| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.182894535A>C | CA111758746 | DCTD | c.315T>G (p.Val105=) c.348T>G (p.Val116=) c.*53T>G (n.*53T>G) c.*325T>G (n.*325T>G) c.138T>G (p.Val46=) | dbSNP |
| 4 | g.182894535A>T | CA111758744 | DCTD | c.315T>A (p.Val105=) c.348T>A (p.Val116=) c.*53T>A (n.*53T>A) c.*325T>A (n.*325T>A) c.138T>A (p.Val46=) | dbSNP gnomAD v4 |
| 4 | g.182894535A>G | CA3149181 | DCTD | c.315T>C (p.Val105=) c.348T>C (p.Val116=) c.*53T>C (n.*53T>C) c.*325T>C (n.*325T>C) c.138T>C (p.Val46=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |