Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.68157753C>A | CA381585835 | KMT5B | c.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 |
11 | g.68157753C>G | CA381585836 | KMT5B | c.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) | |
11 | g.68157753C>T | CA381585838 | KMT5B | c.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) | |
11 | g.68157754T>A | CA381585844 | KMT5B | c.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) | |
11 | g.68157754T>C | CA475514442 | KMT5B | c.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=) | |
11 | g.68157754T>G | CA381585841 | KMT5B | c.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) | |
11 | g.68157755T>A | CA381585847 | KMT5B | c.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) | |
11 | g.68157755T>C | CA381585850 | KMT5B | c.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) | |
11 | g.68157755T>G | CA381585853 | KMT5B | c.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) | |
11 | g.68157756T>A | CA381585862 | KMT5B | c.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) | |
11 | g.68157756T>C | CA381585865 | KMT5B | c.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) | |
11 | g.68157756T>G | CA381585866 | KMT5B | c.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) | |
11 | g.68157757T>A | CA475514445 | KMT5B | c.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=) | |
11 | g.68157757T>C | CA475514446 | KMT5B | c.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=) | |
11 | g.68157757T>G | CA475514447 | KMT5B | c.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=) | |
11 | g.68157758C>A | CA381585867 | KMT5B | c.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) | |
11 | g.68157758C>G | CA381585869 | KMT5B | c.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) | |
11 | g.68157758C>T | CA381585868 | KMT5B | c.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) | |
11 | g.68157759C>A | CA381585873 | KMT5B | c.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) | |
11 | g.68157759C>G | CA381585877 | KMT5B | c.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) | |
11 | g.68157759C>T | CA381585889 | KMT5B | c.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) | |
11 | g.68157760A>C | CA475514450 | KMT5B | c.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=) | |
11 | g.68157760A>G | CA475514451 | KMT5B | c.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=) | |
11 | g.68157760A>T | CA475514452 | KMT5B | c.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=) | |
11 | g.68157761A= | CA1980499836 | KMT5B | c.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=) | |
11 | g.68157761A>C | CA381585894 | KMT5B | c.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) | |
11 | g.68157761A>G | CA224247747 | KMT5B | c.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 |
11 | g.68157761A>T | CA381585896 | KMT5B | c.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) | |
11 | g.68157762C>A | CA381585898 | KMT5B | c.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) | |
11 | g.68157762C>G | CA381585902 | KMT5B | c.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) | |
11 | g.68157762C>T | CA381585909 | KMT5B | c.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 |
11 | g.68157763T>A | CA475514455 | KMT5B | c.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=) | |
11 | g.68157763T>C | CA381585911 | KMT5B | c.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) | |
11 | g.68157763T>G | CA475514456 | KMT5B | c.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=) | |
11 | g.68157764A>C | CA381585921 | KMT5B | c.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) | |
11 | g.68157764A>G | CA381585919 | KMT5B | c.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) | |
11 | g.68157764A>T | CA381585916 | KMT5B | c.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) | |
11 | g.68157765T>A | CA381585924 | KMT5B | c.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) | |
11 | g.68157765T>C | CA381585926 | KMT5B | c.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) | |
11 | g.68157765T>G | CA381585925 | KMT5B | c.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) | |
11 | g.68157766T>A | CA381585927 | KMT5B | c.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) | |
11 | g.68157766T>C | CA475514459 | KMT5B | c.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 |
11 | g.68157766T>G | CA381585928 | KMT5B | c.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) | |
11 | g.68157767A>C | CA381585932 | KMT5B | c.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) | |
11 | g.68157767A>G | CA381585937 | KMT5B | c.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) | |
11 | g.68157767A>T | CA381585939 | KMT5B | c.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) | |
11 | g.68157768A>C | CA381585945 | KMT5B | c.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) | |
11 | g.68157768A>G | CA475514466 | KMT5B | c.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=) | |
11 | g.68157768A>T | CA381585952 | KMT5B | c.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) | |
11 | g.68157769C>A | CA381585965 | KMT5B | c.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) | |
11 | g.68157769C>G | CA381585970 | KMT5B | c.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) | |
11 | g.68157769C>T | CA475514467 | KMT5B | c.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=) | |
11 | g.68157770C>A | CA381585975 | KMT5B | c.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) | |
11 | g.68157770C= | CA1980499839 | KMT5B | c.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=) | |
11 | g.68157770C>G | CA381585977 | KMT5B | c.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) | |
11 | g.68157770C>T | CA224247757 | KMT5B | c.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 |
11 | g.68157771T>A | CA381585982 | KMT5B | c.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) | |
11 | g.68157771T>C | CA381585985 | KMT5B | c.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) | |
11 | g.68157771T>G | CA475514468 | KMT5B | c.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=) | |
11 | g.68157772C>A | CA381585991 | KMT5B | c.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) | |
11 | g.68157772C>G | CA381585995 | KMT5B | c.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 |
11 | g.68157772C>T | CA475514470 | KMT5B | c.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 |
11 | g.68157773A>C | CA381586001 | KMT5B | c.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) | |
11 | g.68157773A>G | CA381586003 | KMT5B | c.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) | |
11 | g.68157773A>T | CA381586006 | KMT5B | c.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) | |
11 | g.68157774A>C | CA381586013 | KMT5B | c.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 |
11 | g.68157774A>G | CA475514475 | KMT5B | c.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=) | |
11 | g.68157774A>T | CA381586015 | KMT5B | c.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) | |
11 | g.68157775G>A | CA475514476 | KMT5B | c.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=) | |
11 | g.68157775G>C | CA475514477 | KMT5B | c.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=) | |
11 | g.68157775G>T | CA475514478 | KMT5B | c.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=) | |
11 | g.68157776C>A | CA381586016 | KMT5B | c.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) | |
11 | g.68157776C>G | CA381586017 | KMT5B | c.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) | |
11 | g.68157776C>T | CA381586020 | KMT5B | c.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 |
11 | g.68157777G>A | CA381586024 | KMT5B | c.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 |
11 | g.68157777G>C | CA381586030 | KMT5B | c.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) | |
11 | g.68157777G= | CA1980499846 | KMT5B | c.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=) | |
11 | g.68157777G>T | CA381586022 | KMT5B | c.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) | |
11 | g.68157778C>A | CA381586034 | KMT5B | c.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) | |
11 | g.68157778C= | CA1980499852 | KMT5B | c.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=) | |
11 | g.68157778C>G | CA381586041 | KMT5B | c.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) | |
11 | g.68157778C>T | CA475514484 | KMT5B | c.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 |
11 | g.68157779T>A | CA381586044 | KMT5B | c.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) | |
11 | g.68157779T>C | CA381586046 | KMT5B | c.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) | |
11 | g.68157779T>G | CA381586047 | KMT5B | c.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) | |
11 | g.68157780T>A | CA381586050 | KMT5B | c.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) | |
11 | g.68157780T>C | CA381586049 | KMT5B | c.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) | |
11 | g.68157780T>G | CA381586048 | KMT5B | c.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 |
11 | g.68157781A>C | CA475514485 | KMT5B | c.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 |
11 | g.68157781A>G | CA475514486 | KMT5B | c.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=) | |
11 | g.68157781A>T | CA475514487 | KMT5B | c.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=) | |
11 | g.68157782G>A | CA381586053 | KMT5B | c.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) | |
11 | g.68157782G>C | CA381586055 | KMT5B | c.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) | |
11 | g.68157782G>T | CA381586058 | KMT5B | c.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) | |
11 | g.68157783C>A | CA381586061 | KMT5B | c.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) | |
11 | g.68157783C= | CA1980499857 | KMT5B | c.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=) | |
11 | g.68157783C>G | CA381586065 | KMT5B | c.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) | |
11 | g.68157783C>T | CA381586069 | KMT5B | c.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 |
11 | g.68157784T>A | CA475514491 | KMT5B | c.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=) | |
11 | g.68157784T>C | CA475514493 | KMT5B | c.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 |
11 | g.68157784T>G | CA475514492 | KMT5B | c.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=) | |
11 | g.68157784T= | CA1980499863 | KMT5B | c.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=) | |
11 | g.68157785G>A | CA381586075 | KMT5B | c.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) | |
11 | g.68157785G>C | CA381586085 | KMT5B | c.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) | |
11 | g.68157785G>T | CA381586084 | KMT5B | c.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) | |
11 | g.68157786G>A | CA381586099 | KMT5B | c.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) | |
11 | g.68157786G>C | CA381586100 | KMT5B | c.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 |
11 | g.68157786G= | CA1980499866 | KMT5B | c.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=) | |
11 | g.68157786G>T | CA381586105 | KMT5B | c.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) | |
11 | g.68157787A>C | CA475514500 | KMT5B | c.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=) | |
11 | g.68157787A>G | CA475514501 | KMT5B | c.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 |
11 | g.68157787A>T | CA475514502 | KMT5B | c.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 |
11 | g.68157788G>A | CA381586111 | KMT5B | c.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 |
11 | g.68157788G>C | CA381586116 | KMT5B | c.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) | |
11 | g.68157788G>T | CA381586120 | KMT5B | c.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) | |
11 | g.68157789G>A | CA381586133 | KMT5B | c.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 |
11 | g.68157789G>C | CA381586138 | KMT5B | c.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) | |
11 | g.68157789G>T | CA381586141 | KMT5B | c.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) | |
11 | g.68157790A>C | CA475514505 | KMT5B | c.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=) | |
11 | g.68157790A>G | CA475514506 | KMT5B | c.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=) | |
11 | g.68157790A>T | CA475514507 | KMT5B | c.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=) | |
11 | g.68157791A>C | CA381586144 | KMT5B | c.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) | |
11 | g.68157791A>G | CA381586145 | KMT5B | c.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) | |
11 | g.68157791A>T | CA381586146 | KMT5B | c.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) | |
11 | g.68157792G>A | CA381586148 | KMT5B | c.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 |
11 | g.68157792G>C | CA381586150 | KMT5B | c.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) | |
11 | g.68157792G>T | CA381586147 | KMT5B | c.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) | |
11 | g.68157793A>C | CA475514514 | KMT5B | c.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=) | |
11 | g.68157793A>G | CA475514513 | KMT5B | c.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=) | |
11 | g.68157793A>T | CA475514512 | KMT5B | c.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=) | |
11 | g.68157794G>A | CA381586155 | KMT5B | c.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 |
11 | g.68157794G>C | CA381586152 | KMT5B | c.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) | |
11 | g.68157794G>T | CA381586159 | KMT5B | c.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 |
11 | g.68157795G>A | CA381586169 | KMT5B | c.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 |
11 | g.68157795G>C | CA6147993 | KMT5B | c.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 |
11 | g.68157795G= | CA1980499869 | KMT5B | c.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=) | |
11 | g.68157795G>T | CA381586173 | KMT5B | c.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) | |
11 | g.68157796A= | CA1980499873 | KMT5B | c.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=) | |
11 | g.68157796A>C | CA381586179 | KMT5B | c.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) | |
11 | g.68157796A>G | CA475514518 | KMT5B | c.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=) | |
11 | g.68157796A>T | CA475514520 | KMT5B | c.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 |
11 | g.68157797A>C | CA381586183 | KMT5B | c.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) | |
11 | g.68157797A>G | CA381586187 | KMT5B | c.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) | |
11 | g.68157797A>T | CA381586190 | KMT5B | c.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) | |
11 | g.68157798T>A | CA381586212 | KMT5B | c.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) | |
11 | g.68157798T>C | CA381586205 | KMT5B | c.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) | |
11 | g.68157798T>G | CA381586210 | KMT5B | c.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) | |
11 | g.68157799A>C | CA381586217 | KMT5B | c.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) | |
11 | g.68157799A>G | CA475514526 | KMT5B | c.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=) | |
11 | g.68157799A>T | CA381586227 | KMT5B | c.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) | |
11 | g.68157800A>C | CA381586233 | KMT5B | c.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) | |
11 | g.68157800A>G | CA381586238 | KMT5B | c.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) | |
11 | g.68157800A>T | CA381586241 | KMT5B | c.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) | |
11 | g.68157801A>C | CA381586247 | KMT5B | c.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) | |
11 | g.68157801A>G | CA381586251 | KMT5B | c.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) | |
11 | g.68157801A>T | CA381586248 | KMT5B | c.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) | |
11 | g.68157802A= | CA1980499882 | KMT5B | c.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=) | |
11 | g.68157802A>C | CA381586252 | KMT5B | c.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 |
11 | g.68157802A>G | CA475514532 | KMT5B | c.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 |
11 | g.68157802A>T | CA381586255 | KMT5B | c.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) | |
11 | g.68157803T>A | CA381586259 | KMT5B | c.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) | |
11 | g.68157803T>C | CA381586260 | KMT5B | c.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) | |
11 | g.68157803T>G | CA381586262 | KMT5B | c.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) | |
11 | g.68157804C>A | CA381586263 | KMT5B | c.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) | |
11 | g.68157804C>G | CA381586267 | KMT5B | c.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) | |
11 | g.68157804C>T | CA381586270 | KMT5B | c.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 |
11 | g.68157805G>A | CA6147994 | KMT5B | c.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 |
11 | g.68157805G>C | CA381586276 | KMT5B | c.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) | |
11 | g.68157805G= | CA1980499889 | KMT5B | c.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=) | |
11 | g.68157805G>T | CA381586279 | KMT5B | c.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) | |
11 | g.68157806T>A | CA381586285 | KMT5B | c.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) | |
11 | g.68157806T>C | CA381586289 | KMT5B | c.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 |
11 | g.68157806T>G | CA381586287 | KMT5B | c.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) | |
11 | g.68157807C>A | CA381586295 | KMT5B | c.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) | |
11 | g.68157807C>G | CA381586298 | KMT5B | c.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) | |
11 | g.68157807C>T | CA381586301 | KMT5B | c.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 |
11 | g.68157808T>A | CA381586304 | KMT5B | c.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) | |
11 | g.68157808T>C | CA475514534 | KMT5B | c.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 |
11 | g.68157808T>G | CA381586305 | KMT5B | c.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 |
11 | g.68157808T= | CA1980499898 | KMT5B | c.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=) | |
11 | g.68157809T>A | CA381586308 | KMT5B | c.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) | |
11 | g.68157809T>C | CA381586309 | KMT5B | c.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) | |
11 | g.68157809T>G | CA381586315 | KMT5B | c.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) | |
11 | g.68157810C>A | CA381586319 | KMT5B | c.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) | |
11 | g.68157810C= | CA1980499901 | KMT5B | c.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=) | |
11 | g.68157810C>G | CA381586323 | KMT5B | c.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 |
11 | g.68157810C>T | CA224247767 | KMT5B | c.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 |
11 | g.68157811A= | CA1980499905 | KMT5B | c.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=) | |
11 | g.68157811A>C | CA224247774 | KMT5B | c.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 |
11 | g.68157811A>G | CA6147995 | KMT5B | c.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 |
11 | g.68157811A>T | CA381586337 | KMT5B | c.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) | |
11 | g.68157812A>C | CA381586343 | KMT5B | c.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) | |
11 | g.68157812A>G | CA381586345 | KMT5B | c.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) | |
11 | g.68157812A>T | CA381586349 | KMT5B | c.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) | |
11 | g.68157813A>C | CA381586355 | KMT5B | c.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) | |
11 | g.68157813A>G | CA381586358 | KMT5B | c.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) | |
11 | g.68157813A>T | CA381586360 | KMT5B | c.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) | |
11 | g.68157814G>A | CA475514544 | KMT5B | c.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 |
11 | g.68157814G>C | CA381586365 | KMT5B | c.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) | |
11 | g.68157814G= | CA1980499914 | KMT5B | c.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=) | |
11 | g.68157814G>T | CA381586366 | KMT5B | c.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) | |
11 | g.68157814_68157817delinsGTCA | CA1980499912 | KMT5B | c.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=) | |
11 | g.68157815T>A | CA224247794 | KMT5B | c.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 |
11 | g.68157815T>C | CA6147997 | KMT5B | c.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 |
11 | g.68157815T>G | CA381586374 | KMT5B | c.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) | |
11 | g.68157815T= | CA1980499929 | KMT5B | c.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=) | |
11 | g.68157822_68157824dup | CA1980499937 | KMT5B | c.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 |
11 | g.68157822_68157824del | CA6147996 | KMT5B | c.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 |
11 | g.68157816C>A | CA381586392 | KMT5B | c.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) | |
11 | g.68157816C>G | CA381586389 | KMT5B | c.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) | |
11 | g.68157816C>T | CA381586395 | KMT5B | c.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) | |
11 | g.68157817A>C | CA381586402 | KMT5B | c.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) | |
11 | g.68157817A>G | CA475514548 | KMT5B | c.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=) | |
11 | g.68157817A>T | CA381586404 | KMT5B | c.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 |
11 | g.68157818T>A | CA381586416 | KMT5B | c.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) | |
11 | g.68157818T>C | CA381586426 | KMT5B | c.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) | |
11 | g.68157818T>G | CA381586427 | KMT5B | c.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) | |
11 | g.68157819C>A | CA381586436 | KMT5B | c.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) | |
11 | g.68157819C>G | CA381586430 | KMT5B | c.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) | |
11 | g.68157819C>T | CA381586434 | KMT5B | c.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) | |
11 | g.68157820A>C | CA381586441 | KMT5B | c.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) | |
11 | g.68157820A>G | CA475514553 | KMT5B | c.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=) | |
11 | g.68157820A>T | CA381586446 | KMT5B | c.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) | |
11 | g.68157821T>A | CA224247800 | KMT5B | c.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 |
11 | g.68157821T>C | CA381586454 | KMT5B | c.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) | |
11 | g.68157821T>G | CA381586461 | KMT5B | c.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) | |
11 | g.68157821T= | CA1980499945 | KMT5B | c.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=) | |
11 | g.68157822C>A | CA6147998 | KMT5B | c.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 |
11 | g.68157822C= | CA1980499948 | KMT5B | c.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=) | |
11 | g.68157822C>G | CA381586464 | KMT5B | c.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) | |
11 | g.68157822C>T | CA381586465 | KMT5B | c.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) | |
11 | g.68157823A= | CA1980499951 | KMT5B | c.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=) | |
11 | g.68157823A>C | CA381586466 | KMT5B | c.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) | |
11 | g.68157823A>G | CA475514558 | KMT5B | c.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 |
11 | g.68157823A>T | CA381586470 | KMT5B | c.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) | |
11 | g.68157824T>A | CA381586474 | KMT5B | c.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) | |
11 | g.68157824T>C | CA381586479 | KMT5B | c.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 |
11 | g.68157824T>G | CA381586481 | KMT5B | c.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) | |
11 | g.68157824T= | CA1980499956 | KMT5B | c.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=) | |
11 | g.68157825A= | CA1980499966 | KMT5B | c.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=) | |
11 | g.68157825A>C | CA381586485 | KMT5B | c.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) | |
11 | g.68157825A>G | CA381586486 | KMT5B | c.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 |
11 | g.68157825A>T | CA381586487 | KMT5B | c.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) | |
11 | g.68157826G>A | CA475514574 | KMT5B | c.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 |
11 | g.68157826G>C | CA381586488 | KMT5B | c.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) | |
11 | g.68157826G>T | CA381586490 | KMT5B | c.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) | |
11 | g.68157827T>A | CA381586494 | KMT5B | c.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) | |
11 | g.68157827T>C | CA381586497 | KMT5B | c.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) | |
11 | g.68157827T>G | CA381586501 | KMT5B | c.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) | |
11 | g.68157828C>A | CA381586508 | KMT5B | c.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) | |
11 | g.68157828C>G | CA381586515 | KMT5B | c.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) | |
11 | g.68157828C>T | CA381586514 | KMT5B | c.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) | |
11 | g.68157829A>C | CA381586518 | KMT5B | c.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) | |
11 | g.68157829A>G | CA475514579 | KMT5B | c.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=) | |
11 | g.68157829A>T | CA381586522 | KMT5B | c.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) | |
11 | g.68157829_68157832delinsATCC | CA1980499971 | KMT5B | c.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=) | |
11 | g.68157830T>A | CA381586525 | KMT5B | c.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) | |
11 | g.68157830T>C | CA381586526 | KMT5B | c.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) | |
11 | g.68157830T>G | CA381586531 | KMT5B | c.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) | |
11 | g.68157835_68157837del | CA6147999 | KMT5B | c.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 |
11 | g.68157831C>A | CA381586536 | KMT5B | c.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) | |
11 | g.68157831C>G | CA381586540 | KMT5B | c.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) | |
11 | g.68157831C>T | CA381586543 | KMT5B | c.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 |
11 | g.68157832C>A | CA381586546 | KMT5B | c.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) | |
11 | g.68157832C= | CA1980499978 | KMT5B | c.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=) | |
11 | g.68157832C>G | CA381586548 | KMT5B | c.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) | |
11 | g.68157832C>T | CA475514588 | KMT5B | c.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 |
11 | g.68157833T>A | CA381586561 | KMT5B | c.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) | |
11 | g.68157833T>C | CA381586557 | KMT5B | c.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) | |
11 | g.68157833T>G | CA381586553 | KMT5B | c.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) | |
11 | g.68157834C>A | CA381586564 | KMT5B | c.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) | |
11 | g.68157834C= | CA1980499986 | KMT5B | c.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=) | |
11 | g.68157834C>G | CA6148000 | KMT5B | c.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 |
11 | g.68157834C>T | CA381586570 | KMT5B | c.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) | |
11 | g.68157835C>A | CA381586573 | KMT5B | c.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) | |
11 | g.68157835C= | CA1980499997 | KMT5B | c.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=) | |
11 | g.68157835C>G | CA381586577 | KMT5B | c.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) | |
11 | g.68157835C>T | CA475514597 | KMT5B | c.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 |
11 | g.68157835_68157838delinsCTCT | CA1980499996 | KMT5B | c.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=) | |
11 | g.68157836T>A | CA381586582 | KMT5B | c.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) | |
11 | g.68157836T>C | CA381586586 | KMT5B | c.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) | |
11 | g.68157836T>G | CA381586590 | KMT5B | c.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) | |
11 | g.68157838_68157840del | CA6148001 | KMT5B | c.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 |
11 | g.68157837C>A | CA381586594 | KMT5B | c.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) | |
11 | g.68157837C>G | CA381586596 | KMT5B | c.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) | |
11 | g.68157837C>T | CA381586599 | KMT5B | c.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 |
11 | g.68157838T>A | CA381586604 | KMT5B | c.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) | |
11 | g.68157838T>C | CA6148002 | KMT5B | c.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 |
11 | g.68157838T>G | CA381586602 | KMT5B | c.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) | |
11 | g.68157838T= | CA1980500006 | KMT5B | c.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=) | |
11 | g.68157839T>A | CA381586614 | KMT5B | c.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) | |
11 | g.68157839T>C | CA381586609 | KMT5B | c.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) | |
11 | g.68157839T>G | CA381586616 | KMT5B | c.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) | |
11 | g.68157841_68157843del | CA2574900136 | KMT5B | c.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) | |
11 | g.68157840C>A | CA381586618 | KMT5B | c.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) | |
11 | g.68157840C= | CA1980500009 | KMT5B | c.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=) | |
11 | g.68157840C>G | CA381586620 | KMT5B | c.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) | |
11 | g.68157840C>T | CA381586622 | KMT5B | c.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 |
11 | g.68157840_68157841insTGAGGGCG | CA2792531613 | KMT5B | c.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) | |
11 | g.68157841A= | CA1980500010 | KMT5B | c.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=) | |
11 | g.68157841A>C | CA381586624 | KMT5B | c.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 |
11 | g.68157841A>G | CA475514610 | KMT5B | c.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=) | |
11 | g.68157841A>T | CA381586626 | KMT5B | c.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) | |
11 | g.68157842T>A | CA381586630 | KMT5B | c.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) | |
11 | g.68157842T>C | CA381586633 | KMT5B | c.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) | |
11 | g.68157842T>G | CA381586636 | KMT5B | c.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) | |
11 | g.68157843C>A | CA381586639 | KMT5B | c.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) | |
11 | g.68157843C= | CA1980500012 | KMT5B | c.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=) | |
11 | g.68157843C>G | CA381586643 | KMT5B | c.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) | |
11 | g.68157843C>T | CA6148003 | KMT5B | c.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 |
11 | g.68157843_68157850del | CA2792531614 | KMT5B | c.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) | |
11 | g.68157844G>A | CA6148004 | KMT5B | c.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 |
11 | g.68157844G>C | CA475514615 | KMT5B | c.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=) | |
11 | g.68157844G= | CA1980500016 | KMT5B | c.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=) | |
11 | g.68157844G>T | CA475514616 | KMT5B | c.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=) | |
11 | g.68157845C>A | CA381586657 | KMT5B | c.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) | |
11 | g.68157845C>G | CA381586652 | KMT5B | c.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) | |
11 | g.68157845C>T | CA381586655 | KMT5B | c.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) | |
11 | g.68157846C>A | CA381586663 | KMT5B | c.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) | |
11 | g.68157846C= | CA1980500019 | KMT5B | c.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=) | |
11 | g.68157846C>G | CA381586664 | KMT5B | c.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) | |
11 | g.68157846C>T | CA381586666 | KMT5B | c.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 |
11 | g.68157847C>A | CA381586669 | KMT5B | c.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) | |
11 | g.68157847C>G | CA381586672 | KMT5B | c.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) | |
11 | g.68157847C>T | CA475514620 | KMT5B | c.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=) | |
11 | g.68157848del | CA2695214891 | KMT5B | c.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) | |
11 | g.68157848T>A | CA381586676 | KMT5B | c.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) | |
11 | g.68157848T>C | CA381586679 | KMT5B | c.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) | |
11 | g.68157848T>G | CA381586682 | KMT5B | c.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) | |
11 | g.68157849C>A | CA10581482 | KMT5B | c.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 |
11 | g.68157849C= | CA1980500030 | KMT5B | c.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=) | |
11 | g.68157849C>G | CA381586690 | KMT5B | c.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) | |
11 | g.68157849C>T | CA381586694 | KMT5B | c.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) | |
11 | g.68157849_68157851del | CA2614700398 | KMT5B | c.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 |
11 | g.68157849_68157852delinsCAGA | CA1980500025 | KMT5B | c.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=) | |
11 | g.68157850A>C | CA475514624 | KMT5B | c.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=) | |
11 | g.68157850A>G | CA475514625 | KMT5B | c.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=) | |
11 | g.68157850A>T | CA475514626 | KMT5B | c.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=) | |
11 | g.68157853_68157855del | CA600238789 | KMT5B | c.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 |
11 | g.68157851G>A | CA381586699 | KMT5B | c.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 |
11 | g.68157851G>C | CA6148005 | KMT5B | c.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 |
11 | g.68157851G= | CA1980500039 | KMT5B | c.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=) | |
11 | g.68157851G>T | CA381586696 | KMT5B | c.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) | |
11 | g.68157852A= | CA1980500044 | KMT5B | c.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=) | |
11 | g.68157852A>C | CA381586703 | KMT5B | c.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) | |
11 | g.68157852A>G | CA224247861 | KMT5B | c.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 |
11 | g.68157852A>T | CA381586708 | KMT5B | c.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) | |
11 | g.68157853A>C | CA475514631 | KMT5B | c.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=) | |
11 | g.68157853A>G | CA475514632 | KMT5B | c.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=) | |
11 | g.68157853A>T | CA475514633 | KMT5B | c.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=) | |
11 | g.68157853_68157856delinsAGAG | CA1980500050 | KMT5B | c.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=) |