Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)

Number of alleles fetched