Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.48688663C>A | CA346749482 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1134G>T (p.Met378Ile) c.948-524G>T (n.948-524G>T) c.3441+16983C>A (n.3441+16983C>A) c.948-80G>T (n.948-80G>T) c.1053G>T (p.Met351Ile) c.276+16983C>A (n.276+16983C>A) c.*220+5561G>T (n.*220+5561G>T) c.177G>T (p.Met59Ile) c.204G>T (p.Met68Ile) c.1059G>T (p.Met353Ile) c.873G>T (p.Met291Ile) c.792G>T (p.Met264Ile) c.498G>T (p.Met166Ile) c.879G>T (p.Met293Ile) | |
2 | g.48688663C>G | CA346749487 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1134G>C (p.Met378Ile) c.948-524G>C (n.948-524G>C) c.3441+16983C>G (n.3441+16983C>G) c.948-80G>C (n.948-80G>C) c.1053G>C (p.Met351Ile) c.276+16983C>G (n.276+16983C>G) c.*220+5561G>C (n.*220+5561G>C) c.177G>C (p.Met59Ile) c.204G>C (p.Met68Ile) c.1059G>C (p.Met353Ile) c.873G>C (p.Met291Ile) c.792G>C (p.Met264Ile) c.498G>C (p.Met166Ile) c.879G>C (p.Met293Ile) | |
2 | g.48688663C>T | CA346749485 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1134G>A (p.Met378Ile) c.948-524G>A (n.948-524G>A) c.3441+16983C>T (n.3441+16983C>T) c.948-80G>A (n.948-80G>A) c.1053G>A (p.Met351Ile) c.276+16983C>T (n.276+16983C>T) c.*220+5561G>A (n.*220+5561G>A) c.177G>A (p.Met59Ile) c.204G>A (p.Met68Ile) c.1059G>A (p.Met353Ile) c.873G>A (p.Met291Ile) c.792G>A (p.Met264Ile) c.498G>A (p.Met166Ile) c.879G>A (p.Met293Ile) | gnomAD v4 |
2 | g.48688664A= | CA1248601225 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1133T= (p.Met378=) c.948-525T= (n.948-525T=) c.3441+16984A= (n.3441+16984A=) c.948-81T= (n.948-81T=) c.1052T= (p.Met351=) c.276+16984A= (n.276+16984A=) c.*220+5560T= (n.*220+5560T=) c.176T= (p.Met59=) c.203T= (p.Met68=) c.1058T= (p.Met353=) c.872T= (p.Met291=) c.791T= (p.Met264=) c.497T= (p.Met166=) c.878T= (p.Met293=) | |
2 | g.48688664A>C | CA346749489 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1133T>G (p.Met378Arg) c.948-525T>G (n.948-525T>G) c.3441+16984A>C (n.3441+16984A>C) c.948-81T>G (n.948-81T>G) c.1052T>G (p.Met351Arg) c.276+16984A>C (n.276+16984A>C) c.*220+5560T>G (n.*220+5560T>G) c.176T>G (p.Met59Arg) c.203T>G (p.Met68Arg) c.1058T>G (p.Met353Arg) c.872T>G (p.Met291Arg) c.791T>G (p.Met264Arg) c.497T>G (p.Met166Arg) c.878T>G (p.Met293Arg) | |
2 | g.48688664A>G | CA46753248 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1133T>C (p.Met378Thr) c.948-525T>C (n.948-525T>C) c.3441+16984A>G (n.3441+16984A>G) c.948-81T>C (n.948-81T>C) c.1052T>C (p.Met351Thr) c.276+16984A>G (n.276+16984A>G) c.*220+5560T>C (n.*220+5560T>C) c.176T>C (p.Met59Thr) c.203T>C (p.Met68Thr) c.1058T>C (p.Met353Thr) c.872T>C (p.Met291Thr) c.791T>C (p.Met264Thr) c.497T>C (p.Met166Thr) c.878T>C (p.Met293Thr) | dbSNP |
2 | g.48688664A>T | CA346749493 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1133T>A (p.Met378Lys) c.948-525T>A (n.948-525T>A) c.3441+16984A>T (n.3441+16984A>T) c.948-81T>A (n.948-81T>A) c.1052T>A (p.Met351Lys) c.276+16984A>T (n.276+16984A>T) c.*220+5560T>A (n.*220+5560T>A) c.176T>A (p.Met59Lys) c.203T>A (p.Met68Lys) c.1058T>A (p.Met353Lys) c.872T>A (p.Met291Lys) c.791T>A (p.Met264Lys) c.497T>A (p.Met166Lys) c.878T>A (p.Met293Lys) | |
2 | g.48688665T>A | CA346749495 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1132A>T (p.Met378Leu) c.948-526A>T (n.948-526A>T) c.3441+16985T>A (n.3441+16985T>A) c.948-82A>T (n.948-82A>T) c.1051A>T (p.Met351Leu) c.276+16985T>A (n.276+16985T>A) c.*220+5559A>T (n.*220+5559A>T) c.175A>T (p.Met59Leu) c.202A>T (p.Met68Leu) c.1057A>T (p.Met353Leu) c.871A>T (p.Met291Leu) c.790A>T (p.Met264Leu) c.496A>T (p.Met166Leu) c.877A>T (p.Met293Leu) | |
2 | g.48688665T>C | CA346749499 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1132A>G (p.Met378Val) c.948-526A>G (n.948-526A>G) c.3441+16985T>C (n.3441+16985T>C) c.948-82A>G (n.948-82A>G) c.1051A>G (p.Met351Val) c.276+16985T>C (n.276+16985T>C) c.*220+5559A>G (n.*220+5559A>G) c.175A>G (p.Met59Val) c.202A>G (p.Met68Val) c.1057A>G (p.Met353Val) c.871A>G (p.Met291Val) c.790A>G (p.Met264Val) c.496A>G (p.Met166Val) c.877A>G (p.Met293Val) | |
2 | g.48688665T>G | CA346749501 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1132A>C (p.Met378Leu) c.948-526A>C (n.948-526A>C) c.3441+16985T>G (n.3441+16985T>G) c.948-82A>C (n.948-82A>C) c.1051A>C (p.Met351Leu) c.276+16985T>G (n.276+16985T>G) c.*220+5559A>C (n.*220+5559A>C) c.175A>C (p.Met59Leu) c.202A>C (p.Met68Leu) c.1057A>C (p.Met353Leu) c.871A>C (p.Met291Leu) c.790A>C (p.Met264Leu) c.496A>C (p.Met166Leu) c.877A>C (p.Met293Leu) | |
2 | g.48688666G>A | CA426124699 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1131C>T (p.Asn377=) c.948-527C>T (n.948-527C>T) c.3441+16986G>A (n.3441+16986G>A) c.948-83C>T (n.948-83C>T) c.1050C>T (p.Asn350=) c.276+16986G>A (n.276+16986G>A) c.*220+5558C>T (n.*220+5558C>T) c.174C>T (p.Asn58=) c.201C>T (p.Asn67=) c.1056C>T (p.Asn352=) c.870C>T (p.Asn290=) c.789C>T (p.Asn263=) c.495C>T (p.Asn165=) c.876C>T (p.Asn292=) | gnomAD v4 |
2 | g.48688666G>C | CA346749504 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1131C>G (p.Asn377Lys) c.948-527C>G (n.948-527C>G) c.3441+16986G>C (n.3441+16986G>C) c.948-83C>G (n.948-83C>G) c.1050C>G (p.Asn350Lys) c.276+16986G>C (n.276+16986G>C) c.*220+5558C>G (n.*220+5558C>G) c.174C>G (p.Asn58Lys) c.201C>G (p.Asn67Lys) c.1056C>G (p.Asn352Lys) c.870C>G (p.Asn290Lys) c.789C>G (p.Asn263Lys) c.495C>G (p.Asn165Lys) c.876C>G (p.Asn292Lys) | |
2 | g.48688666G>T | CA346749507 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1131C>A (p.Asn377Lys) c.948-527C>A (n.948-527C>A) c.3441+16986G>T (n.3441+16986G>T) c.948-83C>A (n.948-83C>A) c.1050C>A (p.Asn350Lys) c.276+16986G>T (n.276+16986G>T) c.*220+5558C>A (n.*220+5558C>A) c.174C>A (p.Asn58Lys) c.201C>A (p.Asn67Lys) c.1056C>A (p.Asn352Lys) c.870C>A (p.Asn290Lys) c.789C>A (p.Asn263Lys) c.495C>A (p.Asn165Lys) c.876C>A (p.Asn292Lys) | |
2 | g.48688667T>A | CA346749510 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1130A>T (p.Asn377Ile) c.948-528A>T (n.948-528A>T) c.3441+16987T>A (n.3441+16987T>A) c.948-84A>T (n.948-84A>T) c.1049A>T (p.Asn350Ile) c.276+16987T>A (n.276+16987T>A) c.*220+5557A>T (n.*220+5557A>T) c.173A>T (p.Asn58Ile) c.200A>T (p.Asn67Ile) c.1055A>T (p.Asn352Ile) c.869A>T (p.Asn290Ile) c.788A>T (p.Asn263Ile) c.494A>T (p.Asn165Ile) c.875A>T (p.Asn292Ile) | |
2 | g.48688667T>C | CA346749512 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1130A>G (p.Asn377Ser) c.948-528A>G (n.948-528A>G) c.3441+16987T>C (n.3441+16987T>C) c.948-84A>G (n.948-84A>G) c.1049A>G (p.Asn350Ser) c.276+16987T>C (n.276+16987T>C) c.*220+5557A>G (n.*220+5557A>G) c.173A>G (p.Asn58Ser) c.200A>G (p.Asn67Ser) c.1055A>G (p.Asn352Ser) c.869A>G (p.Asn290Ser) c.788A>G (p.Asn263Ser) c.494A>G (p.Asn165Ser) c.875A>G (p.Asn292Ser) | |
2 | g.48688667T>G | CA346749515 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1130A>C (p.Asn377Thr) c.948-528A>C (n.948-528A>C) c.3441+16987T>G (n.3441+16987T>G) c.948-84A>C (n.948-84A>C) c.1049A>C (p.Asn350Thr) c.276+16987T>G (n.276+16987T>G) c.*220+5557A>C (n.*220+5557A>C) c.173A>C (p.Asn58Thr) c.200A>C (p.Asn67Thr) c.1055A>C (p.Asn352Thr) c.869A>C (p.Asn290Thr) c.788A>C (p.Asn263Thr) c.494A>C (p.Asn165Thr) c.875A>C (p.Asn292Thr) | |
2 | g.48688669del | CA2699269267 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1130del (p.Asn377ThrfsTer2) c.948-528del (n.948-528del) c.3441+16989del (n.3441+16989del) c.948-84del (n.948-84del) c.1049del (p.Asn350ThrfsTer2) c.276+16989del (n.276+16989del) c.*220+5557del (n.*220+5557del) c.173del (p.Asn58ThrfsTer2) c.200del (p.Asn67ThrfsTer2) c.1055del (p.Asn352ThrfsTer2) c.869del (p.Asn290ThrfsTer2) c.788del (p.Asn263ThrfsTer2) c.494del (p.Asn165ThrfsTer2) c.875del (p.Asn292ThrfsTer2) | dbSNP |
2 | g.48688668T>A | CA346749517 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1129A>T (p.Asn377Tyr) c.948-529A>T (n.948-529A>T) c.3441+16988T>A (n.3441+16988T>A) c.948-85A>T (n.948-85A>T) c.1048A>T (p.Asn350Tyr) c.276+16988T>A (n.276+16988T>A) c.*220+5556A>T (n.*220+5556A>T) c.172A>T (p.Asn58Tyr) c.199A>T (p.Asn67Tyr) c.1054A>T (p.Asn352Tyr) c.868A>T (p.Asn290Tyr) c.787A>T (p.Asn263Tyr) c.493A>T (p.Asn165Tyr) c.874A>T (p.Asn292Tyr) | |
2 | g.48688668T>C | CA346749521 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1129A>G (p.Asn377Asp) c.948-529A>G (n.948-529A>G) c.3441+16988T>C (n.3441+16988T>C) c.948-85A>G (n.948-85A>G) c.1048A>G (p.Asn350Asp) c.276+16988T>C (n.276+16988T>C) c.*220+5556A>G (n.*220+5556A>G) c.172A>G (p.Asn58Asp) c.199A>G (p.Asn67Asp) c.1054A>G (p.Asn352Asp) c.868A>G (p.Asn290Asp) c.787A>G (p.Asn263Asp) c.493A>G (p.Asn165Asp) c.874A>G (p.Asn292Asp) | |
2 | g.48688668T>G | CA346749519 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1129A>C (p.Asn377His) c.948-529A>C (n.948-529A>C) c.3441+16988T>G (n.3441+16988T>G) c.948-85A>C (n.948-85A>C) c.1048A>C (p.Asn350His) c.276+16988T>G (n.276+16988T>G) c.*220+5556A>C (n.*220+5556A>C) c.172A>C (p.Asn58His) c.199A>C (p.Asn67His) c.1054A>C (p.Asn352His) c.868A>C (p.Asn290His) c.787A>C (p.Asn263His) c.493A>C (p.Asn165His) c.874A>C (p.Asn292His) | |
2 | g.48688669T>A | CA426124700 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1128A>T (p.Gly376=) c.948-530A>T (n.948-530A>T) c.3441+16989T>A (n.3441+16989T>A) c.948-86A>T (n.948-86A>T) c.1047A>T (p.Gly349=) c.276+16989T>A (n.276+16989T>A) c.*220+5555A>T (n.*220+5555A>T) c.171A>T (p.Gly57=) c.198A>T (p.Gly66=) c.1053A>T (p.Gly351=) c.867A>T (p.Gly289=) c.786A>T (p.Gly262=) c.492A>T (p.Gly164=) c.873A>T (p.Gly291=) | |
2 | g.48688669T>C | CA1653078 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1128A>G (p.Gly376=) c.948-530A>G (n.948-530A>G) c.3441+16989T>C (n.3441+16989T>C) c.948-86A>G (n.948-86A>G) c.1047A>G (p.Gly349=) c.276+16989T>C (n.276+16989T>C) c.*220+5555A>G (n.*220+5555A>G) c.171A>G (p.Gly57=) c.198A>G (p.Gly66=) c.1053A>G (p.Gly351=) c.867A>G (p.Gly289=) c.786A>G (p.Gly262=) c.492A>G (p.Gly164=) c.873A>G (p.Gly291=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688669T>G | CA426124701 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1128A>C (p.Gly376=) c.948-530A>C (n.948-530A>C) c.3441+16989T>G (n.3441+16989T>G) c.948-86A>C (n.948-86A>C) c.1047A>C (p.Gly349=) c.276+16989T>G (n.276+16989T>G) c.*220+5555A>C (n.*220+5555A>C) c.171A>C (p.Gly57=) c.198A>C (p.Gly66=) c.1053A>C (p.Gly351=) c.867A>C (p.Gly289=) c.786A>C (p.Gly262=) c.492A>C (p.Gly164=) c.873A>C (p.Gly291=) | |
2 | g.48688669T= | CA1248601226 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1128A= (p.Gly376=) c.948-530A= (n.948-530A=) c.3441+16989T= (n.3441+16989T=) c.948-86A= (n.948-86A=) c.1047A= (p.Gly349=) c.276+16989T= (n.276+16989T=) c.*220+5555A= (n.*220+5555A=) c.171A= (p.Gly57=) c.198A= (p.Gly66=) c.1053A= (p.Gly351=) c.867A= (p.Gly289=) c.786A= (p.Gly262=) c.492A= (p.Gly164=) c.873A= (p.Gly291=) | |
2 | g.48688670C>A | CA346749524 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1127G>T (p.Gly376Val) c.948-531G>T (n.948-531G>T) c.3441+16990C>A (n.3441+16990C>A) c.948-87G>T (n.948-87G>T) c.1046G>T (p.Gly349Val) c.276+16990C>A (n.276+16990C>A) c.*220+5554G>T (n.*220+5554G>T) c.170G>T (p.Gly57Val) c.197G>T (p.Gly66Val) c.1052G>T (p.Gly351Val) c.866G>T (p.Gly289Val) c.785G>T (p.Gly262Val) c.491G>T (p.Gly164Val) c.872G>T (p.Gly291Val) | |
2 | g.48688670C= | CA1248601227 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1127G= (p.Gly376=) c.948-531G= (n.948-531G=) c.3441+16990C= (n.3441+16990C=) c.948-87G= (n.948-87G=) c.1046G= (p.Gly349=) c.276+16990C= (n.276+16990C=) c.*220+5554G= (n.*220+5554G=) c.170G= (p.Gly57=) c.197G= (p.Gly66=) c.1052G= (p.Gly351=) c.866G= (p.Gly289=) c.785G= (p.Gly262=) c.491G= (p.Gly164=) c.872G= (p.Gly291=) | |
2 | g.48688670C>G | CA346749526 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1127G>C (p.Gly376Ala) c.948-531G>C (n.948-531G>C) c.3441+16990C>G (n.3441+16990C>G) c.948-87G>C (n.948-87G>C) c.1046G>C (p.Gly349Ala) c.276+16990C>G (n.276+16990C>G) c.*220+5554G>C (n.*220+5554G>C) c.170G>C (p.Gly57Ala) c.197G>C (p.Gly66Ala) c.1052G>C (p.Gly351Ala) c.866G>C (p.Gly289Ala) c.785G>C (p.Gly262Ala) c.491G>C (p.Gly164Ala) c.872G>C (p.Gly291Ala) | |
2 | g.48688670C>T | CA46753255 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1127G>A (p.Gly376Glu) c.948-531G>A (n.948-531G>A) c.3441+16990C>T (n.3441+16990C>T) c.948-87G>A (n.948-87G>A) c.1046G>A (p.Gly349Glu) c.276+16990C>T (n.276+16990C>T) c.*220+5554G>A (n.*220+5554G>A) c.170G>A (p.Gly57Glu) c.197G>A (p.Gly66Glu) c.1052G>A (p.Gly351Glu) c.866G>A (p.Gly289Glu) c.785G>A (p.Gly262Glu) c.491G>A (p.Gly164Glu) c.872G>A (p.Gly291Glu) | dbSNP COSMIC |
2 | g.48688671C>A | CA346749528 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1126G>T (p.Gly376Ter) c.948-532G>T (n.948-532G>T) c.3441+16991C>A (n.3441+16991C>A) c.948-88G>T (n.948-88G>T) c.1045G>T (p.Gly349Ter) c.276+16991C>A (n.276+16991C>A) c.*220+5553G>T (n.*220+5553G>T) c.169G>T (p.Gly57Ter) c.196G>T (p.Gly66Ter) c.1051G>T (p.Gly351Ter) c.865G>T (p.Gly289Ter) c.784G>T (p.Gly262Ter) c.490G>T (p.Gly164Ter) c.871G>T (p.Gly291Ter) | |
2 | g.48688671C>G | CA346749533 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1126G>C (p.Gly376Arg) c.948-532G>C (n.948-532G>C) c.3441+16991C>G (n.3441+16991C>G) c.948-88G>C (n.948-88G>C) c.1045G>C (p.Gly349Arg) c.276+16991C>G (n.276+16991C>G) c.*220+5553G>C (n.*220+5553G>C) c.169G>C (p.Gly57Arg) c.196G>C (p.Gly66Arg) c.1051G>C (p.Gly351Arg) c.865G>C (p.Gly289Arg) c.784G>C (p.Gly262Arg) c.490G>C (p.Gly164Arg) c.871G>C (p.Gly291Arg) | |
2 | g.48688671C>T | CA346749535 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1126G>A (p.Gly376Arg) c.948-532G>A (n.948-532G>A) c.3441+16991C>T (n.3441+16991C>T) c.948-88G>A (n.948-88G>A) c.1045G>A (p.Gly349Arg) c.276+16991C>T (n.276+16991C>T) c.*220+5553G>A (n.*220+5553G>A) c.169G>A (p.Gly57Arg) c.196G>A (p.Gly66Arg) c.1051G>A (p.Gly351Arg) c.865G>A (p.Gly289Arg) c.784G>A (p.Gly262Arg) c.490G>A (p.Gly164Arg) c.871G>A (p.Gly291Arg) | |
2 | g.48688672C>A | CA346749537 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1125G>T (p.Met375Ile) c.948-533G>T (n.948-533G>T) c.3441+16992C>A (n.3441+16992C>A) c.948-89G>T (n.948-89G>T) c.1044G>T (p.Met348Ile) c.276+16992C>A (n.276+16992C>A) c.*220+5552G>T (n.*220+5552G>T) c.168G>T (p.Met56Ile) c.195G>T (p.Met65Ile) c.1050G>T (p.Met350Ile) c.864G>T (p.Met288Ile) c.783G>T (p.Met261Ile) c.489G>T (p.Met163Ile) c.870G>T (p.Met290Ile) | dbSNP |
2 | g.48688672C>G | CA346749538 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1125G>C (p.Met375Ile) c.948-533G>C (n.948-533G>C) c.3441+16992C>G (n.3441+16992C>G) c.948-89G>C (n.948-89G>C) c.1044G>C (p.Met348Ile) c.276+16992C>G (n.276+16992C>G) c.*220+5552G>C (n.*220+5552G>C) c.168G>C (p.Met56Ile) c.195G>C (p.Met65Ile) c.1050G>C (p.Met350Ile) c.864G>C (p.Met288Ile) c.783G>C (p.Met261Ile) c.489G>C (p.Met163Ile) c.870G>C (p.Met290Ile) | |
2 | g.48688672C>T | CA346749540 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1125G>A (p.Met375Ile) c.948-533G>A (n.948-533G>A) c.3441+16992C>T (n.3441+16992C>T) c.948-89G>A (n.948-89G>A) c.1044G>A (p.Met348Ile) c.276+16992C>T (n.276+16992C>T) c.*220+5552G>A (n.*220+5552G>A) c.168G>A (p.Met56Ile) c.195G>A (p.Met65Ile) c.1050G>A (p.Met350Ile) c.864G>A (p.Met288Ile) c.783G>A (p.Met261Ile) c.489G>A (p.Met163Ile) c.870G>A (p.Met290Ile) | |
2 | g.48688673A= | CA1248601228 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1124T= (p.Met375=) c.948-534T= (n.948-534T=) c.3441+16993A= (n.3441+16993A=) c.948-90T= (n.948-90T=) c.1043T= (p.Met348=) c.276+16993A= (n.276+16993A=) c.*220+5551T= (n.*220+5551T=) c.167T= (p.Met56=) c.194T= (p.Met65=) c.1049T= (p.Met350=) c.863T= (p.Met288=) c.782T= (p.Met261=) c.488T= (p.Met163=) c.869T= (p.Met290=) | |
2 | g.48688673A>C | CA346749542 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1124T>G (p.Met375Arg) c.948-534T>G (n.948-534T>G) c.3441+16993A>C (n.3441+16993A>C) c.948-90T>G (n.948-90T>G) c.1043T>G (p.Met348Arg) c.276+16993A>C (n.276+16993A>C) c.*220+5551T>G (n.*220+5551T>G) c.167T>G (p.Met56Arg) c.194T>G (p.Met65Arg) c.1049T>G (p.Met350Arg) c.863T>G (p.Met288Arg) c.782T>G (p.Met261Arg) c.488T>G (p.Met163Arg) c.869T>G (p.Met290Arg) | |
2 | g.48688673A>G | CA346749545 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1124T>C (p.Met375Thr) c.948-534T>C (n.948-534T>C) c.3441+16993A>G (n.3441+16993A>G) c.948-90T>C (n.948-90T>C) c.1043T>C (p.Met348Thr) c.276+16993A>G (n.276+16993A>G) c.*220+5551T>C (n.*220+5551T>C) c.167T>C (p.Met56Thr) c.194T>C (p.Met65Thr) c.1049T>C (p.Met350Thr) c.863T>C (p.Met288Thr) c.782T>C (p.Met261Thr) c.488T>C (p.Met163Thr) c.869T>C (p.Met290Thr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48688673A>T | CA346749548 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1124T>A (p.Met375Lys) c.948-534T>A (n.948-534T>A) c.3441+16993A>T (n.3441+16993A>T) c.948-90T>A (n.948-90T>A) c.1043T>A (p.Met348Lys) c.276+16993A>T (n.276+16993A>T) c.*220+5551T>A (n.*220+5551T>A) c.167T>A (p.Met56Lys) c.194T>A (p.Met65Lys) c.1049T>A (p.Met350Lys) c.863T>A (p.Met288Lys) c.782T>A (p.Met261Lys) c.488T>A (p.Met163Lys) c.869T>A (p.Met290Lys) | |
2 | g.48688674T>A | CA346749555 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1123A>T (p.Met375Leu) c.948-535A>T (n.948-535A>T) c.3441+16994T>A (n.3441+16994T>A) c.948-91A>T (n.948-91A>T) c.1042A>T (p.Met348Leu) c.276+16994T>A (n.276+16994T>A) c.*220+5550A>T (n.*220+5550A>T) c.166A>T (p.Met56Leu) c.193A>T (p.Met65Leu) c.1048A>T (p.Met350Leu) c.862A>T (p.Met288Leu) c.781A>T (p.Met261Leu) c.487A>T (p.Met163Leu) c.868A>T (p.Met290Leu) | |
2 | g.48688674T>C | CA346749560 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1123A>G (p.Met375Val) c.948-535A>G (n.948-535A>G) c.3441+16994T>C (n.3441+16994T>C) c.948-91A>G (n.948-91A>G) c.1042A>G (p.Met348Val) c.276+16994T>C (n.276+16994T>C) c.*220+5550A>G (n.*220+5550A>G) c.166A>G (p.Met56Val) c.193A>G (p.Met65Val) c.1048A>G (p.Met350Val) c.862A>G (p.Met288Val) c.781A>G (p.Met261Val) c.487A>G (p.Met163Val) c.868A>G (p.Met290Val) | gnomAD v4 |
2 | g.48688674T>G | CA346749558 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1123A>C (p.Met375Leu) c.948-535A>C (n.948-535A>C) c.3441+16994T>G (n.3441+16994T>G) c.948-91A>C (n.948-91A>C) c.1042A>C (p.Met348Leu) c.276+16994T>G (n.276+16994T>G) c.*220+5550A>C (n.*220+5550A>C) c.166A>C (p.Met56Leu) c.193A>C (p.Met65Leu) c.1048A>C (p.Met350Leu) c.862A>C (p.Met288Leu) c.781A>C (p.Met261Leu) c.487A>C (p.Met163Leu) c.868A>C (p.Met290Leu) | |
2 | g.48688675G>A | CA426124705 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1122C>T (p.Ile374=) c.948-536C>T (n.948-536C>T) c.3441+16995G>A (n.3441+16995G>A) c.948-92C>T (n.948-92C>T) c.1041C>T (p.Ile347=) c.276+16995G>A (n.276+16995G>A) c.*220+5549C>T (n.*220+5549C>T) c.165C>T (p.Ile55=) c.192C>T (p.Ile64=) c.1047C>T (p.Ile349=) c.861C>T (p.Ile287=) c.780C>T (p.Ile260=) c.486C>T (p.Ile162=) c.867C>T (p.Ile289=) | |
2 | g.48688675G>C | CA346749563 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1122C>G (p.Ile374Met) c.948-536C>G (n.948-536C>G) c.3441+16995G>C (n.3441+16995G>C) c.948-92C>G (n.948-92C>G) c.1041C>G (p.Ile347Met) c.276+16995G>C (n.276+16995G>C) c.*220+5549C>G (n.*220+5549C>G) c.165C>G (p.Ile55Met) c.192C>G (p.Ile64Met) c.1047C>G (p.Ile349Met) c.861C>G (p.Ile287Met) c.780C>G (p.Ile260Met) c.486C>G (p.Ile162Met) c.867C>G (p.Ile289Met) | |
2 | g.48688675G>T | CA426124706 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1122C>A (p.Ile374=) c.948-536C>A (n.948-536C>A) c.3441+16995G>T (n.3441+16995G>T) c.948-92C>A (n.948-92C>A) c.1041C>A (p.Ile347=) c.276+16995G>T (n.276+16995G>T) c.*220+5549C>A (n.*220+5549C>A) c.165C>A (p.Ile55=) c.192C>A (p.Ile64=) c.1047C>A (p.Ile349=) c.861C>A (p.Ile287=) c.780C>A (p.Ile260=) c.486C>A (p.Ile162=) c.867C>A (p.Ile289=) | |
2 | g.48688676A= | CA1248601229 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1121T= (p.Ile374=) c.948-537T= (n.948-537T=) c.3441+16996A= (n.3441+16996A=) c.948-93T= (n.948-93T=) c.1040T= (p.Ile347=) c.276+16996A= (n.276+16996A=) c.*220+5548T= (n.*220+5548T=) c.164T= (p.Ile55=) c.191T= (p.Ile64=) c.1046T= (p.Ile349=) c.860T= (p.Ile287=) c.779T= (p.Ile260=) c.485T= (p.Ile162=) c.866T= (p.Ile289=) | |
2 | g.48688676A>C | CA346749566 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1121T>G (p.Ile374Ser) c.948-537T>G (n.948-537T>G) c.3441+16996A>C (n.3441+16996A>C) c.948-93T>G (n.948-93T>G) c.1040T>G (p.Ile347Ser) c.276+16996A>C (n.276+16996A>C) c.*220+5548T>G (n.*220+5548T>G) c.164T>G (p.Ile55Ser) c.191T>G (p.Ile64Ser) c.1046T>G (p.Ile349Ser) c.860T>G (p.Ile287Ser) c.779T>G (p.Ile260Ser) c.485T>G (p.Ile162Ser) c.866T>G (p.Ile289Ser) | |
2 | g.48688676A>G | CA346749569 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1121T>C (p.Ile374Thr) c.948-537T>C (n.948-537T>C) c.3441+16996A>G (n.3441+16996A>G) c.948-93T>C (n.948-93T>C) c.1040T>C (p.Ile347Thr) c.276+16996A>G (n.276+16996A>G) c.*220+5548T>C (n.*220+5548T>C) c.164T>C (p.Ile55Thr) c.191T>C (p.Ile64Thr) c.1046T>C (p.Ile349Thr) c.860T>C (p.Ile287Thr) c.779T>C (p.Ile260Thr) c.485T>C (p.Ile162Thr) c.866T>C (p.Ile289Thr) | dbSNP |
2 | g.48688676A>T | CA346749572 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1121T>A (p.Ile374Asn) c.948-537T>A (n.948-537T>A) c.3441+16996A>T (n.3441+16996A>T) c.948-93T>A (n.948-93T>A) c.1040T>A (p.Ile347Asn) c.276+16996A>T (n.276+16996A>T) c.*220+5548T>A (n.*220+5548T>A) c.164T>A (p.Ile55Asn) c.191T>A (p.Ile64Asn) c.1046T>A (p.Ile349Asn) c.860T>A (p.Ile287Asn) c.779T>A (p.Ile260Asn) c.485T>A (p.Ile162Asn) c.866T>A (p.Ile289Asn) | |
2 | g.48688677T>A | CA346749575 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1120A>T (p.Ile374Phe) c.948-538A>T (n.948-538A>T) c.3441+16997T>A (n.3441+16997T>A) c.948-94A>T (n.948-94A>T) c.1039A>T (p.Ile347Phe) c.276+16997T>A (n.276+16997T>A) c.*220+5547A>T (n.*220+5547A>T) c.163A>T (p.Ile55Phe) c.190A>T (p.Ile64Phe) c.1045A>T (p.Ile349Phe) c.859A>T (p.Ile287Phe) c.778A>T (p.Ile260Phe) c.484A>T (p.Ile162Phe) c.865A>T (p.Ile289Phe) | |
2 | g.48688677T>C | CA346749576 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1120A>G (p.Ile374Val) c.948-538A>G (n.948-538A>G) c.3441+16997T>C (n.3441+16997T>C) c.948-94A>G (n.948-94A>G) c.1039A>G (p.Ile347Val) c.276+16997T>C (n.276+16997T>C) c.*220+5547A>G (n.*220+5547A>G) c.163A>G (p.Ile55Val) c.190A>G (p.Ile64Val) c.1045A>G (p.Ile349Val) c.859A>G (p.Ile287Val) c.778A>G (p.Ile260Val) c.484A>G (p.Ile162Val) c.865A>G (p.Ile289Val) | |
2 | g.48688677T>G | CA346749578 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1120A>C (p.Ile374Leu) c.948-538A>C (n.948-538A>C) c.3441+16997T>G (n.3441+16997T>G) c.948-94A>C (n.948-94A>C) c.1039A>C (p.Ile347Leu) c.276+16997T>G (n.276+16997T>G) c.*220+5547A>C (n.*220+5547A>C) c.163A>C (p.Ile55Leu) c.190A>C (p.Ile64Leu) c.1045A>C (p.Ile349Leu) c.859A>C (p.Ile287Leu) c.778A>C (p.Ile260Leu) c.484A>C (p.Ile162Leu) c.865A>C (p.Ile289Leu) | |
2 | g.48688678G>A | CA426124708 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1119C>T (p.Ala373=) c.948-539C>T (n.948-539C>T) c.3441+16998G>A (n.3441+16998G>A) c.948-95C>T (n.948-95C>T) c.1038C>T (p.Ala346=) c.276+16998G>A (n.276+16998G>A) c.*220+5546C>T (n.*220+5546C>T) c.162C>T (p.Ala54=) c.189C>T (p.Ala63=) c.1044C>T (p.Ala348=) c.858C>T (p.Ala286=) c.777C>T (p.Ala259=) c.483C>T (p.Ala161=) c.864C>T (p.Ala288=) | |
2 | g.48688678G>C | CA426124709 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1119C>G (p.Ala373=) c.948-539C>G (n.948-539C>G) c.3441+16998G>C (n.3441+16998G>C) c.948-95C>G (n.948-95C>G) c.1038C>G (p.Ala346=) c.276+16998G>C (n.276+16998G>C) c.*220+5546C>G (n.*220+5546C>G) c.162C>G (p.Ala54=) c.189C>G (p.Ala63=) c.1044C>G (p.Ala348=) c.858C>G (p.Ala286=) c.777C>G (p.Ala259=) c.483C>G (p.Ala161=) c.864C>G (p.Ala288=) | |
2 | g.48688678G>T | CA426124710 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1119C>A (p.Ala373=) c.948-539C>A (n.948-539C>A) c.3441+16998G>T (n.3441+16998G>T) c.948-95C>A (n.948-95C>A) c.1038C>A (p.Ala346=) c.276+16998G>T (n.276+16998G>T) c.*220+5546C>A (n.*220+5546C>A) c.162C>A (p.Ala54=) c.189C>A (p.Ala63=) c.1044C>A (p.Ala348=) c.858C>A (p.Ala286=) c.777C>A (p.Ala259=) c.483C>A (p.Ala161=) c.864C>A (p.Ala288=) | |
2 | g.48688679G>A | CA123926 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1118C>T (p.Ala373Val) c.948-540C>T (n.948-540C>T) c.3441+16999G>A (n.3441+16999G>A) c.948-96C>T (n.948-96C>T) c.1037C>T (p.Ala346Val) c.276+16999G>A (n.276+16999G>A) c.*220+5545C>T (n.*220+5545C>T) c.161C>T (p.Ala54Val) c.188C>T (p.Ala63Val) c.1043C>T (p.Ala348Val) c.857C>T (p.Ala286Val) c.776C>T (p.Ala259Val) c.482C>T (p.Ala161Val) c.863C>T (p.Ala288Val) | ClinVar dbSNP |
2 | g.48688679G>C | CA346749581 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1118C>G (p.Ala373Gly) c.948-540C>G (n.948-540C>G) c.3441+16999G>C (n.3441+16999G>C) c.948-96C>G (n.948-96C>G) c.1037C>G (p.Ala346Gly) c.276+16999G>C (n.276+16999G>C) c.*220+5545C>G (n.*220+5545C>G) c.161C>G (p.Ala54Gly) c.188C>G (p.Ala63Gly) c.1043C>G (p.Ala348Gly) c.857C>G (p.Ala286Gly) c.776C>G (p.Ala259Gly) c.482C>G (p.Ala161Gly) c.863C>G (p.Ala288Gly) | |
2 | g.48688679G= | CA1248601230 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1118C= (p.Ala373=) c.948-540C= (n.948-540C=) c.3441+16999G= (n.3441+16999G=) c.948-96C= (n.948-96C=) c.1037C= (p.Ala346=) c.276+16999G= (n.276+16999G=) c.*220+5545C= (n.*220+5545C=) c.161C= (p.Ala54=) c.188C= (p.Ala63=) c.1043C= (p.Ala348=) c.857C= (p.Ala286=) c.776C= (p.Ala259=) c.482C= (p.Ala161=) c.863C= (p.Ala288=) | |
2 | g.48688679G>T | CA346749584 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1118C>A (p.Ala373Asp) c.948-540C>A (n.948-540C>A) c.3441+16999G>T (n.3441+16999G>T) c.948-96C>A (n.948-96C>A) c.1037C>A (p.Ala346Asp) c.276+16999G>T (n.276+16999G>T) c.*220+5545C>A (n.*220+5545C>A) c.161C>A (p.Ala54Asp) c.188C>A (p.Ala63Asp) c.1043C>A (p.Ala348Asp) c.857C>A (p.Ala286Asp) c.776C>A (p.Ala259Asp) c.482C>A (p.Ala161Asp) c.863C>A (p.Ala288Asp) | |
2 | g.48688680C>A | CA346749587 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1117G>T (p.Ala373Ser) c.948-541G>T (n.948-541G>T) c.3441+17000C>A (n.3441+17000C>A) c.948-97G>T (n.948-97G>T) c.1036G>T (p.Ala346Ser) c.276+17000C>A (n.276+17000C>A) c.*220+5544G>T (n.*220+5544G>T) c.160G>T (p.Ala54Ser) c.187G>T (p.Ala63Ser) c.1042G>T (p.Ala348Ser) c.856G>T (p.Ala286Ser) c.775G>T (p.Ala259Ser) c.481G>T (p.Ala161Ser) c.862G>T (p.Ala288Ser) | gnomAD v4 |
2 | g.48688680C>G | CA346749591 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1117G>C (p.Ala373Pro) c.948-541G>C (n.948-541G>C) c.3441+17000C>G (n.3441+17000C>G) c.948-97G>C (n.948-97G>C) c.1036G>C (p.Ala346Pro) c.276+17000C>G (n.276+17000C>G) c.*220+5544G>C (n.*220+5544G>C) c.160G>C (p.Ala54Pro) c.187G>C (p.Ala63Pro) c.1042G>C (p.Ala348Pro) c.856G>C (p.Ala286Pro) c.775G>C (p.Ala259Pro) c.481G>C (p.Ala161Pro) c.862G>C (p.Ala288Pro) | |
2 | g.48688680C>T | CA346749585 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1117G>A (p.Ala373Thr) c.948-541G>A (n.948-541G>A) c.3441+17000C>T (n.3441+17000C>T) c.948-97G>A (n.948-97G>A) c.1036G>A (p.Ala346Thr) c.276+17000C>T (n.276+17000C>T) c.*220+5544G>A (n.*220+5544G>A) c.160G>A (p.Ala54Thr) c.187G>A (p.Ala63Thr) c.1042G>A (p.Ala348Thr) c.856G>A (p.Ala286Thr) c.775G>A (p.Ala259Thr) c.481G>A (p.Ala161Thr) c.862G>A (p.Ala288Thr) | gnomAD v4 |
2 | g.48688681T>A | CA426124713 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1116A>T (p.Leu372=) c.948-542A>T (n.948-542A>T) c.3441+17001T>A (n.3441+17001T>A) c.948-98A>T (n.948-98A>T) c.1035A>T (p.Leu345=) c.276+17001T>A (n.276+17001T>A) c.*220+5543A>T (n.*220+5543A>T) c.159A>T (p.Leu53=) c.186A>T (p.Leu62=) c.1041A>T (p.Leu347=) c.855A>T (p.Leu285=) c.774A>T (p.Leu258=) c.480A>T (p.Leu160=) c.861A>T (p.Leu287=) | gnomAD v4 |
2 | g.48688681T>C | CA426124714 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1116A>G (p.Leu372=) c.948-542A>G (n.948-542A>G) c.3441+17001T>C (n.3441+17001T>C) c.948-98A>G (n.948-98A>G) c.1035A>G (p.Leu345=) c.276+17001T>C (n.276+17001T>C) c.*220+5543A>G (n.*220+5543A>G) c.159A>G (p.Leu53=) c.186A>G (p.Leu62=) c.1041A>G (p.Leu347=) c.855A>G (p.Leu285=) c.774A>G (p.Leu258=) c.480A>G (p.Leu160=) c.861A>G (p.Leu287=) | |
2 | g.48688681T>G | CA426124715 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1116A>C (p.Leu372=) c.948-542A>C (n.948-542A>C) c.3441+17001T>G (n.3441+17001T>G) c.948-98A>C (n.948-98A>C) c.1035A>C (p.Leu345=) c.276+17001T>G (n.276+17001T>G) c.*220+5543A>C (n.*220+5543A>C) c.159A>C (p.Leu53=) c.186A>C (p.Leu62=) c.1041A>C (p.Leu347=) c.855A>C (p.Leu285=) c.774A>C (p.Leu258=) c.480A>C (p.Leu160=) c.861A>C (p.Leu287=) | |
2 | g.48688683_48688687del | CA2658992087 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1112_1116del (p.Ile371SerfsTer?) c.948-546_948-542del (n.948-546_948-542del) c.3441+17003_3441+17007del (n.3441+17003_3441+17007del) c.948-102_948-98del (n.948-102_948-98del) c.1031_1035del (p.Ile344SerfsTer?) c.276+17003_276+17007del (n.276+17003_276+17007del) c.*220+5539_*220+5543del (n.*220+5539_*220+5543del) c.155_159del (p.Ile52SerfsTer?) c.182_186del (p.Ile61SerfsTer?) c.1037_1041del (p.Ile346SerfsTer?) c.851_855del (p.Ile284SerfsTer?) c.770_774del (p.Ile257SerfsTer?) c.476_480del (p.Ile159SerfsTer?) c.857_861del (p.Ile286SerfsTer?) | gnomAD v4 |
2 | g.48688682A>C | CA346749600 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1115T>G (p.Leu372Arg) c.948-543T>G (n.948-543T>G) c.3441+17002A>C (n.3441+17002A>C) c.948-99T>G (n.948-99T>G) c.1034T>G (p.Leu345Arg) c.276+17002A>C (n.276+17002A>C) c.*220+5542T>G (n.*220+5542T>G) c.158T>G (p.Leu53Arg) c.185T>G (p.Leu62Arg) c.1040T>G (p.Leu347Arg) c.854T>G (p.Leu285Arg) c.773T>G (p.Leu258Arg) c.479T>G (p.Leu160Arg) c.860T>G (p.Leu287Arg) | |
2 | g.48688682A>G | CA346749595 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1115T>C (p.Leu372Pro) c.948-543T>C (n.948-543T>C) c.3441+17002A>G (n.3441+17002A>G) c.948-99T>C (n.948-99T>C) c.1034T>C (p.Leu345Pro) c.276+17002A>G (n.276+17002A>G) c.*220+5542T>C (n.*220+5542T>C) c.158T>C (p.Leu53Pro) c.185T>C (p.Leu62Pro) c.1040T>C (p.Leu347Pro) c.854T>C (p.Leu285Pro) c.773T>C (p.Leu258Pro) c.479T>C (p.Leu160Pro) c.860T>C (p.Leu287Pro) | |
2 | g.48688682A>T | CA346749598 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1115T>A (p.Leu372Gln) c.948-543T>A (n.948-543T>A) c.3441+17002A>T (n.3441+17002A>T) c.948-99T>A (n.948-99T>A) c.1034T>A (p.Leu345Gln) c.276+17002A>T (n.276+17002A>T) c.*220+5542T>A (n.*220+5542T>A) c.158T>A (p.Leu53Gln) c.185T>A (p.Leu62Gln) c.1040T>A (p.Leu347Gln) c.854T>A (p.Leu285Gln) c.773T>A (p.Leu258Gln) c.479T>A (p.Leu160Gln) c.860T>A (p.Leu287Gln) | |
2 | g.48688683G>A | CA426124716 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1114C>T (p.Leu372=) c.948-544C>T (n.948-544C>T) c.3441+17003G>A (n.3441+17003G>A) c.948-100C>T (n.948-100C>T) c.1033C>T (p.Leu345=) c.276+17003G>A (n.276+17003G>A) c.*220+5541C>T (n.*220+5541C>T) c.157C>T (p.Leu53=) c.184C>T (p.Leu62=) c.1039C>T (p.Leu347=) c.853C>T (p.Leu285=) c.772C>T (p.Leu258=) c.478C>T (p.Leu160=) c.859C>T (p.Leu287=) | |
2 | g.48688683G>C | CA346749603 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1114C>G (p.Leu372Val) c.948-544C>G (n.948-544C>G) c.3441+17003G>C (n.3441+17003G>C) c.948-100C>G (n.948-100C>G) c.1033C>G (p.Leu345Val) c.276+17003G>C (n.276+17003G>C) c.*220+5541C>G (n.*220+5541C>G) c.157C>G (p.Leu53Val) c.184C>G (p.Leu62Val) c.1039C>G (p.Leu347Val) c.853C>G (p.Leu285Val) c.772C>G (p.Leu258Val) c.478C>G (p.Leu160Val) c.859C>G (p.Leu287Val) | |
2 | g.48688683G>T | CA346749606 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1114C>A (p.Leu372Ile) c.948-544C>A (n.948-544C>A) c.3441+17003G>T (n.3441+17003G>T) c.948-100C>A (n.948-100C>A) c.1033C>A (p.Leu345Ile) c.276+17003G>T (n.276+17003G>T) c.*220+5541C>A (n.*220+5541C>A) c.157C>A (p.Leu53Ile) c.184C>A (p.Leu62Ile) c.1039C>A (p.Leu347Ile) c.853C>A (p.Leu285Ile) c.772C>A (p.Leu258Ile) c.478C>A (p.Leu160Ile) c.859C>A (p.Leu287Ile) | |
2 | g.48688684A= | CA1248601231 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1113T= (p.Ile371=) c.948-545T= (n.948-545T=) c.3441+17004A= (n.3441+17004A=) c.948-101T= (n.948-101T=) c.1032T= (p.Ile344=) c.276+17004A= (n.276+17004A=) c.*220+5540T= (n.*220+5540T=) c.156T= (p.Ile52=) c.183T= (p.Ile61=) c.1038T= (p.Ile346=) c.852T= (p.Ile284=) c.771T= (p.Ile257=) c.477T= (p.Ile159=) c.858T= (p.Ile286=) | |
2 | g.48688684A>C | CA346749609 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1113T>G (p.Ile371Met) c.948-545T>G (n.948-545T>G) c.3441+17004A>C (n.3441+17004A>C) c.948-101T>G (n.948-101T>G) c.1032T>G (p.Ile344Met) c.276+17004A>C (n.276+17004A>C) c.*220+5540T>G (n.*220+5540T>G) c.156T>G (p.Ile52Met) c.183T>G (p.Ile61Met) c.1038T>G (p.Ile346Met) c.852T>G (p.Ile284Met) c.771T>G (p.Ile257Met) c.477T>G (p.Ile159Met) c.858T>G (p.Ile286Met) | |
2 | g.48688684A>G | CA1653079 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1113T>C (p.Ile371=) c.948-545T>C (n.948-545T>C) c.3441+17004A>G (n.3441+17004A>G) c.948-101T>C (n.948-101T>C) c.1032T>C (p.Ile344=) c.276+17004A>G (n.276+17004A>G) c.*220+5540T>C (n.*220+5540T>C) c.156T>C (p.Ile52=) c.183T>C (p.Ile61=) c.1038T>C (p.Ile346=) c.852T>C (p.Ile284=) c.771T>C (p.Ile257=) c.477T>C (p.Ile159=) c.858T>C (p.Ile286=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688684A>T | CA426124718 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1113T>A (p.Ile371=) c.948-545T>A (n.948-545T>A) c.3441+17004A>T (n.3441+17004A>T) c.948-101T>A (n.948-101T>A) c.1032T>A (p.Ile344=) c.276+17004A>T (n.276+17004A>T) c.*220+5540T>A (n.*220+5540T>A) c.156T>A (p.Ile52=) c.183T>A (p.Ile61=) c.1038T>A (p.Ile346=) c.852T>A (p.Ile284=) c.771T>A (p.Ile257=) c.477T>A (p.Ile159=) c.858T>A (p.Ile286=) | |
2 | g.48688685A= | CA1248601232 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1112T= (p.Ile371=) c.948-546T= (n.948-546T=) c.3441+17005A= (n.3441+17005A=) c.948-102T= (n.948-102T=) c.1031T= (p.Ile344=) c.276+17005A= (n.276+17005A=) c.*220+5539T= (n.*220+5539T=) c.155T= (p.Ile52=) c.182T= (p.Ile61=) c.1037T= (p.Ile346=) c.851T= (p.Ile284=) c.770T= (p.Ile257=) c.476T= (p.Ile159=) c.857T= (p.Ile286=) | |
2 | g.48688685A>C | CA346749612 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1112T>G (p.Ile371Ser) c.948-546T>G (n.948-546T>G) c.3441+17005A>C (n.3441+17005A>C) c.948-102T>G (n.948-102T>G) c.1031T>G (p.Ile344Ser) c.276+17005A>C (n.276+17005A>C) c.*220+5539T>G (n.*220+5539T>G) c.155T>G (p.Ile52Ser) c.182T>G (p.Ile61Ser) c.1037T>G (p.Ile346Ser) c.851T>G (p.Ile284Ser) c.770T>G (p.Ile257Ser) c.476T>G (p.Ile159Ser) c.857T>G (p.Ile286Ser) | |
2 | g.48688685A>G | CA346749614 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1112T>C (p.Ile371Thr) c.948-546T>C (n.948-546T>C) c.3441+17005A>G (n.3441+17005A>G) c.948-102T>C (n.948-102T>C) c.1031T>C (p.Ile344Thr) c.276+17005A>G (n.276+17005A>G) c.*220+5539T>C (n.*220+5539T>C) c.155T>C (p.Ile52Thr) c.182T>C (p.Ile61Thr) c.1037T>C (p.Ile346Thr) c.851T>C (p.Ile284Thr) c.770T>C (p.Ile257Thr) c.476T>C (p.Ile159Thr) c.857T>C (p.Ile286Thr) | dbSNP gnomAD v4 |
2 | g.48688685A>T | CA346749615 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1112T>A (p.Ile371Asn) c.948-546T>A (n.948-546T>A) c.3441+17005A>T (n.3441+17005A>T) c.948-102T>A (n.948-102T>A) c.1031T>A (p.Ile344Asn) c.276+17005A>T (n.276+17005A>T) c.*220+5539T>A (n.*220+5539T>A) c.155T>A (p.Ile52Asn) c.182T>A (p.Ile61Asn) c.1037T>A (p.Ile346Asn) c.851T>A (p.Ile284Asn) c.770T>A (p.Ile257Asn) c.476T>A (p.Ile159Asn) c.857T>A (p.Ile286Asn) | |
2 | g.48688686T>A | CA346749617 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1111A>T (p.Ile371Phe) c.948-547A>T (n.948-547A>T) c.3441+17006T>A (n.3441+17006T>A) c.948-103A>T (n.948-103A>T) c.1030A>T (p.Ile344Phe) c.276+17006T>A (n.276+17006T>A) c.*220+5538A>T (n.*220+5538A>T) c.154A>T (p.Ile52Phe) c.181A>T (p.Ile61Phe) c.1036A>T (p.Ile346Phe) c.850A>T (p.Ile284Phe) c.769A>T (p.Ile257Phe) c.475A>T (p.Ile159Phe) c.856A>T (p.Ile286Phe) | |
2 | g.48688686T>C | CA346749620 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1111A>G (p.Ile371Val) c.948-547A>G (n.948-547A>G) c.3441+17006T>C (n.3441+17006T>C) c.948-103A>G (n.948-103A>G) c.1030A>G (p.Ile344Val) c.276+17006T>C (n.276+17006T>C) c.*220+5538A>G (n.*220+5538A>G) c.154A>G (p.Ile52Val) c.181A>G (p.Ile61Val) c.1036A>G (p.Ile346Val) c.850A>G (p.Ile284Val) c.769A>G (p.Ile257Val) c.475A>G (p.Ile159Val) c.856A>G (p.Ile286Val) | |
2 | g.48688686T>G | CA346749622 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1111A>C (p.Ile371Leu) c.948-547A>C (n.948-547A>C) c.3441+17006T>G (n.3441+17006T>G) c.948-103A>C (n.948-103A>C) c.1030A>C (p.Ile344Leu) c.276+17006T>G (n.276+17006T>G) c.*220+5538A>C (n.*220+5538A>C) c.154A>C (p.Ile52Leu) c.181A>C (p.Ile61Leu) c.1036A>C (p.Ile346Leu) c.850A>C (p.Ile284Leu) c.769A>C (p.Ile257Leu) c.475A>C (p.Ile159Leu) c.856A>C (p.Ile286Leu) | |
2 | g.48688687A= | CA1248601233 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1110T= (p.Asn370=) c.948-548T= (n.948-548T=) c.3441+17007A= (n.3441+17007A=) c.948-104T= (n.948-104T=) c.1029T= (p.Asn343=) c.276+17007A= (n.276+17007A=) c.*220+5537T= (n.*220+5537T=) c.153T= (p.Asn51=) c.180T= (p.Asn60=) c.1035T= (p.Asn345=) c.849T= (p.Asn283=) c.768T= (p.Asn256=) c.474T= (p.Asn158=) c.855T= (p.Asn285=) | |
2 | g.48688687A>C | CA346749625 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1110T>G (p.Asn370Lys) c.948-548T>G (n.948-548T>G) c.3441+17007A>C (n.3441+17007A>C) c.948-104T>G (n.948-104T>G) c.1029T>G (p.Asn343Lys) c.276+17007A>C (n.276+17007A>C) c.*220+5537T>G (n.*220+5537T>G) c.153T>G (p.Asn51Lys) c.180T>G (p.Asn60Lys) c.1035T>G (p.Asn345Lys) c.849T>G (p.Asn283Lys) c.768T>G (p.Asn256Lys) c.474T>G (p.Asn158Lys) c.855T>G (p.Asn285Lys) | |
2 | g.48688687A>G | CA1653080 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1110T>C (p.Asn370=) c.948-548T>C (n.948-548T>C) c.3441+17007A>G (n.3441+17007A>G) c.948-104T>C (n.948-104T>C) c.1029T>C (p.Asn343=) c.276+17007A>G (n.276+17007A>G) c.*220+5537T>C (n.*220+5537T>C) c.153T>C (p.Asn51=) c.180T>C (p.Asn60=) c.1035T>C (p.Asn345=) c.849T>C (p.Asn283=) c.768T>C (p.Asn256=) c.474T>C (p.Asn158=) c.855T>C (p.Asn285=) | dbSNP ExAC gnomAD v2 |
2 | g.48688687A>T | CA346749624 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1110T>A (p.Asn370Lys) c.948-548T>A (n.948-548T>A) c.3441+17007A>T (n.3441+17007A>T) c.948-104T>A (n.948-104T>A) c.1029T>A (p.Asn343Lys) c.276+17007A>T (n.276+17007A>T) c.*220+5537T>A (n.*220+5537T>A) c.153T>A (p.Asn51Lys) c.180T>A (p.Asn60Lys) c.1035T>A (p.Asn345Lys) c.849T>A (p.Asn283Lys) c.768T>A (p.Asn256Lys) c.474T>A (p.Asn158Lys) c.855T>A (p.Asn285Lys) | |
2 | g.48688688T>A | CA346749626 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1109A>T (p.Asn370Ile) c.948-549A>T (n.948-549A>T) c.3441+17008T>A (n.3441+17008T>A) c.948-105A>T (n.948-105A>T) c.1028A>T (p.Asn343Ile) c.276+17008T>A (n.276+17008T>A) c.*220+5536A>T (n.*220+5536A>T) c.152A>T (p.Asn51Ile) c.179A>T (p.Asn60Ile) c.1034A>T (p.Asn345Ile) c.848A>T (p.Asn283Ile) c.767A>T (p.Asn256Ile) c.473A>T (p.Asn158Ile) c.854A>T (p.Asn285Ile) | |
2 | g.48688688T>C | CA346749627 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1109A>G (p.Asn370Ser) c.948-549A>G (n.948-549A>G) c.3441+17008T>C (n.3441+17008T>C) c.948-105A>G (n.948-105A>G) c.1028A>G (p.Asn343Ser) c.276+17008T>C (n.276+17008T>C) c.*220+5536A>G (n.*220+5536A>G) c.152A>G (p.Asn51Ser) c.179A>G (p.Asn60Ser) c.1034A>G (p.Asn345Ser) c.848A>G (p.Asn283Ser) c.767A>G (p.Asn256Ser) c.473A>G (p.Asn158Ser) c.854A>G (p.Asn285Ser) | |
2 | g.48688688T>G | CA346749629 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1109A>C (p.Asn370Thr) c.948-549A>C (n.948-549A>C) c.3441+17008T>G (n.3441+17008T>G) c.948-105A>C (n.948-105A>C) c.1028A>C (p.Asn343Thr) c.276+17008T>G (n.276+17008T>G) c.*220+5536A>C (n.*220+5536A>C) c.152A>C (p.Asn51Thr) c.179A>C (p.Asn60Thr) c.1034A>C (p.Asn345Thr) c.848A>C (p.Asn283Thr) c.767A>C (p.Asn256Thr) c.473A>C (p.Asn158Thr) c.854A>C (p.Asn285Thr) | |
2 | g.48688689T>A | CA346749631 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1108A>T (p.Asn370Tyr) c.948-550A>T (n.948-550A>T) c.3441+17009T>A (n.3441+17009T>A) c.948-106A>T (n.948-106A>T) c.1027A>T (p.Asn343Tyr) c.276+17009T>A (n.276+17009T>A) c.*220+5535A>T (n.*220+5535A>T) c.151A>T (p.Asn51Tyr) c.178A>T (p.Asn60Tyr) c.1033A>T (p.Asn345Tyr) c.847A>T (p.Asn283Tyr) c.766A>T (p.Asn256Tyr) c.472A>T (p.Asn158Tyr) c.853A>T (p.Asn285Tyr) | |
2 | g.48688689T>C | CA346749632 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1108A>G (p.Asn370Asp) c.948-550A>G (n.948-550A>G) c.3441+17009T>C (n.3441+17009T>C) c.948-106A>G (n.948-106A>G) c.1027A>G (p.Asn343Asp) c.276+17009T>C (n.276+17009T>C) c.*220+5535A>G (n.*220+5535A>G) c.151A>G (p.Asn51Asp) c.178A>G (p.Asn60Asp) c.1033A>G (p.Asn345Asp) c.847A>G (p.Asn283Asp) c.766A>G (p.Asn256Asp) c.472A>G (p.Asn158Asp) c.853A>G (p.Asn285Asp) | |
2 | g.48688689T>G | CA346749633 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1108A>C (p.Asn370His) c.948-550A>C (n.948-550A>C) c.3441+17009T>G (n.3441+17009T>G) c.948-106A>C (n.948-106A>C) c.1027A>C (p.Asn343His) c.276+17009T>G (n.276+17009T>G) c.*220+5535A>C (n.*220+5535A>C) c.151A>C (p.Asn51His) c.178A>C (p.Asn60His) c.1033A>C (p.Asn345His) c.847A>C (p.Asn283His) c.766A>C (p.Asn256His) c.472A>C (p.Asn158His) c.853A>C (p.Asn285His) | |
2 | g.48688690A= | CA1248601234 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1107T= (p.Ile369=) c.948-551T= (n.948-551T=) c.3441+17010A= (n.3441+17010A=) c.948-107T= (n.948-107T=) c.1026T= (p.Ile342=) c.276+17010A= (n.276+17010A=) c.*220+5534T= (n.*220+5534T=) c.150T= (p.Ile50=) c.177T= (p.Ile59=) c.1032T= (p.Ile344=) c.846T= (p.Ile282=) c.765T= (p.Ile255=) c.471T= (p.Ile157=) c.852T= (p.Ile284=) | |
2 | g.48688690A>C | CA46753265 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1107T>G (p.Ile369Met) c.948-551T>G (n.948-551T>G) c.3441+17010A>C (n.3441+17010A>C) c.948-107T>G (n.948-107T>G) c.1026T>G (p.Ile342Met) c.276+17010A>C (n.276+17010A>C) c.*220+5534T>G (n.*220+5534T>G) c.150T>G (p.Ile50Met) c.177T>G (p.Ile59Met) c.1032T>G (p.Ile344Met) c.846T>G (p.Ile282Met) c.765T>G (p.Ile255Met) c.471T>G (p.Ile157Met) c.852T>G (p.Ile284Met) | dbSNP |
2 | g.48688690A>G | CA426124722 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1107T>C (p.Ile369=) c.948-551T>C (n.948-551T>C) c.3441+17010A>G (n.3441+17010A>G) c.948-107T>C (n.948-107T>C) c.1026T>C (p.Ile342=) c.276+17010A>G (n.276+17010A>G) c.*220+5534T>C (n.*220+5534T>C) c.150T>C (p.Ile50=) c.177T>C (p.Ile59=) c.1032T>C (p.Ile344=) c.846T>C (p.Ile282=) c.765T>C (p.Ile255=) c.471T>C (p.Ile157=) c.852T>C (p.Ile284=) | |
2 | g.48688690A>T | CA426124721 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1107T>A (p.Ile369=) c.948-551T>A (n.948-551T>A) c.3441+17010A>T (n.3441+17010A>T) c.948-107T>A (n.948-107T>A) c.1026T>A (p.Ile342=) c.276+17010A>T (n.276+17010A>T) c.*220+5534T>A (n.*220+5534T>A) c.150T>A (p.Ile50=) c.177T>A (p.Ile59=) c.1032T>A (p.Ile344=) c.846T>A (p.Ile282=) c.765T>A (p.Ile255=) c.471T>A (p.Ile157=) c.852T>A (p.Ile284=) | gnomAD v4 |
2 | g.48688691A>C | CA346749635 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1106T>G (p.Ile369Ser) c.948-552T>G (n.948-552T>G) c.3441+17011A>C (n.3441+17011A>C) c.948-108T>G (n.948-108T>G) c.1025T>G (p.Ile342Ser) c.276+17011A>C (n.276+17011A>C) c.*220+5533T>G (n.*220+5533T>G) c.149T>G (p.Ile50Ser) c.176T>G (p.Ile59Ser) c.1031T>G (p.Ile344Ser) c.845T>G (p.Ile282Ser) c.764T>G (p.Ile255Ser) c.470T>G (p.Ile157Ser) c.851T>G (p.Ile284Ser) | |
2 | g.48688691A>G | CA346749638 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1106T>C (p.Ile369Thr) c.948-552T>C (n.948-552T>C) c.3441+17011A>G (n.3441+17011A>G) c.948-108T>C (n.948-108T>C) c.1025T>C (p.Ile342Thr) c.276+17011A>G (n.276+17011A>G) c.*220+5533T>C (n.*220+5533T>C) c.149T>C (p.Ile50Thr) c.176T>C (p.Ile59Thr) c.1031T>C (p.Ile344Thr) c.845T>C (p.Ile282Thr) c.764T>C (p.Ile255Thr) c.470T>C (p.Ile157Thr) c.851T>C (p.Ile284Thr) | |
2 | g.48688691A>T | CA346749641 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1106T>A (p.Ile369Asn) c.948-552T>A (n.948-552T>A) c.3441+17011A>T (n.3441+17011A>T) c.948-108T>A (n.948-108T>A) c.1025T>A (p.Ile342Asn) c.276+17011A>T (n.276+17011A>T) c.*220+5533T>A (n.*220+5533T>A) c.149T>A (p.Ile50Asn) c.176T>A (p.Ile59Asn) c.1031T>A (p.Ile344Asn) c.845T>A (p.Ile282Asn) c.764T>A (p.Ile255Asn) c.470T>A (p.Ile157Asn) c.851T>A (p.Ile284Asn) | |
2 | g.48688692T>A | CA346749642 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1105A>T (p.Ile369Phe) c.948-553A>T (n.948-553A>T) c.3441+17012T>A (n.3441+17012T>A) c.948-109A>T (n.948-109A>T) c.1024A>T (p.Ile342Phe) c.276+17012T>A (n.276+17012T>A) c.*220+5532A>T (n.*220+5532A>T) c.148A>T (p.Ile50Phe) c.175A>T (p.Ile59Phe) c.1030A>T (p.Ile344Phe) c.844A>T (p.Ile282Phe) c.763A>T (p.Ile255Phe) c.469A>T (p.Ile157Phe) c.850A>T (p.Ile284Phe) | |
2 | g.48688692T>C | CA346749643 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1105A>G (p.Ile369Val) c.948-553A>G (n.948-553A>G) c.3441+17012T>C (n.3441+17012T>C) c.948-109A>G (n.948-109A>G) c.1024A>G (p.Ile342Val) c.276+17012T>C (n.276+17012T>C) c.*220+5532A>G (n.*220+5532A>G) c.148A>G (p.Ile50Val) c.175A>G (p.Ile59Val) c.1030A>G (p.Ile344Val) c.844A>G (p.Ile282Val) c.763A>G (p.Ile255Val) c.469A>G (p.Ile157Val) c.850A>G (p.Ile284Val) | |
2 | g.48688692T>G | CA346749645 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1105A>C (p.Ile369Leu) c.948-553A>C (n.948-553A>C) c.3441+17012T>G (n.3441+17012T>G) c.948-109A>C (n.948-109A>C) c.1024A>C (p.Ile342Leu) c.276+17012T>G (n.276+17012T>G) c.*220+5532A>C (n.*220+5532A>C) c.148A>C (p.Ile50Leu) c.175A>C (p.Ile59Leu) c.1030A>C (p.Ile344Leu) c.844A>C (p.Ile282Leu) c.763A>C (p.Ile255Leu) c.469A>C (p.Ile157Leu) c.850A>C (p.Ile284Leu) | gnomAD v4 |
2 | g.48688693C>A | CA426124726 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1104G>T (p.Leu368=) c.948-554G>T (n.948-554G>T) c.3441+17013C>A (n.3441+17013C>A) c.948-110G>T (n.948-110G>T) c.1023G>T (p.Leu341=) c.276+17013C>A (n.276+17013C>A) c.*220+5531G>T (n.*220+5531G>T) c.147G>T (p.Leu49=) c.174G>T (p.Leu58=) c.1029G>T (p.Leu343=) c.843G>T (p.Leu281=) c.762G>T (p.Leu254=) c.468G>T (p.Leu156=) c.849G>T (p.Leu283=) | |
2 | g.48688693C= | CA1248601235 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1104G= (p.Leu368=) c.948-554G= (n.948-554G=) c.3441+17013C= (n.3441+17013C=) c.948-110G= (n.948-110G=) c.1023G= (p.Leu341=) c.276+17013C= (n.276+17013C=) c.*220+5531G= (n.*220+5531G=) c.147G= (p.Leu49=) c.174G= (p.Leu58=) c.1029G= (p.Leu343=) c.843G= (p.Leu281=) c.762G= (p.Leu254=) c.468G= (p.Leu156=) c.849G= (p.Leu283=) | |
2 | g.48688693C>G | CA426124727 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1104G>C (p.Leu368=) c.948-554G>C (n.948-554G>C) c.3441+17013C>G (n.3441+17013C>G) c.948-110G>C (n.948-110G>C) c.1023G>C (p.Leu341=) c.276+17013C>G (n.276+17013C>G) c.*220+5531G>C (n.*220+5531G>C) c.147G>C (p.Leu49=) c.174G>C (p.Leu58=) c.1029G>C (p.Leu343=) c.843G>C (p.Leu281=) c.762G>C (p.Leu254=) c.468G>C (p.Leu156=) c.849G>C (p.Leu283=) | gnomAD v4 |
2 | g.48688693C>T | CA426124728 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1104G>A (p.Leu368=) c.948-554G>A (n.948-554G>A) c.3441+17013C>T (n.3441+17013C>T) c.948-110G>A (n.948-110G>A) c.1023G>A (p.Leu341=) c.276+17013C>T (n.276+17013C>T) c.*220+5531G>A (n.*220+5531G>A) c.147G>A (p.Leu49=) c.174G>A (p.Leu58=) c.1029G>A (p.Leu343=) c.843G>A (p.Leu281=) c.762G>A (p.Leu254=) c.468G>A (p.Leu156=) c.849G>A (p.Leu283=) | dbSNP gnomAD v2 |
2 | g.48688694A= | CA1248601236 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1103T= (p.Leu368=) c.948-555T= (n.948-555T=) c.3441+17014A= (n.3441+17014A=) c.948-111T= (n.948-111T=) c.1022T= (p.Leu341=) c.276+17014A= (n.276+17014A=) c.*220+5530T= (n.*220+5530T=) c.146T= (p.Leu49=) c.173T= (p.Leu58=) c.1028T= (p.Leu343=) c.842T= (p.Leu281=) c.761T= (p.Leu254=) c.467T= (p.Leu156=) c.848T= (p.Leu283=) | |
2 | g.48688694A>C | CA346749649 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1103T>G (p.Leu368Arg) c.948-555T>G (n.948-555T>G) c.3441+17014A>C (n.3441+17014A>C) c.948-111T>G (n.948-111T>G) c.1022T>G (p.Leu341Arg) c.276+17014A>C (n.276+17014A>C) c.*220+5530T>G (n.*220+5530T>G) c.146T>G (p.Leu49Arg) c.173T>G (p.Leu58Arg) c.1028T>G (p.Leu343Arg) c.842T>G (p.Leu281Arg) c.761T>G (p.Leu254Arg) c.467T>G (p.Leu156Arg) c.848T>G (p.Leu283Arg) | |
2 | g.48688694A>G | CA123932 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1103T>C (p.Leu368Pro) c.948-555T>C (n.948-555T>C) c.3441+17014A>G (n.3441+17014A>G) c.948-111T>C (n.948-111T>C) c.1022T>C (p.Leu341Pro) c.276+17014A>G (n.276+17014A>G) c.*220+5530T>C (n.*220+5530T>C) c.146T>C (p.Leu49Pro) c.173T>C (p.Leu58Pro) c.1028T>C (p.Leu343Pro) c.842T>C (p.Leu281Pro) c.761T>C (p.Leu254Pro) c.467T>C (p.Leu156Pro) c.848T>C (p.Leu283Pro) | ClinVar dbSNP |
2 | g.48688694A>T | CA346749647 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1103T>A (p.Leu368Gln) c.948-555T>A (n.948-555T>A) c.3441+17014A>T (n.3441+17014A>T) c.948-111T>A (n.948-111T>A) c.1022T>A (p.Leu341Gln) c.276+17014A>T (n.276+17014A>T) c.*220+5530T>A (n.*220+5530T>A) c.146T>A (p.Leu49Gln) c.173T>A (p.Leu58Gln) c.1028T>A (p.Leu343Gln) c.842T>A (p.Leu281Gln) c.761T>A (p.Leu254Gln) c.467T>A (p.Leu156Gln) c.848T>A (p.Leu283Gln) | |
2 | g.48688695G>A | CA426124729 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1102C>T (p.Leu368=) c.948-556C>T (n.948-556C>T) c.3441+17015G>A (n.3441+17015G>A) c.948-112C>T (n.948-112C>T) c.1021C>T (p.Leu341=) c.276+17015G>A (n.276+17015G>A) c.*220+5529C>T (n.*220+5529C>T) c.145C>T (p.Leu49=) c.172C>T (p.Leu58=) c.1027C>T (p.Leu343=) c.841C>T (p.Leu281=) c.760C>T (p.Leu254=) c.466C>T (p.Leu156=) c.847C>T (p.Leu283=) | |
2 | g.48688695G>C | CA46753272 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1102C>G (p.Leu368Val) c.948-556C>G (n.948-556C>G) c.3441+17015G>C (n.3441+17015G>C) c.948-112C>G (n.948-112C>G) c.1021C>G (p.Leu341Val) c.276+17015G>C (n.276+17015G>C) c.*220+5529C>G (n.*220+5529C>G) c.145C>G (p.Leu49Val) c.172C>G (p.Leu58Val) c.1027C>G (p.Leu343Val) c.841C>G (p.Leu281Val) c.760C>G (p.Leu254Val) c.466C>G (p.Leu156Val) c.847C>G (p.Leu283Val) | dbSNP |
2 | g.48688695G= | CA1248601237 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1102C= (p.Leu368=) c.948-556C= (n.948-556C=) c.3441+17015G= (n.3441+17015G=) c.948-112C= (n.948-112C=) c.1021C= (p.Leu341=) c.276+17015G= (n.276+17015G=) c.*220+5529C= (n.*220+5529C=) c.145C= (p.Leu49=) c.172C= (p.Leu58=) c.1027C= (p.Leu343=) c.841C= (p.Leu281=) c.760C= (p.Leu254=) c.466C= (p.Leu156=) c.847C= (p.Leu283=) | |
2 | g.48688695G>T | CA346749653 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1102C>A (p.Leu368Met) c.948-556C>A (n.948-556C>A) c.3441+17015G>T (n.3441+17015G>T) c.948-112C>A (n.948-112C>A) c.1021C>A (p.Leu341Met) c.276+17015G>T (n.276+17015G>T) c.*220+5529C>A (n.*220+5529C>A) c.145C>A (p.Leu49Met) c.172C>A (p.Leu58Met) c.1027C>A (p.Leu343Met) c.841C>A (p.Leu281Met) c.760C>A (p.Leu254Met) c.466C>A (p.Leu156Met) c.847C>A (p.Leu283Met) | |
2 | g.48688696C>A | CA346749655 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1101G>T (p.Trp367Cys) c.948-557G>T (n.948-557G>T) c.3441+17016C>A (n.3441+17016C>A) c.948-113G>T (n.948-113G>T) c.1020G>T (p.Trp340Cys) c.276+17016C>A (n.276+17016C>A) c.*220+5528G>T (n.*220+5528G>T) c.144G>T (p.Trp48Cys) c.171G>T (p.Trp57Cys) c.1026G>T (p.Trp342Cys) c.840G>T (p.Trp280Cys) c.759G>T (p.Trp253Cys) c.465G>T (p.Trp155Cys) c.846G>T (p.Trp282Cys) | |
2 | g.48688696C>G | CA346749658 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1101G>C (p.Trp367Cys) c.948-557G>C (n.948-557G>C) c.3441+17016C>G (n.3441+17016C>G) c.948-113G>C (n.948-113G>C) c.1020G>C (p.Trp340Cys) c.276+17016C>G (n.276+17016C>G) c.*220+5528G>C (n.*220+5528G>C) c.144G>C (p.Trp48Cys) c.171G>C (p.Trp57Cys) c.1026G>C (p.Trp342Cys) c.840G>C (p.Trp280Cys) c.759G>C (p.Trp253Cys) c.465G>C (p.Trp155Cys) c.846G>C (p.Trp282Cys) | |
2 | g.48688696C>T | CA346749659 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1101G>A (p.Trp367Ter) c.948-557G>A (n.948-557G>A) c.3441+17016C>T (n.3441+17016C>T) c.948-113G>A (n.948-113G>A) c.1020G>A (p.Trp340Ter) c.276+17016C>T (n.276+17016C>T) c.*220+5528G>A (n.*220+5528G>A) c.144G>A (p.Trp48Ter) c.171G>A (p.Trp57Ter) c.1026G>A (p.Trp342Ter) c.840G>A (p.Trp280Ter) c.759G>A (p.Trp253Ter) c.465G>A (p.Trp155Ter) c.846G>A (p.Trp282Ter) | |
2 | g.48688697C>A | CA346749663 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1100G>T (p.Trp367Leu) c.948-558G>T (n.948-558G>T) c.3441+17017C>A (n.3441+17017C>A) c.948-114G>T (n.948-114G>T) c.1019G>T (p.Trp340Leu) c.276+17017C>A (n.276+17017C>A) c.*220+5527G>T (n.*220+5527G>T) c.143G>T (p.Trp48Leu) c.170G>T (p.Trp57Leu) c.1025G>T (p.Trp342Leu) c.839G>T (p.Trp280Leu) c.758G>T (p.Trp253Leu) c.464G>T (p.Trp155Leu) c.845G>T (p.Trp282Leu) | |
2 | g.48688697C>G | CA346749666 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1100G>C (p.Trp367Ser) c.948-558G>C (n.948-558G>C) c.3441+17017C>G (n.3441+17017C>G) c.948-114G>C (n.948-114G>C) c.1019G>C (p.Trp340Ser) c.276+17017C>G (n.276+17017C>G) c.*220+5527G>C (n.*220+5527G>C) c.143G>C (p.Trp48Ser) c.170G>C (p.Trp57Ser) c.1025G>C (p.Trp342Ser) c.839G>C (p.Trp280Ser) c.758G>C (p.Trp253Ser) c.464G>C (p.Trp155Ser) c.845G>C (p.Trp282Ser) | COSMIC |
2 | g.48688697C>T | CA346749670 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1100G>A (p.Trp367Ter) c.948-558G>A (n.948-558G>A) c.3441+17017C>T (n.3441+17017C>T) c.948-114G>A (n.948-114G>A) c.1019G>A (p.Trp340Ter) c.276+17017C>T (n.276+17017C>T) c.*220+5527G>A (n.*220+5527G>A) c.143G>A (p.Trp48Ter) c.170G>A (p.Trp57Ter) c.1025G>A (p.Trp342Ter) c.839G>A (p.Trp280Ter) c.758G>A (p.Trp253Ter) c.464G>A (p.Trp155Ter) c.845G>A (p.Trp282Ter) | |
2 | g.48688698A>C | CA346749674 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1099T>G (p.Trp367Gly) c.948-559T>G (n.948-559T>G) c.3441+17018A>C (n.3441+17018A>C) c.948-115T>G (n.948-115T>G) c.1018T>G (p.Trp340Gly) c.276+17018A>C (n.276+17018A>C) c.*220+5526T>G (n.*220+5526T>G) c.142T>G (p.Trp48Gly) c.169T>G (p.Trp57Gly) c.1024T>G (p.Trp342Gly) c.838T>G (p.Trp280Gly) c.757T>G (p.Trp253Gly) c.463T>G (p.Trp155Gly) c.844T>G (p.Trp282Gly) | |
2 | g.48688698A>G | CA346749679 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1099T>C (p.Trp367Arg) c.948-559T>C (n.948-559T>C) c.3441+17018A>G (n.3441+17018A>G) c.948-115T>C (n.948-115T>C) c.1018T>C (p.Trp340Arg) c.276+17018A>G (n.276+17018A>G) c.*220+5526T>C (n.*220+5526T>C) c.142T>C (p.Trp48Arg) c.169T>C (p.Trp57Arg) c.1024T>C (p.Trp342Arg) c.838T>C (p.Trp280Arg) c.757T>C (p.Trp253Arg) c.463T>C (p.Trp155Arg) c.844T>C (p.Trp282Arg) | |
2 | g.48688698A>T | CA346749677 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1099T>A (p.Trp367Arg) c.948-559T>A (n.948-559T>A) c.3441+17018A>T (n.3441+17018A>T) c.948-115T>A (n.948-115T>A) c.1018T>A (p.Trp340Arg) c.276+17018A>T (n.276+17018A>T) c.*220+5526T>A (n.*220+5526T>A) c.142T>A (p.Trp48Arg) c.169T>A (p.Trp57Arg) c.1024T>A (p.Trp342Arg) c.838T>A (p.Trp280Arg) c.757T>A (p.Trp253Arg) c.463T>A (p.Trp155Arg) c.844T>A (p.Trp282Arg) | |
2 | g.48688699A>C | CA346749682 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1098T>G (p.Ile366Met) c.948-560T>G (n.948-560T>G) c.3441+17019A>C (n.3441+17019A>C) c.948-116T>G (n.948-116T>G) c.1017T>G (p.Ile339Met) c.276+17019A>C (n.276+17019A>C) c.*220+5525T>G (n.*220+5525T>G) c.141T>G (p.Ile47Met) c.168T>G (p.Ile56Met) c.1023T>G (p.Ile341Met) c.837T>G (p.Ile279Met) c.756T>G (p.Ile252Met) c.462T>G (p.Ile154Met) c.843T>G (p.Ile281Met) | |
2 | g.48688699A>G | CA426124733 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1098T>C (p.Ile366=) c.948-560T>C (n.948-560T>C) c.3441+17019A>G (n.3441+17019A>G) c.948-116T>C (n.948-116T>C) c.1017T>C (p.Ile339=) c.276+17019A>G (n.276+17019A>G) c.*220+5525T>C (n.*220+5525T>C) c.141T>C (p.Ile47=) c.168T>C (p.Ile56=) c.1023T>C (p.Ile341=) c.837T>C (p.Ile279=) c.756T>C (p.Ile252=) c.462T>C (p.Ile154=) c.843T>C (p.Ile281=) | |
2 | g.48688699A>T | CA426124734 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1098T>A (p.Ile366=) c.948-560T>A (n.948-560T>A) c.3441+17019A>T (n.3441+17019A>T) c.948-116T>A (n.948-116T>A) c.1017T>A (p.Ile339=) c.276+17019A>T (n.276+17019A>T) c.*220+5525T>A (n.*220+5525T>A) c.141T>A (p.Ile47=) c.168T>A (p.Ile56=) c.1023T>A (p.Ile341=) c.837T>A (p.Ile279=) c.756T>A (p.Ile252=) c.462T>A (p.Ile154=) c.843T>A (p.Ile281=) | |
2 | g.48688700A= | CA1248601238 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1097T= (p.Ile366=) c.948-561T= (n.948-561T=) c.3441+17020A= (n.3441+17020A=) c.948-117T= (n.948-117T=) c.1016T= (p.Ile339=) c.276+17020A= (n.276+17020A=) c.*220+5524T= (n.*220+5524T=) c.140T= (p.Ile47=) c.167T= (p.Ile56=) c.1022T= (p.Ile341=) c.836T= (p.Ile279=) c.755T= (p.Ile252=) c.461T= (p.Ile154=) c.842T= (p.Ile281=) | |
2 | g.48688700A>C | CA346749689 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1097T>G (p.Ile366Ser) c.948-561T>G (n.948-561T>G) c.3441+17020A>C (n.3441+17020A>C) c.948-117T>G (n.948-117T>G) c.1016T>G (p.Ile339Ser) c.276+17020A>C (n.276+17020A>C) c.*220+5524T>G (n.*220+5524T>G) c.140T>G (p.Ile47Ser) c.167T>G (p.Ile56Ser) c.1022T>G (p.Ile341Ser) c.836T>G (p.Ile279Ser) c.755T>G (p.Ile252Ser) c.461T>G (p.Ile154Ser) c.842T>G (p.Ile281Ser) | |
2 | g.48688700A>G | CA46753290 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1097T>C (p.Ile366Thr) c.948-561T>C (n.948-561T>C) c.3441+17020A>G (n.3441+17020A>G) c.948-117T>C (n.948-117T>C) c.1016T>C (p.Ile339Thr) c.276+17020A>G (n.276+17020A>G) c.*220+5524T>C (n.*220+5524T>C) c.140T>C (p.Ile47Thr) c.167T>C (p.Ile56Thr) c.1022T>C (p.Ile341Thr) c.836T>C (p.Ile279Thr) c.755T>C (p.Ile252Thr) c.461T>C (p.Ile154Thr) c.842T>C (p.Ile281Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688700A>T | CA346749692 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1097T>A (p.Ile366Asn) c.948-561T>A (n.948-561T>A) c.3441+17020A>T (n.3441+17020A>T) c.948-117T>A (n.948-117T>A) c.1016T>A (p.Ile339Asn) c.276+17020A>T (n.276+17020A>T) c.*220+5524T>A (n.*220+5524T>A) c.140T>A (p.Ile47Asn) c.167T>A (p.Ile56Asn) c.1022T>A (p.Ile341Asn) c.836T>A (p.Ile279Asn) c.755T>A (p.Ile252Asn) c.461T>A (p.Ile154Asn) c.842T>A (p.Ile281Asn) | |
2 | g.48688701T>A | CA346749694 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1096A>T (p.Ile366Phe) c.948-562A>T (n.948-562A>T) c.3441+17021T>A (n.3441+17021T>A) c.948-118A>T (n.948-118A>T) c.1015A>T (p.Ile339Phe) c.276+17021T>A (n.276+17021T>A) c.*220+5523A>T (n.*220+5523A>T) c.139A>T (p.Ile47Phe) c.166A>T (p.Ile56Phe) c.1021A>T (p.Ile341Phe) c.835A>T (p.Ile279Phe) c.754A>T (p.Ile252Phe) c.460A>T (p.Ile154Phe) c.841A>T (p.Ile281Phe) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48688701T>C | CA346749696 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1096A>G (p.Ile366Val) c.948-562A>G (n.948-562A>G) c.3441+17021T>C (n.3441+17021T>C) c.948-118A>G (n.948-118A>G) c.1015A>G (p.Ile339Val) c.276+17021T>C (n.276+17021T>C) c.*220+5523A>G (n.*220+5523A>G) c.139A>G (p.Ile47Val) c.166A>G (p.Ile56Val) c.1021A>G (p.Ile341Val) c.835A>G (p.Ile279Val) c.754A>G (p.Ile252Val) c.460A>G (p.Ile154Val) c.841A>G (p.Ile281Val) | COSMIC |
2 | g.48688701T>G | CA346749695 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1096A>C (p.Ile366Leu) c.948-562A>C (n.948-562A>C) c.3441+17021T>G (n.3441+17021T>G) c.948-118A>C (n.948-118A>C) c.1015A>C (p.Ile339Leu) c.276+17021T>G (n.276+17021T>G) c.*220+5523A>C (n.*220+5523A>C) c.139A>C (p.Ile47Leu) c.166A>C (p.Ile56Leu) c.1021A>C (p.Ile341Leu) c.835A>C (p.Ile279Leu) c.754A>C (p.Ile252Leu) c.460A>C (p.Ile154Leu) c.841A>C (p.Ile281Leu) | |
2 | g.48688701T= | CA1248601239 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1096A= (p.Ile366=) c.948-562A= (n.948-562A=) c.3441+17021T= (n.3441+17021T=) c.948-118A= (n.948-118A=) c.1015A= (p.Ile339=) c.276+17021T= (n.276+17021T=) c.*220+5523A= (n.*220+5523A=) c.139A= (p.Ile47=) c.166A= (p.Ile56=) c.1021A= (p.Ile341=) c.835A= (p.Ile279=) c.754A= (p.Ile252=) c.460A= (p.Ile154=) c.841A= (p.Ile281=) | |
2 | g.48688702C>A | CA46753307 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1095G>T (p.Leu365=) c.948-563G>T (n.948-563G>T) c.3441+17022C>A (n.3441+17022C>A) c.948-119G>T (n.948-119G>T) c.1014G>T (p.Leu338=) c.276+17022C>A (n.276+17022C>A) c.*220+5522G>T (n.*220+5522G>T) c.138G>T (p.Leu46=) c.165G>T (p.Leu55=) c.1020G>T (p.Leu340=) c.834G>T (p.Leu278=) c.753G>T (p.Leu251=) c.459G>T (p.Leu153=) c.840G>T (p.Leu280=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.48688702C= | CA1248601240 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1095G= (p.Leu365=) c.948-563G= (n.948-563G=) c.3441+17022C= (n.3441+17022C=) c.948-119G= (n.948-119G=) c.1014G= (p.Leu338=) c.276+17022C= (n.276+17022C=) c.*220+5522G= (n.*220+5522G=) c.138G= (p.Leu46=) c.165G= (p.Leu55=) c.1020G= (p.Leu340=) c.834G= (p.Leu278=) c.753G= (p.Leu251=) c.459G= (p.Leu153=) c.840G= (p.Leu280=) | |
2 | g.48688702C>G | CA1653081 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1095G>C (p.Leu365=) c.948-563G>C (n.948-563G>C) c.3441+17022C>G (n.3441+17022C>G) c.948-119G>C (n.948-119G>C) c.1014G>C (p.Leu338=) c.276+17022C>G (n.276+17022C>G) c.*220+5522G>C (n.*220+5522G>C) c.138G>C (p.Leu46=) c.165G>C (p.Leu55=) c.1020G>C (p.Leu340=) c.834G>C (p.Leu278=) c.753G>C (p.Leu251=) c.459G>C (p.Leu153=) c.840G>C (p.Leu280=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48688702C>T | CA426124735 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1095G>A (p.Leu365=) c.948-563G>A (n.948-563G>A) c.3441+17022C>T (n.3441+17022C>T) c.948-119G>A (n.948-119G>A) c.1014G>A (p.Leu338=) c.276+17022C>T (n.276+17022C>T) c.*220+5522G>A (n.*220+5522G>A) c.138G>A (p.Leu46=) c.165G>A (p.Leu55=) c.1020G>A (p.Leu340=) c.834G>A (p.Leu278=) c.753G>A (p.Leu251=) c.459G>A (p.Leu153=) c.840G>A (p.Leu280=) | ClinVar |
2 | g.48688703A>C | CA346749697 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1094T>G (p.Leu365Arg) c.948-564T>G (n.948-564T>G) c.3441+17023A>C (n.3441+17023A>C) c.948-120T>G (n.948-120T>G) c.1013T>G (p.Leu338Arg) c.276+17023A>C (n.276+17023A>C) c.*220+5521T>G (n.*220+5521T>G) c.137T>G (p.Leu46Arg) c.164T>G (p.Leu55Arg) c.1019T>G (p.Leu340Arg) c.833T>G (p.Leu278Arg) c.752T>G (p.Leu251Arg) c.458T>G (p.Leu153Arg) c.839T>G (p.Leu280Arg) | |
2 | g.48688703A>G | CA346749700 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1094T>C (p.Leu365Pro) c.948-564T>C (n.948-564T>C) c.3441+17023A>G (n.3441+17023A>G) c.948-120T>C (n.948-120T>C) c.1013T>C (p.Leu338Pro) c.276+17023A>G (n.276+17023A>G) c.*220+5521T>C (n.*220+5521T>C) c.137T>C (p.Leu46Pro) c.164T>C (p.Leu55Pro) c.1019T>C (p.Leu340Pro) c.833T>C (p.Leu278Pro) c.752T>C (p.Leu251Pro) c.458T>C (p.Leu153Pro) c.839T>C (p.Leu280Pro) | |
2 | g.48688703A>T | CA346749701 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1094T>A (p.Leu365Gln) c.948-564T>A (n.948-564T>A) c.3441+17023A>T (n.3441+17023A>T) c.948-120T>A (n.948-120T>A) c.1013T>A (p.Leu338Gln) c.276+17023A>T (n.276+17023A>T) c.*220+5521T>A (n.*220+5521T>A) c.137T>A (p.Leu46Gln) c.164T>A (p.Leu55Gln) c.1019T>A (p.Leu340Gln) c.833T>A (p.Leu278Gln) c.752T>A (p.Leu251Gln) c.458T>A (p.Leu153Gln) c.839T>A (p.Leu280Gln) | |
2 | g.48688704G>A | CA426124737 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1093C>T (p.Leu365=) c.948-565C>T (n.948-565C>T) c.3441+17024G>A (n.3441+17024G>A) c.948-121C>T (n.948-121C>T) c.1012C>T (p.Leu338=) c.276+17024G>A (n.276+17024G>A) c.*220+5520C>T (n.*220+5520C>T) c.136C>T (p.Leu46=) c.163C>T (p.Leu55=) c.1018C>T (p.Leu340=) c.832C>T (p.Leu278=) c.751C>T (p.Leu251=) c.457C>T (p.Leu153=) c.838C>T (p.Leu280=) | |
2 | g.48688704G>C | CA346749704 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1093C>G (p.Leu365Val) c.948-565C>G (n.948-565C>G) c.3441+17024G>C (n.3441+17024G>C) c.948-121C>G (n.948-121C>G) c.1012C>G (p.Leu338Val) c.276+17024G>C (n.276+17024G>C) c.*220+5520C>G (n.*220+5520C>G) c.136C>G (p.Leu46Val) c.163C>G (p.Leu55Val) c.1018C>G (p.Leu340Val) c.832C>G (p.Leu278Val) c.751C>G (p.Leu251Val) c.457C>G (p.Leu153Val) c.838C>G (p.Leu280Val) | |
2 | g.48688704G>T | CA346749708 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1093C>A (p.Leu365Met) c.948-565C>A (n.948-565C>A) c.3441+17024G>T (n.3441+17024G>T) c.948-121C>A (n.948-121C>A) c.1012C>A (p.Leu338Met) c.276+17024G>T (n.276+17024G>T) c.*220+5520C>A (n.*220+5520C>A) c.136C>A (p.Leu46Met) c.163C>A (p.Leu55Met) c.1018C>A (p.Leu340Met) c.832C>A (p.Leu278Met) c.751C>A (p.Leu251Met) c.457C>A (p.Leu153Met) c.838C>A (p.Leu280Met) | |
2 | g.48688705G>A | CA426124740 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1092C>T (p.Val364=) c.948-566C>T (n.948-566C>T) c.3441+17025G>A (n.3441+17025G>A) c.948-122C>T (n.948-122C>T) c.1011C>T (p.Val337=) c.276+17025G>A (n.276+17025G>A) c.*220+5519C>T (n.*220+5519C>T) c.135C>T (p.Val45=) c.162C>T (p.Val54=) c.1017C>T (p.Val339=) c.831C>T (p.Val277=) c.750C>T (p.Val250=) c.456C>T (p.Val152=) c.837C>T (p.Val279=) | |
2 | g.48688705G>C | CA426124741 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1092C>G (p.Val364=) c.948-566C>G (n.948-566C>G) c.3441+17025G>C (n.3441+17025G>C) c.948-122C>G (n.948-122C>G) c.1011C>G (p.Val337=) c.276+17025G>C (n.276+17025G>C) c.*220+5519C>G (n.*220+5519C>G) c.135C>G (p.Val45=) c.162C>G (p.Val54=) c.1017C>G (p.Val339=) c.831C>G (p.Val277=) c.750C>G (p.Val250=) c.456C>G (p.Val152=) c.837C>G (p.Val279=) | |
2 | g.48688705G>T | CA426124742 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1092C>A (p.Val364=) c.948-566C>A (n.948-566C>A) c.3441+17025G>T (n.3441+17025G>T) c.948-122C>A (n.948-122C>A) c.1011C>A (p.Val337=) c.276+17025G>T (n.276+17025G>T) c.*220+5519C>A (n.*220+5519C>A) c.135C>A (p.Val45=) c.162C>A (p.Val54=) c.1017C>A (p.Val339=) c.831C>A (p.Val277=) c.750C>A (p.Val250=) c.456C>A (p.Val152=) c.837C>A (p.Val279=) | |
2 | g.48688706A>C | CA346749712 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1091T>G (p.Val364Gly) c.948-567T>G (n.948-567T>G) c.3441+17026A>C (n.3441+17026A>C) c.948-123T>G (n.948-123T>G) c.1010T>G (p.Val337Gly) c.276+17026A>C (n.276+17026A>C) c.*220+5518T>G (n.*220+5518T>G) c.134T>G (p.Val45Gly) c.161T>G (p.Val54Gly) c.1016T>G (p.Val339Gly) c.830T>G (p.Val277Gly) c.749T>G (p.Val250Gly) c.455T>G (p.Val152Gly) c.836T>G (p.Val279Gly) | |
2 | g.48688706A>G | CA346749715 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1091T>C (p.Val364Ala) c.948-567T>C (n.948-567T>C) c.3441+17026A>G (n.3441+17026A>G) c.948-123T>C (n.948-123T>C) c.1010T>C (p.Val337Ala) c.276+17026A>G (n.276+17026A>G) c.*220+5518T>C (n.*220+5518T>C) c.134T>C (p.Val45Ala) c.161T>C (p.Val54Ala) c.1016T>C (p.Val339Ala) c.830T>C (p.Val277Ala) c.749T>C (p.Val250Ala) c.455T>C (p.Val152Ala) c.836T>C (p.Val279Ala) | |
2 | g.48688706A>T | CA346749716 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1091T>A (p.Val364Asp) c.948-567T>A (n.948-567T>A) c.3441+17026A>T (n.3441+17026A>T) c.948-123T>A (n.948-123T>A) c.1010T>A (p.Val337Asp) c.276+17026A>T (n.276+17026A>T) c.*220+5518T>A (n.*220+5518T>A) c.134T>A (p.Val45Asp) c.161T>A (p.Val54Asp) c.1016T>A (p.Val339Asp) c.830T>A (p.Val277Asp) c.749T>A (p.Val250Asp) c.455T>A (p.Val152Asp) c.836T>A (p.Val279Asp) | |
2 | g.48688706dup | CA2658992088 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1091dup (p.Leu365ProfsTer6) c.948-567dup (n.948-567dup) c.3441+17026dup (n.3441+17026dup) c.948-123dup (n.948-123dup) c.1010dup (p.Leu338ProfsTer6) c.276+17026dup (n.276+17026dup) c.*220+5518dup (n.*220+5518dup) c.134dup (p.Leu46ProfsTer6) c.161dup (p.Leu55ProfsTer6) c.1016dup (p.Leu340ProfsTer6) c.830dup (p.Leu278ProfsTer6) c.749dup (p.Leu251ProfsTer6) c.455dup (p.Leu153ProfsTer6) c.836dup (p.Leu280ProfsTer6) | gnomAD v4 |
2 | g.48688707C>A | CA346749718 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1090G>T (p.Val364Phe) c.948-568G>T (n.948-568G>T) c.3441+17027C>A (n.3441+17027C>A) c.948-124G>T (n.948-124G>T) c.1009G>T (p.Val337Phe) c.276+17027C>A (n.276+17027C>A) c.*220+5517G>T (n.*220+5517G>T) c.133G>T (p.Val45Phe) c.160G>T (p.Val54Phe) c.1015G>T (p.Val339Phe) c.829G>T (p.Val277Phe) c.748G>T (p.Val250Phe) c.454G>T (p.Val152Phe) c.835G>T (p.Val279Phe) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48688707C= | CA1248601241 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1090G= (p.Val364=) c.948-568G= (n.948-568G=) c.3441+17027C= (n.3441+17027C=) c.948-124G= (n.948-124G=) c.1009G= (p.Val337=) c.276+17027C= (n.276+17027C=) c.*220+5517G= (n.*220+5517G=) c.133G= (p.Val45=) c.160G= (p.Val54=) c.1015G= (p.Val339=) c.829G= (p.Val277=) c.748G= (p.Val250=) c.454G= (p.Val152=) c.835G= (p.Val279=) | |
2 | g.48688707C>G | CA346749729 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1090G>C (p.Val364Leu) c.948-568G>C (n.948-568G>C) c.3441+17027C>G (n.3441+17027C>G) c.948-124G>C (n.948-124G>C) c.1009G>C (p.Val337Leu) c.276+17027C>G (n.276+17027C>G) c.*220+5517G>C (n.*220+5517G>C) c.133G>C (p.Val45Leu) c.160G>C (p.Val54Leu) c.1015G>C (p.Val339Leu) c.829G>C (p.Val277Leu) c.748G>C (p.Val250Leu) c.454G>C (p.Val152Leu) c.835G>C (p.Val279Leu) | |
2 | g.48688707C>T | CA1653082 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1090G>A (p.Val364Ile) c.948-568G>A (n.948-568G>A) c.3441+17027C>T (n.3441+17027C>T) c.948-124G>A (n.948-124G>A) c.1009G>A (p.Val337Ile) c.276+17027C>T (n.276+17027C>T) c.*220+5517G>A (n.*220+5517G>A) c.133G>A (p.Val45Ile) c.160G>A (p.Val54Ile) c.1015G>A (p.Val339Ile) c.829G>A (p.Val277Ile) c.748G>A (p.Val250Ile) c.454G>A (p.Val152Ile) c.835G>A (p.Val279Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48688708C>A | CA346749738 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1089G>T (p.Arg363Ser) c.948-569G>T (n.948-569G>T) c.3441+17028C>A (n.3441+17028C>A) c.948-125G>T (n.948-125G>T) c.1008G>T (p.Arg336Ser) c.276+17028C>A (n.276+17028C>A) c.*220+5516G>T (n.*220+5516G>T) c.132G>T (p.Arg44Ser) c.159G>T (p.Arg53Ser) c.1014G>T (p.Arg338Ser) c.828G>T (p.Arg276Ser) c.747G>T (p.Arg249Ser) c.453G>T (p.Arg151Ser) c.834G>T (p.Arg278Ser) | |
2 | g.48688708C= | CA1248601242 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1089G= (p.Arg363=) c.948-569G= (n.948-569G=) c.3441+17028C= (n.3441+17028C=) c.948-125G= (n.948-125G=) c.1008G= (p.Arg336=) c.276+17028C= (n.276+17028C=) c.*220+5516G= (n.*220+5516G=) c.132G= (p.Arg44=) c.159G= (p.Arg53=) c.1014G= (p.Arg338=) c.828G= (p.Arg276=) c.747G= (p.Arg249=) c.453G= (p.Arg151=) c.834G= (p.Arg278=) | |
2 | g.48688708C>G | CA346749740 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1089G>C (p.Arg363Ser) c.948-569G>C (n.948-569G>C) c.3441+17028C>G (n.3441+17028C>G) c.948-125G>C (n.948-125G>C) c.1008G>C (p.Arg336Ser) c.276+17028C>G (n.276+17028C>G) c.*220+5516G>C (n.*220+5516G>C) c.132G>C (p.Arg44Ser) c.159G>C (p.Arg53Ser) c.1014G>C (p.Arg338Ser) c.828G>C (p.Arg276Ser) c.747G>C (p.Arg249Ser) c.453G>C (p.Arg151Ser) c.834G>C (p.Arg278Ser) | |
2 | g.48688708C>T | CA1653083 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1089G>A (p.Arg363=) c.948-569G>A (n.948-569G>A) c.3441+17028C>T (n.3441+17028C>T) c.948-125G>A (n.948-125G>A) c.1008G>A (p.Arg336=) c.276+17028C>T (n.276+17028C>T) c.*220+5516G>A (n.*220+5516G>A) c.132G>A (p.Arg44=) c.159G>A (p.Arg53=) c.1014G>A (p.Arg338=) c.828G>A (p.Arg276=) c.747G>A (p.Arg249=) c.453G>A (p.Arg151=) c.834G>A (p.Arg278=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688709C>A | CA346749741 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1088G>T (p.Arg363Met) c.948-570G>T (n.948-570G>T) c.3441+17029C>A (n.3441+17029C>A) c.948-126G>T (n.948-126G>T) c.1007G>T (p.Arg336Met) c.276+17029C>A (n.276+17029C>A) c.*220+5515G>T (n.*220+5515G>T) c.131G>T (p.Arg44Met) c.158G>T (p.Arg53Met) c.1013G>T (p.Arg338Met) c.827G>T (p.Arg276Met) c.746G>T (p.Arg249Met) c.452G>T (p.Arg151Met) c.833G>T (p.Arg278Met) | |
2 | g.48688709C>G | CA346749743 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1088G>C (p.Arg363Thr) c.948-570G>C (n.948-570G>C) c.3441+17029C>G (n.3441+17029C>G) c.948-126G>C (n.948-126G>C) c.1007G>C (p.Arg336Thr) c.276+17029C>G (n.276+17029C>G) c.*220+5515G>C (n.*220+5515G>C) c.131G>C (p.Arg44Thr) c.158G>C (p.Arg53Thr) c.1013G>C (p.Arg338Thr) c.827G>C (p.Arg276Thr) c.746G>C (p.Arg249Thr) c.452G>C (p.Arg151Thr) c.833G>C (p.Arg278Thr) | |
2 | g.48688709C>T | CA346749744 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1088G>A (p.Arg363Lys) c.948-570G>A (n.948-570G>A) c.3441+17029C>T (n.3441+17029C>T) c.948-126G>A (n.948-126G>A) c.1007G>A (p.Arg336Lys) c.276+17029C>T (n.276+17029C>T) c.*220+5515G>A (n.*220+5515G>A) c.131G>A (p.Arg44Lys) c.158G>A (p.Arg53Lys) c.1013G>A (p.Arg338Lys) c.827G>A (p.Arg276Lys) c.746G>A (p.Arg249Lys) c.452G>A (p.Arg151Lys) c.833G>A (p.Arg278Lys) | |
2 | g.48688710T>A | CA346749746 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1087A>T (p.Arg363Trp) c.948-571A>T (n.948-571A>T) c.3441+17030T>A (n.3441+17030T>A) c.948-127A>T (n.948-127A>T) c.1006A>T (p.Arg336Trp) c.276+17030T>A (n.276+17030T>A) c.*220+5514A>T (n.*220+5514A>T) c.130A>T (p.Arg44Trp) c.157A>T (p.Arg53Trp) c.1012A>T (p.Arg338Trp) c.826A>T (p.Arg276Trp) c.745A>T (p.Arg249Trp) c.451A>T (p.Arg151Trp) c.832A>T (p.Arg278Trp) | |
2 | g.48688710T>C | CA346749749 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1087A>G (p.Arg363Gly) c.948-571A>G (n.948-571A>G) c.3441+17030T>C (n.3441+17030T>C) c.948-127A>G (n.948-127A>G) c.1006A>G (p.Arg336Gly) c.276+17030T>C (n.276+17030T>C) c.*220+5514A>G (n.*220+5514A>G) c.130A>G (p.Arg44Gly) c.157A>G (p.Arg53Gly) c.1012A>G (p.Arg338Gly) c.826A>G (p.Arg276Gly) c.745A>G (p.Arg249Gly) c.451A>G (p.Arg151Gly) c.832A>G (p.Arg278Gly) | |
2 | g.48688710T>G | CA426124744 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1087A>C (p.Arg363=) c.948-571A>C (n.948-571A>C) c.3441+17030T>G (n.3441+17030T>G) c.948-127A>C (n.948-127A>C) c.1006A>C (p.Arg336=) c.276+17030T>G (n.276+17030T>G) c.*220+5514A>C (n.*220+5514A>C) c.130A>C (p.Arg44=) c.157A>C (p.Arg53=) c.1012A>C (p.Arg338=) c.826A>C (p.Arg276=) c.745A>C (p.Arg249=) c.451A>C (p.Arg151=) c.832A>C (p.Arg278=) | |
2 | g.48688711A>C | CA426124750 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1086T>G (p.Leu362=) c.948-572T>G (n.948-572T>G) c.3441+17031A>C (n.3441+17031A>C) c.948-128T>G (n.948-128T>G) c.1005T>G (p.Leu335=) c.276+17031A>C (n.276+17031A>C) c.*220+5513T>G (n.*220+5513T>G) c.129T>G (p.Leu43=) c.156T>G (p.Leu52=) c.1011T>G (p.Leu337=) c.825T>G (p.Leu275=) c.744T>G (p.Leu248=) c.450T>G (p.Leu150=) c.831T>G (p.Leu277=) | |
2 | g.48688711A>G | CA426124746 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1086T>C (p.Leu362=) c.948-572T>C (n.948-572T>C) c.3441+17031A>G (n.3441+17031A>G) c.948-128T>C (n.948-128T>C) c.1005T>C (p.Leu335=) c.276+17031A>G (n.276+17031A>G) c.*220+5513T>C (n.*220+5513T>C) c.129T>C (p.Leu43=) c.156T>C (p.Leu52=) c.1011T>C (p.Leu337=) c.825T>C (p.Leu275=) c.744T>C (p.Leu248=) c.450T>C (p.Leu150=) c.831T>C (p.Leu277=) | |
2 | g.48688711A>T | CA426124748 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1086T>A (p.Leu362=) c.948-572T>A (n.948-572T>A) c.3441+17031A>T (n.3441+17031A>T) c.948-128T>A (n.948-128T>A) c.1005T>A (p.Leu335=) c.276+17031A>T (n.276+17031A>T) c.*220+5513T>A (n.*220+5513T>A) c.129T>A (p.Leu43=) c.156T>A (p.Leu52=) c.1011T>A (p.Leu337=) c.825T>A (p.Leu275=) c.744T>A (p.Leu248=) c.450T>A (p.Leu150=) c.831T>A (p.Leu277=) | |
2 | g.48688712A>C | CA346749751 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1085T>G (p.Leu362Arg) c.948-573T>G (n.948-573T>G) c.3441+17032A>C (n.3441+17032A>C) c.948-129T>G (n.948-129T>G) c.1004T>G (p.Leu335Arg) c.276+17032A>C (n.276+17032A>C) c.*220+5512T>G (n.*220+5512T>G) c.128T>G (p.Leu43Arg) c.155T>G (p.Leu52Arg) c.1010T>G (p.Leu337Arg) c.824T>G (p.Leu275Arg) c.743T>G (p.Leu248Arg) c.449T>G (p.Leu150Arg) c.830T>G (p.Leu277Arg) | |
2 | g.48688712A>G | CA346749755 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1085T>C (p.Leu362Pro) c.948-573T>C (n.948-573T>C) c.3441+17032A>G (n.3441+17032A>G) c.948-129T>C (n.948-129T>C) c.1004T>C (p.Leu335Pro) c.276+17032A>G (n.276+17032A>G) c.*220+5512T>C (n.*220+5512T>C) c.128T>C (p.Leu43Pro) c.155T>C (p.Leu52Pro) c.1010T>C (p.Leu337Pro) c.824T>C (p.Leu275Pro) c.743T>C (p.Leu248Pro) c.449T>C (p.Leu150Pro) c.830T>C (p.Leu277Pro) | |
2 | g.48688712A>T | CA346749768 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1085T>A (p.Leu362His) c.948-573T>A (n.948-573T>A) c.3441+17032A>T (n.3441+17032A>T) c.948-129T>A (n.948-129T>A) c.1004T>A (p.Leu335His) c.276+17032A>T (n.276+17032A>T) c.*220+5512T>A (n.*220+5512T>A) c.128T>A (p.Leu43His) c.155T>A (p.Leu52His) c.1010T>A (p.Leu337His) c.824T>A (p.Leu275His) c.743T>A (p.Leu248His) c.449T>A (p.Leu150His) c.830T>A (p.Leu277His) | gnomAD v4 |
2 | g.48688713G>A | CA346749771 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1084C>T (p.Leu362Phe) c.948-574C>T (n.948-574C>T) c.3441+17033G>A (n.3441+17033G>A) c.948-130C>T (n.948-130C>T) c.1003C>T (p.Leu335Phe) c.276+17033G>A (n.276+17033G>A) c.*220+5511C>T (n.*220+5511C>T) c.127C>T (p.Leu43Phe) c.154C>T (p.Leu52Phe) c.1009C>T (p.Leu337Phe) c.823C>T (p.Leu275Phe) c.742C>T (p.Leu248Phe) c.448C>T (p.Leu150Phe) c.829C>T (p.Leu277Phe) | gnomAD v4 |
2 | g.48688713G>C | CA346749777 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1084C>G (p.Leu362Val) c.948-574C>G (n.948-574C>G) c.3441+17033G>C (n.3441+17033G>C) c.948-130C>G (n.948-130C>G) c.1003C>G (p.Leu335Val) c.276+17033G>C (n.276+17033G>C) c.*220+5511C>G (n.*220+5511C>G) c.127C>G (p.Leu43Val) c.154C>G (p.Leu52Val) c.1009C>G (p.Leu337Val) c.823C>G (p.Leu275Val) c.742C>G (p.Leu248Val) c.448C>G (p.Leu150Val) c.829C>G (p.Leu277Val) | |
2 | g.48688713G>T | CA346749775 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1084C>A (p.Leu362Ile) c.948-574C>A (n.948-574C>A) c.3441+17033G>T (n.3441+17033G>T) c.948-130C>A (n.948-130C>A) c.1003C>A (p.Leu335Ile) c.276+17033G>T (n.276+17033G>T) c.*220+5511C>A (n.*220+5511C>A) c.127C>A (p.Leu43Ile) c.154C>A (p.Leu52Ile) c.1009C>A (p.Leu337Ile) c.823C>A (p.Leu275Ile) c.742C>A (p.Leu248Ile) c.448C>A (p.Leu150Ile) c.829C>A (p.Leu277Ile) | |
2 | g.48688714G>A | CA426124751 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1083C>T (p.Phe361=) c.948-575C>T (n.948-575C>T) c.3441+17034G>A (n.3441+17034G>A) c.948-131C>T (n.948-131C>T) c.1002C>T (p.Phe334=) c.276+17034G>A (n.276+17034G>A) c.*220+5510C>T (n.*220+5510C>T) c.126C>T (p.Phe42=) c.153C>T (p.Phe51=) c.1008C>T (p.Phe336=) c.822C>T (p.Phe274=) c.741C>T (p.Phe247=) c.447C>T (p.Phe149=) c.828C>T (p.Phe276=) | COSMIC |
2 | g.48688714G>C | CA346749780 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1083C>G (p.Phe361Leu) c.948-575C>G (n.948-575C>G) c.3441+17034G>C (n.3441+17034G>C) c.948-131C>G (n.948-131C>G) c.1002C>G (p.Phe334Leu) c.276+17034G>C (n.276+17034G>C) c.*220+5510C>G (n.*220+5510C>G) c.126C>G (p.Phe42Leu) c.153C>G (p.Phe51Leu) c.1008C>G (p.Phe336Leu) c.822C>G (p.Phe274Leu) c.741C>G (p.Phe247Leu) c.447C>G (p.Phe149Leu) c.828C>G (p.Phe276Leu) | |
2 | g.48688714G>T | CA346749781 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1083C>A (p.Phe361Leu) c.948-575C>A (n.948-575C>A) c.3441+17034G>T (n.3441+17034G>T) c.948-131C>A (n.948-131C>A) c.1002C>A (p.Phe334Leu) c.276+17034G>T (n.276+17034G>T) c.*220+5510C>A (n.*220+5510C>A) c.126C>A (p.Phe42Leu) c.153C>A (p.Phe51Leu) c.1008C>A (p.Phe336Leu) c.822C>A (p.Phe274Leu) c.741C>A (p.Phe247Leu) c.447C>A (p.Phe149Leu) c.828C>A (p.Phe276Leu) | |
2 | g.48688715A= | CA1248601243 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1082T= (p.Phe361=) c.948-576T= (n.948-576T=) c.3441+17035A= (n.3441+17035A=) c.948-132T= (n.948-132T=) c.1001T= (p.Phe334=) c.276+17035A= (n.276+17035A=) c.*220+5509T= (n.*220+5509T=) c.125T= (p.Phe42=) c.152T= (p.Phe51=) c.1007T= (p.Phe336=) c.821T= (p.Phe274=) c.740T= (p.Phe247=) c.446T= (p.Phe149=) c.827T= (p.Phe276=) | |
2 | g.48688715A>C | CA346749782 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1082T>G (p.Phe361Cys) c.948-576T>G (n.948-576T>G) c.3441+17035A>C (n.3441+17035A>C) c.948-132T>G (n.948-132T>G) c.1001T>G (p.Phe334Cys) c.276+17035A>C (n.276+17035A>C) c.*220+5509T>G (n.*220+5509T>G) c.125T>G (p.Phe42Cys) c.152T>G (p.Phe51Cys) c.1007T>G (p.Phe336Cys) c.821T>G (p.Phe274Cys) c.740T>G (p.Phe247Cys) c.446T>G (p.Phe149Cys) c.827T>G (p.Phe276Cys) | COSMIC |
2 | g.48688715A>G | CA1653084 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1082T>C (p.Phe361Ser) c.948-576T>C (n.948-576T>C) c.3441+17035A>G (n.3441+17035A>G) c.948-132T>C (n.948-132T>C) c.1001T>C (p.Phe334Ser) c.276+17035A>G (n.276+17035A>G) c.*220+5509T>C (n.*220+5509T>C) c.125T>C (p.Phe42Ser) c.152T>C (p.Phe51Ser) c.1007T>C (p.Phe336Ser) c.821T>C (p.Phe274Ser) c.740T>C (p.Phe247Ser) c.446T>C (p.Phe149Ser) c.827T>C (p.Phe276Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48688715A>T | CA346749785 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1082T>A (p.Phe361Tyr) c.948-576T>A (n.948-576T>A) c.3441+17035A>T (n.3441+17035A>T) c.948-132T>A (n.948-132T>A) c.1001T>A (p.Phe334Tyr) c.276+17035A>T (n.276+17035A>T) c.*220+5509T>A (n.*220+5509T>A) c.125T>A (p.Phe42Tyr) c.152T>A (p.Phe51Tyr) c.1007T>A (p.Phe336Tyr) c.821T>A (p.Phe274Tyr) c.740T>A (p.Phe247Tyr) c.446T>A (p.Phe149Tyr) c.827T>A (p.Phe276Tyr) | |
2 | g.48688716A>C | CA346749786 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1081T>G (p.Phe361Val) c.948-577T>G (n.948-577T>G) c.3441+17036A>C (n.3441+17036A>C) c.948-133T>G (n.948-133T>G) c.1000T>G (p.Phe334Val) c.276+17036A>C (n.276+17036A>C) c.*220+5508T>G (n.*220+5508T>G) c.124T>G (p.Phe42Val) c.151T>G (p.Phe51Val) c.1006T>G (p.Phe336Val) c.820T>G (p.Phe274Val) c.739T>G (p.Phe247Val) c.445T>G (p.Phe149Val) c.826T>G (p.Phe276Val) | |
2 | g.48688716A>G | CA346749789 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1081T>C (p.Phe361Leu) c.948-577T>C (n.948-577T>C) c.3441+17036A>G (n.3441+17036A>G) c.948-133T>C (n.948-133T>C) c.1000T>C (p.Phe334Leu) c.276+17036A>G (n.276+17036A>G) c.*220+5508T>C (n.*220+5508T>C) c.124T>C (p.Phe42Leu) c.151T>C (p.Phe51Leu) c.1006T>C (p.Phe336Leu) c.820T>C (p.Phe274Leu) c.739T>C (p.Phe247Leu) c.445T>C (p.Phe149Leu) c.826T>C (p.Phe276Leu) | |
2 | g.48688716A>T | CA346749788 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1081T>A (p.Phe361Ile) c.948-577T>A (n.948-577T>A) c.3441+17036A>T (n.3441+17036A>T) c.948-133T>A (n.948-133T>A) c.1000T>A (p.Phe334Ile) c.276+17036A>T (n.276+17036A>T) c.*220+5508T>A (n.*220+5508T>A) c.124T>A (p.Phe42Ile) c.151T>A (p.Phe51Ile) c.1006T>A (p.Phe336Ile) c.820T>A (p.Phe274Ile) c.739T>A (p.Phe247Ile) c.445T>A (p.Phe149Ile) c.826T>A (p.Phe276Ile) | |
2 | g.48688717G>A | CA426124753 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1080C>T (p.Asp360=) c.948-578C>T (n.948-578C>T) c.3441+17037G>A (n.3441+17037G>A) c.948-134C>T (n.948-134C>T) c.999C>T (p.Asp333=) c.276+17037G>A (n.276+17037G>A) c.*220+5507C>T (n.*220+5507C>T) c.123C>T (p.Asp41=) c.150C>T (p.Asp50=) c.1005C>T (p.Asp335=) c.819C>T (p.Asp273=) c.738C>T (p.Asp246=) c.444C>T (p.Asp148=) c.825C>T (p.Asp275=) | |
2 | g.48688717G>C | CA346749792 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1080C>G (p.Asp360Glu) c.948-578C>G (n.948-578C>G) c.3441+17037G>C (n.3441+17037G>C) c.948-134C>G (n.948-134C>G) c.999C>G (p.Asp333Glu) c.276+17037G>C (n.276+17037G>C) c.*220+5507C>G (n.*220+5507C>G) c.123C>G (p.Asp41Glu) c.150C>G (p.Asp50Glu) c.1005C>G (p.Asp335Glu) c.819C>G (p.Asp273Glu) c.738C>G (p.Asp246Glu) c.444C>G (p.Asp148Glu) c.825C>G (p.Asp275Glu) | |
2 | g.48688717G>T | CA346749797 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1080C>A (p.Asp360Glu) c.948-578C>A (n.948-578C>A) c.3441+17037G>T (n.3441+17037G>T) c.948-134C>A (n.948-134C>A) c.999C>A (p.Asp333Glu) c.276+17037G>T (n.276+17037G>T) c.*220+5507C>A (n.*220+5507C>A) c.123C>A (p.Asp41Glu) c.150C>A (p.Asp50Glu) c.1005C>A (p.Asp335Glu) c.819C>A (p.Asp273Glu) c.738C>A (p.Asp246Glu) c.444C>A (p.Asp148Glu) c.825C>A (p.Asp275Glu) | |
2 | g.48688718T>A | CA346749802 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1079A>T (p.Asp360Val) c.948-579A>T (n.948-579A>T) c.3441+17038T>A (n.3441+17038T>A) c.948-135A>T (n.948-135A>T) c.998A>T (p.Asp333Val) c.276+17038T>A (n.276+17038T>A) c.*220+5506A>T (n.*220+5506A>T) c.122A>T (p.Asp41Val) c.149A>T (p.Asp50Val) c.1004A>T (p.Asp335Val) c.818A>T (p.Asp273Val) c.737A>T (p.Asp246Val) c.443A>T (p.Asp148Val) c.824A>T (p.Asp275Val) | |
2 | g.48688718T>C | CA346749804 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1079A>G (p.Asp360Gly) c.948-579A>G (n.948-579A>G) c.3441+17038T>C (n.3441+17038T>C) c.948-135A>G (n.948-135A>G) c.998A>G (p.Asp333Gly) c.276+17038T>C (n.276+17038T>C) c.*220+5506A>G (n.*220+5506A>G) c.122A>G (p.Asp41Gly) c.149A>G (p.Asp50Gly) c.1004A>G (p.Asp335Gly) c.818A>G (p.Asp273Gly) c.737A>G (p.Asp246Gly) c.443A>G (p.Asp148Gly) c.824A>G (p.Asp275Gly) | |
2 | g.48688718T>G | CA346749807 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1079A>C (p.Asp360Ala) c.948-579A>C (n.948-579A>C) c.3441+17038T>G (n.3441+17038T>G) c.948-135A>C (n.948-135A>C) c.998A>C (p.Asp333Ala) c.276+17038T>G (n.276+17038T>G) c.*220+5506A>C (n.*220+5506A>C) c.122A>C (p.Asp41Ala) c.149A>C (p.Asp50Ala) c.1004A>C (p.Asp335Ala) c.818A>C (p.Asp273Ala) c.737A>C (p.Asp246Ala) c.443A>C (p.Asp148Ala) c.824A>C (p.Asp275Ala) | |
2 | g.48688719_48688721del | CA2749836838 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1077_1079del (p.Asp360del) c.948-581_948-579del (n.948-581_948-579del) c.3441+17039_3441+17041del (n.3441+17039_3441+17041del) c.948-137_948-135del (n.948-137_948-135del) c.996_998del (p.Asp333del) c.276+17039_276+17041del (n.276+17039_276+17041del) c.*220+5504_*220+5506del (n.*220+5504_*220+5506del) c.120_122del (p.Asp41del) c.147_149del (p.Asp50del) c.1002_1004del (p.Asp335del) c.816_818del (p.Asp273del) c.735_737del (p.Asp246del) c.441_443del (p.Asp148del) c.822_824del (p.Asp275del) | |
2 | g.48688719C>A | CA346749810 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1078G>T (p.Asp360Tyr) c.948-580G>T (n.948-580G>T) c.3441+17039C>A (n.3441+17039C>A) c.948-136G>T (n.948-136G>T) c.997G>T (p.Asp333Tyr) c.276+17039C>A (n.276+17039C>A) c.*220+5505G>T (n.*220+5505G>T) c.121G>T (p.Asp41Tyr) c.148G>T (p.Asp50Tyr) c.1003G>T (p.Asp335Tyr) c.817G>T (p.Asp273Tyr) c.736G>T (p.Asp246Tyr) c.442G>T (p.Asp148Tyr) c.823G>T (p.Asp275Tyr) | gnomAD v4 |
2 | g.48688719C>G | CA346749812 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1078G>C (p.Asp360His) c.948-580G>C (n.948-580G>C) c.3441+17039C>G (n.3441+17039C>G) c.948-136G>C (n.948-136G>C) c.997G>C (p.Asp333His) c.276+17039C>G (n.276+17039C>G) c.*220+5505G>C (n.*220+5505G>C) c.121G>C (p.Asp41His) c.148G>C (p.Asp50His) c.1003G>C (p.Asp335His) c.817G>C (p.Asp273His) c.736G>C (p.Asp246His) c.442G>C (p.Asp148His) c.823G>C (p.Asp275His) | gnomAD v4 |
2 | g.48688719C>T | CA346749820 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1078G>A (p.Asp360Asn) c.948-580G>A (n.948-580G>A) c.3441+17039C>T (n.3441+17039C>T) c.948-136G>A (n.948-136G>A) c.997G>A (p.Asp333Asn) c.276+17039C>T (n.276+17039C>T) c.*220+5505G>A (n.*220+5505G>A) c.121G>A (p.Asp41Asn) c.148G>A (p.Asp50Asn) c.1003G>A (p.Asp335Asn) c.817G>A (p.Asp273Asn) c.736G>A (p.Asp246Asn) c.442G>A (p.Asp148Asn) c.823G>A (p.Asp275Asn) | |
2 | g.48688720A>C | CA346749822 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1077T>G (p.Tyr359Ter) c.948-581T>G (n.948-581T>G) c.3441+17040A>C (n.3441+17040A>C) c.948-137T>G (n.948-137T>G) c.996T>G (p.Tyr332Ter) c.276+17040A>C (n.276+17040A>C) c.*220+5504T>G (n.*220+5504T>G) c.120T>G (p.Tyr40Ter) c.147T>G (p.Tyr49Ter) c.1002T>G (p.Tyr334Ter) c.816T>G (p.Tyr272Ter) c.735T>G (p.Tyr245Ter) c.441T>G (p.Tyr147Ter) c.822T>G (p.Tyr274Ter) | |
2 | g.48688720A>G | CA426124755 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1077T>C (p.Tyr359=) c.948-581T>C (n.948-581T>C) c.3441+17040A>G (n.3441+17040A>G) c.948-137T>C (n.948-137T>C) c.996T>C (p.Tyr332=) c.276+17040A>G (n.276+17040A>G) c.*220+5504T>C (n.*220+5504T>C) c.120T>C (p.Tyr40=) c.147T>C (p.Tyr49=) c.1002T>C (p.Tyr334=) c.816T>C (p.Tyr272=) c.735T>C (p.Tyr245=) c.441T>C (p.Tyr147=) c.822T>C (p.Tyr274=) | |
2 | g.48688720A>T | CA346749824 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1077T>A (p.Tyr359Ter) c.948-581T>A (n.948-581T>A) c.3441+17040A>T (n.3441+17040A>T) c.948-137T>A (n.948-137T>A) c.996T>A (p.Tyr332Ter) c.276+17040A>T (n.276+17040A>T) c.*220+5504T>A (n.*220+5504T>A) c.120T>A (p.Tyr40Ter) c.147T>A (p.Tyr49Ter) c.1002T>A (p.Tyr334Ter) c.816T>A (p.Tyr272Ter) c.735T>A (p.Tyr245Ter) c.441T>A (p.Tyr147Ter) c.822T>A (p.Tyr274Ter) | |
2 | g.48688721T>A | CA346749825 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1076A>T (p.Tyr359Phe) c.948-582A>T (n.948-582A>T) c.3441+17041T>A (n.3441+17041T>A) c.948-138A>T (n.948-138A>T) c.995A>T (p.Tyr332Phe) c.276+17041T>A (n.276+17041T>A) c.*220+5503A>T (n.*220+5503A>T) c.119A>T (p.Tyr40Phe) c.146A>T (p.Tyr49Phe) c.1001A>T (p.Tyr334Phe) c.815A>T (p.Tyr272Phe) c.734A>T (p.Tyr245Phe) c.440A>T (p.Tyr147Phe) c.821A>T (p.Tyr274Phe) | |
2 | g.48688721T>C | CA346749827 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1076A>G (p.Tyr359Cys) c.948-582A>G (n.948-582A>G) c.3441+17041T>C (n.3441+17041T>C) c.948-138A>G (n.948-138A>G) c.995A>G (p.Tyr332Cys) c.276+17041T>C (n.276+17041T>C) c.*220+5503A>G (n.*220+5503A>G) c.119A>G (p.Tyr40Cys) c.146A>G (p.Tyr49Cys) c.1001A>G (p.Tyr334Cys) c.815A>G (p.Tyr272Cys) c.734A>G (p.Tyr245Cys) c.440A>G (p.Tyr147Cys) c.821A>G (p.Tyr274Cys) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48688721T>G | CA346749828 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1076A>C (p.Tyr359Ser) c.948-582A>C (n.948-582A>C) c.3441+17041T>G (n.3441+17041T>G) c.948-138A>C (n.948-138A>C) c.995A>C (p.Tyr332Ser) c.276+17041T>G (n.276+17041T>G) c.*220+5503A>C (n.*220+5503A>C) c.119A>C (p.Tyr40Ser) c.146A>C (p.Tyr49Ser) c.1001A>C (p.Tyr334Ser) c.815A>C (p.Tyr272Ser) c.734A>C (p.Tyr245Ser) c.440A>C (p.Tyr147Ser) c.821A>C (p.Tyr274Ser) | |
2 | g.48688721T= | CA1248601244 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1076A= (p.Tyr359=) c.948-582A= (n.948-582A=) c.3441+17041T= (n.3441+17041T=) c.948-138A= (n.948-138A=) c.995A= (p.Tyr332=) c.276+17041T= (n.276+17041T=) c.*220+5503A= (n.*220+5503A=) c.119A= (p.Tyr40=) c.146A= (p.Tyr49=) c.1001A= (p.Tyr334=) c.815A= (p.Tyr272=) c.734A= (p.Tyr245=) c.440A= (p.Tyr147=) c.821A= (p.Tyr274=) | |
2 | g.48688722A>C | CA346749831 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1075T>G (p.Tyr359Asp) c.948-583T>G (n.948-583T>G) c.3441+17042A>C (n.3441+17042A>C) c.948-139T>G (n.948-139T>G) c.994T>G (p.Tyr332Asp) c.276+17042A>C (n.276+17042A>C) c.*220+5502T>G (n.*220+5502T>G) c.118T>G (p.Tyr40Asp) c.145T>G (p.Tyr49Asp) c.1000T>G (p.Tyr334Asp) c.814T>G (p.Tyr272Asp) c.733T>G (p.Tyr245Asp) c.439T>G (p.Tyr147Asp) c.820T>G (p.Tyr274Asp) | |
2 | g.48688722A>G | CA346749835 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1075T>C (p.Tyr359His) c.948-583T>C (n.948-583T>C) c.3441+17042A>G (n.3441+17042A>G) c.948-139T>C (n.948-139T>C) c.994T>C (p.Tyr332His) c.276+17042A>G (n.276+17042A>G) c.*220+5502T>C (n.*220+5502T>C) c.118T>C (p.Tyr40His) c.145T>C (p.Tyr49His) c.1000T>C (p.Tyr334His) c.814T>C (p.Tyr272His) c.733T>C (p.Tyr245His) c.439T>C (p.Tyr147His) c.820T>C (p.Tyr274His) | |
2 | g.48688722A>T | CA346749834 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1075T>A (p.Tyr359Asn) c.948-583T>A (n.948-583T>A) c.3441+17042A>T (n.3441+17042A>T) c.948-139T>A (n.948-139T>A) c.994T>A (p.Tyr332Asn) c.276+17042A>T (n.276+17042A>T) c.*220+5502T>A (n.*220+5502T>A) c.118T>A (p.Tyr40Asn) c.145T>A (p.Tyr49Asn) c.1000T>A (p.Tyr334Asn) c.814T>A (p.Tyr272Asn) c.733T>A (p.Tyr245Asn) c.439T>A (p.Tyr147Asn) c.820T>A (p.Tyr274Asn) | |
2 | g.48688723G>A | CA426124759 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1074C>T (p.Gly358=) c.948-584C>T (n.948-584C>T) c.3441+17043G>A (n.3441+17043G>A) c.948-140C>T (n.948-140C>T) c.993C>T (p.Gly331=) c.276+17043G>A (n.276+17043G>A) c.*220+5501C>T (n.*220+5501C>T) c.117C>T (p.Gly39=) c.144C>T (p.Gly48=) c.999C>T (p.Gly333=) c.813C>T (p.Gly271=) c.732C>T (p.Gly244=) c.438C>T (p.Gly146=) c.819C>T (p.Gly273=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688723G>C | CA426124760 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1074C>G (p.Gly358=) c.948-584C>G (n.948-584C>G) c.3441+17043G>C (n.3441+17043G>C) c.948-140C>G (n.948-140C>G) c.993C>G (p.Gly331=) c.276+17043G>C (n.276+17043G>C) c.*220+5501C>G (n.*220+5501C>G) c.117C>G (p.Gly39=) c.144C>G (p.Gly48=) c.999C>G (p.Gly333=) c.813C>G (p.Gly271=) c.732C>G (p.Gly244=) c.438C>G (p.Gly146=) c.819C>G (p.Gly273=) | |
2 | g.48688723G= | CA1248601245 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1074C= (p.Gly358=) c.948-584C= (n.948-584C=) c.3441+17043G= (n.3441+17043G=) c.948-140C= (n.948-140C=) c.993C= (p.Gly331=) c.276+17043G= (n.276+17043G=) c.*220+5501C= (n.*220+5501C=) c.117C= (p.Gly39=) c.144C= (p.Gly48=) c.999C= (p.Gly333=) c.813C= (p.Gly271=) c.732C= (p.Gly244=) c.438C= (p.Gly146=) c.819C= (p.Gly273=) | |
2 | g.48688723G>T | CA426124761 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1074C>A (p.Gly358=) c.948-584C>A (n.948-584C>A) c.3441+17043G>T (n.3441+17043G>T) c.948-140C>A (n.948-140C>A) c.993C>A (p.Gly331=) c.276+17043G>T (n.276+17043G>T) c.*220+5501C>A (n.*220+5501C>A) c.117C>A (p.Gly39=) c.144C>A (p.Gly48=) c.999C>A (p.Gly333=) c.813C>A (p.Gly271=) c.732C>A (p.Gly244=) c.438C>A (p.Gly146=) c.819C>A (p.Gly273=) | |
2 | g.48688724C>A | CA346749838 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1073G>T (p.Gly358Val) c.948-585G>T (n.948-585G>T) c.3441+17044C>A (n.3441+17044C>A) c.948-141G>T (n.948-141G>T) c.992G>T (p.Gly331Val) c.276+17044C>A (n.276+17044C>A) c.*220+5500G>T (n.*220+5500G>T) c.116G>T (p.Gly39Val) c.143G>T (p.Gly48Val) c.998G>T (p.Gly333Val) c.812G>T (p.Gly271Val) c.731G>T (p.Gly244Val) c.437G>T (p.Gly146Val) c.818G>T (p.Gly273Val) | |
2 | g.48688724C= | CA1248601246 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1073G= (p.Gly358=) c.948-585G= (n.948-585G=) c.3441+17044C= (n.3441+17044C=) c.948-141G= (n.948-141G=) c.992G= (p.Gly331=) c.276+17044C= (n.276+17044C=) c.*220+5500G= (n.*220+5500G=) c.116G= (p.Gly39=) c.143G= (p.Gly48=) c.998G= (p.Gly333=) c.812G= (p.Gly271=) c.731G= (p.Gly244=) c.437G= (p.Gly146=) c.818G= (p.Gly273=) | |
2 | g.48688724C>G | CA346749841 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1073G>C (p.Gly358Ala) c.948-585G>C (n.948-585G>C) c.3441+17044C>G (n.3441+17044C>G) c.948-141G>C (n.948-141G>C) c.992G>C (p.Gly331Ala) c.276+17044C>G (n.276+17044C>G) c.*220+5500G>C (n.*220+5500G>C) c.116G>C (p.Gly39Ala) c.143G>C (p.Gly48Ala) c.998G>C (p.Gly333Ala) c.812G>C (p.Gly271Ala) c.731G>C (p.Gly244Ala) c.437G>C (p.Gly146Ala) c.818G>C (p.Gly273Ala) | |
2 | g.48688724C>T | CA346749843 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1073G>A (p.Gly358Asp) c.948-585G>A (n.948-585G>A) c.3441+17044C>T (n.3441+17044C>T) c.948-141G>A (n.948-141G>A) c.992G>A (p.Gly331Asp) c.276+17044C>T (n.276+17044C>T) c.*220+5500G>A (n.*220+5500G>A) c.116G>A (p.Gly39Asp) c.143G>A (p.Gly48Asp) c.998G>A (p.Gly333Asp) c.812G>A (p.Gly271Asp) c.731G>A (p.Gly244Asp) c.437G>A (p.Gly146Asp) c.818G>A (p.Gly273Asp) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48688725C>A | CA346749845 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1072G>T (p.Gly358Cys) c.948-586G>T (n.948-586G>T) c.3441+17045C>A (n.3441+17045C>A) c.948-142G>T (n.948-142G>T) c.991G>T (p.Gly331Cys) c.276+17045C>A (n.276+17045C>A) c.*220+5499G>T (n.*220+5499G>T) c.115G>T (p.Gly39Cys) c.142G>T (p.Gly48Cys) c.997G>T (p.Gly333Cys) c.811G>T (p.Gly271Cys) c.730G>T (p.Gly244Cys) c.436G>T (p.Gly146Cys) c.817G>T (p.Gly273Cys) | |
2 | g.48688725C>G | CA346749847 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1072G>C (p.Gly358Arg) c.948-586G>C (n.948-586G>C) c.3441+17045C>G (n.3441+17045C>G) c.948-142G>C (n.948-142G>C) c.991G>C (p.Gly331Arg) c.276+17045C>G (n.276+17045C>G) c.*220+5499G>C (n.*220+5499G>C) c.115G>C (p.Gly39Arg) c.142G>C (p.Gly48Arg) c.997G>C (p.Gly333Arg) c.811G>C (p.Gly271Arg) c.730G>C (p.Gly244Arg) c.436G>C (p.Gly146Arg) c.817G>C (p.Gly273Arg) | |
2 | g.48688725C>T | CA346749848 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1072G>A (p.Gly358Ser) c.948-586G>A (n.948-586G>A) c.3441+17045C>T (n.3441+17045C>T) c.948-142G>A (n.948-142G>A) c.991G>A (p.Gly331Ser) c.276+17045C>T (n.276+17045C>T) c.*220+5499G>A (n.*220+5499G>A) c.115G>A (p.Gly39Ser) c.142G>A (p.Gly48Ser) c.997G>A (p.Gly333Ser) c.811G>A (p.Gly271Ser) c.730G>A (p.Gly244Ser) c.436G>A (p.Gly146Ser) c.817G>A (p.Gly273Ser) | |
2 | g.48688726C>A | CA346749850 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1071G>T (p.Met357Ile) c.948-587G>T (n.948-587G>T) c.3441+17046C>A (n.3441+17046C>A) c.948-143G>T (n.948-143G>T) c.990G>T (p.Met330Ile) c.276+17046C>A (n.276+17046C>A) c.*220+5498G>T (n.*220+5498G>T) c.114G>T (p.Met38Ile) c.141G>T (p.Met47Ile) c.996G>T (p.Met332Ile) c.810G>T (p.Met270Ile) c.729G>T (p.Met243Ile) c.435G>T (p.Met145Ile) c.816G>T (p.Met272Ile) | |
2 | g.48688726C= | CA1248601247 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1071G= (p.Met357=) c.948-587G= (n.948-587G=) c.3441+17046C= (n.3441+17046C=) c.948-143G= (n.948-143G=) c.990G= (p.Met330=) c.276+17046C= (n.276+17046C=) c.*220+5498G= (n.*220+5498G=) c.114G= (p.Met38=) c.141G= (p.Met47=) c.996G= (p.Met332=) c.810G= (p.Met270=) c.729G= (p.Met243=) c.435G= (p.Met145=) c.816G= (p.Met272=) | |
2 | g.48688726C>G | CA346749853 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1071G>C (p.Met357Ile) c.948-587G>C (n.948-587G>C) c.3441+17046C>G (n.3441+17046C>G) c.948-143G>C (n.948-143G>C) c.990G>C (p.Met330Ile) c.276+17046C>G (n.276+17046C>G) c.*220+5498G>C (n.*220+5498G>C) c.114G>C (p.Met38Ile) c.141G>C (p.Met47Ile) c.996G>C (p.Met332Ile) c.810G>C (p.Met270Ile) c.729G>C (p.Met243Ile) c.435G>C (p.Met145Ile) c.816G>C (p.Met272Ile) | |
2 | g.48688726C>T | CA1653085 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1071G>A (p.Met357Ile) c.948-587G>A (n.948-587G>A) c.3441+17046C>T (n.3441+17046C>T) c.948-143G>A (n.948-143G>A) c.990G>A (p.Met330Ile) c.276+17046C>T (n.276+17046C>T) c.*220+5498G>A (n.*220+5498G>A) c.114G>A (p.Met38Ile) c.141G>A (p.Met47Ile) c.996G>A (p.Met332Ile) c.810G>A (p.Met270Ile) c.729G>A (p.Met243Ile) c.435G>A (p.Met145Ile) c.816G>A (p.Met272Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48688727A>C | CA346749855 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1070T>G (p.Met357Arg) c.948-588T>G (n.948-588T>G) c.3441+17047A>C (n.3441+17047A>C) c.948-144T>G (n.948-144T>G) c.989T>G (p.Met330Arg) c.276+17047A>C (n.276+17047A>C) c.*220+5497T>G (n.*220+5497T>G) c.113T>G (p.Met38Arg) c.140T>G (p.Met47Arg) c.995T>G (p.Met332Arg) c.809T>G (p.Met270Arg) c.728T>G (p.Met243Arg) c.434T>G (p.Met145Arg) c.815T>G (p.Met272Arg) | |
2 | g.48688727A>G | CA346749856 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1070T>C (p.Met357Thr) c.948-588T>C (n.948-588T>C) c.3441+17047A>G (n.3441+17047A>G) c.948-144T>C (n.948-144T>C) c.989T>C (p.Met330Thr) c.276+17047A>G (n.276+17047A>G) c.*220+5497T>C (n.*220+5497T>C) c.113T>C (p.Met38Thr) c.140T>C (p.Met47Thr) c.995T>C (p.Met332Thr) c.809T>C (p.Met270Thr) c.728T>C (p.Met243Thr) c.434T>C (p.Met145Thr) c.815T>C (p.Met272Thr) | |
2 | g.48688727A>T | CA346749859 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1070T>A (p.Met357Lys) c.948-588T>A (n.948-588T>A) c.3441+17047A>T (n.3441+17047A>T) c.948-144T>A (n.948-144T>A) c.989T>A (p.Met330Lys) c.276+17047A>T (n.276+17047A>T) c.*220+5497T>A (n.*220+5497T>A) c.113T>A (p.Met38Lys) c.140T>A (p.Met47Lys) c.995T>A (p.Met332Lys) c.809T>A (p.Met270Lys) c.728T>A (p.Met243Lys) c.434T>A (p.Met145Lys) c.815T>A (p.Met272Lys) | |
2 | g.48688728T>A | CA346749861 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1069A>T (p.Met357Leu) c.948-589A>T (n.948-589A>T) c.3441+17048T>A (n.3441+17048T>A) c.948-145A>T (n.948-145A>T) c.988A>T (p.Met330Leu) c.276+17048T>A (n.276+17048T>A) c.*220+5496A>T (n.*220+5496A>T) c.112A>T (p.Met38Leu) c.139A>T (p.Met47Leu) c.994A>T (p.Met332Leu) c.808A>T (p.Met270Leu) c.727A>T (p.Met243Leu) c.433A>T (p.Met145Leu) c.814A>T (p.Met272Leu) | |
2 | g.48688728T>C | CA346749862 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1069A>G (p.Met357Val) c.948-589A>G (n.948-589A>G) c.3441+17048T>C (n.3441+17048T>C) c.948-145A>G (n.948-145A>G) c.988A>G (p.Met330Val) c.276+17048T>C (n.276+17048T>C) c.*220+5496A>G (n.*220+5496A>G) c.112A>G (p.Met38Val) c.139A>G (p.Met47Val) c.994A>G (p.Met332Val) c.808A>G (p.Met270Val) c.727A>G (p.Met243Val) c.433A>G (p.Met145Val) c.814A>G (p.Met272Val) | |
2 | g.48688728T>G | CA346749860 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1069A>C (p.Met357Leu) c.948-589A>C (n.948-589A>C) c.3441+17048T>G (n.3441+17048T>G) c.948-145A>C (n.948-145A>C) c.988A>C (p.Met330Leu) c.276+17048T>G (n.276+17048T>G) c.*220+5496A>C (n.*220+5496A>C) c.112A>C (p.Met38Leu) c.139A>C (p.Met47Leu) c.994A>C (p.Met332Leu) c.808A>C (p.Met270Leu) c.727A>C (p.Met243Leu) c.433A>C (p.Met145Leu) c.814A>C (p.Met272Leu) | |
2 | g.48688729A>C | CA346749864 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1068T>G (p.Ile356Met) c.948-590T>G (n.948-590T>G) c.3441+17049A>C (n.3441+17049A>C) c.948-146T>G (n.948-146T>G) c.987T>G (p.Ile329Met) c.276+17049A>C (n.276+17049A>C) c.*220+5495T>G (n.*220+5495T>G) c.111T>G (p.Ile37Met) c.138T>G (p.Ile46Met) c.993T>G (p.Ile331Met) c.807T>G (p.Ile269Met) c.726T>G (p.Ile242Met) c.432T>G (p.Ile144Met) c.813T>G (p.Ile271Met) | |
2 | g.48688729A>G | CA426124763 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1068T>C (p.Ile356=) c.948-590T>C (n.948-590T>C) c.3441+17049A>G (n.3441+17049A>G) c.948-146T>C (n.948-146T>C) c.987T>C (p.Ile329=) c.276+17049A>G (n.276+17049A>G) c.*220+5495T>C (n.*220+5495T>C) c.111T>C (p.Ile37=) c.138T>C (p.Ile46=) c.993T>C (p.Ile331=) c.807T>C (p.Ile269=) c.726T>C (p.Ile242=) c.432T>C (p.Ile144=) c.813T>C (p.Ile271=) | |
2 | g.48688729A>T | CA426124764 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1068T>A (p.Ile356=) c.948-590T>A (n.948-590T>A) c.3441+17049A>T (n.3441+17049A>T) c.948-146T>A (n.948-146T>A) c.987T>A (p.Ile329=) c.276+17049A>T (n.276+17049A>T) c.*220+5495T>A (n.*220+5495T>A) c.111T>A (p.Ile37=) c.138T>A (p.Ile46=) c.993T>A (p.Ile331=) c.807T>A (p.Ile269=) c.726T>A (p.Ile242=) c.432T>A (p.Ile144=) c.813T>A (p.Ile271=) | |
2 | g.48688730A>C | CA346749866 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1067T>G (p.Ile356Ser) c.948-591T>G (n.948-591T>G) c.3441+17050A>C (n.3441+17050A>C) c.948-147T>G (n.948-147T>G) c.986T>G (p.Ile329Ser) c.276+17050A>C (n.276+17050A>C) c.*220+5494T>G (n.*220+5494T>G) c.110T>G (p.Ile37Ser) c.137T>G (p.Ile46Ser) c.992T>G (p.Ile331Ser) c.806T>G (p.Ile269Ser) c.725T>G (p.Ile242Ser) c.431T>G (p.Ile144Ser) c.812T>G (p.Ile271Ser) | |
2 | g.48688730A>G | CA346749867 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1067T>C (p.Ile356Thr) c.948-591T>C (n.948-591T>C) c.3441+17050A>G (n.3441+17050A>G) c.948-147T>C (n.948-147T>C) c.986T>C (p.Ile329Thr) c.276+17050A>G (n.276+17050A>G) c.*220+5494T>C (n.*220+5494T>C) c.110T>C (p.Ile37Thr) c.137T>C (p.Ile46Thr) c.992T>C (p.Ile331Thr) c.806T>C (p.Ile269Thr) c.725T>C (p.Ile242Thr) c.431T>C (p.Ile144Thr) c.812T>C (p.Ile271Thr) | |
2 | g.48688730A>T | CA346749868 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1067T>A (p.Ile356Asn) c.948-591T>A (n.948-591T>A) c.3441+17050A>T (n.3441+17050A>T) c.948-147T>A (n.948-147T>A) c.986T>A (p.Ile329Asn) c.276+17050A>T (n.276+17050A>T) c.*220+5494T>A (n.*220+5494T>A) c.110T>A (p.Ile37Asn) c.137T>A (p.Ile46Asn) c.992T>A (p.Ile331Asn) c.806T>A (p.Ile269Asn) c.725T>A (p.Ile242Asn) c.431T>A (p.Ile144Asn) c.812T>A (p.Ile271Asn) | gnomAD v4 |
2 | g.48688731T>A | CA346749874 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1066A>T (p.Ile356Phe) c.948-592A>T (n.948-592A>T) c.3441+17051T>A (n.3441+17051T>A) c.948-148A>T (n.948-148A>T) c.985A>T (p.Ile329Phe) c.276+17051T>A (n.276+17051T>A) c.*220+5493A>T (n.*220+5493A>T) c.109A>T (p.Ile37Phe) c.136A>T (p.Ile46Phe) c.991A>T (p.Ile331Phe) c.805A>T (p.Ile269Phe) c.724A>T (p.Ile242Phe) c.430A>T (p.Ile144Phe) c.811A>T (p.Ile271Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688731T>C | CA346749871 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1066A>G (p.Ile356Val) c.948-592A>G (n.948-592A>G) c.3441+17051T>C (n.3441+17051T>C) c.948-148A>G (n.948-148A>G) c.985A>G (p.Ile329Val) c.276+17051T>C (n.276+17051T>C) c.*220+5493A>G (n.*220+5493A>G) c.109A>G (p.Ile37Val) c.136A>G (p.Ile46Val) c.991A>G (p.Ile331Val) c.805A>G (p.Ile269Val) c.724A>G (p.Ile242Val) c.430A>G (p.Ile144Val) c.811A>G (p.Ile271Val) | dbSNP gnomAD v2 |
2 | g.48688731T>G | CA346749869 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1066A>C (p.Ile356Leu) c.948-592A>C (n.948-592A>C) c.3441+17051T>G (n.3441+17051T>G) c.948-148A>C (n.948-148A>C) c.985A>C (p.Ile329Leu) c.276+17051T>G (n.276+17051T>G) c.*220+5493A>C (n.*220+5493A>C) c.109A>C (p.Ile37Leu) c.136A>C (p.Ile46Leu) c.991A>C (p.Ile331Leu) c.805A>C (p.Ile269Leu) c.724A>C (p.Ile242Leu) c.430A>C (p.Ile144Leu) c.811A>C (p.Ile271Leu) | |
2 | g.48688731T= | CA1248601248 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1066A= (p.Ile356=) c.948-592A= (n.948-592A=) c.3441+17051T= (n.3441+17051T=) c.948-148A= (n.948-148A=) c.985A= (p.Ile329=) c.276+17051T= (n.276+17051T=) c.*220+5493A= (n.*220+5493A=) c.109A= (p.Ile37=) c.136A= (p.Ile46=) c.991A= (p.Ile331=) c.805A= (p.Ile269=) c.724A= (p.Ile242=) c.430A= (p.Ile144=) c.811A= (p.Ile271=) | |
2 | g.48688732A= | CA1248601249 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1065T= (p.Asp355=) c.948-593T= (n.948-593T=) c.3441+17052A= (n.3441+17052A=) c.948-149T= (n.948-149T=) c.984T= (p.Asp328=) c.276+17052A= (n.276+17052A=) c.*220+5492T= (n.*220+5492T=) c.108T= (p.Asp36=) c.135T= (p.Asp45=) c.990T= (p.Asp330=) c.804T= (p.Asp268=) c.723T= (p.Asp241=) c.429T= (p.Asp143=) c.810T= (p.Asp270=) | |
2 | g.48688732A>C | CA346749875 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1065T>G (p.Asp355Glu) c.948-593T>G (n.948-593T>G) c.3441+17052A>C (n.3441+17052A>C) c.948-149T>G (n.948-149T>G) c.984T>G (p.Asp328Glu) c.276+17052A>C (n.276+17052A>C) c.*220+5492T>G (n.*220+5492T>G) c.108T>G (p.Asp36Glu) c.135T>G (p.Asp45Glu) c.990T>G (p.Asp330Glu) c.804T>G (p.Asp268Glu) c.723T>G (p.Asp241Glu) c.429T>G (p.Asp143Glu) c.810T>G (p.Asp270Glu) | dbSNP |
2 | g.48688732A>G | CA1653086 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1065T>C (p.Asp355=) c.948-593T>C (n.948-593T>C) c.3441+17052A>G (n.3441+17052A>G) c.948-149T>C (n.948-149T>C) c.984T>C (p.Asp328=) c.276+17052A>G (n.276+17052A>G) c.*220+5492T>C (n.*220+5492T>C) c.108T>C (p.Asp36=) c.135T>C (p.Asp45=) c.990T>C (p.Asp330=) c.804T>C (p.Asp268=) c.723T>C (p.Asp241=) c.429T>C (p.Asp143=) c.810T>C (p.Asp270=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688732A>T | CA346749877 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1065T>A (p.Asp355Glu) c.948-593T>A (n.948-593T>A) c.3441+17052A>T (n.3441+17052A>T) c.948-149T>A (n.948-149T>A) c.984T>A (p.Asp328Glu) c.276+17052A>T (n.276+17052A>T) c.*220+5492T>A (n.*220+5492T>A) c.108T>A (p.Asp36Glu) c.135T>A (p.Asp45Glu) c.990T>A (p.Asp330Glu) c.804T>A (p.Asp268Glu) c.723T>A (p.Asp241Glu) c.429T>A (p.Asp143Glu) c.810T>A (p.Asp270Glu) | |
2 | g.48688733T>A | CA346749879 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1064A>T (p.Asp355Val) c.948-594A>T (n.948-594A>T) c.3441+17053T>A (n.3441+17053T>A) c.948-150A>T (n.948-150A>T) c.983A>T (p.Asp328Val) c.276+17053T>A (n.276+17053T>A) c.*220+5491A>T (n.*220+5491A>T) c.107A>T (p.Asp36Val) c.134A>T (p.Asp45Val) c.989A>T (p.Asp330Val) c.803A>T (p.Asp268Val) c.722A>T (p.Asp241Val) c.428A>T (p.Asp143Val) c.809A>T (p.Asp270Val) | |
2 | g.48688733T>C | CA346749880 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1064A>G (p.Asp355Gly) c.948-594A>G (n.948-594A>G) c.3441+17053T>C (n.3441+17053T>C) c.948-150A>G (n.948-150A>G) c.983A>G (p.Asp328Gly) c.276+17053T>C (n.276+17053T>C) c.*220+5491A>G (n.*220+5491A>G) c.107A>G (p.Asp36Gly) c.134A>G (p.Asp45Gly) c.989A>G (p.Asp330Gly) c.803A>G (p.Asp268Gly) c.722A>G (p.Asp241Gly) c.428A>G (p.Asp143Gly) c.809A>G (p.Asp270Gly) | |
2 | g.48688733T>G | CA346749883 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1064A>C (p.Asp355Ala) c.948-594A>C (n.948-594A>C) c.3441+17053T>G (n.3441+17053T>G) c.948-150A>C (n.948-150A>C) c.983A>C (p.Asp328Ala) c.276+17053T>G (n.276+17053T>G) c.*220+5491A>C (n.*220+5491A>C) c.107A>C (p.Asp36Ala) c.134A>C (p.Asp45Ala) c.989A>C (p.Asp330Ala) c.803A>C (p.Asp268Ala) c.722A>C (p.Asp241Ala) c.428A>C (p.Asp143Ala) c.809A>C (p.Asp270Ala) | |
2 | g.48688734C>A | CA346749886 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1063G>T (p.Asp355Tyr) c.948-595G>T (n.948-595G>T) c.3441+17054C>A (n.3441+17054C>A) c.948-151G>T (n.948-151G>T) c.982G>T (p.Asp328Tyr) c.276+17054C>A (n.276+17054C>A) c.*220+5490G>T (n.*220+5490G>T) c.106G>T (p.Asp36Tyr) c.133G>T (p.Asp45Tyr) c.988G>T (p.Asp330Tyr) c.802G>T (p.Asp268Tyr) c.721G>T (p.Asp241Tyr) c.427G>T (p.Asp143Tyr) c.808G>T (p.Asp270Tyr) | |
2 | g.48688734C>G | CA346749884 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1063G>C (p.Asp355His) c.948-595G>C (n.948-595G>C) c.3441+17054C>G (n.3441+17054C>G) c.948-151G>C (n.948-151G>C) c.982G>C (p.Asp328His) c.276+17054C>G (n.276+17054C>G) c.*220+5490G>C (n.*220+5490G>C) c.106G>C (p.Asp36His) c.133G>C (p.Asp45His) c.988G>C (p.Asp330His) c.802G>C (p.Asp268His) c.721G>C (p.Asp241His) c.427G>C (p.Asp143His) c.808G>C (p.Asp270His) | |
2 | g.48688734C>T | CA346749885 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1063G>A (p.Asp355Asn) c.948-595G>A (n.948-595G>A) c.3441+17054C>T (n.3441+17054C>T) c.948-151G>A (n.948-151G>A) c.982G>A (p.Asp328Asn) c.276+17054C>T (n.276+17054C>T) c.*220+5490G>A (n.*220+5490G>A) c.106G>A (p.Asp36Asn) c.133G>A (p.Asp45Asn) c.988G>A (p.Asp330Asn) c.802G>A (p.Asp268Asn) c.721G>A (p.Asp241Asn) c.427G>A (p.Asp143Asn) c.808G>A (p.Asp270Asn) | gnomAD v4 COSMIC |
2 | g.48688735T>A | CA346749887 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1062A>T (p.Glu354Asp) c.948-596A>T (n.948-596A>T) c.3441+17055T>A (n.3441+17055T>A) c.948-152A>T (n.948-152A>T) c.981A>T (p.Glu327Asp) c.276+17055T>A (n.276+17055T>A) c.*220+5489A>T (n.*220+5489A>T) c.105A>T (p.Glu35Asp) c.132A>T (p.Glu44Asp) c.987A>T (p.Glu329Asp) c.801A>T (p.Glu267Asp) c.720A>T (p.Glu240Asp) c.426A>T (p.Glu142Asp) c.807A>T (p.Glu269Asp) | |
2 | g.48688735T>C | CA426124770 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1062A>G (p.Glu354=) c.948-596A>G (n.948-596A>G) c.3441+17055T>C (n.3441+17055T>C) c.948-152A>G (n.948-152A>G) c.981A>G (p.Glu327=) c.276+17055T>C (n.276+17055T>C) c.*220+5489A>G (n.*220+5489A>G) c.105A>G (p.Glu35=) c.132A>G (p.Glu44=) c.987A>G (p.Glu329=) c.801A>G (p.Glu267=) c.720A>G (p.Glu240=) c.426A>G (p.Glu142=) c.807A>G (p.Glu269=) | |
2 | g.48688735T>G | CA346749888 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1062A>C (p.Glu354Asp) c.948-596A>C (n.948-596A>C) c.3441+17055T>G (n.3441+17055T>G) c.948-152A>C (n.948-152A>C) c.981A>C (p.Glu327Asp) c.276+17055T>G (n.276+17055T>G) c.*220+5489A>C (n.*220+5489A>C) c.105A>C (p.Glu35Asp) c.132A>C (p.Glu44Asp) c.987A>C (p.Glu329Asp) c.801A>C (p.Glu267Asp) c.720A>C (p.Glu240Asp) c.426A>C (p.Glu142Asp) c.807A>C (p.Glu269Asp) | gnomAD v4 |
2 | g.48688736T>A | CA346749890 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1061A>T (p.Glu354Val) c.948-597A>T (n.948-597A>T) c.3441+17056T>A (n.3441+17056T>A) c.948-153A>T (n.948-153A>T) c.980A>T (p.Glu327Val) c.276+17056T>A (n.276+17056T>A) c.*220+5488A>T (n.*220+5488A>T) c.104A>T (p.Glu35Val) c.131A>T (p.Glu44Val) c.986A>T (p.Glu329Val) c.800A>T (p.Glu267Val) c.719A>T (p.Glu240Val) c.425A>T (p.Glu142Val) c.806A>T (p.Glu269Val) | |
2 | g.48688736T>C | CA346749892 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1061A>G (p.Glu354Gly) c.948-597A>G (n.948-597A>G) c.3441+17056T>C (n.3441+17056T>C) c.948-153A>G (n.948-153A>G) c.980A>G (p.Glu327Gly) c.276+17056T>C (n.276+17056T>C) c.*220+5488A>G (n.*220+5488A>G) c.104A>G (p.Glu35Gly) c.131A>G (p.Glu44Gly) c.986A>G (p.Glu329Gly) c.800A>G (p.Glu267Gly) c.719A>G (p.Glu240Gly) c.425A>G (p.Glu142Gly) c.806A>G (p.Glu269Gly) | |
2 | g.48688736T>G | CA346749893 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1061A>C (p.Glu354Ala) c.948-597A>C (n.948-597A>C) c.3441+17056T>G (n.3441+17056T>G) c.948-153A>C (n.948-153A>C) c.980A>C (p.Glu327Ala) c.276+17056T>G (n.276+17056T>G) c.*220+5488A>C (n.*220+5488A>C) c.104A>C (p.Glu35Ala) c.131A>C (p.Glu44Ala) c.986A>C (p.Glu329Ala) c.800A>C (p.Glu267Ala) c.719A>C (p.Glu240Ala) c.425A>C (p.Glu142Ala) c.806A>C (p.Glu269Ala) | |
2 | g.48688737C>A | CA346749898 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1060G>T (p.Glu354Ter) c.948-598G>T (n.948-598G>T) c.3441+17057C>A (n.3441+17057C>A) c.948-154G>T (n.948-154G>T) c.979G>T (p.Glu327Ter) c.276+17057C>A (n.276+17057C>A) c.*220+5487G>T (n.*220+5487G>T) c.103G>T (p.Glu35Ter) c.130G>T (p.Glu44Ter) c.985G>T (p.Glu329Ter) c.799G>T (p.Glu267Ter) c.718G>T (p.Glu240Ter) c.424G>T (p.Glu142Ter) c.805G>T (p.Glu269Ter) | |
2 | g.48688737C= | CA1248601250 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1060G= (p.Glu354=) c.948-598G= (n.948-598G=) c.3441+17057C= (n.3441+17057C=) c.948-154G= (n.948-154G=) c.979G= (p.Glu327=) c.276+17057C= (n.276+17057C=) c.*220+5487G= (n.*220+5487G=) c.103G= (p.Glu35=) c.130G= (p.Glu44=) c.985G= (p.Glu329=) c.799G= (p.Glu267=) c.718G= (p.Glu240=) c.424G= (p.Glu142=) c.805G= (p.Glu269=) | |
2 | g.48688737C>G | CA346749899 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1060G>C (p.Glu354Gln) c.948-598G>C (n.948-598G>C) c.3441+17057C>G (n.3441+17057C>G) c.948-154G>C (n.948-154G>C) c.979G>C (p.Glu327Gln) c.276+17057C>G (n.276+17057C>G) c.*220+5487G>C (n.*220+5487G>C) c.103G>C (p.Glu35Gln) c.130G>C (p.Glu44Gln) c.985G>C (p.Glu329Gln) c.799G>C (p.Glu267Gln) c.718G>C (p.Glu240Gln) c.424G>C (p.Glu142Gln) c.805G>C (p.Glu269Gln) | |
2 | g.48688737C>T | CA123927 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1060G>A (p.Glu354Lys) c.948-598G>A (n.948-598G>A) c.3441+17057C>T (n.3441+17057C>T) c.948-154G>A (n.948-154G>A) c.979G>A (p.Glu327Lys) c.276+17057C>T (n.276+17057C>T) c.*220+5487G>A (n.*220+5487G>A) c.103G>A (p.Glu35Lys) c.130G>A (p.Glu44Lys) c.985G>A (p.Glu329Lys) c.799G>A (p.Glu267Lys) c.718G>A (p.Glu240Lys) c.424G>A (p.Glu142Lys) c.805G>A (p.Glu269Lys) | ClinVar dbSNP gnomAD v4 COSMIC |
2 | g.48688738A>C | CA346749902 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1059T>G (p.Cys353Trp) c.948-599T>G (n.948-599T>G) c.3441+17058A>C (n.3441+17058A>C) c.948-155T>G (n.948-155T>G) c.978T>G (p.Cys326Trp) c.276+17058A>C (n.276+17058A>C) c.*220+5486T>G (n.*220+5486T>G) c.102T>G (p.Cys34Trp) c.129T>G (p.Cys43Trp) c.984T>G (p.Cys328Trp) c.798T>G (p.Cys266Trp) c.717T>G (p.Cys239Trp) c.423T>G (p.Cys141Trp) c.804T>G (p.Cys268Trp) | |
2 | g.48688738A>G | CA426124774 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1059T>C (p.Cys353=) c.948-599T>C (n.948-599T>C) c.3441+17058A>G (n.3441+17058A>G) c.948-155T>C (n.948-155T>C) c.978T>C (p.Cys326=) c.276+17058A>G (n.276+17058A>G) c.*220+5486T>C (n.*220+5486T>C) c.102T>C (p.Cys34=) c.129T>C (p.Cys43=) c.984T>C (p.Cys328=) c.798T>C (p.Cys266=) c.717T>C (p.Cys239=) c.423T>C (p.Cys141=) c.804T>C (p.Cys268=) | gnomAD v4 |
2 | g.48688738A>T | CA346749900 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1059T>A (p.Cys353Ter) c.948-599T>A (n.948-599T>A) c.3441+17058A>T (n.3441+17058A>T) c.948-155T>A (n.948-155T>A) c.978T>A (p.Cys326Ter) c.276+17058A>T (n.276+17058A>T) c.*220+5486T>A (n.*220+5486T>A) c.102T>A (p.Cys34Ter) c.129T>A (p.Cys43Ter) c.984T>A (p.Cys328Ter) c.798T>A (p.Cys266Ter) c.717T>A (p.Cys239Ter) c.423T>A (p.Cys141Ter) c.804T>A (p.Cys268Ter) | |
2 | g.48688739C>A | CA346749904 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1058G>T (p.Cys353Phe) c.948-600G>T (n.948-600G>T) c.3441+17059C>A (n.3441+17059C>A) c.948-156G>T (n.948-156G>T) c.977G>T (p.Cys326Phe) c.276+17059C>A (n.276+17059C>A) c.*220+5485G>T (n.*220+5485G>T) c.101G>T (p.Cys34Phe) c.128G>T (p.Cys43Phe) c.983G>T (p.Cys328Phe) c.797G>T (p.Cys266Phe) c.716G>T (p.Cys239Phe) c.422G>T (p.Cys141Phe) c.803G>T (p.Cys268Phe) | |
2 | g.48688739C>G | CA346749906 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1058G>C (p.Cys353Ser) c.948-600G>C (n.948-600G>C) c.3441+17059C>G (n.3441+17059C>G) c.948-156G>C (n.948-156G>C) c.977G>C (p.Cys326Ser) c.276+17059C>G (n.276+17059C>G) c.*220+5485G>C (n.*220+5485G>C) c.101G>C (p.Cys34Ser) c.128G>C (p.Cys43Ser) c.983G>C (p.Cys328Ser) c.797G>C (p.Cys266Ser) c.716G>C (p.Cys239Ser) c.422G>C (p.Cys141Ser) c.803G>C (p.Cys268Ser) | gnomAD v4 |
2 | g.48688739C>T | CA346749909 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1058G>A (p.Cys353Tyr) c.948-600G>A (n.948-600G>A) c.3441+17059C>T (n.3441+17059C>T) c.948-156G>A (n.948-156G>A) c.977G>A (p.Cys326Tyr) c.276+17059C>T (n.276+17059C>T) c.*220+5485G>A (n.*220+5485G>A) c.101G>A (p.Cys34Tyr) c.128G>A (p.Cys43Tyr) c.983G>A (p.Cys328Tyr) c.797G>A (p.Cys266Tyr) c.716G>A (p.Cys239Tyr) c.422G>A (p.Cys141Tyr) c.803G>A (p.Cys268Tyr) | |
2 | g.48688740A= | CA1248601251 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1057T= (p.Cys353=) c.948-601T= (n.948-601T=) c.3441+17060A= (n.3441+17060A=) c.948-157T= (n.948-157T=) c.976T= (p.Cys326=) c.276+17060A= (n.276+17060A=) c.*220+5484T= (n.*220+5484T=) c.100T= (p.Cys34=) c.127T= (p.Cys43=) c.982T= (p.Cys328=) c.796T= (p.Cys266=) c.715T= (p.Cys239=) c.421T= (p.Cys141=) c.802T= (p.Cys268=) | |
2 | g.48688740A>C | CA346749910 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1057T>G (p.Cys353Gly) c.948-601T>G (n.948-601T>G) c.3441+17060A>C (n.3441+17060A>C) c.948-157T>G (n.948-157T>G) c.976T>G (p.Cys326Gly) c.276+17060A>C (n.276+17060A>C) c.*220+5484T>G (n.*220+5484T>G) c.100T>G (p.Cys34Gly) c.127T>G (p.Cys43Gly) c.982T>G (p.Cys328Gly) c.796T>G (p.Cys266Gly) c.715T>G (p.Cys239Gly) c.421T>G (p.Cys141Gly) c.802T>G (p.Cys268Gly) | |
2 | g.48688740A>G | CA346749914 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1057T>C (p.Cys353Arg) c.948-601T>C (n.948-601T>C) c.3441+17060A>G (n.3441+17060A>G) c.948-157T>C (n.948-157T>C) c.976T>C (p.Cys326Arg) c.276+17060A>G (n.276+17060A>G) c.*220+5484T>C (n.*220+5484T>C) c.100T>C (p.Cys34Arg) c.127T>C (p.Cys43Arg) c.982T>C (p.Cys328Arg) c.796T>C (p.Cys266Arg) c.715T>C (p.Cys239Arg) c.421T>C (p.Cys141Arg) c.802T>C (p.Cys268Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.48688740A>T | CA346749917 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1057T>A (p.Cys353Ser) c.948-601T>A (n.948-601T>A) c.3441+17060A>T (n.3441+17060A>T) c.948-157T>A (n.948-157T>A) c.976T>A (p.Cys326Ser) c.276+17060A>T (n.276+17060A>T) c.*220+5484T>A (n.*220+5484T>A) c.100T>A (p.Cys34Ser) c.127T>A (p.Cys43Ser) c.982T>A (p.Cys328Ser) c.796T>A (p.Cys266Ser) c.715T>A (p.Cys239Ser) c.421T>A (p.Cys141Ser) c.802T>A (p.Cys268Ser) | |
2 | g.48688741G>A | CA426124780 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1056C>T (p.Pro352=) c.948-602C>T (n.948-602C>T) c.3441+17061G>A (n.3441+17061G>A) c.948-158C>T (n.948-158C>T) c.975C>T (p.Pro325=) c.276+17061G>A (n.276+17061G>A) c.*220+5483C>T (n.*220+5483C>T) c.99C>T (p.Pro33=) c.126C>T (p.Pro42=) c.981C>T (p.Pro327=) c.795C>T (p.Pro265=) c.714C>T (p.Pro238=) c.420C>T (p.Pro140=) c.801C>T (p.Pro267=) | |
2 | g.48688741G>C | CA426124779 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1056C>G (p.Pro352=) c.948-602C>G (n.948-602C>G) c.3441+17061G>C (n.3441+17061G>C) c.948-158C>G (n.948-158C>G) c.975C>G (p.Pro325=) c.276+17061G>C (n.276+17061G>C) c.*220+5483C>G (n.*220+5483C>G) c.99C>G (p.Pro33=) c.126C>G (p.Pro42=) c.981C>G (p.Pro327=) c.795C>G (p.Pro265=) c.714C>G (p.Pro238=) c.420C>G (p.Pro140=) c.801C>G (p.Pro267=) | |
2 | g.48688741G>T | CA426124778 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1056C>A (p.Pro352=) c.948-602C>A (n.948-602C>A) c.3441+17061G>T (n.3441+17061G>T) c.948-158C>A (n.948-158C>A) c.975C>A (p.Pro325=) c.276+17061G>T (n.276+17061G>T) c.*220+5483C>A (n.*220+5483C>A) c.99C>A (p.Pro33=) c.126C>A (p.Pro42=) c.981C>A (p.Pro327=) c.795C>A (p.Pro265=) c.714C>A (p.Pro238=) c.420C>A (p.Pro140=) c.801C>A (p.Pro267=) | |
2 | g.48688742G>A | CA346749919 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1055C>T (p.Pro352Leu) c.948-603C>T (n.948-603C>T) c.3441+17062G>A (n.3441+17062G>A) c.948-159C>T (n.948-159C>T) c.974C>T (p.Pro325Leu) c.276+17062G>A (n.276+17062G>A) c.*220+5482C>T (n.*220+5482C>T) c.98C>T (p.Pro33Leu) c.125C>T (p.Pro42Leu) c.980C>T (p.Pro327Leu) c.794C>T (p.Pro265Leu) c.713C>T (p.Pro238Leu) c.419C>T (p.Pro140Leu) c.800C>T (p.Pro267Leu) | |
2 | g.48688742G>C | CA346749926 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1055C>G (p.Pro352Arg) c.948-603C>G (n.948-603C>G) c.3441+17062G>C (n.3441+17062G>C) c.948-159C>G (n.948-159C>G) c.974C>G (p.Pro325Arg) c.276+17062G>C (n.276+17062G>C) c.*220+5482C>G (n.*220+5482C>G) c.98C>G (p.Pro33Arg) c.125C>G (p.Pro42Arg) c.980C>G (p.Pro327Arg) c.794C>G (p.Pro265Arg) c.713C>G (p.Pro238Arg) c.419C>G (p.Pro140Arg) c.800C>G (p.Pro267Arg) | |
2 | g.48688742G>T | CA346749923 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1055C>A (p.Pro352His) c.948-603C>A (n.948-603C>A) c.3441+17062G>T (n.3441+17062G>T) c.948-159C>A (n.948-159C>A) c.974C>A (p.Pro325His) c.276+17062G>T (n.276+17062G>T) c.*220+5482C>A (n.*220+5482C>A) c.98C>A (p.Pro33His) c.125C>A (p.Pro42His) c.980C>A (p.Pro327His) c.794C>A (p.Pro265His) c.713C>A (p.Pro238His) c.419C>A (p.Pro140His) c.800C>A (p.Pro267His) | |
2 | g.48688743G>A | CA46753340 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1054C>T (p.Pro352Ser) c.948-604C>T (n.948-604C>T) c.3441+17063G>A (n.3441+17063G>A) c.948-160C>T (n.948-160C>T) c.973C>T (p.Pro325Ser) c.276+17063G>A (n.276+17063G>A) c.*220+5481C>T (n.*220+5481C>T) c.97C>T (p.Pro33Ser) c.124C>T (p.Pro42Ser) c.979C>T (p.Pro327Ser) c.793C>T (p.Pro265Ser) c.712C>T (p.Pro238Ser) c.418C>T (p.Pro140Ser) c.799C>T (p.Pro267Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688743G>C | CA346749927 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1054C>G (p.Pro352Ala) c.948-604C>G (n.948-604C>G) c.3441+17063G>C (n.3441+17063G>C) c.948-160C>G (n.948-160C>G) c.973C>G (p.Pro325Ala) c.276+17063G>C (n.276+17063G>C) c.*220+5481C>G (n.*220+5481C>G) c.97C>G (p.Pro33Ala) c.124C>G (p.Pro42Ala) c.979C>G (p.Pro327Ala) c.793C>G (p.Pro265Ala) c.712C>G (p.Pro238Ala) c.418C>G (p.Pro140Ala) c.799C>G (p.Pro267Ala) | |
2 | g.48688743G= | CA1248601252 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1054C= (p.Pro352=) c.948-604C= (n.948-604C=) c.3441+17063G= (n.3441+17063G=) c.948-160C= (n.948-160C=) c.973C= (p.Pro325=) c.276+17063G= (n.276+17063G=) c.*220+5481C= (n.*220+5481C=) c.97C= (p.Pro33=) c.124C= (p.Pro42=) c.979C= (p.Pro327=) c.793C= (p.Pro265=) c.712C= (p.Pro238=) c.418C= (p.Pro140=) c.799C= (p.Pro267=) | |
2 | g.48688743G>T | CA346749931 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1054C>A (p.Pro352Thr) c.948-604C>A (n.948-604C>A) c.3441+17063G>T (n.3441+17063G>T) c.948-160C>A (n.948-160C>A) c.973C>A (p.Pro325Thr) c.276+17063G>T (n.276+17063G>T) c.*220+5481C>A (n.*220+5481C>A) c.97C>A (p.Pro33Thr) c.124C>A (p.Pro42Thr) c.979C>A (p.Pro327Thr) c.793C>A (p.Pro265Thr) c.712C>A (p.Pro238Thr) c.418C>A (p.Pro140Thr) c.799C>A (p.Pro267Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688744A= | CA1248601253 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1053T= (p.Asn351=) c.948-605T= (n.948-605T=) c.3441+17064A= (n.3441+17064A=) c.948-161T= (n.948-161T=) c.972T= (p.Asn324=) c.276+17064A= (n.276+17064A=) c.*220+5480T= (n.*220+5480T=) c.96T= (p.Asn32=) c.123T= (p.Asn41=) c.978T= (p.Asn326=) c.792T= (p.Asn264=) c.711T= (p.Asn237=) c.417T= (p.Asn139=) c.798T= (p.Asn266=) | |
2 | g.48688744A>C | CA346749933 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1053T>G (p.Asn351Lys) c.948-605T>G (n.948-605T>G) c.3441+17064A>C (n.3441+17064A>C) c.948-161T>G (n.948-161T>G) c.972T>G (p.Asn324Lys) c.276+17064A>C (n.276+17064A>C) c.*220+5480T>G (n.*220+5480T>G) c.96T>G (p.Asn32Lys) c.123T>G (p.Asn41Lys) c.978T>G (p.Asn326Lys) c.792T>G (p.Asn264Lys) c.711T>G (p.Asn237Lys) c.417T>G (p.Asn139Lys) c.798T>G (p.Asn266Lys) | |
2 | g.48688744A>G | CA426124782 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1053T>C (p.Asn351=) c.948-605T>C (n.948-605T>C) c.3441+17064A>G (n.3441+17064A>G) c.948-161T>C (n.948-161T>C) c.972T>C (p.Asn324=) c.276+17064A>G (n.276+17064A>G) c.*220+5480T>C (n.*220+5480T>C) c.96T>C (p.Asn32=) c.123T>C (p.Asn41=) c.978T>C (p.Asn326=) c.792T>C (p.Asn264=) c.711T>C (p.Asn237=) c.417T>C (p.Asn139=) c.798T>C (p.Asn266=) | |
2 | g.48688744A>T | CA1653087 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1053T>A (p.Asn351Lys) c.948-605T>A (n.948-605T>A) c.3441+17064A>T (n.3441+17064A>T) c.948-161T>A (n.948-161T>A) c.972T>A (p.Asn324Lys) c.276+17064A>T (n.276+17064A>T) c.*220+5480T>A (n.*220+5480T>A) c.96T>A (p.Asn32Lys) c.123T>A (p.Asn41Lys) c.978T>A (p.Asn326Lys) c.792T>A (p.Asn264Lys) c.711T>A (p.Asn237Lys) c.417T>A (p.Asn139Lys) c.798T>A (p.Asn266Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48688745T>A | CA346749938 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1052A>T (p.Asn351Ile) c.948-606A>T (n.948-606A>T) c.3441+17065T>A (n.3441+17065T>A) c.948-162A>T (n.948-162A>T) c.971A>T (p.Asn324Ile) c.276+17065T>A (n.276+17065T>A) c.*220+5479A>T (n.*220+5479A>T) c.95A>T (p.Asn32Ile) c.122A>T (p.Asn41Ile) c.977A>T (p.Asn326Ile) c.791A>T (p.Asn264Ile) c.710A>T (p.Asn237Ile) c.416A>T (p.Asn139Ile) c.797A>T (p.Asn266Ile) | |
2 | g.48688745T>C | CA346749939 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1052A>G (p.Asn351Ser) c.948-606A>G (n.948-606A>G) c.3441+17065T>C (n.3441+17065T>C) c.948-162A>G (n.948-162A>G) c.971A>G (p.Asn324Ser) c.276+17065T>C (n.276+17065T>C) c.*220+5479A>G (n.*220+5479A>G) c.95A>G (p.Asn32Ser) c.122A>G (p.Asn41Ser) c.977A>G (p.Asn326Ser) c.791A>G (p.Asn264Ser) c.710A>G (p.Asn237Ser) c.416A>G (p.Asn139Ser) c.797A>G (p.Asn266Ser) | |
2 | g.48688745T>G | CA1653088 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1052A>C (p.Asn351Thr) c.948-606A>C (n.948-606A>C) c.3441+17065T>G (n.3441+17065T>G) c.948-162A>C (n.948-162A>C) c.971A>C (p.Asn324Thr) c.276+17065T>G (n.276+17065T>G) c.*220+5479A>C (n.*220+5479A>C) c.95A>C (p.Asn32Thr) c.122A>C (p.Asn41Thr) c.977A>C (p.Asn326Thr) c.791A>C (p.Asn264Thr) c.710A>C (p.Asn237Thr) c.416A>C (p.Asn139Thr) c.797A>C (p.Asn266Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48688745T= | CA1248601254 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1052A= (p.Asn351=) c.948-606A= (n.948-606A=) c.3441+17065T= (n.3441+17065T=) c.948-162A= (n.948-162A=) c.971A= (p.Asn324=) c.276+17065T= (n.276+17065T=) c.*220+5479A= (n.*220+5479A=) c.95A= (p.Asn32=) c.122A= (p.Asn41=) c.977A= (p.Asn326=) c.791A= (p.Asn264=) c.710A= (p.Asn237=) c.416A= (p.Asn139=) c.797A= (p.Asn266=) | |
2 | g.48688746T>A | CA346749943 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1051A>T (p.Asn351Tyr) c.948-607A>T (n.948-607A>T) c.3441+17066T>A (n.3441+17066T>A) c.948-163A>T (n.948-163A>T) c.970A>T (p.Asn324Tyr) c.276+17066T>A (n.276+17066T>A) c.*220+5478A>T (n.*220+5478A>T) c.94A>T (p.Asn32Tyr) c.121A>T (p.Asn41Tyr) c.976A>T (p.Asn326Tyr) c.790A>T (p.Asn264Tyr) c.709A>T (p.Asn237Tyr) c.415A>T (p.Asn139Tyr) c.796A>T (p.Asn266Tyr) | |
2 | g.48688746T>C | CA346749944 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1051A>G (p.Asn351Asp) c.948-607A>G (n.948-607A>G) c.3441+17066T>C (n.3441+17066T>C) c.948-163A>G (n.948-163A>G) c.970A>G (p.Asn324Asp) c.276+17066T>C (n.276+17066T>C) c.*220+5478A>G (n.*220+5478A>G) c.94A>G (p.Asn32Asp) c.121A>G (p.Asn41Asp) c.976A>G (p.Asn326Asp) c.790A>G (p.Asn264Asp) c.709A>G (p.Asn237Asp) c.415A>G (p.Asn139Asp) c.796A>G (p.Asn266Asp) | |
2 | g.48688746T>G | CA346749945 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1051A>C (p.Asn351His) c.948-607A>C (n.948-607A>C) c.3441+17066T>G (n.3441+17066T>G) c.948-163A>C (n.948-163A>C) c.970A>C (p.Asn324His) c.276+17066T>G (n.276+17066T>G) c.*220+5478A>C (n.*220+5478A>C) c.94A>C (p.Asn32His) c.121A>C (p.Asn41His) c.976A>C (p.Asn326His) c.790A>C (p.Asn264His) c.709A>C (p.Asn237His) c.415A>C (p.Asn139His) c.796A>C (p.Asn266His) | |
2 | g.48688747A>C | CA346749948 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1050T>G (p.Phe350Leu) c.948-608T>G (n.948-608T>G) c.3441+17067A>C (n.3441+17067A>C) c.948-164T>G (n.948-164T>G) c.969T>G (p.Phe323Leu) c.276+17067A>C (n.276+17067A>C) c.*220+5477T>G (n.*220+5477T>G) c.93T>G (p.Phe31Leu) c.120T>G (p.Phe40Leu) c.975T>G (p.Phe325Leu) c.789T>G (p.Phe263Leu) c.708T>G (p.Phe236Leu) c.414T>G (p.Phe138Leu) c.795T>G (p.Phe265Leu) | |
2 | g.48688747A>G | CA426124783 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1050T>C (p.Phe350=) c.948-608T>C (n.948-608T>C) c.3441+17067A>G (n.3441+17067A>G) c.948-164T>C (n.948-164T>C) c.969T>C (p.Phe323=) c.276+17067A>G (n.276+17067A>G) c.*220+5477T>C (n.*220+5477T>C) c.93T>C (p.Phe31=) c.120T>C (p.Phe40=) c.975T>C (p.Phe325=) c.789T>C (p.Phe263=) c.708T>C (p.Phe236=) c.414T>C (p.Phe138=) c.795T>C (p.Phe265=) | |
2 | g.48688747A>T | CA346749946 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1050T>A (p.Phe350Leu) c.948-608T>A (n.948-608T>A) c.3441+17067A>T (n.3441+17067A>T) c.948-164T>A (n.948-164T>A) c.969T>A (p.Phe323Leu) c.276+17067A>T (n.276+17067A>T) c.*220+5477T>A (n.*220+5477T>A) c.93T>A (p.Phe31Leu) c.120T>A (p.Phe40Leu) c.975T>A (p.Phe325Leu) c.789T>A (p.Phe263Leu) c.708T>A (p.Phe236Leu) c.414T>A (p.Phe138Leu) c.795T>A (p.Phe265Leu) | |
2 | g.48688750del | CA2658992089 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1050del (p.Phe350LeufsTer16) c.948-608del (n.948-608del) c.3441+17070del (n.3441+17070del) c.948-164del (n.948-164del) c.969del (p.Phe323LeufsTer16) c.276+17070del (n.276+17070del) c.*220+5477del (n.*220+5477del) c.93del (p.Phe31LeufsTer16) c.120del (p.Phe40LeufsTer16) c.975del (p.Phe325LeufsTer16) c.789del (p.Phe263LeufsTer16) c.708del (p.Phe236LeufsTer16) c.414del (p.Phe138LeufsTer16) c.795del (p.Phe265LeufsTer16) | gnomAD v4 |
2 | g.48688748A>C | CA346749952 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1049T>G (p.Phe350Cys) c.948-609T>G (n.948-609T>G) c.3441+17068A>C (n.3441+17068A>C) c.948-165T>G (n.948-165T>G) c.968T>G (p.Phe323Cys) c.276+17068A>C (n.276+17068A>C) c.*220+5476T>G (n.*220+5476T>G) c.92T>G (p.Phe31Cys) c.119T>G (p.Phe40Cys) c.974T>G (p.Phe325Cys) c.788T>G (p.Phe263Cys) c.707T>G (p.Phe236Cys) c.413T>G (p.Phe138Cys) c.794T>G (p.Phe265Cys) | |
2 | g.48688748A>G | CA346749963 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1049T>C (p.Phe350Ser) c.948-609T>C (n.948-609T>C) c.3441+17068A>G (n.3441+17068A>G) c.948-165T>C (n.948-165T>C) c.968T>C (p.Phe323Ser) c.276+17068A>G (n.276+17068A>G) c.*220+5476T>C (n.*220+5476T>C) c.92T>C (p.Phe31Ser) c.119T>C (p.Phe40Ser) c.974T>C (p.Phe325Ser) c.788T>C (p.Phe263Ser) c.707T>C (p.Phe236Ser) c.413T>C (p.Phe138Ser) c.794T>C (p.Phe265Ser) | |
2 | g.48688748A>T | CA346749970 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1049T>A (p.Phe350Tyr) c.948-609T>A (n.948-609T>A) c.3441+17068A>T (n.3441+17068A>T) c.948-165T>A (n.948-165T>A) c.968T>A (p.Phe323Tyr) c.276+17068A>T (n.276+17068A>T) c.*220+5476T>A (n.*220+5476T>A) c.92T>A (p.Phe31Tyr) c.119T>A (p.Phe40Tyr) c.974T>A (p.Phe325Tyr) c.788T>A (p.Phe263Tyr) c.707T>A (p.Phe236Tyr) c.413T>A (p.Phe138Tyr) c.794T>A (p.Phe265Tyr) | |
2 | g.48688749A>C | CA346749972 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1048T>G (p.Phe350Val) c.948-610T>G (n.948-610T>G) c.3441+17069A>C (n.3441+17069A>C) c.948-166T>G (n.948-166T>G) c.967T>G (p.Phe323Val) c.276+17069A>C (n.276+17069A>C) c.*220+5475T>G (n.*220+5475T>G) c.91T>G (p.Phe31Val) c.118T>G (p.Phe40Val) c.973T>G (p.Phe325Val) c.787T>G (p.Phe263Val) c.706T>G (p.Phe236Val) c.412T>G (p.Phe138Val) c.793T>G (p.Phe265Val) | |
2 | g.48688749A>G | CA346749975 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1048T>C (p.Phe350Leu) c.948-610T>C (n.948-610T>C) c.3441+17069A>G (n.3441+17069A>G) c.948-166T>C (n.948-166T>C) c.967T>C (p.Phe323Leu) c.276+17069A>G (n.276+17069A>G) c.*220+5475T>C (n.*220+5475T>C) c.91T>C (p.Phe31Leu) c.118T>C (p.Phe40Leu) c.973T>C (p.Phe325Leu) c.787T>C (p.Phe263Leu) c.706T>C (p.Phe236Leu) c.412T>C (p.Phe138Leu) c.793T>C (p.Phe265Leu) | |
2 | g.48688749A>T | CA346749981 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1048T>A (p.Phe350Ile) c.948-610T>A (n.948-610T>A) c.3441+17069A>T (n.3441+17069A>T) c.948-166T>A (n.948-166T>A) c.967T>A (p.Phe323Ile) c.276+17069A>T (n.276+17069A>T) c.*220+5475T>A (n.*220+5475T>A) c.91T>A (p.Phe31Ile) c.118T>A (p.Phe40Ile) c.973T>A (p.Phe325Ile) c.787T>A (p.Phe263Ile) c.706T>A (p.Phe236Ile) c.412T>A (p.Phe138Ile) c.793T>A (p.Phe265Ile) | |
2 | g.48688750A= | CA1248601255 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1047T= (p.Ala349=) c.948-611T= (n.948-611T=) c.3441+17070A= (n.3441+17070A=) c.948-167T= (n.948-167T=) c.966T= (p.Ala322=) c.276+17070A= (n.276+17070A=) c.*220+5474T= (n.*220+5474T=) c.90T= (p.Ala30=) c.117T= (p.Ala39=) c.972T= (p.Ala324=) c.786T= (p.Ala262=) c.705T= (p.Ala235=) c.411T= (p.Ala137=) c.792T= (p.Ala264=) | |
2 | g.48688750A>C | CA426124784 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1047T>G (p.Ala349=) c.948-611T>G (n.948-611T>G) c.3441+17070A>C (n.3441+17070A>C) c.948-167T>G (n.948-167T>G) c.966T>G (p.Ala322=) c.276+17070A>C (n.276+17070A>C) c.*220+5474T>G (n.*220+5474T>G) c.90T>G (p.Ala30=) c.117T>G (p.Ala39=) c.972T>G (p.Ala324=) c.786T>G (p.Ala262=) c.705T>G (p.Ala235=) c.411T>G (p.Ala137=) c.792T>G (p.Ala264=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688750A>G | CA426124785 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1047T>C (p.Ala349=) c.948-611T>C (n.948-611T>C) c.3441+17070A>G (n.3441+17070A>G) c.948-167T>C (n.948-167T>C) c.966T>C (p.Ala322=) c.276+17070A>G (n.276+17070A>G) c.*220+5474T>C (n.*220+5474T>C) c.90T>C (p.Ala30=) c.117T>C (p.Ala39=) c.972T>C (p.Ala324=) c.786T>C (p.Ala262=) c.705T>C (p.Ala235=) c.411T>C (p.Ala137=) c.792T>C (p.Ala264=) | |
2 | g.48688750A>T | CA426124786 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1047T>A (p.Ala349=) c.948-611T>A (n.948-611T>A) c.3441+17070A>T (n.3441+17070A>T) c.948-167T>A (n.948-167T>A) c.966T>A (p.Ala322=) c.276+17070A>T (n.276+17070A>T) c.*220+5474T>A (n.*220+5474T>A) c.90T>A (p.Ala30=) c.117T>A (p.Ala39=) c.972T>A (p.Ala324=) c.786T>A (p.Ala262=) c.705T>A (p.Ala235=) c.411T>A (p.Ala137=) c.792T>A (p.Ala264=) | |
2 | g.48688751G>A | CA1653089 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1046C>T (p.Ala349Val) c.948-612C>T (n.948-612C>T) c.3441+17071G>A (n.3441+17071G>A) c.948-168C>T (n.948-168C>T) c.965C>T (p.Ala322Val) c.276+17071G>A (n.276+17071G>A) c.*220+5473C>T (n.*220+5473C>T) c.89C>T (p.Ala30Val) c.116C>T (p.Ala39Val) c.971C>T (p.Ala324Val) c.785C>T (p.Ala262Val) c.704C>T (p.Ala235Val) c.410C>T (p.Ala137Val) c.791C>T (p.Ala264Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688751G>C | CA346749991 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1046C>G (p.Ala349Gly) c.948-612C>G (n.948-612C>G) c.3441+17071G>C (n.3441+17071G>C) c.948-168C>G (n.948-168C>G) c.965C>G (p.Ala322Gly) c.276+17071G>C (n.276+17071G>C) c.*220+5473C>G (n.*220+5473C>G) c.89C>G (p.Ala30Gly) c.116C>G (p.Ala39Gly) c.971C>G (p.Ala324Gly) c.785C>G (p.Ala262Gly) c.704C>G (p.Ala235Gly) c.410C>G (p.Ala137Gly) c.791C>G (p.Ala264Gly) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48688751G= | CA1248601256 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1046C= (p.Ala349=) c.948-612C= (n.948-612C=) c.3441+17071G= (n.3441+17071G=) c.948-168C= (n.948-168C=) c.965C= (p.Ala322=) c.276+17071G= (n.276+17071G=) c.*220+5473C= (n.*220+5473C=) c.89C= (p.Ala30=) c.116C= (p.Ala39=) c.971C= (p.Ala324=) c.785C= (p.Ala262=) c.704C= (p.Ala235=) c.410C= (p.Ala137=) c.791C= (p.Ala264=) | |
2 | g.48688751G>T | CA346749987 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1046C>A (p.Ala349Asp) c.948-612C>A (n.948-612C>A) c.3441+17071G>T (n.3441+17071G>T) c.948-168C>A (n.948-168C>A) c.965C>A (p.Ala322Asp) c.276+17071G>T (n.276+17071G>T) c.*220+5473C>A (n.*220+5473C>A) c.89C>A (p.Ala30Asp) c.116C>A (p.Ala39Asp) c.971C>A (p.Ala324Asp) c.785C>A (p.Ala262Asp) c.704C>A (p.Ala235Asp) c.410C>A (p.Ala137Asp) c.791C>A (p.Ala264Asp) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48688752C>A | CA346749995 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1045G>T (p.Ala349Ser) c.948-613G>T (n.948-613G>T) c.3441+17072C>A (n.3441+17072C>A) c.948-169G>T (n.948-169G>T) c.964G>T (p.Ala322Ser) c.276+17072C>A (n.276+17072C>A) c.*220+5472G>T (n.*220+5472G>T) c.88G>T (p.Ala30Ser) c.115G>T (p.Ala39Ser) c.970G>T (p.Ala324Ser) c.784G>T (p.Ala262Ser) c.703G>T (p.Ala235Ser) c.409G>T (p.Ala137Ser) c.790G>T (p.Ala264Ser) | |
2 | g.48688752C= | CA1248601257 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1045G= (p.Ala349=) c.948-613G= (n.948-613G=) c.3441+17072C= (n.3441+17072C=) c.948-169G= (n.948-169G=) c.964G= (p.Ala322=) c.276+17072C= (n.276+17072C=) c.*220+5472G= (n.*220+5472G=) c.88G= (p.Ala30=) c.115G= (p.Ala39=) c.970G= (p.Ala324=) c.784G= (p.Ala262=) c.703G= (p.Ala235=) c.409G= (p.Ala137=) c.790G= (p.Ala264=) | |
2 | g.48688752C>G | CA346749996 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1045G>C (p.Ala349Pro) c.948-613G>C (n.948-613G>C) c.3441+17072C>G (n.3441+17072C>G) c.948-169G>C (n.948-169G>C) c.964G>C (p.Ala322Pro) c.276+17072C>G (n.276+17072C>G) c.*220+5472G>C (n.*220+5472G>C) c.88G>C (p.Ala30Pro) c.115G>C (p.Ala39Pro) c.970G>C (p.Ala324Pro) c.784G>C (p.Ala262Pro) c.703G>C (p.Ala235Pro) c.409G>C (p.Ala137Pro) c.790G>C (p.Ala264Pro) | dbSNP |
2 | g.48688752C>T | CA46753361 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1045G>A (p.Ala349Thr) c.948-613G>A (n.948-613G>A) c.3441+17072C>T (n.3441+17072C>T) c.948-169G>A (n.948-169G>A) c.964G>A (p.Ala322Thr) c.276+17072C>T (n.276+17072C>T) c.*220+5472G>A (n.*220+5472G>A) c.88G>A (p.Ala30Thr) c.115G>A (p.Ala39Thr) c.970G>A (p.Ala324Thr) c.784G>A (p.Ala262Thr) c.703G>A (p.Ala235Thr) c.409G>A (p.Ala137Thr) c.790G>A (p.Ala264Thr) | dbSNP gnomAD v4 |
2 | g.48688753A= | CA1248601258 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1044T= (p.Asp348=) c.948-614T= (n.948-614T=) c.3441+17073A= (n.3441+17073A=) c.948-170T= (n.948-170T=) c.963T= (p.Asp321=) c.276+17073A= (n.276+17073A=) c.*220+5471T= (n.*220+5471T=) c.87T= (p.Asp29=) c.114T= (p.Asp38=) c.969T= (p.Asp323=) c.783T= (p.Asp261=) c.702T= (p.Asp234=) c.408T= (p.Asp136=) c.789T= (p.Asp263=) | |
2 | g.48688753A>C | CA346749999 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1044T>G (p.Asp348Glu) c.948-614T>G (n.948-614T>G) c.3441+17073A>C (n.3441+17073A>C) c.948-170T>G (n.948-170T>G) c.963T>G (p.Asp321Glu) c.276+17073A>C (n.276+17073A>C) c.*220+5471T>G (n.*220+5471T>G) c.87T>G (p.Asp29Glu) c.114T>G (p.Asp38Glu) c.969T>G (p.Asp323Glu) c.783T>G (p.Asp261Glu) c.702T>G (p.Asp234Glu) c.408T>G (p.Asp136Glu) c.789T>G (p.Asp263Glu) | |
2 | g.48688753A>G | CA1653090 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1044T>C (p.Asp348=) c.948-614T>C (n.948-614T>C) c.3441+17073A>G (n.3441+17073A>G) c.948-170T>C (n.948-170T>C) c.963T>C (p.Asp321=) c.276+17073A>G (n.276+17073A>G) c.*220+5471T>C (n.*220+5471T>C) c.87T>C (p.Asp29=) c.114T>C (p.Asp38=) c.969T>C (p.Asp323=) c.783T>C (p.Asp261=) c.702T>C (p.Asp234=) c.408T>C (p.Asp136=) c.789T>C (p.Asp263=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688753A>T | CA346750002 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1044T>A (p.Asp348Glu) c.948-614T>A (n.948-614T>A) c.3441+17073A>T (n.3441+17073A>T) c.948-170T>A (n.948-170T>A) c.963T>A (p.Asp321Glu) c.276+17073A>T (n.276+17073A>T) c.*220+5471T>A (n.*220+5471T>A) c.87T>A (p.Asp29Glu) c.114T>A (p.Asp38Glu) c.969T>A (p.Asp323Glu) c.783T>A (p.Asp261Glu) c.702T>A (p.Asp234Glu) c.408T>A (p.Asp136Glu) c.789T>A (p.Asp263Glu) | |
2 | g.48688754T>A | CA346750004 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1043A>T (p.Asp348Val) c.948-615A>T (n.948-615A>T) c.3441+17074T>A (n.3441+17074T>A) c.948-171A>T (n.948-171A>T) c.962A>T (p.Asp321Val) c.276+17074T>A (n.276+17074T>A) c.*220+5470A>T (n.*220+5470A>T) c.86A>T (p.Asp29Val) c.113A>T (p.Asp38Val) c.968A>T (p.Asp323Val) c.782A>T (p.Asp261Val) c.701A>T (p.Asp234Val) c.407A>T (p.Asp136Val) c.788A>T (p.Asp263Val) | |
2 | g.48688754T>C | CA346750009 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1043A>G (p.Asp348Gly) c.948-615A>G (n.948-615A>G) c.3441+17074T>C (n.3441+17074T>C) c.948-171A>G (n.948-171A>G) c.962A>G (p.Asp321Gly) c.276+17074T>C (n.276+17074T>C) c.*220+5470A>G (n.*220+5470A>G) c.86A>G (p.Asp29Gly) c.113A>G (p.Asp38Gly) c.968A>G (p.Asp323Gly) c.782A>G (p.Asp261Gly) c.701A>G (p.Asp234Gly) c.407A>G (p.Asp136Gly) c.788A>G (p.Asp263Gly) | |
2 | g.48688754T>G | CA346750006 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1043A>C (p.Asp348Ala) c.948-615A>C (n.948-615A>C) c.3441+17074T>G (n.3441+17074T>G) c.948-171A>C (n.948-171A>C) c.962A>C (p.Asp321Ala) c.276+17074T>G (n.276+17074T>G) c.*220+5470A>C (n.*220+5470A>C) c.86A>C (p.Asp29Ala) c.113A>C (p.Asp38Ala) c.968A>C (p.Asp323Ala) c.782A>C (p.Asp261Ala) c.701A>C (p.Asp234Ala) c.407A>C (p.Asp136Ala) c.788A>C (p.Asp263Ala) | |
2 | g.48688755C>A | CA346750010 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1042G>T (p.Asp348Tyr) c.948-616G>T (n.948-616G>T) c.3441+17075C>A (n.3441+17075C>A) c.948-172G>T (n.948-172G>T) c.961G>T (p.Asp321Tyr) c.276+17075C>A (n.276+17075C>A) c.*220+5469G>T (n.*220+5469G>T) c.85G>T (p.Asp29Tyr) c.112G>T (p.Asp38Tyr) c.967G>T (p.Asp323Tyr) c.781G>T (p.Asp261Tyr) c.700G>T (p.Asp234Tyr) c.406G>T (p.Asp136Tyr) c.787G>T (p.Asp263Tyr) | |
2 | g.48688755C>G | CA346750011 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1042G>C (p.Asp348His) c.948-616G>C (n.948-616G>C) c.3441+17075C>G (n.3441+17075C>G) c.948-172G>C (n.948-172G>C) c.961G>C (p.Asp321His) c.276+17075C>G (n.276+17075C>G) c.*220+5469G>C (n.*220+5469G>C) c.85G>C (p.Asp29His) c.112G>C (p.Asp38His) c.967G>C (p.Asp323His) c.781G>C (p.Asp261His) c.700G>C (p.Asp234His) c.406G>C (p.Asp136His) c.787G>C (p.Asp263His) | COSMIC |
2 | g.48688755C>T | CA346750012 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1042G>A (p.Asp348Asn) c.948-616G>A (n.948-616G>A) c.3441+17075C>T (n.3441+17075C>T) c.948-172G>A (n.948-172G>A) c.961G>A (p.Asp321Asn) c.276+17075C>T (n.276+17075C>T) c.*220+5469G>A (n.*220+5469G>A) c.85G>A (p.Asp29Asn) c.112G>A (p.Asp38Asn) c.967G>A (p.Asp323Asn) c.781G>A (p.Asp261Asn) c.700G>A (p.Asp234Asn) c.406G>A (p.Asp136Asn) c.787G>A (p.Asp263Asn) | |
2 | g.48688756T>A | CA426124790 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1041A>T (p.Pro347=) c.948-617A>T (n.948-617A>T) c.3441+17076T>A (n.3441+17076T>A) c.948-173A>T (n.948-173A>T) c.960A>T (p.Pro320=) c.276+17076T>A (n.276+17076T>A) c.*220+5468A>T (n.*220+5468A>T) c.84A>T (p.Pro28=) c.111A>T (p.Pro37=) c.966A>T (p.Pro322=) c.780A>T (p.Pro260=) c.699A>T (p.Pro233=) c.405A>T (p.Pro135=) c.786A>T (p.Pro262=) | |
2 | g.48688756T>C | CA426124791 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1041A>G (p.Pro347=) c.948-617A>G (n.948-617A>G) c.3441+17076T>C (n.3441+17076T>C) c.948-173A>G (n.948-173A>G) c.960A>G (p.Pro320=) c.276+17076T>C (n.276+17076T>C) c.*220+5468A>G (n.*220+5468A>G) c.84A>G (p.Pro28=) c.111A>G (p.Pro37=) c.966A>G (p.Pro322=) c.780A>G (p.Pro260=) c.699A>G (p.Pro233=) c.405A>G (p.Pro135=) c.786A>G (p.Pro262=) | gnomAD v4 COSMIC |
2 | g.48688756T>G | CA426124792 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1041A>C (p.Pro347=) c.948-617A>C (n.948-617A>C) c.3441+17076T>G (n.3441+17076T>G) c.948-173A>C (n.948-173A>C) c.960A>C (p.Pro320=) c.276+17076T>G (n.276+17076T>G) c.*220+5468A>C (n.*220+5468A>C) c.84A>C (p.Pro28=) c.111A>C (p.Pro37=) c.966A>C (p.Pro322=) c.780A>C (p.Pro260=) c.699A>C (p.Pro233=) c.405A>C (p.Pro135=) c.786A>C (p.Pro262=) | |
2 | g.48688757G>A | CA346750013 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1040C>T (p.Pro347Leu) c.948-618C>T (n.948-618C>T) c.3441+17077G>A (n.3441+17077G>A) c.948-174C>T (n.948-174C>T) c.959C>T (p.Pro320Leu) c.276+17077G>A (n.276+17077G>A) c.*220+5467C>T (n.*220+5467C>T) c.83C>T (p.Pro28Leu) c.110C>T (p.Pro37Leu) c.965C>T (p.Pro322Leu) c.779C>T (p.Pro260Leu) c.698C>T (p.Pro233Leu) c.404C>T (p.Pro135Leu) c.785C>T (p.Pro262Leu) | |
2 | g.48688757G>C | CA346750014 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1040C>G (p.Pro347Arg) c.948-618C>G (n.948-618C>G) c.3441+17077G>C (n.3441+17077G>C) c.948-174C>G (n.948-174C>G) c.959C>G (p.Pro320Arg) c.276+17077G>C (n.276+17077G>C) c.*220+5467C>G (n.*220+5467C>G) c.83C>G (p.Pro28Arg) c.110C>G (p.Pro37Arg) c.965C>G (p.Pro322Arg) c.779C>G (p.Pro260Arg) c.698C>G (p.Pro233Arg) c.404C>G (p.Pro135Arg) c.785C>G (p.Pro262Arg) | |
2 | g.48688757G>T | CA346750017 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1040C>A (p.Pro347Gln) c.948-618C>A (n.948-618C>A) c.3441+17077G>T (n.3441+17077G>T) c.948-174C>A (n.948-174C>A) c.959C>A (p.Pro320Gln) c.276+17077G>T (n.276+17077G>T) c.*220+5467C>A (n.*220+5467C>A) c.83C>A (p.Pro28Gln) c.110C>A (p.Pro37Gln) c.965C>A (p.Pro322Gln) c.779C>A (p.Pro260Gln) c.698C>A (p.Pro233Gln) c.404C>A (p.Pro135Gln) c.785C>A (p.Pro262Gln) | |
2 | g.48688758G>A | CA346750018 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1039C>T (p.Pro347Ser) c.948-619C>T (n.948-619C>T) c.3441+17078G>A (n.3441+17078G>A) c.948-175C>T (n.948-175C>T) c.958C>T (p.Pro320Ser) c.276+17078G>A (n.276+17078G>A) c.*220+5466C>T (n.*220+5466C>T) c.82C>T (p.Pro28Ser) c.109C>T (p.Pro37Ser) c.964C>T (p.Pro322Ser) c.778C>T (p.Pro260Ser) c.697C>T (p.Pro233Ser) c.403C>T (p.Pro135Ser) c.784C>T (p.Pro262Ser) | |
2 | g.48688758G>C | CA1653091 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1039C>G (p.Pro347Ala) c.948-619C>G (n.948-619C>G) c.3441+17078G>C (n.3441+17078G>C) c.948-175C>G (n.948-175C>G) c.958C>G (p.Pro320Ala) c.276+17078G>C (n.276+17078G>C) c.*220+5466C>G (n.*220+5466C>G) c.82C>G (p.Pro28Ala) c.109C>G (p.Pro37Ala) c.964C>G (p.Pro322Ala) c.778C>G (p.Pro260Ala) c.697C>G (p.Pro233Ala) c.403C>G (p.Pro135Ala) c.784C>G (p.Pro262Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48688758G= | CA1248601259 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1039C= (p.Pro347=) c.948-619C= (n.948-619C=) c.3441+17078G= (n.3441+17078G=) c.948-175C= (n.948-175C=) c.958C= (p.Pro320=) c.276+17078G= (n.276+17078G=) c.*220+5466C= (n.*220+5466C=) c.82C= (p.Pro28=) c.109C= (p.Pro37=) c.964C= (p.Pro322=) c.778C= (p.Pro260=) c.697C= (p.Pro233=) c.403C= (p.Pro135=) c.784C= (p.Pro262=) | |
2 | g.48688758G>T | CA346750022 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1039C>A (p.Pro347Thr) c.948-619C>A (n.948-619C>A) c.3441+17078G>T (n.3441+17078G>T) c.948-175C>A (n.948-175C>A) c.958C>A (p.Pro320Thr) c.276+17078G>T (n.276+17078G>T) c.*220+5466C>A (n.*220+5466C>A) c.82C>A (p.Pro28Thr) c.109C>A (p.Pro37Thr) c.964C>A (p.Pro322Thr) c.778C>A (p.Pro260Thr) c.697C>A (p.Pro233Thr) c.403C>A (p.Pro135Thr) c.784C>A (p.Pro262Thr) | |
2 | g.48688759T>A | CA346750024 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1038A>T (p.Glu346Asp) c.948-620A>T (n.948-620A>T) c.3441+17079T>A (n.3441+17079T>A) c.948-176A>T (n.948-176A>T) c.957A>T (p.Glu319Asp) c.276+17079T>A (n.276+17079T>A) c.*220+5465A>T (n.*220+5465A>T) c.81A>T (p.Glu27Asp) c.108A>T (p.Glu36Asp) c.963A>T (p.Glu321Asp) c.777A>T (p.Glu259Asp) c.696A>T (p.Glu232Asp) c.402A>T (p.Glu134Asp) c.783A>T (p.Glu261Asp) | |
2 | g.48688759T>C | CA426124796 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1038A>G (p.Glu346=) c.948-620A>G (n.948-620A>G) c.3441+17079T>C (n.3441+17079T>C) c.948-176A>G (n.948-176A>G) c.957A>G (p.Glu319=) c.276+17079T>C (n.276+17079T>C) c.*220+5465A>G (n.*220+5465A>G) c.81A>G (p.Glu27=) c.108A>G (p.Glu36=) c.963A>G (p.Glu321=) c.777A>G (p.Glu259=) c.696A>G (p.Glu232=) c.402A>G (p.Glu134=) c.783A>G (p.Glu261=) | |
2 | g.48688759T>G | CA346750034 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1038A>C (p.Glu346Asp) c.948-620A>C (n.948-620A>C) c.3441+17079T>G (n.3441+17079T>G) c.948-176A>C (n.948-176A>C) c.957A>C (p.Glu319Asp) c.276+17079T>G (n.276+17079T>G) c.*220+5465A>C (n.*220+5465A>C) c.81A>C (p.Glu27Asp) c.108A>C (p.Glu36Asp) c.963A>C (p.Glu321Asp) c.777A>C (p.Glu259Asp) c.696A>C (p.Glu232Asp) c.402A>C (p.Glu134Asp) c.783A>C (p.Glu261Asp) | |
2 | g.48688760T>A | CA346750037 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1037A>T (p.Glu346Val) c.948-621A>T (n.948-621A>T) c.3441+17080T>A (n.3441+17080T>A) c.948-177A>T (n.948-177A>T) c.956A>T (p.Glu319Val) c.276+17080T>A (n.276+17080T>A) c.*220+5464A>T (n.*220+5464A>T) c.80A>T (p.Glu27Val) c.107A>T (p.Glu36Val) c.962A>T (p.Glu321Val) c.776A>T (p.Glu259Val) c.695A>T (p.Glu232Val) c.401A>T (p.Glu134Val) c.782A>T (p.Glu261Val) | |
2 | g.48688760T>C | CA346750048 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1037A>G (p.Glu346Gly) c.948-621A>G (n.948-621A>G) c.3441+17080T>C (n.3441+17080T>C) c.948-177A>G (n.948-177A>G) c.956A>G (p.Glu319Gly) c.276+17080T>C (n.276+17080T>C) c.*220+5464A>G (n.*220+5464A>G) c.80A>G (p.Glu27Gly) c.107A>G (p.Glu36Gly) c.962A>G (p.Glu321Gly) c.776A>G (p.Glu259Gly) c.695A>G (p.Glu232Gly) c.401A>G (p.Glu134Gly) c.782A>G (p.Glu261Gly) | |
2 | g.48688760T>G | CA346750040 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1037A>C (p.Glu346Ala) c.948-621A>C (n.948-621A>C) c.3441+17080T>G (n.3441+17080T>G) c.948-177A>C (n.948-177A>C) c.956A>C (p.Glu319Ala) c.276+17080T>G (n.276+17080T>G) c.*220+5464A>C (n.*220+5464A>C) c.80A>C (p.Glu27Ala) c.107A>C (p.Glu36Ala) c.962A>C (p.Glu321Ala) c.776A>C (p.Glu259Ala) c.695A>C (p.Glu232Ala) c.401A>C (p.Glu134Ala) c.782A>C (p.Glu261Ala) | |
2 | g.48688761C>A | CA346750049 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1036G>T (p.Glu346Ter) c.948-622G>T (n.948-622G>T) c.3441+17081C>A (n.3441+17081C>A) c.948-178G>T (n.948-178G>T) c.955G>T (p.Glu319Ter) c.276+17081C>A (n.276+17081C>A) c.*220+5463G>T (n.*220+5463G>T) c.79G>T (p.Glu27Ter) c.106G>T (p.Glu36Ter) c.961G>T (p.Glu321Ter) c.775G>T (p.Glu259Ter) c.694G>T (p.Glu232Ter) c.400G>T (p.Glu134Ter) c.781G>T (p.Glu261Ter) | |
2 | g.48688761C>G | CA346750053 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1036G>C (p.Glu346Gln) c.948-622G>C (n.948-622G>C) c.3441+17081C>G (n.3441+17081C>G) c.948-178G>C (n.948-178G>C) c.955G>C (p.Glu319Gln) c.276+17081C>G (n.276+17081C>G) c.*220+5463G>C (n.*220+5463G>C) c.79G>C (p.Glu27Gln) c.106G>C (p.Glu36Gln) c.961G>C (p.Glu321Gln) c.775G>C (p.Glu259Gln) c.694G>C (p.Glu232Gln) c.400G>C (p.Glu134Gln) c.781G>C (p.Glu261Gln) | |
2 | g.48688761C>T | CA346750051 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1036G>A (p.Glu346Lys) c.948-622G>A (n.948-622G>A) c.3441+17081C>T (n.3441+17081C>T) c.948-178G>A (n.948-178G>A) c.955G>A (p.Glu319Lys) c.276+17081C>T (n.276+17081C>T) c.*220+5463G>A (n.*220+5463G>A) c.79G>A (p.Glu27Lys) c.106G>A (p.Glu36Lys) c.961G>A (p.Glu321Lys) c.775G>A (p.Glu259Lys) c.694G>A (p.Glu232Lys) c.400G>A (p.Glu134Lys) c.781G>A (p.Glu261Lys) | COSMIC |
2 | g.48688762A>C | CA426124800 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1035T>G (p.Pro345=) c.948-623T>G (n.948-623T>G) c.3441+17082A>C (n.3441+17082A>C) c.948-179T>G (n.948-179T>G) c.954T>G (p.Pro318=) c.276+17082A>C (n.276+17082A>C) c.*220+5462T>G (n.*220+5462T>G) c.78T>G (p.Pro26=) c.105T>G (p.Pro35=) c.960T>G (p.Pro320=) c.774T>G (p.Pro258=) c.693T>G (p.Pro231=) c.399T>G (p.Pro133=) c.780T>G (p.Pro260=) | |
2 | g.48688762A>G | CA426124801 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1035T>C (p.Pro345=) c.948-623T>C (n.948-623T>C) c.3441+17082A>G (n.3441+17082A>G) c.948-179T>C (n.948-179T>C) c.954T>C (p.Pro318=) c.276+17082A>G (n.276+17082A>G) c.*220+5462T>C (n.*220+5462T>C) c.78T>C (p.Pro26=) c.105T>C (p.Pro35=) c.960T>C (p.Pro320=) c.774T>C (p.Pro258=) c.693T>C (p.Pro231=) c.399T>C (p.Pro133=) c.780T>C (p.Pro260=) | |
2 | g.48688762A>T | CA426124802 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1035T>A (p.Pro345=) c.948-623T>A (n.948-623T>A) c.3441+17082A>T (n.3441+17082A>T) c.948-179T>A (n.948-179T>A) c.954T>A (p.Pro318=) c.276+17082A>T (n.276+17082A>T) c.*220+5462T>A (n.*220+5462T>A) c.78T>A (p.Pro26=) c.105T>A (p.Pro35=) c.960T>A (p.Pro320=) c.774T>A (p.Pro258=) c.693T>A (p.Pro231=) c.399T>A (p.Pro133=) c.780T>A (p.Pro260=) | |
2 | g.48688763G>A | CA346750055 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1034C>T (p.Pro345Leu) c.948-624C>T (n.948-624C>T) c.3441+17083G>A (n.3441+17083G>A) c.948-180C>T (n.948-180C>T) c.953C>T (p.Pro318Leu) c.276+17083G>A (n.276+17083G>A) c.*220+5461C>T (n.*220+5461C>T) c.77C>T (p.Pro26Leu) c.104C>T (p.Pro35Leu) c.959C>T (p.Pro320Leu) c.773C>T (p.Pro258Leu) c.692C>T (p.Pro231Leu) c.398C>T (p.Pro133Leu) c.779C>T (p.Pro260Leu) | |
2 | g.48688763G>C | CA346750060 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1034C>G (p.Pro345Arg) c.948-624C>G (n.948-624C>G) c.3441+17083G>C (n.3441+17083G>C) c.948-180C>G (n.948-180C>G) c.953C>G (p.Pro318Arg) c.276+17083G>C (n.276+17083G>C) c.*220+5461C>G (n.*220+5461C>G) c.77C>G (p.Pro26Arg) c.104C>G (p.Pro35Arg) c.959C>G (p.Pro320Arg) c.773C>G (p.Pro258Arg) c.692C>G (p.Pro231Arg) c.398C>G (p.Pro133Arg) c.779C>G (p.Pro260Arg) | |
2 | g.48688763G>T | CA346750058 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1034C>A (p.Pro345His) c.948-624C>A (n.948-624C>A) c.3441+17083G>T (n.3441+17083G>T) c.948-180C>A (n.948-180C>A) c.953C>A (p.Pro318His) c.276+17083G>T (n.276+17083G>T) c.*220+5461C>A (n.*220+5461C>A) c.77C>A (p.Pro26His) c.104C>A (p.Pro35His) c.959C>A (p.Pro320His) c.773C>A (p.Pro258His) c.692C>A (p.Pro231His) c.398C>A (p.Pro133His) c.779C>A (p.Pro260His) |