| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.149793609G>T | CA366015829 | PCMT1 | c.358G>T (p.Val120Leu) c.*357G>T (n.*357G>T) c.*538G>T (n.*538G>T) c.532G>T (p.Val178Leu) c.427G>T (p.Val143Leu) c.741G>T c.265G>T (p.Val89Leu) c.343G>T (p.Val115Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.149793609G>C | CA366015828 | PCMT1 | c.358G>C (p.Val120Leu) c.*357G>C (n.*357G>C) c.*538G>C (n.*538G>C) c.532G>C (p.Val178Leu) c.427G>C (p.Val143Leu) c.741G>C c.265G>C (p.Val89Leu) c.343G>C (p.Val115Leu) | dbSNP |
| 6 | g.149793609G>A | CA4044535 | PCMT1 | c.358G>A (p.Val120Ile) c.*357G>A (n.*357G>A) c.*538G>A (n.*538G>A) c.532G>A (p.Val178Ile) c.427G>A (p.Val143Ile) c.741G>A c.265G>A (p.Val89Ile) c.343G>A (p.Val115Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |