UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68157985A>C | CA381587734 | KMT5B | c.2148T>G (p.Asn716Lys) n.2713T>G c.*1985T>G (n.*1985T>G) c.*2028T>G (n.*2028T>G) c.1845T>G (p.Asn615Lys) c.*1569T>G (n.*1569T>G) c.2361T>G (p.Asn787Lys) c.1641T>G (p.Asn547Lys) c.2292T>G (p.Asn764Lys) c.1119T>G (p.Asn373Lys) | |
| 11 | g.68157985A>G | CA475514744 | KMT5B | c.2148T>C (p.Asn716=) n.2713T>C c.*1985T>C (n.*1985T>C) c.*2028T>C (n.*2028T>C) c.1845T>C (p.Asn615=) c.*1569T>C (n.*1569T>C) c.2361T>C (p.Asn787=) c.1641T>C (p.Asn547=) c.2292T>C (p.Asn764=) c.1119T>C (p.Asn373=) | |
| 11 | g.68157985A>T | CA381587747 | KMT5B | c.2148T>A (p.Asn716Lys) n.2713T>A c.*1985T>A (n.*1985T>A) c.*2028T>A (n.*2028T>A) c.1845T>A (p.Asn615Lys) c.*1569T>A (n.*1569T>A) c.2361T>A (p.Asn787Lys) c.1641T>A (p.Asn547Lys) c.2292T>A (p.Asn764Lys) c.1119T>A (p.Asn373Lys) | |
| 11 | g.68157986T>A | CA381587751 | KMT5B | c.2147A>T (p.Asn716Ile) n.2712A>T c.*1984A>T (n.*1984A>T) c.*2027A>T (n.*2027A>T) c.1844A>T (p.Asn615Ile) c.*1568A>T (n.*1568A>T) c.2360A>T (p.Asn787Ile) c.1640A>T (p.Asn547Ile) c.2291A>T (p.Asn764Ile) c.1118A>T (p.Asn373Ile) | |
| 11 | g.68157986T>C | CA381587754 | KMT5B | c.2147A>G (p.Asn716Ser) n.2712A>G c.*1984A>G (n.*1984A>G) c.*2027A>G (n.*2027A>G) c.1844A>G (p.Asn615Ser) c.*1568A>G (n.*1568A>G) c.2360A>G (p.Asn787Ser) c.1640A>G (p.Asn547Ser) c.2291A>G (p.Asn764Ser) c.1118A>G (p.Asn373Ser) | |
| 11 | g.68157986T>G | CA381587766 | KMT5B | c.2147A>C (p.Asn716Thr) n.2712A>C c.*1984A>C (n.*1984A>C) c.*2027A>C (n.*2027A>C) c.1844A>C (p.Asn615Thr) c.*1568A>C (n.*1568A>C) c.2360A>C (p.Asn787Thr) c.1640A>C (p.Asn547Thr) c.2291A>C (p.Asn764Thr) c.1118A>C (p.Asn373Thr) | |
| 11 | g.68157987T>A | CA381587767 | KMT5B | c.2146A>T (p.Asn716Tyr) n.2711A>T c.*1983A>T (n.*1983A>T) c.*2026A>T (n.*2026A>T) c.1843A>T (p.Asn615Tyr) c.*1567A>T (n.*1567A>T) c.2359A>T (p.Asn787Tyr) c.1639A>T (p.Asn547Tyr) c.2290A>T (p.Asn764Tyr) c.1117A>T (p.Asn373Tyr) | |
| 11 | g.68157987T>C | CA381587768 | KMT5B | c.2146A>G (p.Asn716Asp) n.2711A>G c.*1983A>G (n.*1983A>G) c.*2026A>G (n.*2026A>G) c.1843A>G (p.Asn615Asp) c.*1567A>G (n.*1567A>G) c.2359A>G (p.Asn787Asp) c.1639A>G (p.Asn547Asp) c.2290A>G (p.Asn764Asp) c.1117A>G (p.Asn373Asp) | dbSNP gnomAD v4 |
| 11 | g.68157987T>G | CA381587769 | KMT5B | c.2146A>C (p.Asn716His) n.2711A>C c.*1983A>C (n.*1983A>C) c.*2026A>C (n.*2026A>C) c.1843A>C (p.Asn615His) c.*1567A>C (n.*1567A>C) c.2359A>C (p.Asn787His) c.1639A>C (p.Asn547His) c.2290A>C (p.Asn764His) c.1117A>C (p.Asn373His) | |
| 11 | g.68157987T= | CA1980500373 | KMT5B | c.2146A= (p.Asn716=) n.2711A= c.*1983A= (n.*1983A=) c.*2026A= (n.*2026A=) c.1843A= (p.Asn615=) c.*1567A= (n.*1567A=) c.2359A= (p.Asn787=) c.1639A= (p.Asn547=) c.2290A= (p.Asn764=) c.1117A= (p.Asn373=) | |
| 11 | g.68157988T>A | CA381587778 | KMT5B | c.2145A>T (p.Glu715Asp) n.2710A>T c.*1982A>T (n.*1982A>T) c.*2025A>T (n.*2025A>T) c.1842A>T (p.Glu614Asp) c.*1566A>T (n.*1566A>T) c.2358A>T (p.Glu786Asp) c.1638A>T (p.Glu546Asp) c.2289A>T (p.Glu763Asp) c.1116A>T (p.Glu372Asp) | |
| 11 | g.68157988T>C | CA475514745 | KMT5B | c.2145A>G (p.Glu715=) n.2710A>G c.*1982A>G (n.*1982A>G) c.*2025A>G (n.*2025A>G) c.1842A>G (p.Glu614=) c.*1566A>G (n.*1566A>G) c.2358A>G (p.Glu786=) c.1638A>G (p.Glu546=) c.2289A>G (p.Glu763=) c.1116A>G (p.Glu372=) | |
| 11 | g.68157988T>G | CA381587772 | KMT5B | c.2145A>C (p.Glu715Asp) n.2710A>C c.*1982A>C (n.*1982A>C) c.*2025A>C (n.*2025A>C) c.1842A>C (p.Glu614Asp) c.*1566A>C (n.*1566A>C) c.2358A>C (p.Glu786Asp) c.1638A>C (p.Glu546Asp) c.2289A>C (p.Glu763Asp) c.1116A>C (p.Glu372Asp) | |
| 11 | g.68157989T>A | CA381587781 | KMT5B | c.2144A>T (p.Glu715Val) n.2709A>T c.*1981A>T (n.*1981A>T) c.*2024A>T (n.*2024A>T) c.1841A>T (p.Glu614Val) c.*1565A>T (n.*1565A>T) c.2357A>T (p.Glu786Val) c.1637A>T (p.Glu546Val) c.2288A>T (p.Glu763Val) c.1115A>T (p.Glu372Val) | |
| 11 | g.68157989T>C | CA381587783 | KMT5B | c.2144A>G (p.Glu715Gly) n.2709A>G c.*1981A>G (n.*1981A>G) c.*2024A>G (n.*2024A>G) c.1841A>G (p.Glu614Gly) c.*1565A>G (n.*1565A>G) c.2357A>G (p.Glu786Gly) c.1637A>G (p.Glu546Gly) c.2288A>G (p.Glu763Gly) c.1115A>G (p.Glu372Gly) | |
| 11 | g.68157989T>G | CA381587799 | KMT5B | c.2144A>C (p.Glu715Ala) n.2709A>C c.*1981A>C (n.*1981A>C) c.*2024A>C (n.*2024A>C) c.1841A>C (p.Glu614Ala) c.*1565A>C (n.*1565A>C) c.2357A>C (p.Glu786Ala) c.1637A>C (p.Glu546Ala) c.2288A>C (p.Glu763Ala) c.1115A>C (p.Glu372Ala) | |
| 11 | g.68157991_68157993del | CA2574900137 | KMT5B | c.2142_2144del (p.Glu715del) n.2707_2709del c.*1979_*1981del (n.*1979_*1981del) c.*2022_*2024del (n.*2022_*2024del) c.1839_1841del (p.Glu614del) c.*1563_*1565del (n.*1563_*1565del) c.2355_2357del (p.Glu786del) c.1635_1637del (p.Glu546del) c.2286_2288del (p.Glu763del) c.1113_1115del (p.Glu372del) | |
| 11 | g.68157990C>A | CA381587802 | KMT5B | c.2143G>T (p.Glu715Ter) n.2708G>T c.*1980G>T (n.*1980G>T) c.*2023G>T (n.*2023G>T) c.1840G>T (p.Glu614Ter) c.*1564G>T (n.*1564G>T) c.2356G>T (p.Glu786Ter) c.1636G>T (p.Glu546Ter) c.2287G>T (p.Glu763Ter) c.1114G>T (p.Glu372Ter) | |
| 11 | g.68157990C>G | CA381587805 | KMT5B | c.2143G>C (p.Glu715Gln) n.2708G>C c.*1980G>C (n.*1980G>C) c.*2023G>C (n.*2023G>C) c.1840G>C (p.Glu614Gln) c.*1564G>C (n.*1564G>C) c.2356G>C (p.Glu786Gln) c.1636G>C (p.Glu546Gln) c.2287G>C (p.Glu763Gln) c.1114G>C (p.Glu372Gln) | dbSNP |
| 11 | g.68157990C>T | CA381587809 | KMT5B | c.2143G>A (p.Glu715Lys) n.2708G>A c.*1980G>A (n.*1980G>A) c.*2023G>A (n.*2023G>A) c.1840G>A (p.Glu614Lys) c.*1564G>A (n.*1564G>A) c.2356G>A (p.Glu786Lys) c.1636G>A (p.Glu546Lys) c.2287G>A (p.Glu763Lys) c.1114G>A (p.Glu372Lys) | |
| 11 | g.68157991C>A | CA381587810 | KMT5B | c.2142G>T (p.Glu714Asp) n.2707G>T c.*1979G>T (n.*1979G>T) c.*2022G>T (n.*2022G>T) c.1839G>T (p.Glu613Asp) c.*1563G>T (n.*1563G>T) c.2355G>T (p.Glu785Asp) c.1635G>T (p.Glu545Asp) c.2286G>T (p.Glu762Asp) c.1113G>T (p.Glu371Asp) | |
| 11 | g.68157991C>G | CA381587813 | KMT5B | c.2142G>C (p.Glu714Asp) n.2707G>C c.*1979G>C (n.*1979G>C) c.*2022G>C (n.*2022G>C) c.1839G>C (p.Glu613Asp) c.*1563G>C (n.*1563G>C) c.2355G>C (p.Glu785Asp) c.1635G>C (p.Glu545Asp) c.2286G>C (p.Glu762Asp) c.1113G>C (p.Glu371Asp) | |
| 11 | g.68157991C>T | CA475514746 | KMT5B | c.2142G>A (p.Glu714=) n.2707G>A c.*1979G>A (n.*1979G>A) c.*2022G>A (n.*2022G>A) c.1839G>A (p.Glu613=) c.*1563G>A (n.*1563G>A) c.2355G>A (p.Glu785=) c.1635G>A (p.Glu545=) c.2286G>A (p.Glu762=) c.1113G>A (p.Glu371=) | gnomAD v4 |
| 11 | g.68157992T>A | CA381587814 | KMT5B | c.2141A>T (p.Glu714Val) n.2706A>T c.*1978A>T (n.*1978A>T) c.*2021A>T (n.*2021A>T) c.1838A>T (p.Glu613Val) c.*1562A>T (n.*1562A>T) c.2354A>T (p.Glu785Val) c.1634A>T (p.Glu545Val) c.2285A>T (p.Glu762Val) c.1112A>T (p.Glu371Val) | |
| 11 | g.68157992T>C | CA381587815 | KMT5B | c.2141A>G (p.Glu714Gly) n.2706A>G c.*1978A>G (n.*1978A>G) c.*2021A>G (n.*2021A>G) c.1838A>G (p.Glu613Gly) c.*1562A>G (n.*1562A>G) c.2354A>G (p.Glu785Gly) c.1634A>G (p.Glu545Gly) c.2285A>G (p.Glu762Gly) c.1112A>G (p.Glu371Gly) | |
| 11 | g.68157992T>G | CA381587816 | KMT5B | c.2141A>C (p.Glu714Ala) n.2706A>C c.*1978A>C (n.*1978A>C) c.*2021A>C (n.*2021A>C) c.1838A>C (p.Glu613Ala) c.*1562A>C (n.*1562A>C) c.2354A>C (p.Glu785Ala) c.1634A>C (p.Glu545Ala) c.2285A>C (p.Glu762Ala) c.1112A>C (p.Glu371Ala) | |
| 11 | g.68157993C>A | CA381587819 | KMT5B | c.2140G>T (p.Glu714Ter) n.2705G>T c.*1977G>T (n.*1977G>T) c.*2020G>T (n.*2020G>T) c.1837G>T (p.Glu613Ter) c.*1561G>T (n.*1561G>T) c.2353G>T (p.Glu785Ter) c.1633G>T (p.Glu545Ter) c.2284G>T (p.Glu762Ter) c.1111G>T (p.Glu371Ter) | |
| 11 | g.68157993C>G | CA381587822 | KMT5B | c.2140G>C (p.Glu714Gln) n.2705G>C c.*1977G>C (n.*1977G>C) c.*2020G>C (n.*2020G>C) c.1837G>C (p.Glu613Gln) c.*1561G>C (n.*1561G>C) c.2353G>C (p.Glu785Gln) c.1633G>C (p.Glu545Gln) c.2284G>C (p.Glu762Gln) c.1111G>C (p.Glu371Gln) | |
| 11 | g.68157993C>T | CA381587826 | KMT5B | c.2140G>A (p.Glu714Lys) n.2705G>A c.*1977G>A (n.*1977G>A) c.*2020G>A (n.*2020G>A) c.1837G>A (p.Glu613Lys) c.*1561G>A (n.*1561G>A) c.2353G>A (p.Glu785Lys) c.1633G>A (p.Glu545Lys) c.2284G>A (p.Glu762Lys) c.1111G>A (p.Glu371Lys) | |
| 11 | g.68157994A>C | CA381587831 | KMT5B | c.2139T>G (p.Asp713Glu) n.2704T>G c.*1976T>G (n.*1976T>G) c.*2019T>G (n.*2019T>G) c.1836T>G (p.Asp612Glu) c.*1560T>G (n.*1560T>G) c.2352T>G (p.Asp784Glu) c.1632T>G (p.Asp544Glu) c.2283T>G (p.Asp761Glu) c.1110T>G (p.Asp370Glu) | |
| 11 | g.68157994A>G | CA475514747 | KMT5B | c.2139T>C (p.Asp713=) n.2704T>C c.*1976T>C (n.*1976T>C) c.*2019T>C (n.*2019T>C) c.1836T>C (p.Asp612=) c.*1560T>C (n.*1560T>C) c.2352T>C (p.Asp784=) c.1632T>C (p.Asp544=) c.2283T>C (p.Asp761=) c.1110T>C (p.Asp370=) | gnomAD v4 |
| 11 | g.68157994A>T | CA381587843 | KMT5B | c.2139T>A (p.Asp713Glu) n.2704T>A c.*1976T>A (n.*1976T>A) c.*2019T>A (n.*2019T>A) c.1836T>A (p.Asp612Glu) c.*1560T>A (n.*1560T>A) c.2352T>A (p.Asp784Glu) c.1632T>A (p.Asp544Glu) c.2283T>A (p.Asp761Glu) c.1110T>A (p.Asp370Glu) | |
| 11 | g.68157995T>A | CA381587847 | KMT5B | c.2138A>T (p.Asp713Val) n.2703A>T c.*1975A>T (n.*1975A>T) c.*2018A>T (n.*2018A>T) c.1835A>T (p.Asp612Val) c.*1559A>T (n.*1559A>T) c.2351A>T (p.Asp784Val) c.1631A>T (p.Asp544Val) c.2282A>T (p.Asp761Val) c.1109A>T (p.Asp370Val) | |
| 11 | g.68157995T>C | CA381587854 | KMT5B | c.2138A>G (p.Asp713Gly) n.2703A>G c.*1975A>G (n.*1975A>G) c.*2018A>G (n.*2018A>G) c.1835A>G (p.Asp612Gly) c.*1559A>G (n.*1559A>G) c.2351A>G (p.Asp784Gly) c.1631A>G (p.Asp544Gly) c.2282A>G (p.Asp761Gly) c.1109A>G (p.Asp370Gly) | gnomAD v4 |
| 11 | g.68157995T>G | CA381587852 | KMT5B | c.2138A>C (p.Asp713Ala) n.2703A>C c.*1975A>C (n.*1975A>C) c.*2018A>C (n.*2018A>C) c.1835A>C (p.Asp612Ala) c.*1559A>C (n.*1559A>C) c.2351A>C (p.Asp784Ala) c.1631A>C (p.Asp544Ala) c.2282A>C (p.Asp761Ala) c.1109A>C (p.Asp370Ala) | |
| 11 | g.68157996C>A | CA381587860 | KMT5B | c.2137G>T (p.Asp713Tyr) n.2702G>T c.*1974G>T (n.*1974G>T) c.*2017G>T (n.*2017G>T) c.1834G>T (p.Asp612Tyr) c.*1558G>T (n.*1558G>T) c.2350G>T (p.Asp784Tyr) c.1630G>T (p.Asp544Tyr) c.2281G>T (p.Asp761Tyr) c.1108G>T (p.Asp370Tyr) | |
| 11 | g.68157996C>G | CA381587864 | KMT5B | c.2137G>C (p.Asp713His) n.2702G>C c.*1974G>C (n.*1974G>C) c.*2017G>C (n.*2017G>C) c.1834G>C (p.Asp612His) c.*1558G>C (n.*1558G>C) c.2350G>C (p.Asp784His) c.1630G>C (p.Asp544His) c.2281G>C (p.Asp761His) c.1108G>C (p.Asp370His) | |
| 11 | g.68157996C>T | CA381587862 | KMT5B | c.2137G>A (p.Asp713Asn) n.2702G>A c.*1974G>A (n.*1974G>A) c.*2017G>A (n.*2017G>A) c.1834G>A (p.Asp612Asn) c.*1558G>A (n.*1558G>A) c.2350G>A (p.Asp784Asn) c.1630G>A (p.Asp544Asn) c.2281G>A (p.Asp761Asn) c.1108G>A (p.Asp370Asn) | |
| 11 | g.68157997T>A | CA475514748 | KMT5B | c.2136A>T (p.Arg712=) n.2701A>T c.*1973A>T (n.*1973A>T) c.*2016A>T (n.*2016A>T) c.1833A>T (p.Arg611=) c.*1557A>T (n.*1557A>T) c.2349A>T (p.Arg783=) c.1629A>T (p.Arg543=) c.2280A>T (p.Arg760=) c.1107A>T (p.Arg369=) | |
| 11 | g.68157997T>C | CA475514749 | KMT5B | c.2136A>G (p.Arg712=) n.2701A>G c.*1973A>G (n.*1973A>G) c.*2016A>G (n.*2016A>G) c.1833A>G (p.Arg611=) c.*1557A>G (n.*1557A>G) c.2349A>G (p.Arg783=) c.1629A>G (p.Arg543=) c.2280A>G (p.Arg760=) c.1107A>G (p.Arg369=) | dbSNP |
| 11 | g.68157997T>G | CA475514750 | KMT5B | c.2136A>C (p.Arg712=) n.2701A>C c.*1973A>C (n.*1973A>C) c.*2016A>C (n.*2016A>C) c.1833A>C (p.Arg611=) c.*1557A>C (n.*1557A>C) c.2349A>C (p.Arg783=) c.1629A>C (p.Arg543=) c.2280A>C (p.Arg760=) c.1107A>C (p.Arg369=) | |
| 11 | g.68157997T= | CA1980500375 | KMT5B | c.2136A= (p.Arg712=) n.2701A= c.*1973A= (n.*1973A=) c.*2016A= (n.*2016A=) c.1833A= (p.Arg611=) c.*1557A= (n.*1557A=) c.2349A= (p.Arg783=) c.1629A= (p.Arg543=) c.2280A= (p.Arg760=) c.1107A= (p.Arg369=) | |
| 11 | g.68157998C>A | CA381587866 | KMT5B | c.2135G>T (p.Arg712Leu) n.2700G>T c.*1972G>T (n.*1972G>T) c.*2015G>T (n.*2015G>T) c.1832G>T (p.Arg611Leu) c.*1556G>T (n.*1556G>T) c.2348G>T (p.Arg783Leu) c.1628G>T (p.Arg543Leu) c.2279G>T (p.Arg760Leu) c.1106G>T (p.Arg369Leu) | |
| 11 | g.68157998C= | CA1980500381 | KMT5B | c.2135G= (p.Arg712=) n.2700G= c.*1972G= (n.*1972G=) c.*2015G= (n.*2015G=) c.1832G= (p.Arg611=) c.*1556G= (n.*1556G=) c.2348G= (p.Arg783=) c.1628G= (p.Arg543=) c.2279G= (p.Arg760=) c.1106G= (p.Arg369=) | |
| 11 | g.68157998C>G | CA381587870 | KMT5B | c.2135G>C (p.Arg712Pro) n.2700G>C c.*1972G>C (n.*1972G>C) c.*2015G>C (n.*2015G>C) c.1832G>C (p.Arg611Pro) c.*1556G>C (n.*1556G>C) c.2348G>C (p.Arg783Pro) c.1628G>C (p.Arg543Pro) c.2279G>C (p.Arg760Pro) c.1106G>C (p.Arg369Pro) | gnomAD v4 |
| 11 | g.68157998C>T | CA6148022 | KMT5B | c.2135G>A (p.Arg712Gln) n.2700G>A c.*1972G>A (n.*1972G>A) c.*2015G>A (n.*2015G>A) c.1832G>A (p.Arg611Gln) c.*1556G>A (n.*1556G>A) c.2348G>A (p.Arg783Gln) c.1628G>A (p.Arg543Gln) c.2279G>A (p.Arg760Gln) c.1106G>A (p.Arg369Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68157999G>A | CA381587874 | KMT5B | c.2134C>T (p.Arg712Ter) n.2699C>T c.*1971C>T (n.*1971C>T) c.*2014C>T (n.*2014C>T) c.1831C>T (p.Arg611Ter) c.*1555C>T (n.*1555C>T) c.2347C>T (p.Arg783Ter) c.1627C>T (p.Arg543Ter) c.2278C>T (p.Arg760Ter) c.1105C>T (p.Arg369Ter) | ClinVar dbSNP COSMIC COSMIC |
| 11 | g.68157999G>C | CA381587881 | KMT5B | c.2134C>G (p.Arg712Gly) n.2699C>G c.*1971C>G (n.*1971C>G) c.*2014C>G (n.*2014C>G) c.1831C>G (p.Arg611Gly) c.*1555C>G (n.*1555C>G) c.2347C>G (p.Arg783Gly) c.1627C>G (p.Arg543Gly) c.2278C>G (p.Arg760Gly) c.1105C>G (p.Arg369Gly) | |
| 11 | g.68157999G= | CA1980500390 | KMT5B | c.2134C= (p.Arg712=) n.2699C= c.*1971C= (n.*1971C=) c.*2014C= (n.*2014C=) c.1831C= (p.Arg611=) c.*1555C= (n.*1555C=) c.2347C= (p.Arg783=) c.1627C= (p.Arg543=) c.2278C= (p.Arg760=) c.1105C= (p.Arg369=) | |
| 11 | g.68157999G>T | CA475514751 | KMT5B | c.2134C>A (p.Arg712=) n.2699C>A c.*1971C>A (n.*1971C>A) c.*2014C>A (n.*2014C>A) c.1831C>A (p.Arg611=) c.*1555C>A (n.*1555C>A) c.2347C>A (p.Arg783=) c.1627C>A (p.Arg543=) c.2278C>A (p.Arg760=) c.1105C>A (p.Arg369=) | gnomAD v4 |