Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.68157999G>A | CA381587874 | KMT5B | c.2134C>T (p.Arg712Ter) n.2699C>T c.*1971C>T (n.*1971C>T) c.*2014C>T (n.*2014C>T) c.1831C>T (p.Arg611Ter) c.*1555C>T (n.*1555C>T) c.2347C>T (p.Arg783Ter) c.1627C>T (p.Arg543Ter) c.2278C>T (p.Arg760Ter) c.1105C>T (p.Arg369Ter) | ClinVar dbSNP COSMIC COSMIC |
11 | g.68157999G>C | CA381587881 | KMT5B | c.2134C>G (p.Arg712Gly) n.2699C>G c.*1971C>G (n.*1971C>G) c.*2014C>G (n.*2014C>G) c.1831C>G (p.Arg611Gly) c.*1555C>G (n.*1555C>G) c.2347C>G (p.Arg783Gly) c.1627C>G (p.Arg543Gly) c.2278C>G (p.Arg760Gly) c.1105C>G (p.Arg369Gly) | |
11 | g.68157999G= | CA1980500390 | KMT5B | c.2134C= (p.Arg712=) n.2699C= c.*1971C= (n.*1971C=) c.*2014C= (n.*2014C=) c.1831C= (p.Arg611=) c.*1555C= (n.*1555C=) c.2347C= (p.Arg783=) c.1627C= (p.Arg543=) c.2278C= (p.Arg760=) c.1105C= (p.Arg369=) | |
11 | g.68157999G>T | CA475514751 | KMT5B | c.2134C>A (p.Arg712=) n.2699C>A c.*1971C>A (n.*1971C>A) c.*2014C>A (n.*2014C>A) c.1831C>A (p.Arg611=) c.*1555C>A (n.*1555C>A) c.2347C>A (p.Arg783=) c.1627C>A (p.Arg543=) c.2278C>A (p.Arg760=) c.1105C>A (p.Arg369=) | gnomAD v4 |
11 | g.68158000T>A | CA381587885 | KMT5B | c.2133A>T (p.Lys711Asn) n.2698A>T c.*1970A>T (n.*1970A>T) c.*2013A>T (n.*2013A>T) c.1830A>T (p.Lys610Asn) c.*1554A>T (n.*1554A>T) c.2346A>T (p.Lys782Asn) c.1626A>T (p.Lys542Asn) c.2277A>T (p.Lys759Asn) c.1104A>T (p.Lys368Asn) | |
11 | g.68158000T>C | CA475514752 | KMT5B | c.2133A>G (p.Lys711=) n.2698A>G c.*1970A>G (n.*1970A>G) c.*2013A>G (n.*2013A>G) c.1830A>G (p.Lys610=) c.*1554A>G (n.*1554A>G) c.2346A>G (p.Lys782=) c.1626A>G (p.Lys542=) c.2277A>G (p.Lys759=) c.1104A>G (p.Lys368=) | |
11 | g.68158000T>G | CA381587888 | KMT5B | c.2133A>C (p.Lys711Asn) n.2698A>C c.*1970A>C (n.*1970A>C) c.*2013A>C (n.*2013A>C) c.1830A>C (p.Lys610Asn) c.*1554A>C (n.*1554A>C) c.2346A>C (p.Lys782Asn) c.1626A>C (p.Lys542Asn) c.2277A>C (p.Lys759Asn) c.1104A>C (p.Lys368Asn) | |
11 | g.68158001T>A | CA381587891 | KMT5B | c.2132A>T (p.Lys711Ile) n.2697A>T c.*1969A>T (n.*1969A>T) c.*2012A>T (n.*2012A>T) c.1829A>T (p.Lys610Ile) c.*1553A>T (n.*1553A>T) c.2345A>T (p.Lys782Ile) c.1625A>T (p.Lys542Ile) c.2276A>T (p.Lys759Ile) c.1103A>T (p.Lys368Ile) | |
11 | g.68158001T>C | CA381587894 | KMT5B | c.2132A>G (p.Lys711Arg) n.2697A>G c.*1969A>G (n.*1969A>G) c.*2012A>G (n.*2012A>G) c.1829A>G (p.Lys610Arg) c.*1553A>G (n.*1553A>G) c.2345A>G (p.Lys782Arg) c.1625A>G (p.Lys542Arg) c.2276A>G (p.Lys759Arg) c.1103A>G (p.Lys368Arg) | |
11 | g.68158001T>G | CA381587897 | KMT5B | c.2132A>C (p.Lys711Thr) n.2697A>C c.*1969A>C (n.*1969A>C) c.*2012A>C (n.*2012A>C) c.1829A>C (p.Lys610Thr) c.*1553A>C (n.*1553A>C) c.2345A>C (p.Lys782Thr) c.1625A>C (p.Lys542Thr) c.2276A>C (p.Lys759Thr) c.1103A>C (p.Lys368Thr) | |
11 | g.68158002T>A | CA381587900 | KMT5B | c.2131A>T (p.Lys711Ter) n.2696A>T c.*1968A>T (n.*1968A>T) c.*2011A>T (n.*2011A>T) c.1828A>T (p.Lys610Ter) c.*1552A>T (n.*1552A>T) c.2344A>T (p.Lys782Ter) c.1624A>T (p.Lys542Ter) c.2275A>T (p.Lys759Ter) c.1102A>T (p.Lys368Ter) | |
11 | g.68158002T>C | CA381587902 | KMT5B | c.2131A>G (p.Lys711Glu) n.2696A>G c.*1968A>G (n.*1968A>G) c.*2011A>G (n.*2011A>G) c.1828A>G (p.Lys610Glu) c.*1552A>G (n.*1552A>G) c.2344A>G (p.Lys782Glu) c.1624A>G (p.Lys542Glu) c.2275A>G (p.Lys759Glu) c.1102A>G (p.Lys368Glu) | |
11 | g.68158002T>G | CA381587905 | KMT5B | c.2131A>C (p.Lys711Gln) n.2696A>C c.*1968A>C (n.*1968A>C) c.*2011A>C (n.*2011A>C) c.1828A>C (p.Lys610Gln) c.*1552A>C (n.*1552A>C) c.2344A>C (p.Lys782Gln) c.1624A>C (p.Lys542Gln) c.2275A>C (p.Lys759Gln) c.1102A>C (p.Lys368Gln) | |
11 | g.68158003T>A | CA475514753 | KMT5B | c.2130A>T (p.Leu710=) n.2695A>T c.*1967A>T (n.*1967A>T) c.*2010A>T (n.*2010A>T) c.1827A>T (p.Leu609=) c.*1551A>T (n.*1551A>T) c.2343A>T (p.Leu781=) c.1623A>T (p.Leu541=) c.2274A>T (p.Leu758=) c.1101A>T (p.Leu367=) | |
11 | g.68158003T>C | CA475514754 | KMT5B | c.2130A>G (p.Leu710=) n.2695A>G c.*1967A>G (n.*1967A>G) c.*2010A>G (n.*2010A>G) c.1827A>G (p.Leu609=) c.*1551A>G (n.*1551A>G) c.2343A>G (p.Leu781=) c.1623A>G (p.Leu541=) c.2274A>G (p.Leu758=) c.1101A>G (p.Leu367=) | |
11 | g.68158003T>G | CA475514755 | KMT5B | c.2130A>C (p.Leu710=) n.2695A>C c.*1967A>C (n.*1967A>C) c.*2010A>C (n.*2010A>C) c.1827A>C (p.Leu609=) c.*1551A>C (n.*1551A>C) c.2343A>C (p.Leu781=) c.1623A>C (p.Leu541=) c.2274A>C (p.Leu758=) c.1101A>C (p.Leu367=) | |
11 | g.68158004A>C | CA381587910 | KMT5B | c.2129T>G (p.Leu710Arg) n.2694T>G c.*1966T>G (n.*1966T>G) c.*2009T>G (n.*2009T>G) c.1826T>G (p.Leu609Arg) c.*1550T>G (n.*1550T>G) c.2342T>G (p.Leu781Arg) c.1622T>G (p.Leu541Arg) c.2273T>G (p.Leu758Arg) c.1100T>G (p.Leu367Arg) | |
11 | g.68158004A>G | CA381587909 | KMT5B | c.2129T>C (p.Leu710Pro) n.2694T>C c.*1966T>C (n.*1966T>C) c.*2009T>C (n.*2009T>C) c.1826T>C (p.Leu609Pro) c.*1550T>C (n.*1550T>C) c.2342T>C (p.Leu781Pro) c.1622T>C (p.Leu541Pro) c.2273T>C (p.Leu758Pro) c.1100T>C (p.Leu367Pro) | |
11 | g.68158004A>T | CA381587908 | KMT5B | c.2129T>A (p.Leu710Gln) n.2694T>A c.*1966T>A (n.*1966T>A) c.*2009T>A (n.*2009T>A) c.1826T>A (p.Leu609Gln) c.*1550T>A (n.*1550T>A) c.2342T>A (p.Leu781Gln) c.1622T>A (p.Leu541Gln) c.2273T>A (p.Leu758Gln) c.1100T>A (p.Leu367Gln) | |
11 | g.68158005G>A | CA475514756 | KMT5B | c.2128C>T (p.Leu710=) n.2693C>T c.*1965C>T (n.*1965C>T) c.*2008C>T (n.*2008C>T) c.1825C>T (p.Leu609=) c.*1549C>T (n.*1549C>T) c.2341C>T (p.Leu781=) c.1621C>T (p.Leu541=) c.2272C>T (p.Leu758=) c.1099C>T (p.Leu367=) | |
11 | g.68158005G>C | CA381587914 | KMT5B | c.2128C>G (p.Leu710Val) n.2693C>G c.*1965C>G (n.*1965C>G) c.*2008C>G (n.*2008C>G) c.1825C>G (p.Leu609Val) c.*1549C>G (n.*1549C>G) c.2341C>G (p.Leu781Val) c.1621C>G (p.Leu541Val) c.2272C>G (p.Leu758Val) c.1099C>G (p.Leu367Val) | |
11 | g.68158005G>T | CA381587917 | KMT5B | c.2128C>A (p.Leu710Ile) n.2693C>A c.*1965C>A (n.*1965C>A) c.*2008C>A (n.*2008C>A) c.1825C>A (p.Leu609Ile) c.*1549C>A (n.*1549C>A) c.2341C>A (p.Leu781Ile) c.1621C>A (p.Leu541Ile) c.2272C>A (p.Leu758Ile) c.1099C>A (p.Leu367Ile) | |
11 | g.68158006C>A | CA381587919 | KMT5B | c.2127G>T (p.Gln709His) n.2692G>T c.*1964G>T (n.*1964G>T) c.*2007G>T (n.*2007G>T) c.1824G>T (p.Gln608His) c.*1548G>T (n.*1548G>T) c.2340G>T (p.Gln780His) c.1620G>T (p.Gln540His) c.2271G>T (p.Gln757His) c.1098G>T (p.Gln366His) | |
11 | g.68158006C= | CA1980500396 | KMT5B | c.2127G= (p.Gln709=) n.2692G= c.*1964G= (n.*1964G=) c.*2007G= (n.*2007G=) c.1824G= (p.Gln608=) c.*1548G= (n.*1548G=) c.2340G= (p.Gln780=) c.1620G= (p.Gln540=) c.2271G= (p.Gln757=) c.1098G= (p.Gln366=) | |
11 | g.68158006C>G | CA381587920 | KMT5B | c.2127G>C (p.Gln709His) n.2692G>C c.*1964G>C (n.*1964G>C) c.*2007G>C (n.*2007G>C) c.1824G>C (p.Gln608His) c.*1548G>C (n.*1548G>C) c.2340G>C (p.Gln780His) c.1620G>C (p.Gln540His) c.2271G>C (p.Gln757His) c.1098G>C (p.Gln366His) | |
11 | g.68158006C>T | CA475514757 | KMT5B | c.2127G>A (p.Gln709=) n.2692G>A c.*1964G>A (n.*1964G>A) c.*2007G>A (n.*2007G>A) c.1824G>A (p.Gln608=) c.*1548G>A (n.*1548G>A) c.2340G>A (p.Gln780=) c.1620G>A (p.Gln540=) c.2271G>A (p.Gln757=) c.1098G>A (p.Gln366=) | dbSNP gnomAD v4 |
11 | g.68158007T>A | CA381587922 | KMT5B | c.2126A>T (p.Gln709Leu) n.2691A>T c.*1963A>T (n.*1963A>T) c.*2006A>T (n.*2006A>T) c.1823A>T (p.Gln608Leu) c.*1547A>T (n.*1547A>T) c.2339A>T (p.Gln780Leu) c.1619A>T (p.Gln540Leu) c.2270A>T (p.Gln757Leu) c.1097A>T (p.Gln366Leu) | |
11 | g.68158007T>C | CA381587924 | KMT5B | c.2126A>G (p.Gln709Arg) n.2691A>G c.*1963A>G (n.*1963A>G) c.*2006A>G (n.*2006A>G) c.1823A>G (p.Gln608Arg) c.*1547A>G (n.*1547A>G) c.2339A>G (p.Gln780Arg) c.1619A>G (p.Gln540Arg) c.2270A>G (p.Gln757Arg) c.1097A>G (p.Gln366Arg) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68158007T>G | CA381587927 | KMT5B | c.2126A>C (p.Gln709Pro) n.2691A>C c.*1963A>C (n.*1963A>C) c.*2006A>C (n.*2006A>C) c.1823A>C (p.Gln608Pro) c.*1547A>C (n.*1547A>C) c.2339A>C (p.Gln780Pro) c.1619A>C (p.Gln540Pro) c.2270A>C (p.Gln757Pro) c.1097A>C (p.Gln366Pro) | |
11 | g.68158007T= | CA1980500398 | KMT5B | c.2126A= (p.Gln709=) n.2691A= c.*1963A= (n.*1963A=) c.*2006A= (n.*2006A=) c.1823A= (p.Gln608=) c.*1547A= (n.*1547A=) c.2339A= (p.Gln780=) c.1619A= (p.Gln540=) c.2270A= (p.Gln757=) c.1097A= (p.Gln366=) | |
11 | g.68158008G>A | CA381587930 | KMT5B | c.2125C>T (p.Gln709Ter) n.2690C>T c.*1962C>T (n.*1962C>T) c.*2005C>T (n.*2005C>T) c.1822C>T (p.Gln608Ter) c.*1546C>T (n.*1546C>T) c.2338C>T (p.Gln780Ter) c.1618C>T (p.Gln540Ter) c.2269C>T (p.Gln757Ter) c.1096C>T (p.Gln366Ter) | |
11 | g.68158008G>C | CA381587931 | KMT5B | c.2125C>G (p.Gln709Glu) n.2690C>G c.*1962C>G (n.*1962C>G) c.*2005C>G (n.*2005C>G) c.1822C>G (p.Gln608Glu) c.*1546C>G (n.*1546C>G) c.2338C>G (p.Gln780Glu) c.1618C>G (p.Gln540Glu) c.2269C>G (p.Gln757Glu) c.1096C>G (p.Gln366Glu) | |
11 | g.68158008G>T | CA381587934 | KMT5B | c.2125C>A (p.Gln709Lys) n.2690C>A c.*1962C>A (n.*1962C>A) c.*2005C>A (n.*2005C>A) c.1822C>A (p.Gln608Lys) c.*1546C>A (n.*1546C>A) c.2338C>A (p.Gln780Lys) c.1618C>A (p.Gln540Lys) c.2269C>A (p.Gln757Lys) c.1096C>A (p.Gln366Lys) | |
11 | g.68158009G>A | CA475514758 | KMT5B | c.2124C>T (p.Ile708=) n.2689C>T c.*1961C>T (n.*1961C>T) c.*2004C>T (n.*2004C>T) c.1821C>T (p.Ile607=) c.*1545C>T (n.*1545C>T) c.2337C>T (p.Ile779=) c.1617C>T (p.Ile539=) c.2268C>T (p.Ile756=) c.1095C>T (p.Ile365=) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.68158009G>C | CA381587937 | KMT5B | c.2124C>G (p.Ile708Met) n.2689C>G c.*1961C>G (n.*1961C>G) c.*2004C>G (n.*2004C>G) c.1821C>G (p.Ile607Met) c.*1545C>G (n.*1545C>G) c.2337C>G (p.Ile779Met) c.1617C>G (p.Ile539Met) c.2268C>G (p.Ile756Met) c.1095C>G (p.Ile365Met) | |
11 | g.68158009G= | CA1980500403 | KMT5B | c.2124C= (p.Ile708=) n.2689C= c.*1961C= (n.*1961C=) c.*2004C= (n.*2004C=) c.1821C= (p.Ile607=) c.*1545C= (n.*1545C=) c.2337C= (p.Ile779=) c.1617C= (p.Ile539=) c.2268C= (p.Ile756=) c.1095C= (p.Ile365=) | |
11 | g.68158009G>T | CA475514759 | KMT5B | c.2124C>A (p.Ile708=) n.2689C>A c.*1961C>A (n.*1961C>A) c.*2004C>A (n.*2004C>A) c.1821C>A (p.Ile607=) c.*1545C>A (n.*1545C>A) c.2337C>A (p.Ile779=) c.1617C>A (p.Ile539=) c.2268C>A (p.Ile756=) c.1095C>A (p.Ile365=) | |
11 | g.68158010A>C | CA381587942 | KMT5B | c.2123T>G (p.Ile708Ser) n.2688T>G c.*1960T>G (n.*1960T>G) c.*2003T>G (n.*2003T>G) c.1820T>G (p.Ile607Ser) c.*1544T>G (n.*1544T>G) c.2336T>G (p.Ile779Ser) c.1616T>G (p.Ile539Ser) c.2267T>G (p.Ile756Ser) c.1094T>G (p.Ile365Ser) | |
11 | g.68158010A>G | CA381587944 | KMT5B | c.2123T>C (p.Ile708Thr) n.2688T>C c.*1960T>C (n.*1960T>C) c.*2003T>C (n.*2003T>C) c.1820T>C (p.Ile607Thr) c.*1544T>C (n.*1544T>C) c.2336T>C (p.Ile779Thr) c.1616T>C (p.Ile539Thr) c.2267T>C (p.Ile756Thr) c.1094T>C (p.Ile365Thr) | |
11 | g.68158010A>T | CA381587939 | KMT5B | c.2123T>A (p.Ile708Asn) n.2688T>A c.*1960T>A (n.*1960T>A) c.*2003T>A (n.*2003T>A) c.1820T>A (p.Ile607Asn) c.*1544T>A (n.*1544T>A) c.2336T>A (p.Ile779Asn) c.1616T>A (p.Ile539Asn) c.2267T>A (p.Ile756Asn) c.1094T>A (p.Ile365Asn) | |
11 | g.68158011T>A | CA381587949 | KMT5B | c.2122A>T (p.Ile708Phe) n.2687A>T c.*1959A>T (n.*1959A>T) c.*2002A>T (n.*2002A>T) c.1819A>T (p.Ile607Phe) c.*1543A>T (n.*1543A>T) c.2335A>T (p.Ile779Phe) c.1615A>T (p.Ile539Phe) c.2266A>T (p.Ile756Phe) c.1093A>T (p.Ile365Phe) | |
11 | g.68158011T>C | CA381587950 | KMT5B | c.2122A>G (p.Ile708Val) n.2687A>G c.*1959A>G (n.*1959A>G) c.*2002A>G (n.*2002A>G) c.1819A>G (p.Ile607Val) c.*1543A>G (n.*1543A>G) c.2335A>G (p.Ile779Val) c.1615A>G (p.Ile539Val) c.2266A>G (p.Ile756Val) c.1093A>G (p.Ile365Val) | gnomAD v4 |
11 | g.68158011T>G | CA381587953 | KMT5B | c.2122A>C (p.Ile708Leu) n.2687A>C c.*1959A>C (n.*1959A>C) c.*2002A>C (n.*2002A>C) c.1819A>C (p.Ile607Leu) c.*1543A>C (n.*1543A>C) c.2335A>C (p.Ile779Leu) c.1615A>C (p.Ile539Leu) c.2266A>C (p.Ile756Leu) c.1093A>C (p.Ile365Leu) | |
11 | g.68158012T>A | CA381587957 | KMT5B | c.2121A>T (p.Lys707Asn) n.2686A>T c.*1958A>T (n.*1958A>T) c.*2001A>T (n.*2001A>T) c.1818A>T (p.Lys606Asn) c.*1542A>T (n.*1542A>T) c.2334A>T (p.Lys778Asn) c.1614A>T (p.Lys538Asn) c.2265A>T (p.Lys755Asn) c.1092A>T (p.Lys364Asn) | |
11 | g.68158012T>C | CA475514760 | KMT5B | c.2121A>G (p.Lys707=) n.2686A>G c.*1958A>G (n.*1958A>G) c.*2001A>G (n.*2001A>G) c.1818A>G (p.Lys606=) c.*1542A>G (n.*1542A>G) c.2334A>G (p.Lys778=) c.1614A>G (p.Lys538=) c.2265A>G (p.Lys755=) c.1092A>G (p.Lys364=) | |
11 | g.68158012T>G | CA381587961 | KMT5B | c.2121A>C (p.Lys707Asn) n.2686A>C c.*1958A>C (n.*1958A>C) c.*2001A>C (n.*2001A>C) c.1818A>C (p.Lys606Asn) c.*1542A>C (n.*1542A>C) c.2334A>C (p.Lys778Asn) c.1614A>C (p.Lys538Asn) c.2265A>C (p.Lys755Asn) c.1092A>C (p.Lys364Asn) | |
11 | g.68158013T>A | CA381587962 | KMT5B | c.2120A>T (p.Lys707Ile) n.2685A>T c.*1957A>T (n.*1957A>T) c.*2000A>T (n.*2000A>T) c.1817A>T (p.Lys606Ile) c.*1541A>T (n.*1541A>T) c.2333A>T (p.Lys778Ile) c.1613A>T (p.Lys538Ile) c.2264A>T (p.Lys755Ile) c.1091A>T (p.Lys364Ile) | |
11 | g.68158013T>C | CA381587965 | KMT5B | c.2120A>G (p.Lys707Arg) n.2685A>G c.*1957A>G (n.*1957A>G) c.*2000A>G (n.*2000A>G) c.1817A>G (p.Lys606Arg) c.*1541A>G (n.*1541A>G) c.2333A>G (p.Lys778Arg) c.1613A>G (p.Lys538Arg) c.2264A>G (p.Lys755Arg) c.1091A>G (p.Lys364Arg) | COSMIC COSMIC |
11 | g.68158013T>G | CA381587968 | KMT5B | c.2120A>C (p.Lys707Thr) n.2685A>C c.*1957A>C (n.*1957A>C) c.*2000A>C (n.*2000A>C) c.1817A>C (p.Lys606Thr) c.*1541A>C (n.*1541A>C) c.2333A>C (p.Lys778Thr) c.1613A>C (p.Lys538Thr) c.2264A>C (p.Lys755Thr) c.1091A>C (p.Lys364Thr) | |
11 | g.68158014T>A | CA381587971 | KMT5B | c.2119A>T (p.Lys707Ter) n.2684A>T c.*1956A>T (n.*1956A>T) c.*1999A>T (n.*1999A>T) c.1816A>T (p.Lys606Ter) c.*1540A>T (n.*1540A>T) c.2332A>T (p.Lys778Ter) c.1612A>T (p.Lys538Ter) c.2263A>T (p.Lys755Ter) c.1090A>T (p.Lys364Ter) | |
11 | g.68158014T>C | CA381587974 | KMT5B | c.2119A>G (p.Lys707Glu) n.2684A>G c.*1956A>G (n.*1956A>G) c.*1999A>G (n.*1999A>G) c.1816A>G (p.Lys606Glu) c.*1540A>G (n.*1540A>G) c.2332A>G (p.Lys778Glu) c.1612A>G (p.Lys538Glu) c.2263A>G (p.Lys755Glu) c.1090A>G (p.Lys364Glu) | gnomAD v4 |
11 | g.68158014T>G | CA381587977 | KMT5B | c.2119A>C (p.Lys707Gln) n.2684A>C c.*1956A>C (n.*1956A>C) c.*1999A>C (n.*1999A>C) c.1816A>C (p.Lys606Gln) c.*1540A>C (n.*1540A>C) c.2332A>C (p.Lys778Gln) c.1612A>C (p.Lys538Gln) c.2263A>C (p.Lys755Gln) c.1090A>C (p.Lys364Gln) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68158014T= | CA1980500408 | KMT5B | c.2119A= (p.Lys707=) n.2684A= c.*1956A= (n.*1956A=) c.*1999A= (n.*1999A=) c.1816A= (p.Lys606=) c.*1540A= (n.*1540A=) c.2332A= (p.Lys778=) c.1612A= (p.Lys538=) c.2263A= (p.Lys755=) c.1090A= (p.Lys364=) | |
11 | g.68158015T>A | CA381587980 | KMT5B | c.2118A>T (p.Leu706Phe) n.2683A>T c.*1955A>T (n.*1955A>T) c.*1998A>T (n.*1998A>T) c.1815A>T (p.Leu605Phe) c.*1539A>T (n.*1539A>T) c.2331A>T (p.Leu777Phe) c.1611A>T (p.Leu537Phe) c.2262A>T (p.Leu754Phe) c.1089A>T (p.Leu363Phe) | dbSNP |
11 | g.68158015T>C | CA6148023 | KMT5B | c.2118A>G (p.Leu706=) n.2683A>G c.*1955A>G (n.*1955A>G) c.*1998A>G (n.*1998A>G) c.1815A>G (p.Leu605=) c.*1539A>G (n.*1539A>G) c.2331A>G (p.Leu777=) c.1611A>G (p.Leu537=) c.2262A>G (p.Leu754=) c.1089A>G (p.Leu363=) | dbSNP ExAC |
11 | g.68158015T>G | CA381587978 | KMT5B | c.2118A>C (p.Leu706Phe) n.2683A>C c.*1955A>C (n.*1955A>C) c.*1998A>C (n.*1998A>C) c.1815A>C (p.Leu605Phe) c.*1539A>C (n.*1539A>C) c.2331A>C (p.Leu777Phe) c.1611A>C (p.Leu537Phe) c.2262A>C (p.Leu754Phe) c.1089A>C (p.Leu363Phe) | |
11 | g.68158015T= | CA1980500413 | KMT5B | c.2118A= (p.Leu706=) n.2683A= c.*1955A= (n.*1955A=) c.*1998A= (n.*1998A=) c.1815A= (p.Leu605=) c.*1539A= (n.*1539A=) c.2331A= (p.Leu777=) c.1611A= (p.Leu537=) c.2262A= (p.Leu754=) c.1089A= (p.Leu363=) | |
11 | g.68158016A>C | CA381587984 | KMT5B | c.2117T>G (p.Leu706Ter) n.2682T>G c.*1954T>G (n.*1954T>G) c.*1997T>G (n.*1997T>G) c.1814T>G (p.Leu605Ter) c.*1538T>G (n.*1538T>G) c.2330T>G (p.Leu777Ter) c.1610T>G (p.Leu537Ter) c.2261T>G (p.Leu754Ter) c.1088T>G (p.Leu363Ter) | |
11 | g.68158016A>G | CA381587987 | KMT5B | c.2117T>C (p.Leu706Ser) n.2682T>C c.*1954T>C (n.*1954T>C) c.*1997T>C (n.*1997T>C) c.1814T>C (p.Leu605Ser) c.*1538T>C (n.*1538T>C) c.2330T>C (p.Leu777Ser) c.1610T>C (p.Leu537Ser) c.2261T>C (p.Leu754Ser) c.1088T>C (p.Leu363Ser) | gnomAD v4 |
11 | g.68158016A>T | CA381587989 | KMT5B | c.2117T>A (p.Leu706Ter) n.2682T>A c.*1954T>A (n.*1954T>A) c.*1997T>A (n.*1997T>A) c.1814T>A (p.Leu605Ter) c.*1538T>A (n.*1538T>A) c.2330T>A (p.Leu777Ter) c.1610T>A (p.Leu537Ter) c.2261T>A (p.Leu754Ter) c.1088T>A (p.Leu363Ter) | |
11 | g.68158017A>C | CA381587993 | KMT5B | c.2116T>G (p.Leu706Val) n.2681T>G c.*1953T>G (n.*1953T>G) c.*1996T>G (n.*1996T>G) c.1813T>G (p.Leu605Val) c.*1537T>G (n.*1537T>G) c.2329T>G (p.Leu777Val) c.1609T>G (p.Leu537Val) c.2260T>G (p.Leu754Val) c.1087T>G (p.Leu363Val) | |
11 | g.68158017A>G | CA475514761 | KMT5B | c.2116T>C (p.Leu706=) n.2681T>C c.*1953T>C (n.*1953T>C) c.*1996T>C (n.*1996T>C) c.1813T>C (p.Leu605=) c.*1537T>C (n.*1537T>C) c.2329T>C (p.Leu777=) c.1609T>C (p.Leu537=) c.2260T>C (p.Leu754=) c.1087T>C (p.Leu363=) | |
11 | g.68158017A>T | CA381587996 | KMT5B | c.2116T>A (p.Leu706Ile) n.2681T>A c.*1953T>A (n.*1953T>A) c.*1996T>A (n.*1996T>A) c.1813T>A (p.Leu605Ile) c.*1537T>A (n.*1537T>A) c.2329T>A (p.Leu777Ile) c.1609T>A (p.Leu537Ile) c.2260T>A (p.Leu754Ile) c.1087T>A (p.Leu363Ile) | |
11 | g.68158018T>A | CA381588000 | KMT5B | c.2115A>T (p.Lys705Asn) n.2680A>T c.*1952A>T (n.*1952A>T) c.*1995A>T (n.*1995A>T) c.1812A>T (p.Lys604Asn) c.*1536A>T (n.*1536A>T) c.2328A>T (p.Lys776Asn) c.1608A>T (p.Lys536Asn) c.2259A>T (p.Lys753Asn) c.1086A>T (p.Lys362Asn) | gnomAD v4 |
11 | g.68158018T>C | CA224248013 | KMT5B | c.2115A>G (p.Lys705=) n.2680A>G c.*1952A>G (n.*1952A>G) c.*1995A>G (n.*1995A>G) c.1812A>G (p.Lys604=) c.*1536A>G (n.*1536A>G) c.2328A>G (p.Lys776=) c.1608A>G (p.Lys536=) c.2259A>G (p.Lys753=) c.1086A>G (p.Lys362=) | dbSNP |
11 | g.68158018T>G | CA381587998 | KMT5B | c.2115A>C (p.Lys705Asn) n.2680A>C c.*1952A>C (n.*1952A>C) c.*1995A>C (n.*1995A>C) c.1812A>C (p.Lys604Asn) c.*1536A>C (n.*1536A>C) c.2328A>C (p.Lys776Asn) c.1608A>C (p.Lys536Asn) c.2259A>C (p.Lys753Asn) c.1086A>C (p.Lys362Asn) | |
11 | g.68158018T= | CA1980500415 | KMT5B | c.2115A= (p.Lys705=) n.2680A= c.*1952A= (n.*1952A=) c.*1995A= (n.*1995A=) c.1812A= (p.Lys604=) c.*1536A= (n.*1536A=) c.2328A= (p.Lys776=) c.1608A= (p.Lys536=) c.2259A= (p.Lys753=) c.1086A= (p.Lys362=) | |
11 | g.68158019T>A | CA381588003 | KMT5B | c.2114A>T (p.Lys705Ile) n.2679A>T c.*1951A>T (n.*1951A>T) c.*1994A>T (n.*1994A>T) c.1811A>T (p.Lys604Ile) c.*1535A>T (n.*1535A>T) c.2327A>T (p.Lys776Ile) c.1607A>T (p.Lys536Ile) c.2258A>T (p.Lys753Ile) c.1085A>T (p.Lys362Ile) | |
11 | g.68158019T>C | CA381588005 | KMT5B | c.2114A>G (p.Lys705Arg) n.2679A>G c.*1951A>G (n.*1951A>G) c.*1994A>G (n.*1994A>G) c.1811A>G (p.Lys604Arg) c.*1535A>G (n.*1535A>G) c.2327A>G (p.Lys776Arg) c.1607A>G (p.Lys536Arg) c.2258A>G (p.Lys753Arg) c.1085A>G (p.Lys362Arg) | |
11 | g.68158019T>G | CA381588006 | KMT5B | c.2114A>C (p.Lys705Thr) n.2679A>C c.*1951A>C (n.*1951A>C) c.*1994A>C (n.*1994A>C) c.1811A>C (p.Lys604Thr) c.*1535A>C (n.*1535A>C) c.2327A>C (p.Lys776Thr) c.1607A>C (p.Lys536Thr) c.2258A>C (p.Lys753Thr) c.1085A>C (p.Lys362Thr) | gnomAD v4 |
11 | g.68158020T>A | CA381588007 | KMT5B | c.2113A>T (p.Lys705Ter) n.2678A>T c.*1950A>T (n.*1950A>T) c.*1993A>T (n.*1993A>T) c.1810A>T (p.Lys604Ter) c.*1534A>T (n.*1534A>T) c.2326A>T (p.Lys776Ter) c.1606A>T (p.Lys536Ter) c.2257A>T (p.Lys753Ter) c.1084A>T (p.Lys362Ter) | |
11 | g.68158020T>C | CA381588008 | KMT5B | c.2113A>G (p.Lys705Glu) n.2678A>G c.*1950A>G (n.*1950A>G) c.*1993A>G (n.*1993A>G) c.1810A>G (p.Lys604Glu) c.*1534A>G (n.*1534A>G) c.2326A>G (p.Lys776Glu) c.1606A>G (p.Lys536Glu) c.2257A>G (p.Lys753Glu) c.1084A>G (p.Lys362Glu) | COSMIC |
11 | g.68158020T>G | CA381588009 | KMT5B | c.2113A>C (p.Lys705Gln) n.2678A>C c.*1950A>C (n.*1950A>C) c.*1993A>C (n.*1993A>C) c.1810A>C (p.Lys604Gln) c.*1534A>C (n.*1534A>C) c.2326A>C (p.Lys776Gln) c.1606A>C (p.Lys536Gln) c.2257A>C (p.Lys753Gln) c.1084A>C (p.Lys362Gln) | |
11 | g.68158021T>A | CA475514762 | KMT5B | c.2112A>T (p.Thr704=) n.2677A>T c.*1949A>T (n.*1949A>T) c.*1992A>T (n.*1992A>T) c.1809A>T (p.Thr603=) c.*1533A>T (n.*1533A>T) c.2325A>T (p.Thr775=) c.1605A>T (p.Thr535=) c.2256A>T (p.Thr752=) c.1083A>T (p.Thr361=) | |
11 | g.68158021T>C | CA475514763 | KMT5B | c.2112A>G (p.Thr704=) n.2677A>G c.*1949A>G (n.*1949A>G) c.*1992A>G (n.*1992A>G) c.1809A>G (p.Thr603=) c.*1533A>G (n.*1533A>G) c.2325A>G (p.Thr775=) c.1605A>G (p.Thr535=) c.2256A>G (p.Thr752=) c.1083A>G (p.Thr361=) | |
11 | g.68158021T>G | CA475514764 | KMT5B | c.2112A>C (p.Thr704=) n.2677A>C c.*1949A>C (n.*1949A>C) c.*1992A>C (n.*1992A>C) c.1809A>C (p.Thr603=) c.*1533A>C (n.*1533A>C) c.2325A>C (p.Thr775=) c.1605A>C (p.Thr535=) c.2256A>C (p.Thr752=) c.1083A>C (p.Thr361=) | |
11 | g.68158022G>A | CA381588016 | KMT5B | c.2111C>T (p.Thr704Ile) n.2676C>T c.*1948C>T (n.*1948C>T) c.*1991C>T (n.*1991C>T) c.1808C>T (p.Thr603Ile) c.*1532C>T (n.*1532C>T) c.2324C>T (p.Thr775Ile) c.1604C>T (p.Thr535Ile) c.2255C>T (p.Thr752Ile) c.1082C>T (p.Thr361Ile) | |
11 | g.68158022G>C | CA381588014 | KMT5B | c.2111C>G (p.Thr704Arg) n.2676C>G c.*1948C>G (n.*1948C>G) c.*1991C>G (n.*1991C>G) c.1808C>G (p.Thr603Arg) c.*1532C>G (n.*1532C>G) c.2324C>G (p.Thr775Arg) c.1604C>G (p.Thr535Arg) c.2255C>G (p.Thr752Arg) c.1082C>G (p.Thr361Arg) | |
11 | g.68158022G>T | CA381588012 | KMT5B | c.2111C>A (p.Thr704Lys) n.2676C>A c.*1948C>A (n.*1948C>A) c.*1991C>A (n.*1991C>A) c.1808C>A (p.Thr603Lys) c.*1532C>A (n.*1532C>A) c.2324C>A (p.Thr775Lys) c.1604C>A (p.Thr535Lys) c.2255C>A (p.Thr752Lys) c.1082C>A (p.Thr361Lys) | |
11 | g.68158023T>A | CA381588019 | KMT5B | c.2110A>T (p.Thr704Ser) n.2675A>T c.*1947A>T (n.*1947A>T) c.*1990A>T (n.*1990A>T) c.1807A>T (p.Thr603Ser) c.*1531A>T (n.*1531A>T) c.2323A>T (p.Thr775Ser) c.1603A>T (p.Thr535Ser) c.2254A>T (p.Thr752Ser) c.1081A>T (p.Thr361Ser) | |
11 | g.68158023T>C | CA381588024 | KMT5B | c.2110A>G (p.Thr704Ala) n.2675A>G c.*1947A>G (n.*1947A>G) c.*1990A>G (n.*1990A>G) c.1807A>G (p.Thr603Ala) c.*1531A>G (n.*1531A>G) c.2323A>G (p.Thr775Ala) c.1603A>G (p.Thr535Ala) c.2254A>G (p.Thr752Ala) c.1081A>G (p.Thr361Ala) | |
11 | g.68158023T>G | CA381588022 | KMT5B | c.2110A>C (p.Thr704Pro) n.2675A>C c.*1947A>C (n.*1947A>C) c.*1990A>C (n.*1990A>C) c.1807A>C (p.Thr603Pro) c.*1531A>C (n.*1531A>C) c.2323A>C (p.Thr775Pro) c.1603A>C (p.Thr535Pro) c.2254A>C (p.Thr752Pro) c.1081A>C (p.Thr361Pro) | |
11 | g.68158024A>C | CA475514765 | KMT5B | c.2109T>G (p.Ser703=) n.2674T>G c.*1946T>G (n.*1946T>G) c.*1989T>G (n.*1989T>G) c.1806T>G (p.Ser602=) c.*1530T>G (n.*1530T>G) c.2322T>G (p.Ser774=) c.1602T>G (p.Ser534=) c.2253T>G (p.Ser751=) c.1080T>G (p.Ser360=) | |
11 | g.68158024A>G | CA475514766 | KMT5B | c.2109T>C (p.Ser703=) n.2674T>C c.*1946T>C (n.*1946T>C) c.*1989T>C (n.*1989T>C) c.1806T>C (p.Ser602=) c.*1530T>C (n.*1530T>C) c.2322T>C (p.Ser774=) c.1602T>C (p.Ser534=) c.2253T>C (p.Ser751=) c.1080T>C (p.Ser360=) | |
11 | g.68158024A>T | CA475514767 | KMT5B | c.2109T>A (p.Ser703=) n.2674T>A c.*1946T>A (n.*1946T>A) c.*1989T>A (n.*1989T>A) c.1806T>A (p.Ser602=) c.*1530T>A (n.*1530T>A) c.2322T>A (p.Ser774=) c.1602T>A (p.Ser534=) c.2253T>A (p.Ser751=) c.1080T>A (p.Ser360=) | |
11 | g.68158025G>A | CA381588027 | KMT5B | c.2108C>T (p.Ser703Phe) n.2673C>T c.*1945C>T (n.*1945C>T) c.*1988C>T (n.*1988C>T) c.1805C>T (p.Ser602Phe) c.*1529C>T (n.*1529C>T) c.2321C>T (p.Ser774Phe) c.1601C>T (p.Ser534Phe) c.2252C>T (p.Ser751Phe) c.1079C>T (p.Ser360Phe) | |
11 | g.68158025G>C | CA381588030 | KMT5B | c.2108C>G (p.Ser703Cys) n.2673C>G c.*1945C>G (n.*1945C>G) c.*1988C>G (n.*1988C>G) c.1805C>G (p.Ser602Cys) c.*1529C>G (n.*1529C>G) c.2321C>G (p.Ser774Cys) c.1601C>G (p.Ser534Cys) c.2252C>G (p.Ser751Cys) c.1079C>G (p.Ser360Cys) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68158025G= | CA1980500431 | KMT5B | c.2108C= (p.Ser703=) n.2673C= c.*1945C= (n.*1945C=) c.*1988C= (n.*1988C=) c.1805C= (p.Ser602=) c.*1529C= (n.*1529C=) c.2321C= (p.Ser774=) c.1601C= (p.Ser534=) c.2252C= (p.Ser751=) c.1079C= (p.Ser360=) | |
11 | g.68158025G>T | CA381588033 | KMT5B | c.2108C>A (p.Ser703Tyr) n.2673C>A c.*1945C>A (n.*1945C>A) c.*1988C>A (n.*1988C>A) c.1805C>A (p.Ser602Tyr) c.*1529C>A (n.*1529C>A) c.2321C>A (p.Ser774Tyr) c.1601C>A (p.Ser534Tyr) c.2252C>A (p.Ser751Tyr) c.1079C>A (p.Ser360Tyr) | |
11 | g.68158026A>C | CA381588035 | KMT5B | c.2107T>G (p.Ser703Ala) n.2672T>G c.*1944T>G (n.*1944T>G) c.*1987T>G (n.*1987T>G) c.1804T>G (p.Ser602Ala) c.*1528T>G (n.*1528T>G) c.2320T>G (p.Ser774Ala) c.1600T>G (p.Ser534Ala) c.2251T>G (p.Ser751Ala) c.1078T>G (p.Ser360Ala) | |
11 | g.68158026A>G | CA381588038 | KMT5B | c.2107T>C (p.Ser703Pro) n.2672T>C c.*1944T>C (n.*1944T>C) c.*1987T>C (n.*1987T>C) c.1804T>C (p.Ser602Pro) c.*1528T>C (n.*1528T>C) c.2320T>C (p.Ser774Pro) c.1600T>C (p.Ser534Pro) c.2251T>C (p.Ser751Pro) c.1078T>C (p.Ser360Pro) | |
11 | g.68158026A>T | CA381588040 | KMT5B | c.2107T>A (p.Ser703Thr) n.2672T>A c.*1944T>A (n.*1944T>A) c.*1987T>A (n.*1987T>A) c.1804T>A (p.Ser602Thr) c.*1528T>A (n.*1528T>A) c.2320T>A (p.Ser774Thr) c.1600T>A (p.Ser534Thr) c.2251T>A (p.Ser751Thr) c.1078T>A (p.Ser360Thr) | |
11 | g.68158026_68158028del | CA2724554195 | KMT5B | c.2105_2107del (p.Ser702_Ser703delinsThr) n.2670_2672del c.*1942_*1944del (n.*1942_*1944del) c.*1985_*1987del (n.*1985_*1987del) c.1802_1804del (p.Ser601_Ser602delinsThr) c.*1526_*1528del (n.*1526_*1528del) c.2318_2320del (p.Ser773_Ser774delinsThr) c.1598_1600del (p.Ser533_Ser534delinsThr) c.2249_2251del (p.Ser750_Ser751delinsThr) c.1076_1078del (p.Ser359_Ser360delinsThr) | dbSNP |
11 | g.68158027A>C | CA381588042 | KMT5B | c.2106T>G (p.Ser702Arg) n.2671T>G c.*1943T>G (n.*1943T>G) c.*1986T>G (n.*1986T>G) c.1803T>G (p.Ser601Arg) c.*1527T>G (n.*1527T>G) c.2319T>G (p.Ser773Arg) c.1599T>G (p.Ser533Arg) c.2250T>G (p.Ser750Arg) c.1077T>G (p.Ser359Arg) | |
11 | g.68158027A>G | CA475514769 | KMT5B | c.2106T>C (p.Ser702=) n.2671T>C c.*1943T>C (n.*1943T>C) c.*1986T>C (n.*1986T>C) c.1803T>C (p.Ser601=) c.*1527T>C (n.*1527T>C) c.2319T>C (p.Ser773=) c.1599T>C (p.Ser533=) c.2250T>C (p.Ser750=) c.1077T>C (p.Ser359=) | gnomAD v4 |
11 | g.68158027A>T | CA381588044 | KMT5B | c.2106T>A (p.Ser702Arg) n.2671T>A c.*1943T>A (n.*1943T>A) c.*1986T>A (n.*1986T>A) c.1803T>A (p.Ser601Arg) c.*1527T>A (n.*1527T>A) c.2319T>A (p.Ser773Arg) c.1599T>A (p.Ser533Arg) c.2250T>A (p.Ser750Arg) c.1077T>A (p.Ser359Arg) | |
11 | g.68158028C>A | CA381588047 | KMT5B | c.2105G>T (p.Ser702Ile) n.2670G>T c.*1942G>T (n.*1942G>T) c.*1985G>T (n.*1985G>T) c.1802G>T (p.Ser601Ile) c.*1526G>T (n.*1526G>T) c.2318G>T (p.Ser773Ile) c.1598G>T (p.Ser533Ile) c.2249G>T (p.Ser750Ile) c.1076G>T (p.Ser359Ile) | |
11 | g.68158028C>G | CA381588049 | KMT5B | c.2105G>C (p.Ser702Thr) n.2670G>C c.*1942G>C (n.*1942G>C) c.*1985G>C (n.*1985G>C) c.1802G>C (p.Ser601Thr) c.*1526G>C (n.*1526G>C) c.2318G>C (p.Ser773Thr) c.1598G>C (p.Ser533Thr) c.2249G>C (p.Ser750Thr) c.1076G>C (p.Ser359Thr) | |
11 | g.68158028C>T | CA381588052 | KMT5B | c.2105G>A (p.Ser702Asn) n.2670G>A c.*1942G>A (n.*1942G>A) c.*1985G>A (n.*1985G>A) c.1802G>A (p.Ser601Asn) c.*1526G>A (n.*1526G>A) c.2318G>A (p.Ser773Asn) c.1598G>A (p.Ser533Asn) c.2249G>A (p.Ser750Asn) c.1076G>A (p.Ser359Asn) | |
11 | g.68158029T>A | CA381588060 | KMT5B | c.2104A>T (p.Ser702Cys) n.2669A>T c.*1941A>T (n.*1941A>T) c.*1984A>T (n.*1984A>T) c.1801A>T (p.Ser601Cys) c.*1525A>T (n.*1525A>T) c.2317A>T (p.Ser773Cys) c.1597A>T (p.Ser533Cys) c.2248A>T (p.Ser750Cys) c.1075A>T (p.Ser359Cys) | |
11 | g.68158029T>C | CA381588056 | KMT5B | c.2104A>G (p.Ser702Gly) n.2669A>G c.*1941A>G (n.*1941A>G) c.*1984A>G (n.*1984A>G) c.1801A>G (p.Ser601Gly) c.*1525A>G (n.*1525A>G) c.2317A>G (p.Ser773Gly) c.1597A>G (p.Ser533Gly) c.2248A>G (p.Ser750Gly) c.1075A>G (p.Ser359Gly) | |
11 | g.68158029T>G | CA381588059 | KMT5B | c.2104A>C (p.Ser702Arg) n.2669A>C c.*1941A>C (n.*1941A>C) c.*1984A>C (n.*1984A>C) c.1801A>C (p.Ser601Arg) c.*1525A>C (n.*1525A>C) c.2317A>C (p.Ser773Arg) c.1597A>C (p.Ser533Arg) c.2248A>C (p.Ser750Arg) c.1075A>C (p.Ser359Arg) | |
11 | g.68158030A>C | CA381588063 | KMT5B | c.2103T>G (p.Ser701Arg) n.2668T>G c.*1940T>G (n.*1940T>G) c.*1983T>G (n.*1983T>G) c.1800T>G (p.Ser600Arg) c.*1524T>G (n.*1524T>G) c.2316T>G (p.Ser772Arg) c.1596T>G (p.Ser532Arg) c.2247T>G (p.Ser749Arg) c.1074T>G (p.Ser358Arg) | |
11 | g.68158030A>G | CA475514770 | KMT5B | c.2103T>C (p.Ser701=) n.2668T>C c.*1940T>C (n.*1940T>C) c.*1983T>C (n.*1983T>C) c.1800T>C (p.Ser600=) c.*1524T>C (n.*1524T>C) c.2316T>C (p.Ser772=) c.1596T>C (p.Ser532=) c.2247T>C (p.Ser749=) c.1074T>C (p.Ser358=) | |
11 | g.68158030A>T | CA381588064 | KMT5B | c.2103T>A (p.Ser701Arg) n.2668T>A c.*1940T>A (n.*1940T>A) c.*1983T>A (n.*1983T>A) c.1800T>A (p.Ser600Arg) c.*1524T>A (n.*1524T>A) c.2316T>A (p.Ser772Arg) c.1596T>A (p.Ser532Arg) c.2247T>A (p.Ser749Arg) c.1074T>A (p.Ser358Arg) | |
11 | g.68158031C>A | CA381588068 | KMT5B | c.2102G>T (p.Ser701Ile) n.2667G>T c.*1939G>T (n.*1939G>T) c.*1982G>T (n.*1982G>T) c.1799G>T (p.Ser600Ile) c.*1523G>T (n.*1523G>T) c.2315G>T (p.Ser772Ile) c.1595G>T (p.Ser532Ile) c.2246G>T (p.Ser749Ile) c.1073G>T (p.Ser358Ile) | |
11 | g.68158031C>G | CA381588071 | KMT5B | c.2102G>C (p.Ser701Thr) n.2667G>C c.*1939G>C (n.*1939G>C) c.*1982G>C (n.*1982G>C) c.1799G>C (p.Ser600Thr) c.*1523G>C (n.*1523G>C) c.2315G>C (p.Ser772Thr) c.1595G>C (p.Ser532Thr) c.2246G>C (p.Ser749Thr) c.1073G>C (p.Ser358Thr) | |
11 | g.68158031C>T | CA381588073 | KMT5B | c.2102G>A (p.Ser701Asn) n.2667G>A c.*1939G>A (n.*1939G>A) c.*1982G>A (n.*1982G>A) c.1799G>A (p.Ser600Asn) c.*1523G>A (n.*1523G>A) c.2315G>A (p.Ser772Asn) c.1595G>A (p.Ser532Asn) c.2246G>A (p.Ser749Asn) c.1073G>A (p.Ser358Asn) | |
11 | g.68158032T>A | CA381588076 | KMT5B | c.2101A>T (p.Ser701Cys) n.2666A>T c.*1938A>T (n.*1938A>T) c.*1981A>T (n.*1981A>T) c.1798A>T (p.Ser600Cys) c.*1522A>T (n.*1522A>T) c.2314A>T (p.Ser772Cys) c.1594A>T (p.Ser532Cys) c.2245A>T (p.Ser749Cys) c.1072A>T (p.Ser358Cys) | |
11 | g.68158032T>C | CA381588078 | KMT5B | c.2101A>G (p.Ser701Gly) n.2666A>G c.*1938A>G (n.*1938A>G) c.*1981A>G (n.*1981A>G) c.1798A>G (p.Ser600Gly) c.*1522A>G (n.*1522A>G) c.2314A>G (p.Ser772Gly) c.1594A>G (p.Ser532Gly) c.2245A>G (p.Ser749Gly) c.1072A>G (p.Ser358Gly) | |
11 | g.68158032T>G | CA381588081 | KMT5B | c.2101A>C (p.Ser701Arg) n.2666A>C c.*1938A>C (n.*1938A>C) c.*1981A>C (n.*1981A>C) c.1798A>C (p.Ser600Arg) c.*1522A>C (n.*1522A>C) c.2314A>C (p.Ser772Arg) c.1594A>C (p.Ser532Arg) c.2245A>C (p.Ser749Arg) c.1072A>C (p.Ser358Arg) | |
11 | g.68158033G>A | CA475514771 | KMT5B | c.2100C>T (p.Gly700=) n.2665C>T c.*1937C>T (n.*1937C>T) c.*1980C>T (n.*1980C>T) c.1797C>T (p.Gly599=) c.*1521C>T (n.*1521C>T) c.2313C>T (p.Gly771=) c.1593C>T (p.Gly531=) c.2244C>T (p.Gly748=) c.1071C>T (p.Gly357=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68158033G>C | CA475514772 | KMT5B | c.2100C>G (p.Gly700=) n.2665C>G c.*1937C>G (n.*1937C>G) c.*1980C>G (n.*1980C>G) c.1797C>G (p.Gly599=) c.*1521C>G (n.*1521C>G) c.2313C>G (p.Gly771=) c.1593C>G (p.Gly531=) c.2244C>G (p.Gly748=) c.1071C>G (p.Gly357=) | |
11 | g.68158033G= | CA1980500437 | KMT5B | c.2100C= (p.Gly700=) n.2665C= c.*1937C= (n.*1937C=) c.*1980C= (n.*1980C=) c.1797C= (p.Gly599=) c.*1521C= (n.*1521C=) c.2313C= (p.Gly771=) c.1593C= (p.Gly531=) c.2244C= (p.Gly748=) c.1071C= (p.Gly357=) | |
11 | g.68158033G>T | CA475514773 | KMT5B | c.2100C>A (p.Gly700=) n.2665C>A c.*1937C>A (n.*1937C>A) c.*1980C>A (n.*1980C>A) c.1797C>A (p.Gly599=) c.*1521C>A (n.*1521C>A) c.2313C>A (p.Gly771=) c.1593C>A (p.Gly531=) c.2244C>A (p.Gly748=) c.1071C>A (p.Gly357=) | |
11 | g.68158034C>A | CA381588084 | KMT5B | c.2099G>T (p.Gly700Val) n.2664G>T c.*1936G>T (n.*1936G>T) c.*1979G>T (n.*1979G>T) c.1796G>T (p.Gly599Val) c.*1520G>T (n.*1520G>T) c.2312G>T (p.Gly771Val) c.1592G>T (p.Gly531Val) c.2243G>T (p.Gly748Val) c.1070G>T (p.Gly357Val) | |
11 | g.68158034C>G | CA381588086 | KMT5B | c.2099G>C (p.Gly700Ala) n.2664G>C c.*1936G>C (n.*1936G>C) c.*1979G>C (n.*1979G>C) c.1796G>C (p.Gly599Ala) c.*1520G>C (n.*1520G>C) c.2312G>C (p.Gly771Ala) c.1592G>C (p.Gly531Ala) c.2243G>C (p.Gly748Ala) c.1070G>C (p.Gly357Ala) | |
11 | g.68158034C>T | CA381588089 | KMT5B | c.2099G>A (p.Gly700Asp) n.2664G>A c.*1936G>A (n.*1936G>A) c.*1979G>A (n.*1979G>A) c.1796G>A (p.Gly599Asp) c.*1520G>A (n.*1520G>A) c.2312G>A (p.Gly771Asp) c.1592G>A (p.Gly531Asp) c.2243G>A (p.Gly748Asp) c.1070G>A (p.Gly357Asp) | gnomAD v4 |
11 | g.68158035C>A | CA381588094 | KMT5B | c.2098G>T (p.Gly700Cys) n.2663G>T c.*1935G>T (n.*1935G>T) c.*1978G>T (n.*1978G>T) c.1795G>T (p.Gly599Cys) c.*1519G>T (n.*1519G>T) c.2311G>T (p.Gly771Cys) c.1591G>T (p.Gly531Cys) c.2242G>T (p.Gly748Cys) c.1069G>T (p.Gly357Cys) | |
11 | g.68158035C= | CA1980500441 | KMT5B | c.2098G= (p.Gly700=) n.2663G= c.*1935G= (n.*1935G=) c.*1978G= (n.*1978G=) c.1795G= (p.Gly599=) c.*1519G= (n.*1519G=) c.2311G= (p.Gly771=) c.1591G= (p.Gly531=) c.2242G= (p.Gly748=) c.1069G= (p.Gly357=) | |
11 | g.68158035C>G | CA381588097 | KMT5B | c.2098G>C (p.Gly700Arg) n.2663G>C c.*1935G>C (n.*1935G>C) c.*1978G>C (n.*1978G>C) c.1795G>C (p.Gly599Arg) c.*1519G>C (n.*1519G>C) c.2311G>C (p.Gly771Arg) c.1591G>C (p.Gly531Arg) c.2242G>C (p.Gly748Arg) c.1069G>C (p.Gly357Arg) | |
11 | g.68158035C>T | CA6148024 | KMT5B | c.2098G>A (p.Gly700Ser) n.2663G>A c.*1935G>A (n.*1935G>A) c.*1978G>A (n.*1978G>A) c.1795G>A (p.Gly599Ser) c.*1519G>A (n.*1519G>A) c.2311G>A (p.Gly771Ser) c.1591G>A (p.Gly531Ser) c.2242G>A (p.Gly748Ser) c.1069G>A (p.Gly357Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68158036T>A | CA475514776 | KMT5B | c.2097A>T (p.Ser699=) n.2662A>T c.*1934A>T (n.*1934A>T) c.*1977A>T (n.*1977A>T) c.1794A>T (p.Ser598=) c.*1518A>T (n.*1518A>T) c.2310A>T (p.Ser770=) c.1590A>T (p.Ser530=) c.2241A>T (p.Ser747=) c.1068A>T (p.Ser356=) | |
11 | g.68158036T>C | CA475514777 | KMT5B | c.2097A>G (p.Ser699=) n.2662A>G c.*1934A>G (n.*1934A>G) c.*1977A>G (n.*1977A>G) c.1794A>G (p.Ser598=) c.*1518A>G (n.*1518A>G) c.2310A>G (p.Ser770=) c.1590A>G (p.Ser530=) c.2241A>G (p.Ser747=) c.1068A>G (p.Ser356=) | gnomAD v4 |
11 | g.68158036T>G | CA475514779 | KMT5B | c.2097A>C (p.Ser699=) n.2662A>C c.*1934A>C (n.*1934A>C) c.*1977A>C (n.*1977A>C) c.1794A>C (p.Ser598=) c.*1518A>C (n.*1518A>C) c.2310A>C (p.Ser770=) c.1590A>C (p.Ser530=) c.2241A>C (p.Ser747=) c.1068A>C (p.Ser356=) | |
11 | g.68158037G>A | CA381588100 | KMT5B | c.2096C>T (p.Ser699Leu) n.2661C>T c.*1933C>T (n.*1933C>T) c.*1976C>T (n.*1976C>T) c.1793C>T (p.Ser598Leu) c.*1517C>T (n.*1517C>T) c.2309C>T (p.Ser770Leu) c.1589C>T (p.Ser530Leu) c.2240C>T (p.Ser747Leu) c.1067C>T (p.Ser356Leu) | |
11 | g.68158037G>C | CA381588105 | KMT5B | c.2096C>G (p.Ser699Ter) n.2661C>G c.*1933C>G (n.*1933C>G) c.*1976C>G (n.*1976C>G) c.1793C>G (p.Ser598Ter) c.*1517C>G (n.*1517C>G) c.2309C>G (p.Ser770Ter) c.1589C>G (p.Ser530Ter) c.2240C>G (p.Ser747Ter) c.1067C>G (p.Ser356Ter) | |
11 | g.68158037G>T | CA381588106 | KMT5B | c.2096C>A (p.Ser699Ter) n.2661C>A c.*1933C>A (n.*1933C>A) c.*1976C>A (n.*1976C>A) c.1793C>A (p.Ser598Ter) c.*1517C>A (n.*1517C>A) c.2309C>A (p.Ser770Ter) c.1589C>A (p.Ser530Ter) c.2240C>A (p.Ser747Ter) c.1067C>A (p.Ser356Ter) | |
11 | g.68158038A>C | CA381588109 | KMT5B | c.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) | |
11 | g.68158038A>G | CA381588111 | KMT5B | c.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) | |
11 | g.68158038A>T | CA381588114 | KMT5B | c.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) | |
11 | g.68158039T>A | CA475514780 | KMT5B | c.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=) | |
11 | g.68158039T>C | CA475514782 | KMT5B | c.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=) | |
11 | g.68158039T>G | CA475514781 | KMT5B | c.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=) | |
11 | g.68158040C>A | CA381588117 | KMT5B | c.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) | |
11 | g.68158040C>G | CA381588119 | KMT5B | c.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 |
11 | g.68158040C>T | CA381588120 | KMT5B | c.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 |
11 | g.68158041C>A | CA381588121 | KMT5B | c.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) | |
11 | g.68158041C>G | CA381588123 | KMT5B | c.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) | |
11 | g.68158041C>T | CA381588126 | KMT5B | c.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) | |
11 | g.68158042T>A | CA475514786 | KMT5B | c.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=) | |
11 | g.68158042T>C | CA475514787 | KMT5B | c.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=) | |
11 | g.68158042T>G | CA475514788 | KMT5B | c.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=) | |
11 | g.68158043del | CA2614700511 | KMT5B | c.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 |
11 | g.68158043G>A | CA6148025 | KMT5B | c.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 |
11 | g.68158043G>C | CA381588129 | KMT5B | c.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) | |
11 | g.68158043G= | CA1980500447 | KMT5B | c.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=) | |
11 | g.68158043G>T | CA381588128 | KMT5B | c.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) | |
11 | g.68158044A>C | CA381588130 | KMT5B | c.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) | |
11 | g.68158044A>G | CA381588131 | KMT5B | c.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 |
11 | g.68158044A>T | CA381588133 | KMT5B | c.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) | |
11 | g.68158045G>A | CA475514790 | KMT5B | c.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=) | |
11 | g.68158045G>C | CA381588135 | KMT5B | c.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) | |
11 | g.68158045G>T | CA381588136 | KMT5B | c.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) | |
11 | g.68158046T>A | CA381588142 | KMT5B | c.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) | |
11 | g.68158046T>C | CA381588139 | KMT5B | c.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) | |
11 | g.68158046T>G | CA381588141 | KMT5B | c.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) | |
11 | g.68158047T>A | CA381588143 | KMT5B | c.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) | |
11 | g.68158047T>C | CA381588144 | KMT5B | c.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) | |
11 | g.68158047T>G | CA381588145 | KMT5B | c.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) | |
11 | g.68158048A>C | CA381588146 | KMT5B | c.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) | |
11 | g.68158048A>G | CA475514793 | KMT5B | c.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=) | |
11 | g.68158048A>T | CA381588147 | KMT5B | c.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) | |
11 | g.68158049A>C | CA381588152 | KMT5B | c.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) | |
11 | g.68158049A>G | CA381588151 | KMT5B | c.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) | |
11 | g.68158049A>T | CA381588149 | KMT5B | c.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) | |
11 | g.68158050A>C | CA381588153 | KMT5B | c.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) | |
11 | g.68158050A>G | CA381588155 | KMT5B | c.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) | |
11 | g.68158050A>T | CA381588154 | KMT5B | c.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) | |
11 | g.68158051T>A | CA475514797 | KMT5B | c.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=) | |
11 | g.68158051T>C | CA475514798 | KMT5B | c.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 |
11 | g.68158051T>G | CA475514799 | KMT5B | c.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=) | |
11 | g.68158051T= | CA1980500456 | KMT5B | c.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=) | |
11 | g.68158052C>A | CA381588156 | KMT5B | c.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) | |
11 | g.68158052C>G | CA381588157 | KMT5B | c.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) | |
11 | g.68158052C>T | CA381588158 | KMT5B | c.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) | |
11 | g.68158053C>A | CA381588159 | KMT5B | c.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) | |
11 | g.68158053C>G | CA381588160 | KMT5B | c.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) | |
11 | g.68158053C>T | CA381588161 | KMT5B | c.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) | |
11 | g.68158054A= | CA1980500460 | KMT5B | c.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=) | |
11 | g.68158054A>C | CA381588162 | KMT5B | c.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 |
11 | g.68158054A>G | CA475514801 | KMT5B | c.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 |
11 | g.68158054A>T | CA381588163 | KMT5B | c.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) | |
11 | g.68158055T>A | CA381588164 | KMT5B | c.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) | |
11 | g.68158055T>C | CA381588165 | KMT5B | c.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 |
11 | g.68158055T>G | CA381588166 | KMT5B | c.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) | |
11 | g.68158056T>A | CA381588167 | KMT5B | c.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) | |
11 | g.68158056T>C | CA381588168 | KMT5B | c.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) | |
11 | g.68158056T>G | CA381588169 | KMT5B | c.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) | |
11 | g.68158057A>C | CA381588171 | KMT5B | c.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) | |
11 | g.68158057A>G | CA475514802 | KMT5B | c.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 |
11 | g.68158057A>T | CA381588173 | KMT5B | c.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) | |
11 | g.68158058T>A | CA381588175 | KMT5B | c.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) | |
11 | g.68158058T>C | CA381588177 | KMT5B | c.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 |
11 | g.68158058T>G | CA381588179 | KMT5B | c.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) | |
11 | g.68158058T= | CA1980500464 | KMT5B | c.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=) | |
11 | g.68158059T>A | CA381588181 | KMT5B | c.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) | |
11 | g.68158059T>C | CA224248021 | KMT5B | c.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 |
11 | g.68158059T>G | CA381588184 | KMT5B | c.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) | |
11 | g.68158059T= | CA1980500470 | KMT5B | c.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=) | |
11 | g.68158060A>C | CA475514890 | KMT5B | c.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=) | |
11 | g.68158060A>G | CA475514891 | KMT5B | c.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=) | |
11 | g.68158060A>T | CA475514892 | KMT5B | c.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=) | |
11 | g.68158061A= | CA1980500473 | KMT5B | c.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=) | |
11 | g.68158061A>C | CA381588186 | KMT5B | c.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) | |
11 | g.68158061A>G | CA224248027 | KMT5B | c.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 |
11 | g.68158061A>T | CA381588189 | KMT5B | c.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) | |
11 | g.68158062G>A | CA224248029 | KMT5B | c.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 |
11 | g.68158062G>C | CA381588191 | KMT5B | c.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) | |
11 | g.68158062G= | CA1980500474 | KMT5B | c.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=) | |
11 | g.68158062G>T | CA381588193 | KMT5B | c.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) | |
11 | g.68158063C>A | CA381588195 | KMT5B | c.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 |
11 | g.68158063C>G | CA381588197 | KMT5B | c.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) | |
11 | g.68158063C>T | CA475514897 | KMT5B | c.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=) | |
11 | g.68158064T>A | CA381588199 | KMT5B | c.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) | |
11 | g.68158064T>C | CA381588200 | KMT5B | c.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) | |
11 | g.68158064T>G | CA381588202 | KMT5B | c.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) | |
11 | g.68158065T>A | CA381588205 | KMT5B | c.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) | |
11 | g.68158065T>C | CA381588207 | KMT5B | c.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) | |
11 | g.68158065T>G | CA381588209 | KMT5B | c.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) | |
11 | g.68158066T>A | CA475514898 | KMT5B | c.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=) | |
11 | g.68158066T>C | CA475514899 | KMT5B | c.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=) | |
11 | g.68158066T>G | CA475514900 | KMT5B | c.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=) | |
11 | g.68158067G>A | CA381588216 | KMT5B | c.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) | |
11 | g.68158067G>C | CA381588214 | KMT5B | c.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) | |
11 | g.68158067G>T | CA381588212 | KMT5B | c.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) | |
11 | g.68158068C>A | CA381588218 | KMT5B | c.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) | |
11 | g.68158068C= | CA1980500476 | KMT5B | c.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=) | |
11 | g.68158068C>G | CA381588220 | KMT5B | c.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) | |
11 | g.68158068C>T | CA6148026 | KMT5B | c.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 |
11 | g.68158069T>A | CA475514902 | KMT5B | c.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=) | |
11 | g.68158069T>C | CA475514904 | KMT5B | c.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=) | |
11 | g.68158069T>G | CA475514903 | KMT5B | c.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=) | |
11 | g.68158070A>C | CA381588223 | KMT5B | c.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) | |
11 | g.68158070A>G | CA381588225 | KMT5B | c.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) | |
11 | g.68158070A>T | CA381588227 | KMT5B | c.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) | |
11 | g.68158071C>A | CA381588229 | KMT5B | c.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) | |
11 | g.68158071C>G | CA381588232 | KMT5B | c.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) | |
11 | g.68158071C>T | CA381588231 | KMT5B | c.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) | |
11 | g.68158071_68158073delinsCAT | CA1980500479 | KMT5B | c.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=) | |
11 | g.68158072A>C | CA381588234 | KMT5B | c.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) | |
11 | g.68158072A>G | CA475514908 | KMT5B | c.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 |
11 | g.68158072A>T | CA381588236 | KMT5B | c.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 |
11 | g.68158073_68158074del | CA600238786 | KMT5B | c.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 |
11 | g.68158073T>A | CA381588238 | KMT5B | c.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) | |
11 | g.68158073T>C | CA6148027 | KMT5B | c.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 |
11 | g.68158073T>G | CA381588239 | KMT5B | c.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) | |
11 | g.68158073T= | CA1980500483 | KMT5B | c.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=) | |
11 | g.68158074A>C | CA381588242 | KMT5B | c.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 |
11 | g.68158074A>G | CA381588244 | KMT5B | c.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 |
11 | g.68158074A>T | CA381588246 | KMT5B | c.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) | |
11 | g.68158077_68158078del | CA2614700531 | KMT5B | c.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 |
11 | g.68158075G>A | CA475514914 | KMT5B | c.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=) | |
11 | g.68158075G>C | CA475514916 | KMT5B | c.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 |
11 | g.68158075G>T | CA475514917 | KMT5B | c.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=) | |
11 | g.68158076del | CA2573053552 | KMT5B | c.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 |
11 | g.68158076A>C | CA381588248 | KMT5B | c.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 |
11 | g.68158076A>G | CA381588251 | KMT5B | c.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) | |
11 | g.68158076A>T | CA381588253 | KMT5B | c.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) | |
11 | g.68158077G>A | CA381588255 | KMT5B | c.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) | |
11 | g.68158077G>C | CA381588258 | KMT5B | c.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) | |
11 | g.68158077G>T | CA381588257 | KMT5B | c.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) | |
11 | g.68158078A>C | CA381588260 | KMT5B | c.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) | |
11 | g.68158078A>G | CA475514918 | KMT5B | c.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=) | |
11 | g.68158078A>T | CA381588262 | KMT5B | c.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) | |
11 | g.68158079T>A | CA381588264 | KMT5B | c.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) | |
11 | g.68158079T>C | CA6148028 | KMT5B | c.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 |
11 | g.68158079T>G | CA381588266 | KMT5B | c.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) | |
11 | g.68158079T= | CA1980500487 | KMT5B | c.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=) | |
11 | g.68158080T>A | CA381588269 | KMT5B | c.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) | |
11 | g.68158080T>C | CA381588270 | KMT5B | c.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) | |
11 | g.68158080T>G | CA381588272 | KMT5B | c.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) | |
11 | g.68158081G>A | CA475514921 | KMT5B | c.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=) | |
11 | g.68158081G>C | CA381588274 | KMT5B | c.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) | |
11 | g.68158081G>T | CA381588276 | KMT5B | c.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) | |
11 | g.68158082T>A | CA381588278 | KMT5B | c.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) | |
11 | g.68158082T>C | CA6148029 | KMT5B | c.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 |
11 | g.68158082T>G | CA381588279 | KMT5B | c.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) | |
11 | g.68158082T= | CA1980500494 | KMT5B | c.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=) | |
11 | g.68158083T>A | CA381588285 | KMT5B | c.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) | |
11 | g.68158083T>C | CA381588282 | KMT5B | c.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 |
11 | g.68158083T>G | CA381588283 | KMT5B | c.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) | |
11 | g.68158084A>C | CA381588287 | KMT5B | c.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) | |
11 | g.68158084A>G | CA475514924 | KMT5B | c.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=) | |
11 | g.68158084A>T | CA381588289 | KMT5B | c.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) | |
11 | g.68158085T>A | CA381588291 | KMT5B | c.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 |
11 | g.68158085T>C | CA381588293 | KMT5B | c.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 |
11 | g.68158085T>G | CA381588294 | KMT5B | c.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) | |
11 | g.68158085T= | CA1980500506 | KMT5B | c.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=) | |
11 | g.68158086del | CA2695214893 | KMT5B | c.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) | |
11 | g.68158086C>A | CA381588296 | KMT5B | c.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) | |
11 | g.68158086C= | CA1980500513 | KMT5B | c.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=) | |
11 | g.68158086C>G | CA381588298 | KMT5B | c.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) | |
11 | g.68158086C>T | CA6148030 | KMT5B | c.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 |
11 | g.68158087G>A | CA6148031 | KMT5B | c.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 |
11 | g.68158087G>C | CA381588302 | KMT5B | c.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) | |
11 | g.68158087G= | CA1980500523 | KMT5B | c.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=) | |
11 | g.68158087G>T | CA381588304 | KMT5B | c.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) | |
11 | g.68158089_68158091del | CA2574900138 | KMT5B | c.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) | |
11 | g.68158088T>A | CA381588308 | KMT5B | c.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) | |
11 | g.68158088T>C | CA224248129 | KMT5B | c.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 |
11 | g.68158088T>G | CA381588306 | KMT5B | c.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) | |
11 | g.68158088T= | CA1980500528 | KMT5B | c.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=) | |
11 | g.68158089T>A | CA381588310 | KMT5B | c.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) | |
11 | g.68158089T>C | CA381588312 | KMT5B | c.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) | |
11 | g.68158089T>G | CA381588314 | KMT5B | c.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) | |
11 | g.68158090G>A | CA475514929 | KMT5B | c.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=) | |
11 | g.68158090G>C | CA381588315 | KMT5B | c.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 |
11 | g.68158090G>T | CA381588318 | KMT5B | c.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) | |
11 | g.68158091T>A | CA381588320 | KMT5B | c.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) | |
11 | g.68158091T>C | CA6148032 | KMT5B | c.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 |
11 | g.68158091T>G | CA381588323 | KMT5B | c.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) | |
11 | g.68158091T= | CA1980500530 | KMT5B | c.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=) | |
11 | g.68158092C>A | CA381588325 | KMT5B | c.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) | |
11 | g.68158092C>G | CA381588327 | KMT5B | c.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) | |
11 | g.68158092C>T | CA381588329 | KMT5B | c.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 |
11 | g.68158093A= | CA1980500533 | KMT5B | c.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=) | |
11 | g.68158093A>C | CA381588331 | KMT5B | c.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) | |
11 | g.68158093A>G | CA224248159 | KMT5B | c.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 |
11 | g.68158093A>T | CA381588333 | KMT5B | c.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) | |
11 | g.68158094T>A | CA381588338 | KMT5B | c.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) | |
11 | g.68158094T>C | CA381588336 | KMT5B | c.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 |
11 | g.68158094T>G | CA381588335 | KMT5B | c.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) | |
11 | g.68158095G>A | CA381588339 | KMT5B | c.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) | |
11 | g.68158095G>C | CA381588340 | KMT5B | c.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 |
11 | g.68158095G= | CA1980500535 | KMT5B | c.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=) | |
11 | g.68158095G>T | CA6148033 | KMT5B | c.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 |
11 | g.68158096G>A | CA475514934 | KMT5B | c.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 |
11 | g.68158096G>C | CA381588341 | KMT5B | c.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) | |
11 | g.68158096G= | CA1980500539 | KMT5B | c.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=) | |
11 | g.68158096G>T | CA381588342 | KMT5B | c.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) | |
11 | g.68158097T>A | CA381588345 | KMT5B | c.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) | |
11 | g.68158097T>C | CA381588347 | KMT5B | c.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) | |
11 | g.68158097T>G | CA381588349 | KMT5B | c.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) | |
11 | g.68158098C>A | CA381588351 | KMT5B | c.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) | |
11 | g.68158098C>G | CA381588352 | KMT5B | c.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) | |
11 | g.68158098C>T | CA381588354 | KMT5B | c.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) | |
11 | g.68158099T>A | CA381588356 | KMT5B | c.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) | |
11 | g.68158099T>C | CA475514937 | KMT5B | c.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=) | |
11 | g.68158099T>G | CA381588358 | KMT5B | c.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) |