (n.276+16537T=)
c.*220+6007A= (n.*220+6007A=)
c.623A= (p.Tyr208=)
c.650A= (p.Tyr217=)
c.1505A= (p.Tyr502=)
c.1319A= (p.Tyr440=)
c.1238A= (p.Tyr413=)
c.944A= (p.Tyr315=)
c.1325A= (p.Tyr442=)
2g.48688218A>CCA346746104GTF2A1L,LHCGR,STON1-GTF2A1Lc.1579T>G (p.Tyr527Asp)
c.948-79T>G (n.948-79T>G)
c.3441+16538A>C (n.3441+16538A>C)
c.*323T>G (n.*323T>G)
c.1498T>G (p.Tyr500Asp)
c.276+16538A>C (n.276+16538A>C)
c.*220+6006T>G (n.*220+6006T>G)
c.622T>G (p.Tyr208Asp)
c.649T>G (p.Tyr217Asp)
c.1504T>G (p.Tyr502Asp)
c.1318T>G (p.Tyr440Asp)
c.1237T>G (p.Tyr413Asp)
c.943T>G (p.Tyr315Asp)
c.1324T>G (p.Tyr442Asp)
2g.48688218A>GCA346746111GTF2A1L,LHCGR,STON1-GTF2A1Lc.1579T>C (p.Tyr527His)
c.948-79T>C (n.948-79T>C)
c.3441+16538A>G (n.3441+16538A>G)
c.*323T>C (n.*323T>C)
c.1498T>C (p.Tyr500His)
c.276+16538A>G (n.276+16538A>G)
c.*220+6006T>C (n.*220+6006T>C)
c.622T>C (p.Tyr208His)
c.649T>C (p.Tyr217His)
c.1504T>C (p.Tyr502His)
c.1318T>C (p.Tyr440His)
c.1237T>C (p.Tyr413His)
c.943T>C (p.Tyr315His)
c.1324T>C (p.Tyr442His)
2g.48688218A>TCA346746114GTF2A1L,LHCGR,STON1-GTF2A1Lc.1579T>A (p.Tyr527Asn)
c.948-79T>A (n.948-79T>A)
c.3441+16538A>T (n.3441+16538A>T)
c.*323T>A (n.*323T>A)
c.1498T>A (p.Tyr500Asn)
c.276+16538A>T (n.276+16538A>T)
c.*220+6006T>A (n.*220+6006T>A)
c.622T>A (p.Tyr208Asn)
c.649T>A (p.Tyr217Asn)
c.1504T>A (p.Tyr502Asn)
c.1318T>A (p.Tyr440Asn)
c.1237T>A (p.Tyr413Asn)
c.943T>A (p.Tyr315Asn)
c.1324T>A (p.Tyr442Asn)
 gnomAD v4
2g.48688219G>ACA426125345GTF2A1L,LHCGR,STON1-GTF2A1Lc.1578C>T (p.Val526=)
c.948-80C>T (n.948-80C>T)
c.3441+16539G>A (n.3441+16539G>A)
c.*322C>T (n.*322C>T)
c.1497C>T (p.Val499=)
c.276+16539G>A (n.276+16539G>A)
c.*220+6005C>T (n.*220+6005C>T)
c.621C>T (p.Val207=)
c.648C>T (p.Val216=)
c.1503C>T (p.Val501=)
c.1317C>T (p.Val439=)
c.1236C>T (p.Val412=)
c.942C>T (p.Val314=)
c.1323C>T (p.Val441=)
2g.48688219G>CCA426125348GTF2A1L,LHCGR,STON1-GTF2A1Lc.1578C>G (p.Val526=)
c.948-80C>G (n.948-80C>G)
c.3441+16539G>C (n.3441+16539G>C)
c.*322C>G (n.*322C>G)
c.1497C>G (p.Val499=)
c.276+16539G>C (n.276+16539G>C)
c.*220+6005C>G (n.*220+6005C>G)
c.621C>G (p.Val207=)
c.648C>G (p.Val216=)
c.1503C>G (p.Val501=)
c.1317C>G (p.Val439=)
c.1236C>G (p.Val412=)
c.942C>G (p.Val314=)
c.1323C>G (p.Val441=)
2g.48688219G>TCA426125352GTF2A1L,LHCGR,STON1-GTF2A1Lc.1578C>A (p.Val526=)
c.948-80C>A (n.948-80C>A)
c.3441+16539G>T (n.3441+16539G>T)
c.*322C>A (n.*322C>A)
c.1497C>A (p.Val499=)
c.276+16539G>T (n.276+16539G>T)
c.*220+6005C>A (n.*220+6005C>A)
c.621C>A (p.Val207=)
c.648C>A (p.Val216=)
c.1503C>A (p.Val501=)
c.1317C>A (p.Val439=)
c.1236C>A (p.Val412=)
c.942C>A (p.Val314=)
c.1323C>A (p.Val441=)
2g.48688220A>CCA346746120GTF2A1L,LHCGR,STON1-GTF2A1Lc.1577T>G (p.Val526Gly)
c.948-81T>G (n.948-81T>G)
c.3441+16540A>C (n.3441+16540A>C)
c.*321T>G (n.*321T>G)
c.1496T>G (p.Val499Gly)
c.276+16540A>C (n.276+16540A>C)
c.*220+6004T>G (n.*220+6004T>G)
c.620T>G (p.Val207Gly)
c.647T>G (p.Val216Gly)
c.1502T>G (p.Val501Gly)
c.1316T>G (p.Val439Gly)
c.1235T>G (p.Val412Gly)
c.941T>G (p.Val314Gly)
c.1322T>G (p.Val441Gly)
2g.48688220A>GCA346746123GTF2A1L,LHCGR,STON1-GTF2A1Lc.1577T>C (p.Val526Ala)
c.948-81T>C (n.948-81T>C)
c.3441+16540A>G (n.3441+16540A>G)
c.*321T>C (n.*321T>C)
c.1496T>C (p.Val499Ala)
c.276+16540A>G (n.276+16540A>G)
c.*220+6004T>C (n.*220+6004T>C)
c.620T>C (p.Val207Ala)
c.647T>C (p.Val216Ala)
c.1502T>C (p.Val501Ala)
c.1316T>C (p.Val439Ala)
c.1235T>C (p.Val412Ala)
c.941T>C (p.Val314Ala)
c.1322T>C (p.Val441Ala)
2g.48688220A>TCA346746125GTF2A1L,LHCGR,STON1-GTF2A1Lc.1577T>A (p.Val526Asp)
c.948-81T>A (n.948-81T>A)
c.3441+16540A>T (n.3441+16540A>T)
c.*321T>A (n.*321T>A)
c.1496T>A (p.Val499Asp)
c.276+16540A>T (n.276+16540A>T)
c.*220+6004T>A (n.*220+6004T>A)
c.620T>A (p.Val207Asp)
c.647T>A (p.Val216Asp)
c.1502T>A (p.Val501Asp)
c.1316T>A (p.Val439Asp)
c.1235T>A (p.Val412Asp)
c.941T>A (p.Val314Asp)
c.1322T>A (p.Val441Asp)
2g.48688221C>ACA346746126GTF2A1L,LHCGR,STON1-GTF2A1Lc.1576G>T (p.Val526Phe)
c.948-82G>T (n.948-82G>T)
c.3441+16541C>A (n.3441+16541C>A)
c.*320G>T (n.*320G>T)
c.1495G>T (p.Val499Phe)
c.276+16541C>A (n.276+16541C>A)
c.*220+6003G>T (n.*220+6003G>T)
c.619G>T (p.Val207Phe)
c.646G>T (p.Val216Phe)
c.1501G>T (p.Val501Phe)
c.1315G>T (p.Val439Phe)
c.1234G>T (p.Val412Phe)
c.940G>T (p.Val314Phe)
c.1321G>T (p.Val441Phe)
 gnomAD v4
2g.48688221C>GCA346746127GTF2A1L,LHCGR,STON1-GTF2A1Lc.1576G>C (p.Val526Leu)
c.948-82G>C (n.948-82G>C)
c.3441+16541C>G (n.3441+16541C>G)
c.*320G>C (n.*320G>C)
c.1495G>C (p.Val499Leu)
c.276+16541C>G (n.276+16541C>G)
c.*220+6003G>C (n.*220+6003G>C)
c.619G>C (p.Val207Leu)
c.646G>C (p.Val216Leu)
c.1501G>C (p.Val501Leu)
c.1315G>C (p.Val439Leu)
c.1234G>C (p.Val412Leu)
c.940G>C (p.Val314Leu)
c.1321G>C (p.Val441Leu)
2g.48688221C>TCA346746128GTF2A1L,LHCGR,STON1-GTF2A1Lc.1576G>A (p.Val526Ile)
c.948-82G>A (n.948-82G>A)
c.3441+16541C>T (n.3441+16541C>T)
c.*320G>A (n.*320G>A)
c.1495G>A (p.Val499Ile)
c.276+16541C>T (n.276+16541C>T)
c.*220+6003G>A (n.*220+6003G>A)
c.619G>A (p.Val207Ile)
c.646G>A (p.Val216Ile)
c.1501G>A (p.Val501Ile)
c.1315G>A (p.Val439Ile)
c.1234G>A (p.Val412Ile)
c.940G>A (p.Val314Ile)
c.1321G>A (p.Val441Ile)
2g.48688222T>ACA346746133GTF2A1L,LHCGR,STON1-GTF2A1Lc.1575A>T (p.Gln525His)
c.948-83A>T (n.948-83A>T)
c.3441+16542T>A (n.3441+16542T>A)
c.*319A>T (n.*319A>T)
c.1494A>T (p.Gln498His)
c.276+16542T>A (n.276+16542T>A)
c.*220+6002A>T (n.*220+6002A>T)
c.618A>T (p.Gln206His)
c.645A>T (p.Gln215His)
c.1500A>T (p.Gln500His)
c.1314A>T (p.Gln438His)
c.1233A>T (p.Gln411His)
c.939A>T (p.Gln313His)
c.1320A>T (p.Gln440His)
2g.48688222T>CCA1653016GTF2A1L,LHCGR,STON1-GTF2A1Lc.1575A>G (p.Gln525=)
c.948-83A>G (n.948-83A>G)
c.3441+16542T>C (n.3441+16542T>C)
c.*319A>G (n.*319A>G)
c.1494A>G (p.Gln498=)
c.276+16542T>C (n.276+16542T>C)
c.*220+6002A>G (n.*220+6002A>G)
c.618A>G (p.Gln206=)
c.645A>G (p.Gln215=)
c.1500A>G (p.Gln500=)
c.1314A>G (p.Gln438=)
c.1233A>G (p.Gln411=)
c.939A>G (p.Gln313=)
c.1320A>G (p.Gln440=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688222T>GCA346746130GTF2A1L,LHCGR,STON1-GTF2A1Lc.1575A>C (p.Gln525His)
c.948-83A>C (n.948-83A>C)
c.3441+16542T>G (n.3441+16542T>G)
c.*319A>C (n.*319A>C)
c.1494A>C (p.Gln498His)
c.276+16542T>G (n.276+16542T>G)
c.*220+6002A>C (n.*220+6002A>C)
c.618A>C (p.Gln206His)
c.645A>C (p.Gln215His)
c.1500A>C (p.Gln500His)
c.1314A>C (p.Gln438His)
c.1233A>C (p.Gln411His)
c.939A>C (p.Gln313His)
c.1320A>C (p.Gln440His)
2g.48688222T=CA1248601038GTF2A1L,LHCGR,STON1-GTF2A1Lc.1575A= (p.Gln525=)
c.948-83A= (n.948-83A=)
c.3441+16542T= (n.3441+16542T=)
c.*319A= (n.*319A=)
c.1494A= (p.Gln498=)
c.276+16542T= (n.276+16542T=)
c.*220+6002A= (n.*220+6002A=)
c.618A= (p.Gln206=)
c.645A= (p.Gln215=)
c.1500A= (p.Gln500=)
c.1314A= (p.Gln438=)
c.1233A= (p.Gln411=)
c.939A= (p.Gln313=)
c.1320A= (p.Gln440=)
2g.48688223T>ACA346746135GTF2A1L,LHCGR,STON1-GTF2A1Lc.1574A>T (p.Gln525Leu)
c.948-84A>T (n.948-84A>T)
c.3441+16543T>A (n.3441+16543T>A)
c.*318A>T (n.*318A>T)
c.1493A>T (p.Gln498Leu)
c.276+16543T>A (n.276+16543T>A)
c.*220+6001A>T (n.*220+6001A>T)
c.617A>T (p.Gln206Leu)
c.644A>T (p.Gln215Leu)
c.1499A>T (p.Gln500Leu)
c.1313A>T (p.Gln438Leu)
c.1232A>T (p.Gln411Leu)
c.938A>T (p.Gln313Leu)
c.1319A>T (p.Gln440Leu)
2g.48688223T>CCA346746140GTF2A1L,LHCGR,STON1-GTF2A1Lc.1574A>G (p.Gln525Arg)
c.948-84A>G (n.948-84A>G)
c.3441+16543T>C (n.3441+16543T>C)
c.*318A>G (n.*318A>G)
c.1493A>G (p.Gln498Arg)
c.276+16543T>C (n.276+16543T>C)
c.*220+6001A>G (n.*220+6001A>G)
c.617A>G (p.Gln206Arg)
c.644A>G (p.Gln215Arg)
c.1499A>G (p.Gln500Arg)
c.1313A>G (p.Gln438Arg)
c.1232A>G (p.Gln411Arg)
c.938A>G (p.Gln313Arg)
c.1319A>G (p.Gln440Arg)
 gnomAD v4
2g.48688223T>GCA346746142GTF2A1L,LHCGR,STON1-GTF2A1Lc.1574A>C (p.Gln525Pro)
c.948-84A>C (n.948-84A>C)
c.3441+16543T>G (n.3441+16543T>G)
c.*318A>C (n.*318A>C)
c.1493A>C (p.Gln498Pro)
c.276+16543T>G (n.276+16543T>G)
c.*220+6001A>C (n.*220+6001A>C)
c.617A>C (p.Gln206Pro)
c.644A>C (p.Gln215Pro)
c.1499A>C (p.Gln500Pro)
c.1313A>C (p.Gln438Pro)
c.1232A>C (p.Gln411Pro)
c.938A>C (p.Gln313Pro)
c.1319A>C (p.Gln440Pro)
2g.48688224G>ACA346746145GTF2A1L,LHCGR,STON1-GTF2A1Lc.1573C>T (p.Gln525Ter)
c.948-85C>T (n.948-85C>T)
c.3441+16544G>A (n.3441+16544G>A)
c.*317C>T (n.*317C>T)
c.1492C>T (p.Gln498Ter)
c.276+16544G>A (n.276+16544G>A)
c.*220+6000C>T (n.*220+6000C>T)
c.616C>T (p.Gln206Ter)
c.643C>T (p.Gln215Ter)
c.1498C>T (p.Gln500Ter)
c.1312C>T (p.Gln438Ter)
c.1231C>T (p.Gln411Ter)
c.937C>T (p.Gln313Ter)
c.1318C>T (p.Gln440Ter)
 ClinVar dbSNP gnomAD v4
2g.48688224G>CCA346746147GTF2A1L,LHCGR,STON1-GTF2A1Lc.1573C>G (p.Gln525Glu)
c.948-85C>G (n.948-85C>G)
c.3441+16544G>C (n.3441+16544G>C)
c.*317C>G (n.*317C>G)
c.1492C>G (p.Gln498Glu)
c.276+16544G>C (n.276+16544G>C)
c.*220+6000C>G (n.*220+6000C>G)
c.616C>G (p.Gln206Glu)
c.643C>G (p.Gln215Glu)
c.1498C>G (p.Gln500Glu)
c.1312C>G (p.Gln438Glu)
c.1231C>G (p.Gln411Glu)
c.937C>G (p.Gln313Glu)
c.1318C>G (p.Gln440Glu)
2g.48688224G=CA1248601039GTF2A1L,LHCGR,STON1-GTF2A1Lc.1573C= (p.Gln525=)
c.948-85C= (n.948-85C=)
c.3441+16544G= (n.3441+16544G=)
c.*317C= (n.*317C=)
c.1492C= (p.Gln498=)
c.276+16544G= (n.276+16544G=)
c.*220+6000C= (n.*220+6000C=)
c.616C= (p.Gln206=)
c.643C= (p.Gln215=)
c.1498C= (p.Gln500=)
c.1312C= (p.Gln438=)
c.1231C= (p.Gln411=)
c.937C= (p.Gln313=)
c.1318C= (p.Gln440=)
2g.48688224G>TCA346746149GTF2A1L,LHCGR,STON1-GTF2A1Lc.1573C>A (p.Gln525Lys)
c.948-85C>A (n.948-85C>A)
c.3441+16544G>T (n.3441+16544G>T)
c.*317C>A (n.*317C>A)
c.1492C>A (p.Gln498Lys)
c.276+16544G>T (n.276+16544G>T)
c.*220+6000C>A (n.*220+6000C>A)
c.616C>A (p.Gln206Lys)
c.643C>A (p.Gln215Lys)
c.1498C>A (p.Gln500Lys)
c.1312C>A (p.Gln438Lys)
c.1231C>A (p.Gln411Lys)
c.937C>A (p.Gln313Lys)
c.1318C>A (p.Gln440Lys)
2g.48688225T>ACA426125377GTF2A1L,LHCGR,STON1-GTF2A1Lc.1572A>T (p.Ser524=)
c.948-86A>T (n.948-86A>T)
c.3441+16545T>A (n.3441+16545T>A)
c.*316A>T (n.*316A>T)
c.1491A>T (p.Ser497=)
c.276+16545T>A (n.276+16545T>A)
c.*220+5999A>T (n.*220+5999A>T)
c.615A>T (p.Ser205=)
c.642A>T (p.Ser214=)
c.1497A>T (p.Ser499=)
c.1311A>T (p.Ser437=)
c.1230A>T (p.Ser410=)
c.936A>T (p.Ser312=)
c.1317A>T (p.Ser439=)
2g.48688225T>CCA1653017GTF2A1L,LHCGR,STON1-GTF2A1Lc.1572A>G (p.Ser524=)
c.948-86A>G (n.948-86A>G)
c.3441+16545T>C (n.3441+16545T>C)
c.*316A>G (n.*316A>G)
c.1491A>G (p.Ser497=)
c.276+16545T>C (n.276+16545T>C)
c.*220+5999A>G (n.*220+5999A>G)
c.615A>G (p.Ser205=)
c.642A>G (p.Ser214=)
c.1497A>G (p.Ser499=)
c.1311A>G (p.Ser437=)
c.1230A>G (p.Ser410=)
c.936A>G (p.Ser312=)
c.1317A>G (p.Ser439=)
 dbSNP ExAC gnomAD v2
2g.48688225T>GCA426125378GTF2A1L,LHCGR,STON1-GTF2A1Lc.1572A>C (p.Ser524=)
c.948-86A>C (n.948-86A>C)
c.3441+16545T>G (n.3441+16545T>G)
c.*316A>C (n.*316A>C)
c.1491A>C (p.Ser497=)
c.276+16545T>G (n.276+16545T>G)
c.*220+5999A>C (n.*220+5999A>C)
c.615A>C (p.Ser205=)
c.642A>C (p.Ser214=)
c.1497A>C (p.Ser499=)
c.1311A>C (p.Ser437=)
c.1230A>C (p.Ser410=)
c.936A>C (p.Ser312=)
c.1317A>C (p.Ser439=)
2g.48688225T=CA1248601040GTF2A1L,LHCGR,STON1-GTF2A1Lc.1572A= (p.Ser524=)
c.948-86A= (n.948-86A=)
c.3441+16545T= (n.3441+16545T=)
c.*316A= (n.*316A=)
c.1491A= (p.Ser497=)
c.276+16545T= (n.276+16545T=)
c.*220+5999A= (n.*220+5999A=)
c.615A= (p.Ser205=)
c.642A= (p.Ser214=)
c.1497A= (p.Ser499=)
c.1311A= (p.Ser437=)
c.1230A= (p.Ser410=)
c.936A= (p.Ser312=)
c.1317A= (p.Ser439=)
2g.48688226G>ACA346746155GTF2A1L,LHCGR,STON1-GTF2A1Lc.1571C>T (p.Ser524Leu)
c.948-87C>T (n.948-87C>T)
c.3441+16546G>A (n.3441+16546G>A)
c.*315C>T (n.*315C>T)
c.1490C>T (p.Ser497Leu)
c.276+16546G>A (n.276+16546G>A)
c.*220+5998C>T (n.*220+5998C>T)
c.614C>T (p.Ser205Leu)
c.641C>T (p.Ser214Leu)
c.1496C>T (p.Ser499Leu)
c.1310C>T (p.Ser437Leu)
c.1229C>T (p.Ser410Leu)
c.935C>T (p.Ser312Leu)
c.1316C>T (p.Ser439Leu)
 COSMIC
2g.48688226G>CCA346746157GTF2A1L,LHCGR,STON1-GTF2A1Lc.1571C>G (p.Ser524Ter)
c.948-87C>G (n.948-87C>G)
c.3441+16546G>C (n.3441+16546G>C)
c.*315C>G (n.*315C>G)
c.1490C>G (p.Ser497Ter)
c.276+16546G>C (n.276+16546G>C)
c.*220+5998C>G (n.*220+5998C>G)
c.614C>G (p.Ser205Ter)
c.641C>G (p.Ser214Ter)
c.1496C>G (p.Ser499Ter)
c.1310C>G (p.Ser437Ter)
c.1229C>G (p.Ser410Ter)
c.935C>G (p.Ser312Ter)
c.1316C>G (p.Ser439Ter)
2g.48688226G>TCA346746159GTF2A1L,LHCGR,STON1-GTF2A1Lc.1571C>A (p.Ser524Ter)
c.948-87C>A (n.948-87C>A)
c.3441+16546G>T (n.3441+16546G>T)
c.*315C>A (n.*315C>A)
c.1490C>A (p.Ser497Ter)
c.276+16546G>T (n.276+16546G>T)
c.*220+5998C>A (n.*220+5998C>A)
c.614C>A (p.Ser205Ter)
c.641C>A (p.Ser214Ter)
c.1496C>A (p.Ser499Ter)
c.1310C>A (p.Ser437Ter)
c.1229C>A (p.Ser410Ter)
c.935C>A (p.Ser312Ter)
c.1316C>A (p.Ser439Ter)
2g.48688227A>CCA346746161GTF2A1L,LHCGR,STON1-GTF2A1Lc.1570T>G (p.Ser524Ala)
c.948-88T>G (n.948-88T>G)
c.3441+16547A>C (n.3441+16547A>C)
c.*314T>G (n.*314T>G)
c.1489T>G (p.Ser497Ala)
c.276+16547A>C (n.276+16547A>C)
c.*220+5997T>G (n.*220+5997T>G)
c.613T>G (p.Ser205Ala)
c.640T>G (p.Ser214Ala)
c.1495T>G (p.Ser499Ala)
c.1309T>G (p.Ser437Ala)
c.1228T>G (p.Ser410Ala)
c.934T>G (p.Ser312Ala)
c.1315T>G (p.Ser439Ala)
2g.48688227A>GCA346746162GTF2A1L,LHCGR,STON1-GTF2A1Lc.1570T>C (p.Ser524Pro)
c.948-88T>C (n.948-88T>C)
c.3441+16547A>G (n.3441+16547A>G)
c.*314T>C (n.*314T>C)
c.1489T>C (p.Ser497Pro)
c.276+16547A>G (n.276+16547A>G)
c.*220+5997T>C (n.*220+5997T>C)
c.613T>C (p.Ser205Pro)
c.640T>C (p.Ser214Pro)
c.1495T>C (p.Ser499Pro)
c.1309T>C (p.Ser437Pro)
c.1228T>C (p.Ser410Pro)
c.934T>C (p.Ser312Pro)
c.1315T>C (p.Ser439Pro)
2g.48688227A>TCA346746163GTF2A1L,LHCGR,STON1-GTF2A1Lc.1570T>A (p.Ser524Thr)
c.948-88T>A (n.948-88T>A)
c.3441+16547A>T (n.3441+16547A>T)
c.*314T>A (n.*314T>A)
c.1489T>A (p.Ser497Thr)
c.276+16547A>T (n.276+16547A>T)
c.*220+5997T>A (n.*220+5997T>A)
c.613T>A (p.Ser205Thr)
c.640T>A (p.Ser214Thr)
c.1495T>A (p.Ser499Thr)
c.1309T>A (p.Ser437Thr)
c.1228T>A (p.Ser410Thr)
c.934T>A (p.Ser312Thr)
c.1315T>A (p.Ser439Thr)
2g.48688228G>ACA426125391GTF2A1L,LHCGR,STON1-GTF2A1Lc.1569C>T (p.Leu523=)
c.948-89C>T (n.948-89C>T)
c.3441+16548G>A (n.3441+16548G>A)
c.*313C>T (n.*313C>T)
c.1488C>T (p.Leu496=)
c.276+16548G>A (n.276+16548G>A)
c.*220+5996C>T (n.*220+5996C>T)
c.612C>T (p.Leu204=)
c.639C>T (p.Leu213=)
c.1494C>T (p.Leu498=)
c.1308C>T (p.Leu436=)
c.1227C>T (p.Leu409=)
c.933C>T (p.Leu311=)
c.1314C>T (p.Leu438=)
 gnomAD v4
2g.48688228G>CCA426125392GTF2A1L,LHCGR,STON1-GTF2A1Lc.1569C>G (p.Leu523=)
c.948-89C>G (n.948-89C>G)
c.3441+16548G>C (n.3441+16548G>C)
c.*313C>G (n.*313C>G)
c.1488C>G (p.Leu496=)
c.276+16548G>C (n.276+16548G>C)
c.*220+5996C>G (n.*220+5996C>G)
c.612C>G (p.Leu204=)
c.639C>G (p.Leu213=)
c.1494C>G (p.Leu498=)
c.1308C>G (p.Leu436=)
c.1227C>G (p.Leu409=)
c.933C>G (p.Leu311=)
c.1314C>G (p.Leu438=)
2g.48688228G>TCA426125393GTF2A1L,LHCGR,STON1-GTF2A1Lc.1569C>A (p.Leu523=)
c.948-89C>A (n.948-89C>A)
c.3441+16548G>T (n.3441+16548G>T)
c.*313C>A (n.*313C>A)
c.1488C>A (p.Leu496=)
c.276+16548G>T (n.276+16548G>T)
c.*220+5996C>A (n.*220+5996C>A)
c.612C>A (p.Leu204=)
c.639C>A (p.Leu213=)
c.1494C>A (p.Leu498=)
c.1308C>A (p.Leu436=)
c.1227C>A (p.Leu409=)
c.933C>A (p.Leu311=)
c.1314C>A (p.Leu438=)
2g.48688229A>CCA346746169GTF2A1L,LHCGR,STON1-GTF2A1Lc.1568T>G (p.Leu523Arg)
c.948-90T>G (n.948-90T>G)
c.3441+16549A>C (n.3441+16549A>C)
c.*312T>G (n.*312T>G)
c.1487T>G (p.Leu496Arg)
c.276+16549A>C (n.276+16549A>C)
c.*220+5995T>G (n.*220+5995T>G)
c.611T>G (p.Leu204Arg)
c.638T>G (p.Leu213Arg)
c.1493T>G (p.Leu498Arg)
c.1307T>G (p.Leu436Arg)
c.1226T>G (p.Leu409Arg)
c.932T>G (p.Leu311Arg)
c.1313T>G (p.Leu438Arg)
 gnomAD v4
2g.48688229A>GCA346746172GTF2A1L,LHCGR,STON1-GTF2A1Lc.1568T>C (p.Leu523Pro)
c.948-90T>C (n.948-90T>C)
c.3441+16549A>G (n.3441+16549A>G)
c.*312T>C (n.*312T>C)
c.1487T>C (p.Leu496Pro)
c.276+16549A>G (n.276+16549A>G)
c.*220+5995T>C (n.*220+5995T>C)
c.611T>C (p.Leu204Pro)
c.638T>C (p.Leu213Pro)
c.1493T>C (p.Leu498Pro)
c.1307T>C (p.Leu436Pro)
c.1226T>C (p.Leu409Pro)
c.932T>C (p.Leu311Pro)
c.1313T>C (p.Leu438Pro)
2g.48688229A>TCA346746165GTF2A1L,LHCGR,STON1-GTF2A1Lc.1568T>A (p.Leu523His)
c.948-90T>A (n.948-90T>A)
c.3441+16549A>T (n.3441+16549A>T)
c.*312T>A (n.*312T>A)
c.1487T>A (p.Leu496His)
c.276+16549A>T (n.276+16549A>T)
c.*220+5995T>A (n.*220+5995T>A)
c.611T>A (p.Leu204His)
c.638T>A (p.Leu213His)
c.1493T>A (p.Leu498His)
c.1307T>A (p.Leu436His)
c.1226T>A (p.Leu409His)
c.932T>A (p.Leu311His)
c.1313T>A (p.Leu438His)
2g.48688230G>ACA346746177GTF2A1L,LHCGR,STON1-GTF2A1Lc.1567C>T (p.Leu523Phe)
c.948-91C>T (n.948-91C>T)
c.3441+16550G>A (n.3441+16550G>A)
c.*311C>T (n.*311C>T)
c.1486C>T (p.Leu496Phe)
c.276+16550G>A (n.276+16550G>A)
c.*220+5994C>T (n.*220+5994C>T)
c.610C>T (p.Leu204Phe)
c.637C>T (p.Leu213Phe)
c.1492C>T (p.Leu498Phe)
c.1306C>T (p.Leu436Phe)
c.1225C>T (p.Leu409Phe)
c.931C>T (p.Leu311Phe)
c.1312C>T (p.Leu438Phe)
 COSMIC
2g.48688230G>CCA346746176GTF2A1L,LHCGR,STON1-GTF2A1Lc.1567C>G (p.Leu523Val)
c.948-91C>G (n.948-91C>G)
c.3441+16550G>C (n.3441+16550G>C)
c.*311C>G (n.*311C>G)
c.1486C>G (p.Leu496Val)
c.276+16550G>C (n.276+16550G>C)
c.*220+5994C>G (n.*220+5994C>G)
c.610C>G (p.Leu204Val)
c.637C>G (p.Leu213Val)
c.1492C>G (p.Leu498Val)
c.1306C>G (p.Leu436Val)
c.1225C>G (p.Leu409Val)
c.931C>G (p.Leu311Val)
c.1312C>G (p.Leu438Val)
 dbSNP gnomAD v2 gnomAD v4
2g.48688230G=CA1248601041GTF2A1L,LHCGR,STON1-GTF2A1Lc.1567C= (p.Leu523=)
c.948-91C= (n.948-91C=)
c.3441+16550G= (n.3441+16550G=)
c.*311C= (n.*311C=)
c.1486C= (p.Leu496=)
c.276+16550G= (n.276+16550G=)
c.*220+5994C= (n.*220+5994C=)
c.610C= (p.Leu204=)
c.637C= (p.Leu213=)
c.1492C= (p.Leu498=)
c.1306C= (p.Leu436=)
c.1225C= (p.Leu409=)
c.931C= (p.Leu311=)
c.1312C= (p.Leu438=)
2g.48688230G>TCA346746178GTF2A1L,LHCGR,STON1-GTF2A1Lc.1567C>A (p.Leu523Ile)
c.948-91C>A (n.948-91C>A)
c.3441+16550G>T (n.3441+16550G>T)
c.*311C>A (n.*311C>A)
c.1486C>A (p.Leu496Ile)
c.276+16550G>T (n.276+16550G>T)
c.*220+5994C>A (n.*220+5994C>A)
c.610C>A (p.Leu204Ile)
c.637C>A (p.Leu213Ile)
c.1492C>A (p.Leu498Ile)
c.1306C>A (p.Leu436Ile)
c.1225C>A (p.Leu409Ile)
c.931C>A (p.Leu311Ile)
c.1312C>A (p.Leu438Ile)
 gnomAD v4
2g.48688231A>CCA426125403GTF2A1L,LHCGR,STON1-GTF2A1Lc.1566T>G (p.Thr522=)
c.948-92T>G (n.948-92T>G)
c.3441+16551A>C (n.3441+16551A>C)
c.*310T>G (n.*310T>G)
c.1485T>G (p.Thr495=)
c.276+16551A>C (n.276+16551A>C)
c.*220+5993T>G (n.*220+5993T>G)
c.609T>G (p.Thr203=)
c.636T>G (p.Thr212=)
c.1491T>G (p.Thr497=)
c.1305T>G (p.Thr435=)
c.1224T>G (p.Thr408=)
c.930T>G (p.Thr310=)
c.1311T>G (p.Thr437=)
2g.48688231A>GCA426125407GTF2A1L,LHCGR,STON1-GTF2A1Lc.1566T>C (p.Thr522=)
c.948-92T>C (n.948-92T>C)
c.3441+16551A>G (n.3441+16551A>G)
c.*310T>C (n.*310T>C)
c.1485T>C (p.Thr495=)
c.276+16551A>G (n.276+16551A>G)
c.*220+5993T>C (n.*220+5993T>C)
c.609T>C (p.Thr203=)
c.636T>C (p.Thr212=)
c.1491T>C (p.Thr497=)
c.1305T>C (p.Thr435=)
c.1224T>C (p.Thr408=)
c.930T>C (p.Thr310=)
c.1311T>C (p.Thr437=)
2g.48688231A>TCA426125409GTF2A1L,LHCGR,STON1-GTF2A1Lc.1566T>A (p.Thr522=)
c.948-92T>A (n.948-92T>A)
c.3441+16551A>T (n.3441+16551A>T)
c.*310T>A (n.*310T>A)
c.1485T>A (p.Thr495=)
c.276+16551A>T (n.276+16551A>T)
c.*220+5993T>A (n.*220+5993T>A)
c.609T>A (p.Thr203=)
c.636T>A (p.Thr212=)
c.1491T>A (p.Thr497=)
c.1305T>A (p.Thr435=)
c.1224T>A (p.Thr408=)
c.930T>A (p.Thr310=)
c.1311T>A (p.Thr437=)
 gnomAD v4
2g.48688232G>ACA346746179GTF2A1L,LHCGR,STON1-GTF2A1Lc.1565C>T (p.Thr522Ile)
c.948-93C>T (n.948-93C>T)
c.3441+16552G>A (n.3441+16552G>A)
c.*309C>T (n.*309C>T)
c.1484C>T (p.Thr495Ile)
c.276+16552G>A (n.276+16552G>A)
c.*220+5992C>T (n.*220+5992C>T)
c.608C>T (p.Thr203Ile)
c.635C>T (p.Thr212Ile)
c.1490C>T (p.Thr497Ile)
c.1304C>T (p.Thr435Ile)
c.1223C>T (p.Thr408Ile)
c.929C>T (p.Thr310Ile)
c.1310C>T (p.Thr437Ile)
 COSMIC
2g.48688232G>CCA1653018GTF2A1L,LHCGR,STON1-GTF2A1Lc.1565C>G (p.Thr522Ser)
c.948-93C>G (n.948-93C>G)
c.3441+16552G>C (n.3441+16552G>C)
c.*309C>G (n.*309C>G)
c.1484C>G (p.Thr495Ser)
c.276+16552G>C (n.276+16552G>C)
c.*220+5992C>G (n.*220+5992C>G)
c.608C>G (p.Thr203Ser)
c.635C>G (p.Thr212Ser)
c.1490C>G (p.Thr497Ser)
c.1304C>G (p.Thr435Ser)
c.1223C>G (p.Thr408Ser)
c.929C>G (p.Thr310Ser)
c.1310C>G (p.Thr437Ser)
 dbSNP ExAC gnomAD v2
2g.48688232G=CA1248601042GTF2A1L,LHCGR,STON1-GTF2A1Lc.1565C= (p.Thr522=)
c.948-93C= (n.948-93C=)
c.3441+16552G= (n.3441+16552G=)
c.*309C= (n.*309C=)
c.1484C= (p.Thr495=)
c.276+16552G= (n.276+16552G=)
c.*220+5992C= (n.*220+5992C=)
c.608C= (p.Thr203=)
c.635C= (p.Thr212=)
c.1490C= (p.Thr497=)
c.1304C= (p.Thr435=)
c.1223C= (p.Thr408=)
c.929C= (p.Thr310=)
c.1310C= (p.Thr437=)
2g.48688232G>TCA346746181GTF2A1L,LHCGR,STON1-GTF2A1Lc.1565C>A (p.Thr522Asn)
c.948-93C>A (n.948-93C>A)
c.3441+16552G>T (n.3441+16552G>T)
c.*309C>A (n.*309C>A)
c.1484C>A (p.Thr495Asn)
c.276+16552G>T (n.276+16552G>T)
c.*220+5992C>A (n.*220+5992C>A)
c.608C>A (p.Thr203Asn)
c.635C>A (p.Thr212Asn)
c.1490C>A (p.Thr497Asn)
c.1304C>A (p.Thr435Asn)
c.1223C>A (p.Thr408Asn)
c.929C>A (p.Thr310Asn)
c.1310C>A (p.Thr437Asn)
2g.48688233T>ACA346746191GTF2A1L,LHCGR,STON1-GTF2A1Lc.1564A>T (p.Thr522Ser)
c.948-94A>T (n.948-94A>T)
c.3441+16553T>A (n.3441+16553T>A)
c.*308A>T (n.*308A>T)
c.1483A>T (p.Thr495Ser)
c.276+16553T>A (n.276+16553T>A)
c.*220+5991A>T (n.*220+5991A>T)
c.607A>T (p.Thr203Ser)
c.634A>T (p.Thr212Ser)
c.1489A>T (p.Thr497Ser)
c.1303A>T (p.Thr435Ser)
c.1222A>T (p.Thr408Ser)
c.928A>T (p.Thr310Ser)
c.1309A>T (p.Thr437Ser)
2g.48688233T>CCA346746195GTF2A1L,LHCGR,STON1-GTF2A1Lc.1564A>G (p.Thr522Ala)
c.948-94A>G (n.948-94A>G)
c.3441+16553T>C (n.3441+16553T>C)
c.*308A>G (n.*308A>G)
c.1483A>G (p.Thr495Ala)
c.276+16553T>C (n.276+16553T>C)
c.*220+5991A>G (n.*220+5991A>G)
c.607A>G (p.Thr203Ala)
c.634A>G (p.Thr212Ala)
c.1489A>G (p.Thr497Ala)
c.1303A>G (p.Thr435Ala)
c.1222A>G (p.Thr408Ala)
c.928A>G (p.Thr310Ala)
c.1309A>G (p.Thr437Ala)
2g.48688233T>GCA346746198GTF2A1L,LHCGR,STON1-GTF2A1Lc.1564A>C (p.Thr522Pro)
c.948-94A>C (n.948-94A>C)
c.3441+16553T>G (n.3441+16553T>G)
c.*308A>C (n.*308A>C)
c.1483A>C (p.Thr495Pro)
c.276+16553T>G (n.276+16553T>G)
c.*220+5991A>C (n.*220+5991A>C)
c.607A>C (p.Thr203Pro)
c.634A>C (p.Thr212Pro)
c.1489A>C (p.Thr497Pro)
c.1303A>C (p.Thr435Pro)
c.1222A>C (p.Thr408Pro)
c.928A>C (p.Thr310Pro)
c.1309A>C (p.Thr437Pro)
2g.48688234G>ACA426125411GTF2A1L,LHCGR,STON1-GTF2A1Lc.1563C>T (p.Thr521=)
c.948-95C>T (n.948-95C>T)
c.3441+16554G>A (n.3441+16554G>A)
c.*307C>T (n.*307C>T)
c.1482C>T (p.Thr494=)
c.276+16554G>A (n.276+16554G>A)
c.*220+5990C>T (n.*220+5990C>T)
c.606C>T (p.Thr202=)
c.633C>T (p.Thr211=)
c.1488C>T (p.Thr496=)
c.1302C>T (p.Thr434=)
c.1221C>T (p.Thr407=)
c.927C>T (p.Thr309=)
c.1308C>T (p.Thr436=)
 dbSNP gnomAD v2 gnomAD v4
2g.48688234G>CCA426125414GTF2A1L,LHCGR,STON1-GTF2A1Lc.1563C>G (p.Thr521=)
c.948-95C>G (n.948-95C>G)
c.3441+16554G>C (n.3441+16554G>C)
c.*307C>G (n.*307C>G)
c.1482C>G (p.Thr494=)
c.276+16554G>C (n.276+16554G>C)
c.*220+5990C>G (n.*220+5990C>G)
c.606C>G (p.Thr202=)
c.633C>G (p.Thr211=)
c.1488C>G (p.Thr496=)
c.1302C>G (p.Thr434=)
c.1221C>G (p.Thr407=)
c.927C>G (p.Thr309=)
c.1308C>G (p.Thr436=)
2g.48688234G=CA1248601043GTF2A1L,LHCGR,STON1-GTF2A1Lc.1563C= (p.Thr521=)
c.948-95C= (n.948-95C=)
c.3441+16554G= (n.3441+16554G=)
c.*307C= (n.*307C=)
c.1482C= (p.Thr494=)
c.276+16554G= (n.276+16554G=)
c.*220+5990C= (n.*220+5990C=)
c.606C= (p.Thr202=)
c.633C= (p.Thr211=)
c.1488C= (p.Thr496=)
c.1302C= (p.Thr434=)
c.1221C= (p.Thr407=)
c.927C= (p.Thr309=)
c.1308C= (p.Thr436=)
2g.48688234G>TCA426125416GTF2A1L,LHCGR,STON1-GTF2A1Lc.1563C>A (p.Thr521=)
c.948-95C>A (n.948-95C>A)
c.3441+16554G>T (n.3441+16554G>T)
c.*307C>A (n.*307C>A)
c.1482C>A (p.Thr494=)
c.276+16554G>T (n.276+16554G>T)
c.*220+5990C>A (n.*220+5990C>A)
c.606C>A (p.Thr202=)
c.633C>A (p.Thr211=)
c.1488C>A (p.Thr496=)
c.1302C>A (p.Thr434=)
c.1221C>A (p.Thr407=)
c.927C>A (p.Thr309=)
c.1308C>A (p.Thr436=)
2g.48688235G>ACA346746205GTF2A1L,LHCGR,STON1-GTF2A1Lc.1562C>T (p.Thr521Ile)
c.948-96C>T (n.948-96C>T)
c.3441+16555G>A (n.3441+16555G>A)
c.*306C>T (n.*306C>T)
c.1481C>T (p.Thr494Ile)
c.276+16555G>A (n.276+16555G>A)
c.*220+5989C>T (n.*220+5989C>T)
c.605C>T (p.Thr202Ile)
c.632C>T (p.Thr211Ile)
c.1487C>T (p.Thr496Ile)
c.1301C>T (p.Thr434Ile)
c.1220C>T (p.Thr407Ile)
c.926C>T (p.Thr309Ile)
c.1307C>T (p.Thr436Ile)
2g.48688235G>CCA346746207GTF2A1L,LHCGR,STON1-GTF2A1Lc.1562C>G (p.Thr521Ser)
c.948-96C>G (n.948-96C>G)
c.3441+16555G>C (n.3441+16555G>C)
c.*306C>G (n.*306C>G)
c.1481C>G (p.Thr494Ser)
c.276+16555G>C (n.276+16555G>C)
c.*220+5989C>G (n.*220+5989C>G)
c.605C>G (p.Thr202Ser)
c.632C>G (p.Thr211Ser)
c.1487C>G (p.Thr496Ser)
c.1301C>G (p.Thr434Ser)
c.1220C>G (p.Thr407Ser)
c.926C>G (p.Thr309Ser)
c.1307C>G (p.Thr436Ser)
2g.48688235G=CA1248601044GTF2A1L,LHCGR,STON1-GTF2A1Lc.1562C= (p.Thr521=)
c.948-96C= (n.948-96C=)
c.3441+16555G= (n.3441+16555G=)
c.*306C= (n.*306C=)
c.1481C= (p.Thr494=)
c.276+16555G= (n.276+16555G=)
c.*220+5989C= (n.*220+5989C=)
c.605C= (p.Thr202=)
c.632C= (p.Thr211=)
c.1487C= (p.Thr496=)
c.1301C= (p.Thr434=)
c.1220C= (p.Thr407=)
c.926C= (p.Thr309=)
c.1307C= (p.Thr436=)
2g.48688235G>TCA346746220GTF2A1L,LHCGR,STON1-GTF2A1Lc.1562C>A (p.Thr521Asn)
c.948-96C>A (n.948-96C>A)
c.3441+16555G>T (n.3441+16555G>T)
c.*306C>A (n.*306C>A)
c.1481C>A (p.Thr494Asn)
c.276+16555G>T (n.276+16555G>T)
c.*220+5989C>A (n.*220+5989C>A)
c.605C>A (p.Thr202Asn)
c.632C>A (p.Thr211Asn)
c.1487C>A (p.Thr496Asn)
c.1301C>A (p.Thr434Asn)
c.1220C>A (p.Thr407Asn)
c.926C>A (p.Thr309Asn)
c.1307C>A (p.Thr436Asn)
 dbSNP COSMIC
2g.48688236T>ACA346746223GTF2A1L,LHCGR,STON1-GTF2A1Lc.1561A>T (p.Thr521Ser)
c.948-97A>T (n.948-97A>T)
c.3441+16556T>A (n.3441+16556T>A)
c.*305A>T (n.*305A>T)
c.1480A>T (p.Thr494Ser)
c.276+16556T>A (n.276+16556T>A)
c.*220+5988A>T (n.*220+5988A>T)
c.604A>T (p.Thr202Ser)
c.631A>T (p.Thr211Ser)
c.1486A>T (p.Thr496Ser)
c.1300A>T (p.Thr434Ser)
c.1219A>T (p.Thr407Ser)
c.925A>T (p.Thr309Ser)
c.1306A>T (p.Thr436Ser)
2g.48688236T>CCA346746227GTF2A1L,LHCGR,STON1-GTF2A1Lc.1561A>G (p.Thr521Ala)
c.948-97A>G (n.948-97A>G)
c.3441+16556T>C (n.3441+16556T>C)
c.*305A>G (n.*305A>G)
c.1480A>G (p.Thr494Ala)
c.276+16556T>C (n.276+16556T>C)
c.*220+5988A>G (n.*220+5988A>G)
c.604A>G (p.Thr202Ala)
c.631A>G (p.Thr211Ala)
c.1486A>G (p.Thr496Ala)
c.1300A>G (p.Thr434Ala)
c.1219A>G (p.Thr407Ala)
c.925A>G (p.Thr309Ala)
c.1306A>G (p.Thr436Ala)
 gnomAD v4
2g.48688236T>GCA346746230GTF2A1L,LHCGR,STON1-GTF2A1Lc.1561A>C (p.Thr521Pro)
c.948-97A>C (n.948-97A>C)
c.3441+16556T>G (n.3441+16556T>G)
c.*305A>C (n.*305A>C)
c.1480A>C (p.Thr494Pro)
c.276+16556T>G (n.276+16556T>G)
c.*220+5988A>C (n.*220+5988A>C)
c.604A>C (p.Thr202Pro)
c.631A>C (p.Thr211Pro)
c.1486A>C (p.Thr496Pro)
c.1300A>C (p.Thr434Pro)
c.1219A>C (p.Thr407Pro)
c.925A>C (p.Thr309Pro)
c.1306A>C (p.Thr436Pro)
 gnomAD v3 gnomAD v4
2g.48688237T>ACA346746234GTF2A1L,LHCGR,STON1-GTF2A1Lc.1560A>T (p.Glu520Asp)
c.948-98A>T (n.948-98A>T)
c.3441+16557T>A (n.3441+16557T>A)
c.*304A>T (n.*304A>T)
c.1479A>T (p.Glu493Asp)
c.276+16557T>A (n.276+16557T>A)
c.*220+5987A>T (n.*220+5987A>T)
c.603A>T (p.Glu201Asp)
c.630A>T (p.Glu210Asp)
c.1485A>T (p.Glu495Asp)
c.1299A>T (p.Glu433Asp)
c.1218A>T (p.Glu406Asp)
c.924A>T (p.Glu308Asp)
c.1305A>T (p.Glu435Asp)
2g.48688237T>CCA426125421GTF2A1L,LHCGR,STON1-GTF2A1Lc.1560A>G (p.Glu520=)
c.948-98A>G (n.948-98A>G)
c.3441+16557T>C (n.3441+16557T>C)
c.*304A>G (n.*304A>G)
c.1479A>G (p.Glu493=)
c.276+16557T>C (n.276+16557T>C)
c.*220+5987A>G (n.*220+5987A>G)
c.603A>G (p.Glu201=)
c.630A>G (p.Glu210=)
c.1485A>G (p.Glu495=)
c.1299A>G (p.Glu433=)
c.1218A>G (p.Glu406=)
c.924A>G (p.Glu308=)
c.1305A>G (p.Glu435=)
2g.48688237T>GCA346746231GTF2A1L,LHCGR,STON1-GTF2A1Lc.1560A>C (p.Glu520Asp)
c.948-98A>C (n.948-98A>C)
c.3441+16557T>G (n.3441+16557T>G)
c.*304A>C (n.*304A>C)
c.1479A>C (p.Glu493Asp)
c.276+16557T>G (n.276+16557T>G)
c.*220+5987A>C (n.*220+5987A>C)
c.603A>C (p.Glu201Asp)
c.630A>C (p.Glu210Asp)
c.1485A>C (p.Glu495Asp)
c.1299A>C (p.Glu433Asp)
c.1218A>C (p.Glu406Asp)
c.924A>C (p.Glu308Asp)
c.1305A>C (p.Glu435Asp)
 gnomAD v4
2g.48688238T>ACA346746238GTF2A1L,LHCGR,STON1-GTF2A1Lc.1559A>T (p.Glu520Val)
c.948-99A>T (n.948-99A>T)
c.3441+16558T>A (n.3441+16558T>A)
c.*303A>T (n.*303A>T)
c.1478A>T (p.Glu493Val)
c.276+16558T>A (n.276+16558T>A)
c.*220+5986A>T (n.*220+5986A>T)
c.602A>T (p.Glu201Val)
c.629A>T (p.Glu210Val)
c.1484A>T (p.Glu495Val)
c.1298A>T (p.Glu433Val)
c.1217A>T (p.Glu406Val)
c.923A>T (p.Glu308Val)
c.1304A>T (p.Glu435Val)
2g.48688238T>CCA346746241GTF2A1L,LHCGR,STON1-GTF2A1Lc.1559A>G (p.Glu520Gly)
c.948-99A>G (n.948-99A>G)
c.3441+16558T>C (n.3441+16558T>C)
c.*303A>G (n.*303A>G)
c.1478A>G (p.Glu493Gly)
c.276+16558T>C (n.276+16558T>C)
c.*220+5986A>G (n.*220+5986A>G)
c.602A>G (p.Glu201Gly)
c.629A>G (p.Glu210Gly)
c.1484A>G (p.Glu495Gly)
c.1298A>G (p.Glu433Gly)
c.1217A>G (p.Glu406Gly)
c.923A>G (p.Glu308Gly)
c.1304A>G (p.Glu435Gly)
2g.48688238T>GCA346746244GTF2A1L,LHCGR,STON1-GTF2A1Lc.1559A>C (p.Glu520Ala)
c.948-99A>C (n.948-99A>C)
c.3441+16558T>G (n.3441+16558T>G)
c.*303A>C (n.*303A>C)
c.1478A>C (p.Glu493Ala)
c.276+16558T>G (n.276+16558T>G)
c.*220+5986A>C (n.*220+5986A>C)
c.602A>C (p.Glu201Ala)
c.629A>C (p.Glu210Ala)
c.1484A>C (p.Glu495Ala)
c.1298A>C (p.Glu433Ala)
c.1217A>C (p.Glu406Ala)
c.923A>C (p.Glu308Ala)
c.1304A>C (p.Glu435Ala)
2g.48688239C>ACA346746248GTF2A1L,LHCGR,STON1-GTF2A1Lc.1558G>T (p.Glu520Ter)
c.948-100G>T (n.948-100G>T)
c.3441+16559C>A (n.3441+16559C>A)
c.*302G>T (n.*302G>T)
c.1477G>T (p.Glu493Ter)
c.276+16559C>A (n.276+16559C>A)
c.*220+5985G>T (n.*220+5985G>T)
c.601G>T (p.Glu201Ter)
c.628G>T (p.Glu210Ter)
c.1483G>T (p.Glu495Ter)
c.1297G>T (p.Glu433Ter)
c.1216G>T (p.Glu406Ter)
c.922G>T (p.Glu308Ter)
c.1303G>T (p.Glu435Ter)
2g.48688239C>GCA346746251GTF2A1L,LHCGR,STON1-GTF2A1Lc.1558G>C (p.Glu520Gln)
c.948-100G>C (n.948-100G>C)
c.3441+16559C>G (n.3441+16559C>G)
c.*302G>C (n.*302G>C)
c.1477G>C (p.Glu493Gln)
c.276+16559C>G (n.276+16559C>G)
c.*220+5985G>C (n.*220+5985G>C)
c.601G>C (p.Glu201Gln)
c.628G>C (p.Glu210Gln)
c.1483G>C (p.Glu495Gln)
c.1297G>C (p.Glu433Gln)
c.1216G>C (p.Glu406Gln)
c.922G>C (p.Glu308Gln)
c.1303G>C (p.Glu435Gln)
 gnomAD v4
2g.48688239C>TCA346746252GTF2A1L,LHCGR,STON1-GTF2A1Lc.1558G>A (p.Glu520Lys)
c.948-100G>A (n.948-100G>A)
c.3441+16559C>T (n.3441+16559C>T)
c.*302G>A (n.*302G>A)
c.1477G>A (p.Glu493Lys)
c.276+16559C>T (n.276+16559C>T)
c.*220+5985G>A (n.*220+5985G>A)
c.601G>A (p.Glu201Lys)
c.628G>A (p.Glu210Lys)
c.1483G>A (p.Glu495Lys)
c.1297G>A (p.Glu433Lys)
c.1216G>A (p.Glu406Lys)
c.922G>A (p.Glu308Lys)
c.1303G>A (p.Glu435Lys)
2g.48688240C>ACA426125431GTF2A1L,LHCGR,STON1-GTF2A1Lc.1557G>T (p.Val519=)
c.948-101G>T (n.948-101G>T)
c.3441+16560C>A (n.3441+16560C>A)
c.*301G>T (n.*301G>T)
c.1476G>T (p.Val492=)
c.276+16560C>A (n.276+16560C>A)
c.*220+5984G>T (n.*220+5984G>T)
c.600G>T (p.Val200=)
c.627G>T (p.Val209=)
c.1482G>T (p.Val494=)
c.1296G>T (p.Val432=)
c.1215G>T (p.Val405=)
c.921G>T (p.Val307=)
c.1302G>T (p.Val434=)
2g.48688240C=CA1248601045GTF2A1L,LHCGR,STON1-GTF2A1Lc.1557G= (p.Val519=)
c.948-101G= (n.948-101G=)
c.3441+16560C= (n.3441+16560C=)
c.*301G= (n.*301G=)
c.1476G= (p.Val492=)
c.276+16560C= (n.276+16560C=)
c.*220+5984G= (n.*220+5984G=)
c.600G= (p.Val200=)
c.627G= (p.Val209=)
c.1482G= (p.Val494=)
c.1296G= (p.Val432=)
c.1215G= (p.Val405=)
c.921G= (p.Val307=)
c.1302G= (p.Val434=)
2g.48688240C>GCA426125432GTF2A1L,LHCGR,STON1-GTF2A1Lc.1557G>C (p.Val519=)
c.948-101G>C (n.948-101G>C)
c.3441+16560C>G (n.3441+16560C>G)
c.*301G>C (n.*301G>C)
c.1476G>C (p.Val492=)
c.276+16560C>G (n.276+16560C>G)
c.*220+5984G>C (n.*220+5984G>C)
c.600G>C (p.Val200=)
c.627G>C (p.Val209=)
c.1482G>C (p.Val494=)
c.1296G>C (p.Val432=)
c.1215G>C (p.Val405=)
c.921G>C (p.Val307=)
c.1302G>C (p.Val434=)
2g.48688240C>TCA46752909GTF2A1L,LHCGR,STON1-GTF2A1Lc.1557G>A (p.Val519=)
c.948-101G>A (n.948-101G>A)
c.3441+16560C>T (n.3441+16560C>T)
c.*301G>A (n.*301G>A)
c.1476G>A (p.Val492=)
c.276+16560C>T (n.276+16560C>T)
c.*220+5984G>A (n.*220+5984G>A)
c.600G>A (p.Val200=)
c.627G>A (p.Val209=)
c.1482G>A (p.Val494=)
c.1296G>A (p.Val432=)
c.1215G>A (p.Val405=)
c.921G>A (p.Val307=)
c.1302G>A (p.Val434=)
 dbSNP
2g.48688241A=CA1248601046GTF2A1L,LHCGR,STON1-GTF2A1Lc.1556T= (p.Val519=)
c.948-102T= (n.948-102T=)
c.3441+16561A= (n.3441+16561A=)
c.*300T= (n.*300T=)
c.1475T= (p.Val492=)
c.276+16561A= (n.276+16561A=)
c.*220+5983T= (n.*220+5983T=)
c.599T= (p.Val200=)
c.626T= (p.Val209=)
c.1481T= (p.Val494=)
c.1295T= (p.Val432=)
c.1214T= (p.Val405=)
c.920T= (p.Val307=)
c.1301T= (p.Val434=)
2g.48688241A>CCA346746270GTF2A1L,LHCGR,STON1-GTF2A1Lc.1556T>G (p.Val519Gly)
c.948-102T>G (n.948-102T>G)
c.3441+16561A>C (n.3441+16561A>C)
c.*300T>G (n.*300T>G)
c.1475T>G (p.Val492Gly)
c.276+16561A>C (n.276+16561A>C)
c.*220+5983T>G (n.*220+5983T>G)
c.599T>G (p.Val200Gly)
c.626T>G (p.Val209Gly)
c.1481T>G (p.Val494Gly)
c.1295T>G (p.Val432Gly)
c.1214T>G (p.Val405Gly)
c.920T>G (p.Val307Gly)
c.1301T>G (p.Val434Gly)
2g.48688241A>GCA346746276GTF2A1L,LHCGR,STON1-GTF2A1Lc.1556T>C (p.Val519Ala)
c.948-102T>C (n.948-102T>C)
c.3441+16561A>G (n.3441+16561A>G)
c.*300T>C (n.*300T>C)
c.1475T>C (p.Val492Ala)
c.276+16561A>G (n.276+16561A>G)
c.*220+5983T>C (n.*220+5983T>C)
c.599T>C (p.Val200Ala)
c.626T>C (p.Val209Ala)
c.1481T>C (p.Val494Ala)
c.1295T>C (p.Val432Ala)
c.1214T>C (p.Val405Ala)
c.920T>C (p.Val307Ala)
c.1301T>C (p.Val434Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48688241A>TCA346746279GTF2A1L,LHCGR,STON1-GTF2A1Lc.1556T>A (p.Val519Glu)
c.948-102T>A (n.948-102T>A)
c.3441+16561A>T (n.3441+16561A>T)
c.*300T>A (n.*300T>A)
c.1475T>A (p.Val492Glu)
c.276+16561A>T (n.276+16561A>T)
c.*220+5983T>A (n.*220+5983T>A)
c.599T>A (p.Val200Glu)
c.626T>A (p.Val209Glu)
c.1481T>A (p.Val494Glu)
c.1295T>A (p.Val432Glu)
c.1214T>A (p.Val405Glu)
c.920T>A (p.Val307Glu)
c.1301T>A (p.Val434Glu)
2g.48688242C>ACA346746282GTF2A1L,LHCGR,STON1-GTF2A1Lc.1555G>T (p.Val519Leu)
c.948-103G>T (n.948-103G>T)
c.3441+16562C>A (n.3441+16562C>A)
c.*299G>T (n.*299G>T)
c.1474G>T (p.Val492Leu)
c.276+16562C>A (n.276+16562C>A)
c.*220+5982G>T (n.*220+5982G>T)
c.598G>T (p.Val200Leu)
c.625G>T (p.Val209Leu)
c.1480G>T (p.Val494Leu)
c.1294G>T (p.Val432Leu)
c.1213G>T (p.Val405Leu)
c.919G>T (p.Val307Leu)
c.1300G>T (p.Val434Leu)
 dbSNP gnomAD v3 gnomAD v4
2g.48688242C=CA1248601047GTF2A1L,LHCGR,STON1-GTF2A1Lc.1555G= (p.Val519=)
c.948-103G= (n.948-103G=)
c.3441+16562C= (n.3441+16562C=)
c.*299G= (n.*299G=)
c.1474G= (p.Val492=)
c.276+16562C= (n.276+16562C=)
c.*220+5982G= (n.*220+5982G=)
c.598G= (p.Val200=)
c.625G= (p.Val209=)
c.1480G= (p.Val494=)
c.1294G= (p.Val432=)
c.1213G= (p.Val405=)
c.919G= (p.Val307=)
c.1300G= (p.Val434=)
2g.48688242C>GCA346746284GTF2A1L,LHCGR,STON1-GTF2A1Lc.1555G>C (p.Val519Leu)
c.948-103G>C (n.948-103G>C)
c.3441+16562C>G (n.3441+16562C>G)
c.*299G>C (n.*299G>C)
c.1474G>C (p.Val492Leu)
c.276+16562C>G (n.276+16562C>G)
c.*220+5982G>C (n.*220+5982G>C)
c.598G>C (p.Val200Leu)
c.625G>C (p.Val209Leu)
c.1480G>C (p.Val494Leu)
c.1294G>C (p.Val432Leu)
c.1213G>C (p.Val405Leu)
c.919G>C (p.Val307Leu)
c.1300G>C (p.Val434Leu)
2g.48688242C>TCA346746287GTF2A1L,LHCGR,STON1-GTF2A1Lc.1555G>A (p.Val519Met)
c.948-103G>A (n.948-103G>A)
c.3441+16562C>T (n.3441+16562C>T)
c.*299G>A (n.*299G>A)
c.1474G>A (p.Val492Met)
c.276+16562C>T (n.276+16562C>T)
c.*220+5982G>A (n.*220+5982G>A)
c.598G>A (p.Val200Met)
c.625G>A (p.Val209Met)
c.1480G>A (p.Val494Met)
c.1294G>A (p.Val432Met)
c.1213G>A (p.Val405Met)
c.919G>A (p.Val307Met)
c.1300G>A (p.Val434Met)
2g.48688243A>CCA346746296GTF2A1L,LHCGR,STON1-GTF2A1Lc.1554T>G (p.Asp518Glu)
c.948-104T>G (n.948-104T>G)
c.3441+16563A>C (n.3441+16563A>C)
c.*298T>G (n.*298T>G)
c.1473T>G (p.Asp491Glu)
c.276+16563A>C (n.276+16563A>C)
c.*220+5981T>G (n.*220+5981T>G)
c.597T>G (p.Asp199Glu)
c.624T>G (p.Asp208Glu)
c.1479T>G (p.Asp493Glu)
c.1293T>G (p.Asp431Glu)
c.1212T>G (p.Asp404Glu)
c.918T>G (p.Asp306Glu)
c.1299T>G (p.Asp433Glu)
2g.48688243A>GCA426125437GTF2A1L,LHCGR,STON1-GTF2A1Lc.1554T>C (p.Asp518=)
c.948-104T>C (n.948-104T>C)
c.3441+16563A>G (n.3441+16563A>G)
c.*298T>C (n.*298T>C)
c.1473T>C (p.Asp491=)
c.276+16563A>G (n.276+16563A>G)
c.*220+5981T>C (n.*220+5981T>C)
c.597T>C (p.Asp199=)
c.624T>C (p.Asp208=)
c.1479T>C (p.Asp493=)
c.1293T>C (p.Asp431=)
c.1212T>C (p.Asp404=)
c.918T>C (p.Asp306=)
c.1299T>C (p.Asp433=)
2g.48688243A>TCA346746290GTF2A1L,LHCGR,STON1-GTF2A1Lc.1554T>A (p.Asp518Glu)
c.948-104T>A (n.948-104T>A)
c.3441+16563A>T (n.3441+16563A>T)
c.*298T>A (n.*298T>A)
c.1473T>A (p.Asp491Glu)
c.276+16563A>T (n.276+16563A>T)
c.*220+5981T>A (n.*220+5981T>A)
c.597T>A (p.Asp199Glu)
c.624T>A (p.Asp208Glu)
c.1479T>A (p.Asp493Glu)
c.1293T>A (p.Asp431Glu)
c.1212T>A (p.Asp404Glu)
c.918T>A (p.Asp306Glu)
c.1299T>A (p.Asp433Glu)
2g.48688244T>ACA46752910GTF2A1L,LHCGR,STON1-GTF2A1Lc.1553A>T (p.Asp518Val)
c.948-105A>T (n.948-105A>T)
c.3441+16564T>A (n.3441+16564T>A)
c.*297A>T (n.*297A>T)
c.1472A>T (p.Asp491Val)
c.276+16564T>A (n.276+16564T>A)
c.*220+5980A>T (n.*220+5980A>T)
c.596A>T (p.Asp199Val)
c.623A>T (p.Asp208Val)
c.1478A>T (p.Asp493Val)
c.1292A>T (p.Asp431Val)
c.1211A>T (p.Asp404Val)
c.917A>T (p.Asp306Val)
c.1298A>T (p.Asp433Val)
 dbSNP gnomAD v3 gnomAD v4
2g.48688244T>CCA346746302GTF2A1L,LHCGR,STON1-GTF2A1Lc.1553A>G (p.Asp518Gly)
c.948-105A>G (n.948-105A>G)
c.3441+16564T>C (n.3441+16564T>C)
c.*297A>G (n.*297A>G)
c.1472A>G (p.Asp491Gly)
c.276+16564T>C (n.276+16564T>C)
c.*220+5980A>G (n.*220+5980A>G)
c.596A>G (p.Asp199Gly)
c.623A>G (p.Asp208Gly)
c.1478A>G (p.Asp493Gly)
c.1292A>G (p.Asp431Gly)
c.1211A>G (p.Asp404Gly)
c.917A>G (p.Asp306Gly)
c.1298A>G (p.Asp433Gly)
2g.48688244T>GCA346746316GTF2A1L,LHCGR,STON1-GTF2A1Lc.1553A>C (p.Asp518Ala)
c.948-105A>C (n.948-105A>C)
c.3441+16564T>G (n.3441+16564T>G)
c.*297A>C (n.*297A>C)
c.1472A>C (p.Asp491Ala)
c.276+16564T>G (n.276+16564T>G)
c.*220+5980A>C (n.*220+5980A>C)
c.596A>C (p.Asp199Ala)
c.623A>C (p.Asp208Ala)
c.1478A>C (p.Asp493Ala)
c.1292A>C (p.Asp431Ala)
c.1211A>C (p.Asp404Ala)
c.917A>C (p.Asp306Ala)
c.1298A>C (p.Asp433Ala)
2g.48688244T=CA1248601048GTF2A1L,LHCGR,STON1-GTF2A1Lc.1553A= (p.Asp518=)
c.948-105A= (n.948-105A=)
c.3441+16564T= (n.3441+16564T=)
c.*297A= (n.*297A=)
c.1472A= (p.Asp491=)
c.276+16564T= (n.276+16564T=)
c.*220+5980A= (n.*220+5980A=)
c.596A= (p.Asp199=)
c.623A= (p.Asp208=)
c.1478A= (p.Asp493=)
c.1292A= (p.Asp431=)
c.1211A= (p.Asp404=)
c.917A= (p.Asp306=)
c.1298A= (p.Asp433=)
2g.48688245C>ACA346746319GTF2A1L,LHCGR,STON1-GTF2A1Lc.1552G>T (p.Asp518Tyr)
c.948-106G>T (n.948-106G>T)
c.3441+16565C>A (n.3441+16565C>A)
c.*296G>T (n.*296G>T)
c.1471G>T (p.Asp491Tyr)
c.276+16565C>A (n.276+16565C>A)
c.*220+5979G>T (n.*220+5979G>T)
c.595G>T (p.Asp199Tyr)
c.622G>T (p.Asp208Tyr)
c.1477G>T (p.Asp493Tyr)
c.1291G>T (p.Asp431Tyr)
c.1210G>T (p.Asp404Tyr)
c.916G>T (p.Asp306Tyr)
c.1297G>T (p.Asp433Tyr)
2g.48688245C>GCA346746322GTF2A1L,LHCGR,STON1-GTF2A1Lc.1552G>C (p.Asp518His)
c.948-106G>C (n.948-106G>C)
c.3441+16565C>G (n.3441+16565C>G)
c.*296G>C (n.*296G>C)
c.1471G>C (p.Asp491His)
c.276+16565C>G (n.276+16565C>G)
c.*220+5979G>C (n.*220+5979G>C)
c.595G>C (p.Asp199His)
c.622G>C (p.Asp208His)
c.1477G>C (p.Asp493His)
c.1291G>C (p.Asp431His)
c.1210G>C (p.Asp404His)
c.916G>C (p.Asp306His)
c.1297G>C (p.Asp433His)
2g.48688245C>TCA346746325GTF2A1L,LHCGR,STON1-GTF2A1Lc.1552G>A (p.Asp518Asn)
c.948-106G>A (n.948-106G>A)
c.3441+16565C>T (n.3441+16565C>T)
c.*296G>A (n.*296G>A)
c.1471G>A (p.Asp491Asn)
c.276+16565C>T (n.276+16565C>T)
c.*220+5979G>A (n.*220+5979G>A)
c.595G>A (p.Asp199Asn)
c.622G>A (p.Asp208Asn)
c.1477G>A (p.Asp493Asn)
c.1291G>A (p.Asp431Asn)
c.1210G>A (p.Asp404Asn)
c.916G>A (p.Asp306Asn)
c.1297G>A (p.Asp433Asn)
2g.48688246C>ACA346746327GTF2A1L,LHCGR,STON1-GTF2A1Lc.1551G>T (p.Met517Ile)
c.948-107G>T (n.948-107G>T)
c.3441+16566C>A (n.3441+16566C>A)
c.*295G>T (n.*295G>T)
c.1470G>T (p.Met490Ile)
c.276+16566C>A (n.276+16566C>A)
c.*220+5978G>T (n.*220+5978G>T)
c.594G>T (p.Met198Ile)
c.621G>T (p.Met207Ile)
c.1476G>T (p.Met492Ile)
c.1290G>T (p.Met430Ile)
c.1209G>T (p.Met403Ile)
c.915G>T (p.Met305Ile)
c.1296G>T (p.Met432Ile)
2g.48688246C>GCA346746329GTF2A1L,LHCGR,STON1-GTF2A1Lc.1551G>C (p.Met517Ile)
c.948-107G>C (n.948-107G>C)
c.3441+16566C>G (n.3441+16566C>G)
c.*295G>C (n.*295G>C)
c.1470G>C (p.Met490Ile)
c.276+16566C>G (n.276+16566C>G)
c.*220+5978G>C (n.*220+5978G>C)
c.594G>C (p.Met198Ile)
c.621G>C (p.Met207Ile)
c.1476G>C (p.Met492Ile)
c.1290G>C (p.Met430Ile)
c.1209G>C (p.Met403Ile)
c.915G>C (p.Met305Ile)
c.1296G>C (p.Met432Ile)
2g.48688246C>TCA346746336GTF2A1L,LHCGR,STON1-GTF2A1Lc.1551G>A (p.Met517Ile)
c.948-107G>A (n.948-107G>A)
c.3441+16566C>T (n.3441+16566C>T)
c.*295G>A (n.*295G>A)
c.1470G>A (p.Met490Ile)
c.276+16566C>T (n.276+16566C>T)
c.*220+5978G>A (n.*220+5978G>A)
c.594G>A (p.Met198Ile)
c.621G>A (p.Met207Ile)
c.1476G>A (p.Met492Ile)
c.1290G>A (p.Met430Ile)
c.1209G>A (p.Met403Ile)
c.915G>A (p.Met305Ile)
c.1296G>A (p.Met432Ile)
 gnomAD v4
2g.48688247A=CA1248601049GTF2A1L,LHCGR,STON1-GTF2A1Lc.1550T= (p.Met517=)
c.948-108T= (n.948-108T=)
c.3441+16567A= (n.3441+16567A=)
c.*294T= (n.*294T=)
c.1469T= (p.Met490=)
c.276+16567A= (n.276+16567A=)
c.*220+5977T= (n.*220+5977T=)
c.593T= (p.Met198=)
c.620T= (p.Met207=)
c.1475T= (p.Met492=)
c.1289T= (p.Met430=)
c.1208T= (p.Met403=)
c.914T= (p.Met305=)
c.1295T= (p.Met432=)
2g.48688247A>CCA346746339GTF2A1L,LHCGR,STON1-GTF2A1Lc.1550T>G (p.Met517Arg)
c.948-108T>G (n.948-108T>G)
c.3441+16567A>C (n.3441+16567A>C)
c.*294T>G (n.*294T>G)
c.1469T>G (p.Met490Arg)
c.276+16567A>C (n.276+16567A>C)
c.*220+5977T>G (n.*220+5977T>G)
c.593T>G (p.Met198Arg)
c.620T>G (p.Met207Arg)
c.1475T>G (p.Met492Arg)
c.1289T>G (p.Met430Arg)
c.1208T>G (p.Met403Arg)
c.914T>G (p.Met305Arg)
c.1295T>G (p.Met432Arg)
2g.48688247A>GCA346746342GTF2A1L,LHCGR,STON1-GTF2A1Lc.1550T>C (p.Met517Thr)
c.948-108T>C (n.948-108T>C)
c.3441+16567A>G (n.3441+16567A>G)
c.*294T>C (n.*294T>C)
c.1469T>C (p.Met490Thr)
c.276+16567A>G (n.276+16567A>G)
c.*220+5977T>C (n.*220+5977T>C)
c.593T>C (p.Met198Thr)
c.620T>C (p.Met207Thr)
c.1475T>C (p.Met492Thr)
c.1289T>C (p.Met430Thr)
c.1208T>C (p.Met403Thr)
c.914T>C (p.Met305Thr)
c.1295T>C (p.Met432Thr)
 dbSNP
2g.48688247A>TCA346746343GTF2A1L,LHCGR,STON1-GTF2A1Lc.1550T>A (p.Met517Lys)
c.948-108T>A (n.948-108T>A)
c.3441+16567A>T (n.3441+16567A>T)
c.*294T>A (n.*294T>A)
c.1469T>A (p.Met490Lys)
c.276+16567A>T (n.276+16567A>T)
c.*220+5977T>A (n.*220+5977T>A)
c.593T>A (p.Met198Lys)
c.620T>A (p.Met207Lys)
c.1475T>A (p.Met492Lys)
c.1289T>A (p.Met430Lys)
c.1208T>A (p.Met403Lys)
c.914T>A (p.Met305Lys)
c.1295T>A (p.Met432Lys)
2g.48688248T>ACA346746349GTF2A1L,LHCGR,STON1-GTF2A1Lc.1549A>T (p.Met517Leu)
c.948-109A>T (n.948-109A>T)
c.3441+16568T>A (n.3441+16568T>A)
c.*293A>T (n.*293A>T)
c.1468A>T (p.Met490Leu)
c.276+16568T>A (n.276+16568T>A)
c.*220+5976A>T (n.*220+5976A>T)
c.592A>T (p.Met198Leu)
c.619A>T (p.Met207Leu)
c.1474A>T (p.Met492Leu)
c.1288A>T (p.Met430Leu)
c.1207A>T (p.Met403Leu)
c.913A>T (p.Met305Leu)
c.1294A>T (p.Met432Leu)
2g.48688248T>CCA346746352GTF2A1L,LHCGR,STON1-GTF2A1Lc.1549A>G (p.Met517Val)
c.948-109A>G (n.948-109A>G)
c.3441+16568T>C (n.3441+16568T>C)
c.*293A>G (n.*293A>G)
c.1468A>G (p.Met490Val)
c.276+16568T>C (n.276+16568T>C)
c.*220+5976A>G (n.*220+5976A>G)
c.592A>G (p.Met198Val)
c.619A>G (p.Met207Val)
c.1474A>G (p.Met492Val)
c.1288A>G (p.Met430Val)
c.1207A>G (p.Met403Val)
c.913A>G (p.Met305Val)
c.1294A>G (p.Met432Val)
 gnomAD v4
2g.48688248T>GCA346746347GTF2A1L,LHCGR,STON1-GTF2A1Lc.1549A>C (p.Met517Leu)
c.948-109A>C (n.948-109A>C)
c.3441+16568T>G (n.3441+16568T>G)
c.*293A>C (n.*293A>C)
c.1468A>C (p.Met490Leu)
c.276+16568T>G (n.276+16568T>G)
c.*220+5976A>C (n.*220+5976A>C)
c.592A>C (p.Met198Leu)
c.619A>C (p.Met207Leu)
c.1474A>C (p.Met492Leu)
c.1288A>C (p.Met430Leu)
c.1207A>C (p.Met403Leu)
c.913A>C (p.Met305Leu)
c.1294A>C (p.Met432Leu)
2g.48688249G>ACA426125452GTF2A1L,LHCGR,STON1-GTF2A1Lc.1548C>T (p.Pro516=)
c.948-110C>T (n.948-110C>T)
c.3441+16569G>A (n.3441+16569G>A)
c.*292C>T (n.*292C>T)
c.1467C>T (p.Pro489=)
c.276+16569G>A (n.276+16569G>A)
c.*220+5975C>T (n.*220+5975C>T)
c.591C>T (p.Pro197=)
c.618C>T (p.Pro206=)
c.1473C>T (p.Pro491=)
c.1287C>T (p.Pro429=)
c.1206C>T (p.Pro402=)
c.912C>T (p.Pro304=)
c.1293C>T (p.Pro431=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48688249G>CCA426125461GTF2A1L,LHCGR,STON1-GTF2A1Lc.1548C>G (p.Pro516=)
c.948-110C>G (n.948-110C>G)
c.3441+16569G>C (n.3441+16569G>C)
c.*292C>G (n.*292C>G)
c.1467C>G (p.Pro489=)
c.276+16569G>C (n.276+16569G>C)
c.*220+5975C>G (n.*220+5975C>G)
c.591C>G (p.Pro197=)
c.618C>G (p.Pro206=)
c.1473C>G (p.Pro491=)
c.1287C>G (p.Pro429=)
c.1206C>G (p.Pro402=)
c.912C>G (p.Pro304=)
c.1293C>G (p.Pro431=)
2g.48688249G=CA1248601050GTF2A1L,LHCGR,STON1-GTF2A1Lc.1548C= (p.Pro516=)
c.948-110C= (n.948-110C=)
c.3441+16569G= (n.3441+16569G=)
c.*292C= (n.*292C=)
c.1467C= (p.Pro489=)
c.276+16569G= (n.276+16569G=)
c.*220+5975C= (n.*220+5975C=)
c.591C= (p.Pro197=)
c.618C= (p.Pro206=)
c.1473C= (p.Pro491=)
c.1287C= (p.Pro429=)
c.1206C= (p.Pro402=)
c.912C= (p.Pro304=)
c.1293C= (p.Pro431=)
2g.48688249G>TCA426125454GTF2A1L,LHCGR,STON1-GTF2A1Lc.1548C>A (p.Pro516=)
c.948-110C>A (n.948-110C>A)
c.3441+16569G>T (n.3441+16569G>T)
c.*292C>A (n.*292C>A)
c.1467C>A (p.Pro489=)
c.276+16569G>T (n.276+16569G>T)
c.*220+5975C>A (n.*220+5975C>A)
c.591C>A (p.Pro197=)
c.618C>A (p.Pro206=)
c.1473C>A (p.Pro491=)
c.1287C>A (p.Pro429=)
c.1206C>A (p.Pro402=)
c.912C>A (p.Pro304=)
c.1293C>A (p.Pro431=)
2g.48688250G>ACA346746356GTF2A1L,LHCGR,STON1-GTF2A1Lc.1547C>T (p.Pro516Leu)
c.948-111C>T (n.948-111C>T)
c.3441+16570G>A (n.3441+16570G>A)
c.*291C>T (n.*291C>T)
c.1466C>T (p.Pro489Leu)
c.276+16570G>A (n.276+16570G>A)
c.*220+5974C>T (n.*220+5974C>T)
c.590C>T (p.Pro197Leu)
c.617C>T (p.Pro206Leu)
c.1472C>T (p.Pro491Leu)
c.1286C>T (p.Pro429Leu)
c.1205C>T (p.Pro402Leu)
c.911C>T (p.Pro304Leu)
c.1292C>T (p.Pro431Leu)
 gnomAD v4
2g.48688250G>CCA346746358GTF2A1L,LHCGR,STON1-GTF2A1Lc.1547C>G (p.Pro516Arg)
c.948-111C>G (n.948-111C>G)
c.3441+16570G>C (n.3441+16570G>C)
c.*291C>G (n.*291C>G)
c.1466C>G (p.Pro489Arg)
c.276+16570G>C (n.276+16570G>C)
c.*220+5974C>G (n.*220+5974C>G)
c.590C>G (p.Pro197Arg)
c.617C>G (p.Pro206Arg)
c.1472C>G (p.Pro491Arg)
c.1286C>G (p.Pro429Arg)
c.1205C>G (p.Pro402Arg)
c.911C>G (p.Pro304Arg)
c.1292C>G (p.Pro431Arg)
 gnomAD v4
2g.48688250G>TCA346746360GTF2A1L,LHCGR,STON1-GTF2A1Lc.1547C>A (p.Pro516His)
c.948-111C>A (n.948-111C>A)
c.3441+16570G>T (n.3441+16570G>T)
c.*291C>A (n.*291C>A)
c.1466C>A (p.Pro489His)
c.276+16570G>T (n.276+16570G>T)
c.*220+5974C>A (n.*220+5974C>A)
c.590C>A (p.Pro197His)
c.617C>A (p.Pro206His)
c.1472C>A (p.Pro491His)
c.1286C>A (p.Pro429His)
c.1205C>A (p.Pro402His)
c.911C>A (p.Pro304His)
c.1292C>A (p.Pro431His)
2g.48688251G>ACA346746362GTF2A1L,LHCGR,STON1-GTF2A1Lc.1546C>T (p.Pro516Ser)
c.948-112C>T (n.948-112C>T)
c.3441+16571G>A (n.3441+16571G>A)
c.*290C>T (n.*290C>T)
c.1465C>T (p.Pro489Ser)
c.276+16571G>A (n.276+16571G>A)
c.*220+5973C>T (n.*220+5973C>T)
c.589C>T (p.Pro197Ser)
c.616C>T (p.Pro206Ser)
c.1471C>T (p.Pro491Ser)
c.1285C>T (p.Pro429Ser)
c.1204C>T (p.Pro402Ser)
c.910C>T (p.Pro304Ser)
c.1291C>T (p.Pro431Ser)
 gnomAD v4
2g.48688251G>CCA346746364GTF2A1L,LHCGR,STON1-GTF2A1Lc.1546C>G (p.Pro516Ala)
c.948-112C>G (n.948-112C>G)
c.3441+16571G>C (n.3441+16571G>C)
c.*290C>G (n.*290C>G)
c.1465C>G (p.Pro489Ala)
c.276+16571G>C (n.276+16571G>C)
c.*220+5973C>G (n.*220+5973C>G)
c.589C>G (p.Pro197Ala)
c.616C>G (p.Pro206Ala)
c.1471C>G (p.Pro491Ala)
c.1285C>G (p.Pro429Ala)
c.1204C>G (p.Pro402Ala)
c.910C>G (p.Pro304Ala)
c.1291C>G (p.Pro431Ala)
2g.48688251G>TCA346746367GTF2A1L,LHCGR,STON1-GTF2A1Lc.1546C>A (p.Pro516Thr)
c.948-112C>A (n.948-112C>A)
c.3441+16571G>T (n.3441+16571G>T)
c.*290C>A (n.*290C>A)
c.1465C>A (p.Pro489Thr)
c.276+16571G>T (n.276+16571G>T)
c.*220+5973C>A (n.*220+5973C>A)
c.589C>A (p.Pro197Thr)
c.616C>A (p.Pro206Thr)
c.1471C>A (p.Pro491Thr)
c.1285C>A (p.Pro429Thr)
c.1204C>A (p.Pro402Thr)
c.910C>A (p.Pro304Thr)
c.1291C>A (p.Pro431Thr)
2g.48688252G>ACA426125467GTF2A1L,LHCGR,STON1-GTF2A1Lc.1545C>T (p.Phe515=)
c.948-113C>T (n.948-113C>T)
c.3441+16572G>A (n.3441+16572G>A)
c.*289C>T (n.*289C>T)
c.1464C>T (p.Phe488=)
c.276+16572G>A (n.276+16572G>A)
c.*220+5972C>T (n.*220+5972C>T)
c.588C>T (p.Phe196=)
c.615C>T (p.Phe205=)
c.1470C>T (p.Phe490=)
c.1284C>T (p.Phe428=)
c.1203C>T (p.Phe401=)
c.909C>T (p.Phe303=)
c.1290C>T (p.Phe430=)
2g.48688252G>CCA346746371GTF2A1L,LHCGR,STON1-GTF2A1Lc.1545C>G (p.Phe515Leu)
c.948-113C>G (n.948-113C>G)
c.3441+16572G>C (n.3441+16572G>C)
c.*289C>G (n.*289C>G)
c.1464C>G (p.Phe488Leu)
c.276+16572G>C (n.276+16572G>C)
c.*220+5972C>G (n.*220+5972C>G)
c.588C>G (p.Phe196Leu)
c.615C>G (p.Phe205Leu)
c.1470C>G (p.Phe490Leu)
c.1284C>G (p.Phe428Leu)
c.1203C>G (p.Phe401Leu)
c.909C>G (p.Phe303Leu)
c.1290C>G (p.Phe430Leu)
2g.48688252G>TCA346746372GTF2A1L,LHCGR,STON1-GTF2A1Lc.1545C>A (p.Phe515Leu)
c.948-113C>A (n.948-113C>A)
c.3441+16572G>T (n.3441+16572G>T)
c.*289C>A (n.*289C>A)
c.1464C>A (p.Phe488Leu)
c.276+16572G>T (n.276+16572G>T)
c.*220+5972C>A (n.*220+5972C>A)
c.588C>A (p.Phe196Leu)
c.615C>A (p.Phe205Leu)
c.1470C>A (p.Phe490Leu)
c.1284C>A (p.Phe428Leu)
c.1203C>A (p.Phe401Leu)
c.909C>A (p.Phe303Leu)
c.1290C>A (p.Phe430Leu)
2g.48688253A>CCA346746375GTF2A1L,LHCGR,STON1-GTF2A1Lc.1544T>G (p.Phe515Cys)
c.948-114T>G (n.948-114T>G)
c.3441+16573A>C (n.3441+16573A>C)
c.*288T>G (n.*288T>G)
c.1463T>G (p.Phe488Cys)
c.276+16573A>C (n.276+16573A>C)
c.*220+5971T>G (n.*220+5971T>G)
c.587T>G (p.Phe196Cys)
c.614T>G (p.Phe205Cys)
c.1469T>G (p.Phe490Cys)
c.1283T>G (p.Phe428Cys)
c.1202T>G (p.Phe401Cys)
c.908T>G (p.Phe303Cys)
c.1289T>G (p.Phe430Cys)
2g.48688253A>GCA346746376GTF2A1L,LHCGR,STON1-GTF2A1Lc.1544T>C (p.Phe515Ser)
c.948-114T>C (n.948-114T>C)
c.3441+16573A>G (n.3441+16573A>G)
c.*288T>C (n.*288T>C)
c.1463T>C (p.Phe488Ser)
c.276+16573A>G (n.276+16573A>G)
c.*220+5971T>C (n.*220+5971T>C)
c.587T>C (p.Phe196Ser)
c.614T>C (p.Phe205Ser)
c.1469T>C (p.Phe490Ser)
c.1283T>C (p.Phe428Ser)
c.1202T>C (p.Phe401Ser)
c.908T>C (p.Phe303Ser)
c.1289T>C (p.Phe430Ser)
 gnomAD v4
2g.48688253A>TCA346746377GTF2A1L,LHCGR,STON1-GTF2A1Lc.1544T>A (p.Phe515Tyr)
c.948-114T>A (n.948-114T>A)
c.3441+16573A>T (n.3441+16573A>T)
c.*288T>A (n.*288T>A)
c.1463T>A (p.Phe488Tyr)
c.276+16573A>T (n.276+16573A>T)
c.*220+5971T>A (n.*220+5971T>A)
c.587T>A (p.Phe196Tyr)
c.614T>A (p.Phe205Tyr)
c.1469T>A (p.Phe490Tyr)
c.1283T>A (p.Phe428Tyr)
c.1202T>A (p.Phe401Tyr)
c.908T>A (p.Phe303Tyr)
c.1289T>A (p.Phe430Tyr)
 gnomAD v4
2g.48688254A>CCA346746379GTF2A1L,LHCGR,STON1-GTF2A1Lc.1543T>G (p.Phe515Val)
c.948-115T>G (n.948-115T>G)
c.3441+16574A>C (n.3441+16574A>C)
c.*287T>G (n.*287T>G)
c.1462T>G (p.Phe488Val)
c.276+16574A>C (n.276+16574A>C)
c.*220+5970T>G (n.*220+5970T>G)
c.586T>G (p.Phe196Val)
c.613T>G (p.Phe205Val)
c.1468T>G (p.Phe490Val)
c.1282T>G (p.Phe428Val)
c.1201T>G (p.Phe401Val)
c.907T>G (p.Phe303Val)
c.1288T>G (p.Phe430Val)
2g.48688254A>GCA346746380GTF2A1L,LHCGR,STON1-GTF2A1Lc.1543T>C (p.Phe515Leu)
c.948-115T>C (n.948-115T>C)
c.3441+16574A>G (n.3441+16574A>G)
c.*287T>C (n.*287T>C)
c.1462T>C (p.Phe488Leu)
c.276+16574A>G (n.276+16574A>G)
c.*220+5970T>C (n.*220+5970T>C)
c.586T>C (p.Phe196Leu)
c.613T>C (p.Phe205Leu)
c.1468T>C (p.Phe490Leu)
c.1282T>C (p.Phe428Leu)
c.1201T>C (p.Phe401Leu)
c.907T>C (p.Phe303Leu)
c.1288T>C (p.Phe430Leu)
2g.48688254A>TCA346746388GTF2A1L,LHCGR,STON1-GTF2A1Lc.1543T>A (p.Phe515Ile)
c.948-115T>A (n.948-115T>A)
c.3441+16574A>T (n.3441+16574A>T)
c.*287T>A (n.*287T>A)
c.1462T>A (p.Phe488Ile)
c.276+16574A>T (n.276+16574A>T)
c.*220+5970T>A (n.*220+5970T>A)
c.586T>A (p.Phe196Ile)
c.613T>A (p.Phe205Ile)
c.1468T>A (p.Phe490Ile)
c.1282T>A (p.Phe428Ile)
c.1201T>A (p.Phe401Ile)
c.907T>A (p.Phe303Ile)
c.1288T>A (p.Phe430Ile)
2g.48688255G>ACA426125478GTF2A1L,LHCGR,STON1-GTF2A1Lc.1542C>T (p.Cys514=)
c.948-116C>T (n.948-116C>T)
c.3441+16575G>A (n.3441+16575G>A)
c.*286C>T (n.*286C>T)
c.1461C>T (p.Cys487=)
c.276+16575G>A (n.276+16575G>A)
c.*220+5969C>T (n.*220+5969C>T)
c.585C>T (p.Cys195=)
c.612C>T (p.Cys204=)
c.1467C>T (p.Cys489=)
c.1281C>T (p.Cys427=)
c.1200C>T (p.Cys400=)
c.906C>T (p.Cys302=)
c.1287C>T (p.Cys429=)
 dbSNP COSMIC
2g.48688255G>CCA346746395GTF2A1L,LHCGR,STON1-GTF2A1Lc.1542C>G (p.Cys514Trp)
c.948-116C>G (n.948-116C>G)
c.3441+16575G>C (n.3441+16575G>C)
c.*286C>G (n.*286C>G)
c.1461C>G (p.Cys487Trp)
c.276+16575G>C (n.276+16575G>C)
c.*220+5969C>G (n.*220+5969C>G)
c.585C>G (p.Cys195Trp)
c.612C>G (p.Cys204Trp)
c.1467C>G (p.Cys489Trp)
c.1281C>G (p.Cys427Trp)
c.1200C>G (p.Cys400Trp)
c.906C>G (p.Cys302Trp)
c.1287C>G (p.Cys429Trp)
2g.48688255G=CA1248601051GTF2A1L,LHCGR,STON1-GTF2A1Lc.1542C= (p.Cys514=)
c.948-116C= (n.948-116C=)
c.3441+16575G= (n.3441+16575G=)
c.*286C= (n.*286C=)
c.1461C= (p.Cys487=)
c.276+16575G= (n.276+16575G=)
c.*220+5969C= (n.*220+5969C=)
c.585C= (p.Cys195=)
c.612C= (p.Cys204=)
c.1467C= (p.Cys489=)
c.1281C= (p.Cys427=)
c.1200C= (p.Cys400=)
c.906C= (p.Cys302=)
c.1287C= (p.Cys429=)
2g.48688255G>TCA346746392GTF2A1L,LHCGR,STON1-GTF2A1Lc.1542C>A (p.Cys514Ter)
c.948-116C>A (n.948-116C>A)
c.3441+16575G>T (n.3441+16575G>T)
c.*286C>A (n.*286C>A)
c.1461C>A (p.Cys487Ter)
c.276+16575G>T (n.276+16575G>T)
c.*220+5969C>A (n.*220+5969C>A)
c.585C>A (p.Cys195Ter)
c.612C>A (p.Cys204Ter)
c.1467C>A (p.Cys489Ter)
c.1281C>A (p.Cys427Ter)
c.1200C>A (p.Cys400Ter)
c.906C>A (p.Cys302Ter)
c.1287C>A (p.Cys429Ter)
2g.48688256C>ACA346746402GTF2A1L,LHCGR,STON1-GTF2A1Lc.1541G>T (p.Cys514Phe)
c.948-117G>T (n.948-117G>T)
c.3441+16576C>A (n.3441+16576C>A)
c.*285G>T (n.*285G>T)
c.1460G>T (p.Cys487Phe)
c.276+16576C>A (n.276+16576C>A)
c.*220+5968G>T (n.*220+5968G>T)
c.584G>T (p.Cys195Phe)
c.611G>T (p.Cys204Phe)
c.1466G>T (p.Cys489Phe)
c.1280G>T (p.Cys427Phe)
c.1199G>T (p.Cys400Phe)
c.905G>T (p.Cys302Phe)
c.1286G>T (p.Cys429Phe)
2g.48688256C>GCA346746408GTF2A1L,LHCGR,STON1-GTF2A1Lc.1541G>C (p.Cys514Ser)
c.948-117G>C (n.948-117G>C)
c.3441+16576C>G (n.3441+16576C>G)
c.*285G>C (n.*285G>C)
c.1460G>C (p.Cys487Ser)
c.276+16576C>G (n.276+16576C>G)
c.*220+5968G>C (n.*220+5968G>C)
c.584G>C (p.Cys195Ser)
c.611G>C (p.Cys204Ser)
c.1466G>C (p.Cys489Ser)
c.1280G>C (p.Cys427Ser)
c.1199G>C (p.Cys400Ser)
c.905G>C (p.Cys302Ser)
c.1286G>C (p.Cys429Ser)
 gnomAD v4
2g.48688256C>TCA346746404GTF2A1L,LHCGR,STON1-GTF2A1Lc.1541G>A (p.Cys514Tyr)
c.948-117G>A (n.948-117G>A)
c.3441+16576C>T (n.3441+16576C>T)
c.*285G>A (n.*285G>A)
c.1460G>A (p.Cys487Tyr)
c.276+16576C>T (n.276+16576C>T)
c.*220+5968G>A (n.*220+5968G>A)
c.584G>A (p.Cys195Tyr)
c.611G>A (p.Cys204Tyr)
c.1466G>A (p.Cys489Tyr)
c.1280G>A (p.Cys427Tyr)
c.1199G>A (p.Cys400Tyr)
c.905G>A (p.Cys302Tyr)
c.1286G>A (p.Cys429Tyr)
2g.48688257A>CCA346746412GTF2A1L,LHCGR,STON1-GTF2A1Lc.1540T>G (p.Cys514Gly)
c.948-118T>G (n.948-118T>G)
c.3441+16577A>C (n.3441+16577A>C)
c.*284T>G (n.*284T>G)
c.1459T>G (p.Cys487Gly)
c.276+16577A>C (n.276+16577A>C)
c.*220+5967T>G (n.*220+5967T>G)
c.583T>G (p.Cys195Gly)
c.610T>G (p.Cys204Gly)
c.1465T>G (p.Cys489Gly)
c.1279T>G (p.Cys427Gly)
c.1198T>G (p.Cys400Gly)
c.904T>G (p.Cys302Gly)
c.1285T>G (p.Cys429Gly)
 gnomAD v4
2g.48688257A>GCA346746416GTF2A1L,LHCGR,STON1-GTF2A1Lc.1540T>C (p.Cys514Arg)
c.948-118T>C (n.948-118T>C)
c.3441+16577A>G (n.3441+16577A>G)
c.*284T>C (n.*284T>C)
c.1459T>C (p.Cys487Arg)
c.276+16577A>G (n.276+16577A>G)
c.*220+5967T>C (n.*220+5967T>C)
c.583T>C (p.Cys195Arg)
c.610T>C (p.Cys204Arg)
c.1465T>C (p.Cys489Arg)
c.1279T>C (p.Cys427Arg)
c.1198T>C (p.Cys400Arg)
c.904T>C (p.Cys302Arg)
c.1285T>C (p.Cys429Arg)
2g.48688257A>TCA346746418GTF2A1L,LHCGR,STON1-GTF2A1Lc.1540T>A (p.Cys514Ser)
c.948-118T>A (n.948-118T>A)
c.3441+16577A>T (n.3441+16577A>T)
c.*284T>A (n.*284T>A)
c.1459T>A (p.Cys487Ser)
c.276+16577A>T (n.276+16577A>T)
c.*220+5967T>A (n.*220+5967T>A)
c.583T>A (p.Cys195Ser)
c.610T>A (p.Cys204Ser)
c.1465T>A (p.Cys489Ser)
c.1279T>A (p.Cys427Ser)
c.1198T>A (p.Cys400Ser)
c.904T>A (p.Cys302Ser)
c.1285T>A (p.Cys429Ser)
2g.48688258A>CCA346746421GTF2A1L,LHCGR,STON1-GTF2A1Lc.1539T>G (p.Ile513Met)
c.948-119T>G (n.948-119T>G)
c.3441+16578A>C (n.3441+16578A>C)
c.*283T>G (n.*283T>G)
c.1458T>G (p.Ile486Met)
c.276+16578A>C (n.276+16578A>C)
c.*220+5966T>G (n.*220+5966T>G)
c.582T>G (p.Ile194Met)
c.609T>G (p.Ile203Met)
c.1464T>G (p.Ile488Met)
c.1278T>G (p.Ile426Met)
c.1197T>G (p.Ile399Met)
c.903T>G (p.Ile301Met)
c.1284T>G (p.Ile428Met)
2g.48688258A>GCA426125497GTF2A1L,LHCGR,STON1-GTF2A1Lc.1539T>C (p.Ile513=)
c.948-119T>C (n.948-119T>C)
c.3441+16578A>G (n.3441+16578A>G)
c.*283T>C (n.*283T>C)
c.1458T>C (p.Ile486=)
c.276+16578A>G (n.276+16578A>G)
c.*220+5966T>C (n.*220+5966T>C)
c.582T>C (p.Ile194=)
c.609T>C (p.Ile203=)
c.1464T>C (p.Ile488=)
c.1278T>C (p.Ile426=)
c.1197T>C (p.Ile399=)
c.903T>C (p.Ile301=)
c.1284T>C (p.Ile428=)
2g.48688258A>TCA426125492GTF2A1L,LHCGR,STON1-GTF2A1Lc.1539T>A (p.Ile513=)
c.948-119T>A (n.948-119T>A)
c.3441+16578A>T (n.3441+16578A>T)
c.*283T>A (n.*283T>A)
c.1458T>A (p.Ile486=)
c.276+16578A>T (n.276+16578A>T)
c.*220+5966T>A (n.*220+5966T>A)
c.582T>A (p.Ile194=)
c.609T>A (p.Ile203=)
c.1464T>A (p.Ile488=)
c.1278T>A (p.Ile426=)
c.1197T>A (p.Ile399=)
c.903T>A (p.Ile301=)
c.1284T>A (p.Ile428=)
 gnomAD v4
2g.48688258_48688259insTCA2749836836GTF2A1L,LHCGR,STON1-GTF2A1Lc.1538_1539insA (p.Cys514LeufsTer?)
c.948-120_948-119insA (n.948-120_948-119insA)
c.3441+16578_3441+16579insT (n.3441+16578_3441+16579insT)
c.*282_*283insA (n.*282_*283insA)
c.1457_1458insA (p.Cys487LeufsTer?)
c.276+16578_276+16579insT (n.276+16578_276+16579insT)
c.*220+5965_*220+5966insA (n.*220+5965_*220+5966insA)
c.581_582insA (p.Cys195LeufsTer?)
c.608_609insA (p.Cys204LeufsTer?)
c.1463_1464insA (p.Cys489LeufsTer?)
c.1277_1278insA (p.Cys427LeufsTer?)
c.1196_1197insA (p.Cys400LeufsTer?)
c.902_903insA (p.Cys302LeufsTer?)
c.1283_1284insA (p.Cys429LeufsTer?)
2g.48688259A>CCA346746423GTF2A1L,LHCGR,STON1-GTF2A1Lc.1538T>G (p.Ile513Ser)
c.948-120T>G (n.948-120T>G)
c.3441+16579A>C (n.3441+16579A>C)
c.*282T>G (n.*282T>G)
c.1457T>G (p.Ile486Ser)
c.276+16579A>C (n.276+16579A>C)
c.*220+5965T>G (n.*220+5965T>G)
c.581T>G (p.Ile194Ser)
c.608T>G (p.Ile203Ser)
c.1463T>G (p.Ile488Ser)
c.1277T>G (p.Ile426Ser)
c.1196T>G (p.Ile399Ser)
c.902T>G (p.Ile301Ser)
c.1283T>G (p.Ile428Ser)
2g.48688259A>GCA346746424GTF2A1L,LHCGR,STON1-GTF2A1Lc.1538T>C (p.Ile513Thr)
c.948-120T>C (n.948-120T>C)
c.3441+16579A>G (n.3441+16579A>G)
c.*282T>C (n.*282T>C)
c.1457T>C (p.Ile486Thr)
c.276+16579A>G (n.276+16579A>G)
c.*220+5965T>C (n.*220+5965T>C)
c.581T>C (p.Ile194Thr)
c.608T>C (p.Ile203Thr)
c.1463T>C (p.Ile488Thr)
c.1277T>C (p.Ile426Thr)
c.1196T>C (p.Ile399Thr)
c.902T>C (p.Ile301Thr)
c.1283T>C (p.Ile428Thr)
2g.48688259A>TCA346746425GTF2A1L,LHCGR,STON1-GTF2A1Lc.1538T>A (p.Ile513Asn)
c.948-120T>A (n.948-120T>A)
c.3441+16579A>T (n.3441+16579A>T)
c.*282T>A (n.*282T>A)
c.1457T>A (p.Ile486Asn)
c.276+16579A>T (n.276+16579A>T)
c.*220+5965T>A (n.*220+5965T>A)
c.581T>A (p.Ile194Asn)
c.608T>A (p.Ile203Asn)
c.1463T>A (p.Ile488Asn)
c.1277T>A (p.Ile426Asn)
c.1196T>A (p.Ile399Asn)
c.902T>A (p.Ile301Asn)
c.1283T>A (p.Ile428Asn)
 gnomAD v4
2g.48688260T>ACA346746426GTF2A1L,LHCGR,STON1-GTF2A1Lc.1537A>T (p.Ile513Phe)
c.948-121A>T (n.948-121A>T)
c.3441+16580T>A (n.3441+16580T>A)
c.*281A>T (n.*281A>T)
c.1456A>T (p.Ile486Phe)
c.276+16580T>A (n.276+16580T>A)
c.*220+5964A>T (n.*220+5964A>T)
c.580A>T (p.Ile194Phe)
c.607A>T (p.Ile203Phe)
c.1462A>T (p.Ile488Phe)
c.1276A>T (p.Ile426Phe)
c.1195A>T (p.Ile399Phe)
c.901A>T (p.Ile301Phe)
c.1282A>T (p.Ile428Phe)
2g.48688260T>CCA346746427GTF2A1L,LHCGR,STON1-GTF2A1Lc.1537A>G (p.Ile513Val)
c.948-121A>G (n.948-121A>G)
c.3441+16580T>C (n.3441+16580T>C)
c.*281A>G (n.*281A>G)
c.1456A>G (p.Ile486Val)
c.276+16580T>C (n.276+16580T>C)
c.*220+5964A>G (n.*220+5964A>G)
c.580A>G (p.Ile194Val)
c.607A>G (p.Ile203Val)
c.1462A>G (p.Ile488Val)
c.1276A>G (p.Ile426Val)
c.1195A>G (p.Ile399Val)
c.901A>G (p.Ile301Val)
c.1282A>G (p.Ile428Val)
2g.48688260T>GCA346746430GTF2A1L,LHCGR,STON1-GTF2A1Lc.1537A>C (p.Ile513Leu)
c.948-121A>C (n.948-121A>C)
c.3441+16580T>G (n.3441+16580T>G)
c.*281A>C (n.*281A>C)
c.1456A>C (p.Ile486Leu)
c.276+16580T>G (n.276+16580T>G)
c.*220+5964A>C (n.*220+5964A>C)
c.580A>C (p.Ile194Leu)
c.607A>C (p.Ile203Leu)
c.1462A>C (p.Ile488Leu)
c.1276A>C (p.Ile426Leu)
c.1195A>C (p.Ile399Leu)
c.901A>C (p.Ile301Leu)
c.1282A>C (p.Ile428Leu)
2g.48688261A=CA1248601052GTF2A1L,LHCGR,STON1-GTF2A1Lc.1536T= (p.Ser512=)
c.948-122T= (n.948-122T=)
c.3441+16581A= (n.3441+16581A=)
c.*280T= (n.*280T=)
c.1455T= (p.Ser485=)
c.276+16581A= (n.276+16581A=)
c.*220+5963T= (n.*220+5963T=)
c.579T= (p.Ser193=)
c.606T= (p.Ser202=)
c.1461T= (p.Ser487=)
c.1275T= (p.Ser425=)
c.1194T= (p.Ser398=)
c.900T= (p.Ser300=)
c.1281T= (p.Ser427=)
2g.48688261A>CCA346746432GTF2A1L,LHCGR,STON1-GTF2A1Lc.1536T>G (p.Ser512Arg)
c.948-122T>G (n.948-122T>G)
c.3441+16581A>C (n.3441+16581A>C)
c.*280T>G (n.*280T>G)
c.1455T>G (p.Ser485Arg)
c.276+16581A>C (n.276+16581A>C)
c.*220+5963T>G (n.*220+5963T>G)
c.579T>G (p.Ser193Arg)
c.606T>G (p.Ser202Arg)
c.1461T>G (p.Ser487Arg)
c.1275T>G (p.Ser425Arg)
c.1194T>G (p.Ser398Arg)
c.900T>G (p.Ser300Arg)
c.1281T>G (p.Ser427Arg)
2g.48688261A>GCA1653019GTF2A1L,LHCGR,STON1-GTF2A1Lc.1536T>C (p.Ser512=)
c.948-122T>C (n.948-122T>C)
c.3441+16581A>G (n.3441+16581A>G)
c.*280T>C (n.*280T>C)
c.1455T>C (p.Ser485=)
c.276+16581A>G (n.276+16581A>G)
c.*220+5963T>C (n.*220+5963T>C)
c.579T>C (p.Ser193=)
c.606T>C (p.Ser202=)
c.1461T>C (p.Ser487=)
c.1275T>C (p.Ser425=)
c.1194T>C (p.Ser398=)
c.900T>C (p.Ser300=)
c.1281T>C (p.Ser427=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688261A>TCA346746435GTF2A1L,LHCGR,STON1-GTF2A1Lc.1536T>A (p.Ser512Arg)
c.948-122T>A (n.948-122T>A)
c.3441+16581A>T (n.3441+16581A>T)
c.*280T>A (n.*280T>A)
c.1455T>A (p.Ser485Arg)
c.276+16581A>T (n.276+16581A>T)
c.*220+5963T>A (n.*220+5963T>A)
c.579T>A (p.Ser193Arg)
c.606T>A (p.Ser202Arg)
c.1461T>A (p.Ser487Arg)
c.1275T>A (p.Ser425Arg)
c.1194T>A (p.Ser398Arg)
c.900T>A (p.Ser300Arg)
c.1281T>A (p.Ser427Arg)
2g.48688262C>ACA346746441GTF2A1L,LHCGR,STON1-GTF2A1Lc.1535G>T (p.Ser512Ile)
c.948-123G>T (n.948-123G>T)
c.3441+16582C>A (n.3441+16582C>A)
c.*279G>T (n.*279G>T)
c.1454G>T (p.Ser485Ile)
c.276+16582C>A (n.276+16582C>A)
c.*220+5962G>T (n.*220+5962G>T)
c.578G>T (p.Ser193Ile)
c.605G>T (p.Ser202Ile)
c.1460G>T (p.Ser487Ile)
c.1274G>T (p.Ser425Ile)
c.1193G>T (p.Ser398Ile)
c.899G>T (p.Ser300Ile)
c.1280G>T (p.Ser427Ile)
2g.48688262C>GCA346746437GTF2A1L,LHCGR,STON1-GTF2A1Lc.1535G>C (p.Ser512Thr)
c.948-123G>C (n.948-123G>C)
c.3441+16582C>G (n.3441+16582C>G)
c.*279G>C (n.*279G>C)
c.1454G>C (p.Ser485Thr)
c.276+16582C>G (n.276+16582C>G)
c.*220+5962G>C (n.*220+5962G>C)
c.578G>C (p.Ser193Thr)
c.605G>C (p.Ser202Thr)
c.1460G>C (p.Ser487Thr)
c.1274G>C (p.Ser425Thr)
c.1193G>C (p.Ser398Thr)
c.899G>C (p.Ser300Thr)
c.1280G>C (p.Ser427Thr)
2g.48688262C>TCA346746439GTF2A1L,LHCGR,STON1-GTF2A1Lc.1535G>A (p.Ser512Asn)
c.948-123G>A (n.948-123G>A)
c.3441+16582C>T (n.3441+16582C>T)
c.*279G>A (n.*279G>A)
c.1454G>A (p.Ser485Asn)
c.276+16582C>T (n.276+16582C>T)
c.*220+5962G>A (n.*220+5962G>A)
c.578G>A (p.Ser193Asn)
c.605G>A (p.Ser202Asn)
c.1460G>A (p.Ser487Asn)
c.1274G>A (p.Ser425Asn)
c.1193G>A (p.Ser398Asn)
c.899G>A (p.Ser300Asn)
c.1280G>A (p.Ser427Asn)
2g.48688263T>ACA346746445GTF2A1L,LHCGR,STON1-GTF2A1Lc.1534A>T (p.Ser512Cys)
c.948-124A>T (n.948-124A>T)
c.3441+16583T>A (n.3441+16583T>A)
c.*278A>T (n.*278A>T)
c.1453A>T (p.Ser485Cys)
c.276+16583T>A (n.276+16583T>A)
c.*220+5961A>T (n.*220+5961A>T)
c.577A>T (p.Ser193Cys)
c.604A>T (p.Ser202Cys)
c.1459A>T (p.Ser487Cys)
c.1273A>T (p.Ser425Cys)
c.1192A>T (p.Ser398Cys)
c.898A>T (p.Ser300Cys)
c.1279A>T (p.Ser427Cys)
 COSMIC
2g.48688263T>CCA346746446GTF2A1L,LHCGR,STON1-GTF2A1Lc.1534A>G (p.Ser512Gly)
c.948-124A>G (n.948-124A>G)
c.3441+16583T>C (n.3441+16583T>C)
c.*278A>G (n.*278A>G)
c.1453A>G (p.Ser485Gly)
c.276+16583T>C (n.276+16583T>C)
c.*220+5961A>G (n.*220+5961A>G)
c.577A>G (p.Ser193Gly)
c.604A>G (p.Ser202Gly)
c.1459A>G (p.Ser487Gly)
c.1273A>G (p.Ser425Gly)
c.1192A>G (p.Ser398Gly)
c.898A>G (p.Ser300Gly)
c.1279A>G (p.Ser427Gly)
2g.48688263T>GCA346746450GTF2A1L,LHCGR,STON1-GTF2A1Lc.1534A>C (p.Ser512Arg)
c.948-124A>C (n.948-124A>C)
c.3441+16583T>G (n.3441+16583T>G)
c.*278A>C (n.*278A>C)
c.1453A>C (p.Ser485Arg)
c.276+16583T>G (n.276+16583T>G)
c.*220+5961A>C (n.*220+5961A>C)
c.577A>C (p.Ser193Arg)
c.604A>C (p.Ser202Arg)
c.1459A>C (p.Ser487Arg)
c.1273A>C (p.Ser425Arg)
c.1192A>C (p.Ser398Arg)
c.898A>C (p.Ser300Arg)
c.1279A>C (p.Ser427Arg)
2g.48688264G>ACA426124932GTF2A1L,LHCGR,STON1-GTF2A1Lc.1533C>T (p.Val511=)
c.948-125C>T (n.948-125C>T)
c.3441+16584G>A (n.3441+16584G>A)
c.*277C>T (n.*277C>T)
c.1452C>T (p.Val484=)
c.276+16584G>A (n.276+16584G>A)
c.*220+5960C>T (n.*220+5960C>T)
c.576C>T (p.Val192=)
c.603C>T (p.Val201=)
c.1458C>T (p.Val486=)
c.1272C>T (p.Val424=)
c.1191C>T (p.Val397=)
c.897C>T (p.Val299=)
c.1278C>T (p.Val426=)
2g.48688264G>CCA426124933GTF2A1L,LHCGR,STON1-GTF2A1Lc.1533C>G (p.Val511=)
c.948-125C>G (n.948-125C>G)
c.3441+16584G>C (n.3441+16584G>C)
c.*277C>G (n.*277C>G)
c.1452C>G (p.Val484=)
c.276+16584G>C (n.276+16584G>C)
c.*220+5960C>G (n.*220+5960C>G)
c.576C>G (p.Val192=)
c.603C>G (p.Val201=)
c.1458C>G (p.Val486=)
c.1272C>G (p.Val424=)
c.1191C>G (p.Val397=)
c.897C>G (p.Val299=)
c.1278C>G (p.Val426=)
 dbSNP
2g.48688264G>TCA426124934GTF2A1L,LHCGR,STON1-GTF2A1Lc.1533C>A (p.Val511=)
c.948-125C>A (n.948-125C>A)
c.3441+16584G>T (n.3441+16584G>T)
c.*277C>A (n.*277C>A)
c.1452C>A (p.Val484=)
c.276+16584G>T (n.276+16584G>T)
c.*220+5960C>A (n.*220+5960C>A)
c.576C>A (p.Val192=)
c.603C>A (p.Val201=)
c.1458C>A (p.Val486=)
c.1272C>A (p.Val424=)
c.1191C>A (p.Val397=)
c.897C>A (p.Val299=)
c.1278C>A (p.Val426=)
2g.48688265A=CA1248601053GTF2A1L,LHCGR,STON1-GTF2A1Lc.1532T= (p.Val511=)
c.948-126T= (n.948-126T=)
c.3441+16585A= (n.3441+16585A=)
c.*276T= (n.*276T=)
c.1451T= (p.Val484=)
c.276+16585A= (n.276+16585A=)
c.*220+5959T= (n.*220+5959T=)
c.575T= (p.Val192=)
c.602T= (p.Val201=)
c.1457T= (p.Val486=)
c.1271T= (p.Val424=)
c.1190T= (p.Val397=)
c.896T= (p.Val299=)
c.1277T= (p.Val426=)
2g.48688265A>CCA346746457GTF2A1L,LHCGR,STON1-GTF2A1Lc.1532T>G (p.Val511Gly)
c.948-126T>G (n.948-126T>G)
c.3441+16585A>C (n.3441+16585A>C)
c.*276T>G (n.*276T>G)
c.1451T>G (p.Val484Gly)
c.276+16585A>C (n.276+16585A>C)
c.*220+5959T>G (n.*220+5959T>G)
c.575T>G (p.Val192Gly)
c.602T>G (p.Val201Gly)
c.1457T>G (p.Val486Gly)
c.1271T>G (p.Val424Gly)
c.1190T>G (p.Val397Gly)
c.896T>G (p.Val299Gly)
c.1277T>G (p.Val426Gly)
2g.48688265A>GCA346746459GTF2A1L,LHCGR,STON1-GTF2A1Lc.1532T>C (p.Val511Ala)
c.948-126T>C (n.948-126T>C)
c.3441+16585A>G (n.3441+16585A>G)
c.*276T>C (n.*276T>C)
c.1451T>C (p.Val484Ala)
c.276+16585A>G (n.276+16585A>G)
c.*220+5959T>C (n.*220+5959T>C)
c.575T>C (p.Val192Ala)
c.602T>C (p.Val201Ala)
c.1457T>C (p.Val486Ala)
c.1271T>C (p.Val424Ala)
c.1190T>C (p.Val397Ala)
c.896T>C (p.Val299Ala)
c.1277T>C (p.Val426Ala)
2g.48688265A>TCA346746460GTF2A1L,LHCGR,STON1-GTF2A1Lc.1532T>A (p.Val511Asp)
c.948-126T>A (n.948-126T>A)
c.3441+16585A>T (n.3441+16585A>T)
c.*276T>A (n.*276T>A)
c.1451T>A (p.Val484Asp)
c.276+16585A>T (n.276+16585A>T)
c.*220+5959T>A (n.*220+5959T>A)
c.575T>A (p.Val192Asp)
c.602T>A (p.Val201Asp)
c.1457T>A (p.Val486Asp)
c.1271T>A (p.Val424Asp)
c.1190T>A (p.Val397Asp)
c.896T>A (p.Val299Asp)
c.1277T>A (p.Val426Asp)
 dbSNP gnomAD v2 gnomAD v4
2g.48688266C>ACA346746463GTF2A1L,LHCGR,STON1-GTF2A1Lc.1531G>T (p.Val511Phe)
c.948-127G>T (n.948-127G>T)
c.3441+16586C>A (n.3441+16586C>A)
c.*275G>T (n.*275G>T)
c.1450G>T (p.Val484Phe)
c.276+16586C>A (n.276+16586C>A)
c.*220+5958G>T (n.*220+5958G>T)
c.574G>T (p.Val192Phe)
c.601G>T (p.Val201Phe)
c.1456G>T (p.Val486Phe)
c.1270G>T (p.Val424Phe)
c.1189G>T (p.Val397Phe)
c.895G>T (p.Val299Phe)
c.1276G>T (p.Val426Phe)
2g.48688266C>GCA346746472GTF2A1L,LHCGR,STON1-GTF2A1Lc.1531G>C (p.Val511Leu)
c.948-127G>C (n.948-127G>C)
c.3441+16586C>G (n.3441+16586C>G)
c.*275G>C (n.*275G>C)
c.1450G>C (p.Val484Leu)
c.276+16586C>G (n.276+16586C>G)
c.*220+5958G>C (n.*220+5958G>C)
c.574G>C (p.Val192Leu)
c.601G>C (p.Val201Leu)
c.1456G>C (p.Val486Leu)
c.1270G>C (p.Val424Leu)
c.1189G>C (p.Val397Leu)
c.895G>C (p.Val299Leu)
c.1276G>C (p.Val426Leu)
2g.48688266C>TCA346746474GTF2A1L,LHCGR,STON1-GTF2A1Lc.1531G>A (p.Val511Ile)
c.948-127G>A (n.948-127G>A)
c.3441+16586C>T (n.3441+16586C>T)
c.*275G>A (n.*275G>A)
c.1450G>A (p.Val484Ile)
c.276+16586C>T (n.276+16586C>T)
c.*220+5958G>A (n.*220+5958G>A)
c.574G>A (p.Val192Ile)
c.601G>A (p.Val201Ile)
c.1456G>A (p.Val486Ile)
c.1270G>A (p.Val424Ile)
c.1189G>A (p.Val397Ile)
c.895G>A (p.Val299Ile)
c.1276G>A (p.Val426Ile)
 gnomAD v4
2g.48688267C>ACA346746477GTF2A1L,LHCGR,STON1-GTF2A1Lc.1530G>T (p.Lys510Asn)
c.948-128G>T (n.948-128G>T)
c.3441+16587C>A (n.3441+16587C>A)
c.*274G>T (n.*274G>T)
c.1449G>T (p.Lys483Asn)
c.276+16587C>A (n.276+16587C>A)
c.*220+5957G>T (n.*220+5957G>T)
c.573G>T (p.Lys191Asn)
c.600G>T (p.Lys200Asn)
c.1455G>T (p.Lys485Asn)
c.1269G>T (p.Lys423Asn)
c.1188G>T (p.Lys396Asn)
c.894G>T (p.Lys298Asn)
c.1275G>T (p.Lys425Asn)
 gnomAD v4
2g.48688267C=CA1248601054GTF2A1L,LHCGR,STON1-GTF2A1Lc.1530G= (p.Lys510=)
c.948-128G= (n.948-128G=)
c.3441+16587C= (n.3441+16587C=)
c.*274G= (n.*274G=)
c.1449G= (p.Lys483=)
c.276+16587C= (n.276+16587C=)
c.*220+5957G= (n.*220+5957G=)
c.573G= (p.Lys191=)
c.600G= (p.Lys200=)
c.1455G= (p.Lys485=)
c.1269G= (p.Lys423=)
c.1188G= (p.Lys396=)
c.894G= (p.Lys298=)
c.1275G= (p.Lys425=)
2g.48688267C>GCA346746478GTF2A1L,LHCGR,STON1-GTF2A1Lc.1530G>C (p.Lys510Asn)
c.948-128G>C (n.948-128G>C)
c.3441+16587C>G (n.3441+16587C>G)
c.*274G>C (n.*274G>C)
c.1449G>C (p.Lys483Asn)
c.276+16587C>G (n.276+16587C>G)
c.*220+5957G>C (n.*220+5957G>C)
c.573G>C (p.Lys191Asn)
c.600G>C (p.Lys200Asn)
c.1455G>C (p.Lys485Asn)
c.1269G>C (p.Lys423Asn)
c.1188G>C (p.Lys396Asn)
c.894G>C (p.Lys298Asn)
c.1275G>C (p.Lys425Asn)
2g.48688267C>TCA426124939GTF2A1L,LHCGR,STON1-GTF2A1Lc.1530G>A (p.Lys510=)
c.948-128G>A (n.948-128G>A)
c.3441+16587C>T (n.3441+16587C>T)
c.*274G>A (n.*274G>A)
c.1449G>A (p.Lys483=)
c.276+16587C>T (n.276+16587C>T)
c.*220+5957G>A (n.*220+5957G>A)
c.573G>A (p.Lys191=)
c.600G>A (p.Lys200=)
c.1455G>A (p.Lys485=)
c.1269G>A (p.Lys423=)
c.1188G>A (p.Lys396=)
c.894G>A (p.Lys298=)
c.1275G>A (p.Lys425=)
 dbSNP gnomAD v4
2g.48688268T>ACA46752912GTF2A1L,LHCGR,STON1-GTF2A1Lc.1529A>T (p.Lys510Met)
c.948-129A>T (n.948-129A>T)
c.3441+16588T>A (n.3441+16588T>A)
c.*273A>T (n.*273A>T)
c.1448A>T (p.Lys483Met)
c.276+16588T>A (n.276+16588T>A)
c.*220+5956A>T (n.*220+5956A>T)
c.572A>T (p.Lys191Met)
c.599A>T (p.Lys200Met)
c.1454A>T (p.Lys485Met)
c.1268A>T (p.Lys423Met)
c.1187A>T (p.Lys396Met)
c.893A>T (p.Lys298Met)
c.1274A>T (p.Lys425Met)
 dbSNP gnomAD v3 gnomAD v4
2g.48688268T>CCA346746480GTF2A1L,LHCGR,STON1-GTF2A1Lc.1529A>G (p.Lys510Arg)
c.948-129A>G (n.948-129A>G)
c.3441+16588T>C (n.3441+16588T>C)
c.*273A>G (n.*273A>G)
c.1448A>G (p.Lys483Arg)
c.276+16588T>C (n.276+16588T>C)
c.*220+5956A>G (n.*220+5956A>G)
c.572A>G (p.Lys191Arg)
c.599A>G (p.Lys200Arg)
c.1454A>G (p.Lys485Arg)
c.1268A>G (p.Lys423Arg)
c.1187A>G (p.Lys396Arg)
c.893A>G (p.Lys298Arg)
c.1274A>G (p.Lys425Arg)
 gnomAD v4
2g.48688268T>GCA346746479GTF2A1L,LHCGR,STON1-GTF2A1Lc.1529A>C (p.Lys510Thr)
c.948-129A>C (n.948-129A>C)
c.3441+16588T>G (n.3441+16588T>G)
c.*273A>C (n.*273A>C)
c.1448A>C (p.Lys483Thr)
c.276+16588T>G (n.276+16588T>G)
c.*220+5956A>C (n.*220+5956A>C)
c.572A>C (p.Lys191Thr)
c.599A>C (p.Lys200Thr)
c.1454A>C (p.Lys485Thr)
c.1268A>C (p.Lys423Thr)
c.1187A>C (p.Lys396Thr)
c.893A>C (p.Lys298Thr)
c.1274A>C (p.Lys425Thr)
2g.48688268T=CA1248601055GTF2A1L,LHCGR,STON1-GTF2A1Lc.1529A= (p.Lys510=)
c.948-129A= (n.948-129A=)
c.3441+16588T= (n.3441+16588T=)
c.*273A= (n.*273A=)
c.1448A= (p.Lys483=)
c.276+16588T= (n.276+16588T=)
c.*220+5956A= (n.*220+5956A=)
c.572A= (p.Lys191=)
c.599A= (p.Lys200=)
c.1454A= (p.Lys485=)
c.1268A= (p.Lys423=)
c.1187A= (p.Lys396=)
c.893A= (p.Lys298=)
c.1274A= (p.Lys425=)
2g.48688269T>ACA346746484GTF2A1L,LHCGR,STON1-GTF2A1Lc.1528A>T (p.Lys510Ter)
c.948-130A>T (n.948-130A>T)
c.3441+16589T>A (n.3441+16589T>A)
c.*272A>T (n.*272A>T)
c.1447A>T (p.Lys483Ter)
c.276+16589T>A (n.276+16589T>A)
c.*220+5955A>T (n.*220+5955A>T)
c.571A>T (p.Lys191Ter)
c.598A>T (p.Lys200Ter)
c.1453A>T (p.Lys485Ter)
c.1267A>T (p.Lys423Ter)
c.1186A>T (p.Lys396Ter)
c.892A>T (p.Lys298Ter)
c.1273A>T (p.Lys425Ter)
2g.48688269T>CCA346746491GTF2A1L,LHCGR,STON1-GTF2A1Lc.1528A>G (p.Lys510Glu)
c.948-130A>G (n.948-130A>G)
c.3441+16589T>C (n.3441+16589T>C)
c.*272A>G (n.*272A>G)
c.1447A>G (p.Lys483Glu)
c.276+16589T>C (n.276+16589T>C)
c.*220+5955A>G (n.*220+5955A>G)
c.571A>G (p.Lys191Glu)
c.598A>G (p.Lys200Glu)
c.1453A>G (p.Lys485Glu)
c.1267A>G (p.Lys423Glu)
c.1186A>G (p.Lys396Glu)
c.892A>G (p.Lys298Glu)
c.1273A>G (p.Lys425Glu)
2g.48688269T>GCA346746488GTF2A1L,LHCGR,STON1-GTF2A1Lc.1528A>C (p.Lys510Gln)
c.948-130A>C (n.948-130A>C)
c.3441+16589T>G (n.3441+16589T>G)
c.*272A>C (n.*272A>C)
c.1447A>C (p.Lys483Gln)
c.276+16589T>G (n.276+16589T>G)
c.*220+5955A>C (n.*220+5955A>C)
c.571A>C (p.Lys191Gln)
c.598A>C (p.Lys200Gln)
c.1453A>C (p.Lys485Gln)
c.1267A>C (p.Lys423Gln)
c.1186A>C (p.Lys396Gln)
c.892A>C (p.Lys298Gln)
c.1273A>C (p.Lys425Gln)
2g.48688270C>ACA346746495GTF2A1L,LHCGR,STON1-GTF2A1Lc.1527G>T (p.Met509Ile)
c.948-131G>T (n.948-131G>T)
c.3441+16590C>A (n.3441+16590C>A)
c.*271G>T (n.*271G>T)
c.1446G>T (p.Met482Ile)
c.276+16590C>A (n.276+16590C>A)
c.*220+5954G>T (n.*220+5954G>T)
c.570G>T (p.Met190Ile)
c.597G>T (p.Met199Ile)
c.1452G>T (p.Met484Ile)
c.1266G>T (p.Met422Ile)
c.1185G>T (p.Met395Ile)
c.891G>T (p.Met297Ile)
c.1272G>T (p.Met424Ile)
2g.48688270C>GCA346746498GTF2A1L,LHCGR,STON1-GTF2A1Lc.1527G>C (p.Met509Ile)
c.948-131G>C (n.948-131G>C)
c.3441+16590C>G (n.3441+16590C>G)
c.*271G>C (n.*271G>C)
c.1446G>C (p.Met482Ile)
c.276+16590C>G (n.276+16590C>G)
c.*220+5954G>C (n.*220+5954G>C)
c.570G>C (p.Met190Ile)
c.597G>C (p.Met199Ile)
c.1452G>C (p.Met484Ile)
c.1266G>C (p.Met422Ile)
c.1185G>C (p.Met395Ile)
c.891G>C (p.Met297Ile)
c.1272G>C (p.Met424Ile)
2g.48688270C>TCA346746506GTF2A1L,LHCGR,STON1-GTF2A1Lc.1527G>A (p.Met509Ile)
c.948-131G>A (n.948-131G>A)
c.3441+16590C>T (n.3441+16590C>T)
c.*271G>A (n.*271G>A)
c.1446G>A (p.Met482Ile)
c.276+16590C>T (n.276+16590C>T)
c.*220+5954G>A (n.*220+5954G>A)
c.570G>A (p.Met190Ile)
c.597G>A (p.Met199Ile)
c.1452G>A (p.Met484Ile)
c.1266G>A (p.Met422Ile)
c.1185G>A (p.Met395Ile)
c.891G>A (p.Met297Ile)
c.1272G>A (p.Met424Ile)
 COSMIC
2g.48688271A=CA1248601056GTF2A1L,LHCGR,STON1-GTF2A1Lc.1526T= (p.Met509=)
c.948-132T= (n.948-132T=)
c.3441+16591A= (n.3441+16591A=)
c.*270T= (n.*270T=)
c.1445T= (p.Met482=)
c.276+16591A= (n.276+16591A=)
c.*220+5953T= (n.*220+5953T=)
c.569T= (p.Met190=)
c.596T= (p.Met199=)
c.1451T= (p.Met484=)
c.1265T= (p.Met422=)
c.1184T= (p.Met395=)
c.890T= (p.Met297=)
c.1271T= (p.Met424=)
2g.48688271A>CCA346746508GTF2A1L,LHCGR,STON1-GTF2A1Lc.1526T>G (p.Met509Arg)
c.948-132T>G (n.948-132T>G)
c.3441+16591A>C (n.3441+16591A>C)
c.*270T>G (n.*270T>G)
c.1445T>G (p.Met482Arg)
c.276+16591A>C (n.276+16591A>C)
c.*220+5953T>G (n.*220+5953T>G)
c.569T>G (p.Met190Arg)
c.596T>G (p.Met199Arg)
c.1451T>G (p.Met484Arg)
c.1265T>G (p.Met422Arg)
c.1184T>G (p.Met395Arg)
c.890T>G (p.Met297Arg)
c.1271T>G (p.Met424Arg)
2g.48688271A>GCA1653020GTF2A1L,LHCGR,STON1-GTF2A1Lc.1526T>C (p.Met509Thr)
c.948-132T>C (n.948-132T>C)
c.3441+16591A>G (n.3441+16591A>G)
c.*270T>C (n.*270T>C)
c.1445T>C (p.Met482Thr)
c.276+16591A>G (n.276+16591A>G)
c.*220+5953T>C (n.*220+5953T>C)
c.569T>C (p.Met190Thr)
c.596T>C (p.Met199Thr)
c.1451T>C (p.Met484Thr)
c.1265T>C (p.Met422Thr)
c.1184T>C (p.Met395Thr)
c.890T>C (p.Met297Thr)
c.1271T>C (p.Met424Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688271A>TCA346746512GTF2A1L,LHCGR,STON1-GTF2A1Lc.1526T>A (p.Met509Lys)
c.948-132T>A (n.948-132T>A)
c.3441+16591A>T (n.3441+16591A>T)
c.*270T>A (n.*270T>A)
c.1445T>A (p.Met482Lys)
c.276+16591A>T (n.276+16591A>T)
c.*220+5953T>A (n.*220+5953T>A)
c.569T>A (p.Met190Lys)
c.596T>A (p.Met199Lys)
c.1451T>A (p.Met484Lys)
c.1265T>A (p.Met422Lys)
c.1184T>A (p.Met395Lys)
c.890T>A (p.Met297Lys)
c.1271T>A (p.Met424Lys)
 gnomAD v4
2g.48688272T>ACA346746516GTF2A1L,LHCGR,STON1-GTF2A1Lc.1525A>T (p.Met509Leu)
c.948-133A>T (n.948-133A>T)
c.3441+16592T>A (n.3441+16592T>A)
c.*269A>T (n.*269A>T)
c.1444A>T (p.Met482Leu)
c.276+16592T>A (n.276+16592T>A)
c.*220+5952A>T (n.*220+5952A>T)
c.568A>T (p.Met190Leu)
c.595A>T (p.Met199Leu)
c.1450A>T (p.Met484Leu)
c.1264A>T (p.Met422Leu)
c.1183A>T (p.Met395Leu)
c.889A>T (p.Met297Leu)
c.1270A>T (p.Met424Leu)
2g.48688272T>CCA46752923GTF2A1L,LHCGR,STON1-GTF2A1Lc.1525A>G (p.Met509Val)
c.948-133A>G (n.948-133A>G)
c.3441+16592T>C (n.3441+16592T>C)
c.*269A>G (n.*269A>G)
c.1444A>G (p.Met482Val)
c.276+16592T>C (n.276+16592T>C)
c.*220+5952A>G (n.*220+5952A>G)
c.568A>G (p.Met190Val)
c.595A>G (p.Met199Val)
c.1450A>G (p.Met484Val)
c.1264A>G (p.Met422Val)
c.1183A>G (p.Met395Val)
c.889A>G (p.Met297Val)
c.1270A>G (p.Met424Val)
 dbSNP gnomAD v4
2g.48688272T>GCA346746524GTF2A1L,LHCGR,STON1-GTF2A1Lc.1525A>C (p.Met509Leu)
c.948-133A>C (n.948-133A>C)
c.3441+16592T>G (n.3441+16592T>G)
c.*269A>C (n.*269A>C)
c.1444A>C (p.Met482Leu)
c.276+16592T>G (n.276+16592T>G)
c.*220+5952A>C (n.*220+5952A>C)
c.568A>C (p.Met190Leu)
c.595A>C (p.Met199Leu)
c.1450A>C (p.Met484Leu)
c.1264A>C (p.Met422Leu)
c.1183A>C (p.Met395Leu)
c.889A>C (p.Met297Leu)
c.1270A>C (p.Met424Leu)
2g.48688272T=CA1248601057GTF2A1L,LHCGR,STON1-GTF2A1Lc.1525A= (p.Met509=)
c.948-133A= (n.948-133A=)
c.3441+16592T= (n.3441+16592T=)
c.*269A= (n.*269A=)
c.1444A= (p.Met482=)
c.276+16592T= (n.276+16592T=)
c.*220+5952A= (n.*220+5952A=)
c.568A= (p.Met190=)
c.595A= (p.Met199=)
c.1450A= (p.Met484=)
c.1264A= (p.Met422=)
c.1183A= (p.Met395=)
c.889A= (p.Met297=)
c.1270A= (p.Met424=)
2g.48688273G>ACA426124948GTF2A1L,LHCGR,STON1-GTF2A1Lc.1524C>T (p.Tyr508=)
c.948-134C>T (n.948-134C>T)
c.3441+16593G>A (n.3441+16593G>A)
c.*268C>T (n.*268C>T)
c.1443C>T (p.Tyr481=)
c.276+16593G>A (n.276+16593G>A)
c.*220+5951C>T (n.*220+5951C>T)
c.567C>T (p.Tyr189=)
c.594C>T (p.Tyr198=)
c.1449C>T (p.Tyr483=)
c.1263C>T (p.Tyr421=)
c.1182C>T (p.Tyr394=)
c.888C>T (p.Tyr296=)
c.1269C>T (p.Tyr423=)
 COSMIC
2g.48688273G>CCA346746527GTF2A1L,LHCGR,STON1-GTF2A1Lc.1524C>G (p.Tyr508Ter)
c.948-134C>G (n.948-134C>G)
c.3441+16593G>C (n.3441+16593G>C)
c.*268C>G (n.*268C>G)
c.1443C>G (p.Tyr481Ter)
c.276+16593G>C (n.276+16593G>C)
c.*220+5951C>G (n.*220+5951C>G)
c.567C>G (p.Tyr189Ter)
c.594C>G (p.Tyr198Ter)
c.1449C>G (p.Tyr483Ter)
c.1263C>G (p.Tyr421Ter)
c.1182C>G (p.Tyr394Ter)
c.888C>G (p.Tyr296Ter)
c.1269C>G (p.Tyr423Ter)
2g.48688273G>TCA346746531GTF2A1L,LHCGR,STON1-GTF2A1Lc.1524C>A (p.Tyr508Ter)
c.948-134C>A (n.948-134C>A)
c.3441+16593G>T (n.3441+16593G>T)
c.*268C>A (n.*268C>A)
c.1443C>A (p.Tyr481Ter)
c.276+16593G>T (n.276+16593G>T)
c.*220+5951C>A (n.*220+5951C>A)
c.567C>A (p.Tyr189Ter)
c.594C>A (p.Tyr198Ter)
c.1449C>A (p.Tyr483Ter)
c.1263C>A (p.Tyr421Ter)
c.1182C>A (p.Tyr394Ter)
c.888C>A (p.Tyr296Ter)
c.1269C>A (p.Tyr423Ter)
 gnomAD v4
2g.48688274T>ACA346746540GTF2A1L,LHCGR,STON1-GTF2A1Lc.1523A>T (p.Tyr508Phe)
c.948-135A>T (n.948-135A>T)
c.3441+16594T>A (n.3441+16594T>A)
c.*267A>T (n.*267A>T)
c.1442A>T (p.Tyr481Phe)
c.276+16594T>A (n.276+16594T>A)
c.*220+5950A>T (n.*220+5950A>T)
c.566A>T (p.Tyr189Phe)
c.593A>T (p.Tyr198Phe)
c.1448A>T (p.Tyr483Phe)
c.1262A>T (p.Tyr421Phe)
c.1181A>T (p.Tyr394Phe)
c.887A>T (p.Tyr296Phe)
c.1268A>T (p.Tyr423Phe)
 COSMIC
2g.48688274T>CCA346746537GTF2A1L,LHCGR,STON1-GTF2A1Lc.1523A>G (p.Tyr508Cys)
c.948-135A>G (n.948-135A>G)
c.3441+16594T>C (n.3441+16594T>C)
c.*267A>G (n.*267A>G)
c.1442A>G (p.Tyr481Cys)
c.276+16594T>C (n.276+16594T>C)
c.*220+5950A>G (n.*220+5950A>G)
c.566A>G (p.Tyr189Cys)
c.593A>G (p.Tyr198Cys)
c.1448A>G (p.Tyr483Cys)
c.1262A>G (p.Tyr421Cys)
c.1181A>G (p.Tyr394Cys)
c.887A>G (p.Tyr296Cys)
c.1268A>G (p.Tyr423Cys)
2g.48688274T>GCA346746534GTF2A1L,LHCGR,STON1-GTF2A1Lc.1523A>C (p.Tyr508Ser)
c.948-135A>C (n.948-135A>C)
c.3441+16594T>G (n.3441+16594T>G)
c.*267A>C (n.*267A>C)
c.1442A>C (p.Tyr481Ser)
c.276+16594T>G (n.276+16594T>G)
c.*220+5950A>C (n.*220+5950A>C)
c.566A>C (p.Tyr189Ser)
c.593A>C (p.Tyr198Ser)
c.1448A>C (p.Tyr483Ser)
c.1262A>C (p.Tyr421Ser)
c.1181A>C (p.Tyr394Ser)
c.887A>C (p.Tyr296Ser)
c.1268A>C (p.Tyr423Ser)
2g.48688275A>CCA346746541GTF2A1L,LHCGR,STON1-GTF2A1Lc.1522T>G (p.Tyr508Asp)
c.948-136T>G (n.948-136T>G)
c.3441+16595A>C (n.3441+16595A>C)
c.*266T>G (n.*266T>G)
c.1441T>G (p.Tyr481Asp)
c.276+16595A>C (n.276+16595A>C)
c.*220+5949T>G (n.*220+5949T>G)
c.565T>G (p.Tyr189Asp)
c.592T>G (p.Tyr198Asp)
c.1447T>G (p.Tyr483Asp)
c.1261T>G (p.Tyr421Asp)
c.1180T>G (p.Tyr394Asp)
c.886T>G (p.Tyr296Asp)
c.1267T>G (p.Tyr423Asp)
2g.48688275A>GCA346746542GTF2A1L,LHCGR,STON1-GTF2A1Lc.1522T>C (p.Tyr508His)
c.948-136T>C (n.948-136T>C)
c.3441+16595A>G (n.3441+16595A>G)
c.*266T>C (n.*266T>C)
c.1441T>C (p.Tyr481His)
c.276+16595A>G (n.276+16595A>G)
c.*220+5949T>C (n.*220+5949T>C)
c.565T>C (p.Tyr189His)
c.592T>C (p.Tyr198His)
c.1447T>C (p.Tyr483His)
c.1261T>C (p.Tyr421His)
c.1180T>C (p.Tyr394His)
c.886T>C (p.Tyr296His)
c.1267T>C (p.Tyr423His)
2g.48688275A>TCA346746543GTF2A1L,LHCGR,STON1-GTF2A1Lc.1522T>A (p.Tyr508Asn)
c.948-136T>A (n.948-136T>A)
c.3441+16595A>T (n.3441+16595A>T)
c.*266T>A (n.*266T>A)
c.1441T>A (p.Tyr481Asn)
c.276+16595A>T (n.276+16595A>T)
c.*220+5949T>A (n.*220+5949T>A)
c.565T>A (p.Tyr189Asn)
c.592T>A (p.Tyr198Asn)
c.1447T>A (p.Tyr483Asn)
c.1261T>A (p.Tyr421Asn)
c.1180T>A (p.Tyr394Asn)
c.886T>A (p.Tyr296Asn)
c.1267T>A (p.Tyr423Asn)
2g.48688276A>CCA346746544GTF2A1L,LHCGR,STON1-GTF2A1Lc.1521T>G (p.Asn507Lys)
c.948-137T>G (n.948-137T>G)
c.3441+16596A>C (n.3441+16596A>C)
c.*265T>G (n.*265T>G)
c.1440T>G (p.Asn480Lys)
c.276+16596A>C (n.276+16596A>C)
c.*220+5948T>G (n.*220+5948T>G)
c.564T>G (p.Asn188Lys)
c.591T>G (p.Asn197Lys)
c.1446T>G (p.Asn482Lys)
c.1260T>G (p.Asn420Lys)
c.1179T>G (p.Asn393Lys)
c.885T>G (p.Asn295Lys)
c.1266T>G (p.Asn422Lys)
2g.48688276A>GCA426124951GTF2A1L,LHCGR,STON1-GTF2A1Lc.1521T>C (p.Asn507=)
c.948-137T>C (n.948-137T>C)
c.3441+16596A>G (n.3441+16596A>G)
c.*265T>C (n.*265T>C)
c.1440T>C (p.Asn480=)
c.276+16596A>G (n.276+16596A>G)
c.*220+5948T>C (n.*220+5948T>C)
c.564T>C (p.Asn188=)
c.591T>C (p.Asn197=)
c.1446T>C (p.Asn482=)
c.1260T>C (p.Asn420=)
c.1179T>C (p.Asn393=)
c.885T>C (p.Asn295=)
c.1266T>C (p.Asn422=)
 gnomAD v4
2g.48688276A>TCA346746546GTF2A1L,LHCGR,STON1-GTF2A1Lc.1521T>A (p.Asn507Lys)
c.948-137T>A (n.948-137T>A)
c.3441+16596A>T (n.3441+16596A>T)
c.*265T>A (n.*265T>A)
c.1440T>A (p.Asn480Lys)
c.276+16596A>T (n.276+16596A>T)
c.*220+5948T>A (n.*220+5948T>A)
c.564T>A (p.Asn188Lys)
c.591T>A (p.Asn197Lys)
c.1446T>A (p.Asn482Lys)
c.1260T>A (p.Asn420Lys)
c.1179T>A (p.Asn393Lys)
c.885T>A (p.Asn295Lys)
c.1266T>A (p.Asn422Lys)
2g.48688277T>ACA346746549GTF2A1L,LHCGR,STON1-GTF2A1Lc.1520A>T (p.Asn507Ile)
c.948-138A>T (n.948-138A>T)
c.3441+16597T>A (n.3441+16597T>A)
c.*264A>T (n.*264A>T)
c.1439A>T (p.Asn480Ile)
c.276+16597T>A (n.276+16597T>A)
c.*220+5947A>T (n.*220+5947A>T)
c.563A>T (p.Asn188Ile)
c.590A>T (p.Asn197Ile)
c.1445A>T (p.Asn482Ile)
c.1259A>T (p.Asn420Ile)
c.1178A>T (p.Asn393Ile)
c.884A>T (p.Asn295Ile)
c.1265A>T (p.Asn422Ile)
2g.48688277T>CCA346746551GTF2A1L,LHCGR,STON1-GTF2A1Lc.1520A>G (p.Asn507Ser)
c.948-138A>G (n.948-138A>G)
c.3441+16597T>C (n.3441+16597T>C)
c.*264A>G (n.*264A>G)
c.1439A>G (p.Asn480Ser)
c.276+16597T>C (n.276+16597T>C)
c.*220+5947A>G (n.*220+5947A>G)
c.563A>G (p.Asn188Ser)
c.590A>G (p.Asn197Ser)
c.1445A>G (p.Asn482Ser)
c.1259A>G (p.Asn420Ser)
c.1178A>G (p.Asn393Ser)
c.884A>G (p.Asn295Ser)
c.1265A>G (p.Asn422Ser)
 ClinVar dbSNP gnomAD v4
2g.48688277T>GCA346746552GTF2A1L,LHCGR,STON1-GTF2A1Lc.1520A>C (p.Asn507Thr)
c.948-138A>C (n.948-138A>C)
c.3441+16597T>G (n.3441+16597T>G)
c.*264A>C (n.*264A>C)
c.1439A>C (p.Asn480Thr)
c.276+16597T>G (n.276+16597T>G)
c.*220+5947A>C (n.*220+5947A>C)
c.563A>C (p.Asn188Thr)
c.590A>C (p.Asn197Thr)
c.1445A>C (p.Asn482Thr)
c.1259A>C (p.Asn420Thr)
c.1178A>C (p.Asn393Thr)
c.884A>C (p.Asn295Thr)
c.1265A>C (p.Asn422Thr)
2g.48688277T=CA1248601058GTF2A1L,LHCGR,STON1-GTF2A1Lc.1520A= (p.Asn507=)
c.948-138A= (n.948-138A=)
c.3441+16597T= (n.3441+16597T=)
c.*264A= (n.*264A=)
c.1439A= (p.Asn480=)
c.276+16597T= (n.276+16597T=)
c.*220+5947A= (n.*220+5947A=)
c.563A= (p.Asn188=)
c.590A= (p.Asn197=)
c.1445A= (p.Asn482=)
c.1259A= (p.Asn420=)
c.1178A= (p.Asn393=)
c.884A= (p.Asn295=)
c.1265A= (p.Asn422=)
2g.48688278T>ACA346746554GTF2A1L,LHCGR,STON1-GTF2A1Lc.1519A>T (p.Asn507Tyr)
c.948-139A>T (n.948-139A>T)
c.3441+16598T>A (n.3441+16598T>A)
c.*263A>T (n.*263A>T)
c.1438A>T (p.Asn480Tyr)
c.276+16598T>A (n.276+16598T>A)
c.*220+5946A>T (n.*220+5946A>T)
c.562A>T (p.Asn188Tyr)
c.589A>T (p.Asn197Tyr)
c.1444A>T (p.Asn482Tyr)
c.1258A>T (p.Asn420Tyr)
c.1177A>T (p.Asn393Tyr)
c.883A>T (p.Asn295Tyr)
c.1264A>T (p.Asn422Tyr)
2g.48688278T>CCA346746556GTF2A1L,LHCGR,STON1-GTF2A1Lc.1519A>G (p.Asn507Asp)
c.948-139A>G (n.948-139A>G)
c.3441+16598T>C (n.3441+16598T>C)
c.*263A>G (n.*263A>G)
c.1438A>G (p.Asn480Asp)
c.276+16598T>C (n.276+16598T>C)
c.*220+5946A>G (n.*220+5946A>G)
c.562A>G (p.Asn188Asp)
c.589A>G (p.Asn197Asp)
c.1444A>G (p.Asn482Asp)
c.1258A>G (p.Asn420Asp)
c.1177A>G (p.Asn393Asp)
c.883A>G (p.Asn295Asp)
c.1264A>G (p.Asn422Asp)
2g.48688278T>GCA346746559GTF2A1L,LHCGR,STON1-GTF2A1Lc.1519A>C (p.Asn507His)
c.948-139A>C (n.948-139A>C)
c.3441+16598T>G (n.3441+16598T>G)
c.*263A>C (n.*263A>C)
c.1438A>C (p.Asn480His)
c.276+16598T>G (n.276+16598T>G)
c.*220+5946A>C (n.*220+5946A>C)
c.562A>C (p.Asn188His)
c.589A>C (p.Asn197His)
c.1444A>C (p.Asn482His)
c.1258A>C (p.Asn420His)
c.1177A>C (p.Asn393His)
c.883A>C (p.Asn295His)
c.1264A>C (p.Asn422His)
2g.48688279G>ACA426124952GTF2A1L,LHCGR,STON1-GTF2A1Lc.1518C>T (p.Ser506=)
c.948-140C>T (n.948-140C>T)
c.3441+16599G>A (n.3441+16599G>A)
c.*262C>T (n.*262C>T)
c.1437C>T (p.Ser479=)
c.276+16599G>A (n.276+16599G>A)
c.*220+5945C>T (n.*220+5945C>T)
c.561C>T (p.Ser187=)
c.588C>T (p.Ser196=)
c.1443C>T (p.Ser481=)
c.1257C>T (p.Ser419=)
c.1176C>T (p.Ser392=)
c.882C>T (p.Ser294=)
c.1263C>T (p.Ser421=)
 gnomAD v4
2g.48688279G>CCA346746562GTF2A1L,LHCGR,STON1-GTF2A1Lc.1518C>G (p.Ser506Arg)
c.948-140C>G (n.948-140C>G)
c.3441+16599G>C (n.3441+16599G>C)
c.*262C>G (n.*262C>G)
c.1437C>G (p.Ser479Arg)
c.276+16599G>C (n.276+16599G>C)
c.*220+5945C>G (n.*220+5945C>G)
c.561C>G (p.Ser187Arg)
c.588C>G (p.Ser196Arg)
c.1443C>G (p.Ser481Arg)
c.1257C>G (p.Ser419Arg)
c.1176C>G (p.Ser392Arg)
c.882C>G (p.Ser294Arg)
c.1263C>G (p.Ser421Arg)
2g.48688279G>TCA346746565GTF2A1L,LHCGR,STON1-GTF2A1Lc.1518C>A (p.Ser506Arg)
c.948-140C>A (n.948-140C>A)
c.3441+16599G>T (n.3441+16599G>T)
c.*262C>A (n.*262C>A)
c.1437C>A (p.Ser479Arg)
c.276+16599G>T (n.276+16599G>T)
c.*220+5945C>A (n.*220+5945C>A)
c.561C>A (p.Ser187Arg)
c.588C>A (p.Ser196Arg)
c.1443C>A (p.Ser481Arg)
c.1257C>A (p.Ser419Arg)
c.1176C>A (p.Ser392Arg)
c.882C>A (p.Ser294Arg)
c.1263C>A (p.Ser421Arg)
2g.48688280C>ACA346746569GTF2A1L,LHCGR,STON1-GTF2A1Lc.1517G>T (p.Ser506Ile)
c.948-141G>T (n.948-141G>T)
c.3441+16600C>A (n.3441+16600C>A)
c.*261G>T (n.*261G>T)
c.1436G>T (p.Ser479Ile)
c.276+16600C>A (n.276+16600C>A)
c.*220+5944G>T (n.*220+5944G>T)
c.560G>T (p.Ser187Ile)
c.587G>T (p.Ser196Ile)
c.1442G>T (p.Ser481Ile)
c.1256G>T (p.Ser419Ile)
c.1175G>T (p.Ser392Ile)
c.881G>T (p.Ser294Ile)
c.1262G>T (p.Ser421Ile)
 COSMIC
2g.48688280C>GCA346746571GTF2A1L,LHCGR,STON1-GTF2A1Lc.1517G>C (p.Ser506Thr)
c.948-141G>C (n.948-141G>C)
c.3441+16600C>G (n.3441+16600C>G)
c.*261G>C (n.*261G>C)
c.1436G>C (p.Ser479Thr)
c.276+16600C>G (n.276+16600C>G)
c.*220+5944G>C (n.*220+5944G>C)
c.560G>C (p.Ser187Thr)
c.587G>C (p.Ser196Thr)
c.1442G>C (p.Ser481Thr)
c.1256G>C (p.Ser419Thr)
c.1175G>C (p.Ser392Thr)
c.881G>C (p.Ser294Thr)
c.1262G>C (p.Ser421Thr)
2g.48688280C>TCA346746567GTF2A1L,LHCGR,STON1-GTF2A1Lc.1517G>A (p.Ser506Asn)
c.948-141G>A (n.948-141G>A)
c.3441+16600C>T (n.3441+16600C>T)
c.*261G>A (n.*261G>A)
c.1436G>A (p.Ser479Asn)
c.276+16600C>T (n.276+16600C>T)
c.*220+5944G>A (n.*220+5944G>A)
c.560G>A (p.Ser187Asn)
c.587G>A (p.Ser196Asn)
c.1442G>A (p.Ser481Asn)
c.1256G>A (p.Ser419Asn)
c.1175G>A (p.Ser392Asn)
c.881G>A (p.Ser294Asn)
c.1262G>A (p.Ser421Asn)
2g.48688281T>ACA346746574GTF2A1L,LHCGR,STON1-GTF2A1Lc.1516A>T (p.Ser506Cys)
c.948-142A>T (n.948-142A>T)
c.3441+16601T>A (n.3441+16601T>A)
c.*260A>T (n.*260A>T)
c.1435A>T (p.Ser479Cys)
c.276+16601T>A (n.276+16601T>A)
c.*220+5943A>T (n.*220+5943A>T)
c.559A>T (p.Ser187Cys)
c.586A>T (p.Ser196Cys)
c.1441A>T (p.Ser481Cys)
c.1255A>T (p.Ser419Cys)
c.1174A>T (p.Ser392Cys)
c.880A>T (p.Ser294Cys)
c.1261A>T (p.Ser421Cys)
2g.48688281T>CCA346746578GTF2A1L,LHCGR,STON1-GTF2A1Lc.1516A>G (p.Ser506Gly)
c.948-142A>G (n.948-142A>G)
c.3441+16601T>C (n.3441+16601T>C)
c.*260A>G (n.*260A>G)
c.1435A>G (p.Ser479Gly)
c.276+16601T>C (n.276+16601T>C)
c.*220+5943A>G (n.*220+5943A>G)
c.559A>G (p.Ser187Gly)
c.586A>G (p.Ser196Gly)
c.1441A>G (p.Ser481Gly)
c.1255A>G (p.Ser419Gly)
c.1174A>G (p.Ser392Gly)
c.880A>G (p.Ser294Gly)
c.1261A>G (p.Ser421Gly)
 gnomAD v4
2g.48688281T>GCA346746576GTF2A1L,LHCGR,STON1-GTF2A1Lc.1516A>C (p.Ser506Arg)
c.948-142A>C (n.948-142A>C)
c.3441+16601T>G (n.3441+16601T>G)
c.*260A>C (n.*260A>C)
c.1435A>C (p.Ser479Arg)
c.276+16601T>G (n.276+16601T>G)
c.*220+5943A>C (n.*220+5943A>C)
c.559A>C (p.Ser187Arg)
c.586A>C (p.Ser196Arg)
c.1441A>C (p.Ser481Arg)
c.1255A>C (p.Ser419Arg)
c.1174A>C (p.Ser392Arg)
c.880A>C (p.Ser294Arg)
c.1261A>C (p.Ser421Arg)

Number of alleles fetched