Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.68157937A= | CA1980500270 | KMT5B | c.2196T= (p.Ser732=) n.2761T= c.*2033T= (n.*2033T=) c.*2076T= (n.*2076T=) c.1893T= (p.Ser631=) c.*1617T= (n.*1617T=) c.2409T= (p.Ser803=) c.1689T= (p.Ser563=) c.2340T= (p.Ser780=) c.1167T= (p.Ser389=) | |
11 | g.68157937A>C | CA381587326 | KMT5B | c.2196T>G (p.Ser732Arg) n.2761T>G c.*2033T>G (n.*2033T>G) c.*2076T>G (n.*2076T>G) c.1893T>G (p.Ser631Arg) c.*1617T>G (n.*1617T>G) c.2409T>G (p.Ser803Arg) c.1689T>G (p.Ser563Arg) c.2340T>G (p.Ser780Arg) c.1167T>G (p.Ser389Arg) | |
11 | g.68157937A>G | CA6148015 | KMT5B | c.2196T>C (p.Ser732=) n.2761T>C c.*2033T>C (n.*2033T>C) c.*2076T>C (n.*2076T>C) c.1893T>C (p.Ser631=) c.*1617T>C (n.*1617T>C) c.2409T>C (p.Ser803=) c.1689T>C (p.Ser563=) c.2340T>C (p.Ser780=) c.1167T>C (p.Ser389=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68157937A>T | CA381587327 | KMT5B | c.2196T>A (p.Ser732Arg) n.2761T>A c.*2033T>A (n.*2033T>A) c.*2076T>A (n.*2076T>A) c.1893T>A (p.Ser631Arg) c.*1617T>A (n.*1617T>A) c.2409T>A (p.Ser803Arg) c.1689T>A (p.Ser563Arg) c.2340T>A (p.Ser780Arg) c.1167T>A (p.Ser389Arg) | |
11 | g.68157938C>A | CA381587330 | KMT5B | c.2195G>T (p.Ser732Ile) n.2760G>T c.*2032G>T (n.*2032G>T) c.*2075G>T (n.*2075G>T) c.1892G>T (p.Ser631Ile) c.*1616G>T (n.*1616G>T) c.2408G>T (p.Ser803Ile) c.1688G>T (p.Ser563Ile) c.2339G>T (p.Ser780Ile) c.1166G>T (p.Ser389Ile) | COSMIC COSMIC |
11 | g.68157938C>G | CA381587331 | KMT5B | c.2195G>C (p.Ser732Thr) n.2760G>C c.*2032G>C (n.*2032G>C) c.*2075G>C (n.*2075G>C) c.1892G>C (p.Ser631Thr) c.*1616G>C (n.*1616G>C) c.2408G>C (p.Ser803Thr) c.1688G>C (p.Ser563Thr) c.2339G>C (p.Ser780Thr) c.1166G>C (p.Ser389Thr) | gnomAD v4 |
11 | g.68157938C>T | CA381587332 | KMT5B | c.2195G>A (p.Ser732Asn) n.2760G>A c.*2032G>A (n.*2032G>A) c.*2075G>A (n.*2075G>A) c.1892G>A (p.Ser631Asn) c.*1616G>A (n.*1616G>A) c.2408G>A (p.Ser803Asn) c.1688G>A (p.Ser563Asn) c.2339G>A (p.Ser780Asn) c.1166G>A (p.Ser389Asn) | |
11 | g.68157939T>A | CA381587333 | KMT5B | c.2194A>T (p.Ser732Cys) n.2759A>T c.*2031A>T (n.*2031A>T) c.*2074A>T (n.*2074A>T) c.1891A>T (p.Ser631Cys) c.*1615A>T (n.*1615A>T) c.2407A>T (p.Ser803Cys) c.1687A>T (p.Ser563Cys) c.2338A>T (p.Ser780Cys) c.1165A>T (p.Ser389Cys) | |
11 | g.68157939T>C | CA224247937 | KMT5B | c.2194A>G (p.Ser732Gly) n.2759A>G c.*2031A>G (n.*2031A>G) c.*2074A>G (n.*2074A>G) c.1891A>G (p.Ser631Gly) c.*1615A>G (n.*1615A>G) c.2407A>G (p.Ser803Gly) c.1687A>G (p.Ser563Gly) c.2338A>G (p.Ser780Gly) c.1165A>G (p.Ser389Gly) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68157939T>G | CA381587335 | KMT5B | c.2194A>C (p.Ser732Arg) n.2759A>C c.*2031A>C (n.*2031A>C) c.*2074A>C (n.*2074A>C) c.1891A>C (p.Ser631Arg) c.*1615A>C (n.*1615A>C) c.2407A>C (p.Ser803Arg) c.1687A>C (p.Ser563Arg) c.2338A>C (p.Ser780Arg) c.1165A>C (p.Ser389Arg) | |
11 | g.68157939T= | CA1980500285 | KMT5B | c.2194A= (p.Ser732=) n.2759A= c.*2031A= (n.*2031A=) c.*2074A= (n.*2074A=) c.1891A= (p.Ser631=) c.*1615A= (n.*1615A=) c.2407A= (p.Ser803=) c.1687A= (p.Ser563=) c.2338A= (p.Ser780=) c.1165A= (p.Ser389=) | |
11 | g.68157940G>A | CA475514716 | KMT5B | c.2193C>T (p.Cys731=) n.2758C>T c.*2030C>T (n.*2030C>T) c.*2073C>T (n.*2073C>T) c.1890C>T (p.Cys630=) c.*1614C>T (n.*1614C>T) c.2406C>T (p.Cys802=) c.1686C>T (p.Cys562=) c.2337C>T (p.Cys779=) c.1164C>T (p.Cys388=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68157940G>C | CA381587337 | KMT5B | c.2193C>G (p.Cys731Trp) n.2758C>G c.*2030C>G (n.*2030C>G) c.*2073C>G (n.*2073C>G) c.1890C>G (p.Cys630Trp) c.*1614C>G (n.*1614C>G) c.2406C>G (p.Cys802Trp) c.1686C>G (p.Cys562Trp) c.2337C>G (p.Cys779Trp) c.1164C>G (p.Cys388Trp) | |
11 | g.68157940G= | CA1980500289 | KMT5B | c.2193C= (p.Cys731=) n.2758C= c.*2030C= (n.*2030C=) c.*2073C= (n.*2073C=) c.1890C= (p.Cys630=) c.*1614C= (n.*1614C=) c.2406C= (p.Cys802=) c.1686C= (p.Cys562=) c.2337C= (p.Cys779=) c.1164C= (p.Cys388=) | |
11 | g.68157940G>T | CA381587340 | KMT5B | c.2193C>A (p.Cys731Ter) n.2758C>A c.*2030C>A (n.*2030C>A) c.*2073C>A (n.*2073C>A) c.1890C>A (p.Cys630Ter) c.*1614C>A (n.*1614C>A) c.2406C>A (p.Cys802Ter) c.1686C>A (p.Cys562Ter) c.2337C>A (p.Cys779Ter) c.1164C>A (p.Cys388Ter) | |
11 | g.68157941C>A | CA381587341 | KMT5B | c.2192G>T (p.Cys731Phe) n.2757G>T c.*2029G>T (n.*2029G>T) c.*2072G>T (n.*2072G>T) c.1889G>T (p.Cys630Phe) c.*1613G>T (n.*1613G>T) c.2405G>T (p.Cys802Phe) c.1685G>T (p.Cys562Phe) c.2336G>T (p.Cys779Phe) c.1163G>T (p.Cys388Phe) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68157941C= | CA1980500294 | KMT5B | c.2192G= (p.Cys731=) n.2757G= c.*2029G= (n.*2029G=) c.*2072G= (n.*2072G=) c.1889G= (p.Cys630=) c.*1613G= (n.*1613G=) c.2405G= (p.Cys802=) c.1685G= (p.Cys562=) c.2336G= (p.Cys779=) c.1163G= (p.Cys388=) | |
11 | g.68157941C>G | CA381587346 | KMT5B | c.2192G>C (p.Cys731Ser) n.2757G>C c.*2029G>C (n.*2029G>C) c.*2072G>C (n.*2072G>C) c.1889G>C (p.Cys630Ser) c.*1613G>C (n.*1613G>C) c.2405G>C (p.Cys802Ser) c.1685G>C (p.Cys562Ser) c.2336G>C (p.Cys779Ser) c.1163G>C (p.Cys388Ser) | |
11 | g.68157941C>T | CA381587349 | KMT5B | c.2192G>A (p.Cys731Tyr) n.2757G>A c.*2029G>A (n.*2029G>A) c.*2072G>A (n.*2072G>A) c.1889G>A (p.Cys630Tyr) c.*1613G>A (n.*1613G>A) c.2405G>A (p.Cys802Tyr) c.1685G>A (p.Cys562Tyr) c.2336G>A (p.Cys779Tyr) c.1163G>A (p.Cys388Tyr) | |
11 | g.68157942A>C | CA381587356 | KMT5B | c.2191T>G (p.Cys731Gly) n.2756T>G c.*2028T>G (n.*2028T>G) c.*2071T>G (n.*2071T>G) c.1888T>G (p.Cys630Gly) c.*1612T>G (n.*1612T>G) c.2404T>G (p.Cys802Gly) c.1684T>G (p.Cys562Gly) c.2335T>G (p.Cys779Gly) c.1162T>G (p.Cys388Gly) | |
11 | g.68157942A>G | CA381587367 | KMT5B | c.2191T>C (p.Cys731Arg) n.2756T>C c.*2028T>C (n.*2028T>C) c.*2071T>C (n.*2071T>C) c.1888T>C (p.Cys630Arg) c.*1612T>C (n.*1612T>C) c.2404T>C (p.Cys802Arg) c.1684T>C (p.Cys562Arg) c.2335T>C (p.Cys779Arg) c.1162T>C (p.Cys388Arg) | gnomAD v4 |
11 | g.68157942A>T | CA381587352 | KMT5B | c.2191T>A (p.Cys731Ser) n.2756T>A c.*2028T>A (n.*2028T>A) c.*2071T>A (n.*2071T>A) c.1888T>A (p.Cys630Ser) c.*1612T>A (n.*1612T>A) c.2404T>A (p.Cys802Ser) c.1684T>A (p.Cys562Ser) c.2335T>A (p.Cys779Ser) c.1162T>A (p.Cys388Ser) | |
11 | g.68157943G>A | CA475514717 | KMT5B | c.2190C>T (p.Cys730=) n.2755C>T c.*2027C>T (n.*2027C>T) c.*2070C>T (n.*2070C>T) c.1887C>T (p.Cys629=) c.*1611C>T (n.*1611C>T) c.2403C>T (p.Cys801=) c.1683C>T (p.Cys561=) c.2334C>T (p.Cys778=) c.1161C>T (p.Cys387=) | |
11 | g.68157943G>C | CA381587371 | KMT5B | c.2190C>G (p.Cys730Trp) n.2755C>G c.*2027C>G (n.*2027C>G) c.*2070C>G (n.*2070C>G) c.1887C>G (p.Cys629Trp) c.*1611C>G (n.*1611C>G) c.2403C>G (p.Cys801Trp) c.1683C>G (p.Cys561Trp) c.2334C>G (p.Cys778Trp) c.1161C>G (p.Cys387Trp) | |
11 | g.68157943G>T | CA381587380 | KMT5B | c.2190C>A (p.Cys730Ter) n.2755C>A c.*2027C>A (n.*2027C>A) c.*2070C>A (n.*2070C>A) c.1887C>A (p.Cys629Ter) c.*1611C>A (n.*1611C>A) c.2403C>A (p.Cys801Ter) c.1683C>A (p.Cys561Ter) c.2334C>A (p.Cys778Ter) c.1161C>A (p.Cys387Ter) | |
11 | g.68157944C>A | CA381587384 | KMT5B | c.2189G>T (p.Cys730Phe) n.2754G>T c.*2026G>T (n.*2026G>T) c.*2069G>T (n.*2069G>T) c.1886G>T (p.Cys629Phe) c.*1610G>T (n.*1610G>T) c.2402G>T (p.Cys801Phe) c.1682G>T (p.Cys561Phe) c.2333G>T (p.Cys778Phe) c.1160G>T (p.Cys387Phe) | |
11 | g.68157944C>G | CA381587386 | KMT5B | c.2189G>C (p.Cys730Ser) n.2754G>C c.*2026G>C (n.*2026G>C) c.*2069G>C (n.*2069G>C) c.1886G>C (p.Cys629Ser) c.*1610G>C (n.*1610G>C) c.2402G>C (p.Cys801Ser) c.1682G>C (p.Cys561Ser) c.2333G>C (p.Cys778Ser) c.1160G>C (p.Cys387Ser) | |
11 | g.68157944C>T | CA381587390 | KMT5B | c.2189G>A (p.Cys730Tyr) n.2754G>A c.*2026G>A (n.*2026G>A) c.*2069G>A (n.*2069G>A) c.1886G>A (p.Cys629Tyr) c.*1610G>A (n.*1610G>A) c.2402G>A (p.Cys801Tyr) c.1682G>A (p.Cys561Tyr) c.2333G>A (p.Cys778Tyr) c.1160G>A (p.Cys387Tyr) | |
11 | g.68157945A>C | CA381587397 | KMT5B | c.2188T>G (p.Cys730Gly) n.2753T>G c.*2025T>G (n.*2025T>G) c.*2068T>G (n.*2068T>G) c.1885T>G (p.Cys629Gly) c.*1609T>G (n.*1609T>G) c.2401T>G (p.Cys801Gly) c.1681T>G (p.Cys561Gly) c.2332T>G (p.Cys778Gly) c.1159T>G (p.Cys387Gly) | |
11 | g.68157945A>G | CA381587396 | KMT5B | c.2188T>C (p.Cys730Arg) n.2753T>C c.*2025T>C (n.*2025T>C) c.*2068T>C (n.*2068T>C) c.1885T>C (p.Cys629Arg) c.*1609T>C (n.*1609T>C) c.2401T>C (p.Cys801Arg) c.1681T>C (p.Cys561Arg) c.2332T>C (p.Cys778Arg) c.1159T>C (p.Cys387Arg) | |
11 | g.68157945A>T | CA381587393 | KMT5B | c.2188T>A (p.Cys730Ser) n.2753T>A c.*2025T>A (n.*2025T>A) c.*2068T>A (n.*2068T>A) c.1885T>A (p.Cys629Ser) c.*1609T>A (n.*1609T>A) c.2401T>A (p.Cys801Ser) c.1681T>A (p.Cys561Ser) c.2332T>A (p.Cys778Ser) c.1159T>A (p.Cys387Ser) | |
11 | g.68157946C>A | CA475514718 | KMT5B | c.2187G>T (p.Val729=) n.2752G>T c.*2024G>T (n.*2024G>T) c.*2067G>T (n.*2067G>T) c.1884G>T (p.Val628=) c.*1608G>T (n.*1608G>T) c.2400G>T (p.Val800=) c.1680G>T (p.Val560=) c.2331G>T (p.Val777=) c.1158G>T (p.Val386=) | |
11 | g.68157946C= | CA1980500297 | KMT5B | c.2187G= (p.Val729=) n.2752G= c.*2024G= (n.*2024G=) c.*2067G= (n.*2067G=) c.1884G= (p.Val628=) c.*1608G= (n.*1608G=) c.2400G= (p.Val800=) c.1680G= (p.Val560=) c.2331G= (p.Val777=) c.1158G= (p.Val386=) | |
11 | g.68157946C>G | CA475514719 | KMT5B | c.2187G>C (p.Val729=) n.2752G>C c.*2024G>C (n.*2024G>C) c.*2067G>C (n.*2067G>C) c.1884G>C (p.Val628=) c.*1608G>C (n.*1608G>C) c.2400G>C (p.Val800=) c.1680G>C (p.Val560=) c.2331G>C (p.Val777=) c.1158G>C (p.Val386=) | |
11 | g.68157946C>T | CA475514720 | KMT5B | c.2187G>A (p.Val729=) n.2752G>A c.*2024G>A (n.*2024G>A) c.*2067G>A (n.*2067G>A) c.1884G>A (p.Val628=) c.*1608G>A (n.*1608G>A) c.2400G>A (p.Val800=) c.1680G>A (p.Val560=) c.2331G>A (p.Val777=) c.1158G>A (p.Val386=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68157947A>C | CA381587400 | KMT5B | c.2186T>G (p.Val729Gly) n.2751T>G c.*2023T>G (n.*2023T>G) c.*2066T>G (n.*2066T>G) c.1883T>G (p.Val628Gly) c.*1607T>G (n.*1607T>G) c.2399T>G (p.Val800Gly) c.1679T>G (p.Val560Gly) c.2330T>G (p.Val777Gly) c.1157T>G (p.Val386Gly) | |
11 | g.68157947A>G | CA381587401 | KMT5B | c.2186T>C (p.Val729Ala) n.2751T>C c.*2023T>C (n.*2023T>C) c.*2066T>C (n.*2066T>C) c.1883T>C (p.Val628Ala) c.*1607T>C (n.*1607T>C) c.2399T>C (p.Val800Ala) c.1679T>C (p.Val560Ala) c.2330T>C (p.Val777Ala) c.1157T>C (p.Val386Ala) | |
11 | g.68157947A>T | CA381587405 | KMT5B | c.2186T>A (p.Val729Glu) n.2751T>A c.*2023T>A (n.*2023T>A) c.*2066T>A (n.*2066T>A) c.1883T>A (p.Val628Glu) c.*1607T>A (n.*1607T>A) c.2399T>A (p.Val800Glu) c.1679T>A (p.Val560Glu) c.2330T>A (p.Val777Glu) c.1157T>A (p.Val386Glu) | |
11 | g.68157948C>A | CA381587410 | KMT5B | c.2185G>T (p.Val729Leu) n.2750G>T c.*2022G>T (n.*2022G>T) c.*2065G>T (n.*2065G>T) c.1882G>T (p.Val628Leu) c.*1606G>T (n.*1606G>T) c.2398G>T (p.Val800Leu) c.1678G>T (p.Val560Leu) c.2329G>T (p.Val777Leu) c.1156G>T (p.Val386Leu) | |
11 | g.68157948C>G | CA381587414 | KMT5B | c.2185G>C (p.Val729Leu) n.2750G>C c.*2022G>C (n.*2022G>C) c.*2065G>C (n.*2065G>C) c.1882G>C (p.Val628Leu) c.*1606G>C (n.*1606G>C) c.2398G>C (p.Val800Leu) c.1678G>C (p.Val560Leu) c.2329G>C (p.Val777Leu) c.1156G>C (p.Val386Leu) | |
11 | g.68157948C>T | CA381587419 | KMT5B | c.2185G>A (p.Val729Met) n.2750G>A c.*2022G>A (n.*2022G>A) c.*2065G>A (n.*2065G>A) c.1882G>A (p.Val628Met) c.*1606G>A (n.*1606G>A) c.2398G>A (p.Val800Met) c.1678G>A (p.Val560Met) c.2329G>A (p.Val777Met) c.1156G>A (p.Val386Met) | gnomAD v4 |
11 | g.68157950_68157951del | CA645596786 | KMT5B | c.2184_2185del (p.Cys730LeufsTer3) n.2749_2750del c.*2021_*2022del (n.*2021_*2022del) c.*2064_*2065del (n.*2064_*2065del) c.1881_1882del (p.Cys629LeufsTer3) c.*1605_*1606del (n.*1605_*1606del) c.2397_2398del (p.Cys801LeufsTer3) c.1677_1678del (p.Cys561LeufsTer3) c.2328_2329del (p.Cys778LeufsTer3) c.1155_1156del (p.Cys387LeufsTer3) | COSMIC |
11 | g.68157949C>A | CA475514721 | KMT5B | c.2184G>T (p.Gly728=) n.2749G>T c.*2021G>T (n.*2021G>T) c.*2064G>T (n.*2064G>T) c.1881G>T (p.Gly627=) c.*1605G>T (n.*1605G>T) c.2397G>T (p.Gly799=) c.1677G>T (p.Gly559=) c.2328G>T (p.Gly776=) c.1155G>T (p.Gly385=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68157949C= | CA1980500306 | KMT5B | c.2184G= (p.Gly728=) n.2749G= c.*2021G= (n.*2021G=) c.*2064G= (n.*2064G=) c.1881G= (p.Gly627=) c.*1605G= (n.*1605G=) c.2397G= (p.Gly799=) c.1677G= (p.Gly559=) c.2328G= (p.Gly776=) c.1155G= (p.Gly385=) | |
11 | g.68157949C>G | CA475514722 | KMT5B | c.2184G>C (p.Gly728=) n.2749G>C c.*2021G>C (n.*2021G>C) c.*2064G>C (n.*2064G>C) c.1881G>C (p.Gly627=) c.*1605G>C (n.*1605G>C) c.2397G>C (p.Gly799=) c.1677G>C (p.Gly559=) c.2328G>C (p.Gly776=) c.1155G>C (p.Gly385=) | |
11 | g.68157949C>T | CA475514723 | KMT5B | c.2184G>A (p.Gly728=) n.2749G>A c.*2021G>A (n.*2021G>A) c.*2064G>A (n.*2064G>A) c.1881G>A (p.Gly627=) c.*1605G>A (n.*1605G>A) c.2397G>A (p.Gly799=) c.1677G>A (p.Gly559=) c.2328G>A (p.Gly776=) c.1155G>A (p.Gly385=) | gnomAD v4 |
11 | g.68157950C>A | CA381587432 | KMT5B | c.2183G>T (p.Gly728Val) n.2748G>T c.*2020G>T (n.*2020G>T) c.*2063G>T (n.*2063G>T) c.1880G>T (p.Gly627Val) c.*1604G>T (n.*1604G>T) c.2396G>T (p.Gly799Val) c.1676G>T (p.Gly559Val) c.2327G>T (p.Gly776Val) c.1154G>T (p.Gly385Val) | |
11 | g.68157950C>G | CA381587423 | KMT5B | c.2183G>C (p.Gly728Ala) n.2748G>C c.*2020G>C (n.*2020G>C) c.*2063G>C (n.*2063G>C) c.1880G>C (p.Gly627Ala) c.*1604G>C (n.*1604G>C) c.2396G>C (p.Gly799Ala) c.1676G>C (p.Gly559Ala) c.2327G>C (p.Gly776Ala) c.1154G>C (p.Gly385Ala) | |
11 | g.68157950C>T | CA381587429 | KMT5B | c.2183G>A (p.Gly728Glu) n.2748G>A c.*2020G>A (n.*2020G>A) c.*2063G>A (n.*2063G>A) c.1880G>A (p.Gly627Glu) c.*1604G>A (n.*1604G>A) c.2396G>A (p.Gly799Glu) c.1676G>A (p.Gly559Glu) c.2327G>A (p.Gly776Glu) c.1154G>A (p.Gly385Glu) | |
11 | g.68157951C>A | CA381587436 | KMT5B | c.2182G>T (p.Gly728Trp) n.2747G>T c.*2019G>T (n.*2019G>T) c.*2062G>T (n.*2062G>T) c.1879G>T (p.Gly627Trp) c.*1603G>T (n.*1603G>T) c.2395G>T (p.Gly799Trp) c.1675G>T (p.Gly559Trp) c.2326G>T (p.Gly776Trp) c.1153G>T (p.Gly385Trp) | |
11 | g.68157951C= | CA1980500310 | KMT5B | c.2182G= (p.Gly728=) n.2747G= c.*2019G= (n.*2019G=) c.*2062G= (n.*2062G=) c.1879G= (p.Gly627=) c.*1603G= (n.*1603G=) c.2395G= (p.Gly799=) c.1675G= (p.Gly559=) c.2326G= (p.Gly776=) c.1153G= (p.Gly385=) | |
11 | g.68157951C>G | CA6148016 | KMT5B | c.2182G>C (p.Gly728Arg) n.2747G>C c.*2019G>C (n.*2019G>C) c.*2062G>C (n.*2062G>C) c.1879G>C (p.Gly627Arg) c.*1603G>C (n.*1603G>C) c.2395G>C (p.Gly799Arg) c.1675G>C (p.Gly559Arg) c.2326G>C (p.Gly776Arg) c.1153G>C (p.Gly385Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68157951C>T | CA381587447 | KMT5B | c.2182G>A (p.Gly728Arg) n.2747G>A c.*2019G>A (n.*2019G>A) c.*2062G>A (n.*2062G>A) c.1879G>A (p.Gly627Arg) c.*1603G>A (n.*1603G>A) c.2395G>A (p.Gly799Arg) c.1675G>A (p.Gly559Arg) c.2326G>A (p.Gly776Arg) c.1153G>A (p.Gly385Arg) | |
11 | g.68157952A>C | CA381587452 | KMT5B | c.2181T>G (p.Asn727Lys) n.2746T>G c.*2018T>G (n.*2018T>G) c.*2061T>G (n.*2061T>G) c.1878T>G (p.Asn626Lys) c.*1602T>G (n.*1602T>G) c.2394T>G (p.Asn798Lys) c.1674T>G (p.Asn558Lys) c.2325T>G (p.Asn775Lys) c.1152T>G (p.Asn384Lys) | |
11 | g.68157952A>G | CA475514724 | KMT5B | c.2181T>C (p.Asn727=) n.2746T>C c.*2018T>C (n.*2018T>C) c.*2061T>C (n.*2061T>C) c.1878T>C (p.Asn626=) c.*1602T>C (n.*1602T>C) c.2394T>C (p.Asn798=) c.1674T>C (p.Asn558=) c.2325T>C (p.Asn775=) c.1152T>C (p.Asn384=) | |
11 | g.68157952A>T | CA381587455 | KMT5B | c.2181T>A (p.Asn727Lys) n.2746T>A c.*2018T>A (n.*2018T>A) c.*2061T>A (n.*2061T>A) c.1878T>A (p.Asn626Lys) c.*1602T>A (n.*1602T>A) c.2394T>A (p.Asn798Lys) c.1674T>A (p.Asn558Lys) c.2325T>A (p.Asn775Lys) c.1152T>A (p.Asn384Lys) | |
11 | g.68157953T>A | CA381587459 | KMT5B | c.2180A>T (p.Asn727Ile) n.2745A>T c.*2017A>T (n.*2017A>T) c.*2060A>T (n.*2060A>T) c.1877A>T (p.Asn626Ile) c.*1601A>T (n.*1601A>T) c.2393A>T (p.Asn798Ile) c.1673A>T (p.Asn558Ile) c.2324A>T (p.Asn775Ile) c.1151A>T (p.Asn384Ile) | |
11 | g.68157953T>C | CA381587460 | KMT5B | c.2180A>G (p.Asn727Ser) n.2745A>G c.*2017A>G (n.*2017A>G) c.*2060A>G (n.*2060A>G) c.1877A>G (p.Asn626Ser) c.*1601A>G (n.*1601A>G) c.2393A>G (p.Asn798Ser) c.1673A>G (p.Asn558Ser) c.2324A>G (p.Asn775Ser) c.1151A>G (p.Asn384Ser) | |
11 | g.68157953T>G | CA381587464 | KMT5B | c.2180A>C (p.Asn727Thr) n.2745A>C c.*2017A>C (n.*2017A>C) c.*2060A>C (n.*2060A>C) c.1877A>C (p.Asn626Thr) c.*1601A>C (n.*1601A>C) c.2393A>C (p.Asn798Thr) c.1673A>C (p.Asn558Thr) c.2324A>C (p.Asn775Thr) c.1151A>C (p.Asn384Thr) | |
11 | g.68157956dup | CA2499221255 | KMT5B | c.2180dup (p.Asn727LysfsTer7) n.2745dup c.*2017dup (n.*2017dup) c.*2060dup (n.*2060dup) c.1877dup (p.Asn626LysfsTer7) c.*1601dup (n.*1601dup) c.2393dup (p.Asn798LysfsTer7) c.1673dup (p.Asn558LysfsTer7) c.2324dup (p.Asn775LysfsTer7) c.1151dup (p.Asn384LysfsTer7) | ClinVar dbSNP |
11 | g.68157954T>A | CA381587471 | KMT5B | c.2179A>T (p.Asn727Tyr) n.2744A>T c.*2016A>T (n.*2016A>T) c.*2059A>T (n.*2059A>T) c.1876A>T (p.Asn626Tyr) c.*1600A>T (n.*1600A>T) c.2392A>T (p.Asn798Tyr) c.1672A>T (p.Asn558Tyr) c.2323A>T (p.Asn775Tyr) c.1150A>T (p.Asn384Tyr) | |
11 | g.68157954T>C | CA381587476 | KMT5B | c.2179A>G (p.Asn727Asp) n.2744A>G c.*2016A>G (n.*2016A>G) c.*2059A>G (n.*2059A>G) c.1876A>G (p.Asn626Asp) c.*1600A>G (n.*1600A>G) c.2392A>G (p.Asn798Asp) c.1672A>G (p.Asn558Asp) c.2323A>G (p.Asn775Asp) c.1150A>G (p.Asn384Asp) | |
11 | g.68157954T>G | CA381587479 | KMT5B | c.2179A>C (p.Asn727His) n.2744A>C c.*2016A>C (n.*2016A>C) c.*2059A>C (n.*2059A>C) c.1876A>C (p.Asn626His) c.*1600A>C (n.*1600A>C) c.2392A>C (p.Asn798His) c.1672A>C (p.Asn558His) c.2323A>C (p.Asn775His) c.1150A>C (p.Asn384His) | |
11 | g.68157955T>A | CA381587482 | KMT5B | c.2178A>T (p.Glu726Asp) n.2743A>T c.*2015A>T (n.*2015A>T) c.*2058A>T (n.*2058A>T) c.1875A>T (p.Glu625Asp) c.*1599A>T (n.*1599A>T) c.2391A>T (p.Glu797Asp) c.1671A>T (p.Glu557Asp) c.2322A>T (p.Glu774Asp) c.1149A>T (p.Glu383Asp) | |
11 | g.68157955T>C | CA475514725 | KMT5B | c.2178A>G (p.Glu726=) n.2743A>G c.*2015A>G (n.*2015A>G) c.*2058A>G (n.*2058A>G) c.1875A>G (p.Glu625=) c.*1599A>G (n.*1599A>G) c.2391A>G (p.Glu797=) c.1671A>G (p.Glu557=) c.2322A>G (p.Glu774=) c.1149A>G (p.Glu383=) | |
11 | g.68157955T>G | CA381587495 | KMT5B | c.2178A>C (p.Glu726Asp) n.2743A>C c.*2015A>C (n.*2015A>C) c.*2058A>C (n.*2058A>C) c.1875A>C (p.Glu625Asp) c.*1599A>C (n.*1599A>C) c.2391A>C (p.Glu797Asp) c.1671A>C (p.Glu557Asp) c.2322A>C (p.Glu774Asp) c.1149A>C (p.Glu383Asp) | |
11 | g.68157956T>A | CA381587502 | KMT5B | c.2177A>T (p.Glu726Val) n.2742A>T c.*2014A>T (n.*2014A>T) c.*2057A>T (n.*2057A>T) c.1874A>T (p.Glu625Val) c.*1598A>T (n.*1598A>T) c.2390A>T (p.Glu797Val) c.1670A>T (p.Glu557Val) c.2321A>T (p.Glu774Val) c.1148A>T (p.Glu383Val) | |
11 | g.68157956T>C | CA381587500 | KMT5B | c.2177A>G (p.Glu726Gly) n.2742A>G c.*2014A>G (n.*2014A>G) c.*2057A>G (n.*2057A>G) c.1874A>G (p.Glu625Gly) c.*1598A>G (n.*1598A>G) c.2390A>G (p.Glu797Gly) c.1670A>G (p.Glu557Gly) c.2321A>G (p.Glu774Gly) c.1148A>G (p.Glu383Gly) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68157956T>G | CA381587501 | KMT5B | c.2177A>C (p.Glu726Ala) n.2742A>C c.*2014A>C (n.*2014A>C) c.*2057A>C (n.*2057A>C) c.1874A>C (p.Glu625Ala) c.*1598A>C (n.*1598A>C) c.2390A>C (p.Glu797Ala) c.1670A>C (p.Glu557Ala) c.2321A>C (p.Glu774Ala) c.1148A>C (p.Glu383Ala) | |
11 | g.68157956T= | CA1980500313 | KMT5B | c.2177A= (p.Glu726=) n.2742A= c.*2014A= (n.*2014A=) c.*2057A= (n.*2057A=) c.1874A= (p.Glu625=) c.*1598A= (n.*1598A=) c.2390A= (p.Glu797=) c.1670A= (p.Glu557=) c.2321A= (p.Glu774=) c.1148A= (p.Glu383=) | |
11 | g.68157957C>A | CA381587503 | KMT5B | c.2176G>T (p.Glu726Ter) n.2741G>T c.*2013G>T (n.*2013G>T) c.*2056G>T (n.*2056G>T) c.1873G>T (p.Glu625Ter) c.*1597G>T (n.*1597G>T) c.2389G>T (p.Glu797Ter) c.1669G>T (p.Glu557Ter) c.2320G>T (p.Glu774Ter) c.1147G>T (p.Glu383Ter) | |
11 | g.68157957C>G | CA381587504 | KMT5B | c.2176G>C (p.Glu726Gln) n.2741G>C c.*2013G>C (n.*2013G>C) c.*2056G>C (n.*2056G>C) c.1873G>C (p.Glu625Gln) c.*1597G>C (n.*1597G>C) c.2389G>C (p.Glu797Gln) c.1669G>C (p.Glu557Gln) c.2320G>C (p.Glu774Gln) c.1147G>C (p.Glu383Gln) | |
11 | g.68157957C>T | CA381587505 | KMT5B | c.2176G>A (p.Glu726Lys) n.2741G>A c.*2013G>A (n.*2013G>A) c.*2056G>A (n.*2056G>A) c.1873G>A (p.Glu625Lys) c.*1597G>A (n.*1597G>A) c.2389G>A (p.Glu797Lys) c.1669G>A (p.Glu557Lys) c.2320G>A (p.Glu774Lys) c.1147G>A (p.Glu383Lys) | |
11 | g.68157958A>C | CA381587509 | KMT5B | c.2175T>G (p.His725Gln) n.2740T>G c.*2012T>G (n.*2012T>G) c.*2055T>G (n.*2055T>G) c.1872T>G (p.His624Gln) c.*1596T>G (n.*1596T>G) c.2388T>G (p.His796Gln) c.1668T>G (p.His556Gln) c.2319T>G (p.His773Gln) c.1146T>G (p.His382Gln) | |
11 | g.68157958A>G | CA475514726 | KMT5B | c.2175T>C (p.His725=) n.2740T>C c.*2012T>C (n.*2012T>C) c.*2055T>C (n.*2055T>C) c.1872T>C (p.His624=) c.*1596T>C (n.*1596T>C) c.2388T>C (p.His796=) c.1668T>C (p.His556=) c.2319T>C (p.His773=) c.1146T>C (p.His382=) | |
11 | g.68157958A>T | CA381587511 | KMT5B | c.2175T>A (p.His725Gln) n.2740T>A c.*2012T>A (n.*2012T>A) c.*2055T>A (n.*2055T>A) c.1872T>A (p.His624Gln) c.*1596T>A (n.*1596T>A) c.2388T>A (p.His796Gln) c.1668T>A (p.His556Gln) c.2319T>A (p.His773Gln) c.1146T>A (p.His382Gln) | |
11 | g.68157959T>A | CA381587524 | KMT5B | c.2174A>T (p.His725Leu) n.2739A>T c.*2011A>T (n.*2011A>T) c.*2054A>T (n.*2054A>T) c.1871A>T (p.His624Leu) c.*1595A>T (n.*1595A>T) c.2387A>T (p.His796Leu) c.1667A>T (p.His556Leu) c.2318A>T (p.His773Leu) c.1145A>T (p.His382Leu) | |
11 | g.68157959T>C | CA381587520 | KMT5B | c.2174A>G (p.His725Arg) n.2739A>G c.*2011A>G (n.*2011A>G) c.*2054A>G (n.*2054A>G) c.1871A>G (p.His624Arg) c.*1595A>G (n.*1595A>G) c.2387A>G (p.His796Arg) c.1667A>G (p.His556Arg) c.2318A>G (p.His773Arg) c.1145A>G (p.His382Arg) | gnomAD v4 |
11 | g.68157959T>G | CA381587514 | KMT5B | c.2174A>C (p.His725Pro) n.2739A>C c.*2011A>C (n.*2011A>C) c.*2054A>C (n.*2054A>C) c.1871A>C (p.His624Pro) c.*1595A>C (n.*1595A>C) c.2387A>C (p.His796Pro) c.1667A>C (p.His556Pro) c.2318A>C (p.His773Pro) c.1145A>C (p.His382Pro) | |
11 | g.68157960G>A | CA381587536 | KMT5B | c.2173C>T (p.His725Tyr) n.2738C>T c.*2010C>T (n.*2010C>T) c.*2053C>T (n.*2053C>T) c.1870C>T (p.His624Tyr) c.*1594C>T (n.*1594C>T) c.2386C>T (p.His796Tyr) c.1666C>T (p.His556Tyr) c.2317C>T (p.His773Tyr) c.1144C>T (p.His382Tyr) | COSMIC COSMIC |
11 | g.68157960G>C | CA381587537 | KMT5B | c.2173C>G (p.His725Asp) n.2738C>G c.*2010C>G (n.*2010C>G) c.*2053C>G (n.*2053C>G) c.1870C>G (p.His624Asp) c.*1594C>G (n.*1594C>G) c.2386C>G (p.His796Asp) c.1666C>G (p.His556Asp) c.2317C>G (p.His773Asp) c.1144C>G (p.His382Asp) | |
11 | g.68157960G>T | CA381587538 | KMT5B | c.2173C>A (p.His725Asn) n.2738C>A c.*2010C>A (n.*2010C>A) c.*2053C>A (n.*2053C>A) c.1870C>A (p.His624Asn) c.*1594C>A (n.*1594C>A) c.2386C>A (p.His796Asn) c.1666C>A (p.His556Asn) c.2317C>A (p.His773Asn) c.1144C>A (p.His382Asn) | |
11 | g.68157961A>C | CA475514727 | KMT5B | c.2172T>G (p.Leu724=) n.2737T>G c.*2009T>G (n.*2009T>G) c.*2052T>G (n.*2052T>G) c.1869T>G (p.Leu623=) c.*1593T>G (n.*1593T>G) c.2385T>G (p.Leu795=) c.1665T>G (p.Leu555=) c.2316T>G (p.Leu772=) c.1143T>G (p.Leu381=) | |
11 | g.68157961A>G | CA475514728 | KMT5B | c.2172T>C (p.Leu724=) n.2737T>C c.*2009T>C (n.*2009T>C) c.*2052T>C (n.*2052T>C) c.1869T>C (p.Leu623=) c.*1593T>C (n.*1593T>C) c.2385T>C (p.Leu795=) c.1665T>C (p.Leu555=) c.2316T>C (p.Leu772=) c.1143T>C (p.Leu381=) | |
11 | g.68157961A>T | CA475514729 | KMT5B | c.2172T>A (p.Leu724=) n.2737T>A c.*2009T>A (n.*2009T>A) c.*2052T>A (n.*2052T>A) c.1869T>A (p.Leu623=) c.*1593T>A (n.*1593T>A) c.2385T>A (p.Leu795=) c.1665T>A (p.Leu555=) c.2316T>A (p.Leu772=) c.1143T>A (p.Leu381=) | |
11 | g.68157962A= | CA1980500317 | KMT5B | c.2171T= (p.Leu724=) n.2736T= c.*2008T= (n.*2008T=) c.*2051T= (n.*2051T=) c.1868T= (p.Leu623=) c.*1592T= (n.*1592T=) c.2384T= (p.Leu795=) c.1664T= (p.Leu555=) c.2315T= (p.Leu772=) c.1142T= (p.Leu381=) | |
11 | g.68157962A>C | CA381587539 | KMT5B | c.2171T>G (p.Leu724Arg) n.2736T>G c.*2008T>G (n.*2008T>G) c.*2051T>G (n.*2051T>G) c.1868T>G (p.Leu623Arg) c.*1592T>G (n.*1592T>G) c.2384T>G (p.Leu795Arg) c.1664T>G (p.Leu555Arg) c.2315T>G (p.Leu772Arg) c.1142T>G (p.Leu381Arg) | |
11 | g.68157962A>G | CA381587542 | KMT5B | c.2171T>C (p.Leu724Pro) n.2736T>C c.*2008T>C (n.*2008T>C) c.*2051T>C (n.*2051T>C) c.1868T>C (p.Leu623Pro) c.*1592T>C (n.*1592T>C) c.2384T>C (p.Leu795Pro) c.1664T>C (p.Leu555Pro) c.2315T>C (p.Leu772Pro) c.1142T>C (p.Leu381Pro) | dbSNP |
11 | g.68157962A>T | CA381587547 | KMT5B | c.2171T>A (p.Leu724His) n.2736T>A c.*2008T>A (n.*2008T>A) c.*2051T>A (n.*2051T>A) c.1868T>A (p.Leu623His) c.*1592T>A (n.*1592T>A) c.2384T>A (p.Leu795His) c.1664T>A (p.Leu555His) c.2315T>A (p.Leu772His) c.1142T>A (p.Leu381His) | gnomAD v4 |
11 | g.68157963G>A | CA381587549 | KMT5B | c.2170C>T (p.Leu724Phe) n.2735C>T c.*2007C>T (n.*2007C>T) c.*2050C>T (n.*2050C>T) c.1867C>T (p.Leu623Phe) c.*1591C>T (n.*1591C>T) c.2383C>T (p.Leu795Phe) c.1663C>T (p.Leu555Phe) c.2314C>T (p.Leu772Phe) c.1141C>T (p.Leu381Phe) | |
11 | g.68157963G>C | CA381587551 | KMT5B | c.2170C>G (p.Leu724Val) n.2735C>G c.*2007C>G (n.*2007C>G) c.*2050C>G (n.*2050C>G) c.1867C>G (p.Leu623Val) c.*1591C>G (n.*1591C>G) c.2383C>G (p.Leu795Val) c.1663C>G (p.Leu555Val) c.2314C>G (p.Leu772Val) c.1141C>G (p.Leu381Val) | |
11 | g.68157963G= | CA1980500323 | KMT5B | c.2170C= (p.Leu724=) n.2735C= c.*2007C= (n.*2007C=) c.*2050C= (n.*2050C=) c.1867C= (p.Leu623=) c.*1591C= (n.*1591C=) c.2383C= (p.Leu795=) c.1663C= (p.Leu555=) c.2314C= (p.Leu772=) c.1141C= (p.Leu381=) | |
11 | g.68157963G>T | CA6148017 | KMT5B | c.2170C>A (p.Leu724Ile) n.2735C>A c.*2007C>A (n.*2007C>A) c.*2050C>A (n.*2050C>A) c.1867C>A (p.Leu623Ile) c.*1591C>A (n.*1591C>A) c.2383C>A (p.Leu795Ile) c.1663C>A (p.Leu555Ile) c.2314C>A (p.Leu772Ile) c.1141C>A (p.Leu381Ile) | ClinVar dbSNP ExAC gnomAD v2 |
11 | g.68157964C>A | CA475514732 | KMT5B | c.2169G>T (p.Gly723=) n.2734G>T c.*2006G>T (n.*2006G>T) c.*2049G>T (n.*2049G>T) c.1866G>T (p.Gly622=) c.*1590G>T (n.*1590G>T) c.2382G>T (p.Gly794=) c.1662G>T (p.Gly554=) c.2313G>T (p.Gly771=) c.1140G>T (p.Gly380=) | |
11 | g.68157964C>G | CA475514731 | KMT5B | c.2169G>C (p.Gly723=) n.2734G>C c.*2006G>C (n.*2006G>C) c.*2049G>C (n.*2049G>C) c.1866G>C (p.Gly622=) c.*1590G>C (n.*1590G>C) c.2382G>C (p.Gly794=) c.1662G>C (p.Gly554=) c.2313G>C (p.Gly771=) c.1140G>C (p.Gly380=) | |
11 | g.68157964C>T | CA475514730 | KMT5B | c.2169G>A (p.Gly723=) n.2734G>A c.*2006G>A (n.*2006G>A) c.*2049G>A (n.*2049G>A) c.1866G>A (p.Gly622=) c.*1590G>A (n.*1590G>A) c.2382G>A (p.Gly794=) c.1662G>A (p.Gly554=) c.2313G>A (p.Gly771=) c.1140G>A (p.Gly380=) | |
11 | g.68157965C>A | CA381587553 | KMT5B | c.2168G>T (p.Gly723Val) n.2733G>T c.*2005G>T (n.*2005G>T) c.*2048G>T (n.*2048G>T) c.1865G>T (p.Gly622Val) c.*1589G>T (n.*1589G>T) c.2381G>T (p.Gly794Val) c.1661G>T (p.Gly554Val) c.2312G>T (p.Gly771Val) c.1139G>T (p.Gly380Val) | |
11 | g.68157965C>G | CA381587558 | KMT5B | c.2168G>C (p.Gly723Ala) n.2733G>C c.*2005G>C (n.*2005G>C) c.*2048G>C (n.*2048G>C) c.1865G>C (p.Gly622Ala) c.*1589G>C (n.*1589G>C) c.2381G>C (p.Gly794Ala) c.1661G>C (p.Gly554Ala) c.2312G>C (p.Gly771Ala) c.1139G>C (p.Gly380Ala) | |
11 | g.68157965C>T | CA381587562 | KMT5B | c.2168G>A (p.Gly723Glu) n.2733G>A c.*2005G>A (n.*2005G>A) c.*2048G>A (n.*2048G>A) c.1865G>A (p.Gly622Glu) c.*1589G>A (n.*1589G>A) c.2381G>A (p.Gly794Glu) c.1661G>A (p.Gly554Glu) c.2312G>A (p.Gly771Glu) c.1139G>A (p.Gly380Glu) | gnomAD v4 |
11 | g.68157966C>A | CA381587567 | KMT5B | c.2167G>T (p.Gly723Trp) n.2732G>T c.*2004G>T (n.*2004G>T) c.*2047G>T (n.*2047G>T) c.1864G>T (p.Gly622Trp) c.*1588G>T (n.*1588G>T) c.2380G>T (p.Gly794Trp) c.1660G>T (p.Gly554Trp) c.2311G>T (p.Gly771Trp) c.1138G>T (p.Gly380Trp) | |
11 | g.68157966C= | CA1980500328 | KMT5B | c.2167G= (p.Gly723=) n.2732G= c.*2004G= (n.*2004G=) c.*2047G= (n.*2047G=) c.1864G= (p.Gly622=) c.*1588G= (n.*1588G=) c.2380G= (p.Gly794=) c.1660G= (p.Gly554=) c.2311G= (p.Gly771=) c.1138G= (p.Gly380=) | |
11 | g.68157966C>G | CA381587580 | KMT5B | c.2167G>C (p.Gly723Arg) n.2732G>C c.*2004G>C (n.*2004G>C) c.*2047G>C (n.*2047G>C) c.1864G>C (p.Gly622Arg) c.*1588G>C (n.*1588G>C) c.2380G>C (p.Gly794Arg) c.1660G>C (p.Gly554Arg) c.2311G>C (p.Gly771Arg) c.1138G>C (p.Gly380Arg) | |
11 | g.68157966C>T | CA381587582 | KMT5B | c.2167G>A (p.Gly723Arg) n.2732G>A c.*2004G>A (n.*2004G>A) c.*2047G>A (n.*2047G>A) c.1864G>A (p.Gly622Arg) c.*1588G>A (n.*1588G>A) c.2380G>A (p.Gly794Arg) c.1660G>A (p.Gly554Arg) c.2311G>A (p.Gly771Arg) c.1138G>A (p.Gly380Arg) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68157967C>A | CA381587584 | KMT5B | c.2166G>T (p.Glu722Asp) n.2731G>T c.*2003G>T (n.*2003G>T) c.*2046G>T (n.*2046G>T) c.1863G>T (p.Glu621Asp) c.*1587G>T (n.*1587G>T) c.2379G>T (p.Glu793Asp) c.1659G>T (p.Glu553Asp) c.2310G>T (p.Glu770Asp) c.1137G>T (p.Glu379Asp) | |
11 | g.68157967C>G | CA381587586 | KMT5B | c.2166G>C (p.Glu722Asp) n.2731G>C c.*2003G>C (n.*2003G>C) c.*2046G>C (n.*2046G>C) c.1863G>C (p.Glu621Asp) c.*1587G>C (n.*1587G>C) c.2379G>C (p.Glu793Asp) c.1659G>C (p.Glu553Asp) c.2310G>C (p.Glu770Asp) c.1137G>C (p.Glu379Asp) | |
11 | g.68157967C>T | CA475514733 | KMT5B | c.2166G>A (p.Glu722=) n.2731G>A c.*2003G>A (n.*2003G>A) c.*2046G>A (n.*2046G>A) c.1863G>A (p.Glu621=) c.*1587G>A (n.*1587G>A) c.2379G>A (p.Glu793=) c.1659G>A (p.Glu553=) c.2310G>A (p.Glu770=) c.1137G>A (p.Glu379=) | |
11 | g.68157968T>A | CA381587590 | KMT5B | c.2165A>T (p.Glu722Val) n.2730A>T c.*2002A>T (n.*2002A>T) c.*2045A>T (n.*2045A>T) c.1862A>T (p.Glu621Val) c.*1586A>T (n.*1586A>T) c.2378A>T (p.Glu793Val) c.1658A>T (p.Glu553Val) c.2309A>T (p.Glu770Val) c.1136A>T (p.Glu379Val) | |
11 | g.68157968T>C | CA381587594 | KMT5B | c.2165A>G (p.Glu722Gly) n.2730A>G c.*2002A>G (n.*2002A>G) c.*2045A>G (n.*2045A>G) c.1862A>G (p.Glu621Gly) c.*1586A>G (n.*1586A>G) c.2378A>G (p.Glu793Gly) c.1658A>G (p.Glu553Gly) c.2309A>G (p.Glu770Gly) c.1136A>G (p.Glu379Gly) | |
11 | g.68157968T>G | CA381587597 | KMT5B | c.2165A>C (p.Glu722Ala) n.2730A>C c.*2002A>C (n.*2002A>C) c.*2045A>C (n.*2045A>C) c.1862A>C (p.Glu621Ala) c.*1586A>C (n.*1586A>C) c.2378A>C (p.Glu793Ala) c.1658A>C (p.Glu553Ala) c.2309A>C (p.Glu770Ala) c.1136A>C (p.Glu379Ala) | |
11 | g.68157969C>A | CA381587600 | KMT5B | c.2164G>T (p.Glu722Ter) n.2729G>T c.*2001G>T (n.*2001G>T) c.*2044G>T (n.*2044G>T) c.1861G>T (p.Glu621Ter) c.*1585G>T (n.*1585G>T) c.2377G>T (p.Glu793Ter) c.1657G>T (p.Glu553Ter) c.2308G>T (p.Glu770Ter) c.1135G>T (p.Glu379Ter) | |
11 | g.68157969C= | CA1980500343 | KMT5B | c.2164G= (p.Glu722=) n.2729G= c.*2001G= (n.*2001G=) c.*2044G= (n.*2044G=) c.1861G= (p.Glu621=) c.*1585G= (n.*1585G=) c.2377G= (p.Glu793=) c.1657G= (p.Glu553=) c.2308G= (p.Glu770=) c.1135G= (p.Glu379=) | |
11 | g.68157969C>G | CA381587606 | KMT5B | c.2164G>C (p.Glu722Gln) n.2729G>C c.*2001G>C (n.*2001G>C) c.*2044G>C (n.*2044G>C) c.1861G>C (p.Glu621Gln) c.*1585G>C (n.*1585G>C) c.2377G>C (p.Glu793Gln) c.1657G>C (p.Glu553Gln) c.2308G>C (p.Glu770Gln) c.1135G>C (p.Glu379Gln) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68157969C>T | CA381587603 | KMT5B | c.2164G>A (p.Glu722Lys) n.2729G>A c.*2001G>A (n.*2001G>A) c.*2044G>A (n.*2044G>A) c.1861G>A (p.Glu621Lys) c.*1585G>A (n.*1585G>A) c.2377G>A (p.Glu793Lys) c.1657G>A (p.Glu553Lys) c.2308G>A (p.Glu770Lys) c.1135G>A (p.Glu379Lys) | |
11 | g.68157970T>A | CA475514734 | KMT5B | c.2163A>T (p.Thr721=) n.2728A>T c.*2000A>T (n.*2000A>T) c.*2043A>T (n.*2043A>T) c.1860A>T (p.Thr620=) c.*1584A>T (n.*1584A>T) c.2376A>T (p.Thr792=) c.1656A>T (p.Thr552=) c.2307A>T (p.Thr769=) c.1134A>T (p.Thr378=) | |
11 | g.68157970T>C | CA6148018 | KMT5B | c.2163A>G (p.Thr721=) n.2728A>G c.*2000A>G (n.*2000A>G) c.*2043A>G (n.*2043A>G) c.1860A>G (p.Thr620=) c.*1584A>G (n.*1584A>G) c.2376A>G (p.Thr792=) c.1656A>G (p.Thr552=) c.2307A>G (p.Thr769=) c.1134A>G (p.Thr378=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68157970T>G | CA475514735 | KMT5B | c.2163A>C (p.Thr721=) n.2728A>C c.*2000A>C (n.*2000A>C) c.*2043A>C (n.*2043A>C) c.1860A>C (p.Thr620=) c.*1584A>C (n.*1584A>C) c.2376A>C (p.Thr792=) c.1656A>C (p.Thr552=) c.2307A>C (p.Thr769=) c.1134A>C (p.Thr378=) | gnomAD v4 |
11 | g.68157970T= | CA1980500344 | KMT5B | c.2163A= (p.Thr721=) n.2728A= c.*2000A= (n.*2000A=) c.*2043A= (n.*2043A=) c.1860A= (p.Thr620=) c.*1584A= (n.*1584A=) c.2376A= (p.Thr792=) c.1656A= (p.Thr552=) c.2307A= (p.Thr769=) c.1134A= (p.Thr378=) | |
11 | g.68157971G>A | CA381587615 | KMT5B | c.2162C>T (p.Thr721Ile) n.2727C>T c.*1999C>T (n.*1999C>T) c.*2042C>T (n.*2042C>T) c.1859C>T (p.Thr620Ile) c.*1583C>T (n.*1583C>T) c.2375C>T (p.Thr792Ile) c.1655C>T (p.Thr552Ile) c.2306C>T (p.Thr769Ile) c.1133C>T (p.Thr378Ile) | |
11 | g.68157971G>C | CA381587609 | KMT5B | c.2162C>G (p.Thr721Arg) n.2727C>G c.*1999C>G (n.*1999C>G) c.*2042C>G (n.*2042C>G) c.1859C>G (p.Thr620Arg) c.*1583C>G (n.*1583C>G) c.2375C>G (p.Thr792Arg) c.1655C>G (p.Thr552Arg) c.2306C>G (p.Thr769Arg) c.1133C>G (p.Thr378Arg) | |
11 | g.68157971G>T | CA381587612 | KMT5B | c.2162C>A (p.Thr721Lys) n.2727C>A c.*1999C>A (n.*1999C>A) c.*2042C>A (n.*2042C>A) c.1859C>A (p.Thr620Lys) c.*1583C>A (n.*1583C>A) c.2375C>A (p.Thr792Lys) c.1655C>A (p.Thr552Lys) c.2306C>A (p.Thr769Lys) c.1133C>A (p.Thr378Lys) | |
11 | g.68157972T>A | CA381587619 | KMT5B | c.2161A>T (p.Thr721Ser) n.2726A>T c.*1998A>T (n.*1998A>T) c.*2041A>T (n.*2041A>T) c.1858A>T (p.Thr620Ser) c.*1582A>T (n.*1582A>T) c.2374A>T (p.Thr792Ser) c.1654A>T (p.Thr552Ser) c.2305A>T (p.Thr769Ser) c.1132A>T (p.Thr378Ser) | |
11 | g.68157972T>C | CA381587621 | KMT5B | c.2161A>G (p.Thr721Ala) n.2726A>G c.*1998A>G (n.*1998A>G) c.*2041A>G (n.*2041A>G) c.1858A>G (p.Thr620Ala) c.*1582A>G (n.*1582A>G) c.2374A>G (p.Thr792Ala) c.1654A>G (p.Thr552Ala) c.2305A>G (p.Thr769Ala) c.1132A>G (p.Thr378Ala) | |
11 | g.68157972T>G | CA381587623 | KMT5B | c.2161A>C (p.Thr721Pro) n.2726A>C c.*1998A>C (n.*1998A>C) c.*2041A>C (n.*2041A>C) c.1858A>C (p.Thr620Pro) c.*1582A>C (n.*1582A>C) c.2374A>C (p.Thr792Pro) c.1654A>C (p.Thr552Pro) c.2305A>C (p.Thr769Pro) c.1132A>C (p.Thr378Pro) | |
11 | g.68157973A= | CA1980500347 | KMT5B | c.2160T= (p.Tyr720=) n.2725T= c.*1997T= (n.*1997T=) c.*2040T= (n.*2040T=) c.1857T= (p.Tyr619=) c.*1581T= (n.*1581T=) c.2373T= (p.Tyr791=) c.1653T= (p.Tyr551=) c.2304T= (p.Tyr768=) c.1131T= (p.Tyr377=) | |
11 | g.68157973A>C | CA381587625 | KMT5B | c.2160T>G (p.Tyr720Ter) n.2725T>G c.*1997T>G (n.*1997T>G) c.*2040T>G (n.*2040T>G) c.1857T>G (p.Tyr619Ter) c.*1581T>G (n.*1581T>G) c.2373T>G (p.Tyr791Ter) c.1653T>G (p.Tyr551Ter) c.2304T>G (p.Tyr768Ter) c.1131T>G (p.Tyr377Ter) | |
11 | g.68157973A>G | CA6148019 | KMT5B | c.2160T>C (p.Tyr720=) n.2725T>C c.*1997T>C (n.*1997T>C) c.*2040T>C (n.*2040T>C) c.1857T>C (p.Tyr619=) c.*1581T>C (n.*1581T>C) c.2373T>C (p.Tyr791=) c.1653T>C (p.Tyr551=) c.2304T>C (p.Tyr768=) c.1131T>C (p.Tyr377=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68157973A>T | CA381587630 | KMT5B | c.2160T>A (p.Tyr720Ter) n.2725T>A c.*1997T>A (n.*1997T>A) c.*2040T>A (n.*2040T>A) c.1857T>A (p.Tyr619Ter) c.*1581T>A (n.*1581T>A) c.2373T>A (p.Tyr791Ter) c.1653T>A (p.Tyr551Ter) c.2304T>A (p.Tyr768Ter) c.1131T>A (p.Tyr377Ter) | |
11 | g.68157974T>A | CA381587634 | KMT5B | c.2159A>T (p.Tyr720Phe) n.2724A>T c.*1996A>T (n.*1996A>T) c.*2039A>T (n.*2039A>T) c.1856A>T (p.Tyr619Phe) c.*1580A>T (n.*1580A>T) c.2372A>T (p.Tyr791Phe) c.1652A>T (p.Tyr551Phe) c.2303A>T (p.Tyr768Phe) c.1130A>T (p.Tyr377Phe) | |
11 | g.68157974T>C | CA381587637 | KMT5B | c.2159A>G (p.Tyr720Cys) n.2724A>G c.*1996A>G (n.*1996A>G) c.*2039A>G (n.*2039A>G) c.1856A>G (p.Tyr619Cys) c.*1580A>G (n.*1580A>G) c.2372A>G (p.Tyr791Cys) c.1652A>G (p.Tyr551Cys) c.2303A>G (p.Tyr768Cys) c.1130A>G (p.Tyr377Cys) | |
11 | g.68157974T>G | CA381587639 | KMT5B | c.2159A>C (p.Tyr720Ser) n.2724A>C c.*1996A>C (n.*1996A>C) c.*2039A>C (n.*2039A>C) c.1856A>C (p.Tyr619Ser) c.*1580A>C (n.*1580A>C) c.2372A>C (p.Tyr791Ser) c.1652A>C (p.Tyr551Ser) c.2303A>C (p.Tyr768Ser) c.1130A>C (p.Tyr377Ser) | |
11 | g.68157975A>C | CA381587662 | KMT5B | c.2158T>G (p.Tyr720Asp) n.2723T>G c.*1995T>G (n.*1995T>G) c.*2038T>G (n.*2038T>G) c.1855T>G (p.Tyr619Asp) c.*1579T>G (n.*1579T>G) c.2371T>G (p.Tyr791Asp) c.1651T>G (p.Tyr551Asp) c.2302T>G (p.Tyr768Asp) c.1129T>G (p.Tyr377Asp) | |
11 | g.68157975A>G | CA381587657 | KMT5B | c.2158T>C (p.Tyr720His) n.2723T>C c.*1995T>C (n.*1995T>C) c.*2038T>C (n.*2038T>C) c.1855T>C (p.Tyr619His) c.*1579T>C (n.*1579T>C) c.2371T>C (p.Tyr791His) c.1651T>C (p.Tyr551His) c.2302T>C (p.Tyr768His) c.1129T>C (p.Tyr377His) | |
11 | g.68157975A>T | CA381587654 | KMT5B | c.2158T>A (p.Tyr720Asn) n.2723T>A c.*1995T>A (n.*1995T>A) c.*2038T>A (n.*2038T>A) c.1855T>A (p.Tyr619Asn) c.*1579T>A (n.*1579T>A) c.2371T>A (p.Tyr791Asn) c.1651T>A (p.Tyr551Asn) c.2302T>A (p.Tyr768Asn) c.1129T>A (p.Tyr377Asn) | |
11 | g.68157976A>C | CA475514736 | KMT5B | c.2157T>G (p.Ser719=) n.2722T>G c.*1994T>G (n.*1994T>G) c.*2037T>G (n.*2037T>G) c.1854T>G (p.Ser618=) c.*1578T>G (n.*1578T>G) c.2370T>G (p.Ser790=) c.1650T>G (p.Ser550=) c.2301T>G (p.Ser767=) c.1128T>G (p.Ser376=) | |
11 | g.68157976A>G | CA475514737 | KMT5B | c.2157T>C (p.Ser719=) n.2722T>C c.*1994T>C (n.*1994T>C) c.*2037T>C (n.*2037T>C) c.1854T>C (p.Ser618=) c.*1578T>C (n.*1578T>C) c.2370T>C (p.Ser790=) c.1650T>C (p.Ser550=) c.2301T>C (p.Ser767=) c.1128T>C (p.Ser376=) | |
11 | g.68157976A>T | CA475514738 | KMT5B | c.2157T>A (p.Ser719=) n.2722T>A c.*1994T>A (n.*1994T>A) c.*2037T>A (n.*2037T>A) c.1854T>A (p.Ser618=) c.*1578T>A (n.*1578T>A) c.2370T>A (p.Ser790=) c.1650T>A (p.Ser550=) c.2301T>A (p.Ser767=) c.1128T>A (p.Ser376=) | |
11 | g.68157977G>A | CA381587665 | KMT5B | c.2156C>T (p.Ser719Phe) n.2721C>T c.*1993C>T (n.*1993C>T) c.*2036C>T (n.*2036C>T) c.1853C>T (p.Ser618Phe) c.*1577C>T (n.*1577C>T) c.2369C>T (p.Ser790Phe) c.1649C>T (p.Ser550Phe) c.2300C>T (p.Ser767Phe) c.1127C>T (p.Ser376Phe) | gnomAD v4 COSMIC |
11 | g.68157977G>C | CA381587668 | KMT5B | c.2156C>G (p.Ser719Cys) n.2721C>G c.*1993C>G (n.*1993C>G) c.*2036C>G (n.*2036C>G) c.1853C>G (p.Ser618Cys) c.*1577C>G (n.*1577C>G) c.2369C>G (p.Ser790Cys) c.1649C>G (p.Ser550Cys) c.2300C>G (p.Ser767Cys) c.1127C>G (p.Ser376Cys) | |
11 | g.68157977G>T | CA381587669 | KMT5B | c.2156C>A (p.Ser719Tyr) n.2721C>A c.*1993C>A (n.*1993C>A) c.*2036C>A (n.*2036C>A) c.1853C>A (p.Ser618Tyr) c.*1577C>A (n.*1577C>A) c.2369C>A (p.Ser790Tyr) c.1649C>A (p.Ser550Tyr) c.2300C>A (p.Ser767Tyr) c.1127C>A (p.Ser376Tyr) | |
11 | g.68157978A= | CA1980500350 | KMT5B | c.2155T= (p.Ser719=) n.2720T= c.*1992T= (n.*1992T=) c.*2035T= (n.*2035T=) c.1852T= (p.Ser618=) c.*1576T= (n.*1576T=) c.2368T= (p.Ser790=) c.1648T= (p.Ser550=) c.2299T= (p.Ser767=) c.1126T= (p.Ser376=) | |
11 | g.68157978A>C | CA6148020 | KMT5B | c.2155T>G (p.Ser719Ala) n.2720T>G c.*1992T>G (n.*1992T>G) c.*2035T>G (n.*2035T>G) c.1852T>G (p.Ser618Ala) c.*1576T>G (n.*1576T>G) c.2368T>G (p.Ser790Ala) c.1648T>G (p.Ser550Ala) c.2299T>G (p.Ser767Ala) c.1126T>G (p.Ser376Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68157978A>G | CA381587676 | KMT5B | c.2155T>C (p.Ser719Pro) n.2720T>C c.*1992T>C (n.*1992T>C) c.*2035T>C (n.*2035T>C) c.1852T>C (p.Ser618Pro) c.*1576T>C (n.*1576T>C) c.2368T>C (p.Ser790Pro) c.1648T>C (p.Ser550Pro) c.2299T>C (p.Ser767Pro) c.1126T>C (p.Ser376Pro) | |
11 | g.68157978A>T | CA381587679 | KMT5B | c.2155T>A (p.Ser719Thr) n.2720T>A c.*1992T>A (n.*1992T>A) c.*2035T>A (n.*2035T>A) c.1852T>A (p.Ser618Thr) c.*1576T>A (n.*1576T>A) c.2368T>A (p.Ser790Thr) c.1648T>A (p.Ser550Thr) c.2299T>A (p.Ser767Thr) c.1126T>A (p.Ser376Thr) | |
11 | g.68157979C>A | CA475514739 | KMT5B | c.2154G>T (p.Gly718=) n.2719G>T c.*1991G>T (n.*1991G>T) c.*2034G>T (n.*2034G>T) c.1851G>T (p.Gly617=) c.*1575G>T (n.*1575G>T) c.2367G>T (p.Gly789=) c.1647G>T (p.Gly549=) c.2298G>T (p.Gly766=) c.1125G>T (p.Gly375=) | gnomAD v4 |
11 | g.68157979C>G | CA475514740 | KMT5B | c.2154G>C (p.Gly718=) n.2719G>C c.*1991G>C (n.*1991G>C) c.*2034G>C (n.*2034G>C) c.1851G>C (p.Gly617=) c.*1575G>C (n.*1575G>C) c.2367G>C (p.Gly789=) c.1647G>C (p.Gly549=) c.2298G>C (p.Gly766=) c.1125G>C (p.Gly375=) | |
11 | g.68157979C>T | CA475514741 | KMT5B | c.2154G>A (p.Gly718=) n.2719G>A c.*1991G>A (n.*1991G>A) c.*2034G>A (n.*2034G>A) c.1851G>A (p.Gly617=) c.*1575G>A (n.*1575G>A) c.2367G>A (p.Gly789=) c.1647G>A (p.Gly549=) c.2298G>A (p.Gly766=) c.1125G>A (p.Gly375=) | |
11 | g.68157980C>A | CA381587682 | KMT5B | c.2153G>T (p.Gly718Val) n.2718G>T c.*1990G>T (n.*1990G>T) c.*2033G>T (n.*2033G>T) c.1850G>T (p.Gly617Val) c.*1574G>T (n.*1574G>T) c.2366G>T (p.Gly789Val) c.1646G>T (p.Gly549Val) c.2297G>T (p.Gly766Val) c.1124G>T (p.Gly375Val) | |
11 | g.68157980C= | CA1980500353 | KMT5B | c.2153G= (p.Gly718=) n.2718G= c.*1990G= (n.*1990G=) c.*2033G= (n.*2033G=) c.1850G= (p.Gly617=) c.*1574G= (n.*1574G=) c.2366G= (p.Gly789=) c.1646G= (p.Gly549=) c.2297G= (p.Gly766=) c.1124G= (p.Gly375=) | |
11 | g.68157980C>G | CA381587685 | KMT5B | c.2153G>C (p.Gly718Ala) n.2718G>C c.*1990G>C (n.*1990G>C) c.*2033G>C (n.*2033G>C) c.1850G>C (p.Gly617Ala) c.*1574G>C (n.*1574G>C) c.2366G>C (p.Gly789Ala) c.1646G>C (p.Gly549Ala) c.2297G>C (p.Gly766Ala) c.1124G>C (p.Gly375Ala) | gnomAD v4 |
11 | g.68157980C>T | CA6148021 | KMT5B | c.2153G>A (p.Gly718Glu) n.2718G>A c.*1990G>A (n.*1990G>A) c.*2033G>A (n.*2033G>A) c.1850G>A (p.Gly617Glu) c.*1574G>A (n.*1574G>A) c.2366G>A (p.Gly789Glu) c.1646G>A (p.Gly549Glu) c.2297G>A (p.Gly766Glu) c.1124G>A (p.Gly375Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68157981C>A | CA381587695 | KMT5B | c.2152G>T (p.Gly718Trp) n.2717G>T c.*1989G>T (n.*1989G>T) c.*2032G>T (n.*2032G>T) c.1849G>T (p.Gly617Trp) c.*1573G>T (n.*1573G>T) c.2365G>T (p.Gly789Trp) c.1645G>T (p.Gly549Trp) c.2296G>T (p.Gly766Trp) c.1123G>T (p.Gly375Trp) | ClinVar |
11 | g.68157981C= | CA1980500362 | KMT5B | c.2152G= (p.Gly718=) n.2717G= c.*1989G= (n.*1989G=) c.*2032G= (n.*2032G=) c.1849G= (p.Gly617=) c.*1573G= (n.*1573G=) c.2365G= (p.Gly789=) c.1645G= (p.Gly549=) c.2296G= (p.Gly766=) c.1123G= (p.Gly375=) | |
11 | g.68157981C>G | CA381587700 | KMT5B | c.2152G>C (p.Gly718Arg) n.2717G>C c.*1989G>C (n.*1989G>C) c.*2032G>C (n.*2032G>C) c.1849G>C (p.Gly617Arg) c.*1573G>C (n.*1573G>C) c.2365G>C (p.Gly789Arg) c.1645G>C (p.Gly549Arg) c.2296G>C (p.Gly766Arg) c.1123G>C (p.Gly375Arg) | |
11 | g.68157981C>T | CA381587703 | KMT5B | c.2152G>A (p.Gly718Arg) n.2717G>A c.*1989G>A (n.*1989G>A) c.*2032G>A (n.*2032G>A) c.1849G>A (p.Gly617Arg) c.*1573G>A (n.*1573G>A) c.2365G>A (p.Gly789Arg) c.1645G>A (p.Gly549Arg) c.2296G>A (p.Gly766Arg) c.1123G>A (p.Gly375Arg) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68157981_68157984delinsCCCT | CA1980500358 | KMT5B | c.2149_2152delinsAGGG (p.Arg717=) n.2714_2717delinsAGGG c.*1986_*1989delinsAGGG (n.*1986_*1989delinsAGGG) c.*2029_*2032delinsAGGG (n.*2029_*2032delinsAGGG) c.1846_1849delinsAGGG (p.Arg616=) c.*1570_*1573delinsAGGG (n.*1570_*1573delinsAGGG) c.2362_2365delinsAGGG (p.Arg788=) c.1642_1645delinsAGGG (p.Arg548=) c.2293_2296delinsAGGG (p.Arg765=) c.1120_1123delinsAGGG (p.Arg374=) | |
11 | g.68157982C>A | CA381587712 | KMT5B | c.2151G>T (p.Arg717Ser) n.2716G>T c.*1988G>T (n.*1988G>T) c.*2031G>T (n.*2031G>T) c.1848G>T (p.Arg616Ser) c.*1572G>T (n.*1572G>T) c.2364G>T (p.Arg788Ser) c.1644G>T (p.Arg548Ser) c.2295G>T (p.Arg765Ser) c.1122G>T (p.Arg374Ser) | |
11 | g.68157982C>G | CA381587709 | KMT5B | c.2151G>C (p.Arg717Ser) n.2716G>C c.*1988G>C (n.*1988G>C) c.*2031G>C (n.*2031G>C) c.1848G>C (p.Arg616Ser) c.*1572G>C (n.*1572G>C) c.2364G>C (p.Arg788Ser) c.1644G>C (p.Arg548Ser) c.2295G>C (p.Arg765Ser) c.1122G>C (p.Arg374Ser) | |
11 | g.68157982C>T | CA475514742 | KMT5B | c.2151G>A (p.Arg717=) n.2716G>A c.*1988G>A (n.*1988G>A) c.*2031G>A (n.*2031G>A) c.1848G>A (p.Arg616=) c.*1572G>A (n.*1572G>A) c.2364G>A (p.Arg788=) c.1644G>A (p.Arg548=) c.2295G>A (p.Arg765=) c.1122G>A (p.Arg374=) | gnomAD v4 |
11 | g.68157982_68157984del | CA679570361 | KMT5B | c.2149_2151del (p.Arg717del) n.2714_2716del c.*1986_*1988del (n.*1986_*1988del) c.*2029_*2031del (n.*2029_*2031del) c.1846_1848del (p.Arg616del) c.*1570_*1572del (n.*1570_*1572del) c.2362_2364del (p.Arg788del) c.1642_1644del (p.Arg548del) c.2293_2295del (p.Arg765del) c.1120_1122del (p.Arg374del) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68157983C>A | CA381587716 | KMT5B | c.2150G>T (p.Arg717Met) n.2715G>T c.*1987G>T (n.*1987G>T) c.*2030G>T (n.*2030G>T) c.1847G>T (p.Arg616Met) c.*1571G>T (n.*1571G>T) c.2363G>T (p.Arg788Met) c.1643G>T (p.Arg548Met) c.2294G>T (p.Arg765Met) c.1121G>T (p.Arg374Met) | |
11 | g.68157983C>G | CA381587719 | KMT5B | c.2150G>C (p.Arg717Thr) n.2715G>C c.*1987G>C (n.*1987G>C) c.*2030G>C (n.*2030G>C) c.1847G>C (p.Arg616Thr) c.*1571G>C (n.*1571G>C) c.2363G>C (p.Arg788Thr) c.1643G>C (p.Arg548Thr) c.2294G>C (p.Arg765Thr) c.1121G>C (p.Arg374Thr) | |
11 | g.68157983C>T | CA381587727 | KMT5B | c.2150G>A (p.Arg717Lys) n.2715G>A c.*1987G>A (n.*1987G>A) c.*2030G>A (n.*2030G>A) c.1847G>A (p.Arg616Lys) c.*1571G>A (n.*1571G>A) c.2363G>A (p.Arg788Lys) c.1643G>A (p.Arg548Lys) c.2294G>A (p.Arg765Lys) c.1121G>A (p.Arg374Lys) | |
11 | g.68157984T>A | CA381587730 | KMT5B | c.2149A>T (p.Arg717Trp) n.2714A>T c.*1986A>T (n.*1986A>T) c.*2029A>T (n.*2029A>T) c.1846A>T (p.Arg616Trp) c.*1570A>T (n.*1570A>T) c.2362A>T (p.Arg788Trp) c.1642A>T (p.Arg548Trp) c.2293A>T (p.Arg765Trp) c.1120A>T (p.Arg374Trp) | |
11 | g.68157984T>C | CA381587732 | KMT5B | c.2149A>G (p.Arg717Gly) n.2714A>G c.*1986A>G (n.*1986A>G) c.*2029A>G (n.*2029A>G) c.1846A>G (p.Arg616Gly) c.*1570A>G (n.*1570A>G) c.2362A>G (p.Arg788Gly) c.1642A>G (p.Arg548Gly) c.2293A>G (p.Arg765Gly) c.1120A>G (p.Arg374Gly) | gnomAD v4 |
11 | g.68157984T>G | CA475514743 | KMT5B | c.2149A>C (p.Arg717=) n.2714A>C c.*1986A>C (n.*1986A>C) c.*2029A>C (n.*2029A>C) c.1846A>C (p.Arg616=) c.*1570A>C (n.*1570A>C) c.2362A>C (p.Arg788=) c.1642A>C (p.Arg548=) c.2293A>C (p.Arg765=) c.1120A>C (p.Arg374=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68157984T= | CA1980500371 | KMT5B | c.2149A= (p.Arg717=) n.2714A= c.*1986A= (n.*1986A=) c.*2029A= (n.*2029A=) c.1846A= (p.Arg616=) c.*1570A= (n.*1570A=) c.2362A= (p.Arg788=) c.1642A= (p.Arg548=) c.2293A= (p.Arg765=) c.1120A= (p.Arg374=) | |
11 | g.68157985A>C | CA381587734 | KMT5B | c.2148T>G (p.Asn716Lys) n.2713T>G c.*1985T>G (n.*1985T>G) c.*2028T>G (n.*2028T>G) c.1845T>G (p.Asn615Lys) c.*1569T>G (n.*1569T>G) c.2361T>G (p.Asn787Lys) c.1641T>G (p.Asn547Lys) c.2292T>G (p.Asn764Lys) c.1119T>G (p.Asn373Lys) | |
11 | g.68157985A>G | CA475514744 | KMT5B | c.2148T>C (p.Asn716=) n.2713T>C c.*1985T>C (n.*1985T>C) c.*2028T>C (n.*2028T>C) c.1845T>C (p.Asn615=) c.*1569T>C (n.*1569T>C) c.2361T>C (p.Asn787=) c.1641T>C (p.Asn547=) c.2292T>C (p.Asn764=) c.1119T>C (p.Asn373=) | |
11 | g.68157985A>T | CA381587747 | KMT5B | c.2148T>A (p.Asn716Lys) n.2713T>A c.*1985T>A (n.*1985T>A) c.*2028T>A (n.*2028T>A) c.1845T>A (p.Asn615Lys) c.*1569T>A (n.*1569T>A) c.2361T>A (p.Asn787Lys) c.1641T>A (p.Asn547Lys) c.2292T>A (p.Asn764Lys) c.1119T>A (p.Asn373Lys) | |
11 | g.68157986T>A | CA381587751 | KMT5B | c.2147A>T (p.Asn716Ile) n.2712A>T c.*1984A>T (n.*1984A>T) c.*2027A>T (n.*2027A>T) c.1844A>T (p.Asn615Ile) c.*1568A>T (n.*1568A>T) c.2360A>T (p.Asn787Ile) c.1640A>T (p.Asn547Ile) c.2291A>T (p.Asn764Ile) c.1118A>T (p.Asn373Ile) | |
11 | g.68157986T>C | CA381587754 | KMT5B | c.2147A>G (p.Asn716Ser) n.2712A>G c.*1984A>G (n.*1984A>G) c.*2027A>G (n.*2027A>G) c.1844A>G (p.Asn615Ser) c.*1568A>G (n.*1568A>G) c.2360A>G (p.Asn787Ser) c.1640A>G (p.Asn547Ser) c.2291A>G (p.Asn764Ser) c.1118A>G (p.Asn373Ser) | |
11 | g.68157986T>G | CA381587766 | KMT5B | c.2147A>C (p.Asn716Thr) n.2712A>C c.*1984A>C (n.*1984A>C) c.*2027A>C (n.*2027A>C) c.1844A>C (p.Asn615Thr) c.*1568A>C (n.*1568A>C) c.2360A>C (p.Asn787Thr) c.1640A>C (p.Asn547Thr) c.2291A>C (p.Asn764Thr) c.1118A>C (p.Asn373Thr) | |
11 | g.68157987T>A | CA381587767 | KMT5B | c.2146A>T (p.Asn716Tyr) n.2711A>T c.*1983A>T (n.*1983A>T) c.*2026A>T (n.*2026A>T) c.1843A>T (p.Asn615Tyr) c.*1567A>T (n.*1567A>T) c.2359A>T (p.Asn787Tyr) c.1639A>T (p.Asn547Tyr) c.2290A>T (p.Asn764Tyr) c.1117A>T (p.Asn373Tyr) | |
11 | g.68157987T>C | CA381587768 | KMT5B | c.2146A>G (p.Asn716Asp) n.2711A>G c.*1983A>G (n.*1983A>G) c.*2026A>G (n.*2026A>G) c.1843A>G (p.Asn615Asp) c.*1567A>G (n.*1567A>G) c.2359A>G (p.Asn787Asp) c.1639A>G (p.Asn547Asp) c.2290A>G (p.Asn764Asp) c.1117A>G (p.Asn373Asp) | dbSNP gnomAD v4 |
11 | g.68157987T>G | CA381587769 | KMT5B | c.2146A>C (p.Asn716His) n.2711A>C c.*1983A>C (n.*1983A>C) c.*2026A>C (n.*2026A>C) c.1843A>C (p.Asn615His) c.*1567A>C (n.*1567A>C) c.2359A>C (p.Asn787His) c.1639A>C (p.Asn547His) c.2290A>C (p.Asn764His) c.1117A>C (p.Asn373His) | |
11 | g.68157987T= | CA1980500373 | KMT5B | c.2146A= (p.Asn716=) n.2711A= c.*1983A= (n.*1983A=) c.*2026A= (n.*2026A=) c.1843A= (p.Asn615=) c.*1567A= (n.*1567A=) c.2359A= (p.Asn787=) c.1639A= (p.Asn547=) c.2290A= (p.Asn764=) c.1117A= (p.Asn373=) | |
11 | g.68157988T>A | CA381587778 | KMT5B | c.2145A>T (p.Glu715Asp) n.2710A>T c.*1982A>T (n.*1982A>T) c.*2025A>T (n.*2025A>T) c.1842A>T (p.Glu614Asp) c.*1566A>T (n.*1566A>T) c.2358A>T (p.Glu786Asp) c.1638A>T (p.Glu546Asp) c.2289A>T (p.Glu763Asp) c.1116A>T (p.Glu372Asp) | |
11 | g.68157988T>C | CA475514745 | KMT5B | c.2145A>G (p.Glu715=) n.2710A>G c.*1982A>G (n.*1982A>G) c.*2025A>G (n.*2025A>G) c.1842A>G (p.Glu614=) c.*1566A>G (n.*1566A>G) c.2358A>G (p.Glu786=) c.1638A>G (p.Glu546=) c.2289A>G (p.Glu763=) c.1116A>G (p.Glu372=) | |
11 | g.68157988T>G | CA381587772 | KMT5B | c.2145A>C (p.Glu715Asp) n.2710A>C c.*1982A>C (n.*1982A>C) c.*2025A>C (n.*2025A>C) c.1842A>C (p.Glu614Asp) c.*1566A>C (n.*1566A>C) c.2358A>C (p.Glu786Asp) c.1638A>C (p.Glu546Asp) c.2289A>C (p.Glu763Asp) c.1116A>C (p.Glu372Asp) | |
11 | g.68157989T>A | CA381587781 | KMT5B | c.2144A>T (p.Glu715Val) n.2709A>T c.*1981A>T (n.*1981A>T) c.*2024A>T (n.*2024A>T) c.1841A>T (p.Glu614Val) c.*1565A>T (n.*1565A>T) c.2357A>T (p.Glu786Val) c.1637A>T (p.Glu546Val) c.2288A>T (p.Glu763Val) c.1115A>T (p.Glu372Val) | |
11 | g.68157989T>C | CA381587783 | KMT5B | c.2144A>G (p.Glu715Gly) n.2709A>G c.*1981A>G (n.*1981A>G) c.*2024A>G (n.*2024A>G) c.1841A>G (p.Glu614Gly) c.*1565A>G (n.*1565A>G) c.2357A>G (p.Glu786Gly) c.1637A>G (p.Glu546Gly) c.2288A>G (p.Glu763Gly) c.1115A>G (p.Glu372Gly) | |
11 | g.68157989T>G | CA381587799 | KMT5B | c.2144A>C (p.Glu715Ala) n.2709A>C c.*1981A>C (n.*1981A>C) c.*2024A>C (n.*2024A>C) c.1841A>C (p.Glu614Ala) c.*1565A>C (n.*1565A>C) c.2357A>C (p.Glu786Ala) c.1637A>C (p.Glu546Ala) c.2288A>C (p.Glu763Ala) c.1115A>C (p.Glu372Ala) | |
11 | g.68157991_68157993del | CA2574900137 | KMT5B | c.2142_2144del (p.Glu715del) n.2707_2709del c.*1979_*1981del (n.*1979_*1981del) c.*2022_*2024del (n.*2022_*2024del) c.1839_1841del (p.Glu614del) c.*1563_*1565del (n.*1563_*1565del) c.2355_2357del (p.Glu786del) c.1635_1637del (p.Glu546del) c.2286_2288del (p.Glu763del) c.1113_1115del (p.Glu372del) | |
11 | g.68157990C>A | CA381587802 | KMT5B | c.2143G>T (p.Glu715Ter) n.2708G>T c.*1980G>T (n.*1980G>T) c.*2023G>T (n.*2023G>T) c.1840G>T (p.Glu614Ter) c.*1564G>T (n.*1564G>T) c.2356G>T (p.Glu786Ter) c.1636G>T (p.Glu546Ter) c.2287G>T (p.Glu763Ter) c.1114G>T (p.Glu372Ter) | |
11 | g.68157990C>G | CA381587805 | KMT5B | c.2143G>C (p.Glu715Gln) n.2708G>C c.*1980G>C (n.*1980G>C) c.*2023G>C (n.*2023G>C) c.1840G>C (p.Glu614Gln) c.*1564G>C (n.*1564G>C) c.2356G>C (p.Glu786Gln) c.1636G>C (p.Glu546Gln) c.2287G>C (p.Glu763Gln) c.1114G>C (p.Glu372Gln) | dbSNP |
11 | g.68157990C>T | CA381587809 | KMT5B | c.2143G>A (p.Glu715Lys) n.2708G>A c.*1980G>A (n.*1980G>A) c.*2023G>A (n.*2023G>A) c.1840G>A (p.Glu614Lys) c.*1564G>A (n.*1564G>A) c.2356G>A (p.Glu786Lys) c.1636G>A (p.Glu546Lys) c.2287G>A (p.Glu763Lys) c.1114G>A (p.Glu372Lys) | |
11 | g.68157991C>A | CA381587810 | KMT5B | c.2142G>T (p.Glu714Asp) n.2707G>T c.*1979G>T (n.*1979G>T) c.*2022G>T (n.*2022G>T) c.1839G>T (p.Glu613Asp) c.*1563G>T (n.*1563G>T) c.2355G>T (p.Glu785Asp) c.1635G>T (p.Glu545Asp) c.2286G>T (p.Glu762Asp) c.1113G>T (p.Glu371Asp) | |
11 | g.68157991C>G | CA381587813 | KMT5B | c.2142G>C (p.Glu714Asp) n.2707G>C c.*1979G>C (n.*1979G>C) c.*2022G>C (n.*2022G>C) c.1839G>C (p.Glu613Asp) c.*1563G>C (n.*1563G>C) c.2355G>C (p.Glu785Asp) c.1635G>C (p.Glu545Asp) c.2286G>C (p.Glu762Asp) c.1113G>C (p.Glu371Asp) | |
11 | g.68157991C>T | CA475514746 | KMT5B | c.2142G>A (p.Glu714=) n.2707G>A c.*1979G>A (n.*1979G>A) c.*2022G>A (n.*2022G>A) c.1839G>A (p.Glu613=) c.*1563G>A (n.*1563G>A) c.2355G>A (p.Glu785=) c.1635G>A (p.Glu545=) c.2286G>A (p.Glu762=) c.1113G>A (p.Glu371=) | gnomAD v4 |
11 | g.68157992T>A | CA381587814 | KMT5B | c.2141A>T (p.Glu714Val) n.2706A>T c.*1978A>T (n.*1978A>T) c.*2021A>T (n.*2021A>T) c.1838A>T (p.Glu613Val) c.*1562A>T (n.*1562A>T) c.2354A>T (p.Glu785Val) c.1634A>T (p.Glu545Val) c.2285A>T (p.Glu762Val) c.1112A>T (p.Glu371Val) | |
11 | g.68157992T>C | CA381587815 | KMT5B | c.2141A>G (p.Glu714Gly) n.2706A>G c.*1978A>G (n.*1978A>G) c.*2021A>G (n.*2021A>G) c.1838A>G (p.Glu613Gly) c.*1562A>G (n.*1562A>G) c.2354A>G (p.Glu785Gly) c.1634A>G (p.Glu545Gly) c.2285A>G (p.Glu762Gly) c.1112A>G (p.Glu371Gly) | |
11 | g.68157992T>G | CA381587816 | KMT5B | c.2141A>C (p.Glu714Ala) n.2706A>C c.*1978A>C (n.*1978A>C) c.*2021A>C (n.*2021A>C) c.1838A>C (p.Glu613Ala) c.*1562A>C (n.*1562A>C) c.2354A>C (p.Glu785Ala) c.1634A>C (p.Glu545Ala) c.2285A>C (p.Glu762Ala) c.1112A>C (p.Glu371Ala) | |
11 | g.68157993C>A | CA381587819 | KMT5B | c.2140G>T (p.Glu714Ter) n.2705G>T c.*1977G>T (n.*1977G>T) c.*2020G>T (n.*2020G>T) c.1837G>T (p.Glu613Ter) c.*1561G>T (n.*1561G>T) c.2353G>T (p.Glu785Ter) c.1633G>T (p.Glu545Ter) c.2284G>T (p.Glu762Ter) c.1111G>T (p.Glu371Ter) | |
11 | g.68157993C>G | CA381587822 | KMT5B | c.2140G>C (p.Glu714Gln) n.2705G>C c.*1977G>C (n.*1977G>C) c.*2020G>C (n.*2020G>C) c.1837G>C (p.Glu613Gln) c.*1561G>C (n.*1561G>C) c.2353G>C (p.Glu785Gln) c.1633G>C (p.Glu545Gln) c.2284G>C (p.Glu762Gln) c.1111G>C (p.Glu371Gln) | |
11 | g.68157993C>T | CA381587826 | KMT5B | c.2140G>A (p.Glu714Lys) n.2705G>A c.*1977G>A (n.*1977G>A) c.*2020G>A (n.*2020G>A) c.1837G>A (p.Glu613Lys) c.*1561G>A (n.*1561G>A) c.2353G>A (p.Glu785Lys) c.1633G>A (p.Glu545Lys) c.2284G>A (p.Glu762Lys) c.1111G>A (p.Glu371Lys) | |
11 | g.68157994A>C | CA381587831 | KMT5B | c.2139T>G (p.Asp713Glu) n.2704T>G c.*1976T>G (n.*1976T>G) c.*2019T>G (n.*2019T>G) c.1836T>G (p.Asp612Glu) c.*1560T>G (n.*1560T>G) c.2352T>G (p.Asp784Glu) c.1632T>G (p.Asp544Glu) c.2283T>G (p.Asp761Glu) c.1110T>G (p.Asp370Glu) | |
11 | g.68157994A>G | CA475514747 | KMT5B | c.2139T>C (p.Asp713=) n.2704T>C c.*1976T>C (n.*1976T>C) c.*2019T>C (n.*2019T>C) c.1836T>C (p.Asp612=) c.*1560T>C (n.*1560T>C) c.2352T>C (p.Asp784=) c.1632T>C (p.Asp544=) c.2283T>C (p.Asp761=) c.1110T>C (p.Asp370=) | gnomAD v4 |
11 | g.68157994A>T | CA381587843 | KMT5B | c.2139T>A (p.Asp713Glu) n.2704T>A c.*1976T>A (n.*1976T>A) c.*2019T>A (n.*2019T>A) c.1836T>A (p.Asp612Glu) c.*1560T>A (n.*1560T>A) c.2352T>A (p.Asp784Glu) c.1632T>A (p.Asp544Glu) c.2283T>A (p.Asp761Glu) c.1110T>A (p.Asp370Glu) | |
11 | g.68157995T>A | CA381587847 | KMT5B | c.2138A>T (p.Asp713Val) n.2703A>T c.*1975A>T (n.*1975A>T) c.*2018A>T (n.*2018A>T) c.1835A>T (p.Asp612Val) c.*1559A>T (n.*1559A>T) c.2351A>T (p.Asp784Val) c.1631A>T (p.Asp544Val) c.2282A>T (p.Asp761Val) c.1109A>T (p.Asp370Val) | |
11 | g.68157995T>C | CA381587854 | KMT5B | c.2138A>G (p.Asp713Gly) n.2703A>G c.*1975A>G (n.*1975A>G) c.*2018A>G (n.*2018A>G) c.1835A>G (p.Asp612Gly) c.*1559A>G (n.*1559A>G) c.2351A>G (p.Asp784Gly) c.1631A>G (p.Asp544Gly) c.2282A>G (p.Asp761Gly) c.1109A>G (p.Asp370Gly) | gnomAD v4 |
11 | g.68157995T>G | CA381587852 | KMT5B | c.2138A>C (p.Asp713Ala) n.2703A>C c.*1975A>C (n.*1975A>C) c.*2018A>C (n.*2018A>C) c.1835A>C (p.Asp612Ala) c.*1559A>C (n.*1559A>C) c.2351A>C (p.Asp784Ala) c.1631A>C (p.Asp544Ala) c.2282A>C (p.Asp761Ala) c.1109A>C (p.Asp370Ala) | |
11 | g.68157996C>A | CA381587860 | KMT5B | c.2137G>T (p.Asp713Tyr) n.2702G>T c.*1974G>T (n.*1974G>T) c.*2017G>T (n.*2017G>T) c.1834G>T (p.Asp612Tyr) c.*1558G>T (n.*1558G>T) c.2350G>T (p.Asp784Tyr) c.1630G>T (p.Asp544Tyr) c.2281G>T (p.Asp761Tyr) c.1108G>T (p.Asp370Tyr) | |
11 | g.68157996C>G | CA381587864 | KMT5B | c.2137G>C (p.Asp713His) n.2702G>C c.*1974G>C (n.*1974G>C) c.*2017G>C (n.*2017G>C) c.1834G>C (p.Asp612His) c.*1558G>C (n.*1558G>C) c.2350G>C (p.Asp784His) c.1630G>C (p.Asp544His) c.2281G>C (p.Asp761His) c.1108G>C (p.Asp370His) | |
11 | g.68157996C>T | CA381587862 | KMT5B | c.2137G>A (p.Asp713Asn) n.2702G>A c.*1974G>A (n.*1974G>A) c.*2017G>A (n.*2017G>A) c.1834G>A (p.Asp612Asn) c.*1558G>A (n.*1558G>A) c.2350G>A (p.Asp784Asn) c.1630G>A (p.Asp544Asn) c.2281G>A (p.Asp761Asn) c.1108G>A (p.Asp370Asn) | |
11 | g.68157997T>A | CA475514748 | KMT5B | c.2136A>T (p.Arg712=) n.2701A>T c.*1973A>T (n.*1973A>T) c.*2016A>T (n.*2016A>T) c.1833A>T (p.Arg611=) c.*1557A>T (n.*1557A>T) c.2349A>T (p.Arg783=) c.1629A>T (p.Arg543=) c.2280A>T (p.Arg760=) c.1107A>T (p.Arg369=) | |
11 | g.68157997T>C | CA475514749 | KMT5B | c.2136A>G (p.Arg712=) n.2701A>G c.*1973A>G (n.*1973A>G) c.*2016A>G (n.*2016A>G) c.1833A>G (p.Arg611=) c.*1557A>G (n.*1557A>G) c.2349A>G (p.Arg783=) c.1629A>G (p.Arg543=) c.2280A>G (p.Arg760=) c.1107A>G (p.Arg369=) | dbSNP |
11 | g.68157997T>G | CA475514750 | KMT5B | c.2136A>C (p.Arg712=) n.2701A>C c.*1973A>C (n.*1973A>C) c.*2016A>C (n.*2016A>C) c.1833A>C (p.Arg611=) c.*1557A>C (n.*1557A>C) c.2349A>C (p.Arg783=) c.1629A>C (p.Arg543=) c.2280A>C (p.Arg760=) c.1107A>C (p.Arg369=) | |
11 | g.68157997T= | CA1980500375 | KMT5B | c.2136A= (p.Arg712=) n.2701A= c.*1973A= (n.*1973A=) c.*2016A= (n.*2016A=) c.1833A= (p.Arg611=) c.*1557A= (n.*1557A=) c.2349A= (p.Arg783=) c.1629A= (p.Arg543=) c.2280A= (p.Arg760=) c.1107A= (p.Arg369=) | |
11 | g.68157998C>A | CA381587866 | KMT5B | c.2135G>T (p.Arg712Leu) n.2700G>T c.*1972G>T (n.*1972G>T) c.*2015G>T (n.*2015G>T) c.1832G>T (p.Arg611Leu) c.*1556G>T (n.*1556G>T) c.2348G>T (p.Arg783Leu) c.1628G>T (p.Arg543Leu) c.2279G>T (p.Arg760Leu) c.1106G>T (p.Arg369Leu) | |
11 | g.68157998C= | CA1980500381 | KMT5B | c.2135G= (p.Arg712=) n.2700G= c.*1972G= (n.*1972G=) c.*2015G= (n.*2015G=) c.1832G= (p.Arg611=) c.*1556G= (n.*1556G=) c.2348G= (p.Arg783=) c.1628G= (p.Arg543=) c.2279G= (p.Arg760=) c.1106G= (p.Arg369=) | |
11 | g.68157998C>G | CA381587870 | KMT5B | c.2135G>C (p.Arg712Pro) n.2700G>C c.*1972G>C (n.*1972G>C) c.*2015G>C (n.*2015G>C) c.1832G>C (p.Arg611Pro) c.*1556G>C (n.*1556G>C) c.2348G>C (p.Arg783Pro) c.1628G>C (p.Arg543Pro) c.2279G>C (p.Arg760Pro) c.1106G>C (p.Arg369Pro) | gnomAD v4 |
11 | g.68157998C>T | CA6148022 | KMT5B | c.2135G>A (p.Arg712Gln) n.2700G>A c.*1972G>A (n.*1972G>A) c.*2015G>A (n.*2015G>A) c.1832G>A (p.Arg611Gln) c.*1556G>A (n.*1556G>A) c.2348G>A (p.Arg783Gln) c.1628G>A (p.Arg543Gln) c.2279G>A (p.Arg760Gln) c.1106G>A (p.Arg369Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68157999G>A | CA381587874 | KMT5B | c.2134C>T (p.Arg712Ter) n.2699C>T c.*1971C>T (n.*1971C>T) c.*2014C>T (n.*2014C>T) c.1831C>T (p.Arg611Ter) c.*1555C>T (n.*1555C>T) c.2347C>T (p.Arg783Ter) c.1627C>T (p.Arg543Ter) c.2278C>T (p.Arg760Ter) c.1105C>T (p.Arg369Ter) | ClinVar dbSNP COSMIC COSMIC |
11 | g.68157999G>C | CA381587881 | KMT5B | c.2134C>G (p.Arg712Gly) n.2699C>G c.*1971C>G (n.*1971C>G) c.*2014C>G (n.*2014C>G) c.1831C>G (p.Arg611Gly) c.*1555C>G (n.*1555C>G) c.2347C>G (p.Arg783Gly) c.1627C>G (p.Arg543Gly) c.2278C>G (p.Arg760Gly) c.1105C>G (p.Arg369Gly) | |
11 | g.68157999G= | CA1980500390 | KMT5B | c.2134C= (p.Arg712=) n.2699C= c.*1971C= (n.*1971C=) c.*2014C= (n.*2014C=) c.1831C= (p.Arg611=) c.*1555C= (n.*1555C=) c.2347C= (p.Arg783=) c.1627C= (p.Arg543=) c.2278C= (p.Arg760=) c.1105C= (p.Arg369=) | |
11 | g.68157999G>T | CA475514751 | KMT5B | c.2134C>A (p.Arg712=) n.2699C>A c.*1971C>A (n.*1971C>A) c.*2014C>A (n.*2014C>A) c.1831C>A (p.Arg611=) c.*1555C>A (n.*1555C>A) c.2347C>A (p.Arg783=) c.1627C>A (p.Arg543=) c.2278C>A (p.Arg760=) c.1105C>A (p.Arg369=) | gnomAD v4 |
11 | g.68158000T>A | CA381587885 | KMT5B | c.2133A>T (p.Lys711Asn) n.2698A>T c.*1970A>T (n.*1970A>T) c.*2013A>T (n.*2013A>T) c.1830A>T (p.Lys610Asn) c.*1554A>T (n.*1554A>T) c.2346A>T (p.Lys782Asn) c.1626A>T (p.Lys542Asn) c.2277A>T (p.Lys759Asn) c.1104A>T (p.Lys368Asn) | |
11 | g.68158000T>C | CA475514752 | KMT5B | c.2133A>G (p.Lys711=) n.2698A>G c.*1970A>G (n.*1970A>G) c.*2013A>G (n.*2013A>G) c.1830A>G (p.Lys610=) c.*1554A>G (n.*1554A>G) c.2346A>G (p.Lys782=) c.1626A>G (p.Lys542=) c.2277A>G (p.Lys759=) c.1104A>G (p.Lys368=) | |
11 | g.68158000T>G | CA381587888 | KMT5B | c.2133A>C (p.Lys711Asn) n.2698A>C c.*1970A>C (n.*1970A>C) c.*2013A>C (n.*2013A>C) c.1830A>C (p.Lys610Asn) c.*1554A>C (n.*1554A>C) c.2346A>C (p.Lys782Asn) c.1626A>C (p.Lys542Asn) c.2277A>C (p.Lys759Asn) c.1104A>C (p.Lys368Asn) | |
11 | g.68158001T>A | CA381587891 | KMT5B | c.2132A>T (p.Lys711Ile) n.2697A>T c.*1969A>T (n.*1969A>T) c.*2012A>T (n.*2012A>T) c.1829A>T (p.Lys610Ile) c.*1553A>T (n.*1553A>T) c.2345A>T (p.Lys782Ile) c.1625A>T (p.Lys542Ile) c.2276A>T (p.Lys759Ile) c.1103A>T (p.Lys368Ile) | |
11 | g.68158001T>C | CA381587894 | KMT5B | c.2132A>G (p.Lys711Arg) n.2697A>G c.*1969A>G (n.*1969A>G) c.*2012A>G (n.*2012A>G) c.1829A>G (p.Lys610Arg) c.*1553A>G (n.*1553A>G) c.2345A>G (p.Lys782Arg) c.1625A>G (p.Lys542Arg) c.2276A>G (p.Lys759Arg) c.1103A>G (p.Lys368Arg) | |
11 | g.68158001T>G | CA381587897 | KMT5B | c.2132A>C (p.Lys711Thr) n.2697A>C c.*1969A>C (n.*1969A>C) c.*2012A>C (n.*2012A>C) c.1829A>C (p.Lys610Thr) c.*1553A>C (n.*1553A>C) c.2345A>C (p.Lys782Thr) c.1625A>C (p.Lys542Thr) c.2276A>C (p.Lys759Thr) c.1103A>C (p.Lys368Thr) | |
11 | g.68158002T>A | CA381587900 | KMT5B | c.2131A>T (p.Lys711Ter) n.2696A>T c.*1968A>T (n.*1968A>T) c.*2011A>T (n.*2011A>T) c.1828A>T (p.Lys610Ter) c.*1552A>T (n.*1552A>T) c.2344A>T (p.Lys782Ter) c.1624A>T (p.Lys542Ter) c.2275A>T (p.Lys759Ter) c.1102A>T (p.Lys368Ter) | |
11 | g.68158002T>C | CA381587902 | KMT5B | c.2131A>G (p.Lys711Glu) n.2696A>G c.*1968A>G (n.*1968A>G) c.*2011A>G (n.*2011A>G) c.1828A>G (p.Lys610Glu) c.*1552A>G (n.*1552A>G) c.2344A>G (p.Lys782Glu) c.1624A>G (p.Lys542Glu) c.2275A>G (p.Lys759Glu) c.1102A>G (p.Lys368Glu) | |
11 | g.68158002T>G | CA381587905 | KMT5B | c.2131A>C (p.Lys711Gln) n.2696A>C c.*1968A>C (n.*1968A>C) c.*2011A>C (n.*2011A>C) c.1828A>C (p.Lys610Gln) c.*1552A>C (n.*1552A>C) c.2344A>C (p.Lys782Gln) c.1624A>C (p.Lys542Gln) c.2275A>C (p.Lys759Gln) c.1102A>C (p.Lys368Gln) | |
11 | g.68158003T>A | CA475514753 | KMT5B | c.2130A>T (p.Leu710=) n.2695A>T c.*1967A>T (n.*1967A>T) c.*2010A>T (n.*2010A>T) c.1827A>T (p.Leu609=) c.*1551A>T (n.*1551A>T) c.2343A>T (p.Leu781=) c.1623A>T (p.Leu541=) c.2274A>T (p.Leu758=) c.1101A>T (p.Leu367=) | |
11 | g.68158003T>C | CA475514754 | KMT5B | c.2130A>G (p.Leu710=) n.2695A>G c.*1967A>G (n.*1967A>G) c.*2010A>G (n.*2010A>G) c.1827A>G (p.Leu609=) c.*1551A>G (n.*1551A>G) c.2343A>G (p.Leu781=) c.1623A>G (p.Leu541=) c.2274A>G (p.Leu758=) c.1101A>G (p.Leu367=) | |
11 | g.68158003T>G | CA475514755 | KMT5B | c.2130A>C (p.Leu710=) n.2695A>C c.*1967A>C (n.*1967A>C) c.*2010A>C (n.*2010A>C) c.1827A>C (p.Leu609=) c.*1551A>C (n.*1551A>C) c.2343A>C (p.Leu781=) c.1623A>C (p.Leu541=) c.2274A>C (p.Leu758=) c.1101A>C (p.Leu367=) | |
11 | g.68158004A>C | CA381587910 | KMT5B | c.2129T>G (p.Leu710Arg) n.2694T>G c.*1966T>G (n.*1966T>G) c.*2009T>G (n.*2009T>G) c.1826T>G (p.Leu609Arg) c.*1550T>G (n.*1550T>G) c.2342T>G (p.Leu781Arg) c.1622T>G (p.Leu541Arg) c.2273T>G (p.Leu758Arg) c.1100T>G (p.Leu367Arg) | |
11 | g.68158004A>G | CA381587909 | KMT5B | c.2129T>C (p.Leu710Pro) n.2694T>C c.*1966T>C (n.*1966T>C) c.*2009T>C (n.*2009T>C) c.1826T>C (p.Leu609Pro) c.*1550T>C (n.*1550T>C) c.2342T>C (p.Leu781Pro) c.1622T>C (p.Leu541Pro) c.2273T>C (p.Leu758Pro) c.1100T>C (p.Leu367Pro) | |
11 | g.68158004A>T | CA381587908 | KMT5B | c.2129T>A (p.Leu710Gln) n.2694T>A c.*1966T>A (n.*1966T>A) c.*2009T>A (n.*2009T>A) c.1826T>A (p.Leu609Gln) c.*1550T>A (n.*1550T>A) c.2342T>A (p.Leu781Gln) c.1622T>A (p.Leu541Gln) c.2273T>A (p.Leu758Gln) c.1100T>A (p.Leu367Gln) | |
11 | g.68158005G>A | CA475514756 | KMT5B | c.2128C>T (p.Leu710=) n.2693C>T c.*1965C>T (n.*1965C>T) c.*2008C>T (n.*2008C>T) c.1825C>T (p.Leu609=) c.*1549C>T (n.*1549C>T) c.2341C>T (p.Leu781=) c.1621C>T (p.Leu541=) c.2272C>T (p.Leu758=) c.1099C>T (p.Leu367=) | |
11 | g.68158005G>C | CA381587914 | KMT5B | c.2128C>G (p.Leu710Val) n.2693C>G c.*1965C>G (n.*1965C>G) c.*2008C>G (n.*2008C>G) c.1825C>G (p.Leu609Val) c.*1549C>G (n.*1549C>G) c.2341C>G (p.Leu781Val) c.1621C>G (p.Leu541Val) c.2272C>G (p.Leu758Val) c.1099C>G (p.Leu367Val) | |
11 | g.68158005G>T | CA381587917 | KMT5B | c.2128C>A (p.Leu710Ile) n.2693C>A c.*1965C>A (n.*1965C>A) c.*2008C>A (n.*2008C>A) c.1825C>A (p.Leu609Ile) c.*1549C>A (n.*1549C>A) c.2341C>A (p.Leu781Ile) c.1621C>A (p.Leu541Ile) c.2272C>A (p.Leu758Ile) c.1099C>A (p.Leu367Ile) | |
11 | g.68158006C>A | CA381587919 | KMT5B | c.2127G>T (p.Gln709His) n.2692G>T c.*1964G>T (n.*1964G>T) c.*2007G>T (n.*2007G>T) c.1824G>T (p.Gln608His) c.*1548G>T (n.*1548G>T) c.2340G>T (p.Gln780His) c.1620G>T (p.Gln540His) c.2271G>T (p.Gln757His) c.1098G>T (p.Gln366His) | |
11 | g.68158006C= | CA1980500396 | KMT5B | c.2127G= (p.Gln709=) n.2692G= c.*1964G= (n.*1964G=) c.*2007G= (n.*2007G=) c.1824G= (p.Gln608=) c.*1548G= (n.*1548G=) c.2340G= (p.Gln780=) c.1620G= (p.Gln540=) c.2271G= (p.Gln757=) c.1098G= (p.Gln366=) | |
11 | g.68158006C>G | CA381587920 | KMT5B | c.2127G>C (p.Gln709His) n.2692G>C c.*1964G>C (n.*1964G>C) c.*2007G>C (n.*2007G>C) c.1824G>C (p.Gln608His) c.*1548G>C (n.*1548G>C) c.2340G>C (p.Gln780His) c.1620G>C (p.Gln540His) c.2271G>C (p.Gln757His) c.1098G>C (p.Gln366His) | |
11 | g.68158006C>T | CA475514757 | KMT5B | c.2127G>A (p.Gln709=) n.2692G>A c.*1964G>A (n.*1964G>A) c.*2007G>A (n.*2007G>A) c.1824G>A (p.Gln608=) c.*1548G>A (n.*1548G>A) c.2340G>A (p.Gln780=) c.1620G>A (p.Gln540=) c.2271G>A (p.Gln757=) c.1098G>A (p.Gln366=) | dbSNP gnomAD v4 |
11 | g.68158007T>A | CA381587922 | KMT5B | c.2126A>T (p.Gln709Leu) n.2691A>T c.*1963A>T (n.*1963A>T) c.*2006A>T (n.*2006A>T) c.1823A>T (p.Gln608Leu) c.*1547A>T (n.*1547A>T) c.2339A>T (p.Gln780Leu) c.1619A>T (p.Gln540Leu) c.2270A>T (p.Gln757Leu) c.1097A>T (p.Gln366Leu) | |
11 | g.68158007T>C | CA381587924 | KMT5B | c.2126A>G (p.Gln709Arg) n.2691A>G c.*1963A>G (n.*1963A>G) c.*2006A>G (n.*2006A>G) c.1823A>G (p.Gln608Arg) c.*1547A>G (n.*1547A>G) c.2339A>G (p.Gln780Arg) c.1619A>G (p.Gln540Arg) c.2270A>G (p.Gln757Arg) c.1097A>G (p.Gln366Arg) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68158007T>G | CA381587927 | KMT5B | c.2126A>C (p.Gln709Pro) n.2691A>C c.*1963A>C (n.*1963A>C) c.*2006A>C (n.*2006A>C) c.1823A>C (p.Gln608Pro) c.*1547A>C (n.*1547A>C) c.2339A>C (p.Gln780Pro) c.1619A>C (p.Gln540Pro) c.2270A>C (p.Gln757Pro) c.1097A>C (p.Gln366Pro) | |
11 | g.68158007T= | CA1980500398 | KMT5B | c.2126A= (p.Gln709=) n.2691A= c.*1963A= (n.*1963A=) c.*2006A= (n.*2006A=) c.1823A= (p.Gln608=) c.*1547A= (n.*1547A=) c.2339A= (p.Gln780=) c.1619A= (p.Gln540=) c.2270A= (p.Gln757=) c.1097A= (p.Gln366=) | |
11 | g.68158008G>A | CA381587930 | KMT5B | c.2125C>T (p.Gln709Ter) n.2690C>T c.*1962C>T (n.*1962C>T) c.*2005C>T (n.*2005C>T) c.1822C>T (p.Gln608Ter) c.*1546C>T (n.*1546C>T) c.2338C>T (p.Gln780Ter) c.1618C>T (p.Gln540Ter) c.2269C>T (p.Gln757Ter) c.1096C>T (p.Gln366Ter) | |
11 | g.68158008G>C | CA381587931 | KMT5B | c.2125C>G (p.Gln709Glu) n.2690C>G c.*1962C>G (n.*1962C>G) c.*2005C>G (n.*2005C>G) c.1822C>G (p.Gln608Glu) c.*1546C>G (n.*1546C>G) c.2338C>G (p.Gln780Glu) c.1618C>G (p.Gln540Glu) c.2269C>G (p.Gln757Glu) c.1096C>G (p.Gln366Glu) | |
11 | g.68158008G>T | CA381587934 | KMT5B | c.2125C>A (p.Gln709Lys) n.2690C>A c.*1962C>A (n.*1962C>A) c.*2005C>A (n.*2005C>A) c.1822C>A (p.Gln608Lys) c.*1546C>A (n.*1546C>A) c.2338C>A (p.Gln780Lys) c.1618C>A (p.Gln540Lys) c.2269C>A (p.Gln757Lys) c.1096C>A (p.Gln366Lys) | |
11 | g.68158009G>A | CA475514758 | KMT5B | c.2124C>T (p.Ile708=) n.2689C>T c.*1961C>T (n.*1961C>T) c.*2004C>T (n.*2004C>T) c.1821C>T (p.Ile607=) c.*1545C>T (n.*1545C>T) c.2337C>T (p.Ile779=) c.1617C>T (p.Ile539=) c.2268C>T (p.Ile756=) c.1095C>T (p.Ile365=) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.68158009G>C | CA381587937 | KMT5B | c.2124C>G (p.Ile708Met) n.2689C>G c.*1961C>G (n.*1961C>G) c.*2004C>G (n.*2004C>G) c.1821C>G (p.Ile607Met) c.*1545C>G (n.*1545C>G) c.2337C>G (p.Ile779Met) c.1617C>G (p.Ile539Met) c.2268C>G (p.Ile756Met) c.1095C>G (p.Ile365Met) | |
11 | g.68158009G= | CA1980500403 | KMT5B | c.2124C= (p.Ile708=) n.2689C= c.*1961C= (n.*1961C=) c.*2004C= (n.*2004C=) c.1821C= (p.Ile607=) c.*1545C= (n.*1545C=) c.2337C= (p.Ile779=) c.1617C= (p.Ile539=) c.2268C= (p.Ile756=) c.1095C= (p.Ile365=) | |
11 | g.68158009G>T | CA475514759 | KMT5B | c.2124C>A (p.Ile708=) n.2689C>A c.*1961C>A (n.*1961C>A) c.*2004C>A (n.*2004C>A) c.1821C>A (p.Ile607=) c.*1545C>A (n.*1545C>A) c.2337C>A (p.Ile779=) c.1617C>A (p.Ile539=) c.2268C>A (p.Ile756=) c.1095C>A (p.Ile365=) | |
11 | g.68158010A>C | CA381587942 | KMT5B | c.2123T>G (p.Ile708Ser) n.2688T>G c.*1960T>G (n.*1960T>G) c.*2003T>G (n.*2003T>G) c.1820T>G (p.Ile607Ser) c.*1544T>G (n.*1544T>G) c.2336T>G (p.Ile779Ser) c.1616T>G (p.Ile539Ser) c.2267T>G (p.Ile756Ser) c.1094T>G (p.Ile365Ser) | |
11 | g.68158010A>G | CA381587944 | KMT5B | c.2123T>C (p.Ile708Thr) n.2688T>C c.*1960T>C (n.*1960T>C) c.*2003T>C (n.*2003T>C) c.1820T>C (p.Ile607Thr) c.*1544T>C (n.*1544T>C) c.2336T>C (p.Ile779Thr) c.1616T>C (p.Ile539Thr) c.2267T>C (p.Ile756Thr) c.1094T>C (p.Ile365Thr) | |
11 | g.68158010A>T | CA381587939 | KMT5B | c.2123T>A (p.Ile708Asn) n.2688T>A c.*1960T>A (n.*1960T>A) c.*2003T>A (n.*2003T>A) c.1820T>A (p.Ile607Asn) c.*1544T>A (n.*1544T>A) c.2336T>A (p.Ile779Asn) c.1616T>A (p.Ile539Asn) c.2267T>A (p.Ile756Asn) c.1094T>A (p.Ile365Asn) | |
11 | g.68158011T>A | CA381587949 | KMT5B | c.2122A>T (p.Ile708Phe) n.2687A>T c.*1959A>T (n.*1959A>T) c.*2002A>T (n.*2002A>T) c.1819A>T (p.Ile607Phe) c.*1543A>T (n.*1543A>T) c.2335A>T (p.Ile779Phe) c.1615A>T (p.Ile539Phe) c.2266A>T (p.Ile756Phe) c.1093A>T (p.Ile365Phe) | |
11 | g.68158011T>C | CA381587950 | KMT5B | c.2122A>G (p.Ile708Val) n.2687A>G c.*1959A>G (n.*1959A>G) c.*2002A>G (n.*2002A>G) c.1819A>G (p.Ile607Val) c.*1543A>G (n.*1543A>G) c.2335A>G (p.Ile779Val) c.1615A>G (p.Ile539Val) c.2266A>G (p.Ile756Val) c.1093A>G (p.Ile365Val) | gnomAD v4 |
11 | g.68158011T>G | CA381587953 | KMT5B | c.2122A>C (p.Ile708Leu) n.2687A>C c.*1959A>C (n.*1959A>C) c.*2002A>C (n.*2002A>C) c.1819A>C (p.Ile607Leu) c.*1543A>C (n.*1543A>C) c.2335A>C (p.Ile779Leu) c.1615A>C (p.Ile539Leu) c.2266A>C (p.Ile756Leu) c.1093A>C (p.Ile365Leu) | |
11 | g.68158012T>A | CA381587957 | KMT5B | c.2121A>T (p.Lys707Asn) n.2686A>T c.*1958A>T (n.*1958A>T) c.*2001A>T (n.*2001A>T) c.1818A>T (p.Lys606Asn) c.*1542A>T (n.*1542A>T) c.2334A>T (p.Lys778Asn) c.1614A>T (p.Lys538Asn) c.2265A>T (p.Lys755Asn) c.1092A>T (p.Lys364Asn) | |
11 | g.68158012T>C | CA475514760 | KMT5B | c.2121A>G (p.Lys707=) n.2686A>G c.*1958A>G (n.*1958A>G) c.*2001A>G (n.*2001A>G) c.1818A>G (p.Lys606=) c.*1542A>G (n.*1542A>G) c.2334A>G (p.Lys778=) c.1614A>G (p.Lys538=) c.2265A>G (p.Lys755=) c.1092A>G (p.Lys364=) | |
11 | g.68158012T>G | CA381587961 | KMT5B | c.2121A>C (p.Lys707Asn) n.2686A>C c.*1958A>C (n.*1958A>C) c.*2001A>C (n.*2001A>C) c.1818A>C (p.Lys606Asn) c.*1542A>C (n.*1542A>C) c.2334A>C (p.Lys778Asn) c.1614A>C (p.Lys538Asn) c.2265A>C (p.Lys755Asn) c.1092A>C (p.Lys364Asn) | |
11 | g.68158013T>A | CA381587962 | KMT5B | c.2120A>T (p.Lys707Ile) n.2685A>T c.*1957A>T (n.*1957A>T) c.*2000A>T (n.*2000A>T) c.1817A>T (p.Lys606Ile) c.*1541A>T (n.*1541A>T) c.2333A>T (p.Lys778Ile) c.1613A>T (p.Lys538Ile) c.2264A>T (p.Lys755Ile) c.1091A>T (p.Lys364Ile) | |
11 | g.68158013T>C | CA381587965 | KMT5B | c.2120A>G (p.Lys707Arg) n.2685A>G c.*1957A>G (n.*1957A>G) c.*2000A>G (n.*2000A>G) c.1817A>G (p.Lys606Arg) c.*1541A>G (n.*1541A>G) c.2333A>G (p.Lys778Arg) c.1613A>G (p.Lys538Arg) c.2264A>G (p.Lys755Arg) c.1091A>G (p.Lys364Arg) | COSMIC COSMIC |
11 | g.68158013T>G | CA381587968 | KMT5B | c.2120A>C (p.Lys707Thr) n.2685A>C c.*1957A>C (n.*1957A>C) c.*2000A>C (n.*2000A>C) c.1817A>C (p.Lys606Thr) c.*1541A>C (n.*1541A>C) c.2333A>C (p.Lys778Thr) c.1613A>C (p.Lys538Thr) c.2264A>C (p.Lys755Thr) c.1091A>C (p.Lys364Thr) | |
11 | g.68158014T>A | CA381587971 | KMT5B | c.2119A>T (p.Lys707Ter) n.2684A>T c.*1956A>T (n.*1956A>T) c.*1999A>T (n.*1999A>T) c.1816A>T (p.Lys606Ter) c.*1540A>T (n.*1540A>T) c.2332A>T (p.Lys778Ter) c.1612A>T (p.Lys538Ter) c.2263A>T (p.Lys755Ter) c.1090A>T (p.Lys364Ter) | |
11 | g.68158014T>C | CA381587974 | KMT5B | c.2119A>G (p.Lys707Glu) n.2684A>G c.*1956A>G (n.*1956A>G) c.*1999A>G (n.*1999A>G) c.1816A>G (p.Lys606Glu) c.*1540A>G (n.*1540A>G) c.2332A>G (p.Lys778Glu) c.1612A>G (p.Lys538Glu) c.2263A>G (p.Lys755Glu) c.1090A>G (p.Lys364Glu) | gnomAD v4 |
11 | g.68158014T>G | CA381587977 | KMT5B | c.2119A>C (p.Lys707Gln) n.2684A>C c.*1956A>C (n.*1956A>C) c.*1999A>C (n.*1999A>C) c.1816A>C (p.Lys606Gln) c.*1540A>C (n.*1540A>C) c.2332A>C (p.Lys778Gln) c.1612A>C (p.Lys538Gln) c.2263A>C (p.Lys755Gln) c.1090A>C (p.Lys364Gln) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68158014T= | CA1980500408 | KMT5B | c.2119A= (p.Lys707=) n.2684A= c.*1956A= (n.*1956A=) c.*1999A= (n.*1999A=) c.1816A= (p.Lys606=) c.*1540A= (n.*1540A=) c.2332A= (p.Lys778=) c.1612A= (p.Lys538=) c.2263A= (p.Lys755=) c.1090A= (p.Lys364=) | |
11 | g.68158015T>A | CA381587980 | KMT5B | c.2118A>T (p.Leu706Phe) n.2683A>T c.*1955A>T (n.*1955A>T) c.*1998A>T (n.*1998A>T) c.1815A>T (p.Leu605Phe) c.*1539A>T (n.*1539A>T) c.2331A>T (p.Leu777Phe) c.1611A>T (p.Leu537Phe) c.2262A>T (p.Leu754Phe) c.1089A>T (p.Leu363Phe) | dbSNP |
11 | g.68158015T>C | CA6148023 | KMT5B | c.2118A>G (p.Leu706=) n.2683A>G c.*1955A>G (n.*1955A>G) c.*1998A>G (n.*1998A>G) c.1815A>G (p.Leu605=) c.*1539A>G (n.*1539A>G) c.2331A>G (p.Leu777=) c.1611A>G (p.Leu537=) c.2262A>G (p.Leu754=) c.1089A>G (p.Leu363=) | dbSNP ExAC |
11 | g.68158015T>G | CA381587978 | KMT5B | c.2118A>C (p.Leu706Phe) n.2683A>C c.*1955A>C (n.*1955A>C) c.*1998A>C (n.*1998A>C) c.1815A>C (p.Leu605Phe) c.*1539A>C (n.*1539A>C) c.2331A>C (p.Leu777Phe) c.1611A>C (p.Leu537Phe) c.2262A>C (p.Leu754Phe) c.1089A>C (p.Leu363Phe) | |
11 | g.68158015T= | CA1980500413 | KMT5B | c.2118A= (p.Leu706=) n.2683A= c.*1955A= (n.*1955A=) c.*1998A= (n.*1998A=) c.1815A= (p.Leu605=) c.*1539A= (n.*1539A=) c.2331A= (p.Leu777=) c.1611A= (p.Leu537=) c.2262A= (p.Leu754=) c.1089A= (p.Leu363=) | |
11 | g.68158016A>C | CA381587984 | KMT5B | c.2117T>G (p.Leu706Ter) n.2682T>G c.*1954T>G (n.*1954T>G) c.*1997T>G (n.*1997T>G) c.1814T>G (p.Leu605Ter) c.*1538T>G (n.*1538T>G) c.2330T>G (p.Leu777Ter) c.1610T>G (p.Leu537Ter) c.2261T>G (p.Leu754Ter) c.1088T>G (p.Leu363Ter) | |
11 | g.68158016A>G | CA381587987 | KMT5B | c.2117T>C (p.Leu706Ser) n.2682T>C c.*1954T>C (n.*1954T>C) c.*1997T>C (n.*1997T>C) c.1814T>C (p.Leu605Ser) c.*1538T>C (n.*1538T>C) c.2330T>C (p.Leu777Ser) c.1610T>C (p.Leu537Ser) c.2261T>C (p.Leu754Ser) c.1088T>C (p.Leu363Ser) | gnomAD v4 |
11 | g.68158016A>T | CA381587989 | KMT5B | c.2117T>A (p.Leu706Ter) n.2682T>A c.*1954T>A (n.*1954T>A) c.*1997T>A (n.*1997T>A) c.1814T>A (p.Leu605Ter) c.*1538T>A (n.*1538T>A) c.2330T>A (p.Leu777Ter) c.1610T>A (p.Leu537Ter) c.2261T>A (p.Leu754Ter) c.1088T>A (p.Leu363Ter) | |
11 | g.68158017A>C | CA381587993 | KMT5B | c.2116T>G (p.Leu706Val) n.2681T>G c.*1953T>G (n.*1953T>G) c.*1996T>G (n.*1996T>G) c.1813T>G (p.Leu605Val) c.*1537T>G (n.*1537T>G) c.2329T>G (p.Leu777Val) c.1609T>G (p.Leu537Val) c.2260T>G (p.Leu754Val) c.1087T>G (p.Leu363Val) | |
11 | g.68158017A>G | CA475514761 | KMT5B | c.2116T>C (p.Leu706=) n.2681T>C c.*1953T>C (n.*1953T>C) c.*1996T>C (n.*1996T>C) c.1813T>C (p.Leu605=) c.*1537T>C (n.*1537T>C) c.2329T>C (p.Leu777=) c.1609T>C (p.Leu537=) c.2260T>C (p.Leu754=) c.1087T>C (p.Leu363=) | |
11 | g.68158017A>T | CA381587996 | KMT5B | c.2116T>A (p.Leu706Ile) n.2681T>A c.*1953T>A (n.*1953T>A) c.*1996T>A (n.*1996T>A) c.1813T>A (p.Leu605Ile) c.*1537T>A (n.*1537T>A) c.2329T>A (p.Leu777Ile) c.1609T>A (p.Leu537Ile) c.2260T>A (p.Leu754Ile) c.1087T>A (p.Leu363Ile) | |
11 | g.68158018T>A | CA381588000 | KMT5B | c.2115A>T (p.Lys705Asn) n.2680A>T c.*1952A>T (n.*1952A>T) c.*1995A>T (n.*1995A>T) c.1812A>T (p.Lys604Asn) c.*1536A>T (n.*1536A>T) c.2328A>T (p.Lys776Asn) c.1608A>T (p.Lys536Asn) c.2259A>T (p.Lys753Asn) c.1086A>T (p.Lys362Asn) | gnomAD v4 |
11 | g.68158018T>C | CA224248013 | KMT5B | c.2115A>G (p.Lys705=) n.2680A>G c.*1952A>G (n.*1952A>G) c.*1995A>G (n.*1995A>G) c.1812A>G (p.Lys604=) c.*1536A>G (n.*1536A>G) c.2328A>G (p.Lys776=) c.1608A>G (p.Lys536=) c.2259A>G (p.Lys753=) c.1086A>G (p.Lys362=) | dbSNP |
11 | g.68158018T>G | CA381587998 | KMT5B | c.2115A>C (p.Lys705Asn) n.2680A>C c.*1952A>C (n.*1952A>C) c.*1995A>C (n.*1995A>C) c.1812A>C (p.Lys604Asn) c.*1536A>C (n.*1536A>C) c.2328A>C (p.Lys776Asn) c.1608A>C (p.Lys536Asn) c.2259A>C (p.Lys753Asn) c.1086A>C (p.Lys362Asn) | |
11 | g.68158018T= | CA1980500415 | KMT5B | c.2115A= (p.Lys705=) n.2680A= c.*1952A= (n.*1952A=) c.*1995A= (n.*1995A=) c.1812A= (p.Lys604=) c.*1536A= (n.*1536A=) c.2328A= (p.Lys776=) c.1608A= (p.Lys536=) c.2259A= (p.Lys753=) c.1086A= (p.Lys362=) | |
11 | g.68158019T>A | CA381588003 | KMT5B | c.2114A>T (p.Lys705Ile) n.2679A>T c.*1951A>T (n.*1951A>T) c.*1994A>T (n.*1994A>T) c.1811A>T (p.Lys604Ile) c.*1535A>T (n.*1535A>T) c.2327A>T (p.Lys776Ile) c.1607A>T (p.Lys536Ile) c.2258A>T (p.Lys753Ile) c.1085A>T (p.Lys362Ile) | |
11 | g.68158019T>C | CA381588005 | KMT5B | c.2114A>G (p.Lys705Arg) n.2679A>G c.*1951A>G (n.*1951A>G) c.*1994A>G (n.*1994A>G) c.1811A>G (p.Lys604Arg) c.*1535A>G (n.*1535A>G) c.2327A>G (p.Lys776Arg) c.1607A>G (p.Lys536Arg) c.2258A>G (p.Lys753Arg) c.1085A>G (p.Lys362Arg) | |
11 | g.68158019T>G | CA381588006 | KMT5B | c.2114A>C (p.Lys705Thr) n.2679A>C c.*1951A>C (n.*1951A>C) c.*1994A>C (n.*1994A>C) c.1811A>C (p.Lys604Thr) c.*1535A>C (n.*1535A>C) c.2327A>C (p.Lys776Thr) c.1607A>C (p.Lys536Thr) c.2258A>C (p.Lys753Thr) c.1085A>C (p.Lys362Thr) | gnomAD v4 |
11 | g.68158020T>A | CA381588007 | KMT5B | c.2113A>T (p.Lys705Ter) n.2678A>T c.*1950A>T (n.*1950A>T) c.*1993A>T (n.*1993A>T) c.1810A>T (p.Lys604Ter) c.*1534A>T (n.*1534A>T) c.2326A>T (p.Lys776Ter) c.1606A>T (p.Lys536Ter) c.2257A>T (p.Lys753Ter) c.1084A>T (p.Lys362Ter) | |
11 | g.68158020T>C | CA381588008 | KMT5B | c.2113A>G (p.Lys705Glu) n.2678A>G c.*1950A>G (n.*1950A>G) c.*1993A>G (n.*1993A>G) c.1810A>G (p.Lys604Glu) c.*1534A>G (n.*1534A>G) c.2326A>G (p.Lys776Glu) c.1606A>G (p.Lys536Glu) c.2257A>G (p.Lys753Glu) c.1084A>G (p.Lys362Glu) | COSMIC |
11 | g.68158020T>G | CA381588009 | KMT5B | c.2113A>C (p.Lys705Gln) n.2678A>C c.*1950A>C (n.*1950A>C) c.*1993A>C (n.*1993A>C) c.1810A>C (p.Lys604Gln) c.*1534A>C (n.*1534A>C) c.2326A>C (p.Lys776Gln) c.1606A>C (p.Lys536Gln) c.2257A>C (p.Lys753Gln) c.1084A>C (p.Lys362Gln) | |
11 | g.68158021T>A | CA475514762 | KMT5B | c.2112A>T (p.Thr704=) n.2677A>T c.*1949A>T (n.*1949A>T) c.*1992A>T (n.*1992A>T) c.1809A>T (p.Thr603=) c.*1533A>T (n.*1533A>T) c.2325A>T (p.Thr775=) c.1605A>T (p.Thr535=) c.2256A>T (p.Thr752=) c.1083A>T (p.Thr361=) | |
11 | g.68158021T>C | CA475514763 | KMT5B | c.2112A>G (p.Thr704=) n.2677A>G c.*1949A>G (n.*1949A>G) c.*1992A>G (n.*1992A>G) c.1809A>G (p.Thr603=) c.*1533A>G (n.*1533A>G) c.2325A>G (p.Thr775=) c.1605A>G (p.Thr535=) c.2256A>G (p.Thr752=) c.1083A>G (p.Thr361=) | |
11 | g.68158021T>G | CA475514764 | KMT5B | c.2112A>C (p.Thr704=) n.2677A>C c.*1949A>C (n.*1949A>C) c.*1992A>C (n.*1992A>C) c.1809A>C (p.Thr603=) c.*1533A>C (n.*1533A>C) c.2325A>C (p.Thr775=) c.1605A>C (p.Thr535=) c.2256A>C (p.Thr752=) c.1083A>C (p.Thr361=) | |
11 | g.68158022G>A | CA381588016 | KMT5B | c.2111C>T (p.Thr704Ile) n.2676C>T c.*1948C>T (n.*1948C>T) c.*1991C>T (n.*1991C>T) c.1808C>T (p.Thr603Ile) c.*1532C>T (n.*1532C>T) c.2324C>T (p.Thr775Ile) c.1604C>T (p.Thr535Ile) c.2255C>T (p.Thr752Ile) c.1082C>T (p.Thr361Ile) | |
11 | g.68158022G>C | CA381588014 | KMT5B | c.2111C>G (p.Thr704Arg) n.2676C>G c.*1948C>G (n.*1948C>G) c.*1991C>G (n.*1991C>G) c.1808C>G (p.Thr603Arg) c.*1532C>G (n.*1532C>G) c.2324C>G (p.Thr775Arg) c.1604C>G (p.Thr535Arg) c.2255C>G (p.Thr752Arg) c.1082C>G (p.Thr361Arg) | |
11 | g.68158022G>T | CA381588012 | KMT5B | c.2111C>A (p.Thr704Lys) n.2676C>A c.*1948C>A (n.*1948C>A) c.*1991C>A (n.*1991C>A) c.1808C>A (p.Thr603Lys) c.*1532C>A (n.*1532C>A) c.2324C>A (p.Thr775Lys) c.1604C>A (p.Thr535Lys) c.2255C>A (p.Thr752Lys) c.1082C>A (p.Thr361Lys) | |
11 | g.68158023T>A | CA381588019 | KMT5B | c.2110A>T (p.Thr704Ser) n.2675A>T c.*1947A>T (n.*1947A>T) c.*1990A>T (n.*1990A>T) c.1807A>T (p.Thr603Ser) c.*1531A>T (n.*1531A>T) c.2323A>T (p.Thr775Ser) c.1603A>T (p.Thr535Ser) c.2254A>T (p.Thr752Ser) c.1081A>T (p.Thr361Ser) | |
11 | g.68158023T>C | CA381588024 | KMT5B | c.2110A>G (p.Thr704Ala) n.2675A>G c.*1947A>G (n.*1947A>G) c.*1990A>G (n.*1990A>G) c.1807A>G (p.Thr603Ala) c.*1531A>G (n.*1531A>G) c.2323A>G (p.Thr775Ala) c.1603A>G (p.Thr535Ala) c.2254A>G (p.Thr752Ala) c.1081A>G (p.Thr361Ala) | |
11 | g.68158023T>G | CA381588022 | KMT5B | c.2110A>C (p.Thr704Pro) n.2675A>C c.*1947A>C (n.*1947A>C) c.*1990A>C (n.*1990A>C) c.1807A>C (p.Thr603Pro) c.*1531A>C (n.*1531A>C) c.2323A>C (p.Thr775Pro) c.1603A>C (p.Thr535Pro) c.2254A>C (p.Thr752Pro) c.1081A>C (p.Thr361Pro) | |
11 | g.68158024A>C | CA475514765 | KMT5B | c.2109T>G (p.Ser703=) n.2674T>G c.*1946T>G (n.*1946T>G) c.*1989T>G (n.*1989T>G) c.1806T>G (p.Ser602=) c.*1530T>G (n.*1530T>G) c.2322T>G (p.Ser774=) c.1602T>G (p.Ser534=) c.2253T>G (p.Ser751=) c.1080T>G (p.Ser360=) | |
11 | g.68158024A>G | CA475514766 | KMT5B | c.2109T>C (p.Ser703=) n.2674T>C c.*1946T>C (n.*1946T>C) c.*1989T>C (n.*1989T>C) c.1806T>C (p.Ser602=) c.*1530T>C (n.*1530T>C) c.2322T>C (p.Ser774=) c.1602T>C (p.Ser534=) c.2253T>C (p.Ser751=) c.1080T>C (p.Ser360=) | |
11 | g.68158024A>T | CA475514767 | KMT5B | c.2109T>A (p.Ser703=) n.2674T>A c.*1946T>A (n.*1946T>A) c.*1989T>A (n.*1989T>A) c.1806T>A (p.Ser602=) c.*1530T>A (n.*1530T>A) c.2322T>A (p.Ser774=) c.1602T>A (p.Ser534=) c.2253T>A (p.Ser751=) c.1080T>A (p.Ser360=) | |
11 | g.68158025G>A | CA381588027 | KMT5B | c.2108C>T (p.Ser703Phe) n.2673C>T c.*1945C>T (n.*1945C>T) c.*1988C>T (n.*1988C>T) c.1805C>T (p.Ser602Phe) c.*1529C>T (n.*1529C>T) c.2321C>T (p.Ser774Phe) c.1601C>T (p.Ser534Phe) c.2252C>T (p.Ser751Phe) c.1079C>T (p.Ser360Phe) | |
11 | g.68158025G>C | CA381588030 | KMT5B | c.2108C>G (p.Ser703Cys) n.2673C>G c.*1945C>G (n.*1945C>G) c.*1988C>G (n.*1988C>G) c.1805C>G (p.Ser602Cys) c.*1529C>G (n.*1529C>G) c.2321C>G (p.Ser774Cys) c.1601C>G (p.Ser534Cys) c.2252C>G (p.Ser751Cys) c.1079C>G (p.Ser360Cys) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68158025G= | CA1980500431 | KMT5B | c.2108C= (p.Ser703=) n.2673C= c.*1945C= (n.*1945C=) c.*1988C= (n.*1988C=) c.1805C= (p.Ser602=) c.*1529C= (n.*1529C=) c.2321C= (p.Ser774=) c.1601C= (p.Ser534=) c.2252C= (p.Ser751=) c.1079C= (p.Ser360=) | |
11 | g.68158025G>T | CA381588033 | KMT5B | c.2108C>A (p.Ser703Tyr) n.2673C>A c.*1945C>A (n.*1945C>A) c.*1988C>A (n.*1988C>A) c.1805C>A (p.Ser602Tyr) c.*1529C>A (n.*1529C>A) c.2321C>A (p.Ser774Tyr) c.1601C>A (p.Ser534Tyr) c.2252C>A (p.Ser751Tyr) c.1079C>A (p.Ser360Tyr) | |
11 | g.68158026A>C | CA381588035 | KMT5B | c.2107T>G (p.Ser703Ala) n.2672T>G c.*1944T>G (n.*1944T>G) c.*1987T>G (n.*1987T>G) c.1804T>G (p.Ser602Ala) c.*1528T>G (n.*1528T>G) c.2320T>G (p.Ser774Ala) c.1600T>G (p.Ser534Ala) c.2251T>G (p.Ser751Ala) c.1078T>G (p.Ser360Ala) | |
11 | g.68158026A>G | CA381588038 | KMT5B | c.2107T>C (p.Ser703Pro) n.2672T>C c.*1944T>C (n.*1944T>C) c.*1987T>C (n.*1987T>C) c.1804T>C (p.Ser602Pro) c.*1528T>C (n.*1528T>C) c.2320T>C (p.Ser774Pro) c.1600T>C (p.Ser534Pro) c.2251T>C (p.Ser751Pro) c.1078T>C (p.Ser360Pro) | |
11 | g.68158026A>T | CA381588040 | KMT5B | c.2107T>A (p.Ser703Thr) n.2672T>A c.*1944T>A (n.*1944T>A) c.*1987T>A (n.*1987T>A) c.1804T>A (p.Ser602Thr) c.*1528T>A (n.*1528T>A) c.2320T>A (p.Ser774Thr) c.1600T>A (p.Ser534Thr) c.2251T>A (p.Ser751Thr) c.1078T>A (p.Ser360Thr) | |
11 | g.68158026_68158028del | CA2724554195 | KMT5B | c.2105_2107del (p.Ser702_Ser703delinsThr) n.2670_2672del c.*1942_*1944del (n.*1942_*1944del) c.*1985_*1987del (n.*1985_*1987del) c.1802_1804del (p.Ser601_Ser602delinsThr) c.*1526_*1528del (n.*1526_*1528del) c.2318_2320del (p.Ser773_Ser774delinsThr) c.1598_1600del (p.Ser533_Ser534delinsThr) c.2249_2251del (p.Ser750_Ser751delinsThr) c.1076_1078del (p.Ser359_Ser360delinsThr) | dbSNP |
11 | g.68158027A>C | CA381588042 | KMT5B | c.2106T>G (p.Ser702Arg) n.2671T>G c.*1943T>G (n.*1943T>G) c.*1986T>G (n.*1986T>G) c.1803T>G (p.Ser601Arg) c.*1527T>G (n.*1527T>G) c.2319T>G (p.Ser773Arg) c.1599T>G (p.Ser533Arg) c.2250T>G (p.Ser750Arg) c.1077T>G (p.Ser359Arg) | |
11 | g.68158027A>G | CA475514769 | KMT5B | c.2106T>C (p.Ser702=) n.2671T>C c.*1943T>C (n.*1943T>C) c.*1986T>C (n.*1986T>C) c.1803T>C (p.Ser601=) c.*1527T>C (n.*1527T>C) c.2319T>C (p.Ser773=) c.1599T>C (p.Ser533=) c.2250T>C (p.Ser750=) c.1077T>C (p.Ser359=) | gnomAD v4 |
11 | g.68158027A>T | CA381588044 | KMT5B | c.2106T>A (p.Ser702Arg) n.2671T>A c.*1943T>A (n.*1943T>A) c.*1986T>A (n.*1986T>A) c.1803T>A (p.Ser601Arg) c.*1527T>A (n.*1527T>A) c.2319T>A (p.Ser773Arg) c.1599T>A (p.Ser533Arg) c.2250T>A (p.Ser750Arg) c.1077T>A (p.Ser359Arg) | |
11 | g.68158028C>A | CA381588047 | KMT5B | c.2105G>T (p.Ser702Ile) n.2670G>T c.*1942G>T (n.*1942G>T) c.*1985G>T (n.*1985G>T) c.1802G>T (p.Ser601Ile) c.*1526G>T (n.*1526G>T) c.2318G>T (p.Ser773Ile) c.1598G>T (p.Ser533Ile) c.2249G>T (p.Ser750Ile) c.1076G>T (p.Ser359Ile) | |
11 | g.68158028C>G | CA381588049 | KMT5B | c.2105G>C (p.Ser702Thr) n.2670G>C c.*1942G>C (n.*1942G>C) c.*1985G>C (n.*1985G>C) c.1802G>C (p.Ser601Thr) c.*1526G>C (n.*1526G>C) c.2318G>C (p.Ser773Thr) c.1598G>C (p.Ser533Thr) c.2249G>C (p.Ser750Thr) c.1076G>C (p.Ser359Thr) | |
11 | g.68158028C>T | CA381588052 | KMT5B | c.2105G>A (p.Ser702Asn) n.2670G>A c.*1942G>A (n.*1942G>A) c.*1985G>A (n.*1985G>A) c.1802G>A (p.Ser601Asn) c.*1526G>A (n.*1526G>A) c.2318G>A (p.Ser773Asn) c.1598G>A (p.Ser533Asn) c.2249G>A (p.Ser750Asn) c.1076G>A (p.Ser359Asn) | |
11 | g.68158029T>A | CA381588060 | KMT5B | c.2104A>T (p.Ser702Cys) n.2669A>T c.*1941A>T (n.*1941A>T) c.*1984A>T (n.*1984A>T) c.1801A>T (p.Ser601Cys) c.*1525A>T (n.*1525A>T) c.2317A>T (p.Ser773Cys) c.1597A>T (p.Ser533Cys) c.2248A>T (p.Ser750Cys) c.1075A>T (p.Ser359Cys) | |
11 | g.68158029T>C | CA381588056 | KMT5B | c.2104A>G (p.Ser702Gly) n.2669A>G c.*1941A>G (n.*1941A>G) c.*1984A>G (n.*1984A>G) c.1801A>G (p.Ser601Gly) c.*1525A>G (n.*1525A>G) c.2317A>G (p.Ser773Gly) c.1597A>G (p.Ser533Gly) c.2248A>G (p.Ser750Gly) c.1075A>G (p.Ser359Gly) | |
11 | g.68158029T>G | CA381588059 | KMT5B | c.2104A>C (p.Ser702Arg) n.2669A>C c.*1941A>C (n.*1941A>C) c.*1984A>C (n.*1984A>C) c.1801A>C (p.Ser601Arg) c.*1525A>C (n.*1525A>C) c.2317A>C (p.Ser773Arg) c.1597A>C (p.Ser533Arg) c.2248A>C (p.Ser750Arg) c.1075A>C (p.Ser359Arg) | |
11 | g.68158030A>C | CA381588063 | KMT5B | c.2103T>G (p.Ser701Arg) n.2668T>G c.*1940T>G (n.*1940T>G) c.*1983T>G (n.*1983T>G) c.1800T>G (p.Ser600Arg) c.*1524T>G (n.*1524T>G) c.2316T>G (p.Ser772Arg) c.1596T>G (p.Ser532Arg) c.2247T>G (p.Ser749Arg) c.1074T>G (p.Ser358Arg) | |
11 | g.68158030A>G | CA475514770 | KMT5B | c.2103T>C (p.Ser701=) n.2668T>C c.*1940T>C (n.*1940T>C) c.*1983T>C (n.*1983T>C) c.1800T>C (p.Ser600=) c.*1524T>C (n.*1524T>C) c.2316T>C (p.Ser772=) c.1596T>C (p.Ser532=) c.2247T>C (p.Ser749=) c.1074T>C (p.Ser358=) | |
11 | g.68158030A>T | CA381588064 | KMT5B | c.2103T>A (p.Ser701Arg) n.2668T>A c.*1940T>A (n.*1940T>A) c.*1983T>A (n.*1983T>A) c.1800T>A (p.Ser600Arg) c.*1524T>A (n.*1524T>A) c.2316T>A (p.Ser772Arg) c.1596T>A (p.Ser532Arg) c.2247T>A (p.Ser749Arg) c.1074T>A (p.Ser358Arg) | |
11 | g.68158031C>A | CA381588068 | KMT5B | c.2102G>T (p.Ser701Ile) n.2667G>T c.*1939G>T (n.*1939G>T) c.*1982G>T (n.*1982G>T) c.1799G>T (p.Ser600Ile) c.*1523G>T (n.*1523G>T) c.2315G>T (p.Ser772Ile) c.1595G>T (p.Ser532Ile) c.2246G>T (p.Ser749Ile) c.1073G>T (p.Ser358Ile) | |
11 | g.68158031C>G | CA381588071 | KMT5B | c.2102G>C (p.Ser701Thr) n.2667G>C c.*1939G>C (n.*1939G>C) c.*1982G>C (n.*1982G>C) c.1799G>C (p.Ser600Thr) c.*1523G>C (n.*1523G>C) c.2315G>C (p.Ser772Thr) c.1595G>C (p.Ser532Thr) c.2246G>C (p.Ser749Thr) c.1073G>C (p.Ser358Thr) | |
11 | g.68158031C>T | CA381588073 | KMT5B | c.2102G>A (p.Ser701Asn) n.2667G>A c.*1939G>A (n.*1939G>A) c.*1982G>A (n.*1982G>A) c.1799G>A (p.Ser600Asn) c.*1523G>A (n.*1523G>A) c.2315G>A (p.Ser772Asn) c.1595G>A (p.Ser532Asn) c.2246G>A (p.Ser749Asn) c.1073G>A (p.Ser358Asn) | |
11 | g.68158032T>A | CA381588076 | KMT5B | c.2101A>T (p.Ser701Cys) n.2666A>T c.*1938A>T (n.*1938A>T) c.*1981A>T (n.*1981A>T) c.1798A>T (p.Ser600Cys) c.*1522A>T (n.*1522A>T) c.2314A>T (p.Ser772Cys) c.1594A>T (p.Ser532Cys) c.2245A>T (p.Ser749Cys) c.1072A>T (p.Ser358Cys) | |
11 | g.68158032T>C | CA381588078 | KMT5B | c.2101A>G (p.Ser701Gly) n.2666A>G c.*1938A>G (n.*1938A>G) c.*1981A>G (n.*1981A>G) c.1798A>G (p.Ser600Gly) c.*1522A>G (n.*1522A>G) c.2314A>G (p.Ser772Gly) c.1594A>G (p.Ser532Gly) c.2245A>G (p.Ser749Gly) c.1072A>G (p.Ser358Gly) | |
11 | g.68158032T>G | CA381588081 | KMT5B | c.2101A>C (p.Ser701Arg) n.2666A>C c.*1938A>C (n.*1938A>C) c.*1981A>C (n.*1981A>C) c.1798A>C (p.Ser600Arg) c.*1522A>C (n.*1522A>C) c.2314A>C (p.Ser772Arg) c.1594A>C (p.Ser532Arg) c.2245A>C (p.Ser749Arg) c.1072A>C (p.Ser358Arg) | |
11 | g.68158033G>A | CA475514771 | KMT5B | c.2100C>T (p.Gly700=) n.2665C>T c.*1937C>T (n.*1937C>T) c.*1980C>T (n.*1980C>T) c.1797C>T (p.Gly599=) c.*1521C>T (n.*1521C>T) c.2313C>T (p.Gly771=) c.1593C>T (p.Gly531=) c.2244C>T (p.Gly748=) c.1071C>T (p.Gly357=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68158033G>C | CA475514772 | KMT5B | c.2100C>G (p.Gly700=) n.2665C>G c.*1937C>G (n.*1937C>G) c.*1980C>G (n.*1980C>G) c.1797C>G (p.Gly599=) c.*1521C>G (n.*1521C>G) c.2313C>G (p.Gly771=) c.1593C>G (p.Gly531=) c.2244C>G (p.Gly748=) c.1071C>G (p.Gly357=) | |
11 | g.68158033G= | CA1980500437 | KMT5B | c.2100C= (p.Gly700=) n.2665C= c.*1937C= (n.*1937C=) c.*1980C= (n.*1980C=) c.1797C= (p.Gly599=) c.*1521C= (n.*1521C=) c.2313C= (p.Gly771=) c.1593C= (p.Gly531=) c.2244C= (p.Gly748=) c.1071C= (p.Gly357=) | |
11 | g.68158033G>T | CA475514773 | KMT5B | c.2100C>A (p.Gly700=) n.2665C>A c.*1937C>A (n.*1937C>A) c.*1980C>A (n.*1980C>A) c.1797C>A (p.Gly599=) c.*1521C>A (n.*1521C>A) c.2313C>A (p.Gly771=) c.1593C>A (p.Gly531=) c.2244C>A (p.Gly748=) c.1071C>A (p.Gly357=) | |
11 | g.68158034C>A | CA381588084 | KMT5B | c.2099G>T (p.Gly700Val) n.2664G>T c.*1936G>T (n.*1936G>T) c.*1979G>T (n.*1979G>T) c.1796G>T (p.Gly599Val) c.*1520G>T (n.*1520G>T) c.2312G>T (p.Gly771Val) c.1592G>T (p.Gly531Val) c.2243G>T (p.Gly748Val) c.1070G>T (p.Gly357Val) | |
11 | g.68158034C>G | CA381588086 | KMT5B | c.2099G>C (p.Gly700Ala) n.2664G>C c.*1936G>C (n.*1936G>C) c.*1979G>C (n.*1979G>C) c.1796G>C (p.Gly599Ala) c.*1520G>C (n.*1520G>C) c.2312G>C (p.Gly771Ala) c.1592G>C (p.Gly531Ala) c.2243G>C (p.Gly748Ala) c.1070G>C (p.Gly357Ala) | |
11 | g.68158034C>T | CA381588089 | KMT5B | c.2099G>A (p.Gly700Asp) n.2664G>A c.*1936G>A (n.*1936G>A) c.*1979G>A (n.*1979G>A) c.1796G>A (p.Gly599Asp) c.*1520G>A (n.*1520G>A) c.2312G>A (p.Gly771Asp) c.1592G>A (p.Gly531Asp) c.2243G>A (p.Gly748Asp) c.1070G>A (p.Gly357Asp) | gnomAD v4 |
11 | g.68158035C>A | CA381588094 | KMT5B | c.2098G>T (p.Gly700Cys) n.2663G>T c.*1935G>T (n.*1935G>T) c.*1978G>T (n.*1978G>T) c.1795G>T (p.Gly599Cys) c.*1519G>T (n.*1519G>T) c.2311G>T (p.Gly771Cys) c.1591G>T (p.Gly531Cys) c.2242G>T (p.Gly748Cys) c.1069G>T (p.Gly357Cys) | |
11 | g.68158035C= | CA1980500441 | KMT5B | c.2098G= (p.Gly700=) n.2663G= c.*1935G= (n.*1935G=) c.*1978G= (n.*1978G=) c.1795G= (p.Gly599=) c.*1519G= (n.*1519G=) c.2311G= (p.Gly771=) c.1591G= (p.Gly531=) c.2242G= (p.Gly748=) c.1069G= (p.Gly357=) | |
11 | g.68158035C>G | CA381588097 | KMT5B | c.2098G>C (p.Gly700Arg) n.2663G>C c.*1935G>C (n.*1935G>C) c.*1978G>C (n.*1978G>C) c.1795G>C (p.Gly599Arg) c.*1519G>C (n.*1519G>C) c.2311G>C (p.Gly771Arg) c.1591G>C (p.Gly531Arg) c.2242G>C (p.Gly748Arg) c.1069G>C (p.Gly357Arg) | |
11 | g.68158035C>T | CA6148024 | KMT5B | c.2098G>A (p.Gly700Ser) n.2663G>A c.*1935G>A (n.*1935G>A) c.*1978G>A (n.*1978G>A) c.1795G>A (p.Gly599Ser) c.*1519G>A (n.*1519G>A) c.2311G>A (p.Gly771Ser) c.1591G>A (p.Gly531Ser) c.2242G>A (p.Gly748Ser) c.1069G>A (p.Gly357Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68158036T>A | CA475514776 | KMT5B | c.2097A>T (p.Ser699=) n.2662A>T c.*1934A>T (n.*1934A>T) c.*1977A>T (n.*1977A>T) c.1794A>T (p.Ser598=) c.*1518A>T (n.*1518A>T) c.2310A>T (p.Ser770=) c.1590A>T (p.Ser530=) c.2241A>T (p.Ser747=) c.1068A>T (p.Ser356=) | |
11 | g.68158036T>C | CA475514777 | KMT5B | c.2097A>G (p.Ser699=) n.2662A>G c.*1934A>G (n.*1934A>G) c.*1977A>G (n.*1977A>G) c.1794A>G (p.Ser598=) c.*1518A>G (n.*1518A>G) c.2310A>G (p.Ser770=) c.1590A>G (p.Ser530=) c.2241A>G (p.Ser747=) c.1068A>G (p.Ser356=) | gnomAD v4 |
11 | g.68158036T>G | CA475514779 | KMT5B | c.2097A>C (p.Ser699=) n.2662A>C c.*1934A>C (n.*1934A>C) c.*1977A>C (n.*1977A>C) c.1794A>C (p.Ser598=) c.*1518A>C (n.*1518A>C) c.2310A>C (p.Ser770=) c.1590A>C (p.Ser530=) c.2241A>C (p.Ser747=) c.1068A>C (p.Ser356=) | |
11 | g.68158037G>A | CA381588100 | KMT5B | c.2096C>T (p.Ser699Leu) n.2661C>T c.*1933C>T (n.*1933C>T) c.*1976C>T (n.*1976C>T) c.1793C>T (p.Ser598Leu) c.*1517C>T (n.*1517C>T) c.2309C>T (p.Ser770Leu) c.1589C>T (p.Ser530Leu) c.2240C>T (p.Ser747Leu) c.1067C>T (p.Ser356Leu) | |
11 | g.68158037G>C | CA381588105 | KMT5B | c.2096C>G (p.Ser699Ter) n.2661C>G c.*1933C>G (n.*1933C>G) c.*1976C>G (n.*1976C>G) c.1793C>G (p.Ser598Ter) c.*1517C>G (n.*1517C>G) c.2309C>G (p.Ser770Ter) c.1589C>G (p.Ser530Ter) c.2240C>G (p.Ser747Ter) c.1067C>G (p.Ser356Ter) | |
11 | g.68158037G>T | CA381588106 | KMT5B | c.2096C>A (p.Ser699Ter) n.2661C>A c.*1933C>A (n.*1933C>A) c.*1976C>A (n.*1976C>A) c.1793C>A (p.Ser598Ter) c.*1517C>A (n.*1517C>A) c.2309C>A (p.Ser770Ter) c.1589C>A (p.Ser530Ter) c.2240C>A (p.Ser747Ter) c.1067C>A (p.Ser356Ter) |