Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.68157753C>ACA381585835KMT5Bc.2380G>T (p.Asp794Tyr)
n.2945G>T
c.*2217G>T (n.*2217G>T)
c.*2260G>T (n.*2260G>T)
c.2077G>T (p.Asp693Tyr)
c.*1801G>T (n.*1801G>T)
c.2593G>T (p.Asp865Tyr)
c.1873G>T (p.Asp625Tyr)
c.2524G>T (p.Asp842Tyr)
c.1351G>T (p.Asp451Tyr)
COSMIC COSMIC
11g.68157753C>GCA381585836KMT5Bc.2380G>C (p.Asp794His)
n.2945G>C
c.*2217G>C (n.*2217G>C)
c.*2260G>C (n.*2260G>C)
c.2077G>C (p.Asp693His)
c.*1801G>C (n.*1801G>C)
c.2593G>C (p.Asp865His)
c.1873G>C (p.Asp625His)
c.2524G>C (p.Asp842His)
c.1351G>C (p.Asp451His)
11g.68157753C>TCA381585838KMT5Bc.2380G>A (p.Asp794Asn)
n.2945G>A
c.*2217G>A (n.*2217G>A)
c.*2260G>A (n.*2260G>A)
c.2077G>A (p.Asp693Asn)
c.*1801G>A (n.*1801G>A)
c.2593G>A (p.Asp865Asn)
c.1873G>A (p.Asp625Asn)
c.2524G>A (p.Asp842Asn)
c.1351G>A (p.Asp451Asn)
11g.68157754T>ACA381585844KMT5Bc.2379A>T (p.Lys793Asn)
n.2944A>T
c.*2216A>T (n.*2216A>T)
c.*2259A>T (n.*2259A>T)
c.2076A>T (p.Lys692Asn)
c.*1800A>T (n.*1800A>T)
c.2592A>T (p.Lys864Asn)
c.1872A>T (p.Lys624Asn)
c.2523A>T (p.Lys841Asn)
c.1350A>T (p.Lys450Asn)
11g.68157754T>CCA475514442KMT5Bc.2379A>G (p.Lys793=)
n.2944A>G
c.*2216A>G (n.*2216A>G)
c.*2259A>G (n.*2259A>G)
c.2076A>G (p.Lys692=)
c.*1800A>G (n.*1800A>G)
c.2592A>G (p.Lys864=)
c.1872A>G (p.Lys624=)
c.2523A>G (p.Lys841=)
c.1350A>G (p.Lys450=)
11g.68157754T>GCA381585841KMT5Bc.2379A>C (p.Lys793Asn)
n.2944A>C
c.*2216A>C (n.*2216A>C)
c.*2259A>C (n.*2259A>C)
c.2076A>C (p.Lys692Asn)
c.*1800A>C (n.*1800A>C)
c.2592A>C (p.Lys864Asn)
c.1872A>C (p.Lys624Asn)
c.2523A>C (p.Lys841Asn)
c.1350A>C (p.Lys450Asn)
11g.68157755T>ACA381585847KMT5Bc.2378A>T (p.Lys793Ile)
n.2943A>T
c.*2215A>T (n.*2215A>T)
c.*2258A>T (n.*2258A>T)
c.2075A>T (p.Lys692Ile)
c.*1799A>T (n.*1799A>T)
c.2591A>T (p.Lys864Ile)
c.1871A>T (p.Lys624Ile)
c.2522A>T (p.Lys841Ile)
c.1349A>T (p.Lys450Ile)
11g.68157755T>CCA381585850KMT5Bc.2378A>G (p.Lys793Arg)
n.2943A>G
c.*2215A>G (n.*2215A>G)
c.*2258A>G (n.*2258A>G)
c.2075A>G (p.Lys692Arg)
c.*1799A>G (n.*1799A>G)
c.2591A>G (p.Lys864Arg)
c.1871A>G (p.Lys624Arg)
c.2522A>G (p.Lys841Arg)
c.1349A>G (p.Lys450Arg)
11g.68157755T>GCA381585853KMT5Bc.2378A>C (p.Lys793Thr)
n.2943A>C
c.*2215A>C (n.*2215A>C)
c.*2258A>C (n.*2258A>C)
c.2075A>C (p.Lys692Thr)
c.*1799A>C (n.*1799A>C)
c.2591A>C (p.Lys864Thr)
c.1871A>C (p.Lys624Thr)
c.2522A>C (p.Lys841Thr)
c.1349A>C (p.Lys450Thr)
11g.68157756T>ACA381585862KMT5Bc.2377A>T (p.Lys793Ter)
n.2942A>T
c.*2214A>T (n.*2214A>T)
c.*2257A>T (n.*2257A>T)
c.2074A>T (p.Lys692Ter)
c.*1798A>T (n.*1798A>T)
c.2590A>T (p.Lys864Ter)
c.1870A>T (p.Lys624Ter)
c.2521A>T (p.Lys841Ter)
c.1348A>T (p.Lys450Ter)
11g.68157756T>CCA381585865KMT5Bc.2377A>G (p.Lys793Glu)
n.2942A>G
c.*2214A>G (n.*2214A>G)
c.*2257A>G (n.*2257A>G)
c.2074A>G (p.Lys692Glu)
c.*1798A>G (n.*1798A>G)
c.2590A>G (p.Lys864Glu)
c.1870A>G (p.Lys624Glu)
c.2521A>G (p.Lys841Glu)
c.1348A>G (p.Lys450Glu)
11g.68157756T>GCA381585866KMT5Bc.2377A>C (p.Lys793Gln)
n.2942A>C
c.*2214A>C (n.*2214A>C)
c.*2257A>C (n.*2257A>C)
c.2074A>C (p.Lys692Gln)
c.*1798A>C (n.*1798A>C)
c.2590A>C (p.Lys864Gln)
c.1870A>C (p.Lys624Gln)
c.2521A>C (p.Lys841Gln)
c.1348A>C (p.Lys450Gln)
11g.68157757T>ACA475514445KMT5Bc.2376A>T (p.Gly792=)
n.2941A>T
c.*2213A>T (n.*2213A>T)
c.*2256A>T (n.*2256A>T)
c.2073A>T (p.Gly691=)
c.*1797A>T (n.*1797A>T)
c.2589A>T (p.Gly863=)
c.1869A>T (p.Gly623=)
c.2520A>T (p.Gly840=)
c.1347A>T (p.Gly449=)
11g.68157757T>CCA475514446KMT5Bc.2376A>G (p.Gly792=)
n.2941A>G
c.*2213A>G (n.*2213A>G)
c.*2256A>G (n.*2256A>G)
c.2073A>G (p.Gly691=)
c.*1797A>G (n.*1797A>G)
c.2589A>G (p.Gly863=)
c.1869A>G (p.Gly623=)
c.2520A>G (p.Gly840=)
c.1347A>G (p.Gly449=)
11g.68157757T>GCA475514447KMT5Bc.2376A>C (p.Gly792=)
n.2941A>C
c.*2213A>C (n.*2213A>C)
c.*2256A>C (n.*2256A>C)
c.2073A>C (p.Gly691=)
c.*1797A>C (n.*1797A>C)
c.2589A>C (p.Gly863=)
c.1869A>C (p.Gly623=)
c.2520A>C (p.Gly840=)
c.1347A>C (p.Gly449=)
11g.68157758C>ACA381585867KMT5Bc.2375G>T (p.Gly792Val)
n.2940G>T
c.*2212G>T (n.*2212G>T)
c.*2255G>T (n.*2255G>T)
c.2072G>T (p.Gly691Val)
c.*1796G>T (n.*1796G>T)
c.2588G>T (p.Gly863Val)
c.1868G>T (p.Gly623Val)
c.2519G>T (p.Gly840Val)
c.1346G>T (p.Gly449Val)
11g.68157758C>GCA381585869KMT5Bc.2375G>C (p.Gly792Ala)
n.2940G>C
c.*2212G>C (n.*2212G>C)
c.*2255G>C (n.*2255G>C)
c.2072G>C (p.Gly691Ala)
c.*1796G>C (n.*1796G>C)
c.2588G>C (p.Gly863Ala)
c.1868G>C (p.Gly623Ala)
c.2519G>C (p.Gly840Ala)
c.1346G>C (p.Gly449Ala)
11g.68157758C>TCA381585868KMT5Bc.2375G>A (p.Gly792Glu)
n.2940G>A
c.*2212G>A (n.*2212G>A)
c.*2255G>A (n.*2255G>A)
c.2072G>A (p.Gly691Glu)
c.*1796G>A (n.*1796G>A)
c.2588G>A (p.Gly863Glu)
c.1868G>A (p.Gly623Glu)
c.2519G>A (p.Gly840Glu)
c.1346G>A (p.Gly449Glu)
11g.68157759C>ACA381585873KMT5Bc.2374G>T (p.Gly792Ter)
n.2939G>T
c.*2211G>T (n.*2211G>T)
c.*2254G>T (n.*2254G>T)
c.2071G>T (p.Gly691Ter)
c.*1795G>T (n.*1795G>T)
c.2587G>T (p.Gly863Ter)
c.1867G>T (p.Gly623Ter)
c.2518G>T (p.Gly840Ter)
c.1345G>T (p.Gly449Ter)
11g.68157759C>GCA381585877KMT5Bc.2374G>C (p.Gly792Arg)
n.2939G>C
c.*2211G>C (n.*2211G>C)
c.*2254G>C (n.*2254G>C)
c.2071G>C (p.Gly691Arg)
c.*1795G>C (n.*1795G>C)
c.2587G>C (p.Gly863Arg)
c.1867G>C (p.Gly623Arg)
c.2518G>C (p.Gly840Arg)
c.1345G>C (p.Gly449Arg)
11g.68157759C>TCA381585889KMT5Bc.2374G>A (p.Gly792Arg)
n.2939G>A
c.*2211G>A (n.*2211G>A)
c.*2254G>A (n.*2254G>A)
c.2071G>A (p.Gly691Arg)
c.*1795G>A (n.*1795G>A)
c.2587G>A (p.Gly863Arg)
c.1867G>A (p.Gly623Arg)
c.2518G>A (p.Gly840Arg)
c.1345G>A (p.Gly449Arg)
11g.68157760A>CCA475514450KMT5Bc.2373T>G (p.Val791=)
n.2938T>G
c.*2210T>G (n.*2210T>G)
c.*2253T>G (n.*2253T>G)
c.2070T>G (p.Val690=)
c.*1794T>G (n.*1794T>G)
c.2586T>G (p.Val862=)
c.1866T>G (p.Val622=)
c.2517T>G (p.Val839=)
c.1344T>G (p.Val448=)
11g.68157760A>GCA475514451KMT5Bc.2373T>C (p.Val791=)
n.2938T>C
c.*2210T>C (n.*2210T>C)
c.*2253T>C (n.*2253T>C)
c.2070T>C (p.Val690=)
c.*1794T>C (n.*1794T>C)
c.2586T>C (p.Val862=)
c.1866T>C (p.Val622=)
c.2517T>C (p.Val839=)
c.1344T>C (p.Val448=)
11g.68157760A>TCA475514452KMT5Bc.2373T>A (p.Val791=)
n.2938T>A
c.*2210T>A (n.*2210T>A)
c.*2253T>A (n.*2253T>A)
c.2070T>A (p.Val690=)
c.*1794T>A (n.*1794T>A)
c.2586T>A (p.Val862=)
c.1866T>A (p.Val622=)
c.2517T>A (p.Val839=)
c.1344T>A (p.Val448=)
11g.68157761A=CA1980499836KMT5Bc.2372T= (p.Val791=)
n.2937T=
c.*2209T= (n.*2209T=)
c.*2252T= (n.*2252T=)
c.2069T= (p.Val690=)
c.*1793T= (n.*1793T=)
c.2585T= (p.Val862=)
c.1865T= (p.Val622=)
c.2516T= (p.Val839=)
c.1343T= (p.Val448=)
11g.68157761A>CCA381585894KMT5Bc.2372T>G (p.Val791Gly)
n.2937T>G
c.*2209T>G (n.*2209T>G)
c.*2252T>G (n.*2252T>G)
c.2069T>G (p.Val690Gly)
c.*1793T>G (n.*1793T>G)
c.2585T>G (p.Val862Gly)
c.1865T>G (p.Val622Gly)
c.2516T>G (p.Val839Gly)
c.1343T>G (p.Val448Gly)
11g.68157761A>GCA224247747KMT5Bc.2372T>C (p.Val791Ala)
n.2937T>C
c.*2209T>C (n.*2209T>C)
c.*2252T>C (n.*2252T>C)
c.2069T>C (p.Val690Ala)
c.*1793T>C (n.*1793T>C)
c.2585T>C (p.Val862Ala)
c.1865T>C (p.Val622Ala)
c.2516T>C (p.Val839Ala)
c.1343T>C (p.Val448Ala)
dbSNP
11g.68157761A>TCA381585896KMT5Bc.2372T>A (p.Val791Asp)
n.2937T>A
c.*2209T>A (n.*2209T>A)
c.*2252T>A (n.*2252T>A)
c.2069T>A (p.Val690Asp)
c.*1793T>A (n.*1793T>A)
c.2585T>A (p.Val862Asp)
c.1865T>A (p.Val622Asp)
c.2516T>A (p.Val839Asp)
c.1343T>A (p.Val448Asp)
11g.68157762C>ACA381585898KMT5Bc.2371G>T (p.Val791Phe)
n.2936G>T
c.*2208G>T (n.*2208G>T)
c.*2251G>T (n.*2251G>T)
c.2068G>T (p.Val690Phe)
c.*1792G>T (n.*1792G>T)
c.2584G>T (p.Val862Phe)
c.1864G>T (p.Val622Phe)
c.2515G>T (p.Val839Phe)
c.1342G>T (p.Val448Phe)
11g.68157762C>GCA381585902KMT5Bc.2371G>C (p.Val791Leu)
n.2936G>C
c.*2208G>C (n.*2208G>C)
c.*2251G>C (n.*2251G>C)
c.2068G>C (p.Val690Leu)
c.*1792G>C (n.*1792G>C)
c.2584G>C (p.Val862Leu)
c.1864G>C (p.Val622Leu)
c.2515G>C (p.Val839Leu)
c.1342G>C (p.Val448Leu)
11g.68157762C>TCA381585909KMT5Bc.2371G>A (p.Val791Ile)
n.2936G>A
c.*2208G>A (n.*2208G>A)
c.*2251G>A (n.*2251G>A)
c.2068G>A (p.Val690Ile)
c.*1792G>A (n.*1792G>A)
c.2584G>A (p.Val862Ile)
c.1864G>A (p.Val622Ile)
c.2515G>A (p.Val839Ile)
c.1342G>A (p.Val448Ile)
gnomAD v4
11g.68157763T>ACA475514455KMT5Bc.2370A>T (p.Ile790=)
n.2935A>T
c.*2207A>T (n.*2207A>T)
c.*2250A>T (n.*2250A>T)
c.2067A>T (p.Ile689=)
c.*1791A>T (n.*1791A>T)
c.2583A>T (p.Ile861=)
c.1863A>T (p.Ile621=)
c.2514A>T (p.Ile838=)
c.1341A>T (p.Ile447=)
11g.68157763T>CCA381585911KMT5Bc.2370A>G (p.Ile790Met)
n.2935A>G
c.*2207A>G (n.*2207A>G)
c.*2250A>G (n.*2250A>G)
c.2067A>G (p.Ile689Met)
c.*1791A>G (n.*1791A>G)
c.2583A>G (p.Ile861Met)
c.1863A>G (p.Ile621Met)
c.2514A>G (p.Ile838Met)
c.1341A>G (p.Ile447Met)
11g.68157763T>GCA475514456KMT5Bc.2370A>C (p.Ile790=)
n.2935A>C
c.*2207A>C (n.*2207A>C)
c.*2250A>C (n.*2250A>C)
c.2067A>C (p.Ile689=)
c.*1791A>C (n.*1791A>C)
c.2583A>C (p.Ile861=)
c.1863A>C (p.Ile621=)
c.2514A>C (p.Ile838=)
c.1341A>C (p.Ile447=)
11g.68157764A>CCA381585921KMT5Bc.2369T>G (p.Ile790Arg)
n.2934T>G
c.*2206T>G (n.*2206T>G)
c.*2249T>G (n.*2249T>G)
c.2066T>G (p.Ile689Arg)
c.*1790T>G (n.*1790T>G)
c.2582T>G (p.Ile861Arg)
c.1862T>G (p.Ile621Arg)
c.2513T>G (p.Ile838Arg)
c.1340T>G (p.Ile447Arg)
11g.68157764A>GCA381585919KMT5Bc.2369T>C (p.Ile790Thr)
n.2934T>C
c.*2206T>C (n.*2206T>C)
c.*2249T>C (n.*2249T>C)
c.2066T>C (p.Ile689Thr)
c.*1790T>C (n.*1790T>C)
c.2582T>C (p.Ile861Thr)
c.1862T>C (p.Ile621Thr)
c.2513T>C (p.Ile838Thr)
c.1340T>C (p.Ile447Thr)
11g.68157764A>TCA381585916KMT5Bc.2369T>A (p.Ile790Lys)
n.2934T>A
c.*2206T>A (n.*2206T>A)
c.*2249T>A (n.*2249T>A)
c.2066T>A (p.Ile689Lys)
c.*1790T>A (n.*1790T>A)
c.2582T>A (p.Ile861Lys)
c.1862T>A (p.Ile621Lys)
c.2513T>A (p.Ile838Lys)
c.1340T>A (p.Ile447Lys)
11g.68157765T>ACA381585924KMT5Bc.2368A>T (p.Ile790Leu)
n.2933A>T
c.*2205A>T (n.*2205A>T)
c.*2248A>T (n.*2248A>T)
c.2065A>T (p.Ile689Leu)
c.*1789A>T (n.*1789A>T)
c.2581A>T (p.Ile861Leu)
c.1861A>T (p.Ile621Leu)
c.2512A>T (p.Ile838Leu)
c.1339A>T (p.Ile447Leu)
11g.68157765T>CCA381585926KMT5Bc.2368A>G (p.Ile790Val)
n.2933A>G
c.*2205A>G (n.*2205A>G)
c.*2248A>G (n.*2248A>G)
c.2065A>G (p.Ile689Val)
c.*1789A>G (n.*1789A>G)
c.2581A>G (p.Ile861Val)
c.1861A>G (p.Ile621Val)
c.2512A>G (p.Ile838Val)
c.1339A>G (p.Ile447Val)
11g.68157765T>GCA381585925KMT5Bc.2368A>C (p.Ile790Leu)
n.2933A>C
c.*2205A>C (n.*2205A>C)
c.*2248A>C (n.*2248A>C)
c.2065A>C (p.Ile689Leu)
c.*1789A>C (n.*1789A>C)
c.2581A>C (p.Ile861Leu)
c.1861A>C (p.Ile621Leu)
c.2512A>C (p.Ile838Leu)
c.1339A>C (p.Ile447Leu)
11g.68157766T>ACA381585927KMT5Bc.2367A>T (p.Leu789Phe)
n.2932A>T
c.*2204A>T (n.*2204A>T)
c.*2247A>T (n.*2247A>T)
c.2064A>T (p.Leu688Phe)
c.*1788A>T (n.*1788A>T)
c.2580A>T (p.Leu860Phe)
c.1860A>T (p.Leu620Phe)
c.2511A>T (p.Leu837Phe)
c.1338A>T (p.Leu446Phe)
11g.68157766T>CCA475514459KMT5Bc.2367A>G (p.Leu789=)
n.2932A>G
c.*2204A>G (n.*2204A>G)
c.*2247A>G (n.*2247A>G)
c.2064A>G (p.Leu688=)
c.*1788A>G (n.*1788A>G)
c.2580A>G (p.Leu860=)
c.1860A>G (p.Leu620=)
c.2511A>G (p.Leu837=)
c.1338A>G (p.Leu446=)
gnomAD v4
11g.68157766T>GCA381585928KMT5Bc.2367A>C (p.Leu789Phe)
n.2932A>C
c.*2204A>C (n.*2204A>C)
c.*2247A>C (n.*2247A>C)
c.2064A>C (p.Leu688Phe)
c.*1788A>C (n.*1788A>C)
c.2580A>C (p.Leu860Phe)
c.1860A>C (p.Leu620Phe)
c.2511A>C (p.Leu837Phe)
c.1338A>C (p.Leu446Phe)
11g.68157767A>CCA381585932KMT5Bc.2366T>G (p.Leu789Ter)
n.2931T>G
c.*2203T>G (n.*2203T>G)
c.*2246T>G (n.*2246T>G)
c.2063T>G (p.Leu688Ter)
c.*1787T>G (n.*1787T>G)
c.2579T>G (p.Leu860Ter)
c.1859T>G (p.Leu620Ter)
c.2510T>G (p.Leu837Ter)
c.1337T>G (p.Leu446Ter)
11g.68157767A>GCA381585937KMT5Bc.2366T>C (p.Leu789Ser)
n.2931T>C
c.*2203T>C (n.*2203T>C)
c.*2246T>C (n.*2246T>C)
c.2063T>C (p.Leu688Ser)
c.*1787T>C (n.*1787T>C)
c.2579T>C (p.Leu860Ser)
c.1859T>C (p.Leu620Ser)
c.2510T>C (p.Leu837Ser)
c.1337T>C (p.Leu446Ser)
11g.68157767A>TCA381585939KMT5Bc.2366T>A (p.Leu789Ter)
n.2931T>A
c.*2203T>A (n.*2203T>A)
c.*2246T>A (n.*2246T>A)
c.2063T>A (p.Leu688Ter)
c.*1787T>A (n.*1787T>A)
c.2579T>A (p.Leu860Ter)
c.1859T>A (p.Leu620Ter)
c.2510T>A (p.Leu837Ter)
c.1337T>A (p.Leu446Ter)
11g.68157768A>CCA381585945KMT5Bc.2365T>G (p.Leu789Val)
n.2930T>G
c.*2202T>G (n.*2202T>G)
c.*2245T>G (n.*2245T>G)
c.2062T>G (p.Leu688Val)
c.*1786T>G (n.*1786T>G)
c.2578T>G (p.Leu860Val)
c.1858T>G (p.Leu620Val)
c.2509T>G (p.Leu837Val)
c.1336T>G (p.Leu446Val)
11g.68157768A>GCA475514466KMT5Bc.2365T>C (p.Leu789=)
n.2930T>C
c.*2202T>C (n.*2202T>C)
c.*2245T>C (n.*2245T>C)
c.2062T>C (p.Leu688=)
c.*1786T>C (n.*1786T>C)
c.2578T>C (p.Leu860=)
c.1858T>C (p.Leu620=)
c.2509T>C (p.Leu837=)
c.1336T>C (p.Leu446=)
11g.68157768A>TCA381585952KMT5Bc.2365T>A (p.Leu789Ile)
n.2930T>A
c.*2202T>A (n.*2202T>A)
c.*2245T>A (n.*2245T>A)
c.2062T>A (p.Leu688Ile)
c.*1786T>A (n.*1786T>A)
c.2578T>A (p.Leu860Ile)
c.1858T>A (p.Leu620Ile)
c.2509T>A (p.Leu837Ile)
c.1336T>A (p.Leu446Ile)
11g.68157769C>ACA381585965KMT5Bc.2364G>T (p.Arg788Ser)
n.2929G>T
c.*2201G>T (n.*2201G>T)
c.*2244G>T (n.*2244G>T)
c.2061G>T (p.Arg687Ser)
c.*1785G>T (n.*1785G>T)
c.2577G>T (p.Arg859Ser)
c.1857G>T (p.Arg619Ser)
c.2508G>T (p.Arg836Ser)
c.1335G>T (p.Arg445Ser)
11g.68157769C>GCA381585970KMT5Bc.2364G>C (p.Arg788Ser)
n.2929G>C
c.*2201G>C (n.*2201G>C)
c.*2244G>C (n.*2244G>C)
c.2061G>C (p.Arg687Ser)
c.*1785G>C (n.*1785G>C)
c.2577G>C (p.Arg859Ser)
c.1857G>C (p.Arg619Ser)
c.2508G>C (p.Arg836Ser)
c.1335G>C (p.Arg445Ser)
11g.68157769C>TCA475514467KMT5Bc.2364G>A (p.Arg788=)
n.2929G>A
c.*2201G>A (n.*2201G>A)
c.*2244G>A (n.*2244G>A)
c.2061G>A (p.Arg687=)
c.*1785G>A (n.*1785G>A)
c.2577G>A (p.Arg859=)
c.1857G>A (p.Arg619=)
c.2508G>A (p.Arg836=)
c.1335G>A (p.Arg445=)
11g.68157770C>ACA381585975KMT5Bc.2363G>T (p.Arg788Met)
n.2928G>T
c.*2200G>T (n.*2200G>T)
c.*2243G>T (n.*2243G>T)
c.2060G>T (p.Arg687Met)
c.*1784G>T (n.*1784G>T)
c.2576G>T (p.Arg859Met)
c.1856G>T (p.Arg619Met)
c.2507G>T (p.Arg836Met)
c.1334G>T (p.Arg445Met)
11g.68157770C=CA1980499839KMT5Bc.2363G= (p.Arg788=)
n.2928G=
c.*2200G= (n.*2200G=)
c.*2243G= (n.*2243G=)
c.2060G= (p.Arg687=)
c.*1784G= (n.*1784G=)
c.2576G= (p.Arg859=)
c.1856G= (p.Arg619=)
c.2507G= (p.Arg836=)
c.1334G= (p.Arg445=)
11g.68157770C>GCA381585977KMT5Bc.2363G>C (p.Arg788Thr)
n.2928G>C
c.*2200G>C (n.*2200G>C)
c.*2243G>C (n.*2243G>C)
c.2060G>C (p.Arg687Thr)
c.*1784G>C (n.*1784G>C)
c.2576G>C (p.Arg859Thr)
c.1856G>C (p.Arg619Thr)
c.2507G>C (p.Arg836Thr)
c.1334G>C (p.Arg445Thr)
11g.68157770C>TCA224247757KMT5Bc.2363G>A (p.Arg788Lys)
n.2928G>A
c.*2200G>A (n.*2200G>A)
c.*2243G>A (n.*2243G>A)
c.2060G>A (p.Arg687Lys)
c.*1784G>A (n.*1784G>A)
c.2576G>A (p.Arg859Lys)
c.1856G>A (p.Arg619Lys)
c.2507G>A (p.Arg836Lys)
c.1334G>A (p.Arg445Lys)
dbSNP gnomAD v4
11g.68157771T>ACA381585982KMT5Bc.2362A>T (p.Arg788Trp)
n.2927A>T
c.*2199A>T (n.*2199A>T)
c.*2242A>T (n.*2242A>T)
c.2059A>T (p.Arg687Trp)
c.*1783A>T (n.*1783A>T)
c.2575A>T (p.Arg859Trp)
c.1855A>T (p.Arg619Trp)
c.2506A>T (p.Arg836Trp)
c.1333A>T (p.Arg445Trp)
11g.68157771T>CCA381585985KMT5Bc.2362A>G (p.Arg788Gly)
n.2927A>G
c.*2199A>G (n.*2199A>G)
c.*2242A>G (n.*2242A>G)
c.2059A>G (p.Arg687Gly)
c.*1783A>G (n.*1783A>G)
c.2575A>G (p.Arg859Gly)
c.1855A>G (p.Arg619Gly)
c.2506A>G (p.Arg836Gly)
c.1333A>G (p.Arg445Gly)
11g.68157771T>GCA475514468KMT5Bc.2362A>C (p.Arg788=)
n.2927A>C
c.*2199A>C (n.*2199A>C)
c.*2242A>C (n.*2242A>C)
c.2059A>C (p.Arg687=)
c.*1783A>C (n.*1783A>C)
c.2575A>C (p.Arg859=)
c.1855A>C (p.Arg619=)
c.2506A>C (p.Arg836=)
c.1333A>C (p.Arg445=)
11g.68157772C>ACA381585991KMT5Bc.2361G>T (p.Leu787Phe)
n.2926G>T
c.*2198G>T (n.*2198G>T)
c.*2241G>T (n.*2241G>T)
c.2058G>T (p.Leu686Phe)
c.*1782G>T (n.*1782G>T)
c.2574G>T (p.Leu858Phe)
c.1854G>T (p.Leu618Phe)
c.2505G>T (p.Leu835Phe)
c.1332G>T (p.Leu444Phe)
11g.68157772C>GCA381585995KMT5Bc.2361G>C (p.Leu787Phe)
n.2926G>C
c.*2198G>C (n.*2198G>C)
c.*2241G>C (n.*2241G>C)
c.2058G>C (p.Leu686Phe)
c.*1782G>C (n.*1782G>C)
c.2574G>C (p.Leu858Phe)
c.1854G>C (p.Leu618Phe)
c.2505G>C (p.Leu835Phe)
c.1332G>C (p.Leu444Phe)
COSMIC COSMIC
11g.68157772C>TCA475514470KMT5Bc.2361G>A (p.Leu787=)
n.2926G>A
c.*2198G>A (n.*2198G>A)
c.*2241G>A (n.*2241G>A)
c.2058G>A (p.Leu686=)
c.*1782G>A (n.*1782G>A)
c.2574G>A (p.Leu858=)
c.1854G>A (p.Leu618=)
c.2505G>A (p.Leu835=)
c.1332G>A (p.Leu444=)
gnomAD v4
11g.68157773A>CCA381586001KMT5Bc.2360T>G (p.Leu787Trp)
n.2925T>G
c.*2197T>G (n.*2197T>G)
c.*2240T>G (n.*2240T>G)
c.2057T>G (p.Leu686Trp)
c.*1781T>G (n.*1781T>G)
c.2573T>G (p.Leu858Trp)
c.1853T>G (p.Leu618Trp)
c.2504T>G (p.Leu835Trp)
c.1331T>G (p.Leu444Trp)
11g.68157773A>GCA381586003KMT5Bc.2360T>C (p.Leu787Ser)
n.2925T>C
c.*2197T>C (n.*2197T>C)
c.*2240T>C (n.*2240T>C)
c.2057T>C (p.Leu686Ser)
c.*1781T>C (n.*1781T>C)
c.2573T>C (p.Leu858Ser)
c.1853T>C (p.Leu618Ser)
c.2504T>C (p.Leu835Ser)
c.1331T>C (p.Leu444Ser)
11g.68157773A>TCA381586006KMT5Bc.2360T>A (p.Leu787Ter)
n.2925T>A
c.*2197T>A (n.*2197T>A)
c.*2240T>A (n.*2240T>A)
c.2057T>A (p.Leu686Ter)
c.*1781T>A (n.*1781T>A)
c.2573T>A (p.Leu858Ter)
c.1853T>A (p.Leu618Ter)
c.2504T>A (p.Leu835Ter)
c.1331T>A (p.Leu444Ter)
11g.68157774A>CCA381586013KMT5Bc.2359T>G (p.Leu787Val)
n.2924T>G
c.*2196T>G (n.*2196T>G)
c.*2239T>G (n.*2239T>G)
c.2056T>G (p.Leu686Val)
c.*1780T>G (n.*1780T>G)
c.2572T>G (p.Leu858Val)
c.1852T>G (p.Leu618Val)
c.2503T>G (p.Leu835Val)
c.1330T>G (p.Leu444Val)
COSMIC COSMIC
11g.68157774A>GCA475514475KMT5Bc.2359T>C (p.Leu787=)
n.2924T>C
c.*2196T>C (n.*2196T>C)
c.*2239T>C (n.*2239T>C)
c.2056T>C (p.Leu686=)
c.*1780T>C (n.*1780T>C)
c.2572T>C (p.Leu858=)
c.1852T>C (p.Leu618=)
c.2503T>C (p.Leu835=)
c.1330T>C (p.Leu444=)
11g.68157774A>TCA381586015KMT5Bc.2359T>A (p.Leu787Met)
n.2924T>A
c.*2196T>A (n.*2196T>A)
c.*2239T>A (n.*2239T>A)
c.2056T>A (p.Leu686Met)
c.*1780T>A (n.*1780T>A)
c.2572T>A (p.Leu858Met)
c.1852T>A (p.Leu618Met)
c.2503T>A (p.Leu835Met)
c.1330T>A (p.Leu444Met)
11g.68157775G>ACA475514476KMT5Bc.2358C>T (p.Arg786=)
n.2923C>T
c.*2195C>T (n.*2195C>T)
c.*2238C>T (n.*2238C>T)
c.2055C>T (p.Arg685=)
c.*1779C>T (n.*1779C>T)
c.2571C>T (p.Arg857=)
c.1851C>T (p.Arg617=)
c.2502C>T (p.Arg834=)
c.1329C>T (p.Arg443=)
11g.68157775G>CCA475514477KMT5Bc.2358C>G (p.Arg786=)
n.2923C>G
c.*2195C>G (n.*2195C>G)
c.*2238C>G (n.*2238C>G)
c.2055C>G (p.Arg685=)
c.*1779C>G (n.*1779C>G)
c.2571C>G (p.Arg857=)
c.1851C>G (p.Arg617=)
c.2502C>G (p.Arg834=)
c.1329C>G (p.Arg443=)
11g.68157775G>TCA475514478KMT5Bc.2358C>A (p.Arg786=)
n.2923C>A
c.*2195C>A (n.*2195C>A)
c.*2238C>A (n.*2238C>A)
c.2055C>A (p.Arg685=)
c.*1779C>A (n.*1779C>A)
c.2571C>A (p.Arg857=)
c.1851C>A (p.Arg617=)
c.2502C>A (p.Arg834=)
c.1329C>A (p.Arg443=)
11g.68157776C>ACA381586016KMT5Bc.2357G>T (p.Arg786Leu)
n.2922G>T
c.*2194G>T (n.*2194G>T)
c.*2237G>T (n.*2237G>T)
c.2054G>T (p.Arg685Leu)
c.*1778G>T (n.*1778G>T)
c.2570G>T (p.Arg857Leu)
c.1850G>T (p.Arg617Leu)
c.2501G>T (p.Arg834Leu)
c.1328G>T (p.Arg443Leu)
11g.68157776C>GCA381586017KMT5Bc.2357G>C (p.Arg786Pro)
n.2922G>C
c.*2194G>C (n.*2194G>C)
c.*2237G>C (n.*2237G>C)
c.2054G>C (p.Arg685Pro)
c.*1778G>C (n.*1778G>C)
c.2570G>C (p.Arg857Pro)
c.1850G>C (p.Arg617Pro)
c.2501G>C (p.Arg834Pro)
c.1328G>C (p.Arg443Pro)
11g.68157776C>TCA381586020KMT5Bc.2357G>A (p.Arg786His)
n.2922G>A
c.*2194G>A (n.*2194G>A)
c.*2237G>A (n.*2237G>A)
c.2054G>A (p.Arg685His)
c.*1778G>A (n.*1778G>A)
c.2570G>A (p.Arg857His)
c.1850G>A (p.Arg617His)
c.2501G>A (p.Arg834His)
c.1328G>A (p.Arg443His)
gnomAD v4 COSMIC COSMIC
11g.68157777G>ACA381586024KMT5Bc.2356C>T (p.Arg786Cys)
n.2921C>T
c.*2193C>T (n.*2193C>T)
c.*2236C>T (n.*2236C>T)
c.2053C>T (p.Arg685Cys)
c.*1777C>T (n.*1777C>T)
c.2569C>T (p.Arg857Cys)
c.1849C>T (p.Arg617Cys)
c.2500C>T (p.Arg834Cys)
c.1327C>T (p.Arg443Cys)
dbSNP gnomAD v2 gnomAD v4
11g.68157777G>CCA381586030KMT5Bc.2356C>G (p.Arg786Gly)
n.2921C>G
c.*2193C>G (n.*2193C>G)
c.*2236C>G (n.*2236C>G)
c.2053C>G (p.Arg685Gly)
c.*1777C>G (n.*1777C>G)
c.2569C>G (p.Arg857Gly)
c.1849C>G (p.Arg617Gly)
c.2500C>G (p.Arg834Gly)
c.1327C>G (p.Arg443Gly)
11g.68157777G=CA1980499846KMT5Bc.2356C= (p.Arg786=)
n.2921C=
c.*2193C= (n.*2193C=)
c.*2236C= (n.*2236C=)
c.2053C= (p.Arg685=)
c.*1777C= (n.*1777C=)
c.2569C= (p.Arg857=)
c.1849C= (p.Arg617=)
c.2500C= (p.Arg834=)
c.1327C= (p.Arg443=)
11g.68157777G>TCA381586022KMT5Bc.2356C>A (p.Arg786Ser)
n.2921C>A
c.*2193C>A (n.*2193C>A)
c.*2236C>A (n.*2236C>A)
c.2053C>A (p.Arg685Ser)
c.*1777C>A (n.*1777C>A)
c.2569C>A (p.Arg857Ser)
c.1849C>A (p.Arg617Ser)
c.2500C>A (p.Arg834Ser)
c.1327C>A (p.Arg443Ser)
11g.68157778C>ACA381586034KMT5Bc.2355G>T (p.Lys785Asn)
n.2920G>T
c.*2192G>T (n.*2192G>T)
c.*2235G>T (n.*2235G>T)
c.2052G>T (p.Lys684Asn)
c.*1776G>T (n.*1776G>T)
c.2568G>T (p.Lys856Asn)
c.1848G>T (p.Lys616Asn)
c.2499G>T (p.Lys833Asn)
c.1326G>T (p.Lys442Asn)
11g.68157778C=CA1980499852KMT5Bc.2355G= (p.Lys785=)
n.2920G=
c.*2192G= (n.*2192G=)
c.*2235G= (n.*2235G=)
c.2052G= (p.Lys684=)
c.*1776G= (n.*1776G=)
c.2568G= (p.Lys856=)
c.1848G= (p.Lys616=)
c.2499G= (p.Lys833=)
c.1326G= (p.Lys442=)
11g.68157778C>GCA381586041KMT5Bc.2355G>C (p.Lys785Asn)
n.2920G>C
c.*2192G>C (n.*2192G>C)
c.*2235G>C (n.*2235G>C)
c.2052G>C (p.Lys684Asn)
c.*1776G>C (n.*1776G>C)
c.2568G>C (p.Lys856Asn)
c.1848G>C (p.Lys616Asn)
c.2499G>C (p.Lys833Asn)
c.1326G>C (p.Lys442Asn)
11g.68157778C>TCA475514484KMT5Bc.2355G>A (p.Lys785=)
n.2920G>A
c.*2192G>A (n.*2192G>A)
c.*2235G>A (n.*2235G>A)
c.2052G>A (p.Lys684=)
c.*1776G>A (n.*1776G>A)
c.2568G>A (p.Lys856=)
c.1848G>A (p.Lys616=)
c.2499G>A (p.Lys833=)
c.1326G>A (p.Lys442=)
dbSNP
11g.68157779T>ACA381586044KMT5Bc.2354A>T (p.Lys785Met)
n.2919A>T
c.*2191A>T (n.*2191A>T)
c.*2234A>T (n.*2234A>T)
c.2051A>T (p.Lys684Met)
c.*1775A>T (n.*1775A>T)
c.2567A>T (p.Lys856Met)
c.1847A>T (p.Lys616Met)
c.2498A>T (p.Lys833Met)
c.1325A>T (p.Lys442Met)
11g.68157779T>CCA381586046KMT5Bc.2354A>G (p.Lys785Arg)
n.2919A>G
c.*2191A>G (n.*2191A>G)
c.*2234A>G (n.*2234A>G)
c.2051A>G (p.Lys684Arg)
c.*1775A>G (n.*1775A>G)
c.2567A>G (p.Lys856Arg)
c.1847A>G (p.Lys616Arg)
c.2498A>G (p.Lys833Arg)
c.1325A>G (p.Lys442Arg)
11g.68157779T>GCA381586047KMT5Bc.2354A>C (p.Lys785Thr)
n.2919A>C
c.*2191A>C (n.*2191A>C)
c.*2234A>C (n.*2234A>C)
c.2051A>C (p.Lys684Thr)
c.*1775A>C (n.*1775A>C)
c.2567A>C (p.Lys856Thr)
c.1847A>C (p.Lys616Thr)
c.2498A>C (p.Lys833Thr)
c.1325A>C (p.Lys442Thr)
11g.68157780T>ACA381586050KMT5Bc.2353A>T (p.Lys785Ter)
n.2918A>T
c.*2190A>T (n.*2190A>T)
c.*2233A>T (n.*2233A>T)
c.2050A>T (p.Lys684Ter)
c.*1774A>T (n.*1774A>T)
c.2566A>T (p.Lys856Ter)
c.1846A>T (p.Lys616Ter)
c.2497A>T (p.Lys833Ter)
c.1324A>T (p.Lys442Ter)
11g.68157780T>CCA381586049KMT5Bc.2353A>G (p.Lys785Glu)
n.2918A>G
c.*2190A>G (n.*2190A>G)
c.*2233A>G (n.*2233A>G)
c.2050A>G (p.Lys684Glu)
c.*1774A>G (n.*1774A>G)
c.2566A>G (p.Lys856Glu)
c.1846A>G (p.Lys616Glu)
c.2497A>G (p.Lys833Glu)
c.1324A>G (p.Lys442Glu)
11g.68157780T>GCA381586048KMT5Bc.2353A>C (p.Lys785Gln)
n.2918A>C
c.*2190A>C (n.*2190A>C)
c.*2233A>C (n.*2233A>C)
c.2050A>C (p.Lys684Gln)
c.*1774A>C (n.*1774A>C)
c.2566A>C (p.Lys856Gln)
c.1846A>C (p.Lys616Gln)
c.2497A>C (p.Lys833Gln)
c.1324A>C (p.Lys442Gln)
gnomAD v4
11g.68157781A>CCA475514485KMT5Bc.2352T>G (p.Ala784=)
n.2917T>G
c.*2189T>G (n.*2189T>G)
c.*2232T>G (n.*2232T>G)
c.2049T>G (p.Ala683=)
c.*1773T>G (n.*1773T>G)
c.2565T>G (p.Ala855=)
c.1845T>G (p.Ala615=)
c.2496T>G (p.Ala832=)
c.1323T>G (p.Ala441=)
gnomAD v4
11g.68157781A>GCA475514486KMT5Bc.2352T>C (p.Ala784=)
n.2917T>C
c.*2189T>C (n.*2189T>C)
c.*2232T>C (n.*2232T>C)
c.2049T>C (p.Ala683=)
c.*1773T>C (n.*1773T>C)
c.2565T>C (p.Ala855=)
c.1845T>C (p.Ala615=)
c.2496T>C (p.Ala832=)
c.1323T>C (p.Ala441=)
11g.68157781A>TCA475514487KMT5Bc.2352T>A (p.Ala784=)
n.2917T>A
c.*2189T>A (n.*2189T>A)
c.*2232T>A (n.*2232T>A)
c.2049T>A (p.Ala683=)
c.*1773T>A (n.*1773T>A)
c.2565T>A (p.Ala855=)
c.1845T>A (p.Ala615=)
c.2496T>A (p.Ala832=)
c.1323T>A (p.Ala441=)
11g.68157782G>ACA381586053KMT5Bc.2351C>T (p.Ala784Val)
n.2916C>T
c.*2188C>T (n.*2188C>T)
c.*2231C>T (n.*2231C>T)
c.2048C>T (p.Ala683Val)
c.*1772C>T (n.*1772C>T)
c.2564C>T (p.Ala855Val)
c.1844C>T (p.Ala615Val)
c.2495C>T (p.Ala832Val)
c.1322C>T (p.Ala441Val)
11g.68157782G>CCA381586055KMT5Bc.2351C>G (p.Ala784Gly)
n.2916C>G
c.*2188C>G (n.*2188C>G)
c.*2231C>G (n.*2231C>G)
c.2048C>G (p.Ala683Gly)
c.*1772C>G (n.*1772C>G)
c.2564C>G (p.Ala855Gly)
c.1844C>G (p.Ala615Gly)
c.2495C>G (p.Ala832Gly)
c.1322C>G (p.Ala441Gly)
11g.68157782G>TCA381586058KMT5Bc.2351C>A (p.Ala784Asp)
n.2916C>A
c.*2188C>A (n.*2188C>A)
c.*2231C>A (n.*2231C>A)
c.2048C>A (p.Ala683Asp)
c.*1772C>A (n.*1772C>A)
c.2564C>A (p.Ala855Asp)
c.1844C>A (p.Ala615Asp)
c.2495C>A (p.Ala832Asp)
c.1322C>A (p.Ala441Asp)
11g.68157783C>ACA381586061KMT5Bc.2350G>T (p.Ala784Ser)
n.2915G>T
c.*2187G>T (n.*2187G>T)
c.*2230G>T (n.*2230G>T)
c.2047G>T (p.Ala683Ser)
c.*1771G>T (n.*1771G>T)
c.2563G>T (p.Ala855Ser)
c.1843G>T (p.Ala615Ser)
c.2494G>T (p.Ala832Ser)
c.1321G>T (p.Ala441Ser)
11g.68157783C=CA1980499857KMT5Bc.2350G= (p.Ala784=)
n.2915G=
c.*2187G= (n.*2187G=)
c.*2230G= (n.*2230G=)
c.2047G= (p.Ala683=)
c.*1771G= (n.*1771G=)
c.2563G= (p.Ala855=)
c.1843G= (p.Ala615=)
c.2494G= (p.Ala832=)
c.1321G= (p.Ala441=)
11g.68157783C>GCA381586065KMT5Bc.2350G>C (p.Ala784Pro)
n.2915G>C
c.*2187G>C (n.*2187G>C)
c.*2230G>C (n.*2230G>C)
c.2047G>C (p.Ala683Pro)
c.*1771G>C (n.*1771G>C)
c.2563G>C (p.Ala855Pro)
c.1843G>C (p.Ala615Pro)
c.2494G>C (p.Ala832Pro)
c.1321G>C (p.Ala441Pro)
11g.68157783C>TCA381586069KMT5Bc.2350G>A (p.Ala784Thr)
n.2915G>A
c.*2187G>A (n.*2187G>A)
c.*2230G>A (n.*2230G>A)
c.2047G>A (p.Ala683Thr)
c.*1771G>A (n.*1771G>A)
c.2563G>A (p.Ala855Thr)
c.1843G>A (p.Ala615Thr)
c.2494G>A (p.Ala832Thr)
c.1321G>A (p.Ala441Thr)
dbSNP
11g.68157784T>ACA475514491KMT5Bc.2349A>T (p.Pro783=)
n.2914A>T
c.*2186A>T (n.*2186A>T)
c.*2229A>T (n.*2229A>T)
c.2046A>T (p.Pro682=)
c.*1770A>T (n.*1770A>T)
c.2562A>T (p.Pro854=)
c.1842A>T (p.Pro614=)
c.2493A>T (p.Pro831=)
c.1320A>T (p.Pro440=)
11g.68157784T>CCA475514493KMT5Bc.2349A>G (p.Pro783=)
n.2914A>G
c.*2186A>G (n.*2186A>G)
c.*2229A>G (n.*2229A>G)
c.2046A>G (p.Pro682=)
c.*1770A>G (n.*1770A>G)
c.2562A>G (p.Pro854=)
c.1842A>G (p.Pro614=)
c.2493A>G (p.Pro831=)
c.1320A>G (p.Pro440=)
dbSNP gnomAD v4
11g.68157784T>GCA475514492KMT5Bc.2349A>C (p.Pro783=)
n.2914A>C
c.*2186A>C (n.*2186A>C)
c.*2229A>C (n.*2229A>C)
c.2046A>C (p.Pro682=)
c.*1770A>C (n.*1770A>C)
c.2562A>C (p.Pro854=)
c.1842A>C (p.Pro614=)
c.2493A>C (p.Pro831=)
c.1320A>C (p.Pro440=)
11g.68157784T=CA1980499863KMT5Bc.2349A= (p.Pro783=)
n.2914A=
c.*2186A= (n.*2186A=)
c.*2229A= (n.*2229A=)
c.2046A= (p.Pro682=)
c.*1770A= (n.*1770A=)
c.2562A= (p.Pro854=)
c.1842A= (p.Pro614=)
c.2493A= (p.Pro831=)
c.1320A= (p.Pro440=)
11g.68157785G>ACA381586075KMT5Bc.2348C>T (p.Pro783Leu)
n.2913C>T
c.*2185C>T (n.*2185C>T)
c.*2228C>T (n.*2228C>T)
c.2045C>T (p.Pro682Leu)
c.*1769C>T (n.*1769C>T)
c.2561C>T (p.Pro854Leu)
c.1841C>T (p.Pro614Leu)
c.2492C>T (p.Pro831Leu)
c.1319C>T (p.Pro440Leu)
11g.68157785G>CCA381586085KMT5Bc.2348C>G (p.Pro783Arg)
n.2913C>G
c.*2185C>G (n.*2185C>G)
c.*2228C>G (n.*2228C>G)
c.2045C>G (p.Pro682Arg)
c.*1769C>G (n.*1769C>G)
c.2561C>G (p.Pro854Arg)
c.1841C>G (p.Pro614Arg)
c.2492C>G (p.Pro831Arg)
c.1319C>G (p.Pro440Arg)
11g.68157785G>TCA381586084KMT5Bc.2348C>A (p.Pro783Gln)
n.2913C>A
c.*2185C>A (n.*2185C>A)
c.*2228C>A (n.*2228C>A)
c.2045C>A (p.Pro682Gln)
c.*1769C>A (n.*1769C>A)
c.2561C>A (p.Pro854Gln)
c.1841C>A (p.Pro614Gln)
c.2492C>A (p.Pro831Gln)
c.1319C>A (p.Pro440Gln)
11g.68157786G>ACA381586099KMT5Bc.2347C>T (p.Pro783Ser)
n.2912C>T
c.*2184C>T (n.*2184C>T)
c.*2227C>T (n.*2227C>T)
c.2044C>T (p.Pro682Ser)
c.*1768C>T (n.*1768C>T)
c.2560C>T (p.Pro854Ser)
c.1840C>T (p.Pro614Ser)
c.2491C>T (p.Pro831Ser)
c.1318C>T (p.Pro440Ser)
11g.68157786G>CCA381586100KMT5Bc.2347C>G (p.Pro783Ala)
n.2912C>G
c.*2184C>G (n.*2184C>G)
c.*2227C>G (n.*2227C>G)
c.2044C>G (p.Pro682Ala)
c.*1768C>G (n.*1768C>G)
c.2560C>G (p.Pro854Ala)
c.1840C>G (p.Pro614Ala)
c.2491C>G (p.Pro831Ala)
c.1318C>G (p.Pro440Ala)
dbSNP gnomAD v4
11g.68157786G=CA1980499866KMT5Bc.2347C= (p.Pro783=)
n.2912C=
c.*2184C= (n.*2184C=)
c.*2227C= (n.*2227C=)
c.2044C= (p.Pro682=)
c.*1768C= (n.*1768C=)
c.2560C= (p.Pro854=)
c.1840C= (p.Pro614=)
c.2491C= (p.Pro831=)
c.1318C= (p.Pro440=)
11g.68157786G>TCA381586105KMT5Bc.2347C>A (p.Pro783Thr)
n.2912C>A
c.*2184C>A (n.*2184C>A)
c.*2227C>A (n.*2227C>A)
c.2044C>A (p.Pro682Thr)
c.*1768C>A (n.*1768C>A)
c.2560C>A (p.Pro854Thr)
c.1840C>A (p.Pro614Thr)
c.2491C>A (p.Pro831Thr)
c.1318C>A (p.Pro440Thr)
11g.68157787A>CCA475514500KMT5Bc.2346T>G (p.Pro782=)
n.2911T>G
c.*2183T>G (n.*2183T>G)
c.*2226T>G (n.*2226T>G)
c.2043T>G (p.Pro681=)
c.*1767T>G (n.*1767T>G)
c.2559T>G (p.Pro853=)
c.1839T>G (p.Pro613=)
c.2490T>G (p.Pro830=)
c.1317T>G (p.Pro439=)
11g.68157787A>GCA475514501KMT5Bc.2346T>C (p.Pro782=)
n.2911T>C
c.*2183T>C (n.*2183T>C)
c.*2226T>C (n.*2226T>C)
c.2043T>C (p.Pro681=)
c.*1767T>C (n.*1767T>C)
c.2559T>C (p.Pro853=)
c.1839T>C (p.Pro613=)
c.2490T>C (p.Pro830=)
c.1317T>C (p.Pro439=)
gnomAD v4
11g.68157787A>TCA475514502KMT5Bc.2346T>A (p.Pro782=)
n.2911T>A
c.*2183T>A (n.*2183T>A)
c.*2226T>A (n.*2226T>A)
c.2043T>A (p.Pro681=)
c.*1767T>A (n.*1767T>A)
c.2559T>A (p.Pro853=)
c.1839T>A (p.Pro613=)
c.2490T>A (p.Pro830=)
c.1317T>A (p.Pro439=)
gnomAD v4
11g.68157788G>ACA381586111KMT5Bc.2345C>T (p.Pro782Leu)
n.2910C>T
c.*2182C>T (n.*2182C>T)
c.*2225C>T (n.*2225C>T)
c.2042C>T (p.Pro681Leu)
c.*1766C>T (n.*1766C>T)
c.2558C>T (p.Pro853Leu)
c.1838C>T (p.Pro613Leu)
c.2489C>T (p.Pro830Leu)
c.1316C>T (p.Pro439Leu)
COSMIC
11g.68157788G>CCA381586116KMT5Bc.2345C>G (p.Pro782Arg)
n.2910C>G
c.*2182C>G (n.*2182C>G)
c.*2225C>G (n.*2225C>G)
c.2042C>G (p.Pro681Arg)
c.*1766C>G (n.*1766C>G)
c.2558C>G (p.Pro853Arg)
c.1838C>G (p.Pro613Arg)
c.2489C>G (p.Pro830Arg)
c.1316C>G (p.Pro439Arg)
11g.68157788G>TCA381586120KMT5Bc.2345C>A (p.Pro782His)
n.2910C>A
c.*2182C>A (n.*2182C>A)
c.*2225C>A (n.*2225C>A)
c.2042C>A (p.Pro681His)
c.*1766C>A (n.*1766C>A)
c.2558C>A (p.Pro853His)
c.1838C>A (p.Pro613His)
c.2489C>A (p.Pro830His)
c.1316C>A (p.Pro439His)
11g.68157789G>ACA381586133KMT5Bc.2344C>T (p.Pro782Ser)
n.2909C>T
c.*2181C>T (n.*2181C>T)
c.*2224C>T (n.*2224C>T)
c.2041C>T (p.Pro681Ser)
c.*1765C>T (n.*1765C>T)
c.2557C>T (p.Pro853Ser)
c.1837C>T (p.Pro613Ser)
c.2488C>T (p.Pro830Ser)
c.1315C>T (p.Pro439Ser)
gnomAD v4
11g.68157789G>CCA381586138KMT5Bc.2344C>G (p.Pro782Ala)
n.2909C>G
c.*2181C>G (n.*2181C>G)
c.*2224C>G (n.*2224C>G)
c.2041C>G (p.Pro681Ala)
c.*1765C>G (n.*1765C>G)
c.2557C>G (p.Pro853Ala)
c.1837C>G (p.Pro613Ala)
c.2488C>G (p.Pro830Ala)
c.1315C>G (p.Pro439Ala)
11g.68157789G>TCA381586141KMT5Bc.2344C>A (p.Pro782Thr)
n.2909C>A
c.*2181C>A (n.*2181C>A)
c.*2224C>A (n.*2224C>A)
c.2041C>A (p.Pro681Thr)
c.*1765C>A (n.*1765C>A)
c.2557C>A (p.Pro853Thr)
c.1837C>A (p.Pro613Thr)
c.2488C>A (p.Pro830Thr)
c.1315C>A (p.Pro439Thr)
11g.68157790A>CCA475514505KMT5Bc.2343T>G (p.Leu781=)
n.2908T>G
c.*2180T>G (n.*2180T>G)
c.*2223T>G (n.*2223T>G)
c.2040T>G (p.Leu680=)
c.*1764T>G (n.*1764T>G)
c.2556T>G (p.Leu852=)
c.1836T>G (p.Leu612=)
c.2487T>G (p.Leu829=)
c.1314T>G (p.Leu438=)
11g.68157790A>GCA475514506KMT5Bc.2343T>C (p.Leu781=)
n.2908T>C
c.*2180T>C (n.*2180T>C)
c.*2223T>C (n.*2223T>C)
c.2040T>C (p.Leu680=)
c.*1764T>C (n.*1764T>C)
c.2556T>C (p.Leu852=)
c.1836T>C (p.Leu612=)
c.2487T>C (p.Leu829=)
c.1314T>C (p.Leu438=)
11g.68157790A>TCA475514507KMT5Bc.2343T>A (p.Leu781=)
n.2908T>A
c.*2180T>A (n.*2180T>A)
c.*2223T>A (n.*2223T>A)
c.2040T>A (p.Leu680=)
c.*1764T>A (n.*1764T>A)
c.2556T>A (p.Leu852=)
c.1836T>A (p.Leu612=)
c.2487T>A (p.Leu829=)
c.1314T>A (p.Leu438=)
11g.68157791A>CCA381586144KMT5Bc.2342T>G (p.Leu781Arg)
n.2907T>G
c.*2179T>G (n.*2179T>G)
c.*2222T>G (n.*2222T>G)
c.2039T>G (p.Leu680Arg)
c.*1763T>G (n.*1763T>G)
c.2555T>G (p.Leu852Arg)
c.1835T>G (p.Leu612Arg)
c.2486T>G (p.Leu829Arg)
c.1313T>G (p.Leu438Arg)
11g.68157791A>GCA381586145KMT5Bc.2342T>C (p.Leu781Pro)
n.2907T>C
c.*2179T>C (n.*2179T>C)
c.*2222T>C (n.*2222T>C)
c.2039T>C (p.Leu680Pro)
c.*1763T>C (n.*1763T>C)
c.2555T>C (p.Leu852Pro)
c.1835T>C (p.Leu612Pro)
c.2486T>C (p.Leu829Pro)
c.1313T>C (p.Leu438Pro)
11g.68157791A>TCA381586146KMT5Bc.2342T>A (p.Leu781His)
n.2907T>A
c.*2179T>A (n.*2179T>A)
c.*2222T>A (n.*2222T>A)
c.2039T>A (p.Leu680His)
c.*1763T>A (n.*1763T>A)
c.2555T>A (p.Leu852His)
c.1835T>A (p.Leu612His)
c.2486T>A (p.Leu829His)
c.1313T>A (p.Leu438His)
11g.68157792G>ACA381586148KMT5Bc.2341C>T (p.Leu781Phe)
n.2906C>T
c.*2178C>T (n.*2178C>T)
c.*2221C>T (n.*2221C>T)
c.2038C>T (p.Leu680Phe)
c.*1762C>T (n.*1762C>T)
c.2554C>T (p.Leu852Phe)
c.1834C>T (p.Leu612Phe)
c.2485C>T (p.Leu829Phe)
c.1312C>T (p.Leu438Phe)
gnomAD v4
11g.68157792G>CCA381586150KMT5Bc.2341C>G (p.Leu781Val)
n.2906C>G
c.*2178C>G (n.*2178C>G)
c.*2221C>G (n.*2221C>G)
c.2038C>G (p.Leu680Val)
c.*1762C>G (n.*1762C>G)
c.2554C>G (p.Leu852Val)
c.1834C>G (p.Leu612Val)
c.2485C>G (p.Leu829Val)
c.1312C>G (p.Leu438Val)
11g.68157792G>TCA381586147KMT5Bc.2341C>A (p.Leu781Ile)
n.2906C>A
c.*2178C>A (n.*2178C>A)
c.*2221C>A (n.*2221C>A)
c.2038C>A (p.Leu680Ile)
c.*1762C>A (n.*1762C>A)
c.2554C>A (p.Leu852Ile)
c.1834C>A (p.Leu612Ile)
c.2485C>A (p.Leu829Ile)
c.1312C>A (p.Leu438Ile)
11g.68157793A>CCA475514514KMT5Bc.2340T>G (p.Pro780=)
n.2905T>G
c.*2177T>G (n.*2177T>G)
c.*2220T>G (n.*2220T>G)
c.2037T>G (p.Pro679=)
c.*1761T>G (n.*1761T>G)
c.2553T>G (p.Pro851=)
c.1833T>G (p.Pro611=)
c.2484T>G (p.Pro828=)
c.1311T>G (p.Pro437=)
11g.68157793A>GCA475514513KMT5Bc.2340T>C (p.Pro780=)
n.2905T>C
c.*2177T>C (n.*2177T>C)
c.*2220T>C (n.*2220T>C)
c.2037T>C (p.Pro679=)
c.*1761T>C (n.*1761T>C)
c.2553T>C (p.Pro851=)
c.1833T>C (p.Pro611=)
c.2484T>C (p.Pro828=)
c.1311T>C (p.Pro437=)
11g.68157793A>TCA475514512KMT5Bc.2340T>A (p.Pro780=)
n.2905T>A
c.*2177T>A (n.*2177T>A)
c.*2220T>A (n.*2220T>A)
c.2037T>A (p.Pro679=)
c.*1761T>A (n.*1761T>A)
c.2553T>A (p.Pro851=)
c.1833T>A (p.Pro611=)
c.2484T>A (p.Pro828=)
c.1311T>A (p.Pro437=)
11g.68157794G>ACA381586155KMT5Bc.2339C>T (p.Pro780Leu)
n.2904C>T
c.*2176C>T (n.*2176C>T)
c.*2219C>T (n.*2219C>T)
c.2036C>T (p.Pro679Leu)
c.*1760C>T (n.*1760C>T)
c.2552C>T (p.Pro851Leu)
c.1832C>T (p.Pro611Leu)
c.2483C>T (p.Pro828Leu)
c.1310C>T (p.Pro437Leu)
COSMIC COSMIC
11g.68157794G>CCA381586152KMT5Bc.2339C>G (p.Pro780Arg)
n.2904C>G
c.*2176C>G (n.*2176C>G)
c.*2219C>G (n.*2219C>G)
c.2036C>G (p.Pro679Arg)
c.*1760C>G (n.*1760C>G)
c.2552C>G (p.Pro851Arg)
c.1832C>G (p.Pro611Arg)
c.2483C>G (p.Pro828Arg)
c.1310C>G (p.Pro437Arg)
11g.68157794G>TCA381586159KMT5Bc.2339C>A (p.Pro780His)
n.2904C>A
c.*2176C>A (n.*2176C>A)
c.*2219C>A (n.*2219C>A)
c.2036C>A (p.Pro679His)
c.*1760C>A (n.*1760C>A)
c.2552C>A (p.Pro851His)
c.1832C>A (p.Pro611His)
c.2483C>A (p.Pro828His)
c.1310C>A (p.Pro437His)
COSMIC COSMIC
11g.68157795G>ACA381586169KMT5Bc.2338C>T (p.Pro780Ser)
n.2903C>T
c.*2175C>T (n.*2175C>T)
c.*2218C>T (n.*2218C>T)
c.2035C>T (p.Pro679Ser)
c.*1759C>T (n.*1759C>T)
c.2551C>T (p.Pro851Ser)
c.1831C>T (p.Pro611Ser)
c.2482C>T (p.Pro828Ser)
c.1309C>T (p.Pro437Ser)
COSMIC COSMIC
11g.68157795G>CCA6147993KMT5Bc.2338C>G (p.Pro780Ala)
n.2903C>G
c.*2175C>G (n.*2175C>G)
c.*2218C>G (n.*2218C>G)
c.2035C>G (p.Pro679Ala)
c.*1759C>G (n.*1759C>G)
c.2551C>G (p.Pro851Ala)
c.1831C>G (p.Pro611Ala)
c.2482C>G (p.Pro828Ala)
c.1309C>G (p.Pro437Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.68157795G=CA1980499869KMT5Bc.2338C= (p.Pro780=)
n.2903C=
c.*2175C= (n.*2175C=)
c.*2218C= (n.*2218C=)
c.2035C= (p.Pro679=)
c.*1759C= (n.*1759C=)
c.2551C= (p.Pro851=)
c.1831C= (p.Pro611=)
c.2482C= (p.Pro828=)
c.1309C= (p.Pro437=)
11g.68157795G>TCA381586173KMT5Bc.2338C>A (p.Pro780Thr)
n.2903C>A
c.*2175C>A (n.*2175C>A)
c.*2218C>A (n.*2218C>A)
c.2035C>A (p.Pro679Thr)
c.*1759C>A (n.*1759C>A)
c.2551C>A (p.Pro851Thr)
c.1831C>A (p.Pro611Thr)
c.2482C>A (p.Pro828Thr)
c.1309C>A (p.Pro437Thr)
11g.68157796A=CA1980499873KMT5Bc.2337T= (p.Ile779=)
n.2902T=
c.*2174T= (n.*2174T=)
c.*2217T= (n.*2217T=)
c.2034T= (p.Ile678=)
c.*1758T= (n.*1758T=)
c.2550T= (p.Ile850=)
c.1830T= (p.Ile610=)
c.2481T= (p.Ile827=)
c.1308T= (p.Ile436=)
11g.68157796A>CCA381586179KMT5Bc.2337T>G (p.Ile779Met)
n.2902T>G
c.*2174T>G (n.*2174T>G)
c.*2217T>G (n.*2217T>G)
c.2034T>G (p.Ile678Met)
c.*1758T>G (n.*1758T>G)
c.2550T>G (p.Ile850Met)
c.1830T>G (p.Ile610Met)
c.2481T>G (p.Ile827Met)
c.1308T>G (p.Ile436Met)
11g.68157796A>GCA475514518KMT5Bc.2337T>C (p.Ile779=)
n.2902T>C
c.*2174T>C (n.*2174T>C)
c.*2217T>C (n.*2217T>C)
c.2034T>C (p.Ile678=)
c.*1758T>C (n.*1758T>C)
c.2550T>C (p.Ile850=)
c.1830T>C (p.Ile610=)
c.2481T>C (p.Ile827=)
c.1308T>C (p.Ile436=)
11g.68157796A>TCA475514520KMT5Bc.2337T>A (p.Ile779=)
n.2902T>A
c.*2174T>A (n.*2174T>A)
c.*2217T>A (n.*2217T>A)
c.2034T>A (p.Ile678=)
c.*1758T>A (n.*1758T>A)
c.2550T>A (p.Ile850=)
c.1830T>A (p.Ile610=)
c.2481T>A (p.Ile827=)
c.1308T>A (p.Ile436=)
dbSNP
11g.68157797A>CCA381586183KMT5Bc.2336T>G (p.Ile779Ser)
n.2901T>G
c.*2173T>G (n.*2173T>G)
c.*2216T>G (n.*2216T>G)
c.2033T>G (p.Ile678Ser)
c.*1757T>G (n.*1757T>G)
c.2549T>G (p.Ile850Ser)
c.1829T>G (p.Ile610Ser)
c.2480T>G (p.Ile827Ser)
c.1307T>G (p.Ile436Ser)
11g.68157797A>GCA381586187KMT5Bc.2336T>C (p.Ile779Thr)
n.2901T>C
c.*2173T>C (n.*2173T>C)
c.*2216T>C (n.*2216T>C)
c.2033T>C (p.Ile678Thr)
c.*1757T>C (n.*1757T>C)
c.2549T>C (p.Ile850Thr)
c.1829T>C (p.Ile610Thr)
c.2480T>C (p.Ile827Thr)
c.1307T>C (p.Ile436Thr)
11g.68157797A>TCA381586190KMT5Bc.2336T>A (p.Ile779Asn)
n.2901T>A
c.*2173T>A (n.*2173T>A)
c.*2216T>A (n.*2216T>A)
c.2033T>A (p.Ile678Asn)
c.*1757T>A (n.*1757T>A)
c.2549T>A (p.Ile850Asn)
c.1829T>A (p.Ile610Asn)
c.2480T>A (p.Ile827Asn)
c.1307T>A (p.Ile436Asn)
11g.68157798T>ACA381586212KMT5Bc.2335A>T (p.Ile779Phe)
n.2900A>T
c.*2172A>T (n.*2172A>T)
c.*2215A>T (n.*2215A>T)
c.2032A>T (p.Ile678Phe)
c.*1756A>T (n.*1756A>T)
c.2548A>T (p.Ile850Phe)
c.1828A>T (p.Ile610Phe)
c.2479A>T (p.Ile827Phe)
c.1306A>T (p.Ile436Phe)
11g.68157798T>CCA381586205KMT5Bc.2335A>G (p.Ile779Val)
n.2900A>G
c.*2172A>G (n.*2172A>G)
c.*2215A>G (n.*2215A>G)
c.2032A>G (p.Ile678Val)
c.*1756A>G (n.*1756A>G)
c.2548A>G (p.Ile850Val)
c.1828A>G (p.Ile610Val)
c.2479A>G (p.Ile827Val)
c.1306A>G (p.Ile436Val)
11g.68157798T>GCA381586210KMT5Bc.2335A>C (p.Ile779Leu)
n.2900A>C
c.*2172A>C (n.*2172A>C)
c.*2215A>C (n.*2215A>C)
c.2032A>C (p.Ile678Leu)
c.*1756A>C (n.*1756A>C)
c.2548A>C (p.Ile850Leu)
c.1828A>C (p.Ile610Leu)
c.2479A>C (p.Ile827Leu)
c.1306A>C (p.Ile436Leu)
11g.68157799A>CCA381586217KMT5Bc.2334T>G (p.Phe778Leu)
n.2899T>G
c.*2171T>G (n.*2171T>G)
c.*2214T>G (n.*2214T>G)
c.2031T>G (p.Phe677Leu)
c.*1755T>G (n.*1755T>G)
c.2547T>G (p.Phe849Leu)
c.1827T>G (p.Phe609Leu)
c.2478T>G (p.Phe826Leu)
c.1305T>G (p.Phe435Leu)
11g.68157799A>GCA475514526KMT5Bc.2334T>C (p.Phe778=)
n.2899T>C
c.*2171T>C (n.*2171T>C)
c.*2214T>C (n.*2214T>C)
c.2031T>C (p.Phe677=)
c.*1755T>C (n.*1755T>C)
c.2547T>C (p.Phe849=)
c.1827T>C (p.Phe609=)
c.2478T>C (p.Phe826=)
c.1305T>C (p.Phe435=)
11g.68157799A>TCA381586227KMT5Bc.2334T>A (p.Phe778Leu)
n.2899T>A
c.*2171T>A (n.*2171T>A)
c.*2214T>A (n.*2214T>A)
c.2031T>A (p.Phe677Leu)
c.*1755T>A (n.*1755T>A)
c.2547T>A (p.Phe849Leu)
c.1827T>A (p.Phe609Leu)
c.2478T>A (p.Phe826Leu)
c.1305T>A (p.Phe435Leu)
11g.68157800A>CCA381586233KMT5Bc.2333T>G (p.Phe778Cys)
n.2898T>G
c.*2170T>G (n.*2170T>G)
c.*2213T>G (n.*2213T>G)
c.2030T>G (p.Phe677Cys)
c.*1754T>G (n.*1754T>G)
c.2546T>G (p.Phe849Cys)
c.1826T>G (p.Phe609Cys)
c.2477T>G (p.Phe826Cys)
c.1304T>G (p.Phe435Cys)
11g.68157800A>GCA381586238KMT5Bc.2333T>C (p.Phe778Ser)
n.2898T>C
c.*2170T>C (n.*2170T>C)
c.*2213T>C (n.*2213T>C)
c.2030T>C (p.Phe677Ser)
c.*1754T>C (n.*1754T>C)
c.2546T>C (p.Phe849Ser)
c.1826T>C (p.Phe609Ser)
c.2477T>C (p.Phe826Ser)
c.1304T>C (p.Phe435Ser)
11g.68157800A>TCA381586241KMT5Bc.2333T>A (p.Phe778Tyr)
n.2898T>A
c.*2170T>A (n.*2170T>A)
c.*2213T>A (n.*2213T>A)
c.2030T>A (p.Phe677Tyr)
c.*1754T>A (n.*1754T>A)
c.2546T>A (p.Phe849Tyr)
c.1826T>A (p.Phe609Tyr)
c.2477T>A (p.Phe826Tyr)
c.1304T>A (p.Phe435Tyr)
11g.68157801A>CCA381586247KMT5Bc.2332T>G (p.Phe778Val)
n.2897T>G
c.*2169T>G (n.*2169T>G)
c.*2212T>G (n.*2212T>G)
c.2029T>G (p.Phe677Val)
c.*1753T>G (n.*1753T>G)
c.2545T>G (p.Phe849Val)
c.1825T>G (p.Phe609Val)
c.2476T>G (p.Phe826Val)
c.1303T>G (p.Phe435Val)
11g.68157801A>GCA381586251KMT5Bc.2332T>C (p.Phe778Leu)
n.2897T>C
c.*2169T>C (n.*2169T>C)
c.*2212T>C (n.*2212T>C)
c.2029T>C (p.Phe677Leu)
c.*1753T>C (n.*1753T>C)
c.2545T>C (p.Phe849Leu)
c.1825T>C (p.Phe609Leu)
c.2476T>C (p.Phe826Leu)
c.1303T>C (p.Phe435Leu)
11g.68157801A>TCA381586248KMT5Bc.2332T>A (p.Phe778Ile)
n.2897T>A
c.*2169T>A (n.*2169T>A)
c.*2212T>A (n.*2212T>A)
c.2029T>A (p.Phe677Ile)
c.*1753T>A (n.*1753T>A)
c.2545T>A (p.Phe849Ile)
c.1825T>A (p.Phe609Ile)
c.2476T>A (p.Phe826Ile)
c.1303T>A (p.Phe435Ile)
11g.68157802A=CA1980499882KMT5Bc.2331T= (p.Asp777=)
n.2896T=
c.*2168T= (n.*2168T=)
c.*2211T= (n.*2211T=)
c.2028T= (p.Asp676=)
c.*1752T= (n.*1752T=)
c.2544T= (p.Asp848=)
c.1824T= (p.Asp608=)
c.2475T= (p.Asp825=)
c.1302T= (p.Asp434=)
11g.68157802A>CCA381586252KMT5Bc.2331T>G (p.Asp777Glu)
n.2896T>G
c.*2168T>G (n.*2168T>G)
c.*2211T>G (n.*2211T>G)
c.2028T>G (p.Asp676Glu)
c.*1752T>G (n.*1752T>G)
c.2544T>G (p.Asp848Glu)
c.1824T>G (p.Asp608Glu)
c.2475T>G (p.Asp825Glu)
c.1302T>G (p.Asp434Glu)
gnomAD v4
11g.68157802A>GCA475514532KMT5Bc.2331T>C (p.Asp777=)
n.2896T>C
c.*2168T>C (n.*2168T>C)
c.*2211T>C (n.*2211T>C)
c.2028T>C (p.Asp676=)
c.*1752T>C (n.*1752T>C)
c.2544T>C (p.Asp848=)
c.1824T>C (p.Asp608=)
c.2475T>C (p.Asp825=)
c.1302T>C (p.Asp434=)
dbSNP gnomAD v3 gnomAD v4
11g.68157802A>TCA381586255KMT5Bc.2331T>A (p.Asp777Glu)
n.2896T>A
c.*2168T>A (n.*2168T>A)
c.*2211T>A (n.*2211T>A)
c.2028T>A (p.Asp676Glu)
c.*1752T>A (n.*1752T>A)
c.2544T>A (p.Asp848Glu)
c.1824T>A (p.Asp608Glu)
c.2475T>A (p.Asp825Glu)
c.1302T>A (p.Asp434Glu)
11g.68157803T>ACA381586259KMT5Bc.2330A>T (p.Asp777Val)
n.2895A>T
c.*2167A>T (n.*2167A>T)
c.*2210A>T (n.*2210A>T)
c.2027A>T (p.Asp676Val)
c.*1751A>T (n.*1751A>T)
c.2543A>T (p.Asp848Val)
c.1823A>T (p.Asp608Val)
c.2474A>T (p.Asp825Val)
c.1301A>T (p.Asp434Val)
11g.68157803T>CCA381586260KMT5Bc.2330A>G (p.Asp777Gly)
n.2895A>G
c.*2167A>G (n.*2167A>G)
c.*2210A>G (n.*2210A>G)
c.2027A>G (p.Asp676Gly)
c.*1751A>G (n.*1751A>G)
c.2543A>G (p.Asp848Gly)
c.1823A>G (p.Asp608Gly)
c.2474A>G (p.Asp825Gly)
c.1301A>G (p.Asp434Gly)
11g.68157803T>GCA381586262KMT5Bc.2330A>C (p.Asp777Ala)
n.2895A>C
c.*2167A>C (n.*2167A>C)
c.*2210A>C (n.*2210A>C)
c.2027A>C (p.Asp676Ala)
c.*1751A>C (n.*1751A>C)
c.2543A>C (p.Asp848Ala)
c.1823A>C (p.Asp608Ala)
c.2474A>C (p.Asp825Ala)
c.1301A>C (p.Asp434Ala)
11g.68157804C>ACA381586263KMT5Bc.2329G>T (p.Asp777Tyr)
n.2894G>T
c.*2166G>T (n.*2166G>T)
c.*2209G>T (n.*2209G>T)
c.2026G>T (p.Asp676Tyr)
c.*1750G>T (n.*1750G>T)
c.2542G>T (p.Asp848Tyr)
c.1822G>T (p.Asp608Tyr)
c.2473G>T (p.Asp825Tyr)
c.1300G>T (p.Asp434Tyr)
11g.68157804C>GCA381586267KMT5Bc.2329G>C (p.Asp777His)
n.2894G>C
c.*2166G>C (n.*2166G>C)
c.*2209G>C (n.*2209G>C)
c.2026G>C (p.Asp676His)
c.*1750G>C (n.*1750G>C)
c.2542G>C (p.Asp848His)
c.1822G>C (p.Asp608His)
c.2473G>C (p.Asp825His)
c.1300G>C (p.Asp434His)
11g.68157804C>TCA381586270KMT5Bc.2329G>A (p.Asp777Asn)
n.2894G>A
c.*2166G>A (n.*2166G>A)
c.*2209G>A (n.*2209G>A)
c.2026G>A (p.Asp676Asn)
c.*1750G>A (n.*1750G>A)
c.2542G>A (p.Asp848Asn)
c.1822G>A (p.Asp608Asn)
c.2473G>A (p.Asp825Asn)
c.1300G>A (p.Asp434Asn)
gnomAD v4
11g.68157805G>ACA6147994KMT5Bc.2328C>T (p.Asp776=)
n.2893C>T
c.*2165C>T (n.*2165C>T)
c.*2208C>T (n.*2208C>T)
c.2025C>T (p.Asp675=)
c.*1749C>T (n.*1749C>T)
c.2541C>T (p.Asp847=)
c.1821C>T (p.Asp607=)
c.2472C>T (p.Asp824=)
c.1299C>T (p.Asp433=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.68157805G>CCA381586276KMT5Bc.2328C>G (p.Asp776Glu)
n.2893C>G
c.*2165C>G (n.*2165C>G)
c.*2208C>G (n.*2208C>G)
c.2025C>G (p.Asp675Glu)
c.*1749C>G (n.*1749C>G)
c.2541C>G (p.Asp847Glu)
c.1821C>G (p.Asp607Glu)
c.2472C>G (p.Asp824Glu)
c.1299C>G (p.Asp433Glu)
11g.68157805G=CA1980499889KMT5Bc.2328C= (p.Asp776=)
n.2893C=
c.*2165C= (n.*2165C=)
c.*2208C= (n.*2208C=)
c.2025C= (p.Asp675=)
c.*1749C= (n.*1749C=)
c.2541C= (p.Asp847=)
c.1821C= (p.Asp607=)
c.2472C= (p.Asp824=)
c.1299C= (p.Asp433=)
11g.68157805G>TCA381586279KMT5Bc.2328C>A (p.Asp776Glu)
n.2893C>A
c.*2165C>A (n.*2165C>A)
c.*2208C>A (n.*2208C>A)
c.2025C>A (p.Asp675Glu)
c.*1749C>A (n.*1749C>A)
c.2541C>A (p.Asp847Glu)
c.1821C>A (p.Asp607Glu)
c.2472C>A (p.Asp824Glu)
c.1299C>A (p.Asp433Glu)
11g.68157806T>ACA381586285KMT5Bc.2327A>T (p.Asp776Val)
n.2892A>T
c.*2164A>T (n.*2164A>T)
c.*2207A>T (n.*2207A>T)
c.2024A>T (p.Asp675Val)
c.*1748A>T (n.*1748A>T)
c.2540A>T (p.Asp847Val)
c.1820A>T (p.Asp607Val)
c.2471A>T (p.Asp824Val)
c.1298A>T (p.Asp433Val)
11g.68157806T>CCA381586289KMT5Bc.2327A>G (p.Asp776Gly)
n.2892A>G
c.*2164A>G (n.*2164A>G)
c.*2207A>G (n.*2207A>G)
c.2024A>G (p.Asp675Gly)
c.*1748A>G (n.*1748A>G)
c.2540A>G (p.Asp847Gly)
c.1820A>G (p.Asp607Gly)
c.2471A>G (p.Asp824Gly)
c.1298A>G (p.Asp433Gly)
gnomAD v4
11g.68157806T>GCA381586287KMT5Bc.2327A>C (p.Asp776Ala)
n.2892A>C
c.*2164A>C (n.*2164A>C)
c.*2207A>C (n.*2207A>C)
c.2024A>C (p.Asp675Ala)
c.*1748A>C (n.*1748A>C)
c.2540A>C (p.Asp847Ala)
c.1820A>C (p.Asp607Ala)
c.2471A>C (p.Asp824Ala)
c.1298A>C (p.Asp433Ala)
11g.68157807C>ACA381586295KMT5Bc.2326G>T (p.Asp776Tyr)
n.2891G>T
c.*2163G>T (n.*2163G>T)
c.*2206G>T (n.*2206G>T)
c.2023G>T (p.Asp675Tyr)
c.*1747G>T (n.*1747G>T)
c.2539G>T (p.Asp847Tyr)
c.1819G>T (p.Asp607Tyr)
c.2470G>T (p.Asp824Tyr)
c.1297G>T (p.Asp433Tyr)
11g.68157807C>GCA381586298KMT5Bc.2326G>C (p.Asp776His)
n.2891G>C
c.*2163G>C (n.*2163G>C)
c.*2206G>C (n.*2206G>C)
c.2023G>C (p.Asp675His)
c.*1747G>C (n.*1747G>C)
c.2539G>C (p.Asp847His)
c.1819G>C (p.Asp607His)
c.2470G>C (p.Asp824His)
c.1297G>C (p.Asp433His)
11g.68157807C>TCA381586301KMT5Bc.2326G>A (p.Asp776Asn)
n.2891G>A
c.*2163G>A (n.*2163G>A)
c.*2206G>A (n.*2206G>A)
c.2023G>A (p.Asp675Asn)
c.*1747G>A (n.*1747G>A)
c.2539G>A (p.Asp847Asn)
c.1819G>A (p.Asp607Asn)
c.2470G>A (p.Asp824Asn)
c.1297G>A (p.Asp433Asn)
gnomAD v4
11g.68157808T>ACA381586304KMT5Bc.2325A>T (p.Glu775Asp)
n.2890A>T
c.*2162A>T (n.*2162A>T)
c.*2205A>T (n.*2205A>T)
c.2022A>T (p.Glu674Asp)
c.*1746A>T (n.*1746A>T)
c.2538A>T (p.Glu846Asp)
c.1818A>T (p.Glu606Asp)
c.2469A>T (p.Glu823Asp)
c.1296A>T (p.Glu432Asp)
11g.68157808T>CCA475514534KMT5Bc.2325A>G (p.Glu775=)
n.2890A>G
c.*2162A>G (n.*2162A>G)
c.*2205A>G (n.*2205A>G)
c.2022A>G (p.Glu674=)
c.*1746A>G (n.*1746A>G)
c.2538A>G (p.Glu846=)
c.1818A>G (p.Glu606=)
c.2469A>G (p.Glu823=)
c.1296A>G (p.Glu432=)
gnomAD v4
11g.68157808T>GCA381586305KMT5Bc.2325A>C (p.Glu775Asp)
n.2890A>C
c.*2162A>C (n.*2162A>C)
c.*2205A>C (n.*2205A>C)
c.2022A>C (p.Glu674Asp)
c.*1746A>C (n.*1746A>C)
c.2538A>C (p.Glu846Asp)
c.1818A>C (p.Glu606Asp)
c.2469A>C (p.Glu823Asp)
c.1296A>C (p.Glu432Asp)
dbSNP gnomAD v4
11g.68157808T=CA1980499898KMT5Bc.2325A= (p.Glu775=)
n.2890A=
c.*2162A= (n.*2162A=)
c.*2205A= (n.*2205A=)
c.2022A= (p.Glu674=)
c.*1746A= (n.*1746A=)
c.2538A= (p.Glu846=)
c.1818A= (p.Glu606=)
c.2469A= (p.Glu823=)
c.1296A= (p.Glu432=)
11g.68157809T>ACA381586308KMT5Bc.2324A>T (p.Glu775Val)
n.2889A>T
c.*2161A>T (n.*2161A>T)
c.*2204A>T (n.*2204A>T)
c.2021A>T (p.Glu674Val)
c.*1745A>T (n.*1745A>T)
c.2537A>T (p.Glu846Val)
c.1817A>T (p.Glu606Val)
c.2468A>T (p.Glu823Val)
c.1295A>T (p.Glu432Val)
11g.68157809T>CCA381586309KMT5Bc.2324A>G (p.Glu775Gly)
n.2889A>G
c.*2161A>G (n.*2161A>G)
c.*2204A>G (n.*2204A>G)
c.2021A>G (p.Glu674Gly)
c.*1745A>G (n.*1745A>G)
c.2537A>G (p.Glu846Gly)
c.1817A>G (p.Glu606Gly)
c.2468A>G (p.Glu823Gly)
c.1295A>G (p.Glu432Gly)
11g.68157809T>GCA381586315KMT5Bc.2324A>C (p.Glu775Ala)
n.2889A>C
c.*2161A>C (n.*2161A>C)
c.*2204A>C (n.*2204A>C)
c.2021A>C (p.Glu674Ala)
c.*1745A>C (n.*1745A>C)
c.2537A>C (p.Glu846Ala)
c.1817A>C (p.Glu606Ala)
c.2468A>C (p.Glu823Ala)
c.1295A>C (p.Glu432Ala)
11g.68157810C>ACA381586319KMT5Bc.2323G>T (p.Glu775Ter)
n.2888G>T
c.*2160G>T (n.*2160G>T)
c.*2203G>T (n.*2203G>T)
c.2020G>T (p.Glu674Ter)
c.*1744G>T (n.*1744G>T)
c.2536G>T (p.Glu846Ter)
c.1816G>T (p.Glu606Ter)
c.2467G>T (p.Glu823Ter)
c.1294G>T (p.Glu432Ter)
11g.68157810C=CA1980499901KMT5Bc.2323G= (p.Glu775=)
n.2888G=
c.*2160G= (n.*2160G=)
c.*2203G= (n.*2203G=)
c.2020G= (p.Glu674=)
c.*1744G= (n.*1744G=)
c.2536G= (p.Glu846=)
c.1816G= (p.Glu606=)
c.2467G= (p.Glu823=)
c.1294G= (p.Glu432=)
11g.68157810C>GCA381586323KMT5Bc.2323G>C (p.Glu775Gln)
n.2888G>C
c.*2160G>C (n.*2160G>C)
c.*2203G>C (n.*2203G>C)
c.2020G>C (p.Glu674Gln)
c.*1744G>C (n.*1744G>C)
c.2536G>C (p.Glu846Gln)
c.1816G>C (p.Glu606Gln)
c.2467G>C (p.Glu823Gln)
c.1294G>C (p.Glu432Gln)
gnomAD v4
11g.68157810C>TCA224247767KMT5Bc.2323G>A (p.Glu775Lys)
n.2888G>A
c.*2160G>A (n.*2160G>A)
c.*2203G>A (n.*2203G>A)
c.2020G>A (p.Glu674Lys)
c.*1744G>A (n.*1744G>A)
c.2536G>A (p.Glu846Lys)
c.1816G>A (p.Glu606Lys)
c.2467G>A (p.Glu823Lys)
c.1294G>A (p.Glu432Lys)
dbSNP gnomAD v4
11g.68157811A=CA1980499905KMT5Bc.2322T= (p.Phe774=)
n.2887T=
c.*2159T= (n.*2159T=)
c.*2202T= (n.*2202T=)
c.2019T= (p.Phe673=)
c.*1743T= (n.*1743T=)
c.2535T= (p.Phe845=)
c.1815T= (p.Phe605=)
c.2466T= (p.Phe822=)
c.1293T= (p.Phe431=)
11g.68157811A>CCA224247774KMT5Bc.2322T>G (p.Phe774Leu)
n.2887T>G
c.*2159T>G (n.*2159T>G)
c.*2202T>G (n.*2202T>G)
c.2019T>G (p.Phe673Leu)
c.*1743T>G (n.*1743T>G)
c.2535T>G (p.Phe845Leu)
c.1815T>G (p.Phe605Leu)
c.2466T>G (p.Phe822Leu)
c.1293T>G (p.Phe431Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68157811A>GCA6147995KMT5Bc.2322T>C (p.Phe774=)
n.2887T>C
c.*2159T>C (n.*2159T>C)
c.*2202T>C (n.*2202T>C)
c.2019T>C (p.Phe673=)
c.*1743T>C (n.*1743T>C)
c.2535T>C (p.Phe845=)
c.1815T>C (p.Phe605=)
c.2466T>C (p.Phe822=)
c.1293T>C (p.Phe431=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68157811A>TCA381586337KMT5Bc.2322T>A (p.Phe774Leu)
n.2887T>A
c.*2159T>A (n.*2159T>A)
c.*2202T>A (n.*2202T>A)
c.2019T>A (p.Phe673Leu)
c.*1743T>A (n.*1743T>A)
c.2535T>A (p.Phe845Leu)
c.1815T>A (p.Phe605Leu)
c.2466T>A (p.Phe822Leu)
c.1293T>A (p.Phe431Leu)
11g.68157812A>CCA381586343KMT5Bc.2321T>G (p.Phe774Cys)
n.2886T>G
c.*2158T>G (n.*2158T>G)
c.*2201T>G (n.*2201T>G)
c.2018T>G (p.Phe673Cys)
c.*1742T>G (n.*1742T>G)
c.2534T>G (p.Phe845Cys)
c.1814T>G (p.Phe605Cys)
c.2465T>G (p.Phe822Cys)
c.1292T>G (p.Phe431Cys)
11g.68157812A>GCA381586345KMT5Bc.2321T>C (p.Phe774Ser)
n.2886T>C
c.*2158T>C (n.*2158T>C)
c.*2201T>C (n.*2201T>C)
c.2018T>C (p.Phe673Ser)
c.*1742T>C (n.*1742T>C)
c.2534T>C (p.Phe845Ser)
c.1814T>C (p.Phe605Ser)
c.2465T>C (p.Phe822Ser)
c.1292T>C (p.Phe431Ser)
11g.68157812A>TCA381586349KMT5Bc.2321T>A (p.Phe774Tyr)
n.2886T>A
c.*2158T>A (n.*2158T>A)
c.*2201T>A (n.*2201T>A)
c.2018T>A (p.Phe673Tyr)
c.*1742T>A (n.*1742T>A)
c.2534T>A (p.Phe845Tyr)
c.1814T>A (p.Phe605Tyr)
c.2465T>A (p.Phe822Tyr)
c.1292T>A (p.Phe431Tyr)
11g.68157813A>CCA381586355KMT5Bc.2320T>G (p.Phe774Val)
n.2885T>G
c.*2157T>G (n.*2157T>G)
c.*2200T>G (n.*2200T>G)
c.2017T>G (p.Phe673Val)
c.*1741T>G (n.*1741T>G)
c.2533T>G (p.Phe845Val)
c.1813T>G (p.Phe605Val)
c.2464T>G (p.Phe822Val)
c.1291T>G (p.Phe431Val)
11g.68157813A>GCA381586358KMT5Bc.2320T>C (p.Phe774Leu)
n.2885T>C
c.*2157T>C (n.*2157T>C)
c.*2200T>C (n.*2200T>C)
c.2017T>C (p.Phe673Leu)
c.*1741T>C (n.*1741T>C)
c.2533T>C (p.Phe845Leu)
c.1813T>C (p.Phe605Leu)
c.2464T>C (p.Phe822Leu)
c.1291T>C (p.Phe431Leu)
11g.68157813A>TCA381586360KMT5Bc.2320T>A (p.Phe774Ile)
n.2885T>A
c.*2157T>A (n.*2157T>A)
c.*2200T>A (n.*2200T>A)
c.2017T>A (p.Phe673Ile)
c.*1741T>A (n.*1741T>A)
c.2533T>A (p.Phe845Ile)
c.1813T>A (p.Phe605Ile)
c.2464T>A (p.Phe822Ile)
c.1291T>A (p.Phe431Ile)
11g.68157814G>ACA475514544KMT5Bc.2319C>T (p.Asp773=)
n.2884C>T
c.*2156C>T (n.*2156C>T)
c.*2199C>T (n.*2199C>T)
c.2016C>T (p.Asp672=)
c.*1740C>T (n.*1740C>T)
c.2532C>T (p.Asp844=)
c.1812C>T (p.Asp604=)
c.2463C>T (p.Asp821=)
c.1290C>T (p.Asp430=)
dbSNP
11g.68157814G>CCA381586365KMT5Bc.2319C>G (p.Asp773Glu)
n.2884C>G
c.*2156C>G (n.*2156C>G)
c.*2199C>G (n.*2199C>G)
c.2016C>G (p.Asp672Glu)
c.*1740C>G (n.*1740C>G)
c.2532C>G (p.Asp844Glu)
c.1812C>G (p.Asp604Glu)
c.2463C>G (p.Asp821Glu)
c.1290C>G (p.Asp430Glu)
11g.68157814G=CA1980499914KMT5Bc.2319C= (p.Asp773=)
n.2884C=
c.*2156C= (n.*2156C=)
c.*2199C= (n.*2199C=)
c.2016C= (p.Asp672=)
c.*1740C= (n.*1740C=)
c.2532C= (p.Asp844=)
c.1812C= (p.Asp604=)
c.2463C= (p.Asp821=)
c.1290C= (p.Asp430=)
11g.68157814G>TCA381586366KMT5Bc.2319C>A (p.Asp773Glu)
n.2884C>A
c.*2156C>A (n.*2156C>A)
c.*2199C>A (n.*2199C>A)
c.2016C>A (p.Asp672Glu)
c.*1740C>A (n.*1740C>A)
c.2532C>A (p.Asp844Glu)
c.1812C>A (p.Asp604Glu)
c.2463C>A (p.Asp821Glu)
c.1290C>A (p.Asp430Glu)
11g.68157814_68157817delinsGTCACA1980499912KMT5Bc.2316_2319delinsTGAC (p.Asp772=)
n.2881_2884delinsTGAC
c.*2153_*2156delinsTGAC (n.*2153_*2156delinsTGAC)
c.*2196_*2199delinsTGAC (n.*2196_*2199delinsTGAC)
c.2013_2016delinsTGAC (p.Asp671=)
c.*1737_*1740delinsTGAC (n.*1737_*1740delinsTGAC)
c.2529_2532delinsTGAC (p.Asp843=)
c.1809_1812delinsTGAC (p.Asp603=)
c.2460_2463delinsTGAC (p.Asp820=)
c.1287_1290delinsTGAC (p.Asp429=)
11g.68157815T>ACA224247794KMT5Bc.2318A>T (p.Asp773Val)
n.2883A>T
c.*2155A>T (n.*2155A>T)
c.*2198A>T (n.*2198A>T)
c.2015A>T (p.Asp672Val)
c.*1739A>T (n.*1739A>T)
c.2531A>T (p.Asp844Val)
c.1811A>T (p.Asp604Val)
c.2462A>T (p.Asp821Val)
c.1289A>T (p.Asp430Val)
dbSNP gnomAD v4
11g.68157815T>CCA6147997KMT5Bc.2318A>G (p.Asp773Gly)
n.2883A>G
c.*2155A>G (n.*2155A>G)
c.*2198A>G (n.*2198A>G)
c.2015A>G (p.Asp672Gly)
c.*1739A>G (n.*1739A>G)
c.2531A>G (p.Asp844Gly)
c.1811A>G (p.Asp604Gly)
c.2462A>G (p.Asp821Gly)
c.1289A>G (p.Asp430Gly)
dbSNP ExAC
11g.68157815T>GCA381586374KMT5Bc.2318A>C (p.Asp773Ala)
n.2883A>C
c.*2155A>C (n.*2155A>C)
c.*2198A>C (n.*2198A>C)
c.2015A>C (p.Asp672Ala)
c.*1739A>C (n.*1739A>C)
c.2531A>C (p.Asp844Ala)
c.1811A>C (p.Asp604Ala)
c.2462A>C (p.Asp821Ala)
c.1289A>C (p.Asp430Ala)
11g.68157815T=CA1980499929KMT5Bc.2318A= (p.Asp773=)
n.2883A=
c.*2155A= (n.*2155A=)
c.*2198A= (n.*2198A=)
c.2015A= (p.Asp672=)
c.*1739A= (n.*1739A=)
c.2531A= (p.Asp844=)
c.1811A= (p.Asp604=)
c.2462A= (p.Asp821=)
c.1289A= (p.Asp430=)
11g.68157822_68157824dupCA1980499937KMT5Bc.2316_2318dup (p.Asp773_Phe774insAsp)
n.2881_2883dup
c.*2153_*2155dup (n.*2153_*2155dup)
c.*2196_*2198dup (n.*2196_*2198dup)
c.2013_2015dup (p.Asp672_Phe673insAsp)
c.*1737_*1739dup (n.*1737_*1739dup)
c.2529_2531dup (p.Asp844_Phe845insAsp)
c.1809_1811dup (p.Asp604_Phe605insAsp)
c.2460_2462dup (p.Asp821_Phe822insAsp)
c.1287_1289dup (p.Asp430_Phe431insAsp)
dbSNP
11g.68157822_68157824delCA6147996KMT5Bc.2316_2318del (p.Asp773del)
n.2881_2883del
c.*2153_*2155del (n.*2153_*2155del)
c.*2196_*2198del (n.*2196_*2198del)
c.2013_2015del (p.Asp672del)
c.*1737_*1739del (n.*1737_*1739del)
c.2529_2531del (p.Asp844del)
c.1809_1811del (p.Asp604del)
c.2460_2462del (p.Asp821del)
c.1287_1289del (p.Asp430del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68157816C>ACA381586392KMT5Bc.2317G>T (p.Asp773Tyr)
n.2882G>T
c.*2154G>T (n.*2154G>T)
c.*2197G>T (n.*2197G>T)
c.2014G>T (p.Asp672Tyr)
c.*1738G>T (n.*1738G>T)
c.2530G>T (p.Asp844Tyr)
c.1810G>T (p.Asp604Tyr)
c.2461G>T (p.Asp821Tyr)
c.1288G>T (p.Asp430Tyr)
11g.68157816C>GCA381586389KMT5Bc.2317G>C (p.Asp773His)
n.2882G>C
c.*2154G>C (n.*2154G>C)
c.*2197G>C (n.*2197G>C)
c.2014G>C (p.Asp672His)
c.*1738G>C (n.*1738G>C)
c.2530G>C (p.Asp844His)
c.1810G>C (p.Asp604His)
c.2461G>C (p.Asp821His)
c.1288G>C (p.Asp430His)
11g.68157816C>TCA381586395KMT5Bc.2317G>A (p.Asp773Asn)
n.2882G>A
c.*2154G>A (n.*2154G>A)
c.*2197G>A (n.*2197G>A)
c.2014G>A (p.Asp672Asn)
c.*1738G>A (n.*1738G>A)
c.2530G>A (p.Asp844Asn)
c.1810G>A (p.Asp604Asn)
c.2461G>A (p.Asp821Asn)
c.1288G>A (p.Asp430Asn)
11g.68157817A>CCA381586402KMT5Bc.2316T>G (p.Asp772Glu)
n.2881T>G
c.*2153T>G (n.*2153T>G)
c.*2196T>G (n.*2196T>G)
c.2013T>G (p.Asp671Glu)
c.*1737T>G (n.*1737T>G)
c.2529T>G (p.Asp843Glu)
c.1809T>G (p.Asp603Glu)
c.2460T>G (p.Asp820Glu)
c.1287T>G (p.Asp429Glu)
11g.68157817A>GCA475514548KMT5Bc.2316T>C (p.Asp772=)
n.2881T>C
c.*2153T>C (n.*2153T>C)
c.*2196T>C (n.*2196T>C)
c.2013T>C (p.Asp671=)
c.*1737T>C (n.*1737T>C)
c.2529T>C (p.Asp843=)
c.1809T>C (p.Asp603=)
c.2460T>C (p.Asp820=)
c.1287T>C (p.Asp429=)
11g.68157817A>TCA381586404KMT5Bc.2316T>A (p.Asp772Glu)
n.2881T>A
c.*2153T>A (n.*2153T>A)
c.*2196T>A (n.*2196T>A)
c.2013T>A (p.Asp671Glu)
c.*1737T>A (n.*1737T>A)
c.2529T>A (p.Asp843Glu)
c.1809T>A (p.Asp603Glu)
c.2460T>A (p.Asp820Glu)
c.1287T>A (p.Asp429Glu)
gnomAD v4
11g.68157818T>ACA381586416KMT5Bc.2315A>T (p.Asp772Val)
n.2880A>T
c.*2152A>T (n.*2152A>T)
c.*2195A>T (n.*2195A>T)
c.2012A>T (p.Asp671Val)
c.*1736A>T (n.*1736A>T)
c.2528A>T (p.Asp843Val)
c.1808A>T (p.Asp603Val)
c.2459A>T (p.Asp820Val)
c.1286A>T (p.Asp429Val)
11g.68157818T>CCA381586426KMT5Bc.2315A>G (p.Asp772Gly)
n.2880A>G
c.*2152A>G (n.*2152A>G)
c.*2195A>G (n.*2195A>G)
c.2012A>G (p.Asp671Gly)
c.*1736A>G (n.*1736A>G)
c.2528A>G (p.Asp843Gly)
c.1808A>G (p.Asp603Gly)
c.2459A>G (p.Asp820Gly)
c.1286A>G (p.Asp429Gly)
11g.68157818T>GCA381586427KMT5Bc.2315A>C (p.Asp772Ala)
n.2880A>C
c.*2152A>C (n.*2152A>C)
c.*2195A>C (n.*2195A>C)
c.2012A>C (p.Asp671Ala)
c.*1736A>C (n.*1736A>C)
c.2528A>C (p.Asp843Ala)
c.1808A>C (p.Asp603Ala)
c.2459A>C (p.Asp820Ala)
c.1286A>C (p.Asp429Ala)
11g.68157819C>ACA381586436KMT5Bc.2314G>T (p.Asp772Tyr)
n.2879G>T
c.*2151G>T (n.*2151G>T)
c.*2194G>T (n.*2194G>T)
c.2011G>T (p.Asp671Tyr)
c.*1735G>T (n.*1735G>T)
c.2527G>T (p.Asp843Tyr)
c.1807G>T (p.Asp603Tyr)
c.2458G>T (p.Asp820Tyr)
c.1285G>T (p.Asp429Tyr)
11g.68157819C>GCA381586430KMT5Bc.2314G>C (p.Asp772His)
n.2879G>C
c.*2151G>C (n.*2151G>C)
c.*2194G>C (n.*2194G>C)
c.2011G>C (p.Asp671His)
c.*1735G>C (n.*1735G>C)
c.2527G>C (p.Asp843His)
c.1807G>C (p.Asp603His)
c.2458G>C (p.Asp820His)
c.1285G>C (p.Asp429His)
11g.68157819C>TCA381586434KMT5Bc.2314G>A (p.Asp772Asn)
n.2879G>A
c.*2151G>A (n.*2151G>A)
c.*2194G>A (n.*2194G>A)
c.2011G>A (p.Asp671Asn)
c.*1735G>A (n.*1735G>A)
c.2527G>A (p.Asp843Asn)
c.1807G>A (p.Asp603Asn)
c.2458G>A (p.Asp820Asn)
c.1285G>A (p.Asp429Asn)
11g.68157820A>CCA381586441KMT5Bc.2313T>G (p.Asp771Glu)
n.2878T>G
c.*2150T>G (n.*2150T>G)
c.*2193T>G (n.*2193T>G)
c.2010T>G (p.Asp670Glu)
c.*1734T>G (n.*1734T>G)
c.2526T>G (p.Asp842Glu)
c.1806T>G (p.Asp602Glu)
c.2457T>G (p.Asp819Glu)
c.1284T>G (p.Asp428Glu)
11g.68157820A>GCA475514553KMT5Bc.2313T>C (p.Asp771=)
n.2878T>C
c.*2150T>C (n.*2150T>C)
c.*2193T>C (n.*2193T>C)
c.2010T>C (p.Asp670=)
c.*1734T>C (n.*1734T>C)
c.2526T>C (p.Asp842=)
c.1806T>C (p.Asp602=)
c.2457T>C (p.Asp819=)
c.1284T>C (p.Asp428=)
11g.68157820A>TCA381586446KMT5Bc.2313T>A (p.Asp771Glu)
n.2878T>A
c.*2150T>A (n.*2150T>A)
c.*2193T>A (n.*2193T>A)
c.2010T>A (p.Asp670Glu)
c.*1734T>A (n.*1734T>A)
c.2526T>A (p.Asp842Glu)
c.1806T>A (p.Asp602Glu)
c.2457T>A (p.Asp819Glu)
c.1284T>A (p.Asp428Glu)
11g.68157821T>ACA224247800KMT5Bc.2312A>T (p.Asp771Val)
n.2877A>T
c.*2149A>T (n.*2149A>T)
c.*2192A>T (n.*2192A>T)
c.2009A>T (p.Asp670Val)
c.*1733A>T (n.*1733A>T)
c.2525A>T (p.Asp842Val)
c.1805A>T (p.Asp602Val)
c.2456A>T (p.Asp819Val)
c.1283A>T (p.Asp428Val)
dbSNP gnomAD v4
11g.68157821T>CCA381586454KMT5Bc.2312A>G (p.Asp771Gly)
n.2877A>G
c.*2149A>G (n.*2149A>G)
c.*2192A>G (n.*2192A>G)
c.2009A>G (p.Asp670Gly)
c.*1733A>G (n.*1733A>G)
c.2525A>G (p.Asp842Gly)
c.1805A>G (p.Asp602Gly)
c.2456A>G (p.Asp819Gly)
c.1283A>G (p.Asp428Gly)
11g.68157821T>GCA381586461KMT5Bc.2312A>C (p.Asp771Ala)
n.2877A>C
c.*2149A>C (n.*2149A>C)
c.*2192A>C (n.*2192A>C)
c.2009A>C (p.Asp670Ala)
c.*1733A>C (n.*1733A>C)
c.2525A>C (p.Asp842Ala)
c.1805A>C (p.Asp602Ala)
c.2456A>C (p.Asp819Ala)
c.1283A>C (p.Asp428Ala)
11g.68157821T=CA1980499945KMT5Bc.2312A= (p.Asp771=)
n.2877A=
c.*2149A= (n.*2149A=)
c.*2192A= (n.*2192A=)
c.2009A= (p.Asp670=)
c.*1733A= (n.*1733A=)
c.2525A= (p.Asp842=)
c.1805A= (p.Asp602=)
c.2456A= (p.Asp819=)
c.1283A= (p.Asp428=)
11g.68157822C>ACA6147998KMT5Bc.2311G>T (p.Asp771Tyr)
n.2876G>T
c.*2148G>T (n.*2148G>T)
c.*2191G>T (n.*2191G>T)
c.2008G>T (p.Asp670Tyr)
c.*1732G>T (n.*1732G>T)
c.2524G>T (p.Asp842Tyr)
c.1804G>T (p.Asp602Tyr)
c.2455G>T (p.Asp819Tyr)
c.1282G>T (p.Asp428Tyr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68157822C=CA1980499948KMT5Bc.2311G= (p.Asp771=)
n.2876G=
c.*2148G= (n.*2148G=)
c.*2191G= (n.*2191G=)
c.2008G= (p.Asp670=)
c.*1732G= (n.*1732G=)
c.2524G= (p.Asp842=)
c.1804G= (p.Asp602=)
c.2455G= (p.Asp819=)
c.1282G= (p.Asp428=)
11g.68157822C>GCA381586464KMT5Bc.2311G>C (p.Asp771His)
n.2876G>C
c.*2148G>C (n.*2148G>C)
c.*2191G>C (n.*2191G>C)
c.2008G>C (p.Asp670His)
c.*1732G>C (n.*1732G>C)
c.2524G>C (p.Asp842His)
c.1804G>C (p.Asp602His)
c.2455G>C (p.Asp819His)
c.1282G>C (p.Asp428His)
11g.68157822C>TCA381586465KMT5Bc.2311G>A (p.Asp771Asn)
n.2876G>A
c.*2148G>A (n.*2148G>A)
c.*2191G>A (n.*2191G>A)
c.2008G>A (p.Asp670Asn)
c.*1732G>A (n.*1732G>A)
c.2524G>A (p.Asp842Asn)
c.1804G>A (p.Asp602Asn)
c.2455G>A (p.Asp819Asn)
c.1282G>A (p.Asp428Asn)
11g.68157823A=CA1980499951KMT5Bc.2310T= (p.Tyr770=)
n.2875T=
c.*2147T= (n.*2147T=)
c.*2190T= (n.*2190T=)
c.2007T= (p.Tyr669=)
c.*1731T= (n.*1731T=)
c.2523T= (p.Tyr841=)
c.1803T= (p.Tyr601=)
c.2454T= (p.Tyr818=)
c.1281T= (p.Tyr427=)
11g.68157823A>CCA381586466KMT5Bc.2310T>G (p.Tyr770Ter)
n.2875T>G
c.*2147T>G (n.*2147T>G)
c.*2190T>G (n.*2190T>G)
c.2007T>G (p.Tyr669Ter)
c.*1731T>G (n.*1731T>G)
c.2523T>G (p.Tyr841Ter)
c.1803T>G (p.Tyr601Ter)
c.2454T>G (p.Tyr818Ter)
c.1281T>G (p.Tyr427Ter)
11g.68157823A>GCA475514558KMT5Bc.2310T>C (p.Tyr770=)
n.2875T>C
c.*2147T>C (n.*2147T>C)
c.*2190T>C (n.*2190T>C)
c.2007T>C (p.Tyr669=)
c.*1731T>C (n.*1731T>C)
c.2523T>C (p.Tyr841=)
c.1803T>C (p.Tyr601=)
c.2454T>C (p.Tyr818=)
c.1281T>C (p.Tyr427=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68157823A>TCA381586470KMT5Bc.2310T>A (p.Tyr770Ter)
n.2875T>A
c.*2147T>A (n.*2147T>A)
c.*2190T>A (n.*2190T>A)
c.2007T>A (p.Tyr669Ter)
c.*1731T>A (n.*1731T>A)
c.2523T>A (p.Tyr841Ter)
c.1803T>A (p.Tyr601Ter)
c.2454T>A (p.Tyr818Ter)
c.1281T>A (p.Tyr427Ter)
11g.68157824T>ACA381586474KMT5Bc.2309A>T (p.Tyr770Phe)
n.2874A>T
c.*2146A>T (n.*2146A>T)
c.*2189A>T (n.*2189A>T)
c.2006A>T (p.Tyr669Phe)
c.*1730A>T (n.*1730A>T)
c.2522A>T (p.Tyr841Phe)
c.1802A>T (p.Tyr601Phe)
c.2453A>T (p.Tyr818Phe)
c.1280A>T (p.Tyr427Phe)
11g.68157824T>CCA381586479KMT5Bc.2309A>G (p.Tyr770Cys)
n.2874A>G
c.*2146A>G (n.*2146A>G)
c.*2189A>G (n.*2189A>G)
c.2006A>G (p.Tyr669Cys)
c.*1730A>G (n.*1730A>G)
c.2522A>G (p.Tyr841Cys)
c.1802A>G (p.Tyr601Cys)
c.2453A>G (p.Tyr818Cys)
c.1280A>G (p.Tyr427Cys)
dbSNP gnomAD v3 gnomAD v4
11g.68157824T>GCA381586481KMT5Bc.2309A>C (p.Tyr770Ser)
n.2874A>C
c.*2146A>C (n.*2146A>C)
c.*2189A>C (n.*2189A>C)
c.2006A>C (p.Tyr669Ser)
c.*1730A>C (n.*1730A>C)
c.2522A>C (p.Tyr841Ser)
c.1802A>C (p.Tyr601Ser)
c.2453A>C (p.Tyr818Ser)
c.1280A>C (p.Tyr427Ser)
11g.68157824T=CA1980499956KMT5Bc.2309A= (p.Tyr770=)
n.2874A=
c.*2146A= (n.*2146A=)
c.*2189A= (n.*2189A=)
c.2006A= (p.Tyr669=)
c.*1730A= (n.*1730A=)
c.2522A= (p.Tyr841=)
c.1802A= (p.Tyr601=)
c.2453A= (p.Tyr818=)
c.1280A= (p.Tyr427=)
11g.68157825A=CA1980499966KMT5Bc.2308T= (p.Tyr770=)
n.2873T=
c.*2145T= (n.*2145T=)
c.*2188T= (n.*2188T=)
c.2005T= (p.Tyr669=)
c.*1729T= (n.*1729T=)
c.2521T= (p.Tyr841=)
c.1801T= (p.Tyr601=)
c.2452T= (p.Tyr818=)
c.1279T= (p.Tyr427=)
11g.68157825A>CCA381586485KMT5Bc.2308T>G (p.Tyr770Asp)
n.2873T>G
c.*2145T>G (n.*2145T>G)
c.*2188T>G (n.*2188T>G)
c.2005T>G (p.Tyr669Asp)
c.*1729T>G (n.*1729T>G)
c.2521T>G (p.Tyr841Asp)
c.1801T>G (p.Tyr601Asp)
c.2452T>G (p.Tyr818Asp)
c.1279T>G (p.Tyr427Asp)
11g.68157825A>GCA381586486KMT5Bc.2308T>C (p.Tyr770His)
n.2873T>C
c.*2145T>C (n.*2145T>C)
c.*2188T>C (n.*2188T>C)
c.2005T>C (p.Tyr669His)
c.*1729T>C (n.*1729T>C)
c.2521T>C (p.Tyr841His)
c.1801T>C (p.Tyr601His)
c.2452T>C (p.Tyr818His)
c.1279T>C (p.Tyr427His)
dbSNP gnomAD v2 gnomAD v4
11g.68157825A>TCA381586487KMT5Bc.2308T>A (p.Tyr770Asn)
n.2873T>A
c.*2145T>A (n.*2145T>A)
c.*2188T>A (n.*2188T>A)
c.2005T>A (p.Tyr669Asn)
c.*1729T>A (n.*1729T>A)
c.2521T>A (p.Tyr841Asn)
c.1801T>A (p.Tyr601Asn)
c.2452T>A (p.Tyr818Asn)
c.1279T>A (p.Tyr427Asn)
11g.68157826G>ACA475514574KMT5Bc.2307C>T (p.Asp769=)
n.2872C>T
c.*2144C>T (n.*2144C>T)
c.*2187C>T (n.*2187C>T)
c.2004C>T (p.Asp668=)
c.*1728C>T (n.*1728C>T)
c.2520C>T (p.Asp840=)
c.1800C>T (p.Asp600=)
c.2451C>T (p.Asp817=)
c.1278C>T (p.Asp426=)
gnomAD v4
11g.68157826G>CCA381586488KMT5Bc.2307C>G (p.Asp769Glu)
n.2872C>G
c.*2144C>G (n.*2144C>G)
c.*2187C>G (n.*2187C>G)
c.2004C>G (p.Asp668Glu)
c.*1728C>G (n.*1728C>G)
c.2520C>G (p.Asp840Glu)
c.1800C>G (p.Asp600Glu)
c.2451C>G (p.Asp817Glu)
c.1278C>G (p.Asp426Glu)
11g.68157826G>TCA381586490KMT5Bc.2307C>A (p.Asp769Glu)
n.2872C>A
c.*2144C>A (n.*2144C>A)
c.*2187C>A (n.*2187C>A)
c.2004C>A (p.Asp668Glu)
c.*1728C>A (n.*1728C>A)
c.2520C>A (p.Asp840Glu)
c.1800C>A (p.Asp600Glu)
c.2451C>A (p.Asp817Glu)
c.1278C>A (p.Asp426Glu)
11g.68157827T>ACA381586494KMT5Bc.2306A>T (p.Asp769Val)
n.2871A>T
c.*2143A>T (n.*2143A>T)
c.*2186A>T (n.*2186A>T)
c.2003A>T (p.Asp668Val)
c.*1727A>T (n.*1727A>T)
c.2519A>T (p.Asp840Val)
c.1799A>T (p.Asp600Val)
c.2450A>T (p.Asp817Val)
c.1277A>T (p.Asp426Val)
11g.68157827T>CCA381586497KMT5Bc.2306A>G (p.Asp769Gly)
n.2871A>G
c.*2143A>G (n.*2143A>G)
c.*2186A>G (n.*2186A>G)
c.2003A>G (p.Asp668Gly)
c.*1727A>G (n.*1727A>G)
c.2519A>G (p.Asp840Gly)
c.1799A>G (p.Asp600Gly)
c.2450A>G (p.Asp817Gly)
c.1277A>G (p.Asp426Gly)
11g.68157827T>GCA381586501KMT5Bc.2306A>C (p.Asp769Ala)
n.2871A>C
c.*2143A>C (n.*2143A>C)
c.*2186A>C (n.*2186A>C)
c.2003A>C (p.Asp668Ala)
c.*1727A>C (n.*1727A>C)
c.2519A>C (p.Asp840Ala)
c.1799A>C (p.Asp600Ala)
c.2450A>C (p.Asp817Ala)
c.1277A>C (p.Asp426Ala)
11g.68157828C>ACA381586508KMT5Bc.2305G>T (p.Asp769Tyr)
n.2870G>T
c.*2142G>T (n.*2142G>T)
c.*2185G>T (n.*2185G>T)
c.2002G>T (p.Asp668Tyr)
c.*1726G>T (n.*1726G>T)
c.2518G>T (p.Asp840Tyr)
c.1798G>T (p.Asp600Tyr)
c.2449G>T (p.Asp817Tyr)
c.1276G>T (p.Asp426Tyr)
11g.68157828C>GCA381586515KMT5Bc.2305G>C (p.Asp769His)
n.2870G>C
c.*2142G>C (n.*2142G>C)
c.*2185G>C (n.*2185G>C)
c.2002G>C (p.Asp668His)
c.*1726G>C (n.*1726G>C)
c.2518G>C (p.Asp840His)
c.1798G>C (p.Asp600His)
c.2449G>C (p.Asp817His)
c.1276G>C (p.Asp426His)
11g.68157828C>TCA381586514KMT5Bc.2305G>A (p.Asp769Asn)
n.2870G>A
c.*2142G>A (n.*2142G>A)
c.*2185G>A (n.*2185G>A)
c.2002G>A (p.Asp668Asn)
c.*1726G>A (n.*1726G>A)
c.2518G>A (p.Asp840Asn)
c.1798G>A (p.Asp600Asn)
c.2449G>A (p.Asp817Asn)
c.1276G>A (p.Asp426Asn)
11g.68157829A>CCA381586518KMT5Bc.2304T>G (p.Asp768Glu)
n.2869T>G
c.*2141T>G (n.*2141T>G)
c.*2184T>G (n.*2184T>G)
c.2001T>G (p.Asp667Glu)
c.*1725T>G (n.*1725T>G)
c.2517T>G (p.Asp839Glu)
c.1797T>G (p.Asp599Glu)
c.2448T>G (p.Asp816Glu)
c.1275T>G (p.Asp425Glu)
11g.68157829A>GCA475514579KMT5Bc.2304T>C (p.Asp768=)
n.2869T>C
c.*2141T>C (n.*2141T>C)
c.*2184T>C (n.*2184T>C)
c.2001T>C (p.Asp667=)
c.*1725T>C (n.*1725T>C)
c.2517T>C (p.Asp839=)
c.1797T>C (p.Asp599=)
c.2448T>C (p.Asp816=)
c.1275T>C (p.Asp425=)
11g.68157829A>TCA381586522KMT5Bc.2304T>A (p.Asp768Glu)
n.2869T>A
c.*2141T>A (n.*2141T>A)
c.*2184T>A (n.*2184T>A)
c.2001T>A (p.Asp667Glu)
c.*1725T>A (n.*1725T>A)
c.2517T>A (p.Asp839Glu)
c.1797T>A (p.Asp599Glu)
c.2448T>A (p.Asp816Glu)
c.1275T>A (p.Asp425Glu)
11g.68157829_68157832delinsATCCCA1980499971KMT5Bc.2301_2304delinsGGAT (p.Glu767=)
n.2866_2869delinsGGAT
c.*2138_*2141delinsGGAT (n.*2138_*2141delinsGGAT)
c.*2181_*2184delinsGGAT (n.*2181_*2184delinsGGAT)
c.1998_2001delinsGGAT (p.Glu666=)
c.*1722_*1725delinsGGAT (n.*1722_*1725delinsGGAT)
c.2514_2517delinsGGAT (p.Glu838=)
c.1794_1797delinsGGAT (p.Glu598=)
c.2445_2448delinsGGAT (p.Glu815=)
c.1272_1275delinsGGAT (p.Glu424=)
11g.68157830T>ACA381586525KMT5Bc.2303A>T (p.Asp768Val)
n.2868A>T
c.*2140A>T (n.*2140A>T)
c.*2183A>T (n.*2183A>T)
c.2000A>T (p.Asp667Val)
c.*1724A>T (n.*1724A>T)
c.2516A>T (p.Asp839Val)
c.1796A>T (p.Asp599Val)
c.2447A>T (p.Asp816Val)
c.1274A>T (p.Asp425Val)
11g.68157830T>CCA381586526KMT5Bc.2303A>G (p.Asp768Gly)
n.2868A>G
c.*2140A>G (n.*2140A>G)
c.*2183A>G (n.*2183A>G)
c.2000A>G (p.Asp667Gly)
c.*1724A>G (n.*1724A>G)
c.2516A>G (p.Asp839Gly)
c.1796A>G (p.Asp599Gly)
c.2447A>G (p.Asp816Gly)
c.1274A>G (p.Asp425Gly)
11g.68157830T>GCA381586531KMT5Bc.2303A>C (p.Asp768Ala)
n.2868A>C
c.*2140A>C (n.*2140A>C)
c.*2183A>C (n.*2183A>C)
c.2000A>C (p.Asp667Ala)
c.*1724A>C (n.*1724A>C)
c.2516A>C (p.Asp839Ala)
c.1796A>C (p.Asp599Ala)
c.2447A>C (p.Asp816Ala)
c.1274A>C (p.Asp425Ala)
11g.68157835_68157837delCA6147999KMT5Bc.2301_2303del (p.Glu767del)
n.2866_2868del
c.*2138_*2140del (n.*2138_*2140del)
c.*2181_*2183del (n.*2181_*2183del)
c.1998_2000del (p.Glu666del)
c.*1722_*1724del (n.*1722_*1724del)
c.2514_2516del (p.Glu838del)
c.1794_1796del (p.Glu598del)
c.2445_2447del (p.Glu815del)
c.1272_1274del (p.Glu424del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68157831C>ACA381586536KMT5Bc.2302G>T (p.Asp768Tyr)
n.2867G>T
c.*2139G>T (n.*2139G>T)
c.*2182G>T (n.*2182G>T)
c.1999G>T (p.Asp667Tyr)
c.*1723G>T (n.*1723G>T)
c.2515G>T (p.Asp839Tyr)
c.1795G>T (p.Asp599Tyr)
c.2446G>T (p.Asp816Tyr)
c.1273G>T (p.Asp425Tyr)
11g.68157831C>GCA381586540KMT5Bc.2302G>C (p.Asp768His)
n.2867G>C
c.*2139G>C (n.*2139G>C)
c.*2182G>C (n.*2182G>C)
c.1999G>C (p.Asp667His)
c.*1723G>C (n.*1723G>C)
c.2515G>C (p.Asp839His)
c.1795G>C (p.Asp599His)
c.2446G>C (p.Asp816His)
c.1273G>C (p.Asp425His)
11g.68157831C>TCA381586543KMT5Bc.2302G>A (p.Asp768Asn)
n.2867G>A
c.*2139G>A (n.*2139G>A)
c.*2182G>A (n.*2182G>A)
c.1999G>A (p.Asp667Asn)
c.*1723G>A (n.*1723G>A)
c.2515G>A (p.Asp839Asn)
c.1795G>A (p.Asp599Asn)
c.2446G>A (p.Asp816Asn)
c.1273G>A (p.Asp425Asn)
ClinVar gnomAD v4
11g.68157832C>ACA381586546KMT5Bc.2301G>T (p.Glu767Asp)
n.2866G>T
c.*2138G>T (n.*2138G>T)
c.*2181G>T (n.*2181G>T)
c.1998G>T (p.Glu666Asp)
c.*1722G>T (n.*1722G>T)
c.2514G>T (p.Glu838Asp)
c.1794G>T (p.Glu598Asp)
c.2445G>T (p.Glu815Asp)
c.1272G>T (p.Glu424Asp)
11g.68157832C=CA1980499978KMT5Bc.2301G= (p.Glu767=)
n.2866G=
c.*2138G= (n.*2138G=)
c.*2181G= (n.*2181G=)
c.1998G= (p.Glu666=)
c.*1722G= (n.*1722G=)
c.2514G= (p.Glu838=)
c.1794G= (p.Glu598=)
c.2445G= (p.Glu815=)
c.1272G= (p.Glu424=)
11g.68157832C>GCA381586548KMT5Bc.2301G>C (p.Glu767Asp)
n.2866G>C
c.*2138G>C (n.*2138G>C)
c.*2181G>C (n.*2181G>C)
c.1998G>C (p.Glu666Asp)
c.*1722G>C (n.*1722G>C)
c.2514G>C (p.Glu838Asp)
c.1794G>C (p.Glu598Asp)
c.2445G>C (p.Glu815Asp)
c.1272G>C (p.Glu424Asp)
11g.68157832C>TCA475514588KMT5Bc.2301G>A (p.Glu767=)
n.2866G>A
c.*2138G>A (n.*2138G>A)
c.*2181G>A (n.*2181G>A)
c.1998G>A (p.Glu666=)
c.*1722G>A (n.*1722G>A)
c.2514G>A (p.Glu838=)
c.1794G>A (p.Glu598=)
c.2445G>A (p.Glu815=)
c.1272G>A (p.Glu424=)
dbSNP
11g.68157833T>ACA381586561KMT5Bc.2300A>T (p.Glu767Val)
n.2865A>T
c.*2137A>T (n.*2137A>T)
c.*2180A>T (n.*2180A>T)
c.1997A>T (p.Glu666Val)
c.*1721A>T (n.*1721A>T)
c.2513A>T (p.Glu838Val)
c.1793A>T (p.Glu598Val)
c.2444A>T (p.Glu815Val)
c.1271A>T (p.Glu424Val)
11g.68157833T>CCA381586557KMT5Bc.2300A>G (p.Glu767Gly)
n.2865A>G
c.*2137A>G (n.*2137A>G)
c.*2180A>G (n.*2180A>G)
c.1997A>G (p.Glu666Gly)
c.*1721A>G (n.*1721A>G)
c.2513A>G (p.Glu838Gly)
c.1793A>G (p.Glu598Gly)
c.2444A>G (p.Glu815Gly)
c.1271A>G (p.Glu424Gly)
11g.68157833T>GCA381586553KMT5Bc.2300A>C (p.Glu767Ala)
n.2865A>C
c.*2137A>C (n.*2137A>C)
c.*2180A>C (n.*2180A>C)
c.1997A>C (p.Glu666Ala)
c.*1721A>C (n.*1721A>C)
c.2513A>C (p.Glu838Ala)
c.1793A>C (p.Glu598Ala)
c.2444A>C (p.Glu815Ala)
c.1271A>C (p.Glu424Ala)
11g.68157834C>ACA381586564KMT5Bc.2299G>T (p.Glu767Ter)
n.2864G>T
c.*2136G>T (n.*2136G>T)
c.*2179G>T (n.*2179G>T)
c.1996G>T (p.Glu666Ter)
c.*1720G>T (n.*1720G>T)
c.2512G>T (p.Glu838Ter)
c.1792G>T (p.Glu598Ter)
c.2443G>T (p.Glu815Ter)
c.1270G>T (p.Glu424Ter)
11g.68157834C=CA1980499986KMT5Bc.2299G= (p.Glu767=)
n.2864G=
c.*2136G= (n.*2136G=)
c.*2179G= (n.*2179G=)
c.1996G= (p.Glu666=)
c.*1720G= (n.*1720G=)
c.2512G= (p.Glu838=)
c.1792G= (p.Glu598=)
c.2443G= (p.Glu815=)
c.1270G= (p.Glu424=)
11g.68157834C>GCA6148000KMT5Bc.2299G>C (p.Glu767Gln)
n.2864G>C
c.*2136G>C (n.*2136G>C)
c.*2179G>C (n.*2179G>C)
c.1996G>C (p.Glu666Gln)
c.*1720G>C (n.*1720G>C)
c.2512G>C (p.Glu838Gln)
c.1792G>C (p.Glu598Gln)
c.2443G>C (p.Glu815Gln)
c.1270G>C (p.Glu424Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68157834C>TCA381586570KMT5Bc.2299G>A (p.Glu767Lys)
n.2864G>A
c.*2136G>A (n.*2136G>A)
c.*2179G>A (n.*2179G>A)
c.1996G>A (p.Glu666Lys)
c.*1720G>A (n.*1720G>A)
c.2512G>A (p.Glu838Lys)
c.1792G>A (p.Glu598Lys)
c.2443G>A (p.Glu815Lys)
c.1270G>A (p.Glu424Lys)
11g.68157835C>ACA381586573KMT5Bc.2298G>T (p.Glu766Asp)
n.2863G>T
c.*2135G>T (n.*2135G>T)
c.*2178G>T (n.*2178G>T)
c.1995G>T (p.Glu665Asp)
c.*1719G>T (n.*1719G>T)
c.2511G>T (p.Glu837Asp)
c.1791G>T (p.Glu597Asp)
c.2442G>T (p.Glu814Asp)
c.1269G>T (p.Glu423Asp)
11g.68157835C=CA1980499997KMT5Bc.2298G= (p.Glu766=)
n.2863G=
c.*2135G= (n.*2135G=)
c.*2178G= (n.*2178G=)
c.1995G= (p.Glu665=)
c.*1719G= (n.*1719G=)
c.2511G= (p.Glu837=)
c.1791G= (p.Glu597=)
c.2442G= (p.Glu814=)
c.1269G= (p.Glu423=)
11g.68157835C>GCA381586577KMT5Bc.2298G>C (p.Glu766Asp)
n.2863G>C
c.*2135G>C (n.*2135G>C)
c.*2178G>C (n.*2178G>C)
c.1995G>C (p.Glu665Asp)
c.*1719G>C (n.*1719G>C)
c.2511G>C (p.Glu837Asp)
c.1791G>C (p.Glu597Asp)
c.2442G>C (p.Glu814Asp)
c.1269G>C (p.Glu423Asp)
11g.68157835C>TCA475514597KMT5Bc.2298G>A (p.Glu766=)
n.2863G>A
c.*2135G>A (n.*2135G>A)
c.*2178G>A (n.*2178G>A)
c.1995G>A (p.Glu665=)
c.*1719G>A (n.*1719G>A)
c.2511G>A (p.Glu837=)
c.1791G>A (p.Glu597=)
c.2442G>A (p.Glu814=)
c.1269G>A (p.Glu423=)
dbSNP
11g.68157835_68157838delinsCTCTCA1980499996KMT5Bc.2295_2298delinsAGAG (p.Glu765=)
n.2860_2863delinsAGAG
c.*2132_*2135delinsAGAG (n.*2132_*2135delinsAGAG)
c.*2175_*2178delinsAGAG (n.*2175_*2178delinsAGAG)
c.1992_1995delinsAGAG (p.Glu664=)
c.*1716_*1719delinsAGAG (n.*1716_*1719delinsAGAG)
c.2508_2511delinsAGAG (p.Glu836=)
c.1788_1791delinsAGAG (p.Glu596=)
c.2439_2442delinsAGAG (p.Glu813=)
c.1266_1269delinsAGAG (p.Glu422=)
11g.68157836T>ACA381586582KMT5Bc.2297A>T (p.Glu766Val)
n.2862A>T
c.*2134A>T (n.*2134A>T)
c.*2177A>T (n.*2177A>T)
c.1994A>T (p.Glu665Val)
c.*1718A>T (n.*1718A>T)
c.2510A>T (p.Glu837Val)
c.1790A>T (p.Glu597Val)
c.2441A>T (p.Glu814Val)
c.1268A>T (p.Glu423Val)
11g.68157836T>CCA381586586KMT5Bc.2297A>G (p.Glu766Gly)
n.2862A>G
c.*2134A>G (n.*2134A>G)
c.*2177A>G (n.*2177A>G)
c.1994A>G (p.Glu665Gly)
c.*1718A>G (n.*1718A>G)
c.2510A>G (p.Glu837Gly)
c.1790A>G (p.Glu597Gly)
c.2441A>G (p.Glu814Gly)
c.1268A>G (p.Glu423Gly)
11g.68157836T>GCA381586590KMT5Bc.2297A>C (p.Glu766Ala)
n.2862A>C
c.*2134A>C (n.*2134A>C)
c.*2177A>C (n.*2177A>C)
c.1994A>C (p.Glu665Ala)
c.*1718A>C (n.*1718A>C)
c.2510A>C (p.Glu837Ala)
c.1790A>C (p.Glu597Ala)
c.2441A>C (p.Glu814Ala)
c.1268A>C (p.Glu423Ala)
11g.68157838_68157840delCA6148001KMT5Bc.2295_2297del (p.Glu766del)
n.2860_2862del
c.*2132_*2134del (n.*2132_*2134del)
c.*2175_*2177del (n.*2175_*2177del)
c.1992_1994del (p.Glu665del)
c.*1716_*1718del (n.*1716_*1718del)
c.2508_2510del (p.Glu837del)
c.1788_1790del (p.Glu597del)
c.2439_2441del (p.Glu814del)
c.1266_1268del (p.Glu423del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68157837C>ACA381586594KMT5Bc.2296G>T (p.Glu766Ter)
n.2861G>T
c.*2133G>T (n.*2133G>T)
c.*2176G>T (n.*2176G>T)
c.1993G>T (p.Glu665Ter)
c.*1717G>T (n.*1717G>T)
c.2509G>T (p.Glu837Ter)
c.1789G>T (p.Glu597Ter)
c.2440G>T (p.Glu814Ter)
c.1267G>T (p.Glu423Ter)
11g.68157837C>GCA381586596KMT5Bc.2296G>C (p.Glu766Gln)
n.2861G>C
c.*2133G>C (n.*2133G>C)
c.*2176G>C (n.*2176G>C)
c.1993G>C (p.Glu665Gln)
c.*1717G>C (n.*1717G>C)
c.2509G>C (p.Glu837Gln)
c.1789G>C (p.Glu597Gln)
c.2440G>C (p.Glu814Gln)
c.1267G>C (p.Glu423Gln)
11g.68157837C>TCA381586599KMT5Bc.2296G>A (p.Glu766Lys)
n.2861G>A
c.*2133G>A (n.*2133G>A)
c.*2176G>A (n.*2176G>A)
c.1993G>A (p.Glu665Lys)
c.*1717G>A (n.*1717G>A)
c.2509G>A (p.Glu837Lys)
c.1789G>A (p.Glu597Lys)
c.2440G>A (p.Glu814Lys)
c.1267G>A (p.Glu423Lys)
gnomAD v4
11g.68157838T>ACA381586604KMT5Bc.2295A>T (p.Glu765Asp)
n.2860A>T
c.*2132A>T (n.*2132A>T)
c.*2175A>T (n.*2175A>T)
c.1992A>T (p.Glu664Asp)
c.*1716A>T (n.*1716A>T)
c.2508A>T (p.Glu836Asp)
c.1788A>T (p.Glu596Asp)
c.2439A>T (p.Glu813Asp)
c.1266A>T (p.Glu422Asp)
11g.68157838T>CCA6148002KMT5Bc.2295A>G (p.Glu765=)
n.2860A>G
c.*2132A>G (n.*2132A>G)
c.*2175A>G (n.*2175A>G)
c.1992A>G (p.Glu664=)
c.*1716A>G (n.*1716A>G)
c.2508A>G (p.Glu836=)
c.1788A>G (p.Glu596=)
c.2439A>G (p.Glu813=)
c.1266A>G (p.Glu422=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.68157838T>GCA381586602KMT5Bc.2295A>C (p.Glu765Asp)
n.2860A>C
c.*2132A>C (n.*2132A>C)
c.*2175A>C (n.*2175A>C)
c.1992A>C (p.Glu664Asp)
c.*1716A>C (n.*1716A>C)
c.2508A>C (p.Glu836Asp)
c.1788A>C (p.Glu596Asp)
c.2439A>C (p.Glu813Asp)
c.1266A>C (p.Glu422Asp)
11g.68157838T=CA1980500006KMT5Bc.2295A= (p.Glu765=)
n.2860A=
c.*2132A= (n.*2132A=)
c.*2175A= (n.*2175A=)
c.1992A= (p.Glu664=)
c.*1716A= (n.*1716A=)
c.2508A= (p.Glu836=)
c.1788A= (p.Glu596=)
c.2439A= (p.Glu813=)
c.1266A= (p.Glu422=)
11g.68157839T>ACA381586614KMT5Bc.2294A>T (p.Glu765Val)
n.2859A>T
c.*2131A>T (n.*2131A>T)
c.*2174A>T (n.*2174A>T)
c.1991A>T (p.Glu664Val)
c.*1715A>T (n.*1715A>T)
c.2507A>T (p.Glu836Val)
c.1787A>T (p.Glu596Val)
c.2438A>T (p.Glu813Val)
c.1265A>T (p.Glu422Val)
11g.68157839T>CCA381586609KMT5Bc.2294A>G (p.Glu765Gly)
n.2859A>G
c.*2131A>G (n.*2131A>G)
c.*2174A>G (n.*2174A>G)
c.1991A>G (p.Glu664Gly)
c.*1715A>G (n.*1715A>G)
c.2507A>G (p.Glu836Gly)
c.1787A>G (p.Glu596Gly)
c.2438A>G (p.Glu813Gly)
c.1265A>G (p.Glu422Gly)
11g.68157839T>GCA381586616KMT5Bc.2294A>C (p.Glu765Ala)
n.2859A>C
c.*2131A>C (n.*2131A>C)
c.*2174A>C (n.*2174A>C)
c.1991A>C (p.Glu664Ala)
c.*1715A>C (n.*1715A>C)
c.2507A>C (p.Glu836Ala)
c.1787A>C (p.Glu596Ala)
c.2438A>C (p.Glu813Ala)
c.1265A>C (p.Glu422Ala)
11g.68157841_68157843delCA2574900136KMT5Bc.2292_2294del (p.Asp764del)
n.2857_2859del
c.*2129_*2131del (n.*2129_*2131del)
c.*2172_*2174del (n.*2172_*2174del)
c.1989_1991del (p.Asp663del)
c.*1713_*1715del (n.*1713_*1715del)
c.2505_2507del (p.Asp835del)
c.1785_1787del (p.Asp595del)
c.2436_2438del (p.Asp812del)
c.1263_1265del (p.Asp421del)
11g.68157840C>ACA381586618KMT5Bc.2293G>T (p.Glu765Ter)
n.2858G>T
c.*2130G>T (n.*2130G>T)
c.*2173G>T (n.*2173G>T)
c.1990G>T (p.Glu664Ter)
c.*1714G>T (n.*1714G>T)
c.2506G>T (p.Glu836Ter)
c.1786G>T (p.Glu596Ter)
c.2437G>T (p.Glu813Ter)
c.1264G>T (p.Glu422Ter)
11g.68157840C=CA1980500009KMT5Bc.2293G= (p.Glu765=)
n.2858G=
c.*2130G= (n.*2130G=)
c.*2173G= (n.*2173G=)
c.1990G= (p.Glu664=)
c.*1714G= (n.*1714G=)
c.2506G= (p.Glu836=)
c.1786G= (p.Glu596=)
c.2437G= (p.Glu813=)
c.1264G= (p.Glu422=)
11g.68157840C>GCA381586620KMT5Bc.2293G>C (p.Glu765Gln)
n.2858G>C
c.*2130G>C (n.*2130G>C)
c.*2173G>C (n.*2173G>C)
c.1990G>C (p.Glu664Gln)
c.*1714G>C (n.*1714G>C)
c.2506G>C (p.Glu836Gln)
c.1786G>C (p.Glu596Gln)
c.2437G>C (p.Glu813Gln)
c.1264G>C (p.Glu422Gln)
11g.68157840C>TCA381586622KMT5Bc.2293G>A (p.Glu765Lys)
n.2858G>A
c.*2130G>A (n.*2130G>A)
c.*2173G>A (n.*2173G>A)
c.1990G>A (p.Glu664Lys)
c.*1714G>A (n.*1714G>A)
c.2506G>A (p.Glu836Lys)
c.1786G>A (p.Glu596Lys)
c.2437G>A (p.Glu813Lys)
c.1264G>A (p.Glu422Lys)
dbSNP
11g.68157840_68157841insTGAGGGCGCA2792531613KMT5Bc.2292_2293insCGCCCTCA (p.Glu765ArgfsTer26)
n.2857_2858insCGCCCTCA
c.*2129_*2130insCGCCCTCA (n.*2129_*2130insCGCCCTCA)
c.*2172_*2173insCGCCCTCA (n.*2172_*2173insCGCCCTCA)
c.1989_1990insCGCCCTCA (p.Glu664ArgfsTer26)
c.*1713_*1714insCGCCCTCA (n.*1713_*1714insCGCCCTCA)
c.2505_2506insCGCCCTCA (p.Glu836ArgfsTer26)
c.1785_1786insCGCCCTCA (p.Glu596ArgfsTer26)
c.2436_2437insCGCCCTCA (p.Glu813ArgfsTer26)
c.1263_1264insCGCCCTCA (p.Glu422ArgfsTer26)
11g.68157841A=CA1980500010KMT5Bc.2292T= (p.Asp764=)
n.2857T=
c.*2129T= (n.*2129T=)
c.*2172T= (n.*2172T=)
c.1989T= (p.Asp663=)
c.*1713T= (n.*1713T=)
c.2505T= (p.Asp835=)
c.1785T= (p.Asp595=)
c.2436T= (p.Asp812=)
c.1263T= (p.Asp421=)
11g.68157841A>CCA381586624KMT5Bc.2292T>G (p.Asp764Glu)
n.2857T>G
c.*2129T>G (n.*2129T>G)
c.*2172T>G (n.*2172T>G)
c.1989T>G (p.Asp663Glu)
c.*1713T>G (n.*1713T>G)
c.2505T>G (p.Asp835Glu)
c.1785T>G (p.Asp595Glu)
c.2436T>G (p.Asp812Glu)
c.1263T>G (p.Asp421Glu)
dbSNP
11g.68157841A>GCA475514610KMT5Bc.2292T>C (p.Asp764=)
n.2857T>C
c.*2129T>C (n.*2129T>C)
c.*2172T>C (n.*2172T>C)
c.1989T>C (p.Asp663=)
c.*1713T>C (n.*1713T>C)
c.2505T>C (p.Asp835=)
c.1785T>C (p.Asp595=)
c.2436T>C (p.Asp812=)
c.1263T>C (p.Asp421=)
11g.68157841A>TCA381586626KMT5Bc.2292T>A (p.Asp764Glu)
n.2857T>A
c.*2129T>A (n.*2129T>A)
c.*2172T>A (n.*2172T>A)
c.1989T>A (p.Asp663Glu)
c.*1713T>A (n.*1713T>A)
c.2505T>A (p.Asp835Glu)
c.1785T>A (p.Asp595Glu)
c.2436T>A (p.Asp812Glu)
c.1263T>A (p.Asp421Glu)
11g.68157842T>ACA381586630KMT5Bc.2291A>T (p.Asp764Val)
n.2856A>T
c.*2128A>T (n.*2128A>T)
c.*2171A>T (n.*2171A>T)
c.1988A>T (p.Asp663Val)
c.*1712A>T (n.*1712A>T)
c.2504A>T (p.Asp835Val)
c.1784A>T (p.Asp595Val)
c.2435A>T (p.Asp812Val)
c.1262A>T (p.Asp421Val)
11g.68157842T>CCA381586633KMT5Bc.2291A>G (p.Asp764Gly)
n.2856A>G
c.*2128A>G (n.*2128A>G)
c.*2171A>G (n.*2171A>G)
c.1988A>G (p.Asp663Gly)
c.*1712A>G (n.*1712A>G)
c.2504A>G (p.Asp835Gly)
c.1784A>G (p.Asp595Gly)
c.2435A>G (p.Asp812Gly)
c.1262A>G (p.Asp421Gly)
11g.68157842T>GCA381586636KMT5Bc.2291A>C (p.Asp764Ala)
n.2856A>C
c.*2128A>C (n.*2128A>C)
c.*2171A>C (n.*2171A>C)
c.1988A>C (p.Asp663Ala)
c.*1712A>C (n.*1712A>C)
c.2504A>C (p.Asp835Ala)
c.1784A>C (p.Asp595Ala)
c.2435A>C (p.Asp812Ala)
c.1262A>C (p.Asp421Ala)
11g.68157843C>ACA381586639KMT5Bc.2290G>T (p.Asp764Tyr)
n.2855G>T
c.*2127G>T (n.*2127G>T)
c.*2170G>T (n.*2170G>T)
c.1987G>T (p.Asp663Tyr)
c.*1711G>T (n.*1711G>T)
c.2503G>T (p.Asp835Tyr)
c.1783G>T (p.Asp595Tyr)
c.2434G>T (p.Asp812Tyr)
c.1261G>T (p.Asp421Tyr)
11g.68157843C=CA1980500012KMT5Bc.2290G= (p.Asp764=)
n.2855G=
c.*2127G= (n.*2127G=)
c.*2170G= (n.*2170G=)
c.1987G= (p.Asp663=)
c.*1711G= (n.*1711G=)
c.2503G= (p.Asp835=)
c.1783G= (p.Asp595=)
c.2434G= (p.Asp812=)
c.1261G= (p.Asp421=)
11g.68157843C>GCA381586643KMT5Bc.2290G>C (p.Asp764His)
n.2855G>C
c.*2127G>C (n.*2127G>C)
c.*2170G>C (n.*2170G>C)
c.1987G>C (p.Asp663His)
c.*1711G>C (n.*1711G>C)
c.2503G>C (p.Asp835His)
c.1783G>C (p.Asp595His)
c.2434G>C (p.Asp812His)
c.1261G>C (p.Asp421His)
11g.68157843C>TCA6148003KMT5Bc.2290G>A (p.Asp764Asn)
n.2855G>A
c.*2127G>A (n.*2127G>A)
c.*2170G>A (n.*2170G>A)
c.1987G>A (p.Asp663Asn)
c.*1711G>A (n.*1711G>A)
c.2503G>A (p.Asp835Asn)
c.1783G>A (p.Asp595Asn)
c.2434G>A (p.Asp812Asn)
c.1261G>A (p.Asp421Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68157843_68157850delCA2792531614KMT5Bc.2283_2290del (p.Glu762Ter)
n.2848_2855del
c.*2120_*2127del (n.*2120_*2127del)
c.*2163_*2170del (n.*2163_*2170del)
c.1980_1987del (p.Glu661Ter)
c.*1704_*1711del (n.*1704_*1711del)
c.2496_2503del (p.Glu833Ter)
c.1776_1783del (p.Glu593Ter)
c.2427_2434del (p.Glu810Ter)
c.1254_1261del (p.Glu419Ter)
11g.68157844G>ACA6148004KMT5Bc.2289C>T (p.Gly763=)
n.2854C>T
c.*2126C>T (n.*2126C>T)
c.*2169C>T (n.*2169C>T)
c.1986C>T (p.Gly662=)
c.*1710C>T (n.*1710C>T)
c.2502C>T (p.Gly834=)
c.1782C>T (p.Gly594=)
c.2433C>T (p.Gly811=)
c.1260C>T (p.Gly420=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68157844G>CCA475514615KMT5Bc.2289C>G (p.Gly763=)
n.2854C>G
c.*2126C>G (n.*2126C>G)
c.*2169C>G (n.*2169C>G)
c.1986C>G (p.Gly662=)
c.*1710C>G (n.*1710C>G)
c.2502C>G (p.Gly834=)
c.1782C>G (p.Gly594=)
c.2433C>G (p.Gly811=)
c.1260C>G (p.Gly420=)
11g.68157844G=CA1980500016KMT5Bc.2289C= (p.Gly763=)
n.2854C=
c.*2126C= (n.*2126C=)
c.*2169C= (n.*2169C=)
c.1986C= (p.Gly662=)
c.*1710C= (n.*1710C=)
c.2502C= (p.Gly834=)
c.1782C= (p.Gly594=)
c.2433C= (p.Gly811=)
c.1260C= (p.Gly420=)
11g.68157844G>TCA475514616KMT5Bc.2289C>A (p.Gly763=)
n.2854C>A
c.*2126C>A (n.*2126C>A)
c.*2169C>A (n.*2169C>A)
c.1986C>A (p.Gly662=)
c.*1710C>A (n.*1710C>A)
c.2502C>A (p.Gly834=)
c.1782C>A (p.Gly594=)
c.2433C>A (p.Gly811=)
c.1260C>A (p.Gly420=)
11g.68157845C>ACA381586657KMT5Bc.2288G>T (p.Gly763Val)
n.2853G>T
c.*2125G>T (n.*2125G>T)
c.*2168G>T (n.*2168G>T)
c.1985G>T (p.Gly662Val)
c.*1709G>T (n.*1709G>T)
c.2501G>T (p.Gly834Val)
c.1781G>T (p.Gly594Val)
c.2432G>T (p.Gly811Val)
c.1259G>T (p.Gly420Val)
11g.68157845C>GCA381586652KMT5Bc.2288G>C (p.Gly763Ala)
n.2853G>C
c.*2125G>C (n.*2125G>C)
c.*2168G>C (n.*2168G>C)
c.1985G>C (p.Gly662Ala)
c.*1709G>C (n.*1709G>C)
c.2501G>C (p.Gly834Ala)
c.1781G>C (p.Gly594Ala)
c.2432G>C (p.Gly811Ala)
c.1259G>C (p.Gly420Ala)
11g.68157845C>TCA381586655KMT5Bc.2288G>A (p.Gly763Asp)
n.2853G>A
c.*2125G>A (n.*2125G>A)
c.*2168G>A (n.*2168G>A)
c.1985G>A (p.Gly662Asp)
c.*1709G>A (n.*1709G>A)
c.2501G>A (p.Gly834Asp)
c.1781G>A (p.Gly594Asp)
c.2432G>A (p.Gly811Asp)
c.1259G>A (p.Gly420Asp)
11g.68157846C>ACA381586663KMT5Bc.2287G>T (p.Gly763Cys)
n.2852G>T
c.*2124G>T (n.*2124G>T)
c.*2167G>T (n.*2167G>T)
c.1984G>T (p.Gly662Cys)
c.*1708G>T (n.*1708G>T)
c.2500G>T (p.Gly834Cys)
c.1780G>T (p.Gly594Cys)
c.2431G>T (p.Gly811Cys)
c.1258G>T (p.Gly420Cys)
11g.68157846C=CA1980500019KMT5Bc.2287G= (p.Gly763=)
n.2852G=
c.*2124G= (n.*2124G=)
c.*2167G= (n.*2167G=)
c.1984G= (p.Gly662=)
c.*1708G= (n.*1708G=)
c.2500G= (p.Gly834=)
c.1780G= (p.Gly594=)
c.2431G= (p.Gly811=)
c.1258G= (p.Gly420=)
11g.68157846C>GCA381586664KMT5Bc.2287G>C (p.Gly763Arg)
n.2852G>C
c.*2124G>C (n.*2124G>C)
c.*2167G>C (n.*2167G>C)
c.1984G>C (p.Gly662Arg)
c.*1708G>C (n.*1708G>C)
c.2500G>C (p.Gly834Arg)
c.1780G>C (p.Gly594Arg)
c.2431G>C (p.Gly811Arg)
c.1258G>C (p.Gly420Arg)
11g.68157846C>TCA381586666KMT5Bc.2287G>A (p.Gly763Ser)
n.2852G>A
c.*2124G>A (n.*2124G>A)
c.*2167G>A (n.*2167G>A)
c.1984G>A (p.Gly662Ser)
c.*1708G>A (n.*1708G>A)
c.2500G>A (p.Gly834Ser)
c.1780G>A (p.Gly594Ser)
c.2431G>A (p.Gly811Ser)
c.1258G>A (p.Gly420Ser)
dbSNP gnomAD v2 gnomAD v4
11g.68157847C>ACA381586669KMT5Bc.2286G>T (p.Glu762Asp)
n.2851G>T
c.*2123G>T (n.*2123G>T)
c.*2166G>T (n.*2166G>T)
c.1983G>T (p.Glu661Asp)
c.*1707G>T (n.*1707G>T)
c.2499G>T (p.Glu833Asp)
c.1779G>T (p.Glu593Asp)
c.2430G>T (p.Glu810Asp)
c.1257G>T (p.Glu419Asp)
11g.68157847C>GCA381586672KMT5Bc.2286G>C (p.Glu762Asp)
n.2851G>C
c.*2123G>C (n.*2123G>C)
c.*2166G>C (n.*2166G>C)
c.1983G>C (p.Glu661Asp)
c.*1707G>C (n.*1707G>C)
c.2499G>C (p.Glu833Asp)
c.1779G>C (p.Glu593Asp)
c.2430G>C (p.Glu810Asp)
c.1257G>C (p.Glu419Asp)
11g.68157847C>TCA475514620KMT5Bc.2286G>A (p.Glu762=)
n.2851G>A
c.*2123G>A (n.*2123G>A)
c.*2166G>A (n.*2166G>A)
c.1983G>A (p.Glu661=)
c.*1707G>A (n.*1707G>A)
c.2499G>A (p.Glu833=)
c.1779G>A (p.Glu593=)
c.2430G>A (p.Glu810=)
c.1257G>A (p.Glu419=)
11g.68157848delCA2695214891KMT5Bc.2285del (p.Glu762GlyfsTer26)
n.2850del
c.*2122del (n.*2122del)
c.*2165del (n.*2165del)
c.1982del (p.Glu661GlyfsTer26)
c.*1706del (n.*1706del)
c.2498del (p.Glu833GlyfsTer26)
c.1778del (p.Glu593GlyfsTer26)
c.2429del (p.Glu810GlyfsTer26)
c.1256del (p.Glu419GlyfsTer26)
11g.68157848T>ACA381586676KMT5Bc.2285A>T (p.Glu762Val)
n.2850A>T
c.*2122A>T (n.*2122A>T)
c.*2165A>T (n.*2165A>T)
c.1982A>T (p.Glu661Val)
c.*1706A>T (n.*1706A>T)
c.2498A>T (p.Glu833Val)
c.1778A>T (p.Glu593Val)
c.2429A>T (p.Glu810Val)
c.1256A>T (p.Glu419Val)
11g.68157848T>CCA381586679KMT5Bc.2285A>G (p.Glu762Gly)
n.2850A>G
c.*2122A>G (n.*2122A>G)
c.*2165A>G (n.*2165A>G)
c.1982A>G (p.Glu661Gly)
c.*1706A>G (n.*1706A>G)
c.2498A>G (p.Glu833Gly)
c.1778A>G (p.Glu593Gly)
c.2429A>G (p.Glu810Gly)
c.1256A>G (p.Glu419Gly)
11g.68157848T>GCA381586682KMT5Bc.2285A>C (p.Glu762Ala)
n.2850A>C
c.*2122A>C (n.*2122A>C)
c.*2165A>C (n.*2165A>C)
c.1982A>C (p.Glu661Ala)
c.*1706A>C (n.*1706A>C)
c.2498A>C (p.Glu833Ala)
c.1778A>C (p.Glu593Ala)
c.2429A>C (p.Glu810Ala)
c.1256A>C (p.Glu419Ala)
11g.68157849C>ACA10581482KMT5Bc.2284G>T (p.Glu762Ter)
n.2849G>T
c.*2121G>T (n.*2121G>T)
c.*2164G>T (n.*2164G>T)
c.1981G>T (p.Glu661Ter)
c.*1705G>T (n.*1705G>T)
c.2497G>T (p.Glu833Ter)
c.1777G>T (p.Glu593Ter)
c.2428G>T (p.Glu810Ter)
c.1255G>T (p.Glu419Ter)
ClinVar dbSNP
11g.68157849C=CA1980500030KMT5Bc.2284G= (p.Glu762=)
n.2849G=
c.*2121G= (n.*2121G=)
c.*2164G= (n.*2164G=)
c.1981G= (p.Glu661=)
c.*1705G= (n.*1705G=)
c.2497G= (p.Glu833=)
c.1777G= (p.Glu593=)
c.2428G= (p.Glu810=)
c.1255G= (p.Glu419=)
11g.68157849C>GCA381586690KMT5Bc.2284G>C (p.Glu762Gln)
n.2849G>C
c.*2121G>C (n.*2121G>C)
c.*2164G>C (n.*2164G>C)
c.1981G>C (p.Glu661Gln)
c.*1705G>C (n.*1705G>C)
c.2497G>C (p.Glu833Gln)
c.1777G>C (p.Glu593Gln)
c.2428G>C (p.Glu810Gln)
c.1255G>C (p.Glu419Gln)
11g.68157849C>TCA381586694KMT5Bc.2284G>A (p.Glu762Lys)
n.2849G>A
c.*2121G>A (n.*2121G>A)
c.*2164G>A (n.*2164G>A)
c.1981G>A (p.Glu661Lys)
c.*1705G>A (n.*1705G>A)
c.2497G>A (p.Glu833Lys)
c.1777G>A (p.Glu593Lys)
c.2428G>A (p.Glu810Lys)
c.1255G>A (p.Glu419Lys)
11g.68157849_68157851delCA2614700398KMT5Bc.2282_2284del (p.Ser761Ter)
n.2847_2849del
c.*2119_*2121del (n.*2119_*2121del)
c.*2162_*2164del (n.*2162_*2164del)
c.1979_1981del (p.Ser660Ter)
c.*1703_*1705del (n.*1703_*1705del)
c.2495_2497del (p.Ser832Ter)
c.1775_1777del (p.Ser592Ter)
c.2426_2428del (p.Ser809Ter)
c.1253_1255del (p.Ser418Ter)
gnomAD v4
11g.68157849_68157852delinsCAGACA1980500025KMT5Bc.2281_2284delinsTCTG (p.Ser761=)
n.2846_2849delinsTCTG
c.*2118_*2121delinsTCTG (n.*2118_*2121delinsTCTG)
c.*2161_*2164delinsTCTG (n.*2161_*2164delinsTCTG)
c.1978_1981delinsTCTG (p.Ser660=)
c.*1702_*1705delinsTCTG (n.*1702_*1705delinsTCTG)
c.2494_2497delinsTCTG (p.Ser832=)
c.1774_1777delinsTCTG (p.Ser592=)
c.2425_2428delinsTCTG (p.Ser809=)
c.1252_1255delinsTCTG (p.Ser418=)
11g.68157850A>CCA475514624KMT5Bc.2283T>G (p.Ser761=)
n.2848T>G
c.*2120T>G (n.*2120T>G)
c.*2163T>G (n.*2163T>G)
c.1980T>G (p.Ser660=)
c.*1704T>G (n.*1704T>G)
c.2496T>G (p.Ser832=)
c.1776T>G (p.Ser592=)
c.2427T>G (p.Ser809=)
c.1254T>G (p.Ser418=)
11g.68157850A>GCA475514625KMT5Bc.2283T>C (p.Ser761=)
n.2848T>C
c.*2120T>C (n.*2120T>C)
c.*2163T>C (n.*2163T>C)
c.1980T>C (p.Ser660=)
c.*1704T>C (n.*1704T>C)
c.2496T>C (p.Ser832=)
c.1776T>C (p.Ser592=)
c.2427T>C (p.Ser809=)
c.1254T>C (p.Ser418=)
11g.68157850A>TCA475514626KMT5Bc.2283T>A (p.Ser761=)
n.2848T>A
c.*2120T>A (n.*2120T>A)
c.*2163T>A (n.*2163T>A)
c.1980T>A (p.Ser660=)
c.*1704T>A (n.*1704T>A)
c.2496T>A (p.Ser832=)
c.1776T>A (p.Ser592=)
c.2427T>A (p.Ser809=)
c.1254T>A (p.Ser418=)
11g.68157853_68157855delCA600238789KMT5Bc.2281_2283del (p.Ser761del)
n.2846_2848del
c.*2118_*2120del (n.*2118_*2120del)
c.*2161_*2163del (n.*2161_*2163del)
c.1978_1980del (p.Ser660del)
c.*1702_*1704del (n.*1702_*1704del)
c.2494_2496del (p.Ser832del)
c.1774_1776del (p.Ser592del)
c.2425_2427del (p.Ser809del)
c.1252_1254del (p.Ser418del)
dbSNP gnomAD v2 gnomAD v4
11g.68157851G>ACA381586699KMT5Bc.2282C>T (p.Ser761Phe)
n.2847C>T
c.*2119C>T (n.*2119C>T)
c.*2162C>T (n.*2162C>T)
c.1979C>T (p.Ser660Phe)
c.*1703C>T (n.*1703C>T)
c.2495C>T (p.Ser832Phe)
c.1775C>T (p.Ser592Phe)
c.2426C>T (p.Ser809Phe)
c.1253C>T (p.Ser418Phe)
dbSNP
11g.68157851G>CCA6148005KMT5Bc.2282C>G (p.Ser761Cys)
n.2847C>G
c.*2119C>G (n.*2119C>G)
c.*2162C>G (n.*2162C>G)
c.1979C>G (p.Ser660Cys)
c.*1703C>G (n.*1703C>G)
c.2495C>G (p.Ser832Cys)
c.1775C>G (p.Ser592Cys)
c.2426C>G (p.Ser809Cys)
c.1253C>G (p.Ser418Cys)
dbSNP ExAC gnomAD v2
11g.68157851G=CA1980500039KMT5Bc.2282C= (p.Ser761=)
n.2847C=
c.*2119C= (n.*2119C=)
c.*2162C= (n.*2162C=)
c.1979C= (p.Ser660=)
c.*1703C= (n.*1703C=)
c.2495C= (p.Ser832=)
c.1775C= (p.Ser592=)
c.2426C= (p.Ser809=)
c.1253C= (p.Ser418=)
11g.68157851G>TCA381586696KMT5Bc.2282C>A (p.Ser761Tyr)
n.2847C>A
c.*2119C>A (n.*2119C>A)
c.*2162C>A (n.*2162C>A)
c.1979C>A (p.Ser660Tyr)
c.*1703C>A (n.*1703C>A)
c.2495C>A (p.Ser832Tyr)
c.1775C>A (p.Ser592Tyr)
c.2426C>A (p.Ser809Tyr)
c.1253C>A (p.Ser418Tyr)
11g.68157852A=CA1980500044KMT5Bc.2281T= (p.Ser761=)
n.2846T=
c.*2118T= (n.*2118T=)
c.*2161T= (n.*2161T=)
c.1978T= (p.Ser660=)
c.*1702T= (n.*1702T=)
c.2494T= (p.Ser832=)
c.1774T= (p.Ser592=)
c.2425T= (p.Ser809=)
c.1252T= (p.Ser418=)
11g.68157852A>CCA381586703KMT5Bc.2281T>G (p.Ser761Ala)
n.2846T>G
c.*2118T>G (n.*2118T>G)
c.*2161T>G (n.*2161T>G)
c.1978T>G (p.Ser660Ala)
c.*1702T>G (n.*1702T>G)
c.2494T>G (p.Ser832Ala)
c.1774T>G (p.Ser592Ala)
c.2425T>G (p.Ser809Ala)
c.1252T>G (p.Ser418Ala)
11g.68157852A>GCA224247861KMT5Bc.2281T>C (p.Ser761Pro)
n.2846T>C
c.*2118T>C (n.*2118T>C)
c.*2161T>C (n.*2161T>C)
c.1978T>C (p.Ser660Pro)
c.*1702T>C (n.*1702T>C)
c.2494T>C (p.Ser832Pro)
c.1774T>C (p.Ser592Pro)
c.2425T>C (p.Ser809Pro)
c.1252T>C (p.Ser418Pro)
dbSNP
11g.68157852A>TCA381586708KMT5Bc.2281T>A (p.Ser761Thr)
n.2846T>A
c.*2118T>A (n.*2118T>A)
c.*2161T>A (n.*2161T>A)
c.1978T>A (p.Ser660Thr)
c.*1702T>A (n.*1702T>A)
c.2494T>A (p.Ser832Thr)
c.1774T>A (p.Ser592Thr)
c.2425T>A (p.Ser809Thr)
c.1252T>A (p.Ser418Thr)
11g.68157853A>CCA475514631KMT5Bc.2280T>G (p.Ser760=)
n.2845T>G
c.*2117T>G (n.*2117T>G)
c.*2160T>G (n.*2160T>G)
c.1977T>G (p.Ser659=)
c.*1701T>G (n.*1701T>G)
c.2493T>G (p.Ser831=)
c.1773T>G (p.Ser591=)
c.2424T>G (p.Ser808=)
c.1251T>G (p.Ser417=)
11g.68157853A>GCA475514632KMT5Bc.2280T>C (p.Ser760=)
n.2845T>C
c.*2117T>C (n.*2117T>C)
c.*2160T>C (n.*2160T>C)
c.1977T>C (p.Ser659=)
c.*1701T>C (n.*1701T>C)
c.2493T>C (p.Ser831=)
c.1773T>C (p.Ser591=)
c.2424T>C (p.Ser808=)
c.1251T>C (p.Ser417=)
11g.68157853A>TCA475514633KMT5Bc.2280T>A (p.Ser760=)
n.2845T>A
c.*2117T>A (n.*2117T>A)
c.*2160T>A (n.*2160T>A)
c.1977T>A (p.Ser659=)
c.*1701T>A (n.*1701T>A)
c.2493T>A (p.Ser831=)
c.1773T>A (p.Ser591=)
c.2424T>A (p.Ser808=)
c.1251T>A (p.Ser417=)
11g.68157853_68157856delinsAGAGCA1980500050KMT5Bc.2277_2280delinsCTCT (p.Ser759=)
n.2842_2845delinsCTCT
c.*2114_*2117delinsCTCT (n.*2114_*2117delinsCTCT)
c.*2157_*2160delinsCTCT (n.*2157_*2160delinsCTCT)
c.1974_1977delinsCTCT (p.Ser658=)
c.*1698_*1701delinsCTCT (n.*1698_*1701delinsCTCT)
c.2490_2493delinsCTCT (p.Ser830=)
c.1770_1773delinsCTCT (p.Ser590=)
c.2421_2424delinsCTCT (p.Ser807=)
c.1248_1251delinsCTCT (p.Ser416=)

Number of alleles fetched