Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.48688082_48688087del | CA2658992080 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1713_1718del (p.Met571_Ala572del) c.*25_*30del (n.*25_*30del) c.3441+16402_3441+16407del (n.3441+16402_3441+16407del) c.*457_*462del (n.*457_*462del) c.1632_1637del (p.Met544_Ala545del) c.276+16402_276+16407del (n.276+16402_276+16407del) c.*220+6140_*220+6145del (n.*220+6140_*220+6145del) c.756_761del (p.Met252_Ala253del) c.783_788del (p.Met261_Ala262del) c.1638_1643del (p.Met546_Ala547del) c.1452_1457del (p.Met484_Ala485del) c.1371_1376del (p.Met457_Ala458del) c.1077_1082del (p.Met359_Ala360del) c.1458_1463del (p.Met486_Ala487del) | gnomAD v4 |
2 | g.48688082G>A | CA123920 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1715C>T (p.Ala572Val) c.*27C>T (n.*27C>T) c.3441+16402G>A (n.3441+16402G>A) c.*459C>T (n.*459C>T) c.1634C>T (p.Ala545Val) c.276+16402G>A (n.276+16402G>A) c.*220+6142C>T (n.*220+6142C>T) c.758C>T (p.Ala253Val) c.785C>T (p.Ala262Val) c.1640C>T (p.Ala547Val) c.1454C>T (p.Ala485Val) c.1373C>T (p.Ala458Val) c.1079C>T (p.Ala360Val) c.1460C>T (p.Ala487Val) | ClinVar dbSNP gnomAD v4 |
2 | g.48688082G>C | CA346745025 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1715C>G (p.Ala572Gly) c.*27C>G (n.*27C>G) c.3441+16402G>C (n.3441+16402G>C) c.*459C>G (n.*459C>G) c.1634C>G (p.Ala545Gly) c.276+16402G>C (n.276+16402G>C) c.*220+6142C>G (n.*220+6142C>G) c.758C>G (p.Ala253Gly) c.785C>G (p.Ala262Gly) c.1640C>G (p.Ala547Gly) c.1454C>G (p.Ala485Gly) c.1373C>G (p.Ala458Gly) c.1079C>G (p.Ala360Gly) c.1460C>G (p.Ala487Gly) | dbSNP |
2 | g.48688082G= | CA1248600981 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1715C= (p.Ala572=) c.*27C= (n.*27C=) c.3441+16402G= (n.3441+16402G=) c.*459C= (n.*459C=) c.1634C= (p.Ala545=) c.276+16402G= (n.276+16402G=) c.*220+6142C= (n.*220+6142C=) c.758C= (p.Ala253=) c.785C= (p.Ala262=) c.1640C= (p.Ala547=) c.1454C= (p.Ala485=) c.1373C= (p.Ala458=) c.1079C= (p.Ala360=) c.1460C= (p.Ala487=) | |
2 | g.48688082G>T | CA346745023 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1715C>A (p.Ala572Glu) c.*27C>A (n.*27C>A) c.3441+16402G>T (n.3441+16402G>T) c.*459C>A (n.*459C>A) c.1634C>A (p.Ala545Glu) c.276+16402G>T (n.276+16402G>T) c.*220+6142C>A (n.*220+6142C>A) c.758C>A (p.Ala253Glu) c.785C>A (p.Ala262Glu) c.1640C>A (p.Ala547Glu) c.1454C>A (p.Ala485Glu) c.1373C>A (p.Ala458Glu) c.1079C>A (p.Ala360Glu) c.1460C>A (p.Ala487Glu) | |
2 | g.48688083C>A | CA346745026 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1714G>T (p.Ala572Ser) c.*26G>T (n.*26G>T) c.3441+16403C>A (n.3441+16403C>A) c.*458G>T (n.*458G>T) c.1633G>T (p.Ala545Ser) c.276+16403C>A (n.276+16403C>A) c.*220+6141G>T (n.*220+6141G>T) c.757G>T (p.Ala253Ser) c.784G>T (p.Ala262Ser) c.1639G>T (p.Ala547Ser) c.1453G>T (p.Ala485Ser) c.1372G>T (p.Ala458Ser) c.1078G>T (p.Ala360Ser) c.1459G>T (p.Ala487Ser) | |
2 | g.48688083C>G | CA346745027 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1714G>C (p.Ala572Pro) c.*26G>C (n.*26G>C) c.3441+16403C>G (n.3441+16403C>G) c.*458G>C (n.*458G>C) c.1633G>C (p.Ala545Pro) c.276+16403C>G (n.276+16403C>G) c.*220+6141G>C (n.*220+6141G>C) c.757G>C (p.Ala253Pro) c.784G>C (p.Ala262Pro) c.1639G>C (p.Ala547Pro) c.1453G>C (p.Ala485Pro) c.1372G>C (p.Ala458Pro) c.1078G>C (p.Ala360Pro) c.1459G>C (p.Ala487Pro) | |
2 | g.48688083C>T | CA346745028 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1714G>A (p.Ala572Thr) c.*26G>A (n.*26G>A) c.3441+16403C>T (n.3441+16403C>T) c.*458G>A (n.*458G>A) c.1633G>A (p.Ala545Thr) c.276+16403C>T (n.276+16403C>T) c.*220+6141G>A (n.*220+6141G>A) c.757G>A (p.Ala253Thr) c.784G>A (p.Ala262Thr) c.1639G>A (p.Ala547Thr) c.1453G>A (p.Ala485Thr) c.1372G>A (p.Ala458Thr) c.1078G>A (p.Ala360Thr) c.1459G>A (p.Ala487Thr) | |
2 | g.48688084C>A | CA346745029 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1713G>T (p.Met571Ile) c.*25G>T (n.*25G>T) c.3441+16404C>A (n.3441+16404C>A) c.*457G>T (n.*457G>T) c.1632G>T (p.Met544Ile) c.276+16404C>A (n.276+16404C>A) c.*220+6140G>T (n.*220+6140G>T) c.756G>T (p.Met252Ile) c.783G>T (p.Met261Ile) c.1638G>T (p.Met546Ile) c.1452G>T (p.Met484Ile) c.1371G>T (p.Met457Ile) c.1077G>T (p.Met359Ile) c.1458G>T (p.Met486Ile) | ClinVar dbSNP |
2 | g.48688084C= | CA1248600982 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1713G= (p.Met571=) c.*25G= (n.*25G=) c.3441+16404C= (n.3441+16404C=) c.*457G= (n.*457G=) c.1632G= (p.Met544=) c.276+16404C= (n.276+16404C=) c.*220+6140G= (n.*220+6140G=) c.756G= (p.Met252=) c.783G= (p.Met261=) c.1638G= (p.Met546=) c.1452G= (p.Met484=) c.1371G= (p.Met457=) c.1077G= (p.Met359=) c.1458G= (p.Met486=) | |
2 | g.48688084C>G | CA346745030 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1713G>C (p.Met571Ile) c.*25G>C (n.*25G>C) c.3441+16404C>G (n.3441+16404C>G) c.*457G>C (n.*457G>C) c.1632G>C (p.Met544Ile) c.276+16404C>G (n.276+16404C>G) c.*220+6140G>C (n.*220+6140G>C) c.756G>C (p.Met252Ile) c.783G>C (p.Met261Ile) c.1638G>C (p.Met546Ile) c.1452G>C (p.Met484Ile) c.1371G>C (p.Met457Ile) c.1077G>C (p.Met359Ile) c.1458G>C (p.Met486Ile) | |
2 | g.48688084C>T | CA123917 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1713G>A (p.Met571Ile) c.*25G>A (n.*25G>A) c.3441+16404C>T (n.3441+16404C>T) c.*457G>A (n.*457G>A) c.1632G>A (p.Met544Ile) c.276+16404C>T (n.276+16404C>T) c.*220+6140G>A (n.*220+6140G>A) c.756G>A (p.Met252Ile) c.783G>A (p.Met261Ile) c.1638G>A (p.Met546Ile) c.1452G>A (p.Met484Ile) c.1371G>A (p.Met457Ile) c.1077G>A (p.Met359Ile) c.1458G>A (p.Met486Ile) | ClinVar dbSNP |
2 | g.48688085A= | CA1248600983 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1712T= (p.Met571=) c.*24T= (n.*24T=) c.3441+16405A= (n.3441+16405A=) c.*456T= (n.*456T=) c.1631T= (p.Met544=) c.276+16405A= (n.276+16405A=) c.*220+6139T= (n.*220+6139T=) c.755T= (p.Met252=) c.782T= (p.Met261=) c.1637T= (p.Met546=) c.1451T= (p.Met484=) c.1370T= (p.Met457=) c.1076T= (p.Met359=) c.1457T= (p.Met486=) | |
2 | g.48688085A>C | CA346745037 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1712T>G (p.Met571Arg) c.*24T>G (n.*24T>G) c.3441+16405A>C (n.3441+16405A>C) c.*456T>G (n.*456T>G) c.1631T>G (p.Met544Arg) c.276+16405A>C (n.276+16405A>C) c.*220+6139T>G (n.*220+6139T>G) c.755T>G (p.Met252Arg) c.782T>G (p.Met261Arg) c.1637T>G (p.Met546Arg) c.1451T>G (p.Met484Arg) c.1370T>G (p.Met457Arg) c.1076T>G (p.Met359Arg) c.1457T>G (p.Met486Arg) | |
2 | g.48688085A>G | CA346745032 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1712T>C (p.Met571Thr) c.*24T>C (n.*24T>C) c.3441+16405A>G (n.3441+16405A>G) c.*456T>C (n.*456T>C) c.1631T>C (p.Met544Thr) c.276+16405A>G (n.276+16405A>G) c.*220+6139T>C (n.*220+6139T>C) c.755T>C (p.Met252Thr) c.782T>C (p.Met261Thr) c.1637T>C (p.Met546Thr) c.1451T>C (p.Met484Thr) c.1370T>C (p.Met457Thr) c.1076T>C (p.Met359Thr) c.1457T>C (p.Met486Thr) | dbSNP gnomAD v4 COSMIC |
2 | g.48688085A>T | CA346745033 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1712T>A (p.Met571Lys) c.*24T>A (n.*24T>A) c.3441+16405A>T (n.3441+16405A>T) c.*456T>A (n.*456T>A) c.1631T>A (p.Met544Lys) c.276+16405A>T (n.276+16405A>T) c.*220+6139T>A (n.*220+6139T>A) c.755T>A (p.Met252Lys) c.782T>A (p.Met261Lys) c.1637T>A (p.Met546Lys) c.1451T>A (p.Met484Lys) c.1370T>A (p.Met457Lys) c.1076T>A (p.Met359Lys) c.1457T>A (p.Met486Lys) | |
2 | g.48688086T>A | CA346745039 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1711A>T (p.Met571Leu) c.*23A>T (n.*23A>T) c.3441+16406T>A (n.3441+16406T>A) c.*455A>T (n.*455A>T) c.1630A>T (p.Met544Leu) c.276+16406T>A (n.276+16406T>A) c.*220+6138A>T (n.*220+6138A>T) c.754A>T (p.Met252Leu) c.781A>T (p.Met261Leu) c.1636A>T (p.Met546Leu) c.1450A>T (p.Met484Leu) c.1369A>T (p.Met457Leu) c.1075A>T (p.Met359Leu) c.1456A>T (p.Met486Leu) | |
2 | g.48688086T>C | CA346745040 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1711A>G (p.Met571Val) c.*23A>G (n.*23A>G) c.3441+16406T>C (n.3441+16406T>C) c.*455A>G (n.*455A>G) c.1630A>G (p.Met544Val) c.276+16406T>C (n.276+16406T>C) c.*220+6138A>G (n.*220+6138A>G) c.754A>G (p.Met252Val) c.781A>G (p.Met261Val) c.1636A>G (p.Met546Val) c.1450A>G (p.Met484Val) c.1369A>G (p.Met457Val) c.1075A>G (p.Met359Val) c.1456A>G (p.Met486Val) | |
2 | g.48688086T>G | CA346745044 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1711A>C (p.Met571Leu) c.*23A>C (n.*23A>C) c.3441+16406T>G (n.3441+16406T>G) c.*455A>C (n.*455A>C) c.1630A>C (p.Met544Leu) c.276+16406T>G (n.276+16406T>G) c.*220+6138A>C (n.*220+6138A>C) c.754A>C (p.Met252Leu) c.781A>C (p.Met261Leu) c.1636A>C (p.Met546Leu) c.1450A>C (p.Met484Leu) c.1369A>C (p.Met457Leu) c.1075A>C (p.Met359Leu) c.1456A>C (p.Met486Leu) | |
2 | g.48688089del | CA2658992081 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1711del (p.Met571TrpfsTer?) c.*23del (n.*23del) c.3441+16409del (n.3441+16409del) c.*455del (n.*455del) c.1630del (p.Met544TrpfsTer?) c.276+16409del (n.276+16409del) c.*220+6138del (n.*220+6138del) c.754del (p.Met252TrpfsTer?) c.781del (p.Met261TrpfsTer?) c.1636del (p.Met546TrpfsTer?) c.1450del (p.Met484TrpfsTer?) c.1369del (p.Met457TrpfsTer?) c.1075del (p.Met359TrpfsTer?) c.1456del (p.Met486TrpfsTer?) | gnomAD v4 |
2 | g.48688087T>A | CA346745049 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1710A>T (p.Lys570Asn) c.*22A>T (n.*22A>T) c.3441+16407T>A (n.3441+16407T>A) c.*454A>T (n.*454A>T) c.1629A>T (p.Lys543Asn) c.276+16407T>A (n.276+16407T>A) c.*220+6137A>T (n.*220+6137A>T) c.753A>T (p.Lys251Asn) c.780A>T (p.Lys260Asn) c.1635A>T (p.Lys545Asn) c.1449A>T (p.Lys483Asn) c.1368A>T (p.Lys456Asn) c.1074A>T (p.Lys358Asn) c.1455A>T (p.Lys485Asn) | gnomAD v4 |
2 | g.48688087T>C | CA426124953 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1710A>G (p.Lys570=) c.*22A>G (n.*22A>G) c.3441+16407T>C (n.3441+16407T>C) c.*454A>G (n.*454A>G) c.1629A>G (p.Lys543=) c.276+16407T>C (n.276+16407T>C) c.*220+6137A>G (n.*220+6137A>G) c.753A>G (p.Lys251=) c.780A>G (p.Lys260=) c.1635A>G (p.Lys545=) c.1449A>G (p.Lys483=) c.1368A>G (p.Lys456=) c.1074A>G (p.Lys358=) c.1455A>G (p.Lys485=) | |
2 | g.48688087T>G | CA346745051 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1710A>C (p.Lys570Asn) c.*22A>C (n.*22A>C) c.3441+16407T>G (n.3441+16407T>G) c.*454A>C (n.*454A>C) c.1629A>C (p.Lys543Asn) c.276+16407T>G (n.276+16407T>G) c.*220+6137A>C (n.*220+6137A>C) c.753A>C (p.Lys251Asn) c.780A>C (p.Lys260Asn) c.1635A>C (p.Lys545Asn) c.1449A>C (p.Lys483Asn) c.1368A>C (p.Lys456Asn) c.1074A>C (p.Lys358Asn) c.1455A>C (p.Lys485Asn) | |
2 | g.48688088T>A | CA346745052 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1709A>T (p.Lys570Ile) c.*21A>T (n.*21A>T) c.3441+16408T>A (n.3441+16408T>A) c.*453A>T (n.*453A>T) c.1628A>T (p.Lys543Ile) c.276+16408T>A (n.276+16408T>A) c.*220+6136A>T (n.*220+6136A>T) c.752A>T (p.Lys251Ile) c.779A>T (p.Lys260Ile) c.1634A>T (p.Lys545Ile) c.1448A>T (p.Lys483Ile) c.1367A>T (p.Lys456Ile) c.1073A>T (p.Lys358Ile) c.1454A>T (p.Lys485Ile) | |
2 | g.48688088T>C | CA346745056 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1709A>G (p.Lys570Arg) c.*21A>G (n.*21A>G) c.3441+16408T>C (n.3441+16408T>C) c.*453A>G (n.*453A>G) c.1628A>G (p.Lys543Arg) c.276+16408T>C (n.276+16408T>C) c.*220+6136A>G (n.*220+6136A>G) c.752A>G (p.Lys251Arg) c.779A>G (p.Lys260Arg) c.1634A>G (p.Lys545Arg) c.1448A>G (p.Lys483Arg) c.1367A>G (p.Lys456Arg) c.1073A>G (p.Lys358Arg) c.1454A>G (p.Lys485Arg) | |
2 | g.48688088T>G | CA346745054 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1709A>C (p.Lys570Thr) c.*21A>C (n.*21A>C) c.3441+16408T>G (n.3441+16408T>G) c.*453A>C (n.*453A>C) c.1628A>C (p.Lys543Thr) c.276+16408T>G (n.276+16408T>G) c.*220+6136A>C (n.*220+6136A>C) c.752A>C (p.Lys251Thr) c.779A>C (p.Lys260Thr) c.1634A>C (p.Lys545Thr) c.1448A>C (p.Lys483Thr) c.1367A>C (p.Lys456Thr) c.1073A>C (p.Lys358Thr) c.1454A>C (p.Lys485Thr) | |
2 | g.48688089T>A | CA346745057 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1708A>T (p.Lys570Ter) c.*20A>T (n.*20A>T) c.3441+16409T>A (n.3441+16409T>A) c.*452A>T (n.*452A>T) c.1627A>T (p.Lys543Ter) c.276+16409T>A (n.276+16409T>A) c.*220+6135A>T (n.*220+6135A>T) c.751A>T (p.Lys251Ter) c.778A>T (p.Lys260Ter) c.1633A>T (p.Lys545Ter) c.1447A>T (p.Lys483Ter) c.1366A>T (p.Lys456Ter) c.1072A>T (p.Lys358Ter) c.1453A>T (p.Lys485Ter) | dbSNP |
2 | g.48688089T>C | CA346745059 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1708A>G (p.Lys570Glu) c.*20A>G (n.*20A>G) c.3441+16409T>C (n.3441+16409T>C) c.*452A>G (n.*452A>G) c.1627A>G (p.Lys543Glu) c.276+16409T>C (n.276+16409T>C) c.*220+6135A>G (n.*220+6135A>G) c.751A>G (p.Lys251Glu) c.778A>G (p.Lys260Glu) c.1633A>G (p.Lys545Glu) c.1447A>G (p.Lys483Glu) c.1366A>G (p.Lys456Glu) c.1072A>G (p.Lys358Glu) c.1453A>G (p.Lys485Glu) | |
2 | g.48688089T>G | CA346745065 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1708A>C (p.Lys570Gln) c.*20A>C (n.*20A>C) c.3441+16409T>G (n.3441+16409T>G) c.*452A>C (n.*452A>C) c.1627A>C (p.Lys543Gln) c.276+16409T>G (n.276+16409T>G) c.*220+6135A>C (n.*220+6135A>C) c.751A>C (p.Lys251Gln) c.778A>C (p.Lys260Gln) c.1633A>C (p.Lys545Gln) c.1447A>C (p.Lys483Gln) c.1366A>C (p.Lys456Gln) c.1072A>C (p.Lys358Gln) c.1453A>C (p.Lys485Gln) | gnomAD v4 |
2 | g.48688089T= | CA1248600984 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1708A= (p.Lys570=) c.*20A= (n.*20A=) c.3441+16409T= (n.3441+16409T=) c.*452A= (n.*452A=) c.1627A= (p.Lys543=) c.276+16409T= (n.276+16409T=) c.*220+6135A= (n.*220+6135A=) c.751A= (p.Lys251=) c.778A= (p.Lys260=) c.1633A= (p.Lys545=) c.1447A= (p.Lys483=) c.1366A= (p.Lys456=) c.1072A= (p.Lys358=) c.1453A= (p.Lys485=) | |
2 | g.48688090C>A | CA346745068 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1707G>T (p.Lys569Asn) c.*19G>T (n.*19G>T) c.3441+16410C>A (n.3441+16410C>A) c.*451G>T (n.*451G>T) c.1626G>T (p.Lys542Asn) c.276+16410C>A (n.276+16410C>A) c.*220+6134G>T (n.*220+6134G>T) c.750G>T (p.Lys250Asn) c.777G>T (p.Lys259Asn) c.1632G>T (p.Lys544Asn) c.1446G>T (p.Lys482Asn) c.1365G>T (p.Lys455Asn) c.1071G>T (p.Lys357Asn) c.1452G>T (p.Lys484Asn) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48688090C= | CA1248600985 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1707G= (p.Lys569=) c.*19G= (n.*19G=) c.3441+16410C= (n.3441+16410C=) c.*451G= (n.*451G=) c.1626G= (p.Lys542=) c.276+16410C= (n.276+16410C=) c.*220+6134G= (n.*220+6134G=) c.750G= (p.Lys250=) c.777G= (p.Lys259=) c.1632G= (p.Lys544=) c.1446G= (p.Lys482=) c.1365G= (p.Lys455=) c.1071G= (p.Lys357=) c.1452G= (p.Lys484=) | |
2 | g.48688090C>G | CA346745082 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1707G>C (p.Lys569Asn) c.*19G>C (n.*19G>C) c.3441+16410C>G (n.3441+16410C>G) c.*451G>C (n.*451G>C) c.1626G>C (p.Lys542Asn) c.276+16410C>G (n.276+16410C>G) c.*220+6134G>C (n.*220+6134G>C) c.750G>C (p.Lys250Asn) c.777G>C (p.Lys259Asn) c.1632G>C (p.Lys544Asn) c.1446G>C (p.Lys482Asn) c.1365G>C (p.Lys455Asn) c.1071G>C (p.Lys357Asn) c.1452G>C (p.Lys484Asn) | |
2 | g.48688090C>T | CA426124958 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1707G>A (p.Lys569=) c.*19G>A (n.*19G>A) c.3441+16410C>T (n.3441+16410C>T) c.*451G>A (n.*451G>A) c.1626G>A (p.Lys542=) c.276+16410C>T (n.276+16410C>T) c.*220+6134G>A (n.*220+6134G>A) c.750G>A (p.Lys250=) c.777G>A (p.Lys259=) c.1632G>A (p.Lys544=) c.1446G>A (p.Lys482=) c.1365G>A (p.Lys455=) c.1071G>A (p.Lys357=) c.1452G>A (p.Lys484=) | |
2 | g.48688091T>A | CA346745086 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1706A>T (p.Lys569Met) c.*18A>T (n.*18A>T) c.3441+16411T>A (n.3441+16411T>A) c.*450A>T (n.*450A>T) c.1625A>T (p.Lys542Met) c.276+16411T>A (n.276+16411T>A) c.*220+6133A>T (n.*220+6133A>T) c.749A>T (p.Lys250Met) c.776A>T (p.Lys259Met) c.1631A>T (p.Lys544Met) c.1445A>T (p.Lys482Met) c.1364A>T (p.Lys455Met) c.1070A>T (p.Lys357Met) c.1451A>T (p.Lys484Met) | |
2 | g.48688091T>C | CA346745087 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1706A>G (p.Lys569Arg) c.*18A>G (n.*18A>G) c.3441+16411T>C (n.3441+16411T>C) c.*450A>G (n.*450A>G) c.1625A>G (p.Lys542Arg) c.276+16411T>C (n.276+16411T>C) c.*220+6133A>G (n.*220+6133A>G) c.749A>G (p.Lys250Arg) c.776A>G (p.Lys259Arg) c.1631A>G (p.Lys544Arg) c.1445A>G (p.Lys482Arg) c.1364A>G (p.Lys455Arg) c.1070A>G (p.Lys357Arg) c.1451A>G (p.Lys484Arg) | gnomAD v4 |
2 | g.48688091T>G | CA346745089 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1706A>C (p.Lys569Thr) c.*18A>C (n.*18A>C) c.3441+16411T>G (n.3441+16411T>G) c.*450A>C (n.*450A>C) c.1625A>C (p.Lys542Thr) c.276+16411T>G (n.276+16411T>G) c.*220+6133A>C (n.*220+6133A>C) c.749A>C (p.Lys250Thr) c.776A>C (p.Lys259Thr) c.1631A>C (p.Lys544Thr) c.1445A>C (p.Lys482Thr) c.1364A>C (p.Lys455Thr) c.1070A>C (p.Lys357Thr) c.1451A>C (p.Lys484Thr) | |
2 | g.48688092T>A | CA346745091 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1705A>T (p.Lys569Ter) c.*17A>T (n.*17A>T) c.3441+16412T>A (n.3441+16412T>A) c.*449A>T (n.*449A>T) c.1624A>T (p.Lys542Ter) c.276+16412T>A (n.276+16412T>A) c.*220+6132A>T (n.*220+6132A>T) c.748A>T (p.Lys250Ter) c.775A>T (p.Lys259Ter) c.1630A>T (p.Lys544Ter) c.1444A>T (p.Lys482Ter) c.1363A>T (p.Lys455Ter) c.1069A>T (p.Lys357Ter) c.1450A>T (p.Lys484Ter) | |
2 | g.48688092T>C | CA346745092 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1705A>G (p.Lys569Glu) c.*17A>G (n.*17A>G) c.3441+16412T>C (n.3441+16412T>C) c.*449A>G (n.*449A>G) c.1624A>G (p.Lys542Glu) c.276+16412T>C (n.276+16412T>C) c.*220+6132A>G (n.*220+6132A>G) c.748A>G (p.Lys250Glu) c.775A>G (p.Lys259Glu) c.1630A>G (p.Lys544Glu) c.1444A>G (p.Lys482Glu) c.1363A>G (p.Lys455Glu) c.1069A>G (p.Lys357Glu) c.1450A>G (p.Lys484Glu) | |
2 | g.48688092T>G | CA346745095 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1705A>C (p.Lys569Gln) c.*17A>C (n.*17A>C) c.3441+16412T>G (n.3441+16412T>G) c.*449A>C (n.*449A>C) c.1624A>C (p.Lys542Gln) c.276+16412T>G (n.276+16412T>G) c.*220+6132A>C (n.*220+6132A>C) c.748A>C (p.Lys250Gln) c.775A>C (p.Lys259Gln) c.1630A>C (p.Lys544Gln) c.1444A>C (p.Lys482Gln) c.1363A>C (p.Lys455Gln) c.1069A>C (p.Lys357Gln) c.1450A>C (p.Lys484Gln) | |
2 | g.48688093A= | CA1248600986 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1704T= (p.Ala568=) c.*16T= (n.*16T=) c.3441+16413A= (n.3441+16413A=) c.*448T= (n.*448T=) c.1623T= (p.Ala541=) c.276+16413A= (n.276+16413A=) c.*220+6131T= (n.*220+6131T=) c.747T= (p.Ala249=) c.774T= (p.Ala258=) c.1629T= (p.Ala543=) c.1443T= (p.Ala481=) c.1362T= (p.Ala454=) c.1068T= (p.Ala356=) c.1449T= (p.Ala483=) | |
2 | g.48688093A>C | CA426124960 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1704T>G (p.Ala568=) c.*16T>G (n.*16T>G) c.3441+16413A>C (n.3441+16413A>C) c.*448T>G (n.*448T>G) c.1623T>G (p.Ala541=) c.276+16413A>C (n.276+16413A>C) c.*220+6131T>G (n.*220+6131T>G) c.747T>G (p.Ala249=) c.774T>G (p.Ala258=) c.1629T>G (p.Ala543=) c.1443T>G (p.Ala481=) c.1362T>G (p.Ala454=) c.1068T>G (p.Ala356=) c.1449T>G (p.Ala483=) | |
2 | g.48688093A>G | CA426124961 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1704T>C (p.Ala568=) c.*16T>C (n.*16T>C) c.3441+16413A>G (n.3441+16413A>G) c.*448T>C (n.*448T>C) c.1623T>C (p.Ala541=) c.276+16413A>G (n.276+16413A>G) c.*220+6131T>C (n.*220+6131T>C) c.747T>C (p.Ala249=) c.774T>C (p.Ala258=) c.1629T>C (p.Ala543=) c.1443T>C (p.Ala481=) c.1362T>C (p.Ala454=) c.1068T>C (p.Ala356=) c.1449T>C (p.Ala483=) | |
2 | g.48688093A>T | CA426124962 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1704T>A (p.Ala568=) c.*16T>A (n.*16T>A) c.3441+16413A>T (n.3441+16413A>T) c.*448T>A (n.*448T>A) c.1623T>A (p.Ala541=) c.276+16413A>T (n.276+16413A>T) c.*220+6131T>A (n.*220+6131T>A) c.747T>A (p.Ala249=) c.774T>A (p.Ala258=) c.1629T>A (p.Ala543=) c.1443T>A (p.Ala481=) c.1362T>A (p.Ala454=) c.1068T>A (p.Ala356=) c.1449T>A (p.Ala483=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48688094G>A | CA123933 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1703C>T (p.Ala568Val) c.*15C>T (n.*15C>T) c.3441+16414G>A (n.3441+16414G>A) c.*447C>T (n.*447C>T) c.1622C>T (p.Ala541Val) c.276+16414G>A (n.276+16414G>A) c.*220+6130C>T (n.*220+6130C>T) c.746C>T (p.Ala249Val) c.773C>T (p.Ala258Val) c.1628C>T (p.Ala543Val) c.1442C>T (p.Ala481Val) c.1361C>T (p.Ala454Val) c.1067C>T (p.Ala356Val) c.1448C>T (p.Ala483Val) | ClinVar dbSNP |
2 | g.48688094G>C | CA346745111 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1703C>G (p.Ala568Gly) c.*15C>G (n.*15C>G) c.3441+16414G>C (n.3441+16414G>C) c.*447C>G (n.*447C>G) c.1622C>G (p.Ala541Gly) c.276+16414G>C (n.276+16414G>C) c.*220+6130C>G (n.*220+6130C>G) c.746C>G (p.Ala249Gly) c.773C>G (p.Ala258Gly) c.1628C>G (p.Ala543Gly) c.1442C>G (p.Ala481Gly) c.1361C>G (p.Ala454Gly) c.1067C>G (p.Ala356Gly) c.1448C>G (p.Ala483Gly) | |
2 | g.48688094G= | CA1248600987 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1703C= (p.Ala568=) c.*15C= (n.*15C=) c.3441+16414G= (n.3441+16414G=) c.*447C= (n.*447C=) c.1622C= (p.Ala541=) c.276+16414G= (n.276+16414G=) c.*220+6130C= (n.*220+6130C=) c.746C= (p.Ala249=) c.773C= (p.Ala258=) c.1628C= (p.Ala543=) c.1442C= (p.Ala481=) c.1361C= (p.Ala454=) c.1067C= (p.Ala356=) c.1448C= (p.Ala483=) | |
2 | g.48688094G>T | CA346745104 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1703C>A (p.Ala568Asp) c.*15C>A (n.*15C>A) c.3441+16414G>T (n.3441+16414G>T) c.*447C>A (n.*447C>A) c.1622C>A (p.Ala541Asp) c.276+16414G>T (n.276+16414G>T) c.*220+6130C>A (n.*220+6130C>A) c.746C>A (p.Ala249Asp) c.773C>A (p.Ala258Asp) c.1628C>A (p.Ala543Asp) c.1442C>A (p.Ala481Asp) c.1361C>A (p.Ala454Asp) c.1067C>A (p.Ala356Asp) c.1448C>A (p.Ala483Asp) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48688095C>A | CA346745114 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1702G>T (p.Ala568Ser) c.*14G>T (n.*14G>T) c.3441+16415C>A (n.3441+16415C>A) c.*446G>T (n.*446G>T) c.1621G>T (p.Ala541Ser) c.276+16415C>A (n.276+16415C>A) c.*220+6129G>T (n.*220+6129G>T) c.745G>T (p.Ala249Ser) c.772G>T (p.Ala258Ser) c.1627G>T (p.Ala543Ser) c.1441G>T (p.Ala481Ser) c.1360G>T (p.Ala454Ser) c.1066G>T (p.Ala356Ser) c.1447G>T (p.Ala483Ser) | |
2 | g.48688095C>G | CA346745118 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1702G>C (p.Ala568Pro) c.*14G>C (n.*14G>C) c.3441+16415C>G (n.3441+16415C>G) c.*446G>C (n.*446G>C) c.1621G>C (p.Ala541Pro) c.276+16415C>G (n.276+16415C>G) c.*220+6129G>C (n.*220+6129G>C) c.745G>C (p.Ala249Pro) c.772G>C (p.Ala258Pro) c.1627G>C (p.Ala543Pro) c.1441G>C (p.Ala481Pro) c.1360G>C (p.Ala454Pro) c.1066G>C (p.Ala356Pro) c.1447G>C (p.Ala483Pro) |