Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.48688191_48688192delinsCA | CA1248601026 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1605_1606delinsTG (p.Asn535=) c.948-53_948-52delinsTG (n.948-53_948-52delinsTG) c.3441+16511_3441+16512delinsCA (n.3441+16511_3441+16512delinsCA) c.*349_*350delinsTG (n.*349_*350delinsTG) c.1524_1525delinsTG (p.Asn508=) c.276+16511_276+16512delinsCA (n.276+16511_276+16512delinsCA) c.*220+6032_*220+6033delinsTG (n.*220+6032_*220+6033delinsTG) c.648_649delinsTG (p.Asn216=) c.675_676delinsTG (p.Asn225=) c.1530_1531delinsTG (p.Asn510=) c.1344_1345delinsTG (p.Asn448=) c.1263_1264delinsTG (p.Asn421=) c.969_970delinsTG (p.Asn323=) c.1350_1351delinsTG (p.Asn450=) | |
2 | g.48688192del | CA532706165 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1605del (p.Asn535LysfsTer7) c.948-53del (n.948-53del) c.3441+16512del (n.3441+16512del) c.*349del (n.*349del) c.1524del (p.Asn508LysfsTer7) c.276+16512del (n.276+16512del) c.*220+6032del (n.*220+6032del) c.648del (p.Asn216LysfsTer7) c.675del (p.Asn225LysfsTer7) c.1530del (p.Asn510LysfsTer7) c.1344del (p.Asn448LysfsTer7) c.1263del (p.Asn421LysfsTer7) c.969del (p.Asn323LysfsTer7) c.1350del (p.Asn450LysfsTer7) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48688192A= | CA1248601027 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1605T= (p.Asn535=) c.948-53T= (n.948-53T=) c.3441+16512A= (n.3441+16512A=) c.*349T= (n.*349T=) c.1524T= (p.Asn508=) c.276+16512A= (n.276+16512A=) c.*220+6032T= (n.*220+6032T=) c.648T= (p.Asn216=) c.675T= (p.Asn225=) c.1530T= (p.Asn510=) c.1344T= (p.Asn448=) c.1263T= (p.Asn421=) c.969T= (p.Asn323=) c.1350T= (p.Asn450=) | |
2 | g.48688192A>C | CA346745906 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1605T>G (p.Asn535Lys) c.948-53T>G (n.948-53T>G) c.3441+16512A>C (n.3441+16512A>C) c.*349T>G (n.*349T>G) c.1524T>G (p.Asn508Lys) c.276+16512A>C (n.276+16512A>C) c.*220+6032T>G (n.*220+6032T>G) c.648T>G (p.Asn216Lys) c.675T>G (p.Asn225Lys) c.1530T>G (p.Asn510Lys) c.1344T>G (p.Asn448Lys) c.1263T>G (p.Asn421Lys) c.969T>G (p.Asn323Lys) c.1350T>G (p.Asn450Lys) | dbSNP |
2 | g.48688192A>G | CA426125255 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1605T>C (p.Asn535=) c.948-53T>C (n.948-53T>C) c.3441+16512A>G (n.3441+16512A>G) c.*349T>C (n.*349T>C) c.1524T>C (p.Asn508=) c.276+16512A>G (n.276+16512A>G) c.*220+6032T>C (n.*220+6032T>C) c.648T>C (p.Asn216=) c.675T>C (p.Asn225=) c.1530T>C (p.Asn510=) c.1344T>C (p.Asn448=) c.1263T>C (p.Asn421=) c.969T>C (p.Asn323=) c.1350T>C (p.Asn450=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48688192A>T | CA346745907 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1605T>A (p.Asn535Lys) c.948-53T>A (n.948-53T>A) c.3441+16512A>T (n.3441+16512A>T) c.*349T>A (n.*349T>A) c.1524T>A (p.Asn508Lys) c.276+16512A>T (n.276+16512A>T) c.*220+6032T>A (n.*220+6032T>A) c.648T>A (p.Asn216Lys) c.675T>A (p.Asn225Lys) c.1530T>A (p.Asn510Lys) c.1344T>A (p.Asn448Lys) c.1263T>A (p.Asn421Lys) c.969T>A (p.Asn323Lys) c.1350T>A (p.Asn450Lys) | |
2 | g.48688193T>A | CA346745909 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1604A>T (p.Asn535Ile) c.948-54A>T (n.948-54A>T) c.3441+16513T>A (n.3441+16513T>A) c.*348A>T (n.*348A>T) c.1523A>T (p.Asn508Ile) c.276+16513T>A (n.276+16513T>A) c.*220+6031A>T (n.*220+6031A>T) c.647A>T (p.Asn216Ile) c.674A>T (p.Asn225Ile) c.1529A>T (p.Asn510Ile) c.1343A>T (p.Asn448Ile) c.1262A>T (p.Asn421Ile) c.968A>T (p.Asn323Ile) c.1349A>T (p.Asn450Ile) | |
2 | g.48688193T>C | CA346745916 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1604A>G (p.Asn535Ser) c.948-54A>G (n.948-54A>G) c.3441+16513T>C (n.3441+16513T>C) c.*348A>G (n.*348A>G) c.1523A>G (p.Asn508Ser) c.276+16513T>C (n.276+16513T>C) c.*220+6031A>G (n.*220+6031A>G) c.647A>G (p.Asn216Ser) c.674A>G (p.Asn225Ser) c.1529A>G (p.Asn510Ser) c.1343A>G (p.Asn448Ser) c.1262A>G (p.Asn421Ser) c.968A>G (p.Asn323Ser) c.1349A>G (p.Asn450Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688193T>G | CA346745918 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1604A>C (p.Asn535Thr) c.948-54A>C (n.948-54A>C) c.3441+16513T>G (n.3441+16513T>G) c.*348A>C (n.*348A>C) c.1523A>C (p.Asn508Thr) c.276+16513T>G (n.276+16513T>G) c.*220+6031A>C (n.*220+6031A>C) c.647A>C (p.Asn216Thr) c.674A>C (p.Asn225Thr) c.1529A>C (p.Asn510Thr) c.1343A>C (p.Asn448Thr) c.1262A>C (p.Asn421Thr) c.968A>C (p.Asn323Thr) c.1349A>C (p.Asn450Thr) | |
2 | g.48688193T= | CA1248601028 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1604A= (p.Asn535=) c.948-54A= (n.948-54A=) c.3441+16513T= (n.3441+16513T=) c.*348A= (n.*348A=) c.1523A= (p.Asn508=) c.276+16513T= (n.276+16513T=) c.*220+6031A= (n.*220+6031A=) c.647A= (p.Asn216=) c.674A= (p.Asn225=) c.1529A= (p.Asn510=) c.1343A= (p.Asn448=) c.1262A= (p.Asn421=) c.968A= (p.Asn323=) c.1349A= (p.Asn450=) | |
2 | g.48688194T>A | CA346745924 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1603A>T (p.Asn535Tyr) c.948-55A>T (n.948-55A>T) c.3441+16514T>A (n.3441+16514T>A) c.*347A>T (n.*347A>T) c.1522A>T (p.Asn508Tyr) c.276+16514T>A (n.276+16514T>A) c.*220+6030A>T (n.*220+6030A>T) c.646A>T (p.Asn216Tyr) c.673A>T (p.Asn225Tyr) c.1528A>T (p.Asn510Tyr) c.1342A>T (p.Asn448Tyr) c.1261A>T (p.Asn421Tyr) c.967A>T (p.Asn323Tyr) c.1348A>T (p.Asn450Tyr) | |
2 | g.48688194T>C | CA346745922 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1603A>G (p.Asn535Asp) c.948-55A>G (n.948-55A>G) c.3441+16514T>C (n.3441+16514T>C) c.*347A>G (n.*347A>G) c.1522A>G (p.Asn508Asp) c.276+16514T>C (n.276+16514T>C) c.*220+6030A>G (n.*220+6030A>G) c.646A>G (p.Asn216Asp) c.673A>G (p.Asn225Asp) c.1528A>G (p.Asn510Asp) c.1342A>G (p.Asn448Asp) c.1261A>G (p.Asn421Asp) c.967A>G (p.Asn323Asp) c.1348A>G (p.Asn450Asp) | |
2 | g.48688194T>G | CA346745920 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1603A>C (p.Asn535His) c.948-55A>C (n.948-55A>C) c.3441+16514T>G (n.3441+16514T>G) c.*347A>C (n.*347A>C) c.1522A>C (p.Asn508His) c.276+16514T>G (n.276+16514T>G) c.*220+6030A>C (n.*220+6030A>C) c.646A>C (p.Asn216His) c.673A>C (p.Asn225His) c.1528A>C (p.Asn510His) c.1342A>C (p.Asn448His) c.1261A>C (p.Asn421His) c.967A>C (p.Asn323His) c.1348A>C (p.Asn450His) | gnomAD v4 |
2 | g.48688195G>A | CA426125262 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1602C>T (p.Leu534=) c.948-56C>T (n.948-56C>T) c.3441+16515G>A (n.3441+16515G>A) c.*346C>T (n.*346C>T) c.1521C>T (p.Leu507=) c.276+16515G>A (n.276+16515G>A) c.*220+6029C>T (n.*220+6029C>T) c.645C>T (p.Leu215=) c.672C>T (p.Leu224=) c.1527C>T (p.Leu509=) c.1341C>T (p.Leu447=) c.1260C>T (p.Leu420=) c.966C>T (p.Leu322=) c.1347C>T (p.Leu449=) | |
2 | g.48688195G>C | CA426125267 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1602C>G (p.Leu534=) c.948-56C>G (n.948-56C>G) c.3441+16515G>C (n.3441+16515G>C) c.*346C>G (n.*346C>G) c.1521C>G (p.Leu507=) c.276+16515G>C (n.276+16515G>C) c.*220+6029C>G (n.*220+6029C>G) c.645C>G (p.Leu215=) c.672C>G (p.Leu224=) c.1527C>G (p.Leu509=) c.1341C>G (p.Leu447=) c.1260C>G (p.Leu420=) c.966C>G (p.Leu322=) c.1347C>G (p.Leu449=) | |
2 | g.48688195G>T | CA426125270 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1602C>A (p.Leu534=) c.948-56C>A (n.948-56C>A) c.3441+16515G>T (n.3441+16515G>T) c.*346C>A (n.*346C>A) c.1521C>A (p.Leu507=) c.276+16515G>T (n.276+16515G>T) c.*220+6029C>A (n.*220+6029C>A) c.645C>A (p.Leu215=) c.672C>A (p.Leu224=) c.1527C>A (p.Leu509=) c.1341C>A (p.Leu447=) c.1260C>A (p.Leu420=) c.966C>A (p.Leu322=) c.1347C>A (p.Leu449=) | |
2 | g.48688196A>C | CA346745926 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1601T>G (p.Leu534Arg) c.948-57T>G (n.948-57T>G) c.3441+16516A>C (n.3441+16516A>C) c.*345T>G (n.*345T>G) c.1520T>G (p.Leu507Arg) c.276+16516A>C (n.276+16516A>C) c.*220+6028T>G (n.*220+6028T>G) c.644T>G (p.Leu215Arg) c.671T>G (p.Leu224Arg) c.1526T>G (p.Leu509Arg) c.1340T>G (p.Leu447Arg) c.1259T>G (p.Leu420Arg) c.965T>G (p.Leu322Arg) c.1346T>G (p.Leu449Arg) | |
2 | g.48688196A>G | CA346745928 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1601T>C (p.Leu534Pro) c.948-57T>C (n.948-57T>C) c.3441+16516A>G (n.3441+16516A>G) c.*345T>C (n.*345T>C) c.1520T>C (p.Leu507Pro) c.276+16516A>G (n.276+16516A>G) c.*220+6028T>C (n.*220+6028T>C) c.644T>C (p.Leu215Pro) c.671T>C (p.Leu224Pro) c.1526T>C (p.Leu509Pro) c.1340T>C (p.Leu447Pro) c.1259T>C (p.Leu420Pro) c.965T>C (p.Leu322Pro) c.1346T>C (p.Leu449Pro) | |
2 | g.48688196A>T | CA346745933 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1601T>A (p.Leu534His) c.948-57T>A (n.948-57T>A) c.3441+16516A>T (n.3441+16516A>T) c.*345T>A (n.*345T>A) c.1520T>A (p.Leu507His) c.276+16516A>T (n.276+16516A>T) c.*220+6028T>A (n.*220+6028T>A) c.644T>A (p.Leu215His) c.671T>A (p.Leu224His) c.1526T>A (p.Leu509His) c.1340T>A (p.Leu447His) c.1259T>A (p.Leu420His) c.965T>A (p.Leu322His) c.1346T>A (p.Leu449His) | |
2 | g.48688197G>A | CA1653012 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1600C>T (p.Leu534Phe) c.948-58C>T (n.948-58C>T) c.3441+16517G>A (n.3441+16517G>A) c.*344C>T (n.*344C>T) c.1519C>T (p.Leu507Phe) c.276+16517G>A (n.276+16517G>A) c.*220+6027C>T (n.*220+6027C>T) c.643C>T (p.Leu215Phe) c.670C>T (p.Leu224Phe) c.1525C>T (p.Leu509Phe) c.1339C>T (p.Leu447Phe) c.1258C>T (p.Leu420Phe) c.964C>T (p.Leu322Phe) c.1345C>T (p.Leu449Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688197G>C | CA346745936 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1600C>G (p.Leu534Val) c.948-58C>G (n.948-58C>G) c.3441+16517G>C (n.3441+16517G>C) c.*344C>G (n.*344C>G) c.1519C>G (p.Leu507Val) c.276+16517G>C (n.276+16517G>C) c.*220+6027C>G (n.*220+6027C>G) c.643C>G (p.Leu215Val) c.670C>G (p.Leu224Val) c.1525C>G (p.Leu509Val) c.1339C>G (p.Leu447Val) c.1258C>G (p.Leu420Val) c.964C>G (p.Leu322Val) c.1345C>G (p.Leu449Val) | |
2 | g.48688197G= | CA1248601029 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1600C= (p.Leu534=) c.948-58C= (n.948-58C=) c.3441+16517G= (n.3441+16517G=) c.*344C= (n.*344C=) c.1519C= (p.Leu507=) c.276+16517G= (n.276+16517G=) c.*220+6027C= (n.*220+6027C=) c.643C= (p.Leu215=) c.670C= (p.Leu224=) c.1525C= (p.Leu509=) c.1339C= (p.Leu447=) c.1258C= (p.Leu420=) c.964C= (p.Leu322=) c.1345C= (p.Leu449=) | |
2 | g.48688197G>T | CA346745937 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1600C>A (p.Leu534Ile) c.948-58C>A (n.948-58C>A) c.3441+16517G>T (n.3441+16517G>T) c.*344C>A (n.*344C>A) c.1519C>A (p.Leu507Ile) c.276+16517G>T (n.276+16517G>T) c.*220+6027C>A (n.*220+6027C>A) c.643C>A (p.Leu215Ile) c.670C>A (p.Leu224Ile) c.1525C>A (p.Leu509Ile) c.1339C>A (p.Leu447Ile) c.1258C>A (p.Leu420Ile) c.964C>A (p.Leu322Ile) c.1345C>A (p.Leu449Ile) | |
2 | g.48688198A>C | CA346745938 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1599T>G (p.Ile533Met) c.948-59T>G (n.948-59T>G) c.3441+16518A>C (n.3441+16518A>C) c.*343T>G (n.*343T>G) c.1518T>G (p.Ile506Met) c.276+16518A>C (n.276+16518A>C) c.*220+6026T>G (n.*220+6026T>G) c.642T>G (p.Ile214Met) c.669T>G (p.Ile223Met) c.1524T>G (p.Ile508Met) c.1338T>G (p.Ile446Met) c.1257T>G (p.Ile419Met) c.963T>G (p.Ile321Met) c.1344T>G (p.Ile448Met) | |
2 | g.48688198A>G | CA426125277 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1599T>C (p.Ile533=) c.948-59T>C (n.948-59T>C) c.3441+16518A>G (n.3441+16518A>G) c.*343T>C (n.*343T>C) c.1518T>C (p.Ile506=) c.276+16518A>G (n.276+16518A>G) c.*220+6026T>C (n.*220+6026T>C) c.642T>C (p.Ile214=) c.669T>C (p.Ile223=) c.1524T>C (p.Ile508=) c.1338T>C (p.Ile446=) c.1257T>C (p.Ile419=) c.963T>C (p.Ile321=) c.1344T>C (p.Ile448=) | |
2 | g.48688198A>T | CA426125279 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1599T>A (p.Ile533=) c.948-59T>A (n.948-59T>A) c.3441+16518A>T (n.3441+16518A>T) c.*343T>A (n.*343T>A) c.1518T>A (p.Ile506=) c.276+16518A>T (n.276+16518A>T) c.*220+6026T>A (n.*220+6026T>A) c.642T>A (p.Ile214=) c.669T>A (p.Ile223=) c.1524T>A (p.Ile508=) c.1338T>A (p.Ile446=) c.1257T>A (p.Ile419=) c.963T>A (p.Ile321=) c.1344T>A (p.Ile448=) | |
2 | g.48688199A>C | CA346745940 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1598T>G (p.Ile533Ser) c.948-60T>G (n.948-60T>G) c.3441+16519A>C (n.3441+16519A>C) c.*342T>G (n.*342T>G) c.1517T>G (p.Ile506Ser) c.276+16519A>C (n.276+16519A>C) c.*220+6025T>G (n.*220+6025T>G) c.641T>G (p.Ile214Ser) c.668T>G (p.Ile223Ser) c.1523T>G (p.Ile508Ser) c.1337T>G (p.Ile446Ser) c.1256T>G (p.Ile419Ser) c.962T>G (p.Ile321Ser) c.1343T>G (p.Ile448Ser) | |
2 | g.48688199A>G | CA346745942 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1598T>C (p.Ile533Thr) c.948-60T>C (n.948-60T>C) c.3441+16519A>G (n.3441+16519A>G) c.*342T>C (n.*342T>C) c.1517T>C (p.Ile506Thr) c.276+16519A>G (n.276+16519A>G) c.*220+6025T>C (n.*220+6025T>C) c.641T>C (p.Ile214Thr) c.668T>C (p.Ile223Thr) c.1523T>C (p.Ile508Thr) c.1337T>C (p.Ile446Thr) c.1256T>C (p.Ile419Thr) c.962T>C (p.Ile321Thr) c.1343T>C (p.Ile448Thr) | |
2 | g.48688199A>T | CA346745945 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1598T>A (p.Ile533Asn) c.948-60T>A (n.948-60T>A) c.3441+16519A>T (n.3441+16519A>T) c.*342T>A (n.*342T>A) c.1517T>A (p.Ile506Asn) c.276+16519A>T (n.276+16519A>T) c.*220+6025T>A (n.*220+6025T>A) c.641T>A (p.Ile214Asn) c.668T>A (p.Ile223Asn) c.1523T>A (p.Ile508Asn) c.1337T>A (p.Ile446Asn) c.1256T>A (p.Ile419Asn) c.962T>A (p.Ile321Asn) c.1343T>A (p.Ile448Asn) | |
2 | g.48688200T>A | CA346745950 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1597A>T (p.Ile533Phe) c.948-61A>T (n.948-61A>T) c.3441+16520T>A (n.3441+16520T>A) c.*341A>T (n.*341A>T) c.1516A>T (p.Ile506Phe) c.276+16520T>A (n.276+16520T>A) c.*220+6024A>T (n.*220+6024A>T) c.640A>T (p.Ile214Phe) c.667A>T (p.Ile223Phe) c.1522A>T (p.Ile508Phe) c.1336A>T (p.Ile446Phe) c.1255A>T (p.Ile419Phe) c.961A>T (p.Ile321Phe) c.1342A>T (p.Ile448Phe) | |
2 | g.48688200T>C | CA346745965 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1597A>G (p.Ile533Val) c.948-61A>G (n.948-61A>G) c.3441+16520T>C (n.3441+16520T>C) c.*341A>G (n.*341A>G) c.1516A>G (p.Ile506Val) c.276+16520T>C (n.276+16520T>C) c.*220+6024A>G (n.*220+6024A>G) c.640A>G (p.Ile214Val) c.667A>G (p.Ile223Val) c.1522A>G (p.Ile508Val) c.1336A>G (p.Ile446Val) c.1255A>G (p.Ile419Val) c.961A>G (p.Ile321Val) c.1342A>G (p.Ile448Val) | |
2 | g.48688200T>G | CA346745975 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1597A>C (p.Ile533Leu) c.948-61A>C (n.948-61A>C) c.3441+16520T>G (n.3441+16520T>G) c.*341A>C (n.*341A>C) c.1516A>C (p.Ile506Leu) c.276+16520T>G (n.276+16520T>G) c.*220+6024A>C (n.*220+6024A>C) c.640A>C (p.Ile214Leu) c.667A>C (p.Ile223Leu) c.1522A>C (p.Ile508Leu) c.1336A>C (p.Ile446Leu) c.1255A>C (p.Ile419Leu) c.961A>C (p.Ile321Leu) c.1342A>C (p.Ile448Leu) | |
2 | g.48688201C>A | CA426125288 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1596G>T (p.Leu532=) c.948-62G>T (n.948-62G>T) c.3441+16521C>A (n.3441+16521C>A) c.*340G>T (n.*340G>T) c.1515G>T (p.Leu505=) c.276+16521C>A (n.276+16521C>A) c.*220+6023G>T (n.*220+6023G>T) c.639G>T (p.Leu213=) c.666G>T (p.Leu222=) c.1521G>T (p.Leu507=) c.1335G>T (p.Leu445=) c.1254G>T (p.Leu418=) c.960G>T (p.Leu320=) c.1341G>T (p.Leu447=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48688201C= | CA1248601030 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1596G= (p.Leu532=) c.948-62G= (n.948-62G=) c.3441+16521C= (n.3441+16521C=) c.*340G= (n.*340G=) c.1515G= (p.Leu505=) c.276+16521C= (n.276+16521C=) c.*220+6023G= (n.*220+6023G=) c.639G= (p.Leu213=) c.666G= (p.Leu222=) c.1521G= (p.Leu507=) c.1335G= (p.Leu445=) c.1254G= (p.Leu418=) c.960G= (p.Leu320=) c.1341G= (p.Leu447=) | |
2 | g.48688201C>G | CA426125290 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1596G>C (p.Leu532=) c.948-62G>C (n.948-62G>C) c.3441+16521C>G (n.3441+16521C>G) c.*340G>C (n.*340G>C) c.1515G>C (p.Leu505=) c.276+16521C>G (n.276+16521C>G) c.*220+6023G>C (n.*220+6023G>C) c.639G>C (p.Leu213=) c.666G>C (p.Leu222=) c.1521G>C (p.Leu507=) c.1335G>C (p.Leu445=) c.1254G>C (p.Leu418=) c.960G>C (p.Leu320=) c.1341G>C (p.Leu447=) | |
2 | g.48688201C>T | CA426125292 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1596G>A (p.Leu532=) c.948-62G>A (n.948-62G>A) c.3441+16521C>T (n.3441+16521C>T) c.*340G>A (n.*340G>A) c.1515G>A (p.Leu505=) c.276+16521C>T (n.276+16521C>T) c.*220+6023G>A (n.*220+6023G>A) c.639G>A (p.Leu213=) c.666G>A (p.Leu222=) c.1521G>A (p.Leu507=) c.1335G>A (p.Leu445=) c.1254G>A (p.Leu418=) c.960G>A (p.Leu320=) c.1341G>A (p.Leu447=) | |
2 | g.48688202A>C | CA346745987 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1595T>G (p.Leu532Arg) c.948-63T>G (n.948-63T>G) c.3441+16522A>C (n.3441+16522A>C) c.*339T>G (n.*339T>G) c.1514T>G (p.Leu505Arg) c.276+16522A>C (n.276+16522A>C) c.*220+6022T>G (n.*220+6022T>G) c.638T>G (p.Leu213Arg) c.665T>G (p.Leu222Arg) c.1520T>G (p.Leu507Arg) c.1334T>G (p.Leu445Arg) c.1253T>G (p.Leu418Arg) c.959T>G (p.Leu320Arg) c.1340T>G (p.Leu447Arg) | |
2 | g.48688202A>G | CA346745988 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1595T>C (p.Leu532Pro) c.948-63T>C (n.948-63T>C) c.3441+16522A>G (n.3441+16522A>G) c.*339T>C (n.*339T>C) c.1514T>C (p.Leu505Pro) c.276+16522A>G (n.276+16522A>G) c.*220+6022T>C (n.*220+6022T>C) c.638T>C (p.Leu213Pro) c.665T>C (p.Leu222Pro) c.1520T>C (p.Leu507Pro) c.1334T>C (p.Leu445Pro) c.1253T>C (p.Leu418Pro) c.959T>C (p.Leu320Pro) c.1340T>C (p.Leu447Pro) | gnomAD v4 |
2 | g.48688202A>T | CA346745984 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1595T>A (p.Leu532Gln) c.948-63T>A (n.948-63T>A) c.3441+16522A>T (n.3441+16522A>T) c.*339T>A (n.*339T>A) c.1514T>A (p.Leu505Gln) c.276+16522A>T (n.276+16522A>T) c.*220+6022T>A (n.*220+6022T>A) c.638T>A (p.Leu213Gln) c.665T>A (p.Leu222Gln) c.1520T>A (p.Leu507Gln) c.1334T>A (p.Leu445Gln) c.1253T>A (p.Leu418Gln) c.959T>A (p.Leu320Gln) c.1340T>A (p.Leu447Gln) | |
2 | g.48688203G>A | CA426125299 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1594C>T (p.Leu532=) c.948-64C>T (n.948-64C>T) c.3441+16523G>A (n.3441+16523G>A) c.*338C>T (n.*338C>T) c.1513C>T (p.Leu505=) c.276+16523G>A (n.276+16523G>A) c.*220+6021C>T (n.*220+6021C>T) c.637C>T (p.Leu213=) c.664C>T (p.Leu222=) c.1519C>T (p.Leu507=) c.1333C>T (p.Leu445=) c.1252C>T (p.Leu418=) c.958C>T (p.Leu320=) c.1339C>T (p.Leu447=) | gnomAD v4 |
2 | g.48688203G>C | CA346745990 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1594C>G (p.Leu532Val) c.948-64C>G (n.948-64C>G) c.3441+16523G>C (n.3441+16523G>C) c.*338C>G (n.*338C>G) c.1513C>G (p.Leu505Val) c.276+16523G>C (n.276+16523G>C) c.*220+6021C>G (n.*220+6021C>G) c.637C>G (p.Leu213Val) c.664C>G (p.Leu222Val) c.1519C>G (p.Leu507Val) c.1333C>G (p.Leu445Val) c.1252C>G (p.Leu418Val) c.958C>G (p.Leu320Val) c.1339C>G (p.Leu447Val) | |
2 | g.48688203G>T | CA346745992 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1594C>A (p.Leu532Met) c.948-64C>A (n.948-64C>A) c.3441+16523G>T (n.3441+16523G>T) c.*338C>A (n.*338C>A) c.1513C>A (p.Leu505Met) c.276+16523G>T (n.276+16523G>T) c.*220+6021C>A (n.*220+6021C>A) c.637C>A (p.Leu213Met) c.664C>A (p.Leu222Met) c.1519C>A (p.Leu507Met) c.1333C>A (p.Leu445Met) c.1252C>A (p.Leu418Met) c.958C>A (p.Leu320Met) c.1339C>A (p.Leu447Met) | |
2 | g.48688204G>A | CA426125304 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1593C>T (p.Ile531=) c.948-65C>T (n.948-65C>T) c.3441+16524G>A (n.3441+16524G>A) c.*337C>T (n.*337C>T) c.1512C>T (p.Ile504=) c.276+16524G>A (n.276+16524G>A) c.*220+6020C>T (n.*220+6020C>T) c.636C>T (p.Ile212=) c.663C>T (p.Ile221=) c.1518C>T (p.Ile506=) c.1332C>T (p.Ile444=) c.1251C>T (p.Ile417=) c.957C>T (p.Ile319=) c.1338C>T (p.Ile446=) | gnomAD v4 |
2 | g.48688204G>C | CA346746000 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1593C>G (p.Ile531Met) c.948-65C>G (n.948-65C>G) c.3441+16524G>C (n.3441+16524G>C) c.*337C>G (n.*337C>G) c.1512C>G (p.Ile504Met) c.276+16524G>C (n.276+16524G>C) c.*220+6020C>G (n.*220+6020C>G) c.636C>G (p.Ile212Met) c.663C>G (p.Ile221Met) c.1518C>G (p.Ile506Met) c.1332C>G (p.Ile444Met) c.1251C>G (p.Ile417Met) c.957C>G (p.Ile319Met) c.1338C>G (p.Ile446Met) | |
2 | g.48688204G>T | CA426125303 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1593C>A (p.Ile531=) c.948-65C>A (n.948-65C>A) c.3441+16524G>T (n.3441+16524G>T) c.*337C>A (n.*337C>A) c.1512C>A (p.Ile504=) c.276+16524G>T (n.276+16524G>T) c.*220+6020C>A (n.*220+6020C>A) c.636C>A (p.Ile212=) c.663C>A (p.Ile221=) c.1518C>A (p.Ile506=) c.1332C>A (p.Ile444=) c.1251C>A (p.Ile417=) c.957C>A (p.Ile319=) c.1338C>A (p.Ile446=) | |
2 | g.48688205A>C | CA346746003 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1592T>G (p.Ile531Ser) c.948-66T>G (n.948-66T>G) c.3441+16525A>C (n.3441+16525A>C) c.*336T>G (n.*336T>G) c.1511T>G (p.Ile504Ser) c.276+16525A>C (n.276+16525A>C) c.*220+6019T>G (n.*220+6019T>G) c.635T>G (p.Ile212Ser) c.662T>G (p.Ile221Ser) c.1517T>G (p.Ile506Ser) c.1331T>G (p.Ile444Ser) c.1250T>G (p.Ile417Ser) c.956T>G (p.Ile319Ser) c.1337T>G (p.Ile446Ser) | |
2 | g.48688205A>G | CA346746004 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1592T>C (p.Ile531Thr) c.948-66T>C (n.948-66T>C) c.3441+16525A>G (n.3441+16525A>G) c.*336T>C (n.*336T>C) c.1511T>C (p.Ile504Thr) c.276+16525A>G (n.276+16525A>G) c.*220+6019T>C (n.*220+6019T>C) c.635T>C (p.Ile212Thr) c.662T>C (p.Ile221Thr) c.1517T>C (p.Ile506Thr) c.1331T>C (p.Ile444Thr) c.1250T>C (p.Ile417Thr) c.956T>C (p.Ile319Thr) c.1337T>C (p.Ile446Thr) | |
2 | g.48688205A>T | CA346746005 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1592T>A (p.Ile531Asn) c.948-66T>A (n.948-66T>A) c.3441+16525A>T (n.3441+16525A>T) c.*336T>A (n.*336T>A) c.1511T>A (p.Ile504Asn) c.276+16525A>T (n.276+16525A>T) c.*220+6019T>A (n.*220+6019T>A) c.635T>A (p.Ile212Asn) c.662T>A (p.Ile221Asn) c.1517T>A (p.Ile506Asn) c.1331T>A (p.Ile444Asn) c.1250T>A (p.Ile417Asn) c.956T>A (p.Ile319Asn) c.1337T>A (p.Ile446Asn) | |
2 | g.48688206T>A | CA346746006 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1591A>T (p.Ile531Phe) c.948-67A>T (n.948-67A>T) c.3441+16526T>A (n.3441+16526T>A) c.*335A>T (n.*335A>T) c.1510A>T (p.Ile504Phe) c.276+16526T>A (n.276+16526T>A) c.*220+6018A>T (n.*220+6018A>T) c.634A>T (p.Ile212Phe) c.661A>T (p.Ile221Phe) c.1516A>T (p.Ile506Phe) c.1330A>T (p.Ile444Phe) c.1249A>T (p.Ile417Phe) c.955A>T (p.Ile319Phe) c.1336A>T (p.Ile446Phe) | |
2 | g.48688206T>C | CA346746008 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1591A>G (p.Ile531Val) c.948-67A>G (n.948-67A>G) c.3441+16526T>C (n.3441+16526T>C) c.*335A>G (n.*335A>G) c.1510A>G (p.Ile504Val) c.276+16526T>C (n.276+16526T>C) c.*220+6018A>G (n.*220+6018A>G) c.634A>G (p.Ile212Val) c.661A>G (p.Ile221Val) c.1516A>G (p.Ile506Val) c.1330A>G (p.Ile444Val) c.1249A>G (p.Ile417Val) c.955A>G (p.Ile319Val) c.1336A>G (p.Ile446Val) | dbSNP |
2 | g.48688206T>G | CA346746009 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1591A>C (p.Ile531Leu) c.948-67A>C (n.948-67A>C) c.3441+16526T>G (n.3441+16526T>G) c.*335A>C (n.*335A>C) c.1510A>C (p.Ile504Leu) c.276+16526T>G (n.276+16526T>G) c.*220+6018A>C (n.*220+6018A>C) c.634A>C (p.Ile212Leu) c.661A>C (p.Ile221Leu) c.1516A>C (p.Ile506Leu) c.1330A>C (p.Ile444Leu) c.1249A>C (p.Ile417Leu) c.955A>C (p.Ile319Leu) c.1336A>C (p.Ile446Leu) | |
2 | g.48688206T= | CA1248601031 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1591A= (p.Ile531=) c.948-67A= (n.948-67A=) c.3441+16526T= (n.3441+16526T=) c.*335A= (n.*335A=) c.1510A= (p.Ile504=) c.276+16526T= (n.276+16526T=) c.*220+6018A= (n.*220+6018A=) c.634A= (p.Ile212=) c.661A= (p.Ile221=) c.1516A= (p.Ile506=) c.1330A= (p.Ile444=) c.1249A= (p.Ile417=) c.955A= (p.Ile319=) c.1336A= (p.Ile446=) | |
2 | g.48688207G>A | CA426125307 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1590C>T (p.Thr530=) c.948-68C>T (n.948-68C>T) c.3441+16527G>A (n.3441+16527G>A) c.*334C>T (n.*334C>T) c.1509C>T (p.Thr503=) c.276+16527G>A (n.276+16527G>A) c.*220+6017C>T (n.*220+6017C>T) c.633C>T (p.Thr211=) c.660C>T (p.Thr220=) c.1515C>T (p.Thr505=) c.1329C>T (p.Thr443=) c.1248C>T (p.Thr416=) c.954C>T (p.Thr318=) c.1335C>T (p.Thr445=) | |
2 | g.48688207G>C | CA426125309 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1590C>G (p.Thr530=) c.948-68C>G (n.948-68C>G) c.3441+16527G>C (n.3441+16527G>C) c.*334C>G (n.*334C>G) c.1509C>G (p.Thr503=) c.276+16527G>C (n.276+16527G>C) c.*220+6017C>G (n.*220+6017C>G) c.633C>G (p.Thr211=) c.660C>G (p.Thr220=) c.1515C>G (p.Thr505=) c.1329C>G (p.Thr443=) c.1248C>G (p.Thr416=) c.954C>G (p.Thr318=) c.1335C>G (p.Thr445=) | |
2 | g.48688207G= | CA1248601032 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1590C= (p.Thr530=) c.948-68C= (n.948-68C=) c.3441+16527G= (n.3441+16527G=) c.*334C= (n.*334C=) c.1509C= (p.Thr503=) c.276+16527G= (n.276+16527G=) c.*220+6017C= (n.*220+6017C=) c.633C= (p.Thr211=) c.660C= (p.Thr220=) c.1515C= (p.Thr505=) c.1329C= (p.Thr443=) c.1248C= (p.Thr416=) c.954C= (p.Thr318=) c.1335C= (p.Thr445=) | |
2 | g.48688207G>T | CA426125310 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1590C>A (p.Thr530=) c.948-68C>A (n.948-68C>A) c.3441+16527G>T (n.3441+16527G>T) c.*334C>A (n.*334C>A) c.1509C>A (p.Thr503=) c.276+16527G>T (n.276+16527G>T) c.*220+6017C>A (n.*220+6017C>A) c.633C>A (p.Thr211=) c.660C>A (p.Thr220=) c.1515C>A (p.Thr505=) c.1329C>A (p.Thr443=) c.1248C>A (p.Thr416=) c.954C>A (p.Thr318=) c.1335C>A (p.Thr445=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.48688208G>A | CA1653013 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1589C>T (p.Thr530Ile) c.948-69C>T (n.948-69C>T) c.3441+16528G>A (n.3441+16528G>A) c.*333C>T (n.*333C>T) c.1508C>T (p.Thr503Ile) c.276+16528G>A (n.276+16528G>A) c.*220+6016C>T (n.*220+6016C>T) c.632C>T (p.Thr211Ile) c.659C>T (p.Thr220Ile) c.1514C>T (p.Thr505Ile) c.1328C>T (p.Thr443Ile) c.1247C>T (p.Thr416Ile) c.953C>T (p.Thr318Ile) c.1334C>T (p.Thr445Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688208G>C | CA346746019 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1589C>G (p.Thr530Ser) c.948-69C>G (n.948-69C>G) c.3441+16528G>C (n.3441+16528G>C) c.*333C>G (n.*333C>G) c.1508C>G (p.Thr503Ser) c.276+16528G>C (n.276+16528G>C) c.*220+6016C>G (n.*220+6016C>G) c.632C>G (p.Thr211Ser) c.659C>G (p.Thr220Ser) c.1514C>G (p.Thr505Ser) c.1328C>G (p.Thr443Ser) c.1247C>G (p.Thr416Ser) c.953C>G (p.Thr318Ser) c.1334C>G (p.Thr445Ser) | |
2 | g.48688208G= | CA1248601033 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1589C= (p.Thr530=) c.948-69C= (n.948-69C=) c.3441+16528G= (n.3441+16528G=) c.*333C= (n.*333C=) c.1508C= (p.Thr503=) c.276+16528G= (n.276+16528G=) c.*220+6016C= (n.*220+6016C=) c.632C= (p.Thr211=) c.659C= (p.Thr220=) c.1514C= (p.Thr505=) c.1328C= (p.Thr443=) c.1247C= (p.Thr416=) c.953C= (p.Thr318=) c.1334C= (p.Thr445=) | |
2 | g.48688208G>T | CA346746021 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1589C>A (p.Thr530Asn) c.948-69C>A (n.948-69C>A) c.3441+16528G>T (n.3441+16528G>T) c.*333C>A (n.*333C>A) c.1508C>A (p.Thr503Asn) c.276+16528G>T (n.276+16528G>T) c.*220+6016C>A (n.*220+6016C>A) c.632C>A (p.Thr211Asn) c.659C>A (p.Thr220Asn) c.1514C>A (p.Thr505Asn) c.1328C>A (p.Thr443Asn) c.1247C>A (p.Thr416Asn) c.953C>A (p.Thr318Asn) c.1334C>A (p.Thr445Asn) | |
2 | g.48688209T>A | CA346746034 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1588A>T (p.Thr530Ser) c.948-70A>T (n.948-70A>T) c.3441+16529T>A (n.3441+16529T>A) c.*332A>T (n.*332A>T) c.1507A>T (p.Thr503Ser) c.276+16529T>A (n.276+16529T>A) c.*220+6015A>T (n.*220+6015A>T) c.631A>T (p.Thr211Ser) c.658A>T (p.Thr220Ser) c.1513A>T (p.Thr505Ser) c.1327A>T (p.Thr443Ser) c.1246A>T (p.Thr416Ser) c.952A>T (p.Thr318Ser) c.1333A>T (p.Thr445Ser) | |
2 | g.48688209T>C | CA346746027 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1588A>G (p.Thr530Ala) c.948-70A>G (n.948-70A>G) c.3441+16529T>C (n.3441+16529T>C) c.*332A>G (n.*332A>G) c.1507A>G (p.Thr503Ala) c.276+16529T>C (n.276+16529T>C) c.*220+6015A>G (n.*220+6015A>G) c.631A>G (p.Thr211Ala) c.658A>G (p.Thr220Ala) c.1513A>G (p.Thr505Ala) c.1327A>G (p.Thr443Ala) c.1246A>G (p.Thr416Ala) c.952A>G (p.Thr318Ala) c.1333A>G (p.Thr445Ala) | |
2 | g.48688209T>G | CA46752898 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1588A>C (p.Thr530Pro) c.948-70A>C (n.948-70A>C) c.3441+16529T>G (n.3441+16529T>G) c.*332A>C (n.*332A>C) c.1507A>C (p.Thr503Pro) c.276+16529T>G (n.276+16529T>G) c.*220+6015A>C (n.*220+6015A>C) c.631A>C (p.Thr211Pro) c.658A>C (p.Thr220Pro) c.1513A>C (p.Thr505Pro) c.1327A>C (p.Thr443Pro) c.1246A>C (p.Thr416Pro) c.952A>C (p.Thr318Pro) c.1333A>C (p.Thr445Pro) | dbSNP COSMIC |
2 | g.48688209T= | CA1248601034 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1588A= (p.Thr530=) c.948-70A= (n.948-70A=) c.3441+16529T= (n.3441+16529T=) c.*332A= (n.*332A=) c.1507A= (p.Thr503=) c.276+16529T= (n.276+16529T=) c.*220+6015A= (n.*220+6015A=) c.631A= (p.Thr211=) c.658A= (p.Thr220=) c.1513A= (p.Thr505=) c.1327A= (p.Thr443=) c.1246A= (p.Thr416=) c.952A= (p.Thr318=) c.1333A= (p.Thr445=) | |
2 | g.48688210T>A | CA346746035 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1587A>T (p.Leu529Phe) c.948-71A>T (n.948-71A>T) c.3441+16530T>A (n.3441+16530T>A) c.*331A>T (n.*331A>T) c.1506A>T (p.Leu502Phe) c.276+16530T>A (n.276+16530T>A) c.*220+6014A>T (n.*220+6014A>T) c.630A>T (p.Leu210Phe) c.657A>T (p.Leu219Phe) c.1512A>T (p.Leu504Phe) c.1326A>T (p.Leu442Phe) c.1245A>T (p.Leu415Phe) c.951A>T (p.Leu317Phe) c.1332A>T (p.Leu444Phe) | |
2 | g.48688210T>C | CA426125318 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1587A>G (p.Leu529=) c.948-71A>G (n.948-71A>G) c.3441+16530T>C (n.3441+16530T>C) c.*331A>G (n.*331A>G) c.1506A>G (p.Leu502=) c.276+16530T>C (n.276+16530T>C) c.*220+6014A>G (n.*220+6014A>G) c.630A>G (p.Leu210=) c.657A>G (p.Leu219=) c.1512A>G (p.Leu504=) c.1326A>G (p.Leu442=) c.1245A>G (p.Leu415=) c.951A>G (p.Leu317=) c.1332A>G (p.Leu444=) | COSMIC |
2 | g.48688210T>G | CA346746041 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1587A>C (p.Leu529Phe) c.948-71A>C (n.948-71A>C) c.3441+16530T>G (n.3441+16530T>G) c.*331A>C (n.*331A>C) c.1506A>C (p.Leu502Phe) c.276+16530T>G (n.276+16530T>G) c.*220+6014A>C (n.*220+6014A>C) c.630A>C (p.Leu210Phe) c.657A>C (p.Leu219Phe) c.1512A>C (p.Leu504Phe) c.1326A>C (p.Leu442Phe) c.1245A>C (p.Leu415Phe) c.951A>C (p.Leu317Phe) c.1332A>C (p.Leu444Phe) | |
2 | g.48688211A>C | CA346746044 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1586T>G (p.Leu529Ter) c.948-72T>G (n.948-72T>G) c.3441+16531A>C (n.3441+16531A>C) c.*330T>G (n.*330T>G) c.1505T>G (p.Leu502Ter) c.276+16531A>C (n.276+16531A>C) c.*220+6013T>G (n.*220+6013T>G) c.629T>G (p.Leu210Ter) c.656T>G (p.Leu219Ter) c.1511T>G (p.Leu504Ter) c.1325T>G (p.Leu442Ter) c.1244T>G (p.Leu415Ter) c.950T>G (p.Leu317Ter) c.1331T>G (p.Leu444Ter) | |
2 | g.48688211A>G | CA346746048 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1586T>C (p.Leu529Ser) c.948-72T>C (n.948-72T>C) c.3441+16531A>G (n.3441+16531A>G) c.*330T>C (n.*330T>C) c.1505T>C (p.Leu502Ser) c.276+16531A>G (n.276+16531A>G) c.*220+6013T>C (n.*220+6013T>C) c.629T>C (p.Leu210Ser) c.656T>C (p.Leu219Ser) c.1511T>C (p.Leu504Ser) c.1325T>C (p.Leu442Ser) c.1244T>C (p.Leu415Ser) c.950T>C (p.Leu317Ser) c.1331T>C (p.Leu444Ser) | |
2 | g.48688211A>T | CA346746051 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1586T>A (p.Leu529Ter) c.948-72T>A (n.948-72T>A) c.3441+16531A>T (n.3441+16531A>T) c.*330T>A (n.*330T>A) c.1505T>A (p.Leu502Ter) c.276+16531A>T (n.276+16531A>T) c.*220+6013T>A (n.*220+6013T>A) c.629T>A (p.Leu210Ter) c.656T>A (p.Leu219Ter) c.1511T>A (p.Leu504Ter) c.1325T>A (p.Leu442Ter) c.1244T>A (p.Leu415Ter) c.950T>A (p.Leu317Ter) c.1331T>A (p.Leu444Ter) | |
2 | g.48688212A>C | CA346746053 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1585T>G (p.Leu529Val) c.948-73T>G (n.948-73T>G) c.3441+16532A>C (n.3441+16532A>C) c.*329T>G (n.*329T>G) c.1504T>G (p.Leu502Val) c.276+16532A>C (n.276+16532A>C) c.*220+6012T>G (n.*220+6012T>G) c.628T>G (p.Leu210Val) c.655T>G (p.Leu219Val) c.1510T>G (p.Leu504Val) c.1324T>G (p.Leu442Val) c.1243T>G (p.Leu415Val) c.949T>G (p.Leu317Val) c.1330T>G (p.Leu444Val) | |
2 | g.48688212A>G | CA426125324 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1585T>C (p.Leu529=) c.948-73T>C (n.948-73T>C) c.3441+16532A>G (n.3441+16532A>G) c.*329T>C (n.*329T>C) c.1504T>C (p.Leu502=) c.276+16532A>G (n.276+16532A>G) c.*220+6012T>C (n.*220+6012T>C) c.628T>C (p.Leu210=) c.655T>C (p.Leu219=) c.1510T>C (p.Leu504=) c.1324T>C (p.Leu442=) c.1243T>C (p.Leu415=) c.949T>C (p.Leu317=) c.1330T>C (p.Leu444=) | |
2 | g.48688212A>T | CA346746060 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1585T>A (p.Leu529Ile) c.948-73T>A (n.948-73T>A) c.3441+16532A>T (n.3441+16532A>T) c.*329T>A (n.*329T>A) c.1504T>A (p.Leu502Ile) c.276+16532A>T (n.276+16532A>T) c.*220+6012T>A (n.*220+6012T>A) c.628T>A (p.Leu210Ile) c.655T>A (p.Leu219Ile) c.1510T>A (p.Leu504Ile) c.1324T>A (p.Leu442Ile) c.1243T>A (p.Leu415Ile) c.949T>A (p.Leu317Ile) c.1330T>A (p.Leu444Ile) | |
2 | g.48688212_48688213insCA | CA2576963412 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1585_1586insGT (p.Leu529CysfsTer2) c.948-73_948-72insGT (n.948-73_948-72insGT) c.3441+16532_3441+16533insCA (n.3441+16532_3441+16533insCA) c.*329_*330insGT (n.*329_*330insGT) c.1504_1505insGT (p.Leu502CysfsTer2) c.276+16532_276+16533insCA (n.276+16532_276+16533insCA) c.*220+6012_*220+6013insGT (n.*220+6012_*220+6013insGT) c.628_629insGT (p.Leu210CysfsTer2) c.655_656insGT (p.Leu219CysfsTer2) c.1510_1511insGT (p.Leu504CysfsTer2) c.1324_1325insGT (p.Leu442CysfsTer2) c.1243_1244insGT (p.Leu415CysfsTer2) c.949_950insGT (p.Leu317CysfsTer2) c.1330_1331insGT (p.Leu444CysfsTer2) | |
2 | g.48688215_48688218del | CA2586969306 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1582_1585del (p.Ile528Ter) c.948-76_948-73del (n.948-76_948-73del) c.3441+16535_3441+16538del (n.3441+16535_3441+16538del) c.*326_*329del (n.*326_*329del) c.1501_1504del (p.Ile501Ter) c.276+16535_276+16538del (n.276+16535_276+16538del) c.*220+6009_*220+6012del (n.*220+6009_*220+6012del) c.625_628del (p.Ile209Ter) c.652_655del (p.Ile218Ter) c.1507_1510del (p.Ile503Ter) c.1321_1324del (p.Ile441Ter) c.1240_1243del (p.Ile414Ter) c.946_949del (p.Ile316Ter) c.1327_1330del (p.Ile443Ter) | |
2 | g.48688213T>A | CA426125328 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1584A>T (p.Ile528=) c.948-74A>T (n.948-74A>T) c.3441+16533T>A (n.3441+16533T>A) c.*328A>T (n.*328A>T) c.1503A>T (p.Ile501=) c.276+16533T>A (n.276+16533T>A) c.*220+6011A>T (n.*220+6011A>T) c.627A>T (p.Ile209=) c.654A>T (p.Ile218=) c.1509A>T (p.Ile503=) c.1323A>T (p.Ile441=) c.1242A>T (p.Ile414=) c.948A>T (p.Ile316=) c.1329A>T (p.Ile443=) | |
2 | g.48688213T>C | CA346746062 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1584A>G (p.Ile528Met) c.948-74A>G (n.948-74A>G) c.3441+16533T>C (n.3441+16533T>C) c.*328A>G (n.*328A>G) c.1503A>G (p.Ile501Met) c.276+16533T>C (n.276+16533T>C) c.*220+6011A>G (n.*220+6011A>G) c.627A>G (p.Ile209Met) c.654A>G (p.Ile218Met) c.1509A>G (p.Ile503Met) c.1323A>G (p.Ile441Met) c.1242A>G (p.Ile414Met) c.948A>G (p.Ile316Met) c.1329A>G (p.Ile443Met) | |
2 | g.48688213T>G | CA426125329 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1584A>C (p.Ile528=) c.948-74A>C (n.948-74A>C) c.3441+16533T>G (n.3441+16533T>G) c.*328A>C (n.*328A>C) c.1503A>C (p.Ile501=) c.276+16533T>G (n.276+16533T>G) c.*220+6011A>C (n.*220+6011A>C) c.627A>C (p.Ile209=) c.654A>C (p.Ile218=) c.1509A>C (p.Ile503=) c.1323A>C (p.Ile441=) c.1242A>C (p.Ile414=) c.948A>C (p.Ile316=) c.1329A>C (p.Ile443=) | |
2 | g.48688214A>C | CA346746066 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1583T>G (p.Ile528Arg) c.948-75T>G (n.948-75T>G) c.3441+16534A>C (n.3441+16534A>C) c.*327T>G (n.*327T>G) c.1502T>G (p.Ile501Arg) c.276+16534A>C (n.276+16534A>C) c.*220+6010T>G (n.*220+6010T>G) c.626T>G (p.Ile209Arg) c.653T>G (p.Ile218Arg) c.1508T>G (p.Ile503Arg) c.1322T>G (p.Ile441Arg) c.1241T>G (p.Ile414Arg) c.947T>G (p.Ile316Arg) c.1328T>G (p.Ile443Arg) | |
2 | g.48688214A>G | CA346746073 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1583T>C (p.Ile528Thr) c.948-75T>C (n.948-75T>C) c.3441+16534A>G (n.3441+16534A>G) c.*327T>C (n.*327T>C) c.1502T>C (p.Ile501Thr) c.276+16534A>G (n.276+16534A>G) c.*220+6010T>C (n.*220+6010T>C) c.626T>C (p.Ile209Thr) c.653T>C (p.Ile218Thr) c.1508T>C (p.Ile503Thr) c.1322T>C (p.Ile441Thr) c.1241T>C (p.Ile414Thr) c.947T>C (p.Ile316Thr) c.1328T>C (p.Ile443Thr) | COSMIC |
2 | g.48688214A>T | CA346746074 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1583T>A (p.Ile528Lys) c.948-75T>A (n.948-75T>A) c.3441+16534A>T (n.3441+16534A>T) c.*327T>A (n.*327T>A) c.1502T>A (p.Ile501Lys) c.276+16534A>T (n.276+16534A>T) c.*220+6010T>A (n.*220+6010T>A) c.626T>A (p.Ile209Lys) c.653T>A (p.Ile218Lys) c.1508T>A (p.Ile503Lys) c.1322T>A (p.Ile441Lys) c.1241T>A (p.Ile414Lys) c.947T>A (p.Ile316Lys) c.1328T>A (p.Ile443Lys) | |
2 | g.48688215T>A | CA346746078 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1582A>T (p.Ile528Leu) c.948-76A>T (n.948-76A>T) c.3441+16535T>A (n.3441+16535T>A) c.*326A>T (n.*326A>T) c.1501A>T (p.Ile501Leu) c.276+16535T>A (n.276+16535T>A) c.*220+6009A>T (n.*220+6009A>T) c.625A>T (p.Ile209Leu) c.652A>T (p.Ile218Leu) c.1507A>T (p.Ile503Leu) c.1321A>T (p.Ile441Leu) c.1240A>T (p.Ile414Leu) c.946A>T (p.Ile316Leu) c.1327A>T (p.Ile443Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688215T>C | CA346746080 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1582A>G (p.Ile528Val) c.948-76A>G (n.948-76A>G) c.3441+16535T>C (n.3441+16535T>C) c.*326A>G (n.*326A>G) c.1501A>G (p.Ile501Val) c.276+16535T>C (n.276+16535T>C) c.*220+6009A>G (n.*220+6009A>G) c.625A>G (p.Ile209Val) c.652A>G (p.Ile218Val) c.1507A>G (p.Ile503Val) c.1321A>G (p.Ile441Val) c.1240A>G (p.Ile414Val) c.946A>G (p.Ile316Val) c.1327A>G (p.Ile443Val) | gnomAD v4 |
2 | g.48688215T>G | CA346746085 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1582A>C (p.Ile528Leu) c.948-76A>C (n.948-76A>C) c.3441+16535T>G (n.3441+16535T>G) c.*326A>C (n.*326A>C) c.1501A>C (p.Ile501Leu) c.276+16535T>G (n.276+16535T>G) c.*220+6009A>C (n.*220+6009A>C) c.625A>C (p.Ile209Leu) c.652A>C (p.Ile218Leu) c.1507A>C (p.Ile503Leu) c.1321A>C (p.Ile441Leu) c.1240A>C (p.Ile414Leu) c.946A>C (p.Ile316Leu) c.1327A>C (p.Ile443Leu) | |
2 | g.48688215T= | CA1248601035 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1582A= (p.Ile528=) c.948-76A= (n.948-76A=) c.3441+16535T= (n.3441+16535T=) c.*326A= (n.*326A=) c.1501A= (p.Ile501=) c.276+16535T= (n.276+16535T=) c.*220+6009A= (n.*220+6009A=) c.625A= (p.Ile209=) c.652A= (p.Ile218=) c.1507A= (p.Ile503=) c.1321A= (p.Ile441=) c.1240A= (p.Ile414=) c.946A= (p.Ile316=) c.1327A= (p.Ile443=) | |
2 | g.48688216A= | CA1248601036 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1581T= (p.Tyr527=) c.948-77T= (n.948-77T=) c.3441+16536A= (n.3441+16536A=) c.*325T= (n.*325T=) c.1500T= (p.Tyr500=) c.276+16536A= (n.276+16536A=) c.*220+6008T= (n.*220+6008T=) c.624T= (p.Tyr208=) c.651T= (p.Tyr217=) c.1506T= (p.Tyr502=) c.1320T= (p.Tyr440=) c.1239T= (p.Tyr413=) c.945T= (p.Tyr315=) c.1326T= (p.Tyr442=) | |
2 | g.48688216A>C | CA346746096 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1581T>G (p.Tyr527Ter) c.948-77T>G (n.948-77T>G) c.3441+16536A>C (n.3441+16536A>C) c.*325T>G (n.*325T>G) c.1500T>G (p.Tyr500Ter) c.276+16536A>C (n.276+16536A>C) c.*220+6008T>G (n.*220+6008T>G) c.624T>G (p.Tyr208Ter) c.651T>G (p.Tyr217Ter) c.1506T>G (p.Tyr502Ter) c.1320T>G (p.Tyr440Ter) c.1239T>G (p.Tyr413Ter) c.945T>G (p.Tyr315Ter) c.1326T>G (p.Tyr442Ter) | |
2 | g.48688216A>G | CA1653014 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1581T>C (p.Tyr527=) c.948-77T>C (n.948-77T>C) c.3441+16536A>G (n.3441+16536A>G) c.*325T>C (n.*325T>C) c.1500T>C (p.Tyr500=) c.276+16536A>G (n.276+16536A>G) c.*220+6008T>C (n.*220+6008T>C) c.624T>C (p.Tyr208=) c.651T>C (p.Tyr217=) c.1506T>C (p.Tyr502=) c.1320T>C (p.Tyr440=) c.1239T>C (p.Tyr413=) c.945T>C (p.Tyr315=) c.1326T>C (p.Tyr442=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48688216A>T | CA346746086 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1581T>A (p.Tyr527Ter) c.948-77T>A (n.948-77T>A) c.3441+16536A>T (n.3441+16536A>T) c.*325T>A (n.*325T>A) c.1500T>A (p.Tyr500Ter) c.276+16536A>T (n.276+16536A>T) c.*220+6008T>A (n.*220+6008T>A) c.624T>A (p.Tyr208Ter) c.651T>A (p.Tyr217Ter) c.1506T>A (p.Tyr502Ter) c.1320T>A (p.Tyr440Ter) c.1239T>A (p.Tyr413Ter) c.945T>A (p.Tyr315Ter) c.1326T>A (p.Tyr442Ter) | |
2 | g.48688217T>A | CA346746097 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1580A>T (p.Tyr527Phe) c.948-78A>T (n.948-78A>T) c.3441+16537T>A (n.3441+16537T>A) c.*324A>T (n.*324A>T) c.1499A>T (p.Tyr500Phe) c.276+16537T>A (n.276+16537T>A) c.*220+6007A>T (n.*220+6007A>T) c.623A>T (p.Tyr208Phe) c.650A>T (p.Tyr217Phe) c.1505A>T (p.Tyr502Phe) c.1319A>T (p.Tyr440Phe) c.1238A>T (p.Tyr413Phe) c.944A>T (p.Tyr315Phe) c.1325A>T (p.Tyr442Phe) | |
2 | g.48688217T>C | CA1653015 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1580A>G (p.Tyr527Cys) c.948-78A>G (n.948-78A>G) c.3441+16537T>C (n.3441+16537T>C) c.*324A>G (n.*324A>G) c.1499A>G (p.Tyr500Cys) c.276+16537T>C (n.276+16537T>C) c.*220+6007A>G (n.*220+6007A>G) c.623A>G (p.Tyr208Cys) c.650A>G (p.Tyr217Cys) c.1505A>G (p.Tyr502Cys) c.1319A>G (p.Tyr440Cys) c.1238A>G (p.Tyr413Cys) c.944A>G (p.Tyr315Cys) c.1325A>G (p.Tyr442Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48688217T>G | CA346746100 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1580A>C (p.Tyr527Ser) c.948-78A>C (n.948-78A>C) c.3441+16537T>G (n.3441+16537T>G) c.*324A>C (n.*324A>C) c.1499A>C (p.Tyr500Ser) c.276+16537T>G (n.276+16537T>G) c.*220+6007A>C (n.*220+6007A>C) c.623A>C (p.Tyr208Ser) c.650A>C (p.Tyr217Ser) c.1505A>C (p.Tyr502Ser) c.1319A>C (p.Tyr440Ser) c.1238A>C (p.Tyr413Ser) c.944A>C (p.Tyr315Ser) c.1325A>C (p.Tyr442Ser) | |
2 | g.48688217T= | CA1248601037 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1580A= (p.Tyr527=) c.948-78A= (n.948-78A=) c.3441+16537T= (n.3441+16537T=) c.*324A= (n.*324A=) c.1499A= (p.Tyr500=) c.276+16537T= (n.276+16537T=) c.*220+6007A= (n.*220+6007A=) c.623A= (p.Tyr208=) c.650A= (p.Tyr217=) c.1505A= (p.Tyr502=) c.1319A= (p.Tyr440=) c.1238A= (p.Tyr413=) c.944A= (p.Tyr315=) c.1325A= (p.Tyr442=) | |
2 | g.48688218A>C | CA346746104 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1579T>G (p.Tyr527Asp) c.948-79T>G (n.948-79T>G) c.3441+16538A>C (n.3441+16538A>C) c.*323T>G (n.*323T>G) c.1498T>G (p.Tyr500Asp) c.276+16538A>C (n.276+16538A>C) c.*220+6006T>G (n.*220+6006T>G) c.622T>G (p.Tyr208Asp) c.649T>G (p.Tyr217Asp) c.1504T>G (p.Tyr502Asp) c.1318T>G (p.Tyr440Asp) c.1237T>G (p.Tyr413Asp) c.943T>G (p.Tyr315Asp) c.1324T>G (p.Tyr442Asp) | |
2 | g.48688218A>G | CA346746111 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1579T>C (p.Tyr527His) c.948-79T>C (n.948-79T>C) c.3441+16538A>G (n.3441+16538A>G) c.*323T>C (n.*323T>C) c.1498T>C (p.Tyr500His) c.276+16538A>G (n.276+16538A>G) c.*220+6006T>C (n.*220+6006T>C) c.622T>C (p.Tyr208His) c.649T>C (p.Tyr217His) c.1504T>C (p.Tyr502His) c.1318T>C (p.Tyr440His) c.1237T>C (p.Tyr413His) c.943T>C (p.Tyr315His) c.1324T>C (p.Tyr442His) | |
2 | g.48688218A>T | CA346746114 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1579T>A (p.Tyr527Asn) c.948-79T>A (n.948-79T>A) c.3441+16538A>T (n.3441+16538A>T) c.*323T>A (n.*323T>A) c.1498T>A (p.Tyr500Asn) c.276+16538A>T (n.276+16538A>T) c.*220+6006T>A (n.*220+6006T>A) c.622T>A (p.Tyr208Asn) c.649T>A (p.Tyr217Asn) c.1504T>A (p.Tyr502Asn) c.1318T>A (p.Tyr440Asn) c.1237T>A (p.Tyr413Asn) c.943T>A (p.Tyr315Asn) c.1324T>A (p.Tyr442Asn) | gnomAD v4 |
2 | g.48688219G>A | CA426125345 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1578C>T (p.Val526=) c.948-80C>T (n.948-80C>T) c.3441+16539G>A (n.3441+16539G>A) c.*322C>T (n.*322C>T) c.1497C>T (p.Val499=) c.276+16539G>A (n.276+16539G>A) c.*220+6005C>T (n.*220+6005C>T) c.621C>T (p.Val207=) c.648C>T (p.Val216=) c.1503C>T (p.Val501=) c.1317C>T (p.Val439=) c.1236C>T (p.Val412=) c.942C>T (p.Val314=) c.1323C>T (p.Val441=) | |
2 | g.48688219G>C | CA426125348 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1578C>G (p.Val526=) c.948-80C>G (n.948-80C>G) c.3441+16539G>C (n.3441+16539G>C) c.*322C>G (n.*322C>G) c.1497C>G (p.Val499=) c.276+16539G>C (n.276+16539G>C) c.*220+6005C>G (n.*220+6005C>G) c.621C>G (p.Val207=) c.648C>G (p.Val216=) c.1503C>G (p.Val501=) c.1317C>G (p.Val439=) c.1236C>G (p.Val412=) c.942C>G (p.Val314=) c.1323C>G (p.Val441=) | |
2 | g.48688219G>T | CA426125352 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1578C>A (p.Val526=) c.948-80C>A (n.948-80C>A) c.3441+16539G>T (n.3441+16539G>T) c.*322C>A (n.*322C>A) c.1497C>A (p.Val499=) c.276+16539G>T (n.276+16539G>T) c.*220+6005C>A (n.*220+6005C>A) c.621C>A (p.Val207=) c.648C>A (p.Val216=) c.1503C>A (p.Val501=) c.1317C>A (p.Val439=) c.1236C>A (p.Val412=) c.942C>A (p.Val314=) c.1323C>A (p.Val441=) | |
2 | g.48688220A>C | CA346746120 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1577T>G (p.Val526Gly) c.948-81T>G (n.948-81T>G) c.3441+16540A>C (n.3441+16540A>C) c.*321T>G (n.*321T>G) c.1496T>G (p.Val499Gly) c.276+16540A>C (n.276+16540A>C) c.*220+6004T>G (n.*220+6004T>G) c.620T>G (p.Val207Gly) c.647T>G (p.Val216Gly) c.1502T>G (p.Val501Gly) c.1316T>G (p.Val439Gly) c.1235T>G (p.Val412Gly) c.941T>G (p.Val314Gly) c.1322T>G (p.Val441Gly) | |
2 | g.48688220A>G | CA346746123 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1577T>C (p.Val526Ala) c.948-81T>C (n.948-81T>C) c.3441+16540A>G (n.3441+16540A>G) c.*321T>C (n.*321T>C) c.1496T>C (p.Val499Ala) c.276+16540A>G (n.276+16540A>G) c.*220+6004T>C (n.*220+6004T>C) c.620T>C (p.Val207Ala) c.647T>C (p.Val216Ala) c.1502T>C (p.Val501Ala) c.1316T>C (p.Val439Ala) c.1235T>C (p.Val412Ala) c.941T>C (p.Val314Ala) c.1322T>C (p.Val441Ala) | |
2 | g.48688220A>T | CA346746125 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1577T>A (p.Val526Asp) c.948-81T>A (n.948-81T>A) c.3441+16540A>T (n.3441+16540A>T) c.*321T>A (n.*321T>A) c.1496T>A (p.Val499Asp) c.276+16540A>T (n.276+16540A>T) c.*220+6004T>A (n.*220+6004T>A) c.620T>A (p.Val207Asp) c.647T>A (p.Val216Asp) c.1502T>A (p.Val501Asp) c.1316T>A (p.Val439Asp) c.1235T>A (p.Val412Asp) c.941T>A (p.Val314Asp) c.1322T>A (p.Val441Asp) | |
2 | g.48688221C>A | CA346746126 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1576G>T (p.Val526Phe) c.948-82G>T (n.948-82G>T) c.3441+16541C>A (n.3441+16541C>A) c.*320G>T (n.*320G>T) c.1495G>T (p.Val499Phe) c.276+16541C>A (n.276+16541C>A) c.*220+6003G>T (n.*220+6003G>T) c.619G>T (p.Val207Phe) c.646G>T (p.Val216Phe) c.1501G>T (p.Val501Phe) c.1315G>T (p.Val439Phe) c.1234G>T (p.Val412Phe) c.940G>T (p.Val314Phe) c.1321G>T (p.Val441Phe) | gnomAD v4 |
2 | g.48688221C>G | CA346746127 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1576G>C (p.Val526Leu) c.948-82G>C (n.948-82G>C) c.3441+16541C>G (n.3441+16541C>G) c.*320G>C (n.*320G>C) c.1495G>C (p.Val499Leu) c.276+16541C>G (n.276+16541C>G) c.*220+6003G>C (n.*220+6003G>C) c.619G>C (p.Val207Leu) c.646G>C (p.Val216Leu) c.1501G>C (p.Val501Leu) c.1315G>C (p.Val439Leu) c.1234G>C (p.Val412Leu) c.940G>C (p.Val314Leu) c.1321G>C (p.Val441Leu) | |
2 | g.48688221C>T | CA346746128 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1576G>A (p.Val526Ile) c.948-82G>A (n.948-82G>A) c.3441+16541C>T (n.3441+16541C>T) c.*320G>A (n.*320G>A) c.1495G>A (p.Val499Ile) c.276+16541C>T (n.276+16541C>T) c.*220+6003G>A (n.*220+6003G>A) c.619G>A (p.Val207Ile) c.646G>A (p.Val216Ile) c.1501G>A (p.Val501Ile) c.1315G>A (p.Val439Ile) c.1234G>A (p.Val412Ile) c.940G>A (p.Val314Ile) c.1321G>A (p.Val441Ile) | |
2 | g.48688222T>A | CA346746133 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1575A>T (p.Gln525His) c.948-83A>T (n.948-83A>T) c.3441+16542T>A (n.3441+16542T>A) c.*319A>T (n.*319A>T) c.1494A>T (p.Gln498His) c.276+16542T>A (n.276+16542T>A) c.*220+6002A>T (n.*220+6002A>T) c.618A>T (p.Gln206His) c.645A>T (p.Gln215His) c.1500A>T (p.Gln500His) c.1314A>T (p.Gln438His) c.1233A>T (p.Gln411His) c.939A>T (p.Gln313His) c.1320A>T (p.Gln440His) | |
2 | g.48688222T>C | CA1653016 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1575A>G (p.Gln525=) c.948-83A>G (n.948-83A>G) c.3441+16542T>C (n.3441+16542T>C) c.*319A>G (n.*319A>G) c.1494A>G (p.Gln498=) c.276+16542T>C (n.276+16542T>C) c.*220+6002A>G (n.*220+6002A>G) c.618A>G (p.Gln206=) c.645A>G (p.Gln215=) c.1500A>G (p.Gln500=) c.1314A>G (p.Gln438=) c.1233A>G (p.Gln411=) c.939A>G (p.Gln313=) c.1320A>G (p.Gln440=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688222T>G | CA346746130 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1575A>C (p.Gln525His) c.948-83A>C (n.948-83A>C) c.3441+16542T>G (n.3441+16542T>G) c.*319A>C (n.*319A>C) c.1494A>C (p.Gln498His) c.276+16542T>G (n.276+16542T>G) c.*220+6002A>C (n.*220+6002A>C) c.618A>C (p.Gln206His) c.645A>C (p.Gln215His) c.1500A>C (p.Gln500His) c.1314A>C (p.Gln438His) c.1233A>C (p.Gln411His) c.939A>C (p.Gln313His) c.1320A>C (p.Gln440His) | |
2 | g.48688222T= | CA1248601038 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1575A= (p.Gln525=) c.948-83A= (n.948-83A=) c.3441+16542T= (n.3441+16542T=) c.*319A= (n.*319A=) c.1494A= (p.Gln498=) c.276+16542T= (n.276+16542T=) c.*220+6002A= (n.*220+6002A=) c.618A= (p.Gln206=) c.645A= (p.Gln215=) c.1500A= (p.Gln500=) c.1314A= (p.Gln438=) c.1233A= (p.Gln411=) c.939A= (p.Gln313=) c.1320A= (p.Gln440=) | |
2 | g.48688223T>A | CA346746135 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1574A>T (p.Gln525Leu) c.948-84A>T (n.948-84A>T) c.3441+16543T>A (n.3441+16543T>A) c.*318A>T (n.*318A>T) c.1493A>T (p.Gln498Leu) c.276+16543T>A (n.276+16543T>A) c.*220+6001A>T (n.*220+6001A>T) c.617A>T (p.Gln206Leu) c.644A>T (p.Gln215Leu) c.1499A>T (p.Gln500Leu) c.1313A>T (p.Gln438Leu) c.1232A>T (p.Gln411Leu) c.938A>T (p.Gln313Leu) c.1319A>T (p.Gln440Leu) | |
2 | g.48688223T>C | CA346746140 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1574A>G (p.Gln525Arg) c.948-84A>G (n.948-84A>G) c.3441+16543T>C (n.3441+16543T>C) c.*318A>G (n.*318A>G) c.1493A>G (p.Gln498Arg) c.276+16543T>C (n.276+16543T>C) c.*220+6001A>G (n.*220+6001A>G) c.617A>G (p.Gln206Arg) c.644A>G (p.Gln215Arg) c.1499A>G (p.Gln500Arg) c.1313A>G (p.Gln438Arg) c.1232A>G (p.Gln411Arg) c.938A>G (p.Gln313Arg) c.1319A>G (p.Gln440Arg) | gnomAD v4 |
2 | g.48688223T>G | CA346746142 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1574A>C (p.Gln525Pro) c.948-84A>C (n.948-84A>C) c.3441+16543T>G (n.3441+16543T>G) c.*318A>C (n.*318A>C) c.1493A>C (p.Gln498Pro) c.276+16543T>G (n.276+16543T>G) c.*220+6001A>C (n.*220+6001A>C) c.617A>C (p.Gln206Pro) c.644A>C (p.Gln215Pro) c.1499A>C (p.Gln500Pro) c.1313A>C (p.Gln438Pro) c.1232A>C (p.Gln411Pro) c.938A>C (p.Gln313Pro) c.1319A>C (p.Gln440Pro) | |
2 | g.48688224G>A | CA346746145 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1573C>T (p.Gln525Ter) c.948-85C>T (n.948-85C>T) c.3441+16544G>A (n.3441+16544G>A) c.*317C>T (n.*317C>T) c.1492C>T (p.Gln498Ter) c.276+16544G>A (n.276+16544G>A) c.*220+6000C>T (n.*220+6000C>T) c.616C>T (p.Gln206Ter) c.643C>T (p.Gln215Ter) c.1498C>T (p.Gln500Ter) c.1312C>T (p.Gln438Ter) c.1231C>T (p.Gln411Ter) c.937C>T (p.Gln313Ter) c.1318C>T (p.Gln440Ter) | ClinVar dbSNP gnomAD v4 |
2 | g.48688224G>C | CA346746147 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1573C>G (p.Gln525Glu) c.948-85C>G (n.948-85C>G) c.3441+16544G>C (n.3441+16544G>C) c.*317C>G (n.*317C>G) c.1492C>G (p.Gln498Glu) c.276+16544G>C (n.276+16544G>C) c.*220+6000C>G (n.*220+6000C>G) c.616C>G (p.Gln206Glu) c.643C>G (p.Gln215Glu) c.1498C>G (p.Gln500Glu) c.1312C>G (p.Gln438Glu) c.1231C>G (p.Gln411Glu) c.937C>G (p.Gln313Glu) c.1318C>G (p.Gln440Glu) | |
2 | g.48688224G= | CA1248601039 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1573C= (p.Gln525=) c.948-85C= (n.948-85C=) c.3441+16544G= (n.3441+16544G=) c.*317C= (n.*317C=) c.1492C= (p.Gln498=) c.276+16544G= (n.276+16544G=) c.*220+6000C= (n.*220+6000C=) c.616C= (p.Gln206=) c.643C= (p.Gln215=) c.1498C= (p.Gln500=) c.1312C= (p.Gln438=) c.1231C= (p.Gln411=) c.937C= (p.Gln313=) c.1318C= (p.Gln440=) | |
2 | g.48688224G>T | CA346746149 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1573C>A (p.Gln525Lys) c.948-85C>A (n.948-85C>A) c.3441+16544G>T (n.3441+16544G>T) c.*317C>A (n.*317C>A) c.1492C>A (p.Gln498Lys) c.276+16544G>T (n.276+16544G>T) c.*220+6000C>A (n.*220+6000C>A) c.616C>A (p.Gln206Lys) c.643C>A (p.Gln215Lys) c.1498C>A (p.Gln500Lys) c.1312C>A (p.Gln438Lys) c.1231C>A (p.Gln411Lys) c.937C>A (p.Gln313Lys) c.1318C>A (p.Gln440Lys) | |
2 | g.48688225T>A | CA426125377 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1572A>T (p.Ser524=) c.948-86A>T (n.948-86A>T) c.3441+16545T>A (n.3441+16545T>A) c.*316A>T (n.*316A>T) c.1491A>T (p.Ser497=) c.276+16545T>A (n.276+16545T>A) c.*220+5999A>T (n.*220+5999A>T) c.615A>T (p.Ser205=) c.642A>T (p.Ser214=) c.1497A>T (p.Ser499=) c.1311A>T (p.Ser437=) c.1230A>T (p.Ser410=) c.936A>T (p.Ser312=) c.1317A>T (p.Ser439=) | |
2 | g.48688225T>C | CA1653017 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1572A>G (p.Ser524=) c.948-86A>G (n.948-86A>G) c.3441+16545T>C (n.3441+16545T>C) c.*316A>G (n.*316A>G) c.1491A>G (p.Ser497=) c.276+16545T>C (n.276+16545T>C) c.*220+5999A>G (n.*220+5999A>G) c.615A>G (p.Ser205=) c.642A>G (p.Ser214=) c.1497A>G (p.Ser499=) c.1311A>G (p.Ser437=) c.1230A>G (p.Ser410=) c.936A>G (p.Ser312=) c.1317A>G (p.Ser439=) | dbSNP ExAC gnomAD v2 |
2 | g.48688225T>G | CA426125378 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1572A>C (p.Ser524=) c.948-86A>C (n.948-86A>C) c.3441+16545T>G (n.3441+16545T>G) c.*316A>C (n.*316A>C) c.1491A>C (p.Ser497=) c.276+16545T>G (n.276+16545T>G) c.*220+5999A>C (n.*220+5999A>C) c.615A>C (p.Ser205=) c.642A>C (p.Ser214=) c.1497A>C (p.Ser499=) c.1311A>C (p.Ser437=) c.1230A>C (p.Ser410=) c.936A>C (p.Ser312=) c.1317A>C (p.Ser439=) | |
2 | g.48688225T= | CA1248601040 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1572A= (p.Ser524=) c.948-86A= (n.948-86A=) c.3441+16545T= (n.3441+16545T=) c.*316A= (n.*316A=) c.1491A= (p.Ser497=) c.276+16545T= (n.276+16545T=) c.*220+5999A= (n.*220+5999A=) c.615A= (p.Ser205=) c.642A= (p.Ser214=) c.1497A= (p.Ser499=) c.1311A= (p.Ser437=) c.1230A= (p.Ser410=) c.936A= (p.Ser312=) c.1317A= (p.Ser439=) | |
2 | g.48688226G>A | CA346746155 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1571C>T (p.Ser524Leu) c.948-87C>T (n.948-87C>T) c.3441+16546G>A (n.3441+16546G>A) c.*315C>T (n.*315C>T) c.1490C>T (p.Ser497Leu) c.276+16546G>A (n.276+16546G>A) c.*220+5998C>T (n.*220+5998C>T) c.614C>T (p.Ser205Leu) c.641C>T (p.Ser214Leu) c.1496C>T (p.Ser499Leu) c.1310C>T (p.Ser437Leu) c.1229C>T (p.Ser410Leu) c.935C>T (p.Ser312Leu) c.1316C>T (p.Ser439Leu) | COSMIC |
2 | g.48688226G>C | CA346746157 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1571C>G (p.Ser524Ter) c.948-87C>G (n.948-87C>G) c.3441+16546G>C (n.3441+16546G>C) c.*315C>G (n.*315C>G) c.1490C>G (p.Ser497Ter) c.276+16546G>C (n.276+16546G>C) c.*220+5998C>G (n.*220+5998C>G) c.614C>G (p.Ser205Ter) c.641C>G (p.Ser214Ter) c.1496C>G (p.Ser499Ter) c.1310C>G (p.Ser437Ter) c.1229C>G (p.Ser410Ter) c.935C>G (p.Ser312Ter) c.1316C>G (p.Ser439Ter) | |
2 | g.48688226G>T | CA346746159 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1571C>A (p.Ser524Ter) c.948-87C>A (n.948-87C>A) c.3441+16546G>T (n.3441+16546G>T) c.*315C>A (n.*315C>A) c.1490C>A (p.Ser497Ter) c.276+16546G>T (n.276+16546G>T) c.*220+5998C>A (n.*220+5998C>A) c.614C>A (p.Ser205Ter) c.641C>A (p.Ser214Ter) c.1496C>A (p.Ser499Ter) c.1310C>A (p.Ser437Ter) c.1229C>A (p.Ser410Ter) c.935C>A (p.Ser312Ter) c.1316C>A (p.Ser439Ter) | |
2 | g.48688227A>C | CA346746161 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1570T>G (p.Ser524Ala) c.948-88T>G (n.948-88T>G) c.3441+16547A>C (n.3441+16547A>C) c.*314T>G (n.*314T>G) c.1489T>G (p.Ser497Ala) c.276+16547A>C (n.276+16547A>C) c.*220+5997T>G (n.*220+5997T>G) c.613T>G (p.Ser205Ala) c.640T>G (p.Ser214Ala) c.1495T>G (p.Ser499Ala) c.1309T>G (p.Ser437Ala) c.1228T>G (p.Ser410Ala) c.934T>G (p.Ser312Ala) c.1315T>G (p.Ser439Ala) | |
2 | g.48688227A>G | CA346746162 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1570T>C (p.Ser524Pro) c.948-88T>C (n.948-88T>C) c.3441+16547A>G (n.3441+16547A>G) c.*314T>C (n.*314T>C) c.1489T>C (p.Ser497Pro) c.276+16547A>G (n.276+16547A>G) c.*220+5997T>C (n.*220+5997T>C) c.613T>C (p.Ser205Pro) c.640T>C (p.Ser214Pro) c.1495T>C (p.Ser499Pro) c.1309T>C (p.Ser437Pro) c.1228T>C (p.Ser410Pro) c.934T>C (p.Ser312Pro) c.1315T>C (p.Ser439Pro) | |
2 | g.48688227A>T | CA346746163 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1570T>A (p.Ser524Thr) c.948-88T>A (n.948-88T>A) c.3441+16547A>T (n.3441+16547A>T) c.*314T>A (n.*314T>A) c.1489T>A (p.Ser497Thr) c.276+16547A>T (n.276+16547A>T) c.*220+5997T>A (n.*220+5997T>A) c.613T>A (p.Ser205Thr) c.640T>A (p.Ser214Thr) c.1495T>A (p.Ser499Thr) c.1309T>A (p.Ser437Thr) c.1228T>A (p.Ser410Thr) c.934T>A (p.Ser312Thr) c.1315T>A (p.Ser439Thr) | |
2 | g.48688228G>A | CA426125391 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1569C>T (p.Leu523=) c.948-89C>T (n.948-89C>T) c.3441+16548G>A (n.3441+16548G>A) c.*313C>T (n.*313C>T) c.1488C>T (p.Leu496=) c.276+16548G>A (n.276+16548G>A) c.*220+5996C>T (n.*220+5996C>T) c.612C>T (p.Leu204=) c.639C>T (p.Leu213=) c.1494C>T (p.Leu498=) c.1308C>T (p.Leu436=) c.1227C>T (p.Leu409=) c.933C>T (p.Leu311=) c.1314C>T (p.Leu438=) | gnomAD v4 |
2 | g.48688228G>C | CA426125392 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1569C>G (p.Leu523=) c.948-89C>G (n.948-89C>G) c.3441+16548G>C (n.3441+16548G>C) c.*313C>G (n.*313C>G) c.1488C>G (p.Leu496=) c.276+16548G>C (n.276+16548G>C) c.*220+5996C>G (n.*220+5996C>G) c.612C>G (p.Leu204=) c.639C>G (p.Leu213=) c.1494C>G (p.Leu498=) c.1308C>G (p.Leu436=) c.1227C>G (p.Leu409=) c.933C>G (p.Leu311=) c.1314C>G (p.Leu438=) | |
2 | g.48688228G>T | CA426125393 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1569C>A (p.Leu523=) c.948-89C>A (n.948-89C>A) c.3441+16548G>T (n.3441+16548G>T) c.*313C>A (n.*313C>A) c.1488C>A (p.Leu496=) c.276+16548G>T (n.276+16548G>T) c.*220+5996C>A (n.*220+5996C>A) c.612C>A (p.Leu204=) c.639C>A (p.Leu213=) c.1494C>A (p.Leu498=) c.1308C>A (p.Leu436=) c.1227C>A (p.Leu409=) c.933C>A (p.Leu311=) c.1314C>A (p.Leu438=) | |
2 | g.48688229A>C | CA346746169 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1568T>G (p.Leu523Arg) c.948-90T>G (n.948-90T>G) c.3441+16549A>C (n.3441+16549A>C) c.*312T>G (n.*312T>G) c.1487T>G (p.Leu496Arg) c.276+16549A>C (n.276+16549A>C) c.*220+5995T>G (n.*220+5995T>G) c.611T>G (p.Leu204Arg) c.638T>G (p.Leu213Arg) c.1493T>G (p.Leu498Arg) c.1307T>G (p.Leu436Arg) c.1226T>G (p.Leu409Arg) c.932T>G (p.Leu311Arg) c.1313T>G (p.Leu438Arg) | gnomAD v4 |
2 | g.48688229A>G | CA346746172 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1568T>C (p.Leu523Pro) c.948-90T>C (n.948-90T>C) c.3441+16549A>G (n.3441+16549A>G) c.*312T>C (n.*312T>C) c.1487T>C (p.Leu496Pro) c.276+16549A>G (n.276+16549A>G) c.*220+5995T>C (n.*220+5995T>C) c.611T>C (p.Leu204Pro) c.638T>C (p.Leu213Pro) c.1493T>C (p.Leu498Pro) c.1307T>C (p.Leu436Pro) c.1226T>C (p.Leu409Pro) c.932T>C (p.Leu311Pro) c.1313T>C (p.Leu438Pro) | |
2 | g.48688229A>T | CA346746165 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1568T>A (p.Leu523His) c.948-90T>A (n.948-90T>A) c.3441+16549A>T (n.3441+16549A>T) c.*312T>A (n.*312T>A) c.1487T>A (p.Leu496His) c.276+16549A>T (n.276+16549A>T) c.*220+5995T>A (n.*220+5995T>A) c.611T>A (p.Leu204His) c.638T>A (p.Leu213His) c.1493T>A (p.Leu498His) c.1307T>A (p.Leu436His) c.1226T>A (p.Leu409His) c.932T>A (p.Leu311His) c.1313T>A (p.Leu438His) | |
2 | g.48688230G>A | CA346746177 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1567C>T (p.Leu523Phe) c.948-91C>T (n.948-91C>T) c.3441+16550G>A (n.3441+16550G>A) c.*311C>T (n.*311C>T) c.1486C>T (p.Leu496Phe) c.276+16550G>A (n.276+16550G>A) c.*220+5994C>T (n.*220+5994C>T) c.610C>T (p.Leu204Phe) c.637C>T (p.Leu213Phe) c.1492C>T (p.Leu498Phe) c.1306C>T (p.Leu436Phe) c.1225C>T (p.Leu409Phe) c.931C>T (p.Leu311Phe) c.1312C>T (p.Leu438Phe) | COSMIC |
2 | g.48688230G>C | CA346746176 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1567C>G (p.Leu523Val) c.948-91C>G (n.948-91C>G) c.3441+16550G>C (n.3441+16550G>C) c.*311C>G (n.*311C>G) c.1486C>G (p.Leu496Val) c.276+16550G>C (n.276+16550G>C) c.*220+5994C>G (n.*220+5994C>G) c.610C>G (p.Leu204Val) c.637C>G (p.Leu213Val) c.1492C>G (p.Leu498Val) c.1306C>G (p.Leu436Val) c.1225C>G (p.Leu409Val) c.931C>G (p.Leu311Val) c.1312C>G (p.Leu438Val) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48688230G= | CA1248601041 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1567C= (p.Leu523=) c.948-91C= (n.948-91C=) c.3441+16550G= (n.3441+16550G=) c.*311C= (n.*311C=) c.1486C= (p.Leu496=) c.276+16550G= (n.276+16550G=) c.*220+5994C= (n.*220+5994C=) c.610C= (p.Leu204=) c.637C= (p.Leu213=) c.1492C= (p.Leu498=) c.1306C= (p.Leu436=) c.1225C= (p.Leu409=) c.931C= (p.Leu311=) c.1312C= (p.Leu438=) | |
2 | g.48688230G>T | CA346746178 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1567C>A (p.Leu523Ile) c.948-91C>A (n.948-91C>A) c.3441+16550G>T (n.3441+16550G>T) c.*311C>A (n.*311C>A) c.1486C>A (p.Leu496Ile) c.276+16550G>T (n.276+16550G>T) c.*220+5994C>A (n.*220+5994C>A) c.610C>A (p.Leu204Ile) c.637C>A (p.Leu213Ile) c.1492C>A (p.Leu498Ile) c.1306C>A (p.Leu436Ile) c.1225C>A (p.Leu409Ile) c.931C>A (p.Leu311Ile) c.1312C>A (p.Leu438Ile) | gnomAD v4 |
2 | g.48688231A>C | CA426125403 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1566T>G (p.Thr522=) c.948-92T>G (n.948-92T>G) c.3441+16551A>C (n.3441+16551A>C) c.*310T>G (n.*310T>G) c.1485T>G (p.Thr495=) c.276+16551A>C (n.276+16551A>C) c.*220+5993T>G (n.*220+5993T>G) c.609T>G (p.Thr203=) c.636T>G (p.Thr212=) c.1491T>G (p.Thr497=) c.1305T>G (p.Thr435=) c.1224T>G (p.Thr408=) c.930T>G (p.Thr310=) c.1311T>G (p.Thr437=) | |
2 | g.48688231A>G | CA426125407 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1566T>C (p.Thr522=) c.948-92T>C (n.948-92T>C) c.3441+16551A>G (n.3441+16551A>G) c.*310T>C (n.*310T>C) c.1485T>C (p.Thr495=) c.276+16551A>G (n.276+16551A>G) c.*220+5993T>C (n.*220+5993T>C) c.609T>C (p.Thr203=) c.636T>C (p.Thr212=) c.1491T>C (p.Thr497=) c.1305T>C (p.Thr435=) c.1224T>C (p.Thr408=) c.930T>C (p.Thr310=) c.1311T>C (p.Thr437=) | |
2 | g.48688231A>T | CA426125409 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1566T>A (p.Thr522=) c.948-92T>A (n.948-92T>A) c.3441+16551A>T (n.3441+16551A>T) c.*310T>A (n.*310T>A) c.1485T>A (p.Thr495=) c.276+16551A>T (n.276+16551A>T) c.*220+5993T>A (n.*220+5993T>A) c.609T>A (p.Thr203=) c.636T>A (p.Thr212=) c.1491T>A (p.Thr497=) c.1305T>A (p.Thr435=) c.1224T>A (p.Thr408=) c.930T>A (p.Thr310=) c.1311T>A (p.Thr437=) | gnomAD v4 |
2 | g.48688232G>A | CA346746179 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1565C>T (p.Thr522Ile) c.948-93C>T (n.948-93C>T) c.3441+16552G>A (n.3441+16552G>A) c.*309C>T (n.*309C>T) c.1484C>T (p.Thr495Ile) c.276+16552G>A (n.276+16552G>A) c.*220+5992C>T (n.*220+5992C>T) c.608C>T (p.Thr203Ile) c.635C>T (p.Thr212Ile) c.1490C>T (p.Thr497Ile) c.1304C>T (p.Thr435Ile) c.1223C>T (p.Thr408Ile) c.929C>T (p.Thr310Ile) c.1310C>T (p.Thr437Ile) | COSMIC |
2 | g.48688232G>C | CA1653018 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1565C>G (p.Thr522Ser) c.948-93C>G (n.948-93C>G) c.3441+16552G>C (n.3441+16552G>C) c.*309C>G (n.*309C>G) c.1484C>G (p.Thr495Ser) c.276+16552G>C (n.276+16552G>C) c.*220+5992C>G (n.*220+5992C>G) c.608C>G (p.Thr203Ser) c.635C>G (p.Thr212Ser) c.1490C>G (p.Thr497Ser) c.1304C>G (p.Thr435Ser) c.1223C>G (p.Thr408Ser) c.929C>G (p.Thr310Ser) c.1310C>G (p.Thr437Ser) | dbSNP ExAC gnomAD v2 |
2 | g.48688232G= | CA1248601042 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1565C= (p.Thr522=) c.948-93C= (n.948-93C=) c.3441+16552G= (n.3441+16552G=) c.*309C= (n.*309C=) c.1484C= (p.Thr495=) c.276+16552G= (n.276+16552G=) c.*220+5992C= (n.*220+5992C=) c.608C= (p.Thr203=) c.635C= (p.Thr212=) c.1490C= (p.Thr497=) c.1304C= (p.Thr435=) c.1223C= (p.Thr408=) c.929C= (p.Thr310=) c.1310C= (p.Thr437=) | |
2 | g.48688232G>T | CA346746181 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1565C>A (p.Thr522Asn) c.948-93C>A (n.948-93C>A) c.3441+16552G>T (n.3441+16552G>T) c.*309C>A (n.*309C>A) c.1484C>A (p.Thr495Asn) c.276+16552G>T (n.276+16552G>T) c.*220+5992C>A (n.*220+5992C>A) c.608C>A (p.Thr203Asn) c.635C>A (p.Thr212Asn) c.1490C>A (p.Thr497Asn) c.1304C>A (p.Thr435Asn) c.1223C>A (p.Thr408Asn) c.929C>A (p.Thr310Asn) c.1310C>A (p.Thr437Asn) | |
2 | g.48688233T>A | CA346746191 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1564A>T (p.Thr522Ser) c.948-94A>T (n.948-94A>T) c.3441+16553T>A (n.3441+16553T>A) c.*308A>T (n.*308A>T) c.1483A>T (p.Thr495Ser) c.276+16553T>A (n.276+16553T>A) c.*220+5991A>T (n.*220+5991A>T) c.607A>T (p.Thr203Ser) c.634A>T (p.Thr212Ser) c.1489A>T (p.Thr497Ser) c.1303A>T (p.Thr435Ser) c.1222A>T (p.Thr408Ser) c.928A>T (p.Thr310Ser) c.1309A>T (p.Thr437Ser) | |
2 | g.48688233T>C | CA346746195 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1564A>G (p.Thr522Ala) c.948-94A>G (n.948-94A>G) c.3441+16553T>C (n.3441+16553T>C) c.*308A>G (n.*308A>G) c.1483A>G (p.Thr495Ala) c.276+16553T>C (n.276+16553T>C) c.*220+5991A>G (n.*220+5991A>G) c.607A>G (p.Thr203Ala) c.634A>G (p.Thr212Ala) c.1489A>G (p.Thr497Ala) c.1303A>G (p.Thr435Ala) c.1222A>G (p.Thr408Ala) c.928A>G (p.Thr310Ala) c.1309A>G (p.Thr437Ala) | |
2 | g.48688233T>G | CA346746198 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1564A>C (p.Thr522Pro) c.948-94A>C (n.948-94A>C) c.3441+16553T>G (n.3441+16553T>G) c.*308A>C (n.*308A>C) c.1483A>C (p.Thr495Pro) c.276+16553T>G (n.276+16553T>G) c.*220+5991A>C (n.*220+5991A>C) c.607A>C (p.Thr203Pro) c.634A>C (p.Thr212Pro) c.1489A>C (p.Thr497Pro) c.1303A>C (p.Thr435Pro) c.1222A>C (p.Thr408Pro) c.928A>C (p.Thr310Pro) c.1309A>C (p.Thr437Pro) | |
2 | g.48688234G>A | CA426125411 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1563C>T (p.Thr521=) c.948-95C>T (n.948-95C>T) c.3441+16554G>A (n.3441+16554G>A) c.*307C>T (n.*307C>T) c.1482C>T (p.Thr494=) c.276+16554G>A (n.276+16554G>A) c.*220+5990C>T (n.*220+5990C>T) c.606C>T (p.Thr202=) c.633C>T (p.Thr211=) c.1488C>T (p.Thr496=) c.1302C>T (p.Thr434=) c.1221C>T (p.Thr407=) c.927C>T (p.Thr309=) c.1308C>T (p.Thr436=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48688234G>C | CA426125414 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1563C>G (p.Thr521=) c.948-95C>G (n.948-95C>G) c.3441+16554G>C (n.3441+16554G>C) c.*307C>G (n.*307C>G) c.1482C>G (p.Thr494=) c.276+16554G>C (n.276+16554G>C) c.*220+5990C>G (n.*220+5990C>G) c.606C>G (p.Thr202=) c.633C>G (p.Thr211=) c.1488C>G (p.Thr496=) c.1302C>G (p.Thr434=) c.1221C>G (p.Thr407=) c.927C>G (p.Thr309=) c.1308C>G (p.Thr436=) | |
2 | g.48688234G= | CA1248601043 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1563C= (p.Thr521=) c.948-95C= (n.948-95C=) c.3441+16554G= (n.3441+16554G=) c.*307C= (n.*307C=) c.1482C= (p.Thr494=) c.276+16554G= (n.276+16554G=) c.*220+5990C= (n.*220+5990C=) c.606C= (p.Thr202=) c.633C= (p.Thr211=) c.1488C= (p.Thr496=) c.1302C= (p.Thr434=) c.1221C= (p.Thr407=) c.927C= (p.Thr309=) c.1308C= (p.Thr436=) | |
2 | g.48688234G>T | CA426125416 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1563C>A (p.Thr521=) c.948-95C>A (n.948-95C>A) c.3441+16554G>T (n.3441+16554G>T) c.*307C>A (n.*307C>A) c.1482C>A (p.Thr494=) c.276+16554G>T (n.276+16554G>T) c.*220+5990C>A (n.*220+5990C>A) c.606C>A (p.Thr202=) c.633C>A (p.Thr211=) c.1488C>A (p.Thr496=) c.1302C>A (p.Thr434=) c.1221C>A (p.Thr407=) c.927C>A (p.Thr309=) c.1308C>A (p.Thr436=) | |
2 | g.48688235G>A | CA346746205 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1562C>T (p.Thr521Ile) c.948-96C>T (n.948-96C>T) c.3441+16555G>A (n.3441+16555G>A) c.*306C>T (n.*306C>T) c.1481C>T (p.Thr494Ile) c.276+16555G>A (n.276+16555G>A) c.*220+5989C>T (n.*220+5989C>T) c.605C>T (p.Thr202Ile) c.632C>T (p.Thr211Ile) c.1487C>T (p.Thr496Ile) c.1301C>T (p.Thr434Ile) c.1220C>T (p.Thr407Ile) c.926C>T (p.Thr309Ile) c.1307C>T (p.Thr436Ile) | |
2 | g.48688235G>C | CA346746207 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1562C>G (p.Thr521Ser) c.948-96C>G (n.948-96C>G) c.3441+16555G>C (n.3441+16555G>C) c.*306C>G (n.*306C>G) c.1481C>G (p.Thr494Ser) c.276+16555G>C (n.276+16555G>C) c.*220+5989C>G (n.*220+5989C>G) c.605C>G (p.Thr202Ser) c.632C>G (p.Thr211Ser) c.1487C>G (p.Thr496Ser) c.1301C>G (p.Thr434Ser) c.1220C>G (p.Thr407Ser) c.926C>G (p.Thr309Ser) c.1307C>G (p.Thr436Ser) | |
2 | g.48688235G= | CA1248601044 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1562C= (p.Thr521=) c.948-96C= (n.948-96C=) c.3441+16555G= (n.3441+16555G=) c.*306C= (n.*306C=) c.1481C= (p.Thr494=) c.276+16555G= (n.276+16555G=) c.*220+5989C= (n.*220+5989C=) c.605C= (p.Thr202=) c.632C= (p.Thr211=) c.1487C= (p.Thr496=) c.1301C= (p.Thr434=) c.1220C= (p.Thr407=) c.926C= (p.Thr309=) c.1307C= (p.Thr436=) | |
2 | g.48688235G>T | CA346746220 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1562C>A (p.Thr521Asn) c.948-96C>A (n.948-96C>A) c.3441+16555G>T (n.3441+16555G>T) c.*306C>A (n.*306C>A) c.1481C>A (p.Thr494Asn) c.276+16555G>T (n.276+16555G>T) c.*220+5989C>A (n.*220+5989C>A) c.605C>A (p.Thr202Asn) c.632C>A (p.Thr211Asn) c.1487C>A (p.Thr496Asn) c.1301C>A (p.Thr434Asn) c.1220C>A (p.Thr407Asn) c.926C>A (p.Thr309Asn) c.1307C>A (p.Thr436Asn) | dbSNP COSMIC |
2 | g.48688236T>A | CA346746223 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1561A>T (p.Thr521Ser) c.948-97A>T (n.948-97A>T) c.3441+16556T>A (n.3441+16556T>A) c.*305A>T (n.*305A>T) c.1480A>T (p.Thr494Ser) c.276+16556T>A (n.276+16556T>A) c.*220+5988A>T (n.*220+5988A>T) c.604A>T (p.Thr202Ser) c.631A>T (p.Thr211Ser) c.1486A>T (p.Thr496Ser) c.1300A>T (p.Thr434Ser) c.1219A>T (p.Thr407Ser) c.925A>T (p.Thr309Ser) c.1306A>T (p.Thr436Ser) | |
2 | g.48688236T>C | CA346746227 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1561A>G (p.Thr521Ala) c.948-97A>G (n.948-97A>G) c.3441+16556T>C (n.3441+16556T>C) c.*305A>G (n.*305A>G) c.1480A>G (p.Thr494Ala) c.276+16556T>C (n.276+16556T>C) c.*220+5988A>G (n.*220+5988A>G) c.604A>G (p.Thr202Ala) c.631A>G (p.Thr211Ala) c.1486A>G (p.Thr496Ala) c.1300A>G (p.Thr434Ala) c.1219A>G (p.Thr407Ala) c.925A>G (p.Thr309Ala) c.1306A>G (p.Thr436Ala) | gnomAD v4 |
2 | g.48688236T>G | CA346746230 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1561A>C (p.Thr521Pro) c.948-97A>C (n.948-97A>C) c.3441+16556T>G (n.3441+16556T>G) c.*305A>C (n.*305A>C) c.1480A>C (p.Thr494Pro) c.276+16556T>G (n.276+16556T>G) c.*220+5988A>C (n.*220+5988A>C) c.604A>C (p.Thr202Pro) c.631A>C (p.Thr211Pro) c.1486A>C (p.Thr496Pro) c.1300A>C (p.Thr434Pro) c.1219A>C (p.Thr407Pro) c.925A>C (p.Thr309Pro) c.1306A>C (p.Thr436Pro) | gnomAD v3 gnomAD v4 |
2 | g.48688237T>A | CA346746234 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1560A>T (p.Glu520Asp) c.948-98A>T (n.948-98A>T) c.3441+16557T>A (n.3441+16557T>A) c.*304A>T (n.*304A>T) c.1479A>T (p.Glu493Asp) c.276+16557T>A (n.276+16557T>A) c.*220+5987A>T (n.*220+5987A>T) c.603A>T (p.Glu201Asp) c.630A>T (p.Glu210Asp) c.1485A>T (p.Glu495Asp) c.1299A>T (p.Glu433Asp) c.1218A>T (p.Glu406Asp) c.924A>T (p.Glu308Asp) c.1305A>T (p.Glu435Asp) | |
2 | g.48688237T>C | CA426125421 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1560A>G (p.Glu520=) c.948-98A>G (n.948-98A>G) c.3441+16557T>C (n.3441+16557T>C) c.*304A>G (n.*304A>G) c.1479A>G (p.Glu493=) c.276+16557T>C (n.276+16557T>C) c.*220+5987A>G (n.*220+5987A>G) c.603A>G (p.Glu201=) c.630A>G (p.Glu210=) c.1485A>G (p.Glu495=) c.1299A>G (p.Glu433=) c.1218A>G (p.Glu406=) c.924A>G (p.Glu308=) c.1305A>G (p.Glu435=) | |
2 | g.48688237T>G | CA346746231 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1560A>C (p.Glu520Asp) c.948-98A>C (n.948-98A>C) c.3441+16557T>G (n.3441+16557T>G) c.*304A>C (n.*304A>C) c.1479A>C (p.Glu493Asp) c.276+16557T>G (n.276+16557T>G) c.*220+5987A>C (n.*220+5987A>C) c.603A>C (p.Glu201Asp) c.630A>C (p.Glu210Asp) c.1485A>C (p.Glu495Asp) c.1299A>C (p.Glu433Asp) c.1218A>C (p.Glu406Asp) c.924A>C (p.Glu308Asp) c.1305A>C (p.Glu435Asp) | gnomAD v4 |
2 | g.48688238T>A | CA346746238 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1559A>T (p.Glu520Val) c.948-99A>T (n.948-99A>T) c.3441+16558T>A (n.3441+16558T>A) c.*303A>T (n.*303A>T) c.1478A>T (p.Glu493Val) c.276+16558T>A (n.276+16558T>A) c.*220+5986A>T (n.*220+5986A>T) c.602A>T (p.Glu201Val) c.629A>T (p.Glu210Val) c.1484A>T (p.Glu495Val) c.1298A>T (p.Glu433Val) c.1217A>T (p.Glu406Val) c.923A>T (p.Glu308Val) c.1304A>T (p.Glu435Val) | |
2 | g.48688238T>C | CA346746241 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1559A>G (p.Glu520Gly) c.948-99A>G (n.948-99A>G) c.3441+16558T>C (n.3441+16558T>C) c.*303A>G (n.*303A>G) c.1478A>G (p.Glu493Gly) c.276+16558T>C (n.276+16558T>C) c.*220+5986A>G (n.*220+5986A>G) c.602A>G (p.Glu201Gly) c.629A>G (p.Glu210Gly) c.1484A>G (p.Glu495Gly) c.1298A>G (p.Glu433Gly) c.1217A>G (p.Glu406Gly) c.923A>G (p.Glu308Gly) c.1304A>G (p.Glu435Gly) | |
2 | g.48688238T>G | CA346746244 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1559A>C (p.Glu520Ala) c.948-99A>C (n.948-99A>C) c.3441+16558T>G (n.3441+16558T>G) c.*303A>C (n.*303A>C) c.1478A>C (p.Glu493Ala) c.276+16558T>G (n.276+16558T>G) c.*220+5986A>C (n.*220+5986A>C) c.602A>C (p.Glu201Ala) c.629A>C (p.Glu210Ala) c.1484A>C (p.Glu495Ala) c.1298A>C (p.Glu433Ala) c.1217A>C (p.Glu406Ala) c.923A>C (p.Glu308Ala) c.1304A>C (p.Glu435Ala) | |
2 | g.48688239C>A | CA346746248 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1558G>T (p.Glu520Ter) c.948-100G>T (n.948-100G>T) c.3441+16559C>A (n.3441+16559C>A) c.*302G>T (n.*302G>T) c.1477G>T (p.Glu493Ter) c.276+16559C>A (n.276+16559C>A) c.*220+5985G>T (n.*220+5985G>T) c.601G>T (p.Glu201Ter) c.628G>T (p.Glu210Ter) c.1483G>T (p.Glu495Ter) c.1297G>T (p.Glu433Ter) c.1216G>T (p.Glu406Ter) c.922G>T (p.Glu308Ter) c.1303G>T (p.Glu435Ter) | |
2 | g.48688239C>G | CA346746251 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1558G>C (p.Glu520Gln) c.948-100G>C (n.948-100G>C) c.3441+16559C>G (n.3441+16559C>G) c.*302G>C (n.*302G>C) c.1477G>C (p.Glu493Gln) c.276+16559C>G (n.276+16559C>G) c.*220+5985G>C (n.*220+5985G>C) c.601G>C (p.Glu201Gln) c.628G>C (p.Glu210Gln) c.1483G>C (p.Glu495Gln) c.1297G>C (p.Glu433Gln) c.1216G>C (p.Glu406Gln) c.922G>C (p.Glu308Gln) c.1303G>C (p.Glu435Gln) | gnomAD v4 |
2 | g.48688239C>T | CA346746252 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1558G>A (p.Glu520Lys) c.948-100G>A (n.948-100G>A) c.3441+16559C>T (n.3441+16559C>T) c.*302G>A (n.*302G>A) c.1477G>A (p.Glu493Lys) c.276+16559C>T (n.276+16559C>T) c.*220+5985G>A (n.*220+5985G>A) c.601G>A (p.Glu201Lys) c.628G>A (p.Glu210Lys) c.1483G>A (p.Glu495Lys) c.1297G>A (p.Glu433Lys) c.1216G>A (p.Glu406Lys) c.922G>A (p.Glu308Lys) c.1303G>A (p.Glu435Lys) | |
2 | g.48688240C>A | CA426125431 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1557G>T (p.Val519=) c.948-101G>T (n.948-101G>T) c.3441+16560C>A (n.3441+16560C>A) c.*301G>T (n.*301G>T) c.1476G>T (p.Val492=) c.276+16560C>A (n.276+16560C>A) c.*220+5984G>T (n.*220+5984G>T) c.600G>T (p.Val200=) c.627G>T (p.Val209=) c.1482G>T (p.Val494=) c.1296G>T (p.Val432=) c.1215G>T (p.Val405=) c.921G>T (p.Val307=) c.1302G>T (p.Val434=) | |
2 | g.48688240C= | CA1248601045 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1557G= (p.Val519=) c.948-101G= (n.948-101G=) c.3441+16560C= (n.3441+16560C=) c.*301G= (n.*301G=) c.1476G= (p.Val492=) c.276+16560C= (n.276+16560C=) c.*220+5984G= (n.*220+5984G=) c.600G= (p.Val200=) c.627G= (p.Val209=) c.1482G= (p.Val494=) c.1296G= (p.Val432=) c.1215G= (p.Val405=) c.921G= (p.Val307=) c.1302G= (p.Val434=) | |
2 | g.48688240C>G | CA426125432 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1557G>C (p.Val519=) c.948-101G>C (n.948-101G>C) c.3441+16560C>G (n.3441+16560C>G) c.*301G>C (n.*301G>C) c.1476G>C (p.Val492=) c.276+16560C>G (n.276+16560C>G) c.*220+5984G>C (n.*220+5984G>C) c.600G>C (p.Val200=) c.627G>C (p.Val209=) c.1482G>C (p.Val494=) c.1296G>C (p.Val432=) c.1215G>C (p.Val405=) c.921G>C (p.Val307=) c.1302G>C (p.Val434=) | |
2 | g.48688240C>T | CA46752909 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1557G>A (p.Val519=) c.948-101G>A (n.948-101G>A) c.3441+16560C>T (n.3441+16560C>T) c.*301G>A (n.*301G>A) c.1476G>A (p.Val492=) c.276+16560C>T (n.276+16560C>T) c.*220+5984G>A (n.*220+5984G>A) c.600G>A (p.Val200=) c.627G>A (p.Val209=) c.1482G>A (p.Val494=) c.1296G>A (p.Val432=) c.1215G>A (p.Val405=) c.921G>A (p.Val307=) c.1302G>A (p.Val434=) | dbSNP |
2 | g.48688241A= | CA1248601046 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1556T= (p.Val519=) c.948-102T= (n.948-102T=) c.3441+16561A= (n.3441+16561A=) c.*300T= (n.*300T=) c.1475T= (p.Val492=) c.276+16561A= (n.276+16561A=) c.*220+5983T= (n.*220+5983T=) c.599T= (p.Val200=) c.626T= (p.Val209=) c.1481T= (p.Val494=) c.1295T= (p.Val432=) c.1214T= (p.Val405=) c.920T= (p.Val307=) c.1301T= (p.Val434=) | |
2 | g.48688241A>C | CA346746270 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1556T>G (p.Val519Gly) c.948-102T>G (n.948-102T>G) c.3441+16561A>C (n.3441+16561A>C) c.*300T>G (n.*300T>G) c.1475T>G (p.Val492Gly) c.276+16561A>C (n.276+16561A>C) c.*220+5983T>G (n.*220+5983T>G) c.599T>G (p.Val200Gly) c.626T>G (p.Val209Gly) c.1481T>G (p.Val494Gly) c.1295T>G (p.Val432Gly) c.1214T>G (p.Val405Gly) c.920T>G (p.Val307Gly) c.1301T>G (p.Val434Gly) | |
2 | g.48688241A>G | CA346746276 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1556T>C (p.Val519Ala) c.948-102T>C (n.948-102T>C) c.3441+16561A>G (n.3441+16561A>G) c.*300T>C (n.*300T>C) c.1475T>C (p.Val492Ala) c.276+16561A>G (n.276+16561A>G) c.*220+5983T>C (n.*220+5983T>C) c.599T>C (p.Val200Ala) c.626T>C (p.Val209Ala) c.1481T>C (p.Val494Ala) c.1295T>C (p.Val432Ala) c.1214T>C (p.Val405Ala) c.920T>C (p.Val307Ala) c.1301T>C (p.Val434Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688241A>T | CA346746279 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1556T>A (p.Val519Glu) c.948-102T>A (n.948-102T>A) c.3441+16561A>T (n.3441+16561A>T) c.*300T>A (n.*300T>A) c.1475T>A (p.Val492Glu) c.276+16561A>T (n.276+16561A>T) c.*220+5983T>A (n.*220+5983T>A) c.599T>A (p.Val200Glu) c.626T>A (p.Val209Glu) c.1481T>A (p.Val494Glu) c.1295T>A (p.Val432Glu) c.1214T>A (p.Val405Glu) c.920T>A (p.Val307Glu) c.1301T>A (p.Val434Glu) | |
2 | g.48688242C>A | CA346746282 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1555G>T (p.Val519Leu) c.948-103G>T (n.948-103G>T) c.3441+16562C>A (n.3441+16562C>A) c.*299G>T (n.*299G>T) c.1474G>T (p.Val492Leu) c.276+16562C>A (n.276+16562C>A) c.*220+5982G>T (n.*220+5982G>T) c.598G>T (p.Val200Leu) c.625G>T (p.Val209Leu) c.1480G>T (p.Val494Leu) c.1294G>T (p.Val432Leu) c.1213G>T (p.Val405Leu) c.919G>T (p.Val307Leu) c.1300G>T (p.Val434Leu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48688242C= | CA1248601047 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1555G= (p.Val519=) c.948-103G= (n.948-103G=) c.3441+16562C= (n.3441+16562C=) c.*299G= (n.*299G=) c.1474G= (p.Val492=) c.276+16562C= (n.276+16562C=) c.*220+5982G= (n.*220+5982G=) c.598G= (p.Val200=) c.625G= (p.Val209=) c.1480G= (p.Val494=) c.1294G= (p.Val432=) c.1213G= (p.Val405=) c.919G= (p.Val307=) c.1300G= (p.Val434=) | |
2 | g.48688242C>G | CA346746284 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1555G>C (p.Val519Leu) c.948-103G>C (n.948-103G>C) c.3441+16562C>G (n.3441+16562C>G) c.*299G>C (n.*299G>C) c.1474G>C (p.Val492Leu) c.276+16562C>G (n.276+16562C>G) c.*220+5982G>C (n.*220+5982G>C) c.598G>C (p.Val200Leu) c.625G>C (p.Val209Leu) c.1480G>C (p.Val494Leu) c.1294G>C (p.Val432Leu) c.1213G>C (p.Val405Leu) c.919G>C (p.Val307Leu) c.1300G>C (p.Val434Leu) | |
2 | g.48688242C>T | CA346746287 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1555G>A (p.Val519Met) c.948-103G>A (n.948-103G>A) c.3441+16562C>T (n.3441+16562C>T) c.*299G>A (n.*299G>A) c.1474G>A (p.Val492Met) c.276+16562C>T (n.276+16562C>T) c.*220+5982G>A (n.*220+5982G>A) c.598G>A (p.Val200Met) c.625G>A (p.Val209Met) c.1480G>A (p.Val494Met) c.1294G>A (p.Val432Met) c.1213G>A (p.Val405Met) c.919G>A (p.Val307Met) c.1300G>A (p.Val434Met) | |
2 | g.48688243A>C | CA346746296 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1554T>G (p.Asp518Glu) c.948-104T>G (n.948-104T>G) c.3441+16563A>C (n.3441+16563A>C) c.*298T>G (n.*298T>G) c.1473T>G (p.Asp491Glu) c.276+16563A>C (n.276+16563A>C) c.*220+5981T>G (n.*220+5981T>G) c.597T>G (p.Asp199Glu) c.624T>G (p.Asp208Glu) c.1479T>G (p.Asp493Glu) c.1293T>G (p.Asp431Glu) c.1212T>G (p.Asp404Glu) c.918T>G (p.Asp306Glu) c.1299T>G (p.Asp433Glu) | |
2 | g.48688243A>G | CA426125437 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1554T>C (p.Asp518=) c.948-104T>C (n.948-104T>C) c.3441+16563A>G (n.3441+16563A>G) c.*298T>C (n.*298T>C) c.1473T>C (p.Asp491=) c.276+16563A>G (n.276+16563A>G) c.*220+5981T>C (n.*220+5981T>C) c.597T>C (p.Asp199=) c.624T>C (p.Asp208=) c.1479T>C (p.Asp493=) c.1293T>C (p.Asp431=) c.1212T>C (p.Asp404=) c.918T>C (p.Asp306=) c.1299T>C (p.Asp433=) | |
2 | g.48688243A>T | CA346746290 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1554T>A (p.Asp518Glu) c.948-104T>A (n.948-104T>A) c.3441+16563A>T (n.3441+16563A>T) c.*298T>A (n.*298T>A) c.1473T>A (p.Asp491Glu) c.276+16563A>T (n.276+16563A>T) c.*220+5981T>A (n.*220+5981T>A) c.597T>A (p.Asp199Glu) c.624T>A (p.Asp208Glu) c.1479T>A (p.Asp493Glu) c.1293T>A (p.Asp431Glu) c.1212T>A (p.Asp404Glu) c.918T>A (p.Asp306Glu) c.1299T>A (p.Asp433Glu) | |
2 | g.48688244T>A | CA46752910 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1553A>T (p.Asp518Val) c.948-105A>T (n.948-105A>T) c.3441+16564T>A (n.3441+16564T>A) c.*297A>T (n.*297A>T) c.1472A>T (p.Asp491Val) c.276+16564T>A (n.276+16564T>A) c.*220+5980A>T (n.*220+5980A>T) c.596A>T (p.Asp199Val) c.623A>T (p.Asp208Val) c.1478A>T (p.Asp493Val) c.1292A>T (p.Asp431Val) c.1211A>T (p.Asp404Val) c.917A>T (p.Asp306Val) c.1298A>T (p.Asp433Val) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48688244T>C | CA346746302 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1553A>G (p.Asp518Gly) c.948-105A>G (n.948-105A>G) c.3441+16564T>C (n.3441+16564T>C) c.*297A>G (n.*297A>G) c.1472A>G (p.Asp491Gly) c.276+16564T>C (n.276+16564T>C) c.*220+5980A>G (n.*220+5980A>G) c.596A>G (p.Asp199Gly) c.623A>G (p.Asp208Gly) c.1478A>G (p.Asp493Gly) c.1292A>G (p.Asp431Gly) c.1211A>G (p.Asp404Gly) c.917A>G (p.Asp306Gly) c.1298A>G (p.Asp433Gly) | |
2 | g.48688244T>G | CA346746316 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1553A>C (p.Asp518Ala) c.948-105A>C (n.948-105A>C) c.3441+16564T>G (n.3441+16564T>G) c.*297A>C (n.*297A>C) c.1472A>C (p.Asp491Ala) c.276+16564T>G (n.276+16564T>G) c.*220+5980A>C (n.*220+5980A>C) c.596A>C (p.Asp199Ala) c.623A>C (p.Asp208Ala) c.1478A>C (p.Asp493Ala) c.1292A>C (p.Asp431Ala) c.1211A>C (p.Asp404Ala) c.917A>C (p.Asp306Ala) c.1298A>C (p.Asp433Ala) | |
2 | g.48688244T= | CA1248601048 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1553A= (p.Asp518=) c.948-105A= (n.948-105A=) c.3441+16564T= (n.3441+16564T=) c.*297A= (n.*297A=) c.1472A= (p.Asp491=) c.276+16564T= (n.276+16564T=) c.*220+5980A= (n.*220+5980A=) c.596A= (p.Asp199=) c.623A= (p.Asp208=) c.1478A= (p.Asp493=) c.1292A= (p.Asp431=) c.1211A= (p.Asp404=) c.917A= (p.Asp306=) c.1298A= (p.Asp433=) | |
2 | g.48688245C>A | CA346746319 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1552G>T (p.Asp518Tyr) c.948-106G>T (n.948-106G>T) c.3441+16565C>A (n.3441+16565C>A) c.*296G>T (n.*296G>T) c.1471G>T (p.Asp491Tyr) c.276+16565C>A (n.276+16565C>A) c.*220+5979G>T (n.*220+5979G>T) c.595G>T (p.Asp199Tyr) c.622G>T (p.Asp208Tyr) c.1477G>T (p.Asp493Tyr) c.1291G>T (p.Asp431Tyr) c.1210G>T (p.Asp404Tyr) c.916G>T (p.Asp306Tyr) c.1297G>T (p.Asp433Tyr) | |
2 | g.48688245C>G | CA346746322 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1552G>C (p.Asp518His) c.948-106G>C (n.948-106G>C) c.3441+16565C>G (n.3441+16565C>G) c.*296G>C (n.*296G>C) c.1471G>C (p.Asp491His) c.276+16565C>G (n.276+16565C>G) c.*220+5979G>C (n.*220+5979G>C) c.595G>C (p.Asp199His) c.622G>C (p.Asp208His) c.1477G>C (p.Asp493His) c.1291G>C (p.Asp431His) c.1210G>C (p.Asp404His) c.916G>C (p.Asp306His) c.1297G>C (p.Asp433His) | |
2 | g.48688245C>T | CA346746325 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1552G>A (p.Asp518Asn) c.948-106G>A (n.948-106G>A) c.3441+16565C>T (n.3441+16565C>T) c.*296G>A (n.*296G>A) c.1471G>A (p.Asp491Asn) c.276+16565C>T (n.276+16565C>T) c.*220+5979G>A (n.*220+5979G>A) c.595G>A (p.Asp199Asn) c.622G>A (p.Asp208Asn) c.1477G>A (p.Asp493Asn) c.1291G>A (p.Asp431Asn) c.1210G>A (p.Asp404Asn) c.916G>A (p.Asp306Asn) c.1297G>A (p.Asp433Asn) | |
2 | g.48688246C>A | CA346746327 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1551G>T (p.Met517Ile) c.948-107G>T (n.948-107G>T) c.3441+16566C>A (n.3441+16566C>A) c.*295G>T (n.*295G>T) c.1470G>T (p.Met490Ile) c.276+16566C>A (n.276+16566C>A) c.*220+5978G>T (n.*220+5978G>T) c.594G>T (p.Met198Ile) c.621G>T (p.Met207Ile) c.1476G>T (p.Met492Ile) c.1290G>T (p.Met430Ile) c.1209G>T (p.Met403Ile) c.915G>T (p.Met305Ile) c.1296G>T (p.Met432Ile) | |
2 | g.48688246C>G | CA346746329 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1551G>C (p.Met517Ile) c.948-107G>C (n.948-107G>C) c.3441+16566C>G (n.3441+16566C>G) c.*295G>C (n.*295G>C) c.1470G>C (p.Met490Ile) c.276+16566C>G (n.276+16566C>G) c.*220+5978G>C (n.*220+5978G>C) c.594G>C (p.Met198Ile) c.621G>C (p.Met207Ile) c.1476G>C (p.Met492Ile) c.1290G>C (p.Met430Ile) c.1209G>C (p.Met403Ile) c.915G>C (p.Met305Ile) c.1296G>C (p.Met432Ile) | |
2 | g.48688246C>T | CA346746336 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1551G>A (p.Met517Ile) c.948-107G>A (n.948-107G>A) c.3441+16566C>T (n.3441+16566C>T) c.*295G>A (n.*295G>A) c.1470G>A (p.Met490Ile) c.276+16566C>T (n.276+16566C>T) c.*220+5978G>A (n.*220+5978G>A) c.594G>A (p.Met198Ile) c.621G>A (p.Met207Ile) c.1476G>A (p.Met492Ile) c.1290G>A (p.Met430Ile) c.1209G>A (p.Met403Ile) c.915G>A (p.Met305Ile) c.1296G>A (p.Met432Ile) | gnomAD v4 |
2 | g.48688247A= | CA1248601049 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1550T= (p.Met517=) c.948-108T= (n.948-108T=) c.3441+16567A= (n.3441+16567A=) c.*294T= (n.*294T=) c.1469T= (p.Met490=) c.276+16567A= (n.276+16567A=) c.*220+5977T= (n.*220+5977T=) c.593T= (p.Met198=) c.620T= (p.Met207=) c.1475T= (p.Met492=) c.1289T= (p.Met430=) c.1208T= (p.Met403=) c.914T= (p.Met305=) c.1295T= (p.Met432=) | |
2 | g.48688247A>C | CA346746339 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1550T>G (p.Met517Arg) c.948-108T>G (n.948-108T>G) c.3441+16567A>C (n.3441+16567A>C) c.*294T>G (n.*294T>G) c.1469T>G (p.Met490Arg) c.276+16567A>C (n.276+16567A>C) c.*220+5977T>G (n.*220+5977T>G) c.593T>G (p.Met198Arg) c.620T>G (p.Met207Arg) c.1475T>G (p.Met492Arg) c.1289T>G (p.Met430Arg) c.1208T>G (p.Met403Arg) c.914T>G (p.Met305Arg) c.1295T>G (p.Met432Arg) | |
2 | g.48688247A>G | CA346746342 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1550T>C (p.Met517Thr) c.948-108T>C (n.948-108T>C) c.3441+16567A>G (n.3441+16567A>G) c.*294T>C (n.*294T>C) c.1469T>C (p.Met490Thr) c.276+16567A>G (n.276+16567A>G) c.*220+5977T>C (n.*220+5977T>C) c.593T>C (p.Met198Thr) c.620T>C (p.Met207Thr) c.1475T>C (p.Met492Thr) c.1289T>C (p.Met430Thr) c.1208T>C (p.Met403Thr) c.914T>C (p.Met305Thr) c.1295T>C (p.Met432Thr) | dbSNP |
2 | g.48688247A>T | CA346746343 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1550T>A (p.Met517Lys) c.948-108T>A (n.948-108T>A) c.3441+16567A>T (n.3441+16567A>T) c.*294T>A (n.*294T>A) c.1469T>A (p.Met490Lys) c.276+16567A>T (n.276+16567A>T) c.*220+5977T>A (n.*220+5977T>A) c.593T>A (p.Met198Lys) c.620T>A (p.Met207Lys) c.1475T>A (p.Met492Lys) c.1289T>A (p.Met430Lys) c.1208T>A (p.Met403Lys) c.914T>A (p.Met305Lys) c.1295T>A (p.Met432Lys) | |
2 | g.48688248T>A | CA346746349 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1549A>T (p.Met517Leu) c.948-109A>T (n.948-109A>T) c.3441+16568T>A (n.3441+16568T>A) c.*293A>T (n.*293A>T) c.1468A>T (p.Met490Leu) c.276+16568T>A (n.276+16568T>A) c.*220+5976A>T (n.*220+5976A>T) c.592A>T (p.Met198Leu) c.619A>T (p.Met207Leu) c.1474A>T (p.Met492Leu) c.1288A>T (p.Met430Leu) c.1207A>T (p.Met403Leu) c.913A>T (p.Met305Leu) c.1294A>T (p.Met432Leu) | |
2 | g.48688248T>C | CA346746352 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1549A>G (p.Met517Val) c.948-109A>G (n.948-109A>G) c.3441+16568T>C (n.3441+16568T>C) c.*293A>G (n.*293A>G) c.1468A>G (p.Met490Val) c.276+16568T>C (n.276+16568T>C) c.*220+5976A>G (n.*220+5976A>G) c.592A>G (p.Met198Val) c.619A>G (p.Met207Val) c.1474A>G (p.Met492Val) c.1288A>G (p.Met430Val) c.1207A>G (p.Met403Val) c.913A>G (p.Met305Val) c.1294A>G (p.Met432Val) | gnomAD v4 |
2 | g.48688248T>G | CA346746347 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1549A>C (p.Met517Leu) c.948-109A>C (n.948-109A>C) c.3441+16568T>G (n.3441+16568T>G) c.*293A>C (n.*293A>C) c.1468A>C (p.Met490Leu) c.276+16568T>G (n.276+16568T>G) c.*220+5976A>C (n.*220+5976A>C) c.592A>C (p.Met198Leu) c.619A>C (p.Met207Leu) c.1474A>C (p.Met492Leu) c.1288A>C (p.Met430Leu) c.1207A>C (p.Met403Leu) c.913A>C (p.Met305Leu) c.1294A>C (p.Met432Leu) | |
2 | g.48688249G>A | CA426125452 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1548C>T (p.Pro516=) c.948-110C>T (n.948-110C>T) c.3441+16569G>A (n.3441+16569G>A) c.*292C>T (n.*292C>T) c.1467C>T (p.Pro489=) c.276+16569G>A (n.276+16569G>A) c.*220+5975C>T (n.*220+5975C>T) c.591C>T (p.Pro197=) c.618C>T (p.Pro206=) c.1473C>T (p.Pro491=) c.1287C>T (p.Pro429=) c.1206C>T (p.Pro402=) c.912C>T (p.Pro304=) c.1293C>T (p.Pro431=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688249G>C | CA426125461 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1548C>G (p.Pro516=) c.948-110C>G (n.948-110C>G) c.3441+16569G>C (n.3441+16569G>C) c.*292C>G (n.*292C>G) c.1467C>G (p.Pro489=) c.276+16569G>C (n.276+16569G>C) c.*220+5975C>G (n.*220+5975C>G) c.591C>G (p.Pro197=) c.618C>G (p.Pro206=) c.1473C>G (p.Pro491=) c.1287C>G (p.Pro429=) c.1206C>G (p.Pro402=) c.912C>G (p.Pro304=) c.1293C>G (p.Pro431=) | |
2 | g.48688249G= | CA1248601050 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1548C= (p.Pro516=) c.948-110C= (n.948-110C=) c.3441+16569G= (n.3441+16569G=) c.*292C= (n.*292C=) c.1467C= (p.Pro489=) c.276+16569G= (n.276+16569G=) c.*220+5975C= (n.*220+5975C=) c.591C= (p.Pro197=) c.618C= (p.Pro206=) c.1473C= (p.Pro491=) c.1287C= (p.Pro429=) c.1206C= (p.Pro402=) c.912C= (p.Pro304=) c.1293C= (p.Pro431=) | |
2 | g.48688249G>T | CA426125454 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1548C>A (p.Pro516=) c.948-110C>A (n.948-110C>A) c.3441+16569G>T (n.3441+16569G>T) c.*292C>A (n.*292C>A) c.1467C>A (p.Pro489=) c.276+16569G>T (n.276+16569G>T) c.*220+5975C>A (n.*220+5975C>A) c.591C>A (p.Pro197=) c.618C>A (p.Pro206=) c.1473C>A (p.Pro491=) c.1287C>A (p.Pro429=) c.1206C>A (p.Pro402=) c.912C>A (p.Pro304=) c.1293C>A (p.Pro431=) | |
2 | g.48688250G>A | CA346746356 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1547C>T (p.Pro516Leu) c.948-111C>T (n.948-111C>T) c.3441+16570G>A (n.3441+16570G>A) c.*291C>T (n.*291C>T) c.1466C>T (p.Pro489Leu) c.276+16570G>A (n.276+16570G>A) c.*220+5974C>T (n.*220+5974C>T) c.590C>T (p.Pro197Leu) c.617C>T (p.Pro206Leu) c.1472C>T (p.Pro491Leu) c.1286C>T (p.Pro429Leu) c.1205C>T (p.Pro402Leu) c.911C>T (p.Pro304Leu) c.1292C>T (p.Pro431Leu) | gnomAD v4 |
2 | g.48688250G>C | CA346746358 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1547C>G (p.Pro516Arg) c.948-111C>G (n.948-111C>G) c.3441+16570G>C (n.3441+16570G>C) c.*291C>G (n.*291C>G) c.1466C>G (p.Pro489Arg) c.276+16570G>C (n.276+16570G>C) c.*220+5974C>G (n.*220+5974C>G) c.590C>G (p.Pro197Arg) c.617C>G (p.Pro206Arg) c.1472C>G (p.Pro491Arg) c.1286C>G (p.Pro429Arg) c.1205C>G (p.Pro402Arg) c.911C>G (p.Pro304Arg) c.1292C>G (p.Pro431Arg) | gnomAD v4 |
2 | g.48688250G>T | CA346746360 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1547C>A (p.Pro516His) c.948-111C>A (n.948-111C>A) c.3441+16570G>T (n.3441+16570G>T) c.*291C>A (n.*291C>A) c.1466C>A (p.Pro489His) c.276+16570G>T (n.276+16570G>T) c.*220+5974C>A (n.*220+5974C>A) c.590C>A (p.Pro197His) c.617C>A (p.Pro206His) c.1472C>A (p.Pro491His) c.1286C>A (p.Pro429His) c.1205C>A (p.Pro402His) c.911C>A (p.Pro304His) c.1292C>A (p.Pro431His) | |
2 | g.48688251G>A | CA346746362 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1546C>T (p.Pro516Ser) c.948-112C>T (n.948-112C>T) c.3441+16571G>A (n.3441+16571G>A) c.*290C>T (n.*290C>T) c.1465C>T (p.Pro489Ser) c.276+16571G>A (n.276+16571G>A) c.*220+5973C>T (n.*220+5973C>T) c.589C>T (p.Pro197Ser) c.616C>T (p.Pro206Ser) c.1471C>T (p.Pro491Ser) c.1285C>T (p.Pro429Ser) c.1204C>T (p.Pro402Ser) c.910C>T (p.Pro304Ser) c.1291C>T (p.Pro431Ser) | gnomAD v4 |
2 | g.48688251G>C | CA346746364 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1546C>G (p.Pro516Ala) c.948-112C>G (n.948-112C>G) c.3441+16571G>C (n.3441+16571G>C) c.*290C>G (n.*290C>G) c.1465C>G (p.Pro489Ala) c.276+16571G>C (n.276+16571G>C) c.*220+5973C>G (n.*220+5973C>G) c.589C>G (p.Pro197Ala) c.616C>G (p.Pro206Ala) c.1471C>G (p.Pro491Ala) c.1285C>G (p.Pro429Ala) c.1204C>G (p.Pro402Ala) c.910C>G (p.Pro304Ala) c.1291C>G (p.Pro431Ala) | |
2 | g.48688251G>T | CA346746367 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1546C>A (p.Pro516Thr) c.948-112C>A (n.948-112C>A) c.3441+16571G>T (n.3441+16571G>T) c.*290C>A (n.*290C>A) c.1465C>A (p.Pro489Thr) c.276+16571G>T (n.276+16571G>T) c.*220+5973C>A (n.*220+5973C>A) c.589C>A (p.Pro197Thr) c.616C>A (p.Pro206Thr) c.1471C>A (p.Pro491Thr) c.1285C>A (p.Pro429Thr) c.1204C>A (p.Pro402Thr) c.910C>A (p.Pro304Thr) c.1291C>A (p.Pro431Thr) | |
2 | g.48688252G>A | CA426125467 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1545C>T (p.Phe515=) c.948-113C>T (n.948-113C>T) c.3441+16572G>A (n.3441+16572G>A) c.*289C>T (n.*289C>T) c.1464C>T (p.Phe488=) c.276+16572G>A (n.276+16572G>A) c.*220+5972C>T (n.*220+5972C>T) c.588C>T (p.Phe196=) c.615C>T (p.Phe205=) c.1470C>T (p.Phe490=) c.1284C>T (p.Phe428=) c.1203C>T (p.Phe401=) c.909C>T (p.Phe303=) c.1290C>T (p.Phe430=) | |
2 | g.48688252G>C | CA346746371 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1545C>G (p.Phe515Leu) c.948-113C>G (n.948-113C>G) c.3441+16572G>C (n.3441+16572G>C) c.*289C>G (n.*289C>G) c.1464C>G (p.Phe488Leu) c.276+16572G>C (n.276+16572G>C) c.*220+5972C>G (n.*220+5972C>G) c.588C>G (p.Phe196Leu) c.615C>G (p.Phe205Leu) c.1470C>G (p.Phe490Leu) c.1284C>G (p.Phe428Leu) c.1203C>G (p.Phe401Leu) c.909C>G (p.Phe303Leu) c.1290C>G (p.Phe430Leu) | |
2 | g.48688252G>T | CA346746372 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1545C>A (p.Phe515Leu) c.948-113C>A (n.948-113C>A) c.3441+16572G>T (n.3441+16572G>T) c.*289C>A (n.*289C>A) c.1464C>A (p.Phe488Leu) c.276+16572G>T (n.276+16572G>T) c.*220+5972C>A (n.*220+5972C>A) c.588C>A (p.Phe196Leu) c.615C>A (p.Phe205Leu) c.1470C>A (p.Phe490Leu) c.1284C>A (p.Phe428Leu) c.1203C>A (p.Phe401Leu) c.909C>A (p.Phe303Leu) c.1290C>A (p.Phe430Leu) | |
2 | g.48688253A>C | CA346746375 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1544T>G (p.Phe515Cys) c.948-114T>G (n.948-114T>G) c.3441+16573A>C (n.3441+16573A>C) c.*288T>G (n.*288T>G) c.1463T>G (p.Phe488Cys) c.276+16573A>C (n.276+16573A>C) c.*220+5971T>G (n.*220+5971T>G) c.587T>G (p.Phe196Cys) c.614T>G (p.Phe205Cys) c.1469T>G (p.Phe490Cys) c.1283T>G (p.Phe428Cys) c.1202T>G (p.Phe401Cys) c.908T>G (p.Phe303Cys) c.1289T>G (p.Phe430Cys) | |
2 | g.48688253A>G | CA346746376 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1544T>C (p.Phe515Ser) c.948-114T>C (n.948-114T>C) c.3441+16573A>G (n.3441+16573A>G) c.*288T>C (n.*288T>C) c.1463T>C (p.Phe488Ser) c.276+16573A>G (n.276+16573A>G) c.*220+5971T>C (n.*220+5971T>C) c.587T>C (p.Phe196Ser) c.614T>C (p.Phe205Ser) c.1469T>C (p.Phe490Ser) c.1283T>C (p.Phe428Ser) c.1202T>C (p.Phe401Ser) c.908T>C (p.Phe303Ser) c.1289T>C (p.Phe430Ser) | gnomAD v4 |
2 | g.48688253A>T | CA346746377 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1544T>A (p.Phe515Tyr) c.948-114T>A (n.948-114T>A) c.3441+16573A>T (n.3441+16573A>T) c.*288T>A (n.*288T>A) c.1463T>A (p.Phe488Tyr) c.276+16573A>T (n.276+16573A>T) c.*220+5971T>A (n.*220+5971T>A) c.587T>A (p.Phe196Tyr) c.614T>A (p.Phe205Tyr) c.1469T>A (p.Phe490Tyr) c.1283T>A (p.Phe428Tyr) c.1202T>A (p.Phe401Tyr) c.908T>A (p.Phe303Tyr) c.1289T>A (p.Phe430Tyr) | gnomAD v4 |
2 | g.48688254A>C | CA346746379 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1543T>G (p.Phe515Val) c.948-115T>G (n.948-115T>G) c.3441+16574A>C (n.3441+16574A>C) c.*287T>G (n.*287T>G) c.1462T>G (p.Phe488Val) c.276+16574A>C (n.276+16574A>C) c.*220+5970T>G (n.*220+5970T>G) c.586T>G (p.Phe196Val) c.613T>G (p.Phe205Val) c.1468T>G (p.Phe490Val) c.1282T>G (p.Phe428Val) c.1201T>G (p.Phe401Val) c.907T>G (p.Phe303Val) c.1288T>G (p.Phe430Val) | |
2 | g.48688254A>G | CA346746380 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1543T>C (p.Phe515Leu) c.948-115T>C (n.948-115T>C) c.3441+16574A>G (n.3441+16574A>G) c.*287T>C (n.*287T>C) c.1462T>C (p.Phe488Leu) c.276+16574A>G (n.276+16574A>G) c.*220+5970T>C (n.*220+5970T>C) c.586T>C (p.Phe196Leu) c.613T>C (p.Phe205Leu) c.1468T>C (p.Phe490Leu) c.1282T>C (p.Phe428Leu) c.1201T>C (p.Phe401Leu) c.907T>C (p.Phe303Leu) c.1288T>C (p.Phe430Leu) | |
2 | g.48688254A>T | CA346746388 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1543T>A (p.Phe515Ile) c.948-115T>A (n.948-115T>A) c.3441+16574A>T (n.3441+16574A>T) c.*287T>A (n.*287T>A) c.1462T>A (p.Phe488Ile) c.276+16574A>T (n.276+16574A>T) c.*220+5970T>A (n.*220+5970T>A) c.586T>A (p.Phe196Ile) c.613T>A (p.Phe205Ile) c.1468T>A (p.Phe490Ile) c.1282T>A (p.Phe428Ile) c.1201T>A (p.Phe401Ile) c.907T>A (p.Phe303Ile) c.1288T>A (p.Phe430Ile) | |
2 | g.48688255G>A | CA426125478 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1542C>T (p.Cys514=) c.948-116C>T (n.948-116C>T) c.3441+16575G>A (n.3441+16575G>A) c.*286C>T (n.*286C>T) c.1461C>T (p.Cys487=) c.276+16575G>A (n.276+16575G>A) c.*220+5969C>T (n.*220+5969C>T) c.585C>T (p.Cys195=) c.612C>T (p.Cys204=) c.1467C>T (p.Cys489=) c.1281C>T (p.Cys427=) c.1200C>T (p.Cys400=) c.906C>T (p.Cys302=) c.1287C>T (p.Cys429=) | dbSNP COSMIC |
2 | g.48688255G>C | CA346746395 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1542C>G (p.Cys514Trp) c.948-116C>G (n.948-116C>G) c.3441+16575G>C (n.3441+16575G>C) c.*286C>G (n.*286C>G) c.1461C>G (p.Cys487Trp) c.276+16575G>C (n.276+16575G>C) c.*220+5969C>G (n.*220+5969C>G) c.585C>G (p.Cys195Trp) c.612C>G (p.Cys204Trp) c.1467C>G (p.Cys489Trp) c.1281C>G (p.Cys427Trp) c.1200C>G (p.Cys400Trp) c.906C>G (p.Cys302Trp) c.1287C>G (p.Cys429Trp) | |
2 | g.48688255G= | CA1248601051 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1542C= (p.Cys514=) c.948-116C= (n.948-116C=) c.3441+16575G= (n.3441+16575G=) c.*286C= (n.*286C=) c.1461C= (p.Cys487=) c.276+16575G= (n.276+16575G=) c.*220+5969C= (n.*220+5969C=) c.585C= (p.Cys195=) c.612C= (p.Cys204=) c.1467C= (p.Cys489=) c.1281C= (p.Cys427=) c.1200C= (p.Cys400=) c.906C= (p.Cys302=) c.1287C= (p.Cys429=) | |
2 | g.48688255G>T | CA346746392 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1542C>A (p.Cys514Ter) c.948-116C>A (n.948-116C>A) c.3441+16575G>T (n.3441+16575G>T) c.*286C>A (n.*286C>A) c.1461C>A (p.Cys487Ter) c.276+16575G>T (n.276+16575G>T) c.*220+5969C>A (n.*220+5969C>A) c.585C>A (p.Cys195Ter) c.612C>A (p.Cys204Ter) c.1467C>A (p.Cys489Ter) c.1281C>A (p.Cys427Ter) c.1200C>A (p.Cys400Ter) c.906C>A (p.Cys302Ter) c.1287C>A (p.Cys429Ter) | |
2 | g.48688256C>A | CA346746402 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1541G>T (p.Cys514Phe) c.948-117G>T (n.948-117G>T) c.3441+16576C>A (n.3441+16576C>A) c.*285G>T (n.*285G>T) c.1460G>T (p.Cys487Phe) c.276+16576C>A (n.276+16576C>A) c.*220+5968G>T (n.*220+5968G>T) c.584G>T (p.Cys195Phe) c.611G>T (p.Cys204Phe) c.1466G>T (p.Cys489Phe) c.1280G>T (p.Cys427Phe) c.1199G>T (p.Cys400Phe) c.905G>T (p.Cys302Phe) c.1286G>T (p.Cys429Phe) | |
2 | g.48688256C>G | CA346746408 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1541G>C (p.Cys514Ser) c.948-117G>C (n.948-117G>C) c.3441+16576C>G (n.3441+16576C>G) c.*285G>C (n.*285G>C) c.1460G>C (p.Cys487Ser) c.276+16576C>G (n.276+16576C>G) c.*220+5968G>C (n.*220+5968G>C) c.584G>C (p.Cys195Ser) c.611G>C (p.Cys204Ser) c.1466G>C (p.Cys489Ser) c.1280G>C (p.Cys427Ser) c.1199G>C (p.Cys400Ser) c.905G>C (p.Cys302Ser) c.1286G>C (p.Cys429Ser) | gnomAD v4 |
2 | g.48688256C>T | CA346746404 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1541G>A (p.Cys514Tyr) c.948-117G>A (n.948-117G>A) c.3441+16576C>T (n.3441+16576C>T) c.*285G>A (n.*285G>A) c.1460G>A (p.Cys487Tyr) c.276+16576C>T (n.276+16576C>T) c.*220+5968G>A (n.*220+5968G>A) c.584G>A (p.Cys195Tyr) c.611G>A (p.Cys204Tyr) c.1466G>A (p.Cys489Tyr) c.1280G>A (p.Cys427Tyr) c.1199G>A (p.Cys400Tyr) c.905G>A (p.Cys302Tyr) c.1286G>A (p.Cys429Tyr) | |
2 | g.48688257A>C | CA346746412 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1540T>G (p.Cys514Gly) c.948-118T>G (n.948-118T>G) c.3441+16577A>C (n.3441+16577A>C) c.*284T>G (n.*284T>G) c.1459T>G (p.Cys487Gly) c.276+16577A>C (n.276+16577A>C) c.*220+5967T>G (n.*220+5967T>G) c.583T>G (p.Cys195Gly) c.610T>G (p.Cys204Gly) c.1465T>G (p.Cys489Gly) c.1279T>G (p.Cys427Gly) c.1198T>G (p.Cys400Gly) c.904T>G (p.Cys302Gly) c.1285T>G (p.Cys429Gly) | gnomAD v4 |
2 | g.48688257A>G | CA346746416 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1540T>C (p.Cys514Arg) c.948-118T>C (n.948-118T>C) c.3441+16577A>G (n.3441+16577A>G) c.*284T>C (n.*284T>C) c.1459T>C (p.Cys487Arg) c.276+16577A>G (n.276+16577A>G) c.*220+5967T>C (n.*220+5967T>C) c.583T>C (p.Cys195Arg) c.610T>C (p.Cys204Arg) c.1465T>C (p.Cys489Arg) c.1279T>C (p.Cys427Arg) c.1198T>C (p.Cys400Arg) c.904T>C (p.Cys302Arg) c.1285T>C (p.Cys429Arg) | |
2 | g.48688257A>T | CA346746418 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1540T>A (p.Cys514Ser) c.948-118T>A (n.948-118T>A) c.3441+16577A>T (n.3441+16577A>T) c.*284T>A (n.*284T>A) c.1459T>A (p.Cys487Ser) c.276+16577A>T (n.276+16577A>T) c.*220+5967T>A (n.*220+5967T>A) c.583T>A (p.Cys195Ser) c.610T>A (p.Cys204Ser) c.1465T>A (p.Cys489Ser) c.1279T>A (p.Cys427Ser) c.1198T>A (p.Cys400Ser) c.904T>A (p.Cys302Ser) c.1285T>A (p.Cys429Ser) | |
2 | g.48688258A>C | CA346746421 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1539T>G (p.Ile513Met) c.948-119T>G (n.948-119T>G) c.3441+16578A>C (n.3441+16578A>C) c.*283T>G (n.*283T>G) c.1458T>G (p.Ile486Met) c.276+16578A>C (n.276+16578A>C) c.*220+5966T>G (n.*220+5966T>G) c.582T>G (p.Ile194Met) c.609T>G (p.Ile203Met) c.1464T>G (p.Ile488Met) c.1278T>G (p.Ile426Met) c.1197T>G (p.Ile399Met) c.903T>G (p.Ile301Met) c.1284T>G (p.Ile428Met) | |
2 | g.48688258A>G | CA426125497 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1539T>C (p.Ile513=) c.948-119T>C (n.948-119T>C) c.3441+16578A>G (n.3441+16578A>G) c.*283T>C (n.*283T>C) c.1458T>C (p.Ile486=) c.276+16578A>G (n.276+16578A>G) c.*220+5966T>C (n.*220+5966T>C) c.582T>C (p.Ile194=) c.609T>C (p.Ile203=) c.1464T>C (p.Ile488=) c.1278T>C (p.Ile426=) c.1197T>C (p.Ile399=) c.903T>C (p.Ile301=) c.1284T>C (p.Ile428=) | |
2 | g.48688258A>T | CA426125492 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1539T>A (p.Ile513=) c.948-119T>A (n.948-119T>A) c.3441+16578A>T (n.3441+16578A>T) c.*283T>A (n.*283T>A) c.1458T>A (p.Ile486=) c.276+16578A>T (n.276+16578A>T) c.*220+5966T>A (n.*220+5966T>A) c.582T>A (p.Ile194=) c.609T>A (p.Ile203=) c.1464T>A (p.Ile488=) c.1278T>A (p.Ile426=) c.1197T>A (p.Ile399=) c.903T>A (p.Ile301=) c.1284T>A (p.Ile428=) | gnomAD v4 |
2 | g.48688258_48688259insT | CA2749836836 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1538_1539insA (p.Cys514LeufsTer?) c.948-120_948-119insA (n.948-120_948-119insA) c.3441+16578_3441+16579insT (n.3441+16578_3441+16579insT) c.*282_*283insA (n.*282_*283insA) c.1457_1458insA (p.Cys487LeufsTer?) c.276+16578_276+16579insT (n.276+16578_276+16579insT) c.*220+5965_*220+5966insA (n.*220+5965_*220+5966insA) c.581_582insA (p.Cys195LeufsTer?) c.608_609insA (p.Cys204LeufsTer?) c.1463_1464insA (p.Cys489LeufsTer?) c.1277_1278insA (p.Cys427LeufsTer?) c.1196_1197insA (p.Cys400LeufsTer?) c.902_903insA (p.Cys302LeufsTer?) c.1283_1284insA (p.Cys429LeufsTer?) | |
2 | g.48688259A>C | CA346746423 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1538T>G (p.Ile513Ser) c.948-120T>G (n.948-120T>G) c.3441+16579A>C (n.3441+16579A>C) c.*282T>G (n.*282T>G) c.1457T>G (p.Ile486Ser) c.276+16579A>C (n.276+16579A>C) c.*220+5965T>G (n.*220+5965T>G) c.581T>G (p.Ile194Ser) c.608T>G (p.Ile203Ser) c.1463T>G (p.Ile488Ser) c.1277T>G (p.Ile426Ser) c.1196T>G (p.Ile399Ser) c.902T>G (p.Ile301Ser) c.1283T>G (p.Ile428Ser) | |
2 | g.48688259A>G | CA346746424 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1538T>C (p.Ile513Thr) c.948-120T>C (n.948-120T>C) c.3441+16579A>G (n.3441+16579A>G) c.*282T>C (n.*282T>C) c.1457T>C (p.Ile486Thr) c.276+16579A>G (n.276+16579A>G) c.*220+5965T>C (n.*220+5965T>C) c.581T>C (p.Ile194Thr) c.608T>C (p.Ile203Thr) c.1463T>C (p.Ile488Thr) c.1277T>C (p.Ile426Thr) c.1196T>C (p.Ile399Thr) c.902T>C (p.Ile301Thr) c.1283T>C (p.Ile428Thr) | |
2 | g.48688259A>T | CA346746425 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1538T>A (p.Ile513Asn) c.948-120T>A (n.948-120T>A) c.3441+16579A>T (n.3441+16579A>T) c.*282T>A (n.*282T>A) c.1457T>A (p.Ile486Asn) c.276+16579A>T (n.276+16579A>T) c.*220+5965T>A (n.*220+5965T>A) c.581T>A (p.Ile194Asn) c.608T>A (p.Ile203Asn) c.1463T>A (p.Ile488Asn) c.1277T>A (p.Ile426Asn) c.1196T>A (p.Ile399Asn) c.902T>A (p.Ile301Asn) c.1283T>A (p.Ile428Asn) | gnomAD v4 |
2 | g.48688260T>A | CA346746426 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1537A>T (p.Ile513Phe) c.948-121A>T (n.948-121A>T) c.3441+16580T>A (n.3441+16580T>A) c.*281A>T (n.*281A>T) c.1456A>T (p.Ile486Phe) c.276+16580T>A (n.276+16580T>A) c.*220+5964A>T (n.*220+5964A>T) c.580A>T (p.Ile194Phe) c.607A>T (p.Ile203Phe) c.1462A>T (p.Ile488Phe) c.1276A>T (p.Ile426Phe) c.1195A>T (p.Ile399Phe) c.901A>T (p.Ile301Phe) c.1282A>T (p.Ile428Phe) | |
2 | g.48688260T>C | CA346746427 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1537A>G (p.Ile513Val) c.948-121A>G (n.948-121A>G) c.3441+16580T>C (n.3441+16580T>C) c.*281A>G (n.*281A>G) c.1456A>G (p.Ile486Val) c.276+16580T>C (n.276+16580T>C) c.*220+5964A>G (n.*220+5964A>G) c.580A>G (p.Ile194Val) c.607A>G (p.Ile203Val) c.1462A>G (p.Ile488Val) c.1276A>G (p.Ile426Val) c.1195A>G (p.Ile399Val) c.901A>G (p.Ile301Val) c.1282A>G (p.Ile428Val) | |
2 | g.48688260T>G | CA346746430 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1537A>C (p.Ile513Leu) c.948-121A>C (n.948-121A>C) c.3441+16580T>G (n.3441+16580T>G) c.*281A>C (n.*281A>C) c.1456A>C (p.Ile486Leu) c.276+16580T>G (n.276+16580T>G) c.*220+5964A>C (n.*220+5964A>C) c.580A>C (p.Ile194Leu) c.607A>C (p.Ile203Leu) c.1462A>C (p.Ile488Leu) c.1276A>C (p.Ile426Leu) c.1195A>C (p.Ile399Leu) c.901A>C (p.Ile301Leu) c.1282A>C (p.Ile428Leu) | |
2 | g.48688261A= | CA1248601052 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1536T= (p.Ser512=) c.948-122T= (n.948-122T=) c.3441+16581A= (n.3441+16581A=) c.*280T= (n.*280T=) c.1455T= (p.Ser485=) c.276+16581A= (n.276+16581A=) c.*220+5963T= (n.*220+5963T=) c.579T= (p.Ser193=) c.606T= (p.Ser202=) c.1461T= (p.Ser487=) c.1275T= (p.Ser425=) c.1194T= (p.Ser398=) c.900T= (p.Ser300=) c.1281T= (p.Ser427=) | |
2 | g.48688261A>C | CA346746432 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1536T>G (p.Ser512Arg) c.948-122T>G (n.948-122T>G) c.3441+16581A>C (n.3441+16581A>C) c.*280T>G (n.*280T>G) c.1455T>G (p.Ser485Arg) c.276+16581A>C (n.276+16581A>C) c.*220+5963T>G (n.*220+5963T>G) c.579T>G (p.Ser193Arg) c.606T>G (p.Ser202Arg) c.1461T>G (p.Ser487Arg) c.1275T>G (p.Ser425Arg) c.1194T>G (p.Ser398Arg) c.900T>G (p.Ser300Arg) c.1281T>G (p.Ser427Arg) | |
2 | g.48688261A>G | CA1653019 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1536T>C (p.Ser512=) c.948-122T>C (n.948-122T>C) c.3441+16581A>G (n.3441+16581A>G) c.*280T>C (n.*280T>C) c.1455T>C (p.Ser485=) c.276+16581A>G (n.276+16581A>G) c.*220+5963T>C (n.*220+5963T>C) c.579T>C (p.Ser193=) c.606T>C (p.Ser202=) c.1461T>C (p.Ser487=) c.1275T>C (p.Ser425=) c.1194T>C (p.Ser398=) c.900T>C (p.Ser300=) c.1281T>C (p.Ser427=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48688261A>T | CA346746435 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1536T>A (p.Ser512Arg) c.948-122T>A (n.948-122T>A) c.3441+16581A>T (n.3441+16581A>T) c.*280T>A (n.*280T>A) c.1455T>A (p.Ser485Arg) c.276+16581A>T (n.276+16581A>T) c.*220+5963T>A (n.*220+5963T>A) c.579T>A (p.Ser193Arg) c.606T>A (p.Ser202Arg) c.1461T>A (p.Ser487Arg) c.1275T>A (p.Ser425Arg) c.1194T>A (p.Ser398Arg) c.900T>A (p.Ser300Arg) c.1281T>A (p.Ser427Arg) | |
2 | g.48688262C>A | CA346746441 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1535G>T (p.Ser512Ile) c.948-123G>T (n.948-123G>T) c.3441+16582C>A (n.3441+16582C>A) c.*279G>T (n.*279G>T) c.1454G>T (p.Ser485Ile) c.276+16582C>A (n.276+16582C>A) c.*220+5962G>T (n.*220+5962G>T) c.578G>T (p.Ser193Ile) c.605G>T (p.Ser202Ile) c.1460G>T (p.Ser487Ile) c.1274G>T (p.Ser425Ile) c.1193G>T (p.Ser398Ile) c.899G>T (p.Ser300Ile) c.1280G>T (p.Ser427Ile) | |
2 | g.48688262C>G | CA346746437 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1535G>C (p.Ser512Thr) c.948-123G>C (n.948-123G>C) c.3441+16582C>G (n.3441+16582C>G) c.*279G>C (n.*279G>C) c.1454G>C (p.Ser485Thr) c.276+16582C>G (n.276+16582C>G) c.*220+5962G>C (n.*220+5962G>C) c.578G>C (p.Ser193Thr) c.605G>C (p.Ser202Thr) c.1460G>C (p.Ser487Thr) c.1274G>C (p.Ser425Thr) c.1193G>C (p.Ser398Thr) c.899G>C (p.Ser300Thr) c.1280G>C (p.Ser427Thr) | |
2 | g.48688262C>T | CA346746439 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1535G>A (p.Ser512Asn) c.948-123G>A (n.948-123G>A) c.3441+16582C>T (n.3441+16582C>T) c.*279G>A (n.*279G>A) c.1454G>A (p.Ser485Asn) c.276+16582C>T (n.276+16582C>T) c.*220+5962G>A (n.*220+5962G>A) c.578G>A (p.Ser193Asn) c.605G>A (p.Ser202Asn) c.1460G>A (p.Ser487Asn) c.1274G>A (p.Ser425Asn) c.1193G>A (p.Ser398Asn) c.899G>A (p.Ser300Asn) c.1280G>A (p.Ser427Asn) | |
2 | g.48688263T>A | CA346746445 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1534A>T (p.Ser512Cys) c.948-124A>T (n.948-124A>T) c.3441+16583T>A (n.3441+16583T>A) c.*278A>T (n.*278A>T) c.1453A>T (p.Ser485Cys) c.276+16583T>A (n.276+16583T>A) c.*220+5961A>T (n.*220+5961A>T) c.577A>T (p.Ser193Cys) c.604A>T (p.Ser202Cys) c.1459A>T (p.Ser487Cys) c.1273A>T (p.Ser425Cys) c.1192A>T (p.Ser398Cys) c.898A>T (p.Ser300Cys) c.1279A>T (p.Ser427Cys) | COSMIC |
2 | g.48688263T>C | CA346746446 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1534A>G (p.Ser512Gly) c.948-124A>G (n.948-124A>G) c.3441+16583T>C (n.3441+16583T>C) c.*278A>G (n.*278A>G) c.1453A>G (p.Ser485Gly) c.276+16583T>C (n.276+16583T>C) c.*220+5961A>G (n.*220+5961A>G) c.577A>G (p.Ser193Gly) c.604A>G (p.Ser202Gly) c.1459A>G (p.Ser487Gly) c.1273A>G (p.Ser425Gly) c.1192A>G (p.Ser398Gly) c.898A>G (p.Ser300Gly) c.1279A>G (p.Ser427Gly) | |
2 | g.48688263T>G | CA346746450 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1534A>C (p.Ser512Arg) c.948-124A>C (n.948-124A>C) c.3441+16583T>G (n.3441+16583T>G) c.*278A>C (n.*278A>C) c.1453A>C (p.Ser485Arg) c.276+16583T>G (n.276+16583T>G) c.*220+5961A>C (n.*220+5961A>C) c.577A>C (p.Ser193Arg) c.604A>C (p.Ser202Arg) c.1459A>C (p.Ser487Arg) c.1273A>C (p.Ser425Arg) c.1192A>C (p.Ser398Arg) c.898A>C (p.Ser300Arg) c.1279A>C (p.Ser427Arg) | |
2 | g.48688264G>A | CA426124932 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1533C>T (p.Val511=) c.948-125C>T (n.948-125C>T) c.3441+16584G>A (n.3441+16584G>A) c.*277C>T (n.*277C>T) c.1452C>T (p.Val484=) c.276+16584G>A (n.276+16584G>A) c.*220+5960C>T (n.*220+5960C>T) c.576C>T (p.Val192=) c.603C>T (p.Val201=) c.1458C>T (p.Val486=) c.1272C>T (p.Val424=) c.1191C>T (p.Val397=) c.897C>T (p.Val299=) c.1278C>T (p.Val426=) | |
2 | g.48688264G>C | CA426124933 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1533C>G (p.Val511=) c.948-125C>G (n.948-125C>G) c.3441+16584G>C (n.3441+16584G>C) c.*277C>G (n.*277C>G) c.1452C>G (p.Val484=) c.276+16584G>C (n.276+16584G>C) c.*220+5960C>G (n.*220+5960C>G) c.576C>G (p.Val192=) c.603C>G (p.Val201=) c.1458C>G (p.Val486=) c.1272C>G (p.Val424=) c.1191C>G (p.Val397=) c.897C>G (p.Val299=) c.1278C>G (p.Val426=) | dbSNP |
2 | g.48688264G>T | CA426124934 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1533C>A (p.Val511=) c.948-125C>A (n.948-125C>A) c.3441+16584G>T (n.3441+16584G>T) c.*277C>A (n.*277C>A) c.1452C>A (p.Val484=) c.276+16584G>T (n.276+16584G>T) c.*220+5960C>A (n.*220+5960C>A) c.576C>A (p.Val192=) c.603C>A (p.Val201=) c.1458C>A (p.Val486=) c.1272C>A (p.Val424=) c.1191C>A (p.Val397=) c.897C>A (p.Val299=) c.1278C>A (p.Val426=) | |
2 | g.48688265A= | CA1248601053 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1532T= (p.Val511=) c.948-126T= (n.948-126T=) c.3441+16585A= (n.3441+16585A=) c.*276T= (n.*276T=) c.1451T= (p.Val484=) c.276+16585A= (n.276+16585A=) c.*220+5959T= (n.*220+5959T=) c.575T= (p.Val192=) c.602T= (p.Val201=) c.1457T= (p.Val486=) c.1271T= (p.Val424=) c.1190T= (p.Val397=) c.896T= (p.Val299=) c.1277T= (p.Val426=) | |
2 | g.48688265A>C | CA346746457 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1532T>G (p.Val511Gly) c.948-126T>G (n.948-126T>G) c.3441+16585A>C (n.3441+16585A>C) c.*276T>G (n.*276T>G) c.1451T>G (p.Val484Gly) c.276+16585A>C (n.276+16585A>C) c.*220+5959T>G (n.*220+5959T>G) c.575T>G (p.Val192Gly) c.602T>G (p.Val201Gly) c.1457T>G (p.Val486Gly) c.1271T>G (p.Val424Gly) c.1190T>G (p.Val397Gly) c.896T>G (p.Val299Gly) c.1277T>G (p.Val426Gly) | |
2 | g.48688265A>G | CA346746459 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1532T>C (p.Val511Ala) c.948-126T>C (n.948-126T>C) c.3441+16585A>G (n.3441+16585A>G) c.*276T>C (n.*276T>C) c.1451T>C (p.Val484Ala) c.276+16585A>G (n.276+16585A>G) c.*220+5959T>C (n.*220+5959T>C) c.575T>C (p.Val192Ala) c.602T>C (p.Val201Ala) c.1457T>C (p.Val486Ala) c.1271T>C (p.Val424Ala) c.1190T>C (p.Val397Ala) c.896T>C (p.Val299Ala) c.1277T>C (p.Val426Ala) | |
2 | g.48688265A>T | CA346746460 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1532T>A (p.Val511Asp) c.948-126T>A (n.948-126T>A) c.3441+16585A>T (n.3441+16585A>T) c.*276T>A (n.*276T>A) c.1451T>A (p.Val484Asp) c.276+16585A>T (n.276+16585A>T) c.*220+5959T>A (n.*220+5959T>A) c.575T>A (p.Val192Asp) c.602T>A (p.Val201Asp) c.1457T>A (p.Val486Asp) c.1271T>A (p.Val424Asp) c.1190T>A (p.Val397Asp) c.896T>A (p.Val299Asp) c.1277T>A (p.Val426Asp) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48688266C>A | CA346746463 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1531G>T (p.Val511Phe) c.948-127G>T (n.948-127G>T) c.3441+16586C>A (n.3441+16586C>A) c.*275G>T (n.*275G>T) c.1450G>T (p.Val484Phe) c.276+16586C>A (n.276+16586C>A) c.*220+5958G>T (n.*220+5958G>T) c.574G>T (p.Val192Phe) c.601G>T (p.Val201Phe) c.1456G>T (p.Val486Phe) c.1270G>T (p.Val424Phe) c.1189G>T (p.Val397Phe) c.895G>T (p.Val299Phe) c.1276G>T (p.Val426Phe) | |
2 | g.48688266C>G | CA346746472 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1531G>C (p.Val511Leu) c.948-127G>C (n.948-127G>C) c.3441+16586C>G (n.3441+16586C>G) c.*275G>C (n.*275G>C) c.1450G>C (p.Val484Leu) c.276+16586C>G (n.276+16586C>G) c.*220+5958G>C (n.*220+5958G>C) c.574G>C (p.Val192Leu) c.601G>C (p.Val201Leu) c.1456G>C (p.Val486Leu) c.1270G>C (p.Val424Leu) c.1189G>C (p.Val397Leu) c.895G>C (p.Val299Leu) c.1276G>C (p.Val426Leu) | |
2 | g.48688266C>T | CA346746474 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1531G>A (p.Val511Ile) c.948-127G>A (n.948-127G>A) c.3441+16586C>T (n.3441+16586C>T) c.*275G>A (n.*275G>A) c.1450G>A (p.Val484Ile) c.276+16586C>T (n.276+16586C>T) c.*220+5958G>A (n.*220+5958G>A) c.574G>A (p.Val192Ile) c.601G>A (p.Val201Ile) c.1456G>A (p.Val486Ile) c.1270G>A (p.Val424Ile) c.1189G>A (p.Val397Ile) c.895G>A (p.Val299Ile) c.1276G>A (p.Val426Ile) | gnomAD v4 |
2 | g.48688267C>A | CA346746477 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1530G>T (p.Lys510Asn) c.948-128G>T (n.948-128G>T) c.3441+16587C>A (n.3441+16587C>A) c.*274G>T (n.*274G>T) c.1449G>T (p.Lys483Asn) c.276+16587C>A (n.276+16587C>A) c.*220+5957G>T (n.*220+5957G>T) c.573G>T (p.Lys191Asn) c.600G>T (p.Lys200Asn) c.1455G>T (p.Lys485Asn) c.1269G>T (p.Lys423Asn) c.1188G>T (p.Lys396Asn) c.894G>T (p.Lys298Asn) c.1275G>T (p.Lys425Asn) | gnomAD v4 |
2 | g.48688267C= | CA1248601054 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1530G= (p.Lys510=) c.948-128G= (n.948-128G=) c.3441+16587C= (n.3441+16587C=) c.*274G= (n.*274G=) c.1449G= (p.Lys483=) c.276+16587C= (n.276+16587C=) c.*220+5957G= (n.*220+5957G=) c.573G= (p.Lys191=) c.600G= (p.Lys200=) c.1455G= (p.Lys485=) c.1269G= (p.Lys423=) c.1188G= (p.Lys396=) c.894G= (p.Lys298=) c.1275G= (p.Lys425=) | |
2 | g.48688267C>G | CA346746478 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1530G>C (p.Lys510Asn) c.948-128G>C (n.948-128G>C) c.3441+16587C>G (n.3441+16587C>G) c.*274G>C (n.*274G>C) c.1449G>C (p.Lys483Asn) c.276+16587C>G (n.276+16587C>G) c.*220+5957G>C (n.*220+5957G>C) c.573G>C (p.Lys191Asn) c.600G>C (p.Lys200Asn) c.1455G>C (p.Lys485Asn) c.1269G>C (p.Lys423Asn) c.1188G>C (p.Lys396Asn) c.894G>C (p.Lys298Asn) c.1275G>C (p.Lys425Asn) | |
2 | g.48688267C>T | CA426124939 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1530G>A (p.Lys510=) c.948-128G>A (n.948-128G>A) c.3441+16587C>T (n.3441+16587C>T) c.*274G>A (n.*274G>A) c.1449G>A (p.Lys483=) c.276+16587C>T (n.276+16587C>T) c.*220+5957G>A (n.*220+5957G>A) c.573G>A (p.Lys191=) c.600G>A (p.Lys200=) c.1455G>A (p.Lys485=) c.1269G>A (p.Lys423=) c.1188G>A (p.Lys396=) c.894G>A (p.Lys298=) c.1275G>A (p.Lys425=) | dbSNP gnomAD v4 |
2 | g.48688268T>A | CA46752912 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1529A>T (p.Lys510Met) c.948-129A>T (n.948-129A>T) c.3441+16588T>A (n.3441+16588T>A) c.*273A>T (n.*273A>T) c.1448A>T (p.Lys483Met) c.276+16588T>A (n.276+16588T>A) c.*220+5956A>T (n.*220+5956A>T) c.572A>T (p.Lys191Met) c.599A>T (p.Lys200Met) c.1454A>T (p.Lys485Met) c.1268A>T (p.Lys423Met) c.1187A>T (p.Lys396Met) c.893A>T (p.Lys298Met) c.1274A>T (p.Lys425Met) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48688268T>C | CA346746480 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1529A>G (p.Lys510Arg) c.948-129A>G (n.948-129A>G) c.3441+16588T>C (n.3441+16588T>C) c.*273A>G (n.*273A>G) c.1448A>G (p.Lys483Arg) c.276+16588T>C (n.276+16588T>C) c.*220+5956A>G (n.*220+5956A>G) c.572A>G (p.Lys191Arg) c.599A>G (p.Lys200Arg) c.1454A>G (p.Lys485Arg) c.1268A>G (p.Lys423Arg) c.1187A>G (p.Lys396Arg) c.893A>G (p.Lys298Arg) c.1274A>G (p.Lys425Arg) | gnomAD v4 |
2 | g.48688268T>G | CA346746479 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1529A>C (p.Lys510Thr) c.948-129A>C (n.948-129A>C) c.3441+16588T>G (n.3441+16588T>G) c.*273A>C (n.*273A>C) c.1448A>C (p.Lys483Thr) c.276+16588T>G (n.276+16588T>G) c.*220+5956A>C (n.*220+5956A>C) c.572A>C (p.Lys191Thr) c.599A>C (p.Lys200Thr) c.1454A>C (p.Lys485Thr) c.1268A>C (p.Lys423Thr) c.1187A>C (p.Lys396Thr) c.893A>C (p.Lys298Thr) c.1274A>C (p.Lys425Thr) | |
2 | g.48688268T= | CA1248601055 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1529A= (p.Lys510=) c.948-129A= (n.948-129A=) c.3441+16588T= (n.3441+16588T=) c.*273A= (n.*273A=) c.1448A= (p.Lys483=) c.276+16588T= (n.276+16588T=) c.*220+5956A= (n.*220+5956A=) c.572A= (p.Lys191=) c.599A= (p.Lys200=) c.1454A= (p.Lys485=) c.1268A= (p.Lys423=) c.1187A= (p.Lys396=) c.893A= (p.Lys298=) c.1274A= (p.Lys425=) | |
2 | g.48688269T>A | CA346746484 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1528A>T (p.Lys510Ter) c.948-130A>T (n.948-130A>T) c.3441+16589T>A (n.3441+16589T>A) c.*272A>T (n.*272A>T) c.1447A>T (p.Lys483Ter) c.276+16589T>A (n.276+16589T>A) c.*220+5955A>T (n.*220+5955A>T) c.571A>T (p.Lys191Ter) c.598A>T (p.Lys200Ter) c.1453A>T (p.Lys485Ter) c.1267A>T (p.Lys423Ter) c.1186A>T (p.Lys396Ter) c.892A>T (p.Lys298Ter) c.1273A>T (p.Lys425Ter) | |
2 | g.48688269T>C | CA346746491 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1528A>G (p.Lys510Glu) c.948-130A>G (n.948-130A>G) c.3441+16589T>C (n.3441+16589T>C) c.*272A>G (n.*272A>G) c.1447A>G (p.Lys483Glu) c.276+16589T>C (n.276+16589T>C) c.*220+5955A>G (n.*220+5955A>G) c.571A>G (p.Lys191Glu) c.598A>G (p.Lys200Glu) c.1453A>G (p.Lys485Glu) c.1267A>G (p.Lys423Glu) c.1186A>G (p.Lys396Glu) c.892A>G (p.Lys298Glu) c.1273A>G (p.Lys425Glu) | |
2 | g.48688269T>G | CA346746488 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1528A>C (p.Lys510Gln) c.948-130A>C (n.948-130A>C) c.3441+16589T>G (n.3441+16589T>G) c.*272A>C (n.*272A>C) c.1447A>C (p.Lys483Gln) c.276+16589T>G (n.276+16589T>G) c.*220+5955A>C (n.*220+5955A>C) c.571A>C (p.Lys191Gln) c.598A>C (p.Lys200Gln) c.1453A>C (p.Lys485Gln) c.1267A>C (p.Lys423Gln) c.1186A>C (p.Lys396Gln) c.892A>C (p.Lys298Gln) c.1273A>C (p.Lys425Gln) | |
2 | g.48688270C>A | CA346746495 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1527G>T (p.Met509Ile) c.948-131G>T (n.948-131G>T) c.3441+16590C>A (n.3441+16590C>A) c.*271G>T (n.*271G>T) c.1446G>T (p.Met482Ile) c.276+16590C>A (n.276+16590C>A) c.*220+5954G>T (n.*220+5954G>T) c.570G>T (p.Met190Ile) c.597G>T (p.Met199Ile) c.1452G>T (p.Met484Ile) c.1266G>T (p.Met422Ile) c.1185G>T (p.Met395Ile) c.891G>T (p.Met297Ile) c.1272G>T (p.Met424Ile) | |
2 | g.48688270C>G | CA346746498 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1527G>C (p.Met509Ile) c.948-131G>C (n.948-131G>C) c.3441+16590C>G (n.3441+16590C>G) c.*271G>C (n.*271G>C) c.1446G>C (p.Met482Ile) c.276+16590C>G (n.276+16590C>G) c.*220+5954G>C (n.*220+5954G>C) c.570G>C (p.Met190Ile) c.597G>C (p.Met199Ile) c.1452G>C (p.Met484Ile) c.1266G>C (p.Met422Ile) c.1185G>C (p.Met395Ile) c.891G>C (p.Met297Ile) c.1272G>C (p.Met424Ile) | |
2 | g.48688270C>T | CA346746506 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1527G>A (p.Met509Ile) c.948-131G>A (n.948-131G>A) c.3441+16590C>T (n.3441+16590C>T) c.*271G>A (n.*271G>A) c.1446G>A (p.Met482Ile) c.276+16590C>T (n.276+16590C>T) c.*220+5954G>A (n.*220+5954G>A) c.570G>A (p.Met190Ile) c.597G>A (p.Met199Ile) c.1452G>A (p.Met484Ile) c.1266G>A (p.Met422Ile) c.1185G>A (p.Met395Ile) c.891G>A (p.Met297Ile) c.1272G>A (p.Met424Ile) | COSMIC |
2 | g.48688271A= | CA1248601056 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1526T= (p.Met509=) c.948-132T= (n.948-132T=) c.3441+16591A= (n.3441+16591A=) c.*270T= (n.*270T=) c.1445T= (p.Met482=) c.276+16591A= (n.276+16591A=) c.*220+5953T= (n.*220+5953T=) c.569T= (p.Met190=) c.596T= (p.Met199=) c.1451T= (p.Met484=) c.1265T= (p.Met422=) c.1184T= (p.Met395=) c.890T= (p.Met297=) c.1271T= (p.Met424=) | |
2 | g.48688271A>C | CA346746508 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1526T>G (p.Met509Arg) c.948-132T>G (n.948-132T>G) c.3441+16591A>C (n.3441+16591A>C) c.*270T>G (n.*270T>G) c.1445T>G (p.Met482Arg) c.276+16591A>C (n.276+16591A>C) c.*220+5953T>G (n.*220+5953T>G) c.569T>G (p.Met190Arg) c.596T>G (p.Met199Arg) c.1451T>G (p.Met484Arg) c.1265T>G (p.Met422Arg) c.1184T>G (p.Met395Arg) c.890T>G (p.Met297Arg) c.1271T>G (p.Met424Arg) | |
2 | g.48688271A>G | CA1653020 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1526T>C (p.Met509Thr) c.948-132T>C (n.948-132T>C) c.3441+16591A>G (n.3441+16591A>G) c.*270T>C (n.*270T>C) c.1445T>C (p.Met482Thr) c.276+16591A>G (n.276+16591A>G) c.*220+5953T>C (n.*220+5953T>C) c.569T>C (p.Met190Thr) c.596T>C (p.Met199Thr) c.1451T>C (p.Met484Thr) c.1265T>C (p.Met422Thr) c.1184T>C (p.Met395Thr) c.890T>C (p.Met297Thr) c.1271T>C (p.Met424Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688271A>T | CA346746512 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1526T>A (p.Met509Lys) c.948-132T>A (n.948-132T>A) c.3441+16591A>T (n.3441+16591A>T) c.*270T>A (n.*270T>A) c.1445T>A (p.Met482Lys) c.276+16591A>T (n.276+16591A>T) c.*220+5953T>A (n.*220+5953T>A) c.569T>A (p.Met190Lys) c.596T>A (p.Met199Lys) c.1451T>A (p.Met484Lys) c.1265T>A (p.Met422Lys) c.1184T>A (p.Met395Lys) c.890T>A (p.Met297Lys) c.1271T>A (p.Met424Lys) | gnomAD v4 |
2 | g.48688272T>A | CA346746516 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1525A>T (p.Met509Leu) c.948-133A>T (n.948-133A>T) c.3441+16592T>A (n.3441+16592T>A) c.*269A>T (n.*269A>T) c.1444A>T (p.Met482Leu) c.276+16592T>A (n.276+16592T>A) c.*220+5952A>T (n.*220+5952A>T) c.568A>T (p.Met190Leu) c.595A>T (p.Met199Leu) c.1450A>T (p.Met484Leu) c.1264A>T (p.Met422Leu) c.1183A>T (p.Met395Leu) c.889A>T (p.Met297Leu) c.1270A>T (p.Met424Leu) | |
2 | g.48688272T>C | CA46752923 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1525A>G (p.Met509Val) c.948-133A>G (n.948-133A>G) c.3441+16592T>C (n.3441+16592T>C) c.*269A>G (n.*269A>G) c.1444A>G (p.Met482Val) c.276+16592T>C (n.276+16592T>C) c.*220+5952A>G (n.*220+5952A>G) c.568A>G (p.Met190Val) c.595A>G (p.Met199Val) c.1450A>G (p.Met484Val) c.1264A>G (p.Met422Val) c.1183A>G (p.Met395Val) c.889A>G (p.Met297Val) c.1270A>G (p.Met424Val) | dbSNP gnomAD v4 |
2 | g.48688272T>G | CA346746524 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1525A>C (p.Met509Leu) c.948-133A>C (n.948-133A>C) c.3441+16592T>G (n.3441+16592T>G) c.*269A>C (n.*269A>C) c.1444A>C (p.Met482Leu) c.276+16592T>G (n.276+16592T>G) c.*220+5952A>C (n.*220+5952A>C) c.568A>C (p.Met190Leu) c.595A>C (p.Met199Leu) c.1450A>C (p.Met484Leu) c.1264A>C (p.Met422Leu) c.1183A>C (p.Met395Leu) c.889A>C (p.Met297Leu) c.1270A>C (p.Met424Leu) | |
2 | g.48688272T= | CA1248601057 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1525A= (p.Met509=) c.948-133A= (n.948-133A=) c.3441+16592T= (n.3441+16592T=) c.*269A= (n.*269A=) c.1444A= (p.Met482=) c.276+16592T= (n.276+16592T=) c.*220+5952A= (n.*220+5952A=) c.568A= (p.Met190=) c.595A= (p.Met199=) c.1450A= (p.Met484=) c.1264A= (p.Met422=) c.1183A= (p.Met395=) c.889A= (p.Met297=) c.1270A= (p.Met424=) | |
2 | g.48688273G>A | CA426124948 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1524C>T (p.Tyr508=) c.948-134C>T (n.948-134C>T) c.3441+16593G>A (n.3441+16593G>A) c.*268C>T (n.*268C>T) c.1443C>T (p.Tyr481=) c.276+16593G>A (n.276+16593G>A) c.*220+5951C>T (n.*220+5951C>T) c.567C>T (p.Tyr189=) c.594C>T (p.Tyr198=) c.1449C>T (p.Tyr483=) c.1263C>T (p.Tyr421=) c.1182C>T (p.Tyr394=) c.888C>T (p.Tyr296=) c.1269C>T (p.Tyr423=) | COSMIC |
2 | g.48688273G>C | CA346746527 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1524C>G (p.Tyr508Ter) c.948-134C>G (n.948-134C>G) c.3441+16593G>C (n.3441+16593G>C) c.*268C>G (n.*268C>G) c.1443C>G (p.Tyr481Ter) c.276+16593G>C (n.276+16593G>C) c.*220+5951C>G (n.*220+5951C>G) c.567C>G (p.Tyr189Ter) c.594C>G (p.Tyr198Ter) c.1449C>G (p.Tyr483Ter) c.1263C>G (p.Tyr421Ter) c.1182C>G (p.Tyr394Ter) c.888C>G (p.Tyr296Ter) c.1269C>G (p.Tyr423Ter) | |
2 | g.48688273G>T | CA346746531 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1524C>A (p.Tyr508Ter) c.948-134C>A (n.948-134C>A) c.3441+16593G>T (n.3441+16593G>T) c.*268C>A (n.*268C>A) c.1443C>A (p.Tyr481Ter) c.276+16593G>T (n.276+16593G>T) c.*220+5951C>A (n.*220+5951C>A) c.567C>A (p.Tyr189Ter) c.594C>A (p.Tyr198Ter) c.1449C>A (p.Tyr483Ter) c.1263C>A (p.Tyr421Ter) c.1182C>A (p.Tyr394Ter) c.888C>A (p.Tyr296Ter) c.1269C>A (p.Tyr423Ter) | gnomAD v4 |
2 | g.48688274T>A | CA346746540 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1523A>T (p.Tyr508Phe) c.948-135A>T (n.948-135A>T) c.3441+16594T>A (n.3441+16594T>A) c.*267A>T (n.*267A>T) c.1442A>T (p.Tyr481Phe) c.276+16594T>A (n.276+16594T>A) c.*220+5950A>T (n.*220+5950A>T) c.566A>T (p.Tyr189Phe) c.593A>T (p.Tyr198Phe) c.1448A>T (p.Tyr483Phe) c.1262A>T (p.Tyr421Phe) c.1181A>T (p.Tyr394Phe) c.887A>T (p.Tyr296Phe) c.1268A>T (p.Tyr423Phe) | COSMIC |
2 | g.48688274T>C | CA346746537 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1523A>G (p.Tyr508Cys) c.948-135A>G (n.948-135A>G) c.3441+16594T>C (n.3441+16594T>C) c.*267A>G (n.*267A>G) c.1442A>G (p.Tyr481Cys) c.276+16594T>C (n.276+16594T>C) c.*220+5950A>G (n.*220+5950A>G) c.566A>G (p.Tyr189Cys) c.593A>G (p.Tyr198Cys) c.1448A>G (p.Tyr483Cys) c.1262A>G (p.Tyr421Cys) c.1181A>G (p.Tyr394Cys) c.887A>G (p.Tyr296Cys) c.1268A>G (p.Tyr423Cys) | |
2 | g.48688274T>G | CA346746534 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1523A>C (p.Tyr508Ser) c.948-135A>C (n.948-135A>C) c.3441+16594T>G (n.3441+16594T>G) c.*267A>C (n.*267A>C) c.1442A>C (p.Tyr481Ser) c.276+16594T>G (n.276+16594T>G) c.*220+5950A>C (n.*220+5950A>C) c.566A>C (p.Tyr189Ser) c.593A>C (p.Tyr198Ser) c.1448A>C (p.Tyr483Ser) c.1262A>C (p.Tyr421Ser) c.1181A>C (p.Tyr394Ser) c.887A>C (p.Tyr296Ser) c.1268A>C (p.Tyr423Ser) | |
2 | g.48688275A>C | CA346746541 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1522T>G (p.Tyr508Asp) c.948-136T>G (n.948-136T>G) c.3441+16595A>C (n.3441+16595A>C) c.*266T>G (n.*266T>G) c.1441T>G (p.Tyr481Asp) c.276+16595A>C (n.276+16595A>C) c.*220+5949T>G (n.*220+5949T>G) c.565T>G (p.Tyr189Asp) c.592T>G (p.Tyr198Asp) c.1447T>G (p.Tyr483Asp) c.1261T>G (p.Tyr421Asp) c.1180T>G (p.Tyr394Asp) c.886T>G (p.Tyr296Asp) c.1267T>G (p.Tyr423Asp) | |
2 | g.48688275A>G | CA346746542 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1522T>C (p.Tyr508His) c.948-136T>C (n.948-136T>C) c.3441+16595A>G (n.3441+16595A>G) c.*266T>C (n.*266T>C) c.1441T>C (p.Tyr481His) c.276+16595A>G (n.276+16595A>G) c.*220+5949T>C (n.*220+5949T>C) c.565T>C (p.Tyr189His) c.592T>C (p.Tyr198His) c.1447T>C (p.Tyr483His) c.1261T>C (p.Tyr421His) c.1180T>C (p.Tyr394His) c.886T>C (p.Tyr296His) c.1267T>C (p.Tyr423His) | |
2 | g.48688275A>T | CA346746543 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1522T>A (p.Tyr508Asn) c.948-136T>A (n.948-136T>A) c.3441+16595A>T (n.3441+16595A>T) c.*266T>A (n.*266T>A) c.1441T>A (p.Tyr481Asn) c.276+16595A>T (n.276+16595A>T) c.*220+5949T>A (n.*220+5949T>A) c.565T>A (p.Tyr189Asn) c.592T>A (p.Tyr198Asn) c.1447T>A (p.Tyr483Asn) c.1261T>A (p.Tyr421Asn) c.1180T>A (p.Tyr394Asn) c.886T>A (p.Tyr296Asn) c.1267T>A (p.Tyr423Asn) | |
2 | g.48688276A>C | CA346746544 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1521T>G (p.Asn507Lys) c.948-137T>G (n.948-137T>G) c.3441+16596A>C (n.3441+16596A>C) c.*265T>G (n.*265T>G) c.1440T>G (p.Asn480Lys) c.276+16596A>C (n.276+16596A>C) c.*220+5948T>G (n.*220+5948T>G) c.564T>G (p.Asn188Lys) c.591T>G (p.Asn197Lys) c.1446T>G (p.Asn482Lys) c.1260T>G (p.Asn420Lys) c.1179T>G (p.Asn393Lys) c.885T>G (p.Asn295Lys) c.1266T>G (p.Asn422Lys) | |
2 | g.48688276A>G | CA426124951 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1521T>C (p.Asn507=) c.948-137T>C (n.948-137T>C) c.3441+16596A>G (n.3441+16596A>G) c.*265T>C (n.*265T>C) c.1440T>C (p.Asn480=) c.276+16596A>G (n.276+16596A>G) c.*220+5948T>C (n.*220+5948T>C) c.564T>C (p.Asn188=) c.591T>C (p.Asn197=) c.1446T>C (p.Asn482=) c.1260T>C (p.Asn420=) c.1179T>C (p.Asn393=) c.885T>C (p.Asn295=) c.1266T>C (p.Asn422=) | gnomAD v4 |
2 | g.48688276A>T | CA346746546 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1521T>A (p.Asn507Lys) c.948-137T>A (n.948-137T>A) c.3441+16596A>T (n.3441+16596A>T) c.*265T>A (n.*265T>A) c.1440T>A (p.Asn480Lys) c.276+16596A>T (n.276+16596A>T) c.*220+5948T>A (n.*220+5948T>A) c.564T>A (p.Asn188Lys) c.591T>A (p.Asn197Lys) c.1446T>A (p.Asn482Lys) c.1260T>A (p.Asn420Lys) c.1179T>A (p.Asn393Lys) c.885T>A (p.Asn295Lys) c.1266T>A (p.Asn422Lys) | |
2 | g.48688277T>A | CA346746549 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1520A>T (p.Asn507Ile) c.948-138A>T (n.948-138A>T) c.3441+16597T>A (n.3441+16597T>A) c.*264A>T (n.*264A>T) c.1439A>T (p.Asn480Ile) c.276+16597T>A (n.276+16597T>A) c.*220+5947A>T (n.*220+5947A>T) c.563A>T (p.Asn188Ile) c.590A>T (p.Asn197Ile) c.1445A>T (p.Asn482Ile) c.1259A>T (p.Asn420Ile) c.1178A>T (p.Asn393Ile) c.884A>T (p.Asn295Ile) c.1265A>T (p.Asn422Ile) | |
2 | g.48688277T>C | CA346746551 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1520A>G (p.Asn507Ser) c.948-138A>G (n.948-138A>G) c.3441+16597T>C (n.3441+16597T>C) c.*264A>G (n.*264A>G) c.1439A>G (p.Asn480Ser) c.276+16597T>C (n.276+16597T>C) c.*220+5947A>G (n.*220+5947A>G) c.563A>G (p.Asn188Ser) c.590A>G (p.Asn197Ser) c.1445A>G (p.Asn482Ser) c.1259A>G (p.Asn420Ser) c.1178A>G (p.Asn393Ser) c.884A>G (p.Asn295Ser) c.1265A>G (p.Asn422Ser) | ClinVar dbSNP gnomAD v4 |
2 | g.48688277T>G | CA346746552 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1520A>C (p.Asn507Thr) c.948-138A>C (n.948-138A>C) c.3441+16597T>G (n.3441+16597T>G) c.*264A>C (n.*264A>C) c.1439A>C (p.Asn480Thr) c.276+16597T>G (n.276+16597T>G) c.*220+5947A>C (n.*220+5947A>C) c.563A>C (p.Asn188Thr) c.590A>C (p.Asn197Thr) c.1445A>C (p.Asn482Thr) c.1259A>C (p.Asn420Thr) c.1178A>C (p.Asn393Thr) c.884A>C (p.Asn295Thr) c.1265A>C (p.Asn422Thr) | |
2 | g.48688277T= | CA1248601058 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1520A= (p.Asn507=) c.948-138A= (n.948-138A=) c.3441+16597T= (n.3441+16597T=) c.*264A= (n.*264A=) c.1439A= (p.Asn480=) c.276+16597T= (n.276+16597T=) c.*220+5947A= (n.*220+5947A=) c.563A= (p.Asn188=) c.590A= (p.Asn197=) c.1445A= (p.Asn482=) c.1259A= (p.Asn420=) c.1178A= (p.Asn393=) c.884A= (p.Asn295=) c.1265A= (p.Asn422=) | |
2 | g.48688278T>A | CA346746554 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1519A>T (p.Asn507Tyr) c.948-139A>T (n.948-139A>T) c.3441+16598T>A (n.3441+16598T>A) c.*263A>T (n.*263A>T) c.1438A>T (p.Asn480Tyr) c.276+16598T>A (n.276+16598T>A) c.*220+5946A>T (n.*220+5946A>T) c.562A>T (p.Asn188Tyr) c.589A>T (p.Asn197Tyr) c.1444A>T (p.Asn482Tyr) c.1258A>T (p.Asn420Tyr) c.1177A>T (p.Asn393Tyr) c.883A>T (p.Asn295Tyr) c.1264A>T (p.Asn422Tyr) | |
2 | g.48688278T>C | CA346746556 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1519A>G (p.Asn507Asp) c.948-139A>G (n.948-139A>G) c.3441+16598T>C (n.3441+16598T>C) c.*263A>G (n.*263A>G) c.1438A>G (p.Asn480Asp) c.276+16598T>C (n.276+16598T>C) c.*220+5946A>G (n.*220+5946A>G) c.562A>G (p.Asn188Asp) c.589A>G (p.Asn197Asp) c.1444A>G (p.Asn482Asp) c.1258A>G (p.Asn420Asp) c.1177A>G (p.Asn393Asp) c.883A>G (p.Asn295Asp) c.1264A>G (p.Asn422Asp) | |
2 | g.48688278T>G | CA346746559 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1519A>C (p.Asn507His) c.948-139A>C (n.948-139A>C) c.3441+16598T>G (n.3441+16598T>G) c.*263A>C (n.*263A>C) c.1438A>C (p.Asn480His) c.276+16598T>G (n.276+16598T>G) c.*220+5946A>C (n.*220+5946A>C) c.562A>C (p.Asn188His) c.589A>C (p.Asn197His) c.1444A>C (p.Asn482His) c.1258A>C (p.Asn420His) c.1177A>C (p.Asn393His) c.883A>C (p.Asn295His) c.1264A>C (p.Asn422His) | |
2 | g.48688279G>A | CA426124952 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1518C>T (p.Ser506=) c.948-140C>T (n.948-140C>T) c.3441+16599G>A (n.3441+16599G>A) c.*262C>T (n.*262C>T) c.1437C>T (p.Ser479=) c.276+16599G>A (n.276+16599G>A) c.*220+5945C>T (n.*220+5945C>T) c.561C>T (p.Ser187=) c.588C>T (p.Ser196=) c.1443C>T (p.Ser481=) c.1257C>T (p.Ser419=) c.1176C>T (p.Ser392=) c.882C>T (p.Ser294=) c.1263C>T (p.Ser421=) | gnomAD v4 |
2 | g.48688279G>C | CA346746562 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1518C>G (p.Ser506Arg) c.948-140C>G (n.948-140C>G) c.3441+16599G>C (n.3441+16599G>C) c.*262C>G (n.*262C>G) c.1437C>G (p.Ser479Arg) c.276+16599G>C (n.276+16599G>C) c.*220+5945C>G (n.*220+5945C>G) c.561C>G (p.Ser187Arg) c.588C>G (p.Ser196Arg) c.1443C>G (p.Ser481Arg) c.1257C>G (p.Ser419Arg) c.1176C>G (p.Ser392Arg) c.882C>G (p.Ser294Arg) c.1263C>G (p.Ser421Arg) | |
2 | g.48688279G>T | CA346746565 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1518C>A (p.Ser506Arg) c.948-140C>A (n.948-140C>A) c.3441+16599G>T (n.3441+16599G>T) c.*262C>A (n.*262C>A) c.1437C>A (p.Ser479Arg) c.276+16599G>T (n.276+16599G>T) c.*220+5945C>A (n.*220+5945C>A) c.561C>A (p.Ser187Arg) c.588C>A (p.Ser196Arg) c.1443C>A (p.Ser481Arg) c.1257C>A (p.Ser419Arg) c.1176C>A (p.Ser392Arg) c.882C>A (p.Ser294Arg) c.1263C>A (p.Ser421Arg) | |
2 | g.48688280C>A | CA346746569 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1517G>T (p.Ser506Ile) c.948-141G>T (n.948-141G>T) c.3441+16600C>A (n.3441+16600C>A) c.*261G>T (n.*261G>T) c.1436G>T (p.Ser479Ile) c.276+16600C>A (n.276+16600C>A) c.*220+5944G>T (n.*220+5944G>T) c.560G>T (p.Ser187Ile) c.587G>T (p.Ser196Ile) c.1442G>T (p.Ser481Ile) c.1256G>T (p.Ser419Ile) c.1175G>T (p.Ser392Ile) c.881G>T (p.Ser294Ile) c.1262G>T (p.Ser421Ile) | COSMIC |
2 | g.48688280C>G | CA346746571 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1517G>C (p.Ser506Thr) c.948-141G>C (n.948-141G>C) c.3441+16600C>G (n.3441+16600C>G) c.*261G>C (n.*261G>C) c.1436G>C (p.Ser479Thr) c.276+16600C>G (n.276+16600C>G) c.*220+5944G>C (n.*220+5944G>C) c.560G>C (p.Ser187Thr) c.587G>C (p.Ser196Thr) c.1442G>C (p.Ser481Thr) c.1256G>C (p.Ser419Thr) c.1175G>C (p.Ser392Thr) c.881G>C (p.Ser294Thr) c.1262G>C (p.Ser421Thr) | |
2 | g.48688280C>T | CA346746567 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1517G>A (p.Ser506Asn) c.948-141G>A (n.948-141G>A) c.3441+16600C>T (n.3441+16600C>T) c.*261G>A (n.*261G>A) c.1436G>A (p.Ser479Asn) c.276+16600C>T (n.276+16600C>T) c.*220+5944G>A (n.*220+5944G>A) c.560G>A (p.Ser187Asn) c.587G>A (p.Ser196Asn) c.1442G>A (p.Ser481Asn) c.1256G>A (p.Ser419Asn) c.1175G>A (p.Ser392Asn) c.881G>A (p.Ser294Asn) c.1262G>A (p.Ser421Asn) | |
2 | g.48688281T>A | CA346746574 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1516A>T (p.Ser506Cys) c.948-142A>T (n.948-142A>T) c.3441+16601T>A (n.3441+16601T>A) c.*260A>T (n.*260A>T) c.1435A>T (p.Ser479Cys) c.276+16601T>A (n.276+16601T>A) c.*220+5943A>T (n.*220+5943A>T) c.559A>T (p.Ser187Cys) c.586A>T (p.Ser196Cys) c.1441A>T (p.Ser481Cys) c.1255A>T (p.Ser419Cys) c.1174A>T (p.Ser392Cys) c.880A>T (p.Ser294Cys) c.1261A>T (p.Ser421Cys) | |
2 | g.48688281T>C | CA346746578 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1516A>G (p.Ser506Gly) c.948-142A>G (n.948-142A>G) c.3441+16601T>C (n.3441+16601T>C) c.*260A>G (n.*260A>G) c.1435A>G (p.Ser479Gly) c.276+16601T>C (n.276+16601T>C) c.*220+5943A>G (n.*220+5943A>G) c.559A>G (p.Ser187Gly) c.586A>G (p.Ser196Gly) c.1441A>G (p.Ser481Gly) c.1255A>G (p.Ser419Gly) c.1174A>G (p.Ser392Gly) c.880A>G (p.Ser294Gly) c.1261A>G (p.Ser421Gly) | gnomAD v4 |
2 | g.48688281T>G | CA346746576 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1516A>C (p.Ser506Arg) c.948-142A>C (n.948-142A>C) c.3441+16601T>G (n.3441+16601T>G) c.*260A>C (n.*260A>C) c.1435A>C (p.Ser479Arg) c.276+16601T>G (n.276+16601T>G) c.*220+5943A>C (n.*220+5943A>C) c.559A>C (p.Ser187Arg) c.586A>C (p.Ser196Arg) c.1441A>C (p.Ser481Arg) c.1255A>C (p.Ser419Arg) c.1174A>C (p.Ser392Arg) c.880A>C (p.Ser294Arg) c.1261A>C (p.Ser421Arg) | |
2 | g.48688282G>A | CA426124955 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1515C>T (p.Val505=) c.948-143C>T (n.948-143C>T) c.3441+16602G>A (n.3441+16602G>A) c.*259C>T (n.*259C>T) c.1434C>T (p.Val478=) c.276+16602G>A (n.276+16602G>A) c.*220+5942C>T (n.*220+5942C>T) c.558C>T (p.Val186=) c.585C>T (p.Val195=) c.1440C>T (p.Val480=) c.1254C>T (p.Val418=) c.1173C>T (p.Val391=) c.879C>T (p.Val293=) c.1260C>T (p.Val420=) | |
2 | g.48688282G>C | CA426124956 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1515C>G (p.Val505=) c.948-143C>G (n.948-143C>G) c.3441+16602G>C (n.3441+16602G>C) c.*259C>G (n.*259C>G) c.1434C>G (p.Val478=) c.276+16602G>C (n.276+16602G>C) c.*220+5942C>G (n.*220+5942C>G) c.558C>G (p.Val186=) c.585C>G (p.Val195=) c.1440C>G (p.Val480=) c.1254C>G (p.Val418=) c.1173C>G (p.Val391=) c.879C>G (p.Val293=) c.1260C>G (p.Val420=) | |
2 | g.48688282G>T | CA426124957 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1515C>A (p.Val505=) c.948-143C>A (n.948-143C>A) c.3441+16602G>T (n.3441+16602G>T) c.*259C>A (n.*259C>A) c.1434C>A (p.Val478=) c.276+16602G>T (n.276+16602G>T) c.*220+5942C>A (n.*220+5942C>A) c.558C>A (p.Val186=) c.585C>A (p.Val195=) c.1440C>A (p.Val480=) c.1254C>A (p.Val418=) c.1173C>A (p.Val391=) c.879C>A (p.Val293=) c.1260C>A (p.Val420=) | |
2 | g.48688283A= | CA1248601059 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1514T= (p.Val505=) c.948-144T= (n.948-144T=) c.3441+16603A= (n.3441+16603A=) c.*258T= (n.*258T=) c.1433T= (p.Val478=) c.276+16603A= (n.276+16603A=) c.*220+5941T= (n.*220+5941T=) c.557T= (p.Val186=) c.584T= (p.Val195=) c.1439T= (p.Val480=) c.1253T= (p.Val418=) c.1172T= (p.Val391=) c.878T= (p.Val293=) c.1259T= (p.Val420=) | |
2 | g.48688283A>C | CA346746580 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1514T>G (p.Val505Gly) c.948-144T>G (n.948-144T>G) c.3441+16603A>C (n.3441+16603A>C) c.*258T>G (n.*258T>G) c.1433T>G (p.Val478Gly) c.276+16603A>C (n.276+16603A>C) c.*220+5941T>G (n.*220+5941T>G) c.557T>G (p.Val186Gly) c.584T>G (p.Val195Gly) c.1439T>G (p.Val480Gly) c.1253T>G (p.Val418Gly) c.1172T>G (p.Val391Gly) c.878T>G (p.Val293Gly) c.1259T>G (p.Val420Gly) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48688283A>G | CA346746584 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1514T>C (p.Val505Ala) c.948-144T>C (n.948-144T>C) c.3441+16603A>G (n.3441+16603A>G) c.*258T>C (n.*258T>C) c.1433T>C (p.Val478Ala) c.276+16603A>G (n.276+16603A>G) c.*220+5941T>C (n.*220+5941T>C) c.557T>C (p.Val186Ala) c.584T>C (p.Val195Ala) c.1439T>C (p.Val480Ala) c.1253T>C (p.Val418Ala) c.1172T>C (p.Val391Ala) c.878T>C (p.Val293Ala) c.1259T>C (p.Val420Ala) | |
2 | g.48688283A>T | CA346746581 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1514T>A (p.Val505Asp) c.948-144T>A (n.948-144T>A) c.3441+16603A>T (n.3441+16603A>T) c.*258T>A (n.*258T>A) c.1433T>A (p.Val478Asp) c.276+16603A>T (n.276+16603A>T) c.*220+5941T>A (n.*220+5941T>A) c.557T>A (p.Val186Asp) c.584T>A (p.Val195Asp) c.1439T>A (p.Val480Asp) c.1253T>A (p.Val418Asp) c.1172T>A (p.Val391Asp) c.878T>A (p.Val293Asp) c.1259T>A (p.Val420Asp) | |
2 | g.48688284C>A | CA346746589 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1513G>T (p.Val505Phe) c.948-145G>T (n.948-145G>T) c.3441+16604C>A (n.3441+16604C>A) c.*257G>T (n.*257G>T) c.1432G>T (p.Val478Phe) c.276+16604C>A (n.276+16604C>A) c.*220+5940G>T (n.*220+5940G>T) c.556G>T (p.Val186Phe) c.583G>T (p.Val195Phe) c.1438G>T (p.Val480Phe) c.1252G>T (p.Val418Phe) c.1171G>T (p.Val391Phe) c.877G>T (p.Val293Phe) c.1258G>T (p.Val420Phe) | gnomAD v4 |
2 | g.48688284C>G | CA346746596 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1513G>C (p.Val505Leu) c.948-145G>C (n.948-145G>C) c.3441+16604C>G (n.3441+16604C>G) c.*257G>C (n.*257G>C) c.1432G>C (p.Val478Leu) c.276+16604C>G (n.276+16604C>G) c.*220+5940G>C (n.*220+5940G>C) c.556G>C (p.Val186Leu) c.583G>C (p.Val195Leu) c.1438G>C (p.Val480Leu) c.1252G>C (p.Val418Leu) c.1171G>C (p.Val391Leu) c.877G>C (p.Val293Leu) c.1258G>C (p.Val420Leu) | |
2 | g.48688284C>T | CA346746592 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1513G>A (p.Val505Ile) c.948-145G>A (n.948-145G>A) c.3441+16604C>T (n.3441+16604C>T) c.*257G>A (n.*257G>A) c.1432G>A (p.Val478Ile) c.276+16604C>T (n.276+16604C>T) c.*220+5940G>A (n.*220+5940G>A) c.556G>A (p.Val186Ile) c.583G>A (p.Val195Ile) c.1438G>A (p.Val480Ile) c.1252G>A (p.Val418Ile) c.1171G>A (p.Val391Ile) c.877G>A (p.Val293Ile) c.1258G>A (p.Val420Ile) | COSMIC |
2 | g.48688285A= | CA1248601060 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1512T= (p.Gly504=) c.948-146T= (n.948-146T=) c.3441+16605A= (n.3441+16605A=) c.*256T= (n.*256T=) c.1431T= (p.Gly477=) c.276+16605A= (n.276+16605A=) c.*220+5939T= (n.*220+5939T=) c.555T= (p.Gly185=) c.582T= (p.Gly194=) c.1437T= (p.Gly479=) c.1251T= (p.Gly417=) c.1170T= (p.Gly390=) c.876T= (p.Gly292=) c.1257T= (p.Gly419=) | |
2 | g.48688285A>C | CA46752925 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1512T>G (p.Gly504=) c.948-146T>G (n.948-146T>G) c.3441+16605A>C (n.3441+16605A>C) c.*256T>G (n.*256T>G) c.1431T>G (p.Gly477=) c.276+16605A>C (n.276+16605A>C) c.*220+5939T>G (n.*220+5939T>G) c.555T>G (p.Gly185=) c.582T>G (p.Gly194=) c.1437T>G (p.Gly479=) c.1251T>G (p.Gly417=) c.1170T>G (p.Gly390=) c.876T>G (p.Gly292=) c.1257T>G (p.Gly419=) | dbSNP |
2 | g.48688285A>G | CA426124963 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1512T>C (p.Gly504=) c.948-146T>C (n.948-146T>C) c.3441+16605A>G (n.3441+16605A>G) c.*256T>C (n.*256T>C) c.1431T>C (p.Gly477=) c.276+16605A>G (n.276+16605A>G) c.*220+5939T>C (n.*220+5939T>C) c.555T>C (p.Gly185=) c.582T>C (p.Gly194=) c.1437T>C (p.Gly479=) c.1251T>C (p.Gly417=) c.1170T>C (p.Gly390=) c.876T>C (p.Gly292=) c.1257T>C (p.Gly419=) | |
2 | g.48688285A>T | CA426124964 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1512T>A (p.Gly504=) c.948-146T>A (n.948-146T>A) c.3441+16605A>T (n.3441+16605A>T) c.*256T>A (n.*256T>A) c.1431T>A (p.Gly477=) c.276+16605A>T (n.276+16605A>T) c.*220+5939T>A (n.*220+5939T>A) c.555T>A (p.Gly185=) c.582T>A (p.Gly194=) c.1437T>A (p.Gly479=) c.1251T>A (p.Gly417=) c.1170T>A (p.Gly390=) c.876T>A (p.Gly292=) c.1257T>A (p.Gly419=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48688286C>A | CA346746609 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1511G>T (p.Gly504Val) c.948-147G>T (n.948-147G>T) c.3441+16606C>A (n.3441+16606C>A) c.*255G>T (n.*255G>T) c.1430G>T (p.Gly477Val) c.276+16606C>A (n.276+16606C>A) c.*220+5938G>T (n.*220+5938G>T) c.554G>T (p.Gly185Val) c.581G>T (p.Gly194Val) c.1436G>T (p.Gly479Val) c.1250G>T (p.Gly417Val) c.1169G>T (p.Gly390Val) c.875G>T (p.Gly292Val) c.1256G>T (p.Gly419Val) | dbSNP gnomAD v4 |
2 | g.48688286C= | CA1248601061 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1511G= (p.Gly504=) c.948-147G= (n.948-147G=) c.3441+16606C= (n.3441+16606C=) c.*255G= (n.*255G=) c.1430G= (p.Gly477=) c.276+16606C= (n.276+16606C=) c.*220+5938G= (n.*220+5938G=) c.554G= (p.Gly185=) c.581G= (p.Gly194=) c.1436G= (p.Gly479=) c.1250G= (p.Gly417=) c.1169G= (p.Gly390=) c.875G= (p.Gly292=) c.1256G= (p.Gly419=) | |
2 | g.48688286C>G | CA346746605 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1511G>C (p.Gly504Ala) c.948-147G>C (n.948-147G>C) c.3441+16606C>G (n.3441+16606C>G) c.*255G>C (n.*255G>C) c.1430G>C (p.Gly477Ala) c.276+16606C>G (n.276+16606C>G) c.*220+5938G>C (n.*220+5938G>C) c.554G>C (p.Gly185Ala) c.581G>C (p.Gly194Ala) c.1436G>C (p.Gly479Ala) c.1250G>C (p.Gly417Ala) c.1169G>C (p.Gly390Ala) c.875G>C (p.Gly292Ala) c.1256G>C (p.Gly419Ala) | |
2 | g.48688286C>T | CA346746607 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1511G>A (p.Gly504Asp) c.948-147G>A (n.948-147G>A) c.3441+16606C>T (n.3441+16606C>T) c.*255G>A (n.*255G>A) c.1430G>A (p.Gly477Asp) c.276+16606C>T (n.276+16606C>T) c.*220+5938G>A (n.*220+5938G>A) c.554G>A (p.Gly185Asp) c.581G>A (p.Gly194Asp) c.1436G>A (p.Gly479Asp) c.1250G>A (p.Gly417Asp) c.1169G>A (p.Gly390Asp) c.875G>A (p.Gly292Asp) c.1256G>A (p.Gly419Asp) | |
2 | g.48688287C>A | CA346746614 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1510G>T (p.Gly504Cys) c.948-148G>T (n.948-148G>T) c.3441+16607C>A (n.3441+16607C>A) c.*254G>T (n.*254G>T) c.1429G>T (p.Gly477Cys) c.276+16607C>A (n.276+16607C>A) c.*220+5937G>T (n.*220+5937G>T) c.553G>T (p.Gly185Cys) c.580G>T (p.Gly194Cys) c.1435G>T (p.Gly479Cys) c.1249G>T (p.Gly417Cys) c.1168G>T (p.Gly390Cys) c.874G>T (p.Gly292Cys) c.1255G>T (p.Gly419Cys) | |
2 | g.48688287C= | CA1248601062 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1510G= (p.Gly504=) c.948-148G= (n.948-148G=) c.3441+16607C= (n.3441+16607C=) c.*254G= (n.*254G=) c.1429G= (p.Gly477=) c.276+16607C= (n.276+16607C=) c.*220+5937G= (n.*220+5937G=) c.553G= (p.Gly185=) c.580G= (p.Gly194=) c.1435G= (p.Gly479=) c.1249G= (p.Gly417=) c.1168G= (p.Gly390=) c.874G= (p.Gly292=) c.1255G= (p.Gly419=) | |
2 | g.48688287C>G | CA346746616 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1510G>C (p.Gly504Arg) c.948-148G>C (n.948-148G>C) c.3441+16607C>G (n.3441+16607C>G) c.*254G>C (n.*254G>C) c.1429G>C (p.Gly477Arg) c.276+16607C>G (n.276+16607C>G) c.*220+5937G>C (n.*220+5937G>C) c.553G>C (p.Gly185Arg) c.580G>C (p.Gly194Arg) c.1435G>C (p.Gly479Arg) c.1249G>C (p.Gly417Arg) c.1168G>C (p.Gly390Arg) c.874G>C (p.Gly292Arg) c.1255G>C (p.Gly419Arg) | gnomAD v4 |
2 | g.48688287C>T | CA1653021 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1510G>A (p.Gly504Ser) c.948-148G>A (n.948-148G>A) c.3441+16607C>T (n.3441+16607C>T) c.*254G>A (n.*254G>A) c.1429G>A (p.Gly477Ser) c.276+16607C>T (n.276+16607C>T) c.*220+5937G>A (n.*220+5937G>A) c.553G>A (p.Gly185Ser) c.580G>A (p.Gly194Ser) c.1435G>A (p.Gly479Ser) c.1249G>A (p.Gly417Ser) c.1168G>A (p.Gly390Ser) c.874G>A (p.Gly292Ser) c.1255G>A (p.Gly419Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.48688288G>A | CA1653022 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1509C>T (p.Val503=) c.948-149C>T (n.948-149C>T) c.3441+16608G>A (n.3441+16608G>A) c.*253C>T (n.*253C>T) c.1428C>T (p.Val476=) c.276+16608G>A (n.276+16608G>A) c.*220+5936C>T (n.*220+5936C>T) c.552C>T (p.Val184=) c.579C>T (p.Val193=) c.1434C>T (p.Val478=) c.1248C>T (p.Val416=) c.1167C>T (p.Val389=) c.873C>T (p.Val291=) c.1254C>T (p.Val418=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.48688288G>C | CA426124966 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1509C>G (p.Val503=) c.948-149C>G (n.948-149C>G) c.3441+16608G>C (n.3441+16608G>C) c.*253C>G (n.*253C>G) c.1428C>G (p.Val476=) c.276+16608G>C (n.276+16608G>C) c.*220+5936C>G (n.*220+5936C>G) c.552C>G (p.Val184=) c.579C>G (p.Val193=) c.1434C>G (p.Val478=) c.1248C>G (p.Val416=) c.1167C>G (p.Val389=) c.873C>G (p.Val291=) c.1254C>G (p.Val418=) | |
2 | g.48688288G= | CA1248601063 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1509C= (p.Val503=) c.948-149C= (n.948-149C=) c.3441+16608G= (n.3441+16608G=) c.*253C= (n.*253C=) c.1428C= (p.Val476=) c.276+16608G= (n.276+16608G=) c.*220+5936C= (n.*220+5936C=) c.552C= (p.Val184=) c.579C= (p.Val193=) c.1434C= (p.Val478=) c.1248C= (p.Val416=) c.1167C= (p.Val389=) c.873C= (p.Val291=) c.1254C= (p.Val418=) | |
2 | g.48688288G>T | CA426124967 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1509C>A (p.Val503=) c.948-149C>A (n.948-149C>A) c.3441+16608G>T (n.3441+16608G>T) c.*253C>A (n.*253C>A) c.1428C>A (p.Val476=) c.276+16608G>T (n.276+16608G>T) c.*220+5936C>A (n.*220+5936C>A) c.552C>A (p.Val184=) c.579C>A (p.Val193=) c.1434C>A (p.Val478=) c.1248C>A (p.Val416=) c.1167C>A (p.Val389=) c.873C>A (p.Val291=) c.1254C>A (p.Val418=) | |
2 | g.48688289A>C | CA346746629 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1508T>G (p.Val503Gly) c.948-150T>G (n.948-150T>G) c.3441+16609A>C (n.3441+16609A>C) c.*252T>G (n.*252T>G) c.1427T>G (p.Val476Gly) c.276+16609A>C (n.276+16609A>C) c.*220+5935T>G (n.*220+5935T>G) c.551T>G (p.Val184Gly) c.578T>G (p.Val193Gly) c.1433T>G (p.Val478Gly) c.1247T>G (p.Val416Gly) c.1166T>G (p.Val389Gly) c.872T>G (p.Val291Gly) c.1253T>G (p.Val418Gly) | |
2 | g.48688289A>G | CA346746631 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1508T>C (p.Val503Ala) c.948-150T>C (n.948-150T>C) c.3441+16609A>G (n.3441+16609A>G) c.*252T>C (n.*252T>C) c.1427T>C (p.Val476Ala) c.276+16609A>G (n.276+16609A>G) c.*220+5935T>C (n.*220+5935T>C) c.551T>C (p.Val184Ala) c.578T>C (p.Val193Ala) c.1433T>C (p.Val478Ala) c.1247T>C (p.Val416Ala) c.1166T>C (p.Val389Ala) c.872T>C (p.Val291Ala) c.1253T>C (p.Val418Ala) | |
2 | g.48688289A>T | CA346746632 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1508T>A (p.Val503Asp) c.948-150T>A (n.948-150T>A) c.3441+16609A>T (n.3441+16609A>T) c.*252T>A (n.*252T>A) c.1427T>A (p.Val476Asp) c.276+16609A>T (n.276+16609A>T) c.*220+5935T>A (n.*220+5935T>A) c.551T>A (p.Val184Asp) c.578T>A (p.Val193Asp) c.1433T>A (p.Val478Asp) c.1247T>A (p.Val416Asp) c.1166T>A (p.Val389Asp) c.872T>A (p.Val291Asp) c.1253T>A (p.Val418Asp) | |
2 | g.48688290del | CA2658992084 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1507del (p.Val503SerfsTer7) c.948-151del (n.948-151del) c.3441+16610del (n.3441+16610del) c.*251del (n.*251del) c.1426del (p.Val476SerfsTer7) c.276+16610del (n.276+16610del) c.*220+5934del (n.*220+5934del) c.550del (p.Val184SerfsTer7) c.577del (p.Val193SerfsTer7) c.1432del (p.Val478SerfsTer7) c.1246del (p.Val416SerfsTer7) c.1165del (p.Val389SerfsTer7) c.871del (p.Val291SerfsTer7) c.1252del (p.Val418SerfsTer7) | gnomAD v4 |
2 | g.48688290C>A | CA346746635 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1507G>T (p.Val503Phe) c.948-151G>T (n.948-151G>T) c.3441+16610C>A (n.3441+16610C>A) c.*251G>T (n.*251G>T) c.1426G>T (p.Val476Phe) c.276+16610C>A (n.276+16610C>A) c.*220+5934G>T (n.*220+5934G>T) c.550G>T (p.Val184Phe) c.577G>T (p.Val193Phe) c.1432G>T (p.Val478Phe) c.1246G>T (p.Val416Phe) c.1165G>T (p.Val389Phe) c.871G>T (p.Val291Phe) c.1252G>T (p.Val418Phe) | dbSNP |
2 | g.48688290C= | CA1248601064 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1507G= (p.Val503=) c.948-151G= (n.948-151G=) c.3441+16610C= (n.3441+16610C=) c.*251G= (n.*251G=) c.1426G= (p.Val476=) c.276+16610C= (n.276+16610C=) c.*220+5934G= (n.*220+5934G=) c.550G= (p.Val184=) c.577G= (p.Val193=) c.1432G= (p.Val478=) c.1246G= (p.Val416=) c.1165G= (p.Val389=) c.871G= (p.Val291=) c.1252G= (p.Val418=) | |
2 | g.48688290C>G | CA346746636 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1507G>C (p.Val503Leu) c.948-151G>C (n.948-151G>C) c.3441+16610C>G (n.3441+16610C>G) c.*251G>C (n.*251G>C) c.1426G>C (p.Val476Leu) c.276+16610C>G (n.276+16610C>G) c.*220+5934G>C (n.*220+5934G>C) c.550G>C (p.Val184Leu) c.577G>C (p.Val193Leu) c.1432G>C (p.Val478Leu) c.1246G>C (p.Val416Leu) c.1165G>C (p.Val389Leu) c.871G>C (p.Val291Leu) c.1252G>C (p.Val418Leu) | |
2 | g.48688290C>T | CA346746637 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1507G>A (p.Val503Ile) c.948-151G>A (n.948-151G>A) c.3441+16610C>T (n.3441+16610C>T) c.*251G>A (n.*251G>A) c.1426G>A (p.Val476Ile) c.276+16610C>T (n.276+16610C>T) c.*220+5934G>A (n.*220+5934G>A) c.550G>A (p.Val184Ile) c.577G>A (p.Val193Ile) c.1432G>A (p.Val478Ile) c.1246G>A (p.Val416Ile) c.1165G>A (p.Val389Ile) c.871G>A (p.Val291Ile) c.1252G>A (p.Val418Ile) | |
2 | g.48688291A>C | CA426124970 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1506T>G (p.Leu502=) c.948-152T>G (n.948-152T>G) c.3441+16611A>C (n.3441+16611A>C) c.*250T>G (n.*250T>G) c.1425T>G (p.Leu475=) c.276+16611A>C (n.276+16611A>C) c.*220+5933T>G (n.*220+5933T>G) c.549T>G (p.Leu183=) c.576T>G (p.Leu192=) c.1431T>G (p.Leu477=) c.1245T>G (p.Leu415=) c.1164T>G (p.Leu388=) c.870T>G (p.Leu290=) c.1251T>G (p.Leu417=) | |
2 | g.48688291A>G | CA426124972 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1506T>C (p.Leu502=) c.948-152T>C (n.948-152T>C) c.3441+16611A>G (n.3441+16611A>G) c.*250T>C (n.*250T>C) c.1425T>C (p.Leu475=) c.276+16611A>G (n.276+16611A>G) c.*220+5933T>C (n.*220+5933T>C) c.549T>C (p.Leu183=) c.576T>C (p.Leu192=) c.1431T>C (p.Leu477=) c.1245T>C (p.Leu415=) c.1164T>C (p.Leu388=) c.870T>C (p.Leu290=) c.1251T>C (p.Leu417=) | gnomAD v4 |
2 | g.48688291A>T | CA426124971 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1506T>A (p.Leu502=) c.948-152T>A (n.948-152T>A) c.3441+16611A>T (n.3441+16611A>T) c.*250T>A (n.*250T>A) c.1425T>A (p.Leu475=) c.276+16611A>T (n.276+16611A>T) c.*220+5933T>A (n.*220+5933T>A) c.549T>A (p.Leu183=) c.576T>A (p.Leu192=) c.1431T>A (p.Leu477=) c.1245T>A (p.Leu415=) c.1164T>A (p.Leu388=) c.870T>A (p.Leu290=) c.1251T>A (p.Leu417=) | |
2 | g.48688292A= | CA1248601065 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1505T= (p.Leu502=) c.948-153T= (n.948-153T=) c.3441+16612A= (n.3441+16612A=) c.*249T= (n.*249T=) c.1424T= (p.Leu475=) c.276+16612A= (n.276+16612A=) c.*220+5932T= (n.*220+5932T=) c.548T= (p.Leu183=) c.575T= (p.Leu192=) c.1430T= (p.Leu477=) c.1244T= (p.Leu415=) c.1163T= (p.Leu388=) c.869T= (p.Leu290=) c.1250T= (p.Leu417=) | |
2 | g.48688292A>C | CA346746638 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1505T>G (p.Leu502Arg) c.948-153T>G (n.948-153T>G) c.3441+16612A>C (n.3441+16612A>C) c.*249T>G (n.*249T>G) c.1424T>G (p.Leu475Arg) c.276+16612A>C (n.276+16612A>C) c.*220+5932T>G (n.*220+5932T>G) c.548T>G (p.Leu183Arg) c.575T>G (p.Leu192Arg) c.1430T>G (p.Leu477Arg) c.1244T>G (p.Leu415Arg) c.1163T>G (p.Leu388Arg) c.869T>G (p.Leu290Arg) c.1250T>G (p.Leu417Arg) | |
2 | g.48688292A>G | CA250650 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1505T>C (p.Leu502Pro) c.948-153T>C (n.948-153T>C) c.3441+16612A>G (n.3441+16612A>G) c.*249T>C (n.*249T>C) c.1424T>C (p.Leu475Pro) c.276+16612A>G (n.276+16612A>G) c.*220+5932T>C (n.*220+5932T>C) c.548T>C (p.Leu183Pro) c.575T>C (p.Leu192Pro) c.1430T>C (p.Leu477Pro) c.1244T>C (p.Leu415Pro) c.1163T>C (p.Leu388Pro) c.869T>C (p.Leu290Pro) c.1250T>C (p.Leu417Pro) | ClinVar dbSNP |
2 | g.48688292A>T | CA346746639 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1505T>A (p.Leu502His) c.948-153T>A (n.948-153T>A) c.3441+16612A>T (n.3441+16612A>T) c.*249T>A (n.*249T>A) c.1424T>A (p.Leu475His) c.276+16612A>T (n.276+16612A>T) c.*220+5932T>A (n.*220+5932T>A) c.548T>A (p.Leu183His) c.575T>A (p.Leu192His) c.1430T>A (p.Leu477His) c.1244T>A (p.Leu415His) c.1163T>A (p.Leu388His) c.869T>A (p.Leu290His) c.1250T>A (p.Leu417His) |