| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.157206479C>A | CA4067889 | ARID1B | c.5548C>A (p.Gln1850Lys) c.5617C>A (p.Gln1873Lys) c.5836C>A (p.Gln1946Lys) c.5587C>A (p.Gln1863Lys) c.5299C>A (p.Gln1767Lys) c.3865C>A (p.Gln1289Lys) c.3028C>A (p.Gln1010Lys) c.2659C>A (p.Gln887Lys) n.4170C>A n.1627C>A c.5707C>A (p.Gln1903Lys) n.3704C>A c.3075C>A c.2989C>A n.2373C>A c.3049C>A (p.Gln1017Lys) c.3208C>A (p.Gln1070Lys) n.2822C>A c.5338C>A (p.Gln1780Lys) c.5458C>A (p.Gln1820Lys) c.4537C>A (p.Gln1513Lys) c.4357C>A (p.Gln1453Lys) c.4117C>A (p.Gln1373Lys) c.3736C>A (p.Gln1246Lys) c.2599C>A (p.Gln867Lys) c.5668C>A (p.Gln1890Lys) c.5569C>A (p.Gln1857Lys) c.5539C>A (p.Gln1847Lys) c.5509C>A (p.Gln1837Lys) c.5380C>A (p.Gln1794Lys) c.5359C>A (p.Gln1787Lys) n.5654C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.157206479C>T | CA10602933 | ARID1B | c.5548C>T (p.Gln1850Ter) c.5617C>T (p.Gln1873Ter) c.5836C>T (p.Gln1946Ter) c.5587C>T (p.Gln1863Ter) c.5299C>T (p.Gln1767Ter) c.3865C>T (p.Gln1289Ter) c.3028C>T (p.Gln1010Ter) c.2659C>T (p.Gln887Ter) n.4170C>T n.1627C>T c.5707C>T (p.Gln1903Ter) n.3704C>T c.3075C>T c.2989C>T n.2373C>T c.3049C>T (p.Gln1017Ter) c.3208C>T (p.Gln1070Ter) n.2822C>T c.5338C>T (p.Gln1780Ter) c.5458C>T (p.Gln1820Ter) c.4537C>T (p.Gln1513Ter) c.4357C>T (p.Gln1453Ter) c.4117C>T (p.Gln1373Ter) c.3736C>T (p.Gln1246Ter) c.2599C>T (p.Gln867Ter) c.5668C>T (p.Gln1890Ter) c.5569C>T (p.Gln1857Ter) c.5539C>T (p.Gln1847Ter) c.5509C>T (p.Gln1837Ter) c.5380C>T (p.Gln1794Ter) c.5359C>T (p.Gln1787Ter) n.5654C>T | ClinVar dbSNP |
| 6 | g.157206479C= | CA1675530424 | ARID1B | c.5548C= (p.Gln1850=) c.5617C= (p.Gln1873=) c.5836C= (p.Gln1946=) c.5587C= (p.Gln1863=) c.5299C= (p.Gln1767=) c.3865C= (p.Gln1289=) c.3028C= (p.Gln1010=) c.2659C= (p.Gln887=) n.4170C= n.1627C= c.5707C= (p.Gln1903=) n.3704C= c.3075C= c.2989C= n.2373C= c.3049C= (p.Gln1017=) c.3208C= (p.Gln1070=) n.2822C= c.5338C= (p.Gln1780=) c.5458C= (p.Gln1820=) c.4537C= (p.Gln1513=) c.4357C= (p.Gln1453=) c.4117C= (p.Gln1373=) c.3736C= (p.Gln1246=) c.2599C= (p.Gln867=) c.5668C= (p.Gln1890=) c.5569C= (p.Gln1857=) c.5539C= (p.Gln1847=) c.5509C= (p.Gln1837=) c.5380C= (p.Gln1794=) c.5359C= (p.Gln1787=) n.5654C= | dbSNP |