Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.48688226G>A | CA346746155 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1571C>T (p.Ser524Leu) c.948-87C>T (n.948-87C>T) c.3441+16546G>A (n.3441+16546G>A) c.*315C>T (n.*315C>T) c.1490C>T (p.Ser497Leu) c.276+16546G>A (n.276+16546G>A) c.*220+5998C>T (n.*220+5998C>T) c.614C>T (p.Ser205Leu) c.641C>T (p.Ser214Leu) c.1496C>T (p.Ser499Leu) c.1310C>T (p.Ser437Leu) c.1229C>T (p.Ser410Leu) c.935C>T (p.Ser312Leu) c.1316C>T (p.Ser439Leu) | COSMIC |
2 | g.48688226G>C | CA346746157 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1571C>G (p.Ser524Ter) c.948-87C>G (n.948-87C>G) c.3441+16546G>C (n.3441+16546G>C) c.*315C>G (n.*315C>G) c.1490C>G (p.Ser497Ter) c.276+16546G>C (n.276+16546G>C) c.*220+5998C>G (n.*220+5998C>G) c.614C>G (p.Ser205Ter) c.641C>G (p.Ser214Ter) c.1496C>G (p.Ser499Ter) c.1310C>G (p.Ser437Ter) c.1229C>G (p.Ser410Ter) c.935C>G (p.Ser312Ter) c.1316C>G (p.Ser439Ter) | |
2 | g.48688226G>T | CA346746159 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1571C>A (p.Ser524Ter) c.948-87C>A (n.948-87C>A) c.3441+16546G>T (n.3441+16546G>T) c.*315C>A (n.*315C>A) c.1490C>A (p.Ser497Ter) c.276+16546G>T (n.276+16546G>T) c.*220+5998C>A (n.*220+5998C>A) c.614C>A (p.Ser205Ter) c.641C>A (p.Ser214Ter) c.1496C>A (p.Ser499Ter) c.1310C>A (p.Ser437Ter) c.1229C>A (p.Ser410Ter) c.935C>A (p.Ser312Ter) c.1316C>A (p.Ser439Ter) | |
2 | g.48688227A>C | CA346746161 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1570T>G (p.Ser524Ala) c.948-88T>G (n.948-88T>G) c.3441+16547A>C (n.3441+16547A>C) c.*314T>G (n.*314T>G) c.1489T>G (p.Ser497Ala) c.276+16547A>C (n.276+16547A>C) c.*220+5997T>G (n.*220+5997T>G) c.613T>G (p.Ser205Ala) c.640T>G (p.Ser214Ala) c.1495T>G (p.Ser499Ala) c.1309T>G (p.Ser437Ala) c.1228T>G (p.Ser410Ala) c.934T>G (p.Ser312Ala) c.1315T>G (p.Ser439Ala) | |
2 | g.48688227A>G | CA346746162 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1570T>C (p.Ser524Pro) c.948-88T>C (n.948-88T>C) c.3441+16547A>G (n.3441+16547A>G) c.*314T>C (n.*314T>C) c.1489T>C (p.Ser497Pro) c.276+16547A>G (n.276+16547A>G) c.*220+5997T>C (n.*220+5997T>C) c.613T>C (p.Ser205Pro) c.640T>C (p.Ser214Pro) c.1495T>C (p.Ser499Pro) c.1309T>C (p.Ser437Pro) c.1228T>C (p.Ser410Pro) c.934T>C (p.Ser312Pro) c.1315T>C (p.Ser439Pro) | |
2 | g.48688227A>T | CA346746163 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1570T>A (p.Ser524Thr) c.948-88T>A (n.948-88T>A) c.3441+16547A>T (n.3441+16547A>T) c.*314T>A (n.*314T>A) c.1489T>A (p.Ser497Thr) c.276+16547A>T (n.276+16547A>T) c.*220+5997T>A (n.*220+5997T>A) c.613T>A (p.Ser205Thr) c.640T>A (p.Ser214Thr) c.1495T>A (p.Ser499Thr) c.1309T>A (p.Ser437Thr) c.1228T>A (p.Ser410Thr) c.934T>A (p.Ser312Thr) c.1315T>A (p.Ser439Thr) | |
2 | g.48688228G>A | CA426125391 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1569C>T (p.Leu523=) c.948-89C>T (n.948-89C>T) c.3441+16548G>A (n.3441+16548G>A) c.*313C>T (n.*313C>T) c.1488C>T (p.Leu496=) c.276+16548G>A (n.276+16548G>A) c.*220+5996C>T (n.*220+5996C>T) c.612C>T (p.Leu204=) c.639C>T (p.Leu213=) c.1494C>T (p.Leu498=) c.1308C>T (p.Leu436=) c.1227C>T (p.Leu409=) c.933C>T (p.Leu311=) c.1314C>T (p.Leu438=) | gnomAD v4 |
2 | g.48688228G>C | CA426125392 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1569C>G (p.Leu523=) c.948-89C>G (n.948-89C>G) c.3441+16548G>C (n.3441+16548G>C) c.*313C>G (n.*313C>G) c.1488C>G (p.Leu496=) c.276+16548G>C (n.276+16548G>C) c.*220+5996C>G (n.*220+5996C>G) c.612C>G (p.Leu204=) c.639C>G (p.Leu213=) c.1494C>G (p.Leu498=) c.1308C>G (p.Leu436=) c.1227C>G (p.Leu409=) c.933C>G (p.Leu311=) c.1314C>G (p.Leu438=) | |
2 | g.48688228G>T | CA426125393 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1569C>A (p.Leu523=) c.948-89C>A (n.948-89C>A) c.3441+16548G>T (n.3441+16548G>T) c.*313C>A (n.*313C>A) c.1488C>A (p.Leu496=) c.276+16548G>T (n.276+16548G>T) c.*220+5996C>A (n.*220+5996C>A) c.612C>A (p.Leu204=) c.639C>A (p.Leu213=) c.1494C>A (p.Leu498=) c.1308C>A (p.Leu436=) c.1227C>A (p.Leu409=) c.933C>A (p.Leu311=) c.1314C>A (p.Leu438=) | |
2 | g.48688229A>C | CA346746169 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1568T>G (p.Leu523Arg) c.948-90T>G (n.948-90T>G) c.3441+16549A>C (n.3441+16549A>C) c.*312T>G (n.*312T>G) c.1487T>G (p.Leu496Arg) c.276+16549A>C (n.276+16549A>C) c.*220+5995T>G (n.*220+5995T>G) c.611T>G (p.Leu204Arg) c.638T>G (p.Leu213Arg) c.1493T>G (p.Leu498Arg) c.1307T>G (p.Leu436Arg) c.1226T>G (p.Leu409Arg) c.932T>G (p.Leu311Arg) c.1313T>G (p.Leu438Arg) | gnomAD v4 |
2 | g.48688229A>G | CA346746172 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1568T>C (p.Leu523Pro) c.948-90T>C (n.948-90T>C) c.3441+16549A>G (n.3441+16549A>G) c.*312T>C (n.*312T>C) c.1487T>C (p.Leu496Pro) c.276+16549A>G (n.276+16549A>G) c.*220+5995T>C (n.*220+5995T>C) c.611T>C (p.Leu204Pro) c.638T>C (p.Leu213Pro) c.1493T>C (p.Leu498Pro) c.1307T>C (p.Leu436Pro) c.1226T>C (p.Leu409Pro) c.932T>C (p.Leu311Pro) c.1313T>C (p.Leu438Pro) | |
2 | g.48688229A>T | CA346746165 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1568T>A (p.Leu523His) c.948-90T>A (n.948-90T>A) c.3441+16549A>T (n.3441+16549A>T) c.*312T>A (n.*312T>A) c.1487T>A (p.Leu496His) c.276+16549A>T (n.276+16549A>T) c.*220+5995T>A (n.*220+5995T>A) c.611T>A (p.Leu204His) c.638T>A (p.Leu213His) c.1493T>A (p.Leu498His) c.1307T>A (p.Leu436His) c.1226T>A (p.Leu409His) c.932T>A (p.Leu311His) c.1313T>A (p.Leu438His) | |
2 | g.48688230G>A | CA346746177 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1567C>T (p.Leu523Phe) c.948-91C>T (n.948-91C>T) c.3441+16550G>A (n.3441+16550G>A) c.*311C>T (n.*311C>T) c.1486C>T (p.Leu496Phe) c.276+16550G>A (n.276+16550G>A) c.*220+5994C>T (n.*220+5994C>T) c.610C>T (p.Leu204Phe) c.637C>T (p.Leu213Phe) c.1492C>T (p.Leu498Phe) c.1306C>T (p.Leu436Phe) c.1225C>T (p.Leu409Phe) c.931C>T (p.Leu311Phe) c.1312C>T (p.Leu438Phe) | COSMIC |
2 | g.48688230G>C | CA346746176 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1567C>G (p.Leu523Val) c.948-91C>G (n.948-91C>G) c.3441+16550G>C (n.3441+16550G>C) c.*311C>G (n.*311C>G) c.1486C>G (p.Leu496Val) c.276+16550G>C (n.276+16550G>C) c.*220+5994C>G (n.*220+5994C>G) c.610C>G (p.Leu204Val) c.637C>G (p.Leu213Val) c.1492C>G (p.Leu498Val) c.1306C>G (p.Leu436Val) c.1225C>G (p.Leu409Val) c.931C>G (p.Leu311Val) c.1312C>G (p.Leu438Val) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48688230G= | CA1248601041 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1567C= (p.Leu523=) c.948-91C= (n.948-91C=) c.3441+16550G= (n.3441+16550G=) c.*311C= (n.*311C=) c.1486C= (p.Leu496=) c.276+16550G= (n.276+16550G=) c.*220+5994C= (n.*220+5994C=) c.610C= (p.Leu204=) c.637C= (p.Leu213=) c.1492C= (p.Leu498=) c.1306C= (p.Leu436=) c.1225C= (p.Leu409=) c.931C= (p.Leu311=) c.1312C= (p.Leu438=) | |
2 | g.48688230G>T | CA346746178 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1567C>A (p.Leu523Ile) c.948-91C>A (n.948-91C>A) c.3441+16550G>T (n.3441+16550G>T) c.*311C>A (n.*311C>A) c.1486C>A (p.Leu496Ile) c.276+16550G>T (n.276+16550G>T) c.*220+5994C>A (n.*220+5994C>A) c.610C>A (p.Leu204Ile) c.637C>A (p.Leu213Ile) c.1492C>A (p.Leu498Ile) c.1306C>A (p.Leu436Ile) c.1225C>A (p.Leu409Ile) c.931C>A (p.Leu311Ile) c.1312C>A (p.Leu438Ile) | gnomAD v4 |
2 | g.48688231A>C | CA426125403 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1566T>G (p.Thr522=) c.948-92T>G (n.948-92T>G) c.3441+16551A>C (n.3441+16551A>C) c.*310T>G (n.*310T>G) c.1485T>G (p.Thr495=) c.276+16551A>C (n.276+16551A>C) c.*220+5993T>G (n.*220+5993T>G) c.609T>G (p.Thr203=) c.636T>G (p.Thr212=) c.1491T>G (p.Thr497=) c.1305T>G (p.Thr435=) c.1224T>G (p.Thr408=) c.930T>G (p.Thr310=) c.1311T>G (p.Thr437=) | |
2 | g.48688231A>G | CA426125407 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1566T>C (p.Thr522=) c.948-92T>C (n.948-92T>C) c.3441+16551A>G (n.3441+16551A>G) c.*310T>C (n.*310T>C) c.1485T>C (p.Thr495=) c.276+16551A>G (n.276+16551A>G) c.*220+5993T>C (n.*220+5993T>C) c.609T>C (p.Thr203=) c.636T>C (p.Thr212=) c.1491T>C (p.Thr497=) c.1305T>C (p.Thr435=) c.1224T>C (p.Thr408=) c.930T>C (p.Thr310=) c.1311T>C (p.Thr437=) | |
2 | g.48688231A>T | CA426125409 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1566T>A (p.Thr522=) c.948-92T>A (n.948-92T>A) c.3441+16551A>T (n.3441+16551A>T) c.*310T>A (n.*310T>A) c.1485T>A (p.Thr495=) c.276+16551A>T (n.276+16551A>T) c.*220+5993T>A (n.*220+5993T>A) c.609T>A (p.Thr203=) c.636T>A (p.Thr212=) c.1491T>A (p.Thr497=) c.1305T>A (p.Thr435=) c.1224T>A (p.Thr408=) c.930T>A (p.Thr310=) c.1311T>A (p.Thr437=) | gnomAD v4 |
2 | g.48688232G>A | CA346746179 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1565C>T (p.Thr522Ile) c.948-93C>T (n.948-93C>T) c.3441+16552G>A (n.3441+16552G>A) c.*309C>T (n.*309C>T) c.1484C>T (p.Thr495Ile) c.276+16552G>A (n.276+16552G>A) c.*220+5992C>T (n.*220+5992C>T) c.608C>T (p.Thr203Ile) c.635C>T (p.Thr212Ile) c.1490C>T (p.Thr497Ile) c.1304C>T (p.Thr435Ile) c.1223C>T (p.Thr408Ile) c.929C>T (p.Thr310Ile) c.1310C>T (p.Thr437Ile) | COSMIC |
2 | g.48688232G>C | CA1653018 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1565C>G (p.Thr522Ser) c.948-93C>G (n.948-93C>G) c.3441+16552G>C (n.3441+16552G>C) c.*309C>G (n.*309C>G) c.1484C>G (p.Thr495Ser) c.276+16552G>C (n.276+16552G>C) c.*220+5992C>G (n.*220+5992C>G) c.608C>G (p.Thr203Ser) c.635C>G (p.Thr212Ser) c.1490C>G (p.Thr497Ser) c.1304C>G (p.Thr435Ser) c.1223C>G (p.Thr408Ser) c.929C>G (p.Thr310Ser) c.1310C>G (p.Thr437Ser) | dbSNP ExAC gnomAD v2 |
2 | g.48688232G= | CA1248601042 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1565C= (p.Thr522=) c.948-93C= (n.948-93C=) c.3441+16552G= (n.3441+16552G=) c.*309C= (n.*309C=) c.1484C= (p.Thr495=) c.276+16552G= (n.276+16552G=) c.*220+5992C= (n.*220+5992C=) c.608C= (p.Thr203=) c.635C= (p.Thr212=) c.1490C= (p.Thr497=) c.1304C= (p.Thr435=) c.1223C= (p.Thr408=) c.929C= (p.Thr310=) c.1310C= (p.Thr437=) | |
2 | g.48688232G>T | CA346746181 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1565C>A (p.Thr522Asn) c.948-93C>A (n.948-93C>A) c.3441+16552G>T (n.3441+16552G>T) c.*309C>A (n.*309C>A) c.1484C>A (p.Thr495Asn) c.276+16552G>T (n.276+16552G>T) c.*220+5992C>A (n.*220+5992C>A) c.608C>A (p.Thr203Asn) c.635C>A (p.Thr212Asn) c.1490C>A (p.Thr497Asn) c.1304C>A (p.Thr435Asn) c.1223C>A (p.Thr408Asn) c.929C>A (p.Thr310Asn) c.1310C>A (p.Thr437Asn) | |
2 | g.48688233T>A | CA346746191 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1564A>T (p.Thr522Ser) c.948-94A>T (n.948-94A>T) c.3441+16553T>A (n.3441+16553T>A) c.*308A>T (n.*308A>T) c.1483A>T (p.Thr495Ser) c.276+16553T>A (n.276+16553T>A) c.*220+5991A>T (n.*220+5991A>T) c.607A>T (p.Thr203Ser) c.634A>T (p.Thr212Ser) c.1489A>T (p.Thr497Ser) c.1303A>T (p.Thr435Ser) c.1222A>T (p.Thr408Ser) c.928A>T (p.Thr310Ser) c.1309A>T (p.Thr437Ser) | |
2 | g.48688233T>C | CA346746195 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1564A>G (p.Thr522Ala) c.948-94A>G (n.948-94A>G) c.3441+16553T>C (n.3441+16553T>C) c.*308A>G (n.*308A>G) c.1483A>G (p.Thr495Ala) c.276+16553T>C (n.276+16553T>C) c.*220+5991A>G (n.*220+5991A>G) c.607A>G (p.Thr203Ala) c.634A>G (p.Thr212Ala) c.1489A>G (p.Thr497Ala) c.1303A>G (p.Thr435Ala) c.1222A>G (p.Thr408Ala) c.928A>G (p.Thr310Ala) c.1309A>G (p.Thr437Ala) | |
2 | g.48688233T>G | CA346746198 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1564A>C (p.Thr522Pro) c.948-94A>C (n.948-94A>C) c.3441+16553T>G (n.3441+16553T>G) c.*308A>C (n.*308A>C) c.1483A>C (p.Thr495Pro) c.276+16553T>G (n.276+16553T>G) c.*220+5991A>C (n.*220+5991A>C) c.607A>C (p.Thr203Pro) c.634A>C (p.Thr212Pro) c.1489A>C (p.Thr497Pro) c.1303A>C (p.Thr435Pro) c.1222A>C (p.Thr408Pro) c.928A>C (p.Thr310Pro) c.1309A>C (p.Thr437Pro) | |
2 | g.48688234G>A | CA426125411 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1563C>T (p.Thr521=) c.948-95C>T (n.948-95C>T) c.3441+16554G>A (n.3441+16554G>A) c.*307C>T (n.*307C>T) c.1482C>T (p.Thr494=) c.276+16554G>A (n.276+16554G>A) c.*220+5990C>T (n.*220+5990C>T) c.606C>T (p.Thr202=) c.633C>T (p.Thr211=) c.1488C>T (p.Thr496=) c.1302C>T (p.Thr434=) c.1221C>T (p.Thr407=) c.927C>T (p.Thr309=) c.1308C>T (p.Thr436=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48688234G>C | CA426125414 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1563C>G (p.Thr521=) c.948-95C>G (n.948-95C>G) c.3441+16554G>C (n.3441+16554G>C) c.*307C>G (n.*307C>G) c.1482C>G (p.Thr494=) c.276+16554G>C (n.276+16554G>C) c.*220+5990C>G (n.*220+5990C>G) c.606C>G (p.Thr202=) c.633C>G (p.Thr211=) c.1488C>G (p.Thr496=) c.1302C>G (p.Thr434=) c.1221C>G (p.Thr407=) c.927C>G (p.Thr309=) c.1308C>G (p.Thr436=) | |
2 | g.48688234G= | CA1248601043 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1563C= (p.Thr521=) c.948-95C= (n.948-95C=) c.3441+16554G= (n.3441+16554G=) c.*307C= (n.*307C=) c.1482C= (p.Thr494=) c.276+16554G= (n.276+16554G=) c.*220+5990C= (n.*220+5990C=) c.606C= (p.Thr202=) c.633C= (p.Thr211=) c.1488C= (p.Thr496=) c.1302C= (p.Thr434=) c.1221C= (p.Thr407=) c.927C= (p.Thr309=) c.1308C= (p.Thr436=) | |
2 | g.48688234G>T | CA426125416 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1563C>A (p.Thr521=) c.948-95C>A (n.948-95C>A) c.3441+16554G>T (n.3441+16554G>T) c.*307C>A (n.*307C>A) c.1482C>A (p.Thr494=) c.276+16554G>T (n.276+16554G>T) c.*220+5990C>A (n.*220+5990C>A) c.606C>A (p.Thr202=) c.633C>A (p.Thr211=) c.1488C>A (p.Thr496=) c.1302C>A (p.Thr434=) c.1221C>A (p.Thr407=) c.927C>A (p.Thr309=) c.1308C>A (p.Thr436=) | |
2 | g.48688235G>A | CA346746205 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1562C>T (p.Thr521Ile) c.948-96C>T (n.948-96C>T) c.3441+16555G>A (n.3441+16555G>A) c.*306C>T (n.*306C>T) c.1481C>T (p.Thr494Ile) c.276+16555G>A (n.276+16555G>A) c.*220+5989C>T (n.*220+5989C>T) c.605C>T (p.Thr202Ile) c.632C>T (p.Thr211Ile) c.1487C>T (p.Thr496Ile) c.1301C>T (p.Thr434Ile) c.1220C>T (p.Thr407Ile) c.926C>T (p.Thr309Ile) c.1307C>T (p.Thr436Ile) | |
2 | g.48688235G>C | CA346746207 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1562C>G (p.Thr521Ser) c.948-96C>G (n.948-96C>G) c.3441+16555G>C (n.3441+16555G>C) c.*306C>G (n.*306C>G) c.1481C>G (p.Thr494Ser) c.276+16555G>C (n.276+16555G>C) c.*220+5989C>G (n.*220+5989C>G) c.605C>G (p.Thr202Ser) c.632C>G (p.Thr211Ser) c.1487C>G (p.Thr496Ser) c.1301C>G (p.Thr434Ser) c.1220C>G (p.Thr407Ser) c.926C>G (p.Thr309Ser) c.1307C>G (p.Thr436Ser) | |
2 | g.48688235G= | CA1248601044 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1562C= (p.Thr521=) c.948-96C= (n.948-96C=) c.3441+16555G= (n.3441+16555G=) c.*306C= (n.*306C=) c.1481C= (p.Thr494=) c.276+16555G= (n.276+16555G=) c.*220+5989C= (n.*220+5989C=) c.605C= (p.Thr202=) c.632C= (p.Thr211=) c.1487C= (p.Thr496=) c.1301C= (p.Thr434=) c.1220C= (p.Thr407=) c.926C= (p.Thr309=) c.1307C= (p.Thr436=) | |
2 | g.48688235G>T | CA346746220 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1562C>A (p.Thr521Asn) c.948-96C>A (n.948-96C>A) c.3441+16555G>T (n.3441+16555G>T) c.*306C>A (n.*306C>A) c.1481C>A (p.Thr494Asn) c.276+16555G>T (n.276+16555G>T) c.*220+5989C>A (n.*220+5989C>A) c.605C>A (p.Thr202Asn) c.632C>A (p.Thr211Asn) c.1487C>A (p.Thr496Asn) c.1301C>A (p.Thr434Asn) c.1220C>A (p.Thr407Asn) c.926C>A (p.Thr309Asn) c.1307C>A (p.Thr436Asn) | dbSNP COSMIC |
2 | g.48688236T>A | CA346746223 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1561A>T (p.Thr521Ser) c.948-97A>T (n.948-97A>T) c.3441+16556T>A (n.3441+16556T>A) c.*305A>T (n.*305A>T) c.1480A>T (p.Thr494Ser) c.276+16556T>A (n.276+16556T>A) c.*220+5988A>T (n.*220+5988A>T) c.604A>T (p.Thr202Ser) c.631A>T (p.Thr211Ser) c.1486A>T (p.Thr496Ser) c.1300A>T (p.Thr434Ser) c.1219A>T (p.Thr407Ser) c.925A>T (p.Thr309Ser) c.1306A>T (p.Thr436Ser) | |
2 | g.48688236T>C | CA346746227 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1561A>G (p.Thr521Ala) c.948-97A>G (n.948-97A>G) c.3441+16556T>C (n.3441+16556T>C) c.*305A>G (n.*305A>G) c.1480A>G (p.Thr494Ala) c.276+16556T>C (n.276+16556T>C) c.*220+5988A>G (n.*220+5988A>G) c.604A>G (p.Thr202Ala) c.631A>G (p.Thr211Ala) c.1486A>G (p.Thr496Ala) c.1300A>G (p.Thr434Ala) c.1219A>G (p.Thr407Ala) c.925A>G (p.Thr309Ala) c.1306A>G (p.Thr436Ala) | gnomAD v4 |
2 | g.48688236T>G | CA346746230 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1561A>C (p.Thr521Pro) c.948-97A>C (n.948-97A>C) c.3441+16556T>G (n.3441+16556T>G) c.*305A>C (n.*305A>C) c.1480A>C (p.Thr494Pro) c.276+16556T>G (n.276+16556T>G) c.*220+5988A>C (n.*220+5988A>C) c.604A>C (p.Thr202Pro) c.631A>C (p.Thr211Pro) c.1486A>C (p.Thr496Pro) c.1300A>C (p.Thr434Pro) c.1219A>C (p.Thr407Pro) c.925A>C (p.Thr309Pro) c.1306A>C (p.Thr436Pro) | gnomAD v3 gnomAD v4 |
2 | g.48688237T>A | CA346746234 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1560A>T (p.Glu520Asp) c.948-98A>T (n.948-98A>T) c.3441+16557T>A (n.3441+16557T>A) c.*304A>T (n.*304A>T) c.1479A>T (p.Glu493Asp) c.276+16557T>A (n.276+16557T>A) c.*220+5987A>T (n.*220+5987A>T) c.603A>T (p.Glu201Asp) c.630A>T (p.Glu210Asp) c.1485A>T (p.Glu495Asp) c.1299A>T (p.Glu433Asp) c.1218A>T (p.Glu406Asp) c.924A>T (p.Glu308Asp) c.1305A>T (p.Glu435Asp) | |
2 | g.48688237T>C | CA426125421 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1560A>G (p.Glu520=) c.948-98A>G (n.948-98A>G) c.3441+16557T>C (n.3441+16557T>C) c.*304A>G (n.*304A>G) c.1479A>G (p.Glu493=) c.276+16557T>C (n.276+16557T>C) c.*220+5987A>G (n.*220+5987A>G) c.603A>G (p.Glu201=) c.630A>G (p.Glu210=) c.1485A>G (p.Glu495=) c.1299A>G (p.Glu433=) c.1218A>G (p.Glu406=) c.924A>G (p.Glu308=) c.1305A>G (p.Glu435=) | |
2 | g.48688237T>G | CA346746231 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1560A>C (p.Glu520Asp) c.948-98A>C (n.948-98A>C) c.3441+16557T>G (n.3441+16557T>G) c.*304A>C (n.*304A>C) c.1479A>C (p.Glu493Asp) c.276+16557T>G (n.276+16557T>G) c.*220+5987A>C (n.*220+5987A>C) c.603A>C (p.Glu201Asp) c.630A>C (p.Glu210Asp) c.1485A>C (p.Glu495Asp) c.1299A>C (p.Glu433Asp) c.1218A>C (p.Glu406Asp) c.924A>C (p.Glu308Asp) c.1305A>C (p.Glu435Asp) | gnomAD v4 |
2 | g.48688238T>A | CA346746238 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1559A>T (p.Glu520Val) c.948-99A>T (n.948-99A>T) c.3441+16558T>A (n.3441+16558T>A) c.*303A>T (n.*303A>T) c.1478A>T (p.Glu493Val) c.276+16558T>A (n.276+16558T>A) c.*220+5986A>T (n.*220+5986A>T) c.602A>T (p.Glu201Val) c.629A>T (p.Glu210Val) c.1484A>T (p.Glu495Val) c.1298A>T (p.Glu433Val) c.1217A>T (p.Glu406Val) c.923A>T (p.Glu308Val) c.1304A>T (p.Glu435Val) | |
2 | g.48688238T>C | CA346746241 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1559A>G (p.Glu520Gly) c.948-99A>G (n.948-99A>G) c.3441+16558T>C (n.3441+16558T>C) c.*303A>G (n.*303A>G) c.1478A>G (p.Glu493Gly) c.276+16558T>C (n.276+16558T>C) c.*220+5986A>G (n.*220+5986A>G) c.602A>G (p.Glu201Gly) c.629A>G (p.Glu210Gly) c.1484A>G (p.Glu495Gly) c.1298A>G (p.Glu433Gly) c.1217A>G (p.Glu406Gly) c.923A>G (p.Glu308Gly) c.1304A>G (p.Glu435Gly) | |
2 | g.48688238T>G | CA346746244 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1559A>C (p.Glu520Ala) c.948-99A>C (n.948-99A>C) c.3441+16558T>G (n.3441+16558T>G) c.*303A>C (n.*303A>C) c.1478A>C (p.Glu493Ala) c.276+16558T>G (n.276+16558T>G) c.*220+5986A>C (n.*220+5986A>C) c.602A>C (p.Glu201Ala) c.629A>C (p.Glu210Ala) c.1484A>C (p.Glu495Ala) c.1298A>C (p.Glu433Ala) c.1217A>C (p.Glu406Ala) c.923A>C (p.Glu308Ala) c.1304A>C (p.Glu435Ala) | |
2 | g.48688239C>A | CA346746248 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1558G>T (p.Glu520Ter) c.948-100G>T (n.948-100G>T) c.3441+16559C>A (n.3441+16559C>A) c.*302G>T (n.*302G>T) c.1477G>T (p.Glu493Ter) c.276+16559C>A (n.276+16559C>A) c.*220+5985G>T (n.*220+5985G>T) c.601G>T (p.Glu201Ter) c.628G>T (p.Glu210Ter) c.1483G>T (p.Glu495Ter) c.1297G>T (p.Glu433Ter) c.1216G>T (p.Glu406Ter) c.922G>T (p.Glu308Ter) c.1303G>T (p.Glu435Ter) | |
2 | g.48688239C>G | CA346746251 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1558G>C (p.Glu520Gln) c.948-100G>C (n.948-100G>C) c.3441+16559C>G (n.3441+16559C>G) c.*302G>C (n.*302G>C) c.1477G>C (p.Glu493Gln) c.276+16559C>G (n.276+16559C>G) c.*220+5985G>C (n.*220+5985G>C) c.601G>C (p.Glu201Gln) c.628G>C (p.Glu210Gln) c.1483G>C (p.Glu495Gln) c.1297G>C (p.Glu433Gln) c.1216G>C (p.Glu406Gln) c.922G>C (p.Glu308Gln) c.1303G>C (p.Glu435Gln) | gnomAD v4 |
2 | g.48688239C>T | CA346746252 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1558G>A (p.Glu520Lys) c.948-100G>A (n.948-100G>A) c.3441+16559C>T (n.3441+16559C>T) c.*302G>A (n.*302G>A) c.1477G>A (p.Glu493Lys) c.276+16559C>T (n.276+16559C>T) c.*220+5985G>A (n.*220+5985G>A) c.601G>A (p.Glu201Lys) c.628G>A (p.Glu210Lys) c.1483G>A (p.Glu495Lys) c.1297G>A (p.Glu433Lys) c.1216G>A (p.Glu406Lys) c.922G>A (p.Glu308Lys) c.1303G>A (p.Glu435Lys) | |
2 | g.48688240C>A | CA426125431 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1557G>T (p.Val519=) c.948-101G>T (n.948-101G>T) c.3441+16560C>A (n.3441+16560C>A) c.*301G>T (n.*301G>T) c.1476G>T (p.Val492=) c.276+16560C>A (n.276+16560C>A) c.*220+5984G>T (n.*220+5984G>T) c.600G>T (p.Val200=) c.627G>T (p.Val209=) c.1482G>T (p.Val494=) c.1296G>T (p.Val432=) c.1215G>T (p.Val405=) c.921G>T (p.Val307=) c.1302G>T (p.Val434=) | |
2 | g.48688240C= | CA1248601045 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1557G= (p.Val519=) c.948-101G= (n.948-101G=) c.3441+16560C= (n.3441+16560C=) c.*301G= (n.*301G=) c.1476G= (p.Val492=) c.276+16560C= (n.276+16560C=) c.*220+5984G= (n.*220+5984G=) c.600G= (p.Val200=) c.627G= (p.Val209=) c.1482G= (p.Val494=) c.1296G= (p.Val432=) c.1215G= (p.Val405=) c.921G= (p.Val307=) c.1302G= (p.Val434=) | |
2 | g.48688240C>G | CA426125432 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1557G>C (p.Val519=) c.948-101G>C (n.948-101G>C) c.3441+16560C>G (n.3441+16560C>G) c.*301G>C (n.*301G>C) c.1476G>C (p.Val492=) c.276+16560C>G (n.276+16560C>G) c.*220+5984G>C (n.*220+5984G>C) c.600G>C (p.Val200=) c.627G>C (p.Val209=) c.1482G>C (p.Val494=) c.1296G>C (p.Val432=) c.1215G>C (p.Val405=) c.921G>C (p.Val307=) c.1302G>C (p.Val434=) | |
2 | g.48688240C>T | CA46752909 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1557G>A (p.Val519=) c.948-101G>A (n.948-101G>A) c.3441+16560C>T (n.3441+16560C>T) c.*301G>A (n.*301G>A) c.1476G>A (p.Val492=) c.276+16560C>T (n.276+16560C>T) c.*220+5984G>A (n.*220+5984G>A) c.600G>A (p.Val200=) c.627G>A (p.Val209=) c.1482G>A (p.Val494=) c.1296G>A (p.Val432=) c.1215G>A (p.Val405=) c.921G>A (p.Val307=) c.1302G>A (p.Val434=) | dbSNP |
2 | g.48688241A= | CA1248601046 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1556T= (p.Val519=) c.948-102T= (n.948-102T=) c.3441+16561A= (n.3441+16561A=) c.*300T= (n.*300T=) c.1475T= (p.Val492=) c.276+16561A= (n.276+16561A=) c.*220+5983T= (n.*220+5983T=) c.599T= (p.Val200=) c.626T= (p.Val209=) c.1481T= (p.Val494=) c.1295T= (p.Val432=) c.1214T= (p.Val405=) c.920T= (p.Val307=) c.1301T= (p.Val434=) | |
2 | g.48688241A>C | CA346746270 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1556T>G (p.Val519Gly) c.948-102T>G (n.948-102T>G) c.3441+16561A>C (n.3441+16561A>C) c.*300T>G (n.*300T>G) c.1475T>G (p.Val492Gly) c.276+16561A>C (n.276+16561A>C) c.*220+5983T>G (n.*220+5983T>G) c.599T>G (p.Val200Gly) c.626T>G (p.Val209Gly) c.1481T>G (p.Val494Gly) c.1295T>G (p.Val432Gly) c.1214T>G (p.Val405Gly) c.920T>G (p.Val307Gly) c.1301T>G (p.Val434Gly) | |
2 | g.48688241A>G | CA346746276 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1556T>C (p.Val519Ala) c.948-102T>C (n.948-102T>C) c.3441+16561A>G (n.3441+16561A>G) c.*300T>C (n.*300T>C) c.1475T>C (p.Val492Ala) c.276+16561A>G (n.276+16561A>G) c.*220+5983T>C (n.*220+5983T>C) c.599T>C (p.Val200Ala) c.626T>C (p.Val209Ala) c.1481T>C (p.Val494Ala) c.1295T>C (p.Val432Ala) c.1214T>C (p.Val405Ala) c.920T>C (p.Val307Ala) c.1301T>C (p.Val434Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688241A>T | CA346746279 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1556T>A (p.Val519Glu) c.948-102T>A (n.948-102T>A) c.3441+16561A>T (n.3441+16561A>T) c.*300T>A (n.*300T>A) c.1475T>A (p.Val492Glu) c.276+16561A>T (n.276+16561A>T) c.*220+5983T>A (n.*220+5983T>A) c.599T>A (p.Val200Glu) c.626T>A (p.Val209Glu) c.1481T>A (p.Val494Glu) c.1295T>A (p.Val432Glu) c.1214T>A (p.Val405Glu) c.920T>A (p.Val307Glu) c.1301T>A (p.Val434Glu) | |
2 | g.48688242C>A | CA346746282 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1555G>T (p.Val519Leu) c.948-103G>T (n.948-103G>T) c.3441+16562C>A (n.3441+16562C>A) c.*299G>T (n.*299G>T) c.1474G>T (p.Val492Leu) c.276+16562C>A (n.276+16562C>A) c.*220+5982G>T (n.*220+5982G>T) c.598G>T (p.Val200Leu) c.625G>T (p.Val209Leu) c.1480G>T (p.Val494Leu) c.1294G>T (p.Val432Leu) c.1213G>T (p.Val405Leu) c.919G>T (p.Val307Leu) c.1300G>T (p.Val434Leu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48688242C= | CA1248601047 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1555G= (p.Val519=) c.948-103G= (n.948-103G=) c.3441+16562C= (n.3441+16562C=) c.*299G= (n.*299G=) c.1474G= (p.Val492=) c.276+16562C= (n.276+16562C=) c.*220+5982G= (n.*220+5982G=) c.598G= (p.Val200=) c.625G= (p.Val209=) c.1480G= (p.Val494=) c.1294G= (p.Val432=) c.1213G= (p.Val405=) c.919G= (p.Val307=) c.1300G= (p.Val434=) | |
2 | g.48688242C>G | CA346746284 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1555G>C (p.Val519Leu) c.948-103G>C (n.948-103G>C) c.3441+16562C>G (n.3441+16562C>G) c.*299G>C (n.*299G>C) c.1474G>C (p.Val492Leu) c.276+16562C>G (n.276+16562C>G) c.*220+5982G>C (n.*220+5982G>C) c.598G>C (p.Val200Leu) c.625G>C (p.Val209Leu) c.1480G>C (p.Val494Leu) c.1294G>C (p.Val432Leu) c.1213G>C (p.Val405Leu) c.919G>C (p.Val307Leu) c.1300G>C (p.Val434Leu) | |
2 | g.48688242C>T | CA346746287 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1555G>A (p.Val519Met) c.948-103G>A (n.948-103G>A) c.3441+16562C>T (n.3441+16562C>T) c.*299G>A (n.*299G>A) c.1474G>A (p.Val492Met) c.276+16562C>T (n.276+16562C>T) c.*220+5982G>A (n.*220+5982G>A) c.598G>A (p.Val200Met) c.625G>A (p.Val209Met) c.1480G>A (p.Val494Met) c.1294G>A (p.Val432Met) c.1213G>A (p.Val405Met) c.919G>A (p.Val307Met) c.1300G>A (p.Val434Met) | |
2 | g.48688243A>C | CA346746296 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1554T>G (p.Asp518Glu) c.948-104T>G (n.948-104T>G) c.3441+16563A>C (n.3441+16563A>C) c.*298T>G (n.*298T>G) c.1473T>G (p.Asp491Glu) c.276+16563A>C (n.276+16563A>C) c.*220+5981T>G (n.*220+5981T>G) c.597T>G (p.Asp199Glu) c.624T>G (p.Asp208Glu) c.1479T>G (p.Asp493Glu) c.1293T>G (p.Asp431Glu) c.1212T>G (p.Asp404Glu) c.918T>G (p.Asp306Glu) c.1299T>G (p.Asp433Glu) | |
2 | g.48688243A>G | CA426125437 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1554T>C (p.Asp518=) c.948-104T>C (n.948-104T>C) c.3441+16563A>G (n.3441+16563A>G) c.*298T>C (n.*298T>C) c.1473T>C (p.Asp491=) c.276+16563A>G (n.276+16563A>G) c.*220+5981T>C (n.*220+5981T>C) c.597T>C (p.Asp199=) c.624T>C (p.Asp208=) c.1479T>C (p.Asp493=) c.1293T>C (p.Asp431=) c.1212T>C (p.Asp404=) c.918T>C (p.Asp306=) c.1299T>C (p.Asp433=) | |
2 | g.48688243A>T | CA346746290 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1554T>A (p.Asp518Glu) c.948-104T>A (n.948-104T>A) c.3441+16563A>T (n.3441+16563A>T) c.*298T>A (n.*298T>A) c.1473T>A (p.Asp491Glu) c.276+16563A>T (n.276+16563A>T) c.*220+5981T>A (n.*220+5981T>A) c.597T>A (p.Asp199Glu) c.624T>A (p.Asp208Glu) c.1479T>A (p.Asp493Glu) c.1293T>A (p.Asp431Glu) c.1212T>A (p.Asp404Glu) c.918T>A (p.Asp306Glu) c.1299T>A (p.Asp433Glu) | |
2 | g.48688244T>A | CA46752910 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1553A>T (p.Asp518Val) c.948-105A>T (n.948-105A>T) c.3441+16564T>A (n.3441+16564T>A) c.*297A>T (n.*297A>T) c.1472A>T (p.Asp491Val) c.276+16564T>A (n.276+16564T>A) c.*220+5980A>T (n.*220+5980A>T) c.596A>T (p.Asp199Val) c.623A>T (p.Asp208Val) c.1478A>T (p.Asp493Val) c.1292A>T (p.Asp431Val) c.1211A>T (p.Asp404Val) c.917A>T (p.Asp306Val) c.1298A>T (p.Asp433Val) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48688244T>C | CA346746302 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1553A>G (p.Asp518Gly) c.948-105A>G (n.948-105A>G) c.3441+16564T>C (n.3441+16564T>C) c.*297A>G (n.*297A>G) c.1472A>G (p.Asp491Gly) c.276+16564T>C (n.276+16564T>C) c.*220+5980A>G (n.*220+5980A>G) c.596A>G (p.Asp199Gly) c.623A>G (p.Asp208Gly) c.1478A>G (p.Asp493Gly) c.1292A>G (p.Asp431Gly) c.1211A>G (p.Asp404Gly) c.917A>G (p.Asp306Gly) c.1298A>G (p.Asp433Gly) | |
2 | g.48688244T>G | CA346746316 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1553A>C (p.Asp518Ala) c.948-105A>C (n.948-105A>C) c.3441+16564T>G (n.3441+16564T>G) c.*297A>C (n.*297A>C) c.1472A>C (p.Asp491Ala) c.276+16564T>G (n.276+16564T>G) c.*220+5980A>C (n.*220+5980A>C) c.596A>C (p.Asp199Ala) c.623A>C (p.Asp208Ala) c.1478A>C (p.Asp493Ala) c.1292A>C (p.Asp431Ala) c.1211A>C (p.Asp404Ala) c.917A>C (p.Asp306Ala) c.1298A>C (p.Asp433Ala) | |
2 | g.48688244T= | CA1248601048 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1553A= (p.Asp518=) c.948-105A= (n.948-105A=) c.3441+16564T= (n.3441+16564T=) c.*297A= (n.*297A=) c.1472A= (p.Asp491=) c.276+16564T= (n.276+16564T=) c.*220+5980A= (n.*220+5980A=) c.596A= (p.Asp199=) c.623A= (p.Asp208=) c.1478A= (p.Asp493=) c.1292A= (p.Asp431=) c.1211A= (p.Asp404=) c.917A= (p.Asp306=) c.1298A= (p.Asp433=) | |
2 | g.48688245C>A | CA346746319 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1552G>T (p.Asp518Tyr) c.948-106G>T (n.948-106G>T) c.3441+16565C>A (n.3441+16565C>A) c.*296G>T (n.*296G>T) c.1471G>T (p.Asp491Tyr) c.276+16565C>A (n.276+16565C>A) c.*220+5979G>T (n.*220+5979G>T) c.595G>T (p.Asp199Tyr) c.622G>T (p.Asp208Tyr) c.1477G>T (p.Asp493Tyr) c.1291G>T (p.Asp431Tyr) c.1210G>T (p.Asp404Tyr) c.916G>T (p.Asp306Tyr) c.1297G>T (p.Asp433Tyr) | |
2 | g.48688245C>G | CA346746322 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1552G>C (p.Asp518His) c.948-106G>C (n.948-106G>C) c.3441+16565C>G (n.3441+16565C>G) c.*296G>C (n.*296G>C) c.1471G>C (p.Asp491His) c.276+16565C>G (n.276+16565C>G) c.*220+5979G>C (n.*220+5979G>C) c.595G>C (p.Asp199His) c.622G>C (p.Asp208His) c.1477G>C (p.Asp493His) c.1291G>C (p.Asp431His) c.1210G>C (p.Asp404His) c.916G>C (p.Asp306His) c.1297G>C (p.Asp433His) | |
2 | g.48688245C>T | CA346746325 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1552G>A (p.Asp518Asn) c.948-106G>A (n.948-106G>A) c.3441+16565C>T (n.3441+16565C>T) c.*296G>A (n.*296G>A) c.1471G>A (p.Asp491Asn) c.276+16565C>T (n.276+16565C>T) c.*220+5979G>A (n.*220+5979G>A) c.595G>A (p.Asp199Asn) c.622G>A (p.Asp208Asn) c.1477G>A (p.Asp493Asn) c.1291G>A (p.Asp431Asn) c.1210G>A (p.Asp404Asn) c.916G>A (p.Asp306Asn) c.1297G>A (p.Asp433Asn) | |
2 | g.48688246C>A | CA346746327 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1551G>T (p.Met517Ile) c.948-107G>T (n.948-107G>T) c.3441+16566C>A (n.3441+16566C>A) c.*295G>T (n.*295G>T) c.1470G>T (p.Met490Ile) c.276+16566C>A (n.276+16566C>A) c.*220+5978G>T (n.*220+5978G>T) c.594G>T (p.Met198Ile) c.621G>T (p.Met207Ile) c.1476G>T (p.Met492Ile) c.1290G>T (p.Met430Ile) c.1209G>T (p.Met403Ile) c.915G>T (p.Met305Ile) c.1296G>T (p.Met432Ile) | |
2 | g.48688246C>G | CA346746329 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1551G>C (p.Met517Ile) c.948-107G>C (n.948-107G>C) c.3441+16566C>G (n.3441+16566C>G) c.*295G>C (n.*295G>C) c.1470G>C (p.Met490Ile) c.276+16566C>G (n.276+16566C>G) c.*220+5978G>C (n.*220+5978G>C) c.594G>C (p.Met198Ile) c.621G>C (p.Met207Ile) c.1476G>C (p.Met492Ile) c.1290G>C (p.Met430Ile) c.1209G>C (p.Met403Ile) c.915G>C (p.Met305Ile) c.1296G>C (p.Met432Ile) | |
2 | g.48688246C>T | CA346746336 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1551G>A (p.Met517Ile) c.948-107G>A (n.948-107G>A) c.3441+16566C>T (n.3441+16566C>T) c.*295G>A (n.*295G>A) c.1470G>A (p.Met490Ile) c.276+16566C>T (n.276+16566C>T) c.*220+5978G>A (n.*220+5978G>A) c.594G>A (p.Met198Ile) c.621G>A (p.Met207Ile) c.1476G>A (p.Met492Ile) c.1290G>A (p.Met430Ile) c.1209G>A (p.Met403Ile) c.915G>A (p.Met305Ile) c.1296G>A (p.Met432Ile) | gnomAD v4 |
2 | g.48688247A= | CA1248601049 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1550T= (p.Met517=) c.948-108T= (n.948-108T=) c.3441+16567A= (n.3441+16567A=) c.*294T= (n.*294T=) c.1469T= (p.Met490=) c.276+16567A= (n.276+16567A=) c.*220+5977T= (n.*220+5977T=) c.593T= (p.Met198=) c.620T= (p.Met207=) c.1475T= (p.Met492=) c.1289T= (p.Met430=) c.1208T= (p.Met403=) c.914T= (p.Met305=) c.1295T= (p.Met432=) | |
2 | g.48688247A>C | CA346746339 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1550T>G (p.Met517Arg) c.948-108T>G (n.948-108T>G) c.3441+16567A>C (n.3441+16567A>C) c.*294T>G (n.*294T>G) c.1469T>G (p.Met490Arg) c.276+16567A>C (n.276+16567A>C) c.*220+5977T>G (n.*220+5977T>G) c.593T>G (p.Met198Arg) c.620T>G (p.Met207Arg) c.1475T>G (p.Met492Arg) c.1289T>G (p.Met430Arg) c.1208T>G (p.Met403Arg) c.914T>G (p.Met305Arg) c.1295T>G (p.Met432Arg) | |
2 | g.48688247A>G | CA346746342 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1550T>C (p.Met517Thr) c.948-108T>C (n.948-108T>C) c.3441+16567A>G (n.3441+16567A>G) c.*294T>C (n.*294T>C) c.1469T>C (p.Met490Thr) c.276+16567A>G (n.276+16567A>G) c.*220+5977T>C (n.*220+5977T>C) c.593T>C (p.Met198Thr) c.620T>C (p.Met207Thr) c.1475T>C (p.Met492Thr) c.1289T>C (p.Met430Thr) c.1208T>C (p.Met403Thr) c.914T>C (p.Met305Thr) c.1295T>C (p.Met432Thr) | dbSNP |
2 | g.48688247A>T | CA346746343 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1550T>A (p.Met517Lys) c.948-108T>A (n.948-108T>A) c.3441+16567A>T (n.3441+16567A>T) c.*294T>A (n.*294T>A) c.1469T>A (p.Met490Lys) c.276+16567A>T (n.276+16567A>T) c.*220+5977T>A (n.*220+5977T>A) c.593T>A (p.Met198Lys) c.620T>A (p.Met207Lys) c.1475T>A (p.Met492Lys) c.1289T>A (p.Met430Lys) c.1208T>A (p.Met403Lys) c.914T>A (p.Met305Lys) c.1295T>A (p.Met432Lys) | |
2 | g.48688248T>A | CA346746349 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1549A>T (p.Met517Leu) c.948-109A>T (n.948-109A>T) c.3441+16568T>A (n.3441+16568T>A) c.*293A>T (n.*293A>T) c.1468A>T (p.Met490Leu) c.276+16568T>A (n.276+16568T>A) c.*220+5976A>T (n.*220+5976A>T) c.592A>T (p.Met198Leu) c.619A>T (p.Met207Leu) c.1474A>T (p.Met492Leu) c.1288A>T (p.Met430Leu) c.1207A>T (p.Met403Leu) c.913A>T (p.Met305Leu) c.1294A>T (p.Met432Leu) | |
2 | g.48688248T>C | CA346746352 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1549A>G (p.Met517Val) c.948-109A>G (n.948-109A>G) c.3441+16568T>C (n.3441+16568T>C) c.*293A>G (n.*293A>G) c.1468A>G (p.Met490Val) c.276+16568T>C (n.276+16568T>C) c.*220+5976A>G (n.*220+5976A>G) c.592A>G (p.Met198Val) c.619A>G (p.Met207Val) c.1474A>G (p.Met492Val) c.1288A>G (p.Met430Val) c.1207A>G (p.Met403Val) c.913A>G (p.Met305Val) c.1294A>G (p.Met432Val) | gnomAD v4 |
2 | g.48688248T>G | CA346746347 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1549A>C (p.Met517Leu) c.948-109A>C (n.948-109A>C) c.3441+16568T>G (n.3441+16568T>G) c.*293A>C (n.*293A>C) c.1468A>C (p.Met490Leu) c.276+16568T>G (n.276+16568T>G) c.*220+5976A>C (n.*220+5976A>C) c.592A>C (p.Met198Leu) c.619A>C (p.Met207Leu) c.1474A>C (p.Met492Leu) c.1288A>C (p.Met430Leu) c.1207A>C (p.Met403Leu) c.913A>C (p.Met305Leu) c.1294A>C (p.Met432Leu) | |
2 | g.48688249G>A | CA426125452 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1548C>T (p.Pro516=) c.948-110C>T (n.948-110C>T) c.3441+16569G>A (n.3441+16569G>A) c.*292C>T (n.*292C>T) c.1467C>T (p.Pro489=) c.276+16569G>A (n.276+16569G>A) c.*220+5975C>T (n.*220+5975C>T) c.591C>T (p.Pro197=) c.618C>T (p.Pro206=) c.1473C>T (p.Pro491=) c.1287C>T (p.Pro429=) c.1206C>T (p.Pro402=) c.912C>T (p.Pro304=) c.1293C>T (p.Pro431=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688249G>C | CA426125461 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1548C>G (p.Pro516=) c.948-110C>G (n.948-110C>G) c.3441+16569G>C (n.3441+16569G>C) c.*292C>G (n.*292C>G) c.1467C>G (p.Pro489=) c.276+16569G>C (n.276+16569G>C) c.*220+5975C>G (n.*220+5975C>G) c.591C>G (p.Pro197=) c.618C>G (p.Pro206=) c.1473C>G (p.Pro491=) c.1287C>G (p.Pro429=) c.1206C>G (p.Pro402=) c.912C>G (p.Pro304=) c.1293C>G (p.Pro431=) | |
2 | g.48688249G= | CA1248601050 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1548C= (p.Pro516=) c.948-110C= (n.948-110C=) c.3441+16569G= (n.3441+16569G=) c.*292C= (n.*292C=) c.1467C= (p.Pro489=) c.276+16569G= (n.276+16569G=) c.*220+5975C= (n.*220+5975C=) c.591C= (p.Pro197=) c.618C= (p.Pro206=) c.1473C= (p.Pro491=) c.1287C= (p.Pro429=) c.1206C= (p.Pro402=) c.912C= (p.Pro304=) c.1293C= (p.Pro431=) | |
2 | g.48688249G>T | CA426125454 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1548C>A (p.Pro516=) c.948-110C>A (n.948-110C>A) c.3441+16569G>T (n.3441+16569G>T) c.*292C>A (n.*292C>A) c.1467C>A (p.Pro489=) c.276+16569G>T (n.276+16569G>T) c.*220+5975C>A (n.*220+5975C>A) c.591C>A (p.Pro197=) c.618C>A (p.Pro206=) c.1473C>A (p.Pro491=) c.1287C>A (p.Pro429=) c.1206C>A (p.Pro402=) c.912C>A (p.Pro304=) c.1293C>A (p.Pro431=) | |
2 | g.48688250G>A | CA346746356 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1547C>T (p.Pro516Leu) c.948-111C>T (n.948-111C>T) c.3441+16570G>A (n.3441+16570G>A) c.*291C>T (n.*291C>T) c.1466C>T (p.Pro489Leu) c.276+16570G>A (n.276+16570G>A) c.*220+5974C>T (n.*220+5974C>T) c.590C>T (p.Pro197Leu) c.617C>T (p.Pro206Leu) c.1472C>T (p.Pro491Leu) c.1286C>T (p.Pro429Leu) c.1205C>T (p.Pro402Leu) c.911C>T (p.Pro304Leu) c.1292C>T (p.Pro431Leu) | gnomAD v4 |
2 | g.48688250G>C | CA346746358 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1547C>G (p.Pro516Arg) c.948-111C>G (n.948-111C>G) c.3441+16570G>C (n.3441+16570G>C) c.*291C>G (n.*291C>G) c.1466C>G (p.Pro489Arg) c.276+16570G>C (n.276+16570G>C) c.*220+5974C>G (n.*220+5974C>G) c.590C>G (p.Pro197Arg) c.617C>G (p.Pro206Arg) c.1472C>G (p.Pro491Arg) c.1286C>G (p.Pro429Arg) c.1205C>G (p.Pro402Arg) c.911C>G (p.Pro304Arg) c.1292C>G (p.Pro431Arg) | gnomAD v4 |
2 | g.48688250G>T | CA346746360 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1547C>A (p.Pro516His) c.948-111C>A (n.948-111C>A) c.3441+16570G>T (n.3441+16570G>T) c.*291C>A (n.*291C>A) c.1466C>A (p.Pro489His) c.276+16570G>T (n.276+16570G>T) c.*220+5974C>A (n.*220+5974C>A) c.590C>A (p.Pro197His) c.617C>A (p.Pro206His) c.1472C>A (p.Pro491His) c.1286C>A (p.Pro429His) c.1205C>A (p.Pro402His) c.911C>A (p.Pro304His) c.1292C>A (p.Pro431His) | |
2 | g.48688251G>A | CA346746362 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1546C>T (p.Pro516Ser) c.948-112C>T (n.948-112C>T) c.3441+16571G>A (n.3441+16571G>A) c.*290C>T (n.*290C>T) c.1465C>T (p.Pro489Ser) c.276+16571G>A (n.276+16571G>A) c.*220+5973C>T (n.*220+5973C>T) c.589C>T (p.Pro197Ser) c.616C>T (p.Pro206Ser) c.1471C>T (p.Pro491Ser) c.1285C>T (p.Pro429Ser) c.1204C>T (p.Pro402Ser) c.910C>T (p.Pro304Ser) c.1291C>T (p.Pro431Ser) | gnomAD v4 |
2 | g.48688251G>C | CA346746364 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1546C>G (p.Pro516Ala) c.948-112C>G (n.948-112C>G) c.3441+16571G>C (n.3441+16571G>C) c.*290C>G (n.*290C>G) c.1465C>G (p.Pro489Ala) c.276+16571G>C (n.276+16571G>C) c.*220+5973C>G (n.*220+5973C>G) c.589C>G (p.Pro197Ala) c.616C>G (p.Pro206Ala) c.1471C>G (p.Pro491Ala) c.1285C>G (p.Pro429Ala) c.1204C>G (p.Pro402Ala) c.910C>G (p.Pro304Ala) c.1291C>G (p.Pro431Ala) | |
2 | g.48688251G>T | CA346746367 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1546C>A (p.Pro516Thr) c.948-112C>A (n.948-112C>A) c.3441+16571G>T (n.3441+16571G>T) c.*290C>A (n.*290C>A) c.1465C>A (p.Pro489Thr) c.276+16571G>T (n.276+16571G>T) c.*220+5973C>A (n.*220+5973C>A) c.589C>A (p.Pro197Thr) c.616C>A (p.Pro206Thr) c.1471C>A (p.Pro491Thr) c.1285C>A (p.Pro429Thr) c.1204C>A (p.Pro402Thr) c.910C>A (p.Pro304Thr) c.1291C>A (p.Pro431Thr) | |
2 | g.48688252G>A | CA426125467 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1545C>T (p.Phe515=) c.948-113C>T (n.948-113C>T) c.3441+16572G>A (n.3441+16572G>A) c.*289C>T (n.*289C>T) c.1464C>T (p.Phe488=) c.276+16572G>A (n.276+16572G>A) c.*220+5972C>T (n.*220+5972C>T) c.588C>T (p.Phe196=) c.615C>T (p.Phe205=) c.1470C>T (p.Phe490=) c.1284C>T (p.Phe428=) c.1203C>T (p.Phe401=) c.909C>T (p.Phe303=) c.1290C>T (p.Phe430=) | |
2 | g.48688252G>C | CA346746371 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1545C>G (p.Phe515Leu) c.948-113C>G (n.948-113C>G) c.3441+16572G>C (n.3441+16572G>C) c.*289C>G (n.*289C>G) c.1464C>G (p.Phe488Leu) c.276+16572G>C (n.276+16572G>C) c.*220+5972C>G (n.*220+5972C>G) c.588C>G (p.Phe196Leu) c.615C>G (p.Phe205Leu) c.1470C>G (p.Phe490Leu) c.1284C>G (p.Phe428Leu) c.1203C>G (p.Phe401Leu) c.909C>G (p.Phe303Leu) c.1290C>G (p.Phe430Leu) | |
2 | g.48688252G>T | CA346746372 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1545C>A (p.Phe515Leu) c.948-113C>A (n.948-113C>A) c.3441+16572G>T (n.3441+16572G>T) c.*289C>A (n.*289C>A) c.1464C>A (p.Phe488Leu) c.276+16572G>T (n.276+16572G>T) c.*220+5972C>A (n.*220+5972C>A) c.588C>A (p.Phe196Leu) c.615C>A (p.Phe205Leu) c.1470C>A (p.Phe490Leu) c.1284C>A (p.Phe428Leu) c.1203C>A (p.Phe401Leu) c.909C>A (p.Phe303Leu) c.1290C>A (p.Phe430Leu) | |
2 | g.48688253A>C | CA346746375 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1544T>G (p.Phe515Cys) c.948-114T>G (n.948-114T>G) c.3441+16573A>C (n.3441+16573A>C) c.*288T>G (n.*288T>G) c.1463T>G (p.Phe488Cys) c.276+16573A>C (n.276+16573A>C) c.*220+5971T>G (n.*220+5971T>G) c.587T>G (p.Phe196Cys) c.614T>G (p.Phe205Cys) c.1469T>G (p.Phe490Cys) c.1283T>G (p.Phe428Cys) c.1202T>G (p.Phe401Cys) c.908T>G (p.Phe303Cys) c.1289T>G (p.Phe430Cys) | |
2 | g.48688253A>G | CA346746376 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1544T>C (p.Phe515Ser) c.948-114T>C (n.948-114T>C) c.3441+16573A>G (n.3441+16573A>G) c.*288T>C (n.*288T>C) c.1463T>C (p.Phe488Ser) c.276+16573A>G (n.276+16573A>G) c.*220+5971T>C (n.*220+5971T>C) c.587T>C (p.Phe196Ser) c.614T>C (p.Phe205Ser) c.1469T>C (p.Phe490Ser) c.1283T>C (p.Phe428Ser) c.1202T>C (p.Phe401Ser) c.908T>C (p.Phe303Ser) c.1289T>C (p.Phe430Ser) | gnomAD v4 |
2 | g.48688253A>T | CA346746377 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1544T>A (p.Phe515Tyr) c.948-114T>A (n.948-114T>A) c.3441+16573A>T (n.3441+16573A>T) c.*288T>A (n.*288T>A) c.1463T>A (p.Phe488Tyr) c.276+16573A>T (n.276+16573A>T) c.*220+5971T>A (n.*220+5971T>A) c.587T>A (p.Phe196Tyr) c.614T>A (p.Phe205Tyr) c.1469T>A (p.Phe490Tyr) c.1283T>A (p.Phe428Tyr) c.1202T>A (p.Phe401Tyr) c.908T>A (p.Phe303Tyr) c.1289T>A (p.Phe430Tyr) | gnomAD v4 |
2 | g.48688254A>C | CA346746379 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1543T>G (p.Phe515Val) c.948-115T>G (n.948-115T>G) c.3441+16574A>C (n.3441+16574A>C) c.*287T>G (n.*287T>G) c.1462T>G (p.Phe488Val) c.276+16574A>C (n.276+16574A>C) c.*220+5970T>G (n.*220+5970T>G) c.586T>G (p.Phe196Val) c.613T>G (p.Phe205Val) c.1468T>G (p.Phe490Val) c.1282T>G (p.Phe428Val) c.1201T>G (p.Phe401Val) c.907T>G (p.Phe303Val) c.1288T>G (p.Phe430Val) | |
2 | g.48688254A>G | CA346746380 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1543T>C (p.Phe515Leu) c.948-115T>C (n.948-115T>C) c.3441+16574A>G (n.3441+16574A>G) c.*287T>C (n.*287T>C) c.1462T>C (p.Phe488Leu) c.276+16574A>G (n.276+16574A>G) c.*220+5970T>C (n.*220+5970T>C) c.586T>C (p.Phe196Leu) c.613T>C (p.Phe205Leu) c.1468T>C (p.Phe490Leu) c.1282T>C (p.Phe428Leu) c.1201T>C (p.Phe401Leu) c.907T>C (p.Phe303Leu) c.1288T>C (p.Phe430Leu) | |
2 | g.48688254A>T | CA346746388 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1543T>A (p.Phe515Ile) c.948-115T>A (n.948-115T>A) c.3441+16574A>T (n.3441+16574A>T) c.*287T>A (n.*287T>A) c.1462T>A (p.Phe488Ile) c.276+16574A>T (n.276+16574A>T) c.*220+5970T>A (n.*220+5970T>A) c.586T>A (p.Phe196Ile) c.613T>A (p.Phe205Ile) c.1468T>A (p.Phe490Ile) c.1282T>A (p.Phe428Ile) c.1201T>A (p.Phe401Ile) c.907T>A (p.Phe303Ile) c.1288T>A (p.Phe430Ile) | |
2 | g.48688255G>A | CA426125478 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1542C>T (p.Cys514=) c.948-116C>T (n.948-116C>T) c.3441+16575G>A (n.3441+16575G>A) c.*286C>T (n.*286C>T) c.1461C>T (p.Cys487=) c.276+16575G>A (n.276+16575G>A) c.*220+5969C>T (n.*220+5969C>T) c.585C>T (p.Cys195=) c.612C>T (p.Cys204=) c.1467C>T (p.Cys489=) c.1281C>T (p.Cys427=) c.1200C>T (p.Cys400=) c.906C>T (p.Cys302=) c.1287C>T (p.Cys429=) | dbSNP COSMIC |
2 | g.48688255G>C | CA346746395 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1542C>G (p.Cys514Trp) c.948-116C>G (n.948-116C>G) c.3441+16575G>C (n.3441+16575G>C) c.*286C>G (n.*286C>G) c.1461C>G (p.Cys487Trp) c.276+16575G>C (n.276+16575G>C) c.*220+5969C>G (n.*220+5969C>G) c.585C>G (p.Cys195Trp) c.612C>G (p.Cys204Trp) c.1467C>G (p.Cys489Trp) c.1281C>G (p.Cys427Trp) c.1200C>G (p.Cys400Trp) c.906C>G (p.Cys302Trp) c.1287C>G (p.Cys429Trp) | |
2 | g.48688255G= | CA1248601051 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1542C= (p.Cys514=) c.948-116C= (n.948-116C=) c.3441+16575G= (n.3441+16575G=) c.*286C= (n.*286C=) c.1461C= (p.Cys487=) c.276+16575G= (n.276+16575G=) c.*220+5969C= (n.*220+5969C=) c.585C= (p.Cys195=) c.612C= (p.Cys204=) c.1467C= (p.Cys489=) c.1281C= (p.Cys427=) c.1200C= (p.Cys400=) c.906C= (p.Cys302=) c.1287C= (p.Cys429=) | |
2 | g.48688255G>T | CA346746392 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1542C>A (p.Cys514Ter) c.948-116C>A (n.948-116C>A) c.3441+16575G>T (n.3441+16575G>T) c.*286C>A (n.*286C>A) c.1461C>A (p.Cys487Ter) c.276+16575G>T (n.276+16575G>T) c.*220+5969C>A (n.*220+5969C>A) c.585C>A (p.Cys195Ter) c.612C>A (p.Cys204Ter) c.1467C>A (p.Cys489Ter) c.1281C>A (p.Cys427Ter) c.1200C>A (p.Cys400Ter) c.906C>A (p.Cys302Ter) c.1287C>A (p.Cys429Ter) | |
2 | g.48688256C>A | CA346746402 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1541G>T (p.Cys514Phe) c.948-117G>T (n.948-117G>T) c.3441+16576C>A (n.3441+16576C>A) c.*285G>T (n.*285G>T) c.1460G>T (p.Cys487Phe) c.276+16576C>A (n.276+16576C>A) c.*220+5968G>T (n.*220+5968G>T) c.584G>T (p.Cys195Phe) c.611G>T (p.Cys204Phe) c.1466G>T (p.Cys489Phe) c.1280G>T (p.Cys427Phe) c.1199G>T (p.Cys400Phe) c.905G>T (p.Cys302Phe) c.1286G>T (p.Cys429Phe) | |
2 | g.48688256C>G | CA346746408 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1541G>C (p.Cys514Ser) c.948-117G>C (n.948-117G>C) c.3441+16576C>G (n.3441+16576C>G) c.*285G>C (n.*285G>C) c.1460G>C (p.Cys487Ser) c.276+16576C>G (n.276+16576C>G) c.*220+5968G>C (n.*220+5968G>C) c.584G>C (p.Cys195Ser) c.611G>C (p.Cys204Ser) c.1466G>C (p.Cys489Ser) c.1280G>C (p.Cys427Ser) c.1199G>C (p.Cys400Ser) c.905G>C (p.Cys302Ser) c.1286G>C (p.Cys429Ser) | gnomAD v4 |
2 | g.48688256C>T | CA346746404 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1541G>A (p.Cys514Tyr) c.948-117G>A (n.948-117G>A) c.3441+16576C>T (n.3441+16576C>T) c.*285G>A (n.*285G>A) c.1460G>A (p.Cys487Tyr) c.276+16576C>T (n.276+16576C>T) c.*220+5968G>A (n.*220+5968G>A) c.584G>A (p.Cys195Tyr) c.611G>A (p.Cys204Tyr) c.1466G>A (p.Cys489Tyr) c.1280G>A (p.Cys427Tyr) c.1199G>A (p.Cys400Tyr) c.905G>A (p.Cys302Tyr) c.1286G>A (p.Cys429Tyr) | |
2 | g.48688257A>C | CA346746412 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1540T>G (p.Cys514Gly) c.948-118T>G (n.948-118T>G) c.3441+16577A>C (n.3441+16577A>C) c.*284T>G (n.*284T>G) c.1459T>G (p.Cys487Gly) c.276+16577A>C (n.276+16577A>C) c.*220+5967T>G (n.*220+5967T>G) c.583T>G (p.Cys195Gly) c.610T>G (p.Cys204Gly) c.1465T>G (p.Cys489Gly) c.1279T>G (p.Cys427Gly) c.1198T>G (p.Cys400Gly) c.904T>G (p.Cys302Gly) c.1285T>G (p.Cys429Gly) | gnomAD v4 |
2 | g.48688257A>G | CA346746416 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1540T>C (p.Cys514Arg) c.948-118T>C (n.948-118T>C) c.3441+16577A>G (n.3441+16577A>G) c.*284T>C (n.*284T>C) c.1459T>C (p.Cys487Arg) c.276+16577A>G (n.276+16577A>G) c.*220+5967T>C (n.*220+5967T>C) c.583T>C (p.Cys195Arg) c.610T>C (p.Cys204Arg) c.1465T>C (p.Cys489Arg) c.1279T>C (p.Cys427Arg) c.1198T>C (p.Cys400Arg) c.904T>C (p.Cys302Arg) c.1285T>C (p.Cys429Arg) | |
2 | g.48688257A>T | CA346746418 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1540T>A (p.Cys514Ser) c.948-118T>A (n.948-118T>A) c.3441+16577A>T (n.3441+16577A>T) c.*284T>A (n.*284T>A) c.1459T>A (p.Cys487Ser) c.276+16577A>T (n.276+16577A>T) c.*220+5967T>A (n.*220+5967T>A) c.583T>A (p.Cys195Ser) c.610T>A (p.Cys204Ser) c.1465T>A (p.Cys489Ser) c.1279T>A (p.Cys427Ser) c.1198T>A (p.Cys400Ser) c.904T>A (p.Cys302Ser) c.1285T>A (p.Cys429Ser) | |
2 | g.48688258A>C | CA346746421 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1539T>G (p.Ile513Met) c.948-119T>G (n.948-119T>G) c.3441+16578A>C (n.3441+16578A>C) c.*283T>G (n.*283T>G) c.1458T>G (p.Ile486Met) c.276+16578A>C (n.276+16578A>C) c.*220+5966T>G (n.*220+5966T>G) c.582T>G (p.Ile194Met) c.609T>G (p.Ile203Met) c.1464T>G (p.Ile488Met) c.1278T>G (p.Ile426Met) c.1197T>G (p.Ile399Met) c.903T>G (p.Ile301Met) c.1284T>G (p.Ile428Met) | |
2 | g.48688258A>G | CA426125497 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1539T>C (p.Ile513=) c.948-119T>C (n.948-119T>C) c.3441+16578A>G (n.3441+16578A>G) c.*283T>C (n.*283T>C) c.1458T>C (p.Ile486=) c.276+16578A>G (n.276+16578A>G) c.*220+5966T>C (n.*220+5966T>C) c.582T>C (p.Ile194=) c.609T>C (p.Ile203=) c.1464T>C (p.Ile488=) c.1278T>C (p.Ile426=) c.1197T>C (p.Ile399=) c.903T>C (p.Ile301=) c.1284T>C (p.Ile428=) | |
2 | g.48688258A>T | CA426125492 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1539T>A (p.Ile513=) c.948-119T>A (n.948-119T>A) c.3441+16578A>T (n.3441+16578A>T) c.*283T>A (n.*283T>A) c.1458T>A (p.Ile486=) c.276+16578A>T (n.276+16578A>T) c.*220+5966T>A (n.*220+5966T>A) c.582T>A (p.Ile194=) c.609T>A (p.Ile203=) c.1464T>A (p.Ile488=) c.1278T>A (p.Ile426=) c.1197T>A (p.Ile399=) c.903T>A (p.Ile301=) c.1284T>A (p.Ile428=) | gnomAD v4 |
2 | g.48688258_48688259insT | CA2749836836 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1538_1539insA (p.Cys514LeufsTer?) c.948-120_948-119insA (n.948-120_948-119insA) c.3441+16578_3441+16579insT (n.3441+16578_3441+16579insT) c.*282_*283insA (n.*282_*283insA) c.1457_1458insA (p.Cys487LeufsTer?) c.276+16578_276+16579insT (n.276+16578_276+16579insT) c.*220+5965_*220+5966insA (n.*220+5965_*220+5966insA) c.581_582insA (p.Cys195LeufsTer?) c.608_609insA (p.Cys204LeufsTer?) c.1463_1464insA (p.Cys489LeufsTer?) c.1277_1278insA (p.Cys427LeufsTer?) c.1196_1197insA (p.Cys400LeufsTer?) c.902_903insA (p.Cys302LeufsTer?) c.1283_1284insA (p.Cys429LeufsTer?) | |
2 | g.48688259A>C | CA346746423 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1538T>G (p.Ile513Ser) c.948-120T>G (n.948-120T>G) c.3441+16579A>C (n.3441+16579A>C) c.*282T>G (n.*282T>G) c.1457T>G (p.Ile486Ser) c.276+16579A>C (n.276+16579A>C) c.*220+5965T>G (n.*220+5965T>G) c.581T>G (p.Ile194Ser) c.608T>G (p.Ile203Ser) c.1463T>G (p.Ile488Ser) c.1277T>G (p.Ile426Ser) c.1196T>G (p.Ile399Ser) c.902T>G (p.Ile301Ser) c.1283T>G (p.Ile428Ser) | |
2 | g.48688259A>G | CA346746424 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1538T>C (p.Ile513Thr) c.948-120T>C (n.948-120T>C) c.3441+16579A>G (n.3441+16579A>G) c.*282T>C (n.*282T>C) c.1457T>C (p.Ile486Thr) c.276+16579A>G (n.276+16579A>G) c.*220+5965T>C (n.*220+5965T>C) c.581T>C (p.Ile194Thr) c.608T>C (p.Ile203Thr) c.1463T>C (p.Ile488Thr) c.1277T>C (p.Ile426Thr) c.1196T>C (p.Ile399Thr) c.902T>C (p.Ile301Thr) c.1283T>C (p.Ile428Thr) | |
2 | g.48688259A>T | CA346746425 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1538T>A (p.Ile513Asn) c.948-120T>A (n.948-120T>A) c.3441+16579A>T (n.3441+16579A>T) c.*282T>A (n.*282T>A) c.1457T>A (p.Ile486Asn) c.276+16579A>T (n.276+16579A>T) c.*220+5965T>A (n.*220+5965T>A) c.581T>A (p.Ile194Asn) c.608T>A (p.Ile203Asn) c.1463T>A (p.Ile488Asn) c.1277T>A (p.Ile426Asn) c.1196T>A (p.Ile399Asn) c.902T>A (p.Ile301Asn) c.1283T>A (p.Ile428Asn) | gnomAD v4 |
2 | g.48688260T>A | CA346746426 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1537A>T (p.Ile513Phe) c.948-121A>T (n.948-121A>T) c.3441+16580T>A (n.3441+16580T>A) c.*281A>T (n.*281A>T) c.1456A>T (p.Ile486Phe) c.276+16580T>A (n.276+16580T>A) c.*220+5964A>T (n.*220+5964A>T) c.580A>T (p.Ile194Phe) c.607A>T (p.Ile203Phe) c.1462A>T (p.Ile488Phe) c.1276A>T (p.Ile426Phe) c.1195A>T (p.Ile399Phe) c.901A>T (p.Ile301Phe) c.1282A>T (p.Ile428Phe) | |
2 | g.48688260T>C | CA346746427 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1537A>G (p.Ile513Val) c.948-121A>G (n.948-121A>G) c.3441+16580T>C (n.3441+16580T>C) c.*281A>G (n.*281A>G) c.1456A>G (p.Ile486Val) c.276+16580T>C (n.276+16580T>C) c.*220+5964A>G (n.*220+5964A>G) c.580A>G (p.Ile194Val) c.607A>G (p.Ile203Val) c.1462A>G (p.Ile488Val) c.1276A>G (p.Ile426Val) c.1195A>G (p.Ile399Val) c.901A>G (p.Ile301Val) c.1282A>G (p.Ile428Val) | |
2 | g.48688260T>G | CA346746430 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1537A>C (p.Ile513Leu) c.948-121A>C (n.948-121A>C) c.3441+16580T>G (n.3441+16580T>G) c.*281A>C (n.*281A>C) c.1456A>C (p.Ile486Leu) c.276+16580T>G (n.276+16580T>G) c.*220+5964A>C (n.*220+5964A>C) c.580A>C (p.Ile194Leu) c.607A>C (p.Ile203Leu) c.1462A>C (p.Ile488Leu) c.1276A>C (p.Ile426Leu) c.1195A>C (p.Ile399Leu) c.901A>C (p.Ile301Leu) c.1282A>C (p.Ile428Leu) | |
2 | g.48688261A= | CA1248601052 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1536T= (p.Ser512=) c.948-122T= (n.948-122T=) c.3441+16581A= (n.3441+16581A=) c.*280T= (n.*280T=) c.1455T= (p.Ser485=) c.276+16581A= (n.276+16581A=) c.*220+5963T= (n.*220+5963T=) c.579T= (p.Ser193=) c.606T= (p.Ser202=) c.1461T= (p.Ser487=) c.1275T= (p.Ser425=) c.1194T= (p.Ser398=) c.900T= (p.Ser300=) c.1281T= (p.Ser427=) | |
2 | g.48688261A>C | CA346746432 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1536T>G (p.Ser512Arg) c.948-122T>G (n.948-122T>G) c.3441+16581A>C (n.3441+16581A>C) c.*280T>G (n.*280T>G) c.1455T>G (p.Ser485Arg) c.276+16581A>C (n.276+16581A>C) c.*220+5963T>G (n.*220+5963T>G) c.579T>G (p.Ser193Arg) c.606T>G (p.Ser202Arg) c.1461T>G (p.Ser487Arg) c.1275T>G (p.Ser425Arg) c.1194T>G (p.Ser398Arg) c.900T>G (p.Ser300Arg) c.1281T>G (p.Ser427Arg) | |
2 | g.48688261A>G | CA1653019 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1536T>C (p.Ser512=) c.948-122T>C (n.948-122T>C) c.3441+16581A>G (n.3441+16581A>G) c.*280T>C (n.*280T>C) c.1455T>C (p.Ser485=) c.276+16581A>G (n.276+16581A>G) c.*220+5963T>C (n.*220+5963T>C) c.579T>C (p.Ser193=) c.606T>C (p.Ser202=) c.1461T>C (p.Ser487=) c.1275T>C (p.Ser425=) c.1194T>C (p.Ser398=) c.900T>C (p.Ser300=) c.1281T>C (p.Ser427=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48688261A>T | CA346746435 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1536T>A (p.Ser512Arg) c.948-122T>A (n.948-122T>A) c.3441+16581A>T (n.3441+16581A>T) c.*280T>A (n.*280T>A) c.1455T>A (p.Ser485Arg) c.276+16581A>T (n.276+16581A>T) c.*220+5963T>A (n.*220+5963T>A) c.579T>A (p.Ser193Arg) c.606T>A (p.Ser202Arg) c.1461T>A (p.Ser487Arg) c.1275T>A (p.Ser425Arg) c.1194T>A (p.Ser398Arg) c.900T>A (p.Ser300Arg) c.1281T>A (p.Ser427Arg) | |
2 | g.48688262C>A | CA346746441 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1535G>T (p.Ser512Ile) c.948-123G>T (n.948-123G>T) c.3441+16582C>A (n.3441+16582C>A) c.*279G>T (n.*279G>T) c.1454G>T (p.Ser485Ile) c.276+16582C>A (n.276+16582C>A) c.*220+5962G>T (n.*220+5962G>T) c.578G>T (p.Ser193Ile) c.605G>T (p.Ser202Ile) c.1460G>T (p.Ser487Ile) c.1274G>T (p.Ser425Ile) c.1193G>T (p.Ser398Ile) c.899G>T (p.Ser300Ile) c.1280G>T (p.Ser427Ile) | |
2 | g.48688262C>G | CA346746437 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1535G>C (p.Ser512Thr) c.948-123G>C (n.948-123G>C) c.3441+16582C>G (n.3441+16582C>G) c.*279G>C (n.*279G>C) c.1454G>C (p.Ser485Thr) c.276+16582C>G (n.276+16582C>G) c.*220+5962G>C (n.*220+5962G>C) c.578G>C (p.Ser193Thr) c.605G>C (p.Ser202Thr) c.1460G>C (p.Ser487Thr) c.1274G>C (p.Ser425Thr) c.1193G>C (p.Ser398Thr) c.899G>C (p.Ser300Thr) c.1280G>C (p.Ser427Thr) | |
2 | g.48688262C>T | CA346746439 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1535G>A (p.Ser512Asn) c.948-123G>A (n.948-123G>A) c.3441+16582C>T (n.3441+16582C>T) c.*279G>A (n.*279G>A) c.1454G>A (p.Ser485Asn) c.276+16582C>T (n.276+16582C>T) c.*220+5962G>A (n.*220+5962G>A) c.578G>A (p.Ser193Asn) c.605G>A (p.Ser202Asn) c.1460G>A (p.Ser487Asn) c.1274G>A (p.Ser425Asn) c.1193G>A (p.Ser398Asn) c.899G>A (p.Ser300Asn) c.1280G>A (p.Ser427Asn) | |
2 | g.48688263T>A | CA346746445 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1534A>T (p.Ser512Cys) c.948-124A>T (n.948-124A>T) c.3441+16583T>A (n.3441+16583T>A) c.*278A>T (n.*278A>T) c.1453A>T (p.Ser485Cys) c.276+16583T>A (n.276+16583T>A) c.*220+5961A>T (n.*220+5961A>T) c.577A>T (p.Ser193Cys) c.604A>T (p.Ser202Cys) c.1459A>T (p.Ser487Cys) c.1273A>T (p.Ser425Cys) c.1192A>T (p.Ser398Cys) c.898A>T (p.Ser300Cys) c.1279A>T (p.Ser427Cys) | COSMIC |
2 | g.48688263T>C | CA346746446 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1534A>G (p.Ser512Gly) c.948-124A>G (n.948-124A>G) c.3441+16583T>C (n.3441+16583T>C) c.*278A>G (n.*278A>G) c.1453A>G (p.Ser485Gly) c.276+16583T>C (n.276+16583T>C) c.*220+5961A>G (n.*220+5961A>G) c.577A>G (p.Ser193Gly) c.604A>G (p.Ser202Gly) c.1459A>G (p.Ser487Gly) c.1273A>G (p.Ser425Gly) c.1192A>G (p.Ser398Gly) c.898A>G (p.Ser300Gly) c.1279A>G (p.Ser427Gly) | |
2 | g.48688263T>G | CA346746450 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1534A>C (p.Ser512Arg) c.948-124A>C (n.948-124A>C) c.3441+16583T>G (n.3441+16583T>G) c.*278A>C (n.*278A>C) c.1453A>C (p.Ser485Arg) c.276+16583T>G (n.276+16583T>G) c.*220+5961A>C (n.*220+5961A>C) c.577A>C (p.Ser193Arg) c.604A>C (p.Ser202Arg) c.1459A>C (p.Ser487Arg) c.1273A>C (p.Ser425Arg) c.1192A>C (p.Ser398Arg) c.898A>C (p.Ser300Arg) c.1279A>C (p.Ser427Arg) | |
2 | g.48688264G>A | CA426124932 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1533C>T (p.Val511=) c.948-125C>T (n.948-125C>T) c.3441+16584G>A (n.3441+16584G>A) c.*277C>T (n.*277C>T) c.1452C>T (p.Val484=) c.276+16584G>A (n.276+16584G>A) c.*220+5960C>T (n.*220+5960C>T) c.576C>T (p.Val192=) c.603C>T (p.Val201=) c.1458C>T (p.Val486=) c.1272C>T (p.Val424=) c.1191C>T (p.Val397=) c.897C>T (p.Val299=) c.1278C>T (p.Val426=) | |
2 | g.48688264G>C | CA426124933 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1533C>G (p.Val511=) c.948-125C>G (n.948-125C>G) c.3441+16584G>C (n.3441+16584G>C) c.*277C>G (n.*277C>G) c.1452C>G (p.Val484=) c.276+16584G>C (n.276+16584G>C) c.*220+5960C>G (n.*220+5960C>G) c.576C>G (p.Val192=) c.603C>G (p.Val201=) c.1458C>G (p.Val486=) c.1272C>G (p.Val424=) c.1191C>G (p.Val397=) c.897C>G (p.Val299=) c.1278C>G (p.Val426=) | dbSNP |
2 | g.48688264G>T | CA426124934 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1533C>A (p.Val511=) c.948-125C>A (n.948-125C>A) c.3441+16584G>T (n.3441+16584G>T) c.*277C>A (n.*277C>A) c.1452C>A (p.Val484=) c.276+16584G>T (n.276+16584G>T) c.*220+5960C>A (n.*220+5960C>A) c.576C>A (p.Val192=) c.603C>A (p.Val201=) c.1458C>A (p.Val486=) c.1272C>A (p.Val424=) c.1191C>A (p.Val397=) c.897C>A (p.Val299=) c.1278C>A (p.Val426=) | |
2 | g.48688265A= | CA1248601053 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1532T= (p.Val511=) c.948-126T= (n.948-126T=) c.3441+16585A= (n.3441+16585A=) c.*276T= (n.*276T=) c.1451T= (p.Val484=) c.276+16585A= (n.276+16585A=) c.*220+5959T= (n.*220+5959T=) c.575T= (p.Val192=) c.602T= (p.Val201=) c.1457T= (p.Val486=) c.1271T= (p.Val424=) c.1190T= (p.Val397=) c.896T= (p.Val299=) c.1277T= (p.Val426=) | |
2 | g.48688265A>C | CA346746457 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1532T>G (p.Val511Gly) c.948-126T>G (n.948-126T>G) c.3441+16585A>C (n.3441+16585A>C) c.*276T>G (n.*276T>G) c.1451T>G (p.Val484Gly) c.276+16585A>C (n.276+16585A>C) c.*220+5959T>G (n.*220+5959T>G) c.575T>G (p.Val192Gly) c.602T>G (p.Val201Gly) c.1457T>G (p.Val486Gly) c.1271T>G (p.Val424Gly) c.1190T>G (p.Val397Gly) c.896T>G (p.Val299Gly) c.1277T>G (p.Val426Gly) | |
2 | g.48688265A>G | CA346746459 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1532T>C (p.Val511Ala) c.948-126T>C (n.948-126T>C) c.3441+16585A>G (n.3441+16585A>G) c.*276T>C (n.*276T>C) c.1451T>C (p.Val484Ala) c.276+16585A>G (n.276+16585A>G) c.*220+5959T>C (n.*220+5959T>C) c.575T>C (p.Val192Ala) c.602T>C (p.Val201Ala) c.1457T>C (p.Val486Ala) c.1271T>C (p.Val424Ala) c.1190T>C (p.Val397Ala) c.896T>C (p.Val299Ala) c.1277T>C (p.Val426Ala) | |
2 | g.48688265A>T | CA346746460 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1532T>A (p.Val511Asp) c.948-126T>A (n.948-126T>A) c.3441+16585A>T (n.3441+16585A>T) c.*276T>A (n.*276T>A) c.1451T>A (p.Val484Asp) c.276+16585A>T (n.276+16585A>T) c.*220+5959T>A (n.*220+5959T>A) c.575T>A (p.Val192Asp) c.602T>A (p.Val201Asp) c.1457T>A (p.Val486Asp) c.1271T>A (p.Val424Asp) c.1190T>A (p.Val397Asp) c.896T>A (p.Val299Asp) c.1277T>A (p.Val426Asp) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48688266C>A | CA346746463 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1531G>T (p.Val511Phe) c.948-127G>T (n.948-127G>T) c.3441+16586C>A (n.3441+16586C>A) c.*275G>T (n.*275G>T) c.1450G>T (p.Val484Phe) c.276+16586C>A (n.276+16586C>A) c.*220+5958G>T (n.*220+5958G>T) c.574G>T (p.Val192Phe) c.601G>T (p.Val201Phe) c.1456G>T (p.Val486Phe) c.1270G>T (p.Val424Phe) c.1189G>T (p.Val397Phe) c.895G>T (p.Val299Phe) c.1276G>T (p.Val426Phe) | |
2 | g.48688266C>G | CA346746472 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1531G>C (p.Val511Leu) c.948-127G>C (n.948-127G>C) c.3441+16586C>G (n.3441+16586C>G) c.*275G>C (n.*275G>C) c.1450G>C (p.Val484Leu) c.276+16586C>G (n.276+16586C>G) c.*220+5958G>C (n.*220+5958G>C) c.574G>C (p.Val192Leu) c.601G>C (p.Val201Leu) c.1456G>C (p.Val486Leu) c.1270G>C (p.Val424Leu) c.1189G>C (p.Val397Leu) c.895G>C (p.Val299Leu) c.1276G>C (p.Val426Leu) | |
2 | g.48688266C>T | CA346746474 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1531G>A (p.Val511Ile) c.948-127G>A (n.948-127G>A) c.3441+16586C>T (n.3441+16586C>T) c.*275G>A (n.*275G>A) c.1450G>A (p.Val484Ile) c.276+16586C>T (n.276+16586C>T) c.*220+5958G>A (n.*220+5958G>A) c.574G>A (p.Val192Ile) c.601G>A (p.Val201Ile) c.1456G>A (p.Val486Ile) c.1270G>A (p.Val424Ile) c.1189G>A (p.Val397Ile) c.895G>A (p.Val299Ile) c.1276G>A (p.Val426Ile) | gnomAD v4 |
2 | g.48688267C>A | CA346746477 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1530G>T (p.Lys510Asn) c.948-128G>T (n.948-128G>T) c.3441+16587C>A (n.3441+16587C>A) c.*274G>T (n.*274G>T) c.1449G>T (p.Lys483Asn) c.276+16587C>A (n.276+16587C>A) c.*220+5957G>T (n.*220+5957G>T) c.573G>T (p.Lys191Asn) c.600G>T (p.Lys200Asn) c.1455G>T (p.Lys485Asn) c.1269G>T (p.Lys423Asn) c.1188G>T (p.Lys396Asn) c.894G>T (p.Lys298Asn) c.1275G>T (p.Lys425Asn) | gnomAD v4 |
2 | g.48688267C= | CA1248601054 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1530G= (p.Lys510=) c.948-128G= (n.948-128G=) c.3441+16587C= (n.3441+16587C=) c.*274G= (n.*274G=) c.1449G= (p.Lys483=) c.276+16587C= (n.276+16587C=) c.*220+5957G= (n.*220+5957G=) c.573G= (p.Lys191=) c.600G= (p.Lys200=) c.1455G= (p.Lys485=) c.1269G= (p.Lys423=) c.1188G= (p.Lys396=) c.894G= (p.Lys298=) c.1275G= (p.Lys425=) | |
2 | g.48688267C>G | CA346746478 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1530G>C (p.Lys510Asn) c.948-128G>C (n.948-128G>C) c.3441+16587C>G (n.3441+16587C>G) c.*274G>C (n.*274G>C) c.1449G>C (p.Lys483Asn) c.276+16587C>G (n.276+16587C>G) c.*220+5957G>C (n.*220+5957G>C) c.573G>C (p.Lys191Asn) c.600G>C (p.Lys200Asn) c.1455G>C (p.Lys485Asn) c.1269G>C (p.Lys423Asn) c.1188G>C (p.Lys396Asn) c.894G>C (p.Lys298Asn) c.1275G>C (p.Lys425Asn) | |
2 | g.48688267C>T | CA426124939 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1530G>A (p.Lys510=) c.948-128G>A (n.948-128G>A) c.3441+16587C>T (n.3441+16587C>T) c.*274G>A (n.*274G>A) c.1449G>A (p.Lys483=) c.276+16587C>T (n.276+16587C>T) c.*220+5957G>A (n.*220+5957G>A) c.573G>A (p.Lys191=) c.600G>A (p.Lys200=) c.1455G>A (p.Lys485=) c.1269G>A (p.Lys423=) c.1188G>A (p.Lys396=) c.894G>A (p.Lys298=) c.1275G>A (p.Lys425=) | dbSNP gnomAD v4 |
2 | g.48688268T>A | CA46752912 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1529A>T (p.Lys510Met) c.948-129A>T (n.948-129A>T) c.3441+16588T>A (n.3441+16588T>A) c.*273A>T (n.*273A>T) c.1448A>T (p.Lys483Met) c.276+16588T>A (n.276+16588T>A) c.*220+5956A>T (n.*220+5956A>T) c.572A>T (p.Lys191Met) c.599A>T (p.Lys200Met) c.1454A>T (p.Lys485Met) c.1268A>T (p.Lys423Met) c.1187A>T (p.Lys396Met) c.893A>T (p.Lys298Met) c.1274A>T (p.Lys425Met) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48688268T>C | CA346746480 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1529A>G (p.Lys510Arg) c.948-129A>G (n.948-129A>G) c.3441+16588T>C (n.3441+16588T>C) c.*273A>G (n.*273A>G) c.1448A>G (p.Lys483Arg) c.276+16588T>C (n.276+16588T>C) c.*220+5956A>G (n.*220+5956A>G) c.572A>G (p.Lys191Arg) c.599A>G (p.Lys200Arg) c.1454A>G (p.Lys485Arg) c.1268A>G (p.Lys423Arg) c.1187A>G (p.Lys396Arg) c.893A>G (p.Lys298Arg) c.1274A>G (p.Lys425Arg) | gnomAD v4 |
2 | g.48688268T>G | CA346746479 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1529A>C (p.Lys510Thr) c.948-129A>C (n.948-129A>C) c.3441+16588T>G (n.3441+16588T>G) c.*273A>C (n.*273A>C) c.1448A>C (p.Lys483Thr) c.276+16588T>G (n.276+16588T>G) c.*220+5956A>C (n.*220+5956A>C) c.572A>C (p.Lys191Thr) c.599A>C (p.Lys200Thr) c.1454A>C (p.Lys485Thr) c.1268A>C (p.Lys423Thr) c.1187A>C (p.Lys396Thr) c.893A>C (p.Lys298Thr) c.1274A>C (p.Lys425Thr) | |
2 | g.48688268T= | CA1248601055 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1529A= (p.Lys510=) c.948-129A= (n.948-129A=) c.3441+16588T= (n.3441+16588T=) c.*273A= (n.*273A=) c.1448A= (p.Lys483=) c.276+16588T= (n.276+16588T=) c.*220+5956A= (n.*220+5956A=) c.572A= (p.Lys191=) c.599A= (p.Lys200=) c.1454A= (p.Lys485=) c.1268A= (p.Lys423=) c.1187A= (p.Lys396=) c.893A= (p.Lys298=) c.1274A= (p.Lys425=) | |
2 | g.48688269T>A | CA346746484 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1528A>T (p.Lys510Ter) c.948-130A>T (n.948-130A>T) c.3441+16589T>A (n.3441+16589T>A) c.*272A>T (n.*272A>T) c.1447A>T (p.Lys483Ter) c.276+16589T>A (n.276+16589T>A) c.*220+5955A>T (n.*220+5955A>T) c.571A>T (p.Lys191Ter) c.598A>T (p.Lys200Ter) c.1453A>T (p.Lys485Ter) c.1267A>T (p.Lys423Ter) c.1186A>T (p.Lys396Ter) c.892A>T (p.Lys298Ter) c.1273A>T (p.Lys425Ter) | |
2 | g.48688269T>C | CA346746491 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1528A>G (p.Lys510Glu) c.948-130A>G (n.948-130A>G) c.3441+16589T>C (n.3441+16589T>C) c.*272A>G (n.*272A>G) c.1447A>G (p.Lys483Glu) c.276+16589T>C (n.276+16589T>C) c.*220+5955A>G (n.*220+5955A>G) c.571A>G (p.Lys191Glu) c.598A>G (p.Lys200Glu) c.1453A>G (p.Lys485Glu) c.1267A>G (p.Lys423Glu) c.1186A>G (p.Lys396Glu) c.892A>G (p.Lys298Glu) c.1273A>G (p.Lys425Glu) | |
2 | g.48688269T>G | CA346746488 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1528A>C (p.Lys510Gln) c.948-130A>C (n.948-130A>C) c.3441+16589T>G (n.3441+16589T>G) c.*272A>C (n.*272A>C) c.1447A>C (p.Lys483Gln) c.276+16589T>G (n.276+16589T>G) c.*220+5955A>C (n.*220+5955A>C) c.571A>C (p.Lys191Gln) c.598A>C (p.Lys200Gln) c.1453A>C (p.Lys485Gln) c.1267A>C (p.Lys423Gln) c.1186A>C (p.Lys396Gln) c.892A>C (p.Lys298Gln) c.1273A>C (p.Lys425Gln) | |
2 | g.48688270C>A | CA346746495 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1527G>T (p.Met509Ile) c.948-131G>T (n.948-131G>T) c.3441+16590C>A (n.3441+16590C>A) c.*271G>T (n.*271G>T) c.1446G>T (p.Met482Ile) c.276+16590C>A (n.276+16590C>A) c.*220+5954G>T (n.*220+5954G>T) c.570G>T (p.Met190Ile) c.597G>T (p.Met199Ile) c.1452G>T (p.Met484Ile) c.1266G>T (p.Met422Ile) c.1185G>T (p.Met395Ile) c.891G>T (p.Met297Ile) c.1272G>T (p.Met424Ile) | |
2 | g.48688270C>G | CA346746498 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1527G>C (p.Met509Ile) c.948-131G>C (n.948-131G>C) c.3441+16590C>G (n.3441+16590C>G) c.*271G>C (n.*271G>C) c.1446G>C (p.Met482Ile) c.276+16590C>G (n.276+16590C>G) c.*220+5954G>C (n.*220+5954G>C) c.570G>C (p.Met190Ile) c.597G>C (p.Met199Ile) c.1452G>C (p.Met484Ile) c.1266G>C (p.Met422Ile) c.1185G>C (p.Met395Ile) c.891G>C (p.Met297Ile) c.1272G>C (p.Met424Ile) | |
2 | g.48688270C>T | CA346746506 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1527G>A (p.Met509Ile) c.948-131G>A (n.948-131G>A) c.3441+16590C>T (n.3441+16590C>T) c.*271G>A (n.*271G>A) c.1446G>A (p.Met482Ile) c.276+16590C>T (n.276+16590C>T) c.*220+5954G>A (n.*220+5954G>A) c.570G>A (p.Met190Ile) c.597G>A (p.Met199Ile) c.1452G>A (p.Met484Ile) c.1266G>A (p.Met422Ile) c.1185G>A (p.Met395Ile) c.891G>A (p.Met297Ile) c.1272G>A (p.Met424Ile) | COSMIC |
2 | g.48688271A= | CA1248601056 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1526T= (p.Met509=) c.948-132T= (n.948-132T=) c.3441+16591A= (n.3441+16591A=) c.*270T= (n.*270T=) c.1445T= (p.Met482=) c.276+16591A= (n.276+16591A=) c.*220+5953T= (n.*220+5953T=) c.569T= (p.Met190=) c.596T= (p.Met199=) c.1451T= (p.Met484=) c.1265T= (p.Met422=) c.1184T= (p.Met395=) c.890T= (p.Met297=) c.1271T= (p.Met424=) | |
2 | g.48688271A>C | CA346746508 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1526T>G (p.Met509Arg) c.948-132T>G (n.948-132T>G) c.3441+16591A>C (n.3441+16591A>C) c.*270T>G (n.*270T>G) c.1445T>G (p.Met482Arg) c.276+16591A>C (n.276+16591A>C) c.*220+5953T>G (n.*220+5953T>G) c.569T>G (p.Met190Arg) c.596T>G (p.Met199Arg) c.1451T>G (p.Met484Arg) c.1265T>G (p.Met422Arg) c.1184T>G (p.Met395Arg) c.890T>G (p.Met297Arg) c.1271T>G (p.Met424Arg) | |
2 | g.48688271A>G | CA1653020 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1526T>C (p.Met509Thr) c.948-132T>C (n.948-132T>C) c.3441+16591A>G (n.3441+16591A>G) c.*270T>C (n.*270T>C) c.1445T>C (p.Met482Thr) c.276+16591A>G (n.276+16591A>G) c.*220+5953T>C (n.*220+5953T>C) c.569T>C (p.Met190Thr) c.596T>C (p.Met199Thr) c.1451T>C (p.Met484Thr) c.1265T>C (p.Met422Thr) c.1184T>C (p.Met395Thr) c.890T>C (p.Met297Thr) c.1271T>C (p.Met424Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688271A>T | CA346746512 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1526T>A (p.Met509Lys) c.948-132T>A (n.948-132T>A) c.3441+16591A>T (n.3441+16591A>T) c.*270T>A (n.*270T>A) c.1445T>A (p.Met482Lys) c.276+16591A>T (n.276+16591A>T) c.*220+5953T>A (n.*220+5953T>A) c.569T>A (p.Met190Lys) c.596T>A (p.Met199Lys) c.1451T>A (p.Met484Lys) c.1265T>A (p.Met422Lys) c.1184T>A (p.Met395Lys) c.890T>A (p.Met297Lys) c.1271T>A (p.Met424Lys) | gnomAD v4 |
2 | g.48688272T>A | CA346746516 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1525A>T (p.Met509Leu) c.948-133A>T (n.948-133A>T) c.3441+16592T>A (n.3441+16592T>A) c.*269A>T (n.*269A>T) c.1444A>T (p.Met482Leu) c.276+16592T>A (n.276+16592T>A) c.*220+5952A>T (n.*220+5952A>T) c.568A>T (p.Met190Leu) c.595A>T (p.Met199Leu) c.1450A>T (p.Met484Leu) c.1264A>T (p.Met422Leu) c.1183A>T (p.Met395Leu) c.889A>T (p.Met297Leu) c.1270A>T (p.Met424Leu) | |
2 | g.48688272T>C | CA46752923 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1525A>G (p.Met509Val) c.948-133A>G (n.948-133A>G) c.3441+16592T>C (n.3441+16592T>C) c.*269A>G (n.*269A>G) c.1444A>G (p.Met482Val) c.276+16592T>C (n.276+16592T>C) c.*220+5952A>G (n.*220+5952A>G) c.568A>G (p.Met190Val) c.595A>G (p.Met199Val) c.1450A>G (p.Met484Val) c.1264A>G (p.Met422Val) c.1183A>G (p.Met395Val) c.889A>G (p.Met297Val) c.1270A>G (p.Met424Val) | dbSNP gnomAD v4 |
2 | g.48688272T>G | CA346746524 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1525A>C (p.Met509Leu) c.948-133A>C (n.948-133A>C) c.3441+16592T>G (n.3441+16592T>G) c.*269A>C (n.*269A>C) c.1444A>C (p.Met482Leu) c.276+16592T>G (n.276+16592T>G) c.*220+5952A>C (n.*220+5952A>C) c.568A>C (p.Met190Leu) c.595A>C (p.Met199Leu) c.1450A>C (p.Met484Leu) c.1264A>C (p.Met422Leu) c.1183A>C (p.Met395Leu) c.889A>C (p.Met297Leu) c.1270A>C (p.Met424Leu) | |
2 | g.48688272T= | CA1248601057 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1525A= (p.Met509=) c.948-133A= (n.948-133A=) c.3441+16592T= (n.3441+16592T=) c.*269A= (n.*269A=) c.1444A= (p.Met482=) c.276+16592T= (n.276+16592T=) c.*220+5952A= (n.*220+5952A=) c.568A= (p.Met190=) c.595A= (p.Met199=) c.1450A= (p.Met484=) c.1264A= (p.Met422=) c.1183A= (p.Met395=) c.889A= (p.Met297=) c.1270A= (p.Met424=) | |
2 | g.48688273G>A | CA426124948 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1524C>T (p.Tyr508=) c.948-134C>T (n.948-134C>T) c.3441+16593G>A (n.3441+16593G>A) c.*268C>T (n.*268C>T) c.1443C>T (p.Tyr481=) c.276+16593G>A (n.276+16593G>A) c.*220+5951C>T (n.*220+5951C>T) c.567C>T (p.Tyr189=) c.594C>T (p.Tyr198=) c.1449C>T (p.Tyr483=) c.1263C>T (p.Tyr421=) c.1182C>T (p.Tyr394=) c.888C>T (p.Tyr296=) c.1269C>T (p.Tyr423=) | COSMIC |
2 | g.48688273G>C | CA346746527 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1524C>G (p.Tyr508Ter) c.948-134C>G (n.948-134C>G) c.3441+16593G>C (n.3441+16593G>C) c.*268C>G (n.*268C>G) c.1443C>G (p.Tyr481Ter) c.276+16593G>C (n.276+16593G>C) c.*220+5951C>G (n.*220+5951C>G) c.567C>G (p.Tyr189Ter) c.594C>G (p.Tyr198Ter) c.1449C>G (p.Tyr483Ter) c.1263C>G (p.Tyr421Ter) c.1182C>G (p.Tyr394Ter) c.888C>G (p.Tyr296Ter) c.1269C>G (p.Tyr423Ter) | |
2 | g.48688273G>T | CA346746531 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1524C>A (p.Tyr508Ter) c.948-134C>A (n.948-134C>A) c.3441+16593G>T (n.3441+16593G>T) c.*268C>A (n.*268C>A) c.1443C>A (p.Tyr481Ter) c.276+16593G>T (n.276+16593G>T) c.*220+5951C>A (n.*220+5951C>A) c.567C>A (p.Tyr189Ter) c.594C>A (p.Tyr198Ter) c.1449C>A (p.Tyr483Ter) c.1263C>A (p.Tyr421Ter) c.1182C>A (p.Tyr394Ter) c.888C>A (p.Tyr296Ter) c.1269C>A (p.Tyr423Ter) | gnomAD v4 |
2 | g.48688274T>A | CA346746540 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1523A>T (p.Tyr508Phe) c.948-135A>T (n.948-135A>T) c.3441+16594T>A (n.3441+16594T>A) c.*267A>T (n.*267A>T) c.1442A>T (p.Tyr481Phe) c.276+16594T>A (n.276+16594T>A) c.*220+5950A>T (n.*220+5950A>T) c.566A>T (p.Tyr189Phe) c.593A>T (p.Tyr198Phe) c.1448A>T (p.Tyr483Phe) c.1262A>T (p.Tyr421Phe) c.1181A>T (p.Tyr394Phe) c.887A>T (p.Tyr296Phe) c.1268A>T (p.Tyr423Phe) | COSMIC |
2 | g.48688274T>C | CA346746537 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1523A>G (p.Tyr508Cys) c.948-135A>G (n.948-135A>G) c.3441+16594T>C (n.3441+16594T>C) c.*267A>G (n.*267A>G) c.1442A>G (p.Tyr481Cys) c.276+16594T>C (n.276+16594T>C) c.*220+5950A>G (n.*220+5950A>G) c.566A>G (p.Tyr189Cys) c.593A>G (p.Tyr198Cys) c.1448A>G (p.Tyr483Cys) c.1262A>G (p.Tyr421Cys) c.1181A>G (p.Tyr394Cys) c.887A>G (p.Tyr296Cys) c.1268A>G (p.Tyr423Cys) | |
2 | g.48688274T>G | CA346746534 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1523A>C (p.Tyr508Ser) c.948-135A>C (n.948-135A>C) c.3441+16594T>G (n.3441+16594T>G) c.*267A>C (n.*267A>C) c.1442A>C (p.Tyr481Ser) c.276+16594T>G (n.276+16594T>G) c.*220+5950A>C (n.*220+5950A>C) c.566A>C (p.Tyr189Ser) c.593A>C (p.Tyr198Ser) c.1448A>C (p.Tyr483Ser) c.1262A>C (p.Tyr421Ser) c.1181A>C (p.Tyr394Ser) c.887A>C (p.Tyr296Ser) c.1268A>C (p.Tyr423Ser) | |
2 | g.48688275A>C | CA346746541 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1522T>G (p.Tyr508Asp) c.948-136T>G (n.948-136T>G) c.3441+16595A>C (n.3441+16595A>C) c.*266T>G (n.*266T>G) c.1441T>G (p.Tyr481Asp) c.276+16595A>C (n.276+16595A>C) c.*220+5949T>G (n.*220+5949T>G) c.565T>G (p.Tyr189Asp) c.592T>G (p.Tyr198Asp) c.1447T>G (p.Tyr483Asp) c.1261T>G (p.Tyr421Asp) c.1180T>G (p.Tyr394Asp) c.886T>G (p.Tyr296Asp) c.1267T>G (p.Tyr423Asp) | |
2 | g.48688275A>G | CA346746542 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1522T>C (p.Tyr508His) c.948-136T>C (n.948-136T>C) c.3441+16595A>G (n.3441+16595A>G) c.*266T>C (n.*266T>C) c.1441T>C (p.Tyr481His) c.276+16595A>G (n.276+16595A>G) c.*220+5949T>C (n.*220+5949T>C) c.565T>C (p.Tyr189His) c.592T>C (p.Tyr198His) c.1447T>C (p.Tyr483His) c.1261T>C (p.Tyr421His) c.1180T>C (p.Tyr394His) c.886T>C (p.Tyr296His) c.1267T>C (p.Tyr423His) | |
2 | g.48688275A>T | CA346746543 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1522T>A (p.Tyr508Asn) c.948-136T>A (n.948-136T>A) c.3441+16595A>T (n.3441+16595A>T) c.*266T>A (n.*266T>A) c.1441T>A (p.Tyr481Asn) c.276+16595A>T (n.276+16595A>T) c.*220+5949T>A (n.*220+5949T>A) c.565T>A (p.Tyr189Asn) c.592T>A (p.Tyr198Asn) c.1447T>A (p.Tyr483Asn) c.1261T>A (p.Tyr421Asn) c.1180T>A (p.Tyr394Asn) c.886T>A (p.Tyr296Asn) c.1267T>A (p.Tyr423Asn) | |
2 | g.48688276A>C | CA346746544 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1521T>G (p.Asn507Lys) c.948-137T>G (n.948-137T>G) c.3441+16596A>C (n.3441+16596A>C) c.*265T>G (n.*265T>G) c.1440T>G (p.Asn480Lys) c.276+16596A>C (n.276+16596A>C) c.*220+5948T>G (n.*220+5948T>G) c.564T>G (p.Asn188Lys) c.591T>G (p.Asn197Lys) c.1446T>G (p.Asn482Lys) c.1260T>G (p.Asn420Lys) c.1179T>G (p.Asn393Lys) c.885T>G (p.Asn295Lys) c.1266T>G (p.Asn422Lys) | |
2 | g.48688276A>G | CA426124951 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1521T>C (p.Asn507=) c.948-137T>C (n.948-137T>C) c.3441+16596A>G (n.3441+16596A>G) c.*265T>C (n.*265T>C) c.1440T>C (p.Asn480=) c.276+16596A>G (n.276+16596A>G) c.*220+5948T>C (n.*220+5948T>C) c.564T>C (p.Asn188=) c.591T>C (p.Asn197=) c.1446T>C (p.Asn482=) c.1260T>C (p.Asn420=) c.1179T>C (p.Asn393=) c.885T>C (p.Asn295=) c.1266T>C (p.Asn422=) | gnomAD v4 |
2 | g.48688276A>T | CA346746546 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1521T>A (p.Asn507Lys) c.948-137T>A (n.948-137T>A) c.3441+16596A>T (n.3441+16596A>T) c.*265T>A (n.*265T>A) c.1440T>A (p.Asn480Lys) c.276+16596A>T (n.276+16596A>T) c.*220+5948T>A (n.*220+5948T>A) c.564T>A (p.Asn188Lys) c.591T>A (p.Asn197Lys) c.1446T>A (p.Asn482Lys) c.1260T>A (p.Asn420Lys) c.1179T>A (p.Asn393Lys) c.885T>A (p.Asn295Lys) c.1266T>A (p.Asn422Lys) | |
2 | g.48688277T>A | CA346746549 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1520A>T (p.Asn507Ile) c.948-138A>T (n.948-138A>T) c.3441+16597T>A (n.3441+16597T>A) c.*264A>T (n.*264A>T) c.1439A>T (p.Asn480Ile) c.276+16597T>A (n.276+16597T>A) c.*220+5947A>T (n.*220+5947A>T) c.563A>T (p.Asn188Ile) c.590A>T (p.Asn197Ile) c.1445A>T (p.Asn482Ile) c.1259A>T (p.Asn420Ile) c.1178A>T (p.Asn393Ile) c.884A>T (p.Asn295Ile) c.1265A>T (p.Asn422Ile) | |
2 | g.48688277T>C | CA346746551 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1520A>G (p.Asn507Ser) c.948-138A>G (n.948-138A>G) c.3441+16597T>C (n.3441+16597T>C) c.*264A>G (n.*264A>G) c.1439A>G (p.Asn480Ser) c.276+16597T>C (n.276+16597T>C) c.*220+5947A>G (n.*220+5947A>G) c.563A>G (p.Asn188Ser) c.590A>G (p.Asn197Ser) c.1445A>G (p.Asn482Ser) c.1259A>G (p.Asn420Ser) c.1178A>G (p.Asn393Ser) c.884A>G (p.Asn295Ser) c.1265A>G (p.Asn422Ser) | ClinVar dbSNP gnomAD v4 |
2 | g.48688277T>G | CA346746552 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1520A>C (p.Asn507Thr) c.948-138A>C (n.948-138A>C) c.3441+16597T>G (n.3441+16597T>G) c.*264A>C (n.*264A>C) c.1439A>C (p.Asn480Thr) c.276+16597T>G (n.276+16597T>G) c.*220+5947A>C (n.*220+5947A>C) c.563A>C (p.Asn188Thr) c.590A>C (p.Asn197Thr) c.1445A>C (p.Asn482Thr) c.1259A>C (p.Asn420Thr) c.1178A>C (p.Asn393Thr) c.884A>C (p.Asn295Thr) c.1265A>C (p.Asn422Thr) | |
2 | g.48688277T= | CA1248601058 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1520A= (p.Asn507=) c.948-138A= (n.948-138A=) c.3441+16597T= (n.3441+16597T=) c.*264A= (n.*264A=) c.1439A= (p.Asn480=) c.276+16597T= (n.276+16597T=) c.*220+5947A= (n.*220+5947A=) c.563A= (p.Asn188=) c.590A= (p.Asn197=) c.1445A= (p.Asn482=) c.1259A= (p.Asn420=) c.1178A= (p.Asn393=) c.884A= (p.Asn295=) c.1265A= (p.Asn422=) | |
2 | g.48688278T>A | CA346746554 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1519A>T (p.Asn507Tyr) c.948-139A>T (n.948-139A>T) c.3441+16598T>A (n.3441+16598T>A) c.*263A>T (n.*263A>T) c.1438A>T (p.Asn480Tyr) c.276+16598T>A (n.276+16598T>A) c.*220+5946A>T (n.*220+5946A>T) c.562A>T (p.Asn188Tyr) c.589A>T (p.Asn197Tyr) c.1444A>T (p.Asn482Tyr) c.1258A>T (p.Asn420Tyr) c.1177A>T (p.Asn393Tyr) c.883A>T (p.Asn295Tyr) c.1264A>T (p.Asn422Tyr) | |
2 | g.48688278T>C | CA346746556 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1519A>G (p.Asn507Asp) c.948-139A>G (n.948-139A>G) c.3441+16598T>C (n.3441+16598T>C) c.*263A>G (n.*263A>G) c.1438A>G (p.Asn480Asp) c.276+16598T>C (n.276+16598T>C) c.*220+5946A>G (n.*220+5946A>G) c.562A>G (p.Asn188Asp) c.589A>G (p.Asn197Asp) c.1444A>G (p.Asn482Asp) c.1258A>G (p.Asn420Asp) c.1177A>G (p.Asn393Asp) c.883A>G (p.Asn295Asp) c.1264A>G (p.Asn422Asp) | |
2 | g.48688278T>G | CA346746559 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1519A>C (p.Asn507His) c.948-139A>C (n.948-139A>C) c.3441+16598T>G (n.3441+16598T>G) c.*263A>C (n.*263A>C) c.1438A>C (p.Asn480His) c.276+16598T>G (n.276+16598T>G) c.*220+5946A>C (n.*220+5946A>C) c.562A>C (p.Asn188His) c.589A>C (p.Asn197His) c.1444A>C (p.Asn482His) c.1258A>C (p.Asn420His) c.1177A>C (p.Asn393His) c.883A>C (p.Asn295His) c.1264A>C (p.Asn422His) | |
2 | g.48688279G>A | CA426124952 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1518C>T (p.Ser506=) c.948-140C>T (n.948-140C>T) c.3441+16599G>A (n.3441+16599G>A) c.*262C>T (n.*262C>T) c.1437C>T (p.Ser479=) c.276+16599G>A (n.276+16599G>A) c.*220+5945C>T (n.*220+5945C>T) c.561C>T (p.Ser187=) c.588C>T (p.Ser196=) c.1443C>T (p.Ser481=) c.1257C>T (p.Ser419=) c.1176C>T (p.Ser392=) c.882C>T (p.Ser294=) c.1263C>T (p.Ser421=) | gnomAD v4 |
2 | g.48688279G>C | CA346746562 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1518C>G (p.Ser506Arg) c.948-140C>G (n.948-140C>G) c.3441+16599G>C (n.3441+16599G>C) c.*262C>G (n.*262C>G) c.1437C>G (p.Ser479Arg) c.276+16599G>C (n.276+16599G>C) c.*220+5945C>G (n.*220+5945C>G) c.561C>G (p.Ser187Arg) c.588C>G (p.Ser196Arg) c.1443C>G (p.Ser481Arg) c.1257C>G (p.Ser419Arg) c.1176C>G (p.Ser392Arg) c.882C>G (p.Ser294Arg) c.1263C>G (p.Ser421Arg) | |
2 | g.48688279G>T | CA346746565 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1518C>A (p.Ser506Arg) c.948-140C>A (n.948-140C>A) c.3441+16599G>T (n.3441+16599G>T) c.*262C>A (n.*262C>A) c.1437C>A (p.Ser479Arg) c.276+16599G>T (n.276+16599G>T) c.*220+5945C>A (n.*220+5945C>A) c.561C>A (p.Ser187Arg) c.588C>A (p.Ser196Arg) c.1443C>A (p.Ser481Arg) c.1257C>A (p.Ser419Arg) c.1176C>A (p.Ser392Arg) c.882C>A (p.Ser294Arg) c.1263C>A (p.Ser421Arg) | |
2 | g.48688280C>A | CA346746569 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1517G>T (p.Ser506Ile) c.948-141G>T (n.948-141G>T) c.3441+16600C>A (n.3441+16600C>A) c.*261G>T (n.*261G>T) c.1436G>T (p.Ser479Ile) c.276+16600C>A (n.276+16600C>A) c.*220+5944G>T (n.*220+5944G>T) c.560G>T (p.Ser187Ile) c.587G>T (p.Ser196Ile) c.1442G>T (p.Ser481Ile) c.1256G>T (p.Ser419Ile) c.1175G>T (p.Ser392Ile) c.881G>T (p.Ser294Ile) c.1262G>T (p.Ser421Ile) | COSMIC |
2 | g.48688280C>G | CA346746571 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1517G>C (p.Ser506Thr) c.948-141G>C (n.948-141G>C) c.3441+16600C>G (n.3441+16600C>G) c.*261G>C (n.*261G>C) c.1436G>C (p.Ser479Thr) c.276+16600C>G (n.276+16600C>G) c.*220+5944G>C (n.*220+5944G>C) c.560G>C (p.Ser187Thr) c.587G>C (p.Ser196Thr) c.1442G>C (p.Ser481Thr) c.1256G>C (p.Ser419Thr) c.1175G>C (p.Ser392Thr) c.881G>C (p.Ser294Thr) c.1262G>C (p.Ser421Thr) | |
2 | g.48688280C>T | CA346746567 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1517G>A (p.Ser506Asn) c.948-141G>A (n.948-141G>A) c.3441+16600C>T (n.3441+16600C>T) c.*261G>A (n.*261G>A) c.1436G>A (p.Ser479Asn) c.276+16600C>T (n.276+16600C>T) c.*220+5944G>A (n.*220+5944G>A) c.560G>A (p.Ser187Asn) c.587G>A (p.Ser196Asn) c.1442G>A (p.Ser481Asn) c.1256G>A (p.Ser419Asn) c.1175G>A (p.Ser392Asn) c.881G>A (p.Ser294Asn) c.1262G>A (p.Ser421Asn) | |
2 | g.48688281T>A | CA346746574 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1516A>T (p.Ser506Cys) c.948-142A>T (n.948-142A>T) c.3441+16601T>A (n.3441+16601T>A) c.*260A>T (n.*260A>T) c.1435A>T (p.Ser479Cys) c.276+16601T>A (n.276+16601T>A) c.*220+5943A>T (n.*220+5943A>T) c.559A>T (p.Ser187Cys) c.586A>T (p.Ser196Cys) c.1441A>T (p.Ser481Cys) c.1255A>T (p.Ser419Cys) c.1174A>T (p.Ser392Cys) c.880A>T (p.Ser294Cys) c.1261A>T (p.Ser421Cys) | |
2 | g.48688281T>C | CA346746578 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1516A>G (p.Ser506Gly) c.948-142A>G (n.948-142A>G) c.3441+16601T>C (n.3441+16601T>C) c.*260A>G (n.*260A>G) c.1435A>G (p.Ser479Gly) c.276+16601T>C (n.276+16601T>C) c.*220+5943A>G (n.*220+5943A>G) c.559A>G (p.Ser187Gly) c.586A>G (p.Ser196Gly) c.1441A>G (p.Ser481Gly) c.1255A>G (p.Ser419Gly) c.1174A>G (p.Ser392Gly) c.880A>G (p.Ser294Gly) c.1261A>G (p.Ser421Gly) | gnomAD v4 |
2 | g.48688281T>G | CA346746576 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1516A>C (p.Ser506Arg) c.948-142A>C (n.948-142A>C) c.3441+16601T>G (n.3441+16601T>G) c.*260A>C (n.*260A>C) c.1435A>C (p.Ser479Arg) c.276+16601T>G (n.276+16601T>G) c.*220+5943A>C (n.*220+5943A>C) c.559A>C (p.Ser187Arg) c.586A>C (p.Ser196Arg) c.1441A>C (p.Ser481Arg) c.1255A>C (p.Ser419Arg) c.1174A>C (p.Ser392Arg) c.880A>C (p.Ser294Arg) c.1261A>C (p.Ser421Arg) | |
2 | g.48688282G>A | CA426124955 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1515C>T (p.Val505=) c.948-143C>T (n.948-143C>T) c.3441+16602G>A (n.3441+16602G>A) c.*259C>T (n.*259C>T) c.1434C>T (p.Val478=) c.276+16602G>A (n.276+16602G>A) c.*220+5942C>T (n.*220+5942C>T) c.558C>T (p.Val186=) c.585C>T (p.Val195=) c.1440C>T (p.Val480=) c.1254C>T (p.Val418=) c.1173C>T (p.Val391=) c.879C>T (p.Val293=) c.1260C>T (p.Val420=) | |
2 | g.48688282G>C | CA426124956 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1515C>G (p.Val505=) c.948-143C>G (n.948-143C>G) c.3441+16602G>C (n.3441+16602G>C) c.*259C>G (n.*259C>G) c.1434C>G (p.Val478=) c.276+16602G>C (n.276+16602G>C) c.*220+5942C>G (n.*220+5942C>G) c.558C>G (p.Val186=) c.585C>G (p.Val195=) c.1440C>G (p.Val480=) c.1254C>G (p.Val418=) c.1173C>G (p.Val391=) c.879C>G (p.Val293=) c.1260C>G (p.Val420=) | |
2 | g.48688282G>T | CA426124957 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1515C>A (p.Val505=) c.948-143C>A (n.948-143C>A) c.3441+16602G>T (n.3441+16602G>T) c.*259C>A (n.*259C>A) c.1434C>A (p.Val478=) c.276+16602G>T (n.276+16602G>T) c.*220+5942C>A (n.*220+5942C>A) c.558C>A (p.Val186=) c.585C>A (p.Val195=) c.1440C>A (p.Val480=) c.1254C>A (p.Val418=) c.1173C>A (p.Val391=) c.879C>A (p.Val293=) c.1260C>A (p.Val420=) | |
2 | g.48688283A= | CA1248601059 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1514T= (p.Val505=) c.948-144T= (n.948-144T=) c.3441+16603A= (n.3441+16603A=) c.*258T= (n.*258T=) c.1433T= (p.Val478=) c.276+16603A= (n.276+16603A=) c.*220+5941T= (n.*220+5941T=) c.557T= (p.Val186=) c.584T= (p.Val195=) c.1439T= (p.Val480=) c.1253T= (p.Val418=) c.1172T= (p.Val391=) c.878T= (p.Val293=) c.1259T= (p.Val420=) | |
2 | g.48688283A>C | CA346746580 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1514T>G (p.Val505Gly) c.948-144T>G (n.948-144T>G) c.3441+16603A>C (n.3441+16603A>C) c.*258T>G (n.*258T>G) c.1433T>G (p.Val478Gly) c.276+16603A>C (n.276+16603A>C) c.*220+5941T>G (n.*220+5941T>G) c.557T>G (p.Val186Gly) c.584T>G (p.Val195Gly) c.1439T>G (p.Val480Gly) c.1253T>G (p.Val418Gly) c.1172T>G (p.Val391Gly) c.878T>G (p.Val293Gly) c.1259T>G (p.Val420Gly) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48688283A>G | CA346746584 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1514T>C (p.Val505Ala) c.948-144T>C (n.948-144T>C) c.3441+16603A>G (n.3441+16603A>G) c.*258T>C (n.*258T>C) c.1433T>C (p.Val478Ala) c.276+16603A>G (n.276+16603A>G) c.*220+5941T>C (n.*220+5941T>C) c.557T>C (p.Val186Ala) c.584T>C (p.Val195Ala) c.1439T>C (p.Val480Ala) c.1253T>C (p.Val418Ala) c.1172T>C (p.Val391Ala) c.878T>C (p.Val293Ala) c.1259T>C (p.Val420Ala) | |
2 | g.48688283A>T | CA346746581 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1514T>A (p.Val505Asp) c.948-144T>A (n.948-144T>A) c.3441+16603A>T (n.3441+16603A>T) c.*258T>A (n.*258T>A) c.1433T>A (p.Val478Asp) c.276+16603A>T (n.276+16603A>T) c.*220+5941T>A (n.*220+5941T>A) c.557T>A (p.Val186Asp) c.584T>A (p.Val195Asp) c.1439T>A (p.Val480Asp) c.1253T>A (p.Val418Asp) c.1172T>A (p.Val391Asp) c.878T>A (p.Val293Asp) c.1259T>A (p.Val420Asp) | |
2 | g.48688284C>A | CA346746589 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1513G>T (p.Val505Phe) c.948-145G>T (n.948-145G>T) c.3441+16604C>A (n.3441+16604C>A) c.*257G>T (n.*257G>T) c.1432G>T (p.Val478Phe) c.276+16604C>A (n.276+16604C>A) c.*220+5940G>T (n.*220+5940G>T) c.556G>T (p.Val186Phe) c.583G>T (p.Val195Phe) c.1438G>T (p.Val480Phe) c.1252G>T (p.Val418Phe) c.1171G>T (p.Val391Phe) c.877G>T (p.Val293Phe) c.1258G>T (p.Val420Phe) | gnomAD v4 |
2 | g.48688284C>G | CA346746596 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1513G>C (p.Val505Leu) c.948-145G>C (n.948-145G>C) c.3441+16604C>G (n.3441+16604C>G) c.*257G>C (n.*257G>C) c.1432G>C (p.Val478Leu) c.276+16604C>G (n.276+16604C>G) c.*220+5940G>C (n.*220+5940G>C) c.556G>C (p.Val186Leu) c.583G>C (p.Val195Leu) c.1438G>C (p.Val480Leu) c.1252G>C (p.Val418Leu) c.1171G>C (p.Val391Leu) c.877G>C (p.Val293Leu) c.1258G>C (p.Val420Leu) | |
2 | g.48688284C>T | CA346746592 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1513G>A (p.Val505Ile) c.948-145G>A (n.948-145G>A) c.3441+16604C>T (n.3441+16604C>T) c.*257G>A (n.*257G>A) c.1432G>A (p.Val478Ile) c.276+16604C>T (n.276+16604C>T) c.*220+5940G>A (n.*220+5940G>A) c.556G>A (p.Val186Ile) c.583G>A (p.Val195Ile) c.1438G>A (p.Val480Ile) c.1252G>A (p.Val418Ile) c.1171G>A (p.Val391Ile) c.877G>A (p.Val293Ile) c.1258G>A (p.Val420Ile) | COSMIC |
2 | g.48688285A= | CA1248601060 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1512T= (p.Gly504=) c.948-146T= (n.948-146T=) c.3441+16605A= (n.3441+16605A=) c.*256T= (n.*256T=) c.1431T= (p.Gly477=) c.276+16605A= (n.276+16605A=) c.*220+5939T= (n.*220+5939T=) c.555T= (p.Gly185=) c.582T= (p.Gly194=) c.1437T= (p.Gly479=) c.1251T= (p.Gly417=) c.1170T= (p.Gly390=) c.876T= (p.Gly292=) c.1257T= (p.Gly419=) | |
2 | g.48688285A>C | CA46752925 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1512T>G (p.Gly504=) c.948-146T>G (n.948-146T>G) c.3441+16605A>C (n.3441+16605A>C) c.*256T>G (n.*256T>G) c.1431T>G (p.Gly477=) c.276+16605A>C (n.276+16605A>C) c.*220+5939T>G (n.*220+5939T>G) c.555T>G (p.Gly185=) c.582T>G (p.Gly194=) c.1437T>G (p.Gly479=) c.1251T>G (p.Gly417=) c.1170T>G (p.Gly390=) c.876T>G (p.Gly292=) c.1257T>G (p.Gly419=) | dbSNP |
2 | g.48688285A>G | CA426124963 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1512T>C (p.Gly504=) c.948-146T>C (n.948-146T>C) c.3441+16605A>G (n.3441+16605A>G) c.*256T>C (n.*256T>C) c.1431T>C (p.Gly477=) c.276+16605A>G (n.276+16605A>G) c.*220+5939T>C (n.*220+5939T>C) c.555T>C (p.Gly185=) c.582T>C (p.Gly194=) c.1437T>C (p.Gly479=) c.1251T>C (p.Gly417=) c.1170T>C (p.Gly390=) c.876T>C (p.Gly292=) c.1257T>C (p.Gly419=) | |
2 | g.48688285A>T | CA426124964 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1512T>A (p.Gly504=) c.948-146T>A (n.948-146T>A) c.3441+16605A>T (n.3441+16605A>T) c.*256T>A (n.*256T>A) c.1431T>A (p.Gly477=) c.276+16605A>T (n.276+16605A>T) c.*220+5939T>A (n.*220+5939T>A) c.555T>A (p.Gly185=) c.582T>A (p.Gly194=) c.1437T>A (p.Gly479=) c.1251T>A (p.Gly417=) c.1170T>A (p.Gly390=) c.876T>A (p.Gly292=) c.1257T>A (p.Gly419=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48688286C>A | CA346746609 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1511G>T (p.Gly504Val) c.948-147G>T (n.948-147G>T) c.3441+16606C>A (n.3441+16606C>A) c.*255G>T (n.*255G>T) c.1430G>T (p.Gly477Val) c.276+16606C>A (n.276+16606C>A) c.*220+5938G>T (n.*220+5938G>T) c.554G>T (p.Gly185Val) c.581G>T (p.Gly194Val) c.1436G>T (p.Gly479Val) c.1250G>T (p.Gly417Val) c.1169G>T (p.Gly390Val) c.875G>T (p.Gly292Val) c.1256G>T (p.Gly419Val) | dbSNP gnomAD v4 |
2 | g.48688286C= | CA1248601061 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1511G= (p.Gly504=) c.948-147G= (n.948-147G=) c.3441+16606C= (n.3441+16606C=) c.*255G= (n.*255G=) c.1430G= (p.Gly477=) c.276+16606C= (n.276+16606C=) c.*220+5938G= (n.*220+5938G=) c.554G= (p.Gly185=) c.581G= (p.Gly194=) c.1436G= (p.Gly479=) c.1250G= (p.Gly417=) c.1169G= (p.Gly390=) c.875G= (p.Gly292=) c.1256G= (p.Gly419=) | |
2 | g.48688286C>G | CA346746605 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1511G>C (p.Gly504Ala) c.948-147G>C (n.948-147G>C) c.3441+16606C>G (n.3441+16606C>G) c.*255G>C (n.*255G>C) c.1430G>C (p.Gly477Ala) c.276+16606C>G (n.276+16606C>G) c.*220+5938G>C (n.*220+5938G>C) c.554G>C (p.Gly185Ala) c.581G>C (p.Gly194Ala) c.1436G>C (p.Gly479Ala) c.1250G>C (p.Gly417Ala) c.1169G>C (p.Gly390Ala) c.875G>C (p.Gly292Ala) c.1256G>C (p.Gly419Ala) | |
2 | g.48688286C>T | CA346746607 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1511G>A (p.Gly504Asp) c.948-147G>A (n.948-147G>A) c.3441+16606C>T (n.3441+16606C>T) c.*255G>A (n.*255G>A) c.1430G>A (p.Gly477Asp) c.276+16606C>T (n.276+16606C>T) c.*220+5938G>A (n.*220+5938G>A) c.554G>A (p.Gly185Asp) c.581G>A (p.Gly194Asp) c.1436G>A (p.Gly479Asp) c.1250G>A (p.Gly417Asp) c.1169G>A (p.Gly390Asp) c.875G>A (p.Gly292Asp) c.1256G>A (p.Gly419Asp) | |
2 | g.48688287C>A | CA346746614 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1510G>T (p.Gly504Cys) c.948-148G>T (n.948-148G>T) c.3441+16607C>A (n.3441+16607C>A) c.*254G>T (n.*254G>T) c.1429G>T (p.Gly477Cys) c.276+16607C>A (n.276+16607C>A) c.*220+5937G>T (n.*220+5937G>T) c.553G>T (p.Gly185Cys) c.580G>T (p.Gly194Cys) c.1435G>T (p.Gly479Cys) c.1249G>T (p.Gly417Cys) c.1168G>T (p.Gly390Cys) c.874G>T (p.Gly292Cys) c.1255G>T (p.Gly419Cys) | |
2 | g.48688287C= | CA1248601062 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1510G= (p.Gly504=) c.948-148G= (n.948-148G=) c.3441+16607C= (n.3441+16607C=) c.*254G= (n.*254G=) c.1429G= (p.Gly477=) c.276+16607C= (n.276+16607C=) c.*220+5937G= (n.*220+5937G=) c.553G= (p.Gly185=) c.580G= (p.Gly194=) c.1435G= (p.Gly479=) c.1249G= (p.Gly417=) c.1168G= (p.Gly390=) c.874G= (p.Gly292=) c.1255G= (p.Gly419=) | |
2 | g.48688287C>G | CA346746616 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1510G>C (p.Gly504Arg) c.948-148G>C (n.948-148G>C) c.3441+16607C>G (n.3441+16607C>G) c.*254G>C (n.*254G>C) c.1429G>C (p.Gly477Arg) c.276+16607C>G (n.276+16607C>G) c.*220+5937G>C (n.*220+5937G>C) c.553G>C (p.Gly185Arg) c.580G>C (p.Gly194Arg) c.1435G>C (p.Gly479Arg) c.1249G>C (p.Gly417Arg) c.1168G>C (p.Gly390Arg) c.874G>C (p.Gly292Arg) c.1255G>C (p.Gly419Arg) | gnomAD v4 |
2 | g.48688287C>T | CA1653021 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1510G>A (p.Gly504Ser) c.948-148G>A (n.948-148G>A) c.3441+16607C>T (n.3441+16607C>T) c.*254G>A (n.*254G>A) c.1429G>A (p.Gly477Ser) c.276+16607C>T (n.276+16607C>T) c.*220+5937G>A (n.*220+5937G>A) c.553G>A (p.Gly185Ser) c.580G>A (p.Gly194Ser) c.1435G>A (p.Gly479Ser) c.1249G>A (p.Gly417Ser) c.1168G>A (p.Gly390Ser) c.874G>A (p.Gly292Ser) c.1255G>A (p.Gly419Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.48688288G>A | CA1653022 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1509C>T (p.Val503=) c.948-149C>T (n.948-149C>T) c.3441+16608G>A (n.3441+16608G>A) c.*253C>T (n.*253C>T) c.1428C>T (p.Val476=) c.276+16608G>A (n.276+16608G>A) c.*220+5936C>T (n.*220+5936C>T) c.552C>T (p.Val184=) c.579C>T (p.Val193=) c.1434C>T (p.Val478=) c.1248C>T (p.Val416=) c.1167C>T (p.Val389=) c.873C>T (p.Val291=) c.1254C>T (p.Val418=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.48688288G>C | CA426124966 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1509C>G (p.Val503=) c.948-149C>G (n.948-149C>G) c.3441+16608G>C (n.3441+16608G>C) c.*253C>G (n.*253C>G) c.1428C>G (p.Val476=) c.276+16608G>C (n.276+16608G>C) c.*220+5936C>G (n.*220+5936C>G) c.552C>G (p.Val184=) c.579C>G (p.Val193=) c.1434C>G (p.Val478=) c.1248C>G (p.Val416=) c.1167C>G (p.Val389=) c.873C>G (p.Val291=) c.1254C>G (p.Val418=) | |
2 | g.48688288G= | CA1248601063 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1509C= (p.Val503=) c.948-149C= (n.948-149C=) c.3441+16608G= (n.3441+16608G=) c.*253C= (n.*253C=) c.1428C= (p.Val476=) c.276+16608G= (n.276+16608G=) c.*220+5936C= (n.*220+5936C=) c.552C= (p.Val184=) c.579C= (p.Val193=) c.1434C= (p.Val478=) c.1248C= (p.Val416=) c.1167C= (p.Val389=) c.873C= (p.Val291=) c.1254C= (p.Val418=) | |
2 | g.48688288G>T | CA426124967 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1509C>A (p.Val503=) c.948-149C>A (n.948-149C>A) c.3441+16608G>T (n.3441+16608G>T) c.*253C>A (n.*253C>A) c.1428C>A (p.Val476=) c.276+16608G>T (n.276+16608G>T) c.*220+5936C>A (n.*220+5936C>A) c.552C>A (p.Val184=) c.579C>A (p.Val193=) c.1434C>A (p.Val478=) c.1248C>A (p.Val416=) c.1167C>A (p.Val389=) c.873C>A (p.Val291=) c.1254C>A (p.Val418=) | |
2 | g.48688289A>C | CA346746629 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1508T>G (p.Val503Gly) c.948-150T>G (n.948-150T>G) c.3441+16609A>C (n.3441+16609A>C) c.*252T>G (n.*252T>G) c.1427T>G (p.Val476Gly) c.276+16609A>C (n.276+16609A>C) c.*220+5935T>G (n.*220+5935T>G) c.551T>G (p.Val184Gly) c.578T>G (p.Val193Gly) c.1433T>G (p.Val478Gly) c.1247T>G (p.Val416Gly) c.1166T>G (p.Val389Gly) c.872T>G (p.Val291Gly) c.1253T>G (p.Val418Gly) | |
2 | g.48688289A>G | CA346746631 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1508T>C (p.Val503Ala) c.948-150T>C (n.948-150T>C) c.3441+16609A>G (n.3441+16609A>G) c.*252T>C (n.*252T>C) c.1427T>C (p.Val476Ala) c.276+16609A>G (n.276+16609A>G) c.*220+5935T>C (n.*220+5935T>C) c.551T>C (p.Val184Ala) c.578T>C (p.Val193Ala) c.1433T>C (p.Val478Ala) c.1247T>C (p.Val416Ala) c.1166T>C (p.Val389Ala) c.872T>C (p.Val291Ala) c.1253T>C (p.Val418Ala) | |
2 | g.48688289A>T | CA346746632 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1508T>A (p.Val503Asp) c.948-150T>A (n.948-150T>A) c.3441+16609A>T (n.3441+16609A>T) c.*252T>A (n.*252T>A) c.1427T>A (p.Val476Asp) c.276+16609A>T (n.276+16609A>T) c.*220+5935T>A (n.*220+5935T>A) c.551T>A (p.Val184Asp) c.578T>A (p.Val193Asp) c.1433T>A (p.Val478Asp) c.1247T>A (p.Val416Asp) c.1166T>A (p.Val389Asp) c.872T>A (p.Val291Asp) c.1253T>A (p.Val418Asp) | |
2 | g.48688290del | CA2658992084 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1507del (p.Val503SerfsTer7) c.948-151del (n.948-151del) c.3441+16610del (n.3441+16610del) c.*251del (n.*251del) c.1426del (p.Val476SerfsTer7) c.276+16610del (n.276+16610del) c.*220+5934del (n.*220+5934del) c.550del (p.Val184SerfsTer7) c.577del (p.Val193SerfsTer7) c.1432del (p.Val478SerfsTer7) c.1246del (p.Val416SerfsTer7) c.1165del (p.Val389SerfsTer7) c.871del (p.Val291SerfsTer7) c.1252del (p.Val418SerfsTer7) | gnomAD v4 |
2 | g.48688290C>A | CA346746635 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1507G>T (p.Val503Phe) c.948-151G>T (n.948-151G>T) c.3441+16610C>A (n.3441+16610C>A) c.*251G>T (n.*251G>T) c.1426G>T (p.Val476Phe) c.276+16610C>A (n.276+16610C>A) c.*220+5934G>T (n.*220+5934G>T) c.550G>T (p.Val184Phe) c.577G>T (p.Val193Phe) c.1432G>T (p.Val478Phe) c.1246G>T (p.Val416Phe) c.1165G>T (p.Val389Phe) c.871G>T (p.Val291Phe) c.1252G>T (p.Val418Phe) | dbSNP |
2 | g.48688290C= | CA1248601064 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1507G= (p.Val503=) c.948-151G= (n.948-151G=) c.3441+16610C= (n.3441+16610C=) c.*251G= (n.*251G=) c.1426G= (p.Val476=) c.276+16610C= (n.276+16610C=) c.*220+5934G= (n.*220+5934G=) c.550G= (p.Val184=) c.577G= (p.Val193=) c.1432G= (p.Val478=) c.1246G= (p.Val416=) c.1165G= (p.Val389=) c.871G= (p.Val291=) c.1252G= (p.Val418=) | |
2 | g.48688290C>G | CA346746636 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1507G>C (p.Val503Leu) c.948-151G>C (n.948-151G>C) c.3441+16610C>G (n.3441+16610C>G) c.*251G>C (n.*251G>C) c.1426G>C (p.Val476Leu) c.276+16610C>G (n.276+16610C>G) c.*220+5934G>C (n.*220+5934G>C) c.550G>C (p.Val184Leu) c.577G>C (p.Val193Leu) c.1432G>C (p.Val478Leu) c.1246G>C (p.Val416Leu) c.1165G>C (p.Val389Leu) c.871G>C (p.Val291Leu) c.1252G>C (p.Val418Leu) | |
2 | g.48688290C>T | CA346746637 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1507G>A (p.Val503Ile) c.948-151G>A (n.948-151G>A) c.3441+16610C>T (n.3441+16610C>T) c.*251G>A (n.*251G>A) c.1426G>A (p.Val476Ile) c.276+16610C>T (n.276+16610C>T) c.*220+5934G>A (n.*220+5934G>A) c.550G>A (p.Val184Ile) c.577G>A (p.Val193Ile) c.1432G>A (p.Val478Ile) c.1246G>A (p.Val416Ile) c.1165G>A (p.Val389Ile) c.871G>A (p.Val291Ile) c.1252G>A (p.Val418Ile) | |
2 | g.48688291A>C | CA426124970 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1506T>G (p.Leu502=) c.948-152T>G (n.948-152T>G) c.3441+16611A>C (n.3441+16611A>C) c.*250T>G (n.*250T>G) c.1425T>G (p.Leu475=) c.276+16611A>C (n.276+16611A>C) c.*220+5933T>G (n.*220+5933T>G) c.549T>G (p.Leu183=) c.576T>G (p.Leu192=) c.1431T>G (p.Leu477=) c.1245T>G (p.Leu415=) c.1164T>G (p.Leu388=) c.870T>G (p.Leu290=) c.1251T>G (p.Leu417=) | |
2 | g.48688291A>G | CA426124972 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1506T>C (p.Leu502=) c.948-152T>C (n.948-152T>C) c.3441+16611A>G (n.3441+16611A>G) c.*250T>C (n.*250T>C) c.1425T>C (p.Leu475=) c.276+16611A>G (n.276+16611A>G) c.*220+5933T>C (n.*220+5933T>C) c.549T>C (p.Leu183=) c.576T>C (p.Leu192=) c.1431T>C (p.Leu477=) c.1245T>C (p.Leu415=) c.1164T>C (p.Leu388=) c.870T>C (p.Leu290=) c.1251T>C (p.Leu417=) | gnomAD v4 |
2 | g.48688291A>T | CA426124971 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1506T>A (p.Leu502=) c.948-152T>A (n.948-152T>A) c.3441+16611A>T (n.3441+16611A>T) c.*250T>A (n.*250T>A) c.1425T>A (p.Leu475=) c.276+16611A>T (n.276+16611A>T) c.*220+5933T>A (n.*220+5933T>A) c.549T>A (p.Leu183=) c.576T>A (p.Leu192=) c.1431T>A (p.Leu477=) c.1245T>A (p.Leu415=) c.1164T>A (p.Leu388=) c.870T>A (p.Leu290=) c.1251T>A (p.Leu417=) | |
2 | g.48688292A= | CA1248601065 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1505T= (p.Leu502=) c.948-153T= (n.948-153T=) c.3441+16612A= (n.3441+16612A=) c.*249T= (n.*249T=) c.1424T= (p.Leu475=) c.276+16612A= (n.276+16612A=) c.*220+5932T= (n.*220+5932T=) c.548T= (p.Leu183=) c.575T= (p.Leu192=) c.1430T= (p.Leu477=) c.1244T= (p.Leu415=) c.1163T= (p.Leu388=) c.869T= (p.Leu290=) c.1250T= (p.Leu417=) | |
2 | g.48688292A>C | CA346746638 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1505T>G (p.Leu502Arg) c.948-153T>G (n.948-153T>G) c.3441+16612A>C (n.3441+16612A>C) c.*249T>G (n.*249T>G) c.1424T>G (p.Leu475Arg) c.276+16612A>C (n.276+16612A>C) c.*220+5932T>G (n.*220+5932T>G) c.548T>G (p.Leu183Arg) c.575T>G (p.Leu192Arg) c.1430T>G (p.Leu477Arg) c.1244T>G (p.Leu415Arg) c.1163T>G (p.Leu388Arg) c.869T>G (p.Leu290Arg) c.1250T>G (p.Leu417Arg) | |
2 | g.48688292A>G | CA250650 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1505T>C (p.Leu502Pro) c.948-153T>C (n.948-153T>C) c.3441+16612A>G (n.3441+16612A>G) c.*249T>C (n.*249T>C) c.1424T>C (p.Leu475Pro) c.276+16612A>G (n.276+16612A>G) c.*220+5932T>C (n.*220+5932T>C) c.548T>C (p.Leu183Pro) c.575T>C (p.Leu192Pro) c.1430T>C (p.Leu477Pro) c.1244T>C (p.Leu415Pro) c.1163T>C (p.Leu388Pro) c.869T>C (p.Leu290Pro) c.1250T>C (p.Leu417Pro) | ClinVar dbSNP |
2 | g.48688292A>T | CA346746639 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1505T>A (p.Leu502His) c.948-153T>A (n.948-153T>A) c.3441+16612A>T (n.3441+16612A>T) c.*249T>A (n.*249T>A) c.1424T>A (p.Leu475His) c.276+16612A>T (n.276+16612A>T) c.*220+5932T>A (n.*220+5932T>A) c.548T>A (p.Leu183His) c.575T>A (p.Leu192His) c.1430T>A (p.Leu477His) c.1244T>A (p.Leu415His) c.1163T>A (p.Leu388His) c.869T>A (p.Leu290His) c.1250T>A (p.Leu417His) | |
2 | g.48688293G>A | CA346746642 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1504C>T (p.Leu502Phe) c.948-154C>T (n.948-154C>T) c.3441+16613G>A (n.3441+16613G>A) c.*248C>T (n.*248C>T) c.1423C>T (p.Leu475Phe) c.276+16613G>A (n.276+16613G>A) c.*220+5931C>T (n.*220+5931C>T) c.547C>T (p.Leu183Phe) c.574C>T (p.Leu192Phe) c.1429C>T (p.Leu477Phe) c.1243C>T (p.Leu415Phe) c.1162C>T (p.Leu388Phe) c.868C>T (p.Leu290Phe) c.1249C>T (p.Leu417Phe) | |
2 | g.48688293G>C | CA346746645 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1504C>G (p.Leu502Val) c.948-154C>G (n.948-154C>G) c.3441+16613G>C (n.3441+16613G>C) c.*248C>G (n.*248C>G) c.1423C>G (p.Leu475Val) c.276+16613G>C (n.276+16613G>C) c.*220+5931C>G (n.*220+5931C>G) c.547C>G (p.Leu183Val) c.574C>G (p.Leu192Val) c.1429C>G (p.Leu477Val) c.1243C>G (p.Leu415Val) c.1162C>G (p.Leu388Val) c.868C>G (p.Leu290Val) c.1249C>G (p.Leu417Val) | |
2 | g.48688293G= | CA1248601066 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1504C= (p.Leu502=) c.948-154C= (n.948-154C=) c.3441+16613G= (n.3441+16613G=) c.*248C= (n.*248C=) c.1423C= (p.Leu475=) c.276+16613G= (n.276+16613G=) c.*220+5931C= (n.*220+5931C=) c.547C= (p.Leu183=) c.574C= (p.Leu192=) c.1429C= (p.Leu477=) c.1243C= (p.Leu415=) c.1162C= (p.Leu388=) c.868C= (p.Leu290=) c.1249C= (p.Leu417=) | |
2 | g.48688293G>T | CA346746650 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1504C>A (p.Leu502Ile) c.948-154C>A (n.948-154C>A) c.3441+16613G>T (n.3441+16613G>T) c.*248C>A (n.*248C>A) c.1423C>A (p.Leu475Ile) c.276+16613G>T (n.276+16613G>T) c.*220+5931C>A (n.*220+5931C>A) c.547C>A (p.Leu183Ile) c.574C>A (p.Leu192Ile) c.1429C>A (p.Leu477Ile) c.1243C>A (p.Leu415Ile) c.1162C>A (p.Leu388Ile) c.868C>A (p.Leu290Ile) c.1249C>A (p.Leu417Ile) | dbSNP |
2 | g.48688294G>A | CA426124978 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1503C>T (p.Pro501=) c.948-155C>T (n.948-155C>T) c.3441+16614G>A (n.3441+16614G>A) c.*247C>T (n.*247C>T) c.1422C>T (p.Pro474=) c.276+16614G>A (n.276+16614G>A) c.*220+5930C>T (n.*220+5930C>T) c.546C>T (p.Pro182=) c.573C>T (p.Pro191=) c.1428C>T (p.Pro476=) c.1242C>T (p.Pro414=) c.1161C>T (p.Pro387=) c.867C>T (p.Pro289=) c.1248C>T (p.Pro416=) | gnomAD v4 COSMIC |
2 | g.48688294G>C | CA426124979 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1503C>G (p.Pro501=) c.948-155C>G (n.948-155C>G) c.3441+16614G>C (n.3441+16614G>C) c.*247C>G (n.*247C>G) c.1422C>G (p.Pro474=) c.276+16614G>C (n.276+16614G>C) c.*220+5930C>G (n.*220+5930C>G) c.546C>G (p.Pro182=) c.573C>G (p.Pro191=) c.1428C>G (p.Pro476=) c.1242C>G (p.Pro414=) c.1161C>G (p.Pro387=) c.867C>G (p.Pro289=) c.1248C>G (p.Pro416=) | |
2 | g.48688294G>T | CA426124980 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1503C>A (p.Pro501=) c.948-155C>A (n.948-155C>A) c.3441+16614G>T (n.3441+16614G>T) c.*247C>A (n.*247C>A) c.1422C>A (p.Pro474=) c.276+16614G>T (n.276+16614G>T) c.*220+5930C>A (n.*220+5930C>A) c.546C>A (p.Pro182=) c.573C>A (p.Pro191=) c.1428C>A (p.Pro476=) c.1242C>A (p.Pro414=) c.1161C>A (p.Pro387=) c.867C>A (p.Pro289=) c.1248C>A (p.Pro416=) | |
2 | g.48688295G>A | CA346746652 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1502C>T (p.Pro501Leu) c.948-156C>T (n.948-156C>T) c.3441+16615G>A (n.3441+16615G>A) c.*246C>T (n.*246C>T) c.1421C>T (p.Pro474Leu) c.276+16615G>A (n.276+16615G>A) c.*220+5929C>T (n.*220+5929C>T) c.545C>T (p.Pro182Leu) c.572C>T (p.Pro191Leu) c.1427C>T (p.Pro476Leu) c.1241C>T (p.Pro414Leu) c.1160C>T (p.Pro387Leu) c.866C>T (p.Pro289Leu) c.1247C>T (p.Pro416Leu) | |
2 | g.48688295G>C | CA346746653 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1502C>G (p.Pro501Arg) c.948-156C>G (n.948-156C>G) c.3441+16615G>C (n.3441+16615G>C) c.*246C>G (n.*246C>G) c.1421C>G (p.Pro474Arg) c.276+16615G>C (n.276+16615G>C) c.*220+5929C>G (n.*220+5929C>G) c.545C>G (p.Pro182Arg) c.572C>G (p.Pro191Arg) c.1427C>G (p.Pro476Arg) c.1241C>G (p.Pro414Arg) c.1160C>G (p.Pro387Arg) c.866C>G (p.Pro289Arg) c.1247C>G (p.Pro416Arg) | |
2 | g.48688295G= | CA1248601067 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1502C= (p.Pro501=) c.948-156C= (n.948-156C=) c.3441+16615G= (n.3441+16615G=) c.*246C= (n.*246C=) c.1421C= (p.Pro474=) c.276+16615G= (n.276+16615G=) c.*220+5929C= (n.*220+5929C=) c.545C= (p.Pro182=) c.572C= (p.Pro191=) c.1427C= (p.Pro476=) c.1241C= (p.Pro414=) c.1160C= (p.Pro387=) c.866C= (p.Pro289=) c.1247C= (p.Pro416=) | |
2 | g.48688295G>T | CA346746656 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1502C>A (p.Pro501His) c.948-156C>A (n.948-156C>A) c.3441+16615G>T (n.3441+16615G>T) c.*246C>A (n.*246C>A) c.1421C>A (p.Pro474His) c.276+16615G>T (n.276+16615G>T) c.*220+5929C>A (n.*220+5929C>A) c.545C>A (p.Pro182His) c.572C>A (p.Pro191His) c.1427C>A (p.Pro476His) c.1241C>A (p.Pro414His) c.1160C>A (p.Pro387His) c.866C>A (p.Pro289His) c.1247C>A (p.Pro416His) | dbSNP |
2 | g.48688296G>A | CA346746658 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1501C>T (p.Pro501Ser) c.948-157C>T (n.948-157C>T) c.3441+16616G>A (n.3441+16616G>A) c.*245C>T (n.*245C>T) c.1420C>T (p.Pro474Ser) c.276+16616G>A (n.276+16616G>A) c.*220+5928C>T (n.*220+5928C>T) c.544C>T (p.Pro182Ser) c.571C>T (p.Pro191Ser) c.1426C>T (p.Pro476Ser) c.1240C>T (p.Pro414Ser) c.1159C>T (p.Pro387Ser) c.865C>T (p.Pro289Ser) c.1246C>T (p.Pro416Ser) | |
2 | g.48688296G>C | CA346746661 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1501C>G (p.Pro501Ala) c.948-157C>G (n.948-157C>G) c.3441+16616G>C (n.3441+16616G>C) c.*245C>G (n.*245C>G) c.1420C>G (p.Pro474Ala) c.276+16616G>C (n.276+16616G>C) c.*220+5928C>G (n.*220+5928C>G) c.544C>G (p.Pro182Ala) c.571C>G (p.Pro191Ala) c.1426C>G (p.Pro476Ala) c.1240C>G (p.Pro414Ala) c.1159C>G (p.Pro387Ala) c.865C>G (p.Pro289Ala) c.1246C>G (p.Pro416Ala) | |
2 | g.48688296G>T | CA346746664 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1501C>A (p.Pro501Thr) c.948-157C>A (n.948-157C>A) c.3441+16616G>T (n.3441+16616G>T) c.*245C>A (n.*245C>A) c.1420C>A (p.Pro474Thr) c.276+16616G>T (n.276+16616G>T) c.*220+5928C>A (n.*220+5928C>A) c.544C>A (p.Pro182Thr) c.571C>A (p.Pro191Thr) c.1426C>A (p.Pro476Thr) c.1240C>A (p.Pro414Thr) c.1159C>A (p.Pro387Thr) c.865C>A (p.Pro289Thr) c.1246C>A (p.Pro416Thr) | |
2 | g.48688297C>A | CA46752947 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1500G>T (p.Leu500Phe) c.948-158G>T (n.948-158G>T) c.3441+16617C>A (n.3441+16617C>A) c.*244G>T (n.*244G>T) c.1419G>T (p.Leu473Phe) c.276+16617C>A (n.276+16617C>A) c.*220+5927G>T (n.*220+5927G>T) c.543G>T (p.Leu181Phe) c.570G>T (p.Leu190Phe) c.1425G>T (p.Leu475Phe) c.1239G>T (p.Leu413Phe) c.1158G>T (p.Leu386Phe) c.864G>T (p.Leu288Phe) c.1245G>T (p.Leu415Phe) | dbSNP gnomAD v4 |
2 | g.48688297C= | CA1248601068 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1500G= (p.Leu500=) c.948-158G= (n.948-158G=) c.3441+16617C= (n.3441+16617C=) c.*244G= (n.*244G=) c.1419G= (p.Leu473=) c.276+16617C= (n.276+16617C=) c.*220+5927G= (n.*220+5927G=) c.543G= (p.Leu181=) c.570G= (p.Leu190=) c.1425G= (p.Leu475=) c.1239G= (p.Leu413=) c.1158G= (p.Leu386=) c.864G= (p.Leu288=) c.1245G= (p.Leu415=) | |
2 | g.48688297C>G | CA346746667 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1500G>C (p.Leu500Phe) c.948-158G>C (n.948-158G>C) c.3441+16617C>G (n.3441+16617C>G) c.*244G>C (n.*244G>C) c.1419G>C (p.Leu473Phe) c.276+16617C>G (n.276+16617C>G) c.*220+5927G>C (n.*220+5927G>C) c.543G>C (p.Leu181Phe) c.570G>C (p.Leu190Phe) c.1425G>C (p.Leu475Phe) c.1239G>C (p.Leu413Phe) c.1158G>C (p.Leu386Phe) c.864G>C (p.Leu288Phe) c.1245G>C (p.Leu415Phe) | |
2 | g.48688297C>T | CA426124982 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1500G>A (p.Leu500=) c.948-158G>A (n.948-158G>A) c.3441+16617C>T (n.3441+16617C>T) c.*244G>A (n.*244G>A) c.1419G>A (p.Leu473=) c.276+16617C>T (n.276+16617C>T) c.*220+5927G>A (n.*220+5927G>A) c.543G>A (p.Leu181=) c.570G>A (p.Leu190=) c.1425G>A (p.Leu475=) c.1239G>A (p.Leu413=) c.1158G>A (p.Leu386=) c.864G>A (p.Leu288=) c.1245G>A (p.Leu415=) | |
2 | g.48688298A>C | CA346746672 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1499T>G (p.Leu500Trp) c.948-159T>G (n.948-159T>G) c.3441+16618A>C (n.3441+16618A>C) c.*243T>G (n.*243T>G) c.1418T>G (p.Leu473Trp) c.276+16618A>C (n.276+16618A>C) c.*220+5926T>G (n.*220+5926T>G) c.542T>G (p.Leu181Trp) c.569T>G (p.Leu190Trp) c.1424T>G (p.Leu475Trp) c.1238T>G (p.Leu413Trp) c.1157T>G (p.Leu386Trp) c.863T>G (p.Leu288Trp) c.1244T>G (p.Leu415Trp) | |
2 | g.48688298A>G | CA346746675 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1499T>C (p.Leu500Ser) c.948-159T>C (n.948-159T>C) c.3441+16618A>G (n.3441+16618A>G) c.*243T>C (n.*243T>C) c.1418T>C (p.Leu473Ser) c.276+16618A>G (n.276+16618A>G) c.*220+5926T>C (n.*220+5926T>C) c.542T>C (p.Leu181Ser) c.569T>C (p.Leu190Ser) c.1424T>C (p.Leu475Ser) c.1238T>C (p.Leu413Ser) c.1157T>C (p.Leu386Ser) c.863T>C (p.Leu288Ser) c.1244T>C (p.Leu415Ser) | gnomAD v4 |
2 | g.48688298A>T | CA346746677 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1499T>A (p.Leu500Ter) c.948-159T>A (n.948-159T>A) c.3441+16618A>T (n.3441+16618A>T) c.*243T>A (n.*243T>A) c.1418T>A (p.Leu473Ter) c.276+16618A>T (n.276+16618A>T) c.*220+5926T>A (n.*220+5926T>A) c.542T>A (p.Leu181Ter) c.569T>A (p.Leu190Ter) c.1424T>A (p.Leu475Ter) c.1238T>A (p.Leu413Ter) c.1157T>A (p.Leu386Ter) c.863T>A (p.Leu288Ter) c.1244T>A (p.Leu415Ter) | |
2 | g.48688299A= | CA1248601069 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1498T= (p.Leu500=) c.948-160T= (n.948-160T=) c.3441+16619A= (n.3441+16619A=) c.*242T= (n.*242T=) c.1417T= (p.Leu473=) c.276+16619A= (n.276+16619A=) c.*220+5925T= (n.*220+5925T=) c.541T= (p.Leu181=) c.568T= (p.Leu190=) c.1423T= (p.Leu475=) c.1237T= (p.Leu413=) c.1156T= (p.Leu386=) c.862T= (p.Leu288=) c.1243T= (p.Leu415=) | |
2 | g.48688299A>C | CA346746679 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1498T>G (p.Leu500Val) c.948-160T>G (n.948-160T>G) c.3441+16619A>C (n.3441+16619A>C) c.*242T>G (n.*242T>G) c.1417T>G (p.Leu473Val) c.276+16619A>C (n.276+16619A>C) c.*220+5925T>G (n.*220+5925T>G) c.541T>G (p.Leu181Val) c.568T>G (p.Leu190Val) c.1423T>G (p.Leu475Val) c.1237T>G (p.Leu413Val) c.1156T>G (p.Leu386Val) c.862T>G (p.Leu288Val) c.1243T>G (p.Leu415Val) | |
2 | g.48688299A>G | CA426124985 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1498T>C (p.Leu500=) c.948-160T>C (n.948-160T>C) c.3441+16619A>G (n.3441+16619A>G) c.*242T>C (n.*242T>C) c.1417T>C (p.Leu473=) c.276+16619A>G (n.276+16619A>G) c.*220+5925T>C (n.*220+5925T>C) c.541T>C (p.Leu181=) c.568T>C (p.Leu190=) c.1423T>C (p.Leu475=) c.1237T>C (p.Leu413=) c.1156T>C (p.Leu386=) c.862T>C (p.Leu288=) c.1243T>C (p.Leu415=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48688299A>T | CA346746680 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1498T>A (p.Leu500Met) c.948-160T>A (n.948-160T>A) c.3441+16619A>T (n.3441+16619A>T) c.*242T>A (n.*242T>A) c.1417T>A (p.Leu473Met) c.276+16619A>T (n.276+16619A>T) c.*220+5925T>A (n.*220+5925T>A) c.541T>A (p.Leu181Met) c.568T>A (p.Leu190Met) c.1423T>A (p.Leu475Met) c.1237T>A (p.Leu413Met) c.1156T>A (p.Leu386Met) c.862T>A (p.Leu288Met) c.1243T>A (p.Leu415Met) | |
2 | g.48688300C>A | CA346746682 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1497G>T (p.Met499Ile) c.948-161G>T (n.948-161G>T) c.3441+16620C>A (n.3441+16620C>A) c.*241G>T (n.*241G>T) c.1416G>T (p.Met472Ile) c.276+16620C>A (n.276+16620C>A) c.*220+5924G>T (n.*220+5924G>T) c.540G>T (p.Met180Ile) c.567G>T (p.Met189Ile) c.1422G>T (p.Met474Ile) c.1236G>T (p.Met412Ile) c.1155G>T (p.Met385Ile) c.861G>T (p.Met287Ile) c.1242G>T (p.Met414Ile) | gnomAD v4 |
2 | g.48688300C>G | CA346746684 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1497G>C (p.Met499Ile) c.948-161G>C (n.948-161G>C) c.3441+16620C>G (n.3441+16620C>G) c.*241G>C (n.*241G>C) c.1416G>C (p.Met472Ile) c.276+16620C>G (n.276+16620C>G) c.*220+5924G>C (n.*220+5924G>C) c.540G>C (p.Met180Ile) c.567G>C (p.Met189Ile) c.1422G>C (p.Met474Ile) c.1236G>C (p.Met412Ile) c.1155G>C (p.Met385Ile) c.861G>C (p.Met287Ile) c.1242G>C (p.Met414Ile) | |
2 | g.48688300C>T | CA346746687 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1497G>A (p.Met499Ile) c.948-161G>A (n.948-161G>A) c.3441+16620C>T (n.3441+16620C>T) c.*241G>A (n.*241G>A) c.1416G>A (p.Met472Ile) c.276+16620C>T (n.276+16620C>T) c.*220+5924G>A (n.*220+5924G>A) c.540G>A (p.Met180Ile) c.567G>A (p.Met189Ile) c.1422G>A (p.Met474Ile) c.1236G>A (p.Met412Ile) c.1155G>A (p.Met385Ile) c.861G>A (p.Met287Ile) c.1242G>A (p.Met414Ile) | |
2 | g.48688301A>C | CA346746689 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1496T>G (p.Met499Arg) c.948-162T>G (n.948-162T>G) c.3441+16621A>C (n.3441+16621A>C) c.*240T>G (n.*240T>G) c.1415T>G (p.Met472Arg) c.276+16621A>C (n.276+16621A>C) c.*220+5923T>G (n.*220+5923T>G) c.539T>G (p.Met180Arg) c.566T>G (p.Met189Arg) c.1421T>G (p.Met474Arg) c.1235T>G (p.Met412Arg) c.1154T>G (p.Met385Arg) c.860T>G (p.Met287Arg) c.1241T>G (p.Met414Arg) | |
2 | g.48688301A>G | CA346746691 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1496T>C (p.Met499Thr) c.948-162T>C (n.948-162T>C) c.3441+16621A>G (n.3441+16621A>G) c.*240T>C (n.*240T>C) c.1415T>C (p.Met472Thr) c.276+16621A>G (n.276+16621A>G) c.*220+5923T>C (n.*220+5923T>C) c.539T>C (p.Met180Thr) c.566T>C (p.Met189Thr) c.1421T>C (p.Met474Thr) c.1235T>C (p.Met412Thr) c.1154T>C (p.Met385Thr) c.860T>C (p.Met287Thr) c.1241T>C (p.Met414Thr) | |
2 | g.48688301A>T | CA346746693 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1496T>A (p.Met499Lys) c.948-162T>A (n.948-162T>A) c.3441+16621A>T (n.3441+16621A>T) c.*240T>A (n.*240T>A) c.1415T>A (p.Met472Lys) c.276+16621A>T (n.276+16621A>T) c.*220+5923T>A (n.*220+5923T>A) c.539T>A (p.Met180Lys) c.566T>A (p.Met189Lys) c.1421T>A (p.Met474Lys) c.1235T>A (p.Met412Lys) c.1154T>A (p.Met385Lys) c.860T>A (p.Met287Lys) c.1241T>A (p.Met414Lys) | |
2 | g.48688302T>A | CA346746700 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1495A>T (p.Met499Leu) c.948-163A>T (n.948-163A>T) c.3441+16622T>A (n.3441+16622T>A) c.*239A>T (n.*239A>T) c.1414A>T (p.Met472Leu) c.276+16622T>A (n.276+16622T>A) c.*220+5922A>T (n.*220+5922A>T) c.538A>T (p.Met180Leu) c.565A>T (p.Met189Leu) c.1420A>T (p.Met474Leu) c.1234A>T (p.Met412Leu) c.1153A>T (p.Met385Leu) c.859A>T (p.Met287Leu) c.1240A>T (p.Met414Leu) | |
2 | g.48688302T>C | CA346746698 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1495A>G (p.Met499Val) c.948-163A>G (n.948-163A>G) c.3441+16622T>C (n.3441+16622T>C) c.*239A>G (n.*239A>G) c.1414A>G (p.Met472Val) c.276+16622T>C (n.276+16622T>C) c.*220+5922A>G (n.*220+5922A>G) c.538A>G (p.Met180Val) c.565A>G (p.Met189Val) c.1420A>G (p.Met474Val) c.1234A>G (p.Met412Val) c.1153A>G (p.Met385Val) c.859A>G (p.Met287Val) c.1240A>G (p.Met414Val) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48688302T>G | CA346746696 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1495A>C (p.Met499Leu) c.948-163A>C (n.948-163A>C) c.3441+16622T>G (n.3441+16622T>G) c.*239A>C (n.*239A>C) c.1414A>C (p.Met472Leu) c.276+16622T>G (n.276+16622T>G) c.*220+5922A>C (n.*220+5922A>C) c.538A>C (p.Met180Leu) c.565A>C (p.Met189Leu) c.1420A>C (p.Met474Leu) c.1234A>C (p.Met412Leu) c.1153A>C (p.Met385Leu) c.859A>C (p.Met287Leu) c.1240A>C (p.Met414Leu) | |
2 | g.48688302T= | CA1248601070 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1495A= (p.Met499=) c.948-163A= (n.948-163A=) c.3441+16622T= (n.3441+16622T=) c.*239A= (n.*239A=) c.1414A= (p.Met472=) c.276+16622T= (n.276+16622T=) c.*220+5922A= (n.*220+5922A=) c.538A= (p.Met180=) c.565A= (p.Met189=) c.1420A= (p.Met474=) c.1234A= (p.Met412=) c.1153A= (p.Met385=) c.859A= (p.Met287=) c.1240A= (p.Met414=) | |
2 | g.48688302_48688303insC | CA1248601071 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1494_1495insG (p.Met499AspfsTer?) c.948-164_948-163insG (n.948-164_948-163insG) c.3441+16622_3441+16623insC (n.3441+16622_3441+16623insC) c.*238_*239insG (n.*238_*239insG) c.1413_1414insG (p.Met472AspfsTer?) c.276+16622_276+16623insC (n.276+16622_276+16623insC) c.*220+5921_*220+5922insG (n.*220+5921_*220+5922insG) c.537_538insG (p.Met180AspfsTer?) c.564_565insG (p.Met189AspfsTer?) c.1419_1420insG (p.Met474AspfsTer?) c.1233_1234insG (p.Met412AspfsTer?) c.1152_1153insG (p.Met385AspfsTer?) c.858_859insG (p.Met287AspfsTer?) c.1239_1240insG (p.Met414AspfsTer?) | dbSNP |
2 | g.48688303A>C | CA426124988 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1494T>G (p.Ala498=) c.948-164T>G (n.948-164T>G) c.3441+16623A>C (n.3441+16623A>C) c.*238T>G (n.*238T>G) c.1413T>G (p.Ala471=) c.276+16623A>C (n.276+16623A>C) c.*220+5921T>G (n.*220+5921T>G) c.537T>G (p.Ala179=) c.564T>G (p.Ala188=) c.1419T>G (p.Ala473=) c.1233T>G (p.Ala411=) c.1152T>G (p.Ala384=) c.858T>G (p.Ala286=) c.1239T>G (p.Ala413=) | |
2 | g.48688303A>G | CA426124986 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1494T>C (p.Ala498=) c.948-164T>C (n.948-164T>C) c.3441+16623A>G (n.3441+16623A>G) c.*238T>C (n.*238T>C) c.1413T>C (p.Ala471=) c.276+16623A>G (n.276+16623A>G) c.*220+5921T>C (n.*220+5921T>C) c.537T>C (p.Ala179=) c.564T>C (p.Ala188=) c.1419T>C (p.Ala473=) c.1233T>C (p.Ala411=) c.1152T>C (p.Ala384=) c.858T>C (p.Ala286=) c.1239T>C (p.Ala413=) | gnomAD v4 |
2 | g.48688303A>T | CA426124987 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1494T>A (p.Ala498=) c.948-164T>A (n.948-164T>A) c.3441+16623A>T (n.3441+16623A>T) c.*238T>A (n.*238T>A) c.1413T>A (p.Ala471=) c.276+16623A>T (n.276+16623A>T) c.*220+5921T>A (n.*220+5921T>A) c.537T>A (p.Ala179=) c.564T>A (p.Ala188=) c.1419T>A (p.Ala473=) c.1233T>A (p.Ala411=) c.1152T>A (p.Ala384=) c.858T>A (p.Ala286=) c.1239T>A (p.Ala413=) | |
2 | g.48688304G>A | CA346746703 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1493C>T (p.Ala498Val) c.948-165C>T (n.948-165C>T) c.3441+16624G>A (n.3441+16624G>A) c.*237C>T (n.*237C>T) c.1412C>T (p.Ala471Val) c.276+16624G>A (n.276+16624G>A) c.*220+5920C>T (n.*220+5920C>T) c.536C>T (p.Ala179Val) c.563C>T (p.Ala188Val) c.1418C>T (p.Ala473Val) c.1232C>T (p.Ala411Val) c.1151C>T (p.Ala384Val) c.857C>T (p.Ala286Val) c.1238C>T (p.Ala413Val) | dbSNP gnomAD v2 |
2 | g.48688304G>C | CA346746709 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1493C>G (p.Ala498Gly) c.948-165C>G (n.948-165C>G) c.3441+16624G>C (n.3441+16624G>C) c.*237C>G (n.*237C>G) c.1412C>G (p.Ala471Gly) c.276+16624G>C (n.276+16624G>C) c.*220+5920C>G (n.*220+5920C>G) c.536C>G (p.Ala179Gly) c.563C>G (p.Ala188Gly) c.1418C>G (p.Ala473Gly) c.1232C>G (p.Ala411Gly) c.1151C>G (p.Ala384Gly) c.857C>G (p.Ala286Gly) c.1238C>G (p.Ala413Gly) | dbSNP |
2 | g.48688304G= | CA1248601072 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1493C= (p.Ala498=) c.948-165C= (n.948-165C=) c.3441+16624G= (n.3441+16624G=) c.*237C= (n.*237C=) c.1412C= (p.Ala471=) c.276+16624G= (n.276+16624G=) c.*220+5920C= (n.*220+5920C=) c.536C= (p.Ala179=) c.563C= (p.Ala188=) c.1418C= (p.Ala473=) c.1232C= (p.Ala411=) c.1151C= (p.Ala384=) c.857C= (p.Ala286=) c.1238C= (p.Ala413=) | |
2 | g.48688304G>T | CA346746711 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1493C>A (p.Ala498Asp) c.948-165C>A (n.948-165C>A) c.3441+16624G>T (n.3441+16624G>T) c.*237C>A (n.*237C>A) c.1412C>A (p.Ala471Asp) c.276+16624G>T (n.276+16624G>T) c.*220+5920C>A (n.*220+5920C>A) c.536C>A (p.Ala179Asp) c.563C>A (p.Ala188Asp) c.1418C>A (p.Ala473Asp) c.1232C>A (p.Ala411Asp) c.1151C>A (p.Ala384Asp) c.857C>A (p.Ala286Asp) c.1238C>A (p.Ala413Asp) | |
2 | g.48688305C>A | CA346746714 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1492G>T (p.Ala498Ser) c.948-166G>T (n.948-166G>T) c.3441+16625C>A (n.3441+16625C>A) c.*236G>T (n.*236G>T) c.1411G>T (p.Ala471Ser) c.276+16625C>A (n.276+16625C>A) c.*220+5919G>T (n.*220+5919G>T) c.535G>T (p.Ala179Ser) c.562G>T (p.Ala188Ser) c.1417G>T (p.Ala473Ser) c.1231G>T (p.Ala411Ser) c.1150G>T (p.Ala384Ser) c.856G>T (p.Ala286Ser) c.1237G>T (p.Ala413Ser) | |
2 | g.48688305C>G | CA346746717 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1492G>C (p.Ala498Pro) c.948-166G>C (n.948-166G>C) c.3441+16625C>G (n.3441+16625C>G) c.*236G>C (n.*236G>C) c.1411G>C (p.Ala471Pro) c.276+16625C>G (n.276+16625C>G) c.*220+5919G>C (n.*220+5919G>C) c.535G>C (p.Ala179Pro) c.562G>C (p.Ala188Pro) c.1417G>C (p.Ala473Pro) c.1231G>C (p.Ala411Pro) c.1150G>C (p.Ala384Pro) c.856G>C (p.Ala286Pro) c.1237G>C (p.Ala413Pro) | |
2 | g.48688305C>T | CA346746720 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1492G>A (p.Ala498Thr) c.948-166G>A (n.948-166G>A) c.3441+16625C>T (n.3441+16625C>T) c.*236G>A (n.*236G>A) c.1411G>A (p.Ala471Thr) c.276+16625C>T (n.276+16625C>T) c.*220+5919G>A (n.*220+5919G>A) c.535G>A (p.Ala179Thr) c.562G>A (p.Ala188Thr) c.1417G>A (p.Ala473Thr) c.1231G>A (p.Ala411Thr) c.1150G>A (p.Ala384Thr) c.856G>A (p.Ala286Thr) c.1237G>A (p.Ala413Thr) | |
2 | g.48688306A>C | CA346746721 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1491T>G (p.Ile497Met) c.948-167T>G (n.948-167T>G) c.3441+16626A>C (n.3441+16626A>C) c.*235T>G (n.*235T>G) c.1410T>G (p.Ile470Met) c.276+16626A>C (n.276+16626A>C) c.*220+5918T>G (n.*220+5918T>G) c.534T>G (p.Ile178Met) c.561T>G (p.Ile187Met) c.1416T>G (p.Ile472Met) c.1230T>G (p.Ile410Met) c.1149T>G (p.Ile383Met) c.855T>G (p.Ile285Met) c.1236T>G (p.Ile412Met) | |
2 | g.48688306A>G | CA426124989 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1491T>C (p.Ile497=) c.948-167T>C (n.948-167T>C) c.3441+16626A>G (n.3441+16626A>G) c.*235T>C (n.*235T>C) c.1410T>C (p.Ile470=) c.276+16626A>G (n.276+16626A>G) c.*220+5918T>C (n.*220+5918T>C) c.534T>C (p.Ile178=) c.561T>C (p.Ile187=) c.1416T>C (p.Ile472=) c.1230T>C (p.Ile410=) c.1149T>C (p.Ile383=) c.855T>C (p.Ile285=) c.1236T>C (p.Ile412=) | |
2 | g.48688306A>T | CA426124990 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1491T>A (p.Ile497=) c.948-167T>A (n.948-167T>A) c.3441+16626A>T (n.3441+16626A>T) c.*235T>A (n.*235T>A) c.1410T>A (p.Ile470=) c.276+16626A>T (n.276+16626A>T) c.*220+5918T>A (n.*220+5918T>A) c.534T>A (p.Ile178=) c.561T>A (p.Ile187=) c.1416T>A (p.Ile472=) c.1230T>A (p.Ile410=) c.1149T>A (p.Ile383=) c.855T>A (p.Ile285=) c.1236T>A (p.Ile412=) | |
2 | g.48688307A>C | CA346746722 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1490T>G (p.Ile497Ser) c.948-168T>G (n.948-168T>G) c.3441+16627A>C (n.3441+16627A>C) c.*234T>G (n.*234T>G) c.1409T>G (p.Ile470Ser) c.276+16627A>C (n.276+16627A>C) c.*220+5917T>G (n.*220+5917T>G) c.533T>G (p.Ile178Ser) c.560T>G (p.Ile187Ser) c.1415T>G (p.Ile472Ser) c.1229T>G (p.Ile410Ser) c.1148T>G (p.Ile383Ser) c.854T>G (p.Ile285Ser) c.1235T>G (p.Ile412Ser) | |
2 | g.48688307A>G | CA346746723 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1490T>C (p.Ile497Thr) c.948-168T>C (n.948-168T>C) c.3441+16627A>G (n.3441+16627A>G) c.*234T>C (n.*234T>C) c.1409T>C (p.Ile470Thr) c.276+16627A>G (n.276+16627A>G) c.*220+5917T>C (n.*220+5917T>C) c.533T>C (p.Ile178Thr) c.560T>C (p.Ile187Thr) c.1415T>C (p.Ile472Thr) c.1229T>C (p.Ile410Thr) c.1148T>C (p.Ile383Thr) c.854T>C (p.Ile285Thr) c.1235T>C (p.Ile412Thr) | |
2 | g.48688307A>T | CA346746724 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1490T>A (p.Ile497Asn) c.948-168T>A (n.948-168T>A) c.3441+16627A>T (n.3441+16627A>T) c.*234T>A (n.*234T>A) c.1409T>A (p.Ile470Asn) c.276+16627A>T (n.276+16627A>T) c.*220+5917T>A (n.*220+5917T>A) c.533T>A (p.Ile178Asn) c.560T>A (p.Ile187Asn) c.1415T>A (p.Ile472Asn) c.1229T>A (p.Ile410Asn) c.1148T>A (p.Ile383Asn) c.854T>A (p.Ile285Asn) c.1235T>A (p.Ile412Asn) | |
2 | g.48688308T>A | CA346746726 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1489A>T (p.Ile497Phe) c.948-169A>T (n.948-169A>T) c.3441+16628T>A (n.3441+16628T>A) c.*233A>T (n.*233A>T) c.1408A>T (p.Ile470Phe) c.276+16628T>A (n.276+16628T>A) c.*220+5916A>T (n.*220+5916A>T) c.532A>T (p.Ile178Phe) c.559A>T (p.Ile187Phe) c.1414A>T (p.Ile472Phe) c.1228A>T (p.Ile410Phe) c.1147A>T (p.Ile383Phe) c.853A>T (p.Ile285Phe) c.1234A>T (p.Ile412Phe) | |
2 | g.48688308T>C | CA346746728 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1489A>G (p.Ile497Val) c.948-169A>G (n.948-169A>G) c.3441+16628T>C (n.3441+16628T>C) c.*233A>G (n.*233A>G) c.1408A>G (p.Ile470Val) c.276+16628T>C (n.276+16628T>C) c.*220+5916A>G (n.*220+5916A>G) c.532A>G (p.Ile178Val) c.559A>G (p.Ile187Val) c.1414A>G (p.Ile472Val) c.1228A>G (p.Ile410Val) c.1147A>G (p.Ile383Val) c.853A>G (p.Ile285Val) c.1234A>G (p.Ile412Val) | |
2 | g.48688308T>G | CA346746730 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1489A>C (p.Ile497Leu) c.948-169A>C (n.948-169A>C) c.3441+16628T>G (n.3441+16628T>G) c.*233A>C (n.*233A>C) c.1408A>C (p.Ile470Leu) c.276+16628T>G (n.276+16628T>G) c.*220+5916A>C (n.*220+5916A>C) c.532A>C (p.Ile178Leu) c.559A>C (p.Ile187Leu) c.1414A>C (p.Ile472Leu) c.1228A>C (p.Ile410Leu) c.1147A>C (p.Ile383Leu) c.853A>C (p.Ile285Leu) c.1234A>C (p.Ile412Leu) | |
2 | g.48688309T>A | CA426124994 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1488A>T (p.Leu496=) c.948-170A>T (n.948-170A>T) c.3441+16629T>A (n.3441+16629T>A) c.*232A>T (n.*232A>T) c.1407A>T (p.Leu469=) c.276+16629T>A (n.276+16629T>A) c.*220+5915A>T (n.*220+5915A>T) c.531A>T (p.Leu177=) c.558A>T (p.Leu186=) c.1413A>T (p.Leu471=) c.1227A>T (p.Leu409=) c.1146A>T (p.Leu382=) c.852A>T (p.Leu284=) c.1233A>T (p.Leu411=) | |
2 | g.48688309T>C | CA426124995 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1488A>G (p.Leu496=) c.948-170A>G (n.948-170A>G) c.3441+16629T>C (n.3441+16629T>C) c.*232A>G (n.*232A>G) c.1407A>G (p.Leu469=) c.276+16629T>C (n.276+16629T>C) c.*220+5915A>G (n.*220+5915A>G) c.531A>G (p.Leu177=) c.558A>G (p.Leu186=) c.1413A>G (p.Leu471=) c.1227A>G (p.Leu409=) c.1146A>G (p.Leu382=) c.852A>G (p.Leu284=) c.1233A>G (p.Leu411=) | dbSNP gnomAD v4 |
2 | g.48688309T>G | CA426124996 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1488A>C (p.Leu496=) c.948-170A>C (n.948-170A>C) c.3441+16629T>G (n.3441+16629T>G) c.*232A>C (n.*232A>C) c.1407A>C (p.Leu469=) c.276+16629T>G (n.276+16629T>G) c.*220+5915A>C (n.*220+5915A>C) c.531A>C (p.Leu177=) c.558A>C (p.Leu186=) c.1413A>C (p.Leu471=) c.1227A>C (p.Leu409=) c.1146A>C (p.Leu382=) c.852A>C (p.Leu284=) c.1233A>C (p.Leu411=) | |
2 | g.48688310A>C | CA346746734 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1487T>G (p.Leu496Arg) c.948-171T>G (n.948-171T>G) c.3441+16630A>C (n.3441+16630A>C) c.*231T>G (n.*231T>G) c.1406T>G (p.Leu469Arg) c.276+16630A>C (n.276+16630A>C) c.*220+5914T>G (n.*220+5914T>G) c.530T>G (p.Leu177Arg) c.557T>G (p.Leu186Arg) c.1412T>G (p.Leu471Arg) c.1226T>G (p.Leu409Arg) c.1145T>G (p.Leu382Arg) c.851T>G (p.Leu284Arg) c.1232T>G (p.Leu411Arg) | |
2 | g.48688310A>G | CA346746736 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1487T>C (p.Leu496Pro) c.948-171T>C (n.948-171T>C) c.3441+16630A>G (n.3441+16630A>G) c.*231T>C (n.*231T>C) c.1406T>C (p.Leu469Pro) c.276+16630A>G (n.276+16630A>G) c.*220+5914T>C (n.*220+5914T>C) c.530T>C (p.Leu177Pro) c.557T>C (p.Leu186Pro) c.1412T>C (p.Leu471Pro) c.1226T>C (p.Leu409Pro) c.1145T>C (p.Leu382Pro) c.851T>C (p.Leu284Pro) c.1232T>C (p.Leu411Pro) | |
2 | g.48688310A>T | CA346746733 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1487T>A (p.Leu496Gln) c.948-171T>A (n.948-171T>A) c.3441+16630A>T (n.3441+16630A>T) c.*231T>A (n.*231T>A) c.1406T>A (p.Leu469Gln) c.276+16630A>T (n.276+16630A>T) c.*220+5914T>A (n.*220+5914T>A) c.530T>A (p.Leu177Gln) c.557T>A (p.Leu186Gln) c.1412T>A (p.Leu471Gln) c.1226T>A (p.Leu409Gln) c.1145T>A (p.Leu382Gln) c.851T>A (p.Leu284Gln) c.1232T>A (p.Leu411Gln) | |
2 | g.48688311G>A | CA1653023 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1486C>T (p.Leu496=) c.948-172C>T (n.948-172C>T) c.3441+16631G>A (n.3441+16631G>A) c.*230C>T (n.*230C>T) c.1405C>T (p.Leu469=) c.276+16631G>A (n.276+16631G>A) c.*220+5913C>T (n.*220+5913C>T) c.529C>T (p.Leu177=) c.556C>T (p.Leu186=) c.1411C>T (p.Leu471=) c.1225C>T (p.Leu409=) c.1144C>T (p.Leu382=) c.850C>T (p.Leu284=) c.1231C>T (p.Leu411=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688311G>C | CA46752951 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1486C>G (p.Leu496Val) c.948-172C>G (n.948-172C>G) c.3441+16631G>C (n.3441+16631G>C) c.*230C>G (n.*230C>G) c.1405C>G (p.Leu469Val) c.276+16631G>C (n.276+16631G>C) c.*220+5913C>G (n.*220+5913C>G) c.529C>G (p.Leu177Val) c.556C>G (p.Leu186Val) c.1411C>G (p.Leu471Val) c.1225C>G (p.Leu409Val) c.1144C>G (p.Leu382Val) c.850C>G (p.Leu284Val) c.1231C>G (p.Leu411Val) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48688311G= | CA1248601073 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1486C= (p.Leu496=) c.948-172C= (n.948-172C=) c.3441+16631G= (n.3441+16631G=) c.*230C= (n.*230C=) c.1405C= (p.Leu469=) c.276+16631G= (n.276+16631G=) c.*220+5913C= (n.*220+5913C=) c.529C= (p.Leu177=) c.556C= (p.Leu186=) c.1411C= (p.Leu471=) c.1225C= (p.Leu409=) c.1144C= (p.Leu382=) c.850C= (p.Leu284=) c.1231C= (p.Leu411=) | |
2 | g.48688311G>T | CA346746741 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1486C>A (p.Leu496Ile) c.948-172C>A (n.948-172C>A) c.3441+16631G>T (n.3441+16631G>T) c.*230C>A (n.*230C>A) c.1405C>A (p.Leu469Ile) c.276+16631G>T (n.276+16631G>T) c.*220+5913C>A (n.*220+5913C>A) c.529C>A (p.Leu177Ile) c.556C>A (p.Leu186Ile) c.1411C>A (p.Leu471Ile) c.1225C>A (p.Leu409Ile) c.1144C>A (p.Leu382Ile) c.850C>A (p.Leu284Ile) c.1231C>A (p.Leu411Ile) | |
2 | g.48688312A= | CA1248601074 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1485T= (p.Ser495=) c.948-173T= (n.948-173T=) c.3441+16632A= (n.3441+16632A=) c.*229T= (n.*229T=) c.1404T= (p.Ser468=) c.276+16632A= (n.276+16632A=) c.*220+5912T= (n.*220+5912T=) c.528T= (p.Ser176=) c.555T= (p.Ser185=) c.1410T= (p.Ser470=) c.1224T= (p.Ser408=) c.1143T= (p.Ser381=) c.849T= (p.Ser283=) c.1230T= (p.Ser410=) | |
2 | g.48688312A>C | CA426124998 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1485T>G (p.Ser495=) c.948-173T>G (n.948-173T>G) c.3441+16632A>C (n.3441+16632A>C) c.*229T>G (n.*229T>G) c.1404T>G (p.Ser468=) c.276+16632A>C (n.276+16632A>C) c.*220+5912T>G (n.*220+5912T>G) c.528T>G (p.Ser176=) c.555T>G (p.Ser185=) c.1410T>G (p.Ser470=) c.1224T>G (p.Ser408=) c.1143T>G (p.Ser381=) c.849T>G (p.Ser283=) c.1230T>G (p.Ser410=) | |
2 | g.48688312A>G | CA426125000 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1485T>C (p.Ser495=) c.948-173T>C (n.948-173T>C) c.3441+16632A>G (n.3441+16632A>G) c.*229T>C (n.*229T>C) c.1404T>C (p.Ser468=) c.276+16632A>G (n.276+16632A>G) c.*220+5912T>C (n.*220+5912T>C) c.528T>C (p.Ser176=) c.555T>C (p.Ser185=) c.1410T>C (p.Ser470=) c.1224T>C (p.Ser408=) c.1143T>C (p.Ser381=) c.849T>C (p.Ser283=) c.1230T>C (p.Ser410=) | |
2 | g.48688312A>T | CA426125002 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1485T>A (p.Ser495=) c.948-173T>A (n.948-173T>A) c.3441+16632A>T (n.3441+16632A>T) c.*229T>A (n.*229T>A) c.1404T>A (p.Ser468=) c.276+16632A>T (n.276+16632A>T) c.*220+5912T>A (n.*220+5912T>A) c.528T>A (p.Ser176=) c.555T>A (p.Ser185=) c.1410T>A (p.Ser470=) c.1224T>A (p.Ser408=) c.1143T>A (p.Ser381=) c.849T>A (p.Ser283=) c.1230T>A (p.Ser410=) | |
2 | g.48688312_48688313insT | CA1248601075 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1484_1485insA (p.Leu496SerfsTer?) c.948-174_948-173insA (n.948-174_948-173insA) c.3441+16632_3441+16633insT (n.3441+16632_3441+16633insT) c.*228_*229insA (n.*228_*229insA) c.1403_1404insA (p.Leu469SerfsTer?) c.276+16632_276+16633insT (n.276+16632_276+16633insT) c.*220+5911_*220+5912insA (n.*220+5911_*220+5912insA) c.527_528insA (p.Leu177SerfsTer?) c.554_555insA (p.Leu186SerfsTer?) c.1409_1410insA (p.Leu471SerfsTer?) c.1223_1224insA (p.Leu409SerfsTer?) c.1142_1143insA (p.Leu382SerfsTer?) c.848_849insA (p.Leu284SerfsTer?) c.1229_1230insA (p.Leu411SerfsTer?) | dbSNP |
2 | g.48688313G>A | CA346746745 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1484C>T (p.Ser495Phe) c.948-174C>T (n.948-174C>T) c.3441+16633G>A (n.3441+16633G>A) c.*228C>T (n.*228C>T) c.1403C>T (p.Ser468Phe) c.276+16633G>A (n.276+16633G>A) c.*220+5911C>T (n.*220+5911C>T) c.527C>T (p.Ser176Phe) c.554C>T (p.Ser185Phe) c.1409C>T (p.Ser470Phe) c.1223C>T (p.Ser408Phe) c.1142C>T (p.Ser381Phe) c.848C>T (p.Ser283Phe) c.1229C>T (p.Ser410Phe) | COSMIC |
2 | g.48688313G>C | CA346746747 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1484C>G (p.Ser495Cys) c.948-174C>G (n.948-174C>G) c.3441+16633G>C (n.3441+16633G>C) c.*228C>G (n.*228C>G) c.1403C>G (p.Ser468Cys) c.276+16633G>C (n.276+16633G>C) c.*220+5911C>G (n.*220+5911C>G) c.527C>G (p.Ser176Cys) c.554C>G (p.Ser185Cys) c.1409C>G (p.Ser470Cys) c.1223C>G (p.Ser408Cys) c.1142C>G (p.Ser381Cys) c.848C>G (p.Ser283Cys) c.1229C>G (p.Ser410Cys) | |
2 | g.48688313G>T | CA346746749 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1484C>A (p.Ser495Tyr) c.948-174C>A (n.948-174C>A) c.3441+16633G>T (n.3441+16633G>T) c.*228C>A (n.*228C>A) c.1403C>A (p.Ser468Tyr) c.276+16633G>T (n.276+16633G>T) c.*220+5911C>A (n.*220+5911C>A) c.527C>A (p.Ser176Tyr) c.554C>A (p.Ser185Tyr) c.1409C>A (p.Ser470Tyr) c.1223C>A (p.Ser408Tyr) c.1142C>A (p.Ser381Tyr) c.848C>A (p.Ser283Tyr) c.1229C>A (p.Ser410Tyr) | |
2 | g.48688314A>C | CA346746752 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1483T>G (p.Ser495Ala) c.948-175T>G (n.948-175T>G) c.3441+16634A>C (n.3441+16634A>C) c.*227T>G (n.*227T>G) c.1402T>G (p.Ser468Ala) c.276+16634A>C (n.276+16634A>C) c.*220+5910T>G (n.*220+5910T>G) c.526T>G (p.Ser176Ala) c.553T>G (p.Ser185Ala) c.1408T>G (p.Ser470Ala) c.1222T>G (p.Ser408Ala) c.1141T>G (p.Ser381Ala) c.847T>G (p.Ser283Ala) c.1228T>G (p.Ser410Ala) | |
2 | g.48688314A>G | CA346746753 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1483T>C (p.Ser495Pro) c.948-175T>C (n.948-175T>C) c.3441+16634A>G (n.3441+16634A>G) c.*227T>C (n.*227T>C) c.1402T>C (p.Ser468Pro) c.276+16634A>G (n.276+16634A>G) c.*220+5910T>C (n.*220+5910T>C) c.526T>C (p.Ser176Pro) c.553T>C (p.Ser185Pro) c.1408T>C (p.Ser470Pro) c.1222T>C (p.Ser408Pro) c.1141T>C (p.Ser381Pro) c.847T>C (p.Ser283Pro) c.1228T>C (p.Ser410Pro) | |
2 | g.48688314A>T | CA346746754 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1483T>A (p.Ser495Thr) c.948-175T>A (n.948-175T>A) c.3441+16634A>T (n.3441+16634A>T) c.*227T>A (n.*227T>A) c.1402T>A (p.Ser468Thr) c.276+16634A>T (n.276+16634A>T) c.*220+5910T>A (n.*220+5910T>A) c.526T>A (p.Ser176Thr) c.553T>A (p.Ser185Thr) c.1408T>A (p.Ser470Thr) c.1222T>A (p.Ser408Thr) c.1141T>A (p.Ser381Thr) c.847T>A (p.Ser283Thr) c.1228T>A (p.Ser410Thr) | |
2 | g.48688315A= | CA1248601076 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1482T= (p.Ser494=) c.948-176T= (n.948-176T=) c.3441+16635A= (n.3441+16635A=) c.*226T= (n.*226T=) c.1401T= (p.Ser467=) c.276+16635A= (n.276+16635A=) c.*220+5909T= (n.*220+5909T=) c.525T= (p.Ser175=) c.552T= (p.Ser184=) c.1407T= (p.Ser469=) c.1221T= (p.Ser407=) c.1140T= (p.Ser380=) c.846T= (p.Ser282=) c.1227T= (p.Ser409=) | |
2 | g.48688315A>C | CA426125003 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1482T>G (p.Ser494=) c.948-176T>G (n.948-176T>G) c.3441+16635A>C (n.3441+16635A>C) c.*226T>G (n.*226T>G) c.1401T>G (p.Ser467=) c.276+16635A>C (n.276+16635A>C) c.*220+5909T>G (n.*220+5909T>G) c.525T>G (p.Ser175=) c.552T>G (p.Ser184=) c.1407T>G (p.Ser469=) c.1221T>G (p.Ser407=) c.1140T>G (p.Ser380=) c.846T>G (p.Ser282=) c.1227T>G (p.Ser409=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688315A>G | CA426125004 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1482T>C (p.Ser494=) c.948-176T>C (n.948-176T>C) c.3441+16635A>G (n.3441+16635A>G) c.*226T>C (n.*226T>C) c.1401T>C (p.Ser467=) c.276+16635A>G (n.276+16635A>G) c.*220+5909T>C (n.*220+5909T>C) c.525T>C (p.Ser175=) c.552T>C (p.Ser184=) c.1407T>C (p.Ser469=) c.1221T>C (p.Ser407=) c.1140T>C (p.Ser380=) c.846T>C (p.Ser282=) c.1227T>C (p.Ser409=) | COSMIC |
2 | g.48688315A>T | CA426125005 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1482T>A (p.Ser494=) c.948-176T>A (n.948-176T>A) c.3441+16635A>T (n.3441+16635A>T) c.*226T>A (n.*226T>A) c.1401T>A (p.Ser467=) c.276+16635A>T (n.276+16635A>T) c.*220+5909T>A (n.*220+5909T>A) c.525T>A (p.Ser175=) c.552T>A (p.Ser184=) c.1407T>A (p.Ser469=) c.1221T>A (p.Ser407=) c.1140T>A (p.Ser380=) c.846T>A (p.Ser282=) c.1227T>A (p.Ser409=) | |
2 | g.48688316G>A | CA346746757 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1481C>T (p.Ser494Phe) c.948-177C>T (n.948-177C>T) c.3441+16636G>A (n.3441+16636G>A) c.*225C>T (n.*225C>T) c.1400C>T (p.Ser467Phe) c.276+16636G>A (n.276+16636G>A) c.*220+5908C>T (n.*220+5908C>T) c.524C>T (p.Ser175Phe) c.551C>T (p.Ser184Phe) c.1406C>T (p.Ser469Phe) c.1220C>T (p.Ser407Phe) c.1139C>T (p.Ser380Phe) c.845C>T (p.Ser282Phe) c.1226C>T (p.Ser409Phe) | |
2 | g.48688316G>C | CA346746758 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1481C>G (p.Ser494Cys) c.948-177C>G (n.948-177C>G) c.3441+16636G>C (n.3441+16636G>C) c.*225C>G (n.*225C>G) c.1400C>G (p.Ser467Cys) c.276+16636G>C (n.276+16636G>C) c.*220+5908C>G (n.*220+5908C>G) c.524C>G (p.Ser175Cys) c.551C>G (p.Ser184Cys) c.1406C>G (p.Ser469Cys) c.1220C>G (p.Ser407Cys) c.1139C>G (p.Ser380Cys) c.845C>G (p.Ser282Cys) c.1226C>G (p.Ser409Cys) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48688316G>T | CA346746760 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1481C>A (p.Ser494Tyr) c.948-177C>A (n.948-177C>A) c.3441+16636G>T (n.3441+16636G>T) c.*225C>A (n.*225C>A) c.1400C>A (p.Ser467Tyr) c.276+16636G>T (n.276+16636G>T) c.*220+5908C>A (n.*220+5908C>A) c.524C>A (p.Ser175Tyr) c.551C>A (p.Ser184Tyr) c.1406C>A (p.Ser469Tyr) c.1220C>A (p.Ser407Tyr) c.1139C>A (p.Ser380Tyr) c.845C>A (p.Ser282Tyr) c.1226C>A (p.Ser409Tyr) | |
2 | g.48688316_48688317delinsGA | CA1248601077 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1480_1481delinsTC (p.Ser494=) c.948-178_948-177delinsTC (n.948-178_948-177delinsTC) c.3441+16636_3441+16637delinsGA (n.3441+16636_3441+16637delinsGA) c.*224_*225delinsTC (n.*224_*225delinsTC) c.1399_1400delinsTC (p.Ser467=) c.276+16636_276+16637delinsGA (n.276+16636_276+16637delinsGA) c.*220+5907_*220+5908delinsTC (n.*220+5907_*220+5908delinsTC) c.523_524delinsTC (p.Ser175=) c.550_551delinsTC (p.Ser184=) c.1405_1406delinsTC (p.Ser469=) c.1219_1220delinsTC (p.Ser407=) c.1138_1139delinsTC (p.Ser380=) c.844_845delinsTC (p.Ser282=) c.1225_1226delinsTC (p.Ser409=) | |
2 | g.48688317A= | CA1248601078 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1480T= (p.Ser494=) c.948-178T= (n.948-178T=) c.3441+16637A= (n.3441+16637A=) c.*224T= (n.*224T=) c.1399T= (p.Ser467=) c.276+16637A= (n.276+16637A=) c.*220+5907T= (n.*220+5907T=) c.523T= (p.Ser175=) c.550T= (p.Ser184=) c.1405T= (p.Ser469=) c.1219T= (p.Ser407=) c.1138T= (p.Ser380=) c.844T= (p.Ser282=) c.1225T= (p.Ser409=) | |
2 | g.48688317A>C | CA346746768 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1480T>G (p.Ser494Ala) c.948-178T>G (n.948-178T>G) c.3441+16637A>C (n.3441+16637A>C) c.*224T>G (n.*224T>G) c.1399T>G (p.Ser467Ala) c.276+16637A>C (n.276+16637A>C) c.*220+5907T>G (n.*220+5907T>G) c.523T>G (p.Ser175Ala) c.550T>G (p.Ser184Ala) c.1405T>G (p.Ser469Ala) c.1219T>G (p.Ser407Ala) c.1138T>G (p.Ser380Ala) c.844T>G (p.Ser282Ala) c.1225T>G (p.Ser409Ala) | |
2 | g.48688317A>G | CA346746765 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1480T>C (p.Ser494Pro) c.948-178T>C (n.948-178T>C) c.3441+16637A>G (n.3441+16637A>G) c.*224T>C (n.*224T>C) c.1399T>C (p.Ser467Pro) c.276+16637A>G (n.276+16637A>G) c.*220+5907T>C (n.*220+5907T>C) c.523T>C (p.Ser175Pro) c.550T>C (p.Ser184Pro) c.1405T>C (p.Ser469Pro) c.1219T>C (p.Ser407Pro) c.1138T>C (p.Ser380Pro) c.844T>C (p.Ser282Pro) c.1225T>C (p.Ser409Pro) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48688317A>T | CA346746762 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1480T>A (p.Ser494Thr) c.948-178T>A (n.948-178T>A) c.3441+16637A>T (n.3441+16637A>T) c.*224T>A (n.*224T>A) c.1399T>A (p.Ser467Thr) c.276+16637A>T (n.276+16637A>T) c.*220+5907T>A (n.*220+5907T>A) c.523T>A (p.Ser175Thr) c.550T>A (p.Ser184Thr) c.1405T>A (p.Ser469Thr) c.1219T>A (p.Ser407Thr) c.1138T>A (p.Ser380Thr) c.844T>A (p.Ser282Thr) c.1225T>A (p.Ser409Thr) | |
2 | g.48688320del | CA532706163 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1480del (p.Ser494LeufsTer3) c.948-178del (n.948-178del) c.3441+16640del (n.3441+16640del) c.*224del (n.*224del) c.1399del (p.Ser467LeufsTer3) c.276+16640del (n.276+16640del) c.*220+5907del (n.*220+5907del) c.523del (p.Ser175LeufsTer3) c.550del (p.Ser184LeufsTer3) c.1405del (p.Ser469LeufsTer3) c.1219del (p.Ser407LeufsTer3) c.1138del (p.Ser380LeufsTer3) c.844del (p.Ser282LeufsTer3) c.1225del (p.Ser409LeufsTer3) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688318A>C | CA346746771 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1479T>G (p.Phe493Leu) c.948-179T>G (n.948-179T>G) c.3441+16638A>C (n.3441+16638A>C) c.*223T>G (n.*223T>G) c.1398T>G (p.Phe466Leu) c.276+16638A>C (n.276+16638A>C) c.*220+5906T>G (n.*220+5906T>G) c.522T>G (p.Phe174Leu) c.549T>G (p.Phe183Leu) c.1404T>G (p.Phe468Leu) c.1218T>G (p.Phe406Leu) c.1137T>G (p.Phe379Leu) c.843T>G (p.Phe281Leu) c.1224T>G (p.Phe408Leu) | |
2 | g.48688318A>G | CA426125010 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1479T>C (p.Phe493=) c.948-179T>C (n.948-179T>C) c.3441+16638A>G (n.3441+16638A>G) c.*223T>C (n.*223T>C) c.1398T>C (p.Phe466=) c.276+16638A>G (n.276+16638A>G) c.*220+5906T>C (n.*220+5906T>C) c.522T>C (p.Phe174=) c.549T>C (p.Phe183=) c.1404T>C (p.Phe468=) c.1218T>C (p.Phe406=) c.1137T>C (p.Phe379=) c.843T>C (p.Phe281=) c.1224T>C (p.Phe408=) | |
2 | g.48688318A>T | CA346746773 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1479T>A (p.Phe493Leu) c.948-179T>A (n.948-179T>A) c.3441+16638A>T (n.3441+16638A>T) c.*223T>A (n.*223T>A) c.1398T>A (p.Phe466Leu) c.276+16638A>T (n.276+16638A>T) c.*220+5906T>A (n.*220+5906T>A) c.522T>A (p.Phe174Leu) c.549T>A (p.Phe183Leu) c.1404T>A (p.Phe468Leu) c.1218T>A (p.Phe406Leu) c.1137T>A (p.Phe379Leu) c.843T>A (p.Phe281Leu) c.1224T>A (p.Phe408Leu) | |
2 | g.48688319A>C | CA346746775 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1478T>G (p.Phe493Cys) c.948-180T>G (n.948-180T>G) c.3441+16639A>C (n.3441+16639A>C) c.*222T>G (n.*222T>G) c.1397T>G (p.Phe466Cys) c.276+16639A>C (n.276+16639A>C) c.*220+5905T>G (n.*220+5905T>G) c.521T>G (p.Phe174Cys) c.548T>G (p.Phe183Cys) c.1403T>G (p.Phe468Cys) c.1217T>G (p.Phe406Cys) c.1136T>G (p.Phe379Cys) c.842T>G (p.Phe281Cys) c.1223T>G (p.Phe408Cys) | |
2 | g.48688319A>G | CA346746777 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1478T>C (p.Phe493Ser) c.948-180T>C (n.948-180T>C) c.3441+16639A>G (n.3441+16639A>G) c.*222T>C (n.*222T>C) c.1397T>C (p.Phe466Ser) c.276+16639A>G (n.276+16639A>G) c.*220+5905T>C (n.*220+5905T>C) c.521T>C (p.Phe174Ser) c.548T>C (p.Phe183Ser) c.1403T>C (p.Phe468Ser) c.1217T>C (p.Phe406Ser) c.1136T>C (p.Phe379Ser) c.842T>C (p.Phe281Ser) c.1223T>C (p.Phe408Ser) | |
2 | g.48688319A>T | CA346746779 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1478T>A (p.Phe493Tyr) c.948-180T>A (n.948-180T>A) c.3441+16639A>T (n.3441+16639A>T) c.*222T>A (n.*222T>A) c.1397T>A (p.Phe466Tyr) c.276+16639A>T (n.276+16639A>T) c.*220+5905T>A (n.*220+5905T>A) c.521T>A (p.Phe174Tyr) c.548T>A (p.Phe183Tyr) c.1403T>A (p.Phe468Tyr) c.1217T>A (p.Phe406Tyr) c.1136T>A (p.Phe379Tyr) c.842T>A (p.Phe281Tyr) c.1223T>A (p.Phe408Tyr) | |
2 | g.48688320A>C | CA346746781 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1477T>G (p.Phe493Val) c.948-181T>G (n.948-181T>G) c.3441+16640A>C (n.3441+16640A>C) c.*221T>G (n.*221T>G) c.1396T>G (p.Phe466Val) c.276+16640A>C (n.276+16640A>C) c.*220+5904T>G (n.*220+5904T>G) c.520T>G (p.Phe174Val) c.547T>G (p.Phe183Val) c.1402T>G (p.Phe468Val) c.1216T>G (p.Phe406Val) c.1135T>G (p.Phe379Val) c.841T>G (p.Phe281Val) c.1222T>G (p.Phe408Val) | |
2 | g.48688320A>G | CA346746782 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1477T>C (p.Phe493Leu) c.948-181T>C (n.948-181T>C) c.3441+16640A>G (n.3441+16640A>G) c.*221T>C (n.*221T>C) c.1396T>C (p.Phe466Leu) c.276+16640A>G (n.276+16640A>G) c.*220+5904T>C (n.*220+5904T>C) c.520T>C (p.Phe174Leu) c.547T>C (p.Phe183Leu) c.1402T>C (p.Phe468Leu) c.1216T>C (p.Phe406Leu) c.1135T>C (p.Phe379Leu) c.841T>C (p.Phe281Leu) c.1222T>C (p.Phe408Leu) | |
2 | g.48688320A>T | CA346746783 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1477T>A (p.Phe493Ile) c.948-181T>A (n.948-181T>A) c.3441+16640A>T (n.3441+16640A>T) c.*221T>A (n.*221T>A) c.1396T>A (p.Phe466Ile) c.276+16640A>T (n.276+16640A>T) c.*220+5904T>A (n.*220+5904T>A) c.520T>A (p.Phe174Ile) c.547T>A (p.Phe183Ile) c.1402T>A (p.Phe468Ile) c.1216T>A (p.Phe406Ile) c.1135T>A (p.Phe379Ile) c.841T>A (p.Phe281Ile) c.1222T>A (p.Phe408Ile) | |
2 | g.48688320_48688321delinsAG | CA1248601079 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1476_1477delinsCT (p.Leu492=) c.948-182_948-181delinsCT (n.948-182_948-181delinsCT) c.3441+16640_3441+16641delinsAG (n.3441+16640_3441+16641delinsAG) c.*220_*221delinsCT (n.*220_*221delinsCT) c.1395_1396delinsCT (p.Leu465=) c.276+16640_276+16641delinsAG (n.276+16640_276+16641delinsAG) c.*220+5903_*220+5904delinsCT (n.*220+5903_*220+5904delinsCT) c.519_520delinsCT (p.Leu173=) c.546_547delinsCT (p.Leu182=) c.1401_1402delinsCT (p.Leu467=) c.1215_1216delinsCT (p.Leu405=) c.1134_1135delinsCT (p.Leu378=) c.840_841delinsCT (p.Leu280=) c.1221_1222delinsCT (p.Leu407=) | |
2 | g.48688321del | CA532706164 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1476del (p.Ser494LeufsTer3) c.948-182del (n.948-182del) c.3441+16641del (n.3441+16641del) c.*220del (n.*220del) c.1395del (p.Ser467LeufsTer3) c.276+16641del (n.276+16641del) c.*220+5903del (n.*220+5903del) c.519del (p.Ser175LeufsTer3) c.546del (p.Ser184LeufsTer3) c.1401del (p.Ser469LeufsTer3) c.1215del (p.Ser407LeufsTer3) c.1134del (p.Ser380LeufsTer3) c.840del (p.Ser282LeufsTer3) c.1221del (p.Ser409LeufsTer3) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48688321G>A | CA426125015 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1476C>T (p.Leu492=) c.948-182C>T (n.948-182C>T) c.3441+16641G>A (n.3441+16641G>A) c.*220C>T (n.*220C>T) c.1395C>T (p.Leu465=) c.276+16641G>A (n.276+16641G>A) c.*220+5903C>T (n.*220+5903C>T) c.519C>T (p.Leu173=) c.546C>T (p.Leu182=) c.1401C>T (p.Leu467=) c.1215C>T (p.Leu405=) c.1134C>T (p.Leu378=) c.840C>T (p.Leu280=) c.1221C>T (p.Leu407=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688321G>C | CA426125016 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1476C>G (p.Leu492=) c.948-182C>G (n.948-182C>G) c.3441+16641G>C (n.3441+16641G>C) c.*220C>G (n.*220C>G) c.1395C>G (p.Leu465=) c.276+16641G>C (n.276+16641G>C) c.*220+5903C>G (n.*220+5903C>G) c.519C>G (p.Leu173=) c.546C>G (p.Leu182=) c.1401C>G (p.Leu467=) c.1215C>G (p.Leu405=) c.1134C>G (p.Leu378=) c.840C>G (p.Leu280=) c.1221C>G (p.Leu407=) | |
2 | g.48688321G= | CA1248601080 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1476C= (p.Leu492=) c.948-182C= (n.948-182C=) c.3441+16641G= (n.3441+16641G=) c.*220C= (n.*220C=) c.1395C= (p.Leu465=) c.276+16641G= (n.276+16641G=) c.*220+5903C= (n.*220+5903C=) c.519C= (p.Leu173=) c.546C= (p.Leu182=) c.1401C= (p.Leu467=) c.1215C= (p.Leu405=) c.1134C= (p.Leu378=) c.840C= (p.Leu280=) c.1221C= (p.Leu407=) | |
2 | g.48688321G>T | CA426125018 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1476C>A (p.Leu492=) c.948-182C>A (n.948-182C>A) c.3441+16641G>T (n.3441+16641G>T) c.*220C>A (n.*220C>A) c.1395C>A (p.Leu465=) c.276+16641G>T (n.276+16641G>T) c.*220+5903C>A (n.*220+5903C>A) c.519C>A (p.Leu173=) c.546C>A (p.Leu182=) c.1401C>A (p.Leu467=) c.1215C>A (p.Leu405=) c.1134C>A (p.Leu378=) c.840C>A (p.Leu280=) c.1221C>A (p.Leu407=) | |
2 | g.48688322A>C | CA346746786 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1475T>G (p.Leu492Arg) c.948-183T>G (n.948-183T>G) c.3441+16642A>C (n.3441+16642A>C) c.*219T>G (n.*219T>G) c.1394T>G (p.Leu465Arg) c.276+16642A>C (n.276+16642A>C) c.*220+5902T>G (n.*220+5902T>G) c.518T>G (p.Leu173Arg) c.545T>G (p.Leu182Arg) c.1400T>G (p.Leu467Arg) c.1214T>G (p.Leu405Arg) c.1133T>G (p.Leu378Arg) c.839T>G (p.Leu280Arg) c.1220T>G (p.Leu407Arg) | |
2 | g.48688322A>G | CA346746789 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1475T>C (p.Leu492Pro) c.948-183T>C (n.948-183T>C) c.3441+16642A>G (n.3441+16642A>G) c.*219T>C (n.*219T>C) c.1394T>C (p.Leu465Pro) c.276+16642A>G (n.276+16642A>G) c.*220+5902T>C (n.*220+5902T>C) c.518T>C (p.Leu173Pro) c.545T>C (p.Leu182Pro) c.1400T>C (p.Leu467Pro) c.1214T>C (p.Leu405Pro) c.1133T>C (p.Leu378Pro) c.839T>C (p.Leu280Pro) c.1220T>C (p.Leu407Pro) | |
2 | g.48688322A>T | CA346746791 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1475T>A (p.Leu492His) c.948-183T>A (n.948-183T>A) c.3441+16642A>T (n.3441+16642A>T) c.*219T>A (n.*219T>A) c.1394T>A (p.Leu465His) c.276+16642A>T (n.276+16642A>T) c.*220+5902T>A (n.*220+5902T>A) c.518T>A (p.Leu173His) c.545T>A (p.Leu182His) c.1400T>A (p.Leu467His) c.1214T>A (p.Leu405His) c.1133T>A (p.Leu378His) c.839T>A (p.Leu280His) c.1220T>A (p.Leu407His) | |
2 | g.48688323G>A | CA346746793 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1474C>T (p.Leu492Phe) c.948-184C>T (n.948-184C>T) c.3441+16643G>A (n.3441+16643G>A) c.*218C>T (n.*218C>T) c.1393C>T (p.Leu465Phe) c.276+16643G>A (n.276+16643G>A) c.*220+5901C>T (n.*220+5901C>T) c.517C>T (p.Leu173Phe) c.544C>T (p.Leu182Phe) c.1399C>T (p.Leu467Phe) c.1213C>T (p.Leu405Phe) c.1132C>T (p.Leu378Phe) c.838C>T (p.Leu280Phe) c.1219C>T (p.Leu407Phe) | |
2 | g.48688323G>C | CA346746795 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1474C>G (p.Leu492Val) c.948-184C>G (n.948-184C>G) c.3441+16643G>C (n.3441+16643G>C) c.*218C>G (n.*218C>G) c.1393C>G (p.Leu465Val) c.276+16643G>C (n.276+16643G>C) c.*220+5901C>G (n.*220+5901C>G) c.517C>G (p.Leu173Val) c.544C>G (p.Leu182Val) c.1399C>G (p.Leu467Val) c.1213C>G (p.Leu405Val) c.1132C>G (p.Leu378Val) c.838C>G (p.Leu280Val) c.1219C>G (p.Leu407Val) | |
2 | g.48688323G= | CA1248601081 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1474C= (p.Leu492=) c.948-184C= (n.948-184C=) c.3441+16643G= (n.3441+16643G=) c.*218C= (n.*218C=) c.1393C= (p.Leu465=) c.276+16643G= (n.276+16643G=) c.*220+5901C= (n.*220+5901C=) c.517C= (p.Leu173=) c.544C= (p.Leu182=) c.1399C= (p.Leu467=) c.1213C= (p.Leu405=) c.1132C= (p.Leu378=) c.838C= (p.Leu280=) c.1219C= (p.Leu407=) | |
2 | g.48688323G>T | CA346746797 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1474C>A (p.Leu492Ile) c.948-184C>A (n.948-184C>A) c.3441+16643G>T (n.3441+16643G>T) c.*218C>A (n.*218C>A) c.1393C>A (p.Leu465Ile) c.276+16643G>T (n.276+16643G>T) c.*220+5901C>A (n.*220+5901C>A) c.517C>A (p.Leu173Ile) c.544C>A (p.Leu182Ile) c.1399C>A (p.Leu467Ile) c.1213C>A (p.Leu405Ile) c.1132C>A (p.Leu378Ile) c.838C>A (p.Leu280Ile) c.1219C>A (p.Leu407Ile) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48688324C>A | CA346746801 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1473G>T (p.Trp491Cys) c.948-185G>T (n.948-185G>T) c.3441+16644C>A (n.3441+16644C>A) c.*217G>T (n.*217G>T) c.1392G>T (p.Trp464Cys) c.276+16644C>A (n.276+16644C>A) c.*220+5900G>T (n.*220+5900G>T) c.516G>T (p.Trp172Cys) c.543G>T (p.Trp181Cys) c.1398G>T (p.Trp466Cys) c.1212G>T (p.Trp404Cys) c.1131G>T (p.Trp377Cys) c.837G>T (p.Trp279Cys) c.1218G>T (p.Trp406Cys) | |
2 | g.48688324C>G | CA346746802 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1473G>C (p.Trp491Cys) c.948-185G>C (n.948-185G>C) c.3441+16644C>G (n.3441+16644C>G) c.*217G>C (n.*217G>C) c.1392G>C (p.Trp464Cys) c.276+16644C>G (n.276+16644C>G) c.*220+5900G>C (n.*220+5900G>C) c.516G>C (p.Trp172Cys) c.543G>C (p.Trp181Cys) c.1398G>C (p.Trp466Cys) c.1212G>C (p.Trp404Cys) c.1131G>C (p.Trp377Cys) c.837G>C (p.Trp279Cys) c.1218G>C (p.Trp406Cys) | |
2 | g.48688324C>T | CA346746799 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1473G>A (p.Trp491Ter) c.948-185G>A (n.948-185G>A) c.3441+16644C>T (n.3441+16644C>T) c.*217G>A (n.*217G>A) c.1392G>A (p.Trp464Ter) c.276+16644C>T (n.276+16644C>T) c.*220+5900G>A (n.*220+5900G>A) c.516G>A (p.Trp172Ter) c.543G>A (p.Trp181Ter) c.1398G>A (p.Trp466Ter) c.1212G>A (p.Trp404Ter) c.1131G>A (p.Trp377Ter) c.837G>A (p.Trp279Ter) c.1218G>A (p.Trp406Ter) | |
2 | g.48688325C>A | CA346746805 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1472G>T (p.Trp491Leu) c.948-186G>T (n.948-186G>T) c.3441+16645C>A (n.3441+16645C>A) c.*216G>T (n.*216G>T) c.1391G>T (p.Trp464Leu) c.276+16645C>A (n.276+16645C>A) c.*220+5899G>T (n.*220+5899G>T) c.515G>T (p.Trp172Leu) c.542G>T (p.Trp181Leu) c.1397G>T (p.Trp466Leu) c.1211G>T (p.Trp404Leu) c.1130G>T (p.Trp377Leu) c.836G>T (p.Trp279Leu) c.1217G>T (p.Trp406Leu) | |
2 | g.48688325C>G | CA346746807 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1472G>C (p.Trp491Ser) c.948-186G>C (n.948-186G>C) c.3441+16645C>G (n.3441+16645C>G) c.*216G>C (n.*216G>C) c.1391G>C (p.Trp464Ser) c.276+16645C>G (n.276+16645C>G) c.*220+5899G>C (n.*220+5899G>C) c.515G>C (p.Trp172Ser) c.542G>C (p.Trp181Ser) c.1397G>C (p.Trp466Ser) c.1211G>C (p.Trp404Ser) c.1130G>C (p.Trp377Ser) c.836G>C (p.Trp279Ser) c.1217G>C (p.Trp406Ser) | |
2 | g.48688325C>T | CA346746810 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1472G>A (p.Trp491Ter) c.948-186G>A (n.948-186G>A) c.3441+16645C>T (n.3441+16645C>T) c.*216G>A (n.*216G>A) c.1391G>A (p.Trp464Ter) c.276+16645C>T (n.276+16645C>T) c.*220+5899G>A (n.*220+5899G>A) c.515G>A (p.Trp172Ter) c.542G>A (p.Trp181Ter) c.1397G>A (p.Trp466Ter) c.1211G>A (p.Trp404Ter) c.1130G>A (p.Trp377Ter) c.836G>A (p.Trp279Ter) c.1217G>A (p.Trp406Ter) | |
2 | g.48688326A= | CA1248601082 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1471T= (p.Trp491=) c.948-187T= (n.948-187T=) c.3441+16646A= (n.3441+16646A=) c.*215T= (n.*215T=) c.1390T= (p.Trp464=) c.276+16646A= (n.276+16646A=) c.*220+5898T= (n.*220+5898T=) c.514T= (p.Trp172=) c.541T= (p.Trp181=) c.1396T= (p.Trp466=) c.1210T= (p.Trp404=) c.1129T= (p.Trp377=) c.835T= (p.Trp279=) c.1216T= (p.Trp406=) | |
2 | g.48688326A>C | CA346746811 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1471T>G (p.Trp491Gly) c.948-187T>G (n.948-187T>G) c.3441+16646A>C (n.3441+16646A>C) c.*215T>G (n.*215T>G) c.1390T>G (p.Trp464Gly) c.276+16646A>C (n.276+16646A>C) c.*220+5898T>G (n.*220+5898T>G) c.514T>G (p.Trp172Gly) c.541T>G (p.Trp181Gly) c.1396T>G (p.Trp466Gly) c.1210T>G (p.Trp404Gly) c.1129T>G (p.Trp377Gly) c.835T>G (p.Trp279Gly) c.1216T>G (p.Trp406Gly) | |
2 | g.48688326A>G | CA16617732 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1471T>C (p.Trp491Arg) c.948-187T>C (n.948-187T>C) c.3441+16646A>G (n.3441+16646A>G) c.*215T>C (n.*215T>C) c.1390T>C (p.Trp464Arg) c.276+16646A>G (n.276+16646A>G) c.*220+5898T>C (n.*220+5898T>C) c.514T>C (p.Trp172Arg) c.541T>C (p.Trp181Arg) c.1396T>C (p.Trp466Arg) c.1210T>C (p.Trp404Arg) c.1129T>C (p.Trp377Arg) c.835T>C (p.Trp279Arg) c.1216T>C (p.Trp406Arg) | ClinVar dbSNP gnomAD v4 |
2 | g.48688326A>T | CA346746813 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1471T>A (p.Trp491Arg) c.948-187T>A (n.948-187T>A) c.3441+16646A>T (n.3441+16646A>T) c.*215T>A (n.*215T>A) c.1390T>A (p.Trp464Arg) c.276+16646A>T (n.276+16646A>T) c.*220+5898T>A (n.*220+5898T>A) c.514T>A (p.Trp172Arg) c.541T>A (p.Trp181Arg) c.1396T>A (p.Trp466Arg) c.1210T>A (p.Trp404Arg) c.1129T>A (p.Trp377Arg) c.835T>A (p.Trp279Arg) c.1216T>A (p.Trp406Arg) |