| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.6468378C>G | CA144676 | PLEKHG5 | c.2458G>C (p.Gly820Arg) c.2632G>C (p.Gly878Arg) c.2569G>C (p.Gly857Arg) n.2934G>C c.2665G>C (p.Gly889Arg) c.2755G>C (p.Gly919Arg) c.*2670G>C (n.*2670G>C) c.2250-485G>C (n.2250-485G>C) c.*2286G>C (n.*2286G>C) c.331G>C (p.Gly111Arg) c.2481-485G>C (n.2481-485G>C) c.2689G>C (p.Gly897Arg) c.2626G>C (p.Gly876Arg) n.1660G>C c.2695G>C (p.Gly899Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6468378C>T | CA561151 | PLEKHG5 | c.2458G>A (p.Gly820Ser) c.2632G>A (p.Gly878Ser) c.2569G>A (p.Gly857Ser) n.2934G>A c.2665G>A (p.Gly889Ser) c.2755G>A (p.Gly919Ser) c.*2670G>A (n.*2670G>A) c.2250-485G>A (n.2250-485G>A) c.*2286G>A (n.*2286G>A) c.331G>A (p.Gly111Ser) c.2481-485G>A (n.2481-485G>A) c.2689G>A (p.Gly897Ser) c.2626G>A (p.Gly876Ser) n.1660G>A c.2695G>A (p.Gly899Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |