| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.6430929G>C | CA5399077 | PRKCQ | c.1846C>G (p.Arg616Gly) c.1657C>G (p.Arg553Gly) c.1471C>G (p.Arg491Gly) c.1738C>G (p.Arg580Gly) c.1948C>G (p.Arg650Gly) c.1939-2567C>G (n.1939-2567C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.6430929G>A | CA375943071 | PRKCQ | c.1846C>T (p.Arg616Ter) c.1657C>T (p.Arg553Ter) c.1471C>T (p.Arg491Ter) c.1738C>T (p.Arg580Ter) c.1948C>T (p.Arg650Ter) c.1939-2567C>T (n.1939-2567C>T) | dbSNP gnomAD v4 |
| 10 | g.6430929G>T | CA5399076 | PRKCQ | c.1846C>A (p.Arg616=) c.1657C>A (p.Arg553=) c.1471C>A (p.Arg491=) c.1738C>A (p.Arg580=) c.1948C>A (p.Arg650=) c.1939-2567C>A (n.1939-2567C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |