Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.68157937A=CA1980500270KMT5Bc.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=)
11g.68157937A>CCA381587326KMT5Bc.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)
11g.68157937A>GCA6148015KMT5Bc.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
11g.68157937A>TCA381587327KMT5Bc.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)
11g.68157938C>ACA381587330KMT5Bc.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
11g.68157938C>GCA381587331KMT5Bc.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
11g.68157938C>TCA381587332KMT5Bc.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)
11g.68157939T>ACA381587333KMT5Bc.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)
11g.68157939T>CCA224247937KMT5Bc.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
11g.68157939T>GCA381587335KMT5Bc.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)
11g.68157939T=CA1980500285KMT5Bc.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=)
11g.68157940G>ACA475514716KMT5Bc.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
11g.68157940G>CCA381587337KMT5Bc.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)
11g.68157940G=CA1980500289KMT5Bc.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=)
11g.68157940G>TCA381587340KMT5Bc.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)
11g.68157941C>ACA381587341KMT5Bc.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
11g.68157941C=CA1980500294KMT5Bc.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=)
11g.68157941C>GCA381587346KMT5Bc.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)
11g.68157941C>TCA381587349KMT5Bc.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)
11g.68157942A>CCA381587356KMT5Bc.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)
11g.68157942A>GCA381587367KMT5Bc.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
11g.68157942A>TCA381587352KMT5Bc.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)
11g.68157943G>ACA475514717KMT5Bc.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=)
11g.68157943G>CCA381587371KMT5Bc.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)
11g.68157943G>TCA381587380KMT5Bc.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)
11g.68157944C>ACA381587384KMT5Bc.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)
11g.68157944C>GCA381587386KMT5Bc.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)
11g.68157944C>TCA381587390KMT5Bc.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)
11g.68157945A>CCA381587397KMT5Bc.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)
11g.68157945A>GCA381587396KMT5Bc.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)
11g.68157945A>TCA381587393KMT5Bc.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)
11g.68157946C>ACA475514718KMT5Bc.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=)
11g.68157946C=CA1980500297KMT5Bc.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=)
11g.68157946C>GCA475514719KMT5Bc.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=)
11g.68157946C>TCA475514720KMT5Bc.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
11g.68157947A>CCA381587400KMT5Bc.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)
11g.68157947A>GCA381587401KMT5Bc.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)
11g.68157947A>TCA381587405KMT5Bc.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)
11g.68157948C>ACA381587410KMT5Bc.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)
11g.68157948C>GCA381587414KMT5Bc.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)
11g.68157948C>TCA381587419KMT5Bc.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
11g.68157950_68157951delCA645596786KMT5Bc.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
11g.68157949C>ACA475514721KMT5Bc.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
11g.68157949C=CA1980500306KMT5Bc.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=)
11g.68157949C>GCA475514722KMT5Bc.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=)
11g.68157949C>TCA475514723KMT5Bc.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
11g.68157950C>ACA381587432KMT5Bc.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)
11g.68157950C>GCA381587423KMT5Bc.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)
11g.68157950C>TCA381587429KMT5Bc.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)
11g.68157951C>ACA381587436KMT5Bc.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)
11g.68157951C=CA1980500310KMT5Bc.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=)
11g.68157951C>GCA6148016KMT5Bc.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
11g.68157951C>TCA381587447KMT5Bc.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)
11g.68157952A>CCA381587452KMT5Bc.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)
11g.68157952A>GCA475514724KMT5Bc.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=)
11g.68157952A>TCA381587455KMT5Bc.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)
11g.68157953T>ACA381587459KMT5Bc.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)
11g.68157953T>CCA381587460KMT5Bc.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)
11g.68157953T>GCA381587464KMT5Bc.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)
11g.68157956dupCA2499221255KMT5Bc.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
11g.68157954T>ACA381587471KMT5Bc.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)
11g.68157954T>CCA381587476KMT5Bc.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)
11g.68157954T>GCA381587479KMT5Bc.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)
11g.68157955T>ACA381587482KMT5Bc.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)
11g.68157955T>CCA475514725KMT5Bc.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=)
11g.68157955T>GCA381587495KMT5Bc.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)
11g.68157956T>ACA381587502KMT5Bc.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)
11g.68157956T>CCA381587500KMT5Bc.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
11g.68157956T>GCA381587501KMT5Bc.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)
11g.68157956T=CA1980500313KMT5Bc.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=)
11g.68157957C>ACA381587503KMT5Bc.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)
11g.68157957C>GCA381587504KMT5Bc.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)
11g.68157957C>TCA381587505KMT5Bc.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)
11g.68157958A>CCA381587509KMT5Bc.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)
11g.68157958A>GCA475514726KMT5Bc.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=)
11g.68157958A>TCA381587511KMT5Bc.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)
11g.68157959T>ACA381587524KMT5Bc.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)
11g.68157959T>CCA381587520KMT5Bc.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
11g.68157959T>GCA381587514KMT5Bc.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)
11g.68157960G>ACA381587536KMT5Bc.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
11g.68157960G>CCA381587537KMT5Bc.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)
11g.68157960G>TCA381587538KMT5Bc.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)
11g.68157961A>CCA475514727KMT5Bc.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=)
11g.68157961A>GCA475514728KMT5Bc.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=)
11g.68157961A>TCA475514729KMT5Bc.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=)
11g.68157962A=CA1980500317KMT5Bc.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=)
11g.68157962A>CCA381587539KMT5Bc.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)
11g.68157962A>GCA381587542KMT5Bc.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
11g.68157962A>TCA381587547KMT5Bc.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
11g.68157963G>ACA381587549KMT5Bc.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)
11g.68157963G>CCA381587551KMT5Bc.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)
11g.68157963G=CA1980500323KMT5Bc.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=)
11g.68157963G>TCA6148017KMT5Bc.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
11g.68157964C>ACA475514732KMT5Bc.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=)
11g.68157964C>GCA475514731KMT5Bc.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=)
11g.68157964C>TCA475514730KMT5Bc.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=)
11g.68157965C>ACA381587553KMT5Bc.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)
11g.68157965C>GCA381587558KMT5Bc.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)
11g.68157965C>TCA381587562KMT5Bc.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
11g.68157966C>ACA381587567KMT5Bc.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)
11g.68157966C=CA1980500328KMT5Bc.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=)
11g.68157966C>GCA381587580KMT5Bc.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)
11g.68157966C>TCA381587582KMT5Bc.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
11g.68157967C>ACA381587584KMT5Bc.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)
11g.68157967C>GCA381587586KMT5Bc.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)
11g.68157967C>TCA475514733KMT5Bc.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=)
11g.68157968T>ACA381587590KMT5Bc.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)
11g.68157968T>CCA381587594KMT5Bc.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)
11g.68157968T>GCA381587597KMT5Bc.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)
11g.68157969C>ACA381587600KMT5Bc.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)
11g.68157969C=CA1980500343KMT5Bc.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=)
11g.68157969C>GCA381587606KMT5Bc.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
11g.68157969C>TCA381587603KMT5Bc.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)
11g.68157970T>ACA475514734KMT5Bc.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=)
11g.68157970T>CCA6148018KMT5Bc.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
11g.68157970T>GCA475514735KMT5Bc.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
11g.68157970T=CA1980500344KMT5Bc.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=)
11g.68157971G>ACA381587615KMT5Bc.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)
11g.68157971G>CCA381587609KMT5Bc.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)
11g.68157971G>TCA381587612KMT5Bc.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)
11g.68157972T>ACA381587619KMT5Bc.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)
11g.68157972T>CCA381587621KMT5Bc.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)
11g.68157972T>GCA381587623KMT5Bc.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)
11g.68157973A=CA1980500347KMT5Bc.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=)
11g.68157973A>CCA381587625KMT5Bc.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)
11g.68157973A>GCA6148019KMT5Bc.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
11g.68157973A>TCA381587630KMT5Bc.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)
11g.68157974T>ACA381587634KMT5Bc.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)
11g.68157974T>CCA381587637KMT5Bc.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)
11g.68157974T>GCA381587639KMT5Bc.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)
11g.68157975A>CCA381587662KMT5Bc.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)
11g.68157975A>GCA381587657KMT5Bc.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)
11g.68157975A>TCA381587654KMT5Bc.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)
11g.68157976A>CCA475514736KMT5Bc.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=)
11g.68157976A>GCA475514737KMT5Bc.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=)
11g.68157976A>TCA475514738KMT5Bc.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=)
11g.68157977G>ACA381587665KMT5Bc.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
11g.68157977G>CCA381587668KMT5Bc.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)
11g.68157977G>TCA381587669KMT5Bc.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)
11g.68157978A=CA1980500350KMT5Bc.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=)
11g.68157978A>CCA6148020KMT5Bc.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
11g.68157978A>GCA381587676KMT5Bc.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)
11g.68157978A>TCA381587679KMT5Bc.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)
11g.68157979C>ACA475514739KMT5Bc.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
11g.68157979C>GCA475514740KMT5Bc.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=)
11g.68157979C>TCA475514741KMT5Bc.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=)
11g.68157980C>ACA381587682KMT5Bc.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)
11g.68157980C=CA1980500353KMT5Bc.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=)
11g.68157980C>GCA381587685KMT5Bc.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
11g.68157980C>TCA6148021KMT5Bc.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
11g.68157981C>ACA381587695KMT5Bc.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
11g.68157981C=CA1980500362KMT5Bc.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=)
11g.68157981C>GCA381587700KMT5Bc.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)
11g.68157981C>TCA381587703KMT5Bc.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
11g.68157981_68157984delinsCCCTCA1980500358KMT5Bc.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=)
11g.68157982C>ACA381587712KMT5Bc.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)
11g.68157982C>GCA381587709KMT5Bc.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)
11g.68157982C>TCA475514742KMT5Bc.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
11g.68157982_68157984delCA679570361KMT5Bc.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
11g.68157983C>ACA381587716KMT5Bc.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)
11g.68157983C>GCA381587719KMT5Bc.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)
11g.68157983C>TCA381587727KMT5Bc.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)
11g.68157984T>ACA381587730KMT5Bc.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)
11g.68157984T>CCA381587732KMT5Bc.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
11g.68157984T>GCA475514743KMT5Bc.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
11g.68157984T=CA1980500371KMT5Bc.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=)
11g.68157985A>CCA381587734KMT5Bc.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)
11g.68157985A>GCA475514744KMT5Bc.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=)
11g.68157985A>TCA381587747KMT5Bc.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)
11g.68157986T>ACA381587751KMT5Bc.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)
11g.68157986T>CCA381587754KMT5Bc.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)
11g.68157986T>GCA381587766KMT5Bc.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)
11g.68157987T>ACA381587767KMT5Bc.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)
11g.68157987T>CCA381587768KMT5Bc.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
11g.68157987T>GCA381587769KMT5Bc.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)
11g.68157987T=CA1980500373KMT5Bc.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=)
11g.68157988T>ACA381587778KMT5Bc.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)
11g.68157988T>CCA475514745KMT5Bc.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=)
11g.68157988T>GCA381587772KMT5Bc.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)
11g.68157989T>ACA381587781KMT5Bc.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)
11g.68157989T>CCA381587783KMT5Bc.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)
11g.68157989T>GCA381587799KMT5Bc.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)
11g.68157991_68157993delCA2574900137KMT5Bc.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)
11g.68157990C>ACA381587802KMT5Bc.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)
11g.68157990C>GCA381587805KMT5Bc.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
11g.68157990C>TCA381587809KMT5Bc.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)
11g.68157991C>ACA381587810KMT5Bc.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)
11g.68157991C>GCA381587813KMT5Bc.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)
11g.68157991C>TCA475514746KMT5Bc.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
11g.68157992T>ACA381587814KMT5Bc.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)
11g.68157992T>CCA381587815KMT5Bc.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)
11g.68157992T>GCA381587816KMT5Bc.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)
11g.68157993C>ACA381587819KMT5Bc.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)
11g.68157993C>GCA381587822KMT5Bc.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)
11g.68157993C>TCA381587826KMT5Bc.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)
11g.68157994A>CCA381587831KMT5Bc.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)
11g.68157994A>GCA475514747KMT5Bc.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
11g.68157994A>TCA381587843KMT5Bc.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)
11g.68157995T>ACA381587847KMT5Bc.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)
11g.68157995T>CCA381587854KMT5Bc.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
11g.68157995T>GCA381587852KMT5Bc.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)
11g.68157996C>ACA381587860KMT5Bc.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)
11g.68157996C>GCA381587864KMT5Bc.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)
11g.68157996C>TCA381587862KMT5Bc.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)
11g.68157997T>ACA475514748KMT5Bc.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=)
11g.68157997T>CCA475514749KMT5Bc.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
11g.68157997T>GCA475514750KMT5Bc.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=)
11g.68157997T=CA1980500375KMT5Bc.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=)
11g.68157998C>ACA381587866KMT5Bc.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)
11g.68157998C=CA1980500381KMT5Bc.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=)
11g.68157998C>GCA381587870KMT5Bc.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
11g.68157998C>TCA6148022KMT5Bc.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
11g.68157999G>ACA381587874KMT5Bc.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
11g.68157999G>CCA381587881KMT5Bc.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)
11g.68157999G=CA1980500390KMT5Bc.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=)
11g.68157999G>TCA475514751KMT5Bc.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
11g.68158000T>ACA381587885KMT5Bc.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)
11g.68158000T>CCA475514752KMT5Bc.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=)
11g.68158000T>GCA381587888KMT5Bc.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)
11g.68158001T>ACA381587891KMT5Bc.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)
11g.68158001T>CCA381587894KMT5Bc.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)
11g.68158001T>GCA381587897KMT5Bc.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)
11g.68158002T>ACA381587900KMT5Bc.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)
11g.68158002T>CCA381587902KMT5Bc.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)
11g.68158002T>GCA381587905KMT5Bc.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)
11g.68158003T>ACA475514753KMT5Bc.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=)
11g.68158003T>CCA475514754KMT5Bc.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=)
11g.68158003T>GCA475514755KMT5Bc.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=)
11g.68158004A>CCA381587910KMT5Bc.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)
11g.68158004A>GCA381587909KMT5Bc.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)
11g.68158004A>TCA381587908KMT5Bc.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)
11g.68158005G>ACA475514756KMT5Bc.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=)
11g.68158005G>CCA381587914KMT5Bc.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)
11g.68158005G>TCA381587917KMT5Bc.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)
11g.68158006C>ACA381587919KMT5Bc.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)
11g.68158006C=CA1980500396KMT5Bc.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=)
11g.68158006C>GCA381587920KMT5Bc.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)
11g.68158006C>TCA475514757KMT5Bc.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
11g.68158007T>ACA381587922KMT5Bc.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)
11g.68158007T>CCA381587924KMT5Bc.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
11g.68158007T>GCA381587927KMT5Bc.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)
11g.68158007T=CA1980500398KMT5Bc.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=)
11g.68158008G>ACA381587930KMT5Bc.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)
11g.68158008G>CCA381587931KMT5Bc.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)
11g.68158008G>TCA381587934KMT5Bc.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)
11g.68158009G>ACA475514758KMT5Bc.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
11g.68158009G>CCA381587937KMT5Bc.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)
11g.68158009G=CA1980500403KMT5Bc.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=)
11g.68158009G>TCA475514759KMT5Bc.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=)
11g.68158010A>CCA381587942KMT5Bc.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)
11g.68158010A>GCA381587944KMT5Bc.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)
11g.68158010A>TCA381587939KMT5Bc.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)
11g.68158011T>ACA381587949KMT5Bc.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)
11g.68158011T>CCA381587950KMT5Bc.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
11g.68158011T>GCA381587953KMT5Bc.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)
11g.68158012T>ACA381587957KMT5Bc.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)
11g.68158012T>CCA475514760KMT5Bc.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=)
11g.68158012T>GCA381587961KMT5Bc.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)
11g.68158013T>ACA381587962KMT5Bc.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)
11g.68158013T>CCA381587965KMT5Bc.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
11g.68158013T>GCA381587968KMT5Bc.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)
11g.68158014T>ACA381587971KMT5Bc.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)
11g.68158014T>CCA381587974KMT5Bc.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
11g.68158014T>GCA381587977KMT5Bc.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
11g.68158014T=CA1980500408KMT5Bc.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=)
11g.68158015T>ACA381587980KMT5Bc.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
11g.68158015T>CCA6148023KMT5Bc.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
11g.68158015T>GCA381587978KMT5Bc.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)
11g.68158015T=CA1980500413KMT5Bc.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=)
11g.68158016A>CCA381587984KMT5Bc.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)
11g.68158016A>GCA381587987KMT5Bc.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
11g.68158016A>TCA381587989KMT5Bc.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)
11g.68158017A>CCA381587993KMT5Bc.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)
11g.68158017A>GCA475514761KMT5Bc.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=)
11g.68158017A>TCA381587996KMT5Bc.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)
11g.68158018T>ACA381588000KMT5Bc.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
11g.68158018T>CCA224248013KMT5Bc.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
11g.68158018T>GCA381587998KMT5Bc.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)
11g.68158018T=CA1980500415KMT5Bc.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=)
11g.68158019T>ACA381588003KMT5Bc.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)
11g.68158019T>CCA381588005KMT5Bc.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)
11g.68158019T>GCA381588006KMT5Bc.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
11g.68158020T>ACA381588007KMT5Bc.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)
11g.68158020T>CCA381588008KMT5Bc.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
11g.68158020T>GCA381588009KMT5Bc.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)
11g.68158021T>ACA475514762KMT5Bc.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=)
11g.68158021T>CCA475514763KMT5Bc.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=)
11g.68158021T>GCA475514764KMT5Bc.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=)
11g.68158022G>ACA381588016KMT5Bc.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)
11g.68158022G>CCA381588014KMT5Bc.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)
11g.68158022G>TCA381588012KMT5Bc.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)
11g.68158023T>ACA381588019KMT5Bc.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)
11g.68158023T>CCA381588024KMT5Bc.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)
11g.68158023T>GCA381588022KMT5Bc.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)
11g.68158024A>CCA475514765KMT5Bc.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=)
11g.68158024A>GCA475514766KMT5Bc.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=)
11g.68158024A>TCA475514767KMT5Bc.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=)
11g.68158025G>ACA381588027KMT5Bc.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)
11g.68158025G>CCA381588030KMT5Bc.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
11g.68158025G=CA1980500431KMT5Bc.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=)
11g.68158025G>TCA381588033KMT5Bc.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)
11g.68158026A>CCA381588035KMT5Bc.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)
11g.68158026A>GCA381588038KMT5Bc.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)
11g.68158026A>TCA381588040KMT5Bc.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)
11g.68158026_68158028delCA2724554195KMT5Bc.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
11g.68158027A>CCA381588042KMT5Bc.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)
11g.68158027A>GCA475514769KMT5Bc.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
11g.68158027A>TCA381588044KMT5Bc.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)
11g.68158028C>ACA381588047KMT5Bc.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)
11g.68158028C>GCA381588049KMT5Bc.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)
11g.68158028C>TCA381588052KMT5Bc.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)
11g.68158029T>ACA381588060KMT5Bc.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)
11g.68158029T>CCA381588056KMT5Bc.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)
11g.68158029T>GCA381588059KMT5Bc.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)
11g.68158030A>CCA381588063KMT5Bc.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)
11g.68158030A>GCA475514770KMT5Bc.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=)
11g.68158030A>TCA381588064KMT5Bc.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)
11g.68158031C>ACA381588068KMT5Bc.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)
11g.68158031C>GCA381588071KMT5Bc.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)
11g.68158031C>TCA381588073KMT5Bc.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)
11g.68158032T>ACA381588076KMT5Bc.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)
11g.68158032T>CCA381588078KMT5Bc.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)
11g.68158032T>GCA381588081KMT5Bc.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)
11g.68158033G>ACA475514771KMT5Bc.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
11g.68158033G>CCA475514772KMT5Bc.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=)
11g.68158033G=CA1980500437KMT5Bc.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=)
11g.68158033G>TCA475514773KMT5Bc.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=)
11g.68158034C>ACA381588084KMT5Bc.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)
11g.68158034C>GCA381588086KMT5Bc.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)
11g.68158034C>TCA381588089KMT5Bc.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
11g.68158035C>ACA381588094KMT5Bc.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)
11g.68158035C=CA1980500441KMT5Bc.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=)
11g.68158035C>GCA381588097KMT5Bc.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)
11g.68158035C>TCA6148024KMT5Bc.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
11g.68158036T>ACA475514776KMT5Bc.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=)
11g.68158036T>CCA475514777KMT5Bc.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
11g.68158036T>GCA475514779KMT5Bc.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=)
11g.68158037G>ACA381588100KMT5Bc.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)
11g.68158037G>CCA381588105KMT5Bc.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)
11g.68158037G>TCA381588106KMT5Bc.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)

Number of alleles fetched