Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.68158195T>A | CA381589511 | KMT5B | c.1938A>T (p.Lys646Asn) n.2503A>T c.*1775A>T (n.*1775A>T) c.*1818A>T (n.*1818A>T) c.1635A>T (p.Lys545Asn) c.*1359A>T (n.*1359A>T) c.2151A>T (p.Lys717Asn) c.1431A>T (p.Lys477Asn) c.2082A>T (p.Lys694Asn) c.909A>T (p.Lys303Asn) | |
11 | g.68158195T>C | CA475514812 | KMT5B | c.1938A>G (p.Lys646=) n.2503A>G c.*1775A>G (n.*1775A>G) c.*1818A>G (n.*1818A>G) c.1635A>G (p.Lys545=) c.*1359A>G (n.*1359A>G) c.2151A>G (p.Lys717=) c.1431A>G (p.Lys477=) c.2082A>G (p.Lys694=) c.909A>G (p.Lys303=) | gnomAD v4 COSMIC COSMIC |
11 | g.68158195T>G | CA381589514 | KMT5B | c.1938A>C (p.Lys646Asn) n.2503A>C c.*1775A>C (n.*1775A>C) c.*1818A>C (n.*1818A>C) c.1635A>C (p.Lys545Asn) c.*1359A>C (n.*1359A>C) c.2151A>C (p.Lys717Asn) c.1431A>C (p.Lys477Asn) c.2082A>C (p.Lys694Asn) c.909A>C (p.Lys303Asn) | |
11 | g.68158196T>A | CA381589520 | KMT5B | c.1937A>T (p.Lys646Ile) n.2502A>T c.*1774A>T (n.*1774A>T) c.*1817A>T (n.*1817A>T) c.1634A>T (p.Lys545Ile) c.*1358A>T (n.*1358A>T) c.2150A>T (p.Lys717Ile) c.1430A>T (p.Lys477Ile) c.2081A>T (p.Lys694Ile) c.908A>T (p.Lys303Ile) | |
11 | g.68158196T>C | CA381589522 | KMT5B | c.1937A>G (p.Lys646Arg) n.2502A>G c.*1774A>G (n.*1774A>G) c.*1817A>G (n.*1817A>G) c.1634A>G (p.Lys545Arg) c.*1358A>G (n.*1358A>G) c.2150A>G (p.Lys717Arg) c.1430A>G (p.Lys477Arg) c.2081A>G (p.Lys694Arg) c.908A>G (p.Lys303Arg) | ClinVar gnomAD v4 |
11 | g.68158196T>G | CA381589517 | KMT5B | c.1937A>C (p.Lys646Thr) n.2502A>C c.*1774A>C (n.*1774A>C) c.*1817A>C (n.*1817A>C) c.1634A>C (p.Lys545Thr) c.*1358A>C (n.*1358A>C) c.2150A>C (p.Lys717Thr) c.1430A>C (p.Lys477Thr) c.2081A>C (p.Lys694Thr) c.908A>C (p.Lys303Thr) | |
11 | g.68158197T>A | CA381589525 | KMT5B | c.1936A>T (p.Lys646Ter) n.2501A>T c.*1773A>T (n.*1773A>T) c.*1816A>T (n.*1816A>T) c.1633A>T (p.Lys545Ter) c.*1357A>T (n.*1357A>T) c.2149A>T (p.Lys717Ter) c.1429A>T (p.Lys477Ter) c.2080A>T (p.Lys694Ter) c.907A>T (p.Lys303Ter) | |
11 | g.68158197T>C | CA381589529 | KMT5B | c.1936A>G (p.Lys646Glu) n.2501A>G c.*1773A>G (n.*1773A>G) c.*1816A>G (n.*1816A>G) c.1633A>G (p.Lys545Glu) c.*1357A>G (n.*1357A>G) c.2149A>G (p.Lys717Glu) c.1429A>G (p.Lys477Glu) c.2080A>G (p.Lys694Glu) c.907A>G (p.Lys303Glu) | |
11 | g.68158197T>G | CA381589533 | KMT5B | c.1936A>C (p.Lys646Gln) n.2501A>C c.*1773A>C (n.*1773A>C) c.*1816A>C (n.*1816A>C) c.1633A>C (p.Lys545Gln) c.*1357A>C (n.*1357A>C) c.2149A>C (p.Lys717Gln) c.1429A>C (p.Lys477Gln) c.2080A>C (p.Lys694Gln) c.907A>C (p.Lys303Gln) | |
11 | g.68158198G>A | CA475514816 | KMT5B | c.1935C>T (p.Pro645=) n.2500C>T c.*1772C>T (n.*1772C>T) c.*1815C>T (n.*1815C>T) c.1632C>T (p.Pro544=) c.*1356C>T (n.*1356C>T) c.2148C>T (p.Pro716=) c.1428C>T (p.Pro476=) c.2079C>T (p.Pro693=) c.906C>T (p.Pro302=) | gnomAD v4 COSMIC |
11 | g.68158198G>C | CA475514817 | KMT5B | c.1935C>G (p.Pro645=) n.2500C>G c.*1772C>G (n.*1772C>G) c.*1815C>G (n.*1815C>G) c.1632C>G (p.Pro544=) c.*1356C>G (n.*1356C>G) c.2148C>G (p.Pro716=) c.1428C>G (p.Pro476=) c.2079C>G (p.Pro693=) c.906C>G (p.Pro302=) | |
11 | g.68158198G>T | CA475514818 | KMT5B | c.1935C>A (p.Pro645=) n.2500C>A c.*1772C>A (n.*1772C>A) c.*1815C>A (n.*1815C>A) c.1632C>A (p.Pro544=) c.*1356C>A (n.*1356C>A) c.2148C>A (p.Pro716=) c.1428C>A (p.Pro476=) c.2079C>A (p.Pro693=) c.906C>A (p.Pro302=) | |
11 | g.68158199G>A | CA381589536 | KMT5B | c.1934C>T (p.Pro645Leu) n.2499C>T c.*1771C>T (n.*1771C>T) c.*1814C>T (n.*1814C>T) c.1631C>T (p.Pro544Leu) c.*1355C>T (n.*1355C>T) c.2147C>T (p.Pro716Leu) c.1427C>T (p.Pro476Leu) c.2078C>T (p.Pro693Leu) c.905C>T (p.Pro302Leu) | |
11 | g.68158199G>C | CA381589540 | KMT5B | c.1934C>G (p.Pro645Arg) n.2499C>G c.*1771C>G (n.*1771C>G) c.*1814C>G (n.*1814C>G) c.1631C>G (p.Pro544Arg) c.*1355C>G (n.*1355C>G) c.2147C>G (p.Pro716Arg) c.1427C>G (p.Pro476Arg) c.2078C>G (p.Pro693Arg) c.905C>G (p.Pro302Arg) | |
11 | g.68158199G>T | CA381589543 | KMT5B | c.1934C>A (p.Pro645His) n.2499C>A c.*1771C>A (n.*1771C>A) c.*1814C>A (n.*1814C>A) c.1631C>A (p.Pro544His) c.*1355C>A (n.*1355C>A) c.2147C>A (p.Pro716His) c.1427C>A (p.Pro476His) c.2078C>A (p.Pro693His) c.905C>A (p.Pro302His) | |
11 | g.68158200G>A | CA381589546 | KMT5B | c.1933C>T (p.Pro645Ser) n.2498C>T c.*1770C>T (n.*1770C>T) c.*1813C>T (n.*1813C>T) c.1630C>T (p.Pro544Ser) c.*1354C>T (n.*1354C>T) c.2146C>T (p.Pro716Ser) c.1426C>T (p.Pro476Ser) c.2077C>T (p.Pro693Ser) c.904C>T (p.Pro302Ser) | |
11 | g.68158200G>C | CA381589550 | KMT5B | c.1933C>G (p.Pro645Ala) n.2498C>G c.*1770C>G (n.*1770C>G) c.*1813C>G (n.*1813C>G) c.1630C>G (p.Pro544Ala) c.*1354C>G (n.*1354C>G) c.2146C>G (p.Pro716Ala) c.1426C>G (p.Pro476Ala) c.2077C>G (p.Pro693Ala) c.904C>G (p.Pro302Ala) | |
11 | g.68158200G>T | CA381589548 | KMT5B | c.1933C>A (p.Pro645Thr) n.2498C>A c.*1770C>A (n.*1770C>A) c.*1813C>A (n.*1813C>A) c.1630C>A (p.Pro544Thr) c.*1354C>A (n.*1354C>A) c.2146C>A (p.Pro716Thr) c.1426C>A (p.Pro476Thr) c.2077C>A (p.Pro693Thr) c.904C>A (p.Pro302Thr) | |
11 | g.68158201A>C | CA381589553 | KMT5B | c.1932T>G (p.Ile644Met) n.2497T>G c.*1769T>G (n.*1769T>G) c.*1812T>G (n.*1812T>G) c.1629T>G (p.Ile543Met) c.*1353T>G (n.*1353T>G) c.2145T>G (p.Ile715Met) c.1425T>G (p.Ile475Met) c.2076T>G (p.Ile692Met) c.903T>G (p.Ile301Met) | |
11 | g.68158201A>G | CA475514820 | KMT5B | c.1932T>C (p.Ile644=) n.2497T>C c.*1769T>C (n.*1769T>C) c.*1812T>C (n.*1812T>C) c.1629T>C (p.Ile543=) c.*1353T>C (n.*1353T>C) c.2145T>C (p.Ile715=) c.1425T>C (p.Ile475=) c.2076T>C (p.Ile692=) c.903T>C (p.Ile301=) | |
11 | g.68158201A>T | CA475514821 | KMT5B | c.1932T>A (p.Ile644=) n.2497T>A c.*1769T>A (n.*1769T>A) c.*1812T>A (n.*1812T>A) c.1629T>A (p.Ile543=) c.*1353T>A (n.*1353T>A) c.2145T>A (p.Ile715=) c.1425T>A (p.Ile475=) c.2076T>A (p.Ile692=) c.903T>A (p.Ile301=) | |
11 | g.68158202A>C | CA381589554 | KMT5B | c.1931T>G (p.Ile644Ser) n.2496T>G c.*1768T>G (n.*1768T>G) c.*1811T>G (n.*1811T>G) c.1628T>G (p.Ile543Ser) c.*1352T>G (n.*1352T>G) c.2144T>G (p.Ile715Ser) c.1424T>G (p.Ile475Ser) c.2075T>G (p.Ile692Ser) c.902T>G (p.Ile301Ser) | |
11 | g.68158202A>G | CA381589555 | KMT5B | c.1931T>C (p.Ile644Thr) n.2496T>C c.*1768T>C (n.*1768T>C) c.*1811T>C (n.*1811T>C) c.1628T>C (p.Ile543Thr) c.*1352T>C (n.*1352T>C) c.2144T>C (p.Ile715Thr) c.1424T>C (p.Ile475Thr) c.2075T>C (p.Ile692Thr) c.902T>C (p.Ile301Thr) | |
11 | g.68158202A>T | CA381589556 | KMT5B | c.1931T>A (p.Ile644Asn) n.2496T>A c.*1768T>A (n.*1768T>A) c.*1811T>A (n.*1811T>A) c.1628T>A (p.Ile543Asn) c.*1352T>A (n.*1352T>A) c.2144T>A (p.Ile715Asn) c.1424T>A (p.Ile475Asn) c.2075T>A (p.Ile692Asn) c.902T>A (p.Ile301Asn) | |
11 | g.68158203T>A | CA381589561 | KMT5B | c.1930A>T (p.Ile644Phe) n.2495A>T c.*1767A>T (n.*1767A>T) c.*1810A>T (n.*1810A>T) c.1627A>T (p.Ile543Phe) c.*1351A>T (n.*1351A>T) c.2143A>T (p.Ile715Phe) c.1423A>T (p.Ile475Phe) c.2074A>T (p.Ile692Phe) c.901A>T (p.Ile301Phe) | |
11 | g.68158203T>C | CA381589559 | KMT5B | c.1930A>G (p.Ile644Val) n.2495A>G c.*1767A>G (n.*1767A>G) c.*1810A>G (n.*1810A>G) c.1627A>G (p.Ile543Val) c.*1351A>G (n.*1351A>G) c.2143A>G (p.Ile715Val) c.1423A>G (p.Ile475Val) c.2074A>G (p.Ile692Val) c.901A>G (p.Ile301Val) | dbSNP gnomAD v2 |
11 | g.68158203T>G | CA381589558 | KMT5B | c.1930A>C (p.Ile644Leu) n.2495A>C c.*1767A>C (n.*1767A>C) c.*1810A>C (n.*1810A>C) c.1627A>C (p.Ile543Leu) c.*1351A>C (n.*1351A>C) c.2143A>C (p.Ile715Leu) c.1423A>C (p.Ile475Leu) c.2074A>C (p.Ile692Leu) c.901A>C (p.Ile301Leu) | |
11 | g.68158203T= | CA1980500680 | KMT5B | c.1930A= (p.Ile644=) n.2495A= c.*1767A= (n.*1767A=) c.*1810A= (n.*1810A=) c.1627A= (p.Ile543=) c.*1351A= (n.*1351A=) c.2143A= (p.Ile715=) c.1423A= (p.Ile475=) c.2074A= (p.Ile692=) c.901A= (p.Ile301=) | |
11 | g.68158204C>A | CA475514823 | KMT5B | c.1929G>T (p.Gly643=) n.2494G>T c.*1766G>T (n.*1766G>T) c.*1809G>T (n.*1809G>T) c.1626G>T (p.Gly542=) c.*1350G>T (n.*1350G>T) c.2142G>T (p.Gly714=) c.1422G>T (p.Gly474=) c.2073G>T (p.Gly691=) c.900G>T (p.Gly300=) | |
11 | g.68158204C= | CA1980500684 | KMT5B | c.1929G= (p.Gly643=) n.2494G= c.*1766G= (n.*1766G=) c.*1809G= (n.*1809G=) c.1626G= (p.Gly542=) c.*1350G= (n.*1350G=) c.2142G= (p.Gly714=) c.1422G= (p.Gly474=) c.2073G= (p.Gly691=) c.900G= (p.Gly300=) | |
11 | g.68158204C>G | CA475514824 | KMT5B | c.1929G>C (p.Gly643=) n.2494G>C c.*1766G>C (n.*1766G>C) c.*1809G>C (n.*1809G>C) c.1626G>C (p.Gly542=) c.*1350G>C (n.*1350G>C) c.2142G>C (p.Gly714=) c.1422G>C (p.Gly474=) c.2073G>C (p.Gly691=) c.900G>C (p.Gly300=) | |
11 | g.68158204C>T | CA6148049 | KMT5B | c.1929G>A (p.Gly643=) n.2494G>A c.*1766G>A (n.*1766G>A) c.*1809G>A (n.*1809G>A) c.1626G>A (p.Gly542=) c.*1350G>A (n.*1350G>A) c.2142G>A (p.Gly714=) c.1422G>A (p.Gly474=) c.2073G>A (p.Gly691=) c.900G>A (p.Gly300=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68158205C>A | CA381589567 | KMT5B | c.1928G>T (p.Gly643Val) n.2493G>T c.*1765G>T (n.*1765G>T) c.*1808G>T (n.*1808G>T) c.1625G>T (p.Gly542Val) c.*1349G>T (n.*1349G>T) c.2141G>T (p.Gly714Val) c.1421G>T (p.Gly474Val) c.2072G>T (p.Gly691Val) c.899G>T (p.Gly300Val) | |
11 | g.68158205C= | CA1980500692 | KMT5B | c.1928G= (p.Gly643=) n.2493G= c.*1765G= (n.*1765G=) c.*1808G= (n.*1808G=) c.1625G= (p.Gly542=) c.*1349G= (n.*1349G=) c.2141G= (p.Gly714=) c.1421G= (p.Gly474=) c.2072G= (p.Gly691=) c.899G= (p.Gly300=) | |
11 | g.68158205C>G | CA381589566 | KMT5B | c.1928G>C (p.Gly643Ala) n.2493G>C c.*1765G>C (n.*1765G>C) c.*1808G>C (n.*1808G>C) c.1625G>C (p.Gly542Ala) c.*1349G>C (n.*1349G>C) c.2141G>C (p.Gly714Ala) c.1421G>C (p.Gly474Ala) c.2072G>C (p.Gly691Ala) c.899G>C (p.Gly300Ala) | gnomAD v4 |
11 | g.68158205C>T | CA6148050 | KMT5B | c.1928G>A (p.Gly643Glu) n.2493G>A c.*1765G>A (n.*1765G>A) c.*1808G>A (n.*1808G>A) c.1625G>A (p.Gly542Glu) c.*1349G>A (n.*1349G>A) c.2141G>A (p.Gly714Glu) c.1421G>A (p.Gly474Glu) c.2072G>A (p.Gly691Glu) c.899G>A (p.Gly300Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68158206C>A | CA381589569 | KMT5B | c.1927G>T (p.Gly643Trp) n.2492G>T c.*1764G>T (n.*1764G>T) c.*1807G>T (n.*1807G>T) c.1624G>T (p.Gly542Trp) c.*1348G>T (n.*1348G>T) c.2140G>T (p.Gly714Trp) c.1420G>T (p.Gly474Trp) c.2071G>T (p.Gly691Trp) c.898G>T (p.Gly300Trp) | |
11 | g.68158206C>G | CA381589571 | KMT5B | c.1927G>C (p.Gly643Arg) n.2492G>C c.*1764G>C (n.*1764G>C) c.*1807G>C (n.*1807G>C) c.1624G>C (p.Gly542Arg) c.*1348G>C (n.*1348G>C) c.2140G>C (p.Gly714Arg) c.1420G>C (p.Gly474Arg) c.2071G>C (p.Gly691Arg) c.898G>C (p.Gly300Arg) | |
11 | g.68158206C>T | CA381589570 | KMT5B | c.1927G>A (p.Gly643Arg) n.2492G>A c.*1764G>A (n.*1764G>A) c.*1807G>A (n.*1807G>A) c.1624G>A (p.Gly542Arg) c.*1348G>A (n.*1348G>A) c.2140G>A (p.Gly714Arg) c.1420G>A (p.Gly474Arg) c.2071G>A (p.Gly691Arg) c.898G>A (p.Gly300Arg) | |
11 | g.68158207A= | CA1980500698 | KMT5B | c.1926T= (p.Ser642=) n.2491T= c.*1763T= (n.*1763T=) c.*1806T= (n.*1806T=) c.1623T= (p.Ser541=) c.*1347T= (n.*1347T=) c.2139T= (p.Ser713=) c.1419T= (p.Ser473=) c.2070T= (p.Ser690=) c.897T= (p.Ser299=) | |
11 | g.68158207A>C | CA475514829 | KMT5B | c.1926T>G (p.Ser642=) n.2491T>G c.*1763T>G (n.*1763T>G) c.*1806T>G (n.*1806T>G) c.1623T>G (p.Ser541=) c.*1347T>G (n.*1347T>G) c.2139T>G (p.Ser713=) c.1419T>G (p.Ser473=) c.2070T>G (p.Ser690=) c.897T>G (p.Ser299=) | |
11 | g.68158207A>G | CA475514831 | KMT5B | c.1926T>C (p.Ser642=) n.2491T>C c.*1763T>C (n.*1763T>C) c.*1806T>C (n.*1806T>C) c.1623T>C (p.Ser541=) c.*1347T>C (n.*1347T>C) c.2139T>C (p.Ser713=) c.1419T>C (p.Ser473=) c.2070T>C (p.Ser690=) c.897T>C (p.Ser299=) | dbSNP |
11 | g.68158207A>T | CA475514830 | KMT5B | c.1926T>A (p.Ser642=) n.2491T>A c.*1763T>A (n.*1763T>A) c.*1806T>A (n.*1806T>A) c.1623T>A (p.Ser541=) c.*1347T>A (n.*1347T>A) c.2139T>A (p.Ser713=) c.1419T>A (p.Ser473=) c.2070T>A (p.Ser690=) c.897T>A (p.Ser299=) | |
11 | g.68158208G>A | CA381589574 | KMT5B | c.1925C>T (p.Ser642Phe) n.2490C>T c.*1762C>T (n.*1762C>T) c.*1805C>T (n.*1805C>T) c.1622C>T (p.Ser541Phe) c.*1346C>T (n.*1346C>T) c.2138C>T (p.Ser713Phe) c.1418C>T (p.Ser473Phe) c.2069C>T (p.Ser690Phe) c.896C>T (p.Ser299Phe) | |
11 | g.68158208G>C | CA381589576 | KMT5B | c.1925C>G (p.Ser642Cys) n.2490C>G c.*1762C>G (n.*1762C>G) c.*1805C>G (n.*1805C>G) c.1622C>G (p.Ser541Cys) c.*1346C>G (n.*1346C>G) c.2138C>G (p.Ser713Cys) c.1418C>G (p.Ser473Cys) c.2069C>G (p.Ser690Cys) c.896C>G (p.Ser299Cys) | |
11 | g.68158208G>T | CA381589578 | KMT5B | c.1925C>A (p.Ser642Tyr) n.2490C>A c.*1762C>A (n.*1762C>A) c.*1805C>A (n.*1805C>A) c.1622C>A (p.Ser541Tyr) c.*1346C>A (n.*1346C>A) c.2138C>A (p.Ser713Tyr) c.1418C>A (p.Ser473Tyr) c.2069C>A (p.Ser690Tyr) c.896C>A (p.Ser299Tyr) | |
11 | g.68158209A>C | CA381589581 | KMT5B | c.1924T>G (p.Ser642Ala) n.2489T>G c.*1761T>G (n.*1761T>G) c.*1804T>G (n.*1804T>G) c.1621T>G (p.Ser541Ala) c.*1345T>G (n.*1345T>G) c.2137T>G (p.Ser713Ala) c.1417T>G (p.Ser473Ala) c.2068T>G (p.Ser690Ala) c.895T>G (p.Ser299Ala) | |
11 | g.68158209A>G | CA381589584 | KMT5B | c.1924T>C (p.Ser642Pro) n.2489T>C c.*1761T>C (n.*1761T>C) c.*1804T>C (n.*1804T>C) c.1621T>C (p.Ser541Pro) c.*1345T>C (n.*1345T>C) c.2137T>C (p.Ser713Pro) c.1417T>C (p.Ser473Pro) c.2068T>C (p.Ser690Pro) c.895T>C (p.Ser299Pro) | |
11 | g.68158209A>T | CA381589587 | KMT5B | c.1924T>A (p.Ser642Thr) n.2489T>A c.*1761T>A (n.*1761T>A) c.*1804T>A (n.*1804T>A) c.1621T>A (p.Ser541Thr) c.*1345T>A (n.*1345T>A) c.2137T>A (p.Ser713Thr) c.1417T>A (p.Ser473Thr) c.2068T>A (p.Ser690Thr) c.895T>A (p.Ser299Thr) | |
11 | g.68158210G>A | CA6148051 | KMT5B | c.1923C>T (p.Asn641=) n.2488C>T c.*1760C>T (n.*1760C>T) c.*1803C>T (n.*1803C>T) c.1620C>T (p.Asn540=) c.*1344C>T (n.*1344C>T) c.2136C>T (p.Asn712=) c.1416C>T (p.Asn472=) c.2067C>T (p.Asn689=) c.894C>T (p.Asn298=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68158210G>C | CA381589590 | KMT5B | c.1923C>G (p.Asn641Lys) n.2488C>G c.*1760C>G (n.*1760C>G) c.*1803C>G (n.*1803C>G) c.1620C>G (p.Asn540Lys) c.*1344C>G (n.*1344C>G) c.2136C>G (p.Asn712Lys) c.1416C>G (p.Asn472Lys) c.2067C>G (p.Asn689Lys) c.894C>G (p.Asn298Lys) | gnomAD v4 |
11 | g.68158210G= | CA1980500703 | KMT5B | c.1923C= (p.Asn641=) n.2488C= c.*1760C= (n.*1760C=) c.*1803C= (n.*1803C=) c.1620C= (p.Asn540=) c.*1344C= (n.*1344C=) c.2136C= (p.Asn712=) c.1416C= (p.Asn472=) c.2067C= (p.Asn689=) c.894C= (p.Asn298=) | |
11 | g.68158210G>T | CA381589597 | KMT5B | c.1923C>A (p.Asn641Lys) n.2488C>A c.*1760C>A (n.*1760C>A) c.*1803C>A (n.*1803C>A) c.1620C>A (p.Asn540Lys) c.*1344C>A (n.*1344C>A) c.2136C>A (p.Asn712Lys) c.1416C>A (p.Asn472Lys) c.2067C>A (p.Asn689Lys) c.894C>A (p.Asn298Lys) | COSMIC COSMIC |
11 | g.68158211T>A | CA381589600 | KMT5B | c.1922A>T (p.Asn641Ile) n.2487A>T c.*1759A>T (n.*1759A>T) c.*1802A>T (n.*1802A>T) c.1619A>T (p.Asn540Ile) c.*1343A>T (n.*1343A>T) c.2135A>T (p.Asn712Ile) c.1415A>T (p.Asn472Ile) c.2066A>T (p.Asn689Ile) c.893A>T (p.Asn298Ile) | |
11 | g.68158211T>C | CA381589615 | KMT5B | c.1922A>G (p.Asn641Ser) n.2487A>G c.*1759A>G (n.*1759A>G) c.*1802A>G (n.*1802A>G) c.1619A>G (p.Asn540Ser) c.*1343A>G (n.*1343A>G) c.2135A>G (p.Asn712Ser) c.1415A>G (p.Asn472Ser) c.2066A>G (p.Asn689Ser) c.893A>G (p.Asn298Ser) | |
11 | g.68158211T>G | CA381589618 | KMT5B | c.1922A>C (p.Asn641Thr) n.2487A>C c.*1759A>C (n.*1759A>C) c.*1802A>C (n.*1802A>C) c.1619A>C (p.Asn540Thr) c.*1343A>C (n.*1343A>C) c.2135A>C (p.Asn712Thr) c.1415A>C (p.Asn472Thr) c.2066A>C (p.Asn689Thr) c.893A>C (p.Asn298Thr) | |
11 | g.68158212T>A | CA381589626 | KMT5B | c.1921A>T (p.Asn641Tyr) n.2486A>T c.*1758A>T (n.*1758A>T) c.*1801A>T (n.*1801A>T) c.1618A>T (p.Asn540Tyr) c.*1342A>T (n.*1342A>T) c.2134A>T (p.Asn712Tyr) c.1414A>T (p.Asn472Tyr) c.2065A>T (p.Asn689Tyr) c.892A>T (p.Asn298Tyr) | |
11 | g.68158212T>C | CA381589621 | KMT5B | c.1921A>G (p.Asn641Asp) n.2486A>G c.*1758A>G (n.*1758A>G) c.*1801A>G (n.*1801A>G) c.1618A>G (p.Asn540Asp) c.*1342A>G (n.*1342A>G) c.2134A>G (p.Asn712Asp) c.1414A>G (p.Asn472Asp) c.2065A>G (p.Asn689Asp) c.892A>G (p.Asn298Asp) | |
11 | g.68158212T>G | CA381589623 | KMT5B | c.1921A>C (p.Asn641His) n.2486A>C c.*1758A>C (n.*1758A>C) c.*1801A>C (n.*1801A>C) c.1618A>C (p.Asn540His) c.*1342A>C (n.*1342A>C) c.2134A>C (p.Asn712His) c.1414A>C (p.Asn472His) c.2065A>C (p.Asn689His) c.892A>C (p.Asn298His) | |
11 | g.68158213A= | CA1980500708 | KMT5B | c.1920T= (p.Asn640=) n.2485T= c.*1757T= (n.*1757T=) c.*1800T= (n.*1800T=) c.1617T= (p.Asn539=) c.*1341T= (n.*1341T=) c.2133T= (p.Asn711=) c.1413T= (p.Asn471=) c.2064T= (p.Asn688=) c.891T= (p.Asn297=) | |
11 | g.68158213A>C | CA381589628 | KMT5B | c.1920T>G (p.Asn640Lys) n.2485T>G c.*1757T>G (n.*1757T>G) c.*1800T>G (n.*1800T>G) c.1617T>G (p.Asn539Lys) c.*1341T>G (n.*1341T>G) c.2133T>G (p.Asn711Lys) c.1413T>G (p.Asn471Lys) c.2064T>G (p.Asn688Lys) c.891T>G (p.Asn297Lys) | |
11 | g.68158213A>G | CA475514836 | KMT5B | c.1920T>C (p.Asn640=) n.2485T>C c.*1757T>C (n.*1757T>C) c.*1800T>C (n.*1800T>C) c.1617T>C (p.Asn539=) c.*1341T>C (n.*1341T>C) c.2133T>C (p.Asn711=) c.1413T>C (p.Asn471=) c.2064T>C (p.Asn688=) c.891T>C (p.Asn297=) | dbSNP gnomAD v4 |
11 | g.68158213A>T | CA381589630 | KMT5B | c.1920T>A (p.Asn640Lys) n.2485T>A c.*1757T>A (n.*1757T>A) c.*1800T>A (n.*1800T>A) c.1617T>A (p.Asn539Lys) c.*1341T>A (n.*1341T>A) c.2133T>A (p.Asn711Lys) c.1413T>A (p.Asn471Lys) c.2064T>A (p.Asn688Lys) c.891T>A (p.Asn297Lys) | |
11 | g.68158214T>A | CA381589633 | KMT5B | c.1919A>T (p.Asn640Ile) n.2484A>T c.*1756A>T (n.*1756A>T) c.*1799A>T (n.*1799A>T) c.1616A>T (p.Asn539Ile) c.*1340A>T (n.*1340A>T) c.2132A>T (p.Asn711Ile) c.1412A>T (p.Asn471Ile) c.2063A>T (p.Asn688Ile) c.890A>T (p.Asn297Ile) | |
11 | g.68158214T>C | CA381589636 | KMT5B | c.1919A>G (p.Asn640Ser) n.2484A>G c.*1756A>G (n.*1756A>G) c.*1799A>G (n.*1799A>G) c.1616A>G (p.Asn539Ser) c.*1340A>G (n.*1340A>G) c.2132A>G (p.Asn711Ser) c.1412A>G (p.Asn471Ser) c.2063A>G (p.Asn688Ser) c.890A>G (p.Asn297Ser) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68158214T>G | CA381589639 | KMT5B | c.1919A>C (p.Asn640Thr) n.2484A>C c.*1756A>C (n.*1756A>C) c.*1799A>C (n.*1799A>C) c.1616A>C (p.Asn539Thr) c.*1340A>C (n.*1340A>C) c.2132A>C (p.Asn711Thr) c.1412A>C (p.Asn471Thr) c.2063A>C (p.Asn688Thr) c.890A>C (p.Asn297Thr) | |
11 | g.68158214T= | CA1980500712 | KMT5B | c.1919A= (p.Asn640=) n.2484A= c.*1756A= (n.*1756A=) c.*1799A= (n.*1799A=) c.1616A= (p.Asn539=) c.*1340A= (n.*1340A=) c.2132A= (p.Asn711=) c.1412A= (p.Asn471=) c.2063A= (p.Asn688=) c.890A= (p.Asn297=) | |
11 | g.68158215T>A | CA381589644 | KMT5B | c.1918A>T (p.Asn640Tyr) n.2483A>T c.*1755A>T (n.*1755A>T) c.*1798A>T (n.*1798A>T) c.1615A>T (p.Asn539Tyr) c.*1339A>T (n.*1339A>T) c.2131A>T (p.Asn711Tyr) c.1411A>T (p.Asn471Tyr) c.2062A>T (p.Asn688Tyr) c.889A>T (p.Asn297Tyr) | |
11 | g.68158215T>C | CA381589645 | KMT5B | c.1918A>G (p.Asn640Asp) n.2483A>G c.*1755A>G (n.*1755A>G) c.*1798A>G (n.*1798A>G) c.1615A>G (p.Asn539Asp) c.*1339A>G (n.*1339A>G) c.2131A>G (p.Asn711Asp) c.1411A>G (p.Asn471Asp) c.2062A>G (p.Asn688Asp) c.889A>G (p.Asn297Asp) | |
11 | g.68158215T>G | CA381589648 | KMT5B | c.1918A>C (p.Asn640His) n.2483A>C c.*1755A>C (n.*1755A>C) c.*1798A>C (n.*1798A>C) c.1615A>C (p.Asn539His) c.*1339A>C (n.*1339A>C) c.2131A>C (p.Asn711His) c.1411A>C (p.Asn471His) c.2062A>C (p.Asn688His) c.889A>C (p.Asn297His) | |
11 | g.68158216T>A | CA381589650 | KMT5B | c.1917A>T (p.Glu639Asp) n.2482A>T c.*1754A>T (n.*1754A>T) c.*1797A>T (n.*1797A>T) c.1614A>T (p.Glu538Asp) c.*1338A>T (n.*1338A>T) c.2130A>T (p.Glu710Asp) c.1410A>T (p.Glu470Asp) c.2061A>T (p.Glu687Asp) c.888A>T (p.Glu296Asp) | |
11 | g.68158216T>C | CA475514839 | KMT5B | c.1917A>G (p.Glu639=) n.2482A>G c.*1754A>G (n.*1754A>G) c.*1797A>G (n.*1797A>G) c.1614A>G (p.Glu538=) c.*1338A>G (n.*1338A>G) c.2130A>G (p.Glu710=) c.1410A>G (p.Glu470=) c.2061A>G (p.Glu687=) c.888A>G (p.Glu296=) | |
11 | g.68158216T>G | CA381589652 | KMT5B | c.1917A>C (p.Glu639Asp) n.2482A>C c.*1754A>C (n.*1754A>C) c.*1797A>C (n.*1797A>C) c.1614A>C (p.Glu538Asp) c.*1338A>C (n.*1338A>C) c.2130A>C (p.Glu710Asp) c.1410A>C (p.Glu470Asp) c.2061A>C (p.Glu687Asp) c.888A>C (p.Glu296Asp) | |
11 | g.68158217T>A | CA381589659 | KMT5B | c.1916A>T (p.Glu639Val) n.2481A>T c.*1753A>T (n.*1753A>T) c.*1796A>T (n.*1796A>T) c.1613A>T (p.Glu538Val) c.*1337A>T (n.*1337A>T) c.2129A>T (p.Glu710Val) c.1409A>T (p.Glu470Val) c.2060A>T (p.Glu687Val) c.887A>T (p.Glu296Val) | |
11 | g.68158217T>C | CA381589658 | KMT5B | c.1916A>G (p.Glu639Gly) n.2481A>G c.*1753A>G (n.*1753A>G) c.*1796A>G (n.*1796A>G) c.1613A>G (p.Glu538Gly) c.*1337A>G (n.*1337A>G) c.2129A>G (p.Glu710Gly) c.1409A>G (p.Glu470Gly) c.2060A>G (p.Glu687Gly) c.887A>G (p.Glu296Gly) | gnomAD v4 |
11 | g.68158217T>G | CA381589655 | KMT5B | c.1916A>C (p.Glu639Ala) n.2481A>C c.*1753A>C (n.*1753A>C) c.*1796A>C (n.*1796A>C) c.1613A>C (p.Glu538Ala) c.*1337A>C (n.*1337A>C) c.2129A>C (p.Glu710Ala) c.1409A>C (p.Glu470Ala) c.2060A>C (p.Glu687Ala) c.887A>C (p.Glu296Ala) | |
11 | g.68158218C>A | CA381589663 | KMT5B | c.1915G>T (p.Glu639Ter) n.2480G>T c.*1752G>T (n.*1752G>T) c.*1795G>T (n.*1795G>T) c.1612G>T (p.Glu538Ter) c.*1336G>T (n.*1336G>T) c.2128G>T (p.Glu710Ter) c.1408G>T (p.Glu470Ter) c.2059G>T (p.Glu687Ter) c.886G>T (p.Glu296Ter) | |
11 | g.68158218C>G | CA381589665 | KMT5B | c.1915G>C (p.Glu639Gln) n.2480G>C c.*1752G>C (n.*1752G>C) c.*1795G>C (n.*1795G>C) c.1612G>C (p.Glu538Gln) c.*1336G>C (n.*1336G>C) c.2128G>C (p.Glu710Gln) c.1408G>C (p.Glu470Gln) c.2059G>C (p.Glu687Gln) c.886G>C (p.Glu296Gln) | |
11 | g.68158218C>T | CA381589669 | KMT5B | c.1915G>A (p.Glu639Lys) n.2480G>A c.*1752G>A (n.*1752G>A) c.*1795G>A (n.*1795G>A) c.1612G>A (p.Glu538Lys) c.*1336G>A (n.*1336G>A) c.2128G>A (p.Glu710Lys) c.1408G>A (p.Glu470Lys) c.2059G>A (p.Glu687Lys) c.886G>A (p.Glu296Lys) | |
11 | g.68158219T>A | CA475514840 | KMT5B | c.1914A>T (p.Leu638=) n.2479A>T c.*1751A>T (n.*1751A>T) c.*1794A>T (n.*1794A>T) c.1611A>T (p.Leu537=) c.*1335A>T (n.*1335A>T) c.2127A>T (p.Leu709=) c.1407A>T (p.Leu469=) c.2058A>T (p.Leu686=) c.885A>T (p.Leu295=) | |
11 | g.68158219T>C | CA475514841 | KMT5B | c.1914A>G (p.Leu638=) n.2479A>G c.*1751A>G (n.*1751A>G) c.*1794A>G (n.*1794A>G) c.1611A>G (p.Leu537=) c.*1335A>G (n.*1335A>G) c.2127A>G (p.Leu709=) c.1407A>G (p.Leu469=) c.2058A>G (p.Leu686=) c.885A>G (p.Leu295=) | |
11 | g.68158219T>G | CA475514842 | KMT5B | c.1914A>C (p.Leu638=) n.2479A>C c.*1751A>C (n.*1751A>C) c.*1794A>C (n.*1794A>C) c.1611A>C (p.Leu537=) c.*1335A>C (n.*1335A>C) c.2127A>C (p.Leu709=) c.1407A>C (p.Leu469=) c.2058A>C (p.Leu686=) c.885A>C (p.Leu295=) | |
11 | g.68158220A>C | CA381589673 | KMT5B | c.1913T>G (p.Leu638Arg) n.2478T>G c.*1750T>G (n.*1750T>G) c.*1793T>G (n.*1793T>G) c.1610T>G (p.Leu537Arg) c.*1334T>G (n.*1334T>G) c.2126T>G (p.Leu709Arg) c.1406T>G (p.Leu469Arg) c.2057T>G (p.Leu686Arg) c.884T>G (p.Leu295Arg) | |
11 | g.68158220A>G | CA381589675 | KMT5B | c.1913T>C (p.Leu638Pro) n.2478T>C c.*1750T>C (n.*1750T>C) c.*1793T>C (n.*1793T>C) c.1610T>C (p.Leu537Pro) c.*1334T>C (n.*1334T>C) c.2126T>C (p.Leu709Pro) c.1406T>C (p.Leu469Pro) c.2057T>C (p.Leu686Pro) c.884T>C (p.Leu295Pro) | |
11 | g.68158220A>T | CA381589676 | KMT5B | c.1913T>A (p.Leu638Gln) n.2478T>A c.*1750T>A (n.*1750T>A) c.*1793T>A (n.*1793T>A) c.1610T>A (p.Leu537Gln) c.*1334T>A (n.*1334T>A) c.2126T>A (p.Leu709Gln) c.1406T>A (p.Leu469Gln) c.2057T>A (p.Leu686Gln) c.884T>A (p.Leu295Gln) | |
11 | g.68158221G>A | CA475514844 | KMT5B | c.1912C>T (p.Leu638=) n.2477C>T c.*1749C>T (n.*1749C>T) c.*1792C>T (n.*1792C>T) c.1609C>T (p.Leu537=) c.*1333C>T (n.*1333C>T) c.2125C>T (p.Leu709=) c.1405C>T (p.Leu469=) c.2056C>T (p.Leu686=) c.883C>T (p.Leu295=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68158221G>C | CA381589680 | KMT5B | c.1912C>G (p.Leu638Val) n.2477C>G c.*1749C>G (n.*1749C>G) c.*1792C>G (n.*1792C>G) c.1609C>G (p.Leu537Val) c.*1333C>G (n.*1333C>G) c.2125C>G (p.Leu709Val) c.1405C>G (p.Leu469Val) c.2056C>G (p.Leu686Val) c.883C>G (p.Leu295Val) | |
11 | g.68158221G= | CA1980500729 | KMT5B | c.1912C= (p.Leu638=) n.2477C= c.*1749C= (n.*1749C=) c.*1792C= (n.*1792C=) c.1609C= (p.Leu537=) c.*1333C= (n.*1333C=) c.2125C= (p.Leu709=) c.1405C= (p.Leu469=) c.2056C= (p.Leu686=) c.883C= (p.Leu295=) | |
11 | g.68158221G>T | CA381589681 | KMT5B | c.1912C>A (p.Leu638Ile) n.2477C>A c.*1749C>A (n.*1749C>A) c.*1792C>A (n.*1792C>A) c.1609C>A (p.Leu537Ile) c.*1333C>A (n.*1333C>A) c.2125C>A (p.Leu709Ile) c.1405C>A (p.Leu469Ile) c.2056C>A (p.Leu686Ile) c.883C>A (p.Leu295Ile) | COSMIC COSMIC |
11 | g.68158222G>A | CA475514847 | KMT5B | c.1911C>T (p.Ile637=) n.2476C>T c.*1748C>T (n.*1748C>T) c.*1791C>T (n.*1791C>T) c.1608C>T (p.Ile536=) c.*1332C>T (n.*1332C>T) c.2124C>T (p.Ile708=) c.1404C>T (p.Ile468=) c.2055C>T (p.Ile685=) c.882C>T (p.Ile294=) | gnomAD v4 |
11 | g.68158222G>C | CA381589686 | KMT5B | c.1911C>G (p.Ile637Met) n.2476C>G c.*1748C>G (n.*1748C>G) c.*1791C>G (n.*1791C>G) c.1608C>G (p.Ile536Met) c.*1332C>G (n.*1332C>G) c.2124C>G (p.Ile708Met) c.1404C>G (p.Ile468Met) c.2055C>G (p.Ile685Met) c.882C>G (p.Ile294Met) | gnomAD v4 |
11 | g.68158222G>T | CA475514848 | KMT5B | c.1911C>A (p.Ile637=) n.2476C>A c.*1748C>A (n.*1748C>A) c.*1791C>A (n.*1791C>A) c.1608C>A (p.Ile536=) c.*1332C>A (n.*1332C>A) c.2124C>A (p.Ile708=) c.1404C>A (p.Ile468=) c.2055C>A (p.Ile685=) c.882C>A (p.Ile294=) | |
11 | g.68158223A>C | CA381589691 | KMT5B | c.1910T>G (p.Ile637Ser) n.2475T>G c.*1747T>G (n.*1747T>G) c.*1790T>G (n.*1790T>G) c.1607T>G (p.Ile536Ser) c.*1331T>G (n.*1331T>G) c.2123T>G (p.Ile708Ser) c.1403T>G (p.Ile468Ser) c.2054T>G (p.Ile685Ser) c.881T>G (p.Ile294Ser) | |
11 | g.68158223A>G | CA381589693 | KMT5B | c.1910T>C (p.Ile637Thr) n.2475T>C c.*1747T>C (n.*1747T>C) c.*1790T>C (n.*1790T>C) c.1607T>C (p.Ile536Thr) c.*1331T>C (n.*1331T>C) c.2123T>C (p.Ile708Thr) c.1403T>C (p.Ile468Thr) c.2054T>C (p.Ile685Thr) c.881T>C (p.Ile294Thr) | |
11 | g.68158223A>T | CA381589696 | KMT5B | c.1910T>A (p.Ile637Asn) n.2475T>A c.*1747T>A (n.*1747T>A) c.*1790T>A (n.*1790T>A) c.1607T>A (p.Ile536Asn) c.*1331T>A (n.*1331T>A) c.2123T>A (p.Ile708Asn) c.1403T>A (p.Ile468Asn) c.2054T>A (p.Ile685Asn) c.881T>A (p.Ile294Asn) | |
11 | g.68158224T>A | CA381589707 | KMT5B | c.1909A>T (p.Ile637Phe) n.2474A>T c.*1746A>T (n.*1746A>T) c.*1789A>T (n.*1789A>T) c.1606A>T (p.Ile536Phe) c.*1330A>T (n.*1330A>T) c.2122A>T (p.Ile708Phe) c.1402A>T (p.Ile468Phe) c.2053A>T (p.Ile685Phe) c.880A>T (p.Ile294Phe) | |
11 | g.68158224T>C | CA381589703 | KMT5B | c.1909A>G (p.Ile637Val) n.2474A>G c.*1746A>G (n.*1746A>G) c.*1789A>G (n.*1789A>G) c.1606A>G (p.Ile536Val) c.*1330A>G (n.*1330A>G) c.2122A>G (p.Ile708Val) c.1402A>G (p.Ile468Val) c.2053A>G (p.Ile685Val) c.880A>G (p.Ile294Val) | |
11 | g.68158224T>G | CA381589699 | KMT5B | c.1909A>C (p.Ile637Leu) n.2474A>C c.*1746A>C (n.*1746A>C) c.*1789A>C (n.*1789A>C) c.1606A>C (p.Ile536Leu) c.*1330A>C (n.*1330A>C) c.2122A>C (p.Ile708Leu) c.1402A>C (p.Ile468Leu) c.2053A>C (p.Ile685Leu) c.880A>C (p.Ile294Leu) | |
11 | g.68158225T>A | CA381589709 | KMT5B | c.1908A>T (p.Leu636Phe) n.2473A>T c.*1745A>T (n.*1745A>T) c.*1788A>T (n.*1788A>T) c.1605A>T (p.Leu535Phe) c.*1329A>T (n.*1329A>T) c.2121A>T (p.Leu707Phe) c.1401A>T (p.Leu467Phe) c.2052A>T (p.Leu684Phe) c.879A>T (p.Leu293Phe) | COSMIC COSMIC |
11 | g.68158225T>C | CA475514852 | KMT5B | c.1908A>G (p.Leu636=) n.2473A>G c.*1745A>G (n.*1745A>G) c.*1788A>G (n.*1788A>G) c.1605A>G (p.Leu535=) c.*1329A>G (n.*1329A>G) c.2121A>G (p.Leu707=) c.1401A>G (p.Leu467=) c.2052A>G (p.Leu684=) c.879A>G (p.Leu293=) | |
11 | g.68158225T>G | CA381589712 | KMT5B | c.1908A>C (p.Leu636Phe) n.2473A>C c.*1745A>C (n.*1745A>C) c.*1788A>C (n.*1788A>C) c.1605A>C (p.Leu535Phe) c.*1329A>C (n.*1329A>C) c.2121A>C (p.Leu707Phe) c.1401A>C (p.Leu467Phe) c.2052A>C (p.Leu684Phe) c.879A>C (p.Leu293Phe) | |
11 | g.68158226A>C | CA381589717 | KMT5B | c.1907T>G (p.Leu636Ter) n.2472T>G c.*1744T>G (n.*1744T>G) c.*1787T>G (n.*1787T>G) c.1604T>G (p.Leu535Ter) c.*1328T>G (n.*1328T>G) c.2120T>G (p.Leu707Ter) c.1400T>G (p.Leu467Ter) c.2051T>G (p.Leu684Ter) c.878T>G (p.Leu293Ter) | |
11 | g.68158226A>G | CA381589719 | KMT5B | c.1907T>C (p.Leu636Ser) n.2472T>C c.*1744T>C (n.*1744T>C) c.*1787T>C (n.*1787T>C) c.1604T>C (p.Leu535Ser) c.*1328T>C (n.*1328T>C) c.2120T>C (p.Leu707Ser) c.1400T>C (p.Leu467Ser) c.2051T>C (p.Leu684Ser) c.878T>C (p.Leu293Ser) | |
11 | g.68158226A>T | CA381589726 | KMT5B | c.1907T>A (p.Leu636Ter) n.2472T>A c.*1744T>A (n.*1744T>A) c.*1787T>A (n.*1787T>A) c.1604T>A (p.Leu535Ter) c.*1328T>A (n.*1328T>A) c.2120T>A (p.Leu707Ter) c.1400T>A (p.Leu467Ter) c.2051T>A (p.Leu684Ter) c.878T>A (p.Leu293Ter) | |
11 | g.68158227A>C | CA381589729 | KMT5B | c.1906T>G (p.Leu636Val) n.2471T>G c.*1743T>G (n.*1743T>G) c.*1786T>G (n.*1786T>G) c.1603T>G (p.Leu535Val) c.*1327T>G (n.*1327T>G) c.2119T>G (p.Leu707Val) c.1399T>G (p.Leu467Val) c.2050T>G (p.Leu684Val) c.877T>G (p.Leu293Val) | |
11 | g.68158227A>G | CA475514853 | KMT5B | c.1906T>C (p.Leu636=) n.2471T>C c.*1743T>C (n.*1743T>C) c.*1786T>C (n.*1786T>C) c.1603T>C (p.Leu535=) c.*1327T>C (n.*1327T>C) c.2119T>C (p.Leu707=) c.1399T>C (p.Leu467=) c.2050T>C (p.Leu684=) c.877T>C (p.Leu293=) | |
11 | g.68158227A>T | CA381589731 | KMT5B | c.1906T>A (p.Leu636Ile) n.2471T>A c.*1743T>A (n.*1743T>A) c.*1786T>A (n.*1786T>A) c.1603T>A (p.Leu535Ile) c.*1327T>A (n.*1327T>A) c.2119T>A (p.Leu707Ile) c.1399T>A (p.Leu467Ile) c.2050T>A (p.Leu684Ile) c.877T>A (p.Leu293Ile) | |
11 | g.68158228C>A | CA381589735 | KMT5B | c.1905G>T (p.Gln635His) n.2470G>T c.*1742G>T (n.*1742G>T) c.*1785G>T (n.*1785G>T) c.1602G>T (p.Gln534His) c.*1326G>T (n.*1326G>T) c.2118G>T (p.Gln706His) c.1398G>T (p.Gln466His) c.2049G>T (p.Gln683His) c.876G>T (p.Gln292His) | |
11 | g.68158228C>G | CA381589736 | KMT5B | c.1905G>C (p.Gln635His) n.2470G>C c.*1742G>C (n.*1742G>C) c.*1785G>C (n.*1785G>C) c.1602G>C (p.Gln534His) c.*1326G>C (n.*1326G>C) c.2118G>C (p.Gln706His) c.1398G>C (p.Gln466His) c.2049G>C (p.Gln683His) c.876G>C (p.Gln292His) | |
11 | g.68158228C>T | CA475514854 | KMT5B | c.1905G>A (p.Gln635=) n.2470G>A c.*1742G>A (n.*1742G>A) c.*1785G>A (n.*1785G>A) c.1602G>A (p.Gln534=) c.*1326G>A (n.*1326G>A) c.2118G>A (p.Gln706=) c.1398G>A (p.Gln466=) c.2049G>A (p.Gln683=) c.876G>A (p.Gln292=) | |
11 | g.68158229T>A | CA381589741 | KMT5B | c.1904A>T (p.Gln635Leu) n.2469A>T c.*1741A>T (n.*1741A>T) c.*1784A>T (n.*1784A>T) c.1601A>T (p.Gln534Leu) c.*1325A>T (n.*1325A>T) c.2117A>T (p.Gln706Leu) c.1397A>T (p.Gln466Leu) c.2048A>T (p.Gln683Leu) c.875A>T (p.Gln292Leu) | |
11 | g.68158229T>C | CA381589747 | KMT5B | c.1904A>G (p.Gln635Arg) n.2469A>G c.*1741A>G (n.*1741A>G) c.*1784A>G (n.*1784A>G) c.1601A>G (p.Gln534Arg) c.*1325A>G (n.*1325A>G) c.2117A>G (p.Gln706Arg) c.1397A>G (p.Gln466Arg) c.2048A>G (p.Gln683Arg) c.875A>G (p.Gln292Arg) | |
11 | g.68158229T>G | CA381589767 | KMT5B | c.1904A>C (p.Gln635Pro) n.2469A>C c.*1741A>C (n.*1741A>C) c.*1784A>C (n.*1784A>C) c.1601A>C (p.Gln534Pro) c.*1325A>C (n.*1325A>C) c.2117A>C (p.Gln706Pro) c.1397A>C (p.Gln466Pro) c.2048A>C (p.Gln683Pro) c.875A>C (p.Gln292Pro) | |
11 | g.68158230G>A | CA381589779 | KMT5B | c.1903C>T (p.Gln635Ter) n.2468C>T c.*1740C>T (n.*1740C>T) c.*1783C>T (n.*1783C>T) c.1600C>T (p.Gln534Ter) c.*1324C>T (n.*1324C>T) c.2116C>T (p.Gln706Ter) c.1396C>T (p.Gln466Ter) c.2047C>T (p.Gln683Ter) c.874C>T (p.Gln292Ter) | |
11 | g.68158230G>C | CA381589776 | KMT5B | c.1903C>G (p.Gln635Glu) n.2468C>G c.*1740C>G (n.*1740C>G) c.*1783C>G (n.*1783C>G) c.1600C>G (p.Gln534Glu) c.*1324C>G (n.*1324C>G) c.2116C>G (p.Gln706Glu) c.1396C>G (p.Gln466Glu) c.2047C>G (p.Gln683Glu) c.874C>G (p.Gln292Glu) | |
11 | g.68158230G>T | CA381589772 | KMT5B | c.1903C>A (p.Gln635Lys) n.2468C>A c.*1740C>A (n.*1740C>A) c.*1783C>A (n.*1783C>A) c.1600C>A (p.Gln534Lys) c.*1324C>A (n.*1324C>A) c.2116C>A (p.Gln706Lys) c.1396C>A (p.Gln466Lys) c.2047C>A (p.Gln683Lys) c.874C>A (p.Gln292Lys) | |
11 | g.68158231T>A | CA475514858 | KMT5B | c.1902A>T (p.Ala634=) n.2467A>T c.*1739A>T (n.*1739A>T) c.*1782A>T (n.*1782A>T) c.1599A>T (p.Ala533=) c.*1323A>T (n.*1323A>T) c.2115A>T (p.Ala705=) c.1395A>T (p.Ala465=) c.2046A>T (p.Ala682=) c.873A>T (p.Ala291=) | |
11 | g.68158231T>C | CA475514856 | KMT5B | c.1902A>G (p.Ala634=) n.2467A>G c.*1739A>G (n.*1739A>G) c.*1782A>G (n.*1782A>G) c.1599A>G (p.Ala533=) c.*1323A>G (n.*1323A>G) c.2115A>G (p.Ala705=) c.1395A>G (p.Ala465=) c.2046A>G (p.Ala682=) c.873A>G (p.Ala291=) | gnomAD v4 |
11 | g.68158231T>G | CA475514855 | KMT5B | c.1902A>C (p.Ala634=) n.2467A>C c.*1739A>C (n.*1739A>C) c.*1782A>C (n.*1782A>C) c.1599A>C (p.Ala533=) c.*1323A>C (n.*1323A>C) c.2115A>C (p.Ala705=) c.1395A>C (p.Ala465=) c.2046A>C (p.Ala682=) c.873A>C (p.Ala291=) | |
11 | g.68158232G>A | CA381589783 | KMT5B | c.1901C>T (p.Ala634Val) n.2466C>T c.*1738C>T (n.*1738C>T) c.*1781C>T (n.*1781C>T) c.1598C>T (p.Ala533Val) c.*1322C>T (n.*1322C>T) c.2114C>T (p.Ala705Val) c.1394C>T (p.Ala465Val) c.2045C>T (p.Ala682Val) c.872C>T (p.Ala291Val) | dbSNP |
11 | g.68158232G>C | CA381589787 | KMT5B | c.1901C>G (p.Ala634Gly) n.2466C>G c.*1738C>G (n.*1738C>G) c.*1781C>G (n.*1781C>G) c.1598C>G (p.Ala533Gly) c.*1322C>G (n.*1322C>G) c.2114C>G (p.Ala705Gly) c.1394C>G (p.Ala465Gly) c.2045C>G (p.Ala682Gly) c.872C>G (p.Ala291Gly) | |
11 | g.68158232G= | CA1980500734 | KMT5B | c.1901C= (p.Ala634=) n.2466C= c.*1738C= (n.*1738C=) c.*1781C= (n.*1781C=) c.1598C= (p.Ala533=) c.*1322C= (n.*1322C=) c.2114C= (p.Ala705=) c.1394C= (p.Ala465=) c.2045C= (p.Ala682=) c.872C= (p.Ala291=) | |
11 | g.68158232G>T | CA381589785 | KMT5B | c.1901C>A (p.Ala634Glu) n.2466C>A c.*1738C>A (n.*1738C>A) c.*1781C>A (n.*1781C>A) c.1598C>A (p.Ala533Glu) c.*1322C>A (n.*1322C>A) c.2114C>A (p.Ala705Glu) c.1394C>A (p.Ala465Glu) c.2045C>A (p.Ala682Glu) c.872C>A (p.Ala291Glu) | |
11 | g.68158233C>A | CA381589804 | KMT5B | c.1900G>T (p.Ala634Ser) n.2465G>T c.*1737G>T (n.*1737G>T) c.*1780G>T (n.*1780G>T) c.1597G>T (p.Ala533Ser) c.*1321G>T (n.*1321G>T) c.2113G>T (p.Ala705Ser) c.1393G>T (p.Ala465Ser) c.2044G>T (p.Ala682Ser) c.871G>T (p.Ala291Ser) | |
11 | g.68158233C>G | CA381589805 | KMT5B | c.1900G>C (p.Ala634Pro) n.2465G>C c.*1737G>C (n.*1737G>C) c.*1780G>C (n.*1780G>C) c.1597G>C (p.Ala533Pro) c.*1321G>C (n.*1321G>C) c.2113G>C (p.Ala705Pro) c.1393G>C (p.Ala465Pro) c.2044G>C (p.Ala682Pro) c.871G>C (p.Ala291Pro) | |
11 | g.68158233C>T | CA381589808 | KMT5B | c.1900G>A (p.Ala634Thr) n.2465G>A c.*1737G>A (n.*1737G>A) c.*1780G>A (n.*1780G>A) c.1597G>A (p.Ala533Thr) c.*1321G>A (n.*1321G>A) c.2113G>A (p.Ala705Thr) c.1393G>A (p.Ala465Thr) c.2044G>A (p.Ala682Thr) c.871G>A (p.Ala291Thr) | |
11 | g.68158234A>C | CA381589811 | KMT5B | c.1899T>G (p.Asp633Glu) n.2464T>G c.*1736T>G (n.*1736T>G) c.*1779T>G (n.*1779T>G) c.1596T>G (p.Asp532Glu) c.*1320T>G (n.*1320T>G) c.2112T>G (p.Asp704Glu) c.1392T>G (p.Asp464Glu) c.2043T>G (p.Asp681Glu) c.870T>G (p.Asp290Glu) | |
11 | g.68158234A>G | CA475514860 | KMT5B | c.1899T>C (p.Asp633=) n.2464T>C c.*1736T>C (n.*1736T>C) c.*1779T>C (n.*1779T>C) c.1596T>C (p.Asp532=) c.*1320T>C (n.*1320T>C) c.2112T>C (p.Asp704=) c.1392T>C (p.Asp464=) c.2043T>C (p.Asp681=) c.870T>C (p.Asp290=) | dbSNP |
11 | g.68158234A>T | CA381589815 | KMT5B | c.1899T>A (p.Asp633Glu) n.2464T>A c.*1736T>A (n.*1736T>A) c.*1779T>A (n.*1779T>A) c.1596T>A (p.Asp532Glu) c.*1320T>A (n.*1320T>A) c.2112T>A (p.Asp704Glu) c.1392T>A (p.Asp464Glu) c.2043T>A (p.Asp681Glu) c.870T>A (p.Asp290Glu) | |
11 | g.68158235T>A | CA381589826 | KMT5B | c.1898A>T (p.Asp633Val) n.2463A>T c.*1735A>T (n.*1735A>T) c.*1778A>T (n.*1778A>T) c.1595A>T (p.Asp532Val) c.*1319A>T (n.*1319A>T) c.2111A>T (p.Asp704Val) c.1391A>T (p.Asp464Val) c.2042A>T (p.Asp681Val) c.869A>T (p.Asp290Val) | |
11 | g.68158235T>C | CA381589830 | KMT5B | c.1898A>G (p.Asp633Gly) n.2463A>G c.*1735A>G (n.*1735A>G) c.*1778A>G (n.*1778A>G) c.1595A>G (p.Asp532Gly) c.*1319A>G (n.*1319A>G) c.2111A>G (p.Asp704Gly) c.1391A>G (p.Asp464Gly) c.2042A>G (p.Asp681Gly) c.869A>G (p.Asp290Gly) | |
11 | g.68158235T>G | CA381589831 | KMT5B | c.1898A>C (p.Asp633Ala) n.2463A>C c.*1735A>C (n.*1735A>C) c.*1778A>C (n.*1778A>C) c.1595A>C (p.Asp532Ala) c.*1319A>C (n.*1319A>C) c.2111A>C (p.Asp704Ala) c.1391A>C (p.Asp464Ala) c.2042A>C (p.Asp681Ala) c.869A>C (p.Asp290Ala) | |
11 | g.68158236C>A | CA381589832 | KMT5B | c.1897G>T (p.Asp633Tyr) n.2462G>T c.*1734G>T (n.*1734G>T) c.*1777G>T (n.*1777G>T) c.1594G>T (p.Asp532Tyr) c.*1318G>T (n.*1318G>T) c.2110G>T (p.Asp704Tyr) c.1390G>T (p.Asp464Tyr) c.2041G>T (p.Asp681Tyr) c.868G>T (p.Asp290Tyr) | |
11 | g.68158236C>G | CA381589833 | KMT5B | c.1897G>C (p.Asp633His) n.2462G>C c.*1734G>C (n.*1734G>C) c.*1777G>C (n.*1777G>C) c.1594G>C (p.Asp532His) c.*1318G>C (n.*1318G>C) c.2110G>C (p.Asp704His) c.1390G>C (p.Asp464His) c.2041G>C (p.Asp681His) c.868G>C (p.Asp290His) | |
11 | g.68158236C>T | CA381589834 | KMT5B | c.1897G>A (p.Asp633Asn) n.2462G>A c.*1734G>A (n.*1734G>A) c.*1777G>A (n.*1777G>A) c.1594G>A (p.Asp532Asn) c.*1318G>A (n.*1318G>A) c.2110G>A (p.Asp704Asn) c.1390G>A (p.Asp464Asn) c.2041G>A (p.Asp681Asn) c.868G>A (p.Asp290Asn) | |
11 | g.68158237A= | CA1980500737 | KMT5B | c.1896T= (p.Tyr632=) n.2461T= c.*1733T= (n.*1733T=) c.*1776T= (n.*1776T=) c.1593T= (p.Tyr531=) c.*1317T= (n.*1317T=) c.2109T= (p.Tyr703=) c.1389T= (p.Tyr463=) c.2040T= (p.Tyr680=) c.867T= (p.Tyr289=) | |
11 | g.68158237A>C | CA381589850 | KMT5B | c.1896T>G (p.Tyr632Ter) n.2461T>G c.*1733T>G (n.*1733T>G) c.*1776T>G (n.*1776T>G) c.1593T>G (p.Tyr531Ter) c.*1317T>G (n.*1317T>G) c.2109T>G (p.Tyr703Ter) c.1389T>G (p.Tyr463Ter) c.2040T>G (p.Tyr680Ter) c.867T>G (p.Tyr289Ter) | |
11 | g.68158237A>G | CA6148052 | KMT5B | c.1896T>C (p.Tyr632=) n.2461T>C c.*1733T>C (n.*1733T>C) c.*1776T>C (n.*1776T>C) c.1593T>C (p.Tyr531=) c.*1317T>C (n.*1317T>C) c.2109T>C (p.Tyr703=) c.1389T>C (p.Tyr463=) c.2040T>C (p.Tyr680=) c.867T>C (p.Tyr289=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
11 | g.68158237A>T | CA381589848 | KMT5B | c.1896T>A (p.Tyr632Ter) n.2461T>A c.*1733T>A (n.*1733T>A) c.*1776T>A (n.*1776T>A) c.1593T>A (p.Tyr531Ter) c.*1317T>A (n.*1317T>A) c.2109T>A (p.Tyr703Ter) c.1389T>A (p.Tyr463Ter) c.2040T>A (p.Tyr680Ter) c.867T>A (p.Tyr289Ter) | |
11 | g.68158238T>A | CA381589854 | KMT5B | c.1895A>T (p.Tyr632Phe) n.2460A>T c.*1732A>T (n.*1732A>T) c.*1775A>T (n.*1775A>T) c.1592A>T (p.Tyr531Phe) c.*1316A>T (n.*1316A>T) c.2108A>T (p.Tyr703Phe) c.1388A>T (p.Tyr463Phe) c.2039A>T (p.Tyr680Phe) c.866A>T (p.Tyr289Phe) | |
11 | g.68158238T>C | CA381589855 | KMT5B | c.1895A>G (p.Tyr632Cys) n.2460A>G c.*1732A>G (n.*1732A>G) c.*1775A>G (n.*1775A>G) c.1592A>G (p.Tyr531Cys) c.*1316A>G (n.*1316A>G) c.2108A>G (p.Tyr703Cys) c.1388A>G (p.Tyr463Cys) c.2039A>G (p.Tyr680Cys) c.866A>G (p.Tyr289Cys) | |
11 | g.68158238T>G | CA381589868 | KMT5B | c.1895A>C (p.Tyr632Ser) n.2460A>C c.*1732A>C (n.*1732A>C) c.*1775A>C (n.*1775A>C) c.1592A>C (p.Tyr531Ser) c.*1316A>C (n.*1316A>C) c.2108A>C (p.Tyr703Ser) c.1388A>C (p.Tyr463Ser) c.2039A>C (p.Tyr680Ser) c.866A>C (p.Tyr289Ser) | |
11 | g.68158239A>C | CA381589872 | KMT5B | c.1894T>G (p.Tyr632Asp) n.2459T>G c.*1731T>G (n.*1731T>G) c.*1774T>G (n.*1774T>G) c.1591T>G (p.Tyr531Asp) c.*1315T>G (n.*1315T>G) c.2107T>G (p.Tyr703Asp) c.1387T>G (p.Tyr463Asp) c.2038T>G (p.Tyr680Asp) c.865T>G (p.Tyr289Asp) | |
11 | g.68158239A>G | CA381589875 | KMT5B | c.1894T>C (p.Tyr632His) n.2459T>C c.*1731T>C (n.*1731T>C) c.*1774T>C (n.*1774T>C) c.1591T>C (p.Tyr531His) c.*1315T>C (n.*1315T>C) c.2107T>C (p.Tyr703His) c.1387T>C (p.Tyr463His) c.2038T>C (p.Tyr680His) c.865T>C (p.Tyr289His) | |
11 | g.68158239A>T | CA381589878 | KMT5B | c.1894T>A (p.Tyr632Asn) n.2459T>A c.*1731T>A (n.*1731T>A) c.*1774T>A (n.*1774T>A) c.1591T>A (p.Tyr531Asn) c.*1315T>A (n.*1315T>A) c.2107T>A (p.Tyr703Asn) c.1387T>A (p.Tyr463Asn) c.2038T>A (p.Tyr680Asn) c.865T>A (p.Tyr289Asn) | |
11 | g.68158240C>A | CA381589881 | KMT5B | c.1893G>T (p.Arg631Ser) n.2458G>T c.*1730G>T (n.*1730G>T) c.*1773G>T (n.*1773G>T) c.1590G>T (p.Arg530Ser) c.*1314G>T (n.*1314G>T) c.2106G>T (p.Arg702Ser) c.1386G>T (p.Arg462Ser) c.2037G>T (p.Arg679Ser) c.864G>T (p.Arg288Ser) | |
11 | g.68158240C>G | CA381589884 | KMT5B | c.1893G>C (p.Arg631Ser) n.2458G>C c.*1730G>C (n.*1730G>C) c.*1773G>C (n.*1773G>C) c.1590G>C (p.Arg530Ser) c.*1314G>C (n.*1314G>C) c.2106G>C (p.Arg702Ser) c.1386G>C (p.Arg462Ser) c.2037G>C (p.Arg679Ser) c.864G>C (p.Arg288Ser) | |
11 | g.68158240C>T | CA475514864 | KMT5B | c.1893G>A (p.Arg631=) n.2458G>A c.*1730G>A (n.*1730G>A) c.*1773G>A (n.*1773G>A) c.1590G>A (p.Arg530=) c.*1314G>A (n.*1314G>A) c.2106G>A (p.Arg702=) c.1386G>A (p.Arg462=) c.2037G>A (p.Arg679=) c.864G>A (p.Arg288=) | |
11 | g.68158241C>A | CA381589886 | KMT5B | c.1892G>T (p.Arg631Met) n.2457G>T c.*1729G>T (n.*1729G>T) c.*1772G>T (n.*1772G>T) c.1589G>T (p.Arg530Met) c.*1313G>T (n.*1313G>T) c.2105G>T (p.Arg702Met) c.1385G>T (p.Arg462Met) c.2036G>T (p.Arg679Met) c.863G>T (p.Arg288Met) | |
11 | g.68158241C= | CA1980500742 | KMT5B | c.1892G= (p.Arg631=) n.2457G= c.*1729G= (n.*1729G=) c.*1772G= (n.*1772G=) c.1589G= (p.Arg530=) c.*1313G= (n.*1313G=) c.2105G= (p.Arg702=) c.1385G= (p.Arg462=) c.2036G= (p.Arg679=) c.863G= (p.Arg288=) | |
11 | g.68158241C>G | CA381589888 | KMT5B | c.1892G>C (p.Arg631Thr) n.2457G>C c.*1729G>C (n.*1729G>C) c.*1772G>C (n.*1772G>C) c.1589G>C (p.Arg530Thr) c.*1313G>C (n.*1313G>C) c.2105G>C (p.Arg702Thr) c.1385G>C (p.Arg462Thr) c.2036G>C (p.Arg679Thr) c.863G>C (p.Arg288Thr) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68158241C>T | CA381589891 | KMT5B | c.1892G>A (p.Arg631Lys) n.2457G>A c.*1729G>A (n.*1729G>A) c.*1772G>A (n.*1772G>A) c.1589G>A (p.Arg530Lys) c.*1313G>A (n.*1313G>A) c.2105G>A (p.Arg702Lys) c.1385G>A (p.Arg462Lys) c.2036G>A (p.Arg679Lys) c.863G>A (p.Arg288Lys) | |
11 | g.68158242T>A | CA381589898 | KMT5B | c.1891A>T (p.Arg631Trp) n.2456A>T c.*1728A>T (n.*1728A>T) c.*1771A>T (n.*1771A>T) c.1588A>T (p.Arg530Trp) c.*1312A>T (n.*1312A>T) c.2104A>T (p.Arg702Trp) c.1384A>T (p.Arg462Trp) c.2035A>T (p.Arg679Trp) c.862A>T (p.Arg288Trp) | |
11 | g.68158242T>C | CA381589895 | KMT5B | c.1891A>G (p.Arg631Gly) n.2456A>G c.*1728A>G (n.*1728A>G) c.*1771A>G (n.*1771A>G) c.1588A>G (p.Arg530Gly) c.*1312A>G (n.*1312A>G) c.2104A>G (p.Arg702Gly) c.1384A>G (p.Arg462Gly) c.2035A>G (p.Arg679Gly) c.862A>G (p.Arg288Gly) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68158242T>G | CA475514865 | KMT5B | c.1891A>C (p.Arg631=) n.2456A>C c.*1728A>C (n.*1728A>C) c.*1771A>C (n.*1771A>C) c.1588A>C (p.Arg530=) c.*1312A>C (n.*1312A>C) c.2104A>C (p.Arg702=) c.1384A>C (p.Arg462=) c.2035A>C (p.Arg679=) c.862A>C (p.Arg288=) | |
11 | g.68158242T= | CA1980500752 | KMT5B | c.1891A= (p.Arg631=) n.2456A= c.*1728A= (n.*1728A=) c.*1771A= (n.*1771A=) c.1588A= (p.Arg530=) c.*1312A= (n.*1312A=) c.2104A= (p.Arg702=) c.1384A= (p.Arg462=) c.2035A= (p.Arg679=) c.862A= (p.Arg288=) | |
11 | g.68158243T>A | CA475514867 | KMT5B | c.1890A>T (p.Thr630=) n.2455A>T c.*1727A>T (n.*1727A>T) c.*1770A>T (n.*1770A>T) c.1587A>T (p.Thr529=) c.*1311A>T (n.*1311A>T) c.2103A>T (p.Thr701=) c.1383A>T (p.Thr461=) c.2034A>T (p.Thr678=) c.861A>T (p.Thr287=) | |
11 | g.68158243T>C | CA475514869 | KMT5B | c.1890A>G (p.Thr630=) n.2455A>G c.*1727A>G (n.*1727A>G) c.*1770A>G (n.*1770A>G) c.1587A>G (p.Thr529=) c.*1311A>G (n.*1311A>G) c.2103A>G (p.Thr701=) c.1383A>G (p.Thr461=) c.2034A>G (p.Thr678=) c.861A>G (p.Thr287=) | |
11 | g.68158243T>G | CA475514871 | KMT5B | c.1890A>C (p.Thr630=) n.2455A>C c.*1727A>C (n.*1727A>C) c.*1770A>C (n.*1770A>C) c.1587A>C (p.Thr529=) c.*1311A>C (n.*1311A>C) c.2103A>C (p.Thr701=) c.1383A>C (p.Thr461=) c.2034A>C (p.Thr678=) c.861A>C (p.Thr287=) | |
11 | g.68158244G>A | CA381589902 | KMT5B | c.1889C>T (p.Thr630Ile) n.2454C>T c.*1726C>T (n.*1726C>T) c.*1769C>T (n.*1769C>T) c.1586C>T (p.Thr529Ile) c.*1310C>T (n.*1310C>T) c.2102C>T (p.Thr701Ile) c.1382C>T (p.Thr461Ile) c.2033C>T (p.Thr678Ile) c.860C>T (p.Thr287Ile) | |
11 | g.68158244G>C | CA381589905 | KMT5B | c.1889C>G (p.Thr630Arg) n.2454C>G c.*1726C>G (n.*1726C>G) c.*1769C>G (n.*1769C>G) c.1586C>G (p.Thr529Arg) c.*1310C>G (n.*1310C>G) c.2102C>G (p.Thr701Arg) c.1382C>G (p.Thr461Arg) c.2033C>G (p.Thr678Arg) c.860C>G (p.Thr287Arg) | |
11 | g.68158244G>T | CA381589911 | KMT5B | c.1889C>A (p.Thr630Lys) n.2454C>A c.*1726C>A (n.*1726C>A) c.*1769C>A (n.*1769C>A) c.1586C>A (p.Thr529Lys) c.*1310C>A (n.*1310C>A) c.2102C>A (p.Thr701Lys) c.1382C>A (p.Thr461Lys) c.2033C>A (p.Thr678Lys) c.860C>A (p.Thr287Lys) | |
11 | g.68158245T>A | CA381589913 | KMT5B | c.1888A>T (p.Thr630Ser) n.2453A>T c.*1725A>T (n.*1725A>T) c.*1768A>T (n.*1768A>T) c.1585A>T (p.Thr529Ser) c.*1309A>T (n.*1309A>T) c.2101A>T (p.Thr701Ser) c.1381A>T (p.Thr461Ser) c.2032A>T (p.Thr678Ser) c.859A>T (p.Thr287Ser) | |
11 | g.68158245T>C | CA381589916 | KMT5B | c.1888A>G (p.Thr630Ala) n.2453A>G c.*1725A>G (n.*1725A>G) c.*1768A>G (n.*1768A>G) c.1585A>G (p.Thr529Ala) c.*1309A>G (n.*1309A>G) c.2101A>G (p.Thr701Ala) c.1381A>G (p.Thr461Ala) c.2032A>G (p.Thr678Ala) c.859A>G (p.Thr287Ala) | |
11 | g.68158245T>G | CA381589919 | KMT5B | c.1888A>C (p.Thr630Pro) n.2453A>C c.*1725A>C (n.*1725A>C) c.*1768A>C (n.*1768A>C) c.1585A>C (p.Thr529Pro) c.*1309A>C (n.*1309A>C) c.2101A>C (p.Thr701Pro) c.1381A>C (p.Thr461Pro) c.2032A>C (p.Thr678Pro) c.859A>C (p.Thr287Pro) | |
11 | g.68158246G>A | CA475514873 | KMT5B | c.1887C>T (p.Ile629=) n.2452C>T c.*1724C>T (n.*1724C>T) c.*1767C>T (n.*1767C>T) c.1584C>T (p.Ile528=) c.*1308C>T (n.*1308C>T) c.2100C>T (p.Ile700=) c.1380C>T (p.Ile460=) c.2031C>T (p.Ile677=) c.858C>T (p.Ile286=) | |
11 | g.68158246G>C | CA381589922 | KMT5B | c.1887C>G (p.Ile629Met) n.2452C>G c.*1724C>G (n.*1724C>G) c.*1767C>G (n.*1767C>G) c.1584C>G (p.Ile528Met) c.*1308C>G (n.*1308C>G) c.2100C>G (p.Ile700Met) c.1380C>G (p.Ile460Met) c.2031C>G (p.Ile677Met) c.858C>G (p.Ile286Met) | |
11 | g.68158246G>T | CA475514875 | KMT5B | c.1887C>A (p.Ile629=) n.2452C>A c.*1724C>A (n.*1724C>A) c.*1767C>A (n.*1767C>A) c.1584C>A (p.Ile528=) c.*1308C>A (n.*1308C>A) c.2100C>A (p.Ile700=) c.1380C>A (p.Ile460=) c.2031C>A (p.Ile677=) c.858C>A (p.Ile286=) | |
11 | g.68158247A>C | CA381589926 | KMT5B | c.1886T>G (p.Ile629Ser) n.2451T>G c.*1723T>G (n.*1723T>G) c.*1766T>G (n.*1766T>G) c.1583T>G (p.Ile528Ser) c.*1307T>G (n.*1307T>G) c.2099T>G (p.Ile700Ser) c.1379T>G (p.Ile460Ser) c.2030T>G (p.Ile677Ser) c.857T>G (p.Ile286Ser) | |
11 | g.68158247A>G | CA381589929 | KMT5B | c.1886T>C (p.Ile629Thr) n.2451T>C c.*1723T>C (n.*1723T>C) c.*1766T>C (n.*1766T>C) c.1583T>C (p.Ile528Thr) c.*1307T>C (n.*1307T>C) c.2099T>C (p.Ile700Thr) c.1379T>C (p.Ile460Thr) c.2030T>C (p.Ile677Thr) c.857T>C (p.Ile286Thr) | |
11 | g.68158247A>T | CA381589930 | KMT5B | c.1886T>A (p.Ile629Asn) n.2451T>A c.*1723T>A (n.*1723T>A) c.*1766T>A (n.*1766T>A) c.1583T>A (p.Ile528Asn) c.*1307T>A (n.*1307T>A) c.2099T>A (p.Ile700Asn) c.1379T>A (p.Ile460Asn) c.2030T>A (p.Ile677Asn) c.857T>A (p.Ile286Asn) | |
11 | g.68158248T>A | CA381589933 | KMT5B | c.1885A>T (p.Ile629Phe) n.2450A>T c.*1722A>T (n.*1722A>T) c.*1765A>T (n.*1765A>T) c.1582A>T (p.Ile528Phe) c.*1306A>T (n.*1306A>T) c.2098A>T (p.Ile700Phe) c.1378A>T (p.Ile460Phe) c.2029A>T (p.Ile677Phe) c.856A>T (p.Ile286Phe) | |
11 | g.68158248T>C | CA6148053 | KMT5B | c.1885A>G (p.Ile629Val) n.2450A>G c.*1722A>G (n.*1722A>G) c.*1765A>G (n.*1765A>G) c.1582A>G (p.Ile528Val) c.*1306A>G (n.*1306A>G) c.2098A>G (p.Ile700Val) c.1378A>G (p.Ile460Val) c.2029A>G (p.Ile677Val) c.856A>G (p.Ile286Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68158248T>G | CA381589938 | KMT5B | c.1885A>C (p.Ile629Leu) n.2450A>C c.*1722A>C (n.*1722A>C) c.*1765A>C (n.*1765A>C) c.1582A>C (p.Ile528Leu) c.*1306A>C (n.*1306A>C) c.2098A>C (p.Ile700Leu) c.1378A>C (p.Ile460Leu) c.2029A>C (p.Ile677Leu) c.856A>C (p.Ile286Leu) | |
11 | g.68158248T= | CA1980500757 | KMT5B | c.1885A= (p.Ile629=) n.2450A= c.*1722A= (n.*1722A=) c.*1765A= (n.*1765A=) c.1582A= (p.Ile528=) c.*1306A= (n.*1306A=) c.2098A= (p.Ile700=) c.1378A= (p.Ile460=) c.2029A= (p.Ile677=) c.856A= (p.Ile286=) | |
11 | g.68158249T>A | CA475514879 | KMT5B | c.1884A>T (p.Arg628=) n.2449A>T c.*1721A>T (n.*1721A>T) c.*1764A>T (n.*1764A>T) c.1581A>T (p.Arg527=) c.*1305A>T (n.*1305A>T) c.2097A>T (p.Arg699=) c.1377A>T (p.Arg459=) c.2028A>T (p.Arg676=) c.855A>T (p.Arg285=) | |
11 | g.68158249T>C | CA475514878 | KMT5B | c.1884A>G (p.Arg628=) n.2449A>G c.*1721A>G (n.*1721A>G) c.*1764A>G (n.*1764A>G) c.1581A>G (p.Arg527=) c.*1305A>G (n.*1305A>G) c.2097A>G (p.Arg699=) c.1377A>G (p.Arg459=) c.2028A>G (p.Arg676=) c.855A>G (p.Arg285=) | |
11 | g.68158249T>G | CA475514877 | KMT5B | c.1884A>C (p.Arg628=) n.2449A>C c.*1721A>C (n.*1721A>C) c.*1764A>C (n.*1764A>C) c.1581A>C (p.Arg527=) c.*1305A>C (n.*1305A>C) c.2097A>C (p.Arg699=) c.1377A>C (p.Arg459=) c.2028A>C (p.Arg676=) c.855A>C (p.Arg285=) | |
11 | g.68158250C>A | CA381589944 | KMT5B | c.1883G>T (p.Arg628Leu) n.2448G>T c.*1720G>T (n.*1720G>T) c.*1763G>T (n.*1763G>T) c.1580G>T (p.Arg527Leu) c.*1304G>T (n.*1304G>T) c.2096G>T (p.Arg699Leu) c.1376G>T (p.Arg459Leu) c.2027G>T (p.Arg676Leu) c.854G>T (p.Arg285Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68158250C= | CA1980500763 | KMT5B | c.1883G= (p.Arg628=) n.2448G= c.*1720G= (n.*1720G=) c.*1763G= (n.*1763G=) c.1580G= (p.Arg527=) c.*1304G= (n.*1304G=) c.2096G= (p.Arg699=) c.1376G= (p.Arg459=) c.2027G= (p.Arg676=) c.854G= (p.Arg285=) | |
11 | g.68158250C>G | CA381589941 | KMT5B | c.1883G>C (p.Arg628Pro) n.2448G>C c.*1720G>C (n.*1720G>C) c.*1763G>C (n.*1763G>C) c.1580G>C (p.Arg527Pro) c.*1304G>C (n.*1304G>C) c.2096G>C (p.Arg699Pro) c.1376G>C (p.Arg459Pro) c.2027G>C (p.Arg676Pro) c.854G>C (p.Arg285Pro) | |
11 | g.68158250C>T | CA381589943 | KMT5B | c.1883G>A (p.Arg628Gln) n.2448G>A c.*1720G>A (n.*1720G>A) c.*1763G>A (n.*1763G>A) c.1580G>A (p.Arg527Gln) c.*1304G>A (n.*1304G>A) c.2096G>A (p.Arg699Gln) c.1376G>A (p.Arg459Gln) c.2027G>A (p.Arg676Gln) c.854G>A (p.Arg285Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68158251G>A | CA381589947 | KMT5B | c.1882C>T (p.Arg628Ter) n.2447C>T c.*1719C>T (n.*1719C>T) c.*1762C>T (n.*1762C>T) c.1579C>T (p.Arg527Ter) c.*1303C>T (n.*1303C>T) c.2095C>T (p.Arg699Ter) c.1375C>T (p.Arg459Ter) c.2026C>T (p.Arg676Ter) c.853C>T (p.Arg285Ter) | ClinVar COSMIC COSMIC |
11 | g.68158251G>C | CA381589948 | KMT5B | c.1882C>G (p.Arg628Gly) n.2447C>G c.*1719C>G (n.*1719C>G) c.*1762C>G (n.*1762C>G) c.1579C>G (p.Arg527Gly) c.*1303C>G (n.*1303C>G) c.2095C>G (p.Arg699Gly) c.1375C>G (p.Arg459Gly) c.2026C>G (p.Arg676Gly) c.853C>G (p.Arg285Gly) | |
11 | g.68158251G>T | CA475514880 | KMT5B | c.1882C>A (p.Arg628=) n.2447C>A c.*1719C>A (n.*1719C>A) c.*1762C>A (n.*1762C>A) c.1579C>A (p.Arg527=) c.*1303C>A (n.*1303C>A) c.2095C>A (p.Arg699=) c.1375C>A (p.Arg459=) c.2026C>A (p.Arg676=) c.853C>A (p.Arg285=) | |
11 | g.68158252C>A | CA381589956 | KMT5B | c.1881G>T (p.Arg627Ser) n.2446G>T c.*1718G>T (n.*1718G>T) c.*1761G>T (n.*1761G>T) c.1578G>T (p.Arg526Ser) c.*1302G>T (n.*1302G>T) c.2094G>T (p.Arg698Ser) c.1374G>T (p.Arg458Ser) c.2025G>T (p.Arg675Ser) c.852G>T (p.Arg284Ser) | |
11 | g.68158252C= | CA1980500768 | KMT5B | c.1881G= (p.Arg627=) n.2446G= c.*1718G= (n.*1718G=) c.*1761G= (n.*1761G=) c.1578G= (p.Arg526=) c.*1302G= (n.*1302G=) c.2094G= (p.Arg698=) c.1374G= (p.Arg458=) c.2025G= (p.Arg675=) c.852G= (p.Arg284=) | |
11 | g.68158252C>G | CA381589958 | KMT5B | c.1881G>C (p.Arg627Ser) n.2446G>C c.*1718G>C (n.*1718G>C) c.*1761G>C (n.*1761G>C) c.1578G>C (p.Arg526Ser) c.*1302G>C (n.*1302G>C) c.2094G>C (p.Arg698Ser) c.1374G>C (p.Arg458Ser) c.2025G>C (p.Arg675Ser) c.852G>C (p.Arg284Ser) | |
11 | g.68158252C>T | CA6148054 | KMT5B | c.1881G>A (p.Arg627=) n.2446G>A c.*1718G>A (n.*1718G>A) c.*1761G>A (n.*1761G>A) c.1578G>A (p.Arg526=) c.*1302G>A (n.*1302G>A) c.2094G>A (p.Arg698=) c.1374G>A (p.Arg458=) c.2025G>A (p.Arg675=) c.852G>A (p.Arg284=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68158253_68158255del | CA645596788 | KMT5B | c.1879_1881del (p.Arg627del) n.2444_2446del c.*1716_*1718del (n.*1716_*1718del) c.*1759_*1761del (n.*1759_*1761del) c.1576_1578del (p.Arg526del) c.*1300_*1302del (n.*1300_*1302del) c.2092_2094del (p.Arg698del) c.1372_1374del (p.Arg458del) c.2023_2025del (p.Arg675del) c.850_852del (p.Arg284del) | COSMIC |
11 | g.68158253C>A | CA381589964 | KMT5B | c.1880G>T (p.Arg627Met) n.2445G>T c.*1717G>T (n.*1717G>T) c.*1760G>T (n.*1760G>T) c.1577G>T (p.Arg526Met) c.*1301G>T (n.*1301G>T) c.2093G>T (p.Arg698Met) c.1373G>T (p.Arg458Met) c.2024G>T (p.Arg675Met) c.851G>T (p.Arg284Met) | |
11 | g.68158253C>G | CA381589968 | KMT5B | c.1880G>C (p.Arg627Thr) n.2445G>C c.*1717G>C (n.*1717G>C) c.*1760G>C (n.*1760G>C) c.1577G>C (p.Arg526Thr) c.*1301G>C (n.*1301G>C) c.2093G>C (p.Arg698Thr) c.1373G>C (p.Arg458Thr) c.2024G>C (p.Arg675Thr) c.851G>C (p.Arg284Thr) | |
11 | g.68158253C>T | CA381589971 | KMT5B | c.1880G>A (p.Arg627Lys) n.2445G>A c.*1717G>A (n.*1717G>A) c.*1760G>A (n.*1760G>A) c.1577G>A (p.Arg526Lys) c.*1301G>A (n.*1301G>A) c.2093G>A (p.Arg698Lys) c.1373G>A (p.Arg458Lys) c.2024G>A (p.Arg675Lys) c.851G>A (p.Arg284Lys) | |
11 | g.68158253_68158256delinsCTCT | CA1980500775 | KMT5B | c.1877_1880delinsAGAG (p.Lys626=) n.2442_2445delinsAGAG c.*1714_*1717delinsAGAG (n.*1714_*1717delinsAGAG) c.*1757_*1760delinsAGAG (n.*1757_*1760delinsAGAG) c.1574_1577delinsAGAG (p.Lys525=) c.*1298_*1301delinsAGAG (n.*1298_*1301delinsAGAG) c.2090_2093delinsAGAG (p.Lys697=) c.1370_1373delinsAGAG (p.Lys457=) c.2021_2024delinsAGAG (p.Lys674=) c.848_851delinsAGAG (p.Lys283=) | |
11 | g.68158254T>A | CA381589976 | KMT5B | c.1879A>T (p.Arg627Trp) n.2444A>T c.*1716A>T (n.*1716A>T) c.*1759A>T (n.*1759A>T) c.1576A>T (p.Arg526Trp) c.*1300A>T (n.*1300A>T) c.2092A>T (p.Arg698Trp) c.1372A>T (p.Arg458Trp) c.2023A>T (p.Arg675Trp) c.850A>T (p.Arg284Trp) | |
11 | g.68158254T>C | CA381589980 | KMT5B | c.1879A>G (p.Arg627Gly) n.2444A>G c.*1716A>G (n.*1716A>G) c.*1759A>G (n.*1759A>G) c.1576A>G (p.Arg526Gly) c.*1300A>G (n.*1300A>G) c.2092A>G (p.Arg698Gly) c.1372A>G (p.Arg458Gly) c.2023A>G (p.Arg675Gly) c.850A>G (p.Arg284Gly) | |
11 | g.68158254T>G | CA475514882 | KMT5B | c.1879A>C (p.Arg627=) n.2444A>C c.*1716A>C (n.*1716A>C) c.*1759A>C (n.*1759A>C) c.1576A>C (p.Arg526=) c.*1300A>C (n.*1300A>C) c.2092A>C (p.Arg698=) c.1372A>C (p.Arg458=) c.2023A>C (p.Arg675=) c.850A>C (p.Arg284=) | |
11 | g.68158258_68158260del | CA6148055 | KMT5B | c.1877_1879del (p.Lys626del) n.2442_2444del c.*1714_*1716del (n.*1714_*1716del) c.*1757_*1759del (n.*1757_*1759del) c.1574_1576del (p.Lys525del) c.*1298_*1300del (n.*1298_*1300del) c.2090_2092del (p.Lys697del) c.1370_1372del (p.Lys457del) c.2021_2023del (p.Lys674del) c.848_850del (p.Lys283del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
11 | g.68158255C>A | CA381589986 | KMT5B | c.1878G>T (p.Lys626Asn) n.2443G>T c.*1715G>T (n.*1715G>T) c.*1758G>T (n.*1758G>T) c.1575G>T (p.Lys525Asn) c.*1299G>T (n.*1299G>T) c.2091G>T (p.Lys697Asn) c.1371G>T (p.Lys457Asn) c.2022G>T (p.Lys674Asn) c.849G>T (p.Lys283Asn) | |
11 | g.68158255C= | CA1980500784 | KMT5B | c.1878G= (p.Lys626=) n.2443G= c.*1715G= (n.*1715G=) c.*1758G= (n.*1758G=) c.1575G= (p.Lys525=) c.*1299G= (n.*1299G=) c.2091G= (p.Lys697=) c.1371G= (p.Lys457=) c.2022G= (p.Lys674=) c.849G= (p.Lys283=) | |
11 | g.68158255C>G | CA381589990 | KMT5B | c.1878G>C (p.Lys626Asn) n.2443G>C c.*1715G>C (n.*1715G>C) c.*1758G>C (n.*1758G>C) c.1575G>C (p.Lys525Asn) c.*1299G>C (n.*1299G>C) c.2091G>C (p.Lys697Asn) c.1371G>C (p.Lys457Asn) c.2022G>C (p.Lys674Asn) c.849G>C (p.Lys283Asn) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68158255C>T | CA475514884 | KMT5B | c.1878G>A (p.Lys626=) n.2443G>A c.*1715G>A (n.*1715G>A) c.*1758G>A (n.*1758G>A) c.1575G>A (p.Lys525=) c.*1299G>A (n.*1299G>A) c.2091G>A (p.Lys697=) c.1371G>A (p.Lys457=) c.2022G>A (p.Lys674=) c.849G>A (p.Lys283=) | |
11 | g.68158256T>A | CA381589996 | KMT5B | c.1877A>T (p.Lys626Met) n.2442A>T c.*1714A>T (n.*1714A>T) c.*1757A>T (n.*1757A>T) c.1574A>T (p.Lys525Met) c.*1298A>T (n.*1298A>T) c.2090A>T (p.Lys697Met) c.1370A>T (p.Lys457Met) c.2021A>T (p.Lys674Met) c.848A>T (p.Lys283Met) | |
11 | g.68158256T>C | CA381590004 | KMT5B | c.1877A>G (p.Lys626Arg) n.2442A>G c.*1714A>G (n.*1714A>G) c.*1757A>G (n.*1757A>G) c.1574A>G (p.Lys525Arg) c.*1298A>G (n.*1298A>G) c.2090A>G (p.Lys697Arg) c.1370A>G (p.Lys457Arg) c.2021A>G (p.Lys674Arg) c.848A>G (p.Lys283Arg) | |
11 | g.68158256T>G | CA381589993 | KMT5B | c.1877A>C (p.Lys626Thr) n.2442A>C c.*1714A>C (n.*1714A>C) c.*1757A>C (n.*1757A>C) c.1574A>C (p.Lys525Thr) c.*1298A>C (n.*1298A>C) c.2090A>C (p.Lys697Thr) c.1370A>C (p.Lys457Thr) c.2021A>C (p.Lys674Thr) c.848A>C (p.Lys283Thr) | |
11 | g.68158257T>A | CA381590013 | KMT5B | c.1876A>T (p.Lys626Ter) n.2441A>T c.*1713A>T (n.*1713A>T) c.*1756A>T (n.*1756A>T) c.1573A>T (p.Lys525Ter) c.*1297A>T (n.*1297A>T) c.2089A>T (p.Lys697Ter) c.1369A>T (p.Lys457Ter) c.2020A>T (p.Lys674Ter) c.847A>T (p.Lys283Ter) | |
11 | g.68158257T>C | CA381590006 | KMT5B | c.1876A>G (p.Lys626Glu) n.2441A>G c.*1713A>G (n.*1713A>G) c.*1756A>G (n.*1756A>G) c.1573A>G (p.Lys525Glu) c.*1297A>G (n.*1297A>G) c.2089A>G (p.Lys697Glu) c.1369A>G (p.Lys457Glu) c.2020A>G (p.Lys674Glu) c.847A>G (p.Lys283Glu) | |
11 | g.68158257T>G | CA381590010 | KMT5B | c.1876A>C (p.Lys626Gln) n.2441A>C c.*1713A>C (n.*1713A>C) c.*1756A>C (n.*1756A>C) c.1573A>C (p.Lys525Gln) c.*1297A>C (n.*1297A>C) c.2089A>C (p.Lys697Gln) c.1369A>C (p.Lys457Gln) c.2020A>C (p.Lys674Gln) c.847A>C (p.Lys283Gln) | |
11 | g.68158258C>A | CA381590015 | KMT5B | c.1875G>T (p.Lys625Asn) n.2440G>T c.*1712G>T (n.*1712G>T) c.*1755G>T (n.*1755G>T) c.1572G>T (p.Lys524Asn) c.*1296G>T (n.*1296G>T) c.2088G>T (p.Lys696Asn) c.1368G>T (p.Lys456Asn) c.2019G>T (p.Lys673Asn) c.846G>T (p.Lys282Asn) | |
11 | g.68158258C= | CA1980500787 | KMT5B | c.1875G= (p.Lys625=) n.2440G= c.*1712G= (n.*1712G=) c.*1755G= (n.*1755G=) c.1572G= (p.Lys524=) c.*1296G= (n.*1296G=) c.2088G= (p.Lys696=) c.1368G= (p.Lys456=) c.2019G= (p.Lys673=) c.846G= (p.Lys282=) | |
11 | g.68158258C>G | CA381590019 | KMT5B | c.1875G>C (p.Lys625Asn) n.2440G>C c.*1712G>C (n.*1712G>C) c.*1755G>C (n.*1755G>C) c.1572G>C (p.Lys524Asn) c.*1296G>C (n.*1296G>C) c.2088G>C (p.Lys696Asn) c.1368G>C (p.Lys456Asn) c.2019G>C (p.Lys673Asn) c.846G>C (p.Lys282Asn) | |
11 | g.68158258C>T | CA6148056 | KMT5B | c.1875G>A (p.Lys625=) n.2440G>A c.*1712G>A (n.*1712G>A) c.*1755G>A (n.*1755G>A) c.1572G>A (p.Lys524=) c.*1296G>A (n.*1296G>A) c.2088G>A (p.Lys696=) c.1368G>A (p.Lys456=) c.2019G>A (p.Lys673=) c.846G>A (p.Lys282=) | dbSNP ExAC |
11 | g.68158258_68158261delinsCTTT | CA1980500792 | KMT5B | c.1872_1875delinsAAAG (p.Lys624=) n.2437_2440delinsAAAG c.*1709_*1712delinsAAAG (n.*1709_*1712delinsAAAG) c.*1752_*1755delinsAAAG (n.*1752_*1755delinsAAAG) c.1569_1572delinsAAAG (p.Lys523=) c.*1293_*1296delinsAAAG (n.*1293_*1296delinsAAAG) c.2085_2088delinsAAAG (p.Lys695=) c.1365_1368delinsAAAG (p.Lys455=) c.2016_2019delinsAAAG (p.Lys672=) c.843_846delinsAAAG (p.Lys281=) | |
11 | g.68158259T>A | CA381590023 | KMT5B | c.1874A>T (p.Lys625Met) n.2439A>T c.*1711A>T (n.*1711A>T) c.*1754A>T (n.*1754A>T) c.1571A>T (p.Lys524Met) c.*1295A>T (n.*1295A>T) c.2087A>T (p.Lys696Met) c.1367A>T (p.Lys456Met) c.2018A>T (p.Lys673Met) c.845A>T (p.Lys282Met) | |
11 | g.68158259T>C | CA381590026 | KMT5B | c.1874A>G (p.Lys625Arg) n.2439A>G c.*1711A>G (n.*1711A>G) c.*1754A>G (n.*1754A>G) c.1571A>G (p.Lys524Arg) c.*1295A>G (n.*1295A>G) c.2087A>G (p.Lys696Arg) c.1367A>G (p.Lys456Arg) c.2018A>G (p.Lys673Arg) c.845A>G (p.Lys282Arg) | gnomAD v4 |
11 | g.68158259T>G | CA381590034 | KMT5B | c.1874A>C (p.Lys625Thr) n.2439A>C c.*1711A>C (n.*1711A>C) c.*1754A>C (n.*1754A>C) c.1571A>C (p.Lys524Thr) c.*1295A>C (n.*1295A>C) c.2087A>C (p.Lys696Thr) c.1367A>C (p.Lys456Thr) c.2018A>C (p.Lys673Thr) c.845A>C (p.Lys282Thr) | |
11 | g.68158263del | CA2574900139 | KMT5B | c.1874del (p.Lys625ArgfsTer12) n.2439del c.*1711del (n.*1711del) c.*1754del (n.*1754del) c.1571del (p.Lys524ArgfsTer12) c.*1295del (n.*1295del) c.2087del (p.Lys696ArgfsTer12) c.1367del (p.Lys456ArgfsTer12) c.2018del (p.Lys673ArgfsTer12) c.845del (p.Lys282ArgfsTer12) | |
11 | g.68158261_68158263del | CA679570362 | KMT5B | c.1872_1874del (p.Lys625del) n.2437_2439del c.*1709_*1711del (n.*1709_*1711del) c.*1752_*1754del (n.*1752_*1754del) c.1569_1571del (p.Lys524del) c.*1293_*1295del (n.*1293_*1295del) c.2085_2087del (p.Lys696del) c.1365_1367del (p.Lys456del) c.2016_2018del (p.Lys673del) c.843_845del (p.Lys282del) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68158259_68158260insA | CA475514887 | KMT5B | c.1873_1874insT (p.Lys625IlefsTer9) n.2438_2439insT c.*1710_*1711insT (n.*1710_*1711insT) c.*1753_*1754insT (n.*1753_*1754insT) c.1570_1571insT (p.Lys524IlefsTer9) c.*1294_*1295insT (n.*1294_*1295insT) c.2086_2087insT (p.Lys696IlefsTer9) c.1366_1367insT (p.Lys456IlefsTer9) c.2017_2018insT (p.Lys673IlefsTer9) c.844_845insT (p.Lys282IlefsTer9) | |
11 | g.68158260T>A | CA381590037 | KMT5B | c.1873A>T (p.Lys625Ter) n.2438A>T c.*1710A>T (n.*1710A>T) c.*1753A>T (n.*1753A>T) c.1570A>T (p.Lys524Ter) c.*1294A>T (n.*1294A>T) c.2086A>T (p.Lys696Ter) c.1366A>T (p.Lys456Ter) c.2017A>T (p.Lys673Ter) c.844A>T (p.Lys282Ter) | |
11 | g.68158260T>C | CA381590041 | KMT5B | c.1873A>G (p.Lys625Glu) n.2438A>G c.*1710A>G (n.*1710A>G) c.*1753A>G (n.*1753A>G) c.1570A>G (p.Lys524Glu) c.*1294A>G (n.*1294A>G) c.2086A>G (p.Lys696Glu) c.1366A>G (p.Lys456Glu) c.2017A>G (p.Lys673Glu) c.844A>G (p.Lys282Glu) | |
11 | g.68158260T>G | CA381590044 | KMT5B | c.1873A>C (p.Lys625Gln) n.2438A>C c.*1710A>C (n.*1710A>C) c.*1753A>C (n.*1753A>C) c.1570A>C (p.Lys524Gln) c.*1294A>C (n.*1294A>C) c.2086A>C (p.Lys696Gln) c.1366A>C (p.Lys456Gln) c.2017A>C (p.Lys673Gln) c.844A>C (p.Lys282Gln) | |
11 | g.68158261T>A | CA381590046 | KMT5B | c.1872A>T (p.Lys624Asn) n.2437A>T c.*1709A>T (n.*1709A>T) c.*1752A>T (n.*1752A>T) c.1569A>T (p.Lys523Asn) c.*1293A>T (n.*1293A>T) c.2085A>T (p.Lys695Asn) c.1365A>T (p.Lys455Asn) c.2016A>T (p.Lys672Asn) c.843A>T (p.Lys281Asn) | |
11 | g.68158261T>C | CA475514888 | KMT5B | c.1872A>G (p.Lys624=) n.2437A>G c.*1709A>G (n.*1709A>G) c.*1752A>G (n.*1752A>G) c.1569A>G (p.Lys523=) c.*1293A>G (n.*1293A>G) c.2085A>G (p.Lys695=) c.1365A>G (p.Lys455=) c.2016A>G (p.Lys672=) c.843A>G (p.Lys281=) | |
11 | g.68158261T>G | CA381590049 | KMT5B | c.1872A>C (p.Lys624Asn) n.2437A>C c.*1709A>C (n.*1709A>C) c.*1752A>C (n.*1752A>C) c.1569A>C (p.Lys523Asn) c.*1293A>C (n.*1293A>C) c.2085A>C (p.Lys695Asn) c.1365A>C (p.Lys455Asn) c.2016A>C (p.Lys672Asn) c.843A>C (p.Lys281Asn) | |
11 | g.68158262T>A | CA381590059 | KMT5B | c.1871A>T (p.Lys624Ile) n.2436A>T c.*1708A>T (n.*1708A>T) c.*1751A>T (n.*1751A>T) c.1568A>T (p.Lys523Ile) c.*1292A>T (n.*1292A>T) c.2084A>T (p.Lys695Ile) c.1364A>T (p.Lys455Ile) c.2015A>T (p.Lys672Ile) c.842A>T (p.Lys281Ile) | |
11 | g.68158262T>C | CA381590056 | KMT5B | c.1871A>G (p.Lys624Arg) n.2436A>G c.*1708A>G (n.*1708A>G) c.*1751A>G (n.*1751A>G) c.1568A>G (p.Lys523Arg) c.*1292A>G (n.*1292A>G) c.2084A>G (p.Lys695Arg) c.1364A>G (p.Lys455Arg) c.2015A>G (p.Lys672Arg) c.842A>G (p.Lys281Arg) | gnomAD v4 |
11 | g.68158262T>G | CA381590053 | KMT5B | c.1871A>C (p.Lys624Thr) n.2436A>C c.*1708A>C (n.*1708A>C) c.*1751A>C (n.*1751A>C) c.1568A>C (p.Lys523Thr) c.*1292A>C (n.*1292A>C) c.2084A>C (p.Lys695Thr) c.1364A>C (p.Lys455Thr) c.2015A>C (p.Lys672Thr) c.842A>C (p.Lys281Thr) | |
11 | g.68158263T>A | CA381590062 | KMT5B | c.1870A>T (p.Lys624Ter) n.2435A>T c.*1707A>T (n.*1707A>T) c.*1750A>T (n.*1750A>T) c.1567A>T (p.Lys523Ter) c.*1291A>T (n.*1291A>T) c.2083A>T (p.Lys695Ter) c.1363A>T (p.Lys455Ter) c.2014A>T (p.Lys672Ter) c.841A>T (p.Lys281Ter) | |
11 | g.68158263T>C | CA6148057 | KMT5B | c.1870A>G (p.Lys624Glu) n.2435A>G c.*1707A>G (n.*1707A>G) c.*1750A>G (n.*1750A>G) c.1567A>G (p.Lys523Glu) c.*1291A>G (n.*1291A>G) c.2083A>G (p.Lys695Glu) c.1363A>G (p.Lys455Glu) c.2014A>G (p.Lys672Glu) c.841A>G (p.Lys281Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68158263T>G | CA381590069 | KMT5B | c.1870A>C (p.Lys624Gln) n.2435A>C c.*1707A>C (n.*1707A>C) c.*1750A>C (n.*1750A>C) c.1567A>C (p.Lys523Gln) c.*1291A>C (n.*1291A>C) c.2083A>C (p.Lys695Gln) c.1363A>C (p.Lys455Gln) c.2014A>C (p.Lys672Gln) c.841A>C (p.Lys281Gln) | |
11 | g.68158263T= | CA1980500799 | KMT5B | c.1870A= (p.Lys624=) n.2435A= c.*1707A= (n.*1707A=) c.*1750A= (n.*1750A=) c.1567A= (p.Lys523=) c.*1291A= (n.*1291A=) c.2083A= (p.Lys695=) c.1363A= (p.Lys455=) c.2014A= (p.Lys672=) c.841A= (p.Lys281=) | |
11 | g.68158264A>C | CA381590075 | KMT5B | c.1869T>G (p.Ser623Arg) n.2434T>G c.*1706T>G (n.*1706T>G) c.*1749T>G (n.*1749T>G) c.1566T>G (p.Ser522Arg) c.*1290T>G (n.*1290T>G) c.2082T>G (p.Ser694Arg) c.1362T>G (p.Ser454Arg) c.2013T>G (p.Ser671Arg) c.840T>G (p.Ser280Arg) | gnomAD v4 |
11 | g.68158264A>G | CA475514893 | KMT5B | c.1869T>C (p.Ser623=) n.2434T>C c.*1706T>C (n.*1706T>C) c.*1749T>C (n.*1749T>C) c.1566T>C (p.Ser522=) c.*1290T>C (n.*1290T>C) c.2082T>C (p.Ser694=) c.1362T>C (p.Ser454=) c.2013T>C (p.Ser671=) c.840T>C (p.Ser280=) | |
11 | g.68158264A>T | CA381590078 | KMT5B | c.1869T>A (p.Ser623Arg) n.2434T>A c.*1706T>A (n.*1706T>A) c.*1749T>A (n.*1749T>A) c.1566T>A (p.Ser522Arg) c.*1290T>A (n.*1290T>A) c.2082T>A (p.Ser694Arg) c.1362T>A (p.Ser454Arg) c.2013T>A (p.Ser671Arg) c.840T>A (p.Ser280Arg) | |
11 | g.68158265C>A | CA381590081 | KMT5B | c.1868G>T (p.Ser623Ile) n.2433G>T c.*1705G>T (n.*1705G>T) c.*1748G>T (n.*1748G>T) c.1565G>T (p.Ser522Ile) c.*1289G>T (n.*1289G>T) c.2081G>T (p.Ser694Ile) c.1361G>T (p.Ser454Ile) c.2012G>T (p.Ser671Ile) c.839G>T (p.Ser280Ile) | |
11 | g.68158265C= | CA1980500802 | KMT5B | c.1868G= (p.Ser623=) n.2433G= c.*1705G= (n.*1705G=) c.*1748G= (n.*1748G=) c.1565G= (p.Ser522=) c.*1289G= (n.*1289G=) c.2081G= (p.Ser694=) c.1361G= (p.Ser454=) c.2012G= (p.Ser671=) c.839G= (p.Ser280=) | |
11 | g.68158265C>G | CA381590087 | KMT5B | c.1868G>C (p.Ser623Thr) n.2433G>C c.*1705G>C (n.*1705G>C) c.*1748G>C (n.*1748G>C) c.1565G>C (p.Ser522Thr) c.*1289G>C (n.*1289G>C) c.2081G>C (p.Ser694Thr) c.1361G>C (p.Ser454Thr) c.2012G>C (p.Ser671Thr) c.839G>C (p.Ser280Thr) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68158265C>T | CA6148058 | KMT5B | c.1868G>A (p.Ser623Asn) n.2433G>A c.*1705G>A (n.*1705G>A) c.*1748G>A (n.*1748G>A) c.1565G>A (p.Ser522Asn) c.*1289G>A (n.*1289G>A) c.2081G>A (p.Ser694Asn) c.1361G>A (p.Ser454Asn) c.2012G>A (p.Ser671Asn) c.839G>A (p.Ser280Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68158266T>A | CA381590094 | KMT5B | c.1867A>T (p.Ser623Cys) n.2432A>T c.*1704A>T (n.*1704A>T) c.*1747A>T (n.*1747A>T) c.1564A>T (p.Ser522Cys) c.*1288A>T (n.*1288A>T) c.2080A>T (p.Ser694Cys) c.1360A>T (p.Ser454Cys) c.2011A>T (p.Ser671Cys) c.838A>T (p.Ser280Cys) | |
11 | g.68158266T>C | CA381590097 | KMT5B | c.1867A>G (p.Ser623Gly) n.2432A>G c.*1704A>G (n.*1704A>G) c.*1747A>G (n.*1747A>G) c.1564A>G (p.Ser522Gly) c.*1288A>G (n.*1288A>G) c.2080A>G (p.Ser694Gly) c.1360A>G (p.Ser454Gly) c.2011A>G (p.Ser671Gly) c.838A>G (p.Ser280Gly) | |
11 | g.68158266T>G | CA381590098 | KMT5B | c.1867A>C (p.Ser623Arg) n.2432A>C c.*1704A>C (n.*1704A>C) c.*1747A>C (n.*1747A>C) c.1564A>C (p.Ser522Arg) c.*1288A>C (n.*1288A>C) c.2080A>C (p.Ser694Arg) c.1360A>C (p.Ser454Arg) c.2011A>C (p.Ser671Arg) c.838A>C (p.Ser280Arg) | |
11 | g.68158267T>A | CA381590101 | KMT5B | c.1866A>T (p.Lys622Asn) n.2431A>T c.*1703A>T (n.*1703A>T) c.*1746A>T (n.*1746A>T) c.1563A>T (p.Lys521Asn) c.*1287A>T (n.*1287A>T) c.2079A>T (p.Lys693Asn) c.1359A>T (p.Lys453Asn) c.2010A>T (p.Lys670Asn) c.837A>T (p.Lys279Asn) | |
11 | g.68158267T>C | CA224248432 | KMT5B | c.1866A>G (p.Lys622=) n.2431A>G c.*1703A>G (n.*1703A>G) c.*1746A>G (n.*1746A>G) c.1563A>G (p.Lys521=) c.*1287A>G (n.*1287A>G) c.2079A>G (p.Lys693=) c.1359A>G (p.Lys453=) c.2010A>G (p.Lys670=) c.837A>G (p.Lys279=) | dbSNP gnomAD v4 |
11 | g.68158267T>G | CA6148059 | KMT5B | c.1866A>C (p.Lys622Asn) n.2431A>C c.*1703A>C (n.*1703A>C) c.*1746A>C (n.*1746A>C) c.1563A>C (p.Lys521Asn) c.*1287A>C (n.*1287A>C) c.2079A>C (p.Lys693Asn) c.1359A>C (p.Lys453Asn) c.2010A>C (p.Lys670Asn) c.837A>C (p.Lys279Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68158267T= | CA1980500807 | KMT5B | c.1866A= (p.Lys622=) n.2431A= c.*1703A= (n.*1703A=) c.*1746A= (n.*1746A=) c.1563A= (p.Lys521=) c.*1287A= (n.*1287A=) c.2079A= (p.Lys693=) c.1359A= (p.Lys453=) c.2010A= (p.Lys670=) c.837A= (p.Lys279=) | |
11 | g.68158268T>A | CA381590122 | KMT5B | c.1865A>T (p.Lys622Ile) n.2430A>T c.*1702A>T (n.*1702A>T) c.*1745A>T (n.*1745A>T) c.1562A>T (p.Lys521Ile) c.*1286A>T (n.*1286A>T) c.2078A>T (p.Lys693Ile) c.1358A>T (p.Lys453Ile) c.2009A>T (p.Lys670Ile) c.836A>T (p.Lys279Ile) | |
11 | g.68158268T>C | CA381590125 | KMT5B | c.1865A>G (p.Lys622Arg) n.2430A>G c.*1702A>G (n.*1702A>G) c.*1745A>G (n.*1745A>G) c.1562A>G (p.Lys521Arg) c.*1286A>G (n.*1286A>G) c.2078A>G (p.Lys693Arg) c.1358A>G (p.Lys453Arg) c.2009A>G (p.Lys670Arg) c.836A>G (p.Lys279Arg) | gnomAD v4 |
11 | g.68158268T>G | CA381590121 | KMT5B | c.1865A>C (p.Lys622Thr) n.2430A>C c.*1702A>C (n.*1702A>C) c.*1745A>C (n.*1745A>C) c.1562A>C (p.Lys521Thr) c.*1286A>C (n.*1286A>C) c.2078A>C (p.Lys693Thr) c.1358A>C (p.Lys453Thr) c.2009A>C (p.Lys670Thr) c.836A>C (p.Lys279Thr) | |
11 | g.68158269T>A | CA381590130 | KMT5B | c.1864A>T (p.Lys622Ter) n.2429A>T c.*1701A>T (n.*1701A>T) c.*1744A>T (n.*1744A>T) c.1561A>T (p.Lys521Ter) c.*1285A>T (n.*1285A>T) c.2077A>T (p.Lys693Ter) c.1357A>T (p.Lys453Ter) c.2008A>T (p.Lys670Ter) c.835A>T (p.Lys279Ter) | |
11 | g.68158269T>C | CA381590131 | KMT5B | c.1864A>G (p.Lys622Glu) n.2429A>G c.*1701A>G (n.*1701A>G) c.*1744A>G (n.*1744A>G) c.1561A>G (p.Lys521Glu) c.*1285A>G (n.*1285A>G) c.2077A>G (p.Lys693Glu) c.1357A>G (p.Lys453Glu) c.2008A>G (p.Lys670Glu) c.835A>G (p.Lys279Glu) | gnomAD v4 |
11 | g.68158269T>G | CA381590132 | KMT5B | c.1864A>C (p.Lys622Gln) n.2429A>C c.*1701A>C (n.*1701A>C) c.*1744A>C (n.*1744A>C) c.1561A>C (p.Lys521Gln) c.*1285A>C (n.*1285A>C) c.2077A>C (p.Lys693Gln) c.1357A>C (p.Lys453Gln) c.2008A>C (p.Lys670Gln) c.835A>C (p.Lys279Gln) | |
11 | g.68158270T>A | CA475514905 | KMT5B | c.1863A>T (p.Ala621=) n.2428A>T c.*1700A>T (n.*1700A>T) c.*1743A>T (n.*1743A>T) c.1560A>T (p.Ala520=) c.*1284A>T (n.*1284A>T) c.2076A>T (p.Ala692=) c.1356A>T (p.Ala452=) c.2007A>T (p.Ala669=) c.834A>T (p.Ala278=) | |
11 | g.68158270T>C | CA475514906 | KMT5B | c.1863A>G (p.Ala621=) n.2428A>G c.*1700A>G (n.*1700A>G) c.*1743A>G (n.*1743A>G) c.1560A>G (p.Ala520=) c.*1284A>G (n.*1284A>G) c.2076A>G (p.Ala692=) c.1356A>G (p.Ala452=) c.2007A>G (p.Ala669=) c.834A>G (p.Ala278=) | |
11 | g.68158270T>G | CA475514907 | KMT5B | c.1863A>C (p.Ala621=) n.2428A>C c.*1700A>C (n.*1700A>C) c.*1743A>C (n.*1743A>C) c.1560A>C (p.Ala520=) c.*1284A>C (n.*1284A>C) c.2076A>C (p.Ala692=) c.1356A>C (p.Ala452=) c.2007A>C (p.Ala669=) c.834A>C (p.Ala278=) | gnomAD v4 |
11 | g.68158271G>A | CA381590133 | KMT5B | c.1862C>T (p.Ala621Val) n.2427C>T c.*1699C>T (n.*1699C>T) c.*1742C>T (n.*1742C>T) c.1559C>T (p.Ala520Val) c.*1283C>T (n.*1283C>T) c.2075C>T (p.Ala692Val) c.1355C>T (p.Ala452Val) c.2006C>T (p.Ala669Val) c.833C>T (p.Ala278Val) | |
11 | g.68158271G>C | CA381590134 | KMT5B | c.1862C>G (p.Ala621Gly) n.2427C>G c.*1699C>G (n.*1699C>G) c.*1742C>G (n.*1742C>G) c.1559C>G (p.Ala520Gly) c.*1283C>G (n.*1283C>G) c.2075C>G (p.Ala692Gly) c.1355C>G (p.Ala452Gly) c.2006C>G (p.Ala669Gly) c.833C>G (p.Ala278Gly) | |
11 | g.68158271G>T | CA381590135 | KMT5B | c.1862C>A (p.Ala621Glu) n.2427C>A c.*1699C>A (n.*1699C>A) c.*1742C>A (n.*1742C>A) c.1559C>A (p.Ala520Glu) c.*1283C>A (n.*1283C>A) c.2075C>A (p.Ala692Glu) c.1355C>A (p.Ala452Glu) c.2006C>A (p.Ala669Glu) c.833C>A (p.Ala278Glu) | |
11 | g.68158272C>A | CA381590137 | KMT5B | c.1861G>T (p.Ala621Ser) n.2426G>T c.*1698G>T (n.*1698G>T) c.*1741G>T (n.*1741G>T) c.1558G>T (p.Ala520Ser) c.*1282G>T (n.*1282G>T) c.2074G>T (p.Ala692Ser) c.1354G>T (p.Ala452Ser) c.2005G>T (p.Ala669Ser) c.832G>T (p.Ala278Ser) | |
11 | g.68158272C>G | CA381590140 | KMT5B | c.1861G>C (p.Ala621Pro) n.2426G>C c.*1698G>C (n.*1698G>C) c.*1741G>C (n.*1741G>C) c.1558G>C (p.Ala520Pro) c.*1282G>C (n.*1282G>C) c.2074G>C (p.Ala692Pro) c.1354G>C (p.Ala452Pro) c.2005G>C (p.Ala669Pro) c.832G>C (p.Ala278Pro) | |
11 | g.68158272C>T | CA381590154 | KMT5B | c.1861G>A (p.Ala621Thr) n.2426G>A c.*1698G>A (n.*1698G>A) c.*1741G>A (n.*1741G>A) c.1558G>A (p.Ala520Thr) c.*1282G>A (n.*1282G>A) c.2074G>A (p.Ala692Thr) c.1354G>A (p.Ala452Thr) c.2005G>A (p.Ala669Thr) c.832G>A (p.Ala278Thr) | ClinVar dbSNP gnomAD v4 |
11 | g.68158273A>C | CA475514909 | KMT5B | c.1860T>G (p.Thr620=) n.2425T>G c.*1697T>G (n.*1697T>G) c.*1740T>G (n.*1740T>G) c.1557T>G (p.Thr519=) c.*1281T>G (n.*1281T>G) c.2073T>G (p.Thr691=) c.1353T>G (p.Thr451=) c.2004T>G (p.Thr668=) c.831T>G (p.Thr277=) | |
11 | g.68158273A>G | CA475514910 | KMT5B | c.1860T>C (p.Thr620=) n.2425T>C c.*1697T>C (n.*1697T>C) c.*1740T>C (n.*1740T>C) c.1557T>C (p.Thr519=) c.*1281T>C (n.*1281T>C) c.2073T>C (p.Thr691=) c.1353T>C (p.Thr451=) c.2004T>C (p.Thr668=) c.831T>C (p.Thr277=) | |
11 | g.68158273A>T | CA475514911 | KMT5B | c.1860T>A (p.Thr620=) n.2425T>A c.*1697T>A (n.*1697T>A) c.*1740T>A (n.*1740T>A) c.1557T>A (p.Thr519=) c.*1281T>A (n.*1281T>A) c.2073T>A (p.Thr691=) c.1353T>A (p.Thr451=) c.2004T>A (p.Thr668=) c.831T>A (p.Thr277=) | |
11 | g.68158274G>A | CA381590157 | KMT5B | c.1859C>T (p.Thr620Ile) n.2424C>T c.*1696C>T (n.*1696C>T) c.*1739C>T (n.*1739C>T) c.1556C>T (p.Thr519Ile) c.*1280C>T (n.*1280C>T) c.2072C>T (p.Thr691Ile) c.1352C>T (p.Thr451Ile) c.2003C>T (p.Thr668Ile) c.830C>T (p.Thr277Ile) | |
11 | g.68158274G>C | CA381590163 | KMT5B | c.1859C>G (p.Thr620Ser) n.2424C>G c.*1696C>G (n.*1696C>G) c.*1739C>G (n.*1739C>G) c.1556C>G (p.Thr519Ser) c.*1280C>G (n.*1280C>G) c.2072C>G (p.Thr691Ser) c.1352C>G (p.Thr451Ser) c.2003C>G (p.Thr668Ser) c.830C>G (p.Thr277Ser) | |
11 | g.68158274G>T | CA381590168 | KMT5B | c.1859C>A (p.Thr620Asn) n.2424C>A c.*1696C>A (n.*1696C>A) c.*1739C>A (n.*1739C>A) c.1556C>A (p.Thr519Asn) c.*1280C>A (n.*1280C>A) c.2072C>A (p.Thr691Asn) c.1352C>A (p.Thr451Asn) c.2003C>A (p.Thr668Asn) c.830C>A (p.Thr277Asn) | |
11 | g.68158275T>A | CA381590179 | KMT5B | c.1858A>T (p.Thr620Ser) n.2423A>T c.*1695A>T (n.*1695A>T) c.*1738A>T (n.*1738A>T) c.1555A>T (p.Thr519Ser) c.*1279A>T (n.*1279A>T) c.2071A>T (p.Thr691Ser) c.1351A>T (p.Thr451Ser) c.2002A>T (p.Thr668Ser) c.829A>T (p.Thr277Ser) | |
11 | g.68158275T>C | CA381590176 | KMT5B | c.1858A>G (p.Thr620Ala) n.2423A>G c.*1695A>G (n.*1695A>G) c.*1738A>G (n.*1738A>G) c.1555A>G (p.Thr519Ala) c.*1279A>G (n.*1279A>G) c.2071A>G (p.Thr691Ala) c.1351A>G (p.Thr451Ala) c.2002A>G (p.Thr668Ala) c.829A>G (p.Thr277Ala) | |
11 | g.68158275T>G | CA381590173 | KMT5B | c.1858A>C (p.Thr620Pro) n.2423A>C c.*1695A>C (n.*1695A>C) c.*1738A>C (n.*1738A>C) c.1555A>C (p.Thr519Pro) c.*1279A>C (n.*1279A>C) c.2071A>C (p.Thr691Pro) c.1351A>C (p.Thr451Pro) c.2002A>C (p.Thr668Pro) c.829A>C (p.Thr277Pro) | |
11 | g.68158276T>A | CA381590184 | KMT5B | c.1857A>T (p.Arg619Ser) n.2422A>T c.*1694A>T (n.*1694A>T) c.*1737A>T (n.*1737A>T) c.1554A>T (p.Arg518Ser) c.*1278A>T (n.*1278A>T) c.2070A>T (p.Arg690Ser) c.1350A>T (p.Arg450Ser) c.2001A>T (p.Arg667Ser) c.828A>T (p.Arg276Ser) | |
11 | g.68158276T>C | CA475514919 | KMT5B | c.1857A>G (p.Arg619=) n.2422A>G c.*1694A>G (n.*1694A>G) c.*1737A>G (n.*1737A>G) c.1554A>G (p.Arg518=) c.*1278A>G (n.*1278A>G) c.2070A>G (p.Arg690=) c.1350A>G (p.Arg450=) c.2001A>G (p.Arg667=) c.828A>G (p.Arg276=) | |
11 | g.68158276T>G | CA381590186 | KMT5B | c.1857A>C (p.Arg619Ser) n.2422A>C c.*1694A>C (n.*1694A>C) c.*1737A>C (n.*1737A>C) c.1554A>C (p.Arg518Ser) c.*1278A>C (n.*1278A>C) c.2070A>C (p.Arg690Ser) c.1350A>C (p.Arg450Ser) c.2001A>C (p.Arg667Ser) c.828A>C (p.Arg276Ser) | |
11 | g.68158277C>A | CA381590190 | KMT5B | c.1856G>T (p.Arg619Ile) n.2421G>T c.*1693G>T (n.*1693G>T) c.*1736G>T (n.*1736G>T) c.1553G>T (p.Arg518Ile) c.*1277G>T (n.*1277G>T) c.2069G>T (p.Arg690Ile) c.1349G>T (p.Arg450Ile) c.2000G>T (p.Arg667Ile) c.827G>T (p.Arg276Ile) | |
11 | g.68158277C>G | CA381590191 | KMT5B | c.1856G>C (p.Arg619Thr) n.2421G>C c.*1693G>C (n.*1693G>C) c.*1736G>C (n.*1736G>C) c.1553G>C (p.Arg518Thr) c.*1277G>C (n.*1277G>C) c.2069G>C (p.Arg690Thr) c.1349G>C (p.Arg450Thr) c.2000G>C (p.Arg667Thr) c.827G>C (p.Arg276Thr) | COSMIC |
11 | g.68158277C>T | CA381590193 | KMT5B | c.1856G>A (p.Arg619Lys) n.2421G>A c.*1693G>A (n.*1693G>A) c.*1736G>A (n.*1736G>A) c.1553G>A (p.Arg518Lys) c.*1277G>A (n.*1277G>A) c.2069G>A (p.Arg690Lys) c.1349G>A (p.Arg450Lys) c.2000G>A (p.Arg667Lys) c.827G>A (p.Arg276Lys) | |
11 | g.68158278T>A | CA381590196 | KMT5B | c.1855A>T (p.Arg619Ter) n.2420A>T c.*1692A>T (n.*1692A>T) c.*1735A>T (n.*1735A>T) c.1552A>T (p.Arg518Ter) c.*1276A>T (n.*1276A>T) c.2068A>T (p.Arg690Ter) c.1348A>T (p.Arg450Ter) c.1999A>T (p.Arg667Ter) c.826A>T (p.Arg276Ter) | |
11 | g.68158278T>C | CA381590202 | KMT5B | c.1855A>G (p.Arg619Gly) n.2420A>G c.*1692A>G (n.*1692A>G) c.*1735A>G (n.*1735A>G) c.1552A>G (p.Arg518Gly) c.*1276A>G (n.*1276A>G) c.2068A>G (p.Arg690Gly) c.1348A>G (p.Arg450Gly) c.1999A>G (p.Arg667Gly) c.826A>G (p.Arg276Gly) | gnomAD v4 |
11 | g.68158278T>G | CA475514922 | KMT5B | c.1855A>C (p.Arg619=) n.2420A>C c.*1692A>C (n.*1692A>C) c.*1735A>C (n.*1735A>C) c.1552A>C (p.Arg518=) c.*1276A>C (n.*1276A>C) c.2068A>C (p.Arg690=) c.1348A>C (p.Arg450=) c.1999A>C (p.Arg667=) c.826A>C (p.Arg276=) | |
11 | g.68158279A>C | CA381590205 | KMT5B | c.1854T>G (p.Phe618Leu) n.2419T>G c.*1691T>G (n.*1691T>G) c.*1734T>G (n.*1734T>G) c.1551T>G (p.Phe517Leu) c.*1275T>G (n.*1275T>G) c.2067T>G (p.Phe689Leu) c.1347T>G (p.Phe449Leu) c.1998T>G (p.Phe666Leu) c.825T>G (p.Phe275Leu) | |
11 | g.68158279A>G | CA475514923 | KMT5B | c.1854T>C (p.Phe618=) n.2419T>C c.*1691T>C (n.*1691T>C) c.*1734T>C (n.*1734T>C) c.1551T>C (p.Phe517=) c.*1275T>C (n.*1275T>C) c.2067T>C (p.Phe689=) c.1347T>C (p.Phe449=) c.1998T>C (p.Phe666=) c.825T>C (p.Phe275=) | |
11 | g.68158279A>T | CA381590207 | KMT5B | c.1854T>A (p.Phe618Leu) n.2419T>A c.*1691T>A (n.*1691T>A) c.*1734T>A (n.*1734T>A) c.1551T>A (p.Phe517Leu) c.*1275T>A (n.*1275T>A) c.2067T>A (p.Phe689Leu) c.1347T>A (p.Phe449Leu) c.1998T>A (p.Phe666Leu) c.825T>A (p.Phe275Leu) | gnomAD v4 |
11 | g.68158280A>C | CA381590209 | KMT5B | c.1853T>G (p.Phe618Cys) n.2418T>G c.*1690T>G (n.*1690T>G) c.*1733T>G (n.*1733T>G) c.1550T>G (p.Phe517Cys) c.*1274T>G (n.*1274T>G) c.2066T>G (p.Phe689Cys) c.1346T>G (p.Phe449Cys) c.1997T>G (p.Phe666Cys) c.824T>G (p.Phe275Cys) | |
11 | g.68158280A>G | CA381590213 | KMT5B | c.1853T>C (p.Phe618Ser) n.2418T>C c.*1690T>C (n.*1690T>C) c.*1733T>C (n.*1733T>C) c.1550T>C (p.Phe517Ser) c.*1274T>C (n.*1274T>C) c.2066T>C (p.Phe689Ser) c.1346T>C (p.Phe449Ser) c.1997T>C (p.Phe666Ser) c.824T>C (p.Phe275Ser) | |
11 | g.68158280A>T | CA381590215 | KMT5B | c.1853T>A (p.Phe618Tyr) n.2418T>A c.*1690T>A (n.*1690T>A) c.*1733T>A (n.*1733T>A) c.1550T>A (p.Phe517Tyr) c.*1274T>A (n.*1274T>A) c.2066T>A (p.Phe689Tyr) c.1346T>A (p.Phe449Tyr) c.1997T>A (p.Phe666Tyr) c.824T>A (p.Phe275Tyr) | |
11 | g.68158281A>C | CA381590228 | KMT5B | c.1852T>G (p.Phe618Val) n.2417T>G c.*1689T>G (n.*1689T>G) c.*1732T>G (n.*1732T>G) c.1549T>G (p.Phe517Val) c.*1273T>G (n.*1273T>G) c.2065T>G (p.Phe689Val) c.1345T>G (p.Phe449Val) c.1996T>G (p.Phe666Val) c.823T>G (p.Phe275Val) | |
11 | g.68158281A>G | CA381590221 | KMT5B | c.1852T>C (p.Phe618Leu) n.2417T>C c.*1689T>C (n.*1689T>C) c.*1732T>C (n.*1732T>C) c.1549T>C (p.Phe517Leu) c.*1273T>C (n.*1273T>C) c.2065T>C (p.Phe689Leu) c.1345T>C (p.Phe449Leu) c.1996T>C (p.Phe666Leu) c.823T>C (p.Phe275Leu) | |
11 | g.68158281A>T | CA381590219 | KMT5B | c.1852T>A (p.Phe618Ile) n.2417T>A c.*1689T>A (n.*1689T>A) c.*1732T>A (n.*1732T>A) c.1549T>A (p.Phe517Ile) c.*1273T>A (n.*1273T>A) c.2065T>A (p.Phe689Ile) c.1345T>A (p.Phe449Ile) c.1996T>A (p.Phe666Ile) c.823T>A (p.Phe275Ile) | |
11 | g.68158282G>A | CA475514925 | KMT5B | c.1851C>T (p.Ser617=) n.2416C>T c.*1688C>T (n.*1688C>T) c.*1731C>T (n.*1731C>T) c.1548C>T (p.Ser516=) c.*1272C>T (n.*1272C>T) c.2064C>T (p.Ser688=) c.1344C>T (p.Ser448=) c.1995C>T (p.Ser665=) c.822C>T (p.Ser274=) | |
11 | g.68158282G>C | CA381590233 | KMT5B | c.1851C>G (p.Ser617Arg) n.2416C>G c.*1688C>G (n.*1688C>G) c.*1731C>G (n.*1731C>G) c.1548C>G (p.Ser516Arg) c.*1272C>G (n.*1272C>G) c.2064C>G (p.Ser688Arg) c.1344C>G (p.Ser448Arg) c.1995C>G (p.Ser665Arg) c.822C>G (p.Ser274Arg) | |
11 | g.68158282G>T | CA381590236 | KMT5B | c.1851C>A (p.Ser617Arg) n.2416C>A c.*1688C>A (n.*1688C>A) c.*1731C>A (n.*1731C>A) c.1548C>A (p.Ser516Arg) c.*1272C>A (n.*1272C>A) c.2064C>A (p.Ser688Arg) c.1344C>A (p.Ser448Arg) c.1995C>A (p.Ser665Arg) c.822C>A (p.Ser274Arg) | |
11 | g.68158283C>A | CA381590241 | KMT5B | c.1850G>T (p.Ser617Ile) n.2415G>T c.*1687G>T (n.*1687G>T) c.*1730G>T (n.*1730G>T) c.1547G>T (p.Ser516Ile) c.*1271G>T (n.*1271G>T) c.2063G>T (p.Ser688Ile) c.1343G>T (p.Ser448Ile) c.1994G>T (p.Ser665Ile) c.821G>T (p.Ser274Ile) | |
11 | g.68158283C>G | CA381590244 | KMT5B | c.1850G>C (p.Ser617Thr) n.2415G>C c.*1687G>C (n.*1687G>C) c.*1730G>C (n.*1730G>C) c.1547G>C (p.Ser516Thr) c.*1271G>C (n.*1271G>C) c.2063G>C (p.Ser688Thr) c.1343G>C (p.Ser448Thr) c.1994G>C (p.Ser665Thr) c.821G>C (p.Ser274Thr) | |
11 | g.68158283C>T | CA381590247 | KMT5B | c.1850G>A (p.Ser617Asn) n.2415G>A c.*1687G>A (n.*1687G>A) c.*1730G>A (n.*1730G>A) c.1547G>A (p.Ser516Asn) c.*1271G>A (n.*1271G>A) c.2063G>A (p.Ser688Asn) c.1343G>A (p.Ser448Asn) c.1994G>A (p.Ser665Asn) c.821G>A (p.Ser274Asn) | dbSNP |
11 | g.68158284T>A | CA381590250 | KMT5B | c.1849A>T (p.Ser617Cys) n.2414A>T c.*1686A>T (n.*1686A>T) c.*1729A>T (n.*1729A>T) c.1546A>T (p.Ser516Cys) c.*1270A>T (n.*1270A>T) c.2062A>T (p.Ser688Cys) c.1342A>T (p.Ser448Cys) c.1993A>T (p.Ser665Cys) c.820A>T (p.Ser274Cys) | |
11 | g.68158284T>C | CA6148060 | KMT5B | c.1849A>G (p.Ser617Gly) n.2414A>G c.*1686A>G (n.*1686A>G) c.*1729A>G (n.*1729A>G) c.1546A>G (p.Ser516Gly) c.*1270A>G (n.*1270A>G) c.2062A>G (p.Ser688Gly) c.1342A>G (p.Ser448Gly) c.1993A>G (p.Ser665Gly) c.820A>G (p.Ser274Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68158284T>G | CA381590258 | KMT5B | c.1849A>C (p.Ser617Arg) n.2414A>C c.*1686A>C (n.*1686A>C) c.*1729A>C (n.*1729A>C) c.1546A>C (p.Ser516Arg) c.*1270A>C (n.*1270A>C) c.2062A>C (p.Ser688Arg) c.1342A>C (p.Ser448Arg) c.1993A>C (p.Ser665Arg) c.820A>C (p.Ser274Arg) | |
11 | g.68158284T= | CA1980500816 | KMT5B | c.1849A= (p.Ser617=) n.2414A= c.*1686A= (n.*1686A=) c.*1729A= (n.*1729A=) c.1546A= (p.Ser516=) c.*1270A= (n.*1270A=) c.2062A= (p.Ser688=) c.1342A= (p.Ser448=) c.1993A= (p.Ser665=) c.820A= (p.Ser274=) | |
11 | g.68158285G>A | CA475514930 | KMT5B | c.1848C>T (p.Asp616=) n.2413C>T c.*1685C>T (n.*1685C>T) c.*1728C>T (n.*1728C>T) c.1545C>T (p.Asp515=) c.*1269C>T (n.*1269C>T) c.2061C>T (p.Asp687=) c.1341C>T (p.Asp447=) c.1992C>T (p.Asp664=) c.819C>T (p.Asp273=) | gnomAD v4 |
11 | g.68158285G>C | CA381590263 | KMT5B | c.1848C>G (p.Asp616Glu) n.2413C>G c.*1685C>G (n.*1685C>G) c.*1728C>G (n.*1728C>G) c.1545C>G (p.Asp515Glu) c.*1269C>G (n.*1269C>G) c.2061C>G (p.Asp687Glu) c.1341C>G (p.Asp447Glu) c.1992C>G (p.Asp664Glu) c.819C>G (p.Asp273Glu) | |
11 | g.68158285G>T | CA381590277 | KMT5B | c.1848C>A (p.Asp616Glu) n.2413C>A c.*1685C>A (n.*1685C>A) c.*1728C>A (n.*1728C>A) c.1545C>A (p.Asp515Glu) c.*1269C>A (n.*1269C>A) c.2061C>A (p.Asp687Glu) c.1341C>A (p.Asp447Glu) c.1992C>A (p.Asp664Glu) c.819C>A (p.Asp273Glu) | |
11 | g.68158286T>A | CA381590285 | KMT5B | c.1847A>T (p.Asp616Val) n.2412A>T c.*1684A>T (n.*1684A>T) c.*1727A>T (n.*1727A>T) c.1544A>T (p.Asp515Val) c.*1268A>T (n.*1268A>T) c.2060A>T (p.Asp687Val) c.1340A>T (p.Asp447Val) c.1991A>T (p.Asp664Val) c.818A>T (p.Asp273Val) | |
11 | g.68158286T>C | CA381590291 | KMT5B | c.1847A>G (p.Asp616Gly) n.2412A>G c.*1684A>G (n.*1684A>G) c.*1727A>G (n.*1727A>G) c.1544A>G (p.Asp515Gly) c.*1268A>G (n.*1268A>G) c.2060A>G (p.Asp687Gly) c.1340A>G (p.Asp447Gly) c.1991A>G (p.Asp664Gly) c.818A>G (p.Asp273Gly) | |
11 | g.68158286T>G | CA381590293 | KMT5B | c.1847A>C (p.Asp616Ala) n.2412A>C c.*1684A>C (n.*1684A>C) c.*1727A>C (n.*1727A>C) c.1544A>C (p.Asp515Ala) c.*1268A>C (n.*1268A>C) c.2060A>C (p.Asp687Ala) c.1340A>C (p.Asp447Ala) c.1991A>C (p.Asp664Ala) c.818A>C (p.Asp273Ala) | |
11 | g.68158287C>A | CA381590302 | KMT5B | c.1846G>T (p.Asp616Tyr) n.2411G>T c.*1683G>T (n.*1683G>T) c.*1726G>T (n.*1726G>T) c.1543G>T (p.Asp515Tyr) c.*1267G>T (n.*1267G>T) c.2059G>T (p.Asp687Tyr) c.1339G>T (p.Asp447Tyr) c.1990G>T (p.Asp664Tyr) c.817G>T (p.Asp273Tyr) | COSMIC COSMIC |
11 | g.68158287C= | CA1980500821 | KMT5B | c.1846G= (p.Asp616=) n.2411G= c.*1683G= (n.*1683G=) c.*1726G= (n.*1726G=) c.1543G= (p.Asp515=) c.*1267G= (n.*1267G=) c.2059G= (p.Asp687=) c.1339G= (p.Asp447=) c.1990G= (p.Asp664=) c.817G= (p.Asp273=) | |
11 | g.68158287C>G | CA381590301 | KMT5B | c.1846G>C (p.Asp616His) n.2411G>C c.*1683G>C (n.*1683G>C) c.*1726G>C (n.*1726G>C) c.1543G>C (p.Asp515His) c.*1267G>C (n.*1267G>C) c.2059G>C (p.Asp687His) c.1339G>C (p.Asp447His) c.1990G>C (p.Asp664His) c.817G>C (p.Asp273His) | dbSNP gnomAD v4 |
11 | g.68158287C>T | CA381590298 | KMT5B | c.1846G>A (p.Asp616Asn) n.2411G>A c.*1683G>A (n.*1683G>A) c.*1726G>A (n.*1726G>A) c.1543G>A (p.Asp515Asn) c.*1267G>A (n.*1267G>A) c.2059G>A (p.Asp687Asn) c.1339G>A (p.Asp447Asn) c.1990G>A (p.Asp664Asn) c.817G>A (p.Asp273Asn) | dbSNP gnomAD v2 |
11 | g.68158288T>A | CA381590305 | KMT5B | c.1845A>T (p.Lys615Asn) n.2410A>T c.*1682A>T (n.*1682A>T) c.*1725A>T (n.*1725A>T) c.1542A>T (p.Lys514Asn) c.*1266A>T (n.*1266A>T) c.2058A>T (p.Lys686Asn) c.1338A>T (p.Lys446Asn) c.1989A>T (p.Lys663Asn) c.816A>T (p.Lys272Asn) | |
11 | g.68158288T>C | CA475514936 | KMT5B | c.1845A>G (p.Lys615=) n.2410A>G c.*1682A>G (n.*1682A>G) c.*1725A>G (n.*1725A>G) c.1542A>G (p.Lys514=) c.*1266A>G (n.*1266A>G) c.2058A>G (p.Lys686=) c.1338A>G (p.Lys446=) c.1989A>G (p.Lys663=) c.816A>G (p.Lys272=) | |
11 | g.68158288T>G | CA381590309 | KMT5B | c.1845A>C (p.Lys615Asn) n.2410A>C c.*1682A>C (n.*1682A>C) c.*1725A>C (n.*1725A>C) c.1542A>C (p.Lys514Asn) c.*1266A>C (n.*1266A>C) c.2058A>C (p.Lys686Asn) c.1338A>C (p.Lys446Asn) c.1989A>C (p.Lys663Asn) c.816A>C (p.Lys272Asn) | |
11 | g.68158289T>A | CA381590312 | KMT5B | c.1844A>T (p.Lys615Ile) n.2409A>T c.*1681A>T (n.*1681A>T) c.*1724A>T (n.*1724A>T) c.1541A>T (p.Lys514Ile) c.*1265A>T (n.*1265A>T) c.2057A>T (p.Lys686Ile) c.1337A>T (p.Lys446Ile) c.1988A>T (p.Lys663Ile) c.815A>T (p.Lys272Ile) | |
11 | g.68158289T>C | CA381590316 | KMT5B | c.1844A>G (p.Lys615Arg) n.2409A>G c.*1681A>G (n.*1681A>G) c.*1724A>G (n.*1724A>G) c.1541A>G (p.Lys514Arg) c.*1265A>G (n.*1265A>G) c.2057A>G (p.Lys686Arg) c.1337A>G (p.Lys446Arg) c.1988A>G (p.Lys663Arg) c.815A>G (p.Lys272Arg) | |
11 | g.68158289T>G | CA381590320 | KMT5B | c.1844A>C (p.Lys615Thr) n.2409A>C c.*1681A>C (n.*1681A>C) c.*1724A>C (n.*1724A>C) c.1541A>C (p.Lys514Thr) c.*1265A>C (n.*1265A>C) c.2057A>C (p.Lys686Thr) c.1337A>C (p.Lys446Thr) c.1988A>C (p.Lys663Thr) c.815A>C (p.Lys272Thr) | |
11 | g.68158290T>A | CA381590323 | KMT5B | c.1843A>T (p.Lys615Ter) n.2408A>T c.*1680A>T (n.*1680A>T) c.*1723A>T (n.*1723A>T) c.1540A>T (p.Lys514Ter) c.*1264A>T (n.*1264A>T) c.2056A>T (p.Lys686Ter) c.1336A>T (p.Lys446Ter) c.1987A>T (p.Lys663Ter) c.814A>T (p.Lys272Ter) | |
11 | g.68158290T>C | CA6148061 | KMT5B | c.1843A>G (p.Lys615Glu) n.2408A>G c.*1680A>G (n.*1680A>G) c.*1723A>G (n.*1723A>G) c.1540A>G (p.Lys514Glu) c.*1264A>G (n.*1264A>G) c.2056A>G (p.Lys686Glu) c.1336A>G (p.Lys446Glu) c.1987A>G (p.Lys663Glu) c.814A>G (p.Lys272Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68158290T>G | CA381590328 | KMT5B | c.1843A>C (p.Lys615Gln) n.2408A>C c.*1680A>C (n.*1680A>C) c.*1723A>C (n.*1723A>C) c.1540A>C (p.Lys514Gln) c.*1264A>C (n.*1264A>C) c.2056A>C (p.Lys686Gln) c.1336A>C (p.Lys446Gln) c.1987A>C (p.Lys663Gln) c.814A>C (p.Lys272Gln) | |
11 | g.68158290T= | CA1980500824 | KMT5B | c.1843A= (p.Lys615=) n.2408A= c.*1680A= (n.*1680A=) c.*1723A= (n.*1723A=) c.1540A= (p.Lys514=) c.*1264A= (n.*1264A=) c.2056A= (p.Lys686=) c.1336A= (p.Lys446=) c.1987A= (p.Lys663=) c.814A= (p.Lys272=) | |
11 | g.68158291T>A | CA475514938 | KMT5B | c.1842A>T (p.Thr614=) n.2407A>T c.*1679A>T (n.*1679A>T) c.*1722A>T (n.*1722A>T) c.1539A>T (p.Thr513=) c.*1263A>T (n.*1263A>T) c.2055A>T (p.Thr685=) c.1335A>T (p.Thr445=) c.1986A>T (p.Thr662=) c.813A>T (p.Thr271=) | |
11 | g.68158291T>C | CA6148062 | KMT5B | c.1842A>G (p.Thr614=) n.2407A>G c.*1679A>G (n.*1679A>G) c.*1722A>G (n.*1722A>G) c.1539A>G (p.Thr513=) c.*1263A>G (n.*1263A>G) c.2055A>G (p.Thr685=) c.1335A>G (p.Thr445=) c.1986A>G (p.Thr662=) c.813A>G (p.Thr271=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68158291T>G | CA475514940 | KMT5B | c.1842A>C (p.Thr614=) n.2407A>C c.*1679A>C (n.*1679A>C) c.*1722A>C (n.*1722A>C) c.1539A>C (p.Thr513=) c.*1263A>C (n.*1263A>C) c.2055A>C (p.Thr685=) c.1335A>C (p.Thr445=) c.1986A>C (p.Thr662=) c.813A>C (p.Thr271=) | |
11 | g.68158291T= | CA1980500830 | KMT5B | c.1842A= (p.Thr614=) n.2407A= c.*1679A= (n.*1679A=) c.*1722A= (n.*1722A=) c.1539A= (p.Thr513=) c.*1263A= (n.*1263A=) c.2055A= (p.Thr685=) c.1335A= (p.Thr445=) c.1986A= (p.Thr662=) c.813A= (p.Thr271=) | |
11 | g.68158292G>A | CA381590329 | KMT5B | c.1841C>T (p.Thr614Ile) n.2406C>T c.*1678C>T (n.*1678C>T) c.*1721C>T (n.*1721C>T) c.1538C>T (p.Thr513Ile) c.*1262C>T (n.*1262C>T) c.2054C>T (p.Thr685Ile) c.1334C>T (p.Thr445Ile) c.1985C>T (p.Thr662Ile) c.812C>T (p.Thr271Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.68158292G>C | CA381590332 | KMT5B | c.1841C>G (p.Thr614Arg) n.2406C>G c.*1678C>G (n.*1678C>G) c.*1721C>G (n.*1721C>G) c.1538C>G (p.Thr513Arg) c.*1262C>G (n.*1262C>G) c.2054C>G (p.Thr685Arg) c.1334C>G (p.Thr445Arg) c.1985C>G (p.Thr662Arg) c.812C>G (p.Thr271Arg) | |
11 | g.68158292G= | CA1980500835 | KMT5B | c.1841C= (p.Thr614=) n.2406C= c.*1678C= (n.*1678C=) c.*1721C= (n.*1721C=) c.1538C= (p.Thr513=) c.*1262C= (n.*1262C=) c.2054C= (p.Thr685=) c.1334C= (p.Thr445=) c.1985C= (p.Thr662=) c.812C= (p.Thr271=) | |
11 | g.68158292G>T | CA381590334 | KMT5B | c.1841C>A (p.Thr614Lys) n.2406C>A c.*1678C>A (n.*1678C>A) c.*1721C>A (n.*1721C>A) c.1538C>A (p.Thr513Lys) c.*1262C>A (n.*1262C>A) c.2054C>A (p.Thr685Lys) c.1334C>A (p.Thr445Lys) c.1985C>A (p.Thr662Lys) c.812C>A (p.Thr271Lys) | |
11 | g.68158293T>A | CA381590339 | KMT5B | c.1840A>T (p.Thr614Ser) n.2405A>T c.*1677A>T (n.*1677A>T) c.*1720A>T (n.*1720A>T) c.1537A>T (p.Thr513Ser) c.*1261A>T (n.*1261A>T) c.2053A>T (p.Thr685Ser) c.*1641A>T (n.*1641A>T) c.1333A>T (p.Thr445Ser) c.1984A>T (p.Thr662Ser) c.811A>T (p.Thr271Ser) | |
11 | g.68158293T>C | CA381590342 | KMT5B | c.1840A>G (p.Thr614Ala) n.2405A>G c.*1677A>G (n.*1677A>G) c.*1720A>G (n.*1720A>G) c.1537A>G (p.Thr513Ala) c.*1261A>G (n.*1261A>G) c.2053A>G (p.Thr685Ala) c.*1641A>G (n.*1641A>G) c.1333A>G (p.Thr445Ala) c.1984A>G (p.Thr662Ala) c.811A>G (p.Thr271Ala) | |
11 | g.68158293T>G | CA381590337 | KMT5B | c.1840A>C (p.Thr614Pro) n.2405A>C c.*1677A>C (n.*1677A>C) c.*1720A>C (n.*1720A>C) c.1537A>C (p.Thr513Pro) c.*1261A>C (n.*1261A>C) c.2053A>C (p.Thr685Pro) c.*1641A>C (n.*1641A>C) c.1333A>C (p.Thr445Pro) c.1984A>C (p.Thr662Pro) c.811A>C (p.Thr271Pro) | |
11 | g.68158294T>A | CA381590345 | KMT5B | c.1839A>T (p.Lys613Asn) n.2404A>T c.*1676A>T (n.*1676A>T) c.*1719A>T (n.*1719A>T) c.1536A>T (p.Lys512Asn) c.*1260A>T (n.*1260A>T) c.2052A>T (p.Lys684Asn) c.*1640A>T (n.*1640A>T) c.1332A>T (p.Lys444Asn) c.1983A>T (p.Lys661Asn) c.810A>T (p.Lys270Asn) | |
11 | g.68158294T>C | CA475514942 | KMT5B | c.1839A>G (p.Lys613=) n.2404A>G c.*1676A>G (n.*1676A>G) c.*1719A>G (n.*1719A>G) c.1536A>G (p.Lys512=) c.*1260A>G (n.*1260A>G) c.2052A>G (p.Lys684=) c.*1640A>G (n.*1640A>G) c.1332A>G (p.Lys444=) c.1983A>G (p.Lys661=) c.810A>G (p.Lys270=) | gnomAD v4 |
11 | g.68158294T>G | CA381590348 | KMT5B | c.1839A>C (p.Lys613Asn) n.2404A>C c.*1676A>C (n.*1676A>C) c.*1719A>C (n.*1719A>C) c.1536A>C (p.Lys512Asn) c.*1260A>C (n.*1260A>C) c.2052A>C (p.Lys684Asn) c.*1640A>C (n.*1640A>C) c.1332A>C (p.Lys444Asn) c.1983A>C (p.Lys661Asn) c.810A>C (p.Lys270Asn) | |
11 | g.68158295T>A | CA381590351 | KMT5B | c.1838A>T (p.Lys613Ile) n.2403A>T c.*1675A>T (n.*1675A>T) c.*1718A>T (n.*1718A>T) c.1535A>T (p.Lys512Ile) c.*1259A>T (n.*1259A>T) c.2051A>T (p.Lys684Ile) c.*1639A>T (n.*1639A>T) c.1331A>T (p.Lys444Ile) c.1982A>T (p.Lys661Ile) c.809A>T (p.Lys270Ile) | |
11 | g.68158295T>C | CA381590354 | KMT5B | c.1838A>G (p.Lys613Arg) n.2403A>G c.*1675A>G (n.*1675A>G) c.*1718A>G (n.*1718A>G) c.1535A>G (p.Lys512Arg) c.*1259A>G (n.*1259A>G) c.2051A>G (p.Lys684Arg) c.*1639A>G (n.*1639A>G) c.1331A>G (p.Lys444Arg) c.1982A>G (p.Lys661Arg) c.809A>G (p.Lys270Arg) | |
11 | g.68158295T>G | CA381590359 | KMT5B | c.1838A>C (p.Lys613Thr) n.2403A>C c.*1675A>C (n.*1675A>C) c.*1718A>C (n.*1718A>C) c.1535A>C (p.Lys512Thr) c.*1259A>C (n.*1259A>C) c.2051A>C (p.Lys684Thr) c.*1639A>C (n.*1639A>C) c.1331A>C (p.Lys444Thr) c.1982A>C (p.Lys661Thr) c.809A>C (p.Lys270Thr) |