Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
11 | g.68158100T>A | CA381588362 | KMT5B | c.2033A>T (p.Lys678Ile) n.2598A>T c.*1870A>T (n.*1870A>T) c.*1913A>T (n.*1913A>T) c.1730A>T (p.Lys577Ile) c.*1454A>T (n.*1454A>T) c.2246A>T (p.Lys749Ile) c.1526A>T (p.Lys509Ile) c.2177A>T (p.Lys726Ile) c.1004A>T (p.Lys335Ile) | |
11 | g.68158100T>C | CA381588361 | KMT5B | c.2033A>G (p.Lys678Arg) n.2598A>G c.*1870A>G (n.*1870A>G) c.*1913A>G (n.*1913A>G) c.1730A>G (p.Lys577Arg) c.*1454A>G (n.*1454A>G) c.2246A>G (p.Lys749Arg) c.1526A>G (p.Lys509Arg) c.2177A>G (p.Lys726Arg) c.1004A>G (p.Lys335Arg) | |
11 | g.68158100T>G | CA381588359 | KMT5B | c.2033A>C (p.Lys678Thr) n.2598A>C c.*1870A>C (n.*1870A>C) c.*1913A>C (n.*1913A>C) c.1730A>C (p.Lys577Thr) c.*1454A>C (n.*1454A>C) c.2246A>C (p.Lys749Thr) c.1526A>C (p.Lys509Thr) c.2177A>C (p.Lys726Thr) c.1004A>C (p.Lys335Thr) | dbSNP |
11 | g.68158100T= | CA1980500540 | KMT5B | c.2033A= (p.Lys678=) n.2598A= c.*1870A= (n.*1870A=) c.*1913A= (n.*1913A=) c.1730A= (p.Lys577=) c.*1454A= (n.*1454A=) c.2246A= (p.Lys749=) c.1526A= (p.Lys509=) c.2177A= (p.Lys726=) c.1004A= (p.Lys335=) | |
11 | g.68158101T>A | CA381588367 | KMT5B | c.2032A>T (p.Lys678Ter) n.2597A>T c.*1869A>T (n.*1869A>T) c.*1912A>T (n.*1912A>T) c.1729A>T (p.Lys577Ter) c.*1453A>T (n.*1453A>T) c.2245A>T (p.Lys749Ter) c.1525A>T (p.Lys509Ter) c.2176A>T (p.Lys726Ter) c.1003A>T (p.Lys335Ter) | |
11 | g.68158101T>C | CA381588365 | KMT5B | c.2032A>G (p.Lys678Glu) n.2597A>G c.*1869A>G (n.*1869A>G) c.*1912A>G (n.*1912A>G) c.1729A>G (p.Lys577Glu) c.*1453A>G (n.*1453A>G) c.2245A>G (p.Lys749Glu) c.1525A>G (p.Lys509Glu) c.2176A>G (p.Lys726Glu) c.1003A>G (p.Lys335Glu) | |
11 | g.68158101T>G | CA381588368 | KMT5B | c.2032A>C (p.Lys678Gln) n.2597A>C c.*1869A>C (n.*1869A>C) c.*1912A>C (n.*1912A>C) c.1729A>C (p.Lys577Gln) c.*1453A>C (n.*1453A>C) c.2245A>C (p.Lys749Gln) c.1525A>C (p.Lys509Gln) c.2176A>C (p.Lys726Gln) c.1003A>C (p.Lys335Gln) | |
11 | g.68158102G>A | CA475514939 | KMT5B | c.2031C>T (p.Ser677=) n.2596C>T c.*1868C>T (n.*1868C>T) c.*1911C>T (n.*1911C>T) c.1728C>T (p.Ser576=) c.*1452C>T (n.*1452C>T) c.2244C>T (p.Ser748=) c.1524C>T (p.Ser508=) c.2175C>T (p.Ser725=) c.1002C>T (p.Ser334=) | |
11 | g.68158102G>C | CA381588370 | KMT5B | c.2031C>G (p.Ser677Arg) n.2596C>G c.*1868C>G (n.*1868C>G) c.*1911C>G (n.*1911C>G) c.1728C>G (p.Ser576Arg) c.*1452C>G (n.*1452C>G) c.2244C>G (p.Ser748Arg) c.1524C>G (p.Ser508Arg) c.2175C>G (p.Ser725Arg) c.1002C>G (p.Ser334Arg) | |
11 | g.68158102G>T | CA381588372 | KMT5B | c.2031C>A (p.Ser677Arg) n.2596C>A c.*1868C>A (n.*1868C>A) c.*1911C>A (n.*1911C>A) c.1728C>A (p.Ser576Arg) c.*1452C>A (n.*1452C>A) c.2244C>A (p.Ser748Arg) c.1524C>A (p.Ser508Arg) c.2175C>A (p.Ser725Arg) c.1002C>A (p.Ser334Arg) | |
11 | g.68158103C>A | CA381588375 | KMT5B | c.2030G>T (p.Ser677Ile) n.2595G>T c.*1867G>T (n.*1867G>T) c.*1910G>T (n.*1910G>T) c.1727G>T (p.Ser576Ile) c.*1451G>T (n.*1451G>T) c.2243G>T (p.Ser748Ile) c.1523G>T (p.Ser508Ile) c.2174G>T (p.Ser725Ile) c.1001G>T (p.Ser334Ile) | |
11 | g.68158103C>G | CA381588378 | KMT5B | c.2030G>C (p.Ser677Thr) n.2595G>C c.*1867G>C (n.*1867G>C) c.*1910G>C (n.*1910G>C) c.1727G>C (p.Ser576Thr) c.*1451G>C (n.*1451G>C) c.2243G>C (p.Ser748Thr) c.1523G>C (p.Ser508Thr) c.2174G>C (p.Ser725Thr) c.1001G>C (p.Ser334Thr) | |
11 | g.68158103C>T | CA381588376 | KMT5B | c.2030G>A (p.Ser677Asn) n.2595G>A c.*1867G>A (n.*1867G>A) c.*1910G>A (n.*1910G>A) c.1727G>A (p.Ser576Asn) c.*1451G>A (n.*1451G>A) c.2243G>A (p.Ser748Asn) c.1523G>A (p.Ser508Asn) c.2174G>A (p.Ser725Asn) c.1001G>A (p.Ser334Asn) | gnomAD v4 |
11 | g.68158104T>A | CA381588381 | KMT5B | c.2029A>T (p.Ser677Cys) n.2594A>T c.*1866A>T (n.*1866A>T) c.*1909A>T (n.*1909A>T) c.1726A>T (p.Ser576Cys) c.*1450A>T (n.*1450A>T) c.2242A>T (p.Ser748Cys) c.1522A>T (p.Ser508Cys) c.2173A>T (p.Ser725Cys) c.1000A>T (p.Ser334Cys) | |
11 | g.68158104T>C | CA6148034 | KMT5B | c.2029A>G (p.Ser677Gly) n.2594A>G c.*1866A>G (n.*1866A>G) c.*1909A>G (n.*1909A>G) c.1726A>G (p.Ser576Gly) c.*1450A>G (n.*1450A>G) c.2242A>G (p.Ser748Gly) c.1522A>G (p.Ser508Gly) c.2173A>G (p.Ser725Gly) c.1000A>G (p.Ser334Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68158104T>G | CA381588382 | KMT5B | c.2029A>C (p.Ser677Arg) n.2594A>C c.*1866A>C (n.*1866A>C) c.*1909A>C (n.*1909A>C) c.1726A>C (p.Ser576Arg) c.*1450A>C (n.*1450A>C) c.2242A>C (p.Ser748Arg) c.1522A>C (p.Ser508Arg) c.2173A>C (p.Ser725Arg) c.1000A>C (p.Ser334Arg) | |
11 | g.68158104T= | CA1980500547 | KMT5B | c.2029A= (p.Ser677=) n.2594A= c.*1866A= (n.*1866A=) c.*1909A= (n.*1909A=) c.1726A= (p.Ser576=) c.*1450A= (n.*1450A=) c.2242A= (p.Ser748=) c.1522A= (p.Ser508=) c.2173A= (p.Ser725=) c.1000A= (p.Ser334=) | |
11 | g.68158105T>A | CA381588385 | KMT5B | c.2028A>T (p.Leu676Phe) n.2593A>T c.*1865A>T (n.*1865A>T) c.*1908A>T (n.*1908A>T) c.1725A>T (p.Leu575Phe) c.*1449A>T (n.*1449A>T) c.2241A>T (p.Leu747Phe) c.1521A>T (p.Leu507Phe) c.2172A>T (p.Leu724Phe) c.999A>T (p.Leu333Phe) | |
11 | g.68158105T>C | CA475514941 | KMT5B | c.2028A>G (p.Leu676=) n.2593A>G c.*1865A>G (n.*1865A>G) c.*1908A>G (n.*1908A>G) c.1725A>G (p.Leu575=) c.*1449A>G (n.*1449A>G) c.2241A>G (p.Leu747=) c.1521A>G (p.Leu507=) c.2172A>G (p.Leu724=) c.999A>G (p.Leu333=) | gnomAD v4 |
11 | g.68158105T>G | CA381588387 | KMT5B | c.2028A>C (p.Leu676Phe) n.2593A>C c.*1865A>C (n.*1865A>C) c.*1908A>C (n.*1908A>C) c.1725A>C (p.Leu575Phe) c.*1449A>C (n.*1449A>C) c.2241A>C (p.Leu747Phe) c.1521A>C (p.Leu507Phe) c.2172A>C (p.Leu724Phe) c.999A>C (p.Leu333Phe) | |
11 | g.68158106A>C | CA381588388 | KMT5B | c.2027T>G (p.Leu676Ter) n.2592T>G c.*1864T>G (n.*1864T>G) c.*1907T>G (n.*1907T>G) c.1724T>G (p.Leu575Ter) c.*1448T>G (n.*1448T>G) c.2240T>G (p.Leu747Ter) c.1520T>G (p.Leu507Ter) c.2171T>G (p.Leu724Ter) c.998T>G (p.Leu333Ter) | gnomAD v4 |
11 | g.68158106A>G | CA381588390 | KMT5B | c.2027T>C (p.Leu676Ser) n.2592T>C c.*1864T>C (n.*1864T>C) c.*1907T>C (n.*1907T>C) c.1724T>C (p.Leu575Ser) c.*1448T>C (n.*1448T>C) c.2240T>C (p.Leu747Ser) c.1520T>C (p.Leu507Ser) c.2171T>C (p.Leu724Ser) c.998T>C (p.Leu333Ser) | |
11 | g.68158106A>T | CA381588391 | KMT5B | c.2027T>A (p.Leu676Ter) n.2592T>A c.*1864T>A (n.*1864T>A) c.*1907T>A (n.*1907T>A) c.1724T>A (p.Leu575Ter) c.*1448T>A (n.*1448T>A) c.2240T>A (p.Leu747Ter) c.1520T>A (p.Leu507Ter) c.2171T>A (p.Leu724Ter) c.998T>A (p.Leu333Ter) | |
11 | g.68158107A>C | CA381588393 | KMT5B | c.2026T>G (p.Leu676Val) n.2591T>G c.*1863T>G (n.*1863T>G) c.*1906T>G (n.*1906T>G) c.1723T>G (p.Leu575Val) c.*1447T>G (n.*1447T>G) c.2239T>G (p.Leu747Val) c.1519T>G (p.Leu507Val) c.2170T>G (p.Leu724Val) c.997T>G (p.Leu333Val) | |
11 | g.68158107A>G | CA475514943 | KMT5B | c.2026T>C (p.Leu676=) n.2591T>C c.*1863T>C (n.*1863T>C) c.*1906T>C (n.*1906T>C) c.1723T>C (p.Leu575=) c.*1447T>C (n.*1447T>C) c.2239T>C (p.Leu747=) c.1519T>C (p.Leu507=) c.2170T>C (p.Leu724=) c.997T>C (p.Leu333=) | |
11 | g.68158107A>T | CA381588394 | KMT5B | c.2026T>A (p.Leu676Ile) n.2591T>A c.*1863T>A (n.*1863T>A) c.*1906T>A (n.*1906T>A) c.1723T>A (p.Leu575Ile) c.*1447T>A (n.*1447T>A) c.2239T>A (p.Leu747Ile) c.1519T>A (p.Leu507Ile) c.2170T>A (p.Leu724Ile) c.997T>A (p.Leu333Ile) | |
11 | g.68158108C>A | CA381588397 | KMT5B | c.2025G>T (p.Lys675Asn) n.2590G>T c.*1862G>T (n.*1862G>T) c.*1905G>T (n.*1905G>T) c.1722G>T (p.Lys574Asn) c.*1446G>T (n.*1446G>T) c.2238G>T (p.Lys746Asn) c.1518G>T (p.Lys506Asn) c.2169G>T (p.Lys723Asn) c.996G>T (p.Lys332Asn) | |
11 | g.68158108C= | CA1980500553 | KMT5B | c.2025G= (p.Lys675=) n.2590G= c.*1862G= (n.*1862G=) c.*1905G= (n.*1905G=) c.1722G= (p.Lys574=) c.*1446G= (n.*1446G=) c.2238G= (p.Lys746=) c.1518G= (p.Lys506=) c.2169G= (p.Lys723=) c.996G= (p.Lys332=) | |
11 | g.68158108C>G | CA381588399 | KMT5B | c.2025G>C (p.Lys675Asn) n.2590G>C c.*1862G>C (n.*1862G>C) c.*1905G>C (n.*1905G>C) c.1722G>C (p.Lys574Asn) c.*1446G>C (n.*1446G>C) c.2238G>C (p.Lys746Asn) c.1518G>C (p.Lys506Asn) c.2169G>C (p.Lys723Asn) c.996G>C (p.Lys332Asn) | |
11 | g.68158108C>T | CA475514944 | KMT5B | c.2025G>A (p.Lys675=) n.2590G>A c.*1862G>A (n.*1862G>A) c.*1905G>A (n.*1905G>A) c.1722G>A (p.Lys574=) c.*1446G>A (n.*1446G>A) c.2238G>A (p.Lys746=) c.1518G>A (p.Lys506=) c.2169G>A (p.Lys723=) c.996G>A (p.Lys332=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68158109T>A | CA381588400 | KMT5B | c.2024A>T (p.Lys675Met) n.2589A>T c.*1861A>T (n.*1861A>T) c.*1904A>T (n.*1904A>T) c.1721A>T (p.Lys574Met) c.*1445A>T (n.*1445A>T) c.2237A>T (p.Lys746Met) c.1517A>T (p.Lys506Met) c.2168A>T (p.Lys723Met) c.995A>T (p.Lys332Met) | |
11 | g.68158109T>C | CA381588403 | KMT5B | c.2024A>G (p.Lys675Arg) n.2589A>G c.*1861A>G (n.*1861A>G) c.*1904A>G (n.*1904A>G) c.1721A>G (p.Lys574Arg) c.*1445A>G (n.*1445A>G) c.2237A>G (p.Lys746Arg) c.1517A>G (p.Lys506Arg) c.2168A>G (p.Lys723Arg) c.995A>G (p.Lys332Arg) | dbSNP gnomAD v4 |
11 | g.68158109T>G | CA381588404 | KMT5B | c.2024A>C (p.Lys675Thr) n.2589A>C c.*1861A>C (n.*1861A>C) c.*1904A>C (n.*1904A>C) c.1721A>C (p.Lys574Thr) c.*1445A>C (n.*1445A>C) c.2237A>C (p.Lys746Thr) c.1517A>C (p.Lys506Thr) c.2168A>C (p.Lys723Thr) c.995A>C (p.Lys332Thr) | |
11 | g.68158109T= | CA1980500555 | KMT5B | c.2024A= (p.Lys675=) n.2589A= c.*1861A= (n.*1861A=) c.*1904A= (n.*1904A=) c.1721A= (p.Lys574=) c.*1445A= (n.*1445A=) c.2237A= (p.Lys746=) c.1517A= (p.Lys506=) c.2168A= (p.Lys723=) c.995A= (p.Lys332=) | |
11 | g.68158110T>A | CA381588407 | KMT5B | c.2023A>T (p.Lys675Ter) n.2588A>T c.*1860A>T (n.*1860A>T) c.*1903A>T (n.*1903A>T) c.1720A>T (p.Lys574Ter) c.*1444A>T (n.*1444A>T) c.2236A>T (p.Lys746Ter) c.1516A>T (p.Lys506Ter) c.2167A>T (p.Lys723Ter) c.994A>T (p.Lys332Ter) | |
11 | g.68158110T>C | CA381588409 | KMT5B | c.2023A>G (p.Lys675Glu) n.2588A>G c.*1860A>G (n.*1860A>G) c.*1903A>G (n.*1903A>G) c.1720A>G (p.Lys574Glu) c.*1444A>G (n.*1444A>G) c.2236A>G (p.Lys746Glu) c.1516A>G (p.Lys506Glu) c.2167A>G (p.Lys723Glu) c.994A>G (p.Lys332Glu) | |
11 | g.68158110T>G | CA381588410 | KMT5B | c.2023A>C (p.Lys675Gln) n.2588A>C c.*1860A>C (n.*1860A>C) c.*1903A>C (n.*1903A>C) c.1720A>C (p.Lys574Gln) c.*1444A>C (n.*1444A>C) c.2236A>C (p.Lys746Gln) c.1516A>C (p.Lys506Gln) c.2167A>C (p.Lys723Gln) c.994A>C (p.Lys332Gln) | dbSNP gnomAD v4 |
11 | g.68158110T= | CA1980500558 | KMT5B | c.2023A= (p.Lys675=) n.2588A= c.*1860A= (n.*1860A=) c.*1903A= (n.*1903A=) c.1720A= (p.Lys574=) c.*1444A= (n.*1444A=) c.2236A= (p.Lys746=) c.1516A= (p.Lys506=) c.2167A= (p.Lys723=) c.994A= (p.Lys332=) | |
11 | g.68158111G>A | CA475514946 | KMT5B | c.2022C>T (p.Ile674=) n.2587C>T c.*1859C>T (n.*1859C>T) c.*1902C>T (n.*1902C>T) c.1719C>T (p.Ile573=) c.*1443C>T (n.*1443C>T) c.2235C>T (p.Ile745=) c.1515C>T (p.Ile505=) c.2166C>T (p.Ile722=) c.993C>T (p.Ile331=) | |
11 | g.68158111G>C | CA381588413 | KMT5B | c.2022C>G (p.Ile674Met) n.2587C>G c.*1859C>G (n.*1859C>G) c.*1902C>G (n.*1902C>G) c.1719C>G (p.Ile573Met) c.*1443C>G (n.*1443C>G) c.2235C>G (p.Ile745Met) c.1515C>G (p.Ile505Met) c.2166C>G (p.Ile722Met) c.993C>G (p.Ile331Met) | |
11 | g.68158111G= | CA1980500561 | KMT5B | c.2022C= (p.Ile674=) n.2587C= c.*1859C= (n.*1859C=) c.*1902C= (n.*1902C=) c.1719C= (p.Ile573=) c.*1443C= (n.*1443C=) c.2235C= (p.Ile745=) c.1515C= (p.Ile505=) c.2166C= (p.Ile722=) c.993C= (p.Ile331=) | |
11 | g.68158111G>T | CA475514947 | KMT5B | c.2022C>A (p.Ile674=) n.2587C>A c.*1859C>A (n.*1859C>A) c.*1902C>A (n.*1902C>A) c.1719C>A (p.Ile573=) c.*1443C>A (n.*1443C>A) c.2235C>A (p.Ile745=) c.1515C>A (p.Ile505=) c.2166C>A (p.Ile722=) c.993C>A (p.Ile331=) | dbSNP gnomAD v4 |
11 | g.68158112A>C | CA381588415 | KMT5B | c.2021T>G (p.Ile674Ser) n.2586T>G c.*1858T>G (n.*1858T>G) c.*1901T>G (n.*1901T>G) c.1718T>G (p.Ile573Ser) c.*1442T>G (n.*1442T>G) c.2234T>G (p.Ile745Ser) c.1514T>G (p.Ile505Ser) c.2165T>G (p.Ile722Ser) c.992T>G (p.Ile331Ser) | |
11 | g.68158112A>G | CA381588417 | KMT5B | c.2021T>C (p.Ile674Thr) n.2586T>C c.*1858T>C (n.*1858T>C) c.*1901T>C (n.*1901T>C) c.1718T>C (p.Ile573Thr) c.*1442T>C (n.*1442T>C) c.2234T>C (p.Ile745Thr) c.1514T>C (p.Ile505Thr) c.2165T>C (p.Ile722Thr) c.992T>C (p.Ile331Thr) | gnomAD v4 |
11 | g.68158112A>T | CA381588419 | KMT5B | c.2021T>A (p.Ile674Asn) n.2586T>A c.*1858T>A (n.*1858T>A) c.*1901T>A (n.*1901T>A) c.1718T>A (p.Ile573Asn) c.*1442T>A (n.*1442T>A) c.2234T>A (p.Ile745Asn) c.1514T>A (p.Ile505Asn) c.2165T>A (p.Ile722Asn) c.992T>A (p.Ile331Asn) | |
11 | g.68158113T>A | CA381588420 | KMT5B | c.2020A>T (p.Ile674Phe) n.2585A>T c.*1857A>T (n.*1857A>T) c.*1900A>T (n.*1900A>T) c.1717A>T (p.Ile573Phe) c.*1441A>T (n.*1441A>T) c.2233A>T (p.Ile745Phe) c.1513A>T (p.Ile505Phe) c.2164A>T (p.Ile722Phe) c.991A>T (p.Ile331Phe) | |
11 | g.68158113T>C | CA381588422 | KMT5B | c.2020A>G (p.Ile674Val) n.2585A>G c.*1857A>G (n.*1857A>G) c.*1900A>G (n.*1900A>G) c.1717A>G (p.Ile573Val) c.*1441A>G (n.*1441A>G) c.2233A>G (p.Ile745Val) c.1513A>G (p.Ile505Val) c.2164A>G (p.Ile722Val) c.991A>G (p.Ile331Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68158113T>G | CA381588424 | KMT5B | c.2020A>C (p.Ile674Leu) n.2585A>C c.*1857A>C (n.*1857A>C) c.*1900A>C (n.*1900A>C) c.1717A>C (p.Ile573Leu) c.*1441A>C (n.*1441A>C) c.2233A>C (p.Ile745Leu) c.1513A>C (p.Ile505Leu) c.2164A>C (p.Ile722Leu) c.991A>C (p.Ile331Leu) | |
11 | g.68158113T= | CA1980500566 | KMT5B | c.2020A= (p.Ile674=) n.2585A= c.*1857A= (n.*1857A=) c.*1900A= (n.*1900A=) c.1717A= (p.Ile573=) c.*1441A= (n.*1441A=) c.2233A= (p.Ile745=) c.1513A= (p.Ile505=) c.2164A= (p.Ile722=) c.991A= (p.Ile331=) | |
11 | g.68158114G>A | CA475514948 | KMT5B | c.2019C>T (p.Ser673=) n.2584C>T c.*1856C>T (n.*1856C>T) c.*1899C>T (n.*1899C>T) c.1716C>T (p.Ser572=) c.*1440C>T (n.*1440C>T) c.2232C>T (p.Ser744=) c.1512C>T (p.Ser504=) c.2163C>T (p.Ser721=) c.990C>T (p.Ser330=) | |
11 | g.68158114G>C | CA381588426 | KMT5B | c.2019C>G (p.Ser673Arg) n.2584C>G c.*1856C>G (n.*1856C>G) c.*1899C>G (n.*1899C>G) c.1716C>G (p.Ser572Arg) c.*1440C>G (n.*1440C>G) c.2232C>G (p.Ser744Arg) c.1512C>G (p.Ser504Arg) c.2163C>G (p.Ser721Arg) c.990C>G (p.Ser330Arg) | COSMIC COSMIC |
11 | g.68158114G>T | CA381588428 | KMT5B | c.2019C>A (p.Ser673Arg) n.2584C>A c.*1856C>A (n.*1856C>A) c.*1899C>A (n.*1899C>A) c.1716C>A (p.Ser572Arg) c.*1440C>A (n.*1440C>A) c.2232C>A (p.Ser744Arg) c.1512C>A (p.Ser504Arg) c.2163C>A (p.Ser721Arg) c.990C>A (p.Ser330Arg) | |
11 | g.68158115C>A | CA381588430 | KMT5B | c.2018G>T (p.Ser673Ile) n.2583G>T c.*1855G>T (n.*1855G>T) c.*1898G>T (n.*1898G>T) c.1715G>T (p.Ser572Ile) c.*1439G>T (n.*1439G>T) c.2231G>T (p.Ser744Ile) c.1511G>T (p.Ser504Ile) c.2162G>T (p.Ser721Ile) c.989G>T (p.Ser330Ile) | COSMIC |
11 | g.68158115C= | CA1980500568 | KMT5B | c.2018G= (p.Ser673=) n.2583G= c.*1855G= (n.*1855G=) c.*1898G= (n.*1898G=) c.1715G= (p.Ser572=) c.*1439G= (n.*1439G=) c.2231G= (p.Ser744=) c.1511G= (p.Ser504=) c.2162G= (p.Ser721=) c.989G= (p.Ser330=) | |
11 | g.68158115C>G | CA381588431 | KMT5B | c.2018G>C (p.Ser673Thr) n.2583G>C c.*1855G>C (n.*1855G>C) c.*1898G>C (n.*1898G>C) c.1715G>C (p.Ser572Thr) c.*1439G>C (n.*1439G>C) c.2231G>C (p.Ser744Thr) c.1511G>C (p.Ser504Thr) c.2162G>C (p.Ser721Thr) c.989G>C (p.Ser330Thr) | |
11 | g.68158115C>T | CA6148035 | KMT5B | c.2018G>A (p.Ser673Asn) n.2583G>A c.*1855G>A (n.*1855G>A) c.*1898G>A (n.*1898G>A) c.1715G>A (p.Ser572Asn) c.*1439G>A (n.*1439G>A) c.2231G>A (p.Ser744Asn) c.1511G>A (p.Ser504Asn) c.2162G>A (p.Ser721Asn) c.989G>A (p.Ser330Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68158116T>A | CA381588436 | KMT5B | c.2017A>T (p.Ser673Cys) n.2582A>T c.*1854A>T (n.*1854A>T) c.*1897A>T (n.*1897A>T) c.1714A>T (p.Ser572Cys) c.*1438A>T (n.*1438A>T) c.2230A>T (p.Ser744Cys) c.1510A>T (p.Ser504Cys) c.2161A>T (p.Ser721Cys) c.988A>T (p.Ser330Cys) | |
11 | g.68158116T>C | CA381588434 | KMT5B | c.2017A>G (p.Ser673Gly) n.2582A>G c.*1854A>G (n.*1854A>G) c.*1897A>G (n.*1897A>G) c.1714A>G (p.Ser572Gly) c.*1438A>G (n.*1438A>G) c.2230A>G (p.Ser744Gly) c.1510A>G (p.Ser504Gly) c.2161A>G (p.Ser721Gly) c.988A>G (p.Ser330Gly) | |
11 | g.68158116T>G | CA381588433 | KMT5B | c.2017A>C (p.Ser673Arg) n.2582A>C c.*1854A>C (n.*1854A>C) c.*1897A>C (n.*1897A>C) c.1714A>C (p.Ser572Arg) c.*1438A>C (n.*1438A>C) c.2230A>C (p.Ser744Arg) c.1510A>C (p.Ser504Arg) c.2161A>C (p.Ser721Arg) c.988A>C (p.Ser330Arg) | |
11 | g.68158117T>A | CA475514951 | KMT5B | c.2016A>T (p.Ile672=) n.2581A>T c.*1853A>T (n.*1853A>T) c.*1896A>T (n.*1896A>T) c.1713A>T (p.Ile571=) c.*1437A>T (n.*1437A>T) c.2229A>T (p.Ile743=) c.1509A>T (p.Ile503=) c.2160A>T (p.Ile720=) c.987A>T (p.Ile329=) | |
11 | g.68158117T>C | CA381588438 | KMT5B | c.2016A>G (p.Ile672Met) n.2581A>G c.*1853A>G (n.*1853A>G) c.*1896A>G (n.*1896A>G) c.1713A>G (p.Ile571Met) c.*1437A>G (n.*1437A>G) c.2229A>G (p.Ile743Met) c.1509A>G (p.Ile503Met) c.2160A>G (p.Ile720Met) c.987A>G (p.Ile329Met) | |
11 | g.68158117T>G | CA475514950 | KMT5B | c.2016A>C (p.Ile672=) n.2581A>C c.*1853A>C (n.*1853A>C) c.*1896A>C (n.*1896A>C) c.1713A>C (p.Ile571=) c.*1437A>C (n.*1437A>C) c.2229A>C (p.Ile743=) c.1509A>C (p.Ile503=) c.2160A>C (p.Ile720=) c.987A>C (p.Ile329=) | |
11 | g.68158118A= | CA1980500571 | KMT5B | c.2015T= (p.Ile672=) n.2580T= c.*1852T= (n.*1852T=) c.*1895T= (n.*1895T=) c.1712T= (p.Ile571=) c.*1436T= (n.*1436T=) c.2228T= (p.Ile743=) c.1508T= (p.Ile503=) c.2159T= (p.Ile720=) c.986T= (p.Ile329=) | |
11 | g.68158118A>C | CA381588440 | KMT5B | c.2015T>G (p.Ile672Arg) n.2580T>G c.*1852T>G (n.*1852T>G) c.*1895T>G (n.*1895T>G) c.1712T>G (p.Ile571Arg) c.*1436T>G (n.*1436T>G) c.2228T>G (p.Ile743Arg) c.1508T>G (p.Ile503Arg) c.2159T>G (p.Ile720Arg) c.986T>G (p.Ile329Arg) | |
11 | g.68158118A>G | CA381588443 | KMT5B | c.2015T>C (p.Ile672Thr) n.2580T>C c.*1852T>C (n.*1852T>C) c.*1895T>C (n.*1895T>C) c.1712T>C (p.Ile571Thr) c.*1436T>C (n.*1436T>C) c.2228T>C (p.Ile743Thr) c.1508T>C (p.Ile503Thr) c.2159T>C (p.Ile720Thr) c.986T>C (p.Ile329Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.68158118A>T | CA381588445 | KMT5B | c.2015T>A (p.Ile672Lys) n.2580T>A c.*1852T>A (n.*1852T>A) c.*1895T>A (n.*1895T>A) c.1712T>A (p.Ile571Lys) c.*1436T>A (n.*1436T>A) c.2228T>A (p.Ile743Lys) c.1508T>A (p.Ile503Lys) c.2159T>A (p.Ile720Lys) c.986T>A (p.Ile329Lys) | |
11 | g.68158119T>A | CA381588447 | KMT5B | c.2014A>T (p.Ile672Leu) n.2579A>T c.*1851A>T (n.*1851A>T) c.*1894A>T (n.*1894A>T) c.1711A>T (p.Ile571Leu) c.*1435A>T (n.*1435A>T) c.2227A>T (p.Ile743Leu) c.1507A>T (p.Ile503Leu) c.2158A>T (p.Ile720Leu) c.985A>T (p.Ile329Leu) | |
11 | g.68158119T>C | CA6148036 | KMT5B | c.2014A>G (p.Ile672Val) n.2579A>G c.*1851A>G (n.*1851A>G) c.*1894A>G (n.*1894A>G) c.1711A>G (p.Ile571Val) c.*1435A>G (n.*1435A>G) c.2227A>G (p.Ile743Val) c.1507A>G (p.Ile503Val) c.2158A>G (p.Ile720Val) c.985A>G (p.Ile329Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68158119T>G | CA381588449 | KMT5B | c.2014A>C (p.Ile672Leu) n.2579A>C c.*1851A>C (n.*1851A>C) c.*1894A>C (n.*1894A>C) c.1711A>C (p.Ile571Leu) c.*1435A>C (n.*1435A>C) c.2227A>C (p.Ile743Leu) c.1507A>C (p.Ile503Leu) c.2158A>C (p.Ile720Leu) c.985A>C (p.Ile329Leu) | |
11 | g.68158119T= | CA1980500572 | KMT5B | c.2014A= (p.Ile672=) n.2579A= c.*1851A= (n.*1851A=) c.*1894A= (n.*1894A=) c.1711A= (p.Ile571=) c.*1435A= (n.*1435A=) c.2227A= (p.Ile743=) c.1507A= (p.Ile503=) c.2158A= (p.Ile720=) c.985A= (p.Ile329=) | |
11 | g.68158120T>A | CA381588450 | KMT5B | c.2013A>T (p.Lys671Asn) n.2578A>T c.*1850A>T (n.*1850A>T) c.*1893A>T (n.*1893A>T) c.1710A>T (p.Lys570Asn) c.*1434A>T (n.*1434A>T) c.2226A>T (p.Lys742Asn) c.1506A>T (p.Lys502Asn) c.2157A>T (p.Lys719Asn) c.984A>T (p.Lys328Asn) | |
11 | g.68158120T>C | CA475514952 | KMT5B | c.2013A>G (p.Lys671=) n.2578A>G c.*1850A>G (n.*1850A>G) c.*1893A>G (n.*1893A>G) c.1710A>G (p.Lys570=) c.*1434A>G (n.*1434A>G) c.2226A>G (p.Lys742=) c.1506A>G (p.Lys502=) c.2157A>G (p.Lys719=) c.984A>G (p.Lys328=) | |
11 | g.68158120T>G | CA381588451 | KMT5B | c.2013A>C (p.Lys671Asn) n.2578A>C c.*1850A>C (n.*1850A>C) c.*1893A>C (n.*1893A>C) c.1710A>C (p.Lys570Asn) c.*1434A>C (n.*1434A>C) c.2226A>C (p.Lys742Asn) c.1506A>C (p.Lys502Asn) c.2157A>C (p.Lys719Asn) c.984A>C (p.Lys328Asn) | |
11 | g.68158121T>A | CA381588454 | KMT5B | c.2012A>T (p.Lys671Ile) n.2577A>T c.*1849A>T (n.*1849A>T) c.*1892A>T (n.*1892A>T) c.1709A>T (p.Lys570Ile) c.*1433A>T (n.*1433A>T) c.2225A>T (p.Lys742Ile) c.1505A>T (p.Lys502Ile) c.2156A>T (p.Lys719Ile) c.983A>T (p.Lys328Ile) | |
11 | g.68158121T>C | CA381588455 | KMT5B | c.2012A>G (p.Lys671Arg) n.2577A>G c.*1849A>G (n.*1849A>G) c.*1892A>G (n.*1892A>G) c.1709A>G (p.Lys570Arg) c.*1433A>G (n.*1433A>G) c.2225A>G (p.Lys742Arg) c.1505A>G (p.Lys502Arg) c.2156A>G (p.Lys719Arg) c.983A>G (p.Lys328Arg) | |
11 | g.68158121T>G | CA381588457 | KMT5B | c.2012A>C (p.Lys671Thr) n.2577A>C c.*1849A>C (n.*1849A>C) c.*1892A>C (n.*1892A>C) c.1709A>C (p.Lys570Thr) c.*1433A>C (n.*1433A>C) c.2225A>C (p.Lys742Thr) c.1505A>C (p.Lys502Thr) c.2156A>C (p.Lys719Thr) c.983A>C (p.Lys328Thr) | |
11 | g.68158122T>A | CA381588463 | KMT5B | c.2011A>T (p.Lys671Ter) n.2576A>T c.*1848A>T (n.*1848A>T) c.*1891A>T (n.*1891A>T) c.1708A>T (p.Lys570Ter) c.*1432A>T (n.*1432A>T) c.2224A>T (p.Lys742Ter) c.1504A>T (p.Lys502Ter) c.2155A>T (p.Lys719Ter) c.982A>T (p.Lys328Ter) | |
11 | g.68158122T>C | CA381588459 | KMT5B | c.2011A>G (p.Lys671Glu) n.2576A>G c.*1848A>G (n.*1848A>G) c.*1891A>G (n.*1891A>G) c.1708A>G (p.Lys570Glu) c.*1432A>G (n.*1432A>G) c.2224A>G (p.Lys742Glu) c.1504A>G (p.Lys502Glu) c.2155A>G (p.Lys719Glu) c.982A>G (p.Lys328Glu) | |
11 | g.68158122T>G | CA381588461 | KMT5B | c.2011A>C (p.Lys671Gln) n.2576A>C c.*1848A>C (n.*1848A>C) c.*1891A>C (n.*1891A>C) c.1708A>C (p.Lys570Gln) c.*1432A>C (n.*1432A>C) c.2224A>C (p.Lys742Gln) c.1504A>C (p.Lys502Gln) c.2155A>C (p.Lys719Gln) c.982A>C (p.Lys328Gln) | |
11 | g.68158123G>A | CA475514954 | KMT5B | c.2010C>T (p.Ser670=) n.2575C>T c.*1847C>T (n.*1847C>T) c.*1890C>T (n.*1890C>T) c.1707C>T (p.Ser569=) c.*1431C>T (n.*1431C>T) c.2223C>T (p.Ser741=) c.1503C>T (p.Ser501=) c.2154C>T (p.Ser718=) c.981C>T (p.Ser327=) | |
11 | g.68158123G>C | CA475514956 | KMT5B | c.2010C>G (p.Ser670=) n.2575C>G c.*1847C>G (n.*1847C>G) c.*1890C>G (n.*1890C>G) c.1707C>G (p.Ser569=) c.*1431C>G (n.*1431C>G) c.2223C>G (p.Ser741=) c.1503C>G (p.Ser501=) c.2154C>G (p.Ser718=) c.981C>G (p.Ser327=) | |
11 | g.68158123G>T | CA475514955 | KMT5B | c.2010C>A (p.Ser670=) n.2575C>A c.*1847C>A (n.*1847C>A) c.*1890C>A (n.*1890C>A) c.1707C>A (p.Ser569=) c.*1431C>A (n.*1431C>A) c.2223C>A (p.Ser741=) c.1503C>A (p.Ser501=) c.2154C>A (p.Ser718=) c.981C>A (p.Ser327=) | |
11 | g.68158124G>A | CA381588465 | KMT5B | c.2009C>T (p.Ser670Phe) n.2574C>T c.*1846C>T (n.*1846C>T) c.*1889C>T (n.*1889C>T) c.1706C>T (p.Ser569Phe) c.*1430C>T (n.*1430C>T) c.2222C>T (p.Ser741Phe) c.1502C>T (p.Ser501Phe) c.2153C>T (p.Ser718Phe) c.980C>T (p.Ser327Phe) | COSMIC COSMIC |
11 | g.68158124G>C | CA381588467 | KMT5B | c.2009C>G (p.Ser670Cys) n.2574C>G c.*1846C>G (n.*1846C>G) c.*1889C>G (n.*1889C>G) c.1706C>G (p.Ser569Cys) c.*1430C>G (n.*1430C>G) c.2222C>G (p.Ser741Cys) c.1502C>G (p.Ser501Cys) c.2153C>G (p.Ser718Cys) c.980C>G (p.Ser327Cys) | |
11 | g.68158124G>T | CA381588469 | KMT5B | c.2009C>A (p.Ser670Tyr) n.2574C>A c.*1846C>A (n.*1846C>A) c.*1889C>A (n.*1889C>A) c.1706C>A (p.Ser569Tyr) c.*1430C>A (n.*1430C>A) c.2222C>A (p.Ser741Tyr) c.1502C>A (p.Ser501Tyr) c.2153C>A (p.Ser718Tyr) c.980C>A (p.Ser327Tyr) | |
11 | g.68158125A>C | CA381588471 | KMT5B | c.2008T>G (p.Ser670Ala) n.2573T>G c.*1845T>G (n.*1845T>G) c.*1888T>G (n.*1888T>G) c.1705T>G (p.Ser569Ala) c.*1429T>G (n.*1429T>G) c.2221T>G (p.Ser741Ala) c.1501T>G (p.Ser501Ala) c.2152T>G (p.Ser718Ala) c.979T>G (p.Ser327Ala) | |
11 | g.68158125A>G | CA381588473 | KMT5B | c.2008T>C (p.Ser670Pro) n.2573T>C c.*1845T>C (n.*1845T>C) c.*1888T>C (n.*1888T>C) c.1705T>C (p.Ser569Pro) c.*1429T>C (n.*1429T>C) c.2221T>C (p.Ser741Pro) c.1501T>C (p.Ser501Pro) c.2152T>C (p.Ser718Pro) c.979T>C (p.Ser327Pro) | |
11 | g.68158125A>T | CA381588475 | KMT5B | c.2008T>A (p.Ser670Thr) n.2573T>A c.*1845T>A (n.*1845T>A) c.*1888T>A (n.*1888T>A) c.1705T>A (p.Ser569Thr) c.*1429T>A (n.*1429T>A) c.2221T>A (p.Ser741Thr) c.1501T>A (p.Ser501Thr) c.2152T>A (p.Ser718Thr) c.979T>A (p.Ser327Thr) | |
11 | g.68158126A>C | CA475514960 | KMT5B | c.2007T>G (p.Ser669=) n.2572T>G c.*1844T>G (n.*1844T>G) c.*1887T>G (n.*1887T>G) c.1704T>G (p.Ser568=) c.*1428T>G (n.*1428T>G) c.2220T>G (p.Ser740=) c.1500T>G (p.Ser500=) c.2151T>G (p.Ser717=) c.978T>G (p.Ser326=) | |
11 | g.68158126A>G | CA475514961 | KMT5B | c.2007T>C (p.Ser669=) n.2572T>C c.*1844T>C (n.*1844T>C) c.*1887T>C (n.*1887T>C) c.1704T>C (p.Ser568=) c.*1428T>C (n.*1428T>C) c.2220T>C (p.Ser740=) c.1500T>C (p.Ser500=) c.2151T>C (p.Ser717=) c.978T>C (p.Ser326=) | gnomAD v4 |
11 | g.68158126A>T | CA475514962 | KMT5B | c.2007T>A (p.Ser669=) n.2572T>A c.*1844T>A (n.*1844T>A) c.*1887T>A (n.*1887T>A) c.1704T>A (p.Ser568=) c.*1428T>A (n.*1428T>A) c.2220T>A (p.Ser740=) c.1500T>A (p.Ser500=) c.2151T>A (p.Ser717=) c.978T>A (p.Ser326=) | |
11 | g.68158127del | CA2523483936 | KMT5B | c.2006del (p.Ser669PhefsTer4) n.2571del c.*1843del (n.*1843del) c.*1886del (n.*1886del) c.1703del (p.Ser568PhefsTer4) c.*1427del (n.*1427del) c.2219del (p.Ser740PhefsTer4) c.1499del (p.Ser500PhefsTer4) c.2150del (p.Ser717PhefsTer4) c.977del (p.Ser326PhefsTer4) | |
11 | g.68158127G>A | CA381588477 | KMT5B | c.2006C>T (p.Ser669Phe) n.2571C>T c.*1843C>T (n.*1843C>T) c.*1886C>T (n.*1886C>T) c.1703C>T (p.Ser568Phe) c.*1427C>T (n.*1427C>T) c.2219C>T (p.Ser740Phe) c.1499C>T (p.Ser500Phe) c.2150C>T (p.Ser717Phe) c.977C>T (p.Ser326Phe) | |
11 | g.68158127G>C | CA381588479 | KMT5B | c.2006C>G (p.Ser669Cys) n.2571C>G c.*1843C>G (n.*1843C>G) c.*1886C>G (n.*1886C>G) c.1703C>G (p.Ser568Cys) c.*1427C>G (n.*1427C>G) c.2219C>G (p.Ser740Cys) c.1499C>G (p.Ser500Cys) c.2150C>G (p.Ser717Cys) c.977C>G (p.Ser326Cys) | |
11 | g.68158127G>T | CA381588481 | KMT5B | c.2006C>A (p.Ser669Tyr) n.2571C>A c.*1843C>A (n.*1843C>A) c.*1886C>A (n.*1886C>A) c.1703C>A (p.Ser568Tyr) c.*1427C>A (n.*1427C>A) c.2219C>A (p.Ser740Tyr) c.1499C>A (p.Ser500Tyr) c.2150C>A (p.Ser717Tyr) c.977C>A (p.Ser326Tyr) | |
11 | g.68158128A= | CA1980500576 | KMT5B | c.2005T= (p.Ser669=) n.2570T= c.*1842T= (n.*1842T=) c.*1885T= (n.*1885T=) c.1702T= (p.Ser568=) c.*1426T= (n.*1426T=) c.2218T= (p.Ser740=) c.1498T= (p.Ser500=) c.2149T= (p.Ser717=) c.976T= (p.Ser326=) | |
11 | g.68158128A>C | CA6148037 | KMT5B | c.2005T>G (p.Ser669Ala) n.2570T>G c.*1842T>G (n.*1842T>G) c.*1885T>G (n.*1885T>G) c.1702T>G (p.Ser568Ala) c.*1426T>G (n.*1426T>G) c.2218T>G (p.Ser740Ala) c.1498T>G (p.Ser500Ala) c.2149T>G (p.Ser717Ala) c.976T>G (p.Ser326Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68158128A>G | CA381588482 | KMT5B | c.2005T>C (p.Ser669Pro) n.2570T>C c.*1842T>C (n.*1842T>C) c.*1885T>C (n.*1885T>C) c.1702T>C (p.Ser568Pro) c.*1426T>C (n.*1426T>C) c.2218T>C (p.Ser740Pro) c.1498T>C (p.Ser500Pro) c.2149T>C (p.Ser717Pro) c.976T>C (p.Ser326Pro) | ClinVar gnomAD v4 |
11 | g.68158128A>T | CA381588484 | KMT5B | c.2005T>A (p.Ser669Thr) n.2570T>A c.*1842T>A (n.*1842T>A) c.*1885T>A (n.*1885T>A) c.1702T>A (p.Ser568Thr) c.*1426T>A (n.*1426T>A) c.2218T>A (p.Ser740Thr) c.1498T>A (p.Ser500Thr) c.2149T>A (p.Ser717Thr) c.976T>A (p.Ser326Thr) | |
11 | g.68158129G>A | CA475514963 | KMT5B | c.2004C>T (p.Asn668=) n.2569C>T c.*1841C>T (n.*1841C>T) c.*1884C>T (n.*1884C>T) c.1701C>T (p.Asn567=) c.*1425C>T (n.*1425C>T) c.2217C>T (p.Asn739=) c.1497C>T (p.Asn499=) c.2148C>T (p.Asn716=) c.975C>T (p.Asn325=) | |
11 | g.68158129G>C | CA381588488 | KMT5B | c.2004C>G (p.Asn668Lys) n.2569C>G c.*1841C>G (n.*1841C>G) c.*1884C>G (n.*1884C>G) c.1701C>G (p.Asn567Lys) c.*1425C>G (n.*1425C>G) c.2217C>G (p.Asn739Lys) c.1497C>G (p.Asn499Lys) c.2148C>G (p.Asn716Lys) c.975C>G (p.Asn325Lys) | gnomAD v4 |
11 | g.68158129G>T | CA381588487 | KMT5B | c.2004C>A (p.Asn668Lys) n.2569C>A c.*1841C>A (n.*1841C>A) c.*1884C>A (n.*1884C>A) c.1701C>A (p.Asn567Lys) c.*1425C>A (n.*1425C>A) c.2217C>A (p.Asn739Lys) c.1497C>A (p.Asn499Lys) c.2148C>A (p.Asn716Lys) c.975C>A (p.Asn325Lys) | |
11 | g.68158130T>A | CA381588491 | KMT5B | c.2003A>T (p.Asn668Ile) n.2568A>T c.*1840A>T (n.*1840A>T) c.*1883A>T (n.*1883A>T) c.1700A>T (p.Asn567Ile) c.*1424A>T (n.*1424A>T) c.2216A>T (p.Asn739Ile) c.1496A>T (p.Asn499Ile) c.2147A>T (p.Asn716Ile) c.974A>T (p.Asn325Ile) | COSMIC COSMIC |
11 | g.68158130T>C | CA6148038 | KMT5B | c.2003A>G (p.Asn668Ser) n.2568A>G c.*1840A>G (n.*1840A>G) c.*1883A>G (n.*1883A>G) c.1700A>G (p.Asn567Ser) c.*1424A>G (n.*1424A>G) c.2216A>G (p.Asn739Ser) c.1496A>G (p.Asn499Ser) c.2147A>G (p.Asn716Ser) c.974A>G (p.Asn325Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68158130T>G | CA381588493 | KMT5B | c.2003A>C (p.Asn668Thr) n.2568A>C c.*1840A>C (n.*1840A>C) c.*1883A>C (n.*1883A>C) c.1700A>C (p.Asn567Thr) c.*1424A>C (n.*1424A>C) c.2216A>C (p.Asn739Thr) c.1496A>C (p.Asn499Thr) c.2147A>C (p.Asn716Thr) c.974A>C (p.Asn325Thr) | |
11 | g.68158130T= | CA1980500578 | KMT5B | c.2003A= (p.Asn668=) n.2568A= c.*1840A= (n.*1840A=) c.*1883A= (n.*1883A=) c.1700A= (p.Asn567=) c.*1424A= (n.*1424A=) c.2216A= (p.Asn739=) c.1496A= (p.Asn499=) c.2147A= (p.Asn716=) c.974A= (p.Asn325=) | |
11 | g.68158131T>A | CA381588496 | KMT5B | c.2002A>T (p.Asn668Tyr) n.2567A>T c.*1839A>T (n.*1839A>T) c.*1882A>T (n.*1882A>T) c.1699A>T (p.Asn567Tyr) c.*1423A>T (n.*1423A>T) c.2215A>T (p.Asn739Tyr) c.1495A>T (p.Asn499Tyr) c.2146A>T (p.Asn716Tyr) c.973A>T (p.Asn325Tyr) | |
11 | g.68158131T>C | CA381588498 | KMT5B | c.2002A>G (p.Asn668Asp) n.2567A>G c.*1839A>G (n.*1839A>G) c.*1882A>G (n.*1882A>G) c.1699A>G (p.Asn567Asp) c.*1423A>G (n.*1423A>G) c.2215A>G (p.Asn739Asp) c.1495A>G (p.Asn499Asp) c.2146A>G (p.Asn716Asp) c.973A>G (p.Asn325Asp) | |
11 | g.68158131T>G | CA381588500 | KMT5B | c.2002A>C (p.Asn668His) n.2567A>C c.*1839A>C (n.*1839A>C) c.*1882A>C (n.*1882A>C) c.1699A>C (p.Asn567His) c.*1423A>C (n.*1423A>C) c.2215A>C (p.Asn739His) c.1495A>C (p.Asn499His) c.2146A>C (p.Asn716His) c.973A>C (p.Asn325His) | |
11 | g.68158132C>A | CA6148039 | KMT5B | c.2001G>T (p.Met667Ile) n.2566G>T c.*1838G>T (n.*1838G>T) c.*1881G>T (n.*1881G>T) c.1698G>T (p.Met566Ile) c.*1422G>T (n.*1422G>T) c.2214G>T (p.Met738Ile) c.1494G>T (p.Met498Ile) c.2145G>T (p.Met715Ile) c.972G>T (p.Met324Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68158132C= | CA1980500583 | KMT5B | c.2001G= (p.Met667=) n.2566G= c.*1838G= (n.*1838G=) c.*1881G= (n.*1881G=) c.1698G= (p.Met566=) c.*1422G= (n.*1422G=) c.2214G= (p.Met738=) c.1494G= (p.Met498=) c.2145G= (p.Met715=) c.972G= (p.Met324=) | |
11 | g.68158132C>G | CA381588502 | KMT5B | c.2001G>C (p.Met667Ile) n.2566G>C c.*1838G>C (n.*1838G>C) c.*1881G>C (n.*1881G>C) c.1698G>C (p.Met566Ile) c.*1422G>C (n.*1422G>C) c.2214G>C (p.Met738Ile) c.1494G>C (p.Met498Ile) c.2145G>C (p.Met715Ile) c.972G>C (p.Met324Ile) | |
11 | g.68158132C>T | CA381588504 | KMT5B | c.2001G>A (p.Met667Ile) n.2566G>A c.*1838G>A (n.*1838G>A) c.*1881G>A (n.*1881G>A) c.1698G>A (p.Met566Ile) c.*1422G>A (n.*1422G>A) c.2214G>A (p.Met738Ile) c.1494G>A (p.Met498Ile) c.2145G>A (p.Met715Ile) c.972G>A (p.Met324Ile) | |
11 | g.68158133A>C | CA381588506 | KMT5B | c.2000T>G (p.Met667Arg) n.2565T>G c.*1837T>G (n.*1837T>G) c.*1880T>G (n.*1880T>G) c.1697T>G (p.Met566Arg) c.*1421T>G (n.*1421T>G) c.2213T>G (p.Met738Arg) c.1493T>G (p.Met498Arg) c.2144T>G (p.Met715Arg) c.971T>G (p.Met324Arg) | gnomAD v4 |
11 | g.68158133A>G | CA381588508 | KMT5B | c.2000T>C (p.Met667Thr) n.2565T>C c.*1837T>C (n.*1837T>C) c.*1880T>C (n.*1880T>C) c.1697T>C (p.Met566Thr) c.*1421T>C (n.*1421T>C) c.2213T>C (p.Met738Thr) c.1493T>C (p.Met498Thr) c.2144T>C (p.Met715Thr) c.971T>C (p.Met324Thr) | |
11 | g.68158133A>T | CA381588510 | KMT5B | c.2000T>A (p.Met667Lys) n.2565T>A c.*1837T>A (n.*1837T>A) c.*1880T>A (n.*1880T>A) c.1697T>A (p.Met566Lys) c.*1421T>A (n.*1421T>A) c.2213T>A (p.Met738Lys) c.1493T>A (p.Met498Lys) c.2144T>A (p.Met715Lys) c.971T>A (p.Met324Lys) | |
11 | g.68158134T>A | CA381588513 | KMT5B | c.1999A>T (p.Met667Leu) n.2564A>T c.*1836A>T (n.*1836A>T) c.*1879A>T (n.*1879A>T) c.1696A>T (p.Met566Leu) c.*1420A>T (n.*1420A>T) c.2212A>T (p.Met738Leu) c.1492A>T (p.Met498Leu) c.2143A>T (p.Met715Leu) c.970A>T (p.Met324Leu) | |
11 | g.68158134T>C | CA381588515 | KMT5B | c.1999A>G (p.Met667Val) n.2564A>G c.*1836A>G (n.*1836A>G) c.*1879A>G (n.*1879A>G) c.1696A>G (p.Met566Val) c.*1420A>G (n.*1420A>G) c.2212A>G (p.Met738Val) c.1492A>G (p.Met498Val) c.2143A>G (p.Met715Val) c.970A>G (p.Met324Val) | dbSNP gnomAD v4 |
11 | g.68158134T>G | CA381588516 | KMT5B | c.1999A>C (p.Met667Leu) n.2564A>C c.*1836A>C (n.*1836A>C) c.*1879A>C (n.*1879A>C) c.1696A>C (p.Met566Leu) c.*1420A>C (n.*1420A>C) c.2212A>C (p.Met738Leu) c.1492A>C (p.Met498Leu) c.2143A>C (p.Met715Leu) c.970A>C (p.Met324Leu) | |
11 | g.68158134T= | CA1980500590 | KMT5B | c.1999A= (p.Met667=) n.2564A= c.*1836A= (n.*1836A=) c.*1879A= (n.*1879A=) c.1696A= (p.Met566=) c.*1420A= (n.*1420A=) c.2212A= (p.Met738=) c.1492A= (p.Met498=) c.2143A= (p.Met715=) c.970A= (p.Met324=) | |
11 | g.68158135T>A | CA475514969 | KMT5B | c.1998A>T (p.Gly666=) n.2563A>T c.*1835A>T (n.*1835A>T) c.*1878A>T (n.*1878A>T) c.1695A>T (p.Gly565=) c.*1419A>T (n.*1419A>T) c.2211A>T (p.Gly737=) c.1491A>T (p.Gly497=) c.2142A>T (p.Gly714=) c.969A>T (p.Gly323=) | |
11 | g.68158135T>C | CA475514970 | KMT5B | c.1998A>G (p.Gly666=) n.2563A>G c.*1835A>G (n.*1835A>G) c.*1878A>G (n.*1878A>G) c.1695A>G (p.Gly565=) c.*1419A>G (n.*1419A>G) c.2211A>G (p.Gly737=) c.1491A>G (p.Gly497=) c.2142A>G (p.Gly714=) c.969A>G (p.Gly323=) | |
11 | g.68158135T>G | CA475514971 | KMT5B | c.1998A>C (p.Gly666=) n.2563A>C c.*1835A>C (n.*1835A>C) c.*1878A>C (n.*1878A>C) c.1695A>C (p.Gly565=) c.*1419A>C (n.*1419A>C) c.2211A>C (p.Gly737=) c.1491A>C (p.Gly497=) c.2142A>C (p.Gly714=) c.969A>C (p.Gly323=) | |
11 | g.68158136C>A | CA381588523 | KMT5B | c.1997G>T (p.Gly666Val) n.2562G>T c.*1834G>T (n.*1834G>T) c.*1877G>T (n.*1877G>T) c.1694G>T (p.Gly565Val) c.*1418G>T (n.*1418G>T) c.2210G>T (p.Gly737Val) c.1490G>T (p.Gly497Val) c.2141G>T (p.Gly714Val) c.968G>T (p.Gly323Val) | |
11 | g.68158136C>G | CA381588519 | KMT5B | c.1997G>C (p.Gly666Ala) n.2562G>C c.*1834G>C (n.*1834G>C) c.*1877G>C (n.*1877G>C) c.1694G>C (p.Gly565Ala) c.*1418G>C (n.*1418G>C) c.2210G>C (p.Gly737Ala) c.1490G>C (p.Gly497Ala) c.2141G>C (p.Gly714Ala) c.968G>C (p.Gly323Ala) | |
11 | g.68158136C>T | CA381588521 | KMT5B | c.1997G>A (p.Gly666Glu) n.2562G>A c.*1834G>A (n.*1834G>A) c.*1877G>A (n.*1877G>A) c.1694G>A (p.Gly565Glu) c.*1418G>A (n.*1418G>A) c.2210G>A (p.Gly737Glu) c.1490G>A (p.Gly497Glu) c.2141G>A (p.Gly714Glu) c.968G>A (p.Gly323Glu) | |
11 | g.68158137C>A | CA381588525 | KMT5B | c.1996G>T (p.Gly666Ter) n.2561G>T c.*1833G>T (n.*1833G>T) c.*1876G>T (n.*1876G>T) c.1693G>T (p.Gly565Ter) c.*1417G>T (n.*1417G>T) c.2209G>T (p.Gly737Ter) c.1489G>T (p.Gly497Ter) c.2140G>T (p.Gly714Ter) c.967G>T (p.Gly323Ter) | |
11 | g.68158137C>G | CA381588527 | KMT5B | c.1996G>C (p.Gly666Arg) n.2561G>C c.*1833G>C (n.*1833G>C) c.*1876G>C (n.*1876G>C) c.1693G>C (p.Gly565Arg) c.*1417G>C (n.*1417G>C) c.2209G>C (p.Gly737Arg) c.1489G>C (p.Gly497Arg) c.2140G>C (p.Gly714Arg) c.967G>C (p.Gly323Arg) | |
11 | g.68158137C>T | CA381588529 | KMT5B | c.1996G>A (p.Gly666Arg) n.2561G>A c.*1833G>A (n.*1833G>A) c.*1876G>A (n.*1876G>A) c.1693G>A (p.Gly565Arg) c.*1417G>A (n.*1417G>A) c.2209G>A (p.Gly737Arg) c.1489G>A (p.Gly497Arg) c.2140G>A (p.Gly714Arg) c.967G>A (p.Gly323Arg) | COSMIC COSMIC |