Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.48687827G>A | CA346743476 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1970C>T (p.Ser657Leu) c.*282C>T (n.*282C>T) c.3441+16147G>A (n.3441+16147G>A) c.*714C>T (n.*714C>T) c.1889C>T (p.Ser630Leu) c.276+16147G>A (n.276+16147G>A) c.*220+6397C>T (n.*220+6397C>T) c.1013C>T (p.Ser338Leu) c.1040C>T (p.Ser347Leu) c.1895C>T (p.Ser632Leu) c.1709C>T (p.Ser570Leu) c.1628C>T (p.Ser543Leu) c.1334C>T (p.Ser445Leu) c.1715C>T (p.Ser572Leu) | |
2 | g.48687827G>C | CA346743478 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1970C>G (p.Ser657Ter) c.*282C>G (n.*282C>G) c.3441+16147G>C (n.3441+16147G>C) c.*714C>G (n.*714C>G) c.1889C>G (p.Ser630Ter) c.276+16147G>C (n.276+16147G>C) c.*220+6397C>G (n.*220+6397C>G) c.1013C>G (p.Ser338Ter) c.1040C>G (p.Ser347Ter) c.1895C>G (p.Ser632Ter) c.1709C>G (p.Ser570Ter) c.1628C>G (p.Ser543Ter) c.1334C>G (p.Ser445Ter) c.1715C>G (p.Ser572Ter) | |
2 | g.48687827G>T | CA346743479 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1970C>A (p.Ser657Ter) c.*282C>A (n.*282C>A) c.3441+16147G>T (n.3441+16147G>T) c.*714C>A (n.*714C>A) c.1889C>A (p.Ser630Ter) c.276+16147G>T (n.276+16147G>T) c.*220+6397C>A (n.*220+6397C>A) c.1013C>A (p.Ser338Ter) c.1040C>A (p.Ser347Ter) c.1895C>A (p.Ser632Ter) c.1709C>A (p.Ser570Ter) c.1628C>A (p.Ser543Ter) c.1334C>A (p.Ser445Ter) c.1715C>A (p.Ser572Ter) | |
2 | g.48687828A= | CA1248600857 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1969T= (p.Ser657=) c.*281T= (n.*281T=) c.3441+16148A= (n.3441+16148A=) c.*713T= (n.*713T=) c.1888T= (p.Ser630=) c.276+16148A= (n.276+16148A=) c.*220+6396T= (n.*220+6396T=) c.1012T= (p.Ser338=) c.1039T= (p.Ser347=) c.1894T= (p.Ser632=) c.1708T= (p.Ser570=) c.1627T= (p.Ser543=) c.1333T= (p.Ser445=) c.1714T= (p.Ser572=) | |
2 | g.48687828A>C | CA346743482 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1969T>G (p.Ser657Ala) c.*281T>G (n.*281T>G) c.3441+16148A>C (n.3441+16148A>C) c.*713T>G (n.*713T>G) c.1888T>G (p.Ser630Ala) c.276+16148A>C (n.276+16148A>C) c.*220+6396T>G (n.*220+6396T>G) c.1012T>G (p.Ser338Ala) c.1039T>G (p.Ser347Ala) c.1894T>G (p.Ser632Ala) c.1708T>G (p.Ser570Ala) c.1627T>G (p.Ser543Ala) c.1333T>G (p.Ser445Ala) c.1714T>G (p.Ser572Ala) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48687828A>G | CA346743483 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1969T>C (p.Ser657Pro) c.*281T>C (n.*281T>C) c.3441+16148A>G (n.3441+16148A>G) c.*713T>C (n.*713T>C) c.1888T>C (p.Ser630Pro) c.276+16148A>G (n.276+16148A>G) c.*220+6396T>C (n.*220+6396T>C) c.1012T>C (p.Ser338Pro) c.1039T>C (p.Ser347Pro) c.1894T>C (p.Ser632Pro) c.1708T>C (p.Ser570Pro) c.1627T>C (p.Ser543Pro) c.1333T>C (p.Ser445Pro) c.1714T>C (p.Ser572Pro) | |
2 | g.48687828A>T | CA346743484 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1969T>A (p.Ser657Thr) c.*281T>A (n.*281T>A) c.3441+16148A>T (n.3441+16148A>T) c.*713T>A (n.*713T>A) c.1888T>A (p.Ser630Thr) c.276+16148A>T (n.276+16148A>T) c.*220+6396T>A (n.*220+6396T>A) c.1012T>A (p.Ser338Thr) c.1039T>A (p.Ser347Thr) c.1894T>A (p.Ser632Thr) c.1708T>A (p.Ser570Thr) c.1627T>A (p.Ser543Thr) c.1333T>A (p.Ser445Thr) c.1714T>A (p.Ser572Thr) | |
2 | g.48687829A>C | CA346743485 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1968T>G (p.Phe656Leu) c.*280T>G (n.*280T>G) c.3441+16149A>C (n.3441+16149A>C) c.*712T>G (n.*712T>G) c.1887T>G (p.Phe629Leu) c.276+16149A>C (n.276+16149A>C) c.*220+6395T>G (n.*220+6395T>G) c.1011T>G (p.Phe337Leu) c.1038T>G (p.Phe346Leu) c.1893T>G (p.Phe631Leu) c.1707T>G (p.Phe569Leu) c.1626T>G (p.Phe542Leu) c.1332T>G (p.Phe444Leu) c.1713T>G (p.Phe571Leu) | |
2 | g.48687829A>G | CA426125126 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1968T>C (p.Phe656=) c.*280T>C (n.*280T>C) c.3441+16149A>G (n.3441+16149A>G) c.*712T>C (n.*712T>C) c.1887T>C (p.Phe629=) c.276+16149A>G (n.276+16149A>G) c.*220+6395T>C (n.*220+6395T>C) c.1011T>C (p.Phe337=) c.1038T>C (p.Phe346=) c.1893T>C (p.Phe631=) c.1707T>C (p.Phe569=) c.1626T>C (p.Phe542=) c.1332T>C (p.Phe444=) c.1713T>C (p.Phe571=) | |
2 | g.48687829A>T | CA346743486 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1968T>A (p.Phe656Leu) c.*280T>A (n.*280T>A) c.3441+16149A>T (n.3441+16149A>T) c.*712T>A (n.*712T>A) c.1887T>A (p.Phe629Leu) c.276+16149A>T (n.276+16149A>T) c.*220+6395T>A (n.*220+6395T>A) c.1011T>A (p.Phe337Leu) c.1038T>A (p.Phe346Leu) c.1893T>A (p.Phe631Leu) c.1707T>A (p.Phe569Leu) c.1626T>A (p.Phe542Leu) c.1332T>A (p.Phe444Leu) c.1713T>A (p.Phe571Leu) | |
2 | g.48687830A= | CA1248600858 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1967T= (p.Phe656=) c.*279T= (n.*279T=) c.3441+16150A= (n.3441+16150A=) c.*711T= (n.*711T=) c.1886T= (p.Phe629=) c.276+16150A= (n.276+16150A=) c.*220+6394T= (n.*220+6394T=) c.1010T= (p.Phe337=) c.1037T= (p.Phe346=) c.1892T= (p.Phe631=) c.1706T= (p.Phe569=) c.1625T= (p.Phe542=) c.1331T= (p.Phe444=) c.1712T= (p.Phe571=) | |
2 | g.48687830A>C | CA346743491 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1967T>G (p.Phe656Cys) c.*279T>G (n.*279T>G) c.3441+16150A>C (n.3441+16150A>C) c.*711T>G (n.*711T>G) c.1886T>G (p.Phe629Cys) c.276+16150A>C (n.276+16150A>C) c.*220+6394T>G (n.*220+6394T>G) c.1010T>G (p.Phe337Cys) c.1037T>G (p.Phe346Cys) c.1892T>G (p.Phe631Cys) c.1706T>G (p.Phe569Cys) c.1625T>G (p.Phe542Cys) c.1331T>G (p.Phe444Cys) c.1712T>G (p.Phe571Cys) | |
2 | g.48687830A>G | CA1652957 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1967T>C (p.Phe656Ser) c.*279T>C (n.*279T>C) c.3441+16150A>G (n.3441+16150A>G) c.*711T>C (n.*711T>C) c.1886T>C (p.Phe629Ser) c.276+16150A>G (n.276+16150A>G) c.*220+6394T>C (n.*220+6394T>C) c.1010T>C (p.Phe337Ser) c.1037T>C (p.Phe346Ser) c.1892T>C (p.Phe631Ser) c.1706T>C (p.Phe569Ser) c.1625T>C (p.Phe542Ser) c.1331T>C (p.Phe444Ser) c.1712T>C (p.Phe571Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48687830A>T | CA346743490 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1967T>A (p.Phe656Tyr) c.*279T>A (n.*279T>A) c.3441+16150A>T (n.3441+16150A>T) c.*711T>A (n.*711T>A) c.1886T>A (p.Phe629Tyr) c.276+16150A>T (n.276+16150A>T) c.*220+6394T>A (n.*220+6394T>A) c.1010T>A (p.Phe337Tyr) c.1037T>A (p.Phe346Tyr) c.1892T>A (p.Phe631Tyr) c.1706T>A (p.Phe569Tyr) c.1625T>A (p.Phe542Tyr) c.1331T>A (p.Phe444Tyr) c.1712T>A (p.Phe571Tyr) | |
2 | g.48687831A>C | CA346743497 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1966T>G (p.Phe656Val) c.*278T>G (n.*278T>G) c.3441+16151A>C (n.3441+16151A>C) c.*710T>G (n.*710T>G) c.1885T>G (p.Phe629Val) c.276+16151A>C (n.276+16151A>C) c.*220+6393T>G (n.*220+6393T>G) c.1009T>G (p.Phe337Val) c.1036T>G (p.Phe346Val) c.1891T>G (p.Phe631Val) c.1705T>G (p.Phe569Val) c.1624T>G (p.Phe542Val) c.1330T>G (p.Phe444Val) c.1711T>G (p.Phe571Val) | |
2 | g.48687831A>G | CA346743499 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1966T>C (p.Phe656Leu) c.*278T>C (n.*278T>C) c.3441+16151A>G (n.3441+16151A>G) c.*710T>C (n.*710T>C) c.1885T>C (p.Phe629Leu) c.276+16151A>G (n.276+16151A>G) c.*220+6393T>C (n.*220+6393T>C) c.1009T>C (p.Phe337Leu) c.1036T>C (p.Phe346Leu) c.1891T>C (p.Phe631Leu) c.1705T>C (p.Phe569Leu) c.1624T>C (p.Phe542Leu) c.1330T>C (p.Phe444Leu) c.1711T>C (p.Phe571Leu) | |
2 | g.48687831A>T | CA346743502 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1966T>A (p.Phe656Ile) c.*278T>A (n.*278T>A) c.3441+16151A>T (n.3441+16151A>T) c.*710T>A (n.*710T>A) c.1885T>A (p.Phe629Ile) c.276+16151A>T (n.276+16151A>T) c.*220+6393T>A (n.*220+6393T>A) c.1009T>A (p.Phe337Ile) c.1036T>A (p.Phe346Ile) c.1891T>A (p.Phe631Ile) c.1705T>A (p.Phe569Ile) c.1624T>A (p.Phe542Ile) c.1330T>A (p.Phe444Ile) c.1711T>A (p.Phe571Ile) | |
2 | g.48687832A>C | CA346743505 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1965T>G (p.Asp655Glu) c.*277T>G (n.*277T>G) c.3441+16152A>C (n.3441+16152A>C) c.*709T>G (n.*709T>G) c.1884T>G (p.Asp628Glu) c.276+16152A>C (n.276+16152A>C) c.*220+6392T>G (n.*220+6392T>G) c.1008T>G (p.Asp336Glu) c.1035T>G (p.Asp345Glu) c.1890T>G (p.Asp630Glu) c.1704T>G (p.Asp568Glu) c.1623T>G (p.Asp541Glu) c.1329T>G (p.Asp443Glu) c.1710T>G (p.Asp570Glu) | |
2 | g.48687832A>G | CA426125131 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1965T>C (p.Asp655=) c.*277T>C (n.*277T>C) c.3441+16152A>G (n.3441+16152A>G) c.*709T>C (n.*709T>C) c.1884T>C (p.Asp628=) c.276+16152A>G (n.276+16152A>G) c.*220+6392T>C (n.*220+6392T>C) c.1008T>C (p.Asp336=) c.1035T>C (p.Asp345=) c.1890T>C (p.Asp630=) c.1704T>C (p.Asp568=) c.1623T>C (p.Asp541=) c.1329T>C (p.Asp443=) c.1710T>C (p.Asp570=) | |
2 | g.48687832A>T | CA346743511 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1965T>A (p.Asp655Glu) c.*277T>A (n.*277T>A) c.3441+16152A>T (n.3441+16152A>T) c.*709T>A (n.*709T>A) c.1884T>A (p.Asp628Glu) c.276+16152A>T (n.276+16152A>T) c.*220+6392T>A (n.*220+6392T>A) c.1008T>A (p.Asp336Glu) c.1035T>A (p.Asp345Glu) c.1890T>A (p.Asp630Glu) c.1704T>A (p.Asp568Glu) c.1623T>A (p.Asp541Glu) c.1329T>A (p.Asp443Glu) c.1710T>A (p.Asp570Glu) | |
2 | g.48687833T>A | CA346743514 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1964A>T (p.Asp655Val) c.*276A>T (n.*276A>T) c.3441+16153T>A (n.3441+16153T>A) c.*708A>T (n.*708A>T) c.1883A>T (p.Asp628Val) c.276+16153T>A (n.276+16153T>A) c.*220+6391A>T (n.*220+6391A>T) c.1007A>T (p.Asp336Val) c.1034A>T (p.Asp345Val) c.1889A>T (p.Asp630Val) c.1703A>T (p.Asp568Val) c.1622A>T (p.Asp541Val) c.1328A>T (p.Asp443Val) c.1709A>T (p.Asp570Val) | |
2 | g.48687833T>C | CA346743517 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1964A>G (p.Asp655Gly) c.*276A>G (n.*276A>G) c.3441+16153T>C (n.3441+16153T>C) c.*708A>G (n.*708A>G) c.1883A>G (p.Asp628Gly) c.276+16153T>C (n.276+16153T>C) c.*220+6391A>G (n.*220+6391A>G) c.1007A>G (p.Asp336Gly) c.1034A>G (p.Asp345Gly) c.1889A>G (p.Asp630Gly) c.1703A>G (p.Asp568Gly) c.1622A>G (p.Asp541Gly) c.1328A>G (p.Asp443Gly) c.1709A>G (p.Asp570Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48687833T>G | CA346743518 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1964A>C (p.Asp655Ala) c.*276A>C (n.*276A>C) c.3441+16153T>G (n.3441+16153T>G) c.*708A>C (n.*708A>C) c.1883A>C (p.Asp628Ala) c.276+16153T>G (n.276+16153T>G) c.*220+6391A>C (n.*220+6391A>C) c.1007A>C (p.Asp336Ala) c.1034A>C (p.Asp345Ala) c.1889A>C (p.Asp630Ala) c.1703A>C (p.Asp568Ala) c.1622A>C (p.Asp541Ala) c.1328A>C (p.Asp443Ala) c.1709A>C (p.Asp570Ala) | |
2 | g.48687833T= | CA1248600859 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1964A= (p.Asp655=) c.*276A= (n.*276A=) c.3441+16153T= (n.3441+16153T=) c.*708A= (n.*708A=) c.1883A= (p.Asp628=) c.276+16153T= (n.276+16153T=) c.*220+6391A= (n.*220+6391A=) c.1007A= (p.Asp336=) c.1034A= (p.Asp345=) c.1889A= (p.Asp630=) c.1703A= (p.Asp568=) c.1622A= (p.Asp541=) c.1328A= (p.Asp443=) c.1709A= (p.Asp570=) | |
2 | g.48687834C>A | CA346743521 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1963G>T (p.Asp655Tyr) c.*275G>T (n.*275G>T) c.3441+16154C>A (n.3441+16154C>A) c.*707G>T (n.*707G>T) c.1882G>T (p.Asp628Tyr) c.276+16154C>A (n.276+16154C>A) c.*220+6390G>T (n.*220+6390G>T) c.1006G>T (p.Asp336Tyr) c.1033G>T (p.Asp345Tyr) c.1888G>T (p.Asp630Tyr) c.1702G>T (p.Asp568Tyr) c.1621G>T (p.Asp541Tyr) c.1327G>T (p.Asp443Tyr) c.1708G>T (p.Asp570Tyr) | gnomAD v4 COSMIC |
2 | g.48687834C= | CA1248600860 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1963G= (p.Asp655=) c.*275G= (n.*275G=) c.3441+16154C= (n.3441+16154C=) c.*707G= (n.*707G=) c.1882G= (p.Asp628=) c.276+16154C= (n.276+16154C=) c.*220+6390G= (n.*220+6390G=) c.1006G= (p.Asp336=) c.1033G= (p.Asp345=) c.1888G= (p.Asp630=) c.1702G= (p.Asp568=) c.1621G= (p.Asp541=) c.1327G= (p.Asp443=) c.1708G= (p.Asp570=) | |
2 | g.48687834C>G | CA346743523 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1963G>C (p.Asp655His) c.*275G>C (n.*275G>C) c.3441+16154C>G (n.3441+16154C>G) c.*707G>C (n.*707G>C) c.1882G>C (p.Asp628His) c.276+16154C>G (n.276+16154C>G) c.*220+6390G>C (n.*220+6390G>C) c.1006G>C (p.Asp336His) c.1033G>C (p.Asp345His) c.1888G>C (p.Asp630His) c.1702G>C (p.Asp568His) c.1621G>C (p.Asp541His) c.1327G>C (p.Asp443His) c.1708G>C (p.Asp570His) | dbSNP gnomAD v4 |
2 | g.48687834C>T | CA346743526 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1963G>A (p.Asp655Asn) c.*275G>A (n.*275G>A) c.3441+16154C>T (n.3441+16154C>T) c.*707G>A (n.*707G>A) c.1882G>A (p.Asp628Asn) c.276+16154C>T (n.276+16154C>T) c.*220+6390G>A (n.*220+6390G>A) c.1006G>A (p.Asp336Asn) c.1033G>A (p.Asp345Asn) c.1888G>A (p.Asp630Asn) c.1702G>A (p.Asp568Asn) c.1621G>A (p.Asp541Asn) c.1327G>A (p.Asp443Asn) c.1708G>A (p.Asp570Asn) | |
2 | g.48687835T>A | CA1652958 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1962A>T (p.Lys654Asn) c.*274A>T (n.*274A>T) c.3441+16155T>A (n.3441+16155T>A) c.*706A>T (n.*706A>T) c.1881A>T (p.Lys627Asn) c.276+16155T>A (n.276+16155T>A) c.*220+6389A>T (n.*220+6389A>T) c.1005A>T (p.Lys335Asn) c.1032A>T (p.Lys344Asn) c.1887A>T (p.Lys629Asn) c.1701A>T (p.Lys567Asn) c.1620A>T (p.Lys540Asn) c.1326A>T (p.Lys442Asn) c.1707A>T (p.Lys569Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48687835T>C | CA426125134 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1962A>G (p.Lys654=) c.*274A>G (n.*274A>G) c.3441+16155T>C (n.3441+16155T>C) c.*706A>G (n.*706A>G) c.1881A>G (p.Lys627=) c.276+16155T>C (n.276+16155T>C) c.*220+6389A>G (n.*220+6389A>G) c.1005A>G (p.Lys335=) c.1032A>G (p.Lys344=) c.1887A>G (p.Lys629=) c.1701A>G (p.Lys567=) c.1620A>G (p.Lys540=) c.1326A>G (p.Lys442=) c.1707A>G (p.Lys569=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48687835T>G | CA346743527 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1962A>C (p.Lys654Asn) c.*274A>C (n.*274A>C) c.3441+16155T>G (n.3441+16155T>G) c.*706A>C (n.*706A>C) c.1881A>C (p.Lys627Asn) c.276+16155T>G (n.276+16155T>G) c.*220+6389A>C (n.*220+6389A>C) c.1005A>C (p.Lys335Asn) c.1032A>C (p.Lys344Asn) c.1887A>C (p.Lys629Asn) c.1701A>C (p.Lys567Asn) c.1620A>C (p.Lys540Asn) c.1326A>C (p.Lys442Asn) c.1707A>C (p.Lys569Asn) | |
2 | g.48687835T= | CA1248600861 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1962A= (p.Lys654=) c.*274A= (n.*274A=) c.3441+16155T= (n.3441+16155T=) c.*706A= (n.*706A=) c.1881A= (p.Lys627=) c.276+16155T= (n.276+16155T=) c.*220+6389A= (n.*220+6389A=) c.1005A= (p.Lys335=) c.1032A= (p.Lys344=) c.1887A= (p.Lys629=) c.1701A= (p.Lys567=) c.1620A= (p.Lys540=) c.1326A= (p.Lys442=) c.1707A= (p.Lys569=) | |
2 | g.48687836T>A | CA346743533 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1961A>T (p.Lys654Ile) c.*273A>T (n.*273A>T) c.3441+16156T>A (n.3441+16156T>A) c.*705A>T (n.*705A>T) c.1880A>T (p.Lys627Ile) c.276+16156T>A (n.276+16156T>A) c.*220+6388A>T (n.*220+6388A>T) c.1004A>T (p.Lys335Ile) c.1031A>T (p.Lys344Ile) c.1886A>T (p.Lys629Ile) c.1700A>T (p.Lys567Ile) c.1619A>T (p.Lys540Ile) c.1325A>T (p.Lys442Ile) c.1706A>T (p.Lys569Ile) | |
2 | g.48687836T>C | CA346743537 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1961A>G (p.Lys654Arg) c.*273A>G (n.*273A>G) c.3441+16156T>C (n.3441+16156T>C) c.*705A>G (n.*705A>G) c.1880A>G (p.Lys627Arg) c.276+16156T>C (n.276+16156T>C) c.*220+6388A>G (n.*220+6388A>G) c.1004A>G (p.Lys335Arg) c.1031A>G (p.Lys344Arg) c.1886A>G (p.Lys629Arg) c.1700A>G (p.Lys567Arg) c.1619A>G (p.Lys540Arg) c.1325A>G (p.Lys442Arg) c.1706A>G (p.Lys569Arg) | |
2 | g.48687836T>G | CA346743534 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1961A>C (p.Lys654Thr) c.*273A>C (n.*273A>C) c.3441+16156T>G (n.3441+16156T>G) c.*705A>C (n.*705A>C) c.1880A>C (p.Lys627Thr) c.276+16156T>G (n.276+16156T>G) c.*220+6388A>C (n.*220+6388A>C) c.1004A>C (p.Lys335Thr) c.1031A>C (p.Lys344Thr) c.1886A>C (p.Lys629Thr) c.1700A>C (p.Lys567Thr) c.1619A>C (p.Lys540Thr) c.1325A>C (p.Lys442Thr) c.1706A>C (p.Lys569Thr) | |
2 | g.48687837T>A | CA346743541 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1960A>T (p.Lys654Ter) c.*272A>T (n.*272A>T) c.3441+16157T>A (n.3441+16157T>A) c.*704A>T (n.*704A>T) c.1879A>T (p.Lys627Ter) c.276+16157T>A (n.276+16157T>A) c.*220+6387A>T (n.*220+6387A>T) c.1003A>T (p.Lys335Ter) c.1030A>T (p.Lys344Ter) c.1885A>T (p.Lys629Ter) c.1699A>T (p.Lys567Ter) c.1618A>T (p.Lys540Ter) c.1324A>T (p.Lys442Ter) c.1705A>T (p.Lys569Ter) | |
2 | g.48687837T>C | CA346743543 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1960A>G (p.Lys654Glu) c.*272A>G (n.*272A>G) c.3441+16157T>C (n.3441+16157T>C) c.*704A>G (n.*704A>G) c.1879A>G (p.Lys627Glu) c.276+16157T>C (n.276+16157T>C) c.*220+6387A>G (n.*220+6387A>G) c.1003A>G (p.Lys335Glu) c.1030A>G (p.Lys344Glu) c.1885A>G (p.Lys629Glu) c.1699A>G (p.Lys567Glu) c.1618A>G (p.Lys540Glu) c.1324A>G (p.Lys442Glu) c.1705A>G (p.Lys569Glu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48687837T>G | CA346743545 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1960A>C (p.Lys654Gln) c.*272A>C (n.*272A>C) c.3441+16157T>G (n.3441+16157T>G) c.*704A>C (n.*704A>C) c.1879A>C (p.Lys627Gln) c.276+16157T>G (n.276+16157T>G) c.*220+6387A>C (n.*220+6387A>C) c.1003A>C (p.Lys335Gln) c.1030A>C (p.Lys344Gln) c.1885A>C (p.Lys629Gln) c.1699A>C (p.Lys567Gln) c.1618A>C (p.Lys540Gln) c.1324A>C (p.Lys442Gln) c.1705A>C (p.Lys569Gln) | |
2 | g.48687837T= | CA1248600862 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1960A= (p.Lys654=) c.*272A= (n.*272A=) c.3441+16157T= (n.3441+16157T=) c.*704A= (n.*704A=) c.1879A= (p.Lys627=) c.276+16157T= (n.276+16157T=) c.*220+6387A= (n.*220+6387A=) c.1003A= (p.Lys335=) c.1030A= (p.Lys344=) c.1885A= (p.Lys629=) c.1699A= (p.Lys567=) c.1618A= (p.Lys540=) c.1324A= (p.Lys442=) c.1705A= (p.Lys569=) | |
2 | g.48687838C>A | CA346743548 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1959G>T (p.Arg653Ser) c.*271G>T (n.*271G>T) c.3441+16158C>A (n.3441+16158C>A) c.*703G>T (n.*703G>T) c.1878G>T (p.Arg626Ser) c.276+16158C>A (n.276+16158C>A) c.*220+6386G>T (n.*220+6386G>T) c.1002G>T (p.Arg334Ser) c.1029G>T (p.Arg343Ser) c.1884G>T (p.Arg628Ser) c.1698G>T (p.Arg566Ser) c.1617G>T (p.Arg539Ser) c.1323G>T (p.Arg441Ser) c.1704G>T (p.Arg568Ser) | |
2 | g.48687838C>G | CA346743549 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1959G>C (p.Arg653Ser) c.*271G>C (n.*271G>C) c.3441+16158C>G (n.3441+16158C>G) c.*703G>C (n.*703G>C) c.1878G>C (p.Arg626Ser) c.276+16158C>G (n.276+16158C>G) c.*220+6386G>C (n.*220+6386G>C) c.1002G>C (p.Arg334Ser) c.1029G>C (p.Arg343Ser) c.1884G>C (p.Arg628Ser) c.1698G>C (p.Arg566Ser) c.1617G>C (p.Arg539Ser) c.1323G>C (p.Arg441Ser) c.1704G>C (p.Arg568Ser) | gnomAD v4 |
2 | g.48687838C>T | CA426125140 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1959G>A (p.Arg653=) c.*271G>A (n.*271G>A) c.3441+16158C>T (n.3441+16158C>T) c.*703G>A (n.*703G>A) c.1878G>A (p.Arg626=) c.276+16158C>T (n.276+16158C>T) c.*220+6386G>A (n.*220+6386G>A) c.1002G>A (p.Arg334=) c.1029G>A (p.Arg343=) c.1884G>A (p.Arg628=) c.1698G>A (p.Arg566=) c.1617G>A (p.Arg539=) c.1323G>A (p.Arg441=) c.1704G>A (p.Arg568=) | |
2 | g.48687839C>A | CA346743552 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1958G>T (p.Arg653Met) c.*270G>T (n.*270G>T) c.3441+16159C>A (n.3441+16159C>A) c.*702G>T (n.*702G>T) c.1877G>T (p.Arg626Met) c.276+16159C>A (n.276+16159C>A) c.*220+6385G>T (n.*220+6385G>T) c.1001G>T (p.Arg334Met) c.1028G>T (p.Arg343Met) c.1883G>T (p.Arg628Met) c.1697G>T (p.Arg566Met) c.1616G>T (p.Arg539Met) c.1322G>T (p.Arg441Met) c.1703G>T (p.Arg568Met) | |
2 | g.48687839C>G | CA346743554 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1958G>C (p.Arg653Thr) c.*270G>C (n.*270G>C) c.3441+16159C>G (n.3441+16159C>G) c.*702G>C (n.*702G>C) c.1877G>C (p.Arg626Thr) c.276+16159C>G (n.276+16159C>G) c.*220+6385G>C (n.*220+6385G>C) c.1001G>C (p.Arg334Thr) c.1028G>C (p.Arg343Thr) c.1883G>C (p.Arg628Thr) c.1697G>C (p.Arg566Thr) c.1616G>C (p.Arg539Thr) c.1322G>C (p.Arg441Thr) c.1703G>C (p.Arg568Thr) | |
2 | g.48687839C>T | CA346743556 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1958G>A (p.Arg653Lys) c.*270G>A (n.*270G>A) c.3441+16159C>T (n.3441+16159C>T) c.*702G>A (n.*702G>A) c.1877G>A (p.Arg626Lys) c.276+16159C>T (n.276+16159C>T) c.*220+6385G>A (n.*220+6385G>A) c.1001G>A (p.Arg334Lys) c.1028G>A (p.Arg343Lys) c.1883G>A (p.Arg628Lys) c.1697G>A (p.Arg566Lys) c.1616G>A (p.Arg539Lys) c.1322G>A (p.Arg441Lys) c.1703G>A (p.Arg568Lys) | gnomAD v4 |
2 | g.48687839_48687840delinsCT | CA1248600863 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1957_1958delinsAG (p.Arg653=) c.*269_*270delinsAG (n.*269_*270delinsAG) c.3441+16159_3441+16160delinsCT (n.3441+16159_3441+16160delinsCT) c.*701_*702delinsAG (n.*701_*702delinsAG) c.1876_1877delinsAG (p.Arg626=) c.276+16159_276+16160delinsCT (n.276+16159_276+16160delinsCT) c.*220+6384_*220+6385delinsAG (n.*220+6384_*220+6385delinsAG) c.1000_1001delinsAG (p.Arg334=) c.1027_1028delinsAG (p.Arg343=) c.1882_1883delinsAG (p.Arg628=) c.1696_1697delinsAG (p.Arg566=) c.1615_1616delinsAG (p.Arg539=) c.1321_1322delinsAG (p.Arg441=) c.1702_1703delinsAG (p.Arg568=) | |
2 | g.48687840T>A | CA346743559 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1957A>T (p.Arg653Trp) c.*269A>T (n.*269A>T) c.3441+16160T>A (n.3441+16160T>A) c.*701A>T (n.*701A>T) c.1876A>T (p.Arg626Trp) c.276+16160T>A (n.276+16160T>A) c.*220+6384A>T (n.*220+6384A>T) c.1000A>T (p.Arg334Trp) c.1027A>T (p.Arg343Trp) c.1882A>T (p.Arg628Trp) c.1696A>T (p.Arg566Trp) c.1615A>T (p.Arg539Trp) c.1321A>T (p.Arg441Trp) c.1702A>T (p.Arg568Trp) | |
2 | g.48687840T>C | CA346743560 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1957A>G (p.Arg653Gly) c.*269A>G (n.*269A>G) c.3441+16160T>C (n.3441+16160T>C) c.*701A>G (n.*701A>G) c.1876A>G (p.Arg626Gly) c.276+16160T>C (n.276+16160T>C) c.*220+6384A>G (n.*220+6384A>G) c.1000A>G (p.Arg334Gly) c.1027A>G (p.Arg343Gly) c.1882A>G (p.Arg628Gly) c.1696A>G (p.Arg566Gly) c.1615A>G (p.Arg539Gly) c.1321A>G (p.Arg441Gly) c.1702A>G (p.Arg568Gly) | |
2 | g.48687840T>G | CA426125143 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1957A>C (p.Arg653=) c.*269A>C (n.*269A>C) c.3441+16160T>G (n.3441+16160T>G) c.*701A>C (n.*701A>C) c.1876A>C (p.Arg626=) c.276+16160T>G (n.276+16160T>G) c.*220+6384A>C (n.*220+6384A>C) c.1000A>C (p.Arg334=) c.1027A>C (p.Arg343=) c.1882A>C (p.Arg628=) c.1696A>C (p.Arg566=) c.1615A>C (p.Arg539=) c.1321A>C (p.Arg441=) c.1702A>C (p.Arg568=) | |
2 | g.48687841del | CA1248600864 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1957del (p.Arg653GlyfsTer26) c.*269del (n.*269del) c.3441+16161del (n.3441+16161del) c.*701del (n.*701del) c.1876del (p.Arg626GlyfsTer26) c.276+16161del (n.276+16161del) c.*220+6384del (n.*220+6384del) c.1000del (p.Arg334GlyfsTer26) c.1027del (p.Arg343GlyfsTer26) c.1882del (p.Arg628GlyfsTer26) c.1696del (p.Arg566GlyfsTer26) c.1615del (p.Arg539GlyfsTer26) c.1321del (p.Arg441GlyfsTer26) c.1702del (p.Arg568GlyfsTer26) | dbSNP |