Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
11g.68158038A>CCA381588109KMT5Bc.2095T>G (p.Ser699Ala)
n.2660T>G
c.*1932T>G (n.*1932T>G)
c.*1975T>G (n.*1975T>G)
c.1792T>G (p.Ser598Ala)
c.*1516T>G (n.*1516T>G)
c.2308T>G (p.Ser770Ala)
c.1588T>G (p.Ser530Ala)
c.2239T>G (p.Ser747Ala)
c.1066T>G (p.Ser356Ala)
11g.68158038A>GCA381588111KMT5Bc.2095T>C (p.Ser699Pro)
n.2660T>C
c.*1932T>C (n.*1932T>C)
c.*1975T>C (n.*1975T>C)
c.1792T>C (p.Ser598Pro)
c.*1516T>C (n.*1516T>C)
c.2308T>C (p.Ser770Pro)
c.1588T>C (p.Ser530Pro)
c.2239T>C (p.Ser747Pro)
c.1066T>C (p.Ser356Pro)
11g.68158038A>TCA381588114KMT5Bc.2095T>A (p.Ser699Thr)
n.2660T>A
c.*1932T>A (n.*1932T>A)
c.*1975T>A (n.*1975T>A)
c.1792T>A (p.Ser598Thr)
c.*1516T>A (n.*1516T>A)
c.2308T>A (p.Ser770Thr)
c.1588T>A (p.Ser530Thr)
c.2239T>A (p.Ser747Thr)
c.1066T>A (p.Ser356Thr)
11g.68158039T>ACA475514780KMT5Bc.2094A>T (p.Gly698=)
n.2659A>T
c.*1931A>T (n.*1931A>T)
c.*1974A>T (n.*1974A>T)
c.1791A>T (p.Gly597=)
c.*1515A>T (n.*1515A>T)
c.2307A>T (p.Gly769=)
c.1587A>T (p.Gly529=)
c.2238A>T (p.Gly746=)
c.1065A>T (p.Gly355=)
11g.68158039T>CCA475514782KMT5Bc.2094A>G (p.Gly698=)
n.2659A>G
c.*1931A>G (n.*1931A>G)
c.*1974A>G (n.*1974A>G)
c.1791A>G (p.Gly597=)
c.*1515A>G (n.*1515A>G)
c.2307A>G (p.Gly769=)
c.1587A>G (p.Gly529=)
c.2238A>G (p.Gly746=)
c.1065A>G (p.Gly355=)
11g.68158039T>GCA475514781KMT5Bc.2094A>C (p.Gly698=)
n.2659A>C
c.*1931A>C (n.*1931A>C)
c.*1974A>C (n.*1974A>C)
c.1791A>C (p.Gly597=)
c.*1515A>C (n.*1515A>C)
c.2307A>C (p.Gly769=)
c.1587A>C (p.Gly529=)
c.2238A>C (p.Gly746=)
c.1065A>C (p.Gly355=)
11g.68158040C>ACA381588117KMT5Bc.2093G>T (p.Gly698Val)
n.2658G>T
c.*1930G>T (n.*1930G>T)
c.*1973G>T (n.*1973G>T)
c.1790G>T (p.Gly597Val)
c.*1514G>T (n.*1514G>T)
c.2306G>T (p.Gly769Val)
c.1586G>T (p.Gly529Val)
c.2237G>T (p.Gly746Val)
c.1064G>T (p.Gly355Val)
11g.68158040C>GCA381588119KMT5Bc.2093G>C (p.Gly698Ala)
n.2658G>C
c.*1930G>C (n.*1930G>C)
c.*1973G>C (n.*1973G>C)
c.1790G>C (p.Gly597Ala)
c.*1514G>C (n.*1514G>C)
c.2306G>C (p.Gly769Ala)
c.1586G>C (p.Gly529Ala)
c.2237G>C (p.Gly746Ala)
c.1064G>C (p.Gly355Ala)
COSMIC COSMIC
11g.68158040C>TCA381588120KMT5Bc.2093G>A (p.Gly698Glu)
n.2658G>A
c.*1930G>A (n.*1930G>A)
c.*1973G>A (n.*1973G>A)
c.1790G>A (p.Gly597Glu)
c.*1514G>A (n.*1514G>A)
c.2306G>A (p.Gly769Glu)
c.1586G>A (p.Gly529Glu)
c.2237G>A (p.Gly746Glu)
c.1064G>A (p.Gly355Glu)
gnomAD v4
11g.68158041C>ACA381588121KMT5Bc.2092G>T (p.Gly698Ter)
n.2657G>T
c.*1929G>T (n.*1929G>T)
c.*1972G>T (n.*1972G>T)
c.1789G>T (p.Gly597Ter)
c.*1513G>T (n.*1513G>T)
c.2305G>T (p.Gly769Ter)
c.1585G>T (p.Gly529Ter)
c.2236G>T (p.Gly746Ter)
c.1063G>T (p.Gly355Ter)
11g.68158041C>GCA381588123KMT5Bc.2092G>C (p.Gly698Arg)
n.2657G>C
c.*1929G>C (n.*1929G>C)
c.*1972G>C (n.*1972G>C)
c.1789G>C (p.Gly597Arg)
c.*1513G>C (n.*1513G>C)
c.2305G>C (p.Gly769Arg)
c.1585G>C (p.Gly529Arg)
c.2236G>C (p.Gly746Arg)
c.1063G>C (p.Gly355Arg)
11g.68158041C>TCA381588126KMT5Bc.2092G>A (p.Gly698Arg)
n.2657G>A
c.*1929G>A (n.*1929G>A)
c.*1972G>A (n.*1972G>A)
c.1789G>A (p.Gly597Arg)
c.*1513G>A (n.*1513G>A)
c.2305G>A (p.Gly769Arg)
c.1585G>A (p.Gly529Arg)
c.2236G>A (p.Gly746Arg)
c.1063G>A (p.Gly355Arg)
11g.68158042T>ACA475514786KMT5Bc.2091A>T (p.Ser697=)
n.2656A>T
c.*1928A>T (n.*1928A>T)
c.*1971A>T (n.*1971A>T)
c.1788A>T (p.Ser596=)
c.*1512A>T (n.*1512A>T)
c.2304A>T (p.Ser768=)
c.1584A>T (p.Ser528=)
c.2235A>T (p.Ser745=)
c.1062A>T (p.Ser354=)
11g.68158042T>CCA475514787KMT5Bc.2091A>G (p.Ser697=)
n.2656A>G
c.*1928A>G (n.*1928A>G)
c.*1971A>G (n.*1971A>G)
c.1788A>G (p.Ser596=)
c.*1512A>G (n.*1512A>G)
c.2304A>G (p.Ser768=)
c.1584A>G (p.Ser528=)
c.2235A>G (p.Ser745=)
c.1062A>G (p.Ser354=)
11g.68158042T>GCA475514788KMT5Bc.2091A>C (p.Ser697=)
n.2656A>C
c.*1928A>C (n.*1928A>C)
c.*1971A>C (n.*1971A>C)
c.1788A>C (p.Ser596=)
c.*1512A>C (n.*1512A>C)
c.2304A>C (p.Ser768=)
c.1584A>C (p.Ser528=)
c.2235A>C (p.Ser745=)
c.1062A>C (p.Ser354=)
11g.68158043delCA2614700511KMT5Bc.2090del (p.Ser697Ter)
n.2655del
c.*1927del (n.*1927del)
c.*1970del (n.*1970del)
c.1787del (p.Ser596Ter)
c.*1511del (n.*1511del)
c.2303del (p.Ser768Ter)
c.1583del (p.Ser528Ter)
c.2234del (p.Ser745Ter)
c.1061del (p.Ser354Ter)
gnomAD v4
11g.68158043G>ACA6148025KMT5Bc.2090C>T (p.Ser697Leu)
n.2655C>T
c.*1927C>T (n.*1927C>T)
c.*1970C>T (n.*1970C>T)
c.1787C>T (p.Ser596Leu)
c.*1511C>T (n.*1511C>T)
c.2303C>T (p.Ser768Leu)
c.1583C>T (p.Ser528Leu)
c.2234C>T (p.Ser745Leu)
c.1061C>T (p.Ser354Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68158043G>CCA381588129KMT5Bc.2090C>G (p.Ser697Ter)
n.2655C>G
c.*1927C>G (n.*1927C>G)
c.*1970C>G (n.*1970C>G)
c.1787C>G (p.Ser596Ter)
c.*1511C>G (n.*1511C>G)
c.2303C>G (p.Ser768Ter)
c.1583C>G (p.Ser528Ter)
c.2234C>G (p.Ser745Ter)
c.1061C>G (p.Ser354Ter)
11g.68158043G=CA1980500447KMT5Bc.2090C= (p.Ser697=)
n.2655C=
c.*1927C= (n.*1927C=)
c.*1970C= (n.*1970C=)
c.1787C= (p.Ser596=)
c.*1511C= (n.*1511C=)
c.2303C= (p.Ser768=)
c.1583C= (p.Ser528=)
c.2234C= (p.Ser745=)
c.1061C= (p.Ser354=)
11g.68158043G>TCA381588128KMT5Bc.2090C>A (p.Ser697Ter)
n.2655C>A
c.*1927C>A (n.*1927C>A)
c.*1970C>A (n.*1970C>A)
c.1787C>A (p.Ser596Ter)
c.*1511C>A (n.*1511C>A)
c.2303C>A (p.Ser768Ter)
c.1583C>A (p.Ser528Ter)
c.2234C>A (p.Ser745Ter)
c.1061C>A (p.Ser354Ter)
11g.68158044A>CCA381588130KMT5Bc.2089T>G (p.Ser697Ala)
n.2654T>G
c.*1926T>G (n.*1926T>G)
c.*1969T>G (n.*1969T>G)
c.1786T>G (p.Ser596Ala)
c.*1510T>G (n.*1510T>G)
c.2302T>G (p.Ser768Ala)
c.1582T>G (p.Ser528Ala)
c.2233T>G (p.Ser745Ala)
c.1060T>G (p.Ser354Ala)
11g.68158044A>GCA381588131KMT5Bc.2089T>C (p.Ser697Pro)
n.2654T>C
c.*1926T>C (n.*1926T>C)
c.*1969T>C (n.*1969T>C)
c.1786T>C (p.Ser596Pro)
c.*1510T>C (n.*1510T>C)
c.2302T>C (p.Ser768Pro)
c.1582T>C (p.Ser528Pro)
c.2233T>C (p.Ser745Pro)
c.1060T>C (p.Ser354Pro)
gnomAD v4
11g.68158044A>TCA381588133KMT5Bc.2089T>A (p.Ser697Thr)
n.2654T>A
c.*1926T>A (n.*1926T>A)
c.*1969T>A (n.*1969T>A)
c.1786T>A (p.Ser596Thr)
c.*1510T>A (n.*1510T>A)
c.2302T>A (p.Ser768Thr)
c.1582T>A (p.Ser528Thr)
c.2233T>A (p.Ser745Thr)
c.1060T>A (p.Ser354Thr)
11g.68158045G>ACA475514790KMT5Bc.2088C>T (p.Asn696=)
n.2653C>T
c.*1925C>T (n.*1925C>T)
c.*1968C>T (n.*1968C>T)
c.1785C>T (p.Asn595=)
c.*1509C>T (n.*1509C>T)
c.2301C>T (p.Asn767=)
c.1581C>T (p.Asn527=)
c.2232C>T (p.Asn744=)
c.1059C>T (p.Asn353=)
11g.68158045G>CCA381588135KMT5Bc.2088C>G (p.Asn696Lys)
n.2653C>G
c.*1925C>G (n.*1925C>G)
c.*1968C>G (n.*1968C>G)
c.1785C>G (p.Asn595Lys)
c.*1509C>G (n.*1509C>G)
c.2301C>G (p.Asn767Lys)
c.1581C>G (p.Asn527Lys)
c.2232C>G (p.Asn744Lys)
c.1059C>G (p.Asn353Lys)
11g.68158045G>TCA381588136KMT5Bc.2088C>A (p.Asn696Lys)
n.2653C>A
c.*1925C>A (n.*1925C>A)
c.*1968C>A (n.*1968C>A)
c.1785C>A (p.Asn595Lys)
c.*1509C>A (n.*1509C>A)
c.2301C>A (p.Asn767Lys)
c.1581C>A (p.Asn527Lys)
c.2232C>A (p.Asn744Lys)
c.1059C>A (p.Asn353Lys)
11g.68158046T>ACA381588142KMT5Bc.2087A>T (p.Asn696Ile)
n.2652A>T
c.*1924A>T (n.*1924A>T)
c.*1967A>T (n.*1967A>T)
c.1784A>T (p.Asn595Ile)
c.*1508A>T (n.*1508A>T)
c.2300A>T (p.Asn767Ile)
c.1580A>T (p.Asn527Ile)
c.2231A>T (p.Asn744Ile)
c.1058A>T (p.Asn353Ile)
11g.68158046T>CCA381588139KMT5Bc.2087A>G (p.Asn696Ser)
n.2652A>G
c.*1924A>G (n.*1924A>G)
c.*1967A>G (n.*1967A>G)
c.1784A>G (p.Asn595Ser)
c.*1508A>G (n.*1508A>G)
c.2300A>G (p.Asn767Ser)
c.1580A>G (p.Asn527Ser)
c.2231A>G (p.Asn744Ser)
c.1058A>G (p.Asn353Ser)
11g.68158046T>GCA381588141KMT5Bc.2087A>C (p.Asn696Thr)
n.2652A>C
c.*1924A>C (n.*1924A>C)
c.*1967A>C (n.*1967A>C)
c.1784A>C (p.Asn595Thr)
c.*1508A>C (n.*1508A>C)
c.2300A>C (p.Asn767Thr)
c.1580A>C (p.Asn527Thr)
c.2231A>C (p.Asn744Thr)
c.1058A>C (p.Asn353Thr)
11g.68158047T>ACA381588143KMT5Bc.2086A>T (p.Asn696Tyr)
n.2651A>T
c.*1923A>T (n.*1923A>T)
c.*1966A>T (n.*1966A>T)
c.1783A>T (p.Asn595Tyr)
c.*1507A>T (n.*1507A>T)
c.2299A>T (p.Asn767Tyr)
c.1579A>T (p.Asn527Tyr)
c.2230A>T (p.Asn744Tyr)
c.1057A>T (p.Asn353Tyr)
11g.68158047T>CCA381588144KMT5Bc.2086A>G (p.Asn696Asp)
n.2651A>G
c.*1923A>G (n.*1923A>G)
c.*1966A>G (n.*1966A>G)
c.1783A>G (p.Asn595Asp)
c.*1507A>G (n.*1507A>G)
c.2299A>G (p.Asn767Asp)
c.1579A>G (p.Asn527Asp)
c.2230A>G (p.Asn744Asp)
c.1057A>G (p.Asn353Asp)
11g.68158047T>GCA381588145KMT5Bc.2086A>C (p.Asn696His)
n.2651A>C
c.*1923A>C (n.*1923A>C)
c.*1966A>C (n.*1966A>C)
c.1783A>C (p.Asn595His)
c.*1507A>C (n.*1507A>C)
c.2299A>C (p.Asn767His)
c.1579A>C (p.Asn527His)
c.2230A>C (p.Asn744His)
c.1057A>C (p.Asn353His)
11g.68158048A>CCA381588146KMT5Bc.2085T>G (p.Phe695Leu)
n.2650T>G
c.*1922T>G (n.*1922T>G)
c.*1965T>G (n.*1965T>G)
c.1782T>G (p.Phe594Leu)
c.*1506T>G (n.*1506T>G)
c.2298T>G (p.Phe766Leu)
c.1578T>G (p.Phe526Leu)
c.2229T>G (p.Phe743Leu)
c.1056T>G (p.Phe352Leu)
11g.68158048A>GCA475514793KMT5Bc.2085T>C (p.Phe695=)
n.2650T>C
c.*1922T>C (n.*1922T>C)
c.*1965T>C (n.*1965T>C)
c.1782T>C (p.Phe594=)
c.*1506T>C (n.*1506T>C)
c.2298T>C (p.Phe766=)
c.1578T>C (p.Phe526=)
c.2229T>C (p.Phe743=)
c.1056T>C (p.Phe352=)
11g.68158048A>TCA381588147KMT5Bc.2085T>A (p.Phe695Leu)
n.2650T>A
c.*1922T>A (n.*1922T>A)
c.*1965T>A (n.*1965T>A)
c.1782T>A (p.Phe594Leu)
c.*1506T>A (n.*1506T>A)
c.2298T>A (p.Phe766Leu)
c.1578T>A (p.Phe526Leu)
c.2229T>A (p.Phe743Leu)
c.1056T>A (p.Phe352Leu)
11g.68158049A>CCA381588152KMT5Bc.2084T>G (p.Phe695Cys)
n.2649T>G
c.*1921T>G (n.*1921T>G)
c.*1964T>G (n.*1964T>G)
c.1781T>G (p.Phe594Cys)
c.*1505T>G (n.*1505T>G)
c.2297T>G (p.Phe766Cys)
c.1577T>G (p.Phe526Cys)
c.2228T>G (p.Phe743Cys)
c.1055T>G (p.Phe352Cys)
11g.68158049A>GCA381588151KMT5Bc.2084T>C (p.Phe695Ser)
n.2649T>C
c.*1921T>C (n.*1921T>C)
c.*1964T>C (n.*1964T>C)
c.1781T>C (p.Phe594Ser)
c.*1505T>C (n.*1505T>C)
c.2297T>C (p.Phe766Ser)
c.1577T>C (p.Phe526Ser)
c.2228T>C (p.Phe743Ser)
c.1055T>C (p.Phe352Ser)
11g.68158049A>TCA381588149KMT5Bc.2084T>A (p.Phe695Tyr)
n.2649T>A
c.*1921T>A (n.*1921T>A)
c.*1964T>A (n.*1964T>A)
c.1781T>A (p.Phe594Tyr)
c.*1505T>A (n.*1505T>A)
c.2297T>A (p.Phe766Tyr)
c.1577T>A (p.Phe526Tyr)
c.2228T>A (p.Phe743Tyr)
c.1055T>A (p.Phe352Tyr)
11g.68158050A>CCA381588153KMT5Bc.2083T>G (p.Phe695Val)
n.2648T>G
c.*1920T>G (n.*1920T>G)
c.*1963T>G (n.*1963T>G)
c.1780T>G (p.Phe594Val)
c.*1504T>G (n.*1504T>G)
c.2296T>G (p.Phe766Val)
c.1576T>G (p.Phe526Val)
c.2227T>G (p.Phe743Val)
c.1054T>G (p.Phe352Val)
11g.68158050A>GCA381588155KMT5Bc.2083T>C (p.Phe695Leu)
n.2648T>C
c.*1920T>C (n.*1920T>C)
c.*1963T>C (n.*1963T>C)
c.1780T>C (p.Phe594Leu)
c.*1504T>C (n.*1504T>C)
c.2296T>C (p.Phe766Leu)
c.1576T>C (p.Phe526Leu)
c.2227T>C (p.Phe743Leu)
c.1054T>C (p.Phe352Leu)
11g.68158050A>TCA381588154KMT5Bc.2083T>A (p.Phe695Ile)
n.2648T>A
c.*1920T>A (n.*1920T>A)
c.*1963T>A (n.*1963T>A)
c.1780T>A (p.Phe594Ile)
c.*1504T>A (n.*1504T>A)
c.2296T>A (p.Phe766Ile)
c.1576T>A (p.Phe526Ile)
c.2227T>A (p.Phe743Ile)
c.1054T>A (p.Phe352Ile)
11g.68158051T>ACA475514797KMT5Bc.2082A>T (p.Gly694=)
n.2647A>T
c.*1919A>T (n.*1919A>T)
c.*1962A>T (n.*1962A>T)
c.1779A>T (p.Gly593=)
c.*1503A>T (n.*1503A>T)
c.2295A>T (p.Gly765=)
c.1575A>T (p.Gly525=)
c.2226A>T (p.Gly742=)
c.1053A>T (p.Gly351=)
11g.68158051T>CCA475514798KMT5Bc.2082A>G (p.Gly694=)
n.2647A>G
c.*1919A>G (n.*1919A>G)
c.*1962A>G (n.*1962A>G)
c.1779A>G (p.Gly593=)
c.*1503A>G (n.*1503A>G)
c.2295A>G (p.Gly765=)
c.1575A>G (p.Gly525=)
c.2226A>G (p.Gly742=)
c.1053A>G (p.Gly351=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68158051T>GCA475514799KMT5Bc.2082A>C (p.Gly694=)
n.2647A>C
c.*1919A>C (n.*1919A>C)
c.*1962A>C (n.*1962A>C)
c.1779A>C (p.Gly593=)
c.*1503A>C (n.*1503A>C)
c.2295A>C (p.Gly765=)
c.1575A>C (p.Gly525=)
c.2226A>C (p.Gly742=)
c.1053A>C (p.Gly351=)
11g.68158051T=CA1980500456KMT5Bc.2082A= (p.Gly694=)
n.2647A=
c.*1919A= (n.*1919A=)
c.*1962A= (n.*1962A=)
c.1779A= (p.Gly593=)
c.*1503A= (n.*1503A=)
c.2295A= (p.Gly765=)
c.1575A= (p.Gly525=)
c.2226A= (p.Gly742=)
c.1053A= (p.Gly351=)
11g.68158052C>ACA381588156KMT5Bc.2081G>T (p.Gly694Val)
n.2646G>T
c.*1918G>T (n.*1918G>T)
c.*1961G>T (n.*1961G>T)
c.1778G>T (p.Gly593Val)
c.*1502G>T (n.*1502G>T)
c.2294G>T (p.Gly765Val)
c.1574G>T (p.Gly525Val)
c.2225G>T (p.Gly742Val)
c.1052G>T (p.Gly351Val)
11g.68158052C>GCA381588157KMT5Bc.2081G>C (p.Gly694Ala)
n.2646G>C
c.*1918G>C (n.*1918G>C)
c.*1961G>C (n.*1961G>C)
c.1778G>C (p.Gly593Ala)
c.*1502G>C (n.*1502G>C)
c.2294G>C (p.Gly765Ala)
c.1574G>C (p.Gly525Ala)
c.2225G>C (p.Gly742Ala)
c.1052G>C (p.Gly351Ala)
11g.68158052C>TCA381588158KMT5Bc.2081G>A (p.Gly694Glu)
n.2646G>A
c.*1918G>A (n.*1918G>A)
c.*1961G>A (n.*1961G>A)
c.1778G>A (p.Gly593Glu)
c.*1502G>A (n.*1502G>A)
c.2294G>A (p.Gly765Glu)
c.1574G>A (p.Gly525Glu)
c.2225G>A (p.Gly742Glu)
c.1052G>A (p.Gly351Glu)
11g.68158053C>ACA381588159KMT5Bc.2080G>T (p.Gly694Ter)
n.2645G>T
c.*1917G>T (n.*1917G>T)
c.*1960G>T (n.*1960G>T)
c.1777G>T (p.Gly593Ter)
c.*1501G>T (n.*1501G>T)
c.2293G>T (p.Gly765Ter)
c.1573G>T (p.Gly525Ter)
c.2224G>T (p.Gly742Ter)
c.1051G>T (p.Gly351Ter)
11g.68158053C>GCA381588160KMT5Bc.2080G>C (p.Gly694Arg)
n.2645G>C
c.*1917G>C (n.*1917G>C)
c.*1960G>C (n.*1960G>C)
c.1777G>C (p.Gly593Arg)
c.*1501G>C (n.*1501G>C)
c.2293G>C (p.Gly765Arg)
c.1573G>C (p.Gly525Arg)
c.2224G>C (p.Gly742Arg)
c.1051G>C (p.Gly351Arg)
11g.68158053C>TCA381588161KMT5Bc.2080G>A (p.Gly694Arg)
n.2645G>A
c.*1917G>A (n.*1917G>A)
c.*1960G>A (n.*1960G>A)
c.1777G>A (p.Gly593Arg)
c.*1501G>A (n.*1501G>A)
c.2293G>A (p.Gly765Arg)
c.1573G>A (p.Gly525Arg)
c.2224G>A (p.Gly742Arg)
c.1051G>A (p.Gly351Arg)
11g.68158054A=CA1980500460KMT5Bc.2079T= (p.Asn693=)
n.2644T=
c.*1916T= (n.*1916T=)
c.*1959T= (n.*1959T=)
c.1776T= (p.Asn592=)
c.*1500T= (n.*1500T=)
c.2292T= (p.Asn764=)
c.1572T= (p.Asn524=)
c.2223T= (p.Asn741=)
c.1050T= (p.Asn350=)
11g.68158054A>CCA381588162KMT5Bc.2079T>G (p.Asn693Lys)
n.2644T>G
c.*1916T>G (n.*1916T>G)
c.*1959T>G (n.*1959T>G)
c.1776T>G (p.Asn592Lys)
c.*1500T>G (n.*1500T>G)
c.2292T>G (p.Asn764Lys)
c.1572T>G (p.Asn524Lys)
c.2223T>G (p.Asn741Lys)
c.1050T>G (p.Asn350Lys)
dbSNP
11g.68158054A>GCA475514801KMT5Bc.2079T>C (p.Asn693=)
n.2644T>C
c.*1916T>C (n.*1916T>C)
c.*1959T>C (n.*1959T>C)
c.1776T>C (p.Asn592=)
c.*1500T>C (n.*1500T>C)
c.2292T>C (p.Asn764=)
c.1572T>C (p.Asn524=)
c.2223T>C (p.Asn741=)
c.1050T>C (p.Asn350=)
gnomAD v4
11g.68158054A>TCA381588163KMT5Bc.2079T>A (p.Asn693Lys)
n.2644T>A
c.*1916T>A (n.*1916T>A)
c.*1959T>A (n.*1959T>A)
c.1776T>A (p.Asn592Lys)
c.*1500T>A (n.*1500T>A)
c.2292T>A (p.Asn764Lys)
c.1572T>A (p.Asn524Lys)
c.2223T>A (p.Asn741Lys)
c.1050T>A (p.Asn350Lys)
11g.68158055T>ACA381588164KMT5Bc.2078A>T (p.Asn693Ile)
n.2643A>T
c.*1915A>T (n.*1915A>T)
c.*1958A>T (n.*1958A>T)
c.1775A>T (p.Asn592Ile)
c.*1499A>T (n.*1499A>T)
c.2291A>T (p.Asn764Ile)
c.1571A>T (p.Asn524Ile)
c.2222A>T (p.Asn741Ile)
c.1049A>T (p.Asn350Ile)
11g.68158055T>CCA381588165KMT5Bc.2078A>G (p.Asn693Ser)
n.2643A>G
c.*1915A>G (n.*1915A>G)
c.*1958A>G (n.*1958A>G)
c.1775A>G (p.Asn592Ser)
c.*1499A>G (n.*1499A>G)
c.2291A>G (p.Asn764Ser)
c.1571A>G (p.Asn524Ser)
c.2222A>G (p.Asn741Ser)
c.1049A>G (p.Asn350Ser)
gnomAD v4
11g.68158055T>GCA381588166KMT5Bc.2078A>C (p.Asn693Thr)
n.2643A>C
c.*1915A>C (n.*1915A>C)
c.*1958A>C (n.*1958A>C)
c.1775A>C (p.Asn592Thr)
c.*1499A>C (n.*1499A>C)
c.2291A>C (p.Asn764Thr)
c.1571A>C (p.Asn524Thr)
c.2222A>C (p.Asn741Thr)
c.1049A>C (p.Asn350Thr)
11g.68158056T>ACA381588167KMT5Bc.2077A>T (p.Asn693Tyr)
n.2642A>T
c.*1914A>T (n.*1914A>T)
c.*1957A>T (n.*1957A>T)
c.1774A>T (p.Asn592Tyr)
c.*1498A>T (n.*1498A>T)
c.2290A>T (p.Asn764Tyr)
c.1570A>T (p.Asn524Tyr)
c.2221A>T (p.Asn741Tyr)
c.1048A>T (p.Asn350Tyr)
11g.68158056T>CCA381588168KMT5Bc.2077A>G (p.Asn693Asp)
n.2642A>G
c.*1914A>G (n.*1914A>G)
c.*1957A>G (n.*1957A>G)
c.1774A>G (p.Asn592Asp)
c.*1498A>G (n.*1498A>G)
c.2290A>G (p.Asn764Asp)
c.1570A>G (p.Asn524Asp)
c.2221A>G (p.Asn741Asp)
c.1048A>G (p.Asn350Asp)
11g.68158056T>GCA381588169KMT5Bc.2077A>C (p.Asn693His)
n.2642A>C
c.*1914A>C (n.*1914A>C)
c.*1957A>C (n.*1957A>C)
c.1774A>C (p.Asn592His)
c.*1498A>C (n.*1498A>C)
c.2290A>C (p.Asn764His)
c.1570A>C (p.Asn524His)
c.2221A>C (p.Asn741His)
c.1048A>C (p.Asn350His)
11g.68158057A>CCA381588171KMT5Bc.2076T>G (p.Asn692Lys)
n.2641T>G
c.*1913T>G (n.*1913T>G)
c.*1956T>G (n.*1956T>G)
c.1773T>G (p.Asn591Lys)
c.*1497T>G (n.*1497T>G)
c.2289T>G (p.Asn763Lys)
c.1569T>G (p.Asn523Lys)
c.2220T>G (p.Asn740Lys)
c.1047T>G (p.Asn349Lys)
11g.68158057A>GCA475514802KMT5Bc.2076T>C (p.Asn692=)
n.2641T>C
c.*1913T>C (n.*1913T>C)
c.*1956T>C (n.*1956T>C)
c.1773T>C (p.Asn591=)
c.*1497T>C (n.*1497T>C)
c.2289T>C (p.Asn763=)
c.1569T>C (p.Asn523=)
c.2220T>C (p.Asn740=)
c.1047T>C (p.Asn349=)
gnomAD v4
11g.68158057A>TCA381588173KMT5Bc.2076T>A (p.Asn692Lys)
n.2641T>A
c.*1913T>A (n.*1913T>A)
c.*1956T>A (n.*1956T>A)
c.1773T>A (p.Asn591Lys)
c.*1497T>A (n.*1497T>A)
c.2289T>A (p.Asn763Lys)
c.1569T>A (p.Asn523Lys)
c.2220T>A (p.Asn740Lys)
c.1047T>A (p.Asn349Lys)
11g.68158058T>ACA381588175KMT5Bc.2075A>T (p.Asn692Ile)
n.2640A>T
c.*1912A>T (n.*1912A>T)
c.*1955A>T (n.*1955A>T)
c.1772A>T (p.Asn591Ile)
c.*1496A>T (n.*1496A>T)
c.2288A>T (p.Asn763Ile)
c.1568A>T (p.Asn523Ile)
c.2219A>T (p.Asn740Ile)
c.1046A>T (p.Asn349Ile)
11g.68158058T>CCA381588177KMT5Bc.2075A>G (p.Asn692Ser)
n.2640A>G
c.*1912A>G (n.*1912A>G)
c.*1955A>G (n.*1955A>G)
c.1772A>G (p.Asn591Ser)
c.*1496A>G (n.*1496A>G)
c.2288A>G (p.Asn763Ser)
c.1568A>G (p.Asn523Ser)
c.2219A>G (p.Asn740Ser)
c.1046A>G (p.Asn349Ser)
dbSNP gnomAD v2 gnomAD v4
11g.68158058T>GCA381588179KMT5Bc.2075A>C (p.Asn692Thr)
n.2640A>C
c.*1912A>C (n.*1912A>C)
c.*1955A>C (n.*1955A>C)
c.1772A>C (p.Asn591Thr)
c.*1496A>C (n.*1496A>C)
c.2288A>C (p.Asn763Thr)
c.1568A>C (p.Asn523Thr)
c.2219A>C (p.Asn740Thr)
c.1046A>C (p.Asn349Thr)
11g.68158058T=CA1980500464KMT5Bc.2075A= (p.Asn692=)
n.2640A=
c.*1912A= (n.*1912A=)
c.*1955A= (n.*1955A=)
c.1772A= (p.Asn591=)
c.*1496A= (n.*1496A=)
c.2288A= (p.Asn763=)
c.1568A= (p.Asn523=)
c.2219A= (p.Asn740=)
c.1046A= (p.Asn349=)
11g.68158059T>ACA381588181KMT5Bc.2074A>T (p.Asn692Tyr)
n.2639A>T
c.*1911A>T (n.*1911A>T)
c.*1954A>T (n.*1954A>T)
c.1771A>T (p.Asn591Tyr)
c.*1495A>T (n.*1495A>T)
c.2287A>T (p.Asn763Tyr)
c.1567A>T (p.Asn523Tyr)
c.2218A>T (p.Asn740Tyr)
c.1045A>T (p.Asn349Tyr)
11g.68158059T>CCA224248021KMT5Bc.2074A>G (p.Asn692Asp)
n.2639A>G
c.*1911A>G (n.*1911A>G)
c.*1954A>G (n.*1954A>G)
c.1771A>G (p.Asn591Asp)
c.*1495A>G (n.*1495A>G)
c.2287A>G (p.Asn763Asp)
c.1567A>G (p.Asn523Asp)
c.2218A>G (p.Asn740Asp)
c.1045A>G (p.Asn349Asp)
dbSNP gnomAD v3 gnomAD v4
11g.68158059T>GCA381588184KMT5Bc.2074A>C (p.Asn692His)
n.2639A>C
c.*1911A>C (n.*1911A>C)
c.*1954A>C (n.*1954A>C)
c.1771A>C (p.Asn591His)
c.*1495A>C (n.*1495A>C)
c.2287A>C (p.Asn763His)
c.1567A>C (p.Asn523His)
c.2218A>C (p.Asn740His)
c.1045A>C (p.Asn349His)
11g.68158059T=CA1980500470KMT5Bc.2074A= (p.Asn692=)
n.2639A=
c.*1911A= (n.*1911A=)
c.*1954A= (n.*1954A=)
c.1771A= (p.Asn591=)
c.*1495A= (n.*1495A=)
c.2287A= (p.Asn763=)
c.1567A= (p.Asn523=)
c.2218A= (p.Asn740=)
c.1045A= (p.Asn349=)
11g.68158060A>CCA475514890KMT5Bc.2073T>G (p.Leu691=)
n.2638T>G
c.*1910T>G (n.*1910T>G)
c.*1953T>G (n.*1953T>G)
c.1770T>G (p.Leu590=)
c.*1494T>G (n.*1494T>G)
c.2286T>G (p.Leu762=)
c.1566T>G (p.Leu522=)
c.2217T>G (p.Leu739=)
c.1044T>G (p.Leu348=)
11g.68158060A>GCA475514891KMT5Bc.2073T>C (p.Leu691=)
n.2638T>C
c.*1910T>C (n.*1910T>C)
c.*1953T>C (n.*1953T>C)
c.1770T>C (p.Leu590=)
c.*1494T>C (n.*1494T>C)
c.2286T>C (p.Leu762=)
c.1566T>C (p.Leu522=)
c.2217T>C (p.Leu739=)
c.1044T>C (p.Leu348=)
11g.68158060A>TCA475514892KMT5Bc.2073T>A (p.Leu691=)
n.2638T>A
c.*1910T>A (n.*1910T>A)
c.*1953T>A (n.*1953T>A)
c.1770T>A (p.Leu590=)
c.*1494T>A (n.*1494T>A)
c.2286T>A (p.Leu762=)
c.1566T>A (p.Leu522=)
c.2217T>A (p.Leu739=)
c.1044T>A (p.Leu348=)
11g.68158061A=CA1980500473KMT5Bc.2072T= (p.Leu691=)
n.2637T=
c.*1909T= (n.*1909T=)
c.*1952T= (n.*1952T=)
c.1769T= (p.Leu590=)
c.*1493T= (n.*1493T=)
c.2285T= (p.Leu762=)
c.1565T= (p.Leu522=)
c.2216T= (p.Leu739=)
c.1043T= (p.Leu348=)
11g.68158061A>CCA381588186KMT5Bc.2072T>G (p.Leu691Arg)
n.2637T>G
c.*1909T>G (n.*1909T>G)
c.*1952T>G (n.*1952T>G)
c.1769T>G (p.Leu590Arg)
c.*1493T>G (n.*1493T>G)
c.2285T>G (p.Leu762Arg)
c.1565T>G (p.Leu522Arg)
c.2216T>G (p.Leu739Arg)
c.1043T>G (p.Leu348Arg)
11g.68158061A>GCA224248027KMT5Bc.2072T>C (p.Leu691Pro)
n.2637T>C
c.*1909T>C (n.*1909T>C)
c.*1952T>C (n.*1952T>C)
c.1769T>C (p.Leu590Pro)
c.*1493T>C (n.*1493T>C)
c.2285T>C (p.Leu762Pro)
c.1565T>C (p.Leu522Pro)
c.2216T>C (p.Leu739Pro)
c.1043T>C (p.Leu348Pro)
dbSNP gnomAD v4
11g.68158061A>TCA381588189KMT5Bc.2072T>A (p.Leu691His)
n.2637T>A
c.*1909T>A (n.*1909T>A)
c.*1952T>A (n.*1952T>A)
c.1769T>A (p.Leu590His)
c.*1493T>A (n.*1493T>A)
c.2285T>A (p.Leu762His)
c.1565T>A (p.Leu522His)
c.2216T>A (p.Leu739His)
c.1043T>A (p.Leu348His)
11g.68158062G>ACA224248029KMT5Bc.2071C>T (p.Leu691Phe)
n.2636C>T
c.*1908C>T (n.*1908C>T)
c.*1951C>T (n.*1951C>T)
c.1768C>T (p.Leu590Phe)
c.*1492C>T (n.*1492C>T)
c.2284C>T (p.Leu762Phe)
c.1564C>T (p.Leu522Phe)
c.2215C>T (p.Leu739Phe)
c.1042C>T (p.Leu348Phe)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68158062G>CCA381588191KMT5Bc.2071C>G (p.Leu691Val)
n.2636C>G
c.*1908C>G (n.*1908C>G)
c.*1951C>G (n.*1951C>G)
c.1768C>G (p.Leu590Val)
c.*1492C>G (n.*1492C>G)
c.2284C>G (p.Leu762Val)
c.1564C>G (p.Leu522Val)
c.2215C>G (p.Leu739Val)
c.1042C>G (p.Leu348Val)
11g.68158062G=CA1980500474KMT5Bc.2071C= (p.Leu691=)
n.2636C=
c.*1908C= (n.*1908C=)
c.*1951C= (n.*1951C=)
c.1768C= (p.Leu590=)
c.*1492C= (n.*1492C=)
c.2284C= (p.Leu762=)
c.1564C= (p.Leu522=)
c.2215C= (p.Leu739=)
c.1042C= (p.Leu348=)
11g.68158062G>TCA381588193KMT5Bc.2071C>A (p.Leu691Ile)
n.2636C>A
c.*1908C>A (n.*1908C>A)
c.*1951C>A (n.*1951C>A)
c.1768C>A (p.Leu590Ile)
c.*1492C>A (n.*1492C>A)
c.2284C>A (p.Leu762Ile)
c.1564C>A (p.Leu522Ile)
c.2215C>A (p.Leu739Ile)
c.1042C>A (p.Leu348Ile)
11g.68158063C>ACA381588195KMT5Bc.2070G>T (p.Lys690Asn)
n.2635G>T
c.*1907G>T (n.*1907G>T)
c.*1950G>T (n.*1950G>T)
c.1767G>T (p.Lys589Asn)
c.*1491G>T (n.*1491G>T)
c.2283G>T (p.Lys761Asn)
c.1563G>T (p.Lys521Asn)
c.2214G>T (p.Lys738Asn)
c.1041G>T (p.Lys347Asn)
COSMIC COSMIC
11g.68158063C>GCA381588197KMT5Bc.2070G>C (p.Lys690Asn)
n.2635G>C
c.*1907G>C (n.*1907G>C)
c.*1950G>C (n.*1950G>C)
c.1767G>C (p.Lys589Asn)
c.*1491G>C (n.*1491G>C)
c.2283G>C (p.Lys761Asn)
c.1563G>C (p.Lys521Asn)
c.2214G>C (p.Lys738Asn)
c.1041G>C (p.Lys347Asn)
11g.68158063C>TCA475514897KMT5Bc.2070G>A (p.Lys690=)
n.2635G>A
c.*1907G>A (n.*1907G>A)
c.*1950G>A (n.*1950G>A)
c.1767G>A (p.Lys589=)
c.*1491G>A (n.*1491G>A)
c.2283G>A (p.Lys761=)
c.1563G>A (p.Lys521=)
c.2214G>A (p.Lys738=)
c.1041G>A (p.Lys347=)
11g.68158064T>ACA381588199KMT5Bc.2069A>T (p.Lys690Met)
n.2634A>T
c.*1906A>T (n.*1906A>T)
c.*1949A>T (n.*1949A>T)
c.1766A>T (p.Lys589Met)
c.*1490A>T (n.*1490A>T)
c.2282A>T (p.Lys761Met)
c.1562A>T (p.Lys521Met)
c.2213A>T (p.Lys738Met)
c.1040A>T (p.Lys347Met)
11g.68158064T>CCA381588200KMT5Bc.2069A>G (p.Lys690Arg)
n.2634A>G
c.*1906A>G (n.*1906A>G)
c.*1949A>G (n.*1949A>G)
c.1766A>G (p.Lys589Arg)
c.*1490A>G (n.*1490A>G)
c.2282A>G (p.Lys761Arg)
c.1562A>G (p.Lys521Arg)
c.2213A>G (p.Lys738Arg)
c.1040A>G (p.Lys347Arg)
11g.68158064T>GCA381588202KMT5Bc.2069A>C (p.Lys690Thr)
n.2634A>C
c.*1906A>C (n.*1906A>C)
c.*1949A>C (n.*1949A>C)
c.1766A>C (p.Lys589Thr)
c.*1490A>C (n.*1490A>C)
c.2282A>C (p.Lys761Thr)
c.1562A>C (p.Lys521Thr)
c.2213A>C (p.Lys738Thr)
c.1040A>C (p.Lys347Thr)
11g.68158065T>ACA381588205KMT5Bc.2068A>T (p.Lys690Ter)
n.2633A>T
c.*1905A>T (n.*1905A>T)
c.*1948A>T (n.*1948A>T)
c.1765A>T (p.Lys589Ter)
c.*1489A>T (n.*1489A>T)
c.2281A>T (p.Lys761Ter)
c.1561A>T (p.Lys521Ter)
c.2212A>T (p.Lys738Ter)
c.1039A>T (p.Lys347Ter)
11g.68158065T>CCA381588207KMT5Bc.2068A>G (p.Lys690Glu)
n.2633A>G
c.*1905A>G (n.*1905A>G)
c.*1948A>G (n.*1948A>G)
c.1765A>G (p.Lys589Glu)
c.*1489A>G (n.*1489A>G)
c.2281A>G (p.Lys761Glu)
c.1561A>G (p.Lys521Glu)
c.2212A>G (p.Lys738Glu)
c.1039A>G (p.Lys347Glu)
11g.68158065T>GCA381588209KMT5Bc.2068A>C (p.Lys690Gln)
n.2633A>C
c.*1905A>C (n.*1905A>C)
c.*1948A>C (n.*1948A>C)
c.1765A>C (p.Lys589Gln)
c.*1489A>C (n.*1489A>C)
c.2281A>C (p.Lys761Gln)
c.1561A>C (p.Lys521Gln)
c.2212A>C (p.Lys738Gln)
c.1039A>C (p.Lys347Gln)
11g.68158066T>ACA475514898KMT5Bc.2067A>T (p.Ala689=)
n.2632A>T
c.*1904A>T (n.*1904A>T)
c.*1947A>T (n.*1947A>T)
c.1764A>T (p.Ala588=)
c.*1488A>T (n.*1488A>T)
c.2280A>T (p.Ala760=)
c.1560A>T (p.Ala520=)
c.2211A>T (p.Ala737=)
c.1038A>T (p.Ala346=)
11g.68158066T>CCA475514899KMT5Bc.2067A>G (p.Ala689=)
n.2632A>G
c.*1904A>G (n.*1904A>G)
c.*1947A>G (n.*1947A>G)
c.1764A>G (p.Ala588=)
c.*1488A>G (n.*1488A>G)
c.2280A>G (p.Ala760=)
c.1560A>G (p.Ala520=)
c.2211A>G (p.Ala737=)
c.1038A>G (p.Ala346=)
11g.68158066T>GCA475514900KMT5Bc.2067A>C (p.Ala689=)
n.2632A>C
c.*1904A>C (n.*1904A>C)
c.*1947A>C (n.*1947A>C)
c.1764A>C (p.Ala588=)
c.*1488A>C (n.*1488A>C)
c.2280A>C (p.Ala760=)
c.1560A>C (p.Ala520=)
c.2211A>C (p.Ala737=)
c.1038A>C (p.Ala346=)
11g.68158067G>ACA381588216KMT5Bc.2066C>T (p.Ala689Val)
n.2631C>T
c.*1903C>T (n.*1903C>T)
c.*1946C>T (n.*1946C>T)
c.1763C>T (p.Ala588Val)
c.*1487C>T (n.*1487C>T)
c.2279C>T (p.Ala760Val)
c.1559C>T (p.Ala520Val)
c.2210C>T (p.Ala737Val)
c.1037C>T (p.Ala346Val)
11g.68158067G>CCA381588214KMT5Bc.2066C>G (p.Ala689Gly)
n.2631C>G
c.*1903C>G (n.*1903C>G)
c.*1946C>G (n.*1946C>G)
c.1763C>G (p.Ala588Gly)
c.*1487C>G (n.*1487C>G)
c.2279C>G (p.Ala760Gly)
c.1559C>G (p.Ala520Gly)
c.2210C>G (p.Ala737Gly)
c.1037C>G (p.Ala346Gly)
11g.68158067G>TCA381588212KMT5Bc.2066C>A (p.Ala689Glu)
n.2631C>A
c.*1903C>A (n.*1903C>A)
c.*1946C>A (n.*1946C>A)
c.1763C>A (p.Ala588Glu)
c.*1487C>A (n.*1487C>A)
c.2279C>A (p.Ala760Glu)
c.1559C>A (p.Ala520Glu)
c.2210C>A (p.Ala737Glu)
c.1037C>A (p.Ala346Glu)
11g.68158068C>ACA381588218KMT5Bc.2065G>T (p.Ala689Ser)
n.2630G>T
c.*1902G>T (n.*1902G>T)
c.*1945G>T (n.*1945G>T)
c.1762G>T (p.Ala588Ser)
c.*1486G>T (n.*1486G>T)
c.2278G>T (p.Ala760Ser)
c.1558G>T (p.Ala520Ser)
c.2209G>T (p.Ala737Ser)
c.1036G>T (p.Ala346Ser)
11g.68158068C=CA1980500476KMT5Bc.2065G= (p.Ala689=)
n.2630G=
c.*1902G= (n.*1902G=)
c.*1945G= (n.*1945G=)
c.1762G= (p.Ala588=)
c.*1486G= (n.*1486G=)
c.2278G= (p.Ala760=)
c.1558G= (p.Ala520=)
c.2209G= (p.Ala737=)
c.1036G= (p.Ala346=)
11g.68158068C>GCA381588220KMT5Bc.2065G>C (p.Ala689Pro)
n.2630G>C
c.*1902G>C (n.*1902G>C)
c.*1945G>C (n.*1945G>C)
c.1762G>C (p.Ala588Pro)
c.*1486G>C (n.*1486G>C)
c.2278G>C (p.Ala760Pro)
c.1558G>C (p.Ala520Pro)
c.2209G>C (p.Ala737Pro)
c.1036G>C (p.Ala346Pro)
11g.68158068C>TCA6148026KMT5Bc.2065G>A (p.Ala689Thr)
n.2630G>A
c.*1902G>A (n.*1902G>A)
c.*1945G>A (n.*1945G>A)
c.1762G>A (p.Ala588Thr)
c.*1486G>A (n.*1486G>A)
c.2278G>A (p.Ala760Thr)
c.1558G>A (p.Ala520Thr)
c.2209G>A (p.Ala737Thr)
c.1036G>A (p.Ala346Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.68158069T>ACA475514902KMT5Bc.2064A>T (p.Val688=)
n.2629A>T
c.*1901A>T (n.*1901A>T)
c.*1944A>T (n.*1944A>T)
c.1761A>T (p.Val587=)
c.*1485A>T (n.*1485A>T)
c.2277A>T (p.Val759=)
c.1557A>T (p.Val519=)
c.2208A>T (p.Val736=)
c.1035A>T (p.Val345=)
11g.68158069T>CCA475514904KMT5Bc.2064A>G (p.Val688=)
n.2629A>G
c.*1901A>G (n.*1901A>G)
c.*1944A>G (n.*1944A>G)
c.1761A>G (p.Val587=)
c.*1485A>G (n.*1485A>G)
c.2277A>G (p.Val759=)
c.1557A>G (p.Val519=)
c.2208A>G (p.Val736=)
c.1035A>G (p.Val345=)
11g.68158069T>GCA475514903KMT5Bc.2064A>C (p.Val688=)
n.2629A>C
c.*1901A>C (n.*1901A>C)
c.*1944A>C (n.*1944A>C)
c.1761A>C (p.Val587=)
c.*1485A>C (n.*1485A>C)
c.2277A>C (p.Val759=)
c.1557A>C (p.Val519=)
c.2208A>C (p.Val736=)
c.1035A>C (p.Val345=)
11g.68158070A>CCA381588223KMT5Bc.2063T>G (p.Val688Gly)
n.2628T>G
c.*1900T>G (n.*1900T>G)
c.*1943T>G (n.*1943T>G)
c.1760T>G (p.Val587Gly)
c.*1484T>G (n.*1484T>G)
c.2276T>G (p.Val759Gly)
c.1556T>G (p.Val519Gly)
c.2207T>G (p.Val736Gly)
c.1034T>G (p.Val345Gly)
11g.68158070A>GCA381588225KMT5Bc.2063T>C (p.Val688Ala)
n.2628T>C
c.*1900T>C (n.*1900T>C)
c.*1943T>C (n.*1943T>C)
c.1760T>C (p.Val587Ala)
c.*1484T>C (n.*1484T>C)
c.2276T>C (p.Val759Ala)
c.1556T>C (p.Val519Ala)
c.2207T>C (p.Val736Ala)
c.1034T>C (p.Val345Ala)
11g.68158070A>TCA381588227KMT5Bc.2063T>A (p.Val688Glu)
n.2628T>A
c.*1900T>A (n.*1900T>A)
c.*1943T>A (n.*1943T>A)
c.1760T>A (p.Val587Glu)
c.*1484T>A (n.*1484T>A)
c.2276T>A (p.Val759Glu)
c.1556T>A (p.Val519Glu)
c.2207T>A (p.Val736Glu)
c.1034T>A (p.Val345Glu)
11g.68158071C>ACA381588229KMT5Bc.2062G>T (p.Val688Leu)
n.2627G>T
c.*1899G>T (n.*1899G>T)
c.*1942G>T (n.*1942G>T)
c.1759G>T (p.Val587Leu)
c.*1483G>T (n.*1483G>T)
c.2275G>T (p.Val759Leu)
c.1555G>T (p.Val519Leu)
c.2206G>T (p.Val736Leu)
c.1033G>T (p.Val345Leu)
11g.68158071C>GCA381588232KMT5Bc.2062G>C (p.Val688Leu)
n.2627G>C
c.*1899G>C (n.*1899G>C)
c.*1942G>C (n.*1942G>C)
c.1759G>C (p.Val587Leu)
c.*1483G>C (n.*1483G>C)
c.2275G>C (p.Val759Leu)
c.1555G>C (p.Val519Leu)
c.2206G>C (p.Val736Leu)
c.1033G>C (p.Val345Leu)
11g.68158071C>TCA381588231KMT5Bc.2062G>A (p.Val688Ile)
n.2627G>A
c.*1899G>A (n.*1899G>A)
c.*1942G>A (n.*1942G>A)
c.1759G>A (p.Val587Ile)
c.*1483G>A (n.*1483G>A)
c.2275G>A (p.Val759Ile)
c.1555G>A (p.Val519Ile)
c.2206G>A (p.Val736Ile)
c.1033G>A (p.Val345Ile)
11g.68158071_68158073delinsCATCA1980500479KMT5Bc.2060_2062delinsATG (p.Tyr687=)
n.2625_2627delinsATG
c.*1897_*1899delinsATG (n.*1897_*1899delinsATG)
c.*1940_*1942delinsATG (n.*1940_*1942delinsATG)
c.1757_1759delinsATG (p.Tyr586=)
c.*1481_*1483delinsATG (n.*1481_*1483delinsATG)
c.2273_2275delinsATG (p.Tyr758=)
c.1553_1555delinsATG (p.Tyr518=)
c.2204_2206delinsATG (p.Tyr735=)
c.1031_1033delinsATG (p.Tyr344=)
11g.68158072A>CCA381588234KMT5Bc.2061T>G (p.Tyr687Ter)
n.2626T>G
c.*1898T>G (n.*1898T>G)
c.*1941T>G (n.*1941T>G)
c.1758T>G (p.Tyr586Ter)
c.*1482T>G (n.*1482T>G)
c.2274T>G (p.Tyr758Ter)
c.1554T>G (p.Tyr518Ter)
c.2205T>G (p.Tyr735Ter)
c.1032T>G (p.Tyr344Ter)
11g.68158072A>GCA475514908KMT5Bc.2061T>C (p.Tyr687=)
n.2626T>C
c.*1898T>C (n.*1898T>C)
c.*1941T>C (n.*1941T>C)
c.1758T>C (p.Tyr586=)
c.*1482T>C (n.*1482T>C)
c.2274T>C (p.Tyr758=)
c.1554T>C (p.Tyr518=)
c.2205T>C (p.Tyr735=)
c.1032T>C (p.Tyr344=)
gnomAD v4
11g.68158072A>TCA381588236KMT5Bc.2061T>A (p.Tyr687Ter)
n.2626T>A
c.*1898T>A (n.*1898T>A)
c.*1941T>A (n.*1941T>A)
c.1758T>A (p.Tyr586Ter)
c.*1482T>A (n.*1482T>A)
c.2274T>A (p.Tyr758Ter)
c.1554T>A (p.Tyr518Ter)
c.2205T>A (p.Tyr735Ter)
c.1032T>A (p.Tyr344Ter)
gnomAD v4
11g.68158073_68158074delCA600238786KMT5Bc.2060_2061del (p.Tyr687CysfsTer5)
n.2625_2626del
c.*1897_*1898del (n.*1897_*1898del)
c.*1940_*1941del (n.*1940_*1941del)
c.1757_1758del (p.Tyr586CysfsTer5)
c.*1481_*1482del (n.*1481_*1482del)
c.2273_2274del (p.Tyr758CysfsTer5)
c.1553_1554del (p.Tyr518CysfsTer5)
c.2204_2205del (p.Tyr735CysfsTer5)
c.1031_1032del (p.Tyr344CysfsTer5)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68158073T>ACA381588238KMT5Bc.2060A>T (p.Tyr687Phe)
n.2625A>T
c.*1897A>T (n.*1897A>T)
c.*1940A>T (n.*1940A>T)
c.1757A>T (p.Tyr586Phe)
c.*1481A>T (n.*1481A>T)
c.2273A>T (p.Tyr758Phe)
c.1553A>T (p.Tyr518Phe)
c.2204A>T (p.Tyr735Phe)
c.1031A>T (p.Tyr344Phe)
11g.68158073T>CCA6148027KMT5Bc.2060A>G (p.Tyr687Cys)
n.2625A>G
c.*1897A>G (n.*1897A>G)
c.*1940A>G (n.*1940A>G)
c.1757A>G (p.Tyr586Cys)
c.*1481A>G (n.*1481A>G)
c.2273A>G (p.Tyr758Cys)
c.1553A>G (p.Tyr518Cys)
c.2204A>G (p.Tyr735Cys)
c.1031A>G (p.Tyr344Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68158073T>GCA381588239KMT5Bc.2060A>C (p.Tyr687Ser)
n.2625A>C
c.*1897A>C (n.*1897A>C)
c.*1940A>C (n.*1940A>C)
c.1757A>C (p.Tyr586Ser)
c.*1481A>C (n.*1481A>C)
c.2273A>C (p.Tyr758Ser)
c.1553A>C (p.Tyr518Ser)
c.2204A>C (p.Tyr735Ser)
c.1031A>C (p.Tyr344Ser)
11g.68158073T=CA1980500483KMT5Bc.2060A= (p.Tyr687=)
n.2625A=
c.*1897A= (n.*1897A=)
c.*1940A= (n.*1940A=)
c.1757A= (p.Tyr586=)
c.*1481A= (n.*1481A=)
c.2273A= (p.Tyr758=)
c.1553A= (p.Tyr518=)
c.2204A= (p.Tyr735=)
c.1031A= (p.Tyr344=)
11g.68158074A>CCA381588242KMT5Bc.2059T>G (p.Tyr687Asp)
n.2624T>G
c.*1896T>G (n.*1896T>G)
c.*1939T>G (n.*1939T>G)
c.1756T>G (p.Tyr586Asp)
c.*1480T>G (n.*1480T>G)
c.2272T>G (p.Tyr758Asp)
c.1552T>G (p.Tyr518Asp)
c.2203T>G (p.Tyr735Asp)
c.1030T>G (p.Tyr344Asp)
gnomAD v4
11g.68158074A>GCA381588244KMT5Bc.2059T>C (p.Tyr687His)
n.2624T>C
c.*1896T>C (n.*1896T>C)
c.*1939T>C (n.*1939T>C)
c.1756T>C (p.Tyr586His)
c.*1480T>C (n.*1480T>C)
c.2272T>C (p.Tyr758His)
c.1552T>C (p.Tyr518His)
c.2203T>C (p.Tyr735His)
c.1030T>C (p.Tyr344His)
gnomAD v4 COSMIC
11g.68158074A>TCA381588246KMT5Bc.2059T>A (p.Tyr687Asn)
n.2624T>A
c.*1896T>A (n.*1896T>A)
c.*1939T>A (n.*1939T>A)
c.1756T>A (p.Tyr586Asn)
c.*1480T>A (n.*1480T>A)
c.2272T>A (p.Tyr758Asn)
c.1552T>A (p.Tyr518Asn)
c.2203T>A (p.Tyr735Asn)
c.1030T>A (p.Tyr344Asn)
11g.68158077_68158078delCA2614700531KMT5Bc.2058_2059del (p.Tyr687CysfsTer5)
n.2623_2624del
c.*1895_*1896del (n.*1895_*1896del)
c.*1938_*1939del (n.*1938_*1939del)
c.1755_1756del (p.Tyr586CysfsTer5)
c.*1479_*1480del (n.*1479_*1480del)
c.2271_2272del (p.Tyr758CysfsTer5)
c.1551_1552del (p.Tyr518CysfsTer5)
c.2202_2203del (p.Tyr735CysfsTer5)
c.1029_1030del (p.Tyr344CysfsTer5)
gnomAD v4
11g.68158075G>ACA475514914KMT5Bc.2058C>T (p.Leu686=)
n.2623C>T
c.*1895C>T (n.*1895C>T)
c.*1938C>T (n.*1938C>T)
c.1755C>T (p.Leu585=)
c.*1479C>T (n.*1479C>T)
c.2271C>T (p.Leu757=)
c.1551C>T (p.Leu517=)
c.2202C>T (p.Leu734=)
c.1029C>T (p.Leu343=)
11g.68158075G>CCA475514916KMT5Bc.2058C>G (p.Leu686=)
n.2623C>G
c.*1895C>G (n.*1895C>G)
c.*1938C>G (n.*1938C>G)
c.1755C>G (p.Leu585=)
c.*1479C>G (n.*1479C>G)
c.2271C>G (p.Leu757=)
c.1551C>G (p.Leu517=)
c.2202C>G (p.Leu734=)
c.1029C>G (p.Leu343=)
gnomAD v4
11g.68158075G>TCA475514917KMT5Bc.2058C>A (p.Leu686=)
n.2623C>A
c.*1895C>A (n.*1895C>A)
c.*1938C>A (n.*1938C>A)
c.1755C>A (p.Leu585=)
c.*1479C>A (n.*1479C>A)
c.2271C>A (p.Leu757=)
c.1551C>A (p.Leu517=)
c.2202C>A (p.Leu734=)
c.1029C>A (p.Leu343=)
11g.68158076delCA2573053552KMT5Bc.2057del (p.Leu686ProfsTer3)
n.2622del
c.*1894del (n.*1894del)
c.*1937del (n.*1937del)
c.1754del (p.Leu585ProfsTer3)
c.*1478del (n.*1478del)
c.2270del (p.Leu757ProfsTer3)
c.1550del (p.Leu517ProfsTer3)
c.2201del (p.Leu734ProfsTer3)
c.1028del (p.Leu343ProfsTer3)
ClinVar dbSNP
11g.68158076A>CCA381588248KMT5Bc.2057T>G (p.Leu686Arg)
n.2622T>G
c.*1894T>G (n.*1894T>G)
c.*1937T>G (n.*1937T>G)
c.1754T>G (p.Leu585Arg)
c.*1478T>G (n.*1478T>G)
c.2270T>G (p.Leu757Arg)
c.1550T>G (p.Leu517Arg)
c.2201T>G (p.Leu734Arg)
c.1028T>G (p.Leu343Arg)
gnomAD v4
11g.68158076A>GCA381588251KMT5Bc.2057T>C (p.Leu686Pro)
n.2622T>C
c.*1894T>C (n.*1894T>C)
c.*1937T>C (n.*1937T>C)
c.1754T>C (p.Leu585Pro)
c.*1478T>C (n.*1478T>C)
c.2270T>C (p.Leu757Pro)
c.1550T>C (p.Leu517Pro)
c.2201T>C (p.Leu734Pro)
c.1028T>C (p.Leu343Pro)
11g.68158076A>TCA381588253KMT5Bc.2057T>A (p.Leu686His)
n.2622T>A
c.*1894T>A (n.*1894T>A)
c.*1937T>A (n.*1937T>A)
c.1754T>A (p.Leu585His)
c.*1478T>A (n.*1478T>A)
c.2270T>A (p.Leu757His)
c.1550T>A (p.Leu517His)
c.2201T>A (p.Leu734His)
c.1028T>A (p.Leu343His)
11g.68158077G>ACA381588255KMT5Bc.2056C>T (p.Leu686Phe)
n.2621C>T
c.*1893C>T (n.*1893C>T)
c.*1936C>T (n.*1936C>T)
c.1753C>T (p.Leu585Phe)
c.*1477C>T (n.*1477C>T)
c.2269C>T (p.Leu757Phe)
c.1549C>T (p.Leu517Phe)
c.2200C>T (p.Leu734Phe)
c.1027C>T (p.Leu343Phe)
11g.68158077G>CCA381588258KMT5Bc.2056C>G (p.Leu686Val)
n.2621C>G
c.*1893C>G (n.*1893C>G)
c.*1936C>G (n.*1936C>G)
c.1753C>G (p.Leu585Val)
c.*1477C>G (n.*1477C>G)
c.2269C>G (p.Leu757Val)
c.1549C>G (p.Leu517Val)
c.2200C>G (p.Leu734Val)
c.1027C>G (p.Leu343Val)
11g.68158077G>TCA381588257KMT5Bc.2056C>A (p.Leu686Ile)
n.2621C>A
c.*1893C>A (n.*1893C>A)
c.*1936C>A (n.*1936C>A)
c.1753C>A (p.Leu585Ile)
c.*1477C>A (n.*1477C>A)
c.2269C>A (p.Leu757Ile)
c.1549C>A (p.Leu517Ile)
c.2200C>A (p.Leu734Ile)
c.1027C>A (p.Leu343Ile)
11g.68158078A>CCA381588260KMT5Bc.2055T>G (p.Asn685Lys)
n.2620T>G
c.*1892T>G (n.*1892T>G)
c.*1935T>G (n.*1935T>G)
c.1752T>G (p.Asn584Lys)
c.*1476T>G (n.*1476T>G)
c.2268T>G (p.Asn756Lys)
c.1548T>G (p.Asn516Lys)
c.2199T>G (p.Asn733Lys)
c.1026T>G (p.Asn342Lys)
11g.68158078A>GCA475514918KMT5Bc.2055T>C (p.Asn685=)
n.2620T>C
c.*1892T>C (n.*1892T>C)
c.*1935T>C (n.*1935T>C)
c.1752T>C (p.Asn584=)
c.*1476T>C (n.*1476T>C)
c.2268T>C (p.Asn756=)
c.1548T>C (p.Asn516=)
c.2199T>C (p.Asn733=)
c.1026T>C (p.Asn342=)
11g.68158078A>TCA381588262KMT5Bc.2055T>A (p.Asn685Lys)
n.2620T>A
c.*1892T>A (n.*1892T>A)
c.*1935T>A (n.*1935T>A)
c.1752T>A (p.Asn584Lys)
c.*1476T>A (n.*1476T>A)
c.2268T>A (p.Asn756Lys)
c.1548T>A (p.Asn516Lys)
c.2199T>A (p.Asn733Lys)
c.1026T>A (p.Asn342Lys)
11g.68158079T>ACA381588264KMT5Bc.2054A>T (p.Asn685Ile)
n.2619A>T
c.*1891A>T (n.*1891A>T)
c.*1934A>T (n.*1934A>T)
c.1751A>T (p.Asn584Ile)
c.*1475A>T (n.*1475A>T)
c.2267A>T (p.Asn756Ile)
c.1547A>T (p.Asn516Ile)
c.2198A>T (p.Asn733Ile)
c.1025A>T (p.Asn342Ile)
11g.68158079T>CCA6148028KMT5Bc.2054A>G (p.Asn685Ser)
n.2619A>G
c.*1891A>G (n.*1891A>G)
c.*1934A>G (n.*1934A>G)
c.1751A>G (p.Asn584Ser)
c.*1475A>G (n.*1475A>G)
c.2267A>G (p.Asn756Ser)
c.1547A>G (p.Asn516Ser)
c.2198A>G (p.Asn733Ser)
c.1025A>G (p.Asn342Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68158079T>GCA381588266KMT5Bc.2054A>C (p.Asn685Thr)
n.2619A>C
c.*1891A>C (n.*1891A>C)
c.*1934A>C (n.*1934A>C)
c.1751A>C (p.Asn584Thr)
c.*1475A>C (n.*1475A>C)
c.2267A>C (p.Asn756Thr)
c.1547A>C (p.Asn516Thr)
c.2198A>C (p.Asn733Thr)
c.1025A>C (p.Asn342Thr)
11g.68158079T=CA1980500487KMT5Bc.2054A= (p.Asn685=)
n.2619A=
c.*1891A= (n.*1891A=)
c.*1934A= (n.*1934A=)
c.1751A= (p.Asn584=)
c.*1475A= (n.*1475A=)
c.2267A= (p.Asn756=)
c.1547A= (p.Asn516=)
c.2198A= (p.Asn733=)
c.1025A= (p.Asn342=)
11g.68158080T>ACA381588269KMT5Bc.2053A>T (p.Asn685Tyr)
n.2618A>T
c.*1890A>T (n.*1890A>T)
c.*1933A>T (n.*1933A>T)
c.1750A>T (p.Asn584Tyr)
c.*1474A>T (n.*1474A>T)
c.2266A>T (p.Asn756Tyr)
c.1546A>T (p.Asn516Tyr)
c.2197A>T (p.Asn733Tyr)
c.1024A>T (p.Asn342Tyr)
11g.68158080T>CCA381588270KMT5Bc.2053A>G (p.Asn685Asp)
n.2618A>G
c.*1890A>G (n.*1890A>G)
c.*1933A>G (n.*1933A>G)
c.1750A>G (p.Asn584Asp)
c.*1474A>G (n.*1474A>G)
c.2266A>G (p.Asn756Asp)
c.1546A>G (p.Asn516Asp)
c.2197A>G (p.Asn733Asp)
c.1024A>G (p.Asn342Asp)
11g.68158080T>GCA381588272KMT5Bc.2053A>C (p.Asn685His)
n.2618A>C
c.*1890A>C (n.*1890A>C)
c.*1933A>C (n.*1933A>C)
c.1750A>C (p.Asn584His)
c.*1474A>C (n.*1474A>C)
c.2266A>C (p.Asn756His)
c.1546A>C (p.Asn516His)
c.2197A>C (p.Asn733His)
c.1024A>C (p.Asn342His)
11g.68158081G>ACA475514921KMT5Bc.2052C>T (p.Asn684=)
n.2617C>T
c.*1889C>T (n.*1889C>T)
c.*1932C>T (n.*1932C>T)
c.1749C>T (p.Asn583=)
c.*1473C>T (n.*1473C>T)
c.2265C>T (p.Asn755=)
c.1545C>T (p.Asn515=)
c.2196C>T (p.Asn732=)
c.1023C>T (p.Asn341=)
11g.68158081G>CCA381588274KMT5Bc.2052C>G (p.Asn684Lys)
n.2617C>G
c.*1889C>G (n.*1889C>G)
c.*1932C>G (n.*1932C>G)
c.1749C>G (p.Asn583Lys)
c.*1473C>G (n.*1473C>G)
c.2265C>G (p.Asn755Lys)
c.1545C>G (p.Asn515Lys)
c.2196C>G (p.Asn732Lys)
c.1023C>G (p.Asn341Lys)
11g.68158081G>TCA381588276KMT5Bc.2052C>A (p.Asn684Lys)
n.2617C>A
c.*1889C>A (n.*1889C>A)
c.*1932C>A (n.*1932C>A)
c.1749C>A (p.Asn583Lys)
c.*1473C>A (n.*1473C>A)
c.2265C>A (p.Asn755Lys)
c.1545C>A (p.Asn515Lys)
c.2196C>A (p.Asn732Lys)
c.1023C>A (p.Asn341Lys)
11g.68158082T>ACA381588278KMT5Bc.2051A>T (p.Asn684Ile)
n.2616A>T
c.*1888A>T (n.*1888A>T)
c.*1931A>T (n.*1931A>T)
c.1748A>T (p.Asn583Ile)
c.*1472A>T (n.*1472A>T)
c.2264A>T (p.Asn755Ile)
c.1544A>T (p.Asn515Ile)
c.2195A>T (p.Asn732Ile)
c.1022A>T (p.Asn341Ile)
11g.68158082T>CCA6148029KMT5Bc.2051A>G (p.Asn684Ser)
n.2616A>G
c.*1888A>G (n.*1888A>G)
c.*1931A>G (n.*1931A>G)
c.1748A>G (p.Asn583Ser)
c.*1472A>G (n.*1472A>G)
c.2264A>G (p.Asn755Ser)
c.1544A>G (p.Asn515Ser)
c.2195A>G (p.Asn732Ser)
c.1022A>G (p.Asn341Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.68158082T>GCA381588279KMT5Bc.2051A>C (p.Asn684Thr)
n.2616A>C
c.*1888A>C (n.*1888A>C)
c.*1931A>C (n.*1931A>C)
c.1748A>C (p.Asn583Thr)
c.*1472A>C (n.*1472A>C)
c.2264A>C (p.Asn755Thr)
c.1544A>C (p.Asn515Thr)
c.2195A>C (p.Asn732Thr)
c.1022A>C (p.Asn341Thr)
11g.68158082T=CA1980500494KMT5Bc.2051A= (p.Asn684=)
n.2616A=
c.*1888A= (n.*1888A=)
c.*1931A= (n.*1931A=)
c.1748A= (p.Asn583=)
c.*1472A= (n.*1472A=)
c.2264A= (p.Asn755=)
c.1544A= (p.Asn515=)
c.2195A= (p.Asn732=)
c.1022A= (p.Asn341=)
11g.68158083T>ACA381588285KMT5Bc.2050A>T (p.Asn684Tyr)
n.2615A>T
c.*1887A>T (n.*1887A>T)
c.*1930A>T (n.*1930A>T)
c.1747A>T (p.Asn583Tyr)
c.*1471A>T (n.*1471A>T)
c.2263A>T (p.Asn755Tyr)
c.1543A>T (p.Asn515Tyr)
c.2194A>T (p.Asn732Tyr)
c.1021A>T (p.Asn341Tyr)
11g.68158083T>CCA381588282KMT5Bc.2050A>G (p.Asn684Asp)
n.2615A>G
c.*1887A>G (n.*1887A>G)
c.*1930A>G (n.*1930A>G)
c.1747A>G (p.Asn583Asp)
c.*1471A>G (n.*1471A>G)
c.2263A>G (p.Asn755Asp)
c.1543A>G (p.Asn515Asp)
c.2194A>G (p.Asn732Asp)
c.1021A>G (p.Asn341Asp)
gnomAD v4
11g.68158083T>GCA381588283KMT5Bc.2050A>C (p.Asn684His)
n.2615A>C
c.*1887A>C (n.*1887A>C)
c.*1930A>C (n.*1930A>C)
c.1747A>C (p.Asn583His)
c.*1471A>C (n.*1471A>C)
c.2263A>C (p.Asn755His)
c.1543A>C (p.Asn515His)
c.2194A>C (p.Asn732His)
c.1021A>C (p.Asn341His)
11g.68158084A>CCA381588287KMT5Bc.2049T>G (p.Asp683Glu)
n.2614T>G
c.*1886T>G (n.*1886T>G)
c.*1929T>G (n.*1929T>G)
c.1746T>G (p.Asp582Glu)
c.*1470T>G (n.*1470T>G)
c.2262T>G (p.Asp754Glu)
c.1542T>G (p.Asp514Glu)
c.2193T>G (p.Asp731Glu)
c.1020T>G (p.Asp340Glu)
11g.68158084A>GCA475514924KMT5Bc.2049T>C (p.Asp683=)
n.2614T>C
c.*1886T>C (n.*1886T>C)
c.*1929T>C (n.*1929T>C)
c.1746T>C (p.Asp582=)
c.*1470T>C (n.*1470T>C)
c.2262T>C (p.Asp754=)
c.1542T>C (p.Asp514=)
c.2193T>C (p.Asp731=)
c.1020T>C (p.Asp340=)
11g.68158084A>TCA381588289KMT5Bc.2049T>A (p.Asp683Glu)
n.2614T>A
c.*1886T>A (n.*1886T>A)
c.*1929T>A (n.*1929T>A)
c.1746T>A (p.Asp582Glu)
c.*1470T>A (n.*1470T>A)
c.2262T>A (p.Asp754Glu)
c.1542T>A (p.Asp514Glu)
c.2193T>A (p.Asp731Glu)
c.1020T>A (p.Asp340Glu)
11g.68158085T>ACA381588291KMT5Bc.2048A>T (p.Asp683Val)
n.2613A>T
c.*1885A>T (n.*1885A>T)
c.*1928A>T (n.*1928A>T)
c.1745A>T (p.Asp582Val)
c.*1469A>T (n.*1469A>T)
c.2261A>T (p.Asp754Val)
c.1541A>T (p.Asp514Val)
c.2192A>T (p.Asp731Val)
c.1019A>T (p.Asp340Val)
gnomAD v4
11g.68158085T>CCA381588293KMT5Bc.2048A>G (p.Asp683Gly)
n.2613A>G
c.*1885A>G (n.*1885A>G)
c.*1928A>G (n.*1928A>G)
c.1745A>G (p.Asp582Gly)
c.*1469A>G (n.*1469A>G)
c.2261A>G (p.Asp754Gly)
c.1541A>G (p.Asp514Gly)
c.2192A>G (p.Asp731Gly)
c.1019A>G (p.Asp340Gly)
dbSNP gnomAD v3 gnomAD v4
11g.68158085T>GCA381588294KMT5Bc.2048A>C (p.Asp683Ala)
n.2613A>C
c.*1885A>C (n.*1885A>C)
c.*1928A>C (n.*1928A>C)
c.1745A>C (p.Asp582Ala)
c.*1469A>C (n.*1469A>C)
c.2261A>C (p.Asp754Ala)
c.1541A>C (p.Asp514Ala)
c.2192A>C (p.Asp731Ala)
c.1019A>C (p.Asp340Ala)
11g.68158085T=CA1980500506KMT5Bc.2048A= (p.Asp683=)
n.2613A=
c.*1885A= (n.*1885A=)
c.*1928A= (n.*1928A=)
c.1745A= (p.Asp582=)
c.*1469A= (n.*1469A=)
c.2261A= (p.Asp754=)
c.1541A= (p.Asp514=)
c.2192A= (p.Asp731=)
c.1019A= (p.Asp340=)
11g.68158086delCA2695214893KMT5Bc.2047del (p.Asp683IlefsTer6)
n.2612del
c.*1884del (n.*1884del)
c.*1927del (n.*1927del)
c.1744del (p.Asp582IlefsTer6)
c.*1468del (n.*1468del)
c.2260del (p.Asp754IlefsTer6)
c.1540del (p.Asp514IlefsTer6)
c.2191del (p.Asp731IlefsTer6)
c.1018del (p.Asp340IlefsTer6)
11g.68158086C>ACA381588296KMT5Bc.2047G>T (p.Asp683Tyr)
n.2612G>T
c.*1884G>T (n.*1884G>T)
c.*1927G>T (n.*1927G>T)
c.1744G>T (p.Asp582Tyr)
c.*1468G>T (n.*1468G>T)
c.2260G>T (p.Asp754Tyr)
c.1540G>T (p.Asp514Tyr)
c.2191G>T (p.Asp731Tyr)
c.1018G>T (p.Asp340Tyr)
11g.68158086C=CA1980500513KMT5Bc.2047G= (p.Asp683=)
n.2612G=
c.*1884G= (n.*1884G=)
c.*1927G= (n.*1927G=)
c.1744G= (p.Asp582=)
c.*1468G= (n.*1468G=)
c.2260G= (p.Asp754=)
c.1540G= (p.Asp514=)
c.2191G= (p.Asp731=)
c.1018G= (p.Asp340=)
11g.68158086C>GCA381588298KMT5Bc.2047G>C (p.Asp683His)
n.2612G>C
c.*1884G>C (n.*1884G>C)
c.*1927G>C (n.*1927G>C)
c.1744G>C (p.Asp582His)
c.*1468G>C (n.*1468G>C)
c.2260G>C (p.Asp754His)
c.1540G>C (p.Asp514His)
c.2191G>C (p.Asp731His)
c.1018G>C (p.Asp340His)
11g.68158086C>TCA6148030KMT5Bc.2047G>A (p.Asp683Asn)
n.2612G>A
c.*1884G>A (n.*1884G>A)
c.*1927G>A (n.*1927G>A)
c.1744G>A (p.Asp582Asn)
c.*1468G>A (n.*1468G>A)
c.2260G>A (p.Asp754Asn)
c.1540G>A (p.Asp514Asn)
c.2191G>A (p.Asp731Asn)
c.1018G>A (p.Asp340Asn)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.68158087G>ACA6148031KMT5Bc.2046C>T (p.Asn682=)
n.2611C>T
c.*1883C>T (n.*1883C>T)
c.*1926C>T (n.*1926C>T)
c.1743C>T (p.Asn581=)
c.*1467C>T (n.*1467C>T)
c.2259C>T (p.Asn753=)
c.1539C>T (p.Asn513=)
c.2190C>T (p.Asn730=)
c.1017C>T (p.Asn339=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.68158087G>CCA381588302KMT5Bc.2046C>G (p.Asn682Lys)
n.2611C>G
c.*1883C>G (n.*1883C>G)
c.*1926C>G (n.*1926C>G)
c.1743C>G (p.Asn581Lys)
c.*1467C>G (n.*1467C>G)
c.2259C>G (p.Asn753Lys)
c.1539C>G (p.Asn513Lys)
c.2190C>G (p.Asn730Lys)
c.1017C>G (p.Asn339Lys)
11g.68158087G=CA1980500523KMT5Bc.2046C= (p.Asn682=)
n.2611C=
c.*1883C= (n.*1883C=)
c.*1926C= (n.*1926C=)
c.1743C= (p.Asn581=)
c.*1467C= (n.*1467C=)
c.2259C= (p.Asn753=)
c.1539C= (p.Asn513=)
c.2190C= (p.Asn730=)
c.1017C= (p.Asn339=)
11g.68158087G>TCA381588304KMT5Bc.2046C>A (p.Asn682Lys)
n.2611C>A
c.*1883C>A (n.*1883C>A)
c.*1926C>A (n.*1926C>A)
c.1743C>A (p.Asn581Lys)
c.*1467C>A (n.*1467C>A)
c.2259C>A (p.Asn753Lys)
c.1539C>A (p.Asn513Lys)
c.2190C>A (p.Asn730Lys)
c.1017C>A (p.Asn339Lys)
11g.68158089_68158091delCA2574900138KMT5Bc.2044_2046del (p.Asn682del)
n.2609_2611del
c.*1881_*1883del (n.*1881_*1883del)
c.*1924_*1926del (n.*1924_*1926del)
c.1741_1743del (p.Asn581del)
c.*1465_*1467del (n.*1465_*1467del)
c.2257_2259del (p.Asn753del)
c.1537_1539del (p.Asn513del)
c.2188_2190del (p.Asn730del)
c.1015_1017del (p.Asn339del)
11g.68158088T>ACA381588308KMT5Bc.2045A>T (p.Asn682Ile)
n.2610A>T
c.*1882A>T (n.*1882A>T)
c.*1925A>T (n.*1925A>T)
c.1742A>T (p.Asn581Ile)
c.*1466A>T (n.*1466A>T)
c.2258A>T (p.Asn753Ile)
c.1538A>T (p.Asn513Ile)
c.2189A>T (p.Asn730Ile)
c.1016A>T (p.Asn339Ile)
11g.68158088T>CCA224248129KMT5Bc.2045A>G (p.Asn682Ser)
n.2610A>G
c.*1882A>G (n.*1882A>G)
c.*1925A>G (n.*1925A>G)
c.1742A>G (p.Asn581Ser)
c.*1466A>G (n.*1466A>G)
c.2258A>G (p.Asn753Ser)
c.1538A>G (p.Asn513Ser)
c.2189A>G (p.Asn730Ser)
c.1016A>G (p.Asn339Ser)
dbSNP gnomAD v3 gnomAD v4
11g.68158088T>GCA381588306KMT5Bc.2045A>C (p.Asn682Thr)
n.2610A>C
c.*1882A>C (n.*1882A>C)
c.*1925A>C (n.*1925A>C)
c.1742A>C (p.Asn581Thr)
c.*1466A>C (n.*1466A>C)
c.2258A>C (p.Asn753Thr)
c.1538A>C (p.Asn513Thr)
c.2189A>C (p.Asn730Thr)
c.1016A>C (p.Asn339Thr)
11g.68158088T=CA1980500528KMT5Bc.2045A= (p.Asn682=)
n.2610A=
c.*1882A= (n.*1882A=)
c.*1925A= (n.*1925A=)
c.1742A= (p.Asn581=)
c.*1466A= (n.*1466A=)
c.2258A= (p.Asn753=)
c.1538A= (p.Asn513=)
c.2189A= (p.Asn730=)
c.1016A= (p.Asn339=)
11g.68158089T>ACA381588310KMT5Bc.2044A>T (p.Asn682Tyr)
n.2609A>T
c.*1881A>T (n.*1881A>T)
c.*1924A>T (n.*1924A>T)
c.1741A>T (p.Asn581Tyr)
c.*1465A>T (n.*1465A>T)
c.2257A>T (p.Asn753Tyr)
c.1537A>T (p.Asn513Tyr)
c.2188A>T (p.Asn730Tyr)
c.1015A>T (p.Asn339Tyr)
11g.68158089T>CCA381588312KMT5Bc.2044A>G (p.Asn682Asp)
n.2609A>G
c.*1881A>G (n.*1881A>G)
c.*1924A>G (n.*1924A>G)
c.1741A>G (p.Asn581Asp)
c.*1465A>G (n.*1465A>G)
c.2257A>G (p.Asn753Asp)
c.1537A>G (p.Asn513Asp)
c.2188A>G (p.Asn730Asp)
c.1015A>G (p.Asn339Asp)
11g.68158089T>GCA381588314KMT5Bc.2044A>C (p.Asn682His)
n.2609A>C
c.*1881A>C (n.*1881A>C)
c.*1924A>C (n.*1924A>C)
c.1741A>C (p.Asn581His)
c.*1465A>C (n.*1465A>C)
c.2257A>C (p.Asn753His)
c.1537A>C (p.Asn513His)
c.2188A>C (p.Asn730His)
c.1015A>C (p.Asn339His)
11g.68158090G>ACA475514929KMT5Bc.2043C>T (p.Asp681=)
n.2608C>T
c.*1880C>T (n.*1880C>T)
c.*1923C>T (n.*1923C>T)
c.1740C>T (p.Asp580=)
c.*1464C>T (n.*1464C>T)
c.2256C>T (p.Asp752=)
c.1536C>T (p.Asp512=)
c.2187C>T (p.Asp729=)
c.1014C>T (p.Asp338=)
11g.68158090G>CCA381588315KMT5Bc.2043C>G (p.Asp681Glu)
n.2608C>G
c.*1880C>G (n.*1880C>G)
c.*1923C>G (n.*1923C>G)
c.1740C>G (p.Asp580Glu)
c.*1464C>G (n.*1464C>G)
c.2256C>G (p.Asp752Glu)
c.1536C>G (p.Asp512Glu)
c.2187C>G (p.Asp729Glu)
c.1014C>G (p.Asp338Glu)
gnomAD v4
11g.68158090G>TCA381588318KMT5Bc.2043C>A (p.Asp681Glu)
n.2608C>A
c.*1880C>A (n.*1880C>A)
c.*1923C>A (n.*1923C>A)
c.1740C>A (p.Asp580Glu)
c.*1464C>A (n.*1464C>A)
c.2256C>A (p.Asp752Glu)
c.1536C>A (p.Asp512Glu)
c.2187C>A (p.Asp729Glu)
c.1014C>A (p.Asp338Glu)
11g.68158091T>ACA381588320KMT5Bc.2042A>T (p.Asp681Val)
n.2607A>T
c.*1879A>T (n.*1879A>T)
c.*1922A>T (n.*1922A>T)
c.1739A>T (p.Asp580Val)
c.*1463A>T (n.*1463A>T)
c.2255A>T (p.Asp752Val)
c.1535A>T (p.Asp512Val)
c.2186A>T (p.Asp729Val)
c.1013A>T (p.Asp338Val)
11g.68158091T>CCA6148032KMT5Bc.2042A>G (p.Asp681Gly)
n.2607A>G
c.*1879A>G (n.*1879A>G)
c.*1922A>G (n.*1922A>G)
c.1739A>G (p.Asp580Gly)
c.*1463A>G (n.*1463A>G)
c.2255A>G (p.Asp752Gly)
c.1535A>G (p.Asp512Gly)
c.2186A>G (p.Asp729Gly)
c.1013A>G (p.Asp338Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.68158091T>GCA381588323KMT5Bc.2042A>C (p.Asp681Ala)
n.2607A>C
c.*1879A>C (n.*1879A>C)
c.*1922A>C (n.*1922A>C)
c.1739A>C (p.Asp580Ala)
c.*1463A>C (n.*1463A>C)
c.2255A>C (p.Asp752Ala)
c.1535A>C (p.Asp512Ala)
c.2186A>C (p.Asp729Ala)
c.1013A>C (p.Asp338Ala)
11g.68158091T=CA1980500530KMT5Bc.2042A= (p.Asp681=)
n.2607A=
c.*1879A= (n.*1879A=)
c.*1922A= (n.*1922A=)
c.1739A= (p.Asp580=)
c.*1463A= (n.*1463A=)
c.2255A= (p.Asp752=)
c.1535A= (p.Asp512=)
c.2186A= (p.Asp729=)
c.1013A= (p.Asp338=)
11g.68158092C>ACA381588325KMT5Bc.2041G>T (p.Asp681Tyr)
n.2606G>T
c.*1878G>T (n.*1878G>T)
c.*1921G>T (n.*1921G>T)
c.1738G>T (p.Asp580Tyr)
c.*1462G>T (n.*1462G>T)
c.2254G>T (p.Asp752Tyr)
c.1534G>T (p.Asp512Tyr)
c.2185G>T (p.Asp729Tyr)
c.1012G>T (p.Asp338Tyr)
11g.68158092C>GCA381588327KMT5Bc.2041G>C (p.Asp681His)
n.2606G>C
c.*1878G>C (n.*1878G>C)
c.*1921G>C (n.*1921G>C)
c.1738G>C (p.Asp580His)
c.*1462G>C (n.*1462G>C)
c.2254G>C (p.Asp752His)
c.1534G>C (p.Asp512His)
c.2185G>C (p.Asp729His)
c.1012G>C (p.Asp338His)
11g.68158092C>TCA381588329KMT5Bc.2041G>A (p.Asp681Asn)
n.2606G>A
c.*1878G>A (n.*1878G>A)
c.*1921G>A (n.*1921G>A)
c.1738G>A (p.Asp580Asn)
c.*1462G>A (n.*1462G>A)
c.2254G>A (p.Asp752Asn)
c.1534G>A (p.Asp512Asn)
c.2185G>A (p.Asp729Asn)
c.1012G>A (p.Asp338Asn)
gnomAD v4
11g.68158093A=CA1980500533KMT5Bc.2040T= (p.His680=)
n.2605T=
c.*1877T= (n.*1877T=)
c.*1920T= (n.*1920T=)
c.1737T= (p.His579=)
c.*1461T= (n.*1461T=)
c.2253T= (p.His751=)
c.1533T= (p.His511=)
c.2184T= (p.His728=)
c.1011T= (p.His337=)
11g.68158093A>CCA381588331KMT5Bc.2040T>G (p.His680Gln)
n.2605T>G
c.*1877T>G (n.*1877T>G)
c.*1920T>G (n.*1920T>G)
c.1737T>G (p.His579Gln)
c.*1461T>G (n.*1461T>G)
c.2253T>G (p.His751Gln)
c.1533T>G (p.His511Gln)
c.2184T>G (p.His728Gln)
c.1011T>G (p.His337Gln)
11g.68158093A>GCA224248159KMT5Bc.2040T>C (p.His680=)
n.2605T>C
c.*1877T>C (n.*1877T>C)
c.*1920T>C (n.*1920T>C)
c.1737T>C (p.His579=)
c.*1461T>C (n.*1461T>C)
c.2253T>C (p.His751=)
c.1533T>C (p.His511=)
c.2184T>C (p.His728=)
c.1011T>C (p.His337=)
dbSNP gnomAD v2 gnomAD v4
11g.68158093A>TCA381588333KMT5Bc.2040T>A (p.His680Gln)
n.2605T>A
c.*1877T>A (n.*1877T>A)
c.*1920T>A (n.*1920T>A)
c.1737T>A (p.His579Gln)
c.*1461T>A (n.*1461T>A)
c.2253T>A (p.His751Gln)
c.1533T>A (p.His511Gln)
c.2184T>A (p.His728Gln)
c.1011T>A (p.His337Gln)
11g.68158094T>ACA381588338KMT5Bc.2039A>T (p.His680Leu)
n.2604A>T
c.*1876A>T (n.*1876A>T)
c.*1919A>T (n.*1919A>T)
c.1736A>T (p.His579Leu)
c.*1460A>T (n.*1460A>T)
c.2252A>T (p.His751Leu)
c.1532A>T (p.His511Leu)
c.2183A>T (p.His728Leu)
c.1010A>T (p.His337Leu)
11g.68158094T>CCA381588336KMT5Bc.2039A>G (p.His680Arg)
n.2604A>G
c.*1876A>G (n.*1876A>G)
c.*1919A>G (n.*1919A>G)
c.1736A>G (p.His579Arg)
c.*1460A>G (n.*1460A>G)
c.2252A>G (p.His751Arg)
c.1532A>G (p.His511Arg)
c.2183A>G (p.His728Arg)
c.1010A>G (p.His337Arg)
gnomAD v4
11g.68158094T>GCA381588335KMT5Bc.2039A>C (p.His680Pro)
n.2604A>C
c.*1876A>C (n.*1876A>C)
c.*1919A>C (n.*1919A>C)
c.1736A>C (p.His579Pro)
c.*1460A>C (n.*1460A>C)
c.2252A>C (p.His751Pro)
c.1532A>C (p.His511Pro)
c.2183A>C (p.His728Pro)
c.1010A>C (p.His337Pro)
11g.68158095G>ACA381588339KMT5Bc.2038C>T (p.His680Tyr)
n.2603C>T
c.*1875C>T (n.*1875C>T)
c.*1918C>T (n.*1918C>T)
c.1735C>T (p.His579Tyr)
c.*1459C>T (n.*1459C>T)
c.2251C>T (p.His751Tyr)
c.1531C>T (p.His511Tyr)
c.2182C>T (p.His728Tyr)
c.1009C>T (p.His337Tyr)
11g.68158095G>CCA381588340KMT5Bc.2038C>G (p.His680Asp)
n.2603C>G
c.*1875C>G (n.*1875C>G)
c.*1918C>G (n.*1918C>G)
c.1735C>G (p.His579Asp)
c.*1459C>G (n.*1459C>G)
c.2251C>G (p.His751Asp)
c.1531C>G (p.His511Asp)
c.2182C>G (p.His728Asp)
c.1009C>G (p.His337Asp)
dbSNP gnomAD v2 gnomAD v4
11g.68158095G=CA1980500535KMT5Bc.2038C= (p.His680=)
n.2603C=
c.*1875C= (n.*1875C=)
c.*1918C= (n.*1918C=)
c.1735C= (p.His579=)
c.*1459C= (n.*1459C=)
c.2251C= (p.His751=)
c.1531C= (p.His511=)
c.2182C= (p.His728=)
c.1009C= (p.His337=)
11g.68158095G>TCA6148033KMT5Bc.2038C>A (p.His680Asn)
n.2603C>A
c.*1875C>A (n.*1875C>A)
c.*1918C>A (n.*1918C>A)
c.1735C>A (p.His579Asn)
c.*1459C>A (n.*1459C>A)
c.2251C>A (p.His751Asn)
c.1531C>A (p.His511Asn)
c.2182C>A (p.His728Asn)
c.1009C>A (p.His337Asn)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.68158096G>ACA475514934KMT5Bc.2037C>T (p.Asp679=)
n.2602C>T
c.*1874C>T (n.*1874C>T)
c.*1917C>T (n.*1917C>T)
c.1734C>T (p.Asp578=)
c.*1458C>T (n.*1458C>T)
c.2250C>T (p.Asp750=)
c.1530C>T (p.Asp510=)
c.2181C>T (p.Asp727=)
c.1008C>T (p.Asp336=)
dbSNP
11g.68158096G>CCA381588341KMT5Bc.2037C>G (p.Asp679Glu)
n.2602C>G
c.*1874C>G (n.*1874C>G)
c.*1917C>G (n.*1917C>G)
c.1734C>G (p.Asp578Glu)
c.*1458C>G (n.*1458C>G)
c.2250C>G (p.Asp750Glu)
c.1530C>G (p.Asp510Glu)
c.2181C>G (p.Asp727Glu)
c.1008C>G (p.Asp336Glu)
11g.68158096G=CA1980500539KMT5Bc.2037C= (p.Asp679=)
n.2602C=
c.*1874C= (n.*1874C=)
c.*1917C= (n.*1917C=)
c.1734C= (p.Asp578=)
c.*1458C= (n.*1458C=)
c.2250C= (p.Asp750=)
c.1530C= (p.Asp510=)
c.2181C= (p.Asp727=)
c.1008C= (p.Asp336=)
11g.68158096G>TCA381588342KMT5Bc.2037C>A (p.Asp679Glu)
n.2602C>A
c.*1874C>A (n.*1874C>A)
c.*1917C>A (n.*1917C>A)
c.1734C>A (p.Asp578Glu)
c.*1458C>A (n.*1458C>A)
c.2250C>A (p.Asp750Glu)
c.1530C>A (p.Asp510Glu)
c.2181C>A (p.Asp727Glu)
c.1008C>A (p.Asp336Glu)
11g.68158097T>ACA381588345KMT5Bc.2036A>T (p.Asp679Val)
n.2601A>T
c.*1873A>T (n.*1873A>T)
c.*1916A>T (n.*1916A>T)
c.1733A>T (p.Asp578Val)
c.*1457A>T (n.*1457A>T)
c.2249A>T (p.Asp750Val)
c.1529A>T (p.Asp510Val)
c.2180A>T (p.Asp727Val)
c.1007A>T (p.Asp336Val)
11g.68158097T>CCA381588347KMT5Bc.2036A>G (p.Asp679Gly)
n.2601A>G
c.*1873A>G (n.*1873A>G)
c.*1916A>G (n.*1916A>G)
c.1733A>G (p.Asp578Gly)
c.*1457A>G (n.*1457A>G)
c.2249A>G (p.Asp750Gly)
c.1529A>G (p.Asp510Gly)
c.2180A>G (p.Asp727Gly)
c.1007A>G (p.Asp336Gly)
11g.68158097T>GCA381588349KMT5Bc.2036A>C (p.Asp679Ala)
n.2601A>C
c.*1873A>C (n.*1873A>C)
c.*1916A>C (n.*1916A>C)
c.1733A>C (p.Asp578Ala)
c.*1457A>C (n.*1457A>C)
c.2249A>C (p.Asp750Ala)
c.1529A>C (p.Asp510Ala)
c.2180A>C (p.Asp727Ala)
c.1007A>C (p.Asp336Ala)
11g.68158098C>ACA381588351KMT5Bc.2035G>T (p.Asp679Tyr)
n.2600G>T
c.*1872G>T (n.*1872G>T)
c.*1915G>T (n.*1915G>T)
c.1732G>T (p.Asp578Tyr)
c.*1456G>T (n.*1456G>T)
c.2248G>T (p.Asp750Tyr)
c.1528G>T (p.Asp510Tyr)
c.2179G>T (p.Asp727Tyr)
c.1006G>T (p.Asp336Tyr)
11g.68158098C>GCA381588352KMT5Bc.2035G>C (p.Asp679His)
n.2600G>C
c.*1872G>C (n.*1872G>C)
c.*1915G>C (n.*1915G>C)
c.1732G>C (p.Asp578His)
c.*1456G>C (n.*1456G>C)
c.2248G>C (p.Asp750His)
c.1528G>C (p.Asp510His)
c.2179G>C (p.Asp727His)
c.1006G>C (p.Asp336His)
11g.68158098C>TCA381588354KMT5Bc.2035G>A (p.Asp679Asn)
n.2600G>A
c.*1872G>A (n.*1872G>A)
c.*1915G>A (n.*1915G>A)
c.1732G>A (p.Asp578Asn)
c.*1456G>A (n.*1456G>A)
c.2248G>A (p.Asp750Asn)
c.1528G>A (p.Asp510Asn)
c.2179G>A (p.Asp727Asn)
c.1006G>A (p.Asp336Asn)
11g.68158099T>ACA381588356KMT5Bc.2034A>T (p.Lys678Asn)
n.2599A>T
c.*1871A>T (n.*1871A>T)
c.*1914A>T (n.*1914A>T)
c.1731A>T (p.Lys577Asn)
c.*1455A>T (n.*1455A>T)
c.2247A>T (p.Lys749Asn)
c.1527A>T (p.Lys509Asn)
c.2178A>T (p.Lys726Asn)
c.1005A>T (p.Lys335Asn)
11g.68158099T>CCA475514937KMT5Bc.2034A>G (p.Lys678=)
n.2599A>G
c.*1871A>G (n.*1871A>G)
c.*1914A>G (n.*1914A>G)
c.1731A>G (p.Lys577=)
c.*1455A>G (n.*1455A>G)
c.2247A>G (p.Lys749=)
c.1527A>G (p.Lys509=)
c.2178A>G (p.Lys726=)
c.1005A>G (p.Lys335=)
11g.68158099T>GCA381588358KMT5Bc.2034A>C (p.Lys678Asn)
n.2599A>C
c.*1871A>C (n.*1871A>C)
c.*1914A>C (n.*1914A>C)
c.1731A>C (p.Lys577Asn)
c.*1455A>C (n.*1455A>C)
c.2247A>C (p.Lys749Asn)
c.1527A>C (p.Lys509Asn)
c.2178A>C (p.Lys726Asn)
c.1005A>C (p.Lys335Asn)
11g.68158100T>ACA381588362KMT5Bc.2033A>T (p.Lys678Ile)
n.2598A>T
c.*1870A>T (n.*1870A>T)
c.*1913A>T (n.*1913A>T)
c.1730A>T (p.Lys577Ile)
c.*1454A>T (n.*1454A>T)
c.2246A>T (p.Lys749Ile)
c.1526A>T (p.Lys509Ile)
c.2177A>T (p.Lys726Ile)
c.1004A>T (p.Lys335Ile)
11g.68158100T>CCA381588361KMT5Bc.2033A>G (p.Lys678Arg)
n.2598A>G
c.*1870A>G (n.*1870A>G)
c.*1913A>G (n.*1913A>G)
c.1730A>G (p.Lys577Arg)
c.*1454A>G (n.*1454A>G)
c.2246A>G (p.Lys749Arg)
c.1526A>G (p.Lys509Arg)
c.2177A>G (p.Lys726Arg)
c.1004A>G (p.Lys335Arg)
11g.68158100T>GCA381588359KMT5Bc.2033A>C (p.Lys678Thr)
n.2598A>C
c.*1870A>C (n.*1870A>C)
c.*1913A>C (n.*1913A>C)
c.1730A>C (p.Lys577Thr)
c.*1454A>C (n.*1454A>C)
c.2246A>C (p.Lys749Thr)
c.1526A>C (p.Lys509Thr)
c.2177A>C (p.Lys726Thr)
c.1004A>C (p.Lys335Thr)
dbSNP
11g.68158100T=CA1980500540KMT5Bc.2033A= (p.Lys678=)
n.2598A=
c.*1870A= (n.*1870A=)
c.*1913A= (n.*1913A=)
c.1730A= (p.Lys577=)
c.*1454A= (n.*1454A=)
c.2246A= (p.Lys749=)
c.1526A= (p.Lys509=)
c.2177A= (p.Lys726=)
c.1004A= (p.Lys335=)
11g.68158101T>ACA381588367KMT5Bc.2032A>T (p.Lys678Ter)
n.2597A>T
c.*1869A>T (n.*1869A>T)
c.*1912A>T (n.*1912A>T)
c.1729A>T (p.Lys577Ter)
c.*1453A>T (n.*1453A>T)
c.2245A>T (p.Lys749Ter)
c.1525A>T (p.Lys509Ter)
c.2176A>T (p.Lys726Ter)
c.1003A>T (p.Lys335Ter)
11g.68158101T>CCA381588365KMT5Bc.2032A>G (p.Lys678Glu)
n.2597A>G
c.*1869A>G (n.*1869A>G)
c.*1912A>G (n.*1912A>G)
c.1729A>G (p.Lys577Glu)
c.*1453A>G (n.*1453A>G)
c.2245A>G (p.Lys749Glu)
c.1525A>G (p.Lys509Glu)
c.2176A>G (p.Lys726Glu)
c.1003A>G (p.Lys335Glu)
11g.68158101T>GCA381588368KMT5Bc.2032A>C (p.Lys678Gln)
n.2597A>C
c.*1869A>C (n.*1869A>C)
c.*1912A>C (n.*1912A>C)
c.1729A>C (p.Lys577Gln)
c.*1453A>C (n.*1453A>C)
c.2245A>C (p.Lys749Gln)
c.1525A>C (p.Lys509Gln)
c.2176A>C (p.Lys726Gln)
c.1003A>C (p.Lys335Gln)
11g.68158102G>ACA475514939KMT5Bc.2031C>T (p.Ser677=)
n.2596C>T
c.*1868C>T (n.*1868C>T)
c.*1911C>T (n.*1911C>T)
c.1728C>T (p.Ser576=)
c.*1452C>T (n.*1452C>T)
c.2244C>T (p.Ser748=)
c.1524C>T (p.Ser508=)
c.2175C>T (p.Ser725=)
c.1002C>T (p.Ser334=)
11g.68158102G>CCA381588370KMT5Bc.2031C>G (p.Ser677Arg)
n.2596C>G
c.*1868C>G (n.*1868C>G)
c.*1911C>G (n.*1911C>G)
c.1728C>G (p.Ser576Arg)
c.*1452C>G (n.*1452C>G)
c.2244C>G (p.Ser748Arg)
c.1524C>G (p.Ser508Arg)
c.2175C>G (p.Ser725Arg)
c.1002C>G (p.Ser334Arg)
11g.68158102G>TCA381588372KMT5Bc.2031C>A (p.Ser677Arg)
n.2596C>A
c.*1868C>A (n.*1868C>A)
c.*1911C>A (n.*1911C>A)
c.1728C>A (p.Ser576Arg)
c.*1452C>A (n.*1452C>A)
c.2244C>A (p.Ser748Arg)
c.1524C>A (p.Ser508Arg)
c.2175C>A (p.Ser725Arg)
c.1002C>A (p.Ser334Arg)
11g.68158103C>ACA381588375KMT5Bc.2030G>T (p.Ser677Ile)
n.2595G>T
c.*1867G>T (n.*1867G>T)
c.*1910G>T (n.*1910G>T)
c.1727G>T (p.Ser576Ile)
c.*1451G>T (n.*1451G>T)
c.2243G>T (p.Ser748Ile)
c.1523G>T (p.Ser508Ile)
c.2174G>T (p.Ser725Ile)
c.1001G>T (p.Ser334Ile)
11g.68158103C>GCA381588378KMT5Bc.2030G>C (p.Ser677Thr)
n.2595G>C
c.*1867G>C (n.*1867G>C)
c.*1910G>C (n.*1910G>C)
c.1727G>C (p.Ser576Thr)
c.*1451G>C (n.*1451G>C)
c.2243G>C (p.Ser748Thr)
c.1523G>C (p.Ser508Thr)
c.2174G>C (p.Ser725Thr)
c.1001G>C (p.Ser334Thr)
11g.68158103C>TCA381588376KMT5Bc.2030G>A (p.Ser677Asn)
n.2595G>A
c.*1867G>A (n.*1867G>A)
c.*1910G>A (n.*1910G>A)
c.1727G>A (p.Ser576Asn)
c.*1451G>A (n.*1451G>A)
c.2243G>A (p.Ser748Asn)
c.1523G>A (p.Ser508Asn)
c.2174G>A (p.Ser725Asn)
c.1001G>A (p.Ser334Asn)
gnomAD v4
11g.68158104T>ACA381588381KMT5Bc.2029A>T (p.Ser677Cys)
n.2594A>T
c.*1866A>T (n.*1866A>T)
c.*1909A>T (n.*1909A>T)
c.1726A>T (p.Ser576Cys)
c.*1450A>T (n.*1450A>T)
c.2242A>T (p.Ser748Cys)
c.1522A>T (p.Ser508Cys)
c.2173A>T (p.Ser725Cys)
c.1000A>T (p.Ser334Cys)
11g.68158104T>CCA6148034KMT5Bc.2029A>G (p.Ser677Gly)
n.2594A>G
c.*1866A>G (n.*1866A>G)
c.*1909A>G (n.*1909A>G)
c.1726A>G (p.Ser576Gly)
c.*1450A>G (n.*1450A>G)
c.2242A>G (p.Ser748Gly)
c.1522A>G (p.Ser508Gly)
c.2173A>G (p.Ser725Gly)
c.1000A>G (p.Ser334Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.68158104T>GCA381588382KMT5Bc.2029A>C (p.Ser677Arg)
n.2594A>C
c.*1866A>C (n.*1866A>C)
c.*1909A>C (n.*1909A>C)
c.1726A>C (p.Ser576Arg)
c.*1450A>C (n.*1450A>C)
c.2242A>C (p.Ser748Arg)
c.1522A>C (p.Ser508Arg)
c.2173A>C (p.Ser725Arg)
c.1000A>C (p.Ser334Arg)
11g.68158104T=CA1980500547KMT5Bc.2029A= (p.Ser677=)
n.2594A=
c.*1866A= (n.*1866A=)
c.*1909A= (n.*1909A=)
c.1726A= (p.Ser576=)
c.*1450A= (n.*1450A=)
c.2242A= (p.Ser748=)
c.1522A= (p.Ser508=)
c.2173A= (p.Ser725=)
c.1000A= (p.Ser334=)
11g.68158105T>ACA381588385KMT5Bc.2028A>T (p.Leu676Phe)
n.2593A>T
c.*1865A>T (n.*1865A>T)
c.*1908A>T (n.*1908A>T)
c.1725A>T (p.Leu575Phe)
c.*1449A>T (n.*1449A>T)
c.2241A>T (p.Leu747Phe)
c.1521A>T (p.Leu507Phe)
c.2172A>T (p.Leu724Phe)
c.999A>T (p.Leu333Phe)
11g.68158105T>CCA475514941KMT5Bc.2028A>G (p.Leu676=)
n.2593A>G
c.*1865A>G (n.*1865A>G)
c.*1908A>G (n.*1908A>G)
c.1725A>G (p.Leu575=)
c.*1449A>G (n.*1449A>G)
c.2241A>G (p.Leu747=)
c.1521A>G (p.Leu507=)
c.2172A>G (p.Leu724=)
c.999A>G (p.Leu333=)
gnomAD v4
11g.68158105T>GCA381588387KMT5Bc.2028A>C (p.Leu676Phe)
n.2593A>C
c.*1865A>C (n.*1865A>C)
c.*1908A>C (n.*1908A>C)
c.1725A>C (p.Leu575Phe)
c.*1449A>C (n.*1449A>C)
c.2241A>C (p.Leu747Phe)
c.1521A>C (p.Leu507Phe)
c.2172A>C (p.Leu724Phe)
c.999A>C (p.Leu333Phe)
11g.68158106A>CCA381588388KMT5Bc.2027T>G (p.Leu676Ter)
n.2592T>G
c.*1864T>G (n.*1864T>G)
c.*1907T>G (n.*1907T>G)
c.1724T>G (p.Leu575Ter)
c.*1448T>G (n.*1448T>G)
c.2240T>G (p.Leu747Ter)
c.1520T>G (p.Leu507Ter)
c.2171T>G (p.Leu724Ter)
c.998T>G (p.Leu333Ter)
gnomAD v4
11g.68158106A>GCA381588390KMT5Bc.2027T>C (p.Leu676Ser)
n.2592T>C
c.*1864T>C (n.*1864T>C)
c.*1907T>C (n.*1907T>C)
c.1724T>C (p.Leu575Ser)
c.*1448T>C (n.*1448T>C)
c.2240T>C (p.Leu747Ser)
c.1520T>C (p.Leu507Ser)
c.2171T>C (p.Leu724Ser)
c.998T>C (p.Leu333Ser)
11g.68158106A>TCA381588391KMT5Bc.2027T>A (p.Leu676Ter)
n.2592T>A
c.*1864T>A (n.*1864T>A)
c.*1907T>A (n.*1907T>A)
c.1724T>A (p.Leu575Ter)
c.*1448T>A (n.*1448T>A)
c.2240T>A (p.Leu747Ter)
c.1520T>A (p.Leu507Ter)
c.2171T>A (p.Leu724Ter)
c.998T>A (p.Leu333Ter)
11g.68158107A>CCA381588393KMT5Bc.2026T>G (p.Leu676Val)
n.2591T>G
c.*1863T>G (n.*1863T>G)
c.*1906T>G (n.*1906T>G)
c.1723T>G (p.Leu575Val)
c.*1447T>G (n.*1447T>G)
c.2239T>G (p.Leu747Val)
c.1519T>G (p.Leu507Val)
c.2170T>G (p.Leu724Val)
c.997T>G (p.Leu333Val)
11g.68158107A>GCA475514943KMT5Bc.2026T>C (p.Leu676=)
n.2591T>C
c.*1863T>C (n.*1863T>C)
c.*1906T>C (n.*1906T>C)
c.1723T>C (p.Leu575=)
c.*1447T>C (n.*1447T>C)
c.2239T>C (p.Leu747=)
c.1519T>C (p.Leu507=)
c.2170T>C (p.Leu724=)
c.997T>C (p.Leu333=)
11g.68158107A>TCA381588394KMT5Bc.2026T>A (p.Leu676Ile)
n.2591T>A
c.*1863T>A (n.*1863T>A)
c.*1906T>A (n.*1906T>A)
c.1723T>A (p.Leu575Ile)
c.*1447T>A (n.*1447T>A)
c.2239T>A (p.Leu747Ile)
c.1519T>A (p.Leu507Ile)
c.2170T>A (p.Leu724Ile)
c.997T>A (p.Leu333Ile)
11g.68158108C>ACA381588397KMT5Bc.2025G>T (p.Lys675Asn)
n.2590G>T
c.*1862G>T (n.*1862G>T)
c.*1905G>T (n.*1905G>T)
c.1722G>T (p.Lys574Asn)
c.*1446G>T (n.*1446G>T)
c.2238G>T (p.Lys746Asn)
c.1518G>T (p.Lys506Asn)
c.2169G>T (p.Lys723Asn)
c.996G>T (p.Lys332Asn)
11g.68158108C=CA1980500553KMT5Bc.2025G= (p.Lys675=)
n.2590G=
c.*1862G= (n.*1862G=)
c.*1905G= (n.*1905G=)
c.1722G= (p.Lys574=)
c.*1446G= (n.*1446G=)
c.2238G= (p.Lys746=)
c.1518G= (p.Lys506=)
c.2169G= (p.Lys723=)
c.996G= (p.Lys332=)
11g.68158108C>GCA381588399KMT5Bc.2025G>C (p.Lys675Asn)
n.2590G>C
c.*1862G>C (n.*1862G>C)
c.*1905G>C (n.*1905G>C)
c.1722G>C (p.Lys574Asn)
c.*1446G>C (n.*1446G>C)
c.2238G>C (p.Lys746Asn)
c.1518G>C (p.Lys506Asn)
c.2169G>C (p.Lys723Asn)
c.996G>C (p.Lys332Asn)
11g.68158108C>TCA475514944KMT5Bc.2025G>A (p.Lys675=)
n.2590G>A
c.*1862G>A (n.*1862G>A)
c.*1905G>A (n.*1905G>A)
c.1722G>A (p.Lys574=)
c.*1446G>A (n.*1446G>A)
c.2238G>A (p.Lys746=)
c.1518G>A (p.Lys506=)
c.2169G>A (p.Lys723=)
c.996G>A (p.Lys332=)
dbSNP gnomAD v3 gnomAD v4
11g.68158109T>ACA381588400KMT5Bc.2024A>T (p.Lys675Met)
n.2589A>T
c.*1861A>T (n.*1861A>T)
c.*1904A>T (n.*1904A>T)
c.1721A>T (p.Lys574Met)
c.*1445A>T (n.*1445A>T)
c.2237A>T (p.Lys746Met)
c.1517A>T (p.Lys506Met)
c.2168A>T (p.Lys723Met)
c.995A>T (p.Lys332Met)
11g.68158109T>CCA381588403KMT5Bc.2024A>G (p.Lys675Arg)
n.2589A>G
c.*1861A>G (n.*1861A>G)
c.*1904A>G (n.*1904A>G)
c.1721A>G (p.Lys574Arg)
c.*1445A>G (n.*1445A>G)
c.2237A>G (p.Lys746Arg)
c.1517A>G (p.Lys506Arg)
c.2168A>G (p.Lys723Arg)
c.995A>G (p.Lys332Arg)
dbSNP gnomAD v4
11g.68158109T>GCA381588404KMT5Bc.2024A>C (p.Lys675Thr)
n.2589A>C
c.*1861A>C (n.*1861A>C)
c.*1904A>C (n.*1904A>C)
c.1721A>C (p.Lys574Thr)
c.*1445A>C (n.*1445A>C)
c.2237A>C (p.Lys746Thr)
c.1517A>C (p.Lys506Thr)
c.2168A>C (p.Lys723Thr)
c.995A>C (p.Lys332Thr)
11g.68158109T=CA1980500555KMT5Bc.2024A= (p.Lys675=)
n.2589A=
c.*1861A= (n.*1861A=)
c.*1904A= (n.*1904A=)
c.1721A= (p.Lys574=)
c.*1445A= (n.*1445A=)
c.2237A= (p.Lys746=)
c.1517A= (p.Lys506=)
c.2168A= (p.Lys723=)
c.995A= (p.Lys332=)
11g.68158110T>ACA381588407KMT5Bc.2023A>T (p.Lys675Ter)
n.2588A>T
c.*1860A>T (n.*1860A>T)
c.*1903A>T (n.*1903A>T)
c.1720A>T (p.Lys574Ter)
c.*1444A>T (n.*1444A>T)
c.2236A>T (p.Lys746Ter)
c.1516A>T (p.Lys506Ter)
c.2167A>T (p.Lys723Ter)
c.994A>T (p.Lys332Ter)
11g.68158110T>CCA381588409KMT5Bc.2023A>G (p.Lys675Glu)
n.2588A>G
c.*1860A>G (n.*1860A>G)
c.*1903A>G (n.*1903A>G)
c.1720A>G (p.Lys574Glu)
c.*1444A>G (n.*1444A>G)
c.2236A>G (p.Lys746Glu)
c.1516A>G (p.Lys506Glu)
c.2167A>G (p.Lys723Glu)
c.994A>G (p.Lys332Glu)
11g.68158110T>GCA381588410KMT5Bc.2023A>C (p.Lys675Gln)
n.2588A>C
c.*1860A>C (n.*1860A>C)
c.*1903A>C (n.*1903A>C)
c.1720A>C (p.Lys574Gln)
c.*1444A>C (n.*1444A>C)
c.2236A>C (p.Lys746Gln)
c.1516A>C (p.Lys506Gln)
c.2167A>C (p.Lys723Gln)
c.994A>C (p.Lys332Gln)
dbSNP gnomAD v4
11g.68158110T=CA1980500558KMT5Bc.2023A= (p.Lys675=)
n.2588A=
c.*1860A= (n.*1860A=)
c.*1903A= (n.*1903A=)
c.1720A= (p.Lys574=)
c.*1444A= (n.*1444A=)
c.2236A= (p.Lys746=)
c.1516A= (p.Lys506=)
c.2167A= (p.Lys723=)
c.994A= (p.Lys332=)
11g.68158111G>ACA475514946KMT5Bc.2022C>T (p.Ile674=)
n.2587C>T
c.*1859C>T (n.*1859C>T)
c.*1902C>T (n.*1902C>T)
c.1719C>T (p.Ile573=)
c.*1443C>T (n.*1443C>T)
c.2235C>T (p.Ile745=)
c.1515C>T (p.Ile505=)
c.2166C>T (p.Ile722=)
c.993C>T (p.Ile331=)
11g.68158111G>CCA381588413KMT5Bc.2022C>G (p.Ile674Met)
n.2587C>G
c.*1859C>G (n.*1859C>G)
c.*1902C>G (n.*1902C>G)
c.1719C>G (p.Ile573Met)
c.*1443C>G (n.*1443C>G)
c.2235C>G (p.Ile745Met)
c.1515C>G (p.Ile505Met)
c.2166C>G (p.Ile722Met)
c.993C>G (p.Ile331Met)
11g.68158111G=CA1980500561KMT5Bc.2022C= (p.Ile674=)
n.2587C=
c.*1859C= (n.*1859C=)
c.*1902C= (n.*1902C=)
c.1719C= (p.Ile573=)
c.*1443C= (n.*1443C=)
c.2235C= (p.Ile745=)
c.1515C= (p.Ile505=)
c.2166C= (p.Ile722=)
c.993C= (p.Ile331=)
11g.68158111G>TCA475514947KMT5Bc.2022C>A (p.Ile674=)
n.2587C>A
c.*1859C>A (n.*1859C>A)
c.*1902C>A (n.*1902C>A)
c.1719C>A (p.Ile573=)
c.*1443C>A (n.*1443C>A)
c.2235C>A (p.Ile745=)
c.1515C>A (p.Ile505=)
c.2166C>A (p.Ile722=)
c.993C>A (p.Ile331=)
dbSNP gnomAD v4
11g.68158112A>CCA381588415KMT5Bc.2021T>G (p.Ile674Ser)
n.2586T>G
c.*1858T>G (n.*1858T>G)
c.*1901T>G (n.*1901T>G)
c.1718T>G (p.Ile573Ser)
c.*1442T>G (n.*1442T>G)
c.2234T>G (p.Ile745Ser)
c.1514T>G (p.Ile505Ser)
c.2165T>G (p.Ile722Ser)
c.992T>G (p.Ile331Ser)
11g.68158112A>GCA381588417KMT5Bc.2021T>C (p.Ile674Thr)
n.2586T>C
c.*1858T>C (n.*1858T>C)
c.*1901T>C (n.*1901T>C)
c.1718T>C (p.Ile573Thr)
c.*1442T>C (n.*1442T>C)
c.2234T>C (p.Ile745Thr)
c.1514T>C (p.Ile505Thr)
c.2165T>C (p.Ile722Thr)
c.992T>C (p.Ile331Thr)
gnomAD v4
11g.68158112A>TCA381588419KMT5Bc.2021T>A (p.Ile674Asn)
n.2586T>A
c.*1858T>A (n.*1858T>A)
c.*1901T>A (n.*1901T>A)
c.1718T>A (p.Ile573Asn)
c.*1442T>A (n.*1442T>A)
c.2234T>A (p.Ile745Asn)
c.1514T>A (p.Ile505Asn)
c.2165T>A (p.Ile722Asn)
c.992T>A (p.Ile331Asn)
11g.68158113T>ACA381588420KMT5Bc.2020A>T (p.Ile674Phe)
n.2585A>T
c.*1857A>T (n.*1857A>T)
c.*1900A>T (n.*1900A>T)
c.1717A>T (p.Ile573Phe)
c.*1441A>T (n.*1441A>T)
c.2233A>T (p.Ile745Phe)
c.1513A>T (p.Ile505Phe)
c.2164A>T (p.Ile722Phe)
c.991A>T (p.Ile331Phe)
11g.68158113T>CCA381588422KMT5Bc.2020A>G (p.Ile674Val)
n.2585A>G
c.*1857A>G (n.*1857A>G)
c.*1900A>G (n.*1900A>G)
c.1717A>G (p.Ile573Val)
c.*1441A>G (n.*1441A>G)
c.2233A>G (p.Ile745Val)
c.1513A>G (p.Ile505Val)
c.2164A>G (p.Ile722Val)
c.991A>G (p.Ile331Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68158113T>GCA381588424KMT5Bc.2020A>C (p.Ile674Leu)
n.2585A>C
c.*1857A>C (n.*1857A>C)
c.*1900A>C (n.*1900A>C)
c.1717A>C (p.Ile573Leu)
c.*1441A>C (n.*1441A>C)
c.2233A>C (p.Ile745Leu)
c.1513A>C (p.Ile505Leu)
c.2164A>C (p.Ile722Leu)
c.991A>C (p.Ile331Leu)
11g.68158113T=CA1980500566KMT5Bc.2020A= (p.Ile674=)
n.2585A=
c.*1857A= (n.*1857A=)
c.*1900A= (n.*1900A=)
c.1717A= (p.Ile573=)
c.*1441A= (n.*1441A=)
c.2233A= (p.Ile745=)
c.1513A= (p.Ile505=)
c.2164A= (p.Ile722=)
c.991A= (p.Ile331=)
11g.68158114G>ACA475514948KMT5Bc.2019C>T (p.Ser673=)
n.2584C>T
c.*1856C>T (n.*1856C>T)
c.*1899C>T (n.*1899C>T)
c.1716C>T (p.Ser572=)
c.*1440C>T (n.*1440C>T)
c.2232C>T (p.Ser744=)
c.1512C>T (p.Ser504=)
c.2163C>T (p.Ser721=)
c.990C>T (p.Ser330=)
11g.68158114G>CCA381588426KMT5Bc.2019C>G (p.Ser673Arg)
n.2584C>G
c.*1856C>G (n.*1856C>G)
c.*1899C>G (n.*1899C>G)
c.1716C>G (p.Ser572Arg)
c.*1440C>G (n.*1440C>G)
c.2232C>G (p.Ser744Arg)
c.1512C>G (p.Ser504Arg)
c.2163C>G (p.Ser721Arg)
c.990C>G (p.Ser330Arg)
COSMIC COSMIC
11g.68158114G>TCA381588428KMT5Bc.2019C>A (p.Ser673Arg)
n.2584C>A
c.*1856C>A (n.*1856C>A)
c.*1899C>A (n.*1899C>A)
c.1716C>A (p.Ser572Arg)
c.*1440C>A (n.*1440C>A)
c.2232C>A (p.Ser744Arg)
c.1512C>A (p.Ser504Arg)
c.2163C>A (p.Ser721Arg)
c.990C>A (p.Ser330Arg)
11g.68158115C>ACA381588430KMT5Bc.2018G>T (p.Ser673Ile)
n.2583G>T
c.*1855G>T (n.*1855G>T)
c.*1898G>T (n.*1898G>T)
c.1715G>T (p.Ser572Ile)
c.*1439G>T (n.*1439G>T)
c.2231G>T (p.Ser744Ile)
c.1511G>T (p.Ser504Ile)
c.2162G>T (p.Ser721Ile)
c.989G>T (p.Ser330Ile)
COSMIC
11g.68158115C=CA1980500568KMT5Bc.2018G= (p.Ser673=)
n.2583G=
c.*1855G= (n.*1855G=)
c.*1898G= (n.*1898G=)
c.1715G= (p.Ser572=)
c.*1439G= (n.*1439G=)
c.2231G= (p.Ser744=)
c.1511G= (p.Ser504=)
c.2162G= (p.Ser721=)
c.989G= (p.Ser330=)
11g.68158115C>GCA381588431KMT5Bc.2018G>C (p.Ser673Thr)
n.2583G>C
c.*1855G>C (n.*1855G>C)
c.*1898G>C (n.*1898G>C)
c.1715G>C (p.Ser572Thr)
c.*1439G>C (n.*1439G>C)
c.2231G>C (p.Ser744Thr)
c.1511G>C (p.Ser504Thr)
c.2162G>C (p.Ser721Thr)
c.989G>C (p.Ser330Thr)
11g.68158115C>TCA6148035KMT5Bc.2018G>A (p.Ser673Asn)
n.2583G>A
c.*1855G>A (n.*1855G>A)
c.*1898G>A (n.*1898G>A)
c.1715G>A (p.Ser572Asn)
c.*1439G>A (n.*1439G>A)
c.2231G>A (p.Ser744Asn)
c.1511G>A (p.Ser504Asn)
c.2162G>A (p.Ser721Asn)
c.989G>A (p.Ser330Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.68158116T>ACA381588436KMT5Bc.2017A>T (p.Ser673Cys)
n.2582A>T
c.*1854A>T (n.*1854A>T)
c.*1897A>T (n.*1897A>T)
c.1714A>T (p.Ser572Cys)
c.*1438A>T (n.*1438A>T)
c.2230A>T (p.Ser744Cys)
c.1510A>T (p.Ser504Cys)
c.2161A>T (p.Ser721Cys)
c.988A>T (p.Ser330Cys)
11g.68158116T>CCA381588434KMT5Bc.2017A>G (p.Ser673Gly)
n.2582A>G
c.*1854A>G (n.*1854A>G)
c.*1897A>G (n.*1897A>G)
c.1714A>G (p.Ser572Gly)
c.*1438A>G (n.*1438A>G)
c.2230A>G (p.Ser744Gly)
c.1510A>G (p.Ser504Gly)
c.2161A>G (p.Ser721Gly)
c.988A>G (p.Ser330Gly)
11g.68158116T>GCA381588433KMT5Bc.2017A>C (p.Ser673Arg)
n.2582A>C
c.*1854A>C (n.*1854A>C)
c.*1897A>C (n.*1897A>C)
c.1714A>C (p.Ser572Arg)
c.*1438A>C (n.*1438A>C)
c.2230A>C (p.Ser744Arg)
c.1510A>C (p.Ser504Arg)
c.2161A>C (p.Ser721Arg)
c.988A>C (p.Ser330Arg)
11g.68158117T>ACA475514951KMT5Bc.2016A>T (p.Ile672=)
n.2581A>T
c.*1853A>T (n.*1853A>T)
c.*1896A>T (n.*1896A>T)
c.1713A>T (p.Ile571=)
c.*1437A>T (n.*1437A>T)
c.2229A>T (p.Ile743=)
c.1509A>T (p.Ile503=)
c.2160A>T (p.Ile720=)
c.987A>T (p.Ile329=)
11g.68158117T>CCA381588438KMT5Bc.2016A>G (p.Ile672Met)
n.2581A>G
c.*1853A>G (n.*1853A>G)
c.*1896A>G (n.*1896A>G)
c.1713A>G (p.Ile571Met)
c.*1437A>G (n.*1437A>G)
c.2229A>G (p.Ile743Met)
c.1509A>G (p.Ile503Met)
c.2160A>G (p.Ile720Met)
c.987A>G (p.Ile329Met)
11g.68158117T>GCA475514950KMT5Bc.2016A>C (p.Ile672=)
n.2581A>C
c.*1853A>C (n.*1853A>C)
c.*1896A>C (n.*1896A>C)
c.1713A>C (p.Ile571=)
c.*1437A>C (n.*1437A>C)
c.2229A>C (p.Ile743=)
c.1509A>C (p.Ile503=)
c.2160A>C (p.Ile720=)
c.987A>C (p.Ile329=)
11g.68158118A=CA1980500571KMT5Bc.2015T= (p.Ile672=)
n.2580T=
c.*1852T= (n.*1852T=)
c.*1895T= (n.*1895T=)
c.1712T= (p.Ile571=)
c.*1436T= (n.*1436T=)
c.2228T= (p.Ile743=)
c.1508T= (p.Ile503=)
c.2159T= (p.Ile720=)
c.986T= (p.Ile329=)
11g.68158118A>CCA381588440KMT5Bc.2015T>G (p.Ile672Arg)
n.2580T>G
c.*1852T>G (n.*1852T>G)
c.*1895T>G (n.*1895T>G)
c.1712T>G (p.Ile571Arg)
c.*1436T>G (n.*1436T>G)
c.2228T>G (p.Ile743Arg)
c.1508T>G (p.Ile503Arg)
c.2159T>G (p.Ile720Arg)
c.986T>G (p.Ile329Arg)
11g.68158118A>GCA381588443KMT5Bc.2015T>C (p.Ile672Thr)
n.2580T>C
c.*1852T>C (n.*1852T>C)
c.*1895T>C (n.*1895T>C)
c.1712T>C (p.Ile571Thr)
c.*1436T>C (n.*1436T>C)
c.2228T>C (p.Ile743Thr)
c.1508T>C (p.Ile503Thr)
c.2159T>C (p.Ile720Thr)
c.986T>C (p.Ile329Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.68158118A>TCA381588445KMT5Bc.2015T>A (p.Ile672Lys)
n.2580T>A
c.*1852T>A (n.*1852T>A)
c.*1895T>A (n.*1895T>A)
c.1712T>A (p.Ile571Lys)
c.*1436T>A (n.*1436T>A)
c.2228T>A (p.Ile743Lys)
c.1508T>A (p.Ile503Lys)
c.2159T>A (p.Ile720Lys)
c.986T>A (p.Ile329Lys)
11g.68158119T>ACA381588447KMT5Bc.2014A>T (p.Ile672Leu)
n.2579A>T
c.*1851A>T (n.*1851A>T)
c.*1894A>T (n.*1894A>T)
c.1711A>T (p.Ile571Leu)
c.*1435A>T (n.*1435A>T)
c.2227A>T (p.Ile743Leu)
c.1507A>T (p.Ile503Leu)
c.2158A>T (p.Ile720Leu)
c.985A>T (p.Ile329Leu)
11g.68158119T>CCA6148036KMT5Bc.2014A>G (p.Ile672Val)
n.2579A>G
c.*1851A>G (n.*1851A>G)
c.*1894A>G (n.*1894A>G)
c.1711A>G (p.Ile571Val)
c.*1435A>G (n.*1435A>G)
c.2227A>G (p.Ile743Val)
c.1507A>G (p.Ile503Val)
c.2158A>G (p.Ile720Val)
c.985A>G (p.Ile329Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68158119T>GCA381588449KMT5Bc.2014A>C (p.Ile672Leu)
n.2579A>C
c.*1851A>C (n.*1851A>C)
c.*1894A>C (n.*1894A>C)
c.1711A>C (p.Ile571Leu)
c.*1435A>C (n.*1435A>C)
c.2227A>C (p.Ile743Leu)
c.1507A>C (p.Ile503Leu)
c.2158A>C (p.Ile720Leu)
c.985A>C (p.Ile329Leu)
11g.68158119T=CA1980500572KMT5Bc.2014A= (p.Ile672=)
n.2579A=
c.*1851A= (n.*1851A=)
c.*1894A= (n.*1894A=)
c.1711A= (p.Ile571=)
c.*1435A= (n.*1435A=)
c.2227A= (p.Ile743=)
c.1507A= (p.Ile503=)
c.2158A= (p.Ile720=)
c.985A= (p.Ile329=)
11g.68158120T>ACA381588450KMT5Bc.2013A>T (p.Lys671Asn)
n.2578A>T
c.*1850A>T (n.*1850A>T)
c.*1893A>T (n.*1893A>T)
c.1710A>T (p.Lys570Asn)
c.*1434A>T (n.*1434A>T)
c.2226A>T (p.Lys742Asn)
c.1506A>T (p.Lys502Asn)
c.2157A>T (p.Lys719Asn)
c.984A>T (p.Lys328Asn)
11g.68158120T>CCA475514952KMT5Bc.2013A>G (p.Lys671=)
n.2578A>G
c.*1850A>G (n.*1850A>G)
c.*1893A>G (n.*1893A>G)
c.1710A>G (p.Lys570=)
c.*1434A>G (n.*1434A>G)
c.2226A>G (p.Lys742=)
c.1506A>G (p.Lys502=)
c.2157A>G (p.Lys719=)
c.984A>G (p.Lys328=)
11g.68158120T>GCA381588451KMT5Bc.2013A>C (p.Lys671Asn)
n.2578A>C
c.*1850A>C (n.*1850A>C)
c.*1893A>C (n.*1893A>C)
c.1710A>C (p.Lys570Asn)
c.*1434A>C (n.*1434A>C)
c.2226A>C (p.Lys742Asn)
c.1506A>C (p.Lys502Asn)
c.2157A>C (p.Lys719Asn)
c.984A>C (p.Lys328Asn)
11g.68158121T>ACA381588454KMT5Bc.2012A>T (p.Lys671Ile)
n.2577A>T
c.*1849A>T (n.*1849A>T)
c.*1892A>T (n.*1892A>T)
c.1709A>T (p.Lys570Ile)
c.*1433A>T (n.*1433A>T)
c.2225A>T (p.Lys742Ile)
c.1505A>T (p.Lys502Ile)
c.2156A>T (p.Lys719Ile)
c.983A>T (p.Lys328Ile)
11g.68158121T>CCA381588455KMT5Bc.2012A>G (p.Lys671Arg)
n.2577A>G
c.*1849A>G (n.*1849A>G)
c.*1892A>G (n.*1892A>G)
c.1709A>G (p.Lys570Arg)
c.*1433A>G (n.*1433A>G)
c.2225A>G (p.Lys742Arg)
c.1505A>G (p.Lys502Arg)
c.2156A>G (p.Lys719Arg)
c.983A>G (p.Lys328Arg)
11g.68158121T>GCA381588457KMT5Bc.2012A>C (p.Lys671Thr)
n.2577A>C
c.*1849A>C (n.*1849A>C)
c.*1892A>C (n.*1892A>C)
c.1709A>C (p.Lys570Thr)
c.*1433A>C (n.*1433A>C)
c.2225A>C (p.Lys742Thr)
c.1505A>C (p.Lys502Thr)
c.2156A>C (p.Lys719Thr)
c.983A>C (p.Lys328Thr)
11g.68158122T>ACA381588463KMT5Bc.2011A>T (p.Lys671Ter)
n.2576A>T
c.*1848A>T (n.*1848A>T)
c.*1891A>T (n.*1891A>T)
c.1708A>T (p.Lys570Ter)
c.*1432A>T (n.*1432A>T)
c.2224A>T (p.Lys742Ter)
c.1504A>T (p.Lys502Ter)
c.2155A>T (p.Lys719Ter)
c.982A>T (p.Lys328Ter)
11g.68158122T>CCA381588459KMT5Bc.2011A>G (p.Lys671Glu)
n.2576A>G
c.*1848A>G (n.*1848A>G)
c.*1891A>G (n.*1891A>G)
c.1708A>G (p.Lys570Glu)
c.*1432A>G (n.*1432A>G)
c.2224A>G (p.Lys742Glu)
c.1504A>G (p.Lys502Glu)
c.2155A>G (p.Lys719Glu)
c.982A>G (p.Lys328Glu)
11g.68158122T>GCA381588461KMT5Bc.2011A>C (p.Lys671Gln)
n.2576A>C
c.*1848A>C (n.*1848A>C)
c.*1891A>C (n.*1891A>C)
c.1708A>C (p.Lys570Gln)
c.*1432A>C (n.*1432A>C)
c.2224A>C (p.Lys742Gln)
c.1504A>C (p.Lys502Gln)
c.2155A>C (p.Lys719Gln)
c.982A>C (p.Lys328Gln)
11g.68158123G>ACA475514954KMT5Bc.2010C>T (p.Ser670=)
n.2575C>T
c.*1847C>T (n.*1847C>T)
c.*1890C>T (n.*1890C>T)
c.1707C>T (p.Ser569=)
c.*1431C>T (n.*1431C>T)
c.2223C>T (p.Ser741=)
c.1503C>T (p.Ser501=)
c.2154C>T (p.Ser718=)
c.981C>T (p.Ser327=)
11g.68158123G>CCA475514956KMT5Bc.2010C>G (p.Ser670=)
n.2575C>G
c.*1847C>G (n.*1847C>G)
c.*1890C>G (n.*1890C>G)
c.1707C>G (p.Ser569=)
c.*1431C>G (n.*1431C>G)
c.2223C>G (p.Ser741=)
c.1503C>G (p.Ser501=)
c.2154C>G (p.Ser718=)
c.981C>G (p.Ser327=)
11g.68158123G>TCA475514955KMT5Bc.2010C>A (p.Ser670=)
n.2575C>A
c.*1847C>A (n.*1847C>A)
c.*1890C>A (n.*1890C>A)
c.1707C>A (p.Ser569=)
c.*1431C>A (n.*1431C>A)
c.2223C>A (p.Ser741=)
c.1503C>A (p.Ser501=)
c.2154C>A (p.Ser718=)
c.981C>A (p.Ser327=)
11g.68158124G>ACA381588465KMT5Bc.2009C>T (p.Ser670Phe)
n.2574C>T
c.*1846C>T (n.*1846C>T)
c.*1889C>T (n.*1889C>T)
c.1706C>T (p.Ser569Phe)
c.*1430C>T (n.*1430C>T)
c.2222C>T (p.Ser741Phe)
c.1502C>T (p.Ser501Phe)
c.2153C>T (p.Ser718Phe)
c.980C>T (p.Ser327Phe)
COSMIC COSMIC
11g.68158124G>CCA381588467KMT5Bc.2009C>G (p.Ser670Cys)
n.2574C>G
c.*1846C>G (n.*1846C>G)
c.*1889C>G (n.*1889C>G)
c.1706C>G (p.Ser569Cys)
c.*1430C>G (n.*1430C>G)
c.2222C>G (p.Ser741Cys)
c.1502C>G (p.Ser501Cys)
c.2153C>G (p.Ser718Cys)
c.980C>G (p.Ser327Cys)
11g.68158124G>TCA381588469KMT5Bc.2009C>A (p.Ser670Tyr)
n.2574C>A
c.*1846C>A (n.*1846C>A)
c.*1889C>A (n.*1889C>A)
c.1706C>A (p.Ser569Tyr)
c.*1430C>A (n.*1430C>A)
c.2222C>A (p.Ser741Tyr)
c.1502C>A (p.Ser501Tyr)
c.2153C>A (p.Ser718Tyr)
c.980C>A (p.Ser327Tyr)
11g.68158125A>CCA381588471KMT5Bc.2008T>G (p.Ser670Ala)
n.2573T>G
c.*1845T>G (n.*1845T>G)
c.*1888T>G (n.*1888T>G)
c.1705T>G (p.Ser569Ala)
c.*1429T>G (n.*1429T>G)
c.2221T>G (p.Ser741Ala)
c.1501T>G (p.Ser501Ala)
c.2152T>G (p.Ser718Ala)
c.979T>G (p.Ser327Ala)
11g.68158125A>GCA381588473KMT5Bc.2008T>C (p.Ser670Pro)
n.2573T>C
c.*1845T>C (n.*1845T>C)
c.*1888T>C (n.*1888T>C)
c.1705T>C (p.Ser569Pro)
c.*1429T>C (n.*1429T>C)
c.2221T>C (p.Ser741Pro)
c.1501T>C (p.Ser501Pro)
c.2152T>C (p.Ser718Pro)
c.979T>C (p.Ser327Pro)
11g.68158125A>TCA381588475KMT5Bc.2008T>A (p.Ser670Thr)
n.2573T>A
c.*1845T>A (n.*1845T>A)
c.*1888T>A (n.*1888T>A)
c.1705T>A (p.Ser569Thr)
c.*1429T>A (n.*1429T>A)
c.2221T>A (p.Ser741Thr)
c.1501T>A (p.Ser501Thr)
c.2152T>A (p.Ser718Thr)
c.979T>A (p.Ser327Thr)
11g.68158126A>CCA475514960KMT5Bc.2007T>G (p.Ser669=)
n.2572T>G
c.*1844T>G (n.*1844T>G)
c.*1887T>G (n.*1887T>G)
c.1704T>G (p.Ser568=)
c.*1428T>G (n.*1428T>G)
c.2220T>G (p.Ser740=)
c.1500T>G (p.Ser500=)
c.2151T>G (p.Ser717=)
c.978T>G (p.Ser326=)
11g.68158126A>GCA475514961KMT5Bc.2007T>C (p.Ser669=)
n.2572T>C
c.*1844T>C (n.*1844T>C)
c.*1887T>C (n.*1887T>C)
c.1704T>C (p.Ser568=)
c.*1428T>C (n.*1428T>C)
c.2220T>C (p.Ser740=)
c.1500T>C (p.Ser500=)
c.2151T>C (p.Ser717=)
c.978T>C (p.Ser326=)
gnomAD v4
11g.68158126A>TCA475514962KMT5Bc.2007T>A (p.Ser669=)
n.2572T>A
c.*1844T>A (n.*1844T>A)
c.*1887T>A (n.*1887T>A)
c.1704T>A (p.Ser568=)
c.*1428T>A (n.*1428T>A)
c.2220T>A (p.Ser740=)
c.1500T>A (p.Ser500=)
c.2151T>A (p.Ser717=)
c.978T>A (p.Ser326=)
11g.68158127delCA2523483936KMT5Bc.2006del (p.Ser669PhefsTer4)
n.2571del
c.*1843del (n.*1843del)
c.*1886del (n.*1886del)
c.1703del (p.Ser568PhefsTer4)
c.*1427del (n.*1427del)
c.2219del (p.Ser740PhefsTer4)
c.1499del (p.Ser500PhefsTer4)
c.2150del (p.Ser717PhefsTer4)
c.977del (p.Ser326PhefsTer4)
11g.68158127G>ACA381588477KMT5Bc.2006C>T (p.Ser669Phe)
n.2571C>T
c.*1843C>T (n.*1843C>T)
c.*1886C>T (n.*1886C>T)
c.1703C>T (p.Ser568Phe)
c.*1427C>T (n.*1427C>T)
c.2219C>T (p.Ser740Phe)
c.1499C>T (p.Ser500Phe)
c.2150C>T (p.Ser717Phe)
c.977C>T (p.Ser326Phe)
11g.68158127G>CCA381588479KMT5Bc.2006C>G (p.Ser669Cys)
n.2571C>G
c.*1843C>G (n.*1843C>G)
c.*1886C>G (n.*1886C>G)
c.1703C>G (p.Ser568Cys)
c.*1427C>G (n.*1427C>G)
c.2219C>G (p.Ser740Cys)
c.1499C>G (p.Ser500Cys)
c.2150C>G (p.Ser717Cys)
c.977C>G (p.Ser326Cys)
11g.68158127G>TCA381588481KMT5Bc.2006C>A (p.Ser669Tyr)
n.2571C>A
c.*1843C>A (n.*1843C>A)
c.*1886C>A (n.*1886C>A)
c.1703C>A (p.Ser568Tyr)
c.*1427C>A (n.*1427C>A)
c.2219C>A (p.Ser740Tyr)
c.1499C>A (p.Ser500Tyr)
c.2150C>A (p.Ser717Tyr)
c.977C>A (p.Ser326Tyr)
11g.68158128A=CA1980500576KMT5Bc.2005T= (p.Ser669=)
n.2570T=
c.*1842T= (n.*1842T=)
c.*1885T= (n.*1885T=)
c.1702T= (p.Ser568=)
c.*1426T= (n.*1426T=)
c.2218T= (p.Ser740=)
c.1498T= (p.Ser500=)
c.2149T= (p.Ser717=)
c.976T= (p.Ser326=)
11g.68158128A>CCA6148037KMT5Bc.2005T>G (p.Ser669Ala)
n.2570T>G
c.*1842T>G (n.*1842T>G)
c.*1885T>G (n.*1885T>G)
c.1702T>G (p.Ser568Ala)
c.*1426T>G (n.*1426T>G)
c.2218T>G (p.Ser740Ala)
c.1498T>G (p.Ser500Ala)
c.2149T>G (p.Ser717Ala)
c.976T>G (p.Ser326Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.68158128A>GCA381588482KMT5Bc.2005T>C (p.Ser669Pro)
n.2570T>C
c.*1842T>C (n.*1842T>C)
c.*1885T>C (n.*1885T>C)
c.1702T>C (p.Ser568Pro)
c.*1426T>C (n.*1426T>C)
c.2218T>C (p.Ser740Pro)
c.1498T>C (p.Ser500Pro)
c.2149T>C (p.Ser717Pro)
c.976T>C (p.Ser326Pro)
ClinVar gnomAD v4
11g.68158128A>TCA381588484KMT5Bc.2005T>A (p.Ser669Thr)
n.2570T>A
c.*1842T>A (n.*1842T>A)
c.*1885T>A (n.*1885T>A)
c.1702T>A (p.Ser568Thr)
c.*1426T>A (n.*1426T>A)
c.2218T>A (p.Ser740Thr)
c.1498T>A (p.Ser500Thr)
c.2149T>A (p.Ser717Thr)
c.976T>A (p.Ser326Thr)
11g.68158129G>ACA475514963KMT5Bc.2004C>T (p.Asn668=)
n.2569C>T
c.*1841C>T (n.*1841C>T)
c.*1884C>T (n.*1884C>T)
c.1701C>T (p.Asn567=)
c.*1425C>T (n.*1425C>T)
c.2217C>T (p.Asn739=)
c.1497C>T (p.Asn499=)
c.2148C>T (p.Asn716=)
c.975C>T (p.Asn325=)
11g.68158129G>CCA381588488KMT5Bc.2004C>G (p.Asn668Lys)
n.2569C>G
c.*1841C>G (n.*1841C>G)
c.*1884C>G (n.*1884C>G)
c.1701C>G (p.Asn567Lys)
c.*1425C>G (n.*1425C>G)
c.2217C>G (p.Asn739Lys)
c.1497C>G (p.Asn499Lys)
c.2148C>G (p.Asn716Lys)
c.975C>G (p.Asn325Lys)
gnomAD v4
11g.68158129G>TCA381588487KMT5Bc.2004C>A (p.Asn668Lys)
n.2569C>A
c.*1841C>A (n.*1841C>A)
c.*1884C>A (n.*1884C>A)
c.1701C>A (p.Asn567Lys)
c.*1425C>A (n.*1425C>A)
c.2217C>A (p.Asn739Lys)
c.1497C>A (p.Asn499Lys)
c.2148C>A (p.Asn716Lys)
c.975C>A (p.Asn325Lys)
11g.68158130T>ACA381588491KMT5Bc.2003A>T (p.Asn668Ile)
n.2568A>T
c.*1840A>T (n.*1840A>T)
c.*1883A>T (n.*1883A>T)
c.1700A>T (p.Asn567Ile)
c.*1424A>T (n.*1424A>T)
c.2216A>T (p.Asn739Ile)
c.1496A>T (p.Asn499Ile)
c.2147A>T (p.Asn716Ile)
c.974A>T (p.Asn325Ile)
COSMIC COSMIC
11g.68158130T>CCA6148038KMT5Bc.2003A>G (p.Asn668Ser)
n.2568A>G
c.*1840A>G (n.*1840A>G)
c.*1883A>G (n.*1883A>G)
c.1700A>G (p.Asn567Ser)
c.*1424A>G (n.*1424A>G)
c.2216A>G (p.Asn739Ser)
c.1496A>G (p.Asn499Ser)
c.2147A>G (p.Asn716Ser)
c.974A>G (p.Asn325Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.68158130T>GCA381588493KMT5Bc.2003A>C (p.Asn668Thr)
n.2568A>C
c.*1840A>C (n.*1840A>C)
c.*1883A>C (n.*1883A>C)
c.1700A>C (p.Asn567Thr)
c.*1424A>C (n.*1424A>C)
c.2216A>C (p.Asn739Thr)
c.1496A>C (p.Asn499Thr)
c.2147A>C (p.Asn716Thr)
c.974A>C (p.Asn325Thr)
11g.68158130T=CA1980500578KMT5Bc.2003A= (p.Asn668=)
n.2568A=
c.*1840A= (n.*1840A=)
c.*1883A= (n.*1883A=)
c.1700A= (p.Asn567=)
c.*1424A= (n.*1424A=)
c.2216A= (p.Asn739=)
c.1496A= (p.Asn499=)
c.2147A= (p.Asn716=)
c.974A= (p.Asn325=)
11g.68158131T>ACA381588496KMT5Bc.2002A>T (p.Asn668Tyr)
n.2567A>T
c.*1839A>T (n.*1839A>T)
c.*1882A>T (n.*1882A>T)
c.1699A>T (p.Asn567Tyr)
c.*1423A>T (n.*1423A>T)
c.2215A>T (p.Asn739Tyr)
c.1495A>T (p.Asn499Tyr)
c.2146A>T (p.Asn716Tyr)
c.973A>T (p.Asn325Tyr)
11g.68158131T>CCA381588498KMT5Bc.2002A>G (p.Asn668Asp)
n.2567A>G
c.*1839A>G (n.*1839A>G)
c.*1882A>G (n.*1882A>G)
c.1699A>G (p.Asn567Asp)
c.*1423A>G (n.*1423A>G)
c.2215A>G (p.Asn739Asp)
c.1495A>G (p.Asn499Asp)
c.2146A>G (p.Asn716Asp)
c.973A>G (p.Asn325Asp)
11g.68158131T>GCA381588500KMT5Bc.2002A>C (p.Asn668His)
n.2567A>C
c.*1839A>C (n.*1839A>C)
c.*1882A>C (n.*1882A>C)
c.1699A>C (p.Asn567His)
c.*1423A>C (n.*1423A>C)
c.2215A>C (p.Asn739His)
c.1495A>C (p.Asn499His)
c.2146A>C (p.Asn716His)
c.973A>C (p.Asn325His)
11g.68158132C>ACA6148039KMT5Bc.2001G>T (p.Met667Ile)
n.2566G>T
c.*1838G>T (n.*1838G>T)
c.*1881G>T (n.*1881G>T)
c.1698G>T (p.Met566Ile)
c.*1422G>T (n.*1422G>T)
c.2214G>T (p.Met738Ile)
c.1494G>T (p.Met498Ile)
c.2145G>T (p.Met715Ile)
c.972G>T (p.Met324Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68158132C=CA1980500583KMT5Bc.2001G= (p.Met667=)
n.2566G=
c.*1838G= (n.*1838G=)
c.*1881G= (n.*1881G=)
c.1698G= (p.Met566=)
c.*1422G= (n.*1422G=)
c.2214G= (p.Met738=)
c.1494G= (p.Met498=)
c.2145G= (p.Met715=)
c.972G= (p.Met324=)
11g.68158132C>GCA381588502KMT5Bc.2001G>C (p.Met667Ile)
n.2566G>C
c.*1838G>C (n.*1838G>C)
c.*1881G>C (n.*1881G>C)
c.1698G>C (p.Met566Ile)
c.*1422G>C (n.*1422G>C)
c.2214G>C (p.Met738Ile)
c.1494G>C (p.Met498Ile)
c.2145G>C (p.Met715Ile)
c.972G>C (p.Met324Ile)
11g.68158132C>TCA381588504KMT5Bc.2001G>A (p.Met667Ile)
n.2566G>A
c.*1838G>A (n.*1838G>A)
c.*1881G>A (n.*1881G>A)
c.1698G>A (p.Met566Ile)
c.*1422G>A (n.*1422G>A)
c.2214G>A (p.Met738Ile)
c.1494G>A (p.Met498Ile)
c.2145G>A (p.Met715Ile)
c.972G>A (p.Met324Ile)
11g.68158133A>CCA381588506KMT5Bc.2000T>G (p.Met667Arg)
n.2565T>G
c.*1837T>G (n.*1837T>G)
c.*1880T>G (n.*1880T>G)
c.1697T>G (p.Met566Arg)
c.*1421T>G (n.*1421T>G)
c.2213T>G (p.Met738Arg)
c.1493T>G (p.Met498Arg)
c.2144T>G (p.Met715Arg)
c.971T>G (p.Met324Arg)
gnomAD v4
11g.68158133A>GCA381588508KMT5Bc.2000T>C (p.Met667Thr)
n.2565T>C
c.*1837T>C (n.*1837T>C)
c.*1880T>C (n.*1880T>C)
c.1697T>C (p.Met566Thr)
c.*1421T>C (n.*1421T>C)
c.2213T>C (p.Met738Thr)
c.1493T>C (p.Met498Thr)
c.2144T>C (p.Met715Thr)
c.971T>C (p.Met324Thr)
11g.68158133A>TCA381588510KMT5Bc.2000T>A (p.Met667Lys)
n.2565T>A
c.*1837T>A (n.*1837T>A)
c.*1880T>A (n.*1880T>A)
c.1697T>A (p.Met566Lys)
c.*1421T>A (n.*1421T>A)
c.2213T>A (p.Met738Lys)
c.1493T>A (p.Met498Lys)
c.2144T>A (p.Met715Lys)
c.971T>A (p.Met324Lys)
11g.68158134T>ACA381588513KMT5Bc.1999A>T (p.Met667Leu)
n.2564A>T
c.*1836A>T (n.*1836A>T)
c.*1879A>T (n.*1879A>T)
c.1696A>T (p.Met566Leu)
c.*1420A>T (n.*1420A>T)
c.2212A>T (p.Met738Leu)
c.1492A>T (p.Met498Leu)
c.2143A>T (p.Met715Leu)
c.970A>T (p.Met324Leu)
11g.68158134T>CCA381588515KMT5Bc.1999A>G (p.Met667Val)
n.2564A>G
c.*1836A>G (n.*1836A>G)
c.*1879A>G (n.*1879A>G)
c.1696A>G (p.Met566Val)
c.*1420A>G (n.*1420A>G)
c.2212A>G (p.Met738Val)
c.1492A>G (p.Met498Val)
c.2143A>G (p.Met715Val)
c.970A>G (p.Met324Val)
dbSNP gnomAD v4
11g.68158134T>GCA381588516KMT5Bc.1999A>C (p.Met667Leu)
n.2564A>C
c.*1836A>C (n.*1836A>C)
c.*1879A>C (n.*1879A>C)
c.1696A>C (p.Met566Leu)
c.*1420A>C (n.*1420A>C)
c.2212A>C (p.Met738Leu)
c.1492A>C (p.Met498Leu)
c.2143A>C (p.Met715Leu)
c.970A>C (p.Met324Leu)
11g.68158134T=CA1980500590KMT5Bc.1999A= (p.Met667=)
n.2564A=
c.*1836A= (n.*1836A=)
c.*1879A= (n.*1879A=)
c.1696A= (p.Met566=)
c.*1420A= (n.*1420A=)
c.2212A= (p.Met738=)
c.1492A= (p.Met498=)
c.2143A= (p.Met715=)
c.970A= (p.Met324=)
11g.68158135T>ACA475514969KMT5Bc.1998A>T (p.Gly666=)
n.2563A>T
c.*1835A>T (n.*1835A>T)
c.*1878A>T (n.*1878A>T)
c.1695A>T (p.Gly565=)
c.*1419A>T (n.*1419A>T)
c.2211A>T (p.Gly737=)
c.1491A>T (p.Gly497=)
c.2142A>T (p.Gly714=)
c.969A>T (p.Gly323=)
11g.68158135T>CCA475514970KMT5Bc.1998A>G (p.Gly666=)
n.2563A>G
c.*1835A>G (n.*1835A>G)
c.*1878A>G (n.*1878A>G)
c.1695A>G (p.Gly565=)
c.*1419A>G (n.*1419A>G)
c.2211A>G (p.Gly737=)
c.1491A>G (p.Gly497=)
c.2142A>G (p.Gly714=)
c.969A>G (p.Gly323=)
11g.68158135T>GCA475514971KMT5Bc.1998A>C (p.Gly666=)
n.2563A>C
c.*1835A>C (n.*1835A>C)
c.*1878A>C (n.*1878A>C)
c.1695A>C (p.Gly565=)
c.*1419A>C (n.*1419A>C)
c.2211A>C (p.Gly737=)
c.1491A>C (p.Gly497=)
c.2142A>C (p.Gly714=)
c.969A>C (p.Gly323=)
11g.68158136C>ACA381588523KMT5Bc.1997G>T (p.Gly666Val)
n.2562G>T
c.*1834G>T (n.*1834G>T)
c.*1877G>T (n.*1877G>T)
c.1694G>T (p.Gly565Val)
c.*1418G>T (n.*1418G>T)
c.2210G>T (p.Gly737Val)
c.1490G>T (p.Gly497Val)
c.2141G>T (p.Gly714Val)
c.968G>T (p.Gly323Val)
11g.68158136C>GCA381588519KMT5Bc.1997G>C (p.Gly666Ala)
n.2562G>C
c.*1834G>C (n.*1834G>C)
c.*1877G>C (n.*1877G>C)
c.1694G>C (p.Gly565Ala)
c.*1418G>C (n.*1418G>C)
c.2210G>C (p.Gly737Ala)
c.1490G>C (p.Gly497Ala)
c.2141G>C (p.Gly714Ala)
c.968G>C (p.Gly323Ala)
11g.68158136C>TCA381588521KMT5Bc.1997G>A (p.Gly666Glu)
n.2562G>A
c.*1834G>A (n.*1834G>A)
c.*1877G>A (n.*1877G>A)
c.1694G>A (p.Gly565Glu)
c.*1418G>A (n.*1418G>A)
c.2210G>A (p.Gly737Glu)
c.1490G>A (p.Gly497Glu)
c.2141G>A (p.Gly714Glu)
c.968G>A (p.Gly323Glu)
11g.68158137C>ACA381588525KMT5Bc.1996G>T (p.Gly666Ter)
n.2561G>T
c.*1833G>T (n.*1833G>T)
c.*1876G>T (n.*1876G>T)
c.1693G>T (p.Gly565Ter)
c.*1417G>T (n.*1417G>T)
c.2209G>T (p.Gly737Ter)
c.1489G>T (p.Gly497Ter)
c.2140G>T (p.Gly714Ter)
c.967G>T (p.Gly323Ter)
11g.68158137C>GCA381588527KMT5Bc.1996G>C (p.Gly666Arg)
n.2561G>C
c.*1833G>C (n.*1833G>C)
c.*1876G>C (n.*1876G>C)
c.1693G>C (p.Gly565Arg)
c.*1417G>C (n.*1417G>C)
c.2209G>C (p.Gly737Arg)
c.1489G>C (p.Gly497Arg)
c.2140G>C (p.Gly714Arg)
c.967G>C (p.Gly323Arg)
11g.68158137C>TCA381588529KMT5Bc.1996G>A (p.Gly666Arg)
n.2561G>A
c.*1833G>A (n.*1833G>A)
c.*1876G>A (n.*1876G>A)
c.1693G>A (p.Gly565Arg)
c.*1417G>A (n.*1417G>A)
c.2209G>A (p.Gly737Arg)
c.1489G>A (p.Gly497Arg)
c.2140G>A (p.Gly714Arg)
c.967G>A (p.Gly323Arg)
COSMIC COSMIC

Number of alleles fetched