| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.48688327T>A | CA426125028 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
| 2 | g.48688327T>C | CA426125029 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
| 2 | g.48688327T>G | CA426125031 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
| 2 | g.48688328C>A | CA346746815 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
| 2 | g.48688328C>G | CA346746818 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
| 2 | g.48688328C>T | CA346746820 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
| 2 | g.48688329C>A | CA346746825 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
| 2 | g.48688329C= | CA1248601083 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
| 2 | g.48688329C>G | CA346746826 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
| 2 | g.48688329C>T | CA346746827 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
| 2 | g.48688330T>A | CA426125037 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
| 2 | g.48688330T>C | CA426125038 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
| 2 | g.48688330T>G | CA426125039 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
| 2 | g.48688330T= | CA1248601085 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
| 2 | g.48688330_48688331insGATT | CA1248601084 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
| 2 | g.48688331C>A | CA346746834 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
| 2 | g.48688331C= | CA1248601086 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
| 2 | g.48688331C>G | CA346746832 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
| 2 | g.48688331C>T | CA346746829 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
| 2 | g.48688331_48688332insT | CA1248601088 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
| 2 | g.48688332C>A | CA346746837 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
| 2 | g.48688332C= | CA1248601087 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
| 2 | g.48688332C>G | CA346746839 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
| 2 | g.48688332C>T | CA346746842 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
| 2 | g.48688333A>C | CA426125046 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
| 2 | g.48688333A>G | CA426125047 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
| 2 | g.48688333A>T | CA426125048 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
| 2 | g.48688334A= | CA1248601089 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
| 2 | g.48688334A>C | CA346746847 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
| 2 | g.48688334A>G | CA346746848 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
| 2 | g.48688334A>T | CA346746849 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
| 2 | g.48688334_48688348delinsAGCATAATCAGAATG | CA1248601090 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
| 2 | g.48688334_48688335insT | CA1248601091 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
| 2 | g.48688335G>A | CA346746851 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
| 2 | g.48688335G>C | CA346746854 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
| 2 | g.48688335G>T | CA346746855 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
| 2 | g.48688339_48688352del | CA1248601092 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
| 2 | g.48688336C>A | CA346746859 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
| 2 | g.48688336C>G | CA346746861 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
| 2 | g.48688336C>T | CA346746864 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
| 2 | g.48688337A>C | CA346746873 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
| 2 | g.48688337A>G | CA346746871 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
| 2 | g.48688337A>T | CA346746867 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
| 2 | g.48688338T>A | CA346746875 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
| 2 | g.48688338T>C | CA346746878 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
| 2 | g.48688338T>G | CA346746876 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
| 2 | g.48688339A= | CA1248601093 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
| 2 | g.48688339A>C | CA46752962 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
| 2 | g.48688339A>G | CA426125050 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
| 2 | g.48688339A>T | CA426125052 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) |