Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
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)

Number of alleles fetched