Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.48688323G>A | CA346746793 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1474C>T (p.Leu492Phe) c.948-184C>T (n.948-184C>T) c.3441+16643G>A (n.3441+16643G>A) c.*218C>T (n.*218C>T) c.1393C>T (p.Leu465Phe) c.276+16643G>A (n.276+16643G>A) c.*220+5901C>T (n.*220+5901C>T) c.517C>T (p.Leu173Phe) c.544C>T (p.Leu182Phe) c.1399C>T (p.Leu467Phe) c.1213C>T (p.Leu405Phe) c.1132C>T (p.Leu378Phe) c.838C>T (p.Leu280Phe) c.1219C>T (p.Leu407Phe) | |
2 | g.48688323G>C | CA346746795 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1474C>G (p.Leu492Val) c.948-184C>G (n.948-184C>G) c.3441+16643G>C (n.3441+16643G>C) c.*218C>G (n.*218C>G) c.1393C>G (p.Leu465Val) c.276+16643G>C (n.276+16643G>C) c.*220+5901C>G (n.*220+5901C>G) c.517C>G (p.Leu173Val) c.544C>G (p.Leu182Val) c.1399C>G (p.Leu467Val) c.1213C>G (p.Leu405Val) c.1132C>G (p.Leu378Val) c.838C>G (p.Leu280Val) c.1219C>G (p.Leu407Val) | |
2 | g.48688323G= | CA1248601081 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1474C= (p.Leu492=) c.948-184C= (n.948-184C=) c.3441+16643G= (n.3441+16643G=) c.*218C= (n.*218C=) c.1393C= (p.Leu465=) c.276+16643G= (n.276+16643G=) c.*220+5901C= (n.*220+5901C=) c.517C= (p.Leu173=) c.544C= (p.Leu182=) c.1399C= (p.Leu467=) c.1213C= (p.Leu405=) c.1132C= (p.Leu378=) c.838C= (p.Leu280=) c.1219C= (p.Leu407=) | |
2 | g.48688323G>T | CA346746797 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1474C>A (p.Leu492Ile) c.948-184C>A (n.948-184C>A) c.3441+16643G>T (n.3441+16643G>T) c.*218C>A (n.*218C>A) c.1393C>A (p.Leu465Ile) c.276+16643G>T (n.276+16643G>T) c.*220+5901C>A (n.*220+5901C>A) c.517C>A (p.Leu173Ile) c.544C>A (p.Leu182Ile) c.1399C>A (p.Leu467Ile) c.1213C>A (p.Leu405Ile) c.1132C>A (p.Leu378Ile) c.838C>A (p.Leu280Ile) c.1219C>A (p.Leu407Ile) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48688324C>A | CA346746801 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1473G>T (p.Trp491Cys) c.948-185G>T (n.948-185G>T) c.3441+16644C>A (n.3441+16644C>A) c.*217G>T (n.*217G>T) c.1392G>T (p.Trp464Cys) c.276+16644C>A (n.276+16644C>A) c.*220+5900G>T (n.*220+5900G>T) c.516G>T (p.Trp172Cys) c.543G>T (p.Trp181Cys) c.1398G>T (p.Trp466Cys) c.1212G>T (p.Trp404Cys) c.1131G>T (p.Trp377Cys) c.837G>T (p.Trp279Cys) c.1218G>T (p.Trp406Cys) | |
2 | g.48688324C>G | CA346746802 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1473G>C (p.Trp491Cys) c.948-185G>C (n.948-185G>C) c.3441+16644C>G (n.3441+16644C>G) c.*217G>C (n.*217G>C) c.1392G>C (p.Trp464Cys) c.276+16644C>G (n.276+16644C>G) c.*220+5900G>C (n.*220+5900G>C) c.516G>C (p.Trp172Cys) c.543G>C (p.Trp181Cys) c.1398G>C (p.Trp466Cys) c.1212G>C (p.Trp404Cys) c.1131G>C (p.Trp377Cys) c.837G>C (p.Trp279Cys) c.1218G>C (p.Trp406Cys) | |
2 | g.48688324C>T | CA346746799 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1473G>A (p.Trp491Ter) c.948-185G>A (n.948-185G>A) c.3441+16644C>T (n.3441+16644C>T) c.*217G>A (n.*217G>A) c.1392G>A (p.Trp464Ter) c.276+16644C>T (n.276+16644C>T) c.*220+5900G>A (n.*220+5900G>A) c.516G>A (p.Trp172Ter) c.543G>A (p.Trp181Ter) c.1398G>A (p.Trp466Ter) c.1212G>A (p.Trp404Ter) c.1131G>A (p.Trp377Ter) c.837G>A (p.Trp279Ter) c.1218G>A (p.Trp406Ter) | |
2 | g.48688325C>A | CA346746805 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1472G>T (p.Trp491Leu) c.948-186G>T (n.948-186G>T) c.3441+16645C>A (n.3441+16645C>A) c.*216G>T (n.*216G>T) c.1391G>T (p.Trp464Leu) c.276+16645C>A (n.276+16645C>A) c.*220+5899G>T (n.*220+5899G>T) c.515G>T (p.Trp172Leu) c.542G>T (p.Trp181Leu) c.1397G>T (p.Trp466Leu) c.1211G>T (p.Trp404Leu) c.1130G>T (p.Trp377Leu) c.836G>T (p.Trp279Leu) c.1217G>T (p.Trp406Leu) | |
2 | g.48688325C>G | CA346746807 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1472G>C (p.Trp491Ser) c.948-186G>C (n.948-186G>C) c.3441+16645C>G (n.3441+16645C>G) c.*216G>C (n.*216G>C) c.1391G>C (p.Trp464Ser) c.276+16645C>G (n.276+16645C>G) c.*220+5899G>C (n.*220+5899G>C) c.515G>C (p.Trp172Ser) c.542G>C (p.Trp181Ser) c.1397G>C (p.Trp466Ser) c.1211G>C (p.Trp404Ser) c.1130G>C (p.Trp377Ser) c.836G>C (p.Trp279Ser) c.1217G>C (p.Trp406Ser) | |
2 | g.48688325C>T | CA346746810 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1472G>A (p.Trp491Ter) c.948-186G>A (n.948-186G>A) c.3441+16645C>T (n.3441+16645C>T) c.*216G>A (n.*216G>A) c.1391G>A (p.Trp464Ter) c.276+16645C>T (n.276+16645C>T) c.*220+5899G>A (n.*220+5899G>A) c.515G>A (p.Trp172Ter) c.542G>A (p.Trp181Ter) c.1397G>A (p.Trp466Ter) c.1211G>A (p.Trp404Ter) c.1130G>A (p.Trp377Ter) c.836G>A (p.Trp279Ter) c.1217G>A (p.Trp406Ter) | |
2 | g.48688326A= | CA1248601082 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688326A>C | CA346746811 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688326A>G | CA16617732 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688326A>T | CA346746813 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
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=) | |
2 | g.48688339_48688340insCCC | CA2749836837 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688340A>C | CA346746883 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688340A>G | CA346746881 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688340A>T | CA346746882 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688341T>A | CA346746885 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688341T>C | CA346746886 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688341T>G | CA346746887 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688342C>A | CA426125059 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688342C>G | CA426125060 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688342C>T | CA426125061 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688343A= | CA1248601094 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688343A>C | CA346746890 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688343A>G | CA346746891 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688343A>T | CA346746892 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688344G>A | CA426125062 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688344G>C | CA346746894 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688344G= | CA1248601095 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688344G>T | CA1653024 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688345A>C | CA346746897 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688345A>G | CA426125065 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688345A>T | CA426125064 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688346A>C | CA346746902 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688346A>G | CA346746899 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688346A>T | CA346746900 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688347T>A | CA346746904 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688347T>C | CA346746905 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688347T>G | CA1653025 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688347T= | CA1248601096 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688348G>A | CA426125069 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688348G>C | CA426125070 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688348G>T | CA426125071 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688349G>A | CA1653026 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688349G>C | CA346746907 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688349G= | CA1248601097 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688349G>T | CA346746909 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688350C>A | CA346746910 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688350C>G | CA346746911 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688350C>T | CA346746913 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688351A= | CA1248601098 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688351A>C | CA346746915 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688351A>G | CA426125073 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688351A>T | CA346746917 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688352T>A | CA346746920 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688352T>C | CA346746922 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688352T>G | CA346746918 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688352T= | CA1248601099 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688353G>A | CA346746924 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688353G>C | CA346746925 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688353G= | CA1248601100 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688353G>T | CA346746927 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688354T>A | CA346746929 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688354T>C | CA426125078 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688354T>G | CA346746930 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688355C>A | CA346746932 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688355C>G | CA346746933 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688355C>T | CA346746935 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688356T>A | CA346746937 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688356T>C | CA346746939 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688356T>G | CA426125082 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688357T>A | CA346746940 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688357T>C | CA426125085 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688357T>G | CA346746941 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688358A>C | CA346746947 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688358A>G | CA346746944 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688358A>T | CA346746945 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688359A>C | CA346746948 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688359A>G | CA426125088 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688359A>T | CA346746949 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688360T>A | CA426125089 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688360T>C | CA426125090 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688360T>G | CA1653027 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688360T= | CA1248601101 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688361C>A | CA346746952 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688361C= | CA1248601102 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688361C>G | CA346746954 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688361C>T | CA1653028 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688362G>A | CA1653029 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688362G>C | CA346746957 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688362G= | CA1248601103 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688362G>T | CA426125094 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688363C>A | CA426125095 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688363C>G | CA426125097 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688363C>T | CA426125099 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688364A>C | CA346746959 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688364A>G | CA346746961 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688364A>T | CA346746962 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688365G>A | CA426125103 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688365G>C | CA346746963 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688365G>T | CA346746965 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688366C>A | CA346746966 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688366C>G | CA346746967 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688366C>T | CA426125105 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688367T>A | CA346746968 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688367T>C | CA346746970 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688367T>G | CA346746969 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688368T>A | CA346746972 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688368T>C | CA346746974 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688368T>G | CA346746975 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688368T= | CA1248601104 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688369T>A | CA346746977 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688369T>C | CA426125106 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688369T>G | CA346746978 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688370T>A | CA346746983 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688370T>C | CA346746984 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688370T>G | CA346746985 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688371G>A | CA346746987 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688371G>C | CA346746988 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688371G= | CA1248601105 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688371G>T | CA1653030 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688372G>A | CA426125115 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688372G>C | CA346746990 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688372G>T | CA346746991 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688373T>A | CA346746992 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688373T>C | CA346746994 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688373T>G | CA346746993 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688374C>A | CA346746996 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688374C>G | CA346746998 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688374C>T | CA346746999 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688375C>A | CA426125120 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688375C= | CA1248601106 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688375C>G | CA426125121 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688375C>T | CA426125122 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688376A>C | CA346747002 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688376A>G | CA346747003 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688376A>T | CA346747004 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688377G>A | CA426125125 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688377G>C | CA346747006 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688377G>T | CA346747007 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688378G>A | CA426125127 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688378G>C | CA346747009 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688378G>T | CA346747010 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688379T>A | CA346747015 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688379T>C | CA346747013 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688379T>G | CA346747011 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688380G>A | CA1653031 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688380G>C | CA346747017 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688380G= | CA1248601107 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688380G>T | CA346747018 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688381A= | CA1248601108 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688381A>C | CA346747019 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688381A>G | CA1653032 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688381A>T | CA426125133 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688382A>C | CA346747026 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688382A>G | CA346747024 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688382A>T | CA346747021 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688384_48688419del | CA2658992085 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688383T>A | CA346747028 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688383T>C | CA1653033 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688383T>G | CA346747029 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688383T= | CA1248601109 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688384A>C | CA426125135 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688384A>G | CA426125136 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688384A>T | CA426125137 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688385G>A | CA346747033 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688385G>C | CA346747034 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688385G= | CA1248601110 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688385G>T | CA346747035 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688386C>A | CA346747036 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688386C>G | CA346747039 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688386C>T | CA346747037 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688387A= | CA1248601111 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688387A>C | CA346747040 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688387A>G | CA426125141 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688387A>T | CA346747042 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688388T>A | CA346747044 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688388T>C | CA46752990 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688388T>G | CA346747045 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688388T= | CA1248601112 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688389A= | CA1248601113 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688389A>C | CA346747047 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688389A>G | CA1653034 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688389A>T | CA346747050 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688390G>A | CA426125146 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688390G>C | CA426125147 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688390G>T | CA426125148 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688391G>A | CA346747051 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688391G>C | CA346747052 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688391G= | CA1248601114 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688391G>T | CA346747053 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688392T>A | CA346747056 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688392T>C | CA346747057 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688392T>G | CA346747055 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688393G>A | CA426125162 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688393G>C | CA346747059 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688393G= | CA1248601115 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688393G>T | CA426125154 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688394A>C | CA346747062 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688394A>G | CA346747064 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688394A>T | CA346747063 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688395T>A | CA346747066 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688395T>C | CA346747067 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688395T>G | CA346747069 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688396G>A | CA426125169 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688396G>C | CA426125171 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688396G= | CA1248601116 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688396G>T | CA426125172 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688397G>A | CA46752991 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688397G>C | CA346747073 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688397G= | CA1248601117 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688397G>T | CA346747075 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688398T>A | CA346747079 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688398T>C | CA346747076 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688398T>G | CA346747077 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688399G>A | CA426125179 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688399G>C | CA346747083 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688399G= | CA1248601118 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688399G>T | CA346747084 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688400T>A | CA346747086 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688400T>C | CA346747088 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688400T>G | CA346747091 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688401G>A | CA346747094 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688401G>C | CA346747099 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688401G>T | CA346747096 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688402C>A | CA346747100 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688402C= | CA1248601119 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688402C>G | CA346747102 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688402C>T | CA346747104 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688403C>A | CA346747108 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688403C>G | CA346747109 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688403C>T | CA346747111 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688404A>C | CA346747114 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688404A>G | CA346747115 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688404A>T | CA346747118 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688405T>A | CA1653035 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688405T>C | CA426125200 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688405T>G | CA346747121 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688405T= | CA1248601120 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688406C>A | CA346747123 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688406C= | CA1248601121 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688406C>G | CA346747128 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688406C>T | CA346747124 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688407T>A | CA346747130 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688407T>C | CA346747132 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688407T>G | CA426125209 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688408T>A | CA346747134 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688408T>C | CA426125216 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688408T>G | CA346747135 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688408T= | CA1248601122 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688409T>A | CA346747136 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688409T>C | CA346747137 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688409T>G | CA346747138 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688410C>A | CA346747139 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688410C= | CA1248601123 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688410C>G | CA346747142 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688410C>T | CA346747143 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688411T>A | CA426125220 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688411T>C | CA426125223 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688411T>G | CA426125225 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688412A>C | CA346747150 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688412A>G | CA346747148 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688412A>T | CA346747146 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688413G>A | CA426125237 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688413G>C | CA346747153 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688413G>T | CA346747154 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688414A>C | CA426125238 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688414A>G | CA426125239 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688414A>T | CA426125242 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688415G>A | CA346747157 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688415G>C | CA346747159 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688415G= | CA1248601124 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688415G>T | CA1653036 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688416T>A | CA346747162 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688416T>C | CA346747163 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688416T>G | CA346747165 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688417G>A | CA426125246 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688417G>C | CA346747166 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688417G>T | CA426125250 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688418A= | CA1248601125 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688418A>C | CA346747168 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688418A>G | CA346747169 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688418A>T | CA1653037 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688419T>A | CA346747184 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688419T>C | CA346747186 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688419T>G | CA346747172 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688420G>A | CA426125256 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688420G>C | CA426125259 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688420G>T | CA426125257 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688421A>C | CA346747188 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688421A>G | CA346747190 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688421A>T | CA346747197 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688422C>A | CA346747199 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688422C= | CA1248601126 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688422C>G | CA346747200 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688422C>T | CA1653038 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688423G>A | CA1653039 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688423G>C | CA426125273 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688423G= | CA1248601127 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688423G>T | CA426125274 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) |