Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.48688326A=CA1248601082GTF2A1L,LHCGR,STON1-GTF2A1Lc.1471T= (p.Trp491=)
c.948-187T= (n.948-187T=)
c.3441+16646A= (n.3441+16646A=)
c.*215T= (n.*215T=)
c.1390T= (p.Trp464=)
c.276+16646A= (n.276+16646A=)
c.*220+5898T= (n.*220+5898T=)
c.514T= (p.Trp172=)
c.541T= (p.Trp181=)
c.1396T= (p.Trp466=)
c.1210T= (p.Trp404=)
c.1129T= (p.Trp377=)
c.835T= (p.Trp279=)
c.1216T= (p.Trp406=)
2g.48688326A>CCA346746811GTF2A1L,LHCGR,STON1-GTF2A1Lc.1471T>G (p.Trp491Gly)
c.948-187T>G (n.948-187T>G)
c.3441+16646A>C (n.3441+16646A>C)
c.*215T>G (n.*215T>G)
c.1390T>G (p.Trp464Gly)
c.276+16646A>C (n.276+16646A>C)
c.*220+5898T>G (n.*220+5898T>G)
c.514T>G (p.Trp172Gly)
c.541T>G (p.Trp181Gly)
c.1396T>G (p.Trp466Gly)
c.1210T>G (p.Trp404Gly)
c.1129T>G (p.Trp377Gly)
c.835T>G (p.Trp279Gly)
c.1216T>G (p.Trp406Gly)
2g.48688326A>GCA16617732GTF2A1L,LHCGR,STON1-GTF2A1Lc.1471T>C (p.Trp491Arg)
c.948-187T>C (n.948-187T>C)
c.3441+16646A>G (n.3441+16646A>G)
c.*215T>C (n.*215T>C)
c.1390T>C (p.Trp464Arg)
c.276+16646A>G (n.276+16646A>G)
c.*220+5898T>C (n.*220+5898T>C)
c.514T>C (p.Trp172Arg)
c.541T>C (p.Trp181Arg)
c.1396T>C (p.Trp466Arg)
c.1210T>C (p.Trp404Arg)
c.1129T>C (p.Trp377Arg)
c.835T>C (p.Trp279Arg)
c.1216T>C (p.Trp406Arg)
 ClinVar dbSNP gnomAD v4
2g.48688326A>TCA346746813GTF2A1L,LHCGR,STON1-GTF2A1Lc.1471T>A (p.Trp491Arg)
c.948-187T>A (n.948-187T>A)
c.3441+16646A>T (n.3441+16646A>T)
c.*215T>A (n.*215T>A)
c.1390T>A (p.Trp464Arg)
c.276+16646A>T (n.276+16646A>T)
c.*220+5898T>A (n.*220+5898T>A)
c.514T>A (p.Trp172Arg)
c.541T>A (p.Trp181Arg)
c.1396T>A (p.Trp466Arg)
c.1210T>A (p.Trp404Arg)
c.1129T>A (p.Trp377Arg)
c.835T>A (p.Trp279Arg)
c.1216T>A (p.Trp406Arg)
2g.48688327T>ACA426125028GTF2A1L,LHCGR,STON1-GTF2A1Lc.1470A>T (p.Gly490=)
c.948-188A>T (n.948-188A>T)
c.3441+16647T>A (n.3441+16647T>A)
c.*214A>T (n.*214A>T)
c.1389A>T (p.Gly463=)
c.276+16647T>A (n.276+16647T>A)
c.*220+5897A>T (n.*220+5897A>T)
c.513A>T (p.Gly171=)
c.540A>T (p.Gly180=)
c.1395A>T (p.Gly465=)
c.1209A>T (p.Gly403=)
c.1128A>T (p.Gly376=)
c.834A>T (p.Gly278=)
c.1215A>T (p.Gly405=)
 gnomAD v4
2g.48688327T>CCA426125029GTF2A1L,LHCGR,STON1-GTF2A1Lc.1470A>G (p.Gly490=)
c.948-188A>G (n.948-188A>G)
c.3441+16647T>C (n.3441+16647T>C)
c.*214A>G (n.*214A>G)
c.1389A>G (p.Gly463=)
c.276+16647T>C (n.276+16647T>C)
c.*220+5897A>G (n.*220+5897A>G)
c.513A>G (p.Gly171=)
c.540A>G (p.Gly180=)
c.1395A>G (p.Gly465=)
c.1209A>G (p.Gly403=)
c.1128A>G (p.Gly376=)
c.834A>G (p.Gly278=)
c.1215A>G (p.Gly405=)
2g.48688327T>GCA426125031GTF2A1L,LHCGR,STON1-GTF2A1Lc.1470A>C (p.Gly490=)
c.948-188A>C (n.948-188A>C)
c.3441+16647T>G (n.3441+16647T>G)
c.*214A>C (n.*214A>C)
c.1389A>C (p.Gly463=)
c.276+16647T>G (n.276+16647T>G)
c.*220+5897A>C (n.*220+5897A>C)
c.513A>C (p.Gly171=)
c.540A>C (p.Gly180=)
c.1395A>C (p.Gly465=)
c.1209A>C (p.Gly403=)
c.1128A>C (p.Gly376=)
c.834A>C (p.Gly278=)
c.1215A>C (p.Gly405=)
2g.48688328C>ACA346746815GTF2A1L,LHCGR,STON1-GTF2A1Lc.1469G>T (p.Gly490Val)
c.948-189G>T (n.948-189G>T)
c.3441+16648C>A (n.3441+16648C>A)
c.*213G>T (n.*213G>T)
c.1388G>T (p.Gly463Val)
c.276+16648C>A (n.276+16648C>A)
c.*220+5896G>T (n.*220+5896G>T)
c.512G>T (p.Gly171Val)
c.539G>T (p.Gly180Val)
c.1394G>T (p.Gly465Val)
c.1208G>T (p.Gly403Val)
c.1127G>T (p.Gly376Val)
c.833G>T (p.Gly278Val)
c.1214G>T (p.Gly405Val)
2g.48688328C>GCA346746818GTF2A1L,LHCGR,STON1-GTF2A1Lc.1469G>C (p.Gly490Ala)
c.948-189G>C (n.948-189G>C)
c.3441+16648C>G (n.3441+16648C>G)
c.*213G>C (n.*213G>C)
c.1388G>C (p.Gly463Ala)
c.276+16648C>G (n.276+16648C>G)
c.*220+5896G>C (n.*220+5896G>C)
c.512G>C (p.Gly171Ala)
c.539G>C (p.Gly180Ala)
c.1394G>C (p.Gly465Ala)
c.1208G>C (p.Gly403Ala)
c.1127G>C (p.Gly376Ala)
c.833G>C (p.Gly278Ala)
c.1214G>C (p.Gly405Ala)
2g.48688328C>TCA346746820GTF2A1L,LHCGR,STON1-GTF2A1Lc.1469G>A (p.Gly490Glu)
c.948-189G>A (n.948-189G>A)
c.3441+16648C>T (n.3441+16648C>T)
c.*213G>A (n.*213G>A)
c.1388G>A (p.Gly463Glu)
c.276+16648C>T (n.276+16648C>T)
c.*220+5896G>A (n.*220+5896G>A)
c.512G>A (p.Gly171Glu)
c.539G>A (p.Gly180Glu)
c.1394G>A (p.Gly465Glu)
c.1208G>A (p.Gly403Glu)
c.1127G>A (p.Gly376Glu)
c.833G>A (p.Gly278Glu)
c.1214G>A (p.Gly405Glu)
 gnomAD v4
2g.48688329C>ACA346746825GTF2A1L,LHCGR,STON1-GTF2A1Lc.1468G>T (p.Gly490Ter)
c.948-190G>T (n.948-190G>T)
c.3441+16649C>A (n.3441+16649C>A)
c.*212G>T (n.*212G>T)
c.1387G>T (p.Gly463Ter)
c.276+16649C>A (n.276+16649C>A)
c.*220+5895G>T (n.*220+5895G>T)
c.511G>T (p.Gly171Ter)
c.538G>T (p.Gly180Ter)
c.1393G>T (p.Gly465Ter)
c.1207G>T (p.Gly403Ter)
c.1126G>T (p.Gly376Ter)
c.832G>T (p.Gly278Ter)
c.1213G>T (p.Gly405Ter)
2g.48688329C=CA1248601083GTF2A1L,LHCGR,STON1-GTF2A1Lc.1468G= (p.Gly490=)
c.948-190G= (n.948-190G=)
c.3441+16649C= (n.3441+16649C=)
c.*212G= (n.*212G=)
c.1387G= (p.Gly463=)
c.276+16649C= (n.276+16649C=)
c.*220+5895G= (n.*220+5895G=)
c.511G= (p.Gly171=)
c.538G= (p.Gly180=)
c.1393G= (p.Gly465=)
c.1207G= (p.Gly403=)
c.1126G= (p.Gly376=)
c.832G= (p.Gly278=)
c.1213G= (p.Gly405=)
2g.48688329C>GCA346746826GTF2A1L,LHCGR,STON1-GTF2A1Lc.1468G>C (p.Gly490Arg)
c.948-190G>C (n.948-190G>C)
c.3441+16649C>G (n.3441+16649C>G)
c.*212G>C (n.*212G>C)
c.1387G>C (p.Gly463Arg)
c.276+16649C>G (n.276+16649C>G)
c.*220+5895G>C (n.*220+5895G>C)
c.511G>C (p.Gly171Arg)
c.538G>C (p.Gly180Arg)
c.1393G>C (p.Gly465Arg)
c.1207G>C (p.Gly403Arg)
c.1126G>C (p.Gly376Arg)
c.832G>C (p.Gly278Arg)
c.1213G>C (p.Gly405Arg)
2g.48688329C>TCA346746827GTF2A1L,LHCGR,STON1-GTF2A1Lc.1468G>A (p.Gly490Arg)
c.948-190G>A (n.948-190G>A)
c.3441+16649C>T (n.3441+16649C>T)
c.*212G>A (n.*212G>A)
c.1387G>A (p.Gly463Arg)
c.276+16649C>T (n.276+16649C>T)
c.*220+5895G>A (n.*220+5895G>A)
c.511G>A (p.Gly171Arg)
c.538G>A (p.Gly180Arg)
c.1393G>A (p.Gly465Arg)
c.1207G>A (p.Gly403Arg)
c.1126G>A (p.Gly376Arg)
c.832G>A (p.Gly278Arg)
c.1213G>A (p.Gly405Arg)
 gnomAD v4
2g.48688330T>ACA426125037GTF2A1L,LHCGR,STON1-GTF2A1Lc.1467A>T (p.Gly489=)
c.948-191A>T (n.948-191A>T)
c.3441+16650T>A (n.3441+16650T>A)
c.*211A>T (n.*211A>T)
c.1386A>T (p.Gly462=)
c.276+16650T>A (n.276+16650T>A)
c.*220+5894A>T (n.*220+5894A>T)
c.510A>T (p.Gly170=)
c.537A>T (p.Gly179=)
c.1392A>T (p.Gly464=)
c.1206A>T (p.Gly402=)
c.1125A>T (p.Gly375=)
c.831A>T (p.Gly277=)
c.1212A>T (p.Gly404=)
2g.48688330T>CCA426125038GTF2A1L,LHCGR,STON1-GTF2A1Lc.1467A>G (p.Gly489=)
c.948-191A>G (n.948-191A>G)
c.3441+16650T>C (n.3441+16650T>C)
c.*211A>G (n.*211A>G)
c.1386A>G (p.Gly462=)
c.276+16650T>C (n.276+16650T>C)
c.*220+5894A>G (n.*220+5894A>G)
c.510A>G (p.Gly170=)
c.537A>G (p.Gly179=)
c.1392A>G (p.Gly464=)
c.1206A>G (p.Gly402=)
c.1125A>G (p.Gly375=)
c.831A>G (p.Gly277=)
c.1212A>G (p.Gly404=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48688330T>GCA426125039GTF2A1L,LHCGR,STON1-GTF2A1Lc.1467A>C (p.Gly489=)
c.948-191A>C (n.948-191A>C)
c.3441+16650T>G (n.3441+16650T>G)
c.*211A>C (n.*211A>C)
c.1386A>C (p.Gly462=)
c.276+16650T>G (n.276+16650T>G)
c.*220+5894A>C (n.*220+5894A>C)
c.510A>C (p.Gly170=)
c.537A>C (p.Gly179=)
c.1392A>C (p.Gly464=)
c.1206A>C (p.Gly402=)
c.1125A>C (p.Gly375=)
c.831A>C (p.Gly277=)
c.1212A>C (p.Gly404=)
2g.48688330T=CA1248601085GTF2A1L,LHCGR,STON1-GTF2A1Lc.1467A= (p.Gly489=)
c.948-191A= (n.948-191A=)
c.3441+16650T= (n.3441+16650T=)
c.*211A= (n.*211A=)
c.1386A= (p.Gly462=)
c.276+16650T= (n.276+16650T=)
c.*220+5894A= (n.*220+5894A=)
c.510A= (p.Gly170=)
c.537A= (p.Gly179=)
c.1392A= (p.Gly464=)
c.1206A= (p.Gly402=)
c.1125A= (p.Gly375=)
c.831A= (p.Gly277=)
c.1212A= (p.Gly404=)
2g.48688330_48688331insGATTCA1248601084GTF2A1L,LHCGR,STON1-GTF2A1Lc.1467_1468insATCA (p.Gly490IlefsTer?)
c.948-191_948-190insATCA (n.948-191_948-190insATCA)
c.3441+16650_3441+16651insGATT (n.3441+16650_3441+16651insGATT)
c.*211_*212insATCA (n.*211_*212insATCA)
c.1386_1387insATCA (p.Gly463IlefsTer?)
c.276+16650_276+16651insGATT (n.276+16650_276+16651insGATT)
c.*220+5894_*220+5895insATCA (n.*220+5894_*220+5895insATCA)
c.510_511insATCA (p.Gly171IlefsTer?)
c.537_538insATCA (p.Gly180IlefsTer?)
c.1392_1393insATCA (p.Gly465IlefsTer?)
c.1206_1207insATCA (p.Gly403IlefsTer?)
c.1125_1126insATCA (p.Gly376IlefsTer?)
c.831_832insATCA (p.Gly278IlefsTer?)
c.1212_1213insATCA (p.Gly405IlefsTer?)
 dbSNP
2g.48688331C>ACA346746834GTF2A1L,LHCGR,STON1-GTF2A1Lc.1466G>T (p.Gly489Val)
c.948-192G>T (n.948-192G>T)
c.3441+16651C>A (n.3441+16651C>A)
c.*210G>T (n.*210G>T)
c.1385G>T (p.Gly462Val)
c.276+16651C>A (n.276+16651C>A)
c.*220+5893G>T (n.*220+5893G>T)
c.509G>T (p.Gly170Val)
c.536G>T (p.Gly179Val)
c.1391G>T (p.Gly464Val)
c.1205G>T (p.Gly402Val)
c.1124G>T (p.Gly375Val)
c.830G>T (p.Gly277Val)
c.1211G>T (p.Gly404Val)
 ClinVar
2g.48688331C=CA1248601086GTF2A1L,LHCGR,STON1-GTF2A1Lc.1466G= (p.Gly489=)
c.948-192G= (n.948-192G=)
c.3441+16651C= (n.3441+16651C=)
c.*210G= (n.*210G=)
c.1385G= (p.Gly462=)
c.276+16651C= (n.276+16651C=)
c.*220+5893G= (n.*220+5893G=)
c.509G= (p.Gly170=)
c.536G= (p.Gly179=)
c.1391G= (p.Gly464=)
c.1205G= (p.Gly402=)
c.1124G= (p.Gly375=)
c.830G= (p.Gly277=)
c.1211G= (p.Gly404=)
2g.48688331C>GCA346746832GTF2A1L,LHCGR,STON1-GTF2A1Lc.1466G>C (p.Gly489Ala)
c.948-192G>C (n.948-192G>C)
c.3441+16651C>G (n.3441+16651C>G)
c.*210G>C (n.*210G>C)
c.1385G>C (p.Gly462Ala)
c.276+16651C>G (n.276+16651C>G)
c.*220+5893G>C (n.*220+5893G>C)
c.509G>C (p.Gly170Ala)
c.536G>C (p.Gly179Ala)
c.1391G>C (p.Gly464Ala)
c.1205G>C (p.Gly402Ala)
c.1124G>C (p.Gly375Ala)
c.830G>C (p.Gly277Ala)
c.1211G>C (p.Gly404Ala)
2g.48688331C>TCA346746829GTF2A1L,LHCGR,STON1-GTF2A1Lc.1466G>A (p.Gly489Glu)
c.948-192G>A (n.948-192G>A)
c.3441+16651C>T (n.3441+16651C>T)
c.*210G>A (n.*210G>A)
c.1385G>A (p.Gly462Glu)
c.276+16651C>T (n.276+16651C>T)
c.*220+5893G>A (n.*220+5893G>A)
c.509G>A (p.Gly170Glu)
c.536G>A (p.Gly179Glu)
c.1391G>A (p.Gly464Glu)
c.1205G>A (p.Gly402Glu)
c.1124G>A (p.Gly375Glu)
c.830G>A (p.Gly277Glu)
c.1211G>A (p.Gly404Glu)
 dbSNP
2g.48688331_48688332insTCA1248601088GTF2A1L,LHCGR,STON1-GTF2A1Lc.1465_1466insA (p.Gly489GlufsTer?)
c.948-193_948-192insA (n.948-193_948-192insA)
c.3441+16651_3441+16652insT (n.3441+16651_3441+16652insT)
c.*209_*210insA (n.*209_*210insA)
c.1384_1385insA (p.Gly462GlufsTer?)
c.276+16651_276+16652insT (n.276+16651_276+16652insT)
c.*220+5892_*220+5893insA (n.*220+5892_*220+5893insA)
c.508_509insA (p.Gly170GlufsTer?)
c.535_536insA (p.Gly179GlufsTer?)
c.1390_1391insA (p.Gly464GlufsTer?)
c.1204_1205insA (p.Gly402GlufsTer?)
c.1123_1124insA (p.Gly375GlufsTer?)
c.829_830insA (p.Gly277GlufsTer?)
c.1210_1211insA (p.Gly404GlufsTer?)
 dbSNP
2g.48688332C>ACA346746837GTF2A1L,LHCGR,STON1-GTF2A1Lc.1465G>T (p.Gly489Ter)
c.948-193G>T (n.948-193G>T)
c.3441+16652C>A (n.3441+16652C>A)
c.*209G>T (n.*209G>T)
c.1384G>T (p.Gly462Ter)
c.276+16652C>A (n.276+16652C>A)
c.*220+5892G>T (n.*220+5892G>T)
c.508G>T (p.Gly170Ter)
c.535G>T (p.Gly179Ter)
c.1390G>T (p.Gly464Ter)
c.1204G>T (p.Gly402Ter)
c.1123G>T (p.Gly375Ter)
c.829G>T (p.Gly277Ter)
c.1210G>T (p.Gly404Ter)
 dbSNP
2g.48688332C=CA1248601087GTF2A1L,LHCGR,STON1-GTF2A1Lc.1465G= (p.Gly489=)
c.948-193G= (n.948-193G=)
c.3441+16652C= (n.3441+16652C=)
c.*209G= (n.*209G=)
c.1384G= (p.Gly462=)
c.276+16652C= (n.276+16652C=)
c.*220+5892G= (n.*220+5892G=)
c.508G= (p.Gly170=)
c.535G= (p.Gly179=)
c.1390G= (p.Gly464=)
c.1204G= (p.Gly402=)
c.1123G= (p.Gly375=)
c.829G= (p.Gly277=)
c.1210G= (p.Gly404=)
2g.48688332C>GCA346746839GTF2A1L,LHCGR,STON1-GTF2A1Lc.1465G>C (p.Gly489Arg)
c.948-193G>C (n.948-193G>C)
c.3441+16652C>G (n.3441+16652C>G)
c.*209G>C (n.*209G>C)
c.1384G>C (p.Gly462Arg)
c.276+16652C>G (n.276+16652C>G)
c.*220+5892G>C (n.*220+5892G>C)
c.508G>C (p.Gly170Arg)
c.535G>C (p.Gly179Arg)
c.1390G>C (p.Gly464Arg)
c.1204G>C (p.Gly402Arg)
c.1123G>C (p.Gly375Arg)
c.829G>C (p.Gly277Arg)
c.1210G>C (p.Gly404Arg)
2g.48688332C>TCA346746842GTF2A1L,LHCGR,STON1-GTF2A1Lc.1465G>A (p.Gly489Arg)
c.948-193G>A (n.948-193G>A)
c.3441+16652C>T (n.3441+16652C>T)
c.*209G>A (n.*209G>A)
c.1384G>A (p.Gly462Arg)
c.276+16652C>T (n.276+16652C>T)
c.*220+5892G>A (n.*220+5892G>A)
c.508G>A (p.Gly170Arg)
c.535G>A (p.Gly179Arg)
c.1390G>A (p.Gly464Arg)
c.1204G>A (p.Gly402Arg)
c.1123G>A (p.Gly375Arg)
c.829G>A (p.Gly277Arg)
c.1210G>A (p.Gly404Arg)
 COSMIC
2g.48688333A>CCA426125046GTF2A1L,LHCGR,STON1-GTF2A1Lc.1464T>G (p.Leu488=)
c.948-194T>G (n.948-194T>G)
c.3441+16653A>C (n.3441+16653A>C)
c.*208T>G (n.*208T>G)
c.1383T>G (p.Leu461=)
c.276+16653A>C (n.276+16653A>C)
c.*220+5891T>G (n.*220+5891T>G)
c.507T>G (p.Leu169=)
c.534T>G (p.Leu178=)
c.1389T>G (p.Leu463=)
c.1203T>G (p.Leu401=)
c.1122T>G (p.Leu374=)
c.828T>G (p.Leu276=)
c.1209T>G (p.Leu403=)
2g.48688333A>GCA426125047GTF2A1L,LHCGR,STON1-GTF2A1Lc.1464T>C (p.Leu488=)
c.948-194T>C (n.948-194T>C)
c.3441+16653A>G (n.3441+16653A>G)
c.*208T>C (n.*208T>C)
c.1383T>C (p.Leu461=)
c.276+16653A>G (n.276+16653A>G)
c.*220+5891T>C (n.*220+5891T>C)
c.507T>C (p.Leu169=)
c.534T>C (p.Leu178=)
c.1389T>C (p.Leu463=)
c.1203T>C (p.Leu401=)
c.1122T>C (p.Leu374=)
c.828T>C (p.Leu276=)
c.1209T>C (p.Leu403=)
2g.48688333A>TCA426125048GTF2A1L,LHCGR,STON1-GTF2A1Lc.1464T>A (p.Leu488=)
c.948-194T>A (n.948-194T>A)
c.3441+16653A>T (n.3441+16653A>T)
c.*208T>A (n.*208T>A)
c.1383T>A (p.Leu461=)
c.276+16653A>T (n.276+16653A>T)
c.*220+5891T>A (n.*220+5891T>A)
c.507T>A (p.Leu169=)
c.534T>A (p.Leu178=)
c.1389T>A (p.Leu463=)
c.1203T>A (p.Leu401=)
c.1122T>A (p.Leu374=)
c.828T>A (p.Leu276=)
c.1209T>A (p.Leu403=)
2g.48688334A=CA1248601089GTF2A1L,LHCGR,STON1-GTF2A1Lc.1463T= (p.Leu488=)
c.948-195T= (n.948-195T=)
c.3441+16654A= (n.3441+16654A=)
c.*207T= (n.*207T=)
c.1382T= (p.Leu461=)
c.276+16654A= (n.276+16654A=)
c.*220+5890T= (n.*220+5890T=)
c.506T= (p.Leu169=)
c.533T= (p.Leu178=)
c.1388T= (p.Leu463=)
c.1202T= (p.Leu401=)
c.1121T= (p.Leu374=)
c.827T= (p.Leu276=)
c.1208T= (p.Leu403=)
2g.48688334A>CCA346746847GTF2A1L,LHCGR,STON1-GTF2A1Lc.1463T>G (p.Leu488Arg)
c.948-195T>G (n.948-195T>G)
c.3441+16654A>C (n.3441+16654A>C)
c.*207T>G (n.*207T>G)
c.1382T>G (p.Leu461Arg)
c.276+16654A>C (n.276+16654A>C)
c.*220+5890T>G (n.*220+5890T>G)
c.506T>G (p.Leu169Arg)
c.533T>G (p.Leu178Arg)
c.1388T>G (p.Leu463Arg)
c.1202T>G (p.Leu401Arg)
c.1121T>G (p.Leu374Arg)
c.827T>G (p.Leu276Arg)
c.1208T>G (p.Leu403Arg)
2g.48688334A>GCA346746848GTF2A1L,LHCGR,STON1-GTF2A1Lc.1463T>C (p.Leu488Pro)
c.948-195T>C (n.948-195T>C)
c.3441+16654A>G (n.3441+16654A>G)
c.*207T>C (n.*207T>C)
c.1382T>C (p.Leu461Pro)
c.276+16654A>G (n.276+16654A>G)
c.*220+5890T>C (n.*220+5890T>C)
c.506T>C (p.Leu169Pro)
c.533T>C (p.Leu178Pro)
c.1388T>C (p.Leu463Pro)
c.1202T>C (p.Leu401Pro)
c.1121T>C (p.Leu374Pro)
c.827T>C (p.Leu276Pro)
c.1208T>C (p.Leu403Pro)
 dbSNP gnomAD v2
2g.48688334A>TCA346746849GTF2A1L,LHCGR,STON1-GTF2A1Lc.1463T>A (p.Leu488His)
c.948-195T>A (n.948-195T>A)
c.3441+16654A>T (n.3441+16654A>T)
c.*207T>A (n.*207T>A)
c.1382T>A (p.Leu461His)
c.276+16654A>T (n.276+16654A>T)
c.*220+5890T>A (n.*220+5890T>A)
c.506T>A (p.Leu169His)
c.533T>A (p.Leu178His)
c.1388T>A (p.Leu463His)
c.1202T>A (p.Leu401His)
c.1121T>A (p.Leu374His)
c.827T>A (p.Leu276His)
c.1208T>A (p.Leu403His)
2g.48688334_48688348delinsAGCATAATCAGAATGCA1248601090GTF2A1L,LHCGR,STON1-GTF2A1Lc.1449_1463delinsCATTCTGATTATGCT (p.Ala483=)
c.948-209_948-195delinsCATTCTGATTATGCT (n.948-209_948-195delinsCATTCTGATTATGCT)
c.3441+16654_3441+16668delinsAGCATAATCAGAATG (n.3441+16654_3441+16668delinsAGCATAATCAGAATG)
c.*193_*207delinsCATTCTGATTATGCT (n.*193_*207delinsCATTCTGATTATGCT)
c.1368_1382delinsCATTCTGATTATGCT (p.Ala456=)
c.276+16654_276+16668delinsAGCATAATCAGAATG (n.276+16654_276+16668delinsAGCATAATCAGAATG)
c.*220+5876_*220+5890delinsCATTCTGATTATGCT (n.*220+5876_*220+5890delinsCATTCTGATTATGCT)
c.492_506delinsCATTCTGATTATGCT (p.Ala164=)
c.519_533delinsCATTCTGATTATGCT (p.Ala173=)
c.1374_1388delinsCATTCTGATTATGCT (p.Ala458=)
c.1188_1202delinsCATTCTGATTATGCT (p.Ala396=)
c.1107_1121delinsCATTCTGATTATGCT (p.Ala369=)
c.813_827delinsCATTCTGATTATGCT (p.Ala271=)
c.1194_1208delinsCATTCTGATTATGCT (p.Ala398=)
2g.48688334_48688335insTCA1248601091GTF2A1L,LHCGR,STON1-GTF2A1Lc.1462_1463insA (p.Leu488HisfsTer?)
c.948-196_948-195insA (n.948-196_948-195insA)
c.3441+16654_3441+16655insT (n.3441+16654_3441+16655insT)
c.*206_*207insA (n.*206_*207insA)
c.1381_1382insA (p.Leu461HisfsTer?)
c.276+16654_276+16655insT (n.276+16654_276+16655insT)
c.*220+5889_*220+5890insA (n.*220+5889_*220+5890insA)
c.505_506insA (p.Leu169HisfsTer?)
c.532_533insA (p.Leu178HisfsTer?)
c.1387_1388insA (p.Leu463HisfsTer?)
c.1201_1202insA (p.Leu401HisfsTer?)
c.1120_1121insA (p.Leu374HisfsTer?)
c.826_827insA (p.Leu276HisfsTer?)
c.1207_1208insA (p.Leu403HisfsTer?)
 dbSNP
2g.48688335G>ACA346746851GTF2A1L,LHCGR,STON1-GTF2A1Lc.1462C>T (p.Leu488Phe)
c.948-196C>T (n.948-196C>T)
c.3441+16655G>A (n.3441+16655G>A)
c.*206C>T (n.*206C>T)
c.1381C>T (p.Leu461Phe)
c.276+16655G>A (n.276+16655G>A)
c.*220+5889C>T (n.*220+5889C>T)
c.505C>T (p.Leu169Phe)
c.532C>T (p.Leu178Phe)
c.1387C>T (p.Leu463Phe)
c.1201C>T (p.Leu401Phe)
c.1120C>T (p.Leu374Phe)
c.826C>T (p.Leu276Phe)
c.1207C>T (p.Leu403Phe)
 gnomAD v4
2g.48688335G>CCA346746854GTF2A1L,LHCGR,STON1-GTF2A1Lc.1462C>G (p.Leu488Val)
c.948-196C>G (n.948-196C>G)
c.3441+16655G>C (n.3441+16655G>C)
c.*206C>G (n.*206C>G)
c.1381C>G (p.Leu461Val)
c.276+16655G>C (n.276+16655G>C)
c.*220+5889C>G (n.*220+5889C>G)
c.505C>G (p.Leu169Val)
c.532C>G (p.Leu178Val)
c.1387C>G (p.Leu463Val)
c.1201C>G (p.Leu401Val)
c.1120C>G (p.Leu374Val)
c.826C>G (p.Leu276Val)
c.1207C>G (p.Leu403Val)
2g.48688335G>TCA346746855GTF2A1L,LHCGR,STON1-GTF2A1Lc.1462C>A (p.Leu488Ile)
c.948-196C>A (n.948-196C>A)
c.3441+16655G>T (n.3441+16655G>T)
c.*206C>A (n.*206C>A)
c.1381C>A (p.Leu461Ile)
c.276+16655G>T (n.276+16655G>T)
c.*220+5889C>A (n.*220+5889C>A)
c.505C>A (p.Leu169Ile)
c.532C>A (p.Leu178Ile)
c.1387C>A (p.Leu463Ile)
c.1201C>A (p.Leu401Ile)
c.1120C>A (p.Leu374Ile)
c.826C>A (p.Leu276Ile)
c.1207C>A (p.Leu403Ile)
2g.48688339_48688352delCA1248601092GTF2A1L,LHCGR,STON1-GTF2A1Lc.1449_1462del (p.Ile484TrpfsTer?)
c.948-209_948-196del (n.948-209_948-196del)
c.3441+16659_3441+16672del (n.3441+16659_3441+16672del)
c.*193_*206del (n.*193_*206del)
c.1368_1381del (p.Ile457TrpfsTer?)
c.276+16659_276+16672del (n.276+16659_276+16672del)
c.*220+5876_*220+5889del (n.*220+5876_*220+5889del)
c.492_505del (p.Ile165TrpfsTer?)
c.519_532del (p.Ile174TrpfsTer?)
c.1374_1387del (p.Ile459TrpfsTer?)
c.1188_1201del (p.Ile397TrpfsTer?)
c.1107_1120del (p.Ile370TrpfsTer?)
c.813_826del (p.Ile272TrpfsTer?)
c.1194_1207del (p.Ile399TrpfsTer?)
 dbSNP
2g.48688336C>ACA346746859GTF2A1L,LHCGR,STON1-GTF2A1Lc.1461G>T (p.Met487Ile)
c.948-197G>T (n.948-197G>T)
c.3441+16656C>A (n.3441+16656C>A)
c.*205G>T (n.*205G>T)
c.1380G>T (p.Met460Ile)
c.276+16656C>A (n.276+16656C>A)
c.*220+5888G>T (n.*220+5888G>T)
c.504G>T (p.Met168Ile)
c.531G>T (p.Met177Ile)
c.1386G>T (p.Met462Ile)
c.1200G>T (p.Met400Ile)
c.1119G>T (p.Met373Ile)
c.825G>T (p.Met275Ile)
c.1206G>T (p.Met402Ile)
2g.48688336C>GCA346746861GTF2A1L,LHCGR,STON1-GTF2A1Lc.1461G>C (p.Met487Ile)
c.948-197G>C (n.948-197G>C)
c.3441+16656C>G (n.3441+16656C>G)
c.*205G>C (n.*205G>C)
c.1380G>C (p.Met460Ile)
c.276+16656C>G (n.276+16656C>G)
c.*220+5888G>C (n.*220+5888G>C)
c.504G>C (p.Met168Ile)
c.531G>C (p.Met177Ile)
c.1386G>C (p.Met462Ile)
c.1200G>C (p.Met400Ile)
c.1119G>C (p.Met373Ile)
c.825G>C (p.Met275Ile)
c.1206G>C (p.Met402Ile)
2g.48688336C>TCA346746864GTF2A1L,LHCGR,STON1-GTF2A1Lc.1461G>A (p.Met487Ile)
c.948-197G>A (n.948-197G>A)
c.3441+16656C>T (n.3441+16656C>T)
c.*205G>A (n.*205G>A)
c.1380G>A (p.Met460Ile)
c.276+16656C>T (n.276+16656C>T)
c.*220+5888G>A (n.*220+5888G>A)
c.504G>A (p.Met168Ile)
c.531G>A (p.Met177Ile)
c.1386G>A (p.Met462Ile)
c.1200G>A (p.Met400Ile)
c.1119G>A (p.Met373Ile)
c.825G>A (p.Met275Ile)
c.1206G>A (p.Met402Ile)
2g.48688337A>CCA346746873GTF2A1L,LHCGR,STON1-GTF2A1Lc.1460T>G (p.Met487Arg)
c.948-198T>G (n.948-198T>G)
c.3441+16657A>C (n.3441+16657A>C)
c.*204T>G (n.*204T>G)
c.1379T>G (p.Met460Arg)
c.276+16657A>C (n.276+16657A>C)
c.*220+5887T>G (n.*220+5887T>G)
c.503T>G (p.Met168Arg)
c.530T>G (p.Met177Arg)
c.1385T>G (p.Met462Arg)
c.1199T>G (p.Met400Arg)
c.1118T>G (p.Met373Arg)
c.824T>G (p.Met275Arg)
c.1205T>G (p.Met402Arg)
2g.48688337A>GCA346746871GTF2A1L,LHCGR,STON1-GTF2A1Lc.1460T>C (p.Met487Thr)
c.948-198T>C (n.948-198T>C)
c.3441+16657A>G (n.3441+16657A>G)
c.*204T>C (n.*204T>C)
c.1379T>C (p.Met460Thr)
c.276+16657A>G (n.276+16657A>G)
c.*220+5887T>C (n.*220+5887T>C)
c.503T>C (p.Met168Thr)
c.530T>C (p.Met177Thr)
c.1385T>C (p.Met462Thr)
c.1199T>C (p.Met400Thr)
c.1118T>C (p.Met373Thr)
c.824T>C (p.Met275Thr)
c.1205T>C (p.Met402Thr)
2g.48688337A>TCA346746867GTF2A1L,LHCGR,STON1-GTF2A1Lc.1460T>A (p.Met487Lys)
c.948-198T>A (n.948-198T>A)
c.3441+16657A>T (n.3441+16657A>T)
c.*204T>A (n.*204T>A)
c.1379T>A (p.Met460Lys)
c.276+16657A>T (n.276+16657A>T)
c.*220+5887T>A (n.*220+5887T>A)
c.503T>A (p.Met168Lys)
c.530T>A (p.Met177Lys)
c.1385T>A (p.Met462Lys)
c.1199T>A (p.Met400Lys)
c.1118T>A (p.Met373Lys)
c.824T>A (p.Met275Lys)
c.1205T>A (p.Met402Lys)
2g.48688338T>ACA346746875GTF2A1L,LHCGR,STON1-GTF2A1Lc.1459A>T (p.Met487Leu)
c.948-199A>T (n.948-199A>T)
c.3441+16658T>A (n.3441+16658T>A)
c.*203A>T (n.*203A>T)
c.1378A>T (p.Met460Leu)
c.276+16658T>A (n.276+16658T>A)
c.*220+5886A>T (n.*220+5886A>T)
c.502A>T (p.Met168Leu)
c.529A>T (p.Met177Leu)
c.1384A>T (p.Met462Leu)
c.1198A>T (p.Met400Leu)
c.1117A>T (p.Met373Leu)
c.823A>T (p.Met275Leu)
c.1204A>T (p.Met402Leu)
2g.48688338T>CCA346746878GTF2A1L,LHCGR,STON1-GTF2A1Lc.1459A>G (p.Met487Val)
c.948-199A>G (n.948-199A>G)
c.3441+16658T>C (n.3441+16658T>C)
c.*203A>G (n.*203A>G)
c.1378A>G (p.Met460Val)
c.276+16658T>C (n.276+16658T>C)
c.*220+5886A>G (n.*220+5886A>G)
c.502A>G (p.Met168Val)
c.529A>G (p.Met177Val)
c.1384A>G (p.Met462Val)
c.1198A>G (p.Met400Val)
c.1117A>G (p.Met373Val)
c.823A>G (p.Met275Val)
c.1204A>G (p.Met402Val)
2g.48688338T>GCA346746876GTF2A1L,LHCGR,STON1-GTF2A1Lc.1459A>C (p.Met487Leu)
c.948-199A>C (n.948-199A>C)
c.3441+16658T>G (n.3441+16658T>G)
c.*203A>C (n.*203A>C)
c.1378A>C (p.Met460Leu)
c.276+16658T>G (n.276+16658T>G)
c.*220+5886A>C (n.*220+5886A>C)
c.502A>C (p.Met168Leu)
c.529A>C (p.Met177Leu)
c.1384A>C (p.Met462Leu)
c.1198A>C (p.Met400Leu)
c.1117A>C (p.Met373Leu)
c.823A>C (p.Met275Leu)
c.1204A>C (p.Met402Leu)
2g.48688339A=CA1248601093GTF2A1L,LHCGR,STON1-GTF2A1Lc.1458T= (p.Ile486=)
c.948-200T= (n.948-200T=)
c.3441+16659A= (n.3441+16659A=)
c.*202T= (n.*202T=)
c.1377T= (p.Ile459=)
c.276+16659A= (n.276+16659A=)
c.*220+5885T= (n.*220+5885T=)
c.501T= (p.Ile167=)
c.528T= (p.Ile176=)
c.1383T= (p.Ile461=)
c.1197T= (p.Ile399=)
c.1116T= (p.Ile372=)
c.822T= (p.Ile274=)
c.1203T= (p.Ile401=)
2g.48688339A>CCA46752962GTF2A1L,LHCGR,STON1-GTF2A1Lc.1458T>G (p.Ile486Met)
c.948-200T>G (n.948-200T>G)
c.3441+16659A>C (n.3441+16659A>C)
c.*202T>G (n.*202T>G)
c.1377T>G (p.Ile459Met)
c.276+16659A>C (n.276+16659A>C)
c.*220+5885T>G (n.*220+5885T>G)
c.501T>G (p.Ile167Met)
c.528T>G (p.Ile176Met)
c.1383T>G (p.Ile461Met)
c.1197T>G (p.Ile399Met)
c.1116T>G (p.Ile372Met)
c.822T>G (p.Ile274Met)
c.1203T>G (p.Ile401Met)
 dbSNP
2g.48688339A>GCA426125050GTF2A1L,LHCGR,STON1-GTF2A1Lc.1458T>C (p.Ile486=)
c.948-200T>C (n.948-200T>C)
c.3441+16659A>G (n.3441+16659A>G)
c.*202T>C (n.*202T>C)
c.1377T>C (p.Ile459=)
c.276+16659A>G (n.276+16659A>G)
c.*220+5885T>C (n.*220+5885T>C)
c.501T>C (p.Ile167=)
c.528T>C (p.Ile176=)
c.1383T>C (p.Ile461=)
c.1197T>C (p.Ile399=)
c.1116T>C (p.Ile372=)
c.822T>C (p.Ile274=)
c.1203T>C (p.Ile401=)
2g.48688339A>TCA426125052GTF2A1L,LHCGR,STON1-GTF2A1Lc.1458T>A (p.Ile486=)
c.948-200T>A (n.948-200T>A)
c.3441+16659A>T (n.3441+16659A>T)
c.*202T>A (n.*202T>A)
c.1377T>A (p.Ile459=)
c.276+16659A>T (n.276+16659A>T)
c.*220+5885T>A (n.*220+5885T>A)
c.501T>A (p.Ile167=)
c.528T>A (p.Ile176=)
c.1383T>A (p.Ile461=)
c.1197T>A (p.Ile399=)
c.1116T>A (p.Ile372=)
c.822T>A (p.Ile274=)
c.1203T>A (p.Ile401=)
2g.48688339_48688340insCCCCA2749836837GTF2A1L,LHCGR,STON1-GTF2A1Lc.1457_1458insGGG (p.Ile486delinsMetGly)
c.948-201_948-200insGGG (n.948-201_948-200insGGG)
c.3441+16659_3441+16660insCCC (n.3441+16659_3441+16660insCCC)
c.*201_*202insGGG (n.*201_*202insGGG)
c.1376_1377insGGG (p.Ile459delinsMetGly)
c.276+16659_276+16660insCCC (n.276+16659_276+16660insCCC)
c.*220+5884_*220+5885insGGG (n.*220+5884_*220+5885insGGG)
c.500_501insGGG (p.Ile167delinsMetGly)
c.527_528insGGG (p.Ile176delinsMetGly)
c.1382_1383insGGG (p.Ile461delinsMetGly)
c.1196_1197insGGG (p.Ile399delinsMetGly)
c.1115_1116insGGG (p.Ile372delinsMetGly)
c.821_822insGGG (p.Ile274delinsMetGly)
c.1202_1203insGGG (p.Ile401delinsMetGly)
2g.48688340A>CCA346746883GTF2A1L,LHCGR,STON1-GTF2A1Lc.1457T>G (p.Ile486Ser)
c.948-201T>G (n.948-201T>G)
c.3441+16660A>C (n.3441+16660A>C)
c.*201T>G (n.*201T>G)
c.1376T>G (p.Ile459Ser)
c.276+16660A>C (n.276+16660A>C)
c.*220+5884T>G (n.*220+5884T>G)
c.500T>G (p.Ile167Ser)
c.527T>G (p.Ile176Ser)
c.1382T>G (p.Ile461Ser)
c.1196T>G (p.Ile399Ser)
c.1115T>G (p.Ile372Ser)
c.821T>G (p.Ile274Ser)
c.1202T>G (p.Ile401Ser)
2g.48688340A>GCA346746881GTF2A1L,LHCGR,STON1-GTF2A1Lc.1457T>C (p.Ile486Thr)
c.948-201T>C (n.948-201T>C)
c.3441+16660A>G (n.3441+16660A>G)
c.*201T>C (n.*201T>C)
c.1376T>C (p.Ile459Thr)
c.276+16660A>G (n.276+16660A>G)
c.*220+5884T>C (n.*220+5884T>C)
c.500T>C (p.Ile167Thr)
c.527T>C (p.Ile176Thr)
c.1382T>C (p.Ile461Thr)
c.1196T>C (p.Ile399Thr)
c.1115T>C (p.Ile372Thr)
c.821T>C (p.Ile274Thr)
c.1202T>C (p.Ile401Thr)
2g.48688340A>TCA346746882GTF2A1L,LHCGR,STON1-GTF2A1Lc.1457T>A (p.Ile486Asn)
c.948-201T>A (n.948-201T>A)
c.3441+16660A>T (n.3441+16660A>T)
c.*201T>A (n.*201T>A)
c.1376T>A (p.Ile459Asn)
c.276+16660A>T (n.276+16660A>T)
c.*220+5884T>A (n.*220+5884T>A)
c.500T>A (p.Ile167Asn)
c.527T>A (p.Ile176Asn)
c.1382T>A (p.Ile461Asn)
c.1196T>A (p.Ile399Asn)
c.1115T>A (p.Ile372Asn)
c.821T>A (p.Ile274Asn)
c.1202T>A (p.Ile401Asn)
2g.48688341T>ACA346746885GTF2A1L,LHCGR,STON1-GTF2A1Lc.1456A>T (p.Ile486Phe)
c.948-202A>T (n.948-202A>T)
c.3441+16661T>A (n.3441+16661T>A)
c.*200A>T (n.*200A>T)
c.1375A>T (p.Ile459Phe)
c.276+16661T>A (n.276+16661T>A)
c.*220+5883A>T (n.*220+5883A>T)
c.499A>T (p.Ile167Phe)
c.526A>T (p.Ile176Phe)
c.1381A>T (p.Ile461Phe)
c.1195A>T (p.Ile399Phe)
c.1114A>T (p.Ile372Phe)
c.820A>T (p.Ile274Phe)
c.1201A>T (p.Ile401Phe)
2g.48688341T>CCA346746886GTF2A1L,LHCGR,STON1-GTF2A1Lc.1456A>G (p.Ile486Val)
c.948-202A>G (n.948-202A>G)
c.3441+16661T>C (n.3441+16661T>C)
c.*200A>G (n.*200A>G)
c.1375A>G (p.Ile459Val)
c.276+16661T>C (n.276+16661T>C)
c.*220+5883A>G (n.*220+5883A>G)
c.499A>G (p.Ile167Val)
c.526A>G (p.Ile176Val)
c.1381A>G (p.Ile461Val)
c.1195A>G (p.Ile399Val)
c.1114A>G (p.Ile372Val)
c.820A>G (p.Ile274Val)
c.1201A>G (p.Ile401Val)
2g.48688341T>GCA346746887GTF2A1L,LHCGR,STON1-GTF2A1Lc.1456A>C (p.Ile486Leu)
c.948-202A>C (n.948-202A>C)
c.3441+16661T>G (n.3441+16661T>G)
c.*200A>C (n.*200A>C)
c.1375A>C (p.Ile459Leu)
c.276+16661T>G (n.276+16661T>G)
c.*220+5883A>C (n.*220+5883A>C)
c.499A>C (p.Ile167Leu)
c.526A>C (p.Ile176Leu)
c.1381A>C (p.Ile461Leu)
c.1195A>C (p.Ile399Leu)
c.1114A>C (p.Ile372Leu)
c.820A>C (p.Ile274Leu)
c.1201A>C (p.Ile401Leu)
2g.48688342C>ACA426125059GTF2A1L,LHCGR,STON1-GTF2A1Lc.1455G>T (p.Leu485=)
c.948-203G>T (n.948-203G>T)
c.3441+16662C>A (n.3441+16662C>A)
c.*199G>T (n.*199G>T)
c.1374G>T (p.Leu458=)
c.276+16662C>A (n.276+16662C>A)
c.*220+5882G>T (n.*220+5882G>T)
c.498G>T (p.Leu166=)
c.525G>T (p.Leu175=)
c.1380G>T (p.Leu460=)
c.1194G>T (p.Leu398=)
c.1113G>T (p.Leu371=)
c.819G>T (p.Leu273=)
c.1200G>T (p.Leu400=)
 COSMIC
2g.48688342C>GCA426125060GTF2A1L,LHCGR,STON1-GTF2A1Lc.1455G>C (p.Leu485=)
c.948-203G>C (n.948-203G>C)
c.3441+16662C>G (n.3441+16662C>G)
c.*199G>C (n.*199G>C)
c.1374G>C (p.Leu458=)
c.276+16662C>G (n.276+16662C>G)
c.*220+5882G>C (n.*220+5882G>C)
c.498G>C (p.Leu166=)
c.525G>C (p.Leu175=)
c.1380G>C (p.Leu460=)
c.1194G>C (p.Leu398=)
c.1113G>C (p.Leu371=)
c.819G>C (p.Leu273=)
c.1200G>C (p.Leu400=)
2g.48688342C>TCA426125061GTF2A1L,LHCGR,STON1-GTF2A1Lc.1455G>A (p.Leu485=)
c.948-203G>A (n.948-203G>A)
c.3441+16662C>T (n.3441+16662C>T)
c.*199G>A (n.*199G>A)
c.1374G>A (p.Leu458=)
c.276+16662C>T (n.276+16662C>T)
c.*220+5882G>A (n.*220+5882G>A)
c.498G>A (p.Leu166=)
c.525G>A (p.Leu175=)
c.1380G>A (p.Leu460=)
c.1194G>A (p.Leu398=)
c.1113G>A (p.Leu371=)
c.819G>A (p.Leu273=)
c.1200G>A (p.Leu400=)
2g.48688343A=CA1248601094GTF2A1L,LHCGR,STON1-GTF2A1Lc.1454T= (p.Leu485=)
c.948-204T= (n.948-204T=)
c.3441+16663A= (n.3441+16663A=)
c.*198T= (n.*198T=)
c.1373T= (p.Leu458=)
c.276+16663A= (n.276+16663A=)
c.*220+5881T= (n.*220+5881T=)
c.497T= (p.Leu166=)
c.524T= (p.Leu175=)
c.1379T= (p.Leu460=)
c.1193T= (p.Leu398=)
c.1112T= (p.Leu371=)
c.818T= (p.Leu273=)
c.1199T= (p.Leu400=)
2g.48688343A>CCA346746890GTF2A1L,LHCGR,STON1-GTF2A1Lc.1454T>G (p.Leu485Arg)
c.948-204T>G (n.948-204T>G)
c.3441+16663A>C (n.3441+16663A>C)
c.*198T>G (n.*198T>G)
c.1373T>G (p.Leu458Arg)
c.276+16663A>C (n.276+16663A>C)
c.*220+5881T>G (n.*220+5881T>G)
c.497T>G (p.Leu166Arg)
c.524T>G (p.Leu175Arg)
c.1379T>G (p.Leu460Arg)
c.1193T>G (p.Leu398Arg)
c.1112T>G (p.Leu371Arg)
c.818T>G (p.Leu273Arg)
c.1199T>G (p.Leu400Arg)
2g.48688343A>GCA346746891GTF2A1L,LHCGR,STON1-GTF2A1Lc.1454T>C (p.Leu485Pro)
c.948-204T>C (n.948-204T>C)
c.3441+16663A>G (n.3441+16663A>G)
c.*198T>C (n.*198T>C)
c.1373T>C (p.Leu458Pro)
c.276+16663A>G (n.276+16663A>G)
c.*220+5881T>C (n.*220+5881T>C)
c.497T>C (p.Leu166Pro)
c.524T>C (p.Leu175Pro)
c.1379T>C (p.Leu460Pro)
c.1193T>C (p.Leu398Pro)
c.1112T>C (p.Leu371Pro)
c.818T>C (p.Leu273Pro)
c.1199T>C (p.Leu400Pro)
 dbSNP gnomAD v2 gnomAD v4
2g.48688343A>TCA346746892GTF2A1L,LHCGR,STON1-GTF2A1Lc.1454T>A (p.Leu485Gln)
c.948-204T>A (n.948-204T>A)
c.3441+16663A>T (n.3441+16663A>T)
c.*198T>A (n.*198T>A)
c.1373T>A (p.Leu458Gln)
c.276+16663A>T (n.276+16663A>T)
c.*220+5881T>A (n.*220+5881T>A)
c.497T>A (p.Leu166Gln)
c.524T>A (p.Leu175Gln)
c.1379T>A (p.Leu460Gln)
c.1193T>A (p.Leu398Gln)
c.1112T>A (p.Leu371Gln)
c.818T>A (p.Leu273Gln)
c.1199T>A (p.Leu400Gln)
2g.48688344G>ACA426125062GTF2A1L,LHCGR,STON1-GTF2A1Lc.1453C>T (p.Leu485=)
c.948-205C>T (n.948-205C>T)
c.3441+16664G>A (n.3441+16664G>A)
c.*197C>T (n.*197C>T)
c.1372C>T (p.Leu458=)
c.276+16664G>A (n.276+16664G>A)
c.*220+5880C>T (n.*220+5880C>T)
c.496C>T (p.Leu166=)
c.523C>T (p.Leu175=)
c.1378C>T (p.Leu460=)
c.1192C>T (p.Leu398=)
c.1111C>T (p.Leu371=)
c.817C>T (p.Leu273=)
c.1198C>T (p.Leu400=)
2g.48688344G>CCA346746894GTF2A1L,LHCGR,STON1-GTF2A1Lc.1453C>G (p.Leu485Val)
c.948-205C>G (n.948-205C>G)
c.3441+16664G>C (n.3441+16664G>C)
c.*197C>G (n.*197C>G)
c.1372C>G (p.Leu458Val)
c.276+16664G>C (n.276+16664G>C)
c.*220+5880C>G (n.*220+5880C>G)
c.496C>G (p.Leu166Val)
c.523C>G (p.Leu175Val)
c.1378C>G (p.Leu460Val)
c.1192C>G (p.Leu398Val)
c.1111C>G (p.Leu371Val)
c.817C>G (p.Leu273Val)
c.1198C>G (p.Leu400Val)
2g.48688344G=CA1248601095GTF2A1L,LHCGR,STON1-GTF2A1Lc.1453C= (p.Leu485=)
c.948-205C= (n.948-205C=)
c.3441+16664G= (n.3441+16664G=)
c.*197C= (n.*197C=)
c.1372C= (p.Leu458=)
c.276+16664G= (n.276+16664G=)
c.*220+5880C= (n.*220+5880C=)
c.496C= (p.Leu166=)
c.523C= (p.Leu175=)
c.1378C= (p.Leu460=)
c.1192C= (p.Leu398=)
c.1111C= (p.Leu371=)
c.817C= (p.Leu273=)
c.1198C= (p.Leu400=)
2g.48688344G>TCA1653024GTF2A1L,LHCGR,STON1-GTF2A1Lc.1453C>A (p.Leu485Met)
c.948-205C>A (n.948-205C>A)
c.3441+16664G>T (n.3441+16664G>T)
c.*197C>A (n.*197C>A)
c.1372C>A (p.Leu458Met)
c.276+16664G>T (n.276+16664G>T)
c.*220+5880C>A (n.*220+5880C>A)
c.496C>A (p.Leu166Met)
c.523C>A (p.Leu175Met)
c.1378C>A (p.Leu460Met)
c.1192C>A (p.Leu398Met)
c.1111C>A (p.Leu371Met)
c.817C>A (p.Leu273Met)
c.1198C>A (p.Leu400Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688345A>CCA346746897GTF2A1L,LHCGR,STON1-GTF2A1Lc.1452T>G (p.Ile484Met)
c.948-206T>G (n.948-206T>G)
c.3441+16665A>C (n.3441+16665A>C)
c.*196T>G (n.*196T>G)
c.1371T>G (p.Ile457Met)
c.276+16665A>C (n.276+16665A>C)
c.*220+5879T>G (n.*220+5879T>G)
c.495T>G (p.Ile165Met)
c.522T>G (p.Ile174Met)
c.1377T>G (p.Ile459Met)
c.1191T>G (p.Ile397Met)
c.1110T>G (p.Ile370Met)
c.816T>G (p.Ile272Met)
c.1197T>G (p.Ile399Met)
2g.48688345A>GCA426125065GTF2A1L,LHCGR,STON1-GTF2A1Lc.1452T>C (p.Ile484=)
c.948-206T>C (n.948-206T>C)
c.3441+16665A>G (n.3441+16665A>G)
c.*196T>C (n.*196T>C)
c.1371T>C (p.Ile457=)
c.276+16665A>G (n.276+16665A>G)
c.*220+5879T>C (n.*220+5879T>C)
c.495T>C (p.Ile165=)
c.522T>C (p.Ile174=)
c.1377T>C (p.Ile459=)
c.1191T>C (p.Ile397=)
c.1110T>C (p.Ile370=)
c.816T>C (p.Ile272=)
c.1197T>C (p.Ile399=)
 gnomAD v4
2g.48688345A>TCA426125064GTF2A1L,LHCGR,STON1-GTF2A1Lc.1452T>A (p.Ile484=)
c.948-206T>A (n.948-206T>A)
c.3441+16665A>T (n.3441+16665A>T)
c.*196T>A (n.*196T>A)
c.1371T>A (p.Ile457=)
c.276+16665A>T (n.276+16665A>T)
c.*220+5879T>A (n.*220+5879T>A)
c.495T>A (p.Ile165=)
c.522T>A (p.Ile174=)
c.1377T>A (p.Ile459=)
c.1191T>A (p.Ile397=)
c.1110T>A (p.Ile370=)
c.816T>A (p.Ile272=)
c.1197T>A (p.Ile399=)
2g.48688346A>CCA346746902GTF2A1L,LHCGR,STON1-GTF2A1Lc.1451T>G (p.Ile484Ser)
c.948-207T>G (n.948-207T>G)
c.3441+16666A>C (n.3441+16666A>C)
c.*195T>G (n.*195T>G)
c.1370T>G (p.Ile457Ser)
c.276+16666A>C (n.276+16666A>C)
c.*220+5878T>G (n.*220+5878T>G)
c.494T>G (p.Ile165Ser)
c.521T>G (p.Ile174Ser)
c.1376T>G (p.Ile459Ser)
c.1190T>G (p.Ile397Ser)
c.1109T>G (p.Ile370Ser)
c.815T>G (p.Ile272Ser)
c.1196T>G (p.Ile399Ser)
2g.48688346A>GCA346746899GTF2A1L,LHCGR,STON1-GTF2A1Lc.1451T>C (p.Ile484Thr)
c.948-207T>C (n.948-207T>C)
c.3441+16666A>G (n.3441+16666A>G)
c.*195T>C (n.*195T>C)
c.1370T>C (p.Ile457Thr)
c.276+16666A>G (n.276+16666A>G)
c.*220+5878T>C (n.*220+5878T>C)
c.494T>C (p.Ile165Thr)
c.521T>C (p.Ile174Thr)
c.1376T>C (p.Ile459Thr)
c.1190T>C (p.Ile397Thr)
c.1109T>C (p.Ile370Thr)
c.815T>C (p.Ile272Thr)
c.1196T>C (p.Ile399Thr)
 gnomAD v4
2g.48688346A>TCA346746900GTF2A1L,LHCGR,STON1-GTF2A1Lc.1451T>A (p.Ile484Asn)
c.948-207T>A (n.948-207T>A)
c.3441+16666A>T (n.3441+16666A>T)
c.*195T>A (n.*195T>A)
c.1370T>A (p.Ile457Asn)
c.276+16666A>T (n.276+16666A>T)
c.*220+5878T>A (n.*220+5878T>A)
c.494T>A (p.Ile165Asn)
c.521T>A (p.Ile174Asn)
c.1376T>A (p.Ile459Asn)
c.1190T>A (p.Ile397Asn)
c.1109T>A (p.Ile370Asn)
c.815T>A (p.Ile272Asn)
c.1196T>A (p.Ile399Asn)
2g.48688347T>ACA346746904GTF2A1L,LHCGR,STON1-GTF2A1Lc.1450A>T (p.Ile484Phe)
c.948-208A>T (n.948-208A>T)
c.3441+16667T>A (n.3441+16667T>A)
c.*194A>T (n.*194A>T)
c.1369A>T (p.Ile457Phe)
c.276+16667T>A (n.276+16667T>A)
c.*220+5877A>T (n.*220+5877A>T)
c.493A>T (p.Ile165Phe)
c.520A>T (p.Ile174Phe)
c.1375A>T (p.Ile459Phe)
c.1189A>T (p.Ile397Phe)
c.1108A>T (p.Ile370Phe)
c.814A>T (p.Ile272Phe)
c.1195A>T (p.Ile399Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48688347T>CCA346746905GTF2A1L,LHCGR,STON1-GTF2A1Lc.1450A>G (p.Ile484Val)
c.948-208A>G (n.948-208A>G)
c.3441+16667T>C (n.3441+16667T>C)
c.*194A>G (n.*194A>G)
c.1369A>G (p.Ile457Val)
c.276+16667T>C (n.276+16667T>C)
c.*220+5877A>G (n.*220+5877A>G)
c.493A>G (p.Ile165Val)
c.520A>G (p.Ile174Val)
c.1375A>G (p.Ile459Val)
c.1189A>G (p.Ile397Val)
c.1108A>G (p.Ile370Val)
c.814A>G (p.Ile272Val)
c.1195A>G (p.Ile399Val)
2g.48688347T>GCA1653025GTF2A1L,LHCGR,STON1-GTF2A1Lc.1450A>C (p.Ile484Leu)
c.948-208A>C (n.948-208A>C)
c.3441+16667T>G (n.3441+16667T>G)
c.*194A>C (n.*194A>C)
c.1369A>C (p.Ile457Leu)
c.276+16667T>G (n.276+16667T>G)
c.*220+5877A>C (n.*220+5877A>C)
c.493A>C (p.Ile165Leu)
c.520A>C (p.Ile174Leu)
c.1375A>C (p.Ile459Leu)
c.1189A>C (p.Ile397Leu)
c.1108A>C (p.Ile370Leu)
c.814A>C (p.Ile272Leu)
c.1195A>C (p.Ile399Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688347T=CA1248601096GTF2A1L,LHCGR,STON1-GTF2A1Lc.1450A= (p.Ile484=)
c.948-208A= (n.948-208A=)
c.3441+16667T= (n.3441+16667T=)
c.*194A= (n.*194A=)
c.1369A= (p.Ile457=)
c.276+16667T= (n.276+16667T=)
c.*220+5877A= (n.*220+5877A=)
c.493A= (p.Ile165=)
c.520A= (p.Ile174=)
c.1375A= (p.Ile459=)
c.1189A= (p.Ile397=)
c.1108A= (p.Ile370=)
c.814A= (p.Ile272=)
c.1195A= (p.Ile399=)
2g.48688348G>ACA426125069GTF2A1L,LHCGR,STON1-GTF2A1Lc.1449C>T (p.Ala483=)
c.948-209C>T (n.948-209C>T)
c.3441+16668G>A (n.3441+16668G>A)
c.*193C>T (n.*193C>T)
c.1368C>T (p.Ala456=)
c.276+16668G>A (n.276+16668G>A)
c.*220+5876C>T (n.*220+5876C>T)
c.492C>T (p.Ala164=)
c.519C>T (p.Ala173=)
c.1374C>T (p.Ala458=)
c.1188C>T (p.Ala396=)
c.1107C>T (p.Ala369=)
c.813C>T (p.Ala271=)
c.1194C>T (p.Ala398=)
2g.48688348G>CCA426125070GTF2A1L,LHCGR,STON1-GTF2A1Lc.1449C>G (p.Ala483=)
c.948-209C>G (n.948-209C>G)
c.3441+16668G>C (n.3441+16668G>C)
c.*193C>G (n.*193C>G)
c.1368C>G (p.Ala456=)
c.276+16668G>C (n.276+16668G>C)
c.*220+5876C>G (n.*220+5876C>G)
c.492C>G (p.Ala164=)
c.519C>G (p.Ala173=)
c.1374C>G (p.Ala458=)
c.1188C>G (p.Ala396=)
c.1107C>G (p.Ala369=)
c.813C>G (p.Ala271=)
c.1194C>G (p.Ala398=)
2g.48688348G>TCA426125071GTF2A1L,LHCGR,STON1-GTF2A1Lc.1449C>A (p.Ala483=)
c.948-209C>A (n.948-209C>A)
c.3441+16668G>T (n.3441+16668G>T)
c.*193C>A (n.*193C>A)
c.1368C>A (p.Ala456=)
c.276+16668G>T (n.276+16668G>T)
c.*220+5876C>A (n.*220+5876C>A)
c.492C>A (p.Ala164=)
c.519C>A (p.Ala173=)
c.1374C>A (p.Ala458=)
c.1188C>A (p.Ala396=)
c.1107C>A (p.Ala369=)
c.813C>A (p.Ala271=)
c.1194C>A (p.Ala398=)
2g.48688349G>ACA1653026GTF2A1L,LHCGR,STON1-GTF2A1Lc.1448C>T (p.Ala483Val)
c.948-210C>T (n.948-210C>T)
c.3441+16669G>A (n.3441+16669G>A)
c.*192C>T (n.*192C>T)
c.1367C>T (p.Ala456Val)
c.276+16669G>A (n.276+16669G>A)
c.*220+5875C>T (n.*220+5875C>T)
c.491C>T (p.Ala164Val)
c.518C>T (p.Ala173Val)
c.1373C>T (p.Ala458Val)
c.1187C>T (p.Ala396Val)
c.1106C>T (p.Ala369Val)
c.812C>T (p.Ala271Val)
c.1193C>T (p.Ala398Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688349G>CCA346746907GTF2A1L,LHCGR,STON1-GTF2A1Lc.1448C>G (p.Ala483Gly)
c.948-210C>G (n.948-210C>G)
c.3441+16669G>C (n.3441+16669G>C)
c.*192C>G (n.*192C>G)
c.1367C>G (p.Ala456Gly)
c.276+16669G>C (n.276+16669G>C)
c.*220+5875C>G (n.*220+5875C>G)
c.491C>G (p.Ala164Gly)
c.518C>G (p.Ala173Gly)
c.1373C>G (p.Ala458Gly)
c.1187C>G (p.Ala396Gly)
c.1106C>G (p.Ala369Gly)
c.812C>G (p.Ala271Gly)
c.1193C>G (p.Ala398Gly)
 dbSNP
2g.48688349G=CA1248601097GTF2A1L,LHCGR,STON1-GTF2A1Lc.1448C= (p.Ala483=)
c.948-210C= (n.948-210C=)
c.3441+16669G= (n.3441+16669G=)
c.*192C= (n.*192C=)
c.1367C= (p.Ala456=)
c.276+16669G= (n.276+16669G=)
c.*220+5875C= (n.*220+5875C=)
c.491C= (p.Ala164=)
c.518C= (p.Ala173=)
c.1373C= (p.Ala458=)
c.1187C= (p.Ala396=)
c.1106C= (p.Ala369=)
c.812C= (p.Ala271=)
c.1193C= (p.Ala398=)
2g.48688349G>TCA346746909GTF2A1L,LHCGR,STON1-GTF2A1Lc.1448C>A (p.Ala483Asp)
c.948-210C>A (n.948-210C>A)
c.3441+16669G>T (n.3441+16669G>T)
c.*192C>A (n.*192C>A)
c.1367C>A (p.Ala456Asp)
c.276+16669G>T (n.276+16669G>T)
c.*220+5875C>A (n.*220+5875C>A)
c.491C>A (p.Ala164Asp)
c.518C>A (p.Ala173Asp)
c.1373C>A (p.Ala458Asp)
c.1187C>A (p.Ala396Asp)
c.1106C>A (p.Ala369Asp)
c.812C>A (p.Ala271Asp)
c.1193C>A (p.Ala398Asp)
 dbSNP gnomAD v2
2g.48688350C>ACA346746910GTF2A1L,LHCGR,STON1-GTF2A1Lc.1447G>T (p.Ala483Ser)
c.948-211G>T (n.948-211G>T)
c.3441+16670C>A (n.3441+16670C>A)
c.*191G>T (n.*191G>T)
c.1366G>T (p.Ala456Ser)
c.276+16670C>A (n.276+16670C>A)
c.*220+5874G>T (n.*220+5874G>T)
c.490G>T (p.Ala164Ser)
c.517G>T (p.Ala173Ser)
c.1372G>T (p.Ala458Ser)
c.1186G>T (p.Ala396Ser)
c.1105G>T (p.Ala369Ser)
c.811G>T (p.Ala271Ser)
c.1192G>T (p.Ala398Ser)
2g.48688350C>GCA346746911GTF2A1L,LHCGR,STON1-GTF2A1Lc.1447G>C (p.Ala483Pro)
c.948-211G>C (n.948-211G>C)
c.3441+16670C>G (n.3441+16670C>G)
c.*191G>C (n.*191G>C)
c.1366G>C (p.Ala456Pro)
c.276+16670C>G (n.276+16670C>G)
c.*220+5874G>C (n.*220+5874G>C)
c.490G>C (p.Ala164Pro)
c.517G>C (p.Ala173Pro)
c.1372G>C (p.Ala458Pro)
c.1186G>C (p.Ala396Pro)
c.1105G>C (p.Ala369Pro)
c.811G>C (p.Ala271Pro)
c.1192G>C (p.Ala398Pro)
2g.48688350C>TCA346746913GTF2A1L,LHCGR,STON1-GTF2A1Lc.1447G>A (p.Ala483Thr)
c.948-211G>A (n.948-211G>A)
c.3441+16670C>T (n.3441+16670C>T)
c.*191G>A (n.*191G>A)
c.1366G>A (p.Ala456Thr)
c.276+16670C>T (n.276+16670C>T)
c.*220+5874G>A (n.*220+5874G>A)
c.490G>A (p.Ala164Thr)
c.517G>A (p.Ala173Thr)
c.1372G>A (p.Ala458Thr)
c.1186G>A (p.Ala396Thr)
c.1105G>A (p.Ala369Thr)
c.811G>A (p.Ala271Thr)
c.1192G>A (p.Ala398Thr)
 gnomAD v4
2g.48688351A=CA1248601098GTF2A1L,LHCGR,STON1-GTF2A1Lc.1446T= (p.His482=)
c.948-212T= (n.948-212T=)
c.3441+16671A= (n.3441+16671A=)
c.*190T= (n.*190T=)
c.1365T= (p.His455=)
c.276+16671A= (n.276+16671A=)
c.*220+5873T= (n.*220+5873T=)
c.489T= (p.His163=)
c.516T= (p.His172=)
c.1371T= (p.His457=)
c.1185T= (p.His395=)
c.1104T= (p.His368=)
c.810T= (p.His270=)
c.1191T= (p.His397=)
2g.48688351A>CCA346746915GTF2A1L,LHCGR,STON1-GTF2A1Lc.1446T>G (p.His482Gln)
c.948-212T>G (n.948-212T>G)
c.3441+16671A>C (n.3441+16671A>C)
c.*190T>G (n.*190T>G)
c.1365T>G (p.His455Gln)
c.276+16671A>C (n.276+16671A>C)
c.*220+5873T>G (n.*220+5873T>G)
c.489T>G (p.His163Gln)
c.516T>G (p.His172Gln)
c.1371T>G (p.His457Gln)
c.1185T>G (p.His395Gln)
c.1104T>G (p.His368Gln)
c.810T>G (p.His270Gln)
c.1191T>G (p.His397Gln)
2g.48688351A>GCA426125073GTF2A1L,LHCGR,STON1-GTF2A1Lc.1446T>C (p.His482=)
c.948-212T>C (n.948-212T>C)
c.3441+16671A>G (n.3441+16671A>G)
c.*190T>C (n.*190T>C)
c.1365T>C (p.His455=)
c.276+16671A>G (n.276+16671A>G)
c.*220+5873T>C (n.*220+5873T>C)
c.489T>C (p.His163=)
c.516T>C (p.His172=)
c.1371T>C (p.His457=)
c.1185T>C (p.His395=)
c.1104T>C (p.His368=)
c.810T>C (p.His270=)
c.1191T>C (p.His397=)
 dbSNP gnomAD v4
2g.48688351A>TCA346746917GTF2A1L,LHCGR,STON1-GTF2A1Lc.1446T>A (p.His482Gln)
c.948-212T>A (n.948-212T>A)
c.3441+16671A>T (n.3441+16671A>T)
c.*190T>A (n.*190T>A)
c.1365T>A (p.His455Gln)
c.276+16671A>T (n.276+16671A>T)
c.*220+5873T>A (n.*220+5873T>A)
c.489T>A (p.His163Gln)
c.516T>A (p.His172Gln)
c.1371T>A (p.His457Gln)
c.1185T>A (p.His395Gln)
c.1104T>A (p.His368Gln)
c.810T>A (p.His270Gln)
c.1191T>A (p.His397Gln)
2g.48688352T>ACA346746920GTF2A1L,LHCGR,STON1-GTF2A1Lc.1445A>T (p.His482Leu)
c.948-213A>T (n.948-213A>T)
c.3441+16672T>A (n.3441+16672T>A)
c.*189A>T (n.*189A>T)
c.1364A>T (p.His455Leu)
c.276+16672T>A (n.276+16672T>A)
c.*220+5872A>T (n.*220+5872A>T)
c.488A>T (p.His163Leu)
c.515A>T (p.His172Leu)
c.1370A>T (p.His457Leu)
c.1184A>T (p.His395Leu)
c.1103A>T (p.His368Leu)
c.809A>T (p.His270Leu)
c.1190A>T (p.His397Leu)
 dbSNP
2g.48688352T>CCA346746922GTF2A1L,LHCGR,STON1-GTF2A1Lc.1445A>G (p.His482Arg)
c.948-213A>G (n.948-213A>G)
c.3441+16672T>C (n.3441+16672T>C)
c.*189A>G (n.*189A>G)
c.1364A>G (p.His455Arg)
c.276+16672T>C (n.276+16672T>C)
c.*220+5872A>G (n.*220+5872A>G)
c.488A>G (p.His163Arg)
c.515A>G (p.His172Arg)
c.1370A>G (p.His457Arg)
c.1184A>G (p.His395Arg)
c.1103A>G (p.His368Arg)
c.809A>G (p.His270Arg)
c.1190A>G (p.His397Arg)
 dbSNP gnomAD v4
2g.48688352T>GCA346746918GTF2A1L,LHCGR,STON1-GTF2A1Lc.1445A>C (p.His482Pro)
c.948-213A>C (n.948-213A>C)
c.3441+16672T>G (n.3441+16672T>G)
c.*189A>C (n.*189A>C)
c.1364A>C (p.His455Pro)
c.276+16672T>G (n.276+16672T>G)
c.*220+5872A>C (n.*220+5872A>C)
c.488A>C (p.His163Pro)
c.515A>C (p.His172Pro)
c.1370A>C (p.His457Pro)
c.1184A>C (p.His395Pro)
c.1103A>C (p.His368Pro)
c.809A>C (p.His270Pro)
c.1190A>C (p.His397Pro)
2g.48688352T=CA1248601099GTF2A1L,LHCGR,STON1-GTF2A1Lc.1445A= (p.His482=)
c.948-213A= (n.948-213A=)
c.3441+16672T= (n.3441+16672T=)
c.*189A= (n.*189A=)
c.1364A= (p.His455=)
c.276+16672T= (n.276+16672T=)
c.*220+5872A= (n.*220+5872A=)
c.488A= (p.His163=)
c.515A= (p.His172=)
c.1370A= (p.His457=)
c.1184A= (p.His395=)
c.1103A= (p.His368=)
c.809A= (p.His270=)
c.1190A= (p.His397=)
2g.48688353G>ACA346746924GTF2A1L,LHCGR,STON1-GTF2A1Lc.1444C>T (p.His482Tyr)
c.948-214C>T (n.948-214C>T)
c.3441+16673G>A (n.3441+16673G>A)
c.*188C>T (n.*188C>T)
c.1363C>T (p.His455Tyr)
c.276+16673G>A (n.276+16673G>A)
c.*220+5871C>T (n.*220+5871C>T)
c.487C>T (p.His163Tyr)
c.514C>T (p.His172Tyr)
c.1369C>T (p.His457Tyr)
c.1183C>T (p.His395Tyr)
c.1102C>T (p.His368Tyr)
c.808C>T (p.His270Tyr)
c.1189C>T (p.His397Tyr)
 dbSNP
2g.48688353G>CCA346746925GTF2A1L,LHCGR,STON1-GTF2A1Lc.1444C>G (p.His482Asp)
c.948-214C>G (n.948-214C>G)
c.3441+16673G>C (n.3441+16673G>C)
c.*188C>G (n.*188C>G)
c.1363C>G (p.His455Asp)
c.276+16673G>C (n.276+16673G>C)
c.*220+5871C>G (n.*220+5871C>G)
c.487C>G (p.His163Asp)
c.514C>G (p.His172Asp)
c.1369C>G (p.His457Asp)
c.1183C>G (p.His395Asp)
c.1102C>G (p.His368Asp)
c.808C>G (p.His270Asp)
c.1189C>G (p.His397Asp)
2g.48688353G=CA1248601100GTF2A1L,LHCGR,STON1-GTF2A1Lc.1444C= (p.His482=)
c.948-214C= (n.948-214C=)
c.3441+16673G= (n.3441+16673G=)
c.*188C= (n.*188C=)
c.1363C= (p.His455=)
c.276+16673G= (n.276+16673G=)
c.*220+5871C= (n.*220+5871C=)
c.487C= (p.His163=)
c.514C= (p.His172=)
c.1369C= (p.His457=)
c.1183C= (p.His395=)
c.1102C= (p.His368=)
c.808C= (p.His270=)
c.1189C= (p.His397=)
2g.48688353G>TCA346746927GTF2A1L,LHCGR,STON1-GTF2A1Lc.1444C>A (p.His482Asn)
c.948-214C>A (n.948-214C>A)
c.3441+16673G>T (n.3441+16673G>T)
c.*188C>A (n.*188C>A)
c.1363C>A (p.His455Asn)
c.276+16673G>T (n.276+16673G>T)
c.*220+5871C>A (n.*220+5871C>A)
c.487C>A (p.His163Asn)
c.514C>A (p.His172Asn)
c.1369C>A (p.His457Asn)
c.1183C>A (p.His395Asn)
c.1102C>A (p.His368Asn)
c.808C>A (p.His270Asn)
c.1189C>A (p.His397Asn)
2g.48688354T>ACA346746929GTF2A1L,LHCGR,STON1-GTF2A1Lc.1443A>T (p.Arg481Ser)
c.948-215A>T (n.948-215A>T)
c.3441+16674T>A (n.3441+16674T>A)
c.*187A>T (n.*187A>T)
c.1362A>T (p.Arg454Ser)
c.276+16674T>A (n.276+16674T>A)
c.*220+5870A>T (n.*220+5870A>T)
c.486A>T (p.Arg162Ser)
c.513A>T (p.Arg171Ser)
c.1368A>T (p.Arg456Ser)
c.1182A>T (p.Arg394Ser)
c.1101A>T (p.Arg367Ser)
c.807A>T (p.Arg269Ser)
c.1188A>T (p.Arg396Ser)
2g.48688354T>CCA426125078GTF2A1L,LHCGR,STON1-GTF2A1Lc.1443A>G (p.Arg481=)
c.948-215A>G (n.948-215A>G)
c.3441+16674T>C (n.3441+16674T>C)
c.*187A>G (n.*187A>G)
c.1362A>G (p.Arg454=)
c.276+16674T>C (n.276+16674T>C)
c.*220+5870A>G (n.*220+5870A>G)
c.486A>G (p.Arg162=)
c.513A>G (p.Arg171=)
c.1368A>G (p.Arg456=)
c.1182A>G (p.Arg394=)
c.1101A>G (p.Arg367=)
c.807A>G (p.Arg269=)
c.1188A>G (p.Arg396=)
2g.48688354T>GCA346746930GTF2A1L,LHCGR,STON1-GTF2A1Lc.1443A>C (p.Arg481Ser)
c.948-215A>C (n.948-215A>C)
c.3441+16674T>G (n.3441+16674T>G)
c.*187A>C (n.*187A>C)
c.1362A>C (p.Arg454Ser)
c.276+16674T>G (n.276+16674T>G)
c.*220+5870A>C (n.*220+5870A>C)
c.486A>C (p.Arg162Ser)
c.513A>C (p.Arg171Ser)
c.1368A>C (p.Arg456Ser)
c.1182A>C (p.Arg394Ser)
c.1101A>C (p.Arg367Ser)
c.807A>C (p.Arg269Ser)
c.1188A>C (p.Arg396Ser)
 gnomAD v4
2g.48688355C>ACA346746932GTF2A1L,LHCGR,STON1-GTF2A1Lc.1442G>T (p.Arg481Ile)
c.948-216G>T (n.948-216G>T)
c.3441+16675C>A (n.3441+16675C>A)
c.*186G>T (n.*186G>T)
c.1361G>T (p.Arg454Ile)
c.276+16675C>A (n.276+16675C>A)
c.*220+5869G>T (n.*220+5869G>T)
c.485G>T (p.Arg162Ile)
c.512G>T (p.Arg171Ile)
c.1367G>T (p.Arg456Ile)
c.1181G>T (p.Arg394Ile)
c.1100G>T (p.Arg367Ile)
c.806G>T (p.Arg269Ile)
c.1187G>T (p.Arg396Ile)
2g.48688355C>GCA346746933GTF2A1L,LHCGR,STON1-GTF2A1Lc.1442G>C (p.Arg481Thr)
c.948-216G>C (n.948-216G>C)
c.3441+16675C>G (n.3441+16675C>G)
c.*186G>C (n.*186G>C)
c.1361G>C (p.Arg454Thr)
c.276+16675C>G (n.276+16675C>G)
c.*220+5869G>C (n.*220+5869G>C)
c.485G>C (p.Arg162Thr)
c.512G>C (p.Arg171Thr)
c.1367G>C (p.Arg456Thr)
c.1181G>C (p.Arg394Thr)
c.1100G>C (p.Arg367Thr)
c.806G>C (p.Arg269Thr)
c.1187G>C (p.Arg396Thr)
2g.48688355C>TCA346746935GTF2A1L,LHCGR,STON1-GTF2A1Lc.1442G>A (p.Arg481Lys)
c.948-216G>A (n.948-216G>A)
c.3441+16675C>T (n.3441+16675C>T)
c.*186G>A (n.*186G>A)
c.1361G>A (p.Arg454Lys)
c.276+16675C>T (n.276+16675C>T)
c.*220+5869G>A (n.*220+5869G>A)
c.485G>A (p.Arg162Lys)
c.512G>A (p.Arg171Lys)
c.1367G>A (p.Arg456Lys)
c.1181G>A (p.Arg394Lys)
c.1100G>A (p.Arg367Lys)
c.806G>A (p.Arg269Lys)
c.1187G>A (p.Arg396Lys)
2g.48688356T>ACA346746937GTF2A1L,LHCGR,STON1-GTF2A1Lc.1441A>T (p.Arg481Ter)
c.948-217A>T (n.948-217A>T)
c.3441+16676T>A (n.3441+16676T>A)
c.*185A>T (n.*185A>T)
c.1360A>T (p.Arg454Ter)
c.276+16676T>A (n.276+16676T>A)
c.*220+5868A>T (n.*220+5868A>T)
c.484A>T (p.Arg162Ter)
c.511A>T (p.Arg171Ter)
c.1366A>T (p.Arg456Ter)
c.1180A>T (p.Arg394Ter)
c.1099A>T (p.Arg367Ter)
c.805A>T (p.Arg269Ter)
c.1186A>T (p.Arg396Ter)
2g.48688356T>CCA346746939GTF2A1L,LHCGR,STON1-GTF2A1Lc.1441A>G (p.Arg481Gly)
c.948-217A>G (n.948-217A>G)
c.3441+16676T>C (n.3441+16676T>C)
c.*185A>G (n.*185A>G)
c.1360A>G (p.Arg454Gly)
c.276+16676T>C (n.276+16676T>C)
c.*220+5868A>G (n.*220+5868A>G)
c.484A>G (p.Arg162Gly)
c.511A>G (p.Arg171Gly)
c.1366A>G (p.Arg456Gly)
c.1180A>G (p.Arg394Gly)
c.1099A>G (p.Arg367Gly)
c.805A>G (p.Arg269Gly)
c.1186A>G (p.Arg396Gly)
 COSMIC
2g.48688356T>GCA426125082GTF2A1L,LHCGR,STON1-GTF2A1Lc.1441A>C (p.Arg481=)
c.948-217A>C (n.948-217A>C)
c.3441+16676T>G (n.3441+16676T>G)
c.*185A>C (n.*185A>C)
c.1360A>C (p.Arg454=)
c.276+16676T>G (n.276+16676T>G)
c.*220+5868A>C (n.*220+5868A>C)
c.484A>C (p.Arg162=)
c.511A>C (p.Arg171=)
c.1366A>C (p.Arg456=)
c.1180A>C (p.Arg394=)
c.1099A>C (p.Arg367=)
c.805A>C (p.Arg269=)
c.1186A>C (p.Arg396=)
2g.48688357T>ACA346746940GTF2A1L,LHCGR,STON1-GTF2A1Lc.1440A>T (p.Leu480Phe)
c.948-218A>T (n.948-218A>T)
c.3441+16677T>A (n.3441+16677T>A)
c.*184A>T (n.*184A>T)
c.1359A>T (p.Leu453Phe)
c.276+16677T>A (n.276+16677T>A)
c.*220+5867A>T (n.*220+5867A>T)
c.483A>T (p.Leu161Phe)
c.510A>T (p.Leu170Phe)
c.1365A>T (p.Leu455Phe)
c.1179A>T (p.Leu393Phe)
c.1098A>T (p.Leu366Phe)
c.804A>T (p.Leu268Phe)
c.1185A>T (p.Leu395Phe)
2g.48688357T>CCA426125085GTF2A1L,LHCGR,STON1-GTF2A1Lc.1440A>G (p.Leu480=)
c.948-218A>G (n.948-218A>G)
c.3441+16677T>C (n.3441+16677T>C)
c.*184A>G (n.*184A>G)
c.1359A>G (p.Leu453=)
c.276+16677T>C (n.276+16677T>C)
c.*220+5867A>G (n.*220+5867A>G)
c.483A>G (p.Leu161=)
c.510A>G (p.Leu170=)
c.1365A>G (p.Leu455=)
c.1179A>G (p.Leu393=)
c.1098A>G (p.Leu366=)
c.804A>G (p.Leu268=)
c.1185A>G (p.Leu395=)
2g.48688357T>GCA346746941GTF2A1L,LHCGR,STON1-GTF2A1Lc.1440A>C (p.Leu480Phe)
c.948-218A>C (n.948-218A>C)
c.3441+16677T>G (n.3441+16677T>G)
c.*184A>C (n.*184A>C)
c.1359A>C (p.Leu453Phe)
c.276+16677T>G (n.276+16677T>G)
c.*220+5867A>C (n.*220+5867A>C)
c.483A>C (p.Leu161Phe)
c.510A>C (p.Leu170Phe)
c.1365A>C (p.Leu455Phe)
c.1179A>C (p.Leu393Phe)
c.1098A>C (p.Leu366Phe)
c.804A>C (p.Leu268Phe)
c.1185A>C (p.Leu395Phe)
2g.48688358A>CCA346746947GTF2A1L,LHCGR,STON1-GTF2A1Lc.1439T>G (p.Leu480Ter)
c.948-219T>G (n.948-219T>G)
c.3441+16678A>C (n.3441+16678A>C)
c.*183T>G (n.*183T>G)
c.1358T>G (p.Leu453Ter)
c.276+16678A>C (n.276+16678A>C)
c.*220+5866T>G (n.*220+5866T>G)
c.482T>G (p.Leu161Ter)
c.509T>G (p.Leu170Ter)
c.1364T>G (p.Leu455Ter)
c.1178T>G (p.Leu393Ter)
c.1097T>G (p.Leu366Ter)
c.803T>G (p.Leu268Ter)
c.1184T>G (p.Leu395Ter)
2g.48688358A>GCA346746944GTF2A1L,LHCGR,STON1-GTF2A1Lc.1439T>C (p.Leu480Ser)
c.948-219T>C (n.948-219T>C)
c.3441+16678A>G (n.3441+16678A>G)
c.*183T>C (n.*183T>C)
c.1358T>C (p.Leu453Ser)
c.276+16678A>G (n.276+16678A>G)
c.*220+5866T>C (n.*220+5866T>C)
c.482T>C (p.Leu161Ser)
c.509T>C (p.Leu170Ser)
c.1364T>C (p.Leu455Ser)
c.1178T>C (p.Leu393Ser)
c.1097T>C (p.Leu366Ser)
c.803T>C (p.Leu268Ser)
c.1184T>C (p.Leu395Ser)
 gnomAD v4 COSMIC
2g.48688358A>TCA346746945GTF2A1L,LHCGR,STON1-GTF2A1Lc.1439T>A (p.Leu480Ter)
c.948-219T>A (n.948-219T>A)
c.3441+16678A>T (n.3441+16678A>T)
c.*183T>A (n.*183T>A)
c.1358T>A (p.Leu453Ter)
c.276+16678A>T (n.276+16678A>T)
c.*220+5866T>A (n.*220+5866T>A)
c.482T>A (p.Leu161Ter)
c.509T>A (p.Leu170Ter)
c.1364T>A (p.Leu455Ter)
c.1178T>A (p.Leu393Ter)
c.1097T>A (p.Leu366Ter)
c.803T>A (p.Leu268Ter)
c.1184T>A (p.Leu395Ter)
2g.48688359A>CCA346746948GTF2A1L,LHCGR,STON1-GTF2A1Lc.1438T>G (p.Leu480Val)
c.948-220T>G (n.948-220T>G)
c.3441+16679A>C (n.3441+16679A>C)
c.*182T>G (n.*182T>G)
c.1357T>G (p.Leu453Val)
c.276+16679A>C (n.276+16679A>C)
c.*220+5865T>G (n.*220+5865T>G)
c.481T>G (p.Leu161Val)
c.508T>G (p.Leu170Val)
c.1363T>G (p.Leu455Val)
c.1177T>G (p.Leu393Val)
c.1096T>G (p.Leu366Val)
c.802T>G (p.Leu268Val)
c.1183T>G (p.Leu395Val)
2g.48688359A>GCA426125088GTF2A1L,LHCGR,STON1-GTF2A1Lc.1438T>C (p.Leu480=)
c.948-220T>C (n.948-220T>C)
c.3441+16679A>G (n.3441+16679A>G)
c.*182T>C (n.*182T>C)
c.1357T>C (p.Leu453=)
c.276+16679A>G (n.276+16679A>G)
c.*220+5865T>C (n.*220+5865T>C)
c.481T>C (p.Leu161=)
c.508T>C (p.Leu170=)
c.1363T>C (p.Leu455=)
c.1177T>C (p.Leu393=)
c.1096T>C (p.Leu366=)
c.802T>C (p.Leu268=)
c.1183T>C (p.Leu395=)
2g.48688359A>TCA346746949GTF2A1L,LHCGR,STON1-GTF2A1Lc.1438T>A (p.Leu480Ile)
c.948-220T>A (n.948-220T>A)
c.3441+16679A>T (n.3441+16679A>T)
c.*182T>A (n.*182T>A)
c.1357T>A (p.Leu453Ile)
c.276+16679A>T (n.276+16679A>T)
c.*220+5865T>A (n.*220+5865T>A)
c.481T>A (p.Leu161Ile)
c.508T>A (p.Leu170Ile)
c.1363T>A (p.Leu455Ile)
c.1177T>A (p.Leu393Ile)
c.1096T>A (p.Leu366Ile)
c.802T>A (p.Leu268Ile)
c.1183T>A (p.Leu395Ile)
2g.48688360T>ACA426125089GTF2A1L,LHCGR,STON1-GTF2A1Lc.1437A>T (p.Arg479=)
c.948-221A>T (n.948-221A>T)
c.3441+16680T>A (n.3441+16680T>A)
c.*181A>T (n.*181A>T)
c.1356A>T (p.Arg452=)
c.276+16680T>A (n.276+16680T>A)
c.*220+5864A>T (n.*220+5864A>T)
c.480A>T (p.Arg160=)
c.507A>T (p.Arg169=)
c.1362A>T (p.Arg454=)
c.1176A>T (p.Arg392=)
c.1095A>T (p.Arg365=)
c.801A>T (p.Arg267=)
c.1182A>T (p.Arg394=)
2g.48688360T>CCA426125090GTF2A1L,LHCGR,STON1-GTF2A1Lc.1437A>G (p.Arg479=)
c.948-221A>G (n.948-221A>G)
c.3441+16680T>C (n.3441+16680T>C)
c.*181A>G (n.*181A>G)
c.1356A>G (p.Arg452=)
c.276+16680T>C (n.276+16680T>C)
c.*220+5864A>G (n.*220+5864A>G)
c.480A>G (p.Arg160=)
c.507A>G (p.Arg169=)
c.1362A>G (p.Arg454=)
c.1176A>G (p.Arg392=)
c.1095A>G (p.Arg365=)
c.801A>G (p.Arg267=)
c.1182A>G (p.Arg394=)
2g.48688360T>GCA1653027GTF2A1L,LHCGR,STON1-GTF2A1Lc.1437A>C (p.Arg479=)
c.948-221A>C (n.948-221A>C)
c.3441+16680T>G (n.3441+16680T>G)
c.*181A>C (n.*181A>C)
c.1356A>C (p.Arg452=)
c.276+16680T>G (n.276+16680T>G)
c.*220+5864A>C (n.*220+5864A>C)
c.480A>C (p.Arg160=)
c.507A>C (p.Arg169=)
c.1362A>C (p.Arg454=)
c.1176A>C (p.Arg392=)
c.1095A>C (p.Arg365=)
c.801A>C (p.Arg267=)
c.1182A>C (p.Arg394=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688360T=CA1248601101GTF2A1L,LHCGR,STON1-GTF2A1Lc.1437A= (p.Arg479=)
c.948-221A= (n.948-221A=)
c.3441+16680T= (n.3441+16680T=)
c.*181A= (n.*181A=)
c.1356A= (p.Arg452=)
c.276+16680T= (n.276+16680T=)
c.*220+5864A= (n.*220+5864A=)
c.480A= (p.Arg160=)
c.507A= (p.Arg169=)
c.1362A= (p.Arg454=)
c.1176A= (p.Arg392=)
c.1095A= (p.Arg365=)
c.801A= (p.Arg267=)
c.1182A= (p.Arg394=)
2g.48688361C>ACA346746952GTF2A1L,LHCGR,STON1-GTF2A1Lc.1436G>T (p.Arg479Leu)
c.948-222G>T (n.948-222G>T)
c.3441+16681C>A (n.3441+16681C>A)
c.*180G>T (n.*180G>T)
c.1355G>T (p.Arg452Leu)
c.276+16681C>A (n.276+16681C>A)
c.*220+5863G>T (n.*220+5863G>T)
c.479G>T (p.Arg160Leu)
c.506G>T (p.Arg169Leu)
c.1361G>T (p.Arg454Leu)
c.1175G>T (p.Arg392Leu)
c.1094G>T (p.Arg365Leu)
c.800G>T (p.Arg267Leu)
c.1181G>T (p.Arg394Leu)
 COSMIC
2g.48688361C=CA1248601102GTF2A1L,LHCGR,STON1-GTF2A1Lc.1436G= (p.Arg479=)
c.948-222G= (n.948-222G=)
c.3441+16681C= (n.3441+16681C=)
c.*180G= (n.*180G=)
c.1355G= (p.Arg452=)
c.276+16681C= (n.276+16681C=)
c.*220+5863G= (n.*220+5863G=)
c.479G= (p.Arg160=)
c.506G= (p.Arg169=)
c.1361G= (p.Arg454=)
c.1175G= (p.Arg392=)
c.1094G= (p.Arg365=)
c.800G= (p.Arg267=)
c.1181G= (p.Arg394=)
2g.48688361C>GCA346746954GTF2A1L,LHCGR,STON1-GTF2A1Lc.1436G>C (p.Arg479Pro)
c.948-222G>C (n.948-222G>C)
c.3441+16681C>G (n.3441+16681C>G)
c.*180G>C (n.*180G>C)
c.1355G>C (p.Arg452Pro)
c.276+16681C>G (n.276+16681C>G)
c.*220+5863G>C (n.*220+5863G>C)
c.479G>C (p.Arg160Pro)
c.506G>C (p.Arg169Pro)
c.1361G>C (p.Arg454Pro)
c.1175G>C (p.Arg392Pro)
c.1094G>C (p.Arg365Pro)
c.800G>C (p.Arg267Pro)
c.1181G>C (p.Arg394Pro)
2g.48688361C>TCA1653028GTF2A1L,LHCGR,STON1-GTF2A1Lc.1436G>A (p.Arg479Gln)
c.948-222G>A (n.948-222G>A)
c.3441+16681C>T (n.3441+16681C>T)
c.*180G>A (n.*180G>A)
c.1355G>A (p.Arg452Gln)
c.276+16681C>T (n.276+16681C>T)
c.*220+5863G>A (n.*220+5863G>A)
c.479G>A (p.Arg160Gln)
c.506G>A (p.Arg169Gln)
c.1361G>A (p.Arg454Gln)
c.1175G>A (p.Arg392Gln)
c.1094G>A (p.Arg365Gln)
c.800G>A (p.Arg267Gln)
c.1181G>A (p.Arg394Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.48688362G>ACA1653029GTF2A1L,LHCGR,STON1-GTF2A1Lc.1435C>T (p.Arg479Ter)
c.948-223C>T (n.948-223C>T)
c.3441+16682G>A (n.3441+16682G>A)
c.*179C>T (n.*179C>T)
c.1354C>T (p.Arg452Ter)
c.276+16682G>A (n.276+16682G>A)
c.*220+5862C>T (n.*220+5862C>T)
c.478C>T (p.Arg160Ter)
c.505C>T (p.Arg169Ter)
c.1360C>T (p.Arg454Ter)
c.1174C>T (p.Arg392Ter)
c.1093C>T (p.Arg365Ter)
c.799C>T (p.Arg267Ter)
c.1180C>T (p.Arg394Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688362G>CCA346746957GTF2A1L,LHCGR,STON1-GTF2A1Lc.1435C>G (p.Arg479Gly)
c.948-223C>G (n.948-223C>G)
c.3441+16682G>C (n.3441+16682G>C)
c.*179C>G (n.*179C>G)
c.1354C>G (p.Arg452Gly)
c.276+16682G>C (n.276+16682G>C)
c.*220+5862C>G (n.*220+5862C>G)
c.478C>G (p.Arg160Gly)
c.505C>G (p.Arg169Gly)
c.1360C>G (p.Arg454Gly)
c.1174C>G (p.Arg392Gly)
c.1093C>G (p.Arg365Gly)
c.799C>G (p.Arg267Gly)
c.1180C>G (p.Arg394Gly)
2g.48688362G=CA1248601103GTF2A1L,LHCGR,STON1-GTF2A1Lc.1435C= (p.Arg479=)
c.948-223C= (n.948-223C=)
c.3441+16682G= (n.3441+16682G=)
c.*179C= (n.*179C=)
c.1354C= (p.Arg452=)
c.276+16682G= (n.276+16682G=)
c.*220+5862C= (n.*220+5862C=)
c.478C= (p.Arg160=)
c.505C= (p.Arg169=)
c.1360C= (p.Arg454=)
c.1174C= (p.Arg392=)
c.1093C= (p.Arg365=)
c.799C= (p.Arg267=)
c.1180C= (p.Arg394=)
2g.48688362G>TCA426125094GTF2A1L,LHCGR,STON1-GTF2A1Lc.1435C>A (p.Arg479=)
c.948-223C>A (n.948-223C>A)
c.3441+16682G>T (n.3441+16682G>T)
c.*179C>A (n.*179C>A)
c.1354C>A (p.Arg452=)
c.276+16682G>T (n.276+16682G>T)
c.*220+5862C>A (n.*220+5862C>A)
c.478C>A (p.Arg160=)
c.505C>A (p.Arg169=)
c.1360C>A (p.Arg454=)
c.1174C>A (p.Arg392=)
c.1093C>A (p.Arg365=)
c.799C>A (p.Arg267=)
c.1180C>A (p.Arg394=)
2g.48688363C>ACA426125095GTF2A1L,LHCGR,STON1-GTF2A1Lc.1434G>T (p.Leu478=)
c.948-224G>T (n.948-224G>T)
c.3441+16683C>A (n.3441+16683C>A)
c.*178G>T (n.*178G>T)
c.1353G>T (p.Leu451=)
c.276+16683C>A (n.276+16683C>A)
c.*220+5861G>T (n.*220+5861G>T)
c.477G>T (p.Leu159=)
c.504G>T (p.Leu168=)
c.1359G>T (p.Leu453=)
c.1173G>T (p.Leu391=)
c.1092G>T (p.Leu364=)
c.798G>T (p.Leu266=)
c.1179G>T (p.Leu393=)
2g.48688363C>GCA426125097GTF2A1L,LHCGR,STON1-GTF2A1Lc.1434G>C (p.Leu478=)
c.948-224G>C (n.948-224G>C)
c.3441+16683C>G (n.3441+16683C>G)
c.*178G>C (n.*178G>C)
c.1353G>C (p.Leu451=)
c.276+16683C>G (n.276+16683C>G)
c.*220+5861G>C (n.*220+5861G>C)
c.477G>C (p.Leu159=)
c.504G>C (p.Leu168=)
c.1359G>C (p.Leu453=)
c.1173G>C (p.Leu391=)
c.1092G>C (p.Leu364=)
c.798G>C (p.Leu266=)
c.1179G>C (p.Leu393=)
2g.48688363C>TCA426125099GTF2A1L,LHCGR,STON1-GTF2A1Lc.1434G>A (p.Leu478=)
c.948-224G>A (n.948-224G>A)
c.3441+16683C>T (n.3441+16683C>T)
c.*178G>A (n.*178G>A)
c.1353G>A (p.Leu451=)
c.276+16683C>T (n.276+16683C>T)
c.*220+5861G>A (n.*220+5861G>A)
c.477G>A (p.Leu159=)
c.504G>A (p.Leu168=)
c.1359G>A (p.Leu453=)
c.1173G>A (p.Leu391=)
c.1092G>A (p.Leu364=)
c.798G>A (p.Leu266=)
c.1179G>A (p.Leu393=)
 gnomAD v4
2g.48688364A>CCA346746959GTF2A1L,LHCGR,STON1-GTF2A1Lc.1433T>G (p.Leu478Arg)
c.948-225T>G (n.948-225T>G)
c.3441+16684A>C (n.3441+16684A>C)
c.*177T>G (n.*177T>G)
c.1352T>G (p.Leu451Arg)
c.276+16684A>C (n.276+16684A>C)
c.*220+5860T>G (n.*220+5860T>G)
c.476T>G (p.Leu159Arg)
c.503T>G (p.Leu168Arg)
c.1358T>G (p.Leu453Arg)
c.1172T>G (p.Leu391Arg)
c.1091T>G (p.Leu364Arg)
c.797T>G (p.Leu266Arg)
c.1178T>G (p.Leu393Arg)
2g.48688364A>GCA346746961GTF2A1L,LHCGR,STON1-GTF2A1Lc.1433T>C (p.Leu478Pro)
c.948-225T>C (n.948-225T>C)
c.3441+16684A>G (n.3441+16684A>G)
c.*177T>C (n.*177T>C)
c.1352T>C (p.Leu451Pro)
c.276+16684A>G (n.276+16684A>G)
c.*220+5860T>C (n.*220+5860T>C)
c.476T>C (p.Leu159Pro)
c.503T>C (p.Leu168Pro)
c.1358T>C (p.Leu453Pro)
c.1172T>C (p.Leu391Pro)
c.1091T>C (p.Leu364Pro)
c.797T>C (p.Leu266Pro)
c.1178T>C (p.Leu393Pro)
2g.48688364A>TCA346746962GTF2A1L,LHCGR,STON1-GTF2A1Lc.1433T>A (p.Leu478Gln)
c.948-225T>A (n.948-225T>A)
c.3441+16684A>T (n.3441+16684A>T)
c.*177T>A (n.*177T>A)
c.1352T>A (p.Leu451Gln)
c.276+16684A>T (n.276+16684A>T)
c.*220+5860T>A (n.*220+5860T>A)
c.476T>A (p.Leu159Gln)
c.503T>A (p.Leu168Gln)
c.1358T>A (p.Leu453Gln)
c.1172T>A (p.Leu391Gln)
c.1091T>A (p.Leu364Gln)
c.797T>A (p.Leu266Gln)
c.1178T>A (p.Leu393Gln)
 gnomAD v4
2g.48688365G>ACA426125103GTF2A1L,LHCGR,STON1-GTF2A1Lc.1432C>T (p.Leu478=)
c.948-226C>T (n.948-226C>T)
c.3441+16685G>A (n.3441+16685G>A)
c.*176C>T (n.*176C>T)
c.1351C>T (p.Leu451=)
c.276+16685G>A (n.276+16685G>A)
c.*220+5859C>T (n.*220+5859C>T)
c.475C>T (p.Leu159=)
c.502C>T (p.Leu168=)
c.1357C>T (p.Leu453=)
c.1171C>T (p.Leu391=)
c.1090C>T (p.Leu364=)
c.796C>T (p.Leu266=)
c.1177C>T (p.Leu393=)
 gnomAD v4
2g.48688365G>CCA346746963GTF2A1L,LHCGR,STON1-GTF2A1Lc.1432C>G (p.Leu478Val)
c.948-226C>G (n.948-226C>G)
c.3441+16685G>C (n.3441+16685G>C)
c.*176C>G (n.*176C>G)
c.1351C>G (p.Leu451Val)
c.276+16685G>C (n.276+16685G>C)
c.*220+5859C>G (n.*220+5859C>G)
c.475C>G (p.Leu159Val)
c.502C>G (p.Leu168Val)
c.1357C>G (p.Leu453Val)
c.1171C>G (p.Leu391Val)
c.1090C>G (p.Leu364Val)
c.796C>G (p.Leu266Val)
c.1177C>G (p.Leu393Val)
2g.48688365G>TCA346746965GTF2A1L,LHCGR,STON1-GTF2A1Lc.1432C>A (p.Leu478Met)
c.948-226C>A (n.948-226C>A)
c.3441+16685G>T (n.3441+16685G>T)
c.*176C>A (n.*176C>A)
c.1351C>A (p.Leu451Met)
c.276+16685G>T (n.276+16685G>T)
c.*220+5859C>A (n.*220+5859C>A)
c.475C>A (p.Leu159Met)
c.502C>A (p.Leu168Met)
c.1357C>A (p.Leu453Met)
c.1171C>A (p.Leu391Met)
c.1090C>A (p.Leu364Met)
c.796C>A (p.Leu266Met)
c.1177C>A (p.Leu393Met)
2g.48688366C>ACA346746966GTF2A1L,LHCGR,STON1-GTF2A1Lc.1431G>T (p.Lys477Asn)
c.948-227G>T (n.948-227G>T)
c.3441+16686C>A (n.3441+16686C>A)
c.*175G>T (n.*175G>T)
c.1350G>T (p.Lys450Asn)
c.276+16686C>A (n.276+16686C>A)
c.*220+5858G>T (n.*220+5858G>T)
c.474G>T (p.Lys158Asn)
c.501G>T (p.Lys167Asn)
c.1356G>T (p.Lys452Asn)
c.1170G>T (p.Lys390Asn)
c.1089G>T (p.Lys363Asn)
c.795G>T (p.Lys265Asn)
c.1176G>T (p.Lys392Asn)
 gnomAD v4
2g.48688366C>GCA346746967GTF2A1L,LHCGR,STON1-GTF2A1Lc.1431G>C (p.Lys477Asn)
c.948-227G>C (n.948-227G>C)
c.3441+16686C>G (n.3441+16686C>G)
c.*175G>C (n.*175G>C)
c.1350G>C (p.Lys450Asn)
c.276+16686C>G (n.276+16686C>G)
c.*220+5858G>C (n.*220+5858G>C)
c.474G>C (p.Lys158Asn)
c.501G>C (p.Lys167Asn)
c.1356G>C (p.Lys452Asn)
c.1170G>C (p.Lys390Asn)
c.1089G>C (p.Lys363Asn)
c.795G>C (p.Lys265Asn)
c.1176G>C (p.Lys392Asn)
2g.48688366C>TCA426125105GTF2A1L,LHCGR,STON1-GTF2A1Lc.1431G>A (p.Lys477=)
c.948-227G>A (n.948-227G>A)
c.3441+16686C>T (n.3441+16686C>T)
c.*175G>A (n.*175G>A)
c.1350G>A (p.Lys450=)
c.276+16686C>T (n.276+16686C>T)
c.*220+5858G>A (n.*220+5858G>A)
c.474G>A (p.Lys158=)
c.501G>A (p.Lys167=)
c.1356G>A (p.Lys452=)
c.1170G>A (p.Lys390=)
c.1089G>A (p.Lys363=)
c.795G>A (p.Lys265=)
c.1176G>A (p.Lys392=)
 gnomAD v4
2g.48688367T>ACA346746968GTF2A1L,LHCGR,STON1-GTF2A1Lc.1430A>T (p.Lys477Met)
c.948-228A>T (n.948-228A>T)
c.3441+16687T>A (n.3441+16687T>A)
c.*174A>T (n.*174A>T)
c.1349A>T (p.Lys450Met)
c.276+16687T>A (n.276+16687T>A)
c.*220+5857A>T (n.*220+5857A>T)
c.473A>T (p.Lys158Met)
c.500A>T (p.Lys167Met)
c.1355A>T (p.Lys452Met)
c.1169A>T (p.Lys390Met)
c.1088A>T (p.Lys363Met)
c.794A>T (p.Lys265Met)
c.1175A>T (p.Lys392Met)
2g.48688367T>CCA346746970GTF2A1L,LHCGR,STON1-GTF2A1Lc.1430A>G (p.Lys477Arg)
c.948-228A>G (n.948-228A>G)
c.3441+16687T>C (n.3441+16687T>C)
c.*174A>G (n.*174A>G)
c.1349A>G (p.Lys450Arg)
c.276+16687T>C (n.276+16687T>C)
c.*220+5857A>G (n.*220+5857A>G)
c.473A>G (p.Lys158Arg)
c.500A>G (p.Lys167Arg)
c.1355A>G (p.Lys452Arg)
c.1169A>G (p.Lys390Arg)
c.1088A>G (p.Lys363Arg)
c.794A>G (p.Lys265Arg)
c.1175A>G (p.Lys392Arg)
2g.48688367T>GCA346746969GTF2A1L,LHCGR,STON1-GTF2A1Lc.1430A>C (p.Lys477Thr)
c.948-228A>C (n.948-228A>C)
c.3441+16687T>G (n.3441+16687T>G)
c.*174A>C (n.*174A>C)
c.1349A>C (p.Lys450Thr)
c.276+16687T>G (n.276+16687T>G)
c.*220+5857A>C (n.*220+5857A>C)
c.473A>C (p.Lys158Thr)
c.500A>C (p.Lys167Thr)
c.1355A>C (p.Lys452Thr)
c.1169A>C (p.Lys390Thr)
c.1088A>C (p.Lys363Thr)
c.794A>C (p.Lys265Thr)
c.1175A>C (p.Lys392Thr)
2g.48688368T>ACA346746972GTF2A1L,LHCGR,STON1-GTF2A1Lc.1429A>T (p.Lys477Ter)
c.948-229A>T (n.948-229A>T)
c.3441+16688T>A (n.3441+16688T>A)
c.*173A>T (n.*173A>T)
c.1348A>T (p.Lys450Ter)
c.276+16688T>A (n.276+16688T>A)
c.*220+5856A>T (n.*220+5856A>T)
c.472A>T (p.Lys158Ter)
c.499A>T (p.Lys167Ter)
c.1354A>T (p.Lys452Ter)
c.1168A>T (p.Lys390Ter)
c.1087A>T (p.Lys363Ter)
c.793A>T (p.Lys265Ter)
c.1174A>T (p.Lys392Ter)
2g.48688368T>CCA346746974GTF2A1L,LHCGR,STON1-GTF2A1Lc.1429A>G (p.Lys477Glu)
c.948-229A>G (n.948-229A>G)
c.3441+16688T>C (n.3441+16688T>C)
c.*173A>G (n.*173A>G)
c.1348A>G (p.Lys450Glu)
c.276+16688T>C (n.276+16688T>C)
c.*220+5856A>G (n.*220+5856A>G)
c.472A>G (p.Lys158Glu)
c.499A>G (p.Lys167Glu)
c.1354A>G (p.Lys452Glu)
c.1168A>G (p.Lys390Glu)
c.1087A>G (p.Lys363Glu)
c.793A>G (p.Lys265Glu)
c.1174A>G (p.Lys392Glu)
 dbSNP gnomAD v2 gnomAD v4
2g.48688368T>GCA346746975GTF2A1L,LHCGR,STON1-GTF2A1Lc.1429A>C (p.Lys477Gln)
c.948-229A>C (n.948-229A>C)
c.3441+16688T>G (n.3441+16688T>G)
c.*173A>C (n.*173A>C)
c.1348A>C (p.Lys450Gln)
c.276+16688T>G (n.276+16688T>G)
c.*220+5856A>C (n.*220+5856A>C)
c.472A>C (p.Lys158Gln)
c.499A>C (p.Lys167Gln)
c.1354A>C (p.Lys452Gln)
c.1168A>C (p.Lys390Gln)
c.1087A>C (p.Lys363Gln)
c.793A>C (p.Lys265Gln)
c.1174A>C (p.Lys392Gln)
2g.48688368T=CA1248601104GTF2A1L,LHCGR,STON1-GTF2A1Lc.1429A= (p.Lys477=)
c.948-229A= (n.948-229A=)
c.3441+16688T= (n.3441+16688T=)
c.*173A= (n.*173A=)
c.1348A= (p.Lys450=)
c.276+16688T= (n.276+16688T=)
c.*220+5856A= (n.*220+5856A=)
c.472A= (p.Lys158=)
c.499A= (p.Lys167=)
c.1354A= (p.Lys452=)
c.1168A= (p.Lys390=)
c.1087A= (p.Lys363=)
c.793A= (p.Lys265=)
c.1174A= (p.Lys392=)
2g.48688369T>ACA346746977GTF2A1L,LHCGR,STON1-GTF2A1Lc.1428A>T (p.Gln476His)
c.948-230A>T (n.948-230A>T)
c.3441+16689T>A (n.3441+16689T>A)
c.*172A>T (n.*172A>T)
c.1347A>T (p.Gln449His)
c.276+16689T>A (n.276+16689T>A)
c.*220+5855A>T (n.*220+5855A>T)
c.471A>T (p.Gln157His)
c.498A>T (p.Gln166His)
c.1353A>T (p.Gln451His)
c.1167A>T (p.Gln389His)
c.1086A>T (p.Gln362His)
c.792A>T (p.Gln264His)
c.1173A>T (p.Gln391His)
2g.48688369T>CCA426125106GTF2A1L,LHCGR,STON1-GTF2A1Lc.1428A>G (p.Gln476=)
c.948-230A>G (n.948-230A>G)
c.3441+16689T>C (n.3441+16689T>C)
c.*172A>G (n.*172A>G)
c.1347A>G (p.Gln449=)
c.276+16689T>C (n.276+16689T>C)
c.*220+5855A>G (n.*220+5855A>G)
c.471A>G (p.Gln157=)
c.498A>G (p.Gln166=)
c.1353A>G (p.Gln451=)
c.1167A>G (p.Gln389=)
c.1086A>G (p.Gln362=)
c.792A>G (p.Gln264=)
c.1173A>G (p.Gln391=)
2g.48688369T>GCA346746978GTF2A1L,LHCGR,STON1-GTF2A1Lc.1428A>C (p.Gln476His)
c.948-230A>C (n.948-230A>C)
c.3441+16689T>G (n.3441+16689T>G)
c.*172A>C (n.*172A>C)
c.1347A>C (p.Gln449His)
c.276+16689T>G (n.276+16689T>G)
c.*220+5855A>C (n.*220+5855A>C)
c.471A>C (p.Gln157His)
c.498A>C (p.Gln166His)
c.1353A>C (p.Gln451His)
c.1167A>C (p.Gln389His)
c.1086A>C (p.Gln362His)
c.792A>C (p.Gln264His)
c.1173A>C (p.Gln391His)
2g.48688370T>ACA346746983GTF2A1L,LHCGR,STON1-GTF2A1Lc.1427A>T (p.Gln476Leu)
c.948-231A>T (n.948-231A>T)
c.3441+16690T>A (n.3441+16690T>A)
c.*171A>T (n.*171A>T)
c.1346A>T (p.Gln449Leu)
c.276+16690T>A (n.276+16690T>A)
c.*220+5854A>T (n.*220+5854A>T)
c.470A>T (p.Gln157Leu)
c.497A>T (p.Gln166Leu)
c.1352A>T (p.Gln451Leu)
c.1166A>T (p.Gln389Leu)
c.1085A>T (p.Gln362Leu)
c.791A>T (p.Gln264Leu)
c.1172A>T (p.Gln391Leu)
2g.48688370T>CCA346746984GTF2A1L,LHCGR,STON1-GTF2A1Lc.1427A>G (p.Gln476Arg)
c.948-231A>G (n.948-231A>G)
c.3441+16690T>C (n.3441+16690T>C)
c.*171A>G (n.*171A>G)
c.1346A>G (p.Gln449Arg)
c.276+16690T>C (n.276+16690T>C)
c.*220+5854A>G (n.*220+5854A>G)
c.470A>G (p.Gln157Arg)
c.497A>G (p.Gln166Arg)
c.1352A>G (p.Gln451Arg)
c.1166A>G (p.Gln389Arg)
c.1085A>G (p.Gln362Arg)
c.791A>G (p.Gln264Arg)
c.1172A>G (p.Gln391Arg)
 gnomAD v4
2g.48688370T>GCA346746985GTF2A1L,LHCGR,STON1-GTF2A1Lc.1427A>C (p.Gln476Pro)
c.948-231A>C (n.948-231A>C)
c.3441+16690T>G (n.3441+16690T>G)
c.*171A>C (n.*171A>C)
c.1346A>C (p.Gln449Pro)
c.276+16690T>G (n.276+16690T>G)
c.*220+5854A>C (n.*220+5854A>C)
c.470A>C (p.Gln157Pro)
c.497A>C (p.Gln166Pro)
c.1352A>C (p.Gln451Pro)
c.1166A>C (p.Gln389Pro)
c.1085A>C (p.Gln362Pro)
c.791A>C (p.Gln264Pro)
c.1172A>C (p.Gln391Pro)
2g.48688371G>ACA346746987GTF2A1L,LHCGR,STON1-GTF2A1Lc.1426C>T (p.Gln476Ter)
c.948-232C>T (n.948-232C>T)
c.3441+16691G>A (n.3441+16691G>A)
c.*170C>T (n.*170C>T)
c.1345C>T (p.Gln449Ter)
c.276+16691G>A (n.276+16691G>A)
c.*220+5853C>T (n.*220+5853C>T)
c.469C>T (p.Gln157Ter)
c.496C>T (p.Gln166Ter)
c.1351C>T (p.Gln451Ter)
c.1165C>T (p.Gln389Ter)
c.1084C>T (p.Gln362Ter)
c.790C>T (p.Gln264Ter)
c.1171C>T (p.Gln391Ter)
2g.48688371G>CCA346746988GTF2A1L,LHCGR,STON1-GTF2A1Lc.1426C>G (p.Gln476Glu)
c.948-232C>G (n.948-232C>G)
c.3441+16691G>C (n.3441+16691G>C)
c.*170C>G (n.*170C>G)
c.1345C>G (p.Gln449Glu)
c.276+16691G>C (n.276+16691G>C)
c.*220+5853C>G (n.*220+5853C>G)
c.469C>G (p.Gln157Glu)
c.496C>G (p.Gln166Glu)
c.1351C>G (p.Gln451Glu)
c.1165C>G (p.Gln389Glu)
c.1084C>G (p.Gln362Glu)
c.790C>G (p.Gln264Glu)
c.1171C>G (p.Gln391Glu)
 COSMIC
2g.48688371G=CA1248601105GTF2A1L,LHCGR,STON1-GTF2A1Lc.1426C= (p.Gln476=)
c.948-232C= (n.948-232C=)
c.3441+16691G= (n.3441+16691G=)
c.*170C= (n.*170C=)
c.1345C= (p.Gln449=)
c.276+16691G= (n.276+16691G=)
c.*220+5853C= (n.*220+5853C=)
c.469C= (p.Gln157=)
c.496C= (p.Gln166=)
c.1351C= (p.Gln451=)
c.1165C= (p.Gln389=)
c.1084C= (p.Gln362=)
c.790C= (p.Gln264=)
c.1171C= (p.Gln391=)
2g.48688371G>TCA1653030GTF2A1L,LHCGR,STON1-GTF2A1Lc.1426C>A (p.Gln476Lys)
c.948-232C>A (n.948-232C>A)
c.3441+16691G>T (n.3441+16691G>T)
c.*170C>A (n.*170C>A)
c.1345C>A (p.Gln449Lys)
c.276+16691G>T (n.276+16691G>T)
c.*220+5853C>A (n.*220+5853C>A)
c.469C>A (p.Gln157Lys)
c.496C>A (p.Gln166Lys)
c.1351C>A (p.Gln451Lys)
c.1165C>A (p.Gln389Lys)
c.1084C>A (p.Gln362Lys)
c.790C>A (p.Gln264Lys)
c.1171C>A (p.Gln391Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.48688372G>ACA426125115GTF2A1L,LHCGR,STON1-GTF2A1Lc.1425C>T (p.Asp475=)
c.948-233C>T (n.948-233C>T)
c.3441+16692G>A (n.3441+16692G>A)
c.*169C>T (n.*169C>T)
c.1344C>T (p.Asp448=)
c.276+16692G>A (n.276+16692G>A)
c.*220+5852C>T (n.*220+5852C>T)
c.468C>T (p.Asp156=)
c.495C>T (p.Asp165=)
c.1350C>T (p.Asp450=)
c.1164C>T (p.Asp388=)
c.1083C>T (p.Asp361=)
c.789C>T (p.Asp263=)
c.1170C>T (p.Asp390=)
 gnomAD v4 COSMIC
2g.48688372G>CCA346746990GTF2A1L,LHCGR,STON1-GTF2A1Lc.1425C>G (p.Asp475Glu)
c.948-233C>G (n.948-233C>G)
c.3441+16692G>C (n.3441+16692G>C)
c.*169C>G (n.*169C>G)
c.1344C>G (p.Asp448Glu)
c.276+16692G>C (n.276+16692G>C)
c.*220+5852C>G (n.*220+5852C>G)
c.468C>G (p.Asp156Glu)
c.495C>G (p.Asp165Glu)
c.1350C>G (p.Asp450Glu)
c.1164C>G (p.Asp388Glu)
c.1083C>G (p.Asp361Glu)
c.789C>G (p.Asp263Glu)
c.1170C>G (p.Asp390Glu)
2g.48688372G>TCA346746991GTF2A1L,LHCGR,STON1-GTF2A1Lc.1425C>A (p.Asp475Glu)
c.948-233C>A (n.948-233C>A)
c.3441+16692G>T (n.3441+16692G>T)
c.*169C>A (n.*169C>A)
c.1344C>A (p.Asp448Glu)
c.276+16692G>T (n.276+16692G>T)
c.*220+5852C>A (n.*220+5852C>A)
c.468C>A (p.Asp156Glu)
c.495C>A (p.Asp165Glu)
c.1350C>A (p.Asp450Glu)
c.1164C>A (p.Asp388Glu)
c.1083C>A (p.Asp361Glu)
c.789C>A (p.Asp263Glu)
c.1170C>A (p.Asp390Glu)
2g.48688373T>ACA346746992GTF2A1L,LHCGR,STON1-GTF2A1Lc.1424A>T (p.Asp475Val)
c.948-234A>T (n.948-234A>T)
c.3441+16693T>A (n.3441+16693T>A)
c.*168A>T (n.*168A>T)
c.1343A>T (p.Asp448Val)
c.276+16693T>A (n.276+16693T>A)
c.*220+5851A>T (n.*220+5851A>T)
c.467A>T (p.Asp156Val)
c.494A>T (p.Asp165Val)
c.1349A>T (p.Asp450Val)
c.1163A>T (p.Asp388Val)
c.1082A>T (p.Asp361Val)
c.788A>T (p.Asp263Val)
c.1169A>T (p.Asp390Val)
2g.48688373T>CCA346746994GTF2A1L,LHCGR,STON1-GTF2A1Lc.1424A>G (p.Asp475Gly)
c.948-234A>G (n.948-234A>G)
c.3441+16693T>C (n.3441+16693T>C)
c.*168A>G (n.*168A>G)
c.1343A>G (p.Asp448Gly)
c.276+16693T>C (n.276+16693T>C)
c.*220+5851A>G (n.*220+5851A>G)
c.467A>G (p.Asp156Gly)
c.494A>G (p.Asp165Gly)
c.1349A>G (p.Asp450Gly)
c.1163A>G (p.Asp388Gly)
c.1082A>G (p.Asp361Gly)
c.788A>G (p.Asp263Gly)
c.1169A>G (p.Asp390Gly)
2g.48688373T>GCA346746993GTF2A1L,LHCGR,STON1-GTF2A1Lc.1424A>C (p.Asp475Ala)
c.948-234A>C (n.948-234A>C)
c.3441+16693T>G (n.3441+16693T>G)
c.*168A>C (n.*168A>C)
c.1343A>C (p.Asp448Ala)
c.276+16693T>G (n.276+16693T>G)
c.*220+5851A>C (n.*220+5851A>C)
c.467A>C (p.Asp156Ala)
c.494A>C (p.Asp165Ala)
c.1349A>C (p.Asp450Ala)
c.1163A>C (p.Asp388Ala)
c.1082A>C (p.Asp361Ala)
c.788A>C (p.Asp263Ala)
c.1169A>C (p.Asp390Ala)
2g.48688374C>ACA346746996GTF2A1L,LHCGR,STON1-GTF2A1Lc.1423G>T (p.Asp475Tyr)
c.948-235G>T (n.948-235G>T)
c.3441+16694C>A (n.3441+16694C>A)
c.*167G>T (n.*167G>T)
c.1342G>T (p.Asp448Tyr)
c.276+16694C>A (n.276+16694C>A)
c.*220+5850G>T (n.*220+5850G>T)
c.466G>T (p.Asp156Tyr)
c.493G>T (p.Asp165Tyr)
c.1348G>T (p.Asp450Tyr)
c.1162G>T (p.Asp388Tyr)
c.1081G>T (p.Asp361Tyr)
c.787G>T (p.Asp263Tyr)
c.1168G>T (p.Asp390Tyr)
 gnomAD v4
2g.48688374C>GCA346746998GTF2A1L,LHCGR,STON1-GTF2A1Lc.1423G>C (p.Asp475His)
c.948-235G>C (n.948-235G>C)
c.3441+16694C>G (n.3441+16694C>G)
c.*167G>C (n.*167G>C)
c.1342G>C (p.Asp448His)
c.276+16694C>G (n.276+16694C>G)
c.*220+5850G>C (n.*220+5850G>C)
c.466G>C (p.Asp156His)
c.493G>C (p.Asp165His)
c.1348G>C (p.Asp450His)
c.1162G>C (p.Asp388His)
c.1081G>C (p.Asp361His)
c.787G>C (p.Asp263His)
c.1168G>C (p.Asp390His)
2g.48688374C>TCA346746999GTF2A1L,LHCGR,STON1-GTF2A1Lc.1423G>A (p.Asp475Asn)
c.948-235G>A (n.948-235G>A)
c.3441+16694C>T (n.3441+16694C>T)
c.*167G>A (n.*167G>A)
c.1342G>A (p.Asp448Asn)
c.276+16694C>T (n.276+16694C>T)
c.*220+5850G>A (n.*220+5850G>A)
c.466G>A (p.Asp156Asn)
c.493G>A (p.Asp165Asn)
c.1348G>A (p.Asp450Asn)
c.1162G>A (p.Asp388Asn)
c.1081G>A (p.Asp361Asn)
c.787G>A (p.Asp263Asn)
c.1168G>A (p.Asp390Asn)
2g.48688375C>ACA426125120GTF2A1L,LHCGR,STON1-GTF2A1Lc.1422G>T (p.Leu474=)
c.948-236G>T (n.948-236G>T)
c.3441+16695C>A (n.3441+16695C>A)
c.*166G>T (n.*166G>T)
c.1341G>T (p.Leu447=)
c.276+16695C>A (n.276+16695C>A)
c.*220+5849G>T (n.*220+5849G>T)
c.465G>T (p.Leu155=)
c.492G>T (p.Leu164=)
c.1347G>T (p.Leu449=)
c.1161G>T (p.Leu387=)
c.1080G>T (p.Leu360=)
c.786G>T (p.Leu262=)
c.1167G>T (p.Leu389=)
2g.48688375C=CA1248601106GTF2A1L,LHCGR,STON1-GTF2A1Lc.1422G= (p.Leu474=)
c.948-236G= (n.948-236G=)
c.3441+16695C= (n.3441+16695C=)
c.*166G= (n.*166G=)
c.1341G= (p.Leu447=)
c.276+16695C= (n.276+16695C=)
c.*220+5849G= (n.*220+5849G=)
c.465G= (p.Leu155=)
c.492G= (p.Leu164=)
c.1347G= (p.Leu449=)
c.1161G= (p.Leu387=)
c.1080G= (p.Leu360=)
c.786G= (p.Leu262=)
c.1167G= (p.Leu389=)
2g.48688375C>GCA426125121GTF2A1L,LHCGR,STON1-GTF2A1Lc.1422G>C (p.Leu474=)
c.948-236G>C (n.948-236G>C)
c.3441+16695C>G (n.3441+16695C>G)
c.*166G>C (n.*166G>C)
c.1341G>C (p.Leu447=)
c.276+16695C>G (n.276+16695C>G)
c.*220+5849G>C (n.*220+5849G>C)
c.465G>C (p.Leu155=)
c.492G>C (p.Leu164=)
c.1347G>C (p.Leu449=)
c.1161G>C (p.Leu387=)
c.1080G>C (p.Leu360=)
c.786G>C (p.Leu262=)
c.1167G>C (p.Leu389=)
2g.48688375C>TCA426125122GTF2A1L,LHCGR,STON1-GTF2A1Lc.1422G>A (p.Leu474=)
c.948-236G>A (n.948-236G>A)
c.3441+16695C>T (n.3441+16695C>T)
c.*166G>A (n.*166G>A)
c.1341G>A (p.Leu447=)
c.276+16695C>T (n.276+16695C>T)
c.*220+5849G>A (n.*220+5849G>A)
c.465G>A (p.Leu155=)
c.492G>A (p.Leu164=)
c.1347G>A (p.Leu449=)
c.1161G>A (p.Leu387=)
c.1080G>A (p.Leu360=)
c.786G>A (p.Leu262=)
c.1167G>A (p.Leu389=)
 dbSNP gnomAD v3 gnomAD v4
2g.48688376A>CCA346747002GTF2A1L,LHCGR,STON1-GTF2A1Lc.1421T>G (p.Leu474Arg)
c.948-237T>G (n.948-237T>G)
c.3441+16696A>C (n.3441+16696A>C)
c.*165T>G (n.*165T>G)
c.1340T>G (p.Leu447Arg)
c.276+16696A>C (n.276+16696A>C)
c.*220+5848T>G (n.*220+5848T>G)
c.464T>G (p.Leu155Arg)
c.491T>G (p.Leu164Arg)
c.1346T>G (p.Leu449Arg)
c.1160T>G (p.Leu387Arg)
c.1079T>G (p.Leu360Arg)
c.785T>G (p.Leu262Arg)
c.1166T>G (p.Leu389Arg)
 gnomAD v4
2g.48688376A>GCA346747003GTF2A1L,LHCGR,STON1-GTF2A1Lc.1421T>C (p.Leu474Pro)
c.948-237T>C (n.948-237T>C)
c.3441+16696A>G (n.3441+16696A>G)
c.*165T>C (n.*165T>C)
c.1340T>C (p.Leu447Pro)
c.276+16696A>G (n.276+16696A>G)
c.*220+5848T>C (n.*220+5848T>C)
c.464T>C (p.Leu155Pro)
c.491T>C (p.Leu164Pro)
c.1346T>C (p.Leu449Pro)
c.1160T>C (p.Leu387Pro)
c.1079T>C (p.Leu360Pro)
c.785T>C (p.Leu262Pro)
c.1166T>C (p.Leu389Pro)
2g.48688376A>TCA346747004GTF2A1L,LHCGR,STON1-GTF2A1Lc.1421T>A (p.Leu474Gln)
c.948-237T>A (n.948-237T>A)
c.3441+16696A>T (n.3441+16696A>T)
c.*165T>A (n.*165T>A)
c.1340T>A (p.Leu447Gln)
c.276+16696A>T (n.276+16696A>T)
c.*220+5848T>A (n.*220+5848T>A)
c.464T>A (p.Leu155Gln)
c.491T>A (p.Leu164Gln)
c.1346T>A (p.Leu449Gln)
c.1160T>A (p.Leu387Gln)
c.1079T>A (p.Leu360Gln)
c.785T>A (p.Leu262Gln)
c.1166T>A (p.Leu389Gln)
2g.48688377G>ACA426125125GTF2A1L,LHCGR,STON1-GTF2A1Lc.1420C>T (p.Leu474=)
c.948-238C>T (n.948-238C>T)
c.3441+16697G>A (n.3441+16697G>A)
c.*164C>T (n.*164C>T)
c.1339C>T (p.Leu447=)
c.276+16697G>A (n.276+16697G>A)
c.*220+5847C>T (n.*220+5847C>T)
c.463C>T (p.Leu155=)
c.490C>T (p.Leu164=)
c.1345C>T (p.Leu449=)
c.1159C>T (p.Leu387=)
c.1078C>T (p.Leu360=)
c.784C>T (p.Leu262=)
c.1165C>T (p.Leu389=)
2g.48688377G>CCA346747006GTF2A1L,LHCGR,STON1-GTF2A1Lc.1420C>G (p.Leu474Val)
c.948-238C>G (n.948-238C>G)
c.3441+16697G>C (n.3441+16697G>C)
c.*164C>G (n.*164C>G)
c.1339C>G (p.Leu447Val)
c.276+16697G>C (n.276+16697G>C)
c.*220+5847C>G (n.*220+5847C>G)
c.463C>G (p.Leu155Val)
c.490C>G (p.Leu164Val)
c.1345C>G (p.Leu449Val)
c.1159C>G (p.Leu387Val)
c.1078C>G (p.Leu360Val)
c.784C>G (p.Leu262Val)
c.1165C>G (p.Leu389Val)
2g.48688377G>TCA346747007GTF2A1L,LHCGR,STON1-GTF2A1Lc.1420C>A (p.Leu474Met)
c.948-238C>A (n.948-238C>A)
c.3441+16697G>T (n.3441+16697G>T)
c.*164C>A (n.*164C>A)
c.1339C>A (p.Leu447Met)
c.276+16697G>T (n.276+16697G>T)
c.*220+5847C>A (n.*220+5847C>A)
c.463C>A (p.Leu155Met)
c.490C>A (p.Leu164Met)
c.1345C>A (p.Leu449Met)
c.1159C>A (p.Leu387Met)
c.1078C>A (p.Leu360Met)
c.784C>A (p.Leu262Met)
c.1165C>A (p.Leu389Met)
2g.48688378G>ACA426125127GTF2A1L,LHCGR,STON1-GTF2A1Lc.1419C>T (p.His473=)
c.948-239C>T (n.948-239C>T)
c.3441+16698G>A (n.3441+16698G>A)
c.*163C>T (n.*163C>T)
c.1338C>T (p.His446=)
c.276+16698G>A (n.276+16698G>A)
c.*220+5846C>T (n.*220+5846C>T)
c.462C>T (p.His154=)
c.489C>T (p.His163=)
c.1344C>T (p.His448=)
c.1158C>T (p.His386=)
c.1077C>T (p.His359=)
c.783C>T (p.His261=)
c.1164C>T (p.His388=)
2g.48688378G>CCA346747009GTF2A1L,LHCGR,STON1-GTF2A1Lc.1419C>G (p.His473Gln)
c.948-239C>G (n.948-239C>G)
c.3441+16698G>C (n.3441+16698G>C)
c.*163C>G (n.*163C>G)
c.1338C>G (p.His446Gln)
c.276+16698G>C (n.276+16698G>C)
c.*220+5846C>G (n.*220+5846C>G)
c.462C>G (p.His154Gln)
c.489C>G (p.His163Gln)
c.1344C>G (p.His448Gln)
c.1158C>G (p.His386Gln)
c.1077C>G (p.His359Gln)
c.783C>G (p.His261Gln)
c.1164C>G (p.His388Gln)
2g.48688378G>TCA346747010GTF2A1L,LHCGR,STON1-GTF2A1Lc.1419C>A (p.His473Gln)
c.948-239C>A (n.948-239C>A)
c.3441+16698G>T (n.3441+16698G>T)
c.*163C>A (n.*163C>A)
c.1338C>A (p.His446Gln)
c.276+16698G>T (n.276+16698G>T)
c.*220+5846C>A (n.*220+5846C>A)
c.462C>A (p.His154Gln)
c.489C>A (p.His163Gln)
c.1344C>A (p.His448Gln)
c.1158C>A (p.His386Gln)
c.1077C>A (p.His359Gln)
c.783C>A (p.His261Gln)
c.1164C>A (p.His388Gln)
2g.48688379T>ACA346747015GTF2A1L,LHCGR,STON1-GTF2A1Lc.1418A>T (p.His473Leu)
c.948-240A>T (n.948-240A>T)
c.3441+16699T>A (n.3441+16699T>A)
c.*162A>T (n.*162A>T)
c.1337A>T (p.His446Leu)
c.276+16699T>A (n.276+16699T>A)
c.*220+5845A>T (n.*220+5845A>T)
c.461A>T (p.His154Leu)
c.488A>T (p.His163Leu)
c.1343A>T (p.His448Leu)
c.1157A>T (p.His386Leu)
c.1076A>T (p.His359Leu)
c.782A>T (p.His261Leu)
c.1163A>T (p.His388Leu)
2g.48688379T>CCA346747013GTF2A1L,LHCGR,STON1-GTF2A1Lc.1418A>G (p.His473Arg)
c.948-240A>G (n.948-240A>G)
c.3441+16699T>C (n.3441+16699T>C)
c.*162A>G (n.*162A>G)
c.1337A>G (p.His446Arg)
c.276+16699T>C (n.276+16699T>C)
c.*220+5845A>G (n.*220+5845A>G)
c.461A>G (p.His154Arg)
c.488A>G (p.His163Arg)
c.1343A>G (p.His448Arg)
c.1157A>G (p.His386Arg)
c.1076A>G (p.His359Arg)
c.782A>G (p.His261Arg)
c.1163A>G (p.His388Arg)
2g.48688379T>GCA346747011GTF2A1L,LHCGR,STON1-GTF2A1Lc.1418A>C (p.His473Pro)
c.948-240A>C (n.948-240A>C)
c.3441+16699T>G (n.3441+16699T>G)
c.*162A>C (n.*162A>C)
c.1337A>C (p.His446Pro)
c.276+16699T>G (n.276+16699T>G)
c.*220+5845A>C (n.*220+5845A>C)
c.461A>C (p.His154Pro)
c.488A>C (p.His163Pro)
c.1343A>C (p.His448Pro)
c.1157A>C (p.His386Pro)
c.1076A>C (p.His359Pro)
c.782A>C (p.His261Pro)
c.1163A>C (p.His388Pro)
2g.48688380G>ACA1653031GTF2A1L,LHCGR,STON1-GTF2A1Lc.1417C>T (p.His473Tyr)
c.948-241C>T (n.948-241C>T)
c.3441+16700G>A (n.3441+16700G>A)
c.*161C>T (n.*161C>T)
c.1336C>T (p.His446Tyr)
c.276+16700G>A (n.276+16700G>A)
c.*220+5844C>T (n.*220+5844C>T)
c.460C>T (p.His154Tyr)
c.487C>T (p.His163Tyr)
c.1342C>T (p.His448Tyr)
c.1156C>T (p.His386Tyr)
c.1075C>T (p.His359Tyr)
c.781C>T (p.His261Tyr)
c.1162C>T (p.His388Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688380G>CCA346747017GTF2A1L,LHCGR,STON1-GTF2A1Lc.1417C>G (p.His473Asp)
c.948-241C>G (n.948-241C>G)
c.3441+16700G>C (n.3441+16700G>C)
c.*161C>G (n.*161C>G)
c.1336C>G (p.His446Asp)
c.276+16700G>C (n.276+16700G>C)
c.*220+5844C>G (n.*220+5844C>G)
c.460C>G (p.His154Asp)
c.487C>G (p.His163Asp)
c.1342C>G (p.His448Asp)
c.1156C>G (p.His386Asp)
c.1075C>G (p.His359Asp)
c.781C>G (p.His261Asp)
c.1162C>G (p.His388Asp)
2g.48688380G=CA1248601107GTF2A1L,LHCGR,STON1-GTF2A1Lc.1417C= (p.His473=)
c.948-241C= (n.948-241C=)
c.3441+16700G= (n.3441+16700G=)
c.*161C= (n.*161C=)
c.1336C= (p.His446=)
c.276+16700G= (n.276+16700G=)
c.*220+5844C= (n.*220+5844C=)
c.460C= (p.His154=)
c.487C= (p.His163=)
c.1342C= (p.His448=)
c.1156C= (p.His386=)
c.1075C= (p.His359=)
c.781C= (p.His261=)
c.1162C= (p.His388=)
2g.48688380G>TCA346747018GTF2A1L,LHCGR,STON1-GTF2A1Lc.1417C>A (p.His473Asn)
c.948-241C>A (n.948-241C>A)
c.3441+16700G>T (n.3441+16700G>T)
c.*161C>A (n.*161C>A)
c.1336C>A (p.His446Asn)
c.276+16700G>T (n.276+16700G>T)
c.*220+5844C>A (n.*220+5844C>A)
c.460C>A (p.His154Asn)
c.487C>A (p.His163Asn)
c.1342C>A (p.His448Asn)
c.1156C>A (p.His386Asn)
c.1075C>A (p.His359Asn)
c.781C>A (p.His261Asn)
c.1162C>A (p.His388Asn)
2g.48688381A=CA1248601108GTF2A1L,LHCGR,STON1-GTF2A1Lc.1416T= (p.Ile472=)
c.948-242T= (n.948-242T=)
c.3441+16701A= (n.3441+16701A=)
c.*160T= (n.*160T=)
c.1335T= (p.Ile445=)
c.276+16701A= (n.276+16701A=)
c.*220+5843T= (n.*220+5843T=)
c.459T= (p.Ile153=)
c.486T= (p.Ile162=)
c.1341T= (p.Ile447=)
c.1155T= (p.Ile385=)
c.1074T= (p.Ile358=)
c.780T= (p.Ile260=)
c.1161T= (p.Ile387=)
2g.48688381A>CCA346747019GTF2A1L,LHCGR,STON1-GTF2A1Lc.1416T>G (p.Ile472Met)
c.948-242T>G (n.948-242T>G)
c.3441+16701A>C (n.3441+16701A>C)
c.*160T>G (n.*160T>G)
c.1335T>G (p.Ile445Met)
c.276+16701A>C (n.276+16701A>C)
c.*220+5843T>G (n.*220+5843T>G)
c.459T>G (p.Ile153Met)
c.486T>G (p.Ile162Met)
c.1341T>G (p.Ile447Met)
c.1155T>G (p.Ile385Met)
c.1074T>G (p.Ile358Met)
c.780T>G (p.Ile260Met)
c.1161T>G (p.Ile387Met)
2g.48688381A>GCA1653032GTF2A1L,LHCGR,STON1-GTF2A1Lc.1416T>C (p.Ile472=)
c.948-242T>C (n.948-242T>C)
c.3441+16701A>G (n.3441+16701A>G)
c.*160T>C (n.*160T>C)
c.1335T>C (p.Ile445=)
c.276+16701A>G (n.276+16701A>G)
c.*220+5843T>C (n.*220+5843T>C)
c.459T>C (p.Ile153=)
c.486T>C (p.Ile162=)
c.1341T>C (p.Ile447=)
c.1155T>C (p.Ile385=)
c.1074T>C (p.Ile358=)
c.780T>C (p.Ile260=)
c.1161T>C (p.Ile387=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688381A>TCA426125133GTF2A1L,LHCGR,STON1-GTF2A1Lc.1416T>A (p.Ile472=)
c.948-242T>A (n.948-242T>A)
c.3441+16701A>T (n.3441+16701A>T)
c.*160T>A (n.*160T>A)
c.1335T>A (p.Ile445=)
c.276+16701A>T (n.276+16701A>T)
c.*220+5843T>A (n.*220+5843T>A)
c.459T>A (p.Ile153=)
c.486T>A (p.Ile162=)
c.1341T>A (p.Ile447=)
c.1155T>A (p.Ile385=)
c.1074T>A (p.Ile358=)
c.780T>A (p.Ile260=)
c.1161T>A (p.Ile387=)
2g.48688382A>CCA346747026GTF2A1L,LHCGR,STON1-GTF2A1Lc.1415T>G (p.Ile472Ser)
c.948-243T>G (n.948-243T>G)
c.3441+16702A>C (n.3441+16702A>C)
c.*159T>G (n.*159T>G)
c.1334T>G (p.Ile445Ser)
c.276+16702A>C (n.276+16702A>C)
c.*220+5842T>G (n.*220+5842T>G)
c.458T>G (p.Ile153Ser)
c.485T>G (p.Ile162Ser)
c.1340T>G (p.Ile447Ser)
c.1154T>G (p.Ile385Ser)
c.1073T>G (p.Ile358Ser)
c.779T>G (p.Ile260Ser)
c.1160T>G (p.Ile387Ser)
2g.48688382A>GCA346747024GTF2A1L,LHCGR,STON1-GTF2A1Lc.1415T>C (p.Ile472Thr)
c.948-243T>C (n.948-243T>C)
c.3441+16702A>G (n.3441+16702A>G)
c.*159T>C (n.*159T>C)
c.1334T>C (p.Ile445Thr)
c.276+16702A>G (n.276+16702A>G)
c.*220+5842T>C (n.*220+5842T>C)
c.458T>C (p.Ile153Thr)
c.485T>C (p.Ile162Thr)
c.1340T>C (p.Ile447Thr)
c.1154T>C (p.Ile385Thr)
c.1073T>C (p.Ile358Thr)
c.779T>C (p.Ile260Thr)
c.1160T>C (p.Ile387Thr)
 gnomAD v4 COSMIC
2g.48688382A>TCA346747021GTF2A1L,LHCGR,STON1-GTF2A1Lc.1415T>A (p.Ile472Asn)
c.948-243T>A (n.948-243T>A)
c.3441+16702A>T (n.3441+16702A>T)
c.*159T>A (n.*159T>A)
c.1334T>A (p.Ile445Asn)
c.276+16702A>T (n.276+16702A>T)
c.*220+5842T>A (n.*220+5842T>A)
c.458T>A (p.Ile153Asn)
c.485T>A (p.Ile162Asn)
c.1340T>A (p.Ile447Asn)
c.1154T>A (p.Ile385Asn)
c.1073T>A (p.Ile358Asn)
c.779T>A (p.Ile260Asn)
c.1160T>A (p.Ile387Asn)
2g.48688384_48688419delCA2658992085GTF2A1L,LHCGR,STON1-GTF2A1Lc.1380_1415del (p.Thr461_Ile472del)
c.948-278_948-243del (n.948-278_948-243del)
c.3441+16704_3441+16739del (n.3441+16704_3441+16739del)
c.*124_*159del (n.*124_*159del)
c.1299_1334del (p.Thr434_Ile445del)
c.276+16704_276+16739del (n.276+16704_276+16739del)
c.*220+5807_*220+5842del (n.*220+5807_*220+5842del)
c.423_458del (p.Thr142_Ile153del)
c.450_485del (p.Thr151_Ile162del)
c.1305_1340del (p.Thr436_Ile447del)
c.1119_1154del (p.Thr374_Ile385del)
c.1038_1073del (p.Thr347_Ile358del)
c.744_779del (p.Thr249_Ile260del)
c.1125_1160del (p.Thr376_Ile387del)
 gnomAD v4
2g.48688383T>ACA346747028GTF2A1L,LHCGR,STON1-GTF2A1Lc.1414A>T (p.Ile472Phe)
c.948-244A>T (n.948-244A>T)
c.3441+16703T>A (n.3441+16703T>A)
c.*158A>T (n.*158A>T)
c.1333A>T (p.Ile445Phe)
c.276+16703T>A (n.276+16703T>A)
c.*220+5841A>T (n.*220+5841A>T)
c.457A>T (p.Ile153Phe)
c.484A>T (p.Ile162Phe)
c.1339A>T (p.Ile447Phe)
c.1153A>T (p.Ile385Phe)
c.1072A>T (p.Ile358Phe)
c.778A>T (p.Ile260Phe)
c.1159A>T (p.Ile387Phe)
2g.48688383T>CCA1653033GTF2A1L,LHCGR,STON1-GTF2A1Lc.1414A>G (p.Ile472Val)
c.948-244A>G (n.948-244A>G)
c.3441+16703T>C (n.3441+16703T>C)
c.*158A>G (n.*158A>G)
c.1333A>G (p.Ile445Val)
c.276+16703T>C (n.276+16703T>C)
c.*220+5841A>G (n.*220+5841A>G)
c.457A>G (p.Ile153Val)
c.484A>G (p.Ile162Val)
c.1339A>G (p.Ile447Val)
c.1153A>G (p.Ile385Val)
c.1072A>G (p.Ile358Val)
c.778A>G (p.Ile260Val)
c.1159A>G (p.Ile387Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688383T>GCA346747029GTF2A1L,LHCGR,STON1-GTF2A1Lc.1414A>C (p.Ile472Leu)
c.948-244A>C (n.948-244A>C)
c.3441+16703T>G (n.3441+16703T>G)
c.*158A>C (n.*158A>C)
c.1333A>C (p.Ile445Leu)
c.276+16703T>G (n.276+16703T>G)
c.*220+5841A>C (n.*220+5841A>C)
c.457A>C (p.Ile153Leu)
c.484A>C (p.Ile162Leu)
c.1339A>C (p.Ile447Leu)
c.1153A>C (p.Ile385Leu)
c.1072A>C (p.Ile358Leu)
c.778A>C (p.Ile260Leu)
c.1159A>C (p.Ile387Leu)
2g.48688383T=CA1248601109GTF2A1L,LHCGR,STON1-GTF2A1Lc.1414A= (p.Ile472=)
c.948-244A= (n.948-244A=)
c.3441+16703T= (n.3441+16703T=)
c.*158A= (n.*158A=)
c.1333A= (p.Ile445=)
c.276+16703T= (n.276+16703T=)
c.*220+5841A= (n.*220+5841A=)
c.457A= (p.Ile153=)
c.484A= (p.Ile162=)
c.1339A= (p.Ile447=)
c.1153A= (p.Ile385=)
c.1072A= (p.Ile358=)
c.778A= (p.Ile260=)
c.1159A= (p.Ile387=)
2g.48688384A>CCA426125135GTF2A1L,LHCGR,STON1-GTF2A1Lc.1413T>G (p.Ala471=)
c.948-245T>G (n.948-245T>G)
c.3441+16704A>C (n.3441+16704A>C)
c.*157T>G (n.*157T>G)
c.1332T>G (p.Ala444=)
c.276+16704A>C (n.276+16704A>C)
c.*220+5840T>G (n.*220+5840T>G)
c.456T>G (p.Ala152=)
c.483T>G (p.Ala161=)
c.1338T>G (p.Ala446=)
c.1152T>G (p.Ala384=)
c.1071T>G (p.Ala357=)
c.777T>G (p.Ala259=)
c.1158T>G (p.Ala386=)
2g.48688384A>GCA426125136GTF2A1L,LHCGR,STON1-GTF2A1Lc.1413T>C (p.Ala471=)
c.948-245T>C (n.948-245T>C)
c.3441+16704A>G (n.3441+16704A>G)
c.*157T>C (n.*157T>C)
c.1332T>C (p.Ala444=)
c.276+16704A>G (n.276+16704A>G)
c.*220+5840T>C (n.*220+5840T>C)
c.456T>C (p.Ala152=)
c.483T>C (p.Ala161=)
c.1338T>C (p.Ala446=)
c.1152T>C (p.Ala384=)
c.1071T>C (p.Ala357=)
c.777T>C (p.Ala259=)
c.1158T>C (p.Ala386=)
 gnomAD v4
2g.48688384A>TCA426125137GTF2A1L,LHCGR,STON1-GTF2A1Lc.1413T>A (p.Ala471=)
c.948-245T>A (n.948-245T>A)
c.3441+16704A>T (n.3441+16704A>T)
c.*157T>A (n.*157T>A)
c.1332T>A (p.Ala444=)
c.276+16704A>T (n.276+16704A>T)
c.*220+5840T>A (n.*220+5840T>A)
c.456T>A (p.Ala152=)
c.483T>A (p.Ala161=)
c.1338T>A (p.Ala446=)
c.1152T>A (p.Ala384=)
c.1071T>A (p.Ala357=)
c.777T>A (p.Ala259=)
c.1158T>A (p.Ala386=)
2g.48688385G>ACA346747033GTF2A1L,LHCGR,STON1-GTF2A1Lc.1412C>T (p.Ala471Val)
c.948-246C>T (n.948-246C>T)
c.3441+16705G>A (n.3441+16705G>A)
c.*156C>T (n.*156C>T)
c.1331C>T (p.Ala444Val)
c.276+16705G>A (n.276+16705G>A)
c.*220+5839C>T (n.*220+5839C>T)
c.455C>T (p.Ala152Val)
c.482C>T (p.Ala161Val)
c.1337C>T (p.Ala446Val)
c.1151C>T (p.Ala384Val)
c.1070C>T (p.Ala357Val)
c.776C>T (p.Ala259Val)
c.1157C>T (p.Ala386Val)
 dbSNP gnomAD v3 gnomAD v4
2g.48688385G>CCA346747034GTF2A1L,LHCGR,STON1-GTF2A1Lc.1412C>G (p.Ala471Gly)
c.948-246C>G (n.948-246C>G)
c.3441+16705G>C (n.3441+16705G>C)
c.*156C>G (n.*156C>G)
c.1331C>G (p.Ala444Gly)
c.276+16705G>C (n.276+16705G>C)
c.*220+5839C>G (n.*220+5839C>G)
c.455C>G (p.Ala152Gly)
c.482C>G (p.Ala161Gly)
c.1337C>G (p.Ala446Gly)
c.1151C>G (p.Ala384Gly)
c.1070C>G (p.Ala357Gly)
c.776C>G (p.Ala259Gly)
c.1157C>G (p.Ala386Gly)
2g.48688385G=CA1248601110GTF2A1L,LHCGR,STON1-GTF2A1Lc.1412C= (p.Ala471=)
c.948-246C= (n.948-246C=)
c.3441+16705G= (n.3441+16705G=)
c.*156C= (n.*156C=)
c.1331C= (p.Ala444=)
c.276+16705G= (n.276+16705G=)
c.*220+5839C= (n.*220+5839C=)
c.455C= (p.Ala152=)
c.482C= (p.Ala161=)
c.1337C= (p.Ala446=)
c.1151C= (p.Ala384=)
c.1070C= (p.Ala357=)
c.776C= (p.Ala259=)
c.1157C= (p.Ala386=)
2g.48688385G>TCA346747035GTF2A1L,LHCGR,STON1-GTF2A1Lc.1412C>A (p.Ala471Asp)
c.948-246C>A (n.948-246C>A)
c.3441+16705G>T (n.3441+16705G>T)
c.*156C>A (n.*156C>A)
c.1331C>A (p.Ala444Asp)
c.276+16705G>T (n.276+16705G>T)
c.*220+5839C>A (n.*220+5839C>A)
c.455C>A (p.Ala152Asp)
c.482C>A (p.Ala161Asp)
c.1337C>A (p.Ala446Asp)
c.1151C>A (p.Ala384Asp)
c.1070C>A (p.Ala357Asp)
c.776C>A (p.Ala259Asp)
c.1157C>A (p.Ala386Asp)
2g.48688386C>ACA346747036GTF2A1L,LHCGR,STON1-GTF2A1Lc.1411G>T (p.Ala471Ser)
c.948-247G>T (n.948-247G>T)
c.3441+16706C>A (n.3441+16706C>A)
c.*155G>T (n.*155G>T)
c.1330G>T (p.Ala444Ser)
c.276+16706C>A (n.276+16706C>A)
c.*220+5838G>T (n.*220+5838G>T)
c.454G>T (p.Ala152Ser)
c.481G>T (p.Ala161Ser)
c.1336G>T (p.Ala446Ser)
c.1150G>T (p.Ala384Ser)
c.1069G>T (p.Ala357Ser)
c.775G>T (p.Ala259Ser)
c.1156G>T (p.Ala386Ser)
2g.48688386C>GCA346747039GTF2A1L,LHCGR,STON1-GTF2A1Lc.1411G>C (p.Ala471Pro)
c.948-247G>C (n.948-247G>C)
c.3441+16706C>G (n.3441+16706C>G)
c.*155G>C (n.*155G>C)
c.1330G>C (p.Ala444Pro)
c.276+16706C>G (n.276+16706C>G)
c.*220+5838G>C (n.*220+5838G>C)
c.454G>C (p.Ala152Pro)
c.481G>C (p.Ala161Pro)
c.1336G>C (p.Ala446Pro)
c.1150G>C (p.Ala384Pro)
c.1069G>C (p.Ala357Pro)
c.775G>C (p.Ala259Pro)
c.1156G>C (p.Ala386Pro)
2g.48688386C>TCA346747037GTF2A1L,LHCGR,STON1-GTF2A1Lc.1411G>A (p.Ala471Thr)
c.948-247G>A (n.948-247G>A)
c.3441+16706C>T (n.3441+16706C>T)
c.*155G>A (n.*155G>A)
c.1330G>A (p.Ala444Thr)
c.276+16706C>T (n.276+16706C>T)
c.*220+5838G>A (n.*220+5838G>A)
c.454G>A (p.Ala152Thr)
c.481G>A (p.Ala161Thr)
c.1336G>A (p.Ala446Thr)
c.1150G>A (p.Ala384Thr)
c.1069G>A (p.Ala357Thr)
c.775G>A (p.Ala259Thr)
c.1156G>A (p.Ala386Thr)
2g.48688387A=CA1248601111GTF2A1L,LHCGR,STON1-GTF2A1Lc.1410T= (p.Tyr470=)
c.948-248T= (n.948-248T=)
c.3441+16707A= (n.3441+16707A=)
c.*154T= (n.*154T=)
c.1329T= (p.Tyr443=)
c.276+16707A= (n.276+16707A=)
c.*220+5837T= (n.*220+5837T=)
c.453T= (p.Tyr151=)
c.480T= (p.Tyr160=)
c.1335T= (p.Tyr445=)
c.1149T= (p.Tyr383=)
c.1068T= (p.Tyr356=)
c.774T= (p.Tyr258=)
c.1155T= (p.Tyr385=)
2g.48688387A>CCA346747040GTF2A1L,LHCGR,STON1-GTF2A1Lc.1410T>G (p.Tyr470Ter)
c.948-248T>G (n.948-248T>G)
c.3441+16707A>C (n.3441+16707A>C)
c.*154T>G (n.*154T>G)
c.1329T>G (p.Tyr443Ter)
c.276+16707A>C (n.276+16707A>C)
c.*220+5837T>G (n.*220+5837T>G)
c.453T>G (p.Tyr151Ter)
c.480T>G (p.Tyr160Ter)
c.1335T>G (p.Tyr445Ter)
c.1149T>G (p.Tyr383Ter)
c.1068T>G (p.Tyr356Ter)
c.774T>G (p.Tyr258Ter)
c.1155T>G (p.Tyr385Ter)
2g.48688387A>GCA426125141GTF2A1L,LHCGR,STON1-GTF2A1Lc.1410T>C (p.Tyr470=)
c.948-248T>C (n.948-248T>C)
c.3441+16707A>G (n.3441+16707A>G)
c.*154T>C (n.*154T>C)
c.1329T>C (p.Tyr443=)
c.276+16707A>G (n.276+16707A>G)
c.*220+5837T>C (n.*220+5837T>C)
c.453T>C (p.Tyr151=)
c.480T>C (p.Tyr160=)
c.1335T>C (p.Tyr445=)
c.1149T>C (p.Tyr383=)
c.1068T>C (p.Tyr356=)
c.774T>C (p.Tyr258=)
c.1155T>C (p.Tyr385=)
 dbSNP gnomAD v3 gnomAD v4
2g.48688387A>TCA346747042GTF2A1L,LHCGR,STON1-GTF2A1Lc.1410T>A (p.Tyr470Ter)
c.948-248T>A (n.948-248T>A)
c.3441+16707A>T (n.3441+16707A>T)
c.*154T>A (n.*154T>A)
c.1329T>A (p.Tyr443Ter)
c.276+16707A>T (n.276+16707A>T)
c.*220+5837T>A (n.*220+5837T>A)
c.453T>A (p.Tyr151Ter)
c.480T>A (p.Tyr160Ter)
c.1335T>A (p.Tyr445Ter)
c.1149T>A (p.Tyr383Ter)
c.1068T>A (p.Tyr356Ter)
c.774T>A (p.Tyr258Ter)
c.1155T>A (p.Tyr385Ter)
2g.48688388T>ACA346747044GTF2A1L,LHCGR,STON1-GTF2A1Lc.1409A>T (p.Tyr470Phe)
c.948-249A>T (n.948-249A>T)
c.3441+16708T>A (n.3441+16708T>A)
c.*153A>T (n.*153A>T)
c.1328A>T (p.Tyr443Phe)
c.276+16708T>A (n.276+16708T>A)
c.*220+5836A>T (n.*220+5836A>T)
c.452A>T (p.Tyr151Phe)
c.479A>T (p.Tyr160Phe)
c.1334A>T (p.Tyr445Phe)
c.1148A>T (p.Tyr383Phe)
c.1067A>T (p.Tyr356Phe)
c.773A>T (p.Tyr258Phe)
c.1154A>T (p.Tyr385Phe)
2g.48688388T>CCA46752990GTF2A1L,LHCGR,STON1-GTF2A1Lc.1409A>G (p.Tyr470Cys)
c.948-249A>G (n.948-249A>G)
c.3441+16708T>C (n.3441+16708T>C)
c.*153A>G (n.*153A>G)
c.1328A>G (p.Tyr443Cys)
c.276+16708T>C (n.276+16708T>C)
c.*220+5836A>G (n.*220+5836A>G)
c.452A>G (p.Tyr151Cys)
c.479A>G (p.Tyr160Cys)
c.1334A>G (p.Tyr445Cys)
c.1148A>G (p.Tyr383Cys)
c.1067A>G (p.Tyr356Cys)
c.773A>G (p.Tyr258Cys)
c.1154A>G (p.Tyr385Cys)
 dbSNP gnomAD v2 gnomAD v4
2g.48688388T>GCA346747045GTF2A1L,LHCGR,STON1-GTF2A1Lc.1409A>C (p.Tyr470Ser)
c.948-249A>C (n.948-249A>C)
c.3441+16708T>G (n.3441+16708T>G)
c.*153A>C (n.*153A>C)
c.1328A>C (p.Tyr443Ser)
c.276+16708T>G (n.276+16708T>G)
c.*220+5836A>C (n.*220+5836A>C)
c.452A>C (p.Tyr151Ser)
c.479A>C (p.Tyr160Ser)
c.1334A>C (p.Tyr445Ser)
c.1148A>C (p.Tyr383Ser)
c.1067A>C (p.Tyr356Ser)
c.773A>C (p.Tyr258Ser)
c.1154A>C (p.Tyr385Ser)
2g.48688388T=CA1248601112GTF2A1L,LHCGR,STON1-GTF2A1Lc.1409A= (p.Tyr470=)
c.948-249A= (n.948-249A=)
c.3441+16708T= (n.3441+16708T=)
c.*153A= (n.*153A=)
c.1328A= (p.Tyr443=)
c.276+16708T= (n.276+16708T=)
c.*220+5836A= (n.*220+5836A=)
c.452A= (p.Tyr151=)
c.479A= (p.Tyr160=)
c.1334A= (p.Tyr445=)
c.1148A= (p.Tyr383=)
c.1067A= (p.Tyr356=)
c.773A= (p.Tyr258=)
c.1154A= (p.Tyr385=)
2g.48688389A=CA1248601113GTF2A1L,LHCGR,STON1-GTF2A1Lc.1408T= (p.Tyr470=)
c.948-250T= (n.948-250T=)
c.3441+16709A= (n.3441+16709A=)
c.*152T= (n.*152T=)
c.1327T= (p.Tyr443=)
c.276+16709A= (n.276+16709A=)
c.*220+5835T= (n.*220+5835T=)
c.451T= (p.Tyr151=)
c.478T= (p.Tyr160=)
c.1333T= (p.Tyr445=)
c.1147T= (p.Tyr383=)
c.1066T= (p.Tyr356=)
c.772T= (p.Tyr258=)
c.1153T= (p.Tyr385=)
2g.48688389A>CCA346747047GTF2A1L,LHCGR,STON1-GTF2A1Lc.1408T>G (p.Tyr470Asp)
c.948-250T>G (n.948-250T>G)
c.3441+16709A>C (n.3441+16709A>C)
c.*152T>G (n.*152T>G)
c.1327T>G (p.Tyr443Asp)
c.276+16709A>C (n.276+16709A>C)
c.*220+5835T>G (n.*220+5835T>G)
c.451T>G (p.Tyr151Asp)
c.478T>G (p.Tyr160Asp)
c.1333T>G (p.Tyr445Asp)
c.1147T>G (p.Tyr383Asp)
c.1066T>G (p.Tyr356Asp)
c.772T>G (p.Tyr258Asp)
c.1153T>G (p.Tyr385Asp)
2g.48688389A>GCA1653034GTF2A1L,LHCGR,STON1-GTF2A1Lc.1408T>C (p.Tyr470His)
c.948-250T>C (n.948-250T>C)
c.3441+16709A>G (n.3441+16709A>G)
c.*152T>C (n.*152T>C)
c.1327T>C (p.Tyr443His)
c.276+16709A>G (n.276+16709A>G)
c.*220+5835T>C (n.*220+5835T>C)
c.451T>C (p.Tyr151His)
c.478T>C (p.Tyr160His)
c.1333T>C (p.Tyr445His)
c.1147T>C (p.Tyr383His)
c.1066T>C (p.Tyr356His)
c.772T>C (p.Tyr258His)
c.1153T>C (p.Tyr385His)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688389A>TCA346747050GTF2A1L,LHCGR,STON1-GTF2A1Lc.1408T>A (p.Tyr470Asn)
c.948-250T>A (n.948-250T>A)
c.3441+16709A>T (n.3441+16709A>T)
c.*152T>A (n.*152T>A)
c.1327T>A (p.Tyr443Asn)
c.276+16709A>T (n.276+16709A>T)
c.*220+5835T>A (n.*220+5835T>A)
c.451T>A (p.Tyr151Asn)
c.478T>A (p.Tyr160Asn)
c.1333T>A (p.Tyr445Asn)
c.1147T>A (p.Tyr383Asn)
c.1066T>A (p.Tyr356Asn)
c.772T>A (p.Tyr258Asn)
c.1153T>A (p.Tyr385Asn)
2g.48688390G>ACA426125146GTF2A1L,LHCGR,STON1-GTF2A1Lc.1407C>T (p.Thr469=)
c.948-251C>T (n.948-251C>T)
c.3441+16710G>A (n.3441+16710G>A)
c.*151C>T (n.*151C>T)
c.1326C>T (p.Thr442=)
c.276+16710G>A (n.276+16710G>A)
c.*220+5834C>T (n.*220+5834C>T)
c.450C>T (p.Thr150=)
c.477C>T (p.Thr159=)
c.1332C>T (p.Thr444=)
c.1146C>T (p.Thr382=)
c.1065C>T (p.Thr355=)
c.771C>T (p.Thr257=)
c.1152C>T (p.Thr384=)
2g.48688390G>CCA426125147GTF2A1L,LHCGR,STON1-GTF2A1Lc.1407C>G (p.Thr469=)
c.948-251C>G (n.948-251C>G)
c.3441+16710G>C (n.3441+16710G>C)
c.*151C>G (n.*151C>G)
c.1326C>G (p.Thr442=)
c.276+16710G>C (n.276+16710G>C)
c.*220+5834C>G (n.*220+5834C>G)
c.450C>G (p.Thr150=)
c.477C>G (p.Thr159=)
c.1332C>G (p.Thr444=)
c.1146C>G (p.Thr382=)
c.1065C>G (p.Thr355=)
c.771C>G (p.Thr257=)
c.1152C>G (p.Thr384=)
2g.48688390G>TCA426125148GTF2A1L,LHCGR,STON1-GTF2A1Lc.1407C>A (p.Thr469=)
c.948-251C>A (n.948-251C>A)
c.3441+16710G>T (n.3441+16710G>T)
c.*151C>A (n.*151C>A)
c.1326C>A (p.Thr442=)
c.276+16710G>T (n.276+16710G>T)
c.*220+5834C>A (n.*220+5834C>A)
c.450C>A (p.Thr150=)
c.477C>A (p.Thr159=)
c.1332C>A (p.Thr444=)
c.1146C>A (p.Thr382=)
c.1065C>A (p.Thr355=)
c.771C>A (p.Thr257=)
c.1152C>A (p.Thr384=)
2g.48688391G>ACA346747051GTF2A1L,LHCGR,STON1-GTF2A1Lc.1406C>T (p.Thr469Ile)
c.948-252C>T (n.948-252C>T)
c.3441+16711G>A (n.3441+16711G>A)
c.*150C>T (n.*150C>T)
c.1325C>T (p.Thr442Ile)
c.276+16711G>A (n.276+16711G>A)
c.*220+5833C>T (n.*220+5833C>T)
c.449C>T (p.Thr150Ile)
c.476C>T (p.Thr159Ile)
c.1331C>T (p.Thr444Ile)
c.1145C>T (p.Thr382Ile)
c.1064C>T (p.Thr355Ile)
c.770C>T (p.Thr257Ile)
c.1151C>T (p.Thr384Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48688391G>CCA346747052GTF2A1L,LHCGR,STON1-GTF2A1Lc.1406C>G (p.Thr469Ser)
c.948-252C>G (n.948-252C>G)
c.3441+16711G>C (n.3441+16711G>C)
c.*150C>G (n.*150C>G)
c.1325C>G (p.Thr442Ser)
c.276+16711G>C (n.276+16711G>C)
c.*220+5833C>G (n.*220+5833C>G)
c.449C>G (p.Thr150Ser)
c.476C>G (p.Thr159Ser)
c.1331C>G (p.Thr444Ser)
c.1145C>G (p.Thr382Ser)
c.1064C>G (p.Thr355Ser)
c.770C>G (p.Thr257Ser)
c.1151C>G (p.Thr384Ser)
2g.48688391G=CA1248601114GTF2A1L,LHCGR,STON1-GTF2A1Lc.1406C= (p.Thr469=)
c.948-252C= (n.948-252C=)
c.3441+16711G= (n.3441+16711G=)
c.*150C= (n.*150C=)
c.1325C= (p.Thr442=)
c.276+16711G= (n.276+16711G=)
c.*220+5833C= (n.*220+5833C=)
c.449C= (p.Thr150=)
c.476C= (p.Thr159=)
c.1331C= (p.Thr444=)
c.1145C= (p.Thr382=)
c.1064C= (p.Thr355=)
c.770C= (p.Thr257=)
c.1151C= (p.Thr384=)
2g.48688391G>TCA346747053GTF2A1L,LHCGR,STON1-GTF2A1Lc.1406C>A (p.Thr469Asn)
c.948-252C>A (n.948-252C>A)
c.3441+16711G>T (n.3441+16711G>T)
c.*150C>A (n.*150C>A)
c.1325C>A (p.Thr442Asn)
c.276+16711G>T (n.276+16711G>T)
c.*220+5833C>A (n.*220+5833C>A)
c.449C>A (p.Thr150Asn)
c.476C>A (p.Thr159Asn)
c.1331C>A (p.Thr444Asn)
c.1145C>A (p.Thr382Asn)
c.1064C>A (p.Thr355Asn)
c.770C>A (p.Thr257Asn)
c.1151C>A (p.Thr384Asn)
 dbSNP gnomAD v4
2g.48688392T>ACA346747056GTF2A1L,LHCGR,STON1-GTF2A1Lc.1405A>T (p.Thr469Ser)
c.948-253A>T (n.948-253A>T)
c.3441+16712T>A (n.3441+16712T>A)
c.*149A>T (n.*149A>T)
c.1324A>T (p.Thr442Ser)
c.276+16712T>A (n.276+16712T>A)
c.*220+5832A>T (n.*220+5832A>T)
c.448A>T (p.Thr150Ser)
c.475A>T (p.Thr159Ser)
c.1330A>T (p.Thr444Ser)
c.1144A>T (p.Thr382Ser)
c.1063A>T (p.Thr355Ser)
c.769A>T (p.Thr257Ser)
c.1150A>T (p.Thr384Ser)
2g.48688392T>CCA346747057GTF2A1L,LHCGR,STON1-GTF2A1Lc.1405A>G (p.Thr469Ala)
c.948-253A>G (n.948-253A>G)
c.3441+16712T>C (n.3441+16712T>C)
c.*149A>G (n.*149A>G)
c.1324A>G (p.Thr442Ala)
c.276+16712T>C (n.276+16712T>C)
c.*220+5832A>G (n.*220+5832A>G)
c.448A>G (p.Thr150Ala)
c.475A>G (p.Thr159Ala)
c.1330A>G (p.Thr444Ala)
c.1144A>G (p.Thr382Ala)
c.1063A>G (p.Thr355Ala)
c.769A>G (p.Thr257Ala)
c.1150A>G (p.Thr384Ala)
 gnomAD v4
2g.48688392T>GCA346747055GTF2A1L,LHCGR,STON1-GTF2A1Lc.1405A>C (p.Thr469Pro)
c.948-253A>C (n.948-253A>C)
c.3441+16712T>G (n.3441+16712T>G)
c.*149A>C (n.*149A>C)
c.1324A>C (p.Thr442Pro)
c.276+16712T>G (n.276+16712T>G)
c.*220+5832A>C (n.*220+5832A>C)
c.448A>C (p.Thr150Pro)
c.475A>C (p.Thr159Pro)
c.1330A>C (p.Thr444Pro)
c.1144A>C (p.Thr382Pro)
c.1063A>C (p.Thr355Pro)
c.769A>C (p.Thr257Pro)
c.1150A>C (p.Thr384Pro)
2g.48688393G>ACA426125162GTF2A1L,LHCGR,STON1-GTF2A1Lc.1404C>T (p.Ile468=)
c.948-254C>T (n.948-254C>T)
c.3441+16713G>A (n.3441+16713G>A)
c.*148C>T (n.*148C>T)
c.1323C>T (p.Ile441=)
c.276+16713G>A (n.276+16713G>A)
c.*220+5831C>T (n.*220+5831C>T)
c.447C>T (p.Ile149=)
c.474C>T (p.Ile158=)
c.1329C>T (p.Ile443=)
c.1143C>T (p.Ile381=)
c.1062C>T (p.Ile354=)
c.768C>T (p.Ile256=)
c.1149C>T (p.Ile383=)
 dbSNP
2g.48688393G>CCA346747059GTF2A1L,LHCGR,STON1-GTF2A1Lc.1404C>G (p.Ile468Met)
c.948-254C>G (n.948-254C>G)
c.3441+16713G>C (n.3441+16713G>C)
c.*148C>G (n.*148C>G)
c.1323C>G (p.Ile441Met)
c.276+16713G>C (n.276+16713G>C)
c.*220+5831C>G (n.*220+5831C>G)
c.447C>G (p.Ile149Met)
c.474C>G (p.Ile158Met)
c.1329C>G (p.Ile443Met)
c.1143C>G (p.Ile381Met)
c.1062C>G (p.Ile354Met)
c.768C>G (p.Ile256Met)
c.1149C>G (p.Ile383Met)
2g.48688393G=CA1248601115GTF2A1L,LHCGR,STON1-GTF2A1Lc.1404C= (p.Ile468=)
c.948-254C= (n.948-254C=)
c.3441+16713G= (n.3441+16713G=)
c.*148C= (n.*148C=)
c.1323C= (p.Ile441=)
c.276+16713G= (n.276+16713G=)
c.*220+5831C= (n.*220+5831C=)
c.447C= (p.Ile149=)
c.474C= (p.Ile158=)
c.1329C= (p.Ile443=)
c.1143C= (p.Ile381=)
c.1062C= (p.Ile354=)
c.768C= (p.Ile256=)
c.1149C= (p.Ile383=)
2g.48688393G>TCA426125154GTF2A1L,LHCGR,STON1-GTF2A1Lc.1404C>A (p.Ile468=)
c.948-254C>A (n.948-254C>A)
c.3441+16713G>T (n.3441+16713G>T)
c.*148C>A (n.*148C>A)
c.1323C>A (p.Ile441=)
c.276+16713G>T (n.276+16713G>T)
c.*220+5831C>A (n.*220+5831C>A)
c.447C>A (p.Ile149=)
c.474C>A (p.Ile158=)
c.1329C>A (p.Ile443=)
c.1143C>A (p.Ile381=)
c.1062C>A (p.Ile354=)
c.768C>A (p.Ile256=)
c.1149C>A (p.Ile383=)
2g.48688394A>CCA346747062GTF2A1L,LHCGR,STON1-GTF2A1Lc.1403T>G (p.Ile468Ser)
c.948-255T>G (n.948-255T>G)
c.3441+16714A>C (n.3441+16714A>C)
c.*147T>G (n.*147T>G)
c.1322T>G (p.Ile441Ser)
c.276+16714A>C (n.276+16714A>C)
c.*220+5830T>G (n.*220+5830T>G)
c.446T>G (p.Ile149Ser)
c.473T>G (p.Ile158Ser)
c.1328T>G (p.Ile443Ser)
c.1142T>G (p.Ile381Ser)
c.1061T>G (p.Ile354Ser)
c.767T>G (p.Ile256Ser)
c.1148T>G (p.Ile383Ser)
2g.48688394A>GCA346747064GTF2A1L,LHCGR,STON1-GTF2A1Lc.1403T>C (p.Ile468Thr)
c.948-255T>C (n.948-255T>C)
c.3441+16714A>G (n.3441+16714A>G)
c.*147T>C (n.*147T>C)
c.1322T>C (p.Ile441Thr)
c.276+16714A>G (n.276+16714A>G)
c.*220+5830T>C (n.*220+5830T>C)
c.446T>C (p.Ile149Thr)
c.473T>C (p.Ile158Thr)
c.1328T>C (p.Ile443Thr)
c.1142T>C (p.Ile381Thr)
c.1061T>C (p.Ile354Thr)
c.767T>C (p.Ile256Thr)
c.1148T>C (p.Ile383Thr)
2g.48688394A>TCA346747063GTF2A1L,LHCGR,STON1-GTF2A1Lc.1403T>A (p.Ile468Asn)
c.948-255T>A (n.948-255T>A)
c.3441+16714A>T (n.3441+16714A>T)
c.*147T>A (n.*147T>A)
c.1322T>A (p.Ile441Asn)
c.276+16714A>T (n.276+16714A>T)
c.*220+5830T>A (n.*220+5830T>A)
c.446T>A (p.Ile149Asn)
c.473T>A (p.Ile158Asn)
c.1328T>A (p.Ile443Asn)
c.1142T>A (p.Ile381Asn)
c.1061T>A (p.Ile354Asn)
c.767T>A (p.Ile256Asn)
c.1148T>A (p.Ile383Asn)
2g.48688395T>ACA346747066GTF2A1L,LHCGR,STON1-GTF2A1Lc.1402A>T (p.Ile468Phe)
c.948-256A>T (n.948-256A>T)
c.3441+16715T>A (n.3441+16715T>A)
c.*146A>T (n.*146A>T)
c.1321A>T (p.Ile441Phe)
c.276+16715T>A (n.276+16715T>A)
c.*220+5829A>T (n.*220+5829A>T)
c.445A>T (p.Ile149Phe)
c.472A>T (p.Ile158Phe)
c.1327A>T (p.Ile443Phe)
c.1141A>T (p.Ile381Phe)
c.1060A>T (p.Ile354Phe)
c.766A>T (p.Ile256Phe)
c.1147A>T (p.Ile383Phe)
2g.48688395T>CCA346747067GTF2A1L,LHCGR,STON1-GTF2A1Lc.1402A>G (p.Ile468Val)
c.948-256A>G (n.948-256A>G)
c.3441+16715T>C (n.3441+16715T>C)
c.*146A>G (n.*146A>G)
c.1321A>G (p.Ile441Val)
c.276+16715T>C (n.276+16715T>C)
c.*220+5829A>G (n.*220+5829A>G)
c.445A>G (p.Ile149Val)
c.472A>G (p.Ile158Val)
c.1327A>G (p.Ile443Val)
c.1141A>G (p.Ile381Val)
c.1060A>G (p.Ile354Val)
c.766A>G (p.Ile256Val)
c.1147A>G (p.Ile383Val)
2g.48688395T>GCA346747069GTF2A1L,LHCGR,STON1-GTF2A1Lc.1402A>C (p.Ile468Leu)
c.948-256A>C (n.948-256A>C)
c.3441+16715T>G (n.3441+16715T>G)
c.*146A>C (n.*146A>C)
c.1321A>C (p.Ile441Leu)
c.276+16715T>G (n.276+16715T>G)
c.*220+5829A>C (n.*220+5829A>C)
c.445A>C (p.Ile149Leu)
c.472A>C (p.Ile158Leu)
c.1327A>C (p.Ile443Leu)
c.1141A>C (p.Ile381Leu)
c.1060A>C (p.Ile354Leu)
c.766A>C (p.Ile256Leu)
c.1147A>C (p.Ile383Leu)
2g.48688396G>ACA426125169GTF2A1L,LHCGR,STON1-GTF2A1Lc.1401C>T (p.Thr467=)
c.948-257C>T (n.948-257C>T)
c.3441+16716G>A (n.3441+16716G>A)
c.*145C>T (n.*145C>T)
c.1320C>T (p.Thr440=)
c.276+16716G>A (n.276+16716G>A)
c.*220+5828C>T (n.*220+5828C>T)
c.444C>T (p.Thr148=)
c.471C>T (p.Thr157=)
c.1326C>T (p.Thr442=)
c.1140C>T (p.Thr380=)
c.1059C>T (p.Thr353=)
c.765C>T (p.Thr255=)
c.1146C>T (p.Thr382=)
2g.48688396G>CCA426125171GTF2A1L,LHCGR,STON1-GTF2A1Lc.1401C>G (p.Thr467=)
c.948-257C>G (n.948-257C>G)
c.3441+16716G>C (n.3441+16716G>C)
c.*145C>G (n.*145C>G)
c.1320C>G (p.Thr440=)
c.276+16716G>C (n.276+16716G>C)
c.*220+5828C>G (n.*220+5828C>G)
c.444C>G (p.Thr148=)
c.471C>G (p.Thr157=)
c.1326C>G (p.Thr442=)
c.1140C>G (p.Thr380=)
c.1059C>G (p.Thr353=)
c.765C>G (p.Thr255=)
c.1146C>G (p.Thr382=)
2g.48688396G=CA1248601116GTF2A1L,LHCGR,STON1-GTF2A1Lc.1401C= (p.Thr467=)
c.948-257C= (n.948-257C=)
c.3441+16716G= (n.3441+16716G=)
c.*145C= (n.*145C=)
c.1320C= (p.Thr440=)
c.276+16716G= (n.276+16716G=)
c.*220+5828C= (n.*220+5828C=)
c.444C= (p.Thr148=)
c.471C= (p.Thr157=)
c.1326C= (p.Thr442=)
c.1140C= (p.Thr380=)
c.1059C= (p.Thr353=)
c.765C= (p.Thr255=)
c.1146C= (p.Thr382=)
2g.48688396G>TCA426125172GTF2A1L,LHCGR,STON1-GTF2A1Lc.1401C>A (p.Thr467=)
c.948-257C>A (n.948-257C>A)
c.3441+16716G>T (n.3441+16716G>T)
c.*145C>A (n.*145C>A)
c.1320C>A (p.Thr440=)
c.276+16716G>T (n.276+16716G>T)
c.*220+5828C>A (n.*220+5828C>A)
c.444C>A (p.Thr148=)
c.471C>A (p.Thr157=)
c.1326C>A (p.Thr442=)
c.1140C>A (p.Thr380=)
c.1059C>A (p.Thr353=)
c.765C>A (p.Thr255=)
c.1146C>A (p.Thr382=)
 dbSNP gnomAD v2 gnomAD v4
2g.48688397G>ACA46752991GTF2A1L,LHCGR,STON1-GTF2A1Lc.1400C>T (p.Thr467Ile)
c.948-258C>T (n.948-258C>T)
c.3441+16717G>A (n.3441+16717G>A)
c.*144C>T (n.*144C>T)
c.1319C>T (p.Thr440Ile)
c.276+16717G>A (n.276+16717G>A)
c.*220+5827C>T (n.*220+5827C>T)
c.443C>T (p.Thr148Ile)
c.470C>T (p.Thr157Ile)
c.1325C>T (p.Thr442Ile)
c.1139C>T (p.Thr380Ile)
c.1058C>T (p.Thr353Ile)
c.764C>T (p.Thr255Ile)
c.1145C>T (p.Thr382Ile)
 dbSNP COSMIC
2g.48688397G>CCA346747073GTF2A1L,LHCGR,STON1-GTF2A1Lc.1400C>G (p.Thr467Ser)
c.948-258C>G (n.948-258C>G)
c.3441+16717G>C (n.3441+16717G>C)
c.*144C>G (n.*144C>G)
c.1319C>G (p.Thr440Ser)
c.276+16717G>C (n.276+16717G>C)
c.*220+5827C>G (n.*220+5827C>G)
c.443C>G (p.Thr148Ser)
c.470C>G (p.Thr157Ser)
c.1325C>G (p.Thr442Ser)
c.1139C>G (p.Thr380Ser)
c.1058C>G (p.Thr353Ser)
c.764C>G (p.Thr255Ser)
c.1145C>G (p.Thr382Ser)
2g.48688397G=CA1248601117GTF2A1L,LHCGR,STON1-GTF2A1Lc.1400C= (p.Thr467=)
c.948-258C= (n.948-258C=)
c.3441+16717G= (n.3441+16717G=)
c.*144C= (n.*144C=)
c.1319C= (p.Thr440=)
c.276+16717G= (n.276+16717G=)
c.*220+5827C= (n.*220+5827C=)
c.443C= (p.Thr148=)
c.470C= (p.Thr157=)
c.1325C= (p.Thr442=)
c.1139C= (p.Thr380=)
c.1058C= (p.Thr353=)
c.764C= (p.Thr255=)
c.1145C= (p.Thr382=)
2g.48688397G>TCA346747075GTF2A1L,LHCGR,STON1-GTF2A1Lc.1400C>A (p.Thr467Asn)
c.948-258C>A (n.948-258C>A)
c.3441+16717G>T (n.3441+16717G>T)
c.*144C>A (n.*144C>A)
c.1319C>A (p.Thr440Asn)
c.276+16717G>T (n.276+16717G>T)
c.*220+5827C>A (n.*220+5827C>A)
c.443C>A (p.Thr148Asn)
c.470C>A (p.Thr157Asn)
c.1325C>A (p.Thr442Asn)
c.1139C>A (p.Thr380Asn)
c.1058C>A (p.Thr353Asn)
c.764C>A (p.Thr255Asn)
c.1145C>A (p.Thr382Asn)
2g.48688398T>ACA346747079GTF2A1L,LHCGR,STON1-GTF2A1Lc.1399A>T (p.Thr467Ser)
c.948-259A>T (n.948-259A>T)
c.3441+16718T>A (n.3441+16718T>A)
c.*143A>T (n.*143A>T)
c.1318A>T (p.Thr440Ser)
c.276+16718T>A (n.276+16718T>A)
c.*220+5826A>T (n.*220+5826A>T)
c.442A>T (p.Thr148Ser)
c.469A>T (p.Thr157Ser)
c.1324A>T (p.Thr442Ser)
c.1138A>T (p.Thr380Ser)
c.1057A>T (p.Thr353Ser)
c.763A>T (p.Thr255Ser)
c.1144A>T (p.Thr382Ser)
2g.48688398T>CCA346747076GTF2A1L,LHCGR,STON1-GTF2A1Lc.1399A>G (p.Thr467Ala)
c.948-259A>G (n.948-259A>G)
c.3441+16718T>C (n.3441+16718T>C)
c.*143A>G (n.*143A>G)
c.1318A>G (p.Thr440Ala)
c.276+16718T>C (n.276+16718T>C)
c.*220+5826A>G (n.*220+5826A>G)
c.442A>G (p.Thr148Ala)
c.469A>G (p.Thr157Ala)
c.1324A>G (p.Thr442Ala)
c.1138A>G (p.Thr380Ala)
c.1057A>G (p.Thr353Ala)
c.763A>G (p.Thr255Ala)
c.1144A>G (p.Thr382Ala)
2g.48688398T>GCA346747077GTF2A1L,LHCGR,STON1-GTF2A1Lc.1399A>C (p.Thr467Pro)
c.948-259A>C (n.948-259A>C)
c.3441+16718T>G (n.3441+16718T>G)
c.*143A>C (n.*143A>C)
c.1318A>C (p.Thr440Pro)
c.276+16718T>G (n.276+16718T>G)
c.*220+5826A>C (n.*220+5826A>C)
c.442A>C (p.Thr148Pro)
c.469A>C (p.Thr157Pro)
c.1324A>C (p.Thr442Pro)
c.1138A>C (p.Thr380Pro)
c.1057A>C (p.Thr353Pro)
c.763A>C (p.Thr255Pro)
c.1144A>C (p.Thr382Pro)
2g.48688399G>ACA426125179GTF2A1L,LHCGR,STON1-GTF2A1Lc.1398C>T (p.His466=)
c.948-260C>T (n.948-260C>T)
c.3441+16719G>A (n.3441+16719G>A)
c.*142C>T (n.*142C>T)
c.1317C>T (p.His439=)
c.276+16719G>A (n.276+16719G>A)
c.*220+5825C>T (n.*220+5825C>T)
c.441C>T (p.His147=)
c.468C>T (p.His156=)
c.1323C>T (p.His441=)
c.1137C>T (p.His379=)
c.1056C>T (p.His352=)
c.762C>T (p.His254=)
c.1143C>T (p.His381=)
 dbSNP
2g.48688399G>CCA346747083GTF2A1L,LHCGR,STON1-GTF2A1Lc.1398C>G (p.His466Gln)
c.948-260C>G (n.948-260C>G)
c.3441+16719G>C (n.3441+16719G>C)
c.*142C>G (n.*142C>G)
c.1317C>G (p.His439Gln)
c.276+16719G>C (n.276+16719G>C)
c.*220+5825C>G (n.*220+5825C>G)
c.441C>G (p.His147Gln)
c.468C>G (p.His156Gln)
c.1323C>G (p.His441Gln)
c.1137C>G (p.His379Gln)
c.1056C>G (p.His352Gln)
c.762C>G (p.His254Gln)
c.1143C>G (p.His381Gln)
2g.48688399G=CA1248601118GTF2A1L,LHCGR,STON1-GTF2A1Lc.1398C= (p.His466=)
c.948-260C= (n.948-260C=)
c.3441+16719G= (n.3441+16719G=)
c.*142C= (n.*142C=)
c.1317C= (p.His439=)
c.276+16719G= (n.276+16719G=)
c.*220+5825C= (n.*220+5825C=)
c.441C= (p.His147=)
c.468C= (p.His156=)
c.1323C= (p.His441=)
c.1137C= (p.His379=)
c.1056C= (p.His352=)
c.762C= (p.His254=)
c.1143C= (p.His381=)
2g.48688399G>TCA346747084GTF2A1L,LHCGR,STON1-GTF2A1Lc.1398C>A (p.His466Gln)
c.948-260C>A (n.948-260C>A)
c.3441+16719G>T (n.3441+16719G>T)
c.*142C>A (n.*142C>A)
c.1317C>A (p.His439Gln)
c.276+16719G>T (n.276+16719G>T)
c.*220+5825C>A (n.*220+5825C>A)
c.441C>A (p.His147Gln)
c.468C>A (p.His156Gln)
c.1323C>A (p.His441Gln)
c.1137C>A (p.His379Gln)
c.1056C>A (p.His352Gln)
c.762C>A (p.His254Gln)
c.1143C>A (p.His381Gln)
2g.48688400T>ACA346747086GTF2A1L,LHCGR,STON1-GTF2A1Lc.1397A>T (p.His466Leu)
c.948-261A>T (n.948-261A>T)
c.3441+16720T>A (n.3441+16720T>A)
c.*141A>T (n.*141A>T)
c.1316A>T (p.His439Leu)
c.276+16720T>A (n.276+16720T>A)
c.*220+5824A>T (n.*220+5824A>T)
c.440A>T (p.His147Leu)
c.467A>T (p.His156Leu)
c.1322A>T (p.His441Leu)
c.1136A>T (p.His379Leu)
c.1055A>T (p.His352Leu)
c.761A>T (p.His254Leu)
c.1142A>T (p.His381Leu)
2g.48688400T>CCA346747088GTF2A1L,LHCGR,STON1-GTF2A1Lc.1397A>G (p.His466Arg)
c.948-261A>G (n.948-261A>G)
c.3441+16720T>C (n.3441+16720T>C)
c.*141A>G (n.*141A>G)
c.1316A>G (p.His439Arg)
c.276+16720T>C (n.276+16720T>C)
c.*220+5824A>G (n.*220+5824A>G)
c.440A>G (p.His147Arg)
c.467A>G (p.His156Arg)
c.1322A>G (p.His441Arg)
c.1136A>G (p.His379Arg)
c.1055A>G (p.His352Arg)
c.761A>G (p.His254Arg)
c.1142A>G (p.His381Arg)
2g.48688400T>GCA346747091GTF2A1L,LHCGR,STON1-GTF2A1Lc.1397A>C (p.His466Pro)
c.948-261A>C (n.948-261A>C)
c.3441+16720T>G (n.3441+16720T>G)
c.*141A>C (n.*141A>C)
c.1316A>C (p.His439Pro)
c.276+16720T>G (n.276+16720T>G)
c.*220+5824A>C (n.*220+5824A>C)
c.440A>C (p.His147Pro)
c.467A>C (p.His156Pro)
c.1322A>C (p.His441Pro)
c.1136A>C (p.His379Pro)
c.1055A>C (p.His352Pro)
c.761A>C (p.His254Pro)
c.1142A>C (p.His381Pro)
2g.48688401G>ACA346747094GTF2A1L,LHCGR,STON1-GTF2A1Lc.1396C>T (p.His466Tyr)
c.948-262C>T (n.948-262C>T)
c.3441+16721G>A (n.3441+16721G>A)
c.*140C>T (n.*140C>T)
c.1315C>T (p.His439Tyr)
c.276+16721G>A (n.276+16721G>A)
c.*220+5823C>T (n.*220+5823C>T)
c.439C>T (p.His147Tyr)
c.466C>T (p.His156Tyr)
c.1321C>T (p.His441Tyr)
c.1135C>T (p.His379Tyr)
c.1054C>T (p.His352Tyr)
c.760C>T (p.His254Tyr)
c.1141C>T (p.His381Tyr)
 gnomAD v4
2g.48688401G>CCA346747099GTF2A1L,LHCGR,STON1-GTF2A1Lc.1396C>G (p.His466Asp)
c.948-262C>G (n.948-262C>G)
c.3441+16721G>C (n.3441+16721G>C)
c.*140C>G (n.*140C>G)
c.1315C>G (p.His439Asp)
c.276+16721G>C (n.276+16721G>C)
c.*220+5823C>G (n.*220+5823C>G)
c.439C>G (p.His147Asp)
c.466C>G (p.His156Asp)
c.1321C>G (p.His441Asp)
c.1135C>G (p.His379Asp)
c.1054C>G (p.His352Asp)
c.760C>G (p.His254Asp)
c.1141C>G (p.His381Asp)
2g.48688401G>TCA346747096GTF2A1L,LHCGR,STON1-GTF2A1Lc.1396C>A (p.His466Asn)
c.948-262C>A (n.948-262C>A)
c.3441+16721G>T (n.3441+16721G>T)
c.*140C>A (n.*140C>A)
c.1315C>A (p.His439Asn)
c.276+16721G>T (n.276+16721G>T)
c.*220+5823C>A (n.*220+5823C>A)
c.439C>A (p.His147Asn)
c.466C>A (p.His156Asn)
c.1321C>A (p.His441Asn)
c.1135C>A (p.His379Asn)
c.1054C>A (p.His352Asn)
c.760C>A (p.His254Asn)
c.1141C>A (p.His381Asn)
2g.48688402C>ACA346747100GTF2A1L,LHCGR,STON1-GTF2A1Lc.1395G>T (p.Trp465Cys)
c.948-263G>T (n.948-263G>T)
c.3441+16722C>A (n.3441+16722C>A)
c.*139G>T (n.*139G>T)
c.1314G>T (p.Trp438Cys)
c.276+16722C>A (n.276+16722C>A)
c.*220+5822G>T (n.*220+5822G>T)
c.438G>T (p.Trp146Cys)
c.465G>T (p.Trp155Cys)
c.1320G>T (p.Trp440Cys)
c.1134G>T (p.Trp378Cys)
c.1053G>T (p.Trp351Cys)
c.759G>T (p.Trp253Cys)
c.1140G>T (p.Trp380Cys)
 gnomAD v4
2g.48688402C=CA1248601119GTF2A1L,LHCGR,STON1-GTF2A1Lc.1395G= (p.Trp465=)
c.948-263G= (n.948-263G=)
c.3441+16722C= (n.3441+16722C=)
c.*139G= (n.*139G=)
c.1314G= (p.Trp438=)
c.276+16722C= (n.276+16722C=)
c.*220+5822G= (n.*220+5822G=)
c.438G= (p.Trp146=)
c.465G= (p.Trp155=)
c.1320G= (p.Trp440=)
c.1134G= (p.Trp378=)
c.1053G= (p.Trp351=)
c.759G= (p.Trp253=)
c.1140G= (p.Trp380=)
2g.48688402C>GCA346747102GTF2A1L,LHCGR,STON1-GTF2A1Lc.1395G>C (p.Trp465Cys)
c.948-263G>C (n.948-263G>C)
c.3441+16722C>G (n.3441+16722C>G)
c.*139G>C (n.*139G>C)
c.1314G>C (p.Trp438Cys)
c.276+16722C>G (n.276+16722C>G)
c.*220+5822G>C (n.*220+5822G>C)
c.438G>C (p.Trp146Cys)
c.465G>C (p.Trp155Cys)
c.1320G>C (p.Trp440Cys)
c.1134G>C (p.Trp378Cys)
c.1053G>C (p.Trp351Cys)
c.759G>C (p.Trp253Cys)
c.1140G>C (p.Trp380Cys)
2g.48688402C>TCA346747104GTF2A1L,LHCGR,STON1-GTF2A1Lc.1395G>A (p.Trp465Ter)
c.948-263G>A (n.948-263G>A)
c.3441+16722C>T (n.3441+16722C>T)
c.*139G>A (n.*139G>A)
c.1314G>A (p.Trp438Ter)
c.276+16722C>T (n.276+16722C>T)
c.*220+5822G>A (n.*220+5822G>A)
c.438G>A (p.Trp146Ter)
c.465G>A (p.Trp155Ter)
c.1320G>A (p.Trp440Ter)
c.1134G>A (p.Trp378Ter)
c.1053G>A (p.Trp351Ter)
c.759G>A (p.Trp253Ter)
c.1140G>A (p.Trp380Ter)
 dbSNP gnomAD v3 gnomAD v4
2g.48688403C>ACA346747108GTF2A1L,LHCGR,STON1-GTF2A1Lc.1394G>T (p.Trp465Leu)
c.948-264G>T (n.948-264G>T)
c.3441+16723C>A (n.3441+16723C>A)
c.*138G>T (n.*138G>T)
c.1313G>T (p.Trp438Leu)
c.276+16723C>A (n.276+16723C>A)
c.*220+5821G>T (n.*220+5821G>T)
c.437G>T (p.Trp146Leu)
c.464G>T (p.Trp155Leu)
c.1319G>T (p.Trp440Leu)
c.1133G>T (p.Trp378Leu)
c.1052G>T (p.Trp351Leu)
c.758G>T (p.Trp253Leu)
c.1139G>T (p.Trp380Leu)
2g.48688403C>GCA346747109GTF2A1L,LHCGR,STON1-GTF2A1Lc.1394G>C (p.Trp465Ser)
c.948-264G>C (n.948-264G>C)
c.3441+16723C>G (n.3441+16723C>G)
c.*138G>C (n.*138G>C)
c.1313G>C (p.Trp438Ser)
c.276+16723C>G (n.276+16723C>G)
c.*220+5821G>C (n.*220+5821G>C)
c.437G>C (p.Trp146Ser)
c.464G>C (p.Trp155Ser)
c.1319G>C (p.Trp440Ser)
c.1133G>C (p.Trp378Ser)
c.1052G>C (p.Trp351Ser)
c.758G>C (p.Trp253Ser)
c.1139G>C (p.Trp380Ser)
2g.48688403C>TCA346747111GTF2A1L,LHCGR,STON1-GTF2A1Lc.1394G>A (p.Trp465Ter)
c.948-264G>A (n.948-264G>A)
c.3441+16723C>T (n.3441+16723C>T)
c.*138G>A (n.*138G>A)
c.1313G>A (p.Trp438Ter)
c.276+16723C>T (n.276+16723C>T)
c.*220+5821G>A (n.*220+5821G>A)
c.437G>A (p.Trp146Ter)
c.464G>A (p.Trp155Ter)
c.1319G>A (p.Trp440Ter)
c.1133G>A (p.Trp378Ter)
c.1052G>A (p.Trp351Ter)
c.758G>A (p.Trp253Ter)
c.1139G>A (p.Trp380Ter)
2g.48688404A>CCA346747114GTF2A1L,LHCGR,STON1-GTF2A1Lc.1393T>G (p.Trp465Gly)
c.948-265T>G (n.948-265T>G)
c.3441+16724A>C (n.3441+16724A>C)
c.*137T>G (n.*137T>G)
c.1312T>G (p.Trp438Gly)
c.276+16724A>C (n.276+16724A>C)
c.*220+5820T>G (n.*220+5820T>G)
c.436T>G (p.Trp146Gly)
c.463T>G (p.Trp155Gly)
c.1318T>G (p.Trp440Gly)
c.1132T>G (p.Trp378Gly)
c.1051T>G (p.Trp351Gly)
c.757T>G (p.Trp253Gly)
c.1138T>G (p.Trp380Gly)
2g.48688404A>GCA346747115GTF2A1L,LHCGR,STON1-GTF2A1Lc.1393T>C (p.Trp465Arg)
c.948-265T>C (n.948-265T>C)
c.3441+16724A>G (n.3441+16724A>G)
c.*137T>C (n.*137T>C)
c.1312T>C (p.Trp438Arg)
c.276+16724A>G (n.276+16724A>G)
c.*220+5820T>C (n.*220+5820T>C)
c.436T>C (p.Trp146Arg)
c.463T>C (p.Trp155Arg)
c.1318T>C (p.Trp440Arg)
c.1132T>C (p.Trp378Arg)
c.1051T>C (p.Trp351Arg)
c.757T>C (p.Trp253Arg)
c.1138T>C (p.Trp380Arg)
2g.48688404A>TCA346747118GTF2A1L,LHCGR,STON1-GTF2A1Lc.1393T>A (p.Trp465Arg)
c.948-265T>A (n.948-265T>A)
c.3441+16724A>T (n.3441+16724A>T)
c.*137T>A (n.*137T>A)
c.1312T>A (p.Trp438Arg)
c.276+16724A>T (n.276+16724A>T)
c.*220+5820T>A (n.*220+5820T>A)
c.436T>A (p.Trp146Arg)
c.463T>A (p.Trp155Arg)
c.1318T>A (p.Trp440Arg)
c.1132T>A (p.Trp378Arg)
c.1051T>A (p.Trp351Arg)
c.757T>A (p.Trp253Arg)
c.1138T>A (p.Trp380Arg)
2g.48688405T>ACA1653035GTF2A1L,LHCGR,STON1-GTF2A1Lc.1392A>T (p.Arg464Ser)
c.948-266A>T (n.948-266A>T)
c.3441+16725T>A (n.3441+16725T>A)
c.*136A>T (n.*136A>T)
c.1311A>T (p.Arg437Ser)
c.276+16725T>A (n.276+16725T>A)
c.*220+5819A>T (n.*220+5819A>T)
c.435A>T (p.Arg145Ser)
c.462A>T (p.Arg154Ser)
c.1317A>T (p.Arg439Ser)
c.1131A>T (p.Arg377Ser)
c.1050A>T (p.Arg350Ser)
c.756A>T (p.Arg252Ser)
c.1137A>T (p.Arg379Ser)
 dbSNP ExAC gnomAD v3 gnomAD v4
2g.48688405T>CCA426125200GTF2A1L,LHCGR,STON1-GTF2A1Lc.1392A>G (p.Arg464=)
c.948-266A>G (n.948-266A>G)
c.3441+16725T>C (n.3441+16725T>C)
c.*136A>G (n.*136A>G)
c.1311A>G (p.Arg437=)
c.276+16725T>C (n.276+16725T>C)
c.*220+5819A>G (n.*220+5819A>G)
c.435A>G (p.Arg145=)
c.462A>G (p.Arg154=)
c.1317A>G (p.Arg439=)
c.1131A>G (p.Arg377=)
c.1050A>G (p.Arg350=)
c.756A>G (p.Arg252=)
c.1137A>G (p.Arg379=)
2g.48688405T>GCA346747121GTF2A1L,LHCGR,STON1-GTF2A1Lc.1392A>C (p.Arg464Ser)
c.948-266A>C (n.948-266A>C)
c.3441+16725T>G (n.3441+16725T>G)
c.*136A>C (n.*136A>C)
c.1311A>C (p.Arg437Ser)
c.276+16725T>G (n.276+16725T>G)
c.*220+5819A>C (n.*220+5819A>C)
c.435A>C (p.Arg145Ser)
c.462A>C (p.Arg154Ser)
c.1317A>C (p.Arg439Ser)
c.1131A>C (p.Arg377Ser)
c.1050A>C (p.Arg350Ser)
c.756A>C (p.Arg252Ser)
c.1137A>C (p.Arg379Ser)
2g.48688405T=CA1248601120GTF2A1L,LHCGR,STON1-GTF2A1Lc.1392A= (p.Arg464=)
c.948-266A= (n.948-266A=)
c.3441+16725T= (n.3441+16725T=)
c.*136A= (n.*136A=)
c.1311A= (p.Arg437=)
c.276+16725T= (n.276+16725T=)
c.*220+5819A= (n.*220+5819A=)
c.435A= (p.Arg145=)
c.462A= (p.Arg154=)
c.1317A= (p.Arg439=)
c.1131A= (p.Arg377=)
c.1050A= (p.Arg350=)
c.756A= (p.Arg252=)
c.1137A= (p.Arg379=)
2g.48688406C>ACA346747123GTF2A1L,LHCGR,STON1-GTF2A1Lc.1391G>T (p.Arg464Ile)
c.948-267G>T (n.948-267G>T)
c.3441+16726C>A (n.3441+16726C>A)
c.*135G>T (n.*135G>T)
c.1310G>T (p.Arg437Ile)
c.276+16726C>A (n.276+16726C>A)
c.*220+5818G>T (n.*220+5818G>T)
c.434G>T (p.Arg145Ile)
c.461G>T (p.Arg154Ile)
c.1316G>T (p.Arg439Ile)
c.1130G>T (p.Arg377Ile)
c.1049G>T (p.Arg350Ile)
c.755G>T (p.Arg252Ile)
c.1136G>T (p.Arg379Ile)
 COSMIC
2g.48688406C=CA1248601121GTF2A1L,LHCGR,STON1-GTF2A1Lc.1391G= (p.Arg464=)
c.948-267G= (n.948-267G=)
c.3441+16726C= (n.3441+16726C=)
c.*135G= (n.*135G=)
c.1310G= (p.Arg437=)
c.276+16726C= (n.276+16726C=)
c.*220+5818G= (n.*220+5818G=)
c.434G= (p.Arg145=)
c.461G= (p.Arg154=)
c.1316G= (p.Arg439=)
c.1130G= (p.Arg377=)
c.1049G= (p.Arg350=)
c.755G= (p.Arg252=)
c.1136G= (p.Arg379=)
2g.48688406C>GCA346747128GTF2A1L,LHCGR,STON1-GTF2A1Lc.1391G>C (p.Arg464Thr)
c.948-267G>C (n.948-267G>C)
c.3441+16726C>G (n.3441+16726C>G)
c.*135G>C (n.*135G>C)
c.1310G>C (p.Arg437Thr)
c.276+16726C>G (n.276+16726C>G)
c.*220+5818G>C (n.*220+5818G>C)
c.434G>C (p.Arg145Thr)
c.461G>C (p.Arg154Thr)
c.1316G>C (p.Arg439Thr)
c.1130G>C (p.Arg377Thr)
c.1049G>C (p.Arg350Thr)
c.755G>C (p.Arg252Thr)
c.1136G>C (p.Arg379Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.48688406C>TCA346747124GTF2A1L,LHCGR,STON1-GTF2A1Lc.1391G>A (p.Arg464Lys)
c.948-267G>A (n.948-267G>A)
c.3441+16726C>T (n.3441+16726C>T)
c.*135G>A (n.*135G>A)
c.1310G>A (p.Arg437Lys)
c.276+16726C>T (n.276+16726C>T)
c.*220+5818G>A (n.*220+5818G>A)
c.434G>A (p.Arg145Lys)
c.461G>A (p.Arg154Lys)
c.1316G>A (p.Arg439Lys)
c.1130G>A (p.Arg377Lys)
c.1049G>A (p.Arg350Lys)
c.755G>A (p.Arg252Lys)
c.1136G>A (p.Arg379Lys)
 gnomAD v4
2g.48688407T>ACA346747130GTF2A1L,LHCGR,STON1-GTF2A1Lc.1390A>T (p.Arg464Ter)
c.948-268A>T (n.948-268A>T)
c.3441+16727T>A (n.3441+16727T>A)
c.*134A>T (n.*134A>T)
c.1309A>T (p.Arg437Ter)
c.276+16727T>A (n.276+16727T>A)
c.*220+5817A>T (n.*220+5817A>T)
c.433A>T (p.Arg145Ter)
c.460A>T (p.Arg154Ter)
c.1315A>T (p.Arg439Ter)
c.1129A>T (p.Arg377Ter)
c.1048A>T (p.Arg350Ter)
c.754A>T (p.Arg252Ter)
c.1135A>T (p.Arg379Ter)
2g.48688407T>CCA346747132GTF2A1L,LHCGR,STON1-GTF2A1Lc.1390A>G (p.Arg464Gly)
c.948-268A>G (n.948-268A>G)
c.3441+16727T>C (n.3441+16727T>C)
c.*134A>G (n.*134A>G)
c.1309A>G (p.Arg437Gly)
c.276+16727T>C (n.276+16727T>C)
c.*220+5817A>G (n.*220+5817A>G)
c.433A>G (p.Arg145Gly)
c.460A>G (p.Arg154Gly)
c.1315A>G (p.Arg439Gly)
c.1129A>G (p.Arg377Gly)
c.1048A>G (p.Arg350Gly)
c.754A>G (p.Arg252Gly)
c.1135A>G (p.Arg379Gly)
 COSMIC
2g.48688407T>GCA426125209GTF2A1L,LHCGR,STON1-GTF2A1Lc.1390A>C (p.Arg464=)
c.948-268A>C (n.948-268A>C)
c.3441+16727T>G (n.3441+16727T>G)
c.*134A>C (n.*134A>C)
c.1309A>C (p.Arg437=)
c.276+16727T>G (n.276+16727T>G)
c.*220+5817A>C (n.*220+5817A>C)
c.433A>C (p.Arg145=)
c.460A>C (p.Arg154=)
c.1315A>C (p.Arg439=)
c.1129A>C (p.Arg377=)
c.1048A>C (p.Arg350=)
c.754A>C (p.Arg252=)
c.1135A>C (p.Arg379=)
2g.48688408T>ACA346747134GTF2A1L,LHCGR,STON1-GTF2A1Lc.1389A>T (p.Glu463Asp)
c.948-269A>T (n.948-269A>T)
c.3441+16728T>A (n.3441+16728T>A)
c.*133A>T (n.*133A>T)
c.1308A>T (p.Glu436Asp)
c.276+16728T>A (n.276+16728T>A)
c.*220+5816A>T (n.*220+5816A>T)
c.432A>T (p.Glu144Asp)
c.459A>T (p.Glu153Asp)
c.1314A>T (p.Glu438Asp)
c.1128A>T (p.Glu376Asp)
c.1047A>T (p.Glu349Asp)
c.753A>T (p.Glu251Asp)
c.1134A>T (p.Glu378Asp)
 dbSNP gnomAD v2 gnomAD v4
2g.48688408T>CCA426125216GTF2A1L,LHCGR,STON1-GTF2A1Lc.1389A>G (p.Glu463=)
c.948-269A>G (n.948-269A>G)
c.3441+16728T>C (n.3441+16728T>C)
c.*133A>G (n.*133A>G)
c.1308A>G (p.Glu436=)
c.276+16728T>C (n.276+16728T>C)
c.*220+5816A>G (n.*220+5816A>G)
c.432A>G (p.Glu144=)
c.459A>G (p.Glu153=)
c.1314A>G (p.Glu438=)
c.1128A>G (p.Glu376=)
c.1047A>G (p.Glu349=)
c.753A>G (p.Glu251=)
c.1134A>G (p.Glu378=)
2g.48688408T>GCA346747135GTF2A1L,LHCGR,STON1-GTF2A1Lc.1389A>C (p.Glu463Asp)
c.948-269A>C (n.948-269A>C)
c.3441+16728T>G (n.3441+16728T>G)
c.*133A>C (n.*133A>C)
c.1308A>C (p.Glu436Asp)
c.276+16728T>G (n.276+16728T>G)
c.*220+5816A>C (n.*220+5816A>C)
c.432A>C (p.Glu144Asp)
c.459A>C (p.Glu153Asp)
c.1314A>C (p.Glu438Asp)
c.1128A>C (p.Glu376Asp)
c.1047A>C (p.Glu349Asp)
c.753A>C (p.Glu251Asp)
c.1134A>C (p.Glu378Asp)
2g.48688408T=CA1248601122GTF2A1L,LHCGR,STON1-GTF2A1Lc.1389A= (p.Glu463=)
c.948-269A= (n.948-269A=)
c.3441+16728T= (n.3441+16728T=)
c.*133A= (n.*133A=)
c.1308A= (p.Glu436=)
c.276+16728T= (n.276+16728T=)
c.*220+5816A= (n.*220+5816A=)
c.432A= (p.Glu144=)
c.459A= (p.Glu153=)
c.1314A= (p.Glu438=)
c.1128A= (p.Glu376=)
c.1047A= (p.Glu349=)
c.753A= (p.Glu251=)
c.1134A= (p.Glu378=)
2g.48688409T>ACA346747136GTF2A1L,LHCGR,STON1-GTF2A1Lc.1388A>T (p.Glu463Val)
c.948-270A>T (n.948-270A>T)
c.3441+16729T>A (n.3441+16729T>A)
c.*132A>T (n.*132A>T)
c.1307A>T (p.Glu436Val)
c.276+16729T>A (n.276+16729T>A)
c.*220+5815A>T (n.*220+5815A>T)
c.431A>T (p.Glu144Val)
c.458A>T (p.Glu153Val)
c.1313A>T (p.Glu438Val)
c.1127A>T (p.Glu376Val)
c.1046A>T (p.Glu349Val)
c.752A>T (p.Glu251Val)
c.1133A>T (p.Glu378Val)
2g.48688409T>CCA346747137GTF2A1L,LHCGR,STON1-GTF2A1Lc.1388A>G (p.Glu463Gly)
c.948-270A>G (n.948-270A>G)
c.3441+16729T>C (n.3441+16729T>C)
c.*132A>G (n.*132A>G)
c.1307A>G (p.Glu436Gly)
c.276+16729T>C (n.276+16729T>C)
c.*220+5815A>G (n.*220+5815A>G)
c.431A>G (p.Glu144Gly)
c.458A>G (p.Glu153Gly)
c.1313A>G (p.Glu438Gly)
c.1127A>G (p.Glu376Gly)
c.1046A>G (p.Glu349Gly)
c.752A>G (p.Glu251Gly)
c.1133A>G (p.Glu378Gly)
 COSMIC
2g.48688409T>GCA346747138GTF2A1L,LHCGR,STON1-GTF2A1Lc.1388A>C (p.Glu463Ala)
c.948-270A>C (n.948-270A>C)
c.3441+16729T>G (n.3441+16729T>G)
c.*132A>C (n.*132A>C)
c.1307A>C (p.Glu436Ala)
c.276+16729T>G (n.276+16729T>G)
c.*220+5815A>C (n.*220+5815A>C)
c.431A>C (p.Glu144Ala)
c.458A>C (p.Glu153Ala)
c.1313A>C (p.Glu438Ala)
c.1127A>C (p.Glu376Ala)
c.1046A>C (p.Glu349Ala)
c.752A>C (p.Glu251Ala)
c.1133A>C (p.Glu378Ala)
2g.48688410C>ACA346747139GTF2A1L,LHCGR,STON1-GTF2A1Lc.1387G>T (p.Glu463Ter)
c.948-271G>T (n.948-271G>T)
c.3441+16730C>A (n.3441+16730C>A)
c.*131G>T (n.*131G>T)
c.1306G>T (p.Glu436Ter)
c.276+16730C>A (n.276+16730C>A)
c.*220+5814G>T (n.*220+5814G>T)
c.430G>T (p.Glu144Ter)
c.457G>T (p.Glu153Ter)
c.1312G>T (p.Glu438Ter)
c.1126G>T (p.Glu376Ter)
c.1045G>T (p.Glu349Ter)
c.751G>T (p.Glu251Ter)
c.1132G>T (p.Glu378Ter)
2g.48688410C=CA1248601123GTF2A1L,LHCGR,STON1-GTF2A1Lc.1387G= (p.Glu463=)
c.948-271G= (n.948-271G=)
c.3441+16730C= (n.3441+16730C=)
c.*131G= (n.*131G=)
c.1306G= (p.Glu436=)
c.276+16730C= (n.276+16730C=)
c.*220+5814G= (n.*220+5814G=)
c.430G= (p.Glu144=)
c.457G= (p.Glu153=)
c.1312G= (p.Glu438=)
c.1126G= (p.Glu376=)
c.1045G= (p.Glu349=)
c.751G= (p.Glu251=)
c.1132G= (p.Glu378=)
2g.48688410C>GCA346747142GTF2A1L,LHCGR,STON1-GTF2A1Lc.1387G>C (p.Glu463Gln)
c.948-271G>C (n.948-271G>C)
c.3441+16730C>G (n.3441+16730C>G)
c.*131G>C (n.*131G>C)
c.1306G>C (p.Glu436Gln)
c.276+16730C>G (n.276+16730C>G)
c.*220+5814G>C (n.*220+5814G>C)
c.430G>C (p.Glu144Gln)
c.457G>C (p.Glu153Gln)
c.1312G>C (p.Glu438Gln)
c.1126G>C (p.Glu376Gln)
c.1045G>C (p.Glu349Gln)
c.751G>C (p.Glu251Gln)
c.1132G>C (p.Glu378Gln)
 gnomAD v4
2g.48688410C>TCA346747143GTF2A1L,LHCGR,STON1-GTF2A1Lc.1387G>A (p.Glu463Lys)
c.948-271G>A (n.948-271G>A)
c.3441+16730C>T (n.3441+16730C>T)
c.*131G>A (n.*131G>A)
c.1306G>A (p.Glu436Lys)
c.276+16730C>T (n.276+16730C>T)
c.*220+5814G>A (n.*220+5814G>A)
c.430G>A (p.Glu144Lys)
c.457G>A (p.Glu153Lys)
c.1312G>A (p.Glu438Lys)
c.1126G>A (p.Glu376Lys)
c.1045G>A (p.Glu349Lys)
c.751G>A (p.Glu251Lys)
c.1132G>A (p.Glu378Lys)
 dbSNP gnomAD v4
2g.48688411T>ACA426125220GTF2A1L,LHCGR,STON1-GTF2A1Lc.1386A>T (p.Leu462=)
c.948-272A>T (n.948-272A>T)
c.3441+16731T>A (n.3441+16731T>A)
c.*130A>T (n.*130A>T)
c.1305A>T (p.Leu435=)
c.276+16731T>A (n.276+16731T>A)
c.*220+5813A>T (n.*220+5813A>T)
c.429A>T (p.Leu143=)
c.456A>T (p.Leu152=)
c.1311A>T (p.Leu437=)
c.1125A>T (p.Leu375=)
c.1044A>T (p.Leu348=)
c.750A>T (p.Leu250=)
c.1131A>T (p.Leu377=)
2g.48688411T>CCA426125223GTF2A1L,LHCGR,STON1-GTF2A1Lc.1386A>G (p.Leu462=)
c.948-272A>G (n.948-272A>G)
c.3441+16731T>C (n.3441+16731T>C)
c.*130A>G (n.*130A>G)
c.1305A>G (p.Leu435=)
c.276+16731T>C (n.276+16731T>C)
c.*220+5813A>G (n.*220+5813A>G)
c.429A>G (p.Leu143=)
c.456A>G (p.Leu152=)
c.1311A>G (p.Leu437=)
c.1125A>G (p.Leu375=)
c.1044A>G (p.Leu348=)
c.750A>G (p.Leu250=)
c.1131A>G (p.Leu377=)
2g.48688411T>GCA426125225GTF2A1L,LHCGR,STON1-GTF2A1Lc.1386A>C (p.Leu462=)
c.948-272A>C (n.948-272A>C)
c.3441+16731T>G (n.3441+16731T>G)
c.*130A>C (n.*130A>C)
c.1305A>C (p.Leu435=)
c.276+16731T>G (n.276+16731T>G)
c.*220+5813A>C (n.*220+5813A>C)
c.429A>C (p.Leu143=)
c.456A>C (p.Leu152=)
c.1311A>C (p.Leu437=)
c.1125A>C (p.Leu375=)
c.1044A>C (p.Leu348=)
c.750A>C (p.Leu250=)
c.1131A>C (p.Leu377=)
2g.48688412A>CCA346747150GTF2A1L,LHCGR,STON1-GTF2A1Lc.1385T>G (p.Leu462Arg)
c.948-273T>G (n.948-273T>G)
c.3441+16732A>C (n.3441+16732A>C)
c.*129T>G (n.*129T>G)
c.1304T>G (p.Leu435Arg)
c.276+16732A>C (n.276+16732A>C)
c.*220+5812T>G (n.*220+5812T>G)
c.428T>G (p.Leu143Arg)
c.455T>G (p.Leu152Arg)
c.1310T>G (p.Leu437Arg)
c.1124T>G (p.Leu375Arg)
c.1043T>G (p.Leu348Arg)
c.749T>G (p.Leu250Arg)
c.1130T>G (p.Leu377Arg)
 gnomAD v4
2g.48688412A>GCA346747148GTF2A1L,LHCGR,STON1-GTF2A1Lc.1385T>C (p.Leu462Pro)
c.948-273T>C (n.948-273T>C)
c.3441+16732A>G (n.3441+16732A>G)
c.*129T>C (n.*129T>C)
c.1304T>C (p.Leu435Pro)
c.276+16732A>G (n.276+16732A>G)
c.*220+5812T>C (n.*220+5812T>C)
c.428T>C (p.Leu143Pro)
c.455T>C (p.Leu152Pro)
c.1310T>C (p.Leu437Pro)
c.1124T>C (p.Leu375Pro)
c.1043T>C (p.Leu348Pro)
c.749T>C (p.Leu250Pro)
c.1130T>C (p.Leu377Pro)
2g.48688412A>TCA346747146GTF2A1L,LHCGR,STON1-GTF2A1Lc.1385T>A (p.Leu462Gln)
c.948-273T>A (n.948-273T>A)
c.3441+16732A>T (n.3441+16732A>T)
c.*129T>A (n.*129T>A)
c.1304T>A (p.Leu435Gln)
c.276+16732A>T (n.276+16732A>T)
c.*220+5812T>A (n.*220+5812T>A)
c.428T>A (p.Leu143Gln)
c.455T>A (p.Leu152Gln)
c.1310T>A (p.Leu437Gln)
c.1124T>A (p.Leu375Gln)
c.1043T>A (p.Leu348Gln)
c.749T>A (p.Leu250Gln)
c.1130T>A (p.Leu377Gln)
2g.48688413G>ACA426125237GTF2A1L,LHCGR,STON1-GTF2A1Lc.1384C>T (p.Leu462=)
c.948-274C>T (n.948-274C>T)
c.3441+16733G>A (n.3441+16733G>A)
c.*128C>T (n.*128C>T)
c.1303C>T (p.Leu435=)
c.276+16733G>A (n.276+16733G>A)
c.*220+5811C>T (n.*220+5811C>T)
c.427C>T (p.Leu143=)
c.454C>T (p.Leu152=)
c.1309C>T (p.Leu437=)
c.1123C>T (p.Leu375=)
c.1042C>T (p.Leu348=)
c.748C>T (p.Leu250=)
c.1129C>T (p.Leu377=)
2g.48688413G>CCA346747153GTF2A1L,LHCGR,STON1-GTF2A1Lc.1384C>G (p.Leu462Val)
c.948-274C>G (n.948-274C>G)
c.3441+16733G>C (n.3441+16733G>C)
c.*128C>G (n.*128C>G)
c.1303C>G (p.Leu435Val)
c.276+16733G>C (n.276+16733G>C)
c.*220+5811C>G (n.*220+5811C>G)
c.427C>G (p.Leu143Val)
c.454C>G (p.Leu152Val)
c.1309C>G (p.Leu437Val)
c.1123C>G (p.Leu375Val)
c.1042C>G (p.Leu348Val)
c.748C>G (p.Leu250Val)
c.1129C>G (p.Leu377Val)
2g.48688413G>TCA346747154GTF2A1L,LHCGR,STON1-GTF2A1Lc.1384C>A (p.Leu462Ile)
c.948-274C>A (n.948-274C>A)
c.3441+16733G>T (n.3441+16733G>T)
c.*128C>A (n.*128C>A)
c.1303C>A (p.Leu435Ile)
c.276+16733G>T (n.276+16733G>T)
c.*220+5811C>A (n.*220+5811C>A)
c.427C>A (p.Leu143Ile)
c.454C>A (p.Leu152Ile)
c.1309C>A (p.Leu437Ile)
c.1123C>A (p.Leu375Ile)
c.1042C>A (p.Leu348Ile)
c.748C>A (p.Leu250Ile)
c.1129C>A (p.Leu377Ile)
2g.48688414A>CCA426125238GTF2A1L,LHCGR,STON1-GTF2A1Lc.1383T>G (p.Thr461=)
c.948-275T>G (n.948-275T>G)
c.3441+16734A>C (n.3441+16734A>C)
c.*127T>G (n.*127T>G)
c.1302T>G (p.Thr434=)
c.276+16734A>C (n.276+16734A>C)
c.*220+5810T>G (n.*220+5810T>G)
c.426T>G (p.Thr142=)
c.453T>G (p.Thr151=)
c.1308T>G (p.Thr436=)
c.1122T>G (p.Thr374=)
c.1041T>G (p.Thr347=)
c.747T>G (p.Thr249=)
c.1128T>G (p.Thr376=)
2g.48688414A>GCA426125239GTF2A1L,LHCGR,STON1-GTF2A1Lc.1383T>C (p.Thr461=)
c.948-275T>C (n.948-275T>C)
c.3441+16734A>G (n.3441+16734A>G)
c.*127T>C (n.*127T>C)
c.1302T>C (p.Thr434=)
c.276+16734A>G (n.276+16734A>G)
c.*220+5810T>C (n.*220+5810T>C)
c.426T>C (p.Thr142=)
c.453T>C (p.Thr151=)
c.1308T>C (p.Thr436=)
c.1122T>C (p.Thr374=)
c.1041T>C (p.Thr347=)
c.747T>C (p.Thr249=)
c.1128T>C (p.Thr376=)
2g.48688414A>TCA426125242GTF2A1L,LHCGR,STON1-GTF2A1Lc.1383T>A (p.Thr461=)
c.948-275T>A (n.948-275T>A)
c.3441+16734A>T (n.3441+16734A>T)
c.*127T>A (n.*127T>A)
c.1302T>A (p.Thr434=)
c.276+16734A>T (n.276+16734A>T)
c.*220+5810T>A (n.*220+5810T>A)
c.426T>A (p.Thr142=)
c.453T>A (p.Thr151=)
c.1308T>A (p.Thr436=)
c.1122T>A (p.Thr374=)
c.1041T>A (p.Thr347=)
c.747T>A (p.Thr249=)
c.1128T>A (p.Thr376=)
2g.48688415G>ACA346747157GTF2A1L,LHCGR,STON1-GTF2A1Lc.1382C>T (p.Thr461Ile)
c.948-276C>T (n.948-276C>T)
c.3441+16735G>A (n.3441+16735G>A)
c.*126C>T (n.*126C>T)
c.1301C>T (p.Thr434Ile)
c.276+16735G>A (n.276+16735G>A)
c.*220+5809C>T (n.*220+5809C>T)
c.425C>T (p.Thr142Ile)
c.452C>T (p.Thr151Ile)
c.1307C>T (p.Thr436Ile)
c.1121C>T (p.Thr374Ile)
c.1040C>T (p.Thr347Ile)
c.746C>T (p.Thr249Ile)
c.1127C>T (p.Thr376Ile)
2g.48688415G>CCA346747159GTF2A1L,LHCGR,STON1-GTF2A1Lc.1382C>G (p.Thr461Ser)
c.948-276C>G (n.948-276C>G)
c.3441+16735G>C (n.3441+16735G>C)
c.*126C>G (n.*126C>G)
c.1301C>G (p.Thr434Ser)
c.276+16735G>C (n.276+16735G>C)
c.*220+5809C>G (n.*220+5809C>G)
c.425C>G (p.Thr142Ser)
c.452C>G (p.Thr151Ser)
c.1307C>G (p.Thr436Ser)
c.1121C>G (p.Thr374Ser)
c.1040C>G (p.Thr347Ser)
c.746C>G (p.Thr249Ser)
c.1127C>G (p.Thr376Ser)
2g.48688415G=CA1248601124GTF2A1L,LHCGR,STON1-GTF2A1Lc.1382C= (p.Thr461=)
c.948-276C= (n.948-276C=)
c.3441+16735G= (n.3441+16735G=)
c.*126C= (n.*126C=)
c.1301C= (p.Thr434=)
c.276+16735G= (n.276+16735G=)
c.*220+5809C= (n.*220+5809C=)
c.425C= (p.Thr142=)
c.452C= (p.Thr151=)
c.1307C= (p.Thr436=)
c.1121C= (p.Thr374=)
c.1040C= (p.Thr347=)
c.746C= (p.Thr249=)
c.1127C= (p.Thr376=)
2g.48688415G>TCA1653036GTF2A1L,LHCGR,STON1-GTF2A1Lc.1382C>A (p.Thr461Asn)
c.948-276C>A (n.948-276C>A)
c.3441+16735G>T (n.3441+16735G>T)
c.*126C>A (n.*126C>A)
c.1301C>A (p.Thr434Asn)
c.276+16735G>T (n.276+16735G>T)
c.*220+5809C>A (n.*220+5809C>A)
c.425C>A (p.Thr142Asn)
c.452C>A (p.Thr151Asn)
c.1307C>A (p.Thr436Asn)
c.1121C>A (p.Thr374Asn)
c.1040C>A (p.Thr347Asn)
c.746C>A (p.Thr249Asn)
c.1127C>A (p.Thr376Asn)
 dbSNP ExAC gnomAD v2
2g.48688416T>ACA346747162GTF2A1L,LHCGR,STON1-GTF2A1Lc.1381A>T (p.Thr461Ser)
c.948-277A>T (n.948-277A>T)
c.3441+16736T>A (n.3441+16736T>A)
c.*125A>T (n.*125A>T)
c.1300A>T (p.Thr434Ser)
c.276+16736T>A (n.276+16736T>A)
c.*220+5808A>T (n.*220+5808A>T)
c.424A>T (p.Thr142Ser)
c.451A>T (p.Thr151Ser)
c.1306A>T (p.Thr436Ser)
c.1120A>T (p.Thr374Ser)
c.1039A>T (p.Thr347Ser)
c.745A>T (p.Thr249Ser)
c.1126A>T (p.Thr376Ser)
2g.48688416T>CCA346747163GTF2A1L,LHCGR,STON1-GTF2A1Lc.1381A>G (p.Thr461Ala)
c.948-277A>G (n.948-277A>G)
c.3441+16736T>C (n.3441+16736T>C)
c.*125A>G (n.*125A>G)
c.1300A>G (p.Thr434Ala)
c.276+16736T>C (n.276+16736T>C)
c.*220+5808A>G (n.*220+5808A>G)
c.424A>G (p.Thr142Ala)
c.451A>G (p.Thr151Ala)
c.1306A>G (p.Thr436Ala)
c.1120A>G (p.Thr374Ala)
c.1039A>G (p.Thr347Ala)
c.745A>G (p.Thr249Ala)
c.1126A>G (p.Thr376Ala)
2g.48688416T>GCA346747165GTF2A1L,LHCGR,STON1-GTF2A1Lc.1381A>C (p.Thr461Pro)
c.948-277A>C (n.948-277A>C)
c.3441+16736T>G (n.3441+16736T>G)
c.*125A>C (n.*125A>C)
c.1300A>C (p.Thr434Pro)
c.276+16736T>G (n.276+16736T>G)
c.*220+5808A>C (n.*220+5808A>C)
c.424A>C (p.Thr142Pro)
c.451A>C (p.Thr151Pro)
c.1306A>C (p.Thr436Pro)
c.1120A>C (p.Thr374Pro)
c.1039A>C (p.Thr347Pro)
c.745A>C (p.Thr249Pro)
c.1126A>C (p.Thr376Pro)
 gnomAD v3 gnomAD v4
2g.48688417G>ACA426125246GTF2A1L,LHCGR,STON1-GTF2A1Lc.1380C>T (p.Ile460=)
c.948-278C>T (n.948-278C>T)
c.3441+16737G>A (n.3441+16737G>A)
c.*124C>T (n.*124C>T)
c.1299C>T (p.Ile433=)
c.276+16737G>A (n.276+16737G>A)
c.*220+5807C>T (n.*220+5807C>T)
c.423C>T (p.Ile141=)
c.450C>T (p.Ile150=)
c.1305C>T (p.Ile435=)
c.1119C>T (p.Ile373=)
c.1038C>T (p.Ile346=)
c.744C>T (p.Ile248=)
c.1125C>T (p.Ile375=)
2g.48688417G>CCA346747166GTF2A1L,LHCGR,STON1-GTF2A1Lc.1380C>G (p.Ile460Met)
c.948-278C>G (n.948-278C>G)
c.3441+16737G>C (n.3441+16737G>C)
c.*124C>G (n.*124C>G)
c.1299C>G (p.Ile433Met)
c.276+16737G>C (n.276+16737G>C)
c.*220+5807C>G (n.*220+5807C>G)
c.423C>G (p.Ile141Met)
c.450C>G (p.Ile150Met)
c.1305C>G (p.Ile435Met)
c.1119C>G (p.Ile373Met)
c.1038C>G (p.Ile346Met)
c.744C>G (p.Ile248Met)
c.1125C>G (p.Ile375Met)
2g.48688417G>TCA426125250GTF2A1L,LHCGR,STON1-GTF2A1Lc.1380C>A (p.Ile460=)
c.948-278C>A (n.948-278C>A)
c.3441+16737G>T (n.3441+16737G>T)
c.*124C>A (n.*124C>A)
c.1299C>A (p.Ile433=)
c.276+16737G>T (n.276+16737G>T)
c.*220+5807C>A (n.*220+5807C>A)
c.423C>A (p.Ile141=)
c.450C>A (p.Ile150=)
c.1305C>A (p.Ile435=)
c.1119C>A (p.Ile373=)
c.1038C>A (p.Ile346=)
c.744C>A (p.Ile248=)
c.1125C>A (p.Ile375=)
2g.48688418A=CA1248601125GTF2A1L,LHCGR,STON1-GTF2A1Lc.1379T= (p.Ile460=)
c.948-279T= (n.948-279T=)
c.3441+16738A= (n.3441+16738A=)
c.*123T= (n.*123T=)
c.1298T= (p.Ile433=)
c.276+16738A= (n.276+16738A=)
c.*220+5806T= (n.*220+5806T=)
c.422T= (p.Ile141=)
c.449T= (p.Ile150=)
c.1304T= (p.Ile435=)
c.1118T= (p.Ile373=)
c.1037T= (p.Ile346=)
c.743T= (p.Ile248=)
c.1124T= (p.Ile375=)
2g.48688418A>CCA346747168GTF2A1L,LHCGR,STON1-GTF2A1Lc.1379T>G (p.Ile460Ser)
c.948-279T>G (n.948-279T>G)
c.3441+16738A>C (n.3441+16738A>C)
c.*123T>G (n.*123T>G)
c.1298T>G (p.Ile433Ser)
c.276+16738A>C (n.276+16738A>C)
c.*220+5806T>G (n.*220+5806T>G)
c.422T>G (p.Ile141Ser)
c.449T>G (p.Ile150Ser)
c.1304T>G (p.Ile435Ser)
c.1118T>G (p.Ile373Ser)
c.1037T>G (p.Ile346Ser)
c.743T>G (p.Ile248Ser)
c.1124T>G (p.Ile375Ser)
2g.48688418A>GCA346747169GTF2A1L,LHCGR,STON1-GTF2A1Lc.1379T>C (p.Ile460Thr)
c.948-279T>C (n.948-279T>C)
c.3441+16738A>G (n.3441+16738A>G)
c.*123T>C (n.*123T>C)
c.1298T>C (p.Ile433Thr)
c.276+16738A>G (n.276+16738A>G)
c.*220+5806T>C (n.*220+5806T>C)
c.422T>C (p.Ile141Thr)
c.449T>C (p.Ile150Thr)
c.1304T>C (p.Ile435Thr)
c.1118T>C (p.Ile373Thr)
c.1037T>C (p.Ile346Thr)
c.743T>C (p.Ile248Thr)
c.1124T>C (p.Ile375Thr)
 gnomAD v4
2g.48688418A>TCA1653037GTF2A1L,LHCGR,STON1-GTF2A1Lc.1379T>A (p.Ile460Asn)
c.948-279T>A (n.948-279T>A)
c.3441+16738A>T (n.3441+16738A>T)
c.*123T>A (n.*123T>A)
c.1298T>A (p.Ile433Asn)
c.276+16738A>T (n.276+16738A>T)
c.*220+5806T>A (n.*220+5806T>A)
c.422T>A (p.Ile141Asn)
c.449T>A (p.Ile150Asn)
c.1304T>A (p.Ile435Asn)
c.1118T>A (p.Ile373Asn)
c.1037T>A (p.Ile346Asn)
c.743T>A (p.Ile248Asn)
c.1124T>A (p.Ile375Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688419T>ACA346747184GTF2A1L,LHCGR,STON1-GTF2A1Lc.1378A>T (p.Ile460Phe)
c.948-280A>T (n.948-280A>T)
c.3441+16739T>A (n.3441+16739T>A)
c.*122A>T (n.*122A>T)
c.1297A>T (p.Ile433Phe)
c.276+16739T>A (n.276+16739T>A)
c.*220+5805A>T (n.*220+5805A>T)
c.421A>T (p.Ile141Phe)
c.448A>T (p.Ile150Phe)
c.1303A>T (p.Ile435Phe)
c.1117A>T (p.Ile373Phe)
c.1036A>T (p.Ile346Phe)
c.742A>T (p.Ile248Phe)
c.1123A>T (p.Ile375Phe)
2g.48688419T>CCA346747186GTF2A1L,LHCGR,STON1-GTF2A1Lc.1378A>G (p.Ile460Val)
c.948-280A>G (n.948-280A>G)
c.3441+16739T>C (n.3441+16739T>C)
c.*122A>G (n.*122A>G)
c.1297A>G (p.Ile433Val)
c.276+16739T>C (n.276+16739T>C)
c.*220+5805A>G (n.*220+5805A>G)
c.421A>G (p.Ile141Val)
c.448A>G (p.Ile150Val)
c.1303A>G (p.Ile435Val)
c.1117A>G (p.Ile373Val)
c.1036A>G (p.Ile346Val)
c.742A>G (p.Ile248Val)
c.1123A>G (p.Ile375Val)
2g.48688419T>GCA346747172GTF2A1L,LHCGR,STON1-GTF2A1Lc.1378A>C (p.Ile460Leu)
c.948-280A>C (n.948-280A>C)
c.3441+16739T>G (n.3441+16739T>G)
c.*122A>C (n.*122A>C)
c.1297A>C (p.Ile433Leu)
c.276+16739T>G (n.276+16739T>G)
c.*220+5805A>C (n.*220+5805A>C)
c.421A>C (p.Ile141Leu)
c.448A>C (p.Ile150Leu)
c.1303A>C (p.Ile435Leu)
c.1117A>C (p.Ile373Leu)
c.1036A>C (p.Ile346Leu)
c.742A>C (p.Ile248Leu)
c.1123A>C (p.Ile375Leu)
 gnomAD v4
2g.48688420G>ACA426125256GTF2A1L,LHCGR,STON1-GTF2A1Lc.1377C>T (p.Val459=)
c.948-281C>T (n.948-281C>T)
c.3441+16740G>A (n.3441+16740G>A)
c.*121C>T (n.*121C>T)
c.1296C>T (p.Val432=)
c.276+16740G>A (n.276+16740G>A)
c.*220+5804C>T (n.*220+5804C>T)
c.420C>T (p.Val140=)
c.447C>T (p.Val149=)
c.1302C>T (p.Val434=)
c.1116C>T (p.Val372=)
c.1035C>T (p.Val345=)
c.741C>T (p.Val247=)
c.1122C>T (p.Val374=)
 gnomAD v4
2g.48688420G>CCA426125259GTF2A1L,LHCGR,STON1-GTF2A1Lc.1377C>G (p.Val459=)
c.948-281C>G (n.948-281C>G)
c.3441+16740G>C (n.3441+16740G>C)
c.*121C>G (n.*121C>G)
c.1296C>G (p.Val432=)
c.276+16740G>C (n.276+16740G>C)
c.*220+5804C>G (n.*220+5804C>G)
c.420C>G (p.Val140=)
c.447C>G (p.Val149=)
c.1302C>G (p.Val434=)
c.1116C>G (p.Val372=)
c.1035C>G (p.Val345=)
c.741C>G (p.Val247=)
c.1122C>G (p.Val374=)
 gnomAD v4
2g.48688420G>TCA426125257GTF2A1L,LHCGR,STON1-GTF2A1Lc.1377C>A (p.Val459=)
c.948-281C>A (n.948-281C>A)
c.3441+16740G>T (n.3441+16740G>T)
c.*121C>A (n.*121C>A)
c.1296C>A (p.Val432=)
c.276+16740G>T (n.276+16740G>T)
c.*220+5804C>A (n.*220+5804C>A)
c.420C>A (p.Val140=)
c.447C>A (p.Val149=)
c.1302C>A (p.Val434=)
c.1116C>A (p.Val372=)
c.1035C>A (p.Val345=)
c.741C>A (p.Val247=)
c.1122C>A (p.Val374=)
2g.48688421A>CCA346747188GTF2A1L,LHCGR,STON1-GTF2A1Lc.1376T>G (p.Val459Gly)
c.948-282T>G (n.948-282T>G)
c.3441+16741A>C (n.3441+16741A>C)
c.*120T>G (n.*120T>G)
c.1295T>G (p.Val432Gly)
c.276+16741A>C (n.276+16741A>C)
c.*220+5803T>G (n.*220+5803T>G)
c.419T>G (p.Val140Gly)
c.446T>G (p.Val149Gly)
c.1301T>G (p.Val434Gly)
c.1115T>G (p.Val372Gly)
c.1034T>G (p.Val345Gly)
c.740T>G (p.Val247Gly)
c.1121T>G (p.Val374Gly)
2g.48688421A>GCA346747190GTF2A1L,LHCGR,STON1-GTF2A1Lc.1376T>C (p.Val459Ala)
c.948-282T>C (n.948-282T>C)
c.3441+16741A>G (n.3441+16741A>G)
c.*120T>C (n.*120T>C)
c.1295T>C (p.Val432Ala)
c.276+16741A>G (n.276+16741A>G)
c.*220+5803T>C (n.*220+5803T>C)
c.419T>C (p.Val140Ala)
c.446T>C (p.Val149Ala)
c.1301T>C (p.Val434Ala)
c.1115T>C (p.Val372Ala)
c.1034T>C (p.Val345Ala)
c.740T>C (p.Val247Ala)
c.1121T>C (p.Val374Ala)
2g.48688421A>TCA346747197GTF2A1L,LHCGR,STON1-GTF2A1Lc.1376T>A (p.Val459Asp)
c.948-282T>A (n.948-282T>A)
c.3441+16741A>T (n.3441+16741A>T)
c.*120T>A (n.*120T>A)
c.1295T>A (p.Val432Asp)
c.276+16741A>T (n.276+16741A>T)
c.*220+5803T>A (n.*220+5803T>A)
c.419T>A (p.Val140Asp)
c.446T>A (p.Val149Asp)
c.1301T>A (p.Val434Asp)
c.1115T>A (p.Val372Asp)
c.1034T>A (p.Val345Asp)
c.740T>A (p.Val247Asp)
c.1121T>A (p.Val374Asp)
2g.48688422C>ACA346747199GTF2A1L,LHCGR,STON1-GTF2A1Lc.1375G>T (p.Val459Phe)
c.948-283G>T (n.948-283G>T)
c.3441+16742C>A (n.3441+16742C>A)
c.*119G>T (n.*119G>T)
c.1294G>T (p.Val432Phe)
c.276+16742C>A (n.276+16742C>A)
c.*220+5802G>T (n.*220+5802G>T)
c.418G>T (p.Val140Phe)
c.445G>T (p.Val149Phe)
c.1300G>T (p.Val434Phe)
c.1114G>T (p.Val372Phe)
c.1033G>T (p.Val345Phe)
c.739G>T (p.Val247Phe)
c.1120G>T (p.Val374Phe)
 dbSNP
2g.48688422C=CA1248601126GTF2A1L,LHCGR,STON1-GTF2A1Lc.1375G= (p.Val459=)
c.948-283G= (n.948-283G=)
c.3441+16742C= (n.3441+16742C=)
c.*119G= (n.*119G=)
c.1294G= (p.Val432=)
c.276+16742C= (n.276+16742C=)
c.*220+5802G= (n.*220+5802G=)
c.418G= (p.Val140=)
c.445G= (p.Val149=)
c.1300G= (p.Val434=)
c.1114G= (p.Val372=)
c.1033G= (p.Val345=)
c.739G= (p.Val247=)
c.1120G= (p.Val374=)
2g.48688422C>GCA346747200GTF2A1L,LHCGR,STON1-GTF2A1Lc.1375G>C (p.Val459Leu)
c.948-283G>C (n.948-283G>C)
c.3441+16742C>G (n.3441+16742C>G)
c.*119G>C (n.*119G>C)
c.1294G>C (p.Val432Leu)
c.276+16742C>G (n.276+16742C>G)
c.*220+5802G>C (n.*220+5802G>C)
c.418G>C (p.Val140Leu)
c.445G>C (p.Val149Leu)
c.1300G>C (p.Val434Leu)
c.1114G>C (p.Val372Leu)
c.1033G>C (p.Val345Leu)
c.739G>C (p.Val247Leu)
c.1120G>C (p.Val374Leu)
2g.48688422C>TCA1653038GTF2A1L,LHCGR,STON1-GTF2A1Lc.1375G>A (p.Val459Ile)
c.948-283G>A (n.948-283G>A)
c.3441+16742C>T (n.3441+16742C>T)
c.*119G>A (n.*119G>A)
c.1294G>A (p.Val432Ile)
c.276+16742C>T (n.276+16742C>T)
c.*220+5802G>A (n.*220+5802G>A)
c.418G>A (p.Val140Ile)
c.445G>A (p.Val149Ile)
c.1300G>A (p.Val434Ile)
c.1114G>A (p.Val372Ile)
c.1033G>A (p.Val345Ile)
c.739G>A (p.Val247Ile)
c.1120G>A (p.Val374Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.48688423G>ACA1653039GTF2A1L,LHCGR,STON1-GTF2A1Lc.1374C>T (p.Thr458=)
c.948-284C>T (n.948-284C>T)
c.3441+16743G>A (n.3441+16743G>A)
c.*118C>T (n.*118C>T)
c.1293C>T (p.Thr431=)
c.276+16743G>A (n.276+16743G>A)
c.*220+5801C>T (n.*220+5801C>T)
c.417C>T (p.Thr139=)
c.444C>T (p.Thr148=)
c.1299C>T (p.Thr433=)
c.1113C>T (p.Thr371=)
c.1032C>T (p.Thr344=)
c.738C>T (p.Thr246=)
c.1119C>T (p.Thr373=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.48688423G>CCA426125273GTF2A1L,LHCGR,STON1-GTF2A1Lc.1374C>G (p.Thr458=)
c.948-284C>G (n.948-284C>G)
c.3441+16743G>C (n.3441+16743G>C)
c.*118C>G (n.*118C>G)
c.1293C>G (p.Thr431=)
c.276+16743G>C (n.276+16743G>C)
c.*220+5801C>G (n.*220+5801C>G)
c.417C>G (p.Thr139=)
c.444C>G (p.Thr148=)
c.1299C>G (p.Thr433=)
c.1113C>G (p.Thr371=)
c.1032C>G (p.Thr344=)
c.738C>G (p.Thr246=)
c.1119C>G (p.Thr373=)
2g.48688423G=CA1248601127GTF2A1L,LHCGR,STON1-GTF2A1Lc.1374C= (p.Thr458=)
c.948-284C= (n.948-284C=)
c.3441+16743G= (n.3441+16743G=)
c.*118C= (n.*118C=)
c.1293C= (p.Thr431=)
c.276+16743G= (n.276+16743G=)
c.*220+5801C= (n.*220+5801C=)
c.417C= (p.Thr139=)
c.444C= (p.Thr148=)
c.1299C= (p.Thr433=)
c.1113C= (p.Thr371=)
c.1032C= (p.Thr344=)
c.738C= (p.Thr246=)
c.1119C= (p.Thr373=)
2g.48688423G>TCA426125274GTF2A1L,LHCGR,STON1-GTF2A1Lc.1374C>A (p.Thr458=)
c.948-284C>A (n.948-284C>A)
c.3441+16743G>T (n.3441+16743G>T)
c.*118C>A (n.*118C>A)
c.1293C>A (p.Thr431=)
c.276+16743G>T (n.276+16743G>T)
c.*220+5801C>A (n.*220+5801C>A)
c.417C>A (p.Thr139=)
c.444C>A (p.Thr148=)
c.1299C>A (p.Thr433=)
c.1113C>A (p.Thr371=)
c.1032C>A (p.Thr344=)
c.738C>A (p.Thr246=)
c.1119C>A (p.Thr373=)
2g.48688424G>ACA346747206GTF2A1L,LHCGR,STON1-GTF2A1Lc.1373C>T (p.Thr458Ile)
c.948-285C>T (n.948-285C>T)
c.3441+16744G>A (n.3441+16744G>A)
c.*117C>T (n.*117C>T)
c.1292C>T (p.Thr431Ile)
c.276+16744G>A (n.276+16744G>A)
c.*220+5800C>T (n.*220+5800C>T)
c.416C>T (p.Thr139Ile)
c.443C>T (p.Thr148Ile)
c.1298C>T (p.Thr433Ile)
c.1112C>T (p.Thr371Ile)
c.1031C>T (p.Thr344Ile)
c.737C>T (p.Thr246Ile)
c.1118C>T (p.Thr373Ile)
2g.48688424G>CCA346747207GTF2A1L,LHCGR,STON1-GTF2A1Lc.1373C>G (p.Thr458Ser)
c.948-285C>G (n.948-285C>G)
c.3441+16744G>C (n.3441+16744G>C)
c.*117C>G (n.*117C>G)
c.1292C>G (p.Thr431Ser)
c.276+16744G>C (n.276+16744G>C)
c.*220+5800C>G (n.*220+5800C>G)
c.416C>G (p.Thr139Ser)
c.443C>G (p.Thr148Ser)
c.1298C>G (p.Thr433Ser)
c.1112C>G (p.Thr371Ser)
c.1031C>G (p.Thr344Ser)
c.737C>G (p.Thr246Ser)
c.1118C>G (p.Thr373Ser)
 gnomAD v4
2g.48688424G>TCA346747210GTF2A1L,LHCGR,STON1-GTF2A1Lc.1373C>A (p.Thr458Asn)
c.948-285C>A (n.948-285C>A)
c.3441+16744G>T (n.3441+16744G>T)
c.*117C>A (n.*117C>A)
c.1292C>A (p.Thr431Asn)
c.276+16744G>T (n.276+16744G>T)
c.*220+5800C>A (n.*220+5800C>A)
c.416C>A (p.Thr139Asn)
c.443C>A (p.Thr148Asn)
c.1298C>A (p.Thr433Asn)
c.1112C>A (p.Thr371Asn)
c.1031C>A (p.Thr344Asn)
c.737C>A (p.Thr246Asn)
c.1118C>A (p.Thr373Asn)
2g.48688425T>ACA346747212GTF2A1L,LHCGR,STON1-GTF2A1Lc.1372A>T (p.Thr458Ser)
c.948-286A>T (n.948-286A>T)
c.3441+16745T>A (n.3441+16745T>A)
c.*116A>T (n.*116A>T)
c.1291A>T (p.Thr431Ser)
c.276+16745T>A (n.276+16745T>A)
c.*220+5799A>T (n.*220+5799A>T)
c.415A>T (p.Thr139Ser)
c.442A>T (p.Thr148Ser)
c.1297A>T (p.Thr433Ser)
c.1111A>T (p.Thr371Ser)
c.1030A>T (p.Thr344Ser)
c.736A>T (p.Thr246Ser)
c.1117A>T (p.Thr373Ser)
2g.48688425T>CCA346747214GTF2A1L,LHCGR,STON1-GTF2A1Lc.1372A>G (p.Thr458Ala)
c.948-286A>G (n.948-286A>G)
c.3441+16745T>C (n.3441+16745T>C)
c.*116A>G (n.*116A>G)
c.1291A>G (p.Thr431Ala)
c.276+16745T>C (n.276+16745T>C)
c.*220+5799A>G (n.*220+5799A>G)
c.415A>G (p.Thr139Ala)
c.442A>G (p.Thr148Ala)
c.1297A>G (p.Thr433Ala)
c.1111A>G (p.Thr371Ala)
c.1030A>G (p.Thr344Ala)
c.736A>G (p.Thr246Ala)
c.1117A>G (p.Thr373Ala)
 gnomAD v4
2g.48688425T>GCA346747215GTF2A1L,LHCGR,STON1-GTF2A1Lc.1372A>C (p.Thr458Pro)
c.948-286A>C (n.948-286A>C)
c.3441+16745T>G (n.3441+16745T>G)
c.*116A>C (n.*116A>C)
c.1291A>C (p.Thr431Pro)
c.276+16745T>G (n.276+16745T>G)
c.*220+5799A>C (n.*220+5799A>C)
c.415A>C (p.Thr139Pro)
c.442A>C (p.Thr148Pro)
c.1297A>C (p.Thr433Pro)
c.1111A>C (p.Thr371Pro)
c.1030A>C (p.Thr344Pro)
c.736A>C (p.Thr246Pro)
c.1117A>C (p.Thr373Pro)
2g.48688426G>ACA426125283GTF2A1L,LHCGR,STON1-GTF2A1Lc.1371C>T (p.Leu457=)
c.948-287C>T (n.948-287C>T)
c.3441+16746G>A (n.3441+16746G>A)
c.*115C>T (n.*115C>T)
c.1290C>T (p.Leu430=)
c.276+16746G>A (n.276+16746G>A)
c.*220+5798C>T (n.*220+5798C>T)
c.414C>T (p.Leu138=)
c.441C>T (p.Leu147=)
c.1296C>T (p.Leu432=)
c.1110C>T (p.Leu370=)
c.1029C>T (p.Leu343=)
c.735C>T (p.Leu245=)
c.1116C>T (p.Leu372=)
2g.48688426G>CCA426125284GTF2A1L,LHCGR,STON1-GTF2A1Lc.1371C>G (p.Leu457=)
c.948-287C>G (n.948-287C>G)
c.3441+16746G>C (n.3441+16746G>C)
c.*115C>G (n.*115C>G)
c.1290C>G (p.Leu430=)
c.276+16746G>C (n.276+16746G>C)
c.*220+5798C>G (n.*220+5798C>G)
c.414C>G (p.Leu138=)
c.441C>G (p.Leu147=)
c.1296C>G (p.Leu432=)
c.1110C>G (p.Leu370=)
c.1029C>G (p.Leu343=)
c.735C>G (p.Leu245=)
c.1116C>G (p.Leu372=)
 dbSNP gnomAD v2 gnomAD v4
2g.48688426G=CA1248601128GTF2A1L,LHCGR,STON1-GTF2A1Lc.1371C= (p.Leu457=)
c.948-287C= (n.948-287C=)
c.3441+16746G= (n.3441+16746G=)
c.*115C= (n.*115C=)
c.1290C= (p.Leu430=)
c.276+16746G= (n.276+16746G=)
c.*220+5798C= (n.*220+5798C=)
c.414C= (p.Leu138=)
c.441C= (p.Leu147=)
c.1296C= (p.Leu432=)
c.1110C= (p.Leu370=)
c.1029C= (p.Leu343=)
c.735C= (p.Leu245=)
c.1116C= (p.Leu372=)
2g.48688426G>TCA426125286GTF2A1L,LHCGR,STON1-GTF2A1Lc.1371C>A (p.Leu457=)
c.948-287C>A (n.948-287C>A)
c.3441+16746G>T (n.3441+16746G>T)
c.*115C>A (n.*115C>A)
c.1290C>A (p.Leu430=)
c.276+16746G>T (n.276+16746G>T)
c.*220+5798C>A (n.*220+5798C>A)
c.414C>A (p.Leu138=)
c.441C>A (p.Leu147=)
c.1296C>A (p.Leu432=)
c.1110C>A (p.Leu370=)
c.1029C>A (p.Leu343=)
c.735C>A (p.Leu245=)
c.1116C>A (p.Leu372=)
 dbSNP gnomAD v2

Number of alleles fetched