Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.68158195T>ACA381589511KMT5Bc.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)
11g.68158195T>CCA475514812KMT5Bc.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
11g.68158195T>GCA381589514KMT5Bc.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)
11g.68158196T>ACA381589520KMT5Bc.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)
11g.68158196T>CCA381589522KMT5Bc.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
11g.68158196T>GCA381589517KMT5Bc.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)
11g.68158197T>ACA381589525KMT5Bc.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)
11g.68158197T>CCA381589529KMT5Bc.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)
11g.68158197T>GCA381589533KMT5Bc.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)
11g.68158198G>ACA475514816KMT5Bc.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
11g.68158198G>CCA475514817KMT5Bc.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=)
11g.68158198G>TCA475514818KMT5Bc.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=)
11g.68158199G>ACA381589536KMT5Bc.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)
11g.68158199G>CCA381589540KMT5Bc.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)
11g.68158199G>TCA381589543KMT5Bc.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)
11g.68158200G>ACA381589546KMT5Bc.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)
11g.68158200G>CCA381589550KMT5Bc.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)
11g.68158200G>TCA381589548KMT5Bc.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)
11g.68158201A>CCA381589553KMT5Bc.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)
11g.68158201A>GCA475514820KMT5Bc.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=)
11g.68158201A>TCA475514821KMT5Bc.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=)
11g.68158202A>CCA381589554KMT5Bc.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)
11g.68158202A>GCA381589555KMT5Bc.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)
11g.68158202A>TCA381589556KMT5Bc.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)
11g.68158203T>ACA381589561KMT5Bc.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)
11g.68158203T>CCA381589559KMT5Bc.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
11g.68158203T>GCA381589558KMT5Bc.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)
11g.68158203T=CA1980500680KMT5Bc.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=)
11g.68158204C>ACA475514823KMT5Bc.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=)
11g.68158204C=CA1980500684KMT5Bc.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=)
11g.68158204C>GCA475514824KMT5Bc.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=)
11g.68158204C>TCA6148049KMT5Bc.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
11g.68158205C>ACA381589567KMT5Bc.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)
11g.68158205C=CA1980500692KMT5Bc.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=)
11g.68158205C>GCA381589566KMT5Bc.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
11g.68158205C>TCA6148050KMT5Bc.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
11g.68158206C>ACA381589569KMT5Bc.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)
11g.68158206C>GCA381589571KMT5Bc.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)
11g.68158206C>TCA381589570KMT5Bc.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)
11g.68158207A=CA1980500698KMT5Bc.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=)
11g.68158207A>CCA475514829KMT5Bc.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=)
11g.68158207A>GCA475514831KMT5Bc.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
11g.68158207A>TCA475514830KMT5Bc.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=)
11g.68158208G>ACA381589574KMT5Bc.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)
11g.68158208G>CCA381589576KMT5Bc.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)
11g.68158208G>TCA381589578KMT5Bc.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)
11g.68158209A>CCA381589581KMT5Bc.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)
11g.68158209A>GCA381589584KMT5Bc.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)
11g.68158209A>TCA381589587KMT5Bc.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)
11g.68158210G>ACA6148051KMT5Bc.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
11g.68158210G>CCA381589590KMT5Bc.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
11g.68158210G=CA1980500703KMT5Bc.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=)
11g.68158210G>TCA381589597KMT5Bc.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
11g.68158211T>ACA381589600KMT5Bc.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)
11g.68158211T>CCA381589615KMT5Bc.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)
11g.68158211T>GCA381589618KMT5Bc.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)
11g.68158212T>ACA381589626KMT5Bc.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)
11g.68158212T>CCA381589621KMT5Bc.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)
11g.68158212T>GCA381589623KMT5Bc.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)
11g.68158213A=CA1980500708KMT5Bc.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=)
11g.68158213A>CCA381589628KMT5Bc.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)
11g.68158213A>GCA475514836KMT5Bc.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
11g.68158213A>TCA381589630KMT5Bc.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)
11g.68158214T>ACA381589633KMT5Bc.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)
11g.68158214T>CCA381589636KMT5Bc.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
11g.68158214T>GCA381589639KMT5Bc.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)
11g.68158214T=CA1980500712KMT5Bc.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=)
11g.68158215T>ACA381589644KMT5Bc.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)
11g.68158215T>CCA381589645KMT5Bc.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)
11g.68158215T>GCA381589648KMT5Bc.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)
11g.68158216T>ACA381589650KMT5Bc.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)
11g.68158216T>CCA475514839KMT5Bc.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=)
11g.68158216T>GCA381589652KMT5Bc.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)
11g.68158217T>ACA381589659KMT5Bc.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)
11g.68158217T>CCA381589658KMT5Bc.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
11g.68158217T>GCA381589655KMT5Bc.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)
11g.68158218C>ACA381589663KMT5Bc.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)
11g.68158218C>GCA381589665KMT5Bc.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)
11g.68158218C>TCA381589669KMT5Bc.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)
11g.68158219T>ACA475514840KMT5Bc.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=)
11g.68158219T>CCA475514841KMT5Bc.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=)
11g.68158219T>GCA475514842KMT5Bc.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=)
11g.68158220A>CCA381589673KMT5Bc.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)
11g.68158220A>GCA381589675KMT5Bc.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)
11g.68158220A>TCA381589676KMT5Bc.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)
11g.68158221G>ACA475514844KMT5Bc.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
11g.68158221G>CCA381589680KMT5Bc.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)
11g.68158221G=CA1980500729KMT5Bc.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=)
11g.68158221G>TCA381589681KMT5Bc.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
11g.68158222G>ACA475514847KMT5Bc.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
11g.68158222G>CCA381589686KMT5Bc.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
11g.68158222G>TCA475514848KMT5Bc.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=)
11g.68158223A>CCA381589691KMT5Bc.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)
11g.68158223A>GCA381589693KMT5Bc.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)
11g.68158223A>TCA381589696KMT5Bc.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)
11g.68158224T>ACA381589707KMT5Bc.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)
11g.68158224T>CCA381589703KMT5Bc.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)
11g.68158224T>GCA381589699KMT5Bc.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)
11g.68158225T>ACA381589709KMT5Bc.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
11g.68158225T>CCA475514852KMT5Bc.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=)
11g.68158225T>GCA381589712KMT5Bc.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)
11g.68158226A>CCA381589717KMT5Bc.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)
11g.68158226A>GCA381589719KMT5Bc.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)
11g.68158226A>TCA381589726KMT5Bc.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)
11g.68158227A>CCA381589729KMT5Bc.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)
11g.68158227A>GCA475514853KMT5Bc.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=)
11g.68158227A>TCA381589731KMT5Bc.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)
11g.68158228C>ACA381589735KMT5Bc.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)
11g.68158228C>GCA381589736KMT5Bc.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)
11g.68158228C>TCA475514854KMT5Bc.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=)
11g.68158229T>ACA381589741KMT5Bc.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)
11g.68158229T>CCA381589747KMT5Bc.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)
11g.68158229T>GCA381589767KMT5Bc.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)
11g.68158230G>ACA381589779KMT5Bc.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)
11g.68158230G>CCA381589776KMT5Bc.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)
11g.68158230G>TCA381589772KMT5Bc.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)
11g.68158231T>ACA475514858KMT5Bc.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=)
11g.68158231T>CCA475514856KMT5Bc.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
11g.68158231T>GCA475514855KMT5Bc.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=)
11g.68158232G>ACA381589783KMT5Bc.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
11g.68158232G>CCA381589787KMT5Bc.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)
11g.68158232G=CA1980500734KMT5Bc.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=)
11g.68158232G>TCA381589785KMT5Bc.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)
11g.68158233C>ACA381589804KMT5Bc.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)
11g.68158233C>GCA381589805KMT5Bc.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)
11g.68158233C>TCA381589808KMT5Bc.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)
11g.68158234A>CCA381589811KMT5Bc.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)
11g.68158234A>GCA475514860KMT5Bc.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
11g.68158234A>TCA381589815KMT5Bc.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)
11g.68158235T>ACA381589826KMT5Bc.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)
11g.68158235T>CCA381589830KMT5Bc.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)
11g.68158235T>GCA381589831KMT5Bc.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)
11g.68158236C>ACA381589832KMT5Bc.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)
11g.68158236C>GCA381589833KMT5Bc.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)
11g.68158236C>TCA381589834KMT5Bc.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)
11g.68158237A=CA1980500737KMT5Bc.1896T= (p.Tyr632=)
n.2461T=
c.*1733T= (n.*1733T=)
c.*1776T= (n.*1776T=)
c.1593T= (p.Tyr531=)
c.*1317T= (n.*1317T=)
c.2109T= (p.Tyr703=)
c.1389T= (p.Tyr463=)
c.2040T= (p.Tyr680=)
c.867T= (p.Tyr289=)
11g.68158237A>CCA381589850KMT5Bc.1896T>G (p.Tyr632Ter)
n.2461T>G
c.*1733T>G (n.*1733T>G)
c.*1776T>G (n.*1776T>G)
c.1593T>G (p.Tyr531Ter)
c.*1317T>G (n.*1317T>G)
c.2109T>G (p.Tyr703Ter)
c.1389T>G (p.Tyr463Ter)
c.2040T>G (p.Tyr680Ter)
c.867T>G (p.Tyr289Ter)
11g.68158237A>GCA6148052KMT5Bc.1896T>C (p.Tyr632=)
n.2461T>C
c.*1733T>C (n.*1733T>C)
c.*1776T>C (n.*1776T>C)
c.1593T>C (p.Tyr531=)
c.*1317T>C (n.*1317T>C)
c.2109T>C (p.Tyr703=)
c.1389T>C (p.Tyr463=)
c.2040T>C (p.Tyr680=)
c.867T>C (p.Tyr289=)
dbSNP ExAC gnomAD v3 gnomAD v4
11g.68158237A>TCA381589848KMT5Bc.1896T>A (p.Tyr632Ter)
n.2461T>A
c.*1733T>A (n.*1733T>A)
c.*1776T>A (n.*1776T>A)
c.1593T>A (p.Tyr531Ter)
c.*1317T>A (n.*1317T>A)
c.2109T>A (p.Tyr703Ter)
c.1389T>A (p.Tyr463Ter)
c.2040T>A (p.Tyr680Ter)
c.867T>A (p.Tyr289Ter)
11g.68158238T>ACA381589854KMT5Bc.1895A>T (p.Tyr632Phe)
n.2460A>T
c.*1732A>T (n.*1732A>T)
c.*1775A>T (n.*1775A>T)
c.1592A>T (p.Tyr531Phe)
c.*1316A>T (n.*1316A>T)
c.2108A>T (p.Tyr703Phe)
c.1388A>T (p.Tyr463Phe)
c.2039A>T (p.Tyr680Phe)
c.866A>T (p.Tyr289Phe)
11g.68158238T>CCA381589855KMT5Bc.1895A>G (p.Tyr632Cys)
n.2460A>G
c.*1732A>G (n.*1732A>G)
c.*1775A>G (n.*1775A>G)
c.1592A>G (p.Tyr531Cys)
c.*1316A>G (n.*1316A>G)
c.2108A>G (p.Tyr703Cys)
c.1388A>G (p.Tyr463Cys)
c.2039A>G (p.Tyr680Cys)
c.866A>G (p.Tyr289Cys)
11g.68158238T>GCA381589868KMT5Bc.1895A>C (p.Tyr632Ser)
n.2460A>C
c.*1732A>C (n.*1732A>C)
c.*1775A>C (n.*1775A>C)
c.1592A>C (p.Tyr531Ser)
c.*1316A>C (n.*1316A>C)
c.2108A>C (p.Tyr703Ser)
c.1388A>C (p.Tyr463Ser)
c.2039A>C (p.Tyr680Ser)
c.866A>C (p.Tyr289Ser)
11g.68158239A>CCA381589872KMT5Bc.1894T>G (p.Tyr632Asp)
n.2459T>G
c.*1731T>G (n.*1731T>G)
c.*1774T>G (n.*1774T>G)
c.1591T>G (p.Tyr531Asp)
c.*1315T>G (n.*1315T>G)
c.2107T>G (p.Tyr703Asp)
c.1387T>G (p.Tyr463Asp)
c.2038T>G (p.Tyr680Asp)
c.865T>G (p.Tyr289Asp)
11g.68158239A>GCA381589875KMT5Bc.1894T>C (p.Tyr632His)
n.2459T>C
c.*1731T>C (n.*1731T>C)
c.*1774T>C (n.*1774T>C)
c.1591T>C (p.Tyr531His)
c.*1315T>C (n.*1315T>C)
c.2107T>C (p.Tyr703His)
c.1387T>C (p.Tyr463His)
c.2038T>C (p.Tyr680His)
c.865T>C (p.Tyr289His)
11g.68158239A>TCA381589878KMT5Bc.1894T>A (p.Tyr632Asn)
n.2459T>A
c.*1731T>A (n.*1731T>A)
c.*1774T>A (n.*1774T>A)
c.1591T>A (p.Tyr531Asn)
c.*1315T>A (n.*1315T>A)
c.2107T>A (p.Tyr703Asn)
c.1387T>A (p.Tyr463Asn)
c.2038T>A (p.Tyr680Asn)
c.865T>A (p.Tyr289Asn)
11g.68158240C>ACA381589881KMT5Bc.1893G>T (p.Arg631Ser)
n.2458G>T
c.*1730G>T (n.*1730G>T)
c.*1773G>T (n.*1773G>T)
c.1590G>T (p.Arg530Ser)
c.*1314G>T (n.*1314G>T)
c.2106G>T (p.Arg702Ser)
c.1386G>T (p.Arg462Ser)
c.2037G>T (p.Arg679Ser)
c.864G>T (p.Arg288Ser)
11g.68158240C>GCA381589884KMT5Bc.1893G>C (p.Arg631Ser)
n.2458G>C
c.*1730G>C (n.*1730G>C)
c.*1773G>C (n.*1773G>C)
c.1590G>C (p.Arg530Ser)
c.*1314G>C (n.*1314G>C)
c.2106G>C (p.Arg702Ser)
c.1386G>C (p.Arg462Ser)
c.2037G>C (p.Arg679Ser)
c.864G>C (p.Arg288Ser)
11g.68158240C>TCA475514864KMT5Bc.1893G>A (p.Arg631=)
n.2458G>A
c.*1730G>A (n.*1730G>A)
c.*1773G>A (n.*1773G>A)
c.1590G>A (p.Arg530=)
c.*1314G>A (n.*1314G>A)
c.2106G>A (p.Arg702=)
c.1386G>A (p.Arg462=)
c.2037G>A (p.Arg679=)
c.864G>A (p.Arg288=)
11g.68158241C>ACA381589886KMT5Bc.1892G>T (p.Arg631Met)
n.2457G>T
c.*1729G>T (n.*1729G>T)
c.*1772G>T (n.*1772G>T)
c.1589G>T (p.Arg530Met)
c.*1313G>T (n.*1313G>T)
c.2105G>T (p.Arg702Met)
c.1385G>T (p.Arg462Met)
c.2036G>T (p.Arg679Met)
c.863G>T (p.Arg288Met)
11g.68158241C=CA1980500742KMT5Bc.1892G= (p.Arg631=)
n.2457G=
c.*1729G= (n.*1729G=)
c.*1772G= (n.*1772G=)
c.1589G= (p.Arg530=)
c.*1313G= (n.*1313G=)
c.2105G= (p.Arg702=)
c.1385G= (p.Arg462=)
c.2036G= (p.Arg679=)
c.863G= (p.Arg288=)
11g.68158241C>GCA381589888KMT5Bc.1892G>C (p.Arg631Thr)
n.2457G>C
c.*1729G>C (n.*1729G>C)
c.*1772G>C (n.*1772G>C)
c.1589G>C (p.Arg530Thr)
c.*1313G>C (n.*1313G>C)
c.2105G>C (p.Arg702Thr)
c.1385G>C (p.Arg462Thr)
c.2036G>C (p.Arg679Thr)
c.863G>C (p.Arg288Thr)
dbSNP gnomAD v2 gnomAD v4
11g.68158241C>TCA381589891KMT5Bc.1892G>A (p.Arg631Lys)
n.2457G>A
c.*1729G>A (n.*1729G>A)
c.*1772G>A (n.*1772G>A)
c.1589G>A (p.Arg530Lys)
c.*1313G>A (n.*1313G>A)
c.2105G>A (p.Arg702Lys)
c.1385G>A (p.Arg462Lys)
c.2036G>A (p.Arg679Lys)
c.863G>A (p.Arg288Lys)
11g.68158242T>ACA381589898KMT5Bc.1891A>T (p.Arg631Trp)
n.2456A>T
c.*1728A>T (n.*1728A>T)
c.*1771A>T (n.*1771A>T)
c.1588A>T (p.Arg530Trp)
c.*1312A>T (n.*1312A>T)
c.2104A>T (p.Arg702Trp)
c.1384A>T (p.Arg462Trp)
c.2035A>T (p.Arg679Trp)
c.862A>T (p.Arg288Trp)
11g.68158242T>CCA381589895KMT5Bc.1891A>G (p.Arg631Gly)
n.2456A>G
c.*1728A>G (n.*1728A>G)
c.*1771A>G (n.*1771A>G)
c.1588A>G (p.Arg530Gly)
c.*1312A>G (n.*1312A>G)
c.2104A>G (p.Arg702Gly)
c.1384A>G (p.Arg462Gly)
c.2035A>G (p.Arg679Gly)
c.862A>G (p.Arg288Gly)
dbSNP gnomAD v3 gnomAD v4
11g.68158242T>GCA475514865KMT5Bc.1891A>C (p.Arg631=)
n.2456A>C
c.*1728A>C (n.*1728A>C)
c.*1771A>C (n.*1771A>C)
c.1588A>C (p.Arg530=)
c.*1312A>C (n.*1312A>C)
c.2104A>C (p.Arg702=)
c.1384A>C (p.Arg462=)
c.2035A>C (p.Arg679=)
c.862A>C (p.Arg288=)
11g.68158242T=CA1980500752KMT5Bc.1891A= (p.Arg631=)
n.2456A=
c.*1728A= (n.*1728A=)
c.*1771A= (n.*1771A=)
c.1588A= (p.Arg530=)
c.*1312A= (n.*1312A=)
c.2104A= (p.Arg702=)
c.1384A= (p.Arg462=)
c.2035A= (p.Arg679=)
c.862A= (p.Arg288=)
11g.68158243T>ACA475514867KMT5Bc.1890A>T (p.Thr630=)
n.2455A>T
c.*1727A>T (n.*1727A>T)
c.*1770A>T (n.*1770A>T)
c.1587A>T (p.Thr529=)
c.*1311A>T (n.*1311A>T)
c.2103A>T (p.Thr701=)
c.1383A>T (p.Thr461=)
c.2034A>T (p.Thr678=)
c.861A>T (p.Thr287=)
11g.68158243T>CCA475514869KMT5Bc.1890A>G (p.Thr630=)
n.2455A>G
c.*1727A>G (n.*1727A>G)
c.*1770A>G (n.*1770A>G)
c.1587A>G (p.Thr529=)
c.*1311A>G (n.*1311A>G)
c.2103A>G (p.Thr701=)
c.1383A>G (p.Thr461=)
c.2034A>G (p.Thr678=)
c.861A>G (p.Thr287=)
11g.68158243T>GCA475514871KMT5Bc.1890A>C (p.Thr630=)
n.2455A>C
c.*1727A>C (n.*1727A>C)
c.*1770A>C (n.*1770A>C)
c.1587A>C (p.Thr529=)
c.*1311A>C (n.*1311A>C)
c.2103A>C (p.Thr701=)
c.1383A>C (p.Thr461=)
c.2034A>C (p.Thr678=)
c.861A>C (p.Thr287=)
11g.68158244G>ACA381589902KMT5Bc.1889C>T (p.Thr630Ile)
n.2454C>T
c.*1726C>T (n.*1726C>T)
c.*1769C>T (n.*1769C>T)
c.1586C>T (p.Thr529Ile)
c.*1310C>T (n.*1310C>T)
c.2102C>T (p.Thr701Ile)
c.1382C>T (p.Thr461Ile)
c.2033C>T (p.Thr678Ile)
c.860C>T (p.Thr287Ile)
11g.68158244G>CCA381589905KMT5Bc.1889C>G (p.Thr630Arg)
n.2454C>G
c.*1726C>G (n.*1726C>G)
c.*1769C>G (n.*1769C>G)
c.1586C>G (p.Thr529Arg)
c.*1310C>G (n.*1310C>G)
c.2102C>G (p.Thr701Arg)
c.1382C>G (p.Thr461Arg)
c.2033C>G (p.Thr678Arg)
c.860C>G (p.Thr287Arg)
11g.68158244G>TCA381589911KMT5Bc.1889C>A (p.Thr630Lys)
n.2454C>A
c.*1726C>A (n.*1726C>A)
c.*1769C>A (n.*1769C>A)
c.1586C>A (p.Thr529Lys)
c.*1310C>A (n.*1310C>A)
c.2102C>A (p.Thr701Lys)
c.1382C>A (p.Thr461Lys)
c.2033C>A (p.Thr678Lys)
c.860C>A (p.Thr287Lys)
11g.68158245T>ACA381589913KMT5Bc.1888A>T (p.Thr630Ser)
n.2453A>T
c.*1725A>T (n.*1725A>T)
c.*1768A>T (n.*1768A>T)
c.1585A>T (p.Thr529Ser)
c.*1309A>T (n.*1309A>T)
c.2101A>T (p.Thr701Ser)
c.1381A>T (p.Thr461Ser)
c.2032A>T (p.Thr678Ser)
c.859A>T (p.Thr287Ser)
11g.68158245T>CCA381589916KMT5Bc.1888A>G (p.Thr630Ala)
n.2453A>G
c.*1725A>G (n.*1725A>G)
c.*1768A>G (n.*1768A>G)
c.1585A>G (p.Thr529Ala)
c.*1309A>G (n.*1309A>G)
c.2101A>G (p.Thr701Ala)
c.1381A>G (p.Thr461Ala)
c.2032A>G (p.Thr678Ala)
c.859A>G (p.Thr287Ala)
11g.68158245T>GCA381589919KMT5Bc.1888A>C (p.Thr630Pro)
n.2453A>C
c.*1725A>C (n.*1725A>C)
c.*1768A>C (n.*1768A>C)
c.1585A>C (p.Thr529Pro)
c.*1309A>C (n.*1309A>C)
c.2101A>C (p.Thr701Pro)
c.1381A>C (p.Thr461Pro)
c.2032A>C (p.Thr678Pro)
c.859A>C (p.Thr287Pro)
11g.68158246G>ACA475514873KMT5Bc.1887C>T (p.Ile629=)
n.2452C>T
c.*1724C>T (n.*1724C>T)
c.*1767C>T (n.*1767C>T)
c.1584C>T (p.Ile528=)
c.*1308C>T (n.*1308C>T)
c.2100C>T (p.Ile700=)
c.1380C>T (p.Ile460=)
c.2031C>T (p.Ile677=)
c.858C>T (p.Ile286=)
11g.68158246G>CCA381589922KMT5Bc.1887C>G (p.Ile629Met)
n.2452C>G
c.*1724C>G (n.*1724C>G)
c.*1767C>G (n.*1767C>G)
c.1584C>G (p.Ile528Met)
c.*1308C>G (n.*1308C>G)
c.2100C>G (p.Ile700Met)
c.1380C>G (p.Ile460Met)
c.2031C>G (p.Ile677Met)
c.858C>G (p.Ile286Met)
11g.68158246G>TCA475514875KMT5Bc.1887C>A (p.Ile629=)
n.2452C>A
c.*1724C>A (n.*1724C>A)
c.*1767C>A (n.*1767C>A)
c.1584C>A (p.Ile528=)
c.*1308C>A (n.*1308C>A)
c.2100C>A (p.Ile700=)
c.1380C>A (p.Ile460=)
c.2031C>A (p.Ile677=)
c.858C>A (p.Ile286=)
11g.68158247A>CCA381589926KMT5Bc.1886T>G (p.Ile629Ser)
n.2451T>G
c.*1723T>G (n.*1723T>G)
c.*1766T>G (n.*1766T>G)
c.1583T>G (p.Ile528Ser)
c.*1307T>G (n.*1307T>G)
c.2099T>G (p.Ile700Ser)
c.1379T>G (p.Ile460Ser)
c.2030T>G (p.Ile677Ser)
c.857T>G (p.Ile286Ser)
11g.68158247A>GCA381589929KMT5Bc.1886T>C (p.Ile629Thr)
n.2451T>C
c.*1723T>C (n.*1723T>C)
c.*1766T>C (n.*1766T>C)
c.1583T>C (p.Ile528Thr)
c.*1307T>C (n.*1307T>C)
c.2099T>C (p.Ile700Thr)
c.1379T>C (p.Ile460Thr)
c.2030T>C (p.Ile677Thr)
c.857T>C (p.Ile286Thr)
11g.68158247A>TCA381589930KMT5Bc.1886T>A (p.Ile629Asn)
n.2451T>A
c.*1723T>A (n.*1723T>A)
c.*1766T>A (n.*1766T>A)
c.1583T>A (p.Ile528Asn)
c.*1307T>A (n.*1307T>A)
c.2099T>A (p.Ile700Asn)
c.1379T>A (p.Ile460Asn)
c.2030T>A (p.Ile677Asn)
c.857T>A (p.Ile286Asn)
11g.68158248T>ACA381589933KMT5Bc.1885A>T (p.Ile629Phe)
n.2450A>T
c.*1722A>T (n.*1722A>T)
c.*1765A>T (n.*1765A>T)
c.1582A>T (p.Ile528Phe)
c.*1306A>T (n.*1306A>T)
c.2098A>T (p.Ile700Phe)
c.1378A>T (p.Ile460Phe)
c.2029A>T (p.Ile677Phe)
c.856A>T (p.Ile286Phe)
11g.68158248T>CCA6148053KMT5Bc.1885A>G (p.Ile629Val)
n.2450A>G
c.*1722A>G (n.*1722A>G)
c.*1765A>G (n.*1765A>G)
c.1582A>G (p.Ile528Val)
c.*1306A>G (n.*1306A>G)
c.2098A>G (p.Ile700Val)
c.1378A>G (p.Ile460Val)
c.2029A>G (p.Ile677Val)
c.856A>G (p.Ile286Val)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.68158248T>GCA381589938KMT5Bc.1885A>C (p.Ile629Leu)
n.2450A>C
c.*1722A>C (n.*1722A>C)
c.*1765A>C (n.*1765A>C)
c.1582A>C (p.Ile528Leu)
c.*1306A>C (n.*1306A>C)
c.2098A>C (p.Ile700Leu)
c.1378A>C (p.Ile460Leu)
c.2029A>C (p.Ile677Leu)
c.856A>C (p.Ile286Leu)
11g.68158248T=CA1980500757KMT5Bc.1885A= (p.Ile629=)
n.2450A=
c.*1722A= (n.*1722A=)
c.*1765A= (n.*1765A=)
c.1582A= (p.Ile528=)
c.*1306A= (n.*1306A=)
c.2098A= (p.Ile700=)
c.1378A= (p.Ile460=)
c.2029A= (p.Ile677=)
c.856A= (p.Ile286=)
11g.68158249T>ACA475514879KMT5Bc.1884A>T (p.Arg628=)
n.2449A>T
c.*1721A>T (n.*1721A>T)
c.*1764A>T (n.*1764A>T)
c.1581A>T (p.Arg527=)
c.*1305A>T (n.*1305A>T)
c.2097A>T (p.Arg699=)
c.1377A>T (p.Arg459=)
c.2028A>T (p.Arg676=)
c.855A>T (p.Arg285=)
11g.68158249T>CCA475514878KMT5Bc.1884A>G (p.Arg628=)
n.2449A>G
c.*1721A>G (n.*1721A>G)
c.*1764A>G (n.*1764A>G)
c.1581A>G (p.Arg527=)
c.*1305A>G (n.*1305A>G)
c.2097A>G (p.Arg699=)
c.1377A>G (p.Arg459=)
c.2028A>G (p.Arg676=)
c.855A>G (p.Arg285=)
11g.68158249T>GCA475514877KMT5Bc.1884A>C (p.Arg628=)
n.2449A>C
c.*1721A>C (n.*1721A>C)
c.*1764A>C (n.*1764A>C)
c.1581A>C (p.Arg527=)
c.*1305A>C (n.*1305A>C)
c.2097A>C (p.Arg699=)
c.1377A>C (p.Arg459=)
c.2028A>C (p.Arg676=)
c.855A>C (p.Arg285=)
11g.68158250C>ACA381589944KMT5Bc.1883G>T (p.Arg628Leu)
n.2448G>T
c.*1720G>T (n.*1720G>T)
c.*1763G>T (n.*1763G>T)
c.1580G>T (p.Arg527Leu)
c.*1304G>T (n.*1304G>T)
c.2096G>T (p.Arg699Leu)
c.1376G>T (p.Arg459Leu)
c.2027G>T (p.Arg676Leu)
c.854G>T (p.Arg285Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68158250C=CA1980500763KMT5Bc.1883G= (p.Arg628=)
n.2448G=
c.*1720G= (n.*1720G=)
c.*1763G= (n.*1763G=)
c.1580G= (p.Arg527=)
c.*1304G= (n.*1304G=)
c.2096G= (p.Arg699=)
c.1376G= (p.Arg459=)
c.2027G= (p.Arg676=)
c.854G= (p.Arg285=)
11g.68158250C>GCA381589941KMT5Bc.1883G>C (p.Arg628Pro)
n.2448G>C
c.*1720G>C (n.*1720G>C)
c.*1763G>C (n.*1763G>C)
c.1580G>C (p.Arg527Pro)
c.*1304G>C (n.*1304G>C)
c.2096G>C (p.Arg699Pro)
c.1376G>C (p.Arg459Pro)
c.2027G>C (p.Arg676Pro)
c.854G>C (p.Arg285Pro)
11g.68158250C>TCA381589943KMT5Bc.1883G>A (p.Arg628Gln)
n.2448G>A
c.*1720G>A (n.*1720G>A)
c.*1763G>A (n.*1763G>A)
c.1580G>A (p.Arg527Gln)
c.*1304G>A (n.*1304G>A)
c.2096G>A (p.Arg699Gln)
c.1376G>A (p.Arg459Gln)
c.2027G>A (p.Arg676Gln)
c.854G>A (p.Arg285Gln)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68158251G>ACA381589947KMT5Bc.1882C>T (p.Arg628Ter)
n.2447C>T
c.*1719C>T (n.*1719C>T)
c.*1762C>T (n.*1762C>T)
c.1579C>T (p.Arg527Ter)
c.*1303C>T (n.*1303C>T)
c.2095C>T (p.Arg699Ter)
c.1375C>T (p.Arg459Ter)
c.2026C>T (p.Arg676Ter)
c.853C>T (p.Arg285Ter)
ClinVar COSMIC COSMIC
11g.68158251G>CCA381589948KMT5Bc.1882C>G (p.Arg628Gly)
n.2447C>G
c.*1719C>G (n.*1719C>G)
c.*1762C>G (n.*1762C>G)
c.1579C>G (p.Arg527Gly)
c.*1303C>G (n.*1303C>G)
c.2095C>G (p.Arg699Gly)
c.1375C>G (p.Arg459Gly)
c.2026C>G (p.Arg676Gly)
c.853C>G (p.Arg285Gly)
11g.68158251G>TCA475514880KMT5Bc.1882C>A (p.Arg628=)
n.2447C>A
c.*1719C>A (n.*1719C>A)
c.*1762C>A (n.*1762C>A)
c.1579C>A (p.Arg527=)
c.*1303C>A (n.*1303C>A)
c.2095C>A (p.Arg699=)
c.1375C>A (p.Arg459=)
c.2026C>A (p.Arg676=)
c.853C>A (p.Arg285=)
11g.68158252C>ACA381589956KMT5Bc.1881G>T (p.Arg627Ser)
n.2446G>T
c.*1718G>T (n.*1718G>T)
c.*1761G>T (n.*1761G>T)
c.1578G>T (p.Arg526Ser)
c.*1302G>T (n.*1302G>T)
c.2094G>T (p.Arg698Ser)
c.1374G>T (p.Arg458Ser)
c.2025G>T (p.Arg675Ser)
c.852G>T (p.Arg284Ser)
11g.68158252C=CA1980500768KMT5Bc.1881G= (p.Arg627=)
n.2446G=
c.*1718G= (n.*1718G=)
c.*1761G= (n.*1761G=)
c.1578G= (p.Arg526=)
c.*1302G= (n.*1302G=)
c.2094G= (p.Arg698=)
c.1374G= (p.Arg458=)
c.2025G= (p.Arg675=)
c.852G= (p.Arg284=)
11g.68158252C>GCA381589958KMT5Bc.1881G>C (p.Arg627Ser)
n.2446G>C
c.*1718G>C (n.*1718G>C)
c.*1761G>C (n.*1761G>C)
c.1578G>C (p.Arg526Ser)
c.*1302G>C (n.*1302G>C)
c.2094G>C (p.Arg698Ser)
c.1374G>C (p.Arg458Ser)
c.2025G>C (p.Arg675Ser)
c.852G>C (p.Arg284Ser)
11g.68158252C>TCA6148054KMT5Bc.1881G>A (p.Arg627=)
n.2446G>A
c.*1718G>A (n.*1718G>A)
c.*1761G>A (n.*1761G>A)
c.1578G>A (p.Arg526=)
c.*1302G>A (n.*1302G>A)
c.2094G>A (p.Arg698=)
c.1374G>A (p.Arg458=)
c.2025G>A (p.Arg675=)
c.852G>A (p.Arg284=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68158253_68158255delCA645596788KMT5Bc.1879_1881del (p.Arg627del)
n.2444_2446del
c.*1716_*1718del (n.*1716_*1718del)
c.*1759_*1761del (n.*1759_*1761del)
c.1576_1578del (p.Arg526del)
c.*1300_*1302del (n.*1300_*1302del)
c.2092_2094del (p.Arg698del)
c.1372_1374del (p.Arg458del)
c.2023_2025del (p.Arg675del)
c.850_852del (p.Arg284del)
COSMIC
11g.68158253C>ACA381589964KMT5Bc.1880G>T (p.Arg627Met)
n.2445G>T
c.*1717G>T (n.*1717G>T)
c.*1760G>T (n.*1760G>T)
c.1577G>T (p.Arg526Met)
c.*1301G>T (n.*1301G>T)
c.2093G>T (p.Arg698Met)
c.1373G>T (p.Arg458Met)
c.2024G>T (p.Arg675Met)
c.851G>T (p.Arg284Met)
11g.68158253C>GCA381589968KMT5Bc.1880G>C (p.Arg627Thr)
n.2445G>C
c.*1717G>C (n.*1717G>C)
c.*1760G>C (n.*1760G>C)
c.1577G>C (p.Arg526Thr)
c.*1301G>C (n.*1301G>C)
c.2093G>C (p.Arg698Thr)
c.1373G>C (p.Arg458Thr)
c.2024G>C (p.Arg675Thr)
c.851G>C (p.Arg284Thr)
11g.68158253C>TCA381589971KMT5Bc.1880G>A (p.Arg627Lys)
n.2445G>A
c.*1717G>A (n.*1717G>A)
c.*1760G>A (n.*1760G>A)
c.1577G>A (p.Arg526Lys)
c.*1301G>A (n.*1301G>A)
c.2093G>A (p.Arg698Lys)
c.1373G>A (p.Arg458Lys)
c.2024G>A (p.Arg675Lys)
c.851G>A (p.Arg284Lys)
11g.68158253_68158256delinsCTCTCA1980500775KMT5Bc.1877_1880delinsAGAG (p.Lys626=)
n.2442_2445delinsAGAG
c.*1714_*1717delinsAGAG (n.*1714_*1717delinsAGAG)
c.*1757_*1760delinsAGAG (n.*1757_*1760delinsAGAG)
c.1574_1577delinsAGAG (p.Lys525=)
c.*1298_*1301delinsAGAG (n.*1298_*1301delinsAGAG)
c.2090_2093delinsAGAG (p.Lys697=)
c.1370_1373delinsAGAG (p.Lys457=)
c.2021_2024delinsAGAG (p.Lys674=)
c.848_851delinsAGAG (p.Lys283=)
11g.68158254T>ACA381589976KMT5Bc.1879A>T (p.Arg627Trp)
n.2444A>T
c.*1716A>T (n.*1716A>T)
c.*1759A>T (n.*1759A>T)
c.1576A>T (p.Arg526Trp)
c.*1300A>T (n.*1300A>T)
c.2092A>T (p.Arg698Trp)
c.1372A>T (p.Arg458Trp)
c.2023A>T (p.Arg675Trp)
c.850A>T (p.Arg284Trp)
11g.68158254T>CCA381589980KMT5Bc.1879A>G (p.Arg627Gly)
n.2444A>G
c.*1716A>G (n.*1716A>G)
c.*1759A>G (n.*1759A>G)
c.1576A>G (p.Arg526Gly)
c.*1300A>G (n.*1300A>G)
c.2092A>G (p.Arg698Gly)
c.1372A>G (p.Arg458Gly)
c.2023A>G (p.Arg675Gly)
c.850A>G (p.Arg284Gly)
11g.68158254T>GCA475514882KMT5Bc.1879A>C (p.Arg627=)
n.2444A>C
c.*1716A>C (n.*1716A>C)
c.*1759A>C (n.*1759A>C)
c.1576A>C (p.Arg526=)
c.*1300A>C (n.*1300A>C)
c.2092A>C (p.Arg698=)
c.1372A>C (p.Arg458=)
c.2023A>C (p.Arg675=)
c.850A>C (p.Arg284=)
11g.68158258_68158260delCA6148055KMT5Bc.1877_1879del (p.Lys626del)
n.2442_2444del
c.*1714_*1716del (n.*1714_*1716del)
c.*1757_*1759del (n.*1757_*1759del)
c.1574_1576del (p.Lys525del)
c.*1298_*1300del (n.*1298_*1300del)
c.2090_2092del (p.Lys697del)
c.1370_1372del (p.Lys457del)
c.2021_2023del (p.Lys674del)
c.848_850del (p.Lys283del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
11g.68158255C>ACA381589986KMT5Bc.1878G>T (p.Lys626Asn)
n.2443G>T
c.*1715G>T (n.*1715G>T)
c.*1758G>T (n.*1758G>T)
c.1575G>T (p.Lys525Asn)
c.*1299G>T (n.*1299G>T)
c.2091G>T (p.Lys697Asn)
c.1371G>T (p.Lys457Asn)
c.2022G>T (p.Lys674Asn)
c.849G>T (p.Lys283Asn)
11g.68158255C=CA1980500784KMT5Bc.1878G= (p.Lys626=)
n.2443G=
c.*1715G= (n.*1715G=)
c.*1758G= (n.*1758G=)
c.1575G= (p.Lys525=)
c.*1299G= (n.*1299G=)
c.2091G= (p.Lys697=)
c.1371G= (p.Lys457=)
c.2022G= (p.Lys674=)
c.849G= (p.Lys283=)
11g.68158255C>GCA381589990KMT5Bc.1878G>C (p.Lys626Asn)
n.2443G>C
c.*1715G>C (n.*1715G>C)
c.*1758G>C (n.*1758G>C)
c.1575G>C (p.Lys525Asn)
c.*1299G>C (n.*1299G>C)
c.2091G>C (p.Lys697Asn)
c.1371G>C (p.Lys457Asn)
c.2022G>C (p.Lys674Asn)
c.849G>C (p.Lys283Asn)
dbSNP gnomAD v2 gnomAD v4
11g.68158255C>TCA475514884KMT5Bc.1878G>A (p.Lys626=)
n.2443G>A
c.*1715G>A (n.*1715G>A)
c.*1758G>A (n.*1758G>A)
c.1575G>A (p.Lys525=)
c.*1299G>A (n.*1299G>A)
c.2091G>A (p.Lys697=)
c.1371G>A (p.Lys457=)
c.2022G>A (p.Lys674=)
c.849G>A (p.Lys283=)
11g.68158256T>ACA381589996KMT5Bc.1877A>T (p.Lys626Met)
n.2442A>T
c.*1714A>T (n.*1714A>T)
c.*1757A>T (n.*1757A>T)
c.1574A>T (p.Lys525Met)
c.*1298A>T (n.*1298A>T)
c.2090A>T (p.Lys697Met)
c.1370A>T (p.Lys457Met)
c.2021A>T (p.Lys674Met)
c.848A>T (p.Lys283Met)
11g.68158256T>CCA381590004KMT5Bc.1877A>G (p.Lys626Arg)
n.2442A>G
c.*1714A>G (n.*1714A>G)
c.*1757A>G (n.*1757A>G)
c.1574A>G (p.Lys525Arg)
c.*1298A>G (n.*1298A>G)
c.2090A>G (p.Lys697Arg)
c.1370A>G (p.Lys457Arg)
c.2021A>G (p.Lys674Arg)
c.848A>G (p.Lys283Arg)
11g.68158256T>GCA381589993KMT5Bc.1877A>C (p.Lys626Thr)
n.2442A>C
c.*1714A>C (n.*1714A>C)
c.*1757A>C (n.*1757A>C)
c.1574A>C (p.Lys525Thr)
c.*1298A>C (n.*1298A>C)
c.2090A>C (p.Lys697Thr)
c.1370A>C (p.Lys457Thr)
c.2021A>C (p.Lys674Thr)
c.848A>C (p.Lys283Thr)
11g.68158257T>ACA381590013KMT5Bc.1876A>T (p.Lys626Ter)
n.2441A>T
c.*1713A>T (n.*1713A>T)
c.*1756A>T (n.*1756A>T)
c.1573A>T (p.Lys525Ter)
c.*1297A>T (n.*1297A>T)
c.2089A>T (p.Lys697Ter)
c.1369A>T (p.Lys457Ter)
c.2020A>T (p.Lys674Ter)
c.847A>T (p.Lys283Ter)
11g.68158257T>CCA381590006KMT5Bc.1876A>G (p.Lys626Glu)
n.2441A>G
c.*1713A>G (n.*1713A>G)
c.*1756A>G (n.*1756A>G)
c.1573A>G (p.Lys525Glu)
c.*1297A>G (n.*1297A>G)
c.2089A>G (p.Lys697Glu)
c.1369A>G (p.Lys457Glu)
c.2020A>G (p.Lys674Glu)
c.847A>G (p.Lys283Glu)
11g.68158257T>GCA381590010KMT5Bc.1876A>C (p.Lys626Gln)
n.2441A>C
c.*1713A>C (n.*1713A>C)
c.*1756A>C (n.*1756A>C)
c.1573A>C (p.Lys525Gln)
c.*1297A>C (n.*1297A>C)
c.2089A>C (p.Lys697Gln)
c.1369A>C (p.Lys457Gln)
c.2020A>C (p.Lys674Gln)
c.847A>C (p.Lys283Gln)
11g.68158258C>ACA381590015KMT5Bc.1875G>T (p.Lys625Asn)
n.2440G>T
c.*1712G>T (n.*1712G>T)
c.*1755G>T (n.*1755G>T)
c.1572G>T (p.Lys524Asn)
c.*1296G>T (n.*1296G>T)
c.2088G>T (p.Lys696Asn)
c.1368G>T (p.Lys456Asn)
c.2019G>T (p.Lys673Asn)
c.846G>T (p.Lys282Asn)
11g.68158258C=CA1980500787KMT5Bc.1875G= (p.Lys625=)
n.2440G=
c.*1712G= (n.*1712G=)
c.*1755G= (n.*1755G=)
c.1572G= (p.Lys524=)
c.*1296G= (n.*1296G=)
c.2088G= (p.Lys696=)
c.1368G= (p.Lys456=)
c.2019G= (p.Lys673=)
c.846G= (p.Lys282=)
11g.68158258C>GCA381590019KMT5Bc.1875G>C (p.Lys625Asn)
n.2440G>C
c.*1712G>C (n.*1712G>C)
c.*1755G>C (n.*1755G>C)
c.1572G>C (p.Lys524Asn)
c.*1296G>C (n.*1296G>C)
c.2088G>C (p.Lys696Asn)
c.1368G>C (p.Lys456Asn)
c.2019G>C (p.Lys673Asn)
c.846G>C (p.Lys282Asn)
11g.68158258C>TCA6148056KMT5Bc.1875G>A (p.Lys625=)
n.2440G>A
c.*1712G>A (n.*1712G>A)
c.*1755G>A (n.*1755G>A)
c.1572G>A (p.Lys524=)
c.*1296G>A (n.*1296G>A)
c.2088G>A (p.Lys696=)
c.1368G>A (p.Lys456=)
c.2019G>A (p.Lys673=)
c.846G>A (p.Lys282=)
dbSNP ExAC
11g.68158258_68158261delinsCTTTCA1980500792KMT5Bc.1872_1875delinsAAAG (p.Lys624=)
n.2437_2440delinsAAAG
c.*1709_*1712delinsAAAG (n.*1709_*1712delinsAAAG)
c.*1752_*1755delinsAAAG (n.*1752_*1755delinsAAAG)
c.1569_1572delinsAAAG (p.Lys523=)
c.*1293_*1296delinsAAAG (n.*1293_*1296delinsAAAG)
c.2085_2088delinsAAAG (p.Lys695=)
c.1365_1368delinsAAAG (p.Lys455=)
c.2016_2019delinsAAAG (p.Lys672=)
c.843_846delinsAAAG (p.Lys281=)
11g.68158259T>ACA381590023KMT5Bc.1874A>T (p.Lys625Met)
n.2439A>T
c.*1711A>T (n.*1711A>T)
c.*1754A>T (n.*1754A>T)
c.1571A>T (p.Lys524Met)
c.*1295A>T (n.*1295A>T)
c.2087A>T (p.Lys696Met)
c.1367A>T (p.Lys456Met)
c.2018A>T (p.Lys673Met)
c.845A>T (p.Lys282Met)
11g.68158259T>CCA381590026KMT5Bc.1874A>G (p.Lys625Arg)
n.2439A>G
c.*1711A>G (n.*1711A>G)
c.*1754A>G (n.*1754A>G)
c.1571A>G (p.Lys524Arg)
c.*1295A>G (n.*1295A>G)
c.2087A>G (p.Lys696Arg)
c.1367A>G (p.Lys456Arg)
c.2018A>G (p.Lys673Arg)
c.845A>G (p.Lys282Arg)
gnomAD v4
11g.68158259T>GCA381590034KMT5Bc.1874A>C (p.Lys625Thr)
n.2439A>C
c.*1711A>C (n.*1711A>C)
c.*1754A>C (n.*1754A>C)
c.1571A>C (p.Lys524Thr)
c.*1295A>C (n.*1295A>C)
c.2087A>C (p.Lys696Thr)
c.1367A>C (p.Lys456Thr)
c.2018A>C (p.Lys673Thr)
c.845A>C (p.Lys282Thr)
11g.68158263delCA2574900139KMT5Bc.1874del (p.Lys625ArgfsTer12)
n.2439del
c.*1711del (n.*1711del)
c.*1754del (n.*1754del)
c.1571del (p.Lys524ArgfsTer12)
c.*1295del (n.*1295del)
c.2087del (p.Lys696ArgfsTer12)
c.1367del (p.Lys456ArgfsTer12)
c.2018del (p.Lys673ArgfsTer12)
c.845del (p.Lys282ArgfsTer12)
11g.68158261_68158263delCA679570362KMT5Bc.1872_1874del (p.Lys625del)
n.2437_2439del
c.*1709_*1711del (n.*1709_*1711del)
c.*1752_*1754del (n.*1752_*1754del)
c.1569_1571del (p.Lys524del)
c.*1293_*1295del (n.*1293_*1295del)
c.2085_2087del (p.Lys696del)
c.1365_1367del (p.Lys456del)
c.2016_2018del (p.Lys673del)
c.843_845del (p.Lys282del)
dbSNP gnomAD v3 gnomAD v4
11g.68158259_68158260insACA475514887KMT5Bc.1873_1874insT (p.Lys625IlefsTer9)
n.2438_2439insT
c.*1710_*1711insT (n.*1710_*1711insT)
c.*1753_*1754insT (n.*1753_*1754insT)
c.1570_1571insT (p.Lys524IlefsTer9)
c.*1294_*1295insT (n.*1294_*1295insT)
c.2086_2087insT (p.Lys696IlefsTer9)
c.1366_1367insT (p.Lys456IlefsTer9)
c.2017_2018insT (p.Lys673IlefsTer9)
c.844_845insT (p.Lys282IlefsTer9)
11g.68158260T>ACA381590037KMT5Bc.1873A>T (p.Lys625Ter)
n.2438A>T
c.*1710A>T (n.*1710A>T)
c.*1753A>T (n.*1753A>T)
c.1570A>T (p.Lys524Ter)
c.*1294A>T (n.*1294A>T)
c.2086A>T (p.Lys696Ter)
c.1366A>T (p.Lys456Ter)
c.2017A>T (p.Lys673Ter)
c.844A>T (p.Lys282Ter)
11g.68158260T>CCA381590041KMT5Bc.1873A>G (p.Lys625Glu)
n.2438A>G
c.*1710A>G (n.*1710A>G)
c.*1753A>G (n.*1753A>G)
c.1570A>G (p.Lys524Glu)
c.*1294A>G (n.*1294A>G)
c.2086A>G (p.Lys696Glu)
c.1366A>G (p.Lys456Glu)
c.2017A>G (p.Lys673Glu)
c.844A>G (p.Lys282Glu)
11g.68158260T>GCA381590044KMT5Bc.1873A>C (p.Lys625Gln)
n.2438A>C
c.*1710A>C (n.*1710A>C)
c.*1753A>C (n.*1753A>C)
c.1570A>C (p.Lys524Gln)
c.*1294A>C (n.*1294A>C)
c.2086A>C (p.Lys696Gln)
c.1366A>C (p.Lys456Gln)
c.2017A>C (p.Lys673Gln)
c.844A>C (p.Lys282Gln)
11g.68158261T>ACA381590046KMT5Bc.1872A>T (p.Lys624Asn)
n.2437A>T
c.*1709A>T (n.*1709A>T)
c.*1752A>T (n.*1752A>T)
c.1569A>T (p.Lys523Asn)
c.*1293A>T (n.*1293A>T)
c.2085A>T (p.Lys695Asn)
c.1365A>T (p.Lys455Asn)
c.2016A>T (p.Lys672Asn)
c.843A>T (p.Lys281Asn)
11g.68158261T>CCA475514888KMT5Bc.1872A>G (p.Lys624=)
n.2437A>G
c.*1709A>G (n.*1709A>G)
c.*1752A>G (n.*1752A>G)
c.1569A>G (p.Lys523=)
c.*1293A>G (n.*1293A>G)
c.2085A>G (p.Lys695=)
c.1365A>G (p.Lys455=)
c.2016A>G (p.Lys672=)
c.843A>G (p.Lys281=)
11g.68158261T>GCA381590049KMT5Bc.1872A>C (p.Lys624Asn)
n.2437A>C
c.*1709A>C (n.*1709A>C)
c.*1752A>C (n.*1752A>C)
c.1569A>C (p.Lys523Asn)
c.*1293A>C (n.*1293A>C)
c.2085A>C (p.Lys695Asn)
c.1365A>C (p.Lys455Asn)
c.2016A>C (p.Lys672Asn)
c.843A>C (p.Lys281Asn)
11g.68158262T>ACA381590059KMT5Bc.1871A>T (p.Lys624Ile)
n.2436A>T
c.*1708A>T (n.*1708A>T)
c.*1751A>T (n.*1751A>T)
c.1568A>T (p.Lys523Ile)
c.*1292A>T (n.*1292A>T)
c.2084A>T (p.Lys695Ile)
c.1364A>T (p.Lys455Ile)
c.2015A>T (p.Lys672Ile)
c.842A>T (p.Lys281Ile)
11g.68158262T>CCA381590056KMT5Bc.1871A>G (p.Lys624Arg)
n.2436A>G
c.*1708A>G (n.*1708A>G)
c.*1751A>G (n.*1751A>G)
c.1568A>G (p.Lys523Arg)
c.*1292A>G (n.*1292A>G)
c.2084A>G (p.Lys695Arg)
c.1364A>G (p.Lys455Arg)
c.2015A>G (p.Lys672Arg)
c.842A>G (p.Lys281Arg)
gnomAD v4
11g.68158262T>GCA381590053KMT5Bc.1871A>C (p.Lys624Thr)
n.2436A>C
c.*1708A>C (n.*1708A>C)
c.*1751A>C (n.*1751A>C)
c.1568A>C (p.Lys523Thr)
c.*1292A>C (n.*1292A>C)
c.2084A>C (p.Lys695Thr)
c.1364A>C (p.Lys455Thr)
c.2015A>C (p.Lys672Thr)
c.842A>C (p.Lys281Thr)
11g.68158263T>ACA381590062KMT5Bc.1870A>T (p.Lys624Ter)
n.2435A>T
c.*1707A>T (n.*1707A>T)
c.*1750A>T (n.*1750A>T)
c.1567A>T (p.Lys523Ter)
c.*1291A>T (n.*1291A>T)
c.2083A>T (p.Lys695Ter)
c.1363A>T (p.Lys455Ter)
c.2014A>T (p.Lys672Ter)
c.841A>T (p.Lys281Ter)
11g.68158263T>CCA6148057KMT5Bc.1870A>G (p.Lys624Glu)
n.2435A>G
c.*1707A>G (n.*1707A>G)
c.*1750A>G (n.*1750A>G)
c.1567A>G (p.Lys523Glu)
c.*1291A>G (n.*1291A>G)
c.2083A>G (p.Lys695Glu)
c.1363A>G (p.Lys455Glu)
c.2014A>G (p.Lys672Glu)
c.841A>G (p.Lys281Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.68158263T>GCA381590069KMT5Bc.1870A>C (p.Lys624Gln)
n.2435A>C
c.*1707A>C (n.*1707A>C)
c.*1750A>C (n.*1750A>C)
c.1567A>C (p.Lys523Gln)
c.*1291A>C (n.*1291A>C)
c.2083A>C (p.Lys695Gln)
c.1363A>C (p.Lys455Gln)
c.2014A>C (p.Lys672Gln)
c.841A>C (p.Lys281Gln)
11g.68158263T=CA1980500799KMT5Bc.1870A= (p.Lys624=)
n.2435A=
c.*1707A= (n.*1707A=)
c.*1750A= (n.*1750A=)
c.1567A= (p.Lys523=)
c.*1291A= (n.*1291A=)
c.2083A= (p.Lys695=)
c.1363A= (p.Lys455=)
c.2014A= (p.Lys672=)
c.841A= (p.Lys281=)
11g.68158264A>CCA381590075KMT5Bc.1869T>G (p.Ser623Arg)
n.2434T>G
c.*1706T>G (n.*1706T>G)
c.*1749T>G (n.*1749T>G)
c.1566T>G (p.Ser522Arg)
c.*1290T>G (n.*1290T>G)
c.2082T>G (p.Ser694Arg)
c.1362T>G (p.Ser454Arg)
c.2013T>G (p.Ser671Arg)
c.840T>G (p.Ser280Arg)
gnomAD v4
11g.68158264A>GCA475514893KMT5Bc.1869T>C (p.Ser623=)
n.2434T>C
c.*1706T>C (n.*1706T>C)
c.*1749T>C (n.*1749T>C)
c.1566T>C (p.Ser522=)
c.*1290T>C (n.*1290T>C)
c.2082T>C (p.Ser694=)
c.1362T>C (p.Ser454=)
c.2013T>C (p.Ser671=)
c.840T>C (p.Ser280=)
11g.68158264A>TCA381590078KMT5Bc.1869T>A (p.Ser623Arg)
n.2434T>A
c.*1706T>A (n.*1706T>A)
c.*1749T>A (n.*1749T>A)
c.1566T>A (p.Ser522Arg)
c.*1290T>A (n.*1290T>A)
c.2082T>A (p.Ser694Arg)
c.1362T>A (p.Ser454Arg)
c.2013T>A (p.Ser671Arg)
c.840T>A (p.Ser280Arg)
11g.68158265C>ACA381590081KMT5Bc.1868G>T (p.Ser623Ile)
n.2433G>T
c.*1705G>T (n.*1705G>T)
c.*1748G>T (n.*1748G>T)
c.1565G>T (p.Ser522Ile)
c.*1289G>T (n.*1289G>T)
c.2081G>T (p.Ser694Ile)
c.1361G>T (p.Ser454Ile)
c.2012G>T (p.Ser671Ile)
c.839G>T (p.Ser280Ile)
11g.68158265C=CA1980500802KMT5Bc.1868G= (p.Ser623=)
n.2433G=
c.*1705G= (n.*1705G=)
c.*1748G= (n.*1748G=)
c.1565G= (p.Ser522=)
c.*1289G= (n.*1289G=)
c.2081G= (p.Ser694=)
c.1361G= (p.Ser454=)
c.2012G= (p.Ser671=)
c.839G= (p.Ser280=)
11g.68158265C>GCA381590087KMT5Bc.1868G>C (p.Ser623Thr)
n.2433G>C
c.*1705G>C (n.*1705G>C)
c.*1748G>C (n.*1748G>C)
c.1565G>C (p.Ser522Thr)
c.*1289G>C (n.*1289G>C)
c.2081G>C (p.Ser694Thr)
c.1361G>C (p.Ser454Thr)
c.2012G>C (p.Ser671Thr)
c.839G>C (p.Ser280Thr)
dbSNP gnomAD v3 gnomAD v4
11g.68158265C>TCA6148058KMT5Bc.1868G>A (p.Ser623Asn)
n.2433G>A
c.*1705G>A (n.*1705G>A)
c.*1748G>A (n.*1748G>A)
c.1565G>A (p.Ser522Asn)
c.*1289G>A (n.*1289G>A)
c.2081G>A (p.Ser694Asn)
c.1361G>A (p.Ser454Asn)
c.2012G>A (p.Ser671Asn)
c.839G>A (p.Ser280Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68158266T>ACA381590094KMT5Bc.1867A>T (p.Ser623Cys)
n.2432A>T
c.*1704A>T (n.*1704A>T)
c.*1747A>T (n.*1747A>T)
c.1564A>T (p.Ser522Cys)
c.*1288A>T (n.*1288A>T)
c.2080A>T (p.Ser694Cys)
c.1360A>T (p.Ser454Cys)
c.2011A>T (p.Ser671Cys)
c.838A>T (p.Ser280Cys)
11g.68158266T>CCA381590097KMT5Bc.1867A>G (p.Ser623Gly)
n.2432A>G
c.*1704A>G (n.*1704A>G)
c.*1747A>G (n.*1747A>G)
c.1564A>G (p.Ser522Gly)
c.*1288A>G (n.*1288A>G)
c.2080A>G (p.Ser694Gly)
c.1360A>G (p.Ser454Gly)
c.2011A>G (p.Ser671Gly)
c.838A>G (p.Ser280Gly)
11g.68158266T>GCA381590098KMT5Bc.1867A>C (p.Ser623Arg)
n.2432A>C
c.*1704A>C (n.*1704A>C)
c.*1747A>C (n.*1747A>C)
c.1564A>C (p.Ser522Arg)
c.*1288A>C (n.*1288A>C)
c.2080A>C (p.Ser694Arg)
c.1360A>C (p.Ser454Arg)
c.2011A>C (p.Ser671Arg)
c.838A>C (p.Ser280Arg)
11g.68158267T>ACA381590101KMT5Bc.1866A>T (p.Lys622Asn)
n.2431A>T
c.*1703A>T (n.*1703A>T)
c.*1746A>T (n.*1746A>T)
c.1563A>T (p.Lys521Asn)
c.*1287A>T (n.*1287A>T)
c.2079A>T (p.Lys693Asn)
c.1359A>T (p.Lys453Asn)
c.2010A>T (p.Lys670Asn)
c.837A>T (p.Lys279Asn)
11g.68158267T>CCA224248432KMT5Bc.1866A>G (p.Lys622=)
n.2431A>G
c.*1703A>G (n.*1703A>G)
c.*1746A>G (n.*1746A>G)
c.1563A>G (p.Lys521=)
c.*1287A>G (n.*1287A>G)
c.2079A>G (p.Lys693=)
c.1359A>G (p.Lys453=)
c.2010A>G (p.Lys670=)
c.837A>G (p.Lys279=)
dbSNP gnomAD v4
11g.68158267T>GCA6148059KMT5Bc.1866A>C (p.Lys622Asn)
n.2431A>C
c.*1703A>C (n.*1703A>C)
c.*1746A>C (n.*1746A>C)
c.1563A>C (p.Lys521Asn)
c.*1287A>C (n.*1287A>C)
c.2079A>C (p.Lys693Asn)
c.1359A>C (p.Lys453Asn)
c.2010A>C (p.Lys670Asn)
c.837A>C (p.Lys279Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68158267T=CA1980500807KMT5Bc.1866A= (p.Lys622=)
n.2431A=
c.*1703A= (n.*1703A=)
c.*1746A= (n.*1746A=)
c.1563A= (p.Lys521=)
c.*1287A= (n.*1287A=)
c.2079A= (p.Lys693=)
c.1359A= (p.Lys453=)
c.2010A= (p.Lys670=)
c.837A= (p.Lys279=)
11g.68158268T>ACA381590122KMT5Bc.1865A>T (p.Lys622Ile)
n.2430A>T
c.*1702A>T (n.*1702A>T)
c.*1745A>T (n.*1745A>T)
c.1562A>T (p.Lys521Ile)
c.*1286A>T (n.*1286A>T)
c.2078A>T (p.Lys693Ile)
c.1358A>T (p.Lys453Ile)
c.2009A>T (p.Lys670Ile)
c.836A>T (p.Lys279Ile)
11g.68158268T>CCA381590125KMT5Bc.1865A>G (p.Lys622Arg)
n.2430A>G
c.*1702A>G (n.*1702A>G)
c.*1745A>G (n.*1745A>G)
c.1562A>G (p.Lys521Arg)
c.*1286A>G (n.*1286A>G)
c.2078A>G (p.Lys693Arg)
c.1358A>G (p.Lys453Arg)
c.2009A>G (p.Lys670Arg)
c.836A>G (p.Lys279Arg)
gnomAD v4
11g.68158268T>GCA381590121KMT5Bc.1865A>C (p.Lys622Thr)
n.2430A>C
c.*1702A>C (n.*1702A>C)
c.*1745A>C (n.*1745A>C)
c.1562A>C (p.Lys521Thr)
c.*1286A>C (n.*1286A>C)
c.2078A>C (p.Lys693Thr)
c.1358A>C (p.Lys453Thr)
c.2009A>C (p.Lys670Thr)
c.836A>C (p.Lys279Thr)
11g.68158269T>ACA381590130KMT5Bc.1864A>T (p.Lys622Ter)
n.2429A>T
c.*1701A>T (n.*1701A>T)
c.*1744A>T (n.*1744A>T)
c.1561A>T (p.Lys521Ter)
c.*1285A>T (n.*1285A>T)
c.2077A>T (p.Lys693Ter)
c.1357A>T (p.Lys453Ter)
c.2008A>T (p.Lys670Ter)
c.835A>T (p.Lys279Ter)
11g.68158269T>CCA381590131KMT5Bc.1864A>G (p.Lys622Glu)
n.2429A>G
c.*1701A>G (n.*1701A>G)
c.*1744A>G (n.*1744A>G)
c.1561A>G (p.Lys521Glu)
c.*1285A>G (n.*1285A>G)
c.2077A>G (p.Lys693Glu)
c.1357A>G (p.Lys453Glu)
c.2008A>G (p.Lys670Glu)
c.835A>G (p.Lys279Glu)
gnomAD v4
11g.68158269T>GCA381590132KMT5Bc.1864A>C (p.Lys622Gln)
n.2429A>C
c.*1701A>C (n.*1701A>C)
c.*1744A>C (n.*1744A>C)
c.1561A>C (p.Lys521Gln)
c.*1285A>C (n.*1285A>C)
c.2077A>C (p.Lys693Gln)
c.1357A>C (p.Lys453Gln)
c.2008A>C (p.Lys670Gln)
c.835A>C (p.Lys279Gln)
11g.68158270T>ACA475514905KMT5Bc.1863A>T (p.Ala621=)
n.2428A>T
c.*1700A>T (n.*1700A>T)
c.*1743A>T (n.*1743A>T)
c.1560A>T (p.Ala520=)
c.*1284A>T (n.*1284A>T)
c.2076A>T (p.Ala692=)
c.1356A>T (p.Ala452=)
c.2007A>T (p.Ala669=)
c.834A>T (p.Ala278=)
11g.68158270T>CCA475514906KMT5Bc.1863A>G (p.Ala621=)
n.2428A>G
c.*1700A>G (n.*1700A>G)
c.*1743A>G (n.*1743A>G)
c.1560A>G (p.Ala520=)
c.*1284A>G (n.*1284A>G)
c.2076A>G (p.Ala692=)
c.1356A>G (p.Ala452=)
c.2007A>G (p.Ala669=)
c.834A>G (p.Ala278=)
11g.68158270T>GCA475514907KMT5Bc.1863A>C (p.Ala621=)
n.2428A>C
c.*1700A>C (n.*1700A>C)
c.*1743A>C (n.*1743A>C)
c.1560A>C (p.Ala520=)
c.*1284A>C (n.*1284A>C)
c.2076A>C (p.Ala692=)
c.1356A>C (p.Ala452=)
c.2007A>C (p.Ala669=)
c.834A>C (p.Ala278=)
gnomAD v4
11g.68158271G>ACA381590133KMT5Bc.1862C>T (p.Ala621Val)
n.2427C>T
c.*1699C>T (n.*1699C>T)
c.*1742C>T (n.*1742C>T)
c.1559C>T (p.Ala520Val)
c.*1283C>T (n.*1283C>T)
c.2075C>T (p.Ala692Val)
c.1355C>T (p.Ala452Val)
c.2006C>T (p.Ala669Val)
c.833C>T (p.Ala278Val)
11g.68158271G>CCA381590134KMT5Bc.1862C>G (p.Ala621Gly)
n.2427C>G
c.*1699C>G (n.*1699C>G)
c.*1742C>G (n.*1742C>G)
c.1559C>G (p.Ala520Gly)
c.*1283C>G (n.*1283C>G)
c.2075C>G (p.Ala692Gly)
c.1355C>G (p.Ala452Gly)
c.2006C>G (p.Ala669Gly)
c.833C>G (p.Ala278Gly)
11g.68158271G>TCA381590135KMT5Bc.1862C>A (p.Ala621Glu)
n.2427C>A
c.*1699C>A (n.*1699C>A)
c.*1742C>A (n.*1742C>A)
c.1559C>A (p.Ala520Glu)
c.*1283C>A (n.*1283C>A)
c.2075C>A (p.Ala692Glu)
c.1355C>A (p.Ala452Glu)
c.2006C>A (p.Ala669Glu)
c.833C>A (p.Ala278Glu)
11g.68158272C>ACA381590137KMT5Bc.1861G>T (p.Ala621Ser)
n.2426G>T
c.*1698G>T (n.*1698G>T)
c.*1741G>T (n.*1741G>T)
c.1558G>T (p.Ala520Ser)
c.*1282G>T (n.*1282G>T)
c.2074G>T (p.Ala692Ser)
c.1354G>T (p.Ala452Ser)
c.2005G>T (p.Ala669Ser)
c.832G>T (p.Ala278Ser)
11g.68158272C>GCA381590140KMT5Bc.1861G>C (p.Ala621Pro)
n.2426G>C
c.*1698G>C (n.*1698G>C)
c.*1741G>C (n.*1741G>C)
c.1558G>C (p.Ala520Pro)
c.*1282G>C (n.*1282G>C)
c.2074G>C (p.Ala692Pro)
c.1354G>C (p.Ala452Pro)
c.2005G>C (p.Ala669Pro)
c.832G>C (p.Ala278Pro)
11g.68158272C>TCA381590154KMT5Bc.1861G>A (p.Ala621Thr)
n.2426G>A
c.*1698G>A (n.*1698G>A)
c.*1741G>A (n.*1741G>A)
c.1558G>A (p.Ala520Thr)
c.*1282G>A (n.*1282G>A)
c.2074G>A (p.Ala692Thr)
c.1354G>A (p.Ala452Thr)
c.2005G>A (p.Ala669Thr)
c.832G>A (p.Ala278Thr)
ClinVar dbSNP gnomAD v4
11g.68158273A>CCA475514909KMT5Bc.1860T>G (p.Thr620=)
n.2425T>G
c.*1697T>G (n.*1697T>G)
c.*1740T>G (n.*1740T>G)
c.1557T>G (p.Thr519=)
c.*1281T>G (n.*1281T>G)
c.2073T>G (p.Thr691=)
c.1353T>G (p.Thr451=)
c.2004T>G (p.Thr668=)
c.831T>G (p.Thr277=)
11g.68158273A>GCA475514910KMT5Bc.1860T>C (p.Thr620=)
n.2425T>C
c.*1697T>C (n.*1697T>C)
c.*1740T>C (n.*1740T>C)
c.1557T>C (p.Thr519=)
c.*1281T>C (n.*1281T>C)
c.2073T>C (p.Thr691=)
c.1353T>C (p.Thr451=)
c.2004T>C (p.Thr668=)
c.831T>C (p.Thr277=)
11g.68158273A>TCA475514911KMT5Bc.1860T>A (p.Thr620=)
n.2425T>A
c.*1697T>A (n.*1697T>A)
c.*1740T>A (n.*1740T>A)
c.1557T>A (p.Thr519=)
c.*1281T>A (n.*1281T>A)
c.2073T>A (p.Thr691=)
c.1353T>A (p.Thr451=)
c.2004T>A (p.Thr668=)
c.831T>A (p.Thr277=)
11g.68158274G>ACA381590157KMT5Bc.1859C>T (p.Thr620Ile)
n.2424C>T
c.*1696C>T (n.*1696C>T)
c.*1739C>T (n.*1739C>T)
c.1556C>T (p.Thr519Ile)
c.*1280C>T (n.*1280C>T)
c.2072C>T (p.Thr691Ile)
c.1352C>T (p.Thr451Ile)
c.2003C>T (p.Thr668Ile)
c.830C>T (p.Thr277Ile)
11g.68158274G>CCA381590163KMT5Bc.1859C>G (p.Thr620Ser)
n.2424C>G
c.*1696C>G (n.*1696C>G)
c.*1739C>G (n.*1739C>G)
c.1556C>G (p.Thr519Ser)
c.*1280C>G (n.*1280C>G)
c.2072C>G (p.Thr691Ser)
c.1352C>G (p.Thr451Ser)
c.2003C>G (p.Thr668Ser)
c.830C>G (p.Thr277Ser)
11g.68158274G>TCA381590168KMT5Bc.1859C>A (p.Thr620Asn)
n.2424C>A
c.*1696C>A (n.*1696C>A)
c.*1739C>A (n.*1739C>A)
c.1556C>A (p.Thr519Asn)
c.*1280C>A (n.*1280C>A)
c.2072C>A (p.Thr691Asn)
c.1352C>A (p.Thr451Asn)
c.2003C>A (p.Thr668Asn)
c.830C>A (p.Thr277Asn)
11g.68158275T>ACA381590179KMT5Bc.1858A>T (p.Thr620Ser)
n.2423A>T
c.*1695A>T (n.*1695A>T)
c.*1738A>T (n.*1738A>T)
c.1555A>T (p.Thr519Ser)
c.*1279A>T (n.*1279A>T)
c.2071A>T (p.Thr691Ser)
c.1351A>T (p.Thr451Ser)
c.2002A>T (p.Thr668Ser)
c.829A>T (p.Thr277Ser)
11g.68158275T>CCA381590176KMT5Bc.1858A>G (p.Thr620Ala)
n.2423A>G
c.*1695A>G (n.*1695A>G)
c.*1738A>G (n.*1738A>G)
c.1555A>G (p.Thr519Ala)
c.*1279A>G (n.*1279A>G)
c.2071A>G (p.Thr691Ala)
c.1351A>G (p.Thr451Ala)
c.2002A>G (p.Thr668Ala)
c.829A>G (p.Thr277Ala)
11g.68158275T>GCA381590173KMT5Bc.1858A>C (p.Thr620Pro)
n.2423A>C
c.*1695A>C (n.*1695A>C)
c.*1738A>C (n.*1738A>C)
c.1555A>C (p.Thr519Pro)
c.*1279A>C (n.*1279A>C)
c.2071A>C (p.Thr691Pro)
c.1351A>C (p.Thr451Pro)
c.2002A>C (p.Thr668Pro)
c.829A>C (p.Thr277Pro)
11g.68158276T>ACA381590184KMT5Bc.1857A>T (p.Arg619Ser)
n.2422A>T
c.*1694A>T (n.*1694A>T)
c.*1737A>T (n.*1737A>T)
c.1554A>T (p.Arg518Ser)
c.*1278A>T (n.*1278A>T)
c.2070A>T (p.Arg690Ser)
c.1350A>T (p.Arg450Ser)
c.2001A>T (p.Arg667Ser)
c.828A>T (p.Arg276Ser)
11g.68158276T>CCA475514919KMT5Bc.1857A>G (p.Arg619=)
n.2422A>G
c.*1694A>G (n.*1694A>G)
c.*1737A>G (n.*1737A>G)
c.1554A>G (p.Arg518=)
c.*1278A>G (n.*1278A>G)
c.2070A>G (p.Arg690=)
c.1350A>G (p.Arg450=)
c.2001A>G (p.Arg667=)
c.828A>G (p.Arg276=)
11g.68158276T>GCA381590186KMT5Bc.1857A>C (p.Arg619Ser)
n.2422A>C
c.*1694A>C (n.*1694A>C)
c.*1737A>C (n.*1737A>C)
c.1554A>C (p.Arg518Ser)
c.*1278A>C (n.*1278A>C)
c.2070A>C (p.Arg690Ser)
c.1350A>C (p.Arg450Ser)
c.2001A>C (p.Arg667Ser)
c.828A>C (p.Arg276Ser)
11g.68158277C>ACA381590190KMT5Bc.1856G>T (p.Arg619Ile)
n.2421G>T
c.*1693G>T (n.*1693G>T)
c.*1736G>T (n.*1736G>T)
c.1553G>T (p.Arg518Ile)
c.*1277G>T (n.*1277G>T)
c.2069G>T (p.Arg690Ile)
c.1349G>T (p.Arg450Ile)
c.2000G>T (p.Arg667Ile)
c.827G>T (p.Arg276Ile)
11g.68158277C>GCA381590191KMT5Bc.1856G>C (p.Arg619Thr)
n.2421G>C
c.*1693G>C (n.*1693G>C)
c.*1736G>C (n.*1736G>C)
c.1553G>C (p.Arg518Thr)
c.*1277G>C (n.*1277G>C)
c.2069G>C (p.Arg690Thr)
c.1349G>C (p.Arg450Thr)
c.2000G>C (p.Arg667Thr)
c.827G>C (p.Arg276Thr)
COSMIC
11g.68158277C>TCA381590193KMT5Bc.1856G>A (p.Arg619Lys)
n.2421G>A
c.*1693G>A (n.*1693G>A)
c.*1736G>A (n.*1736G>A)
c.1553G>A (p.Arg518Lys)
c.*1277G>A (n.*1277G>A)
c.2069G>A (p.Arg690Lys)
c.1349G>A (p.Arg450Lys)
c.2000G>A (p.Arg667Lys)
c.827G>A (p.Arg276Lys)
11g.68158278T>ACA381590196KMT5Bc.1855A>T (p.Arg619Ter)
n.2420A>T
c.*1692A>T (n.*1692A>T)
c.*1735A>T (n.*1735A>T)
c.1552A>T (p.Arg518Ter)
c.*1276A>T (n.*1276A>T)
c.2068A>T (p.Arg690Ter)
c.1348A>T (p.Arg450Ter)
c.1999A>T (p.Arg667Ter)
c.826A>T (p.Arg276Ter)
11g.68158278T>CCA381590202KMT5Bc.1855A>G (p.Arg619Gly)
n.2420A>G
c.*1692A>G (n.*1692A>G)
c.*1735A>G (n.*1735A>G)
c.1552A>G (p.Arg518Gly)
c.*1276A>G (n.*1276A>G)
c.2068A>G (p.Arg690Gly)
c.1348A>G (p.Arg450Gly)
c.1999A>G (p.Arg667Gly)
c.826A>G (p.Arg276Gly)
gnomAD v4
11g.68158278T>GCA475514922KMT5Bc.1855A>C (p.Arg619=)
n.2420A>C
c.*1692A>C (n.*1692A>C)
c.*1735A>C (n.*1735A>C)
c.1552A>C (p.Arg518=)
c.*1276A>C (n.*1276A>C)
c.2068A>C (p.Arg690=)
c.1348A>C (p.Arg450=)
c.1999A>C (p.Arg667=)
c.826A>C (p.Arg276=)
11g.68158279A>CCA381590205KMT5Bc.1854T>G (p.Phe618Leu)
n.2419T>G
c.*1691T>G (n.*1691T>G)
c.*1734T>G (n.*1734T>G)
c.1551T>G (p.Phe517Leu)
c.*1275T>G (n.*1275T>G)
c.2067T>G (p.Phe689Leu)
c.1347T>G (p.Phe449Leu)
c.1998T>G (p.Phe666Leu)
c.825T>G (p.Phe275Leu)
11g.68158279A>GCA475514923KMT5Bc.1854T>C (p.Phe618=)
n.2419T>C
c.*1691T>C (n.*1691T>C)
c.*1734T>C (n.*1734T>C)
c.1551T>C (p.Phe517=)
c.*1275T>C (n.*1275T>C)
c.2067T>C (p.Phe689=)
c.1347T>C (p.Phe449=)
c.1998T>C (p.Phe666=)
c.825T>C (p.Phe275=)
11g.68158279A>TCA381590207KMT5Bc.1854T>A (p.Phe618Leu)
n.2419T>A
c.*1691T>A (n.*1691T>A)
c.*1734T>A (n.*1734T>A)
c.1551T>A (p.Phe517Leu)
c.*1275T>A (n.*1275T>A)
c.2067T>A (p.Phe689Leu)
c.1347T>A (p.Phe449Leu)
c.1998T>A (p.Phe666Leu)
c.825T>A (p.Phe275Leu)
gnomAD v4
11g.68158280A>CCA381590209KMT5Bc.1853T>G (p.Phe618Cys)
n.2418T>G
c.*1690T>G (n.*1690T>G)
c.*1733T>G (n.*1733T>G)
c.1550T>G (p.Phe517Cys)
c.*1274T>G (n.*1274T>G)
c.2066T>G (p.Phe689Cys)
c.1346T>G (p.Phe449Cys)
c.1997T>G (p.Phe666Cys)
c.824T>G (p.Phe275Cys)
11g.68158280A>GCA381590213KMT5Bc.1853T>C (p.Phe618Ser)
n.2418T>C
c.*1690T>C (n.*1690T>C)
c.*1733T>C (n.*1733T>C)
c.1550T>C (p.Phe517Ser)
c.*1274T>C (n.*1274T>C)
c.2066T>C (p.Phe689Ser)
c.1346T>C (p.Phe449Ser)
c.1997T>C (p.Phe666Ser)
c.824T>C (p.Phe275Ser)
11g.68158280A>TCA381590215KMT5Bc.1853T>A (p.Phe618Tyr)
n.2418T>A
c.*1690T>A (n.*1690T>A)
c.*1733T>A (n.*1733T>A)
c.1550T>A (p.Phe517Tyr)
c.*1274T>A (n.*1274T>A)
c.2066T>A (p.Phe689Tyr)
c.1346T>A (p.Phe449Tyr)
c.1997T>A (p.Phe666Tyr)
c.824T>A (p.Phe275Tyr)
11g.68158281A>CCA381590228KMT5Bc.1852T>G (p.Phe618Val)
n.2417T>G
c.*1689T>G (n.*1689T>G)
c.*1732T>G (n.*1732T>G)
c.1549T>G (p.Phe517Val)
c.*1273T>G (n.*1273T>G)
c.2065T>G (p.Phe689Val)
c.1345T>G (p.Phe449Val)
c.1996T>G (p.Phe666Val)
c.823T>G (p.Phe275Val)
11g.68158281A>GCA381590221KMT5Bc.1852T>C (p.Phe618Leu)
n.2417T>C
c.*1689T>C (n.*1689T>C)
c.*1732T>C (n.*1732T>C)
c.1549T>C (p.Phe517Leu)
c.*1273T>C (n.*1273T>C)
c.2065T>C (p.Phe689Leu)
c.1345T>C (p.Phe449Leu)
c.1996T>C (p.Phe666Leu)
c.823T>C (p.Phe275Leu)
11g.68158281A>TCA381590219KMT5Bc.1852T>A (p.Phe618Ile)
n.2417T>A
c.*1689T>A (n.*1689T>A)
c.*1732T>A (n.*1732T>A)
c.1549T>A (p.Phe517Ile)
c.*1273T>A (n.*1273T>A)
c.2065T>A (p.Phe689Ile)
c.1345T>A (p.Phe449Ile)
c.1996T>A (p.Phe666Ile)
c.823T>A (p.Phe275Ile)
11g.68158282G>ACA475514925KMT5Bc.1851C>T (p.Ser617=)
n.2416C>T
c.*1688C>T (n.*1688C>T)
c.*1731C>T (n.*1731C>T)
c.1548C>T (p.Ser516=)
c.*1272C>T (n.*1272C>T)
c.2064C>T (p.Ser688=)
c.1344C>T (p.Ser448=)
c.1995C>T (p.Ser665=)
c.822C>T (p.Ser274=)
11g.68158282G>CCA381590233KMT5Bc.1851C>G (p.Ser617Arg)
n.2416C>G
c.*1688C>G (n.*1688C>G)
c.*1731C>G (n.*1731C>G)
c.1548C>G (p.Ser516Arg)
c.*1272C>G (n.*1272C>G)
c.2064C>G (p.Ser688Arg)
c.1344C>G (p.Ser448Arg)
c.1995C>G (p.Ser665Arg)
c.822C>G (p.Ser274Arg)
11g.68158282G>TCA381590236KMT5Bc.1851C>A (p.Ser617Arg)
n.2416C>A
c.*1688C>A (n.*1688C>A)
c.*1731C>A (n.*1731C>A)
c.1548C>A (p.Ser516Arg)
c.*1272C>A (n.*1272C>A)
c.2064C>A (p.Ser688Arg)
c.1344C>A (p.Ser448Arg)
c.1995C>A (p.Ser665Arg)
c.822C>A (p.Ser274Arg)
11g.68158283C>ACA381590241KMT5Bc.1850G>T (p.Ser617Ile)
n.2415G>T
c.*1687G>T (n.*1687G>T)
c.*1730G>T (n.*1730G>T)
c.1547G>T (p.Ser516Ile)
c.*1271G>T (n.*1271G>T)
c.2063G>T (p.Ser688Ile)
c.1343G>T (p.Ser448Ile)
c.1994G>T (p.Ser665Ile)
c.821G>T (p.Ser274Ile)
11g.68158283C>GCA381590244KMT5Bc.1850G>C (p.Ser617Thr)
n.2415G>C
c.*1687G>C (n.*1687G>C)
c.*1730G>C (n.*1730G>C)
c.1547G>C (p.Ser516Thr)
c.*1271G>C (n.*1271G>C)
c.2063G>C (p.Ser688Thr)
c.1343G>C (p.Ser448Thr)
c.1994G>C (p.Ser665Thr)
c.821G>C (p.Ser274Thr)
11g.68158283C>TCA381590247KMT5Bc.1850G>A (p.Ser617Asn)
n.2415G>A
c.*1687G>A (n.*1687G>A)
c.*1730G>A (n.*1730G>A)
c.1547G>A (p.Ser516Asn)
c.*1271G>A (n.*1271G>A)
c.2063G>A (p.Ser688Asn)
c.1343G>A (p.Ser448Asn)
c.1994G>A (p.Ser665Asn)
c.821G>A (p.Ser274Asn)
dbSNP
11g.68158284T>ACA381590250KMT5Bc.1849A>T (p.Ser617Cys)
n.2414A>T
c.*1686A>T (n.*1686A>T)
c.*1729A>T (n.*1729A>T)
c.1546A>T (p.Ser516Cys)
c.*1270A>T (n.*1270A>T)
c.2062A>T (p.Ser688Cys)
c.1342A>T (p.Ser448Cys)
c.1993A>T (p.Ser665Cys)
c.820A>T (p.Ser274Cys)
11g.68158284T>CCA6148060KMT5Bc.1849A>G (p.Ser617Gly)
n.2414A>G
c.*1686A>G (n.*1686A>G)
c.*1729A>G (n.*1729A>G)
c.1546A>G (p.Ser516Gly)
c.*1270A>G (n.*1270A>G)
c.2062A>G (p.Ser688Gly)
c.1342A>G (p.Ser448Gly)
c.1993A>G (p.Ser665Gly)
c.820A>G (p.Ser274Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.68158284T>GCA381590258KMT5Bc.1849A>C (p.Ser617Arg)
n.2414A>C
c.*1686A>C (n.*1686A>C)
c.*1729A>C (n.*1729A>C)
c.1546A>C (p.Ser516Arg)
c.*1270A>C (n.*1270A>C)
c.2062A>C (p.Ser688Arg)
c.1342A>C (p.Ser448Arg)
c.1993A>C (p.Ser665Arg)
c.820A>C (p.Ser274Arg)
11g.68158284T=CA1980500816KMT5Bc.1849A= (p.Ser617=)
n.2414A=
c.*1686A= (n.*1686A=)
c.*1729A= (n.*1729A=)
c.1546A= (p.Ser516=)
c.*1270A= (n.*1270A=)
c.2062A= (p.Ser688=)
c.1342A= (p.Ser448=)
c.1993A= (p.Ser665=)
c.820A= (p.Ser274=)
11g.68158285G>ACA475514930KMT5Bc.1848C>T (p.Asp616=)
n.2413C>T
c.*1685C>T (n.*1685C>T)
c.*1728C>T (n.*1728C>T)
c.1545C>T (p.Asp515=)
c.*1269C>T (n.*1269C>T)
c.2061C>T (p.Asp687=)
c.1341C>T (p.Asp447=)
c.1992C>T (p.Asp664=)
c.819C>T (p.Asp273=)
gnomAD v4
11g.68158285G>CCA381590263KMT5Bc.1848C>G (p.Asp616Glu)
n.2413C>G
c.*1685C>G (n.*1685C>G)
c.*1728C>G (n.*1728C>G)
c.1545C>G (p.Asp515Glu)
c.*1269C>G (n.*1269C>G)
c.2061C>G (p.Asp687Glu)
c.1341C>G (p.Asp447Glu)
c.1992C>G (p.Asp664Glu)
c.819C>G (p.Asp273Glu)
11g.68158285G>TCA381590277KMT5Bc.1848C>A (p.Asp616Glu)
n.2413C>A
c.*1685C>A (n.*1685C>A)
c.*1728C>A (n.*1728C>A)
c.1545C>A (p.Asp515Glu)
c.*1269C>A (n.*1269C>A)
c.2061C>A (p.Asp687Glu)
c.1341C>A (p.Asp447Glu)
c.1992C>A (p.Asp664Glu)
c.819C>A (p.Asp273Glu)
11g.68158286T>ACA381590285KMT5Bc.1847A>T (p.Asp616Val)
n.2412A>T
c.*1684A>T (n.*1684A>T)
c.*1727A>T (n.*1727A>T)
c.1544A>T (p.Asp515Val)
c.*1268A>T (n.*1268A>T)
c.2060A>T (p.Asp687Val)
c.1340A>T (p.Asp447Val)
c.1991A>T (p.Asp664Val)
c.818A>T (p.Asp273Val)
11g.68158286T>CCA381590291KMT5Bc.1847A>G (p.Asp616Gly)
n.2412A>G
c.*1684A>G (n.*1684A>G)
c.*1727A>G (n.*1727A>G)
c.1544A>G (p.Asp515Gly)
c.*1268A>G (n.*1268A>G)
c.2060A>G (p.Asp687Gly)
c.1340A>G (p.Asp447Gly)
c.1991A>G (p.Asp664Gly)
c.818A>G (p.Asp273Gly)
11g.68158286T>GCA381590293KMT5Bc.1847A>C (p.Asp616Ala)
n.2412A>C
c.*1684A>C (n.*1684A>C)
c.*1727A>C (n.*1727A>C)
c.1544A>C (p.Asp515Ala)
c.*1268A>C (n.*1268A>C)
c.2060A>C (p.Asp687Ala)
c.1340A>C (p.Asp447Ala)
c.1991A>C (p.Asp664Ala)
c.818A>C (p.Asp273Ala)
11g.68158287C>ACA381590302KMT5Bc.1846G>T (p.Asp616Tyr)
n.2411G>T
c.*1683G>T (n.*1683G>T)
c.*1726G>T (n.*1726G>T)
c.1543G>T (p.Asp515Tyr)
c.*1267G>T (n.*1267G>T)
c.2059G>T (p.Asp687Tyr)
c.1339G>T (p.Asp447Tyr)
c.1990G>T (p.Asp664Tyr)
c.817G>T (p.Asp273Tyr)
COSMIC COSMIC
11g.68158287C=CA1980500821KMT5Bc.1846G= (p.Asp616=)
n.2411G=
c.*1683G= (n.*1683G=)
c.*1726G= (n.*1726G=)
c.1543G= (p.Asp515=)
c.*1267G= (n.*1267G=)
c.2059G= (p.Asp687=)
c.1339G= (p.Asp447=)
c.1990G= (p.Asp664=)
c.817G= (p.Asp273=)
11g.68158287C>GCA381590301KMT5Bc.1846G>C (p.Asp616His)
n.2411G>C
c.*1683G>C (n.*1683G>C)
c.*1726G>C (n.*1726G>C)
c.1543G>C (p.Asp515His)
c.*1267G>C (n.*1267G>C)
c.2059G>C (p.Asp687His)
c.1339G>C (p.Asp447His)
c.1990G>C (p.Asp664His)
c.817G>C (p.Asp273His)
dbSNP gnomAD v4
11g.68158287C>TCA381590298KMT5Bc.1846G>A (p.Asp616Asn)
n.2411G>A
c.*1683G>A (n.*1683G>A)
c.*1726G>A (n.*1726G>A)
c.1543G>A (p.Asp515Asn)
c.*1267G>A (n.*1267G>A)
c.2059G>A (p.Asp687Asn)
c.1339G>A (p.Asp447Asn)
c.1990G>A (p.Asp664Asn)
c.817G>A (p.Asp273Asn)
dbSNP gnomAD v2
11g.68158288T>ACA381590305KMT5Bc.1845A>T (p.Lys615Asn)
n.2410A>T
c.*1682A>T (n.*1682A>T)
c.*1725A>T (n.*1725A>T)
c.1542A>T (p.Lys514Asn)
c.*1266A>T (n.*1266A>T)
c.2058A>T (p.Lys686Asn)
c.1338A>T (p.Lys446Asn)
c.1989A>T (p.Lys663Asn)
c.816A>T (p.Lys272Asn)
11g.68158288T>CCA475514936KMT5Bc.1845A>G (p.Lys615=)
n.2410A>G
c.*1682A>G (n.*1682A>G)
c.*1725A>G (n.*1725A>G)
c.1542A>G (p.Lys514=)
c.*1266A>G (n.*1266A>G)
c.2058A>G (p.Lys686=)
c.1338A>G (p.Lys446=)
c.1989A>G (p.Lys663=)
c.816A>G (p.Lys272=)
11g.68158288T>GCA381590309KMT5Bc.1845A>C (p.Lys615Asn)
n.2410A>C
c.*1682A>C (n.*1682A>C)
c.*1725A>C (n.*1725A>C)
c.1542A>C (p.Lys514Asn)
c.*1266A>C (n.*1266A>C)
c.2058A>C (p.Lys686Asn)
c.1338A>C (p.Lys446Asn)
c.1989A>C (p.Lys663Asn)
c.816A>C (p.Lys272Asn)
11g.68158289T>ACA381590312KMT5Bc.1844A>T (p.Lys615Ile)
n.2409A>T
c.*1681A>T (n.*1681A>T)
c.*1724A>T (n.*1724A>T)
c.1541A>T (p.Lys514Ile)
c.*1265A>T (n.*1265A>T)
c.2057A>T (p.Lys686Ile)
c.1337A>T (p.Lys446Ile)
c.1988A>T (p.Lys663Ile)
c.815A>T (p.Lys272Ile)
11g.68158289T>CCA381590316KMT5Bc.1844A>G (p.Lys615Arg)
n.2409A>G
c.*1681A>G (n.*1681A>G)
c.*1724A>G (n.*1724A>G)
c.1541A>G (p.Lys514Arg)
c.*1265A>G (n.*1265A>G)
c.2057A>G (p.Lys686Arg)
c.1337A>G (p.Lys446Arg)
c.1988A>G (p.Lys663Arg)
c.815A>G (p.Lys272Arg)
11g.68158289T>GCA381590320KMT5Bc.1844A>C (p.Lys615Thr)
n.2409A>C
c.*1681A>C (n.*1681A>C)
c.*1724A>C (n.*1724A>C)
c.1541A>C (p.Lys514Thr)
c.*1265A>C (n.*1265A>C)
c.2057A>C (p.Lys686Thr)
c.1337A>C (p.Lys446Thr)
c.1988A>C (p.Lys663Thr)
c.815A>C (p.Lys272Thr)
11g.68158290T>ACA381590323KMT5Bc.1843A>T (p.Lys615Ter)
n.2408A>T
c.*1680A>T (n.*1680A>T)
c.*1723A>T (n.*1723A>T)
c.1540A>T (p.Lys514Ter)
c.*1264A>T (n.*1264A>T)
c.2056A>T (p.Lys686Ter)
c.1336A>T (p.Lys446Ter)
c.1987A>T (p.Lys663Ter)
c.814A>T (p.Lys272Ter)
11g.68158290T>CCA6148061KMT5Bc.1843A>G (p.Lys615Glu)
n.2408A>G
c.*1680A>G (n.*1680A>G)
c.*1723A>G (n.*1723A>G)
c.1540A>G (p.Lys514Glu)
c.*1264A>G (n.*1264A>G)
c.2056A>G (p.Lys686Glu)
c.1336A>G (p.Lys446Glu)
c.1987A>G (p.Lys663Glu)
c.814A>G (p.Lys272Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.68158290T>GCA381590328KMT5Bc.1843A>C (p.Lys615Gln)
n.2408A>C
c.*1680A>C (n.*1680A>C)
c.*1723A>C (n.*1723A>C)
c.1540A>C (p.Lys514Gln)
c.*1264A>C (n.*1264A>C)
c.2056A>C (p.Lys686Gln)
c.1336A>C (p.Lys446Gln)
c.1987A>C (p.Lys663Gln)
c.814A>C (p.Lys272Gln)
11g.68158290T=CA1980500824KMT5Bc.1843A= (p.Lys615=)
n.2408A=
c.*1680A= (n.*1680A=)
c.*1723A= (n.*1723A=)
c.1540A= (p.Lys514=)
c.*1264A= (n.*1264A=)
c.2056A= (p.Lys686=)
c.1336A= (p.Lys446=)
c.1987A= (p.Lys663=)
c.814A= (p.Lys272=)
11g.68158291T>ACA475514938KMT5Bc.1842A>T (p.Thr614=)
n.2407A>T
c.*1679A>T (n.*1679A>T)
c.*1722A>T (n.*1722A>T)
c.1539A>T (p.Thr513=)
c.*1263A>T (n.*1263A>T)
c.2055A>T (p.Thr685=)
c.1335A>T (p.Thr445=)
c.1986A>T (p.Thr662=)
c.813A>T (p.Thr271=)
11g.68158291T>CCA6148062KMT5Bc.1842A>G (p.Thr614=)
n.2407A>G
c.*1679A>G (n.*1679A>G)
c.*1722A>G (n.*1722A>G)
c.1539A>G (p.Thr513=)
c.*1263A>G (n.*1263A>G)
c.2055A>G (p.Thr685=)
c.1335A>G (p.Thr445=)
c.1986A>G (p.Thr662=)
c.813A>G (p.Thr271=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68158291T>GCA475514940KMT5Bc.1842A>C (p.Thr614=)
n.2407A>C
c.*1679A>C (n.*1679A>C)
c.*1722A>C (n.*1722A>C)
c.1539A>C (p.Thr513=)
c.*1263A>C (n.*1263A>C)
c.2055A>C (p.Thr685=)
c.1335A>C (p.Thr445=)
c.1986A>C (p.Thr662=)
c.813A>C (p.Thr271=)
11g.68158291T=CA1980500830KMT5Bc.1842A= (p.Thr614=)
n.2407A=
c.*1679A= (n.*1679A=)
c.*1722A= (n.*1722A=)
c.1539A= (p.Thr513=)
c.*1263A= (n.*1263A=)
c.2055A= (p.Thr685=)
c.1335A= (p.Thr445=)
c.1986A= (p.Thr662=)
c.813A= (p.Thr271=)
11g.68158292G>ACA381590329KMT5Bc.1841C>T (p.Thr614Ile)
n.2406C>T
c.*1678C>T (n.*1678C>T)
c.*1721C>T (n.*1721C>T)
c.1538C>T (p.Thr513Ile)
c.*1262C>T (n.*1262C>T)
c.2054C>T (p.Thr685Ile)
c.1334C>T (p.Thr445Ile)
c.1985C>T (p.Thr662Ile)
c.812C>T (p.Thr271Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.68158292G>CCA381590332KMT5Bc.1841C>G (p.Thr614Arg)
n.2406C>G
c.*1678C>G (n.*1678C>G)
c.*1721C>G (n.*1721C>G)
c.1538C>G (p.Thr513Arg)
c.*1262C>G (n.*1262C>G)
c.2054C>G (p.Thr685Arg)
c.1334C>G (p.Thr445Arg)
c.1985C>G (p.Thr662Arg)
c.812C>G (p.Thr271Arg)
11g.68158292G=CA1980500835KMT5Bc.1841C= (p.Thr614=)
n.2406C=
c.*1678C= (n.*1678C=)
c.*1721C= (n.*1721C=)
c.1538C= (p.Thr513=)
c.*1262C= (n.*1262C=)
c.2054C= (p.Thr685=)
c.1334C= (p.Thr445=)
c.1985C= (p.Thr662=)
c.812C= (p.Thr271=)
11g.68158292G>TCA381590334KMT5Bc.1841C>A (p.Thr614Lys)
n.2406C>A
c.*1678C>A (n.*1678C>A)
c.*1721C>A (n.*1721C>A)
c.1538C>A (p.Thr513Lys)
c.*1262C>A (n.*1262C>A)
c.2054C>A (p.Thr685Lys)
c.1334C>A (p.Thr445Lys)
c.1985C>A (p.Thr662Lys)
c.812C>A (p.Thr271Lys)
11g.68158293T>ACA381590339KMT5Bc.1840A>T (p.Thr614Ser)
n.2405A>T
c.*1677A>T (n.*1677A>T)
c.*1720A>T (n.*1720A>T)
c.1537A>T (p.Thr513Ser)
c.*1261A>T (n.*1261A>T)
c.2053A>T (p.Thr685Ser)
c.*1641A>T (n.*1641A>T)
c.1333A>T (p.Thr445Ser)
c.1984A>T (p.Thr662Ser)
c.811A>T (p.Thr271Ser)
11g.68158293T>CCA381590342KMT5Bc.1840A>G (p.Thr614Ala)
n.2405A>G
c.*1677A>G (n.*1677A>G)
c.*1720A>G (n.*1720A>G)
c.1537A>G (p.Thr513Ala)
c.*1261A>G (n.*1261A>G)
c.2053A>G (p.Thr685Ala)
c.*1641A>G (n.*1641A>G)
c.1333A>G (p.Thr445Ala)
c.1984A>G (p.Thr662Ala)
c.811A>G (p.Thr271Ala)
11g.68158293T>GCA381590337KMT5Bc.1840A>C (p.Thr614Pro)
n.2405A>C
c.*1677A>C (n.*1677A>C)
c.*1720A>C (n.*1720A>C)
c.1537A>C (p.Thr513Pro)
c.*1261A>C (n.*1261A>C)
c.2053A>C (p.Thr685Pro)
c.*1641A>C (n.*1641A>C)
c.1333A>C (p.Thr445Pro)
c.1984A>C (p.Thr662Pro)
c.811A>C (p.Thr271Pro)
11g.68158294T>ACA381590345KMT5Bc.1839A>T (p.Lys613Asn)
n.2404A>T
c.*1676A>T (n.*1676A>T)
c.*1719A>T (n.*1719A>T)
c.1536A>T (p.Lys512Asn)
c.*1260A>T (n.*1260A>T)
c.2052A>T (p.Lys684Asn)
c.*1640A>T (n.*1640A>T)
c.1332A>T (p.Lys444Asn)
c.1983A>T (p.Lys661Asn)
c.810A>T (p.Lys270Asn)
11g.68158294T>CCA475514942KMT5Bc.1839A>G (p.Lys613=)
n.2404A>G
c.*1676A>G (n.*1676A>G)
c.*1719A>G (n.*1719A>G)
c.1536A>G (p.Lys512=)
c.*1260A>G (n.*1260A>G)
c.2052A>G (p.Lys684=)
c.*1640A>G (n.*1640A>G)
c.1332A>G (p.Lys444=)
c.1983A>G (p.Lys661=)
c.810A>G (p.Lys270=)
gnomAD v4
11g.68158294T>GCA381590348KMT5Bc.1839A>C (p.Lys613Asn)
n.2404A>C
c.*1676A>C (n.*1676A>C)
c.*1719A>C (n.*1719A>C)
c.1536A>C (p.Lys512Asn)
c.*1260A>C (n.*1260A>C)
c.2052A>C (p.Lys684Asn)
c.*1640A>C (n.*1640A>C)
c.1332A>C (p.Lys444Asn)
c.1983A>C (p.Lys661Asn)
c.810A>C (p.Lys270Asn)
11g.68158295T>ACA381590351KMT5Bc.1838A>T (p.Lys613Ile)
n.2403A>T
c.*1675A>T (n.*1675A>T)
c.*1718A>T (n.*1718A>T)
c.1535A>T (p.Lys512Ile)
c.*1259A>T (n.*1259A>T)
c.2051A>T (p.Lys684Ile)
c.*1639A>T (n.*1639A>T)
c.1331A>T (p.Lys444Ile)
c.1982A>T (p.Lys661Ile)
c.809A>T (p.Lys270Ile)
11g.68158295T>CCA381590354KMT5Bc.1838A>G (p.Lys613Arg)
n.2403A>G
c.*1675A>G (n.*1675A>G)
c.*1718A>G (n.*1718A>G)
c.1535A>G (p.Lys512Arg)
c.*1259A>G (n.*1259A>G)
c.2051A>G (p.Lys684Arg)
c.*1639A>G (n.*1639A>G)
c.1331A>G (p.Lys444Arg)
c.1982A>G (p.Lys661Arg)
c.809A>G (p.Lys270Arg)
11g.68158295T>GCA381590359KMT5Bc.1838A>C (p.Lys613Thr)
n.2403A>C
c.*1675A>C (n.*1675A>C)
c.*1718A>C (n.*1718A>C)
c.1535A>C (p.Lys512Thr)
c.*1259A>C (n.*1259A>C)
c.2051A>C (p.Lys684Thr)
c.*1639A>C (n.*1639A>C)
c.1331A>C (p.Lys444Thr)
c.1982A>C (p.Lys661Thr)
c.809A>C (p.Lys270Thr)

Number of alleles fetched