Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.48687904T>A | CA346743916 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1893A>T (p.Gln631His) c.*205A>T (n.*205A>T) c.3441+16224T>A (n.3441+16224T>A) c.*637A>T (n.*637A>T) c.1812A>T (p.Gln604His) c.276+16224T>A (n.276+16224T>A) c.*220+6320A>T (n.*220+6320A>T) c.936A>T (p.Gln312His) c.963A>T (p.Gln321His) c.1818A>T (p.Gln606His) c.1632A>T (p.Gln544His) c.1551A>T (p.Gln517His) c.1257A>T (p.Gln419His) c.1638A>T (p.Gln546His) | |
2 | g.48687904T>C | CA426125358 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1893A>G (p.Gln631=) c.*205A>G (n.*205A>G) c.3441+16224T>C (n.3441+16224T>C) c.*637A>G (n.*637A>G) c.1812A>G (p.Gln604=) c.276+16224T>C (n.276+16224T>C) c.*220+6320A>G (n.*220+6320A>G) c.936A>G (p.Gln312=) c.963A>G (p.Gln321=) c.1818A>G (p.Gln606=) c.1632A>G (p.Gln544=) c.1551A>G (p.Gln517=) c.1257A>G (p.Gln419=) c.1638A>G (p.Gln546=) | |
2 | g.48687904T>G | CA346743918 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1893A>C (p.Gln631His) c.*205A>C (n.*205A>C) c.3441+16224T>G (n.3441+16224T>G) c.*637A>C (n.*637A>C) c.1812A>C (p.Gln604His) c.276+16224T>G (n.276+16224T>G) c.*220+6320A>C (n.*220+6320A>C) c.936A>C (p.Gln312His) c.963A>C (p.Gln321His) c.1818A>C (p.Gln606His) c.1632A>C (p.Gln544His) c.1551A>C (p.Gln517His) c.1257A>C (p.Gln419His) c.1638A>C (p.Gln546His) | |
2 | g.48687905T>A | CA346743920 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1892A>T (p.Gln631Leu) c.*204A>T (n.*204A>T) c.3441+16225T>A (n.3441+16225T>A) c.*636A>T (n.*636A>T) c.1811A>T (p.Gln604Leu) c.276+16225T>A (n.276+16225T>A) c.*220+6319A>T (n.*220+6319A>T) c.935A>T (p.Gln312Leu) c.962A>T (p.Gln321Leu) c.1817A>T (p.Gln606Leu) c.1631A>T (p.Gln544Leu) c.1550A>T (p.Gln517Leu) c.1256A>T (p.Gln419Leu) c.1637A>T (p.Gln546Leu) | |
2 | g.48687905T>C | CA346743923 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1892A>G (p.Gln631Arg) c.*204A>G (n.*204A>G) c.3441+16225T>C (n.3441+16225T>C) c.*636A>G (n.*636A>G) c.1811A>G (p.Gln604Arg) c.276+16225T>C (n.276+16225T>C) c.*220+6319A>G (n.*220+6319A>G) c.935A>G (p.Gln312Arg) c.962A>G (p.Gln321Arg) c.1817A>G (p.Gln606Arg) c.1631A>G (p.Gln544Arg) c.1550A>G (p.Gln517Arg) c.1256A>G (p.Gln419Arg) c.1637A>G (p.Gln546Arg) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48687905T>G | CA346743925 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1892A>C (p.Gln631Pro) c.*204A>C (n.*204A>C) c.3441+16225T>G (n.3441+16225T>G) c.*636A>C (n.*636A>C) c.1811A>C (p.Gln604Pro) c.276+16225T>G (n.276+16225T>G) c.*220+6319A>C (n.*220+6319A>C) c.935A>C (p.Gln312Pro) c.962A>C (p.Gln321Pro) c.1817A>C (p.Gln606Pro) c.1631A>C (p.Gln544Pro) c.1550A>C (p.Gln517Pro) c.1256A>C (p.Gln419Pro) c.1637A>C (p.Gln546Pro) | |
2 | g.48687905T= | CA1248600899 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1892A= (p.Gln631=) c.*204A= (n.*204A=) c.3441+16225T= (n.3441+16225T=) c.*636A= (n.*636A=) c.1811A= (p.Gln604=) c.276+16225T= (n.276+16225T=) c.*220+6319A= (n.*220+6319A=) c.935A= (p.Gln312=) c.962A= (p.Gln321=) c.1817A= (p.Gln606=) c.1631A= (p.Gln544=) c.1550A= (p.Gln517=) c.1256A= (p.Gln419=) c.1637A= (p.Gln546=) | |
2 | g.48687906G>A | CA346743936 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1891C>T (p.Gln631Ter) c.*203C>T (n.*203C>T) c.3441+16226G>A (n.3441+16226G>A) c.*635C>T (n.*635C>T) c.1810C>T (p.Gln604Ter) c.276+16226G>A (n.276+16226G>A) c.*220+6318C>T (n.*220+6318C>T) c.934C>T (p.Gln312Ter) c.961C>T (p.Gln321Ter) c.1816C>T (p.Gln606Ter) c.1630C>T (p.Gln544Ter) c.1549C>T (p.Gln517Ter) c.1255C>T (p.Gln419Ter) c.1636C>T (p.Gln546Ter) | |
2 | g.48687906G>C | CA346743938 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1891C>G (p.Gln631Glu) c.*203C>G (n.*203C>G) c.3441+16226G>C (n.3441+16226G>C) c.*635C>G (n.*635C>G) c.1810C>G (p.Gln604Glu) c.276+16226G>C (n.276+16226G>C) c.*220+6318C>G (n.*220+6318C>G) c.934C>G (p.Gln312Glu) c.961C>G (p.Gln321Glu) c.1816C>G (p.Gln606Glu) c.1630C>G (p.Gln544Glu) c.1549C>G (p.Gln517Glu) c.1255C>G (p.Gln419Glu) c.1636C>G (p.Gln546Glu) | |
2 | g.48687906G>T | CA346743946 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1891C>A (p.Gln631Lys) c.*203C>A (n.*203C>A) c.3441+16226G>T (n.3441+16226G>T) c.*635C>A (n.*635C>A) c.1810C>A (p.Gln604Lys) c.276+16226G>T (n.276+16226G>T) c.*220+6318C>A (n.*220+6318C>A) c.934C>A (p.Gln312Lys) c.961C>A (p.Gln321Lys) c.1816C>A (p.Gln606Lys) c.1630C>A (p.Gln544Lys) c.1549C>A (p.Gln517Lys) c.1255C>A (p.Gln419Lys) c.1636C>A (p.Gln546Lys) | |
2 | g.48687907G>A | CA426125366 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1890C>T (p.Phe630=) c.*202C>T (n.*202C>T) c.3441+16227G>A (n.3441+16227G>A) c.*634C>T (n.*634C>T) c.1809C>T (p.Phe603=) c.276+16227G>A (n.276+16227G>A) c.*220+6317C>T (n.*220+6317C>T) c.933C>T (p.Phe311=) c.960C>T (p.Phe320=) c.1815C>T (p.Phe605=) c.1629C>T (p.Phe543=) c.1548C>T (p.Phe516=) c.1254C>T (p.Phe418=) c.1635C>T (p.Phe545=) | COSMIC |
2 | g.48687907G>C | CA346743949 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1890C>G (p.Phe630Leu) c.*202C>G (n.*202C>G) c.3441+16227G>C (n.3441+16227G>C) c.*634C>G (n.*634C>G) c.1809C>G (p.Phe603Leu) c.276+16227G>C (n.276+16227G>C) c.*220+6317C>G (n.*220+6317C>G) c.933C>G (p.Phe311Leu) c.960C>G (p.Phe320Leu) c.1815C>G (p.Phe605Leu) c.1629C>G (p.Phe543Leu) c.1548C>G (p.Phe516Leu) c.1254C>G (p.Phe418Leu) c.1635C>G (p.Phe545Leu) | |
2 | g.48687907G>T | CA346743957 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1890C>A (p.Phe630Leu) c.*202C>A (n.*202C>A) c.3441+16227G>T (n.3441+16227G>T) c.*634C>A (n.*634C>A) c.1809C>A (p.Phe603Leu) c.276+16227G>T (n.276+16227G>T) c.*220+6317C>A (n.*220+6317C>A) c.933C>A (p.Phe311Leu) c.960C>A (p.Phe320Leu) c.1815C>A (p.Phe605Leu) c.1629C>A (p.Phe543Leu) c.1548C>A (p.Phe516Leu) c.1254C>A (p.Phe418Leu) c.1635C>A (p.Phe545Leu) | |
2 | g.48687908A>C | CA346743962 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1889T>G (p.Phe630Cys) c.*201T>G (n.*201T>G) c.3441+16228A>C (n.3441+16228A>C) c.*633T>G (n.*633T>G) c.1808T>G (p.Phe603Cys) c.276+16228A>C (n.276+16228A>C) c.*220+6316T>G (n.*220+6316T>G) c.932T>G (p.Phe311Cys) c.959T>G (p.Phe320Cys) c.1814T>G (p.Phe605Cys) c.1628T>G (p.Phe543Cys) c.1547T>G (p.Phe516Cys) c.1253T>G (p.Phe418Cys) c.1634T>G (p.Phe545Cys) | |
2 | g.48687908A>G | CA346743964 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1889T>C (p.Phe630Ser) c.*201T>C (n.*201T>C) c.3441+16228A>G (n.3441+16228A>G) c.*633T>C (n.*633T>C) c.1808T>C (p.Phe603Ser) c.276+16228A>G (n.276+16228A>G) c.*220+6316T>C (n.*220+6316T>C) c.932T>C (p.Phe311Ser) c.959T>C (p.Phe320Ser) c.1814T>C (p.Phe605Ser) c.1628T>C (p.Phe543Ser) c.1547T>C (p.Phe516Ser) c.1253T>C (p.Phe418Ser) c.1634T>C (p.Phe545Ser) | |
2 | g.48687908A>T | CA346743959 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1889T>A (p.Phe630Tyr) c.*201T>A (n.*201T>A) c.3441+16228A>T (n.3441+16228A>T) c.*633T>A (n.*633T>A) c.1808T>A (p.Phe603Tyr) c.276+16228A>T (n.276+16228A>T) c.*220+6316T>A (n.*220+6316T>A) c.932T>A (p.Phe311Tyr) c.959T>A (p.Phe320Tyr) c.1814T>A (p.Phe605Tyr) c.1628T>A (p.Phe543Tyr) c.1547T>A (p.Phe516Tyr) c.1253T>A (p.Phe418Tyr) c.1634T>A (p.Phe545Tyr) | |
2 | g.48687909A>C | CA346743966 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1888T>G (p.Phe630Val) c.*200T>G (n.*200T>G) c.3441+16229A>C (n.3441+16229A>C) c.*632T>G (n.*632T>G) c.1807T>G (p.Phe603Val) c.276+16229A>C (n.276+16229A>C) c.*220+6315T>G (n.*220+6315T>G) c.931T>G (p.Phe311Val) c.958T>G (p.Phe320Val) c.1813T>G (p.Phe605Val) c.1627T>G (p.Phe543Val) c.1546T>G (p.Phe516Val) c.1252T>G (p.Phe418Val) c.1633T>G (p.Phe545Val) | |
2 | g.48687909A>G | CA346743967 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1888T>C (p.Phe630Leu) c.*200T>C (n.*200T>C) c.3441+16229A>G (n.3441+16229A>G) c.*632T>C (n.*632T>C) c.1807T>C (p.Phe603Leu) c.276+16229A>G (n.276+16229A>G) c.*220+6315T>C (n.*220+6315T>C) c.931T>C (p.Phe311Leu) c.958T>C (p.Phe320Leu) c.1813T>C (p.Phe605Leu) c.1627T>C (p.Phe543Leu) c.1546T>C (p.Phe516Leu) c.1252T>C (p.Phe418Leu) c.1633T>C (p.Phe545Leu) | |
2 | g.48687909A>T | CA346743970 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1888T>A (p.Phe630Ile) c.*200T>A (n.*200T>A) c.3441+16229A>T (n.3441+16229A>T) c.*632T>A (n.*632T>A) c.1807T>A (p.Phe603Ile) c.276+16229A>T (n.276+16229A>T) c.*220+6315T>A (n.*220+6315T>A) c.931T>A (p.Phe311Ile) c.958T>A (p.Phe320Ile) c.1813T>A (p.Phe605Ile) c.1627T>A (p.Phe543Ile) c.1546T>A (p.Phe516Ile) c.1252T>A (p.Phe418Ile) c.1633T>A (p.Phe545Ile) | |
2 | g.48687910T>A | CA426125373 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1887A>T (p.Thr629=) c.*199A>T (n.*199A>T) c.3441+16230T>A (n.3441+16230T>A) c.*631A>T (n.*631A>T) c.1806A>T (p.Thr602=) c.276+16230T>A (n.276+16230T>A) c.*220+6314A>T (n.*220+6314A>T) c.930A>T (p.Thr310=) c.957A>T (p.Thr319=) c.1812A>T (p.Thr604=) c.1626A>T (p.Thr542=) c.1545A>T (p.Thr515=) c.1251A>T (p.Thr417=) c.1632A>T (p.Thr544=) | |
2 | g.48687910T>C | CA426125374 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1887A>G (p.Thr629=) c.*199A>G (n.*199A>G) c.3441+16230T>C (n.3441+16230T>C) c.*631A>G (n.*631A>G) c.1806A>G (p.Thr602=) c.276+16230T>C (n.276+16230T>C) c.*220+6314A>G (n.*220+6314A>G) c.930A>G (p.Thr310=) c.957A>G (p.Thr319=) c.1812A>G (p.Thr604=) c.1626A>G (p.Thr542=) c.1545A>G (p.Thr515=) c.1251A>G (p.Thr417=) c.1632A>G (p.Thr544=) | |
2 | g.48687910T>G | CA426125375 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1887A>C (p.Thr629=) c.*199A>C (n.*199A>C) c.3441+16230T>G (n.3441+16230T>G) c.*631A>C (n.*631A>C) c.1806A>C (p.Thr602=) c.276+16230T>G (n.276+16230T>G) c.*220+6314A>C (n.*220+6314A>C) c.930A>C (p.Thr310=) c.957A>C (p.Thr319=) c.1812A>C (p.Thr604=) c.1626A>C (p.Thr542=) c.1545A>C (p.Thr515=) c.1251A>C (p.Thr417=) c.1632A>C (p.Thr544=) | |
2 | g.48687911G>A | CA346743972 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1886C>T (p.Thr629Ile) c.*198C>T (n.*198C>T) c.3441+16231G>A (n.3441+16231G>A) c.*630C>T (n.*630C>T) c.1805C>T (p.Thr602Ile) c.276+16231G>A (n.276+16231G>A) c.*220+6313C>T (n.*220+6313C>T) c.929C>T (p.Thr310Ile) c.956C>T (p.Thr319Ile) c.1811C>T (p.Thr604Ile) c.1625C>T (p.Thr542Ile) c.1544C>T (p.Thr515Ile) c.1250C>T (p.Thr417Ile) c.1631C>T (p.Thr544Ile) | gnomAD v4 |
2 | g.48687911G>C | CA346743973 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1886C>G (p.Thr629Arg) c.*198C>G (n.*198C>G) c.3441+16231G>C (n.3441+16231G>C) c.*630C>G (n.*630C>G) c.1805C>G (p.Thr602Arg) c.276+16231G>C (n.276+16231G>C) c.*220+6313C>G (n.*220+6313C>G) c.929C>G (p.Thr310Arg) c.956C>G (p.Thr319Arg) c.1811C>G (p.Thr604Arg) c.1625C>G (p.Thr542Arg) c.1544C>G (p.Thr515Arg) c.1250C>G (p.Thr417Arg) c.1631C>G (p.Thr544Arg) | |
2 | g.48687911G>T | CA346743976 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1886C>A (p.Thr629Lys) c.*198C>A (n.*198C>A) c.3441+16231G>T (n.3441+16231G>T) c.*630C>A (n.*630C>A) c.1805C>A (p.Thr602Lys) c.276+16231G>T (n.276+16231G>T) c.*220+6313C>A (n.*220+6313C>A) c.929C>A (p.Thr310Lys) c.956C>A (p.Thr319Lys) c.1811C>A (p.Thr604Lys) c.1625C>A (p.Thr542Lys) c.1544C>A (p.Thr515Lys) c.1250C>A (p.Thr417Lys) c.1631C>A (p.Thr544Lys) | |
2 | g.48687912T>A | CA346743977 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1885A>T (p.Thr629Ser) c.*197A>T (n.*197A>T) c.3441+16232T>A (n.3441+16232T>A) c.*629A>T (n.*629A>T) c.1804A>T (p.Thr602Ser) c.276+16232T>A (n.276+16232T>A) c.*220+6312A>T (n.*220+6312A>T) c.928A>T (p.Thr310Ser) c.955A>T (p.Thr319Ser) c.1810A>T (p.Thr604Ser) c.1624A>T (p.Thr542Ser) c.1543A>T (p.Thr515Ser) c.1249A>T (p.Thr417Ser) c.1630A>T (p.Thr544Ser) | |
2 | g.48687912T>C | CA346743979 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1885A>G (p.Thr629Ala) c.*197A>G (n.*197A>G) c.3441+16232T>C (n.3441+16232T>C) c.*629A>G (n.*629A>G) c.1804A>G (p.Thr602Ala) c.276+16232T>C (n.276+16232T>C) c.*220+6312A>G (n.*220+6312A>G) c.928A>G (p.Thr310Ala) c.955A>G (p.Thr319Ala) c.1810A>G (p.Thr604Ala) c.1624A>G (p.Thr542Ala) c.1543A>G (p.Thr515Ala) c.1249A>G (p.Thr417Ala) c.1630A>G (p.Thr544Ala) | gnomAD v4 |
2 | g.48687912T>G | CA346743978 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1885A>C (p.Thr629Pro) c.*197A>C (n.*197A>C) c.3441+16232T>G (n.3441+16232T>G) c.*629A>C (n.*629A>C) c.1804A>C (p.Thr602Pro) c.276+16232T>G (n.276+16232T>G) c.*220+6312A>C (n.*220+6312A>C) c.928A>C (p.Thr310Pro) c.955A>C (p.Thr319Pro) c.1810A>C (p.Thr604Pro) c.1624A>C (p.Thr542Pro) c.1543A>C (p.Thr515Pro) c.1249A>C (p.Thr417Pro) c.1630A>C (p.Thr544Pro) | |
2 | g.48687913C>A | CA346743980 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1884G>T (p.Lys628Asn) c.*196G>T (n.*196G>T) c.3441+16233C>A (n.3441+16233C>A) c.*628G>T (n.*628G>T) c.1803G>T (p.Lys601Asn) c.276+16233C>A (n.276+16233C>A) c.*220+6311G>T (n.*220+6311G>T) c.927G>T (p.Lys309Asn) c.954G>T (p.Lys318Asn) c.1809G>T (p.Lys603Asn) c.1623G>T (p.Lys541Asn) c.1542G>T (p.Lys514Asn) c.1248G>T (p.Lys416Asn) c.1629G>T (p.Lys543Asn) | |
2 | g.48687913C>G | CA346743981 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1884G>C (p.Lys628Asn) c.*196G>C (n.*196G>C) c.3441+16233C>G (n.3441+16233C>G) c.*628G>C (n.*628G>C) c.1803G>C (p.Lys601Asn) c.276+16233C>G (n.276+16233C>G) c.*220+6311G>C (n.*220+6311G>C) c.927G>C (p.Lys309Asn) c.954G>C (p.Lys318Asn) c.1809G>C (p.Lys603Asn) c.1623G>C (p.Lys541Asn) c.1542G>C (p.Lys514Asn) c.1248G>C (p.Lys416Asn) c.1629G>C (p.Lys543Asn) | gnomAD v4 |
2 | g.48687913C>T | CA426125382 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1884G>A (p.Lys628=) c.*196G>A (n.*196G>A) c.3441+16233C>T (n.3441+16233C>T) c.*628G>A (n.*628G>A) c.1803G>A (p.Lys601=) c.276+16233C>T (n.276+16233C>T) c.*220+6311G>A (n.*220+6311G>A) c.927G>A (p.Lys309=) c.954G>A (p.Lys318=) c.1809G>A (p.Lys603=) c.1623G>A (p.Lys541=) c.1542G>A (p.Lys514=) c.1248G>A (p.Lys416=) c.1629G>A (p.Lys543=) | |
2 | g.48687914T>A | CA346743983 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1883A>T (p.Lys628Met) c.*195A>T (n.*195A>T) c.3441+16234T>A (n.3441+16234T>A) c.*627A>T (n.*627A>T) c.1802A>T (p.Lys601Met) c.276+16234T>A (n.276+16234T>A) c.*220+6310A>T (n.*220+6310A>T) c.926A>T (p.Lys309Met) c.953A>T (p.Lys318Met) c.1808A>T (p.Lys603Met) c.1622A>T (p.Lys541Met) c.1541A>T (p.Lys514Met) c.1247A>T (p.Lys416Met) c.1628A>T (p.Lys543Met) | |
2 | g.48687914T>C | CA346743985 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1883A>G (p.Lys628Arg) c.*195A>G (n.*195A>G) c.3441+16234T>C (n.3441+16234T>C) c.*627A>G (n.*627A>G) c.1802A>G (p.Lys601Arg) c.276+16234T>C (n.276+16234T>C) c.*220+6310A>G (n.*220+6310A>G) c.926A>G (p.Lys309Arg) c.953A>G (p.Lys318Arg) c.1808A>G (p.Lys603Arg) c.1622A>G (p.Lys541Arg) c.1541A>G (p.Lys514Arg) c.1247A>G (p.Lys416Arg) c.1628A>G (p.Lys543Arg) | |
2 | g.48687914T>G | CA346743987 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1883A>C (p.Lys628Thr) c.*195A>C (n.*195A>C) c.3441+16234T>G (n.3441+16234T>G) c.*627A>C (n.*627A>C) c.1802A>C (p.Lys601Thr) c.276+16234T>G (n.276+16234T>G) c.*220+6310A>C (n.*220+6310A>C) c.926A>C (p.Lys309Thr) c.953A>C (p.Lys318Thr) c.1808A>C (p.Lys603Thr) c.1622A>C (p.Lys541Thr) c.1541A>C (p.Lys514Thr) c.1247A>C (p.Lys416Thr) c.1628A>C (p.Lys543Thr) | |
2 | g.48687915T>A | CA346743996 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1882A>T (p.Lys628Ter) c.*194A>T (n.*194A>T) c.3441+16235T>A (n.3441+16235T>A) c.*626A>T (n.*626A>T) c.1801A>T (p.Lys601Ter) c.276+16235T>A (n.276+16235T>A) c.*220+6309A>T (n.*220+6309A>T) c.925A>T (p.Lys309Ter) c.952A>T (p.Lys318Ter) c.1807A>T (p.Lys603Ter) c.1621A>T (p.Lys541Ter) c.1540A>T (p.Lys514Ter) c.1246A>T (p.Lys416Ter) c.1627A>T (p.Lys543Ter) | |
2 | g.48687915T>C | CA346743999 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1882A>G (p.Lys628Glu) c.*194A>G (n.*194A>G) c.3441+16235T>C (n.3441+16235T>C) c.*626A>G (n.*626A>G) c.1801A>G (p.Lys601Glu) c.276+16235T>C (n.276+16235T>C) c.*220+6309A>G (n.*220+6309A>G) c.925A>G (p.Lys309Glu) c.952A>G (p.Lys318Glu) c.1807A>G (p.Lys603Glu) c.1621A>G (p.Lys541Glu) c.1540A>G (p.Lys514Glu) c.1246A>G (p.Lys416Glu) c.1627A>G (p.Lys543Glu) | |
2 | g.48687915T>G | CA346743995 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1882A>C (p.Lys628Gln) c.*194A>C (n.*194A>C) c.3441+16235T>G (n.3441+16235T>G) c.*626A>C (n.*626A>C) c.1801A>C (p.Lys601Gln) c.276+16235T>G (n.276+16235T>G) c.*220+6309A>C (n.*220+6309A>C) c.925A>C (p.Lys309Gln) c.952A>C (p.Lys318Gln) c.1807A>C (p.Lys603Gln) c.1621A>C (p.Lys541Gln) c.1540A>C (p.Lys514Gln) c.1246A>C (p.Lys416Gln) c.1627A>C (p.Lys543Gln) | |
2 | g.48687916A>C | CA426125394 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1881T>G (p.Thr627=) c.*193T>G (n.*193T>G) c.3441+16236A>C (n.3441+16236A>C) c.*625T>G (n.*625T>G) c.1800T>G (p.Thr600=) c.276+16236A>C (n.276+16236A>C) c.*220+6308T>G (n.*220+6308T>G) c.924T>G (p.Thr308=) c.951T>G (p.Thr317=) c.1806T>G (p.Thr602=) c.1620T>G (p.Thr540=) c.1539T>G (p.Thr513=) c.1245T>G (p.Thr415=) c.1626T>G (p.Thr542=) | |
2 | g.48687916A>G | CA426125395 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1881T>C (p.Thr627=) c.*193T>C (n.*193T>C) c.3441+16236A>G (n.3441+16236A>G) c.*625T>C (n.*625T>C) c.1800T>C (p.Thr600=) c.276+16236A>G (n.276+16236A>G) c.*220+6308T>C (n.*220+6308T>C) c.924T>C (p.Thr308=) c.951T>C (p.Thr317=) c.1806T>C (p.Thr602=) c.1620T>C (p.Thr540=) c.1539T>C (p.Thr513=) c.1245T>C (p.Thr415=) c.1626T>C (p.Thr542=) | |
2 | g.48687916A>T | CA426125396 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1881T>A (p.Thr627=) c.*193T>A (n.*193T>A) c.3441+16236A>T (n.3441+16236A>T) c.*625T>A (n.*625T>A) c.1800T>A (p.Thr600=) c.276+16236A>T (n.276+16236A>T) c.*220+6308T>A (n.*220+6308T>A) c.924T>A (p.Thr308=) c.951T>A (p.Thr317=) c.1806T>A (p.Thr602=) c.1620T>A (p.Thr540=) c.1539T>A (p.Thr513=) c.1245T>A (p.Thr415=) c.1626T>A (p.Thr542=) | |
2 | g.48687917G>A | CA346744001 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1880C>T (p.Thr627Ile) c.*192C>T (n.*192C>T) c.3441+16237G>A (n.3441+16237G>A) c.*624C>T (n.*624C>T) c.1799C>T (p.Thr600Ile) c.276+16237G>A (n.276+16237G>A) c.*220+6307C>T (n.*220+6307C>T) c.923C>T (p.Thr308Ile) c.950C>T (p.Thr317Ile) c.1805C>T (p.Thr602Ile) c.1619C>T (p.Thr540Ile) c.1538C>T (p.Thr513Ile) c.1244C>T (p.Thr415Ile) c.1625C>T (p.Thr542Ile) | |
2 | g.48687917G>C | CA346744003 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1880C>G (p.Thr627Ser) c.*192C>G (n.*192C>G) c.3441+16237G>C (n.3441+16237G>C) c.*624C>G (n.*624C>G) c.1799C>G (p.Thr600Ser) c.276+16237G>C (n.276+16237G>C) c.*220+6307C>G (n.*220+6307C>G) c.923C>G (p.Thr308Ser) c.950C>G (p.Thr317Ser) c.1805C>G (p.Thr602Ser) c.1619C>G (p.Thr540Ser) c.1538C>G (p.Thr513Ser) c.1244C>G (p.Thr415Ser) c.1625C>G (p.Thr542Ser) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48687917G= | CA1248600900 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1880C= (p.Thr627=) c.*192C= (n.*192C=) c.3441+16237G= (n.3441+16237G=) c.*624C= (n.*624C=) c.1799C= (p.Thr600=) c.276+16237G= (n.276+16237G=) c.*220+6307C= (n.*220+6307C=) c.923C= (p.Thr308=) c.950C= (p.Thr317=) c.1805C= (p.Thr602=) c.1619C= (p.Thr540=) c.1538C= (p.Thr513=) c.1244C= (p.Thr415=) c.1625C= (p.Thr542=) | |
2 | g.48687917G>T | CA346744005 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1880C>A (p.Thr627Asn) c.*192C>A (n.*192C>A) c.3441+16237G>T (n.3441+16237G>T) c.*624C>A (n.*624C>A) c.1799C>A (p.Thr600Asn) c.276+16237G>T (n.276+16237G>T) c.*220+6307C>A (n.*220+6307C>A) c.923C>A (p.Thr308Asn) c.950C>A (p.Thr317Asn) c.1805C>A (p.Thr602Asn) c.1619C>A (p.Thr540Asn) c.1538C>A (p.Thr513Asn) c.1244C>A (p.Thr415Asn) c.1625C>A (p.Thr542Asn) | |
2 | g.48687918T>A | CA346744007 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1879A>T (p.Thr627Ser) c.*191A>T (n.*191A>T) c.3441+16238T>A (n.3441+16238T>A) c.*623A>T (n.*623A>T) c.1798A>T (p.Thr600Ser) c.276+16238T>A (n.276+16238T>A) c.*220+6306A>T (n.*220+6306A>T) c.922A>T (p.Thr308Ser) c.949A>T (p.Thr317Ser) c.1804A>T (p.Thr602Ser) c.1618A>T (p.Thr540Ser) c.1537A>T (p.Thr513Ser) c.1243A>T (p.Thr415Ser) c.1624A>T (p.Thr542Ser) | |
2 | g.48687918T>C | CA346744009 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1879A>G (p.Thr627Ala) c.*191A>G (n.*191A>G) c.3441+16238T>C (n.3441+16238T>C) c.*623A>G (n.*623A>G) c.1798A>G (p.Thr600Ala) c.276+16238T>C (n.276+16238T>C) c.*220+6306A>G (n.*220+6306A>G) c.922A>G (p.Thr308Ala) c.949A>G (p.Thr317Ala) c.1804A>G (p.Thr602Ala) c.1618A>G (p.Thr540Ala) c.1537A>G (p.Thr513Ala) c.1243A>G (p.Thr415Ala) c.1624A>G (p.Thr542Ala) | |
2 | g.48687918T>G | CA346744010 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1879A>C (p.Thr627Pro) c.*191A>C (n.*191A>C) c.3441+16238T>G (n.3441+16238T>G) c.*623A>C (n.*623A>C) c.1798A>C (p.Thr600Pro) c.276+16238T>G (n.276+16238T>G) c.*220+6306A>C (n.*220+6306A>C) c.922A>C (p.Thr308Pro) c.949A>C (p.Thr317Pro) c.1804A>C (p.Thr602Pro) c.1618A>C (p.Thr540Pro) c.1537A>C (p.Thr513Pro) c.1243A>C (p.Thr415Pro) c.1624A>C (p.Thr542Pro) | |
2 | g.48687919G>A | CA426125399 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1878C>T (p.Phe626=) c.*190C>T (n.*190C>T) c.3441+16239G>A (n.3441+16239G>A) c.*622C>T (n.*622C>T) c.1797C>T (p.Phe599=) c.276+16239G>A (n.276+16239G>A) c.*220+6305C>T (n.*220+6305C>T) c.921C>T (p.Phe307=) c.948C>T (p.Phe316=) c.1803C>T (p.Phe601=) c.1617C>T (p.Phe539=) c.1536C>T (p.Phe512=) c.1242C>T (p.Phe414=) c.1623C>T (p.Phe541=) | dbSNP COSMIC |
2 | g.48687919G>C | CA346744012 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1878C>G (p.Phe626Leu) c.*190C>G (n.*190C>G) c.3441+16239G>C (n.3441+16239G>C) c.*622C>G (n.*622C>G) c.1797C>G (p.Phe599Leu) c.276+16239G>C (n.276+16239G>C) c.*220+6305C>G (n.*220+6305C>G) c.921C>G (p.Phe307Leu) c.948C>G (p.Phe316Leu) c.1803C>G (p.Phe601Leu) c.1617C>G (p.Phe539Leu) c.1536C>G (p.Phe512Leu) c.1242C>G (p.Phe414Leu) c.1623C>G (p.Phe541Leu) | |
2 | g.48687919G= | CA1248600901 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1878C= (p.Phe626=) c.*190C= (n.*190C=) c.3441+16239G= (n.3441+16239G=) c.*622C= (n.*622C=) c.1797C= (p.Phe599=) c.276+16239G= (n.276+16239G=) c.*220+6305C= (n.*220+6305C=) c.921C= (p.Phe307=) c.948C= (p.Phe316=) c.1803C= (p.Phe601=) c.1617C= (p.Phe539=) c.1536C= (p.Phe512=) c.1242C= (p.Phe414=) c.1623C= (p.Phe541=) | |
2 | g.48687919G>T | CA346744014 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1878C>A (p.Phe626Leu) c.*190C>A (n.*190C>A) c.3441+16239G>T (n.3441+16239G>T) c.*622C>A (n.*622C>A) c.1797C>A (p.Phe599Leu) c.276+16239G>T (n.276+16239G>T) c.*220+6305C>A (n.*220+6305C>A) c.921C>A (p.Phe307Leu) c.948C>A (p.Phe316Leu) c.1803C>A (p.Phe601Leu) c.1617C>A (p.Phe539Leu) c.1536C>A (p.Phe512Leu) c.1242C>A (p.Phe414Leu) c.1623C>A (p.Phe541Leu) | |
2 | g.48687920A>C | CA346744025 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1877T>G (p.Phe626Cys) c.*189T>G (n.*189T>G) c.3441+16240A>C (n.3441+16240A>C) c.*621T>G (n.*621T>G) c.1796T>G (p.Phe599Cys) c.276+16240A>C (n.276+16240A>C) c.*220+6304T>G (n.*220+6304T>G) c.920T>G (p.Phe307Cys) c.947T>G (p.Phe316Cys) c.1802T>G (p.Phe601Cys) c.1616T>G (p.Phe539Cys) c.1535T>G (p.Phe512Cys) c.1241T>G (p.Phe414Cys) c.1622T>G (p.Phe541Cys) | |
2 | g.48687920A>G | CA346744031 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1877T>C (p.Phe626Ser) c.*189T>C (n.*189T>C) c.3441+16240A>G (n.3441+16240A>G) c.*621T>C (n.*621T>C) c.1796T>C (p.Phe599Ser) c.276+16240A>G (n.276+16240A>G) c.*220+6304T>C (n.*220+6304T>C) c.920T>C (p.Phe307Ser) c.947T>C (p.Phe316Ser) c.1802T>C (p.Phe601Ser) c.1616T>C (p.Phe539Ser) c.1535T>C (p.Phe512Ser) c.1241T>C (p.Phe414Ser) c.1622T>C (p.Phe541Ser) | |
2 | g.48687920A>T | CA346744027 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1877T>A (p.Phe626Tyr) c.*189T>A (n.*189T>A) c.3441+16240A>T (n.3441+16240A>T) c.*621T>A (n.*621T>A) c.1796T>A (p.Phe599Tyr) c.276+16240A>T (n.276+16240A>T) c.*220+6304T>A (n.*220+6304T>A) c.920T>A (p.Phe307Tyr) c.947T>A (p.Phe316Tyr) c.1802T>A (p.Phe601Tyr) c.1616T>A (p.Phe539Tyr) c.1535T>A (p.Phe512Tyr) c.1241T>A (p.Phe414Tyr) c.1622T>A (p.Phe541Tyr) | |
2 | g.48687920_48687922delinsAAT | CA1248600902 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1875_1877delinsATT (p.Ile625=) c.*187_*189delinsATT (n.*187_*189delinsATT) c.3441+16240_3441+16242delinsAAT (n.3441+16240_3441+16242delinsAAT) c.*619_*621delinsATT (n.*619_*621delinsATT) c.1794_1796delinsATT (p.Ile598=) c.276+16240_276+16242delinsAAT (n.276+16240_276+16242delinsAAT) c.*220+6302_*220+6304delinsATT (n.*220+6302_*220+6304delinsATT) c.918_920delinsATT (p.Ile306=) c.945_947delinsATT (p.Ile315=) c.1800_1802delinsATT (p.Ile600=) c.1614_1616delinsATT (p.Ile538=) c.1533_1535delinsATT (p.Ile511=) c.1239_1241delinsATT (p.Ile413=) c.1620_1622delinsATT (p.Ile540=) | |
2 | g.48687921A>C | CA346744034 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1876T>G (p.Phe626Val) c.*188T>G (n.*188T>G) c.3441+16241A>C (n.3441+16241A>C) c.*620T>G (n.*620T>G) c.1795T>G (p.Phe599Val) c.276+16241A>C (n.276+16241A>C) c.*220+6303T>G (n.*220+6303T>G) c.919T>G (p.Phe307Val) c.946T>G (p.Phe316Val) c.1801T>G (p.Phe601Val) c.1615T>G (p.Phe539Val) c.1534T>G (p.Phe512Val) c.1240T>G (p.Phe414Val) c.1621T>G (p.Phe541Val) | |
2 | g.48687921A>G | CA346744035 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1876T>C (p.Phe626Leu) c.*188T>C (n.*188T>C) c.3441+16241A>G (n.3441+16241A>G) c.*620T>C (n.*620T>C) c.1795T>C (p.Phe599Leu) c.276+16241A>G (n.276+16241A>G) c.*220+6303T>C (n.*220+6303T>C) c.919T>C (p.Phe307Leu) c.946T>C (p.Phe316Leu) c.1801T>C (p.Phe601Leu) c.1615T>C (p.Phe539Leu) c.1534T>C (p.Phe512Leu) c.1240T>C (p.Phe414Leu) c.1621T>C (p.Phe541Leu) | |
2 | g.48687921A>T | CA346744037 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1876T>A (p.Phe626Ile) c.*188T>A (n.*188T>A) c.3441+16241A>T (n.3441+16241A>T) c.*620T>A (n.*620T>A) c.1795T>A (p.Phe599Ile) c.276+16241A>T (n.276+16241A>T) c.*220+6303T>A (n.*220+6303T>A) c.919T>A (p.Phe307Ile) c.946T>A (p.Phe316Ile) c.1801T>A (p.Phe601Ile) c.1615T>A (p.Phe539Ile) c.1534T>A (p.Phe512Ile) c.1240T>A (p.Phe414Ile) c.1621T>A (p.Phe541Ile) | |
2 | g.48687923_48687924del | CA532706160 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1875_1876del (p.Phe626HisfsTer2) c.*187_*188del (n.*187_*188del) c.3441+16243_3441+16244del (n.3441+16243_3441+16244del) c.*619_*620del (n.*619_*620del) c.1794_1795del (p.Phe599HisfsTer2) c.276+16243_276+16244del (n.276+16243_276+16244del) c.*220+6302_*220+6303del (n.*220+6302_*220+6303del) c.918_919del (p.Phe307HisfsTer2) c.945_946del (p.Phe316HisfsTer2) c.1800_1801del (p.Phe601HisfsTer2) c.1614_1615del (p.Phe539HisfsTer2) c.1533_1534del (p.Phe512HisfsTer2) c.1239_1240del (p.Phe414HisfsTer2) c.1620_1621del (p.Phe541HisfsTer2) | dbSNP gnomAD v2 |
2 | g.48687922T>A | CA1652973 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1875A>T (p.Ile625=) c.*187A>T (n.*187A>T) c.3441+16242T>A (n.3441+16242T>A) c.*619A>T (n.*619A>T) c.1794A>T (p.Ile598=) c.276+16242T>A (n.276+16242T>A) c.*220+6302A>T (n.*220+6302A>T) c.918A>T (p.Ile306=) c.945A>T (p.Ile315=) c.1800A>T (p.Ile600=) c.1614A>T (p.Ile538=) c.1533A>T (p.Ile511=) c.1239A>T (p.Ile413=) c.1620A>T (p.Ile540=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48687922T>C | CA346744038 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1875A>G (p.Ile625Met) c.*187A>G (n.*187A>G) c.3441+16242T>C (n.3441+16242T>C) c.*619A>G (n.*619A>G) c.1794A>G (p.Ile598Met) c.276+16242T>C (n.276+16242T>C) c.*220+6302A>G (n.*220+6302A>G) c.918A>G (p.Ile306Met) c.945A>G (p.Ile315Met) c.1800A>G (p.Ile600Met) c.1614A>G (p.Ile538Met) c.1533A>G (p.Ile511Met) c.1239A>G (p.Ile413Met) c.1620A>G (p.Ile540Met) | |
2 | g.48687922T>G | CA426125415 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1875A>C (p.Ile625=) c.*187A>C (n.*187A>C) c.3441+16242T>G (n.3441+16242T>G) c.*619A>C (n.*619A>C) c.1794A>C (p.Ile598=) c.276+16242T>G (n.276+16242T>G) c.*220+6302A>C (n.*220+6302A>C) c.918A>C (p.Ile306=) c.945A>C (p.Ile315=) c.1800A>C (p.Ile600=) c.1614A>C (p.Ile538=) c.1533A>C (p.Ile511=) c.1239A>C (p.Ile413=) c.1620A>C (p.Ile540=) | |
2 | g.48687922T= | CA1248600903 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1875A= (p.Ile625=) c.*187A= (n.*187A=) c.3441+16242T= (n.3441+16242T=) c.*619A= (n.*619A=) c.1794A= (p.Ile598=) c.276+16242T= (n.276+16242T=) c.*220+6302A= (n.*220+6302A=) c.918A= (p.Ile306=) c.945A= (p.Ile315=) c.1800A= (p.Ile600=) c.1614A= (p.Ile538=) c.1533A= (p.Ile511=) c.1239A= (p.Ile413=) c.1620A= (p.Ile540=) | |
2 | g.48687923A= | CA1248600904 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1874T= (p.Ile625=) c.*186T= (n.*186T=) c.3441+16243A= (n.3441+16243A=) c.*618T= (n.*618T=) c.1793T= (p.Ile598=) c.276+16243A= (n.276+16243A=) c.*220+6301T= (n.*220+6301T=) c.917T= (p.Ile306=) c.944T= (p.Ile315=) c.1799T= (p.Ile600=) c.1613T= (p.Ile538=) c.1532T= (p.Ile511=) c.1238T= (p.Ile413=) c.1619T= (p.Ile540=) | |
2 | g.48687923A>C | CA346744039 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1874T>G (p.Ile625Arg) c.*186T>G (n.*186T>G) c.3441+16243A>C (n.3441+16243A>C) c.*618T>G (n.*618T>G) c.1793T>G (p.Ile598Arg) c.276+16243A>C (n.276+16243A>C) c.*220+6301T>G (n.*220+6301T>G) c.917T>G (p.Ile306Arg) c.944T>G (p.Ile315Arg) c.1799T>G (p.Ile600Arg) c.1613T>G (p.Ile538Arg) c.1532T>G (p.Ile511Arg) c.1238T>G (p.Ile413Arg) c.1619T>G (p.Ile540Arg) | |
2 | g.48687923A>G | CA346744041 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1874T>C (p.Ile625Thr) c.*186T>C (n.*186T>C) c.3441+16243A>G (n.3441+16243A>G) c.*618T>C (n.*618T>C) c.1793T>C (p.Ile598Thr) c.276+16243A>G (n.276+16243A>G) c.*220+6301T>C (n.*220+6301T>C) c.917T>C (p.Ile306Thr) c.944T>C (p.Ile315Thr) c.1799T>C (p.Ile600Thr) c.1613T>C (p.Ile538Thr) c.1532T>C (p.Ile511Thr) c.1238T>C (p.Ile413Thr) c.1619T>C (p.Ile540Thr) | |
2 | g.48687923A>T | CA123928 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1874T>A (p.Ile625Lys) c.*186T>A (n.*186T>A) c.3441+16243A>T (n.3441+16243A>T) c.*618T>A (n.*618T>A) c.1793T>A (p.Ile598Lys) c.276+16243A>T (n.276+16243A>T) c.*220+6301T>A (n.*220+6301T>A) c.917T>A (p.Ile306Lys) c.944T>A (p.Ile315Lys) c.1799T>A (p.Ile600Lys) c.1613T>A (p.Ile538Lys) c.1532T>A (p.Ile511Lys) c.1238T>A (p.Ile413Lys) c.1619T>A (p.Ile540Lys) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
2 | g.48687924T>A | CA346744059 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1873A>T (p.Ile625Leu) c.*185A>T (n.*185A>T) c.3441+16244T>A (n.3441+16244T>A) c.*617A>T (n.*617A>T) c.1792A>T (p.Ile598Leu) c.276+16244T>A (n.276+16244T>A) c.*220+6300A>T (n.*220+6300A>T) c.916A>T (p.Ile306Leu) c.943A>T (p.Ile315Leu) c.1798A>T (p.Ile600Leu) c.1612A>T (p.Ile538Leu) c.1531A>T (p.Ile511Leu) c.1237A>T (p.Ile413Leu) c.1618A>T (p.Ile540Leu) | |
2 | g.48687924T>C | CA346744061 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1873A>G (p.Ile625Val) c.*185A>G (n.*185A>G) c.3441+16244T>C (n.3441+16244T>C) c.*617A>G (n.*617A>G) c.1792A>G (p.Ile598Val) c.276+16244T>C (n.276+16244T>C) c.*220+6300A>G (n.*220+6300A>G) c.916A>G (p.Ile306Val) c.943A>G (p.Ile315Val) c.1798A>G (p.Ile600Val) c.1612A>G (p.Ile538Val) c.1531A>G (p.Ile511Val) c.1237A>G (p.Ile413Val) c.1618A>G (p.Ile540Val) | gnomAD v4 |
2 | g.48687924T>G | CA346744063 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1873A>C (p.Ile625Leu) c.*185A>C (n.*185A>C) c.3441+16244T>G (n.3441+16244T>G) c.*617A>C (n.*617A>C) c.1792A>C (p.Ile598Leu) c.276+16244T>G (n.276+16244T>G) c.*220+6300A>C (n.*220+6300A>C) c.916A>C (p.Ile306Leu) c.943A>C (p.Ile315Leu) c.1798A>C (p.Ile600Leu) c.1612A>C (p.Ile538Leu) c.1531A>C (p.Ile511Leu) c.1237A>C (p.Ile413Leu) c.1618A>C (p.Ile540Leu) | |
2 | g.48687925T>A | CA426125423 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1872A>T (p.Ala624=) c.*184A>T (n.*184A>T) c.3441+16245T>A (n.3441+16245T>A) c.*616A>T (n.*616A>T) c.1791A>T (p.Ala597=) c.276+16245T>A (n.276+16245T>A) c.*220+6299A>T (n.*220+6299A>T) c.915A>T (p.Ala305=) c.942A>T (p.Ala314=) c.1797A>T (p.Ala599=) c.1611A>T (p.Ala537=) c.1530A>T (p.Ala510=) c.1236A>T (p.Ala412=) c.1617A>T (p.Ala539=) | |
2 | g.48687925T>C | CA426125424 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1872A>G (p.Ala624=) c.*184A>G (n.*184A>G) c.3441+16245T>C (n.3441+16245T>C) c.*616A>G (n.*616A>G) c.1791A>G (p.Ala597=) c.276+16245T>C (n.276+16245T>C) c.*220+6299A>G (n.*220+6299A>G) c.915A>G (p.Ala305=) c.942A>G (p.Ala314=) c.1797A>G (p.Ala599=) c.1611A>G (p.Ala537=) c.1530A>G (p.Ala510=) c.1236A>G (p.Ala412=) c.1617A>G (p.Ala539=) | |
2 | g.48687925T>G | CA426125425 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1872A>C (p.Ala624=) c.*184A>C (n.*184A>C) c.3441+16245T>G (n.3441+16245T>G) c.*616A>C (n.*616A>C) c.1791A>C (p.Ala597=) c.276+16245T>G (n.276+16245T>G) c.*220+6299A>C (n.*220+6299A>C) c.915A>C (p.Ala305=) c.942A>C (p.Ala314=) c.1797A>C (p.Ala599=) c.1611A>C (p.Ala537=) c.1530A>C (p.Ala510=) c.1236A>C (p.Ala412=) c.1617A>C (p.Ala539=) | |
2 | g.48687926G>A | CA346744066 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1871C>T (p.Ala624Val) c.*183C>T (n.*183C>T) c.3441+16246G>A (n.3441+16246G>A) c.*615C>T (n.*615C>T) c.1790C>T (p.Ala597Val) c.276+16246G>A (n.276+16246G>A) c.*220+6298C>T (n.*220+6298C>T) c.914C>T (p.Ala305Val) c.941C>T (p.Ala314Val) c.1796C>T (p.Ala599Val) c.1610C>T (p.Ala537Val) c.1529C>T (p.Ala510Val) c.1235C>T (p.Ala412Val) c.1616C>T (p.Ala539Val) | dbSNP |
2 | g.48687926G>C | CA346744067 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1871C>G (p.Ala624Gly) c.*183C>G (n.*183C>G) c.3441+16246G>C (n.3441+16246G>C) c.*615C>G (n.*615C>G) c.1790C>G (p.Ala597Gly) c.276+16246G>C (n.276+16246G>C) c.*220+6298C>G (n.*220+6298C>G) c.914C>G (p.Ala305Gly) c.941C>G (p.Ala314Gly) c.1796C>G (p.Ala599Gly) c.1610C>G (p.Ala537Gly) c.1529C>G (p.Ala510Gly) c.1235C>G (p.Ala412Gly) c.1616C>G (p.Ala539Gly) | |
2 | g.48687926G= | CA1248600905 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1871C= (p.Ala624=) c.*183C= (n.*183C=) c.3441+16246G= (n.3441+16246G=) c.*615C= (n.*615C=) c.1790C= (p.Ala597=) c.276+16246G= (n.276+16246G=) c.*220+6298C= (n.*220+6298C=) c.914C= (p.Ala305=) c.941C= (p.Ala314=) c.1796C= (p.Ala599=) c.1610C= (p.Ala537=) c.1529C= (p.Ala510=) c.1235C= (p.Ala412=) c.1616C= (p.Ala539=) | |
2 | g.48687926G>T | CA346744068 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1871C>A (p.Ala624Glu) c.*183C>A (n.*183C>A) c.3441+16246G>T (n.3441+16246G>T) c.*615C>A (n.*615C>A) c.1790C>A (p.Ala597Glu) c.276+16246G>T (n.276+16246G>T) c.*220+6298C>A (n.*220+6298C>A) c.914C>A (p.Ala305Glu) c.941C>A (p.Ala314Glu) c.1796C>A (p.Ala599Glu) c.1610C>A (p.Ala537Glu) c.1529C>A (p.Ala510Glu) c.1235C>A (p.Ala412Glu) c.1616C>A (p.Ala539Glu) | |
2 | g.48687926_48687927insTT | CA532706161 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1870_1871insAA (p.Ala624GlufsTer16) c.*182_*183insAA (n.*182_*183insAA) c.3441+16246_3441+16247insTT (n.3441+16246_3441+16247insTT) c.*614_*615insAA (n.*614_*615insAA) c.1789_1790insAA (p.Ala597GlufsTer16) c.276+16246_276+16247insTT (n.276+16246_276+16247insTT) c.*220+6297_*220+6298insAA (n.*220+6297_*220+6298insAA) c.913_914insAA (p.Ala305GlufsTer16) c.940_941insAA (p.Ala314GlufsTer16) c.1795_1796insAA (p.Ala599GlufsTer16) c.1609_1610insAA (p.Ala537GlufsTer16) c.1528_1529insAA (p.Ala510GlufsTer16) c.1234_1235insAA (p.Ala412GlufsTer16) c.1615_1616insAA (p.Ala539GlufsTer16) | dbSNP gnomAD v2 |
2 | g.48687927C>A | CA346744069 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1870G>T (p.Ala624Ser) c.*182G>T (n.*182G>T) c.3441+16247C>A (n.3441+16247C>A) c.*614G>T (n.*614G>T) c.1789G>T (p.Ala597Ser) c.276+16247C>A (n.276+16247C>A) c.*220+6297G>T (n.*220+6297G>T) c.913G>T (p.Ala305Ser) c.940G>T (p.Ala314Ser) c.1795G>T (p.Ala599Ser) c.1609G>T (p.Ala537Ser) c.1528G>T (p.Ala510Ser) c.1234G>T (p.Ala412Ser) c.1615G>T (p.Ala539Ser) | |
2 | g.48687927C>G | CA346744072 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1870G>C (p.Ala624Pro) c.*182G>C (n.*182G>C) c.3441+16247C>G (n.3441+16247C>G) c.*614G>C (n.*614G>C) c.1789G>C (p.Ala597Pro) c.276+16247C>G (n.276+16247C>G) c.*220+6297G>C (n.*220+6297G>C) c.913G>C (p.Ala305Pro) c.940G>C (p.Ala314Pro) c.1795G>C (p.Ala599Pro) c.1609G>C (p.Ala537Pro) c.1528G>C (p.Ala510Pro) c.1234G>C (p.Ala412Pro) c.1615G>C (p.Ala539Pro) | |
2 | g.48687927C>T | CA346744076 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1870G>A (p.Ala624Thr) c.*182G>A (n.*182G>A) c.3441+16247C>T (n.3441+16247C>T) c.*614G>A (n.*614G>A) c.1789G>A (p.Ala597Thr) c.276+16247C>T (n.276+16247C>T) c.*220+6297G>A (n.*220+6297G>A) c.913G>A (p.Ala305Thr) c.940G>A (p.Ala314Thr) c.1795G>A (p.Ala599Thr) c.1609G>A (p.Ala537Thr) c.1528G>A (p.Ala510Thr) c.1234G>A (p.Ala412Thr) c.1615G>A (p.Ala539Thr) | |
2 | g.48687928A= | CA1248600906 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1869T= (p.Tyr623=) c.*181T= (n.*181T=) c.3441+16248A= (n.3441+16248A=) c.*613T= (n.*613T=) c.1788T= (p.Tyr596=) c.276+16248A= (n.276+16248A=) c.*220+6296T= (n.*220+6296T=) c.912T= (p.Tyr304=) c.939T= (p.Tyr313=) c.1794T= (p.Tyr598=) c.1608T= (p.Tyr536=) c.1527T= (p.Tyr509=) c.1233T= (p.Tyr411=) c.1614T= (p.Tyr538=) | |
2 | g.48687928A>C | CA346744078 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1869T>G (p.Tyr623Ter) c.*181T>G (n.*181T>G) c.3441+16248A>C (n.3441+16248A>C) c.*613T>G (n.*613T>G) c.1788T>G (p.Tyr596Ter) c.276+16248A>C (n.276+16248A>C) c.*220+6296T>G (n.*220+6296T>G) c.912T>G (p.Tyr304Ter) c.939T>G (p.Tyr313Ter) c.1794T>G (p.Tyr598Ter) c.1608T>G (p.Tyr536Ter) c.1527T>G (p.Tyr509Ter) c.1233T>G (p.Tyr411Ter) c.1614T>G (p.Tyr538Ter) | ClinVar dbSNP |
2 | g.48687928A>G | CA1652974 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1869T>C (p.Tyr623=) c.*181T>C (n.*181T>C) c.3441+16248A>G (n.3441+16248A>G) c.*613T>C (n.*613T>C) c.1788T>C (p.Tyr596=) c.276+16248A>G (n.276+16248A>G) c.*220+6296T>C (n.*220+6296T>C) c.912T>C (p.Tyr304=) c.939T>C (p.Tyr313=) c.1794T>C (p.Tyr598=) c.1608T>C (p.Tyr536=) c.1527T>C (p.Tyr509=) c.1233T>C (p.Tyr411=) c.1614T>C (p.Tyr538=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48687928A>T | CA346744082 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1869T>A (p.Tyr623Ter) c.*181T>A (n.*181T>A) c.3441+16248A>T (n.3441+16248A>T) c.*613T>A (n.*613T>A) c.1788T>A (p.Tyr596Ter) c.276+16248A>T (n.276+16248A>T) c.*220+6296T>A (n.*220+6296T>A) c.912T>A (p.Tyr304Ter) c.939T>A (p.Tyr313Ter) c.1794T>A (p.Tyr598Ter) c.1608T>A (p.Tyr536Ter) c.1527T>A (p.Tyr509Ter) c.1233T>A (p.Tyr411Ter) c.1614T>A (p.Tyr538Ter) | dbSNP gnomAD v2 |
2 | g.48687929T>A | CA346744084 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1868A>T (p.Tyr623Phe) c.*180A>T (n.*180A>T) c.3441+16249T>A (n.3441+16249T>A) c.*612A>T (n.*612A>T) c.1787A>T (p.Tyr596Phe) c.276+16249T>A (n.276+16249T>A) c.*220+6295A>T (n.*220+6295A>T) c.911A>T (p.Tyr304Phe) c.938A>T (p.Tyr313Phe) c.1793A>T (p.Tyr598Phe) c.1607A>T (p.Tyr536Phe) c.1526A>T (p.Tyr509Phe) c.1232A>T (p.Tyr411Phe) c.1613A>T (p.Tyr538Phe) | |
2 | g.48687929T>C | CA346744086 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1868A>G (p.Tyr623Cys) c.*180A>G (n.*180A>G) c.3441+16249T>C (n.3441+16249T>C) c.*612A>G (n.*612A>G) c.1787A>G (p.Tyr596Cys) c.276+16249T>C (n.276+16249T>C) c.*220+6295A>G (n.*220+6295A>G) c.911A>G (p.Tyr304Cys) c.938A>G (p.Tyr313Cys) c.1793A>G (p.Tyr598Cys) c.1607A>G (p.Tyr536Cys) c.1526A>G (p.Tyr509Cys) c.1232A>G (p.Tyr411Cys) c.1613A>G (p.Tyr538Cys) | |
2 | g.48687929T>G | CA346744085 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1868A>C (p.Tyr623Ser) c.*180A>C (n.*180A>C) c.3441+16249T>G (n.3441+16249T>G) c.*612A>C (n.*612A>C) c.1787A>C (p.Tyr596Ser) c.276+16249T>G (n.276+16249T>G) c.*220+6295A>C (n.*220+6295A>C) c.911A>C (p.Tyr304Ser) c.938A>C (p.Tyr313Ser) c.1793A>C (p.Tyr598Ser) c.1607A>C (p.Tyr536Ser) c.1526A>C (p.Tyr509Ser) c.1232A>C (p.Tyr411Ser) c.1613A>C (p.Tyr538Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48687929T= | CA1248600907 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1868A= (p.Tyr623=) c.*180A= (n.*180A=) c.3441+16249T= (n.3441+16249T=) c.*612A= (n.*612A=) c.1787A= (p.Tyr596=) c.276+16249T= (n.276+16249T=) c.*220+6295A= (n.*220+6295A=) c.911A= (p.Tyr304=) c.938A= (p.Tyr313=) c.1793A= (p.Tyr598=) c.1607A= (p.Tyr536=) c.1526A= (p.Tyr509=) c.1232A= (p.Tyr411=) c.1613A= (p.Tyr538=) | |
2 | g.48687930A>C | CA346744087 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1867T>G (p.Tyr623Asp) c.*179T>G (n.*179T>G) c.3441+16250A>C (n.3441+16250A>C) c.*611T>G (n.*611T>G) c.1786T>G (p.Tyr596Asp) c.276+16250A>C (n.276+16250A>C) c.*220+6294T>G (n.*220+6294T>G) c.910T>G (p.Tyr304Asp) c.937T>G (p.Tyr313Asp) c.1792T>G (p.Tyr598Asp) c.1606T>G (p.Tyr536Asp) c.1525T>G (p.Tyr509Asp) c.1231T>G (p.Tyr411Asp) c.1612T>G (p.Tyr538Asp) | |
2 | g.48687930A>G | CA346744088 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1867T>C (p.Tyr623His) c.*179T>C (n.*179T>C) c.3441+16250A>G (n.3441+16250A>G) c.*611T>C (n.*611T>C) c.1786T>C (p.Tyr596His) c.276+16250A>G (n.276+16250A>G) c.*220+6294T>C (n.*220+6294T>C) c.910T>C (p.Tyr304His) c.937T>C (p.Tyr313His) c.1792T>C (p.Tyr598His) c.1606T>C (p.Tyr536His) c.1525T>C (p.Tyr509His) c.1231T>C (p.Tyr411His) c.1612T>C (p.Tyr538His) | |
2 | g.48687930A>T | CA346744089 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1867T>A (p.Tyr623Asn) c.*179T>A (n.*179T>A) c.3441+16250A>T (n.3441+16250A>T) c.*611T>A (n.*611T>A) c.1786T>A (p.Tyr596Asn) c.276+16250A>T (n.276+16250A>T) c.*220+6294T>A (n.*220+6294T>A) c.910T>A (p.Tyr304Asn) c.937T>A (p.Tyr313Asn) c.1792T>A (p.Tyr598Asn) c.1606T>A (p.Tyr536Asn) c.1525T>A (p.Tyr509Asn) c.1231T>A (p.Tyr411Asn) c.1612T>A (p.Tyr538Asn) | |
2 | g.48687931C>A | CA426125446 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1866G>T (p.Leu622=) c.*178G>T (n.*178G>T) c.3441+16251C>A (n.3441+16251C>A) c.*610G>T (n.*610G>T) c.1785G>T (p.Leu595=) c.276+16251C>A (n.276+16251C>A) c.*220+6293G>T (n.*220+6293G>T) c.909G>T (p.Leu303=) c.936G>T (p.Leu312=) c.1791G>T (p.Leu597=) c.1605G>T (p.Leu535=) c.1524G>T (p.Leu508=) c.1230G>T (p.Leu410=) c.1611G>T (p.Leu537=) | |
2 | g.48687931C= | CA1248600908 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1866G= (p.Leu622=) c.*178G= (n.*178G=) c.3441+16251C= (n.3441+16251C=) c.*610G= (n.*610G=) c.1785G= (p.Leu595=) c.276+16251C= (n.276+16251C=) c.*220+6293G= (n.*220+6293G=) c.909G= (p.Leu303=) c.936G= (p.Leu312=) c.1791G= (p.Leu597=) c.1605G= (p.Leu535=) c.1524G= (p.Leu508=) c.1230G= (p.Leu410=) c.1611G= (p.Leu537=) | |
2 | g.48687931C>G | CA426125445 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1866G>C (p.Leu622=) c.*178G>C (n.*178G>C) c.3441+16251C>G (n.3441+16251C>G) c.*610G>C (n.*610G>C) c.1785G>C (p.Leu595=) c.276+16251C>G (n.276+16251C>G) c.*220+6293G>C (n.*220+6293G>C) c.909G>C (p.Leu303=) c.936G>C (p.Leu312=) c.1791G>C (p.Leu597=) c.1605G>C (p.Leu535=) c.1524G>C (p.Leu508=) c.1230G>C (p.Leu410=) c.1611G>C (p.Leu537=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48687931C>T | CA426125443 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1866G>A (p.Leu622=) c.*178G>A (n.*178G>A) c.3441+16251C>T (n.3441+16251C>T) c.*610G>A (n.*610G>A) c.1785G>A (p.Leu595=) c.276+16251C>T (n.276+16251C>T) c.*220+6293G>A (n.*220+6293G>A) c.909G>A (p.Leu303=) c.936G>A (p.Leu312=) c.1791G>A (p.Leu597=) c.1605G>A (p.Leu535=) c.1524G>A (p.Leu508=) c.1230G>A (p.Leu410=) c.1611G>A (p.Leu537=) | |
2 | g.48687932A>C | CA346744091 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1865T>G (p.Leu622Arg) c.*177T>G (n.*177T>G) c.3441+16252A>C (n.3441+16252A>C) c.*609T>G (n.*609T>G) c.1784T>G (p.Leu595Arg) c.276+16252A>C (n.276+16252A>C) c.*220+6292T>G (n.*220+6292T>G) c.908T>G (p.Leu303Arg) c.935T>G (p.Leu312Arg) c.1790T>G (p.Leu597Arg) c.1604T>G (p.Leu535Arg) c.1523T>G (p.Leu508Arg) c.1229T>G (p.Leu410Arg) c.1610T>G (p.Leu537Arg) | |
2 | g.48687932A>G | CA346744092 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1865T>C (p.Leu622Pro) c.*177T>C (n.*177T>C) c.3441+16252A>G (n.3441+16252A>G) c.*609T>C (n.*609T>C) c.1784T>C (p.Leu595Pro) c.276+16252A>G (n.276+16252A>G) c.*220+6292T>C (n.*220+6292T>C) c.908T>C (p.Leu303Pro) c.935T>C (p.Leu312Pro) c.1790T>C (p.Leu597Pro) c.1604T>C (p.Leu535Pro) c.1523T>C (p.Leu508Pro) c.1229T>C (p.Leu410Pro) c.1610T>C (p.Leu537Pro) | |
2 | g.48687932A>T | CA346744093 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1865T>A (p.Leu622Gln) c.*177T>A (n.*177T>A) c.3441+16252A>T (n.3441+16252A>T) c.*609T>A (n.*609T>A) c.1784T>A (p.Leu595Gln) c.276+16252A>T (n.276+16252A>T) c.*220+6292T>A (n.*220+6292T>A) c.908T>A (p.Leu303Gln) c.935T>A (p.Leu312Gln) c.1790T>A (p.Leu597Gln) c.1604T>A (p.Leu535Gln) c.1523T>A (p.Leu508Gln) c.1229T>A (p.Leu410Gln) c.1610T>A (p.Leu537Gln) | |
2 | g.48687933G>A | CA426125455 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1864C>T (p.Leu622=) c.*176C>T (n.*176C>T) c.3441+16253G>A (n.3441+16253G>A) c.*608C>T (n.*608C>T) c.1783C>T (p.Leu595=) c.276+16253G>A (n.276+16253G>A) c.*220+6291C>T (n.*220+6291C>T) c.907C>T (p.Leu303=) c.934C>T (p.Leu312=) c.1789C>T (p.Leu597=) c.1603C>T (p.Leu535=) c.1522C>T (p.Leu508=) c.1228C>T (p.Leu410=) c.1609C>T (p.Leu537=) | |
2 | g.48687933G>C | CA346744094 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1864C>G (p.Leu622Val) c.*176C>G (n.*176C>G) c.3441+16253G>C (n.3441+16253G>C) c.*608C>G (n.*608C>G) c.1783C>G (p.Leu595Val) c.276+16253G>C (n.276+16253G>C) c.*220+6291C>G (n.*220+6291C>G) c.907C>G (p.Leu303Val) c.934C>G (p.Leu312Val) c.1789C>G (p.Leu597Val) c.1603C>G (p.Leu535Val) c.1522C>G (p.Leu508Val) c.1228C>G (p.Leu410Val) c.1609C>G (p.Leu537Val) | |
2 | g.48687933G= | CA1248600909 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1864C= (p.Leu622=) c.*176C= (n.*176C=) c.3441+16253G= (n.3441+16253G=) c.*608C= (n.*608C=) c.1783C= (p.Leu595=) c.276+16253G= (n.276+16253G=) c.*220+6291C= (n.*220+6291C=) c.907C= (p.Leu303=) c.934C= (p.Leu312=) c.1789C= (p.Leu597=) c.1603C= (p.Leu535=) c.1522C= (p.Leu508=) c.1228C= (p.Leu410=) c.1609C= (p.Leu537=) | |
2 | g.48687933G>T | CA346744096 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1864C>A (p.Leu622Met) c.*176C>A (n.*176C>A) c.3441+16253G>T (n.3441+16253G>T) c.*608C>A (n.*608C>A) c.1783C>A (p.Leu595Met) c.276+16253G>T (n.276+16253G>T) c.*220+6291C>A (n.*220+6291C>A) c.907C>A (p.Leu303Met) c.934C>A (p.Leu312Met) c.1789C>A (p.Leu597Met) c.1603C>A (p.Leu535Met) c.1522C>A (p.Leu508Met) c.1228C>A (p.Leu410Met) c.1609C>A (p.Leu537Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.48687934A>C | CA346744104 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1863T>G (p.Phe621Leu) c.*175T>G (n.*175T>G) c.3441+16254A>C (n.3441+16254A>C) c.*607T>G (n.*607T>G) c.1782T>G (p.Phe594Leu) c.276+16254A>C (n.276+16254A>C) c.*220+6290T>G (n.*220+6290T>G) c.906T>G (p.Phe302Leu) c.933T>G (p.Phe311Leu) c.1788T>G (p.Phe596Leu) c.1602T>G (p.Phe534Leu) c.1521T>G (p.Phe507Leu) c.1227T>G (p.Phe409Leu) c.1608T>G (p.Phe536Leu) | |
2 | g.48687934A>G | CA426125462 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1863T>C (p.Phe621=) c.*175T>C (n.*175T>C) c.3441+16254A>G (n.3441+16254A>G) c.*607T>C (n.*607T>C) c.1782T>C (p.Phe594=) c.276+16254A>G (n.276+16254A>G) c.*220+6290T>C (n.*220+6290T>C) c.906T>C (p.Phe302=) c.933T>C (p.Phe311=) c.1788T>C (p.Phe596=) c.1602T>C (p.Phe534=) c.1521T>C (p.Phe507=) c.1227T>C (p.Phe409=) c.1608T>C (p.Phe536=) | |
2 | g.48687934A>T | CA346744108 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1863T>A (p.Phe621Leu) c.*175T>A (n.*175T>A) c.3441+16254A>T (n.3441+16254A>T) c.*607T>A (n.*607T>A) c.1782T>A (p.Phe594Leu) c.276+16254A>T (n.276+16254A>T) c.*220+6290T>A (n.*220+6290T>A) c.906T>A (p.Phe302Leu) c.933T>A (p.Phe311Leu) c.1788T>A (p.Phe596Leu) c.1602T>A (p.Phe534Leu) c.1521T>A (p.Phe507Leu) c.1227T>A (p.Phe409Leu) c.1608T>A (p.Phe536Leu) | |
2 | g.48687935A= | CA1248600910 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1862T= (p.Phe621=) c.*174T= (n.*174T=) c.3441+16255A= (n.3441+16255A=) c.*606T= (n.*606T=) c.1781T= (p.Phe594=) c.276+16255A= (n.276+16255A=) c.*220+6289T= (n.*220+6289T=) c.905T= (p.Phe302=) c.932T= (p.Phe311=) c.1787T= (p.Phe596=) c.1601T= (p.Phe534=) c.1520T= (p.Phe507=) c.1226T= (p.Phe409=) c.1607T= (p.Phe536=) | |
2 | g.48687935A>C | CA346744110 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1862T>G (p.Phe621Cys) c.*174T>G (n.*174T>G) c.3441+16255A>C (n.3441+16255A>C) c.*606T>G (n.*606T>G) c.1781T>G (p.Phe594Cys) c.276+16255A>C (n.276+16255A>C) c.*220+6289T>G (n.*220+6289T>G) c.905T>G (p.Phe302Cys) c.932T>G (p.Phe311Cys) c.1787T>G (p.Phe596Cys) c.1601T>G (p.Phe534Cys) c.1520T>G (p.Phe507Cys) c.1226T>G (p.Phe409Cys) c.1607T>G (p.Phe536Cys) | |
2 | g.48687935A>G | CA46752647 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1862T>C (p.Phe621Ser) c.*174T>C (n.*174T>C) c.3441+16255A>G (n.3441+16255A>G) c.*606T>C (n.*606T>C) c.1781T>C (p.Phe594Ser) c.276+16255A>G (n.276+16255A>G) c.*220+6289T>C (n.*220+6289T>C) c.905T>C (p.Phe302Ser) c.932T>C (p.Phe311Ser) c.1787T>C (p.Phe596Ser) c.1601T>C (p.Phe534Ser) c.1520T>C (p.Phe507Ser) c.1226T>C (p.Phe409Ser) c.1607T>C (p.Phe536Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48687935A>T | CA346744119 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1862T>A (p.Phe621Tyr) c.*174T>A (n.*174T>A) c.3441+16255A>T (n.3441+16255A>T) c.*606T>A (n.*606T>A) c.1781T>A (p.Phe594Tyr) c.276+16255A>T (n.276+16255A>T) c.*220+6289T>A (n.*220+6289T>A) c.905T>A (p.Phe302Tyr) c.932T>A (p.Phe311Tyr) c.1787T>A (p.Phe596Tyr) c.1601T>A (p.Phe534Tyr) c.1520T>A (p.Phe507Tyr) c.1226T>A (p.Phe409Tyr) c.1607T>A (p.Phe536Tyr) | |
2 | g.48687936A>C | CA346744139 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1861T>G (p.Phe621Val) c.*173T>G (n.*173T>G) c.3441+16256A>C (n.3441+16256A>C) c.*605T>G (n.*605T>G) c.1780T>G (p.Phe594Val) c.276+16256A>C (n.276+16256A>C) c.*220+6288T>G (n.*220+6288T>G) c.904T>G (p.Phe302Val) c.931T>G (p.Phe311Val) c.1786T>G (p.Phe596Val) c.1600T>G (p.Phe534Val) c.1519T>G (p.Phe507Val) c.1225T>G (p.Phe409Val) c.1606T>G (p.Phe536Val) | |
2 | g.48687936A>G | CA346744128 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1861T>C (p.Phe621Leu) c.*173T>C (n.*173T>C) c.3441+16256A>G (n.3441+16256A>G) c.*605T>C (n.*605T>C) c.1780T>C (p.Phe594Leu) c.276+16256A>G (n.276+16256A>G) c.*220+6288T>C (n.*220+6288T>C) c.904T>C (p.Phe302Leu) c.931T>C (p.Phe311Leu) c.1786T>C (p.Phe596Leu) c.1600T>C (p.Phe534Leu) c.1519T>C (p.Phe507Leu) c.1225T>C (p.Phe409Leu) c.1606T>C (p.Phe536Leu) | |
2 | g.48687936A>T | CA346744136 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1861T>A (p.Phe621Ile) c.*173T>A (n.*173T>A) c.3441+16256A>T (n.3441+16256A>T) c.*605T>A (n.*605T>A) c.1780T>A (p.Phe594Ile) c.276+16256A>T (n.276+16256A>T) c.*220+6288T>A (n.*220+6288T>A) c.904T>A (p.Phe302Ile) c.931T>A (p.Phe311Ile) c.1786T>A (p.Phe596Ile) c.1600T>A (p.Phe534Ile) c.1519T>A (p.Phe507Ile) c.1225T>A (p.Phe409Ile) c.1606T>A (p.Phe536Ile) | |
2 | g.48687937T>A | CA426125471 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1860A>T (p.Pro620=) c.*172A>T (n.*172A>T) c.3441+16257T>A (n.3441+16257T>A) c.*604A>T (n.*604A>T) c.1779A>T (p.Pro593=) c.276+16257T>A (n.276+16257T>A) c.*220+6287A>T (n.*220+6287A>T) c.903A>T (p.Pro301=) c.930A>T (p.Pro310=) c.1785A>T (p.Pro595=) c.1599A>T (p.Pro533=) c.1518A>T (p.Pro506=) c.1224A>T (p.Pro408=) c.1605A>T (p.Pro535=) | gnomAD v4 |
2 | g.48687937T>C | CA426125474 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1860A>G (p.Pro620=) c.*172A>G (n.*172A>G) c.3441+16257T>C (n.3441+16257T>C) c.*604A>G (n.*604A>G) c.1779A>G (p.Pro593=) c.276+16257T>C (n.276+16257T>C) c.*220+6287A>G (n.*220+6287A>G) c.903A>G (p.Pro301=) c.930A>G (p.Pro310=) c.1785A>G (p.Pro595=) c.1599A>G (p.Pro533=) c.1518A>G (p.Pro506=) c.1224A>G (p.Pro408=) c.1605A>G (p.Pro535=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48687937T>G | CA426125475 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1860A>C (p.Pro620=) c.*172A>C (n.*172A>C) c.3441+16257T>G (n.3441+16257T>G) c.*604A>C (n.*604A>C) c.1779A>C (p.Pro593=) c.276+16257T>G (n.276+16257T>G) c.*220+6287A>C (n.*220+6287A>C) c.903A>C (p.Pro301=) c.930A>C (p.Pro310=) c.1785A>C (p.Pro595=) c.1599A>C (p.Pro533=) c.1518A>C (p.Pro506=) c.1224A>C (p.Pro408=) c.1605A>C (p.Pro535=) | |
2 | g.48687937T= | CA1248600911 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1860A= (p.Pro620=) c.*172A= (n.*172A=) c.3441+16257T= (n.3441+16257T=) c.*604A= (n.*604A=) c.1779A= (p.Pro593=) c.276+16257T= (n.276+16257T=) c.*220+6287A= (n.*220+6287A=) c.903A= (p.Pro301=) c.930A= (p.Pro310=) c.1785A= (p.Pro595=) c.1599A= (p.Pro533=) c.1518A= (p.Pro506=) c.1224A= (p.Pro408=) c.1605A= (p.Pro535=) | |
2 | g.48687938G>A | CA346744144 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1859C>T (p.Pro620Leu) c.*171C>T (n.*171C>T) c.3441+16258G>A (n.3441+16258G>A) c.*603C>T (n.*603C>T) c.1778C>T (p.Pro593Leu) c.276+16258G>A (n.276+16258G>A) c.*220+6286C>T (n.*220+6286C>T) c.902C>T (p.Pro301Leu) c.929C>T (p.Pro310Leu) c.1784C>T (p.Pro595Leu) c.1598C>T (p.Pro533Leu) c.1517C>T (p.Pro506Leu) c.1223C>T (p.Pro408Leu) c.1604C>T (p.Pro535Leu) | gnomAD v4 |
2 | g.48687938G>C | CA346744145 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1859C>G (p.Pro620Arg) c.*171C>G (n.*171C>G) c.3441+16258G>C (n.3441+16258G>C) c.*603C>G (n.*603C>G) c.1778C>G (p.Pro593Arg) c.276+16258G>C (n.276+16258G>C) c.*220+6286C>G (n.*220+6286C>G) c.902C>G (p.Pro301Arg) c.929C>G (p.Pro310Arg) c.1784C>G (p.Pro595Arg) c.1598C>G (p.Pro533Arg) c.1517C>G (p.Pro506Arg) c.1223C>G (p.Pro408Arg) c.1604C>G (p.Pro535Arg) | |
2 | g.48687938G>T | CA346744146 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1859C>A (p.Pro620Gln) c.*171C>A (n.*171C>A) c.3441+16258G>T (n.3441+16258G>T) c.*603C>A (n.*603C>A) c.1778C>A (p.Pro593Gln) c.276+16258G>T (n.276+16258G>T) c.*220+6286C>A (n.*220+6286C>A) c.902C>A (p.Pro301Gln) c.929C>A (p.Pro310Gln) c.1784C>A (p.Pro595Gln) c.1598C>A (p.Pro533Gln) c.1517C>A (p.Pro506Gln) c.1223C>A (p.Pro408Gln) c.1604C>A (p.Pro535Gln) | |
2 | g.48687939G>A | CA346744147 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1858C>T (p.Pro620Ser) c.*170C>T (n.*170C>T) c.3441+16259G>A (n.3441+16259G>A) c.*602C>T (n.*602C>T) c.1777C>T (p.Pro593Ser) c.276+16259G>A (n.276+16259G>A) c.*220+6285C>T (n.*220+6285C>T) c.901C>T (p.Pro301Ser) c.928C>T (p.Pro310Ser) c.1783C>T (p.Pro595Ser) c.1597C>T (p.Pro533Ser) c.1516C>T (p.Pro506Ser) c.1222C>T (p.Pro408Ser) c.1603C>T (p.Pro535Ser) | COSMIC |
2 | g.48687939G>C | CA1652975 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1858C>G (p.Pro620Ala) c.*170C>G (n.*170C>G) c.3441+16259G>C (n.3441+16259G>C) c.*602C>G (n.*602C>G) c.1777C>G (p.Pro593Ala) c.276+16259G>C (n.276+16259G>C) c.*220+6285C>G (n.*220+6285C>G) c.901C>G (p.Pro301Ala) c.928C>G (p.Pro310Ala) c.1783C>G (p.Pro595Ala) c.1597C>G (p.Pro533Ala) c.1516C>G (p.Pro506Ala) c.1222C>G (p.Pro408Ala) c.1603C>G (p.Pro535Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48687939G= | CA1248600912 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1858C= (p.Pro620=) c.*170C= (n.*170C=) c.3441+16259G= (n.3441+16259G=) c.*602C= (n.*602C=) c.1777C= (p.Pro593=) c.276+16259G= (n.276+16259G=) c.*220+6285C= (n.*220+6285C=) c.901C= (p.Pro301=) c.928C= (p.Pro310=) c.1783C= (p.Pro595=) c.1597C= (p.Pro533=) c.1516C= (p.Pro506=) c.1222C= (p.Pro408=) c.1603C= (p.Pro535=) | |
2 | g.48687939G>T | CA346744155 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1858C>A (p.Pro620Thr) c.*170C>A (n.*170C>A) c.3441+16259G>T (n.3441+16259G>T) c.*602C>A (n.*602C>A) c.1777C>A (p.Pro593Thr) c.276+16259G>T (n.276+16259G>T) c.*220+6285C>A (n.*220+6285C>A) c.901C>A (p.Pro301Thr) c.928C>A (p.Pro310Thr) c.1783C>A (p.Pro595Thr) c.1597C>A (p.Pro533Thr) c.1516C>A (p.Pro506Thr) c.1222C>A (p.Pro408Thr) c.1603C>A (p.Pro535Thr) | |
2 | g.48687940A>C | CA346744158 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1857T>G (p.Asn619Lys) c.*169T>G (n.*169T>G) c.3441+16260A>C (n.3441+16260A>C) c.*601T>G (n.*601T>G) c.1776T>G (p.Asn592Lys) c.276+16260A>C (n.276+16260A>C) c.*220+6284T>G (n.*220+6284T>G) c.900T>G (p.Asn300Lys) c.927T>G (p.Asn309Lys) c.1782T>G (p.Asn594Lys) c.1596T>G (p.Asn532Lys) c.1515T>G (p.Asn505Lys) c.1221T>G (p.Asn407Lys) c.1602T>G (p.Asn534Lys) | |
2 | g.48687940A>G | CA426125488 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1857T>C (p.Asn619=) c.*169T>C (n.*169T>C) c.3441+16260A>G (n.3441+16260A>G) c.*601T>C (n.*601T>C) c.1776T>C (p.Asn592=) c.276+16260A>G (n.276+16260A>G) c.*220+6284T>C (n.*220+6284T>C) c.900T>C (p.Asn300=) c.927T>C (p.Asn309=) c.1782T>C (p.Asn594=) c.1596T>C (p.Asn532=) c.1515T>C (p.Asn505=) c.1221T>C (p.Asn407=) c.1602T>C (p.Asn534=) | dbSNP gnomAD v4 |
2 | g.48687940A>T | CA346744162 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1857T>A (p.Asn619Lys) c.*169T>A (n.*169T>A) c.3441+16260A>T (n.3441+16260A>T) c.*601T>A (n.*601T>A) c.1776T>A (p.Asn592Lys) c.276+16260A>T (n.276+16260A>T) c.*220+6284T>A (n.*220+6284T>A) c.900T>A (p.Asn300Lys) c.927T>A (p.Asn309Lys) c.1782T>A (p.Asn594Lys) c.1596T>A (p.Asn532Lys) c.1515T>A (p.Asn505Lys) c.1221T>A (p.Asn407Lys) c.1602T>A (p.Asn534Lys) | gnomAD v4 |
2 | g.48687941T>A | CA346744163 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1856A>T (p.Asn619Ile) c.*168A>T (n.*168A>T) c.3441+16261T>A (n.3441+16261T>A) c.*600A>T (n.*600A>T) c.1775A>T (p.Asn592Ile) c.276+16261T>A (n.276+16261T>A) c.*220+6283A>T (n.*220+6283A>T) c.899A>T (p.Asn300Ile) c.926A>T (p.Asn309Ile) c.1781A>T (p.Asn594Ile) c.1595A>T (p.Asn532Ile) c.1514A>T (p.Asn505Ile) c.1220A>T (p.Asn407Ile) c.1601A>T (p.Asn534Ile) | |
2 | g.48687941T>C | CA346744164 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1856A>G (p.Asn619Ser) c.*168A>G (n.*168A>G) c.3441+16261T>C (n.3441+16261T>C) c.*600A>G (n.*600A>G) c.1775A>G (p.Asn592Ser) c.276+16261T>C (n.276+16261T>C) c.*220+6283A>G (n.*220+6283A>G) c.899A>G (p.Asn300Ser) c.926A>G (p.Asn309Ser) c.1781A>G (p.Asn594Ser) c.1595A>G (p.Asn532Ser) c.1514A>G (p.Asn505Ser) c.1220A>G (p.Asn407Ser) c.1601A>G (p.Asn534Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48687941T>G | CA346744167 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1856A>C (p.Asn619Thr) c.*168A>C (n.*168A>C) c.3441+16261T>G (n.3441+16261T>G) c.*600A>C (n.*600A>C) c.1775A>C (p.Asn592Thr) c.276+16261T>G (n.276+16261T>G) c.*220+6283A>C (n.*220+6283A>C) c.899A>C (p.Asn300Thr) c.926A>C (p.Asn309Thr) c.1781A>C (p.Asn594Thr) c.1595A>C (p.Asn532Thr) c.1514A>C (p.Asn505Thr) c.1220A>C (p.Asn407Thr) c.1601A>C (p.Asn534Thr) | |
2 | g.48687941T= | CA1248600913 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1856A= (p.Asn619=) c.*168A= (n.*168A=) c.3441+16261T= (n.3441+16261T=) c.*600A= (n.*600A=) c.1775A= (p.Asn592=) c.276+16261T= (n.276+16261T=) c.*220+6283A= (n.*220+6283A=) c.899A= (p.Asn300=) c.926A= (p.Asn309=) c.1781A= (p.Asn594=) c.1595A= (p.Asn532=) c.1514A= (p.Asn505=) c.1220A= (p.Asn407=) c.1601A= (p.Asn534=) | |
2 | g.48687942T>A | CA346744169 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1855A>T (p.Asn619Tyr) c.*167A>T (n.*167A>T) c.3441+16262T>A (n.3441+16262T>A) c.*599A>T (n.*599A>T) c.1774A>T (p.Asn592Tyr) c.276+16262T>A (n.276+16262T>A) c.*220+6282A>T (n.*220+6282A>T) c.898A>T (p.Asn300Tyr) c.925A>T (p.Asn309Tyr) c.1780A>T (p.Asn594Tyr) c.1594A>T (p.Asn532Tyr) c.1513A>T (p.Asn505Tyr) c.1219A>T (p.Asn407Tyr) c.1600A>T (p.Asn534Tyr) | |
2 | g.48687942T>C | CA346744171 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1855A>G (p.Asn619Asp) c.*167A>G (n.*167A>G) c.3441+16262T>C (n.3441+16262T>C) c.*599A>G (n.*599A>G) c.1774A>G (p.Asn592Asp) c.276+16262T>C (n.276+16262T>C) c.*220+6282A>G (n.*220+6282A>G) c.898A>G (p.Asn300Asp) c.925A>G (p.Asn309Asp) c.1780A>G (p.Asn594Asp) c.1594A>G (p.Asn532Asp) c.1513A>G (p.Asn505Asp) c.1219A>G (p.Asn407Asp) c.1600A>G (p.Asn534Asp) | |
2 | g.48687942T>G | CA346744170 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1855A>C (p.Asn619His) c.*167A>C (n.*167A>C) c.3441+16262T>G (n.3441+16262T>G) c.*599A>C (n.*599A>C) c.1774A>C (p.Asn592His) c.276+16262T>G (n.276+16262T>G) c.*220+6282A>C (n.*220+6282A>C) c.898A>C (p.Asn300His) c.925A>C (p.Asn309His) c.1780A>C (p.Asn594His) c.1594A>C (p.Asn532His) c.1513A>C (p.Asn505His) c.1219A>C (p.Asn407His) c.1600A>C (p.Asn534His) | |
2 | g.48687943G>A | CA426125498 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1854C>T (p.Ala618=) c.*166C>T (n.*166C>T) c.3441+16263G>A (n.3441+16263G>A) c.*598C>T (n.*598C>T) c.1773C>T (p.Ala591=) c.276+16263G>A (n.276+16263G>A) c.*220+6281C>T (n.*220+6281C>T) c.897C>T (p.Ala299=) c.924C>T (p.Ala308=) c.1779C>T (p.Ala593=) c.1593C>T (p.Ala531=) c.1512C>T (p.Ala504=) c.1218C>T (p.Ala406=) c.1599C>T (p.Ala533=) | |
2 | g.48687943G>C | CA426125500 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1854C>G (p.Ala618=) c.*166C>G (n.*166C>G) c.3441+16263G>C (n.3441+16263G>C) c.*598C>G (n.*598C>G) c.1773C>G (p.Ala591=) c.276+16263G>C (n.276+16263G>C) c.*220+6281C>G (n.*220+6281C>G) c.897C>G (p.Ala299=) c.924C>G (p.Ala308=) c.1779C>G (p.Ala593=) c.1593C>G (p.Ala531=) c.1512C>G (p.Ala504=) c.1218C>G (p.Ala406=) c.1599C>G (p.Ala533=) | |
2 | g.48687943G>T | CA426125502 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1854C>A (p.Ala618=) c.*166C>A (n.*166C>A) c.3441+16263G>T (n.3441+16263G>T) c.*598C>A (n.*598C>A) c.1773C>A (p.Ala591=) c.276+16263G>T (n.276+16263G>T) c.*220+6281C>A (n.*220+6281C>A) c.897C>A (p.Ala299=) c.924C>A (p.Ala308=) c.1779C>A (p.Ala593=) c.1593C>A (p.Ala531=) c.1512C>A (p.Ala504=) c.1218C>A (p.Ala406=) c.1599C>A (p.Ala533=) | gnomAD v4 |
2 | g.48687944G>A | CA346744172 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1853C>T (p.Ala618Val) c.*165C>T (n.*165C>T) c.3441+16264G>A (n.3441+16264G>A) c.*597C>T (n.*597C>T) c.1772C>T (p.Ala591Val) c.276+16264G>A (n.276+16264G>A) c.*220+6280C>T (n.*220+6280C>T) c.896C>T (p.Ala299Val) c.923C>T (p.Ala308Val) c.1778C>T (p.Ala593Val) c.1592C>T (p.Ala531Val) c.1511C>T (p.Ala504Val) c.1217C>T (p.Ala406Val) c.1598C>T (p.Ala533Val) | gnomAD v4 |
2 | g.48687944G>C | CA346744177 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1853C>G (p.Ala618Gly) c.*165C>G (n.*165C>G) c.3441+16264G>C (n.3441+16264G>C) c.*597C>G (n.*597C>G) c.1772C>G (p.Ala591Gly) c.276+16264G>C (n.276+16264G>C) c.*220+6280C>G (n.*220+6280C>G) c.896C>G (p.Ala299Gly) c.923C>G (p.Ala308Gly) c.1778C>G (p.Ala593Gly) c.1592C>G (p.Ala531Gly) c.1511C>G (p.Ala504Gly) c.1217C>G (p.Ala406Gly) c.1598C>G (p.Ala533Gly) | |
2 | g.48687944G>T | CA346744176 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1853C>A (p.Ala618Asp) c.*165C>A (n.*165C>A) c.3441+16264G>T (n.3441+16264G>T) c.*597C>A (n.*597C>A) c.1772C>A (p.Ala591Asp) c.276+16264G>T (n.276+16264G>T) c.*220+6280C>A (n.*220+6280C>A) c.896C>A (p.Ala299Asp) c.923C>A (p.Ala308Asp) c.1778C>A (p.Ala593Asp) c.1592C>A (p.Ala531Asp) c.1511C>A (p.Ala504Asp) c.1217C>A (p.Ala406Asp) c.1598C>A (p.Ala533Asp) | |
2 | g.48687945C>A | CA346744180 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1852G>T (p.Ala618Ser) c.*164G>T (n.*164G>T) c.3441+16265C>A (n.3441+16265C>A) c.*596G>T (n.*596G>T) c.1771G>T (p.Ala591Ser) c.276+16265C>A (n.276+16265C>A) c.*220+6279G>T (n.*220+6279G>T) c.895G>T (p.Ala299Ser) c.922G>T (p.Ala308Ser) c.1777G>T (p.Ala593Ser) c.1591G>T (p.Ala531Ser) c.1510G>T (p.Ala504Ser) c.1216G>T (p.Ala406Ser) c.1597G>T (p.Ala533Ser) | dbSNP |
2 | g.48687945C= | CA1248600914 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1852G= (p.Ala618=) c.*164G= (n.*164G=) c.3441+16265C= (n.3441+16265C=) c.*596G= (n.*596G=) c.1771G= (p.Ala591=) c.276+16265C= (n.276+16265C=) c.*220+6279G= (n.*220+6279G=) c.895G= (p.Ala299=) c.922G= (p.Ala308=) c.1777G= (p.Ala593=) c.1591G= (p.Ala531=) c.1510G= (p.Ala504=) c.1216G= (p.Ala406=) c.1597G= (p.Ala533=) | |
2 | g.48687945C>G | CA346744181 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1852G>C (p.Ala618Pro) c.*164G>C (n.*164G>C) c.3441+16265C>G (n.3441+16265C>G) c.*596G>C (n.*596G>C) c.1771G>C (p.Ala591Pro) c.276+16265C>G (n.276+16265C>G) c.*220+6279G>C (n.*220+6279G>C) c.895G>C (p.Ala299Pro) c.922G>C (p.Ala308Pro) c.1777G>C (p.Ala593Pro) c.1591G>C (p.Ala531Pro) c.1510G>C (p.Ala504Pro) c.1216G>C (p.Ala406Pro) c.1597G>C (p.Ala533Pro) | |
2 | g.48687945C>T | CA1652976 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1852G>A (p.Ala618Thr) c.*164G>A (n.*164G>A) c.3441+16265C>T (n.3441+16265C>T) c.*596G>A (n.*596G>A) c.1771G>A (p.Ala591Thr) c.276+16265C>T (n.276+16265C>T) c.*220+6279G>A (n.*220+6279G>A) c.895G>A (p.Ala299Thr) c.922G>A (p.Ala308Thr) c.1777G>A (p.Ala593Thr) c.1591G>A (p.Ala531Thr) c.1510G>A (p.Ala504Thr) c.1216G>A (p.Ala406Thr) c.1597G>A (p.Ala533Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.48687946A>C | CA346744184 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1851T>G (p.Cys617Trp) c.*163T>G (n.*163T>G) c.3441+16266A>C (n.3441+16266A>C) c.*595T>G (n.*595T>G) c.1770T>G (p.Cys590Trp) c.276+16266A>C (n.276+16266A>C) c.*220+6278T>G (n.*220+6278T>G) c.894T>G (p.Cys298Trp) c.921T>G (p.Cys307Trp) c.1776T>G (p.Cys592Trp) c.1590T>G (p.Cys530Trp) c.1509T>G (p.Cys503Trp) c.1215T>G (p.Cys405Trp) c.1596T>G (p.Cys532Trp) | |
2 | g.48687946A>G | CA426125511 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1851T>C (p.Cys617=) c.*163T>C (n.*163T>C) c.3441+16266A>G (n.3441+16266A>G) c.*595T>C (n.*595T>C) c.1770T>C (p.Cys590=) c.276+16266A>G (n.276+16266A>G) c.*220+6278T>C (n.*220+6278T>C) c.894T>C (p.Cys298=) c.921T>C (p.Cys307=) c.1776T>C (p.Cys592=) c.1590T>C (p.Cys530=) c.1509T>C (p.Cys503=) c.1215T>C (p.Cys405=) c.1596T>C (p.Cys532=) | |
2 | g.48687946A>T | CA346744186 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1851T>A (p.Cys617Ter) c.*163T>A (n.*163T>A) c.3441+16266A>T (n.3441+16266A>T) c.*595T>A (n.*595T>A) c.1770T>A (p.Cys590Ter) c.276+16266A>T (n.276+16266A>T) c.*220+6278T>A (n.*220+6278T>A) c.894T>A (p.Cys298Ter) c.921T>A (p.Cys307Ter) c.1776T>A (p.Cys592Ter) c.1590T>A (p.Cys530Ter) c.1509T>A (p.Cys503Ter) c.1215T>A (p.Cys405Ter) c.1596T>A (p.Cys532Ter) | |
2 | g.48687947del | CA2586969300 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1850del (p.Cys617LeufsTer22) c.*162del (n.*162del) c.3441+16267del (n.3441+16267del) c.*594del (n.*594del) c.1769del (p.Cys590LeufsTer22) c.276+16267del (n.276+16267del) c.*220+6277del (n.*220+6277del) c.893del (p.Cys298LeufsTer22) c.920del (p.Cys307LeufsTer22) c.1775del (p.Cys592LeufsTer22) c.1589del (p.Cys530LeufsTer22) c.1508del (p.Cys503LeufsTer22) c.1214del (p.Cys405LeufsTer22) c.1595del (p.Cys532LeufsTer22) | |
2 | g.48687947C>A | CA346744189 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1850G>T (p.Cys617Phe) c.*162G>T (n.*162G>T) c.3441+16267C>A (n.3441+16267C>A) c.*594G>T (n.*594G>T) c.1769G>T (p.Cys590Phe) c.276+16267C>A (n.276+16267C>A) c.*220+6277G>T (n.*220+6277G>T) c.893G>T (p.Cys298Phe) c.920G>T (p.Cys307Phe) c.1775G>T (p.Cys592Phe) c.1589G>T (p.Cys530Phe) c.1508G>T (p.Cys503Phe) c.1214G>T (p.Cys405Phe) c.1595G>T (p.Cys532Phe) | |
2 | g.48687947C>G | CA346744191 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1850G>C (p.Cys617Ser) c.*162G>C (n.*162G>C) c.3441+16267C>G (n.3441+16267C>G) c.*594G>C (n.*594G>C) c.1769G>C (p.Cys590Ser) c.276+16267C>G (n.276+16267C>G) c.*220+6277G>C (n.*220+6277G>C) c.893G>C (p.Cys298Ser) c.920G>C (p.Cys307Ser) c.1775G>C (p.Cys592Ser) c.1589G>C (p.Cys530Ser) c.1508G>C (p.Cys503Ser) c.1214G>C (p.Cys405Ser) c.1595G>C (p.Cys532Ser) | gnomAD v4 |
2 | g.48687947C>T | CA346744192 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1850G>A (p.Cys617Tyr) c.*162G>A (n.*162G>A) c.3441+16267C>T (n.3441+16267C>T) c.*594G>A (n.*594G>A) c.1769G>A (p.Cys590Tyr) c.276+16267C>T (n.276+16267C>T) c.*220+6277G>A (n.*220+6277G>A) c.893G>A (p.Cys298Tyr) c.920G>A (p.Cys307Tyr) c.1775G>A (p.Cys592Tyr) c.1589G>A (p.Cys530Tyr) c.1508G>A (p.Cys503Tyr) c.1214G>A (p.Cys405Tyr) c.1595G>A (p.Cys532Tyr) | |
2 | g.48687948A>C | CA346744195 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1849T>G (p.Cys617Gly) c.*161T>G (n.*161T>G) c.3441+16268A>C (n.3441+16268A>C) c.*593T>G (n.*593T>G) c.1768T>G (p.Cys590Gly) c.276+16268A>C (n.276+16268A>C) c.*220+6276T>G (n.*220+6276T>G) c.892T>G (p.Cys298Gly) c.919T>G (p.Cys307Gly) c.1774T>G (p.Cys592Gly) c.1588T>G (p.Cys530Gly) c.1507T>G (p.Cys503Gly) c.1213T>G (p.Cys405Gly) c.1594T>G (p.Cys532Gly) | |
2 | g.48687948A>G | CA346744196 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1849T>C (p.Cys617Arg) c.*161T>C (n.*161T>C) c.3441+16268A>G (n.3441+16268A>G) c.*593T>C (n.*593T>C) c.1768T>C (p.Cys590Arg) c.276+16268A>G (n.276+16268A>G) c.*220+6276T>C (n.*220+6276T>C) c.892T>C (p.Cys298Arg) c.919T>C (p.Cys307Arg) c.1774T>C (p.Cys592Arg) c.1588T>C (p.Cys530Arg) c.1507T>C (p.Cys503Arg) c.1213T>C (p.Cys405Arg) c.1594T>C (p.Cys532Arg) | |
2 | g.48687948A>T | CA346744197 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1849T>A (p.Cys617Ser) c.*161T>A (n.*161T>A) c.3441+16268A>T (n.3441+16268A>T) c.*593T>A (n.*593T>A) c.1768T>A (p.Cys590Ser) c.276+16268A>T (n.276+16268A>T) c.*220+6276T>A (n.*220+6276T>A) c.892T>A (p.Cys298Ser) c.919T>A (p.Cys307Ser) c.1774T>A (p.Cys592Ser) c.1588T>A (p.Cys530Ser) c.1507T>A (p.Cys503Ser) c.1213T>A (p.Cys405Ser) c.1594T>A (p.Cys532Ser) | |
2 | g.48687949A>C | CA426125524 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1848T>G (p.Ser616=) c.*160T>G (n.*160T>G) c.3441+16269A>C (n.3441+16269A>C) c.*592T>G (n.*592T>G) c.1767T>G (p.Ser589=) c.276+16269A>C (n.276+16269A>C) c.*220+6275T>G (n.*220+6275T>G) c.891T>G (p.Ser297=) c.918T>G (p.Ser306=) c.1773T>G (p.Ser591=) c.1587T>G (p.Ser529=) c.1506T>G (p.Ser502=) c.1212T>G (p.Ser404=) c.1593T>G (p.Ser531=) | |
2 | g.48687949A>G | CA426125518 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1848T>C (p.Ser616=) c.*160T>C (n.*160T>C) c.3441+16269A>G (n.3441+16269A>G) c.*592T>C (n.*592T>C) c.1767T>C (p.Ser589=) c.276+16269A>G (n.276+16269A>G) c.*220+6275T>C (n.*220+6275T>C) c.891T>C (p.Ser297=) c.918T>C (p.Ser306=) c.1773T>C (p.Ser591=) c.1587T>C (p.Ser529=) c.1506T>C (p.Ser502=) c.1212T>C (p.Ser404=) c.1593T>C (p.Ser531=) | gnomAD v4 |
2 | g.48687949A>T | CA426125517 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1848T>A (p.Ser616=) c.*160T>A (n.*160T>A) c.3441+16269A>T (n.3441+16269A>T) c.*592T>A (n.*592T>A) c.1767T>A (p.Ser589=) c.276+16269A>T (n.276+16269A>T) c.*220+6275T>A (n.*220+6275T>A) c.891T>A (p.Ser297=) c.918T>A (p.Ser306=) c.1773T>A (p.Ser591=) c.1587T>A (p.Ser529=) c.1506T>A (p.Ser502=) c.1212T>A (p.Ser404=) c.1593T>A (p.Ser531=) | |
2 | g.48687950G>A | CA346744203 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1847C>T (p.Ser616Phe) c.*159C>T (n.*159C>T) c.3441+16270G>A (n.3441+16270G>A) c.*591C>T (n.*591C>T) c.1766C>T (p.Ser589Phe) c.276+16270G>A (n.276+16270G>A) c.*220+6274C>T (n.*220+6274C>T) c.890C>T (p.Ser297Phe) c.917C>T (p.Ser306Phe) c.1772C>T (p.Ser591Phe) c.1586C>T (p.Ser529Phe) c.1505C>T (p.Ser502Phe) c.1211C>T (p.Ser404Phe) c.1592C>T (p.Ser531Phe) | COSMIC |
2 | g.48687950G>C | CA346744199 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1847C>G (p.Ser616Cys) c.*159C>G (n.*159C>G) c.3441+16270G>C (n.3441+16270G>C) c.*591C>G (n.*591C>G) c.1766C>G (p.Ser589Cys) c.276+16270G>C (n.276+16270G>C) c.*220+6274C>G (n.*220+6274C>G) c.890C>G (p.Ser297Cys) c.917C>G (p.Ser306Cys) c.1772C>G (p.Ser591Cys) c.1586C>G (p.Ser529Cys) c.1505C>G (p.Ser502Cys) c.1211C>G (p.Ser404Cys) c.1592C>G (p.Ser531Cys) | |
2 | g.48687950G= | CA1248600915 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1847C= (p.Ser616=) c.*159C= (n.*159C=) c.3441+16270G= (n.3441+16270G=) c.*591C= (n.*591C=) c.1766C= (p.Ser589=) c.276+16270G= (n.276+16270G=) c.*220+6274C= (n.*220+6274C=) c.890C= (p.Ser297=) c.917C= (p.Ser306=) c.1772C= (p.Ser591=) c.1586C= (p.Ser529=) c.1505C= (p.Ser502=) c.1211C= (p.Ser404=) c.1592C= (p.Ser531=) | |
2 | g.48687950G>T | CA123923 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1847C>A (p.Ser616Tyr) c.*159C>A (n.*159C>A) c.3441+16270G>T (n.3441+16270G>T) c.*591C>A (n.*591C>A) c.1766C>A (p.Ser589Tyr) c.276+16270G>T (n.276+16270G>T) c.*220+6274C>A (n.*220+6274C>A) c.890C>A (p.Ser297Tyr) c.917C>A (p.Ser306Tyr) c.1772C>A (p.Ser591Tyr) c.1586C>A (p.Ser529Tyr) c.1505C>A (p.Ser502Tyr) c.1211C>A (p.Ser404Tyr) c.1592C>A (p.Ser531Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48687951A= | CA1248600916 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1846T= (p.Ser616=) c.*158T= (n.*158T=) c.3441+16271A= (n.3441+16271A=) c.*590T= (n.*590T=) c.1765T= (p.Ser589=) c.276+16271A= (n.276+16271A=) c.*220+6273T= (n.*220+6273T=) c.889T= (p.Ser297=) c.916T= (p.Ser306=) c.1771T= (p.Ser591=) c.1585T= (p.Ser529=) c.1504T= (p.Ser502=) c.1210T= (p.Ser404=) c.1591T= (p.Ser531=) | |
2 | g.48687951A>C | CA346744206 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1846T>G (p.Ser616Ala) c.*158T>G (n.*158T>G) c.3441+16271A>C (n.3441+16271A>C) c.*590T>G (n.*590T>G) c.1765T>G (p.Ser589Ala) c.276+16271A>C (n.276+16271A>C) c.*220+6273T>G (n.*220+6273T>G) c.889T>G (p.Ser297Ala) c.916T>G (p.Ser306Ala) c.1771T>G (p.Ser591Ala) c.1585T>G (p.Ser529Ala) c.1504T>G (p.Ser502Ala) c.1210T>G (p.Ser404Ala) c.1591T>G (p.Ser531Ala) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48687951A>G | CA346744208 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1846T>C (p.Ser616Pro) c.*158T>C (n.*158T>C) c.3441+16271A>G (n.3441+16271A>G) c.*590T>C (n.*590T>C) c.1765T>C (p.Ser589Pro) c.276+16271A>G (n.276+16271A>G) c.*220+6273T>C (n.*220+6273T>C) c.889T>C (p.Ser297Pro) c.916T>C (p.Ser306Pro) c.1771T>C (p.Ser591Pro) c.1585T>C (p.Ser529Pro) c.1504T>C (p.Ser502Pro) c.1210T>C (p.Ser404Pro) c.1591T>C (p.Ser531Pro) | gnomAD v4 |
2 | g.48687951A>T | CA346744209 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1846T>A (p.Ser616Thr) c.*158T>A (n.*158T>A) c.3441+16271A>T (n.3441+16271A>T) c.*590T>A (n.*590T>A) c.1765T>A (p.Ser589Thr) c.276+16271A>T (n.276+16271A>T) c.*220+6273T>A (n.*220+6273T>A) c.889T>A (p.Ser297Thr) c.916T>A (p.Ser306Thr) c.1771T>A (p.Ser591Thr) c.1585T>A (p.Ser529Thr) c.1504T>A (p.Ser502Thr) c.1210T>A (p.Ser404Thr) c.1591T>A (p.Ser531Thr) | |
2 | g.48687952A= | CA1248600917 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1845T= (p.Asn615=) c.*157T= (n.*157T=) c.3441+16272A= (n.3441+16272A=) c.*589T= (n.*589T=) c.1764T= (p.Asn588=) c.276+16272A= (n.276+16272A=) c.*220+6272T= (n.*220+6272T=) c.888T= (p.Asn296=) c.915T= (p.Asn305=) c.1770T= (p.Asn590=) c.1584T= (p.Asn528=) c.1503T= (p.Asn501=) c.1209T= (p.Asn403=) c.1590T= (p.Asn530=) | |
2 | g.48687952A>C | CA346744210 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1845T>G (p.Asn615Lys) c.*157T>G (n.*157T>G) c.3441+16272A>C (n.3441+16272A>C) c.*589T>G (n.*589T>G) c.1764T>G (p.Asn588Lys) c.276+16272A>C (n.276+16272A>C) c.*220+6272T>G (n.*220+6272T>G) c.888T>G (p.Asn296Lys) c.915T>G (p.Asn305Lys) c.1770T>G (p.Asn590Lys) c.1584T>G (p.Asn528Lys) c.1503T>G (p.Asn501Lys) c.1209T>G (p.Asn403Lys) c.1590T>G (p.Asn530Lys) | |
2 | g.48687952A>G | CA1652977 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1845T>C (p.Asn615=) c.*157T>C (n.*157T>C) c.3441+16272A>G (n.3441+16272A>G) c.*589T>C (n.*589T>C) c.1764T>C (p.Asn588=) c.276+16272A>G (n.276+16272A>G) c.*220+6272T>C (n.*220+6272T>C) c.888T>C (p.Asn296=) c.915T>C (p.Asn305=) c.1770T>C (p.Asn590=) c.1584T>C (p.Asn528=) c.1503T>C (p.Asn501=) c.1209T>C (p.Asn403=) c.1590T>C (p.Asn530=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48687952A>T | CA346744217 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1845T>A (p.Asn615Lys) c.*157T>A (n.*157T>A) c.3441+16272A>T (n.3441+16272A>T) c.*589T>A (n.*589T>A) c.1764T>A (p.Asn588Lys) c.276+16272A>T (n.276+16272A>T) c.*220+6272T>A (n.*220+6272T>A) c.888T>A (p.Asn296Lys) c.915T>A (p.Asn305Lys) c.1770T>A (p.Asn590Lys) c.1584T>A (p.Asn528Lys) c.1503T>A (p.Asn501Lys) c.1209T>A (p.Asn403Lys) c.1590T>A (p.Asn530Lys) | COSMIC |
2 | g.48687952_48687953dup | CA532706162 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1844_1845dup (p.Ser616IlefsTer24) c.*156_*157dup (n.*156_*157dup) c.3441+16272_3441+16273dup (n.3441+16272_3441+16273dup) c.*588_*589dup (n.*588_*589dup) c.1763_1764dup (p.Ser589IlefsTer24) c.276+16272_276+16273dup (n.276+16272_276+16273dup) c.*220+6271_*220+6272dup (n.*220+6271_*220+6272dup) c.887_888dup (p.Ser297IlefsTer24) c.914_915dup (p.Ser306IlefsTer24) c.1769_1770dup (p.Ser591IlefsTer24) c.1583_1584dup (p.Ser529IlefsTer24) c.1502_1503dup (p.Ser502IlefsTer24) c.1208_1209dup (p.Ser404IlefsTer24) c.1589_1590dup (p.Ser531IlefsTer24) | gnomAD v2 gnomAD v4 |
2 | g.48687953T>A | CA346744229 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1844A>T (p.Asn615Ile) c.*156A>T (n.*156A>T) c.3441+16273T>A (n.3441+16273T>A) c.*588A>T (n.*588A>T) c.1763A>T (p.Asn588Ile) c.276+16273T>A (n.276+16273T>A) c.*220+6271A>T (n.*220+6271A>T) c.887A>T (p.Asn296Ile) c.914A>T (p.Asn305Ile) c.1769A>T (p.Asn590Ile) c.1583A>T (p.Asn528Ile) c.1502A>T (p.Asn501Ile) c.1208A>T (p.Asn403Ile) c.1589A>T (p.Asn530Ile) | |
2 | g.48687953T>C | CA346744233 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1844A>G (p.Asn615Ser) c.*156A>G (n.*156A>G) c.3441+16273T>C (n.3441+16273T>C) c.*588A>G (n.*588A>G) c.1763A>G (p.Asn588Ser) c.276+16273T>C (n.276+16273T>C) c.*220+6271A>G (n.*220+6271A>G) c.887A>G (p.Asn296Ser) c.914A>G (p.Asn305Ser) c.1769A>G (p.Asn590Ser) c.1583A>G (p.Asn528Ser) c.1502A>G (p.Asn501Ser) c.1208A>G (p.Asn403Ser) c.1589A>G (p.Asn530Ser) | |
2 | g.48687953T>G | CA346744235 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1844A>C (p.Asn615Thr) c.*156A>C (n.*156A>C) c.3441+16273T>G (n.3441+16273T>G) c.*588A>C (n.*588A>C) c.1763A>C (p.Asn588Thr) c.276+16273T>G (n.276+16273T>G) c.*220+6271A>C (n.*220+6271A>C) c.887A>C (p.Asn296Thr) c.914A>C (p.Asn305Thr) c.1769A>C (p.Asn590Thr) c.1583A>C (p.Asn528Thr) c.1502A>C (p.Asn501Thr) c.1208A>C (p.Asn403Thr) c.1589A>C (p.Asn530Thr) | gnomAD v4 |
2 | g.48687954T>A | CA346744237 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1843A>T (p.Asn615Tyr) c.*155A>T (n.*155A>T) c.3441+16274T>A (n.3441+16274T>A) c.*587A>T (n.*587A>T) c.1762A>T (p.Asn588Tyr) c.276+16274T>A (n.276+16274T>A) c.*220+6270A>T (n.*220+6270A>T) c.886A>T (p.Asn296Tyr) c.913A>T (p.Asn305Tyr) c.1768A>T (p.Asn590Tyr) c.1582A>T (p.Asn528Tyr) c.1501A>T (p.Asn501Tyr) c.1207A>T (p.Asn403Tyr) c.1588A>T (p.Asn530Tyr) | |
2 | g.48687954T>C | CA346744238 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1843A>G (p.Asn615Asp) c.*155A>G (n.*155A>G) c.3441+16274T>C (n.3441+16274T>C) c.*587A>G (n.*587A>G) c.1762A>G (p.Asn588Asp) c.276+16274T>C (n.276+16274T>C) c.*220+6270A>G (n.*220+6270A>G) c.886A>G (p.Asn296Asp) c.913A>G (p.Asn305Asp) c.1768A>G (p.Asn590Asp) c.1582A>G (p.Asn528Asp) c.1501A>G (p.Asn501Asp) c.1207A>G (p.Asn403Asp) c.1588A>G (p.Asn530Asp) | |
2 | g.48687954T>G | CA346744239 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1843A>C (p.Asn615His) c.*155A>C (n.*155A>C) c.3441+16274T>G (n.3441+16274T>G) c.*587A>C (n.*587A>C) c.1762A>C (p.Asn588His) c.276+16274T>G (n.276+16274T>G) c.*220+6270A>C (n.*220+6270A>C) c.886A>C (p.Asn296His) c.913A>C (p.Asn305His) c.1768A>C (p.Asn590His) c.1582A>C (p.Asn528His) c.1501A>C (p.Asn501His) c.1207A>C (p.Asn403His) c.1588A>C (p.Asn530His) | |
2 | g.48687955G>A | CA426125546 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1842C>T (p.Ile614=) c.*154C>T (n.*154C>T) c.3441+16275G>A (n.3441+16275G>A) c.*586C>T (n.*586C>T) c.1761C>T (p.Ile587=) c.276+16275G>A (n.276+16275G>A) c.*220+6269C>T (n.*220+6269C>T) c.885C>T (p.Ile295=) c.912C>T (p.Ile304=) c.1767C>T (p.Ile589=) c.1581C>T (p.Ile527=) c.1500C>T (p.Ile500=) c.1206C>T (p.Ile402=) c.1587C>T (p.Ile529=) | |
2 | g.48687955G>C | CA346744240 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1842C>G (p.Ile614Met) c.*154C>G (n.*154C>G) c.3441+16275G>C (n.3441+16275G>C) c.*586C>G (n.*586C>G) c.1761C>G (p.Ile587Met) c.276+16275G>C (n.276+16275G>C) c.*220+6269C>G (n.*220+6269C>G) c.885C>G (p.Ile295Met) c.912C>G (p.Ile304Met) c.1767C>G (p.Ile589Met) c.1581C>G (p.Ile527Met) c.1500C>G (p.Ile500Met) c.1206C>G (p.Ile402Met) c.1587C>G (p.Ile529Met) | |
2 | g.48687955G>T | CA426125549 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1842C>A (p.Ile614=) c.*154C>A (n.*154C>A) c.3441+16275G>T (n.3441+16275G>T) c.*586C>A (n.*586C>A) c.1761C>A (p.Ile587=) c.276+16275G>T (n.276+16275G>T) c.*220+6269C>A (n.*220+6269C>A) c.885C>A (p.Ile295=) c.912C>A (p.Ile304=) c.1767C>A (p.Ile589=) c.1581C>A (p.Ile527=) c.1500C>A (p.Ile500=) c.1206C>A (p.Ile402=) c.1587C>A (p.Ile529=) | |
2 | g.48687956A= | CA1248600918 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1841T= (p.Ile614=) c.*153T= (n.*153T=) c.3441+16276A= (n.3441+16276A=) c.*585T= (n.*585T=) c.1760T= (p.Ile587=) c.276+16276A= (n.276+16276A=) c.*220+6268T= (n.*220+6268T=) c.884T= (p.Ile295=) c.911T= (p.Ile304=) c.1766T= (p.Ile589=) c.1580T= (p.Ile527=) c.1499T= (p.Ile500=) c.1205T= (p.Ile402=) c.1586T= (p.Ile529=) | |
2 | g.48687956A>C | CA1652979 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1841T>G (p.Ile614Ser) c.*153T>G (n.*153T>G) c.3441+16276A>C (n.3441+16276A>C) c.*585T>G (n.*585T>G) c.1760T>G (p.Ile587Ser) c.276+16276A>C (n.276+16276A>C) c.*220+6268T>G (n.*220+6268T>G) c.884T>G (p.Ile295Ser) c.911T>G (p.Ile304Ser) c.1766T>G (p.Ile589Ser) c.1580T>G (p.Ile527Ser) c.1499T>G (p.Ile500Ser) c.1205T>G (p.Ile402Ser) c.1586T>G (p.Ile529Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48687956A>G | CA346744242 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1841T>C (p.Ile614Thr) c.*153T>C (n.*153T>C) c.3441+16276A>G (n.3441+16276A>G) c.*585T>C (n.*585T>C) c.1760T>C (p.Ile587Thr) c.276+16276A>G (n.276+16276A>G) c.*220+6268T>C (n.*220+6268T>C) c.884T>C (p.Ile295Thr) c.911T>C (p.Ile304Thr) c.1766T>C (p.Ile589Thr) c.1580T>C (p.Ile527Thr) c.1499T>C (p.Ile500Thr) c.1205T>C (p.Ile402Thr) c.1586T>C (p.Ile529Thr) | |
2 | g.48687956A>T | CA1652978 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1841T>A (p.Ile614Asn) c.*153T>A (n.*153T>A) c.3441+16276A>T (n.3441+16276A>T) c.*585T>A (n.*585T>A) c.1760T>A (p.Ile587Asn) c.276+16276A>T (n.276+16276A>T) c.*220+6268T>A (n.*220+6268T>A) c.884T>A (p.Ile295Asn) c.911T>A (p.Ile304Asn) c.1766T>A (p.Ile589Asn) c.1580T>A (p.Ile527Asn) c.1499T>A (p.Ile500Asn) c.1205T>A (p.Ile402Asn) c.1586T>A (p.Ile529Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48687957T>A | CA346744259 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1840A>T (p.Ile614Phe) c.*152A>T (n.*152A>T) c.3441+16277T>A (n.3441+16277T>A) c.*584A>T (n.*584A>T) c.1759A>T (p.Ile587Phe) c.276+16277T>A (n.276+16277T>A) c.*220+6267A>T (n.*220+6267A>T) c.883A>T (p.Ile295Phe) c.910A>T (p.Ile304Phe) c.1765A>T (p.Ile589Phe) c.1579A>T (p.Ile527Phe) c.1498A>T (p.Ile500Phe) c.1204A>T (p.Ile402Phe) c.1585A>T (p.Ile529Phe) | |
2 | g.48687957T>C | CA346744260 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1840A>G (p.Ile614Val) c.*152A>G (n.*152A>G) c.3441+16277T>C (n.3441+16277T>C) c.*584A>G (n.*584A>G) c.1759A>G (p.Ile587Val) c.276+16277T>C (n.276+16277T>C) c.*220+6267A>G (n.*220+6267A>G) c.883A>G (p.Ile295Val) c.910A>G (p.Ile304Val) c.1765A>G (p.Ile589Val) c.1579A>G (p.Ile527Val) c.1498A>G (p.Ile500Val) c.1204A>G (p.Ile402Val) c.1585A>G (p.Ile529Val) | |
2 | g.48687957T>G | CA346744264 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1840A>C (p.Ile614Leu) c.*152A>C (n.*152A>C) c.3441+16277T>G (n.3441+16277T>G) c.*584A>C (n.*584A>C) c.1759A>C (p.Ile587Leu) c.276+16277T>G (n.276+16277T>G) c.*220+6267A>C (n.*220+6267A>C) c.883A>C (p.Ile295Leu) c.910A>C (p.Ile304Leu) c.1765A>C (p.Ile589Leu) c.1579A>C (p.Ile527Leu) c.1498A>C (p.Ile500Leu) c.1204A>C (p.Ile402Leu) c.1585A>C (p.Ile529Leu) | |
2 | g.48687958G>A | CA426125559 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1839C>T (p.Pro613=) c.*151C>T (n.*151C>T) c.3441+16278G>A (n.3441+16278G>A) c.*583C>T (n.*583C>T) c.1758C>T (p.Pro586=) c.276+16278G>A (n.276+16278G>A) c.*220+6266C>T (n.*220+6266C>T) c.882C>T (p.Pro294=) c.909C>T (p.Pro303=) c.1764C>T (p.Pro588=) c.1578C>T (p.Pro526=) c.1497C>T (p.Pro499=) c.1203C>T (p.Pro401=) c.1584C>T (p.Pro528=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48687958G>C | CA426125560 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1839C>G (p.Pro613=) c.*151C>G (n.*151C>G) c.3441+16278G>C (n.3441+16278G>C) c.*583C>G (n.*583C>G) c.1758C>G (p.Pro586=) c.276+16278G>C (n.276+16278G>C) c.*220+6266C>G (n.*220+6266C>G) c.882C>G (p.Pro294=) c.909C>G (p.Pro303=) c.1764C>G (p.Pro588=) c.1578C>G (p.Pro526=) c.1497C>G (p.Pro499=) c.1203C>G (p.Pro401=) c.1584C>G (p.Pro528=) | |
2 | g.48687958G= | CA1248600919 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1839C= (p.Pro613=) c.*151C= (n.*151C=) c.3441+16278G= (n.3441+16278G=) c.*583C= (n.*583C=) c.1758C= (p.Pro586=) c.276+16278G= (n.276+16278G=) c.*220+6266C= (n.*220+6266C=) c.882C= (p.Pro294=) c.909C= (p.Pro303=) c.1764C= (p.Pro588=) c.1578C= (p.Pro526=) c.1497C= (p.Pro499=) c.1203C= (p.Pro401=) c.1584C= (p.Pro528=) | |
2 | g.48687958G>T | CA426125562 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1839C>A (p.Pro613=) c.*151C>A (n.*151C>A) c.3441+16278G>T (n.3441+16278G>T) c.*583C>A (n.*583C>A) c.1758C>A (p.Pro586=) c.276+16278G>T (n.276+16278G>T) c.*220+6266C>A (n.*220+6266C>A) c.882C>A (p.Pro294=) c.909C>A (p.Pro303=) c.1764C>A (p.Pro588=) c.1578C>A (p.Pro526=) c.1497C>A (p.Pro499=) c.1203C>A (p.Pro401=) c.1584C>A (p.Pro528=) | dbSNP gnomAD v4 |
2 | g.48687959G>A | CA346744267 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1838C>T (p.Pro613Leu) c.*150C>T (n.*150C>T) c.3441+16279G>A (n.3441+16279G>A) c.*582C>T (n.*582C>T) c.1757C>T (p.Pro586Leu) c.276+16279G>A (n.276+16279G>A) c.*220+6265C>T (n.*220+6265C>T) c.881C>T (p.Pro294Leu) c.908C>T (p.Pro303Leu) c.1763C>T (p.Pro588Leu) c.1577C>T (p.Pro526Leu) c.1496C>T (p.Pro499Leu) c.1202C>T (p.Pro401Leu) c.1583C>T (p.Pro528Leu) | |
2 | g.48687959G>C | CA1652980 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1838C>G (p.Pro613Arg) c.*150C>G (n.*150C>G) c.3441+16279G>C (n.3441+16279G>C) c.*582C>G (n.*582C>G) c.1757C>G (p.Pro586Arg) c.276+16279G>C (n.276+16279G>C) c.*220+6265C>G (n.*220+6265C>G) c.881C>G (p.Pro294Arg) c.908C>G (p.Pro303Arg) c.1763C>G (p.Pro588Arg) c.1577C>G (p.Pro526Arg) c.1496C>G (p.Pro499Arg) c.1202C>G (p.Pro401Arg) c.1583C>G (p.Pro528Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48687959G= | CA1248600920 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1838C= (p.Pro613=) c.*150C= (n.*150C=) c.3441+16279G= (n.3441+16279G=) c.*582C= (n.*582C=) c.1757C= (p.Pro586=) c.276+16279G= (n.276+16279G=) c.*220+6265C= (n.*220+6265C=) c.881C= (p.Pro294=) c.908C= (p.Pro303=) c.1763C= (p.Pro588=) c.1577C= (p.Pro526=) c.1496C= (p.Pro499=) c.1202C= (p.Pro401=) c.1583C= (p.Pro528=) | |
2 | g.48687959G>T | CA346744271 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1838C>A (p.Pro613His) c.*150C>A (n.*150C>A) c.3441+16279G>T (n.3441+16279G>T) c.*582C>A (n.*582C>A) c.1757C>A (p.Pro586His) c.276+16279G>T (n.276+16279G>T) c.*220+6265C>A (n.*220+6265C>A) c.881C>A (p.Pro294His) c.908C>A (p.Pro303His) c.1763C>A (p.Pro588His) c.1577C>A (p.Pro526His) c.1496C>A (p.Pro499His) c.1202C>A (p.Pro401His) c.1583C>A (p.Pro528His) | |
2 | g.48687960G>A | CA346744274 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1837C>T (p.Pro613Ser) c.*149C>T (n.*149C>T) c.3441+16280G>A (n.3441+16280G>A) c.*581C>T (n.*581C>T) c.1756C>T (p.Pro586Ser) c.276+16280G>A (n.276+16280G>A) c.*220+6264C>T (n.*220+6264C>T) c.880C>T (p.Pro294Ser) c.907C>T (p.Pro303Ser) c.1762C>T (p.Pro588Ser) c.1576C>T (p.Pro526Ser) c.1495C>T (p.Pro499Ser) c.1201C>T (p.Pro401Ser) c.1582C>T (p.Pro528Ser) | COSMIC |
2 | g.48687960G>C | CA346744276 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1837C>G (p.Pro613Ala) c.*149C>G (n.*149C>G) c.3441+16280G>C (n.3441+16280G>C) c.*581C>G (n.*581C>G) c.1756C>G (p.Pro586Ala) c.276+16280G>C (n.276+16280G>C) c.*220+6264C>G (n.*220+6264C>G) c.880C>G (p.Pro294Ala) c.907C>G (p.Pro303Ala) c.1762C>G (p.Pro588Ala) c.1576C>G (p.Pro526Ala) c.1495C>G (p.Pro499Ala) c.1201C>G (p.Pro401Ala) c.1582C>G (p.Pro528Ala) | |
2 | g.48687960G>T | CA346744279 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1837C>A (p.Pro613Thr) c.*149C>A (n.*149C>A) c.3441+16280G>T (n.3441+16280G>T) c.*581C>A (n.*581C>A) c.1756C>A (p.Pro586Thr) c.276+16280G>T (n.276+16280G>T) c.*220+6264C>A (n.*220+6264C>A) c.880C>A (p.Pro294Thr) c.907C>A (p.Pro303Thr) c.1762C>A (p.Pro588Thr) c.1576C>A (p.Pro526Thr) c.1495C>A (p.Pro499Thr) c.1201C>A (p.Pro401Thr) c.1582C>A (p.Pro528Thr) | |
2 | g.48687961A>C | CA346744284 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1836T>G (p.Tyr612Ter) c.*148T>G (n.*148T>G) c.3441+16281A>C (n.3441+16281A>C) c.*580T>G (n.*580T>G) c.1755T>G (p.Tyr585Ter) c.276+16281A>C (n.276+16281A>C) c.*220+6263T>G (n.*220+6263T>G) c.879T>G (p.Tyr293Ter) c.906T>G (p.Tyr302Ter) c.1761T>G (p.Tyr587Ter) c.1575T>G (p.Tyr525Ter) c.1494T>G (p.Tyr498Ter) c.1200T>G (p.Tyr400Ter) c.1581T>G (p.Tyr527Ter) | |
2 | g.48687961A>G | CA426125577 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1836T>C (p.Tyr612=) c.*148T>C (n.*148T>C) c.3441+16281A>G (n.3441+16281A>G) c.*580T>C (n.*580T>C) c.1755T>C (p.Tyr585=) c.276+16281A>G (n.276+16281A>G) c.*220+6263T>C (n.*220+6263T>C) c.879T>C (p.Tyr293=) c.906T>C (p.Tyr302=) c.1761T>C (p.Tyr587=) c.1575T>C (p.Tyr525=) c.1494T>C (p.Tyr498=) c.1200T>C (p.Tyr400=) c.1581T>C (p.Tyr527=) | |
2 | g.48687961A>T | CA346744287 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1836T>A (p.Tyr612Ter) c.*148T>A (n.*148T>A) c.3441+16281A>T (n.3441+16281A>T) c.*580T>A (n.*580T>A) c.1755T>A (p.Tyr585Ter) c.276+16281A>T (n.276+16281A>T) c.*220+6263T>A (n.*220+6263T>A) c.879T>A (p.Tyr293Ter) c.906T>A (p.Tyr302Ter) c.1761T>A (p.Tyr587Ter) c.1575T>A (p.Tyr525Ter) c.1494T>A (p.Tyr498Ter) c.1200T>A (p.Tyr400Ter) c.1581T>A (p.Tyr527Ter) | |
2 | g.48687962T>A | CA346744290 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1835A>T (p.Tyr612Phe) c.*147A>T (n.*147A>T) c.3441+16282T>A (n.3441+16282T>A) c.*579A>T (n.*579A>T) c.1754A>T (p.Tyr585Phe) c.276+16282T>A (n.276+16282T>A) c.*220+6262A>T (n.*220+6262A>T) c.878A>T (p.Tyr293Phe) c.905A>T (p.Tyr302Phe) c.1760A>T (p.Tyr587Phe) c.1574A>T (p.Tyr525Phe) c.1493A>T (p.Tyr498Phe) c.1199A>T (p.Tyr400Phe) c.1580A>T (p.Tyr527Phe) | |
2 | g.48687962T>C | CA346744288 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1835A>G (p.Tyr612Cys) c.*147A>G (n.*147A>G) c.3441+16282T>C (n.3441+16282T>C) c.*579A>G (n.*579A>G) c.1754A>G (p.Tyr585Cys) c.276+16282T>C (n.276+16282T>C) c.*220+6262A>G (n.*220+6262A>G) c.878A>G (p.Tyr293Cys) c.905A>G (p.Tyr302Cys) c.1760A>G (p.Tyr587Cys) c.1574A>G (p.Tyr525Cys) c.1493A>G (p.Tyr498Cys) c.1199A>G (p.Tyr400Cys) c.1580A>G (p.Tyr527Cys) | dbSNP |
2 | g.48687962T>G | CA346744289 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1835A>C (p.Tyr612Ser) c.*147A>C (n.*147A>C) c.3441+16282T>G (n.3441+16282T>G) c.*579A>C (n.*579A>C) c.1754A>C (p.Tyr585Ser) c.276+16282T>G (n.276+16282T>G) c.*220+6262A>C (n.*220+6262A>C) c.878A>C (p.Tyr293Ser) c.905A>C (p.Tyr302Ser) c.1760A>C (p.Tyr587Ser) c.1574A>C (p.Tyr525Ser) c.1493A>C (p.Tyr498Ser) c.1199A>C (p.Tyr400Ser) c.1580A>C (p.Tyr527Ser) | |
2 | g.48687962T= | CA1248600921 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1835A= (p.Tyr612=) c.*147A= (n.*147A=) c.3441+16282T= (n.3441+16282T=) c.*579A= (n.*579A=) c.1754A= (p.Tyr585=) c.276+16282T= (n.276+16282T=) c.*220+6262A= (n.*220+6262A=) c.878A= (p.Tyr293=) c.905A= (p.Tyr302=) c.1760A= (p.Tyr587=) c.1574A= (p.Tyr525=) c.1493A= (p.Tyr498=) c.1199A= (p.Tyr400=) c.1580A= (p.Tyr527=) | |
2 | g.48687963A= | CA1248600922 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1834T= (p.Tyr612=) c.*146T= (n.*146T=) c.3441+16283A= (n.3441+16283A=) c.*578T= (n.*578T=) c.1753T= (p.Tyr585=) c.276+16283A= (n.276+16283A=) c.*220+6261T= (n.*220+6261T=) c.877T= (p.Tyr293=) c.904T= (p.Tyr302=) c.1759T= (p.Tyr587=) c.1573T= (p.Tyr525=) c.1492T= (p.Tyr498=) c.1198T= (p.Tyr400=) c.1579T= (p.Tyr527=) | |
2 | g.48687963A>C | CA346744291 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1834T>G (p.Tyr612Asp) c.*146T>G (n.*146T>G) c.3441+16283A>C (n.3441+16283A>C) c.*578T>G (n.*578T>G) c.1753T>G (p.Tyr585Asp) c.276+16283A>C (n.276+16283A>C) c.*220+6261T>G (n.*220+6261T>G) c.877T>G (p.Tyr293Asp) c.904T>G (p.Tyr302Asp) c.1759T>G (p.Tyr587Asp) c.1573T>G (p.Tyr525Asp) c.1492T>G (p.Tyr498Asp) c.1198T>G (p.Tyr400Asp) c.1579T>G (p.Tyr527Asp) | |
2 | g.48687963A>G | CA346744294 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1834T>C (p.Tyr612His) c.*146T>C (n.*146T>C) c.3441+16283A>G (n.3441+16283A>G) c.*578T>C (n.*578T>C) c.1753T>C (p.Tyr585His) c.276+16283A>G (n.276+16283A>G) c.*220+6261T>C (n.*220+6261T>C) c.877T>C (p.Tyr293His) c.904T>C (p.Tyr302His) c.1759T>C (p.Tyr587His) c.1573T>C (p.Tyr525His) c.1492T>C (p.Tyr498His) c.1198T>C (p.Tyr400His) c.1579T>C (p.Tyr527His) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48687963A>T | CA346744295 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1834T>A (p.Tyr612Asn) c.*146T>A (n.*146T>A) c.3441+16283A>T (n.3441+16283A>T) c.*578T>A (n.*578T>A) c.1753T>A (p.Tyr585Asn) c.276+16283A>T (n.276+16283A>T) c.*220+6261T>A (n.*220+6261T>A) c.877T>A (p.Tyr293Asn) c.904T>A (p.Tyr302Asn) c.1759T>A (p.Tyr587Asn) c.1573T>A (p.Tyr525Asn) c.1492T>A (p.Tyr498Asn) c.1198T>A (p.Tyr400Asn) c.1579T>A (p.Tyr527Asn) | |
2 | g.48687968dup | CA2658992079 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1834dup (p.Tyr612LeufsTer17) c.*146dup (n.*146dup) c.3441+16288dup (n.3441+16288dup) c.*578dup (n.*578dup) c.1753dup (p.Tyr585LeufsTer17) c.276+16288dup (n.276+16288dup) c.*220+6261dup (n.*220+6261dup) c.877dup (p.Tyr293LeufsTer17) c.904dup (p.Tyr302LeufsTer17) c.1759dup (p.Tyr587LeufsTer17) c.1573dup (p.Tyr525LeufsTer17) c.1492dup (p.Tyr498LeufsTer17) c.1198dup (p.Tyr400LeufsTer17) c.1579dup (p.Tyr527LeufsTer17) | gnomAD v4 |
2 | g.48687964A>C | CA346744296 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1833T>G (p.Phe611Leu) c.*145T>G (n.*145T>G) c.3441+16284A>C (n.3441+16284A>C) c.*577T>G (n.*577T>G) c.1752T>G (p.Phe584Leu) c.276+16284A>C (n.276+16284A>C) c.*220+6260T>G (n.*220+6260T>G) c.876T>G (p.Phe292Leu) c.903T>G (p.Phe301Leu) c.1758T>G (p.Phe586Leu) c.1572T>G (p.Phe524Leu) c.1491T>G (p.Phe497Leu) c.1197T>G (p.Phe399Leu) c.1578T>G (p.Phe526Leu) | |
2 | g.48687964A>G | CA426125593 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1833T>C (p.Phe611=) c.*145T>C (n.*145T>C) c.3441+16284A>G (n.3441+16284A>G) c.*577T>C (n.*577T>C) c.1752T>C (p.Phe584=) c.276+16284A>G (n.276+16284A>G) c.*220+6260T>C (n.*220+6260T>C) c.876T>C (p.Phe292=) c.903T>C (p.Phe301=) c.1758T>C (p.Phe586=) c.1572T>C (p.Phe524=) c.1491T>C (p.Phe497=) c.1197T>C (p.Phe399=) c.1578T>C (p.Phe526=) | |
2 | g.48687964A>T | CA346744297 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1833T>A (p.Phe611Leu) c.*145T>A (n.*145T>A) c.3441+16284A>T (n.3441+16284A>T) c.*577T>A (n.*577T>A) c.1752T>A (p.Phe584Leu) c.276+16284A>T (n.276+16284A>T) c.*220+6260T>A (n.*220+6260T>A) c.876T>A (p.Phe292Leu) c.903T>A (p.Phe301Leu) c.1758T>A (p.Phe586Leu) c.1572T>A (p.Phe524Leu) c.1491T>A (p.Phe497Leu) c.1197T>A (p.Phe399Leu) c.1578T>A (p.Phe526Leu) | |
2 | g.48687965A>C | CA346744298 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1832T>G (p.Phe611Cys) c.*144T>G (n.*144T>G) c.3441+16285A>C (n.3441+16285A>C) c.*576T>G (n.*576T>G) c.1751T>G (p.Phe584Cys) c.276+16285A>C (n.276+16285A>C) c.*220+6259T>G (n.*220+6259T>G) c.875T>G (p.Phe292Cys) c.902T>G (p.Phe301Cys) c.1757T>G (p.Phe586Cys) c.1571T>G (p.Phe524Cys) c.1490T>G (p.Phe497Cys) c.1196T>G (p.Phe399Cys) c.1577T>G (p.Phe526Cys) | |
2 | g.48687965A>G | CA346744299 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1832T>C (p.Phe611Ser) c.*144T>C (n.*144T>C) c.3441+16285A>G (n.3441+16285A>G) c.*576T>C (n.*576T>C) c.1751T>C (p.Phe584Ser) c.276+16285A>G (n.276+16285A>G) c.*220+6259T>C (n.*220+6259T>C) c.875T>C (p.Phe292Ser) c.902T>C (p.Phe301Ser) c.1757T>C (p.Phe586Ser) c.1571T>C (p.Phe524Ser) c.1490T>C (p.Phe497Ser) c.1196T>C (p.Phe399Ser) c.1577T>C (p.Phe526Ser) | |
2 | g.48687965A>T | CA346744300 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1832T>A (p.Phe611Tyr) c.*144T>A (n.*144T>A) c.3441+16285A>T (n.3441+16285A>T) c.*576T>A (n.*576T>A) c.1751T>A (p.Phe584Tyr) c.276+16285A>T (n.276+16285A>T) c.*220+6259T>A (n.*220+6259T>A) c.875T>A (p.Phe292Tyr) c.902T>A (p.Phe301Tyr) c.1757T>A (p.Phe586Tyr) c.1571T>A (p.Phe524Tyr) c.1490T>A (p.Phe497Tyr) c.1196T>A (p.Phe399Tyr) c.1577T>A (p.Phe526Tyr) | |
2 | g.48687966A= | CA1248600923 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1831T= (p.Phe611=) c.*143T= (n.*143T=) c.3441+16286A= (n.3441+16286A=) c.*575T= (n.*575T=) c.1750T= (p.Phe584=) c.276+16286A= (n.276+16286A=) c.*220+6258T= (n.*220+6258T=) c.874T= (p.Phe292=) c.901T= (p.Phe301=) c.1756T= (p.Phe586=) c.1570T= (p.Phe524=) c.1489T= (p.Phe497=) c.1195T= (p.Phe399=) c.1576T= (p.Phe526=) | |
2 | g.48687966A>C | CA1652981 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1831T>G (p.Phe611Val) c.*143T>G (n.*143T>G) c.3441+16286A>C (n.3441+16286A>C) c.*575T>G (n.*575T>G) c.1750T>G (p.Phe584Val) c.276+16286A>C (n.276+16286A>C) c.*220+6258T>G (n.*220+6258T>G) c.874T>G (p.Phe292Val) c.901T>G (p.Phe301Val) c.1756T>G (p.Phe586Val) c.1570T>G (p.Phe524Val) c.1489T>G (p.Phe497Val) c.1195T>G (p.Phe399Val) c.1576T>G (p.Phe526Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48687966A>G | CA346744301 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1831T>C (p.Phe611Leu) c.*143T>C (n.*143T>C) c.3441+16286A>G (n.3441+16286A>G) c.*575T>C (n.*575T>C) c.1750T>C (p.Phe584Leu) c.276+16286A>G (n.276+16286A>G) c.*220+6258T>C (n.*220+6258T>C) c.874T>C (p.Phe292Leu) c.901T>C (p.Phe301Leu) c.1756T>C (p.Phe586Leu) c.1570T>C (p.Phe524Leu) c.1489T>C (p.Phe497Leu) c.1195T>C (p.Phe399Leu) c.1576T>C (p.Phe526Leu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48687966A>T | CA346744303 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1831T>A (p.Phe611Ile) c.*143T>A (n.*143T>A) c.3441+16286A>T (n.3441+16286A>T) c.*575T>A (n.*575T>A) c.1750T>A (p.Phe584Ile) c.276+16286A>T (n.276+16286A>T) c.*220+6258T>A (n.*220+6258T>A) c.874T>A (p.Phe292Ile) c.901T>A (p.Phe301Ile) c.1756T>A (p.Phe586Ile) c.1570T>A (p.Phe524Ile) c.1489T>A (p.Phe497Ile) c.1195T>A (p.Phe399Ile) c.1576T>A (p.Phe526Ile) | |
2 | g.48687967A>C | CA426125611 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1830T>G (p.Leu610=) c.*142T>G (n.*142T>G) c.3441+16287A>C (n.3441+16287A>C) c.*574T>G (n.*574T>G) c.1749T>G (p.Leu583=) c.276+16287A>C (n.276+16287A>C) c.*220+6257T>G (n.*220+6257T>G) c.873T>G (p.Leu291=) c.900T>G (p.Leu300=) c.1755T>G (p.Leu585=) c.1569T>G (p.Leu523=) c.1488T>G (p.Leu496=) c.1194T>G (p.Leu398=) c.1575T>G (p.Leu525=) | |
2 | g.48687967A>G | CA426125610 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1830T>C (p.Leu610=) c.*142T>C (n.*142T>C) c.3441+16287A>G (n.3441+16287A>G) c.*574T>C (n.*574T>C) c.1749T>C (p.Leu583=) c.276+16287A>G (n.276+16287A>G) c.*220+6257T>C (n.*220+6257T>C) c.873T>C (p.Leu291=) c.900T>C (p.Leu300=) c.1755T>C (p.Leu585=) c.1569T>C (p.Leu523=) c.1488T>C (p.Leu496=) c.1194T>C (p.Leu398=) c.1575T>C (p.Leu525=) | |
2 | g.48687967A>T | CA426125604 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1830T>A (p.Leu610=) c.*142T>A (n.*142T>A) c.3441+16287A>T (n.3441+16287A>T) c.*574T>A (n.*574T>A) c.1749T>A (p.Leu583=) c.276+16287A>T (n.276+16287A>T) c.*220+6257T>A (n.*220+6257T>A) c.873T>A (p.Leu291=) c.900T>A (p.Leu300=) c.1755T>A (p.Leu585=) c.1569T>A (p.Leu523=) c.1488T>A (p.Leu496=) c.1194T>A (p.Leu398=) c.1575T>A (p.Leu525=) | |
2 | g.48687968A>C | CA346744311 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1829T>G (p.Leu610Arg) c.*141T>G (n.*141T>G) c.3441+16288A>C (n.3441+16288A>C) c.*573T>G (n.*573T>G) c.1748T>G (p.Leu583Arg) c.276+16288A>C (n.276+16288A>C) c.*220+6256T>G (n.*220+6256T>G) c.872T>G (p.Leu291Arg) c.899T>G (p.Leu300Arg) c.1754T>G (p.Leu585Arg) c.1568T>G (p.Leu523Arg) c.1487T>G (p.Leu496Arg) c.1193T>G (p.Leu398Arg) c.1574T>G (p.Leu525Arg) | |
2 | g.48687968A>G | CA346744307 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1829T>C (p.Leu610Pro) c.*141T>C (n.*141T>C) c.3441+16288A>G (n.3441+16288A>G) c.*573T>C (n.*573T>C) c.1748T>C (p.Leu583Pro) c.276+16288A>G (n.276+16288A>G) c.*220+6256T>C (n.*220+6256T>C) c.872T>C (p.Leu291Pro) c.899T>C (p.Leu300Pro) c.1754T>C (p.Leu585Pro) c.1568T>C (p.Leu523Pro) c.1487T>C (p.Leu496Pro) c.1193T>C (p.Leu398Pro) c.1574T>C (p.Leu525Pro) | |
2 | g.48687968A>T | CA346744306 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1829T>A (p.Leu610His) c.*141T>A (n.*141T>A) c.3441+16288A>T (n.3441+16288A>T) c.*573T>A (n.*573T>A) c.1748T>A (p.Leu583His) c.276+16288A>T (n.276+16288A>T) c.*220+6256T>A (n.*220+6256T>A) c.872T>A (p.Leu291His) c.899T>A (p.Leu300His) c.1754T>A (p.Leu585His) c.1568T>A (p.Leu523His) c.1487T>A (p.Leu496His) c.1193T>A (p.Leu398His) c.1574T>A (p.Leu525His) | |
2 | g.48687970_48687975del | CA2580067106 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1824_1829del (p.Val609_Leu610del) c.*136_*141del (n.*136_*141del) c.3441+16290_3441+16295del (n.3441+16290_3441+16295del) c.*568_*573del (n.*568_*573del) c.1743_1748del (p.Val582_Leu583del) c.276+16290_276+16295del (n.276+16290_276+16295del) c.*220+6251_*220+6256del (n.*220+6251_*220+6256del) c.867_872del (p.Val290_Leu291del) c.894_899del (p.Val299_Leu300del) c.1749_1754del (p.Val584_Leu585del) c.1563_1568del (p.Val522_Leu523del) c.1482_1487del (p.Val495_Leu496del) c.1188_1193del (p.Val397_Leu398del) c.1569_1574del (p.Val524_Leu525del) | ClinVar dbSNP gnomAD v4 |
2 | g.48687969G>A | CA346744312 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1828C>T (p.Leu610Phe) c.*140C>T (n.*140C>T) c.3441+16289G>A (n.3441+16289G>A) c.*572C>T (n.*572C>T) c.1747C>T (p.Leu583Phe) c.276+16289G>A (n.276+16289G>A) c.*220+6255C>T (n.*220+6255C>T) c.871C>T (p.Leu291Phe) c.898C>T (p.Leu300Phe) c.1753C>T (p.Leu585Phe) c.1567C>T (p.Leu523Phe) c.1486C>T (p.Leu496Phe) c.1192C>T (p.Leu398Phe) c.1573C>T (p.Leu525Phe) | |
2 | g.48687969G>C | CA46752703 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1828C>G (p.Leu610Val) c.*140C>G (n.*140C>G) c.3441+16289G>C (n.3441+16289G>C) c.*572C>G (n.*572C>G) c.1747C>G (p.Leu583Val) c.276+16289G>C (n.276+16289G>C) c.*220+6255C>G (n.*220+6255C>G) c.871C>G (p.Leu291Val) c.898C>G (p.Leu300Val) c.1753C>G (p.Leu585Val) c.1567C>G (p.Leu523Val) c.1486C>G (p.Leu496Val) c.1192C>G (p.Leu398Val) c.1573C>G (p.Leu525Val) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48687969G= | CA1248600924 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1828C= (p.Leu610=) c.*140C= (n.*140C=) c.3441+16289G= (n.3441+16289G=) c.*572C= (n.*572C=) c.1747C= (p.Leu583=) c.276+16289G= (n.276+16289G=) c.*220+6255C= (n.*220+6255C=) c.871C= (p.Leu291=) c.898C= (p.Leu300=) c.1753C= (p.Leu585=) c.1567C= (p.Leu523=) c.1486C= (p.Leu496=) c.1192C= (p.Leu398=) c.1573C= (p.Leu525=) | |
2 | g.48687969G>T | CA346744313 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1828C>A (p.Leu610Ile) c.*140C>A (n.*140C>A) c.3441+16289G>T (n.3441+16289G>T) c.*572C>A (n.*572C>A) c.1747C>A (p.Leu583Ile) c.276+16289G>T (n.276+16289G>T) c.*220+6255C>A (n.*220+6255C>A) c.871C>A (p.Leu291Ile) c.898C>A (p.Leu300Ile) c.1753C>A (p.Leu585Ile) c.1567C>A (p.Leu523Ile) c.1486C>A (p.Leu496Ile) c.1192C>A (p.Leu398Ile) c.1573C>A (p.Leu525Ile) | |
2 | g.48687970A= | CA1248600925 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1827T= (p.Val609=) c.*139T= (n.*139T=) c.3441+16290A= (n.3441+16290A=) c.*571T= (n.*571T=) c.1746T= (p.Val582=) c.276+16290A= (n.276+16290A=) c.*220+6254T= (n.*220+6254T=) c.870T= (p.Val290=) c.897T= (p.Val299=) c.1752T= (p.Val584=) c.1566T= (p.Val522=) c.1485T= (p.Val495=) c.1191T= (p.Val397=) c.1572T= (p.Val524=) | |
2 | g.48687970A>C | CA426125613 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1827T>G (p.Val609=) c.*139T>G (n.*139T>G) c.3441+16290A>C (n.3441+16290A>C) c.*571T>G (n.*571T>G) c.1746T>G (p.Val582=) c.276+16290A>C (n.276+16290A>C) c.*220+6254T>G (n.*220+6254T>G) c.870T>G (p.Val290=) c.897T>G (p.Val299=) c.1752T>G (p.Val584=) c.1566T>G (p.Val522=) c.1485T>G (p.Val495=) c.1191T>G (p.Val397=) c.1572T>G (p.Val524=) | |
2 | g.48687970A>G | CA426125616 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1827T>C (p.Val609=) c.*139T>C (n.*139T>C) c.3441+16290A>G (n.3441+16290A>G) c.*571T>C (n.*571T>C) c.1746T>C (p.Val582=) c.276+16290A>G (n.276+16290A>G) c.*220+6254T>C (n.*220+6254T>C) c.870T>C (p.Val290=) c.897T>C (p.Val299=) c.1752T>C (p.Val584=) c.1566T>C (p.Val522=) c.1485T>C (p.Val495=) c.1191T>C (p.Val397=) c.1572T>C (p.Val524=) | dbSNP |
2 | g.48687970A>T | CA426125620 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1827T>A (p.Val609=) c.*139T>A (n.*139T>A) c.3441+16290A>T (n.3441+16290A>T) c.*571T>A (n.*571T>A) c.1746T>A (p.Val582=) c.276+16290A>T (n.276+16290A>T) c.*220+6254T>A (n.*220+6254T>A) c.870T>A (p.Val290=) c.897T>A (p.Val299=) c.1752T>A (p.Val584=) c.1566T>A (p.Val522=) c.1485T>A (p.Val495=) c.1191T>A (p.Val397=) c.1572T>A (p.Val524=) | |
2 | g.48687971A>C | CA346744317 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1826T>G (p.Val609Gly) c.*138T>G (n.*138T>G) c.3441+16291A>C (n.3441+16291A>C) c.*570T>G (n.*570T>G) c.1745T>G (p.Val582Gly) c.276+16291A>C (n.276+16291A>C) c.*220+6253T>G (n.*220+6253T>G) c.869T>G (p.Val290Gly) c.896T>G (p.Val299Gly) c.1751T>G (p.Val584Gly) c.1565T>G (p.Val522Gly) c.1484T>G (p.Val495Gly) c.1190T>G (p.Val397Gly) c.1571T>G (p.Val524Gly) | |
2 | g.48687971A>G | CA346744322 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1826T>C (p.Val609Ala) c.*138T>C (n.*138T>C) c.3441+16291A>G (n.3441+16291A>G) c.*570T>C (n.*570T>C) c.1745T>C (p.Val582Ala) c.276+16291A>G (n.276+16291A>G) c.*220+6253T>C (n.*220+6253T>C) c.869T>C (p.Val290Ala) c.896T>C (p.Val299Ala) c.1751T>C (p.Val584Ala) c.1565T>C (p.Val522Ala) c.1484T>C (p.Val495Ala) c.1190T>C (p.Val397Ala) c.1571T>C (p.Val524Ala) | |
2 | g.48687971A>T | CA346744319 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1826T>A (p.Val609Asp) c.*138T>A (n.*138T>A) c.3441+16291A>T (n.3441+16291A>T) c.*570T>A (n.*570T>A) c.1745T>A (p.Val582Asp) c.276+16291A>T (n.276+16291A>T) c.*220+6253T>A (n.*220+6253T>A) c.869T>A (p.Val290Asp) c.896T>A (p.Val299Asp) c.1751T>A (p.Val584Asp) c.1565T>A (p.Val522Asp) c.1484T>A (p.Val495Asp) c.1190T>A (p.Val397Asp) c.1571T>A (p.Val524Asp) | |
2 | g.48687972C>A | CA346744326 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1825G>T (p.Val609Phe) c.*137G>T (n.*137G>T) c.3441+16292C>A (n.3441+16292C>A) c.*569G>T (n.*569G>T) c.1744G>T (p.Val582Phe) c.276+16292C>A (n.276+16292C>A) c.*220+6252G>T (n.*220+6252G>T) c.868G>T (p.Val290Phe) c.895G>T (p.Val299Phe) c.1750G>T (p.Val584Phe) c.1564G>T (p.Val522Phe) c.1483G>T (p.Val495Phe) c.1189G>T (p.Val397Phe) c.1570G>T (p.Val524Phe) | |
2 | g.48687972C= | CA1248600926 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1825G= (p.Val609=) c.*137G= (n.*137G=) c.3441+16292C= (n.3441+16292C=) c.*569G= (n.*569G=) c.1744G= (p.Val582=) c.276+16292C= (n.276+16292C=) c.*220+6252G= (n.*220+6252G=) c.868G= (p.Val290=) c.895G= (p.Val299=) c.1750G= (p.Val584=) c.1564G= (p.Val522=) c.1483G= (p.Val495=) c.1189G= (p.Val397=) c.1570G= (p.Val524=) | |
2 | g.48687972C>G | CA346744331 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1825G>C (p.Val609Leu) c.*137G>C (n.*137G>C) c.3441+16292C>G (n.3441+16292C>G) c.*569G>C (n.*569G>C) c.1744G>C (p.Val582Leu) c.276+16292C>G (n.276+16292C>G) c.*220+6252G>C (n.*220+6252G>C) c.868G>C (p.Val290Leu) c.895G>C (p.Val299Leu) c.1750G>C (p.Val584Leu) c.1564G>C (p.Val522Leu) c.1483G>C (p.Val495Leu) c.1189G>C (p.Val397Leu) c.1570G>C (p.Val524Leu) | dbSNP |
2 | g.48687972C>T | CA346744329 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1825G>A (p.Val609Ile) c.*137G>A (n.*137G>A) c.3441+16292C>T (n.3441+16292C>T) c.*569G>A (n.*569G>A) c.1744G>A (p.Val582Ile) c.276+16292C>T (n.276+16292C>T) c.*220+6252G>A (n.*220+6252G>A) c.868G>A (p.Val290Ile) c.895G>A (p.Val299Ile) c.1750G>A (p.Val584Ile) c.1564G>A (p.Val522Ile) c.1483G>A (p.Val495Ile) c.1189G>A (p.Val397Ile) c.1570G>A (p.Val524Ile) | dbSNP |
2 | g.48687973C>A | CA426125631 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1824G>T (p.Leu608=) c.*136G>T (n.*136G>T) c.3441+16293C>A (n.3441+16293C>A) c.*568G>T (n.*568G>T) c.1743G>T (p.Leu581=) c.276+16293C>A (n.276+16293C>A) c.*220+6251G>T (n.*220+6251G>T) c.867G>T (p.Leu289=) c.894G>T (p.Leu298=) c.1749G>T (p.Leu583=) c.1563G>T (p.Leu521=) c.1482G>T (p.Leu494=) c.1188G>T (p.Leu396=) c.1569G>T (p.Leu523=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48687973C= | CA1248600927 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1824G= (p.Leu608=) c.*136G= (n.*136G=) c.3441+16293C= (n.3441+16293C=) c.*568G= (n.*568G=) c.1743G= (p.Leu581=) c.276+16293C= (n.276+16293C=) c.*220+6251G= (n.*220+6251G=) c.867G= (p.Leu289=) c.894G= (p.Leu298=) c.1749G= (p.Leu583=) c.1563G= (p.Leu521=) c.1482G= (p.Leu494=) c.1188G= (p.Leu396=) c.1569G= (p.Leu523=) | |
2 | g.48687973C>G | CA426125634 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1824G>C (p.Leu608=) c.*136G>C (n.*136G>C) c.3441+16293C>G (n.3441+16293C>G) c.*568G>C (n.*568G>C) c.1743G>C (p.Leu581=) c.276+16293C>G (n.276+16293C>G) c.*220+6251G>C (n.*220+6251G>C) c.867G>C (p.Leu289=) c.894G>C (p.Leu298=) c.1749G>C (p.Leu583=) c.1563G>C (p.Leu521=) c.1482G>C (p.Leu494=) c.1188G>C (p.Leu396=) c.1569G>C (p.Leu523=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48687973C>T | CA426125633 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1824G>A (p.Leu608=) c.*136G>A (n.*136G>A) c.3441+16293C>T (n.3441+16293C>T) c.*568G>A (n.*568G>A) c.1743G>A (p.Leu581=) c.276+16293C>T (n.276+16293C>T) c.*220+6251G>A (n.*220+6251G>A) c.867G>A (p.Leu289=) c.894G>A (p.Leu298=) c.1749G>A (p.Leu583=) c.1563G>A (p.Leu521=) c.1482G>A (p.Leu494=) c.1188G>A (p.Leu396=) c.1569G>A (p.Leu523=) | |
2 | g.48687974A= | CA1248600928 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1823T= (p.Leu608=) c.*135T= (n.*135T=) c.3441+16294A= (n.3441+16294A=) c.*567T= (n.*567T=) c.1742T= (p.Leu581=) c.276+16294A= (n.276+16294A=) c.*220+6250T= (n.*220+6250T=) c.866T= (p.Leu289=) c.893T= (p.Leu298=) c.1748T= (p.Leu583=) c.1562T= (p.Leu521=) c.1481T= (p.Leu494=) c.1187T= (p.Leu396=) c.1568T= (p.Leu523=) | |
2 | g.48687974A>C | CA346744334 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1823T>G (p.Leu608Arg) c.*135T>G (n.*135T>G) c.3441+16294A>C (n.3441+16294A>C) c.*567T>G (n.*567T>G) c.1742T>G (p.Leu581Arg) c.276+16294A>C (n.276+16294A>C) c.*220+6250T>G (n.*220+6250T>G) c.866T>G (p.Leu289Arg) c.893T>G (p.Leu298Arg) c.1748T>G (p.Leu583Arg) c.1562T>G (p.Leu521Arg) c.1481T>G (p.Leu494Arg) c.1187T>G (p.Leu396Arg) c.1568T>G (p.Leu523Arg) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48687974A>G | CA346744336 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1823T>C (p.Leu608Pro) c.*135T>C (n.*135T>C) c.3441+16294A>G (n.3441+16294A>G) c.*567T>C (n.*567T>C) c.1742T>C (p.Leu581Pro) c.276+16294A>G (n.276+16294A>G) c.*220+6250T>C (n.*220+6250T>C) c.866T>C (p.Leu289Pro) c.893T>C (p.Leu298Pro) c.1748T>C (p.Leu583Pro) c.1562T>C (p.Leu521Pro) c.1481T>C (p.Leu494Pro) c.1187T>C (p.Leu396Pro) c.1568T>C (p.Leu523Pro) | dbSNP |
2 | g.48687974A>T | CA346744338 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1823T>A (p.Leu608Gln) c.*135T>A (n.*135T>A) c.3441+16294A>T (n.3441+16294A>T) c.*567T>A (n.*567T>A) c.1742T>A (p.Leu581Gln) c.276+16294A>T (n.276+16294A>T) c.*220+6250T>A (n.*220+6250T>A) c.866T>A (p.Leu289Gln) c.893T>A (p.Leu298Gln) c.1748T>A (p.Leu583Gln) c.1562T>A (p.Leu521Gln) c.1481T>A (p.Leu494Gln) c.1187T>A (p.Leu396Gln) c.1568T>A (p.Leu523Gln) | |
2 | g.48687975G>A | CA426125638 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1822C>T (p.Leu608=) c.*134C>T (n.*134C>T) c.3441+16295G>A (n.3441+16295G>A) c.*566C>T (n.*566C>T) c.1741C>T (p.Leu581=) c.276+16295G>A (n.276+16295G>A) c.*220+6249C>T (n.*220+6249C>T) c.865C>T (p.Leu289=) c.892C>T (p.Leu298=) c.1747C>T (p.Leu583=) c.1561C>T (p.Leu521=) c.1480C>T (p.Leu494=) c.1186C>T (p.Leu396=) c.1567C>T (p.Leu523=) | COSMIC |
2 | g.48687975G>C | CA346744340 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1822C>G (p.Leu608Val) c.*134C>G (n.*134C>G) c.3441+16295G>C (n.3441+16295G>C) c.*566C>G (n.*566C>G) c.1741C>G (p.Leu581Val) c.276+16295G>C (n.276+16295G>C) c.*220+6249C>G (n.*220+6249C>G) c.865C>G (p.Leu289Val) c.892C>G (p.Leu298Val) c.1747C>G (p.Leu583Val) c.1561C>G (p.Leu521Val) c.1480C>G (p.Leu494Val) c.1186C>G (p.Leu396Val) c.1567C>G (p.Leu523Val) | |
2 | g.48687975G>T | CA346744342 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1822C>A (p.Leu608Met) c.*134C>A (n.*134C>A) c.3441+16295G>T (n.3441+16295G>T) c.*566C>A (n.*566C>A) c.1741C>A (p.Leu581Met) c.276+16295G>T (n.276+16295G>T) c.*220+6249C>A (n.*220+6249C>A) c.865C>A (p.Leu289Met) c.892C>A (p.Leu298Met) c.1747C>A (p.Leu583Met) c.1561C>A (p.Leu521Met) c.1480C>A (p.Leu494Met) c.1186C>A (p.Leu396Met) c.1567C>A (p.Leu523Met) | |
2 | g.48687976T>A | CA346744344 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1821A>T (p.Leu607Phe) c.*133A>T (n.*133A>T) c.3441+16296T>A (n.3441+16296T>A) c.*565A>T (n.*565A>T) c.1740A>T (p.Leu580Phe) c.276+16296T>A (n.276+16296T>A) c.*220+6248A>T (n.*220+6248A>T) c.864A>T (p.Leu288Phe) c.891A>T (p.Leu297Phe) c.1746A>T (p.Leu582Phe) c.1560A>T (p.Leu520Phe) c.1479A>T (p.Leu493Phe) c.1185A>T (p.Leu395Phe) c.1566A>T (p.Leu522Phe) | |
2 | g.48687976T>C | CA1652982 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1821A>G (p.Leu607=) c.*133A>G (n.*133A>G) c.3441+16296T>C (n.3441+16296T>C) c.*565A>G (n.*565A>G) c.1740A>G (p.Leu580=) c.276+16296T>C (n.276+16296T>C) c.*220+6248A>G (n.*220+6248A>G) c.864A>G (p.Leu288=) c.891A>G (p.Leu297=) c.1746A>G (p.Leu582=) c.1560A>G (p.Leu520=) c.1479A>G (p.Leu493=) c.1185A>G (p.Leu395=) c.1566A>G (p.Leu522=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48687976T>G | CA346744350 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1821A>C (p.Leu607Phe) c.*133A>C (n.*133A>C) c.3441+16296T>G (n.3441+16296T>G) c.*565A>C (n.*565A>C) c.1740A>C (p.Leu580Phe) c.276+16296T>G (n.276+16296T>G) c.*220+6248A>C (n.*220+6248A>C) c.864A>C (p.Leu288Phe) c.891A>C (p.Leu297Phe) c.1746A>C (p.Leu582Phe) c.1560A>C (p.Leu520Phe) c.1479A>C (p.Leu493Phe) c.1185A>C (p.Leu395Phe) c.1566A>C (p.Leu522Phe) | |
2 | g.48687976T= | CA1248600929 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1821A= (p.Leu607=) c.*133A= (n.*133A=) c.3441+16296T= (n.3441+16296T=) c.*565A= (n.*565A=) c.1740A= (p.Leu580=) c.276+16296T= (n.276+16296T=) c.*220+6248A= (n.*220+6248A=) c.864A= (p.Leu288=) c.891A= (p.Leu297=) c.1746A= (p.Leu582=) c.1560A= (p.Leu520=) c.1479A= (p.Leu493=) c.1185A= (p.Leu395=) c.1566A= (p.Leu522=) | |
2 | g.48687977A>C | CA346744352 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1820T>G (p.Leu607Ter) c.*132T>G (n.*132T>G) c.3441+16297A>C (n.3441+16297A>C) c.*564T>G (n.*564T>G) c.1739T>G (p.Leu580Ter) c.276+16297A>C (n.276+16297A>C) c.*220+6247T>G (n.*220+6247T>G) c.863T>G (p.Leu288Ter) c.890T>G (p.Leu297Ter) c.1745T>G (p.Leu582Ter) c.1559T>G (p.Leu520Ter) c.1478T>G (p.Leu493Ter) c.1184T>G (p.Leu395Ter) c.1565T>G (p.Leu522Ter) | |
2 | g.48687977A>G | CA346744355 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1820T>C (p.Leu607Ser) c.*132T>C (n.*132T>C) c.3441+16297A>G (n.3441+16297A>G) c.*564T>C (n.*564T>C) c.1739T>C (p.Leu580Ser) c.276+16297A>G (n.276+16297A>G) c.*220+6247T>C (n.*220+6247T>C) c.863T>C (p.Leu288Ser) c.890T>C (p.Leu297Ser) c.1745T>C (p.Leu582Ser) c.1559T>C (p.Leu520Ser) c.1478T>C (p.Leu493Ser) c.1184T>C (p.Leu395Ser) c.1565T>C (p.Leu522Ser) | |
2 | g.48687977A>T | CA346744358 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1820T>A (p.Leu607Ter) c.*132T>A (n.*132T>A) c.3441+16297A>T (n.3441+16297A>T) c.*564T>A (n.*564T>A) c.1739T>A (p.Leu580Ter) c.276+16297A>T (n.276+16297A>T) c.*220+6247T>A (n.*220+6247T>A) c.863T>A (p.Leu288Ter) c.890T>A (p.Leu297Ter) c.1745T>A (p.Leu582Ter) c.1559T>A (p.Leu520Ter) c.1478T>A (p.Leu493Ter) c.1184T>A (p.Leu395Ter) c.1565T>A (p.Leu522Ter) | |
2 | g.48687978A= | CA1248600930 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1819T= (p.Leu607=) c.*131T= (n.*131T=) c.3441+16298A= (n.3441+16298A=) c.*563T= (n.*563T=) c.1738T= (p.Leu580=) c.276+16298A= (n.276+16298A=) c.*220+6246T= (n.*220+6246T=) c.862T= (p.Leu288=) c.889T= (p.Leu297=) c.1744T= (p.Leu582=) c.1558T= (p.Leu520=) c.1477T= (p.Leu493=) c.1183T= (p.Leu395=) c.1564T= (p.Leu522=) | |
2 | g.48687978A>C | CA1652983 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1819T>G (p.Leu607Val) c.*131T>G (n.*131T>G) c.3441+16298A>C (n.3441+16298A>C) c.*563T>G (n.*563T>G) c.1738T>G (p.Leu580Val) c.276+16298A>C (n.276+16298A>C) c.*220+6246T>G (n.*220+6246T>G) c.862T>G (p.Leu288Val) c.889T>G (p.Leu297Val) c.1744T>G (p.Leu582Val) c.1558T>G (p.Leu520Val) c.1477T>G (p.Leu493Val) c.1183T>G (p.Leu395Val) c.1564T>G (p.Leu522Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48687978A>G | CA426125655 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1819T>C (p.Leu607=) c.*131T>C (n.*131T>C) c.3441+16298A>G (n.3441+16298A>G) c.*563T>C (n.*563T>C) c.1738T>C (p.Leu580=) c.276+16298A>G (n.276+16298A>G) c.*220+6246T>C (n.*220+6246T>C) c.862T>C (p.Leu288=) c.889T>C (p.Leu297=) c.1744T>C (p.Leu582=) c.1558T>C (p.Leu520=) c.1477T>C (p.Leu493=) c.1183T>C (p.Leu395=) c.1564T>C (p.Leu522=) | |
2 | g.48687978A>T | CA346744361 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1819T>A (p.Leu607Ile) c.*131T>A (n.*131T>A) c.3441+16298A>T (n.3441+16298A>T) c.*563T>A (n.*563T>A) c.1738T>A (p.Leu580Ile) c.276+16298A>T (n.276+16298A>T) c.*220+6246T>A (n.*220+6246T>A) c.862T>A (p.Leu288Ile) c.889T>A (p.Leu297Ile) c.1744T>A (p.Leu582Ile) c.1558T>A (p.Leu520Ile) c.1477T>A (p.Leu493Ile) c.1183T>A (p.Leu395Ile) c.1564T>A (p.Leu522Ile) | |
2 | g.48687979A= | CA1248600931 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1818T= (p.Val606=) c.*130T= (n.*130T=) c.3441+16299A= (n.3441+16299A=) c.*562T= (n.*562T=) c.1737T= (p.Val579=) c.276+16299A= (n.276+16299A=) c.*220+6245T= (n.*220+6245T=) c.861T= (p.Val287=) c.888T= (p.Val296=) c.1743T= (p.Val581=) c.1557T= (p.Val519=) c.1476T= (p.Val492=) c.1182T= (p.Val394=) c.1563T= (p.Val521=) | |
2 | g.48687979A>C | CA426125658 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1818T>G (p.Val606=) c.*130T>G (n.*130T>G) c.3441+16299A>C (n.3441+16299A>C) c.*562T>G (n.*562T>G) c.1737T>G (p.Val579=) c.276+16299A>C (n.276+16299A>C) c.*220+6245T>G (n.*220+6245T>G) c.861T>G (p.Val287=) c.888T>G (p.Val296=) c.1743T>G (p.Val581=) c.1557T>G (p.Val519=) c.1476T>G (p.Val492=) c.1182T>G (p.Val394=) c.1563T>G (p.Val521=) | |
2 | g.48687979A>G | CA426125659 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1818T>C (p.Val606=) c.*130T>C (n.*130T>C) c.3441+16299A>G (n.3441+16299A>G) c.*562T>C (n.*562T>C) c.1737T>C (p.Val579=) c.276+16299A>G (n.276+16299A>G) c.*220+6245T>C (n.*220+6245T>C) c.861T>C (p.Val287=) c.888T>C (p.Val296=) c.1743T>C (p.Val581=) c.1557T>C (p.Val519=) c.1476T>C (p.Val492=) c.1182T>C (p.Val394=) c.1563T>C (p.Val521=) | dbSNP gnomAD v4 |
2 | g.48687979A>T | CA426125660 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1818T>A (p.Val606=) c.*130T>A (n.*130T>A) c.3441+16299A>T (n.3441+16299A>T) c.*562T>A (n.*562T>A) c.1737T>A (p.Val579=) c.276+16299A>T (n.276+16299A>T) c.*220+6245T>A (n.*220+6245T>A) c.861T>A (p.Val287=) c.888T>A (p.Val296=) c.1743T>A (p.Val581=) c.1557T>A (p.Val519=) c.1476T>A (p.Val492=) c.1182T>A (p.Val394=) c.1563T>A (p.Val521=) | |
2 | g.48687980A= | CA1248600932 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1817T= (p.Val606=) c.*129T= (n.*129T=) c.3441+16300A= (n.3441+16300A=) c.*561T= (n.*561T=) c.1736T= (p.Val579=) c.276+16300A= (n.276+16300A=) c.*220+6244T= (n.*220+6244T=) c.860T= (p.Val287=) c.887T= (p.Val296=) c.1742T= (p.Val581=) c.1556T= (p.Val519=) c.1475T= (p.Val492=) c.1181T= (p.Val394=) c.1562T= (p.Val521=) | |
2 | g.48687980A>C | CA346744365 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1817T>G (p.Val606Gly) c.*129T>G (n.*129T>G) c.3441+16300A>C (n.3441+16300A>C) c.*561T>G (n.*561T>G) c.1736T>G (p.Val579Gly) c.276+16300A>C (n.276+16300A>C) c.*220+6244T>G (n.*220+6244T>G) c.860T>G (p.Val287Gly) c.887T>G (p.Val296Gly) c.1742T>G (p.Val581Gly) c.1556T>G (p.Val519Gly) c.1475T>G (p.Val492Gly) c.1181T>G (p.Val394Gly) c.1562T>G (p.Val521Gly) | |
2 | g.48687980A>G | CA1652984 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1817T>C (p.Val606Ala) c.*129T>C (n.*129T>C) c.3441+16300A>G (n.3441+16300A>G) c.*561T>C (n.*561T>C) c.1736T>C (p.Val579Ala) c.276+16300A>G (n.276+16300A>G) c.*220+6244T>C (n.*220+6244T>C) c.860T>C (p.Val287Ala) c.887T>C (p.Val296Ala) c.1742T>C (p.Val581Ala) c.1556T>C (p.Val519Ala) c.1475T>C (p.Val492Ala) c.1181T>C (p.Val394Ala) c.1562T>C (p.Val521Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48687980A>T | CA346744370 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1817T>A (p.Val606Asp) c.*129T>A (n.*129T>A) c.3441+16300A>T (n.3441+16300A>T) c.*561T>A (n.*561T>A) c.1736T>A (p.Val579Asp) c.276+16300A>T (n.276+16300A>T) c.*220+6244T>A (n.*220+6244T>A) c.860T>A (p.Val287Asp) c.887T>A (p.Val296Asp) c.1742T>A (p.Val581Asp) c.1556T>A (p.Val519Asp) c.1475T>A (p.Val492Asp) c.1181T>A (p.Val394Asp) c.1562T>A (p.Val521Asp) | |
2 | g.48687981C>A | CA346744373 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1816G>T (p.Val606Phe) c.*128G>T (n.*128G>T) c.3441+16301C>A (n.3441+16301C>A) c.*560G>T (n.*560G>T) c.1735G>T (p.Val579Phe) c.276+16301C>A (n.276+16301C>A) c.*220+6243G>T (n.*220+6243G>T) c.859G>T (p.Val287Phe) c.886G>T (p.Val296Phe) c.1741G>T (p.Val581Phe) c.1555G>T (p.Val519Phe) c.1474G>T (p.Val492Phe) c.1180G>T (p.Val394Phe) c.1561G>T (p.Val521Phe) | |
2 | g.48687981C= | CA1248600933 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1816G= (p.Val606=) c.*128G= (n.*128G=) c.3441+16301C= (n.3441+16301C=) c.*560G= (n.*560G=) c.1735G= (p.Val579=) c.276+16301C= (n.276+16301C=) c.*220+6243G= (n.*220+6243G=) c.859G= (p.Val287=) c.886G= (p.Val296=) c.1741G= (p.Val581=) c.1555G= (p.Val519=) c.1474G= (p.Val492=) c.1180G= (p.Val394=) c.1561G= (p.Val521=) | |
2 | g.48687981C>G | CA346744375 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1816G>C (p.Val606Leu) c.*128G>C (n.*128G>C) c.3441+16301C>G (n.3441+16301C>G) c.*560G>C (n.*560G>C) c.1735G>C (p.Val579Leu) c.276+16301C>G (n.276+16301C>G) c.*220+6243G>C (n.*220+6243G>C) c.859G>C (p.Val287Leu) c.886G>C (p.Val296Leu) c.1741G>C (p.Val581Leu) c.1555G>C (p.Val519Leu) c.1474G>C (p.Val492Leu) c.1180G>C (p.Val394Leu) c.1561G>C (p.Val521Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48687981C>T | CA346744377 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1816G>A (p.Val606Ile) c.*128G>A (n.*128G>A) c.3441+16301C>T (n.3441+16301C>T) c.*560G>A (n.*560G>A) c.1735G>A (p.Val579Ile) c.276+16301C>T (n.276+16301C>T) c.*220+6243G>A (n.*220+6243G>A) c.859G>A (p.Val287Ile) c.886G>A (p.Val296Ile) c.1741G>A (p.Val581Ile) c.1555G>A (p.Val519Ile) c.1474G>A (p.Val492Ile) c.1180G>A (p.Val394Ile) c.1561G>A (p.Val521Ile) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48687982T>A | CA346744379 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1815A>T (p.Lys605Asn) c.*127A>T (n.*127A>T) c.3441+16302T>A (n.3441+16302T>A) c.*559A>T (n.*559A>T) c.1734A>T (p.Lys578Asn) c.276+16302T>A (n.276+16302T>A) c.*220+6242A>T (n.*220+6242A>T) c.858A>T (p.Lys286Asn) c.885A>T (p.Lys295Asn) c.1740A>T (p.Lys580Asn) c.1554A>T (p.Lys518Asn) c.1473A>T (p.Lys491Asn) c.1179A>T (p.Lys393Asn) c.1560A>T (p.Lys520Asn) | |
2 | g.48687982T>C | CA426125667 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1815A>G (p.Lys605=) c.*127A>G (n.*127A>G) c.3441+16302T>C (n.3441+16302T>C) c.*559A>G (n.*559A>G) c.1734A>G (p.Lys578=) c.276+16302T>C (n.276+16302T>C) c.*220+6242A>G (n.*220+6242A>G) c.858A>G (p.Lys286=) c.885A>G (p.Lys295=) c.1740A>G (p.Lys580=) c.1554A>G (p.Lys518=) c.1473A>G (p.Lys491=) c.1179A>G (p.Lys393=) c.1560A>G (p.Lys520=) | |
2 | g.48687982T>G | CA346744382 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1815A>C (p.Lys605Asn) c.*127A>C (n.*127A>C) c.3441+16302T>G (n.3441+16302T>G) c.*559A>C (n.*559A>C) c.1734A>C (p.Lys578Asn) c.276+16302T>G (n.276+16302T>G) c.*220+6242A>C (n.*220+6242A>C) c.858A>C (p.Lys286Asn) c.885A>C (p.Lys295Asn) c.1740A>C (p.Lys580Asn) c.1554A>C (p.Lys518Asn) c.1473A>C (p.Lys491Asn) c.1179A>C (p.Lys393Asn) c.1560A>C (p.Lys520Asn) | COSMIC |
2 | g.48687983T>A | CA346744384 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1814A>T (p.Lys605Ile) c.*126A>T (n.*126A>T) c.3441+16303T>A (n.3441+16303T>A) c.*558A>T (n.*558A>T) c.1733A>T (p.Lys578Ile) c.276+16303T>A (n.276+16303T>A) c.*220+6241A>T (n.*220+6241A>T) c.857A>T (p.Lys286Ile) c.884A>T (p.Lys295Ile) c.1739A>T (p.Lys580Ile) c.1553A>T (p.Lys518Ile) c.1472A>T (p.Lys491Ile) c.1178A>T (p.Lys393Ile) c.1559A>T (p.Lys520Ile) | |
2 | g.48687983T>C | CA346744387 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1814A>G (p.Lys605Arg) c.*126A>G (n.*126A>G) c.3441+16303T>C (n.3441+16303T>C) c.*558A>G (n.*558A>G) c.1733A>G (p.Lys578Arg) c.276+16303T>C (n.276+16303T>C) c.*220+6241A>G (n.*220+6241A>G) c.857A>G (p.Lys286Arg) c.884A>G (p.Lys295Arg) c.1739A>G (p.Lys580Arg) c.1553A>G (p.Lys518Arg) c.1472A>G (p.Lys491Arg) c.1178A>G (p.Lys393Arg) c.1559A>G (p.Lys520Arg) | |
2 | g.48687983T>G | CA346744391 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1814A>C (p.Lys605Thr) c.*126A>C (n.*126A>C) c.3441+16303T>G (n.3441+16303T>G) c.*558A>C (n.*558A>C) c.1733A>C (p.Lys578Thr) c.276+16303T>G (n.276+16303T>G) c.*220+6241A>C (n.*220+6241A>C) c.857A>C (p.Lys286Thr) c.884A>C (p.Lys295Thr) c.1739A>C (p.Lys580Thr) c.1553A>C (p.Lys518Thr) c.1472A>C (p.Lys491Thr) c.1178A>C (p.Lys393Thr) c.1559A>C (p.Lys520Thr) | |
2 | g.48687984T>A | CA346744403 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1813A>T (p.Lys605Ter) c.*125A>T (n.*125A>T) c.3441+16304T>A (n.3441+16304T>A) c.*557A>T (n.*557A>T) c.1732A>T (p.Lys578Ter) c.276+16304T>A (n.276+16304T>A) c.*220+6240A>T (n.*220+6240A>T) c.856A>T (p.Lys286Ter) c.883A>T (p.Lys295Ter) c.1738A>T (p.Lys580Ter) c.1552A>T (p.Lys518Ter) c.1471A>T (p.Lys491Ter) c.1177A>T (p.Lys393Ter) c.1558A>T (p.Lys520Ter) | gnomAD v4 |
2 | g.48687984T>C | CA346744401 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1813A>G (p.Lys605Glu) c.*125A>G (n.*125A>G) c.3441+16304T>C (n.3441+16304T>C) c.*557A>G (n.*557A>G) c.1732A>G (p.Lys578Glu) c.276+16304T>C (n.276+16304T>C) c.*220+6240A>G (n.*220+6240A>G) c.856A>G (p.Lys286Glu) c.883A>G (p.Lys295Glu) c.1738A>G (p.Lys580Glu) c.1552A>G (p.Lys518Glu) c.1471A>G (p.Lys491Glu) c.1177A>G (p.Lys393Glu) c.1558A>G (p.Lys520Glu) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.48687984T>G | CA346744395 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1813A>C (p.Lys605Gln) c.*125A>C (n.*125A>C) c.3441+16304T>G (n.3441+16304T>G) c.*557A>C (n.*557A>C) c.1732A>C (p.Lys578Gln) c.276+16304T>G (n.276+16304T>G) c.*220+6240A>C (n.*220+6240A>C) c.856A>C (p.Lys286Gln) c.883A>C (p.Lys295Gln) c.1738A>C (p.Lys580Gln) c.1552A>C (p.Lys518Gln) c.1471A>C (p.Lys491Gln) c.1177A>C (p.Lys393Gln) c.1558A>C (p.Lys520Gln) | |
2 | g.48687984T= | CA1248600934 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1813A= (p.Lys605=) c.*125A= (n.*125A=) c.3441+16304T= (n.3441+16304T=) c.*557A= (n.*557A=) c.1732A= (p.Lys578=) c.276+16304T= (n.276+16304T=) c.*220+6240A= (n.*220+6240A=) c.856A= (p.Lys286=) c.883A= (p.Lys295=) c.1738A= (p.Lys580=) c.1552A= (p.Lys518=) c.1471A= (p.Lys491=) c.1177A= (p.Lys393=) c.1558A= (p.Lys520=) | |
2 | g.48687985A>C | CA426125680 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1812T>G (p.Ser604=) c.*124T>G (n.*124T>G) c.3441+16305A>C (n.3441+16305A>C) c.*556T>G (n.*556T>G) c.1731T>G (p.Ser577=) c.276+16305A>C (n.276+16305A>C) c.*220+6239T>G (n.*220+6239T>G) c.855T>G (p.Ser285=) c.882T>G (p.Ser294=) c.1737T>G (p.Ser579=) c.1551T>G (p.Ser517=) c.1470T>G (p.Ser490=) c.1176T>G (p.Ser392=) c.1557T>G (p.Ser519=) | |
2 | g.48687985A>G | CA426125681 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1812T>C (p.Ser604=) c.*124T>C (n.*124T>C) c.3441+16305A>G (n.3441+16305A>G) c.*556T>C (n.*556T>C) c.1731T>C (p.Ser577=) c.276+16305A>G (n.276+16305A>G) c.*220+6239T>C (n.*220+6239T>C) c.855T>C (p.Ser285=) c.882T>C (p.Ser294=) c.1737T>C (p.Ser579=) c.1551T>C (p.Ser517=) c.1470T>C (p.Ser490=) c.1176T>C (p.Ser392=) c.1557T>C (p.Ser519=) | |
2 | g.48687985A>T | CA426125682 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1812T>A (p.Ser604=) c.*124T>A (n.*124T>A) c.3441+16305A>T (n.3441+16305A>T) c.*556T>A (n.*556T>A) c.1731T>A (p.Ser577=) c.276+16305A>T (n.276+16305A>T) c.*220+6239T>A (n.*220+6239T>A) c.855T>A (p.Ser285=) c.882T>A (p.Ser294=) c.1737T>A (p.Ser579=) c.1551T>A (p.Ser517=) c.1470T>A (p.Ser490=) c.1176T>A (p.Ser392=) c.1557T>A (p.Ser519=) | |
2 | g.48687986del | CA2576963396 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1811del (p.Ser604LeufsTer?) c.*123del (n.*123del) c.3441+16306del (n.3441+16306del) c.*555del (n.*555del) c.1730del (p.Ser577LeufsTer?) c.276+16306del (n.276+16306del) c.*220+6238del (n.*220+6238del) c.854del (p.Ser285LeufsTer?) c.881del (p.Ser294LeufsTer?) c.1736del (p.Ser579LeufsTer?) c.1550del (p.Ser517LeufsTer?) c.1469del (p.Ser490LeufsTer?) c.1175del (p.Ser392LeufsTer?) c.1556del (p.Ser519LeufsTer?) | |
2 | g.48687986G>A | CA346744405 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1811C>T (p.Ser604Phe) c.*123C>T (n.*123C>T) c.3441+16306G>A (n.3441+16306G>A) c.*555C>T (n.*555C>T) c.1730C>T (p.Ser577Phe) c.276+16306G>A (n.276+16306G>A) c.*220+6238C>T (n.*220+6238C>T) c.854C>T (p.Ser285Phe) c.881C>T (p.Ser294Phe) c.1736C>T (p.Ser579Phe) c.1550C>T (p.Ser517Phe) c.1469C>T (p.Ser490Phe) c.1175C>T (p.Ser392Phe) c.1556C>T (p.Ser519Phe) | gnomAD v4 COSMIC |
2 | g.48687986G>C | CA346744407 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1811C>G (p.Ser604Cys) c.*123C>G (n.*123C>G) c.3441+16306G>C (n.3441+16306G>C) c.*555C>G (n.*555C>G) c.1730C>G (p.Ser577Cys) c.276+16306G>C (n.276+16306G>C) c.*220+6238C>G (n.*220+6238C>G) c.854C>G (p.Ser285Cys) c.881C>G (p.Ser294Cys) c.1736C>G (p.Ser579Cys) c.1550C>G (p.Ser517Cys) c.1469C>G (p.Ser490Cys) c.1175C>G (p.Ser392Cys) c.1556C>G (p.Ser519Cys) | |
2 | g.48687986G>T | CA346744409 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1811C>A (p.Ser604Tyr) c.*123C>A (n.*123C>A) c.3441+16306G>T (n.3441+16306G>T) c.*555C>A (n.*555C>A) c.1730C>A (p.Ser577Tyr) c.276+16306G>T (n.276+16306G>T) c.*220+6238C>A (n.*220+6238C>A) c.854C>A (p.Ser285Tyr) c.881C>A (p.Ser294Tyr) c.1736C>A (p.Ser579Tyr) c.1550C>A (p.Ser517Tyr) c.1469C>A (p.Ser490Tyr) c.1175C>A (p.Ser392Tyr) c.1556C>A (p.Ser519Tyr) | |
2 | g.48687987A= | CA1248600935 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1810T= (p.Ser604=) c.*122T= (n.*122T=) c.3441+16307A= (n.3441+16307A=) c.*554T= (n.*554T=) c.1729T= (p.Ser577=) c.276+16307A= (n.276+16307A=) c.*220+6237T= (n.*220+6237T=) c.853T= (p.Ser285=) c.880T= (p.Ser294=) c.1735T= (p.Ser579=) c.1549T= (p.Ser517=) c.1468T= (p.Ser490=) c.1174T= (p.Ser392=) c.1555T= (p.Ser519=) | |
2 | g.48687987A>C | CA46752716 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1810T>G (p.Ser604Ala) c.*122T>G (n.*122T>G) c.3441+16307A>C (n.3441+16307A>C) c.*554T>G (n.*554T>G) c.1729T>G (p.Ser577Ala) c.276+16307A>C (n.276+16307A>C) c.*220+6237T>G (n.*220+6237T>G) c.853T>G (p.Ser285Ala) c.880T>G (p.Ser294Ala) c.1735T>G (p.Ser579Ala) c.1549T>G (p.Ser517Ala) c.1468T>G (p.Ser490Ala) c.1174T>G (p.Ser392Ala) c.1555T>G (p.Ser519Ala) | dbSNP |
2 | g.48687987A>G | CA346744415 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1810T>C (p.Ser604Pro) c.*122T>C (n.*122T>C) c.3441+16307A>G (n.3441+16307A>G) c.*554T>C (n.*554T>C) c.1729T>C (p.Ser577Pro) c.276+16307A>G (n.276+16307A>G) c.*220+6237T>C (n.*220+6237T>C) c.853T>C (p.Ser285Pro) c.880T>C (p.Ser294Pro) c.1735T>C (p.Ser579Pro) c.1549T>C (p.Ser517Pro) c.1468T>C (p.Ser490Pro) c.1174T>C (p.Ser392Pro) c.1555T>C (p.Ser519Pro) | |
2 | g.48687987A>T | CA346744416 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1810T>A (p.Ser604Thr) c.*122T>A (n.*122T>A) c.3441+16307A>T (n.3441+16307A>T) c.*554T>A (n.*554T>A) c.1729T>A (p.Ser577Thr) c.276+16307A>T (n.276+16307A>T) c.*220+6237T>A (n.*220+6237T>A) c.853T>A (p.Ser285Thr) c.880T>A (p.Ser294Thr) c.1735T>A (p.Ser579Thr) c.1549T>A (p.Ser517Thr) c.1468T>A (p.Ser490Thr) c.1174T>A (p.Ser392Thr) c.1555T>A (p.Ser519Thr) | |
2 | g.48687988G>A | CA426125694 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1809C>T (p.Asn603=) c.*121C>T (n.*121C>T) c.3441+16308G>A (n.3441+16308G>A) c.*553C>T (n.*553C>T) c.1728C>T (p.Asn576=) c.276+16308G>A (n.276+16308G>A) c.*220+6236C>T (n.*220+6236C>T) c.852C>T (p.Asn284=) c.879C>T (p.Asn293=) c.1734C>T (p.Asn578=) c.1548C>T (p.Asn516=) c.1467C>T (p.Asn489=) c.1173C>T (p.Asn391=) c.1554C>T (p.Asn518=) | |
2 | g.48687988G>C | CA346744418 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1809C>G (p.Asn603Lys) c.*121C>G (n.*121C>G) c.3441+16308G>C (n.3441+16308G>C) c.*553C>G (n.*553C>G) c.1728C>G (p.Asn576Lys) c.276+16308G>C (n.276+16308G>C) c.*220+6236C>G (n.*220+6236C>G) c.852C>G (p.Asn284Lys) c.879C>G (p.Asn293Lys) c.1734C>G (p.Asn578Lys) c.1548C>G (p.Asn516Lys) c.1467C>G (p.Asn489Lys) c.1173C>G (p.Asn391Lys) c.1554C>G (p.Asn518Lys) | |
2 | g.48687988G>T | CA346744420 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1809C>A (p.Asn603Lys) c.*121C>A (n.*121C>A) c.3441+16308G>T (n.3441+16308G>T) c.*553C>A (n.*553C>A) c.1728C>A (p.Asn576Lys) c.276+16308G>T (n.276+16308G>T) c.*220+6236C>A (n.*220+6236C>A) c.852C>A (p.Asn284Lys) c.879C>A (p.Asn293Lys) c.1734C>A (p.Asn578Lys) c.1548C>A (p.Asn516Lys) c.1467C>A (p.Asn489Lys) c.1173C>A (p.Asn391Lys) c.1554C>A (p.Asn518Lys) | |
2 | g.48687989T>A | CA346744421 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1808A>T (p.Asn603Ile) c.*120A>T (n.*120A>T) c.3441+16309T>A (n.3441+16309T>A) c.*552A>T (n.*552A>T) c.1727A>T (p.Asn576Ile) c.276+16309T>A (n.276+16309T>A) c.*220+6235A>T (n.*220+6235A>T) c.851A>T (p.Asn284Ile) c.878A>T (p.Asn293Ile) c.1733A>T (p.Asn578Ile) c.1547A>T (p.Asn516Ile) c.1466A>T (p.Asn489Ile) c.1172A>T (p.Asn391Ile) c.1553A>T (p.Asn518Ile) | |
2 | g.48687989T>C | CA346744424 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1808A>G (p.Asn603Ser) c.*120A>G (n.*120A>G) c.3441+16309T>C (n.3441+16309T>C) c.*552A>G (n.*552A>G) c.1727A>G (p.Asn576Ser) c.276+16309T>C (n.276+16309T>C) c.*220+6235A>G (n.*220+6235A>G) c.851A>G (p.Asn284Ser) c.878A>G (p.Asn293Ser) c.1733A>G (p.Asn578Ser) c.1547A>G (p.Asn516Ser) c.1466A>G (p.Asn489Ser) c.1172A>G (p.Asn391Ser) c.1553A>G (p.Asn518Ser) | gnomAD v4 |
2 | g.48687989T>G | CA346744425 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1808A>C (p.Asn603Thr) c.*120A>C (n.*120A>C) c.3441+16309T>G (n.3441+16309T>G) c.*552A>C (n.*552A>C) c.1727A>C (p.Asn576Thr) c.276+16309T>G (n.276+16309T>G) c.*220+6235A>C (n.*220+6235A>C) c.851A>C (p.Asn284Thr) c.878A>C (p.Asn293Thr) c.1733A>C (p.Asn578Thr) c.1547A>C (p.Asn516Thr) c.1466A>C (p.Asn489Thr) c.1172A>C (p.Asn391Thr) c.1553A>C (p.Asn518Thr) | dbSNP |
2 | g.48687989T= | CA1248600936 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1808A= (p.Asn603=) c.*120A= (n.*120A=) c.3441+16309T= (n.3441+16309T=) c.*552A= (n.*552A=) c.1727A= (p.Asn576=) c.276+16309T= (n.276+16309T=) c.*220+6235A= (n.*220+6235A=) c.851A= (p.Asn284=) c.878A= (p.Asn293=) c.1733A= (p.Asn578=) c.1547A= (p.Asn516=) c.1466A= (p.Asn489=) c.1172A= (p.Asn391=) c.1553A= (p.Asn518=) | |
2 | g.48687990T>A | CA346744433 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1807A>T (p.Asn603Tyr) c.*119A>T (n.*119A>T) c.3441+16310T>A (n.3441+16310T>A) c.*551A>T (n.*551A>T) c.1726A>T (p.Asn576Tyr) c.276+16310T>A (n.276+16310T>A) c.*220+6234A>T (n.*220+6234A>T) c.850A>T (p.Asn284Tyr) c.877A>T (p.Asn293Tyr) c.1732A>T (p.Asn578Tyr) c.1546A>T (p.Asn516Tyr) c.1465A>T (p.Asn489Tyr) c.1171A>T (p.Asn391Tyr) c.1552A>T (p.Asn518Tyr) | |
2 | g.48687990T>C | CA346744430 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1807A>G (p.Asn603Asp) c.*119A>G (n.*119A>G) c.3441+16310T>C (n.3441+16310T>C) c.*551A>G (n.*551A>G) c.1726A>G (p.Asn576Asp) c.276+16310T>C (n.276+16310T>C) c.*220+6234A>G (n.*220+6234A>G) c.850A>G (p.Asn284Asp) c.877A>G (p.Asn293Asp) c.1732A>G (p.Asn578Asp) c.1546A>G (p.Asn516Asp) c.1465A>G (p.Asn489Asp) c.1171A>G (p.Asn391Asp) c.1552A>G (p.Asn518Asp) | |
2 | g.48687990T>G | CA346744428 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1807A>C (p.Asn603His) c.*119A>C (n.*119A>C) c.3441+16310T>G (n.3441+16310T>G) c.*551A>C (n.*551A>C) c.1726A>C (p.Asn576His) c.276+16310T>G (n.276+16310T>G) c.*220+6234A>C (n.*220+6234A>C) c.850A>C (p.Asn284His) c.877A>C (p.Asn293His) c.1732A>C (p.Asn578His) c.1546A>C (p.Asn516His) c.1465A>C (p.Asn489His) c.1171A>C (p.Asn391His) c.1552A>C (p.Asn518His) | |
2 | g.48687991G>A | CA426125699 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1806C>T (p.Thr602=) c.*118C>T (n.*118C>T) c.3441+16311G>A (n.3441+16311G>A) c.*550C>T (n.*550C>T) c.1725C>T (p.Thr575=) c.276+16311G>A (n.276+16311G>A) c.*220+6233C>T (n.*220+6233C>T) c.849C>T (p.Thr283=) c.876C>T (p.Thr292=) c.1731C>T (p.Thr577=) c.1545C>T (p.Thr515=) c.1464C>T (p.Thr488=) c.1170C>T (p.Thr390=) c.1551C>T (p.Thr517=) | dbSNP gnomAD v2 |
2 | g.48687991G>C | CA426125700 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1806C>G (p.Thr602=) c.*118C>G (n.*118C>G) c.3441+16311G>C (n.3441+16311G>C) c.*550C>G (n.*550C>G) c.1725C>G (p.Thr575=) c.276+16311G>C (n.276+16311G>C) c.*220+6233C>G (n.*220+6233C>G) c.849C>G (p.Thr283=) c.876C>G (p.Thr292=) c.1731C>G (p.Thr577=) c.1545C>G (p.Thr515=) c.1464C>G (p.Thr488=) c.1170C>G (p.Thr390=) c.1551C>G (p.Thr517=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48687991G= | CA1248600937 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1806C= (p.Thr602=) c.*118C= (n.*118C=) c.3441+16311G= (n.3441+16311G=) c.*550C= (n.*550C=) c.1725C= (p.Thr575=) c.276+16311G= (n.276+16311G=) c.*220+6233C= (n.*220+6233C=) c.849C= (p.Thr283=) c.876C= (p.Thr292=) c.1731C= (p.Thr577=) c.1545C= (p.Thr515=) c.1464C= (p.Thr488=) c.1170C= (p.Thr390=) c.1551C= (p.Thr517=) | |
2 | g.48687991G>T | CA426125701 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1806C>A (p.Thr602=) c.*118C>A (n.*118C>A) c.3441+16311G>T (n.3441+16311G>T) c.*550C>A (n.*550C>A) c.1725C>A (p.Thr575=) c.276+16311G>T (n.276+16311G>T) c.*220+6233C>A (n.*220+6233C>A) c.849C>A (p.Thr283=) c.876C>A (p.Thr292=) c.1731C>A (p.Thr577=) c.1545C>A (p.Thr515=) c.1464C>A (p.Thr488=) c.1170C>A (p.Thr390=) c.1551C>A (p.Thr517=) | dbSNP |
2 | g.48687992G>A | CA1652985 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1805C>T (p.Thr602Ile) c.*117C>T (n.*117C>T) c.3441+16312G>A (n.3441+16312G>A) c.*549C>T (n.*549C>T) c.1724C>T (p.Thr575Ile) c.276+16312G>A (n.276+16312G>A) c.*220+6232C>T (n.*220+6232C>T) c.848C>T (p.Thr283Ile) c.875C>T (p.Thr292Ile) c.1730C>T (p.Thr577Ile) c.1544C>T (p.Thr515Ile) c.1463C>T (p.Thr488Ile) c.1169C>T (p.Thr390Ile) c.1550C>T (p.Thr517Ile) | ClinVar dbSNP ExAC gnomAD v4 |
2 | g.48687992G>C | CA346744435 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1805C>G (p.Thr602Ser) c.*117C>G (n.*117C>G) c.3441+16312G>C (n.3441+16312G>C) c.*549C>G (n.*549C>G) c.1724C>G (p.Thr575Ser) c.276+16312G>C (n.276+16312G>C) c.*220+6232C>G (n.*220+6232C>G) c.848C>G (p.Thr283Ser) c.875C>G (p.Thr292Ser) c.1730C>G (p.Thr577Ser) c.1544C>G (p.Thr515Ser) c.1463C>G (p.Thr488Ser) c.1169C>G (p.Thr390Ser) c.1550C>G (p.Thr517Ser) | |
2 | g.48687992G= | CA1248600938 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1805C= (p.Thr602=) c.*117C= (n.*117C=) c.3441+16312G= (n.3441+16312G=) c.*549C= (n.*549C=) c.1724C= (p.Thr575=) c.276+16312G= (n.276+16312G=) c.*220+6232C= (n.*220+6232C=) c.848C= (p.Thr283=) c.875C= (p.Thr292=) c.1730C= (p.Thr577=) c.1544C= (p.Thr515=) c.1463C= (p.Thr488=) c.1169C= (p.Thr390=) c.1550C= (p.Thr517=) | |
2 | g.48687992G>T | CA346744437 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1805C>A (p.Thr602Asn) c.*117C>A (n.*117C>A) c.3441+16312G>T (n.3441+16312G>T) c.*549C>A (n.*549C>A) c.1724C>A (p.Thr575Asn) c.276+16312G>T (n.276+16312G>T) c.*220+6232C>A (n.*220+6232C>A) c.848C>A (p.Thr283Asn) c.875C>A (p.Thr292Asn) c.1730C>A (p.Thr577Asn) c.1544C>A (p.Thr515Asn) c.1463C>A (p.Thr488Asn) c.1169C>A (p.Thr390Asn) c.1550C>A (p.Thr517Asn) | gnomAD v4 |
2 | g.48687993T>A | CA346744441 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1804A>T (p.Thr602Ser) c.*116A>T (n.*116A>T) c.3441+16313T>A (n.3441+16313T>A) c.*548A>T (n.*548A>T) c.1723A>T (p.Thr575Ser) c.276+16313T>A (n.276+16313T>A) c.*220+6231A>T (n.*220+6231A>T) c.847A>T (p.Thr283Ser) c.874A>T (p.Thr292Ser) c.1729A>T (p.Thr577Ser) c.1543A>T (p.Thr515Ser) c.1462A>T (p.Thr488Ser) c.1168A>T (p.Thr390Ser) c.1549A>T (p.Thr517Ser) | |
2 | g.48687993T>C | CA346744443 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1804A>G (p.Thr602Ala) c.*116A>G (n.*116A>G) c.3441+16313T>C (n.3441+16313T>C) c.*548A>G (n.*548A>G) c.1723A>G (p.Thr575Ala) c.276+16313T>C (n.276+16313T>C) c.*220+6231A>G (n.*220+6231A>G) c.847A>G (p.Thr283Ala) c.874A>G (p.Thr292Ala) c.1729A>G (p.Thr577Ala) c.1543A>G (p.Thr515Ala) c.1462A>G (p.Thr488Ala) c.1168A>G (p.Thr390Ala) c.1549A>G (p.Thr517Ala) | gnomAD v4 |
2 | g.48687993T>G | CA346744445 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1804A>C (p.Thr602Pro) c.*116A>C (n.*116A>C) c.3441+16313T>G (n.3441+16313T>G) c.*548A>C (n.*548A>C) c.1723A>C (p.Thr575Pro) c.276+16313T>G (n.276+16313T>G) c.*220+6231A>C (n.*220+6231A>C) c.847A>C (p.Thr283Pro) c.874A>C (p.Thr292Pro) c.1729A>C (p.Thr577Pro) c.1543A>C (p.Thr515Pro) c.1462A>C (p.Thr488Pro) c.1168A>C (p.Thr390Pro) c.1549A>C (p.Thr517Pro) | |
2 | g.48687994T>A | CA426125708 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1803A>T (p.Val601=) c.*115A>T (n.*115A>T) c.3441+16314T>A (n.3441+16314T>A) c.*547A>T (n.*547A>T) c.1722A>T (p.Val574=) c.276+16314T>A (n.276+16314T>A) c.*220+6230A>T (n.*220+6230A>T) c.846A>T (p.Val282=) c.873A>T (p.Val291=) c.1728A>T (p.Val576=) c.1542A>T (p.Val514=) c.1461A>T (p.Val487=) c.1167A>T (p.Val389=) c.1548A>T (p.Val516=) | |
2 | g.48687994T>C | CA426125709 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1803A>G (p.Val601=) c.*115A>G (n.*115A>G) c.3441+16314T>C (n.3441+16314T>C) c.*547A>G (n.*547A>G) c.1722A>G (p.Val574=) c.276+16314T>C (n.276+16314T>C) c.*220+6230A>G (n.*220+6230A>G) c.846A>G (p.Val282=) c.873A>G (p.Val291=) c.1728A>G (p.Val576=) c.1542A>G (p.Val514=) c.1461A>G (p.Val487=) c.1167A>G (p.Val389=) c.1548A>G (p.Val516=) | |
2 | g.48687994T>G | CA426125712 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1803A>C (p.Val601=) c.*115A>C (n.*115A>C) c.3441+16314T>G (n.3441+16314T>G) c.*547A>C (n.*547A>C) c.1722A>C (p.Val574=) c.276+16314T>G (n.276+16314T>G) c.*220+6230A>C (n.*220+6230A>C) c.846A>C (p.Val282=) c.873A>C (p.Val291=) c.1728A>C (p.Val576=) c.1542A>C (p.Val514=) c.1461A>C (p.Val487=) c.1167A>C (p.Val389=) c.1548A>C (p.Val516=) | |
2 | g.48687995A>C | CA346744446 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1802T>G (p.Val601Gly) c.*114T>G (n.*114T>G) c.3441+16315A>C (n.3441+16315A>C) c.*546T>G (n.*546T>G) c.1721T>G (p.Val574Gly) c.276+16315A>C (n.276+16315A>C) c.*220+6229T>G (n.*220+6229T>G) c.845T>G (p.Val282Gly) c.872T>G (p.Val291Gly) c.1727T>G (p.Val576Gly) c.1541T>G (p.Val514Gly) c.1460T>G (p.Val487Gly) c.1166T>G (p.Val389Gly) c.1547T>G (p.Val516Gly) | |
2 | g.48687995A>G | CA346744447 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1802T>C (p.Val601Ala) c.*114T>C (n.*114T>C) c.3441+16315A>G (n.3441+16315A>G) c.*546T>C (n.*546T>C) c.1721T>C (p.Val574Ala) c.276+16315A>G (n.276+16315A>G) c.*220+6229T>C (n.*220+6229T>C) c.845T>C (p.Val282Ala) c.872T>C (p.Val291Ala) c.1727T>C (p.Val576Ala) c.1541T>C (p.Val514Ala) c.1460T>C (p.Val487Ala) c.1166T>C (p.Val389Ala) c.1547T>C (p.Val516Ala) | |
2 | g.48687995A>T | CA346744448 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1802T>A (p.Val601Glu) c.*114T>A (n.*114T>A) c.3441+16315A>T (n.3441+16315A>T) c.*546T>A (n.*546T>A) c.1721T>A (p.Val574Glu) c.276+16315A>T (n.276+16315A>T) c.*220+6229T>A (n.*220+6229T>A) c.845T>A (p.Val282Glu) c.872T>A (p.Val291Glu) c.1727T>A (p.Val576Glu) c.1541T>A (p.Val514Glu) c.1460T>A (p.Val487Glu) c.1166T>A (p.Val389Glu) c.1547T>A (p.Val516Glu) | COSMIC |
2 | g.48687996C>A | CA346744449 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1801G>T (p.Val601Leu) c.*113G>T (n.*113G>T) c.3441+16316C>A (n.3441+16316C>A) c.*545G>T (n.*545G>T) c.1720G>T (p.Val574Leu) c.276+16316C>A (n.276+16316C>A) c.*220+6228G>T (n.*220+6228G>T) c.844G>T (p.Val282Leu) c.871G>T (p.Val291Leu) c.1726G>T (p.Val576Leu) c.1540G>T (p.Val514Leu) c.1459G>T (p.Val487Leu) c.1165G>T (p.Val389Leu) c.1546G>T (p.Val516Leu) | |
2 | g.48687996C>G | CA346744450 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1801G>C (p.Val601Leu) c.*113G>C (n.*113G>C) c.3441+16316C>G (n.3441+16316C>G) c.*545G>C (n.*545G>C) c.1720G>C (p.Val574Leu) c.276+16316C>G (n.276+16316C>G) c.*220+6228G>C (n.*220+6228G>C) c.844G>C (p.Val282Leu) c.871G>C (p.Val291Leu) c.1726G>C (p.Val576Leu) c.1540G>C (p.Val514Leu) c.1459G>C (p.Val487Leu) c.1165G>C (p.Val389Leu) c.1546G>C (p.Val516Leu) | |
2 | g.48687996C>T | CA346744452 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1801G>A (p.Val601Ile) c.*113G>A (n.*113G>A) c.3441+16316C>T (n.3441+16316C>T) c.*545G>A (n.*545G>A) c.1720G>A (p.Val574Ile) c.276+16316C>T (n.276+16316C>T) c.*220+6228G>A (n.*220+6228G>A) c.844G>A (p.Val282Ile) c.871G>A (p.Val291Ile) c.1726G>A (p.Val576Ile) c.1540G>A (p.Val514Ile) c.1459G>A (p.Val487Ile) c.1165G>A (p.Val389Ile) c.1546G>A (p.Val516Ile) | |
2 | g.48687997T>A | CA426125715 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1800A>T (p.Thr600=) c.*112A>T (n.*112A>T) c.3441+16317T>A (n.3441+16317T>A) c.*544A>T (n.*544A>T) c.1719A>T (p.Thr573=) c.276+16317T>A (n.276+16317T>A) c.*220+6227A>T (n.*220+6227A>T) c.843A>T (p.Thr281=) c.870A>T (p.Thr290=) c.1725A>T (p.Thr575=) c.1539A>T (p.Thr513=) c.1458A>T (p.Thr486=) c.1164A>T (p.Thr388=) c.1545A>T (p.Thr515=) | |
2 | g.48687997T>C | CA426125716 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1800A>G (p.Thr600=) c.*112A>G (n.*112A>G) c.3441+16317T>C (n.3441+16317T>C) c.*544A>G (n.*544A>G) c.1719A>G (p.Thr573=) c.276+16317T>C (n.276+16317T>C) c.*220+6227A>G (n.*220+6227A>G) c.843A>G (p.Thr281=) c.870A>G (p.Thr290=) c.1725A>G (p.Thr575=) c.1539A>G (p.Thr513=) c.1458A>G (p.Thr486=) c.1164A>G (p.Thr388=) c.1545A>G (p.Thr515=) | gnomAD v4 |
2 | g.48687997T>G | CA426125719 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1800A>C (p.Thr600=) c.*112A>C (n.*112A>C) c.3441+16317T>G (n.3441+16317T>G) c.*544A>C (n.*544A>C) c.1719A>C (p.Thr573=) c.276+16317T>G (n.276+16317T>G) c.*220+6227A>C (n.*220+6227A>C) c.843A>C (p.Thr281=) c.870A>C (p.Thr290=) c.1725A>C (p.Thr575=) c.1539A>C (p.Thr513=) c.1458A>C (p.Thr486=) c.1164A>C (p.Thr388=) c.1545A>C (p.Thr515=) | |
2 | g.48687998G>A | CA1652986 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1799C>T (p.Thr600Ile) c.*111C>T (n.*111C>T) c.3441+16318G>A (n.3441+16318G>A) c.*543C>T (n.*543C>T) c.1718C>T (p.Thr573Ile) c.276+16318G>A (n.276+16318G>A) c.*220+6226C>T (n.*220+6226C>T) c.842C>T (p.Thr281Ile) c.869C>T (p.Thr290Ile) c.1724C>T (p.Thr575Ile) c.1538C>T (p.Thr513Ile) c.1457C>T (p.Thr486Ile) c.1163C>T (p.Thr388Ile) c.1544C>T (p.Thr515Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48687998G>C | CA346744455 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1799C>G (p.Thr600Arg) c.*111C>G (n.*111C>G) c.3441+16318G>C (n.3441+16318G>C) c.*543C>G (n.*543C>G) c.1718C>G (p.Thr573Arg) c.276+16318G>C (n.276+16318G>C) c.*220+6226C>G (n.*220+6226C>G) c.842C>G (p.Thr281Arg) c.869C>G (p.Thr290Arg) c.1724C>G (p.Thr575Arg) c.1538C>G (p.Thr513Arg) c.1457C>G (p.Thr486Arg) c.1163C>G (p.Thr388Arg) c.1544C>G (p.Thr515Arg) | |
2 | g.48687998G= | CA1248600939 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1799C= (p.Thr600=) c.*111C= (n.*111C=) c.3441+16318G= (n.3441+16318G=) c.*543C= (n.*543C=) c.1718C= (p.Thr573=) c.276+16318G= (n.276+16318G=) c.*220+6226C= (n.*220+6226C=) c.842C= (p.Thr281=) c.869C= (p.Thr290=) c.1724C= (p.Thr575=) c.1538C= (p.Thr513=) c.1457C= (p.Thr486=) c.1163C= (p.Thr388=) c.1544C= (p.Thr515=) | |
2 | g.48687998G>T | CA346744454 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1799C>A (p.Thr600Lys) c.*111C>A (n.*111C>A) c.3441+16318G>T (n.3441+16318G>T) c.*543C>A (n.*543C>A) c.1718C>A (p.Thr573Lys) c.276+16318G>T (n.276+16318G>T) c.*220+6226C>A (n.*220+6226C>A) c.842C>A (p.Thr281Lys) c.869C>A (p.Thr290Lys) c.1724C>A (p.Thr575Lys) c.1538C>A (p.Thr513Lys) c.1457C>A (p.Thr486Lys) c.1163C>A (p.Thr388Lys) c.1544C>A (p.Thr515Lys) | |
2 | g.48687999T>A | CA346744456 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1798A>T (p.Thr600Ser) c.*110A>T (n.*110A>T) c.3441+16319T>A (n.3441+16319T>A) c.*542A>T (n.*542A>T) c.1717A>T (p.Thr573Ser) c.276+16319T>A (n.276+16319T>A) c.*220+6225A>T (n.*220+6225A>T) c.841A>T (p.Thr281Ser) c.868A>T (p.Thr290Ser) c.1723A>T (p.Thr575Ser) c.1537A>T (p.Thr513Ser) c.1456A>T (p.Thr486Ser) c.1162A>T (p.Thr388Ser) c.1543A>T (p.Thr515Ser) | |
2 | g.48687999T>C | CA346744459 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1798A>G (p.Thr600Ala) c.*110A>G (n.*110A>G) c.3441+16319T>C (n.3441+16319T>C) c.*542A>G (n.*542A>G) c.1717A>G (p.Thr573Ala) c.276+16319T>C (n.276+16319T>C) c.*220+6225A>G (n.*220+6225A>G) c.841A>G (p.Thr281Ala) c.868A>G (p.Thr290Ala) c.1723A>G (p.Thr575Ala) c.1537A>G (p.Thr513Ala) c.1456A>G (p.Thr486Ala) c.1162A>G (p.Thr388Ala) c.1543A>G (p.Thr515Ala) | |
2 | g.48687999T>G | CA346744457 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1798A>C (p.Thr600Pro) c.*110A>C (n.*110A>C) c.3441+16319T>G (n.3441+16319T>G) c.*542A>C (n.*542A>C) c.1717A>C (p.Thr573Pro) c.276+16319T>G (n.276+16319T>G) c.*220+6225A>C (n.*220+6225A>C) c.841A>C (p.Thr281Pro) c.868A>C (p.Thr290Pro) c.1723A>C (p.Thr575Pro) c.1537A>C (p.Thr513Pro) c.1456A>C (p.Thr486Pro) c.1162A>C (p.Thr388Pro) c.1543A>C (p.Thr515Pro) | |
2 | g.48688000G>A | CA426125728 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1797C>T (p.Ile599=) c.*109C>T (n.*109C>T) c.3441+16320G>A (n.3441+16320G>A) c.*541C>T (n.*541C>T) c.1716C>T (p.Ile572=) c.276+16320G>A (n.276+16320G>A) c.*220+6224C>T (n.*220+6224C>T) c.840C>T (p.Ile280=) c.867C>T (p.Ile289=) c.1722C>T (p.Ile574=) c.1536C>T (p.Ile512=) c.1455C>T (p.Ile485=) c.1161C>T (p.Ile387=) c.1542C>T (p.Ile514=) | gnomAD v4 |
2 | g.48688000G>C | CA346744460 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1797C>G (p.Ile599Met) c.*109C>G (n.*109C>G) c.3441+16320G>C (n.3441+16320G>C) c.*541C>G (n.*541C>G) c.1716C>G (p.Ile572Met) c.276+16320G>C (n.276+16320G>C) c.*220+6224C>G (n.*220+6224C>G) c.840C>G (p.Ile280Met) c.867C>G (p.Ile289Met) c.1722C>G (p.Ile574Met) c.1536C>G (p.Ile512Met) c.1455C>G (p.Ile485Met) c.1161C>G (p.Ile387Met) c.1542C>G (p.Ile514Met) | gnomAD v4 |
2 | g.48688000G= | CA1248600940 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1797C= (p.Ile599=) c.*109C= (n.*109C=) c.3441+16320G= (n.3441+16320G=) c.*541C= (n.*541C=) c.1716C= (p.Ile572=) c.276+16320G= (n.276+16320G=) c.*220+6224C= (n.*220+6224C=) c.840C= (p.Ile280=) c.867C= (p.Ile289=) c.1722C= (p.Ile574=) c.1536C= (p.Ile512=) c.1455C= (p.Ile485=) c.1161C= (p.Ile387=) c.1542C= (p.Ile514=) | |
2 | g.48688000G>T | CA1652987 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1797C>A (p.Ile599=) c.*109C>A (n.*109C>A) c.3441+16320G>T (n.3441+16320G>T) c.*541C>A (n.*541C>A) c.1716C>A (p.Ile572=) c.276+16320G>T (n.276+16320G>T) c.*220+6224C>A (n.*220+6224C>A) c.840C>A (p.Ile280=) c.867C>A (p.Ile289=) c.1722C>A (p.Ile574=) c.1536C>A (p.Ile512=) c.1455C>A (p.Ile485=) c.1161C>A (p.Ile387=) c.1542C>A (p.Ile514=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688001A= | CA1248600941 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1796T= (p.Ile599=) c.*108T= (n.*108T=) c.3441+16321A= (n.3441+16321A=) c.*540T= (n.*540T=) c.1715T= (p.Ile572=) c.276+16321A= (n.276+16321A=) c.*220+6223T= (n.*220+6223T=) c.839T= (p.Ile280=) c.866T= (p.Ile289=) c.1721T= (p.Ile574=) c.1535T= (p.Ile512=) c.1454T= (p.Ile485=) c.1160T= (p.Ile387=) c.1541T= (p.Ile514=) | |
2 | g.48688001A>C | CA346744465 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1796T>G (p.Ile599Ser) c.*108T>G (n.*108T>G) c.3441+16321A>C (n.3441+16321A>C) c.*540T>G (n.*540T>G) c.1715T>G (p.Ile572Ser) c.276+16321A>C (n.276+16321A>C) c.*220+6223T>G (n.*220+6223T>G) c.839T>G (p.Ile280Ser) c.866T>G (p.Ile289Ser) c.1721T>G (p.Ile574Ser) c.1535T>G (p.Ile512Ser) c.1454T>G (p.Ile485Ser) c.1160T>G (p.Ile387Ser) c.1541T>G (p.Ile514Ser) | |
2 | g.48688001A>G | CA346744467 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1796T>C (p.Ile599Thr) c.*108T>C (n.*108T>C) c.3441+16321A>G (n.3441+16321A>G) c.*540T>C (n.*540T>C) c.1715T>C (p.Ile572Thr) c.276+16321A>G (n.276+16321A>G) c.*220+6223T>C (n.*220+6223T>C) c.839T>C (p.Ile280Thr) c.866T>C (p.Ile289Thr) c.1721T>C (p.Ile574Thr) c.1535T>C (p.Ile512Thr) c.1454T>C (p.Ile485Thr) c.1160T>C (p.Ile387Thr) c.1541T>C (p.Ile514Thr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48688001A>T | CA1652988 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1796T>A (p.Ile599Asn) c.*108T>A (n.*108T>A) c.3441+16321A>T (n.3441+16321A>T) c.*540T>A (n.*540T>A) c.1715T>A (p.Ile572Asn) c.276+16321A>T (n.276+16321A>T) c.*220+6223T>A (n.*220+6223T>A) c.839T>A (p.Ile280Asn) c.866T>A (p.Ile289Asn) c.1721T>A (p.Ile574Asn) c.1535T>A (p.Ile512Asn) c.1454T>A (p.Ile485Asn) c.1160T>A (p.Ile387Asn) c.1541T>A (p.Ile514Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48688002T>A | CA346744471 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1795A>T (p.Ile599Phe) c.*107A>T (n.*107A>T) c.3441+16322T>A (n.3441+16322T>A) c.*539A>T (n.*539A>T) c.1714A>T (p.Ile572Phe) c.276+16322T>A (n.276+16322T>A) c.*220+6222A>T (n.*220+6222A>T) c.838A>T (p.Ile280Phe) c.865A>T (p.Ile289Phe) c.1720A>T (p.Ile574Phe) c.1534A>T (p.Ile512Phe) c.1453A>T (p.Ile485Phe) c.1159A>T (p.Ile387Phe) c.1540A>T (p.Ile514Phe) | |
2 | g.48688002T>C | CA346744474 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1795A>G (p.Ile599Val) c.*107A>G (n.*107A>G) c.3441+16322T>C (n.3441+16322T>C) c.*539A>G (n.*539A>G) c.1714A>G (p.Ile572Val) c.276+16322T>C (n.276+16322T>C) c.*220+6222A>G (n.*220+6222A>G) c.838A>G (p.Ile280Val) c.865A>G (p.Ile289Val) c.1720A>G (p.Ile574Val) c.1534A>G (p.Ile512Val) c.1453A>G (p.Ile485Val) c.1159A>G (p.Ile387Val) c.1540A>G (p.Ile514Val) | gnomAD v4 |
2 | g.48688002T>G | CA346744481 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1795A>C (p.Ile599Leu) c.*107A>C (n.*107A>C) c.3441+16322T>G (n.3441+16322T>G) c.*539A>C (n.*539A>C) c.1714A>C (p.Ile572Leu) c.276+16322T>G (n.276+16322T>G) c.*220+6222A>C (n.*220+6222A>C) c.838A>C (p.Ile280Leu) c.865A>C (p.Ile289Leu) c.1720A>C (p.Ile574Leu) c.1534A>C (p.Ile512Leu) c.1453A>C (p.Ile485Leu) c.1159A>C (p.Ile387Leu) c.1540A>C (p.Ile514Leu) | |
2 | g.48688003A>C | CA426124883 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1794T>G (p.Leu598=) c.*106T>G (n.*106T>G) c.3441+16323A>C (n.3441+16323A>C) c.*538T>G (n.*538T>G) c.1713T>G (p.Leu571=) c.276+16323A>C (n.276+16323A>C) c.*220+6221T>G (n.*220+6221T>G) c.837T>G (p.Leu279=) c.864T>G (p.Leu288=) c.1719T>G (p.Leu573=) c.1533T>G (p.Leu511=) c.1452T>G (p.Leu484=) c.1158T>G (p.Leu386=) c.1539T>G (p.Leu513=) | |
2 | g.48688003A>G | CA426124885 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1794T>C (p.Leu598=) c.*106T>C (n.*106T>C) c.3441+16323A>G (n.3441+16323A>G) c.*538T>C (n.*538T>C) c.1713T>C (p.Leu571=) c.276+16323A>G (n.276+16323A>G) c.*220+6221T>C (n.*220+6221T>C) c.837T>C (p.Leu279=) c.864T>C (p.Leu288=) c.1719T>C (p.Leu573=) c.1533T>C (p.Leu511=) c.1452T>C (p.Leu484=) c.1158T>C (p.Leu386=) c.1539T>C (p.Leu513=) | |
2 | g.48688003A>T | CA426124884 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1794T>A (p.Leu598=) c.*106T>A (n.*106T>A) c.3441+16323A>T (n.3441+16323A>T) c.*538T>A (n.*538T>A) c.1713T>A (p.Leu571=) c.276+16323A>T (n.276+16323A>T) c.*220+6221T>A (n.*220+6221T>A) c.837T>A (p.Leu279=) c.864T>A (p.Leu288=) c.1719T>A (p.Leu573=) c.1533T>A (p.Leu511=) c.1452T>A (p.Leu484=) c.1158T>A (p.Leu386=) c.1539T>A (p.Leu513=) | |
2 | g.48688004A>C | CA346744487 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1793T>G (p.Leu598Arg) c.*105T>G (n.*105T>G) c.3441+16324A>C (n.3441+16324A>C) c.*537T>G (n.*537T>G) c.1712T>G (p.Leu571Arg) c.276+16324A>C (n.276+16324A>C) c.*220+6220T>G (n.*220+6220T>G) c.836T>G (p.Leu279Arg) c.863T>G (p.Leu288Arg) c.1718T>G (p.Leu573Arg) c.1532T>G (p.Leu511Arg) c.1451T>G (p.Leu484Arg) c.1157T>G (p.Leu386Arg) c.1538T>G (p.Leu513Arg) | |
2 | g.48688004A>G | CA346744490 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1793T>C (p.Leu598Pro) c.*105T>C (n.*105T>C) c.3441+16324A>G (n.3441+16324A>G) c.*537T>C (n.*537T>C) c.1712T>C (p.Leu571Pro) c.276+16324A>G (n.276+16324A>G) c.*220+6220T>C (n.*220+6220T>C) c.836T>C (p.Leu279Pro) c.863T>C (p.Leu288Pro) c.1718T>C (p.Leu573Pro) c.1532T>C (p.Leu511Pro) c.1451T>C (p.Leu484Pro) c.1157T>C (p.Leu386Pro) c.1538T>C (p.Leu513Pro) | |
2 | g.48688004A>T | CA346744492 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1793T>A (p.Leu598His) c.*105T>A (n.*105T>A) c.3441+16324A>T (n.3441+16324A>T) c.*537T>A (n.*537T>A) c.1712T>A (p.Leu571His) c.276+16324A>T (n.276+16324A>T) c.*220+6220T>A (n.*220+6220T>A) c.836T>A (p.Leu279His) c.863T>A (p.Leu288His) c.1718T>A (p.Leu573His) c.1532T>A (p.Leu511His) c.1451T>A (p.Leu484His) c.1157T>A (p.Leu386His) c.1538T>A (p.Leu513His) |