Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.68158136C>A | CA381588523 | KMT5B | c.1997G>T (p.Gly666Val) n.2562G>T c.*1834G>T (n.*1834G>T) c.*1877G>T (n.*1877G>T) c.1694G>T (p.Gly565Val) c.*1418G>T (n.*1418G>T) c.2210G>T (p.Gly737Val) c.1490G>T (p.Gly497Val) c.2141G>T (p.Gly714Val) c.968G>T (p.Gly323Val) | |
11 | g.68158136C>G | CA381588519 | KMT5B | c.1997G>C (p.Gly666Ala) n.2562G>C c.*1834G>C (n.*1834G>C) c.*1877G>C (n.*1877G>C) c.1694G>C (p.Gly565Ala) c.*1418G>C (n.*1418G>C) c.2210G>C (p.Gly737Ala) c.1490G>C (p.Gly497Ala) c.2141G>C (p.Gly714Ala) c.968G>C (p.Gly323Ala) | |
11 | g.68158136C>T | CA381588521 | KMT5B | c.1997G>A (p.Gly666Glu) n.2562G>A c.*1834G>A (n.*1834G>A) c.*1877G>A (n.*1877G>A) c.1694G>A (p.Gly565Glu) c.*1418G>A (n.*1418G>A) c.2210G>A (p.Gly737Glu) c.1490G>A (p.Gly497Glu) c.2141G>A (p.Gly714Glu) c.968G>A (p.Gly323Glu) | |
11 | g.68158137C>A | CA381588525 | KMT5B | c.1996G>T (p.Gly666Ter) n.2561G>T c.*1833G>T (n.*1833G>T) c.*1876G>T (n.*1876G>T) c.1693G>T (p.Gly565Ter) c.*1417G>T (n.*1417G>T) c.2209G>T (p.Gly737Ter) c.1489G>T (p.Gly497Ter) c.2140G>T (p.Gly714Ter) c.967G>T (p.Gly323Ter) | |
11 | g.68158137C>G | CA381588527 | KMT5B | c.1996G>C (p.Gly666Arg) n.2561G>C c.*1833G>C (n.*1833G>C) c.*1876G>C (n.*1876G>C) c.1693G>C (p.Gly565Arg) c.*1417G>C (n.*1417G>C) c.2209G>C (p.Gly737Arg) c.1489G>C (p.Gly497Arg) c.2140G>C (p.Gly714Arg) c.967G>C (p.Gly323Arg) | |
11 | g.68158137C>T | CA381588529 | KMT5B | c.1996G>A (p.Gly666Arg) n.2561G>A c.*1833G>A (n.*1833G>A) c.*1876G>A (n.*1876G>A) c.1693G>A (p.Gly565Arg) c.*1417G>A (n.*1417G>A) c.2209G>A (p.Gly737Arg) c.1489G>A (p.Gly497Arg) c.2140G>A (p.Gly714Arg) c.967G>A (p.Gly323Arg) | COSMIC COSMIC |
11 | g.68158138A>C | CA381588531 | KMT5B | c.1995T>G (p.Asp665Glu) n.2560T>G c.*1832T>G (n.*1832T>G) c.*1875T>G (n.*1875T>G) c.1692T>G (p.Asp564Glu) c.*1416T>G (n.*1416T>G) c.2208T>G (p.Asp736Glu) c.1488T>G (p.Asp496Glu) c.2139T>G (p.Asp713Glu) c.966T>G (p.Asp322Glu) | |
11 | g.68158138A>G | CA475514972 | KMT5B | c.1995T>C (p.Asp665=) n.2560T>C c.*1832T>C (n.*1832T>C) c.*1875T>C (n.*1875T>C) c.1692T>C (p.Asp564=) c.*1416T>C (n.*1416T>C) c.2208T>C (p.Asp736=) c.1488T>C (p.Asp496=) c.2139T>C (p.Asp713=) c.966T>C (p.Asp322=) | |
11 | g.68158138A>T | CA381588533 | KMT5B | c.1995T>A (p.Asp665Glu) n.2560T>A c.*1832T>A (n.*1832T>A) c.*1875T>A (n.*1875T>A) c.1692T>A (p.Asp564Glu) c.*1416T>A (n.*1416T>A) c.2208T>A (p.Asp736Glu) c.1488T>A (p.Asp496Glu) c.2139T>A (p.Asp713Glu) c.966T>A (p.Asp322Glu) | |
11 | g.68158139T>A | CA381588536 | KMT5B | c.1994A>T (p.Asp665Val) n.2559A>T c.*1831A>T (n.*1831A>T) c.*1874A>T (n.*1874A>T) c.1691A>T (p.Asp564Val) c.*1415A>T (n.*1415A>T) c.2207A>T (p.Asp736Val) c.1487A>T (p.Asp496Val) c.2138A>T (p.Asp713Val) c.965A>T (p.Asp322Val) | |
11 | g.68158139T>C | CA381588537 | KMT5B | c.1994A>G (p.Asp665Gly) n.2559A>G c.*1831A>G (n.*1831A>G) c.*1874A>G (n.*1874A>G) c.1691A>G (p.Asp564Gly) c.*1415A>G (n.*1415A>G) c.2207A>G (p.Asp736Gly) c.1487A>G (p.Asp496Gly) c.2138A>G (p.Asp713Gly) c.965A>G (p.Asp322Gly) | gnomAD v4 |
11 | g.68158139T>G | CA381588539 | KMT5B | c.1994A>C (p.Asp665Ala) n.2559A>C c.*1831A>C (n.*1831A>C) c.*1874A>C (n.*1874A>C) c.1691A>C (p.Asp564Ala) c.*1415A>C (n.*1415A>C) c.2207A>C (p.Asp736Ala) c.1487A>C (p.Asp496Ala) c.2138A>C (p.Asp713Ala) c.965A>C (p.Asp322Ala) | |
11 | g.68158140C>A | CA381588542 | KMT5B | c.1993G>T (p.Asp665Tyr) n.2558G>T c.*1830G>T (n.*1830G>T) c.*1873G>T (n.*1873G>T) c.1690G>T (p.Asp564Tyr) c.*1414G>T (n.*1414G>T) c.2206G>T (p.Asp736Tyr) c.1486G>T (p.Asp496Tyr) c.2137G>T (p.Asp713Tyr) c.964G>T (p.Asp322Tyr) | gnomAD v4 |
11 | g.68158140C>G | CA381588543 | KMT5B | c.1993G>C (p.Asp665His) n.2558G>C c.*1830G>C (n.*1830G>C) c.*1873G>C (n.*1873G>C) c.1690G>C (p.Asp564His) c.*1414G>C (n.*1414G>C) c.2206G>C (p.Asp736His) c.1486G>C (p.Asp496His) c.2137G>C (p.Asp713His) c.964G>C (p.Asp322His) | |
11 | g.68158140C>T | CA381588544 | KMT5B | c.1993G>A (p.Asp665Asn) n.2558G>A c.*1830G>A (n.*1830G>A) c.*1873G>A (n.*1873G>A) c.1690G>A (p.Asp564Asn) c.*1414G>A (n.*1414G>A) c.2206G>A (p.Asp736Asn) c.1486G>A (p.Asp496Asn) c.2137G>A (p.Asp713Asn) c.964G>A (p.Asp322Asn) | |
11 | g.68158141A>C | CA381588548 | KMT5B | c.1992T>G (p.Asn664Lys) n.2557T>G c.*1829T>G (n.*1829T>G) c.*1872T>G (n.*1872T>G) c.1689T>G (p.Asn563Lys) c.*1413T>G (n.*1413T>G) c.2205T>G (p.Asn735Lys) c.1485T>G (p.Asn495Lys) c.2136T>G (p.Asn712Lys) c.963T>G (p.Asn321Lys) | |
11 | g.68158141A>G | CA475514976 | KMT5B | c.1992T>C (p.Asn664=) n.2557T>C c.*1829T>C (n.*1829T>C) c.*1872T>C (n.*1872T>C) c.1689T>C (p.Asn563=) c.*1413T>C (n.*1413T>C) c.2205T>C (p.Asn735=) c.1485T>C (p.Asn495=) c.2136T>C (p.Asn712=) c.963T>C (p.Asn321=) | |
11 | g.68158141A>T | CA381588546 | KMT5B | c.1992T>A (p.Asn664Lys) n.2557T>A c.*1829T>A (n.*1829T>A) c.*1872T>A (n.*1872T>A) c.1689T>A (p.Asn563Lys) c.*1413T>A (n.*1413T>A) c.2205T>A (p.Asn735Lys) c.1485T>A (p.Asn495Lys) c.2136T>A (p.Asn712Lys) c.963T>A (p.Asn321Lys) | |
11 | g.68158142T>A | CA381588550 | KMT5B | c.1991A>T (p.Asn664Ile) n.2556A>T c.*1828A>T (n.*1828A>T) c.*1871A>T (n.*1871A>T) c.1688A>T (p.Asn563Ile) c.*1412A>T (n.*1412A>T) c.2204A>T (p.Asn735Ile) c.1484A>T (p.Asn495Ile) c.2135A>T (p.Asn712Ile) c.962A>T (p.Asn321Ile) | |
11 | g.68158142T>C | CA381588552 | KMT5B | c.1991A>G (p.Asn664Ser) n.2556A>G c.*1828A>G (n.*1828A>G) c.*1871A>G (n.*1871A>G) c.1688A>G (p.Asn563Ser) c.*1412A>G (n.*1412A>G) c.2204A>G (p.Asn735Ser) c.1484A>G (p.Asn495Ser) c.2135A>G (p.Asn712Ser) c.962A>G (p.Asn321Ser) | gnomAD v4 |
11 | g.68158142T>G | CA381588554 | KMT5B | c.1991A>C (p.Asn664Thr) n.2556A>C c.*1828A>C (n.*1828A>C) c.*1871A>C (n.*1871A>C) c.1688A>C (p.Asn563Thr) c.*1412A>C (n.*1412A>C) c.2204A>C (p.Asn735Thr) c.1484A>C (p.Asn495Thr) c.2135A>C (p.Asn712Thr) c.962A>C (p.Asn321Thr) | gnomAD v4 |
11 | g.68158143T>A | CA381588555 | KMT5B | c.1990A>T (p.Asn664Tyr) n.2555A>T c.*1827A>T (n.*1827A>T) c.*1870A>T (n.*1870A>T) c.1687A>T (p.Asn563Tyr) c.*1411A>T (n.*1411A>T) c.2203A>T (p.Asn735Tyr) c.1483A>T (p.Asn495Tyr) c.2134A>T (p.Asn712Tyr) c.961A>T (p.Asn321Tyr) | |
11 | g.68158143T>C | CA381588556 | KMT5B | c.1990A>G (p.Asn664Asp) n.2555A>G c.*1827A>G (n.*1827A>G) c.*1870A>G (n.*1870A>G) c.1687A>G (p.Asn563Asp) c.*1411A>G (n.*1411A>G) c.2203A>G (p.Asn735Asp) c.1483A>G (p.Asn495Asp) c.2134A>G (p.Asn712Asp) c.961A>G (p.Asn321Asp) | |
11 | g.68158143T>G | CA381588557 | KMT5B | c.1990A>C (p.Asn664His) n.2555A>C c.*1827A>C (n.*1827A>C) c.*1870A>C (n.*1870A>C) c.1687A>C (p.Asn563His) c.*1411A>C (n.*1411A>C) c.2203A>C (p.Asn735His) c.1483A>C (p.Asn495His) c.2134A>C (p.Asn712His) c.961A>C (p.Asn321His) | |
11 | g.68158144C>A | CA381588558 | KMT5B | c.1989G>T (p.Glu663Asp) n.2554G>T c.*1826G>T (n.*1826G>T) c.*1869G>T (n.*1869G>T) c.1686G>T (p.Glu562Asp) c.*1410G>T (n.*1410G>T) c.2202G>T (p.Glu734Asp) c.1482G>T (p.Glu494Asp) c.2133G>T (p.Glu711Asp) c.960G>T (p.Glu320Asp) | |
11 | g.68158144C>G | CA381588559 | KMT5B | c.1989G>C (p.Glu663Asp) n.2554G>C c.*1826G>C (n.*1826G>C) c.*1869G>C (n.*1869G>C) c.1686G>C (p.Glu562Asp) c.*1410G>C (n.*1410G>C) c.2202G>C (p.Glu734Asp) c.1482G>C (p.Glu494Asp) c.2133G>C (p.Glu711Asp) c.960G>C (p.Glu320Asp) | |
11 | g.68158144C>T | CA475514981 | KMT5B | c.1989G>A (p.Glu663=) n.2554G>A c.*1826G>A (n.*1826G>A) c.*1869G>A (n.*1869G>A) c.1686G>A (p.Glu562=) c.*1410G>A (n.*1410G>A) c.2202G>A (p.Glu734=) c.1482G>A (p.Glu494=) c.2133G>A (p.Glu711=) c.960G>A (p.Glu320=) | |
11 | g.68158145T>A | CA381588560 | KMT5B | c.1988A>T (p.Glu663Val) n.2553A>T c.*1825A>T (n.*1825A>T) c.*1868A>T (n.*1868A>T) c.1685A>T (p.Glu562Val) c.*1409A>T (n.*1409A>T) c.2201A>T (p.Glu734Val) c.1481A>T (p.Glu494Val) c.2132A>T (p.Glu711Val) c.959A>T (p.Glu320Val) | |
11 | g.68158145T>C | CA381588561 | KMT5B | c.1988A>G (p.Glu663Gly) n.2553A>G c.*1825A>G (n.*1825A>G) c.*1868A>G (n.*1868A>G) c.1685A>G (p.Glu562Gly) c.*1409A>G (n.*1409A>G) c.2201A>G (p.Glu734Gly) c.1481A>G (p.Glu494Gly) c.2132A>G (p.Glu711Gly) c.959A>G (p.Glu320Gly) | |
11 | g.68158145T>G | CA381588562 | KMT5B | c.1988A>C (p.Glu663Ala) n.2553A>C c.*1825A>C (n.*1825A>C) c.*1868A>C (n.*1868A>C) c.1685A>C (p.Glu562Ala) c.*1409A>C (n.*1409A>C) c.2201A>C (p.Glu734Ala) c.1481A>C (p.Glu494Ala) c.2132A>C (p.Glu711Ala) c.959A>C (p.Glu320Ala) | |
11 | g.68158146C>A | CA381588563 | KMT5B | c.1987G>T (p.Glu663Ter) n.2552G>T c.*1824G>T (n.*1824G>T) c.*1867G>T (n.*1867G>T) c.1684G>T (p.Glu562Ter) c.*1408G>T (n.*1408G>T) c.2200G>T (p.Glu734Ter) c.1480G>T (p.Glu494Ter) c.2131G>T (p.Glu711Ter) c.958G>T (p.Glu320Ter) | |
11 | g.68158146C= | CA1980500596 | KMT5B | c.1987G= (p.Glu663=) n.2552G= c.*1824G= (n.*1824G=) c.*1867G= (n.*1867G=) c.1684G= (p.Glu562=) c.*1408G= (n.*1408G=) c.2200G= (p.Glu734=) c.1480G= (p.Glu494=) c.2131G= (p.Glu711=) c.958G= (p.Glu320=) | |
11 | g.68158146C>G | CA6148040 | KMT5B | c.1987G>C (p.Glu663Gln) n.2552G>C c.*1824G>C (n.*1824G>C) c.*1867G>C (n.*1867G>C) c.1684G>C (p.Glu562Gln) c.*1408G>C (n.*1408G>C) c.2200G>C (p.Glu734Gln) c.1480G>C (p.Glu494Gln) c.2131G>C (p.Glu711Gln) c.958G>C (p.Glu320Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68158146C>T | CA381588564 | KMT5B | c.1987G>A (p.Glu663Lys) n.2552G>A c.*1824G>A (n.*1824G>A) c.*1867G>A (n.*1867G>A) c.1684G>A (p.Glu562Lys) c.*1408G>A (n.*1408G>A) c.2200G>A (p.Glu734Lys) c.1480G>A (p.Glu494Lys) c.2131G>A (p.Glu711Lys) c.958G>A (p.Glu320Lys) | |
11 | g.68158147T>A | CA381588566 | KMT5B | c.1986A>T (p.Gln662His) n.2551A>T c.*1823A>T (n.*1823A>T) c.*1866A>T (n.*1866A>T) c.1683A>T (p.Gln561His) c.*1407A>T (n.*1407A>T) c.2199A>T (p.Gln733His) c.1479A>T (p.Gln493His) c.2130A>T (p.Gln710His) c.957A>T (p.Gln319His) | |
11 | g.68158147T>C | CA224248231 | KMT5B | c.1986A>G (p.Gln662=) n.2551A>G c.*1823A>G (n.*1823A>G) c.*1866A>G (n.*1866A>G) c.1683A>G (p.Gln561=) c.*1407A>G (n.*1407A>G) c.2199A>G (p.Gln733=) c.1479A>G (p.Gln493=) c.2130A>G (p.Gln710=) c.957A>G (p.Gln319=) | dbSNP |
11 | g.68158147T>G | CA381588565 | KMT5B | c.1986A>C (p.Gln662His) n.2551A>C c.*1823A>C (n.*1823A>C) c.*1866A>C (n.*1866A>C) c.1683A>C (p.Gln561His) c.*1407A>C (n.*1407A>C) c.2199A>C (p.Gln733His) c.1479A>C (p.Gln493His) c.2130A>C (p.Gln710His) c.957A>C (p.Gln319His) | |
11 | g.68158147T= | CA1980500599 | KMT5B | c.1986A= (p.Gln662=) n.2551A= c.*1823A= (n.*1823A=) c.*1866A= (n.*1866A=) c.1683A= (p.Gln561=) c.*1407A= (n.*1407A=) c.2199A= (p.Gln733=) c.1479A= (p.Gln493=) c.2130A= (p.Gln710=) c.957A= (p.Gln319=) | |
11 | g.68158148T>A | CA381588567 | KMT5B | c.1985A>T (p.Gln662Leu) n.2550A>T c.*1822A>T (n.*1822A>T) c.*1865A>T (n.*1865A>T) c.1682A>T (p.Gln561Leu) c.*1406A>T (n.*1406A>T) c.2198A>T (p.Gln733Leu) c.1478A>T (p.Gln493Leu) c.2129A>T (p.Gln710Leu) c.956A>T (p.Gln319Leu) | |
11 | g.68158148T>C | CA381588568 | KMT5B | c.1985A>G (p.Gln662Arg) n.2550A>G c.*1822A>G (n.*1822A>G) c.*1865A>G (n.*1865A>G) c.1682A>G (p.Gln561Arg) c.*1406A>G (n.*1406A>G) c.2198A>G (p.Gln733Arg) c.1478A>G (p.Gln493Arg) c.2129A>G (p.Gln710Arg) c.956A>G (p.Gln319Arg) | |
11 | g.68158148T>G | CA381588569 | KMT5B | c.1985A>C (p.Gln662Pro) n.2550A>C c.*1822A>C (n.*1822A>C) c.*1865A>C (n.*1865A>C) c.1682A>C (p.Gln561Pro) c.*1406A>C (n.*1406A>C) c.2198A>C (p.Gln733Pro) c.1478A>C (p.Gln493Pro) c.2129A>C (p.Gln710Pro) c.956A>C (p.Gln319Pro) | |
11 | g.68158149G>A | CA381588570 | KMT5B | c.1984C>T (p.Gln662Ter) n.2549C>T c.*1821C>T (n.*1821C>T) c.*1864C>T (n.*1864C>T) c.1681C>T (p.Gln561Ter) c.*1405C>T (n.*1405C>T) c.2197C>T (p.Gln733Ter) c.1477C>T (p.Gln493Ter) c.2128C>T (p.Gln710Ter) c.955C>T (p.Gln319Ter) | |
11 | g.68158149G>C | CA381588571 | KMT5B | c.1984C>G (p.Gln662Glu) n.2549C>G c.*1821C>G (n.*1821C>G) c.*1864C>G (n.*1864C>G) c.1681C>G (p.Gln561Glu) c.*1405C>G (n.*1405C>G) c.2197C>G (p.Gln733Glu) c.1477C>G (p.Gln493Glu) c.2128C>G (p.Gln710Glu) c.955C>G (p.Gln319Glu) | |
11 | g.68158149G>T | CA381588572 | KMT5B | c.1984C>A (p.Gln662Lys) n.2549C>A c.*1821C>A (n.*1821C>A) c.*1864C>A (n.*1864C>A) c.1681C>A (p.Gln561Lys) c.*1405C>A (n.*1405C>A) c.2197C>A (p.Gln733Lys) c.1477C>A (p.Gln493Lys) c.2128C>A (p.Gln710Lys) c.955C>A (p.Gln319Lys) | |
11 | g.68158150G>A | CA475514987 | KMT5B | c.1983C>T (p.Asp661=) n.2548C>T c.*1820C>T (n.*1820C>T) c.*1863C>T (n.*1863C>T) c.1680C>T (p.Asp560=) c.*1404C>T (n.*1404C>T) c.2196C>T (p.Asp732=) c.1476C>T (p.Asp492=) c.2127C>T (p.Asp709=) c.954C>T (p.Asp318=) | |
11 | g.68158150G>C | CA381588573 | KMT5B | c.1983C>G (p.Asp661Glu) n.2548C>G c.*1820C>G (n.*1820C>G) c.*1863C>G (n.*1863C>G) c.1680C>G (p.Asp560Glu) c.*1404C>G (n.*1404C>G) c.2196C>G (p.Asp732Glu) c.1476C>G (p.Asp492Glu) c.2127C>G (p.Asp709Glu) c.954C>G (p.Asp318Glu) | |
11 | g.68158150G>T | CA381588574 | KMT5B | c.1983C>A (p.Asp661Glu) n.2548C>A c.*1820C>A (n.*1820C>A) c.*1863C>A (n.*1863C>A) c.1680C>A (p.Asp560Glu) c.*1404C>A (n.*1404C>A) c.2196C>A (p.Asp732Glu) c.1476C>A (p.Asp492Glu) c.2127C>A (p.Asp709Glu) c.954C>A (p.Asp318Glu) | |
11 | g.68158150_68158151insAGTCTCGAA | CA2741184562 | KMT5B | c.1982_1983insTTCGAGACT (p.Asp661_Gln662insSerArgLeu) n.2547_2548insTTCGAGACT c.*1819_*1820insTTCGAGACT (n.*1819_*1820insTTCGAGACT) c.*1862_*1863insTTCGAGACT (n.*1862_*1863insTTCGAGACT) c.1679_1680insTTCGAGACT (p.Asp560_Gln561insSerArgLeu) c.*1403_*1404insTTCGAGACT (n.*1403_*1404insTTCGAGACT) c.2195_2196insTTCGAGACT (p.Asp732_Gln733insSerArgLeu) c.1475_1476insTTCGAGACT (p.Asp492_Gln493insSerArgLeu) c.2126_2127insTTCGAGACT (p.Asp709_Gln710insSerArgLeu) c.953_954insTTCGAGACT (p.Asp318_Gln319insSerArgLeu) | |
11 | g.68158151T>A | CA381588575 | KMT5B | c.1982A>T (p.Asp661Val) n.2547A>T c.*1819A>T (n.*1819A>T) c.*1862A>T (n.*1862A>T) c.1679A>T (p.Asp560Val) c.*1403A>T (n.*1403A>T) c.2195A>T (p.Asp732Val) c.1475A>T (p.Asp492Val) c.2126A>T (p.Asp709Val) c.953A>T (p.Asp318Val) | |
11 | g.68158151T>C | CA381588576 | KMT5B | c.1982A>G (p.Asp661Gly) n.2547A>G c.*1819A>G (n.*1819A>G) c.*1862A>G (n.*1862A>G) c.1679A>G (p.Asp560Gly) c.*1403A>G (n.*1403A>G) c.2195A>G (p.Asp732Gly) c.1475A>G (p.Asp492Gly) c.2126A>G (p.Asp709Gly) c.953A>G (p.Asp318Gly) | |
11 | g.68158151T>G | CA381588577 | KMT5B | c.1982A>C (p.Asp661Ala) n.2547A>C c.*1819A>C (n.*1819A>C) c.*1862A>C (n.*1862A>C) c.1679A>C (p.Asp560Ala) c.*1403A>C (n.*1403A>C) c.2195A>C (p.Asp732Ala) c.1475A>C (p.Asp492Ala) c.2126A>C (p.Asp709Ala) c.953A>C (p.Asp318Ala) | |
11 | g.68158152C>A | CA381588578 | KMT5B | c.1981G>T (p.Asp661Tyr) n.2546G>T c.*1818G>T (n.*1818G>T) c.*1861G>T (n.*1861G>T) c.1678G>T (p.Asp560Tyr) c.*1402G>T (n.*1402G>T) c.2194G>T (p.Asp732Tyr) c.1474G>T (p.Asp492Tyr) c.2125G>T (p.Asp709Tyr) c.952G>T (p.Asp318Tyr) | gnomAD v4 |
11 | g.68158152C>G | CA381588579 | KMT5B | c.1981G>C (p.Asp661His) n.2546G>C c.*1818G>C (n.*1818G>C) c.*1861G>C (n.*1861G>C) c.1678G>C (p.Asp560His) c.*1402G>C (n.*1402G>C) c.2194G>C (p.Asp732His) c.1474G>C (p.Asp492His) c.2125G>C (p.Asp709His) c.952G>C (p.Asp318His) | |
11 | g.68158152C>T | CA381588580 | KMT5B | c.1981G>A (p.Asp661Asn) n.2546G>A c.*1818G>A (n.*1818G>A) c.*1861G>A (n.*1861G>A) c.1678G>A (p.Asp560Asn) c.*1402G>A (n.*1402G>A) c.2194G>A (p.Asp732Asn) c.1474G>A (p.Asp492Asn) c.2125G>A (p.Asp709Asn) c.952G>A (p.Asp318Asn) | |
11 | g.68158153A>C | CA381588581 | KMT5B | c.1980T>G (p.Asn660Lys) n.2545T>G c.*1817T>G (n.*1817T>G) c.*1860T>G (n.*1860T>G) c.1677T>G (p.Asn559Lys) c.*1401T>G (n.*1401T>G) c.2193T>G (p.Asn731Lys) c.1473T>G (p.Asn491Lys) c.2124T>G (p.Asn708Lys) c.951T>G (p.Asn317Lys) | |
11 | g.68158153A>G | CA475514992 | KMT5B | c.1980T>C (p.Asn660=) n.2545T>C c.*1817T>C (n.*1817T>C) c.*1860T>C (n.*1860T>C) c.1677T>C (p.Asn559=) c.*1401T>C (n.*1401T>C) c.2193T>C (p.Asn731=) c.1473T>C (p.Asn491=) c.2124T>C (p.Asn708=) c.951T>C (p.Asn317=) | COSMIC COSMIC |
11 | g.68158153A>T | CA381588582 | KMT5B | c.1980T>A (p.Asn660Lys) n.2545T>A c.*1817T>A (n.*1817T>A) c.*1860T>A (n.*1860T>A) c.1677T>A (p.Asn559Lys) c.*1401T>A (n.*1401T>A) c.2193T>A (p.Asn731Lys) c.1473T>A (p.Asn491Lys) c.2124T>A (p.Asn708Lys) c.951T>A (p.Asn317Lys) | |
11 | g.68158154T>A | CA381588583 | KMT5B | c.1979A>T (p.Asn660Ile) n.2544A>T c.*1816A>T (n.*1816A>T) c.*1859A>T (n.*1859A>T) c.1676A>T (p.Asn559Ile) c.*1400A>T (n.*1400A>T) c.2192A>T (p.Asn731Ile) c.1472A>T (p.Asn491Ile) c.2123A>T (p.Asn708Ile) c.950A>T (p.Asn317Ile) | dbSNP |
11 | g.68158154T>C | CA381588585 | KMT5B | c.1979A>G (p.Asn660Ser) n.2544A>G c.*1816A>G (n.*1816A>G) c.*1859A>G (n.*1859A>G) c.1676A>G (p.Asn559Ser) c.*1400A>G (n.*1400A>G) c.2192A>G (p.Asn731Ser) c.1472A>G (p.Asn491Ser) c.2123A>G (p.Asn708Ser) c.950A>G (p.Asn317Ser) | |
11 | g.68158154T>G | CA381588584 | KMT5B | c.1979A>C (p.Asn660Thr) n.2544A>C c.*1816A>C (n.*1816A>C) c.*1859A>C (n.*1859A>C) c.1676A>C (p.Asn559Thr) c.*1400A>C (n.*1400A>C) c.2192A>C (p.Asn731Thr) c.1472A>C (p.Asn491Thr) c.2123A>C (p.Asn708Thr) c.950A>C (p.Asn317Thr) | |
11 | g.68158154T= | CA1980500600 | KMT5B | c.1979A= (p.Asn660=) n.2544A= c.*1816A= (n.*1816A=) c.*1859A= (n.*1859A=) c.1676A= (p.Asn559=) c.*1400A= (n.*1400A=) c.2192A= (p.Asn731=) c.1472A= (p.Asn491=) c.2123A= (p.Asn708=) c.950A= (p.Asn317=) | |
11 | g.68158156del | CA2580615743 | KMT5B | c.1979del (p.Asn660MetfsTer8) n.2544del c.*1816del (n.*1816del) c.*1859del (n.*1859del) c.1676del (p.Asn559MetfsTer8) c.*1400del (n.*1400del) c.2192del (p.Asn731MetfsTer8) c.1472del (p.Asn491MetfsTer8) c.2123del (p.Asn708MetfsTer8) c.950del (p.Asn317MetfsTer8) | ClinVar |
11 | g.68158155T>A | CA381588586 | KMT5B | c.1978A>T (p.Asn660Tyr) n.2543A>T c.*1815A>T (n.*1815A>T) c.*1858A>T (n.*1858A>T) c.1675A>T (p.Asn559Tyr) c.*1399A>T (n.*1399A>T) c.2191A>T (p.Asn731Tyr) c.1471A>T (p.Asn491Tyr) c.2122A>T (p.Asn708Tyr) c.949A>T (p.Asn317Tyr) | |
11 | g.68158155T>C | CA381588588 | KMT5B | c.1978A>G (p.Asn660Asp) n.2543A>G c.*1815A>G (n.*1815A>G) c.*1858A>G (n.*1858A>G) c.1675A>G (p.Asn559Asp) c.*1399A>G (n.*1399A>G) c.2191A>G (p.Asn731Asp) c.1471A>G (p.Asn491Asp) c.2122A>G (p.Asn708Asp) c.949A>G (p.Asn317Asp) | dbSNP gnomAD v4 |
11 | g.68158155T>G | CA381588587 | KMT5B | c.1978A>C (p.Asn660His) n.2543A>C c.*1815A>C (n.*1815A>C) c.*1858A>C (n.*1858A>C) c.1675A>C (p.Asn559His) c.*1399A>C (n.*1399A>C) c.2191A>C (p.Asn731His) c.1471A>C (p.Asn491His) c.2122A>C (p.Asn708His) c.949A>C (p.Asn317His) | gnomAD v4 |
11 | g.68158156T>A | CA475514996 | KMT5B | c.1977A>T (p.Thr659=) n.2542A>T c.*1814A>T (n.*1814A>T) c.*1857A>T (n.*1857A>T) c.1674A>T (p.Thr558=) c.*1398A>T (n.*1398A>T) c.2190A>T (p.Thr730=) c.1470A>T (p.Thr490=) c.2121A>T (p.Thr707=) c.948A>T (p.Thr316=) | |
11 | g.68158156T>C | CA475514997 | KMT5B | c.1977A>G (p.Thr659=) n.2542A>G c.*1814A>G (n.*1814A>G) c.*1857A>G (n.*1857A>G) c.1674A>G (p.Thr558=) c.*1398A>G (n.*1398A>G) c.2190A>G (p.Thr730=) c.1470A>G (p.Thr490=) c.2121A>G (p.Thr707=) c.948A>G (p.Thr316=) | |
11 | g.68158156T>G | CA475514998 | KMT5B | c.1977A>C (p.Thr659=) n.2542A>C c.*1814A>C (n.*1814A>C) c.*1857A>C (n.*1857A>C) c.1674A>C (p.Thr558=) c.*1398A>C (n.*1398A>C) c.2190A>C (p.Thr730=) c.1470A>C (p.Thr490=) c.2121A>C (p.Thr707=) c.948A>C (p.Thr316=) | |
11 | g.68158157G>A | CA6148041 | KMT5B | c.1976C>T (p.Thr659Ile) n.2541C>T c.*1813C>T (n.*1813C>T) c.*1856C>T (n.*1856C>T) c.1673C>T (p.Thr558Ile) c.*1397C>T (n.*1397C>T) c.2189C>T (p.Thr730Ile) c.1469C>T (p.Thr490Ile) c.2120C>T (p.Thr707Ile) c.947C>T (p.Thr316Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68158157G>C | CA381588589 | KMT5B | c.1976C>G (p.Thr659Arg) n.2541C>G c.*1813C>G (n.*1813C>G) c.*1856C>G (n.*1856C>G) c.1673C>G (p.Thr558Arg) c.*1397C>G (n.*1397C>G) c.2189C>G (p.Thr730Arg) c.1469C>G (p.Thr490Arg) c.2120C>G (p.Thr707Arg) c.947C>G (p.Thr316Arg) | |
11 | g.68158157G= | CA1980500602 | KMT5B | c.1976C= (p.Thr659=) n.2541C= c.*1813C= (n.*1813C=) c.*1856C= (n.*1856C=) c.1673C= (p.Thr558=) c.*1397C= (n.*1397C=) c.2189C= (p.Thr730=) c.1469C= (p.Thr490=) c.2120C= (p.Thr707=) c.947C= (p.Thr316=) | |
11 | g.68158157G>T | CA381588590 | KMT5B | c.1976C>A (p.Thr659Lys) n.2541C>A c.*1813C>A (n.*1813C>A) c.*1856C>A (n.*1856C>A) c.1673C>A (p.Thr558Lys) c.*1397C>A (n.*1397C>A) c.2189C>A (p.Thr730Lys) c.1469C>A (p.Thr490Lys) c.2120C>A (p.Thr707Lys) c.947C>A (p.Thr316Lys) | |
11 | g.68158158T>A | CA381588591 | KMT5B | c.1975A>T (p.Thr659Ser) n.2540A>T c.*1812A>T (n.*1812A>T) c.*1855A>T (n.*1855A>T) c.1672A>T (p.Thr558Ser) c.*1396A>T (n.*1396A>T) c.2188A>T (p.Thr730Ser) c.1468A>T (p.Thr490Ser) c.2119A>T (p.Thr707Ser) c.946A>T (p.Thr316Ser) | |
11 | g.68158158T>C | CA381588592 | KMT5B | c.1975A>G (p.Thr659Ala) n.2540A>G c.*1812A>G (n.*1812A>G) c.*1855A>G (n.*1855A>G) c.1672A>G (p.Thr558Ala) c.*1396A>G (n.*1396A>G) c.2188A>G (p.Thr730Ala) c.1468A>G (p.Thr490Ala) c.2119A>G (p.Thr707Ala) c.946A>G (p.Thr316Ala) | |
11 | g.68158158T>G | CA381588593 | KMT5B | c.1975A>C (p.Thr659Pro) n.2540A>C c.*1812A>C (n.*1812A>C) c.*1855A>C (n.*1855A>C) c.1672A>C (p.Thr558Pro) c.*1396A>C (n.*1396A>C) c.2188A>C (p.Thr730Pro) c.1468A>C (p.Thr490Pro) c.2119A>C (p.Thr707Pro) c.946A>C (p.Thr316Pro) | |
11 | g.68158159T>A | CA381588594 | KMT5B | c.1974A>T (p.Lys658Asn) n.2539A>T c.*1811A>T (n.*1811A>T) c.*1854A>T (n.*1854A>T) c.1671A>T (p.Lys557Asn) c.*1395A>T (n.*1395A>T) c.2187A>T (p.Lys729Asn) c.1467A>T (p.Lys489Asn) c.2118A>T (p.Lys706Asn) c.945A>T (p.Lys315Asn) | |
11 | g.68158159T>C | CA475515002 | KMT5B | c.1974A>G (p.Lys658=) n.2539A>G c.*1811A>G (n.*1811A>G) c.*1854A>G (n.*1854A>G) c.1671A>G (p.Lys557=) c.*1395A>G (n.*1395A>G) c.2187A>G (p.Lys729=) c.1467A>G (p.Lys489=) c.2118A>G (p.Lys706=) c.945A>G (p.Lys315=) | |
11 | g.68158159T>G | CA381588595 | KMT5B | c.1974A>C (p.Lys658Asn) n.2539A>C c.*1811A>C (n.*1811A>C) c.*1854A>C (n.*1854A>C) c.1671A>C (p.Lys557Asn) c.*1395A>C (n.*1395A>C) c.2187A>C (p.Lys729Asn) c.1467A>C (p.Lys489Asn) c.2118A>C (p.Lys706Asn) c.945A>C (p.Lys315Asn) | |
11 | g.68158160T>A | CA381588596 | KMT5B | c.1973A>T (p.Lys658Ile) n.2538A>T c.*1810A>T (n.*1810A>T) c.*1853A>T (n.*1853A>T) c.1670A>T (p.Lys557Ile) c.*1394A>T (n.*1394A>T) c.2186A>T (p.Lys729Ile) c.1466A>T (p.Lys489Ile) c.2117A>T (p.Lys706Ile) c.944A>T (p.Lys315Ile) | |
11 | g.68158160T>C | CA6148043 | KMT5B | c.1973A>G (p.Lys658Arg) n.2538A>G c.*1810A>G (n.*1810A>G) c.*1853A>G (n.*1853A>G) c.1670A>G (p.Lys557Arg) c.*1394A>G (n.*1394A>G) c.2186A>G (p.Lys729Arg) c.1466A>G (p.Lys489Arg) c.2117A>G (p.Lys706Arg) c.944A>G (p.Lys315Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68158160T>G | CA381588597 | KMT5B | c.1973A>C (p.Lys658Thr) n.2538A>C c.*1810A>C (n.*1810A>C) c.*1853A>C (n.*1853A>C) c.1670A>C (p.Lys557Thr) c.*1394A>C (n.*1394A>C) c.2186A>C (p.Lys729Thr) c.1466A>C (p.Lys489Thr) c.2117A>C (p.Lys706Thr) c.944A>C (p.Lys315Thr) | |
11 | g.68158160T= | CA1980500607 | KMT5B | c.1973A= (p.Lys658=) n.2538A= c.*1810A= (n.*1810A=) c.*1853A= (n.*1853A=) c.1670A= (p.Lys557=) c.*1394A= (n.*1394A=) c.2186A= (p.Lys729=) c.1466A= (p.Lys489=) c.2117A= (p.Lys706=) c.944A= (p.Lys315=) | |
11 | g.68158160_68158163delinsTTGC | CA1980500608 | KMT5B | c.1970_1973delinsGCAA (p.Ser657=) n.2535_2538delinsGCAA c.*1807_*1810delinsGCAA (n.*1807_*1810delinsGCAA) c.*1850_*1853delinsGCAA (n.*1850_*1853delinsGCAA) c.1667_1670delinsGCAA (p.Ser556=) c.*1391_*1394delinsGCAA (n.*1391_*1394delinsGCAA) c.2183_2186delinsGCAA (p.Ser728=) c.1463_1466delinsGCAA (p.Ser488=) c.2114_2117delinsGCAA (p.Ser705=) c.941_944delinsGCAA (p.Ser314=) | |
11 | g.68158161T>A | CA381588600 | KMT5B | c.1972A>T (p.Lys658Ter) n.2537A>T c.*1809A>T (n.*1809A>T) c.*1852A>T (n.*1852A>T) c.1669A>T (p.Lys557Ter) c.*1393A>T (n.*1393A>T) c.2185A>T (p.Lys729Ter) c.1465A>T (p.Lys489Ter) c.2116A>T (p.Lys706Ter) c.943A>T (p.Lys315Ter) | |
11 | g.68158161T>C | CA381588598 | KMT5B | c.1972A>G (p.Lys658Glu) n.2537A>G c.*1809A>G (n.*1809A>G) c.*1852A>G (n.*1852A>G) c.1669A>G (p.Lys557Glu) c.*1393A>G (n.*1393A>G) c.2185A>G (p.Lys729Glu) c.1465A>G (p.Lys489Glu) c.2116A>G (p.Lys706Glu) c.943A>G (p.Lys315Glu) | |
11 | g.68158161T>G | CA381588599 | KMT5B | c.1972A>C (p.Lys658Gln) n.2537A>C c.*1809A>C (n.*1809A>C) c.*1852A>C (n.*1852A>C) c.1669A>C (p.Lys557Gln) c.*1393A>C (n.*1393A>C) c.2185A>C (p.Lys729Gln) c.1465A>C (p.Lys489Gln) c.2116A>C (p.Lys706Gln) c.943A>C (p.Lys315Gln) | |
11 | g.68158168_68158170del | CA6148042 | KMT5B | c.1970_1972del (p.Ser657del) n.2535_2537del c.*1807_*1809del (n.*1807_*1809del) c.*1850_*1852del (n.*1850_*1852del) c.1667_1669del (p.Ser556del) c.*1391_*1393del (n.*1391_*1393del) c.2183_2185del (p.Ser728del) c.1463_1465del (p.Ser488del) c.2114_2116del (p.Ser705del) c.941_943del (p.Ser314del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68158162G>A | CA224248266 | KMT5B | c.1971C>T (p.Ser657=) n.2536C>T c.*1808C>T (n.*1808C>T) c.*1851C>T (n.*1851C>T) c.1668C>T (p.Ser556=) c.*1392C>T (n.*1392C>T) c.2184C>T (p.Ser728=) c.1464C>T (p.Ser488=) c.2115C>T (p.Ser705=) c.942C>T (p.Ser314=) | dbSNP |
11 | g.68158162G>C | CA381588601 | KMT5B | c.1971C>G (p.Ser657Arg) n.2536C>G c.*1808C>G (n.*1808C>G) c.*1851C>G (n.*1851C>G) c.1668C>G (p.Ser556Arg) c.*1392C>G (n.*1392C>G) c.2184C>G (p.Ser728Arg) c.1464C>G (p.Ser488Arg) c.2115C>G (p.Ser705Arg) c.942C>G (p.Ser314Arg) | |
11 | g.68158162G= | CA1980500613 | KMT5B | c.1971C= (p.Ser657=) n.2536C= c.*1808C= (n.*1808C=) c.*1851C= (n.*1851C=) c.1668C= (p.Ser556=) c.*1392C= (n.*1392C=) c.2184C= (p.Ser728=) c.1464C= (p.Ser488=) c.2115C= (p.Ser705=) c.942C= (p.Ser314=) | |
11 | g.68158162G>T | CA381588602 | KMT5B | c.1971C>A (p.Ser657Arg) n.2536C>A c.*1808C>A (n.*1808C>A) c.*1851C>A (n.*1851C>A) c.1668C>A (p.Ser556Arg) c.*1392C>A (n.*1392C>A) c.2184C>A (p.Ser728Arg) c.1464C>A (p.Ser488Arg) c.2115C>A (p.Ser705Arg) c.942C>A (p.Ser314Arg) | |
11 | g.68158163C>A | CA381588603 | KMT5B | c.1970G>T (p.Ser657Ile) n.2535G>T c.*1807G>T (n.*1807G>T) c.*1850G>T (n.*1850G>T) c.1667G>T (p.Ser556Ile) c.*1391G>T (n.*1391G>T) c.2183G>T (p.Ser728Ile) c.1463G>T (p.Ser488Ile) c.2114G>T (p.Ser705Ile) c.941G>T (p.Ser314Ile) | |
11 | g.68158163C>G | CA381588604 | KMT5B | c.1970G>C (p.Ser657Thr) n.2535G>C c.*1807G>C (n.*1807G>C) c.*1850G>C (n.*1850G>C) c.1667G>C (p.Ser556Thr) c.*1391G>C (n.*1391G>C) c.2183G>C (p.Ser728Thr) c.1463G>C (p.Ser488Thr) c.2114G>C (p.Ser705Thr) c.941G>C (p.Ser314Thr) | |
11 | g.68158163C>T | CA381588605 | KMT5B | c.1970G>A (p.Ser657Asn) n.2535G>A c.*1807G>A (n.*1807G>A) c.*1850G>A (n.*1850G>A) c.1667G>A (p.Ser556Asn) c.*1391G>A (n.*1391G>A) c.2183G>A (p.Ser728Asn) c.1463G>A (p.Ser488Asn) c.2114G>A (p.Ser705Asn) c.941G>A (p.Ser314Asn) | |
11 | g.68158164T>A | CA381588606 | KMT5B | c.1969A>T (p.Ser657Cys) n.2534A>T c.*1806A>T (n.*1806A>T) c.*1849A>T (n.*1849A>T) c.1666A>T (p.Ser556Cys) c.*1390A>T (n.*1390A>T) c.2182A>T (p.Ser728Cys) c.1462A>T (p.Ser488Cys) c.2113A>T (p.Ser705Cys) c.940A>T (p.Ser314Cys) | |
11 | g.68158164T>C | CA381588607 | KMT5B | c.1969A>G (p.Ser657Gly) n.2534A>G c.*1806A>G (n.*1806A>G) c.*1849A>G (n.*1849A>G) c.1666A>G (p.Ser556Gly) c.*1390A>G (n.*1390A>G) c.2182A>G (p.Ser728Gly) c.1462A>G (p.Ser488Gly) c.2113A>G (p.Ser705Gly) c.940A>G (p.Ser314Gly) | |
11 | g.68158164T>G | CA224248276 | KMT5B | c.1969A>C (p.Ser657Arg) n.2534A>C c.*1806A>C (n.*1806A>C) c.*1849A>C (n.*1849A>C) c.1666A>C (p.Ser556Arg) c.*1390A>C (n.*1390A>C) c.2182A>C (p.Ser728Arg) c.1462A>C (p.Ser488Arg) c.2113A>C (p.Ser705Arg) c.940A>C (p.Ser314Arg) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68158164T= | CA1980500616 | KMT5B | c.1969A= (p.Ser657=) n.2534A= c.*1806A= (n.*1806A=) c.*1849A= (n.*1849A=) c.1666A= (p.Ser556=) c.*1390A= (n.*1390A=) c.2182A= (p.Ser728=) c.1462A= (p.Ser488=) c.2113A= (p.Ser705=) c.940A= (p.Ser314=) | |
11 | g.68158165G>A | CA475515010 | KMT5B | c.1968C>T (p.Ser656=) n.2533C>T c.*1805C>T (n.*1805C>T) c.*1848C>T (n.*1848C>T) c.1665C>T (p.Ser555=) c.*1389C>T (n.*1389C>T) c.2181C>T (p.Ser727=) c.1461C>T (p.Ser487=) c.2112C>T (p.Ser704=) c.939C>T (p.Ser313=) | |
11 | g.68158165G>C | CA381588608 | KMT5B | c.1968C>G (p.Ser656Arg) n.2533C>G c.*1805C>G (n.*1805C>G) c.*1848C>G (n.*1848C>G) c.1665C>G (p.Ser555Arg) c.*1389C>G (n.*1389C>G) c.2181C>G (p.Ser727Arg) c.1461C>G (p.Ser487Arg) c.2112C>G (p.Ser704Arg) c.939C>G (p.Ser313Arg) | |
11 | g.68158165G>T | CA381588609 | KMT5B | c.1968C>A (p.Ser656Arg) n.2533C>A c.*1805C>A (n.*1805C>A) c.*1848C>A (n.*1848C>A) c.1665C>A (p.Ser555Arg) c.*1389C>A (n.*1389C>A) c.2181C>A (p.Ser727Arg) c.1461C>A (p.Ser487Arg) c.2112C>A (p.Ser704Arg) c.939C>A (p.Ser313Arg) | |
11 | g.68158166C>A | CA381588610 | KMT5B | c.1967G>T (p.Ser656Ile) n.2532G>T c.*1804G>T (n.*1804G>T) c.*1847G>T (n.*1847G>T) c.1664G>T (p.Ser555Ile) c.*1388G>T (n.*1388G>T) c.2180G>T (p.Ser727Ile) c.1460G>T (p.Ser487Ile) c.2111G>T (p.Ser704Ile) c.938G>T (p.Ser313Ile) | |
11 | g.68158166C= | CA1980500618 | KMT5B | c.1967G= (p.Ser656=) n.2532G= c.*1804G= (n.*1804G=) c.*1847G= (n.*1847G=) c.1664G= (p.Ser555=) c.*1388G= (n.*1388G=) c.2180G= (p.Ser727=) c.1460G= (p.Ser487=) c.2111G= (p.Ser704=) c.938G= (p.Ser313=) | |
11 | g.68158166C>G | CA381588611 | KMT5B | c.1967G>C (p.Ser656Thr) n.2532G>C c.*1804G>C (n.*1804G>C) c.*1847G>C (n.*1847G>C) c.1664G>C (p.Ser555Thr) c.*1388G>C (n.*1388G>C) c.2180G>C (p.Ser727Thr) c.1460G>C (p.Ser487Thr) c.2111G>C (p.Ser704Thr) c.938G>C (p.Ser313Thr) | |
11 | g.68158166C>T | CA381588612 | KMT5B | c.1967G>A (p.Ser656Asn) n.2532G>A c.*1804G>A (n.*1804G>A) c.*1847G>A (n.*1847G>A) c.1664G>A (p.Ser555Asn) c.*1388G>A (n.*1388G>A) c.2180G>A (p.Ser727Asn) c.1460G>A (p.Ser487Asn) c.2111G>A (p.Ser704Asn) c.938G>A (p.Ser313Asn) | dbSNP |
11 | g.68158167T>A | CA381588613 | KMT5B | c.1966A>T (p.Ser656Cys) n.2531A>T c.*1803A>T (n.*1803A>T) c.*1846A>T (n.*1846A>T) c.1663A>T (p.Ser555Cys) c.*1387A>T (n.*1387A>T) c.2179A>T (p.Ser727Cys) c.1459A>T (p.Ser487Cys) c.2110A>T (p.Ser704Cys) c.937A>T (p.Ser313Cys) | gnomAD v4 |
11 | g.68158167T>C | CA6148044 | KMT5B | c.1966A>G (p.Ser656Gly) n.2531A>G c.*1803A>G (n.*1803A>G) c.*1846A>G (n.*1846A>G) c.1663A>G (p.Ser555Gly) c.*1387A>G (n.*1387A>G) c.2179A>G (p.Ser727Gly) c.1459A>G (p.Ser487Gly) c.2110A>G (p.Ser704Gly) c.937A>G (p.Ser313Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68158167T>G | CA381588614 | KMT5B | c.1966A>C (p.Ser656Arg) n.2531A>C c.*1803A>C (n.*1803A>C) c.*1846A>C (n.*1846A>C) c.1663A>C (p.Ser555Arg) c.*1387A>C (n.*1387A>C) c.2179A>C (p.Ser727Arg) c.1459A>C (p.Ser487Arg) c.2110A>C (p.Ser704Arg) c.937A>C (p.Ser313Arg) | |
11 | g.68158167T= | CA1980500620 | KMT5B | c.1966A= (p.Ser656=) n.2531A= c.*1803A= (n.*1803A=) c.*1846A= (n.*1846A=) c.1663A= (p.Ser555=) c.*1387A= (n.*1387A=) c.2179A= (p.Ser727=) c.1459A= (p.Ser487=) c.2110A= (p.Ser704=) c.937A= (p.Ser313=) | |
11 | g.68158168G>A | CA475515015 | KMT5B | c.1965C>T (p.Ser655=) n.2530C>T c.*1802C>T (n.*1802C>T) c.*1845C>T (n.*1845C>T) c.1662C>T (p.Ser554=) c.*1386C>T (n.*1386C>T) c.2178C>T (p.Ser726=) c.1458C>T (p.Ser486=) c.2109C>T (p.Ser703=) c.936C>T (p.Ser312=) | gnomAD v4 |
11 | g.68158168G>C | CA381588615 | KMT5B | c.1965C>G (p.Ser655Arg) n.2530C>G c.*1802C>G (n.*1802C>G) c.*1845C>G (n.*1845C>G) c.1662C>G (p.Ser554Arg) c.*1386C>G (n.*1386C>G) c.2178C>G (p.Ser726Arg) c.1458C>G (p.Ser486Arg) c.2109C>G (p.Ser703Arg) c.936C>G (p.Ser312Arg) | |
11 | g.68158168G>T | CA381588616 | KMT5B | c.1965C>A (p.Ser655Arg) n.2530C>A c.*1802C>A (n.*1802C>A) c.*1845C>A (n.*1845C>A) c.1662C>A (p.Ser554Arg) c.*1386C>A (n.*1386C>A) c.2178C>A (p.Ser726Arg) c.1458C>A (p.Ser486Arg) c.2109C>A (p.Ser703Arg) c.936C>A (p.Ser312Arg) | |
11 | g.68158169del | CA2695214894 | KMT5B | c.1964del (p.Ser655ThrfsTer13) n.2529del c.*1801del (n.*1801del) c.*1844del (n.*1844del) c.1661del (p.Ser554ThrfsTer13) c.*1385del (n.*1385del) c.2177del (p.Ser726ThrfsTer13) c.1457del (p.Ser486ThrfsTer13) c.2108del (p.Ser703ThrfsTer13) c.935del (p.Ser312ThrfsTer13) | |
11 | g.68158169C>A | CA381588617 | KMT5B | c.1964G>T (p.Ser655Ile) n.2529G>T c.*1801G>T (n.*1801G>T) c.*1844G>T (n.*1844G>T) c.1661G>T (p.Ser554Ile) c.*1385G>T (n.*1385G>T) c.2177G>T (p.Ser726Ile) c.1457G>T (p.Ser486Ile) c.2108G>T (p.Ser703Ile) c.935G>T (p.Ser312Ile) | |
11 | g.68158169C>G | CA381588618 | KMT5B | c.1964G>C (p.Ser655Thr) n.2529G>C c.*1801G>C (n.*1801G>C) c.*1844G>C (n.*1844G>C) c.1661G>C (p.Ser554Thr) c.*1385G>C (n.*1385G>C) c.2177G>C (p.Ser726Thr) c.1457G>C (p.Ser486Thr) c.2108G>C (p.Ser703Thr) c.935G>C (p.Ser312Thr) | |
11 | g.68158169C>T | CA381588619 | KMT5B | c.1964G>A (p.Ser655Asn) n.2529G>A c.*1801G>A (n.*1801G>A) c.*1844G>A (n.*1844G>A) c.1661G>A (p.Ser554Asn) c.*1385G>A (n.*1385G>A) c.2177G>A (p.Ser726Asn) c.1457G>A (p.Ser486Asn) c.2108G>A (p.Ser703Asn) c.935G>A (p.Ser312Asn) | |
11 | g.68158169_68158170delinsG | CA2580615744 | KMT5B | c.1963_1964delinsC (p.Ser655ProfsTer13) n.2528_2529delinsC c.*1800_*1801delinsC (n.*1800_*1801delinsC) c.*1843_*1844delinsC (n.*1843_*1844delinsC) c.1660_1661delinsC (p.Ser554ProfsTer13) c.*1384_*1385delinsC (n.*1384_*1385delinsC) c.2176_2177delinsC (p.Ser726ProfsTer13) c.1456_1457delinsC (p.Ser486ProfsTer13) c.2107_2108delinsC (p.Ser703ProfsTer13) c.934_935delinsC (p.Ser312ProfsTer13) | ClinVar |
11 | g.68158170T>A | CA381588622 | KMT5B | c.1963A>T (p.Ser655Cys) n.2528A>T c.*1800A>T (n.*1800A>T) c.*1843A>T (n.*1843A>T) c.1660A>T (p.Ser554Cys) c.*1384A>T (n.*1384A>T) c.2176A>T (p.Ser726Cys) c.1456A>T (p.Ser486Cys) c.2107A>T (p.Ser703Cys) c.934A>T (p.Ser312Cys) | |
11 | g.68158170T>C | CA381588621 | KMT5B | c.1963A>G (p.Ser655Gly) n.2528A>G c.*1800A>G (n.*1800A>G) c.*1843A>G (n.*1843A>G) c.1660A>G (p.Ser554Gly) c.*1384A>G (n.*1384A>G) c.2176A>G (p.Ser726Gly) c.1456A>G (p.Ser486Gly) c.2107A>G (p.Ser703Gly) c.934A>G (p.Ser312Gly) | |
11 | g.68158170T>G | CA381588620 | KMT5B | c.1963A>C (p.Ser655Arg) n.2528A>C c.*1800A>C (n.*1800A>C) c.*1843A>C (n.*1843A>C) c.1660A>C (p.Ser554Arg) c.*1384A>C (n.*1384A>C) c.2176A>C (p.Ser726Arg) c.1456A>C (p.Ser486Arg) c.2107A>C (p.Ser703Arg) c.934A>C (p.Ser312Arg) | |
11 | g.68158171A>C | CA381588623 | KMT5B | c.1962T>G (p.Asp654Glu) n.2527T>G c.*1799T>G (n.*1799T>G) c.*1842T>G (n.*1842T>G) c.1659T>G (p.Asp553Glu) c.*1383T>G (n.*1383T>G) c.2175T>G (p.Asp725Glu) c.1455T>G (p.Asp485Glu) c.2106T>G (p.Asp702Glu) c.933T>G (p.Asp311Glu) | |
11 | g.68158171A>G | CA475515021 | KMT5B | c.1962T>C (p.Asp654=) n.2527T>C c.*1799T>C (n.*1799T>C) c.*1842T>C (n.*1842T>C) c.1659T>C (p.Asp553=) c.*1383T>C (n.*1383T>C) c.2175T>C (p.Asp725=) c.1455T>C (p.Asp485=) c.2106T>C (p.Asp702=) c.933T>C (p.Asp311=) | |
11 | g.68158171A>T | CA381588624 | KMT5B | c.1962T>A (p.Asp654Glu) n.2527T>A c.*1799T>A (n.*1799T>A) c.*1842T>A (n.*1842T>A) c.1659T>A (p.Asp553Glu) c.*1383T>A (n.*1383T>A) c.2175T>A (p.Asp725Glu) c.1455T>A (p.Asp485Glu) c.2106T>A (p.Asp702Glu) c.933T>A (p.Asp311Glu) | |
11 | g.68158172T>A | CA381588625 | KMT5B | c.1961A>T (p.Asp654Val) n.2526A>T c.*1798A>T (n.*1798A>T) c.*1841A>T (n.*1841A>T) c.1658A>T (p.Asp553Val) c.*1382A>T (n.*1382A>T) c.2174A>T (p.Asp725Val) c.1454A>T (p.Asp485Val) c.2105A>T (p.Asp702Val) c.932A>T (p.Asp311Val) | |
11 | g.68158172T>C | CA381588626 | KMT5B | c.1961A>G (p.Asp654Gly) n.2526A>G c.*1798A>G (n.*1798A>G) c.*1841A>G (n.*1841A>G) c.1658A>G (p.Asp553Gly) c.*1382A>G (n.*1382A>G) c.2174A>G (p.Asp725Gly) c.1454A>G (p.Asp485Gly) c.2105A>G (p.Asp702Gly) c.932A>G (p.Asp311Gly) | COSMIC COSMIC |
11 | g.68158172T>G | CA381588627 | KMT5B | c.1961A>C (p.Asp654Ala) n.2526A>C c.*1798A>C (n.*1798A>C) c.*1841A>C (n.*1841A>C) c.1658A>C (p.Asp553Ala) c.*1382A>C (n.*1382A>C) c.2174A>C (p.Asp725Ala) c.1454A>C (p.Asp485Ala) c.2105A>C (p.Asp702Ala) c.932A>C (p.Asp311Ala) | |
11 | g.68158173C>A | CA381588628 | KMT5B | c.1960G>T (p.Asp654Tyr) n.2525G>T c.*1797G>T (n.*1797G>T) c.*1840G>T (n.*1840G>T) c.1657G>T (p.Asp553Tyr) c.*1381G>T (n.*1381G>T) c.2173G>T (p.Asp725Tyr) c.1453G>T (p.Asp485Tyr) c.2104G>T (p.Asp702Tyr) c.931G>T (p.Asp311Tyr) | |
11 | g.68158173C= | CA1980500622 | KMT5B | c.1960G= (p.Asp654=) n.2525G= c.*1797G= (n.*1797G=) c.*1840G= (n.*1840G=) c.1657G= (p.Asp553=) c.*1381G= (n.*1381G=) c.2173G= (p.Asp725=) c.1453G= (p.Asp485=) c.2104G= (p.Asp702=) c.931G= (p.Asp311=) | |
11 | g.68158173C>G | CA381588629 | KMT5B | c.1960G>C (p.Asp654His) n.2525G>C c.*1797G>C (n.*1797G>C) c.*1840G>C (n.*1840G>C) c.1657G>C (p.Asp553His) c.*1381G>C (n.*1381G>C) c.2173G>C (p.Asp725His) c.1453G>C (p.Asp485His) c.2104G>C (p.Asp702His) c.931G>C (p.Asp311His) | dbSNP gnomAD v2 |
11 | g.68158173C>T | CA381588630 | KMT5B | c.1960G>A (p.Asp654Asn) n.2525G>A c.*1797G>A (n.*1797G>A) c.*1840G>A (n.*1840G>A) c.1657G>A (p.Asp553Asn) c.*1381G>A (n.*1381G>A) c.2173G>A (p.Asp725Asn) c.1453G>A (p.Asp485Asn) c.2104G>A (p.Asp702Asn) c.931G>A (p.Asp311Asn) | |
11 | g.68158174A= | CA1980500626 | KMT5B | c.1959T= (p.His653=) n.2524T= c.*1796T= (n.*1796T=) c.*1839T= (n.*1839T=) c.1656T= (p.His552=) c.*1380T= (n.*1380T=) c.2172T= (p.His724=) c.1452T= (p.His484=) c.2103T= (p.His701=) c.930T= (p.His310=) | |
11 | g.68158174A>C | CA381588631 | KMT5B | c.1959T>G (p.His653Gln) n.2524T>G c.*1796T>G (n.*1796T>G) c.*1839T>G (n.*1839T>G) c.1656T>G (p.His552Gln) c.*1380T>G (n.*1380T>G) c.2172T>G (p.His724Gln) c.1452T>G (p.His484Gln) c.2103T>G (p.His701Gln) c.930T>G (p.His310Gln) | |
11 | g.68158174A>G | CA475515026 | KMT5B | c.1959T>C (p.His653=) n.2524T>C c.*1796T>C (n.*1796T>C) c.*1839T>C (n.*1839T>C) c.1656T>C (p.His552=) c.*1380T>C (n.*1380T>C) c.2172T>C (p.His724=) c.1452T>C (p.His484=) c.2103T>C (p.His701=) c.930T>C (p.His310=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68158174A>T | CA381588632 | KMT5B | c.1959T>A (p.His653Gln) n.2524T>A c.*1796T>A (n.*1796T>A) c.*1839T>A (n.*1839T>A) c.1656T>A (p.His552Gln) c.*1380T>A (n.*1380T>A) c.2172T>A (p.His724Gln) c.1452T>A (p.His484Gln) c.2103T>A (p.His701Gln) c.930T>A (p.His310Gln) | |
11 | g.68158175T>A | CA381588633 | KMT5B | c.1958A>T (p.His653Leu) n.2523A>T c.*1795A>T (n.*1795A>T) c.*1838A>T (n.*1838A>T) c.1655A>T (p.His552Leu) c.*1379A>T (n.*1379A>T) c.2171A>T (p.His724Leu) c.1451A>T (p.His484Leu) c.2102A>T (p.His701Leu) c.929A>T (p.His310Leu) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68158175T>C | CA381588634 | KMT5B | c.1958A>G (p.His653Arg) n.2523A>G c.*1795A>G (n.*1795A>G) c.*1838A>G (n.*1838A>G) c.1655A>G (p.His552Arg) c.*1379A>G (n.*1379A>G) c.2171A>G (p.His724Arg) c.1451A>G (p.His484Arg) c.2102A>G (p.His701Arg) c.929A>G (p.His310Arg) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68158175T>G | CA381588635 | KMT5B | c.1958A>C (p.His653Pro) n.2523A>C c.*1795A>C (n.*1795A>C) c.*1838A>C (n.*1838A>C) c.1655A>C (p.His552Pro) c.*1379A>C (n.*1379A>C) c.2171A>C (p.His724Pro) c.1451A>C (p.His484Pro) c.2102A>C (p.His701Pro) c.929A>C (p.His310Pro) | |
11 | g.68158175T= | CA1980500627 | KMT5B | c.1958A= (p.His653=) n.2523A= c.*1795A= (n.*1795A=) c.*1838A= (n.*1838A=) c.1655A= (p.His552=) c.*1379A= (n.*1379A=) c.2171A= (p.His724=) c.1451A= (p.His484=) c.2102A= (p.His701=) c.929A= (p.His310=) | |
11 | g.68158176G>A | CA381588637 | KMT5B | c.1957C>T (p.His653Tyr) n.2522C>T c.*1794C>T (n.*1794C>T) c.*1837C>T (n.*1837C>T) c.1654C>T (p.His552Tyr) c.*1378C>T (n.*1378C>T) c.2170C>T (p.His724Tyr) c.1450C>T (p.His484Tyr) c.2101C>T (p.His701Tyr) c.928C>T (p.His310Tyr) | |
11 | g.68158176G>C | CA381588638 | KMT5B | c.1957C>G (p.His653Asp) n.2522C>G c.*1794C>G (n.*1794C>G) c.*1837C>G (n.*1837C>G) c.1654C>G (p.His552Asp) c.*1378C>G (n.*1378C>G) c.2170C>G (p.His724Asp) c.1450C>G (p.His484Asp) c.2101C>G (p.His701Asp) c.928C>G (p.His310Asp) | |
11 | g.68158176G>T | CA381588636 | KMT5B | c.1957C>A (p.His653Asn) n.2522C>A c.*1794C>A (n.*1794C>A) c.*1837C>A (n.*1837C>A) c.1654C>A (p.His552Asn) c.*1378C>A (n.*1378C>A) c.2170C>A (p.His724Asn) c.1450C>A (p.His484Asn) c.2101C>A (p.His701Asn) c.928C>A (p.His310Asn) | gnomAD v4 |
11 | g.68158177A= | CA1980500631 | KMT5B | c.1956T= (p.Arg652=) n.2521T= c.*1793T= (n.*1793T=) c.*1836T= (n.*1836T=) c.1653T= (p.Arg551=) c.*1377T= (n.*1377T=) c.2169T= (p.Arg723=) c.1449T= (p.Arg483=) c.2100T= (p.Arg700=) c.927T= (p.Arg309=) | |
11 | g.68158177A>C | CA475515028 | KMT5B | c.1956T>G (p.Arg652=) n.2521T>G c.*1793T>G (n.*1793T>G) c.*1836T>G (n.*1836T>G) c.1653T>G (p.Arg551=) c.*1377T>G (n.*1377T>G) c.2169T>G (p.Arg723=) c.1449T>G (p.Arg483=) c.2100T>G (p.Arg700=) c.927T>G (p.Arg309=) | |
11 | g.68158177A>G | CA475515029 | KMT5B | c.1956T>C (p.Arg652=) n.2521T>C c.*1793T>C (n.*1793T>C) c.*1836T>C (n.*1836T>C) c.1653T>C (p.Arg551=) c.*1377T>C (n.*1377T>C) c.2169T>C (p.Arg723=) c.1449T>C (p.Arg483=) c.2100T>C (p.Arg700=) c.927T>C (p.Arg309=) | |
11 | g.68158177A>T | CA6148045 | KMT5B | c.1956T>A (p.Arg652=) n.2521T>A c.*1793T>A (n.*1793T>A) c.*1836T>A (n.*1836T>A) c.1653T>A (p.Arg551=) c.*1377T>A (n.*1377T>A) c.2169T>A (p.Arg723=) c.1449T>A (p.Arg483=) c.2100T>A (p.Arg700=) c.927T>A (p.Arg309=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68158178C>A | CA381588639 | KMT5B | c.1955G>T (p.Arg652Leu) n.2520G>T c.*1792G>T (n.*1792G>T) c.*1835G>T (n.*1835G>T) c.1652G>T (p.Arg551Leu) c.*1376G>T (n.*1376G>T) c.2168G>T (p.Arg723Leu) c.1448G>T (p.Arg483Leu) c.2099G>T (p.Arg700Leu) c.926G>T (p.Arg309Leu) | |
11 | g.68158178C= | CA1980500635 | KMT5B | c.1955G= (p.Arg652=) n.2520G= c.*1792G= (n.*1792G=) c.*1835G= (n.*1835G=) c.1652G= (p.Arg551=) c.*1376G= (n.*1376G=) c.2168G= (p.Arg723=) c.1448G= (p.Arg483=) c.2099G= (p.Arg700=) c.926G= (p.Arg309=) | |
11 | g.68158178C>G | CA381588640 | KMT5B | c.1955G>C (p.Arg652Pro) n.2520G>C c.*1792G>C (n.*1792G>C) c.*1835G>C (n.*1835G>C) c.1652G>C (p.Arg551Pro) c.*1376G>C (n.*1376G>C) c.2168G>C (p.Arg723Pro) c.1448G>C (p.Arg483Pro) c.2099G>C (p.Arg700Pro) c.926G>C (p.Arg309Pro) | |
11 | g.68158178C>T | CA381588641 | KMT5B | c.1955G>A (p.Arg652His) n.2520G>A c.*1792G>A (n.*1792G>A) c.*1835G>A (n.*1835G>A) c.1652G>A (p.Arg551His) c.*1376G>A (n.*1376G>A) c.2168G>A (p.Arg723His) c.1448G>A (p.Arg483His) c.2099G>A (p.Arg700His) c.926G>A (p.Arg309His) | dbSNP gnomAD v4 |
11 | g.68158179G>A | CA381588642 | KMT5B | c.1954C>T (p.Arg652Cys) n.2519C>T c.*1791C>T (n.*1791C>T) c.*1834C>T (n.*1834C>T) c.1651C>T (p.Arg551Cys) c.*1375C>T (n.*1375C>T) c.2167C>T (p.Arg723Cys) c.1447C>T (p.Arg483Cys) c.2098C>T (p.Arg700Cys) c.925C>T (p.Arg309Cys) | dbSNP gnomAD v4 |
11 | g.68158179G>C | CA381588643 | KMT5B | c.1954C>G (p.Arg652Gly) n.2519C>G c.*1791C>G (n.*1791C>G) c.*1834C>G (n.*1834C>G) c.1651C>G (p.Arg551Gly) c.*1375C>G (n.*1375C>G) c.2167C>G (p.Arg723Gly) c.1447C>G (p.Arg483Gly) c.2098C>G (p.Arg700Gly) c.925C>G (p.Arg309Gly) | |
11 | g.68158179G= | CA1980500644 | KMT5B | c.1954C= (p.Arg652=) n.2519C= c.*1791C= (n.*1791C=) c.*1834C= (n.*1834C=) c.1651C= (p.Arg551=) c.*1375C= (n.*1375C=) c.2167C= (p.Arg723=) c.1447C= (p.Arg483=) c.2098C= (p.Arg700=) c.925C= (p.Arg309=) | |
11 | g.68158179G>T | CA381588644 | KMT5B | c.1954C>A (p.Arg652Ser) n.2519C>A c.*1791C>A (n.*1791C>A) c.*1834C>A (n.*1834C>A) c.1651C>A (p.Arg551Ser) c.*1375C>A (n.*1375C>A) c.2167C>A (p.Arg723Ser) c.1447C>A (p.Arg483Ser) c.2098C>A (p.Arg700Ser) c.925C>A (p.Arg309Ser) | |
11 | g.68158180C>A | CA381588646 | KMT5B | c.1953G>T (p.Arg651Ser) n.2518G>T c.*1790G>T (n.*1790G>T) c.*1833G>T (n.*1833G>T) c.1650G>T (p.Arg550Ser) c.*1374G>T (n.*1374G>T) c.2166G>T (p.Arg722Ser) c.1446G>T (p.Arg482Ser) c.2097G>T (p.Arg699Ser) c.924G>T (p.Arg308Ser) | |
11 | g.68158180C>G | CA381588645 | KMT5B | c.1953G>C (p.Arg651Ser) n.2518G>C c.*1790G>C (n.*1790G>C) c.*1833G>C (n.*1833G>C) c.1650G>C (p.Arg550Ser) c.*1374G>C (n.*1374G>C) c.2166G>C (p.Arg722Ser) c.1446G>C (p.Arg482Ser) c.2097G>C (p.Arg699Ser) c.924G>C (p.Arg308Ser) | |
11 | g.68158180C>T | CA475515033 | KMT5B | c.1953G>A (p.Arg651=) n.2518G>A c.*1790G>A (n.*1790G>A) c.*1833G>A (n.*1833G>A) c.1650G>A (p.Arg550=) c.*1374G>A (n.*1374G>A) c.2166G>A (p.Arg722=) c.1446G>A (p.Arg482=) c.2097G>A (p.Arg699=) c.924G>A (p.Arg308=) | gnomAD v4 |
11 | g.68158181C>A | CA381588647 | KMT5B | c.1952G>T (p.Arg651Met) n.2517G>T c.*1789G>T (n.*1789G>T) c.*1832G>T (n.*1832G>T) c.1649G>T (p.Arg550Met) c.*1373G>T (n.*1373G>T) c.2165G>T (p.Arg722Met) c.1445G>T (p.Arg482Met) c.2096G>T (p.Arg699Met) c.923G>T (p.Arg308Met) | |
11 | g.68158181C>G | CA381588648 | KMT5B | c.1952G>C (p.Arg651Thr) n.2517G>C c.*1789G>C (n.*1789G>C) c.*1832G>C (n.*1832G>C) c.1649G>C (p.Arg550Thr) c.*1373G>C (n.*1373G>C) c.2165G>C (p.Arg722Thr) c.1445G>C (p.Arg482Thr) c.2096G>C (p.Arg699Thr) c.923G>C (p.Arg308Thr) | ClinVar dbSNP |
11 | g.68158181C>T | CA381588649 | KMT5B | c.1952G>A (p.Arg651Lys) n.2517G>A c.*1789G>A (n.*1789G>A) c.*1832G>A (n.*1832G>A) c.1649G>A (p.Arg550Lys) c.*1373G>A (n.*1373G>A) c.2165G>A (p.Arg722Lys) c.1445G>A (p.Arg482Lys) c.2096G>A (p.Arg699Lys) c.923G>A (p.Arg308Lys) | |
11 | g.68158182T>A | CA381588650 | KMT5B | c.1951A>T (p.Arg651Trp) n.2516A>T c.*1788A>T (n.*1788A>T) c.*1831A>T (n.*1831A>T) c.1648A>T (p.Arg550Trp) c.*1372A>T (n.*1372A>T) c.2164A>T (p.Arg722Trp) c.1444A>T (p.Arg482Trp) c.2095A>T (p.Arg699Trp) c.922A>T (p.Arg308Trp) | |
11 | g.68158182T>C | CA381588651 | KMT5B | c.1951A>G (p.Arg651Gly) n.2516A>G c.*1788A>G (n.*1788A>G) c.*1831A>G (n.*1831A>G) c.1648A>G (p.Arg550Gly) c.*1372A>G (n.*1372A>G) c.2164A>G (p.Arg722Gly) c.1444A>G (p.Arg482Gly) c.2095A>G (p.Arg699Gly) c.922A>G (p.Arg308Gly) | |
11 | g.68158182T>G | CA475515037 | KMT5B | c.1951A>C (p.Arg651=) n.2516A>C c.*1788A>C (n.*1788A>C) c.*1831A>C (n.*1831A>C) c.1648A>C (p.Arg550=) c.*1372A>C (n.*1372A>C) c.2164A>C (p.Arg722=) c.1444A>C (p.Arg482=) c.2095A>C (p.Arg699=) c.922A>C (p.Arg308=) | |
11 | g.68158183A= | CA1980500648 | KMT5B | c.1950T= (p.Arg650=) n.2515T= c.*1787T= (n.*1787T=) c.*1830T= (n.*1830T=) c.1647T= (p.Arg549=) c.*1371T= (n.*1371T=) c.2163T= (p.Arg721=) c.1443T= (p.Arg481=) c.2094T= (p.Arg698=) c.921T= (p.Arg307=) | |
11 | g.68158183A>C | CA475515038 | KMT5B | c.1950T>G (p.Arg650=) n.2515T>G c.*1787T>G (n.*1787T>G) c.*1830T>G (n.*1830T>G) c.1647T>G (p.Arg549=) c.*1371T>G (n.*1371T>G) c.2163T>G (p.Arg721=) c.1443T>G (p.Arg481=) c.2094T>G (p.Arg698=) c.921T>G (p.Arg307=) | |
11 | g.68158183A>G | CA6148046 | KMT5B | c.1950T>C (p.Arg650=) n.2515T>C c.*1787T>C (n.*1787T>C) c.*1830T>C (n.*1830T>C) c.1647T>C (p.Arg549=) c.*1371T>C (n.*1371T>C) c.2163T>C (p.Arg721=) c.1443T>C (p.Arg481=) c.2094T>C (p.Arg698=) c.921T>C (p.Arg307=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68158183A>T | CA475515039 | KMT5B | c.1950T>A (p.Arg650=) n.2515T>A c.*1787T>A (n.*1787T>A) c.*1830T>A (n.*1830T>A) c.1647T>A (p.Arg549=) c.*1371T>A (n.*1371T>A) c.2163T>A (p.Arg721=) c.1443T>A (p.Arg481=) c.2094T>A (p.Arg698=) c.921T>A (p.Arg307=) | |
11 | g.68158184C>A | CA381588652 | KMT5B | c.1949G>T (p.Arg650Leu) n.2514G>T c.*1786G>T (n.*1786G>T) c.*1829G>T (n.*1829G>T) c.1646G>T (p.Arg549Leu) c.*1370G>T (n.*1370G>T) c.2162G>T (p.Arg721Leu) c.1442G>T (p.Arg481Leu) c.2093G>T (p.Arg698Leu) c.920G>T (p.Arg307Leu) | |
11 | g.68158184C= | CA1980500653 | KMT5B | c.1949G= (p.Arg650=) n.2514G= c.*1786G= (n.*1786G=) c.*1829G= (n.*1829G=) c.1646G= (p.Arg549=) c.*1370G= (n.*1370G=) c.2162G= (p.Arg721=) c.1442G= (p.Arg481=) c.2093G= (p.Arg698=) c.920G= (p.Arg307=) | |
11 | g.68158184C>G | CA381588654 | KMT5B | c.1949G>C (p.Arg650Pro) n.2514G>C c.*1786G>C (n.*1786G>C) c.*1829G>C (n.*1829G>C) c.1646G>C (p.Arg549Pro) c.*1370G>C (n.*1370G>C) c.2162G>C (p.Arg721Pro) c.1442G>C (p.Arg481Pro) c.2093G>C (p.Arg698Pro) c.920G>C (p.Arg307Pro) | |
11 | g.68158184C>T | CA381588653 | KMT5B | c.1949G>A (p.Arg650His) n.2514G>A c.*1786G>A (n.*1786G>A) c.*1829G>A (n.*1829G>A) c.1646G>A (p.Arg549His) c.*1370G>A (n.*1370G>A) c.2162G>A (p.Arg721His) c.1442G>A (p.Arg481His) c.2093G>A (p.Arg698His) c.920G>A (p.Arg307His) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
11 | g.68158185G>A | CA381588655 | KMT5B | c.1948C>T (p.Arg650Cys) n.2513C>T c.*1785C>T (n.*1785C>T) c.*1828C>T (n.*1828C>T) c.1645C>T (p.Arg549Cys) c.*1369C>T (n.*1369C>T) c.2161C>T (p.Arg721Cys) c.1441C>T (p.Arg481Cys) c.2092C>T (p.Arg698Cys) c.919C>T (p.Arg307Cys) | dbSNP gnomAD v4 COSMIC COSMIC |
11 | g.68158185G>C | CA381588656 | KMT5B | c.1948C>G (p.Arg650Gly) n.2513C>G c.*1785C>G (n.*1785C>G) c.*1828C>G (n.*1828C>G) c.1645C>G (p.Arg549Gly) c.*1369C>G (n.*1369C>G) c.2161C>G (p.Arg721Gly) c.1441C>G (p.Arg481Gly) c.2092C>G (p.Arg698Gly) c.919C>G (p.Arg307Gly) | |
11 | g.68158185G= | CA1980500657 | KMT5B | c.1948C= (p.Arg650=) n.2513C= c.*1785C= (n.*1785C=) c.*1828C= (n.*1828C=) c.1645C= (p.Arg549=) c.*1369C= (n.*1369C=) c.2161C= (p.Arg721=) c.1441C= (p.Arg481=) c.2092C= (p.Arg698=) c.919C= (p.Arg307=) | |
11 | g.68158185G>T | CA381588657 | KMT5B | c.1948C>A (p.Arg650Ser) n.2513C>A c.*1785C>A (n.*1785C>A) c.*1828C>A (n.*1828C>A) c.1645C>A (p.Arg549Ser) c.*1369C>A (n.*1369C>A) c.2161C>A (p.Arg721Ser) c.1441C>A (p.Arg481Ser) c.2092C>A (p.Arg698Ser) c.919C>A (p.Arg307Ser) | |
11 | g.68158186A= | CA1980500661 | KMT5B | c.1947T= (p.Leu649=) n.2512T= c.*1784T= (n.*1784T=) c.*1827T= (n.*1827T=) c.1644T= (p.Leu548=) c.*1368T= (n.*1368T=) c.2160T= (p.Leu720=) c.1440T= (p.Leu480=) c.2091T= (p.Leu697=) c.918T= (p.Leu306=) | |
11 | g.68158186A>C | CA6148048 | KMT5B | c.1947T>G (p.Leu649=) n.2512T>G c.*1784T>G (n.*1784T>G) c.*1827T>G (n.*1827T>G) c.1644T>G (p.Leu548=) c.*1368T>G (n.*1368T>G) c.2160T>G (p.Leu720=) c.1440T>G (p.Leu480=) c.2091T>G (p.Leu697=) c.918T>G (p.Leu306=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68158186A>G | CA6148047 | KMT5B | c.1947T>C (p.Leu649=) n.2512T>C c.*1784T>C (n.*1784T>C) c.*1827T>C (n.*1827T>C) c.1644T>C (p.Leu548=) c.*1368T>C (n.*1368T>C) c.2160T>C (p.Leu720=) c.1440T>C (p.Leu480=) c.2091T>C (p.Leu697=) c.918T>C (p.Leu306=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68158186A>T | CA475514800 | KMT5B | c.1947T>A (p.Leu649=) n.2512T>A c.*1784T>A (n.*1784T>A) c.*1827T>A (n.*1827T>A) c.1644T>A (p.Leu548=) c.*1368T>A (n.*1368T>A) c.2160T>A (p.Leu720=) c.1440T>A (p.Leu480=) c.2091T>A (p.Leu697=) c.918T>A (p.Leu306=) | |
11 | g.68158187A>C | CA381589441 | KMT5B | c.1946T>G (p.Leu649Arg) n.2511T>G c.*1783T>G (n.*1783T>G) c.*1826T>G (n.*1826T>G) c.1643T>G (p.Leu548Arg) c.*1367T>G (n.*1367T>G) c.2159T>G (p.Leu720Arg) c.1439T>G (p.Leu480Arg) c.2090T>G (p.Leu697Arg) c.917T>G (p.Leu306Arg) | |
11 | g.68158187A>G | CA381589443 | KMT5B | c.1946T>C (p.Leu649Pro) n.2511T>C c.*1783T>C (n.*1783T>C) c.*1826T>C (n.*1826T>C) c.1643T>C (p.Leu548Pro) c.*1367T>C (n.*1367T>C) c.2159T>C (p.Leu720Pro) c.1439T>C (p.Leu480Pro) c.2090T>C (p.Leu697Pro) c.917T>C (p.Leu306Pro) | |
11 | g.68158187A>T | CA381589444 | KMT5B | c.1946T>A (p.Leu649His) n.2511T>A c.*1783T>A (n.*1783T>A) c.*1826T>A (n.*1826T>A) c.1643T>A (p.Leu548His) c.*1367T>A (n.*1367T>A) c.2159T>A (p.Leu720His) c.1439T>A (p.Leu480His) c.2090T>A (p.Leu697His) c.917T>A (p.Leu306His) | |
11 | g.68158189_68158190del | CA645596787 | KMT5B | c.1945_1946del (p.Leu649SerfsTer2) n.2510_2511del c.*1782_*1783del (n.*1782_*1783del) c.*1825_*1826del (n.*1825_*1826del) c.1642_1643del (p.Leu548SerfsTer2) c.*1366_*1367del (n.*1366_*1367del) c.2158_2159del (p.Leu720SerfsTer2) c.1438_1439del (p.Leu480SerfsTer2) c.2089_2090del (p.Leu697SerfsTer2) c.916_917del (p.Leu306SerfsTer2) | COSMIC COSMIC |
11 | g.68158188G>A | CA381589446 | KMT5B | c.1945C>T (p.Leu649Phe) n.2510C>T c.*1782C>T (n.*1782C>T) c.*1825C>T (n.*1825C>T) c.1642C>T (p.Leu548Phe) c.*1366C>T (n.*1366C>T) c.2158C>T (p.Leu720Phe) c.1438C>T (p.Leu480Phe) c.2089C>T (p.Leu697Phe) c.916C>T (p.Leu306Phe) | |
11 | g.68158188G>C | CA381589449 | KMT5B | c.1945C>G (p.Leu649Val) n.2510C>G c.*1782C>G (n.*1782C>G) c.*1825C>G (n.*1825C>G) c.1642C>G (p.Leu548Val) c.*1366C>G (n.*1366C>G) c.2158C>G (p.Leu720Val) c.1438C>G (p.Leu480Val) c.2089C>G (p.Leu697Val) c.916C>G (p.Leu306Val) | |
11 | g.68158188G>T | CA381589452 | KMT5B | c.1945C>A (p.Leu649Ile) n.2510C>A c.*1782C>A (n.*1782C>A) c.*1825C>A (n.*1825C>A) c.1642C>A (p.Leu548Ile) c.*1366C>A (n.*1366C>A) c.2158C>A (p.Leu720Ile) c.1438C>A (p.Leu480Ile) c.2089C>A (p.Leu697Ile) c.916C>A (p.Leu306Ile) | |
11 | g.68158189A= | CA1980500671 | KMT5B | c.1944T= (p.Thr648=) n.2509T= c.*1781T= (n.*1781T=) c.*1824T= (n.*1824T=) c.1641T= (p.Thr547=) c.*1365T= (n.*1365T=) c.2157T= (p.Thr719=) c.1437T= (p.Thr479=) c.2088T= (p.Thr696=) c.915T= (p.Thr305=) | |
11 | g.68158189A>C | CA475514805 | KMT5B | c.1944T>G (p.Thr648=) n.2509T>G c.*1781T>G (n.*1781T>G) c.*1824T>G (n.*1824T>G) c.1641T>G (p.Thr547=) c.*1365T>G (n.*1365T>G) c.2157T>G (p.Thr719=) c.1437T>G (p.Thr479=) c.2088T>G (p.Thr696=) c.915T>G (p.Thr305=) | dbSNP gnomAD v4 |
11 | g.68158189A>G | CA475514804 | KMT5B | c.1944T>C (p.Thr648=) n.2509T>C c.*1781T>C (n.*1781T>C) c.*1824T>C (n.*1824T>C) c.1641T>C (p.Thr547=) c.*1365T>C (n.*1365T>C) c.2157T>C (p.Thr719=) c.1437T>C (p.Thr479=) c.2088T>C (p.Thr696=) c.915T>C (p.Thr305=) | |
11 | g.68158189A>T | CA475514803 | KMT5B | c.1944T>A (p.Thr648=) n.2509T>A c.*1781T>A (n.*1781T>A) c.*1824T>A (n.*1824T>A) c.1641T>A (p.Thr547=) c.*1365T>A (n.*1365T>A) c.2157T>A (p.Thr719=) c.1437T>A (p.Thr479=) c.2088T>A (p.Thr696=) c.915T>A (p.Thr305=) | |
11 | g.68158190G>A | CA381589461 | KMT5B | c.1943C>T (p.Thr648Ile) n.2508C>T c.*1780C>T (n.*1780C>T) c.*1823C>T (n.*1823C>T) c.1640C>T (p.Thr547Ile) c.*1364C>T (n.*1364C>T) c.2156C>T (p.Thr719Ile) c.1436C>T (p.Thr479Ile) c.2087C>T (p.Thr696Ile) c.914C>T (p.Thr305Ile) | |
11 | g.68158190G>C | CA381589456 | KMT5B | c.1943C>G (p.Thr648Ser) n.2508C>G c.*1780C>G (n.*1780C>G) c.*1823C>G (n.*1823C>G) c.1640C>G (p.Thr547Ser) c.*1364C>G (n.*1364C>G) c.2156C>G (p.Thr719Ser) c.1436C>G (p.Thr479Ser) c.2087C>G (p.Thr696Ser) c.914C>G (p.Thr305Ser) | |
11 | g.68158190G>T | CA381589455 | KMT5B | c.1943C>A (p.Thr648Asn) n.2508C>A c.*1780C>A (n.*1780C>A) c.*1823C>A (n.*1823C>A) c.1640C>A (p.Thr547Asn) c.*1364C>A (n.*1364C>A) c.2156C>A (p.Thr719Asn) c.1436C>A (p.Thr479Asn) c.2087C>A (p.Thr696Asn) c.914C>A (p.Thr305Asn) | |
11 | g.68158191T>A | CA381589465 | KMT5B | c.1942A>T (p.Thr648Ser) n.2507A>T c.*1779A>T (n.*1779A>T) c.*1822A>T (n.*1822A>T) c.1639A>T (p.Thr547Ser) c.*1363A>T (n.*1363A>T) c.2155A>T (p.Thr719Ser) c.1435A>T (p.Thr479Ser) c.2086A>T (p.Thr696Ser) c.913A>T (p.Thr305Ser) | |
11 | g.68158191T>C | CA381589467 | KMT5B | c.1942A>G (p.Thr648Ala) n.2507A>G c.*1779A>G (n.*1779A>G) c.*1822A>G (n.*1822A>G) c.1639A>G (p.Thr547Ala) c.*1363A>G (n.*1363A>G) c.2155A>G (p.Thr719Ala) c.1435A>G (p.Thr479Ala) c.2086A>G (p.Thr696Ala) c.913A>G (p.Thr305Ala) | |
11 | g.68158191T>G | CA381589476 | KMT5B | c.1942A>C (p.Thr648Pro) n.2507A>C c.*1779A>C (n.*1779A>C) c.*1822A>C (n.*1822A>C) c.1639A>C (p.Thr547Pro) c.*1363A>C (n.*1363A>C) c.2155A>C (p.Thr719Pro) c.1435A>C (p.Thr479Pro) c.2086A>C (p.Thr696Pro) c.913A>C (p.Thr305Pro) | |
11 | g.68158192C>A | CA381589480 | KMT5B | c.1941G>T (p.Leu647Phe) n.2506G>T c.*1778G>T (n.*1778G>T) c.*1821G>T (n.*1821G>T) c.1638G>T (p.Leu546Phe) c.*1362G>T (n.*1362G>T) c.2154G>T (p.Leu718Phe) c.1434G>T (p.Leu478Phe) c.2085G>T (p.Leu695Phe) c.912G>T (p.Leu304Phe) | |
11 | g.68158192C= | CA1980500677 | KMT5B | c.1941G= (p.Leu647=) n.2506G= c.*1778G= (n.*1778G=) c.*1821G= (n.*1821G=) c.1638G= (p.Leu546=) c.*1362G= (n.*1362G=) c.2154G= (p.Leu718=) c.1434G= (p.Leu478=) c.2085G= (p.Leu695=) c.912G= (p.Leu304=) | |
11 | g.68158192C>G | CA381589483 | KMT5B | c.1941G>C (p.Leu647Phe) n.2506G>C c.*1778G>C (n.*1778G>C) c.*1821G>C (n.*1821G>C) c.1638G>C (p.Leu546Phe) c.*1362G>C (n.*1362G>C) c.2154G>C (p.Leu718Phe) c.1434G>C (p.Leu478Phe) c.2085G>C (p.Leu695Phe) c.912G>C (p.Leu304Phe) | |
11 | g.68158192C>T | CA475514808 | KMT5B | c.1941G>A (p.Leu647=) n.2506G>A c.*1778G>A (n.*1778G>A) c.*1821G>A (n.*1821G>A) c.1638G>A (p.Leu546=) c.*1362G>A (n.*1362G>A) c.2154G>A (p.Leu718=) c.1434G>A (p.Leu478=) c.2085G>A (p.Leu695=) c.912G>A (p.Leu304=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68158193A>C | CA381589492 | KMT5B | c.1940T>G (p.Leu647Trp) n.2505T>G c.*1777T>G (n.*1777T>G) c.*1820T>G (n.*1820T>G) c.1637T>G (p.Leu546Trp) c.*1361T>G (n.*1361T>G) c.2153T>G (p.Leu718Trp) c.1433T>G (p.Leu478Trp) c.2084T>G (p.Leu695Trp) c.911T>G (p.Leu304Trp) | |
11 | g.68158193A>G | CA381589494 | KMT5B | c.1940T>C (p.Leu647Ser) n.2505T>C c.*1777T>C (n.*1777T>C) c.*1820T>C (n.*1820T>C) c.1637T>C (p.Leu546Ser) c.*1361T>C (n.*1361T>C) c.2153T>C (p.Leu718Ser) c.1433T>C (p.Leu478Ser) c.2084T>C (p.Leu695Ser) c.911T>C (p.Leu304Ser) | |
11 | g.68158193A>T | CA381589496 | KMT5B | c.1940T>A (p.Leu647Ter) n.2505T>A c.*1777T>A (n.*1777T>A) c.*1820T>A (n.*1820T>A) c.1637T>A (p.Leu546Ter) c.*1361T>A (n.*1361T>A) c.2153T>A (p.Leu718Ter) c.1433T>A (p.Leu478Ter) c.2084T>A (p.Leu695Ter) c.911T>A (p.Leu304Ter) | |
11 | g.68158194A>C | CA381589505 | KMT5B | c.1939T>G (p.Leu647Val) n.2504T>G c.*1776T>G (n.*1776T>G) c.*1819T>G (n.*1819T>G) c.1636T>G (p.Leu546Val) c.*1360T>G (n.*1360T>G) c.2152T>G (p.Leu718Val) c.1432T>G (p.Leu478Val) c.2083T>G (p.Leu695Val) c.910T>G (p.Leu304Val) | |
11 | g.68158194A>G | CA475514810 | KMT5B | c.1939T>C (p.Leu647=) n.2504T>C c.*1776T>C (n.*1776T>C) c.*1819T>C (n.*1819T>C) c.1636T>C (p.Leu546=) c.*1360T>C (n.*1360T>C) c.2152T>C (p.Leu718=) c.1432T>C (p.Leu478=) c.2083T>C (p.Leu695=) c.910T>C (p.Leu304=) | gnomAD v4 |
11 | g.68158194A>T | CA381589508 | KMT5B | c.1939T>A (p.Leu647Met) n.2504T>A c.*1776T>A (n.*1776T>A) c.*1819T>A (n.*1819T>A) c.1636T>A (p.Leu546Met) c.*1360T>A (n.*1360T>A) c.2152T>A (p.Leu718Met) c.1432T>A (p.Leu478Met) c.2083T>A (p.Leu695Met) c.910T>A (p.Leu304Met) | |
11 | g.68158195T>A | CA381589511 | KMT5B | c.1938A>T (p.Lys646Asn) n.2503A>T c.*1775A>T (n.*1775A>T) c.*1818A>T (n.*1818A>T) c.1635A>T (p.Lys545Asn) c.*1359A>T (n.*1359A>T) c.2151A>T (p.Lys717Asn) c.1431A>T (p.Lys477Asn) c.2082A>T (p.Lys694Asn) c.909A>T (p.Lys303Asn) | |
11 | g.68158195T>C | CA475514812 | KMT5B | c.1938A>G (p.Lys646=) n.2503A>G c.*1775A>G (n.*1775A>G) c.*1818A>G (n.*1818A>G) c.1635A>G (p.Lys545=) c.*1359A>G (n.*1359A>G) c.2151A>G (p.Lys717=) c.1431A>G (p.Lys477=) c.2082A>G (p.Lys694=) c.909A>G (p.Lys303=) | gnomAD v4 COSMIC COSMIC |
11 | g.68158195T>G | CA381589514 | KMT5B | c.1938A>C (p.Lys646Asn) n.2503A>C c.*1775A>C (n.*1775A>C) c.*1818A>C (n.*1818A>C) c.1635A>C (p.Lys545Asn) c.*1359A>C (n.*1359A>C) c.2151A>C (p.Lys717Asn) c.1431A>C (p.Lys477Asn) c.2082A>C (p.Lys694Asn) c.909A>C (p.Lys303Asn) | |
11 | g.68158196T>A | CA381589520 | KMT5B | c.1937A>T (p.Lys646Ile) n.2502A>T c.*1774A>T (n.*1774A>T) c.*1817A>T (n.*1817A>T) c.1634A>T (p.Lys545Ile) c.*1358A>T (n.*1358A>T) c.2150A>T (p.Lys717Ile) c.1430A>T (p.Lys477Ile) c.2081A>T (p.Lys694Ile) c.908A>T (p.Lys303Ile) | |
11 | g.68158196T>C | CA381589522 | KMT5B | c.1937A>G (p.Lys646Arg) n.2502A>G c.*1774A>G (n.*1774A>G) c.*1817A>G (n.*1817A>G) c.1634A>G (p.Lys545Arg) c.*1358A>G (n.*1358A>G) c.2150A>G (p.Lys717Arg) c.1430A>G (p.Lys477Arg) c.2081A>G (p.Lys694Arg) c.908A>G (p.Lys303Arg) | ClinVar gnomAD v4 |
11 | g.68158196T>G | CA381589517 | KMT5B | c.1937A>C (p.Lys646Thr) n.2502A>C c.*1774A>C (n.*1774A>C) c.*1817A>C (n.*1817A>C) c.1634A>C (p.Lys545Thr) c.*1358A>C (n.*1358A>C) c.2150A>C (p.Lys717Thr) c.1430A>C (p.Lys477Thr) c.2081A>C (p.Lys694Thr) c.908A>C (p.Lys303Thr) | |
11 | g.68158197T>A | CA381589525 | KMT5B | c.1936A>T (p.Lys646Ter) n.2501A>T c.*1773A>T (n.*1773A>T) c.*1816A>T (n.*1816A>T) c.1633A>T (p.Lys545Ter) c.*1357A>T (n.*1357A>T) c.2149A>T (p.Lys717Ter) c.1429A>T (p.Lys477Ter) c.2080A>T (p.Lys694Ter) c.907A>T (p.Lys303Ter) | |
11 | g.68158197T>C | CA381589529 | KMT5B | c.1936A>G (p.Lys646Glu) n.2501A>G c.*1773A>G (n.*1773A>G) c.*1816A>G (n.*1816A>G) c.1633A>G (p.Lys545Glu) c.*1357A>G (n.*1357A>G) c.2149A>G (p.Lys717Glu) c.1429A>G (p.Lys477Glu) c.2080A>G (p.Lys694Glu) c.907A>G (p.Lys303Glu) | |
11 | g.68158197T>G | CA381589533 | KMT5B | c.1936A>C (p.Lys646Gln) n.2501A>C c.*1773A>C (n.*1773A>C) c.*1816A>C (n.*1816A>C) c.1633A>C (p.Lys545Gln) c.*1357A>C (n.*1357A>C) c.2149A>C (p.Lys717Gln) c.1429A>C (p.Lys477Gln) c.2080A>C (p.Lys694Gln) c.907A>C (p.Lys303Gln) | |
11 | g.68158198G>A | CA475514816 | KMT5B | c.1935C>T (p.Pro645=) n.2500C>T c.*1772C>T (n.*1772C>T) c.*1815C>T (n.*1815C>T) c.1632C>T (p.Pro544=) c.*1356C>T (n.*1356C>T) c.2148C>T (p.Pro716=) c.1428C>T (p.Pro476=) c.2079C>T (p.Pro693=) c.906C>T (p.Pro302=) | gnomAD v4 COSMIC |
11 | g.68158198G>C | CA475514817 | KMT5B | c.1935C>G (p.Pro645=) n.2500C>G c.*1772C>G (n.*1772C>G) c.*1815C>G (n.*1815C>G) c.1632C>G (p.Pro544=) c.*1356C>G (n.*1356C>G) c.2148C>G (p.Pro716=) c.1428C>G (p.Pro476=) c.2079C>G (p.Pro693=) c.906C>G (p.Pro302=) | |
11 | g.68158198G>T | CA475514818 | KMT5B | c.1935C>A (p.Pro645=) n.2500C>A c.*1772C>A (n.*1772C>A) c.*1815C>A (n.*1815C>A) c.1632C>A (p.Pro544=) c.*1356C>A (n.*1356C>A) c.2148C>A (p.Pro716=) c.1428C>A (p.Pro476=) c.2079C>A (p.Pro693=) c.906C>A (p.Pro302=) | |
11 | g.68158199G>A | CA381589536 | KMT5B | c.1934C>T (p.Pro645Leu) n.2499C>T c.*1771C>T (n.*1771C>T) c.*1814C>T (n.*1814C>T) c.1631C>T (p.Pro544Leu) c.*1355C>T (n.*1355C>T) c.2147C>T (p.Pro716Leu) c.1427C>T (p.Pro476Leu) c.2078C>T (p.Pro693Leu) c.905C>T (p.Pro302Leu) | |
11 | g.68158199G>C | CA381589540 | KMT5B | c.1934C>G (p.Pro645Arg) n.2499C>G c.*1771C>G (n.*1771C>G) c.*1814C>G (n.*1814C>G) c.1631C>G (p.Pro544Arg) c.*1355C>G (n.*1355C>G) c.2147C>G (p.Pro716Arg) c.1427C>G (p.Pro476Arg) c.2078C>G (p.Pro693Arg) c.905C>G (p.Pro302Arg) | |
11 | g.68158199G>T | CA381589543 | KMT5B | c.1934C>A (p.Pro645His) n.2499C>A c.*1771C>A (n.*1771C>A) c.*1814C>A (n.*1814C>A) c.1631C>A (p.Pro544His) c.*1355C>A (n.*1355C>A) c.2147C>A (p.Pro716His) c.1427C>A (p.Pro476His) c.2078C>A (p.Pro693His) c.905C>A (p.Pro302His) | |
11 | g.68158200G>A | CA381589546 | KMT5B | c.1933C>T (p.Pro645Ser) n.2498C>T c.*1770C>T (n.*1770C>T) c.*1813C>T (n.*1813C>T) c.1630C>T (p.Pro544Ser) c.*1354C>T (n.*1354C>T) c.2146C>T (p.Pro716Ser) c.1426C>T (p.Pro476Ser) c.2077C>T (p.Pro693Ser) c.904C>T (p.Pro302Ser) | |
11 | g.68158200G>C | CA381589550 | KMT5B | c.1933C>G (p.Pro645Ala) n.2498C>G c.*1770C>G (n.*1770C>G) c.*1813C>G (n.*1813C>G) c.1630C>G (p.Pro544Ala) c.*1354C>G (n.*1354C>G) c.2146C>G (p.Pro716Ala) c.1426C>G (p.Pro476Ala) c.2077C>G (p.Pro693Ala) c.904C>G (p.Pro302Ala) | |
11 | g.68158200G>T | CA381589548 | KMT5B | c.1933C>A (p.Pro645Thr) n.2498C>A c.*1770C>A (n.*1770C>A) c.*1813C>A (n.*1813C>A) c.1630C>A (p.Pro544Thr) c.*1354C>A (n.*1354C>A) c.2146C>A (p.Pro716Thr) c.1426C>A (p.Pro476Thr) c.2077C>A (p.Pro693Thr) c.904C>A (p.Pro302Thr) | |
11 | g.68158201A>C | CA381589553 | KMT5B | c.1932T>G (p.Ile644Met) n.2497T>G c.*1769T>G (n.*1769T>G) c.*1812T>G (n.*1812T>G) c.1629T>G (p.Ile543Met) c.*1353T>G (n.*1353T>G) c.2145T>G (p.Ile715Met) c.1425T>G (p.Ile475Met) c.2076T>G (p.Ile692Met) c.903T>G (p.Ile301Met) | |
11 | g.68158201A>G | CA475514820 | KMT5B | c.1932T>C (p.Ile644=) n.2497T>C c.*1769T>C (n.*1769T>C) c.*1812T>C (n.*1812T>C) c.1629T>C (p.Ile543=) c.*1353T>C (n.*1353T>C) c.2145T>C (p.Ile715=) c.1425T>C (p.Ile475=) c.2076T>C (p.Ile692=) c.903T>C (p.Ile301=) | |
11 | g.68158201A>T | CA475514821 | KMT5B | c.1932T>A (p.Ile644=) n.2497T>A c.*1769T>A (n.*1769T>A) c.*1812T>A (n.*1812T>A) c.1629T>A (p.Ile543=) c.*1353T>A (n.*1353T>A) c.2145T>A (p.Ile715=) c.1425T>A (p.Ile475=) c.2076T>A (p.Ile692=) c.903T>A (p.Ile301=) | |
11 | g.68158202A>C | CA381589554 | KMT5B | c.1931T>G (p.Ile644Ser) n.2496T>G c.*1768T>G (n.*1768T>G) c.*1811T>G (n.*1811T>G) c.1628T>G (p.Ile543Ser) c.*1352T>G (n.*1352T>G) c.2144T>G (p.Ile715Ser) c.1424T>G (p.Ile475Ser) c.2075T>G (p.Ile692Ser) c.902T>G (p.Ile301Ser) | |
11 | g.68158202A>G | CA381589555 | KMT5B | c.1931T>C (p.Ile644Thr) n.2496T>C c.*1768T>C (n.*1768T>C) c.*1811T>C (n.*1811T>C) c.1628T>C (p.Ile543Thr) c.*1352T>C (n.*1352T>C) c.2144T>C (p.Ile715Thr) c.1424T>C (p.Ile475Thr) c.2075T>C (p.Ile692Thr) c.902T>C (p.Ile301Thr) | |
11 | g.68158202A>T | CA381589556 | KMT5B | c.1931T>A (p.Ile644Asn) n.2496T>A c.*1768T>A (n.*1768T>A) c.*1811T>A (n.*1811T>A) c.1628T>A (p.Ile543Asn) c.*1352T>A (n.*1352T>A) c.2144T>A (p.Ile715Asn) c.1424T>A (p.Ile475Asn) c.2075T>A (p.Ile692Asn) c.902T>A (p.Ile301Asn) | |
11 | g.68158203T>A | CA381589561 | KMT5B | c.1930A>T (p.Ile644Phe) n.2495A>T c.*1767A>T (n.*1767A>T) c.*1810A>T (n.*1810A>T) c.1627A>T (p.Ile543Phe) c.*1351A>T (n.*1351A>T) c.2143A>T (p.Ile715Phe) c.1423A>T (p.Ile475Phe) c.2074A>T (p.Ile692Phe) c.901A>T (p.Ile301Phe) | |
11 | g.68158203T>C | CA381589559 | KMT5B | c.1930A>G (p.Ile644Val) n.2495A>G c.*1767A>G (n.*1767A>G) c.*1810A>G (n.*1810A>G) c.1627A>G (p.Ile543Val) c.*1351A>G (n.*1351A>G) c.2143A>G (p.Ile715Val) c.1423A>G (p.Ile475Val) c.2074A>G (p.Ile692Val) c.901A>G (p.Ile301Val) | dbSNP gnomAD v2 |
11 | g.68158203T>G | CA381589558 | KMT5B | c.1930A>C (p.Ile644Leu) n.2495A>C c.*1767A>C (n.*1767A>C) c.*1810A>C (n.*1810A>C) c.1627A>C (p.Ile543Leu) c.*1351A>C (n.*1351A>C) c.2143A>C (p.Ile715Leu) c.1423A>C (p.Ile475Leu) c.2074A>C (p.Ile692Leu) c.901A>C (p.Ile301Leu) | |
11 | g.68158203T= | CA1980500680 | KMT5B | c.1930A= (p.Ile644=) n.2495A= c.*1767A= (n.*1767A=) c.*1810A= (n.*1810A=) c.1627A= (p.Ile543=) c.*1351A= (n.*1351A=) c.2143A= (p.Ile715=) c.1423A= (p.Ile475=) c.2074A= (p.Ile692=) c.901A= (p.Ile301=) | |
11 | g.68158204C>A | CA475514823 | KMT5B | c.1929G>T (p.Gly643=) n.2494G>T c.*1766G>T (n.*1766G>T) c.*1809G>T (n.*1809G>T) c.1626G>T (p.Gly542=) c.*1350G>T (n.*1350G>T) c.2142G>T (p.Gly714=) c.1422G>T (p.Gly474=) c.2073G>T (p.Gly691=) c.900G>T (p.Gly300=) | |
11 | g.68158204C= | CA1980500684 | KMT5B | c.1929G= (p.Gly643=) n.2494G= c.*1766G= (n.*1766G=) c.*1809G= (n.*1809G=) c.1626G= (p.Gly542=) c.*1350G= (n.*1350G=) c.2142G= (p.Gly714=) c.1422G= (p.Gly474=) c.2073G= (p.Gly691=) c.900G= (p.Gly300=) | |
11 | g.68158204C>G | CA475514824 | KMT5B | c.1929G>C (p.Gly643=) n.2494G>C c.*1766G>C (n.*1766G>C) c.*1809G>C (n.*1809G>C) c.1626G>C (p.Gly542=) c.*1350G>C (n.*1350G>C) c.2142G>C (p.Gly714=) c.1422G>C (p.Gly474=) c.2073G>C (p.Gly691=) c.900G>C (p.Gly300=) | |
11 | g.68158204C>T | CA6148049 | KMT5B | c.1929G>A (p.Gly643=) n.2494G>A c.*1766G>A (n.*1766G>A) c.*1809G>A (n.*1809G>A) c.1626G>A (p.Gly542=) c.*1350G>A (n.*1350G>A) c.2142G>A (p.Gly714=) c.1422G>A (p.Gly474=) c.2073G>A (p.Gly691=) c.900G>A (p.Gly300=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68158205C>A | CA381589567 | KMT5B | c.1928G>T (p.Gly643Val) n.2493G>T c.*1765G>T (n.*1765G>T) c.*1808G>T (n.*1808G>T) c.1625G>T (p.Gly542Val) c.*1349G>T (n.*1349G>T) c.2141G>T (p.Gly714Val) c.1421G>T (p.Gly474Val) c.2072G>T (p.Gly691Val) c.899G>T (p.Gly300Val) | |
11 | g.68158205C= | CA1980500692 | KMT5B | c.1928G= (p.Gly643=) n.2493G= c.*1765G= (n.*1765G=) c.*1808G= (n.*1808G=) c.1625G= (p.Gly542=) c.*1349G= (n.*1349G=) c.2141G= (p.Gly714=) c.1421G= (p.Gly474=) c.2072G= (p.Gly691=) c.899G= (p.Gly300=) | |
11 | g.68158205C>G | CA381589566 | KMT5B | c.1928G>C (p.Gly643Ala) n.2493G>C c.*1765G>C (n.*1765G>C) c.*1808G>C (n.*1808G>C) c.1625G>C (p.Gly542Ala) c.*1349G>C (n.*1349G>C) c.2141G>C (p.Gly714Ala) c.1421G>C (p.Gly474Ala) c.2072G>C (p.Gly691Ala) c.899G>C (p.Gly300Ala) | gnomAD v4 |
11 | g.68158205C>T | CA6148050 | KMT5B | c.1928G>A (p.Gly643Glu) n.2493G>A c.*1765G>A (n.*1765G>A) c.*1808G>A (n.*1808G>A) c.1625G>A (p.Gly542Glu) c.*1349G>A (n.*1349G>A) c.2141G>A (p.Gly714Glu) c.1421G>A (p.Gly474Glu) c.2072G>A (p.Gly691Glu) c.899G>A (p.Gly300Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68158206C>A | CA381589569 | KMT5B | c.1927G>T (p.Gly643Trp) n.2492G>T c.*1764G>T (n.*1764G>T) c.*1807G>T (n.*1807G>T) c.1624G>T (p.Gly542Trp) c.*1348G>T (n.*1348G>T) c.2140G>T (p.Gly714Trp) c.1420G>T (p.Gly474Trp) c.2071G>T (p.Gly691Trp) c.898G>T (p.Gly300Trp) | |
11 | g.68158206C>G | CA381589571 | KMT5B | c.1927G>C (p.Gly643Arg) n.2492G>C c.*1764G>C (n.*1764G>C) c.*1807G>C (n.*1807G>C) c.1624G>C (p.Gly542Arg) c.*1348G>C (n.*1348G>C) c.2140G>C (p.Gly714Arg) c.1420G>C (p.Gly474Arg) c.2071G>C (p.Gly691Arg) c.898G>C (p.Gly300Arg) | |
11 | g.68158206C>T | CA381589570 | KMT5B | c.1927G>A (p.Gly643Arg) n.2492G>A c.*1764G>A (n.*1764G>A) c.*1807G>A (n.*1807G>A) c.1624G>A (p.Gly542Arg) c.*1348G>A (n.*1348G>A) c.2140G>A (p.Gly714Arg) c.1420G>A (p.Gly474Arg) c.2071G>A (p.Gly691Arg) c.898G>A (p.Gly300Arg) | |
11 | g.68158207A= | CA1980500698 | KMT5B | c.1926T= (p.Ser642=) n.2491T= c.*1763T= (n.*1763T=) c.*1806T= (n.*1806T=) c.1623T= (p.Ser541=) c.*1347T= (n.*1347T=) c.2139T= (p.Ser713=) c.1419T= (p.Ser473=) c.2070T= (p.Ser690=) c.897T= (p.Ser299=) | |
11 | g.68158207A>C | CA475514829 | KMT5B | c.1926T>G (p.Ser642=) n.2491T>G c.*1763T>G (n.*1763T>G) c.*1806T>G (n.*1806T>G) c.1623T>G (p.Ser541=) c.*1347T>G (n.*1347T>G) c.2139T>G (p.Ser713=) c.1419T>G (p.Ser473=) c.2070T>G (p.Ser690=) c.897T>G (p.Ser299=) | |
11 | g.68158207A>G | CA475514831 | KMT5B | c.1926T>C (p.Ser642=) n.2491T>C c.*1763T>C (n.*1763T>C) c.*1806T>C (n.*1806T>C) c.1623T>C (p.Ser541=) c.*1347T>C (n.*1347T>C) c.2139T>C (p.Ser713=) c.1419T>C (p.Ser473=) c.2070T>C (p.Ser690=) c.897T>C (p.Ser299=) | dbSNP |
11 | g.68158207A>T | CA475514830 | KMT5B | c.1926T>A (p.Ser642=) n.2491T>A c.*1763T>A (n.*1763T>A) c.*1806T>A (n.*1806T>A) c.1623T>A (p.Ser541=) c.*1347T>A (n.*1347T>A) c.2139T>A (p.Ser713=) c.1419T>A (p.Ser473=) c.2070T>A (p.Ser690=) c.897T>A (p.Ser299=) | |
11 | g.68158208G>A | CA381589574 | KMT5B | c.1925C>T (p.Ser642Phe) n.2490C>T c.*1762C>T (n.*1762C>T) c.*1805C>T (n.*1805C>T) c.1622C>T (p.Ser541Phe) c.*1346C>T (n.*1346C>T) c.2138C>T (p.Ser713Phe) c.1418C>T (p.Ser473Phe) c.2069C>T (p.Ser690Phe) c.896C>T (p.Ser299Phe) | |
11 | g.68158208G>C | CA381589576 | KMT5B | c.1925C>G (p.Ser642Cys) n.2490C>G c.*1762C>G (n.*1762C>G) c.*1805C>G (n.*1805C>G) c.1622C>G (p.Ser541Cys) c.*1346C>G (n.*1346C>G) c.2138C>G (p.Ser713Cys) c.1418C>G (p.Ser473Cys) c.2069C>G (p.Ser690Cys) c.896C>G (p.Ser299Cys) | |
11 | g.68158208G>T | CA381589578 | KMT5B | c.1925C>A (p.Ser642Tyr) n.2490C>A c.*1762C>A (n.*1762C>A) c.*1805C>A (n.*1805C>A) c.1622C>A (p.Ser541Tyr) c.*1346C>A (n.*1346C>A) c.2138C>A (p.Ser713Tyr) c.1418C>A (p.Ser473Tyr) c.2069C>A (p.Ser690Tyr) c.896C>A (p.Ser299Tyr) | |
11 | g.68158209A>C | CA381589581 | KMT5B | c.1924T>G (p.Ser642Ala) n.2489T>G c.*1761T>G (n.*1761T>G) c.*1804T>G (n.*1804T>G) c.1621T>G (p.Ser541Ala) c.*1345T>G (n.*1345T>G) c.2137T>G (p.Ser713Ala) c.1417T>G (p.Ser473Ala) c.2068T>G (p.Ser690Ala) c.895T>G (p.Ser299Ala) | |
11 | g.68158209A>G | CA381589584 | KMT5B | c.1924T>C (p.Ser642Pro) n.2489T>C c.*1761T>C (n.*1761T>C) c.*1804T>C (n.*1804T>C) c.1621T>C (p.Ser541Pro) c.*1345T>C (n.*1345T>C) c.2137T>C (p.Ser713Pro) c.1417T>C (p.Ser473Pro) c.2068T>C (p.Ser690Pro) c.895T>C (p.Ser299Pro) | |
11 | g.68158209A>T | CA381589587 | KMT5B | c.1924T>A (p.Ser642Thr) n.2489T>A c.*1761T>A (n.*1761T>A) c.*1804T>A (n.*1804T>A) c.1621T>A (p.Ser541Thr) c.*1345T>A (n.*1345T>A) c.2137T>A (p.Ser713Thr) c.1417T>A (p.Ser473Thr) c.2068T>A (p.Ser690Thr) c.895T>A (p.Ser299Thr) | |
11 | g.68158210G>A | CA6148051 | KMT5B | c.1923C>T (p.Asn641=) n.2488C>T c.*1760C>T (n.*1760C>T) c.*1803C>T (n.*1803C>T) c.1620C>T (p.Asn540=) c.*1344C>T (n.*1344C>T) c.2136C>T (p.Asn712=) c.1416C>T (p.Asn472=) c.2067C>T (p.Asn689=) c.894C>T (p.Asn298=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68158210G>C | CA381589590 | KMT5B | c.1923C>G (p.Asn641Lys) n.2488C>G c.*1760C>G (n.*1760C>G) c.*1803C>G (n.*1803C>G) c.1620C>G (p.Asn540Lys) c.*1344C>G (n.*1344C>G) c.2136C>G (p.Asn712Lys) c.1416C>G (p.Asn472Lys) c.2067C>G (p.Asn689Lys) c.894C>G (p.Asn298Lys) | gnomAD v4 |
11 | g.68158210G= | CA1980500703 | KMT5B | c.1923C= (p.Asn641=) n.2488C= c.*1760C= (n.*1760C=) c.*1803C= (n.*1803C=) c.1620C= (p.Asn540=) c.*1344C= (n.*1344C=) c.2136C= (p.Asn712=) c.1416C= (p.Asn472=) c.2067C= (p.Asn689=) c.894C= (p.Asn298=) | |
11 | g.68158210G>T | CA381589597 | KMT5B | c.1923C>A (p.Asn641Lys) n.2488C>A c.*1760C>A (n.*1760C>A) c.*1803C>A (n.*1803C>A) c.1620C>A (p.Asn540Lys) c.*1344C>A (n.*1344C>A) c.2136C>A (p.Asn712Lys) c.1416C>A (p.Asn472Lys) c.2067C>A (p.Asn689Lys) c.894C>A (p.Asn298Lys) | COSMIC COSMIC |
11 | g.68158211T>A | CA381589600 | KMT5B | c.1922A>T (p.Asn641Ile) n.2487A>T c.*1759A>T (n.*1759A>T) c.*1802A>T (n.*1802A>T) c.1619A>T (p.Asn540Ile) c.*1343A>T (n.*1343A>T) c.2135A>T (p.Asn712Ile) c.1415A>T (p.Asn472Ile) c.2066A>T (p.Asn689Ile) c.893A>T (p.Asn298Ile) | |
11 | g.68158211T>C | CA381589615 | KMT5B | c.1922A>G (p.Asn641Ser) n.2487A>G c.*1759A>G (n.*1759A>G) c.*1802A>G (n.*1802A>G) c.1619A>G (p.Asn540Ser) c.*1343A>G (n.*1343A>G) c.2135A>G (p.Asn712Ser) c.1415A>G (p.Asn472Ser) c.2066A>G (p.Asn689Ser) c.893A>G (p.Asn298Ser) | |
11 | g.68158211T>G | CA381589618 | KMT5B | c.1922A>C (p.Asn641Thr) n.2487A>C c.*1759A>C (n.*1759A>C) c.*1802A>C (n.*1802A>C) c.1619A>C (p.Asn540Thr) c.*1343A>C (n.*1343A>C) c.2135A>C (p.Asn712Thr) c.1415A>C (p.Asn472Thr) c.2066A>C (p.Asn689Thr) c.893A>C (p.Asn298Thr) | |
11 | g.68158212T>A | CA381589626 | KMT5B | c.1921A>T (p.Asn641Tyr) n.2486A>T c.*1758A>T (n.*1758A>T) c.*1801A>T (n.*1801A>T) c.1618A>T (p.Asn540Tyr) c.*1342A>T (n.*1342A>T) c.2134A>T (p.Asn712Tyr) c.1414A>T (p.Asn472Tyr) c.2065A>T (p.Asn689Tyr) c.892A>T (p.Asn298Tyr) | |
11 | g.68158212T>C | CA381589621 | KMT5B | c.1921A>G (p.Asn641Asp) n.2486A>G c.*1758A>G (n.*1758A>G) c.*1801A>G (n.*1801A>G) c.1618A>G (p.Asn540Asp) c.*1342A>G (n.*1342A>G) c.2134A>G (p.Asn712Asp) c.1414A>G (p.Asn472Asp) c.2065A>G (p.Asn689Asp) c.892A>G (p.Asn298Asp) | |
11 | g.68158212T>G | CA381589623 | KMT5B | c.1921A>C (p.Asn641His) n.2486A>C c.*1758A>C (n.*1758A>C) c.*1801A>C (n.*1801A>C) c.1618A>C (p.Asn540His) c.*1342A>C (n.*1342A>C) c.2134A>C (p.Asn712His) c.1414A>C (p.Asn472His) c.2065A>C (p.Asn689His) c.892A>C (p.Asn298His) | |
11 | g.68158213A= | CA1980500708 | KMT5B | c.1920T= (p.Asn640=) n.2485T= c.*1757T= (n.*1757T=) c.*1800T= (n.*1800T=) c.1617T= (p.Asn539=) c.*1341T= (n.*1341T=) c.2133T= (p.Asn711=) c.1413T= (p.Asn471=) c.2064T= (p.Asn688=) c.891T= (p.Asn297=) | |
11 | g.68158213A>C | CA381589628 | KMT5B | c.1920T>G (p.Asn640Lys) n.2485T>G c.*1757T>G (n.*1757T>G) c.*1800T>G (n.*1800T>G) c.1617T>G (p.Asn539Lys) c.*1341T>G (n.*1341T>G) c.2133T>G (p.Asn711Lys) c.1413T>G (p.Asn471Lys) c.2064T>G (p.Asn688Lys) c.891T>G (p.Asn297Lys) | |
11 | g.68158213A>G | CA475514836 | KMT5B | c.1920T>C (p.Asn640=) n.2485T>C c.*1757T>C (n.*1757T>C) c.*1800T>C (n.*1800T>C) c.1617T>C (p.Asn539=) c.*1341T>C (n.*1341T>C) c.2133T>C (p.Asn711=) c.1413T>C (p.Asn471=) c.2064T>C (p.Asn688=) c.891T>C (p.Asn297=) | dbSNP gnomAD v4 |
11 | g.68158213A>T | CA381589630 | KMT5B | c.1920T>A (p.Asn640Lys) n.2485T>A c.*1757T>A (n.*1757T>A) c.*1800T>A (n.*1800T>A) c.1617T>A (p.Asn539Lys) c.*1341T>A (n.*1341T>A) c.2133T>A (p.Asn711Lys) c.1413T>A (p.Asn471Lys) c.2064T>A (p.Asn688Lys) c.891T>A (p.Asn297Lys) | |
11 | g.68158214T>A | CA381589633 | KMT5B | c.1919A>T (p.Asn640Ile) n.2484A>T c.*1756A>T (n.*1756A>T) c.*1799A>T (n.*1799A>T) c.1616A>T (p.Asn539Ile) c.*1340A>T (n.*1340A>T) c.2132A>T (p.Asn711Ile) c.1412A>T (p.Asn471Ile) c.2063A>T (p.Asn688Ile) c.890A>T (p.Asn297Ile) | |
11 | g.68158214T>C | CA381589636 | KMT5B | c.1919A>G (p.Asn640Ser) n.2484A>G c.*1756A>G (n.*1756A>G) c.*1799A>G (n.*1799A>G) c.1616A>G (p.Asn539Ser) c.*1340A>G (n.*1340A>G) c.2132A>G (p.Asn711Ser) c.1412A>G (p.Asn471Ser) c.2063A>G (p.Asn688Ser) c.890A>G (p.Asn297Ser) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68158214T>G | CA381589639 | KMT5B | c.1919A>C (p.Asn640Thr) n.2484A>C c.*1756A>C (n.*1756A>C) c.*1799A>C (n.*1799A>C) c.1616A>C (p.Asn539Thr) c.*1340A>C (n.*1340A>C) c.2132A>C (p.Asn711Thr) c.1412A>C (p.Asn471Thr) c.2063A>C (p.Asn688Thr) c.890A>C (p.Asn297Thr) | |
11 | g.68158214T= | CA1980500712 | KMT5B | c.1919A= (p.Asn640=) n.2484A= c.*1756A= (n.*1756A=) c.*1799A= (n.*1799A=) c.1616A= (p.Asn539=) c.*1340A= (n.*1340A=) c.2132A= (p.Asn711=) c.1412A= (p.Asn471=) c.2063A= (p.Asn688=) c.890A= (p.Asn297=) | |
11 | g.68158215T>A | CA381589644 | KMT5B | c.1918A>T (p.Asn640Tyr) n.2483A>T c.*1755A>T (n.*1755A>T) c.*1798A>T (n.*1798A>T) c.1615A>T (p.Asn539Tyr) c.*1339A>T (n.*1339A>T) c.2131A>T (p.Asn711Tyr) c.1411A>T (p.Asn471Tyr) c.2062A>T (p.Asn688Tyr) c.889A>T (p.Asn297Tyr) | |
11 | g.68158215T>C | CA381589645 | KMT5B | c.1918A>G (p.Asn640Asp) n.2483A>G c.*1755A>G (n.*1755A>G) c.*1798A>G (n.*1798A>G) c.1615A>G (p.Asn539Asp) c.*1339A>G (n.*1339A>G) c.2131A>G (p.Asn711Asp) c.1411A>G (p.Asn471Asp) c.2062A>G (p.Asn688Asp) c.889A>G (p.Asn297Asp) | |
11 | g.68158215T>G | CA381589648 | KMT5B | c.1918A>C (p.Asn640His) n.2483A>C c.*1755A>C (n.*1755A>C) c.*1798A>C (n.*1798A>C) c.1615A>C (p.Asn539His) c.*1339A>C (n.*1339A>C) c.2131A>C (p.Asn711His) c.1411A>C (p.Asn471His) c.2062A>C (p.Asn688His) c.889A>C (p.Asn297His) | |
11 | g.68158216T>A | CA381589650 | KMT5B | c.1917A>T (p.Glu639Asp) n.2482A>T c.*1754A>T (n.*1754A>T) c.*1797A>T (n.*1797A>T) c.1614A>T (p.Glu538Asp) c.*1338A>T (n.*1338A>T) c.2130A>T (p.Glu710Asp) c.1410A>T (p.Glu470Asp) c.2061A>T (p.Glu687Asp) c.888A>T (p.Glu296Asp) | |
11 | g.68158216T>C | CA475514839 | KMT5B | c.1917A>G (p.Glu639=) n.2482A>G c.*1754A>G (n.*1754A>G) c.*1797A>G (n.*1797A>G) c.1614A>G (p.Glu538=) c.*1338A>G (n.*1338A>G) c.2130A>G (p.Glu710=) c.1410A>G (p.Glu470=) c.2061A>G (p.Glu687=) c.888A>G (p.Glu296=) | |
11 | g.68158216T>G | CA381589652 | KMT5B | c.1917A>C (p.Glu639Asp) n.2482A>C c.*1754A>C (n.*1754A>C) c.*1797A>C (n.*1797A>C) c.1614A>C (p.Glu538Asp) c.*1338A>C (n.*1338A>C) c.2130A>C (p.Glu710Asp) c.1410A>C (p.Glu470Asp) c.2061A>C (p.Glu687Asp) c.888A>C (p.Glu296Asp) | |
11 | g.68158217T>A | CA381589659 | KMT5B | c.1916A>T (p.Glu639Val) n.2481A>T c.*1753A>T (n.*1753A>T) c.*1796A>T (n.*1796A>T) c.1613A>T (p.Glu538Val) c.*1337A>T (n.*1337A>T) c.2129A>T (p.Glu710Val) c.1409A>T (p.Glu470Val) c.2060A>T (p.Glu687Val) c.887A>T (p.Glu296Val) | |
11 | g.68158217T>C | CA381589658 | KMT5B | c.1916A>G (p.Glu639Gly) n.2481A>G c.*1753A>G (n.*1753A>G) c.*1796A>G (n.*1796A>G) c.1613A>G (p.Glu538Gly) c.*1337A>G (n.*1337A>G) c.2129A>G (p.Glu710Gly) c.1409A>G (p.Glu470Gly) c.2060A>G (p.Glu687Gly) c.887A>G (p.Glu296Gly) | gnomAD v4 |
11 | g.68158217T>G | CA381589655 | KMT5B | c.1916A>C (p.Glu639Ala) n.2481A>C c.*1753A>C (n.*1753A>C) c.*1796A>C (n.*1796A>C) c.1613A>C (p.Glu538Ala) c.*1337A>C (n.*1337A>C) c.2129A>C (p.Glu710Ala) c.1409A>C (p.Glu470Ala) c.2060A>C (p.Glu687Ala) c.887A>C (p.Glu296Ala) | |
11 | g.68158218C>A | CA381589663 | KMT5B | c.1915G>T (p.Glu639Ter) n.2480G>T c.*1752G>T (n.*1752G>T) c.*1795G>T (n.*1795G>T) c.1612G>T (p.Glu538Ter) c.*1336G>T (n.*1336G>T) c.2128G>T (p.Glu710Ter) c.1408G>T (p.Glu470Ter) c.2059G>T (p.Glu687Ter) c.886G>T (p.Glu296Ter) | |
11 | g.68158218C>G | CA381589665 | KMT5B | c.1915G>C (p.Glu639Gln) n.2480G>C c.*1752G>C (n.*1752G>C) c.*1795G>C (n.*1795G>C) c.1612G>C (p.Glu538Gln) c.*1336G>C (n.*1336G>C) c.2128G>C (p.Glu710Gln) c.1408G>C (p.Glu470Gln) c.2059G>C (p.Glu687Gln) c.886G>C (p.Glu296Gln) | |
11 | g.68158218C>T | CA381589669 | KMT5B | c.1915G>A (p.Glu639Lys) n.2480G>A c.*1752G>A (n.*1752G>A) c.*1795G>A (n.*1795G>A) c.1612G>A (p.Glu538Lys) c.*1336G>A (n.*1336G>A) c.2128G>A (p.Glu710Lys) c.1408G>A (p.Glu470Lys) c.2059G>A (p.Glu687Lys) c.886G>A (p.Glu296Lys) | |
11 | g.68158219T>A | CA475514840 | KMT5B | c.1914A>T (p.Leu638=) n.2479A>T c.*1751A>T (n.*1751A>T) c.*1794A>T (n.*1794A>T) c.1611A>T (p.Leu537=) c.*1335A>T (n.*1335A>T) c.2127A>T (p.Leu709=) c.1407A>T (p.Leu469=) c.2058A>T (p.Leu686=) c.885A>T (p.Leu295=) | |
11 | g.68158219T>C | CA475514841 | KMT5B | c.1914A>G (p.Leu638=) n.2479A>G c.*1751A>G (n.*1751A>G) c.*1794A>G (n.*1794A>G) c.1611A>G (p.Leu537=) c.*1335A>G (n.*1335A>G) c.2127A>G (p.Leu709=) c.1407A>G (p.Leu469=) c.2058A>G (p.Leu686=) c.885A>G (p.Leu295=) | |
11 | g.68158219T>G | CA475514842 | KMT5B | c.1914A>C (p.Leu638=) n.2479A>C c.*1751A>C (n.*1751A>C) c.*1794A>C (n.*1794A>C) c.1611A>C (p.Leu537=) c.*1335A>C (n.*1335A>C) c.2127A>C (p.Leu709=) c.1407A>C (p.Leu469=) c.2058A>C (p.Leu686=) c.885A>C (p.Leu295=) | |
11 | g.68158220A>C | CA381589673 | KMT5B | c.1913T>G (p.Leu638Arg) n.2478T>G c.*1750T>G (n.*1750T>G) c.*1793T>G (n.*1793T>G) c.1610T>G (p.Leu537Arg) c.*1334T>G (n.*1334T>G) c.2126T>G (p.Leu709Arg) c.1406T>G (p.Leu469Arg) c.2057T>G (p.Leu686Arg) c.884T>G (p.Leu295Arg) | |
11 | g.68158220A>G | CA381589675 | KMT5B | c.1913T>C (p.Leu638Pro) n.2478T>C c.*1750T>C (n.*1750T>C) c.*1793T>C (n.*1793T>C) c.1610T>C (p.Leu537Pro) c.*1334T>C (n.*1334T>C) c.2126T>C (p.Leu709Pro) c.1406T>C (p.Leu469Pro) c.2057T>C (p.Leu686Pro) c.884T>C (p.Leu295Pro) | |
11 | g.68158220A>T | CA381589676 | KMT5B | c.1913T>A (p.Leu638Gln) n.2478T>A c.*1750T>A (n.*1750T>A) c.*1793T>A (n.*1793T>A) c.1610T>A (p.Leu537Gln) c.*1334T>A (n.*1334T>A) c.2126T>A (p.Leu709Gln) c.1406T>A (p.Leu469Gln) c.2057T>A (p.Leu686Gln) c.884T>A (p.Leu295Gln) | |
11 | g.68158221G>A | CA475514844 | KMT5B | c.1912C>T (p.Leu638=) n.2477C>T c.*1749C>T (n.*1749C>T) c.*1792C>T (n.*1792C>T) c.1609C>T (p.Leu537=) c.*1333C>T (n.*1333C>T) c.2125C>T (p.Leu709=) c.1405C>T (p.Leu469=) c.2056C>T (p.Leu686=) c.883C>T (p.Leu295=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68158221G>C | CA381589680 | KMT5B | c.1912C>G (p.Leu638Val) n.2477C>G c.*1749C>G (n.*1749C>G) c.*1792C>G (n.*1792C>G) c.1609C>G (p.Leu537Val) c.*1333C>G (n.*1333C>G) c.2125C>G (p.Leu709Val) c.1405C>G (p.Leu469Val) c.2056C>G (p.Leu686Val) c.883C>G (p.Leu295Val) | |
11 | g.68158221G= | CA1980500729 | KMT5B | c.1912C= (p.Leu638=) n.2477C= c.*1749C= (n.*1749C=) c.*1792C= (n.*1792C=) c.1609C= (p.Leu537=) c.*1333C= (n.*1333C=) c.2125C= (p.Leu709=) c.1405C= (p.Leu469=) c.2056C= (p.Leu686=) c.883C= (p.Leu295=) | |
11 | g.68158221G>T | CA381589681 | KMT5B | c.1912C>A (p.Leu638Ile) n.2477C>A c.*1749C>A (n.*1749C>A) c.*1792C>A (n.*1792C>A) c.1609C>A (p.Leu537Ile) c.*1333C>A (n.*1333C>A) c.2125C>A (p.Leu709Ile) c.1405C>A (p.Leu469Ile) c.2056C>A (p.Leu686Ile) c.883C>A (p.Leu295Ile) | COSMIC COSMIC |
11 | g.68158222G>A | CA475514847 | KMT5B | c.1911C>T (p.Ile637=) n.2476C>T c.*1748C>T (n.*1748C>T) c.*1791C>T (n.*1791C>T) c.1608C>T (p.Ile536=) c.*1332C>T (n.*1332C>T) c.2124C>T (p.Ile708=) c.1404C>T (p.Ile468=) c.2055C>T (p.Ile685=) c.882C>T (p.Ile294=) | gnomAD v4 |
11 | g.68158222G>C | CA381589686 | KMT5B | c.1911C>G (p.Ile637Met) n.2476C>G c.*1748C>G (n.*1748C>G) c.*1791C>G (n.*1791C>G) c.1608C>G (p.Ile536Met) c.*1332C>G (n.*1332C>G) c.2124C>G (p.Ile708Met) c.1404C>G (p.Ile468Met) c.2055C>G (p.Ile685Met) c.882C>G (p.Ile294Met) | gnomAD v4 |
11 | g.68158222G>T | CA475514848 | KMT5B | c.1911C>A (p.Ile637=) n.2476C>A c.*1748C>A (n.*1748C>A) c.*1791C>A (n.*1791C>A) c.1608C>A (p.Ile536=) c.*1332C>A (n.*1332C>A) c.2124C>A (p.Ile708=) c.1404C>A (p.Ile468=) c.2055C>A (p.Ile685=) c.882C>A (p.Ile294=) | |
11 | g.68158223A>C | CA381589691 | KMT5B | c.1910T>G (p.Ile637Ser) n.2475T>G c.*1747T>G (n.*1747T>G) c.*1790T>G (n.*1790T>G) c.1607T>G (p.Ile536Ser) c.*1331T>G (n.*1331T>G) c.2123T>G (p.Ile708Ser) c.1403T>G (p.Ile468Ser) c.2054T>G (p.Ile685Ser) c.881T>G (p.Ile294Ser) | |
11 | g.68158223A>G | CA381589693 | KMT5B | c.1910T>C (p.Ile637Thr) n.2475T>C c.*1747T>C (n.*1747T>C) c.*1790T>C (n.*1790T>C) c.1607T>C (p.Ile536Thr) c.*1331T>C (n.*1331T>C) c.2123T>C (p.Ile708Thr) c.1403T>C (p.Ile468Thr) c.2054T>C (p.Ile685Thr) c.881T>C (p.Ile294Thr) | |
11 | g.68158223A>T | CA381589696 | KMT5B | c.1910T>A (p.Ile637Asn) n.2475T>A c.*1747T>A (n.*1747T>A) c.*1790T>A (n.*1790T>A) c.1607T>A (p.Ile536Asn) c.*1331T>A (n.*1331T>A) c.2123T>A (p.Ile708Asn) c.1403T>A (p.Ile468Asn) c.2054T>A (p.Ile685Asn) c.881T>A (p.Ile294Asn) | |
11 | g.68158224T>A | CA381589707 | KMT5B | c.1909A>T (p.Ile637Phe) n.2474A>T c.*1746A>T (n.*1746A>T) c.*1789A>T (n.*1789A>T) c.1606A>T (p.Ile536Phe) c.*1330A>T (n.*1330A>T) c.2122A>T (p.Ile708Phe) c.1402A>T (p.Ile468Phe) c.2053A>T (p.Ile685Phe) c.880A>T (p.Ile294Phe) | |
11 | g.68158224T>C | CA381589703 | KMT5B | c.1909A>G (p.Ile637Val) n.2474A>G c.*1746A>G (n.*1746A>G) c.*1789A>G (n.*1789A>G) c.1606A>G (p.Ile536Val) c.*1330A>G (n.*1330A>G) c.2122A>G (p.Ile708Val) c.1402A>G (p.Ile468Val) c.2053A>G (p.Ile685Val) c.880A>G (p.Ile294Val) | |
11 | g.68158224T>G | CA381589699 | KMT5B | c.1909A>C (p.Ile637Leu) n.2474A>C c.*1746A>C (n.*1746A>C) c.*1789A>C (n.*1789A>C) c.1606A>C (p.Ile536Leu) c.*1330A>C (n.*1330A>C) c.2122A>C (p.Ile708Leu) c.1402A>C (p.Ile468Leu) c.2053A>C (p.Ile685Leu) c.880A>C (p.Ile294Leu) | |
11 | g.68158225T>A | CA381589709 | KMT5B | c.1908A>T (p.Leu636Phe) n.2473A>T c.*1745A>T (n.*1745A>T) c.*1788A>T (n.*1788A>T) c.1605A>T (p.Leu535Phe) c.*1329A>T (n.*1329A>T) c.2121A>T (p.Leu707Phe) c.1401A>T (p.Leu467Phe) c.2052A>T (p.Leu684Phe) c.879A>T (p.Leu293Phe) | COSMIC COSMIC |
11 | g.68158225T>C | CA475514852 | KMT5B | c.1908A>G (p.Leu636=) n.2473A>G c.*1745A>G (n.*1745A>G) c.*1788A>G (n.*1788A>G) c.1605A>G (p.Leu535=) c.*1329A>G (n.*1329A>G) c.2121A>G (p.Leu707=) c.1401A>G (p.Leu467=) c.2052A>G (p.Leu684=) c.879A>G (p.Leu293=) | |
11 | g.68158225T>G | CA381589712 | KMT5B | c.1908A>C (p.Leu636Phe) n.2473A>C c.*1745A>C (n.*1745A>C) c.*1788A>C (n.*1788A>C) c.1605A>C (p.Leu535Phe) c.*1329A>C (n.*1329A>C) c.2121A>C (p.Leu707Phe) c.1401A>C (p.Leu467Phe) c.2052A>C (p.Leu684Phe) c.879A>C (p.Leu293Phe) | |
11 | g.68158226A>C | CA381589717 | KMT5B | c.1907T>G (p.Leu636Ter) n.2472T>G c.*1744T>G (n.*1744T>G) c.*1787T>G (n.*1787T>G) c.1604T>G (p.Leu535Ter) c.*1328T>G (n.*1328T>G) c.2120T>G (p.Leu707Ter) c.1400T>G (p.Leu467Ter) c.2051T>G (p.Leu684Ter) c.878T>G (p.Leu293Ter) | |
11 | g.68158226A>G | CA381589719 | KMT5B | c.1907T>C (p.Leu636Ser) n.2472T>C c.*1744T>C (n.*1744T>C) c.*1787T>C (n.*1787T>C) c.1604T>C (p.Leu535Ser) c.*1328T>C (n.*1328T>C) c.2120T>C (p.Leu707Ser) c.1400T>C (p.Leu467Ser) c.2051T>C (p.Leu684Ser) c.878T>C (p.Leu293Ser) | |
11 | g.68158226A>T | CA381589726 | KMT5B | c.1907T>A (p.Leu636Ter) n.2472T>A c.*1744T>A (n.*1744T>A) c.*1787T>A (n.*1787T>A) c.1604T>A (p.Leu535Ter) c.*1328T>A (n.*1328T>A) c.2120T>A (p.Leu707Ter) c.1400T>A (p.Leu467Ter) c.2051T>A (p.Leu684Ter) c.878T>A (p.Leu293Ter) | |
11 | g.68158227A>C | CA381589729 | KMT5B | c.1906T>G (p.Leu636Val) n.2471T>G c.*1743T>G (n.*1743T>G) c.*1786T>G (n.*1786T>G) c.1603T>G (p.Leu535Val) c.*1327T>G (n.*1327T>G) c.2119T>G (p.Leu707Val) c.1399T>G (p.Leu467Val) c.2050T>G (p.Leu684Val) c.877T>G (p.Leu293Val) | |
11 | g.68158227A>G | CA475514853 | KMT5B | c.1906T>C (p.Leu636=) n.2471T>C c.*1743T>C (n.*1743T>C) c.*1786T>C (n.*1786T>C) c.1603T>C (p.Leu535=) c.*1327T>C (n.*1327T>C) c.2119T>C (p.Leu707=) c.1399T>C (p.Leu467=) c.2050T>C (p.Leu684=) c.877T>C (p.Leu293=) | |
11 | g.68158227A>T | CA381589731 | KMT5B | c.1906T>A (p.Leu636Ile) n.2471T>A c.*1743T>A (n.*1743T>A) c.*1786T>A (n.*1786T>A) c.1603T>A (p.Leu535Ile) c.*1327T>A (n.*1327T>A) c.2119T>A (p.Leu707Ile) c.1399T>A (p.Leu467Ile) c.2050T>A (p.Leu684Ile) c.877T>A (p.Leu293Ile) | |
11 | g.68158228C>A | CA381589735 | KMT5B | c.1905G>T (p.Gln635His) n.2470G>T c.*1742G>T (n.*1742G>T) c.*1785G>T (n.*1785G>T) c.1602G>T (p.Gln534His) c.*1326G>T (n.*1326G>T) c.2118G>T (p.Gln706His) c.1398G>T (p.Gln466His) c.2049G>T (p.Gln683His) c.876G>T (p.Gln292His) | |
11 | g.68158228C>G | CA381589736 | KMT5B | c.1905G>C (p.Gln635His) n.2470G>C c.*1742G>C (n.*1742G>C) c.*1785G>C (n.*1785G>C) c.1602G>C (p.Gln534His) c.*1326G>C (n.*1326G>C) c.2118G>C (p.Gln706His) c.1398G>C (p.Gln466His) c.2049G>C (p.Gln683His) c.876G>C (p.Gln292His) | |
11 | g.68158228C>T | CA475514854 | KMT5B | c.1905G>A (p.Gln635=) n.2470G>A c.*1742G>A (n.*1742G>A) c.*1785G>A (n.*1785G>A) c.1602G>A (p.Gln534=) c.*1326G>A (n.*1326G>A) c.2118G>A (p.Gln706=) c.1398G>A (p.Gln466=) c.2049G>A (p.Gln683=) c.876G>A (p.Gln292=) | |
11 | g.68158229T>A | CA381589741 | KMT5B | c.1904A>T (p.Gln635Leu) n.2469A>T c.*1741A>T (n.*1741A>T) c.*1784A>T (n.*1784A>T) c.1601A>T (p.Gln534Leu) c.*1325A>T (n.*1325A>T) c.2117A>T (p.Gln706Leu) c.1397A>T (p.Gln466Leu) c.2048A>T (p.Gln683Leu) c.875A>T (p.Gln292Leu) | |
11 | g.68158229T>C | CA381589747 | KMT5B | c.1904A>G (p.Gln635Arg) n.2469A>G c.*1741A>G (n.*1741A>G) c.*1784A>G (n.*1784A>G) c.1601A>G (p.Gln534Arg) c.*1325A>G (n.*1325A>G) c.2117A>G (p.Gln706Arg) c.1397A>G (p.Gln466Arg) c.2048A>G (p.Gln683Arg) c.875A>G (p.Gln292Arg) | |
11 | g.68158229T>G | CA381589767 | KMT5B | c.1904A>C (p.Gln635Pro) n.2469A>C c.*1741A>C (n.*1741A>C) c.*1784A>C (n.*1784A>C) c.1601A>C (p.Gln534Pro) c.*1325A>C (n.*1325A>C) c.2117A>C (p.Gln706Pro) c.1397A>C (p.Gln466Pro) c.2048A>C (p.Gln683Pro) c.875A>C (p.Gln292Pro) | |
11 | g.68158230G>A | CA381589779 | KMT5B | c.1903C>T (p.Gln635Ter) n.2468C>T c.*1740C>T (n.*1740C>T) c.*1783C>T (n.*1783C>T) c.1600C>T (p.Gln534Ter) c.*1324C>T (n.*1324C>T) c.2116C>T (p.Gln706Ter) c.1396C>T (p.Gln466Ter) c.2047C>T (p.Gln683Ter) c.874C>T (p.Gln292Ter) | |
11 | g.68158230G>C | CA381589776 | KMT5B | c.1903C>G (p.Gln635Glu) n.2468C>G c.*1740C>G (n.*1740C>G) c.*1783C>G (n.*1783C>G) c.1600C>G (p.Gln534Glu) c.*1324C>G (n.*1324C>G) c.2116C>G (p.Gln706Glu) c.1396C>G (p.Gln466Glu) c.2047C>G (p.Gln683Glu) c.874C>G (p.Gln292Glu) | |
11 | g.68158230G>T | CA381589772 | KMT5B | c.1903C>A (p.Gln635Lys) n.2468C>A c.*1740C>A (n.*1740C>A) c.*1783C>A (n.*1783C>A) c.1600C>A (p.Gln534Lys) c.*1324C>A (n.*1324C>A) c.2116C>A (p.Gln706Lys) c.1396C>A (p.Gln466Lys) c.2047C>A (p.Gln683Lys) c.874C>A (p.Gln292Lys) | |
11 | g.68158231T>A | CA475514858 | KMT5B | c.1902A>T (p.Ala634=) n.2467A>T c.*1739A>T (n.*1739A>T) c.*1782A>T (n.*1782A>T) c.1599A>T (p.Ala533=) c.*1323A>T (n.*1323A>T) c.2115A>T (p.Ala705=) c.1395A>T (p.Ala465=) c.2046A>T (p.Ala682=) c.873A>T (p.Ala291=) | |
11 | g.68158231T>C | CA475514856 | KMT5B | c.1902A>G (p.Ala634=) n.2467A>G c.*1739A>G (n.*1739A>G) c.*1782A>G (n.*1782A>G) c.1599A>G (p.Ala533=) c.*1323A>G (n.*1323A>G) c.2115A>G (p.Ala705=) c.1395A>G (p.Ala465=) c.2046A>G (p.Ala682=) c.873A>G (p.Ala291=) | gnomAD v4 |
11 | g.68158231T>G | CA475514855 | KMT5B | c.1902A>C (p.Ala634=) n.2467A>C c.*1739A>C (n.*1739A>C) c.*1782A>C (n.*1782A>C) c.1599A>C (p.Ala533=) c.*1323A>C (n.*1323A>C) c.2115A>C (p.Ala705=) c.1395A>C (p.Ala465=) c.2046A>C (p.Ala682=) c.873A>C (p.Ala291=) | |
11 | g.68158232G>A | CA381589783 | KMT5B | c.1901C>T (p.Ala634Val) n.2466C>T c.*1738C>T (n.*1738C>T) c.*1781C>T (n.*1781C>T) c.1598C>T (p.Ala533Val) c.*1322C>T (n.*1322C>T) c.2114C>T (p.Ala705Val) c.1394C>T (p.Ala465Val) c.2045C>T (p.Ala682Val) c.872C>T (p.Ala291Val) | dbSNP |
11 | g.68158232G>C | CA381589787 | KMT5B | c.1901C>G (p.Ala634Gly) n.2466C>G c.*1738C>G (n.*1738C>G) c.*1781C>G (n.*1781C>G) c.1598C>G (p.Ala533Gly) c.*1322C>G (n.*1322C>G) c.2114C>G (p.Ala705Gly) c.1394C>G (p.Ala465Gly) c.2045C>G (p.Ala682Gly) c.872C>G (p.Ala291Gly) | |
11 | g.68158232G= | CA1980500734 | KMT5B | c.1901C= (p.Ala634=) n.2466C= c.*1738C= (n.*1738C=) c.*1781C= (n.*1781C=) c.1598C= (p.Ala533=) c.*1322C= (n.*1322C=) c.2114C= (p.Ala705=) c.1394C= (p.Ala465=) c.2045C= (p.Ala682=) c.872C= (p.Ala291=) | |
11 | g.68158232G>T | CA381589785 | KMT5B | c.1901C>A (p.Ala634Glu) n.2466C>A c.*1738C>A (n.*1738C>A) c.*1781C>A (n.*1781C>A) c.1598C>A (p.Ala533Glu) c.*1322C>A (n.*1322C>A) c.2114C>A (p.Ala705Glu) c.1394C>A (p.Ala465Glu) c.2045C>A (p.Ala682Glu) c.872C>A (p.Ala291Glu) | |
11 | g.68158233C>A | CA381589804 | KMT5B | c.1900G>T (p.Ala634Ser) n.2465G>T c.*1737G>T (n.*1737G>T) c.*1780G>T (n.*1780G>T) c.1597G>T (p.Ala533Ser) c.*1321G>T (n.*1321G>T) c.2113G>T (p.Ala705Ser) c.1393G>T (p.Ala465Ser) c.2044G>T (p.Ala682Ser) c.871G>T (p.Ala291Ser) | |
11 | g.68158233C>G | CA381589805 | KMT5B | c.1900G>C (p.Ala634Pro) n.2465G>C c.*1737G>C (n.*1737G>C) c.*1780G>C (n.*1780G>C) c.1597G>C (p.Ala533Pro) c.*1321G>C (n.*1321G>C) c.2113G>C (p.Ala705Pro) c.1393G>C (p.Ala465Pro) c.2044G>C (p.Ala682Pro) c.871G>C (p.Ala291Pro) | |
11 | g.68158233C>T | CA381589808 | KMT5B | c.1900G>A (p.Ala634Thr) n.2465G>A c.*1737G>A (n.*1737G>A) c.*1780G>A (n.*1780G>A) c.1597G>A (p.Ala533Thr) c.*1321G>A (n.*1321G>A) c.2113G>A (p.Ala705Thr) c.1393G>A (p.Ala465Thr) c.2044G>A (p.Ala682Thr) c.871G>A (p.Ala291Thr) | |
11 | g.68158234A>C | CA381589811 | KMT5B | c.1899T>G (p.Asp633Glu) n.2464T>G c.*1736T>G (n.*1736T>G) c.*1779T>G (n.*1779T>G) c.1596T>G (p.Asp532Glu) c.*1320T>G (n.*1320T>G) c.2112T>G (p.Asp704Glu) c.1392T>G (p.Asp464Glu) c.2043T>G (p.Asp681Glu) c.870T>G (p.Asp290Glu) | |
11 | g.68158234A>G | CA475514860 | KMT5B | c.1899T>C (p.Asp633=) n.2464T>C c.*1736T>C (n.*1736T>C) c.*1779T>C (n.*1779T>C) c.1596T>C (p.Asp532=) c.*1320T>C (n.*1320T>C) c.2112T>C (p.Asp704=) c.1392T>C (p.Asp464=) c.2043T>C (p.Asp681=) c.870T>C (p.Asp290=) | dbSNP |
11 | g.68158234A>T | CA381589815 | KMT5B | c.1899T>A (p.Asp633Glu) n.2464T>A c.*1736T>A (n.*1736T>A) c.*1779T>A (n.*1779T>A) c.1596T>A (p.Asp532Glu) c.*1320T>A (n.*1320T>A) c.2112T>A (p.Asp704Glu) c.1392T>A (p.Asp464Glu) c.2043T>A (p.Asp681Glu) c.870T>A (p.Asp290Glu) | |
11 | g.68158235T>A | CA381589826 | KMT5B | c.1898A>T (p.Asp633Val) n.2463A>T c.*1735A>T (n.*1735A>T) c.*1778A>T (n.*1778A>T) c.1595A>T (p.Asp532Val) c.*1319A>T (n.*1319A>T) c.2111A>T (p.Asp704Val) c.1391A>T (p.Asp464Val) c.2042A>T (p.Asp681Val) c.869A>T (p.Asp290Val) | |
11 | g.68158235T>C | CA381589830 | KMT5B | c.1898A>G (p.Asp633Gly) n.2463A>G c.*1735A>G (n.*1735A>G) c.*1778A>G (n.*1778A>G) c.1595A>G (p.Asp532Gly) c.*1319A>G (n.*1319A>G) c.2111A>G (p.Asp704Gly) c.1391A>G (p.Asp464Gly) c.2042A>G (p.Asp681Gly) c.869A>G (p.Asp290Gly) | |
11 | g.68158235T>G | CA381589831 | KMT5B | c.1898A>C (p.Asp633Ala) n.2463A>C c.*1735A>C (n.*1735A>C) c.*1778A>C (n.*1778A>C) c.1595A>C (p.Asp532Ala) c.*1319A>C (n.*1319A>C) c.2111A>C (p.Asp704Ala) c.1391A>C (p.Asp464Ala) c.2042A>C (p.Asp681Ala) c.869A>C (p.Asp290Ala) | |
11 | g.68158236C>A | CA381589832 | KMT5B | c.1897G>T (p.Asp633Tyr) n.2462G>T c.*1734G>T (n.*1734G>T) c.*1777G>T (n.*1777G>T) c.1594G>T (p.Asp532Tyr) c.*1318G>T (n.*1318G>T) c.2110G>T (p.Asp704Tyr) c.1390G>T (p.Asp464Tyr) c.2041G>T (p.Asp681Tyr) c.868G>T (p.Asp290Tyr) | |
11 | g.68158236C>G | CA381589833 | KMT5B | c.1897G>C (p.Asp633His) n.2462G>C c.*1734G>C (n.*1734G>C) c.*1777G>C (n.*1777G>C) c.1594G>C (p.Asp532His) c.*1318G>C (n.*1318G>C) c.2110G>C (p.Asp704His) c.1390G>C (p.Asp464His) c.2041G>C (p.Asp681His) c.868G>C (p.Asp290His) | |
11 | g.68158236C>T | CA381589834 | KMT5B | c.1897G>A (p.Asp633Asn) n.2462G>A c.*1734G>A (n.*1734G>A) c.*1777G>A (n.*1777G>A) c.1594G>A (p.Asp532Asn) c.*1318G>A (n.*1318G>A) c.2110G>A (p.Asp704Asn) c.1390G>A (p.Asp464Asn) c.2041G>A (p.Asp681Asn) c.868G>A (p.Asp290Asn) |