| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.107919098C>T | CA256133 | DLD | c.1463C>T (p.Pro488Leu) c.*1137C>T (n.*1137C>T) c.1319C>T (p.Pro440Leu) c.1394C>T (p.Pro465Leu) c.1166C>T (p.Pro389Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107919098C= | CA1732860752 | DLD | c.1463C= (p.Pro488=) c.*1137C= (n.*1137C=) c.1319C= (p.Pro440=) c.1394C= (p.Pro465=) c.1166C= (p.Pro389=) | dbSNP |
| 7 | g.107919098C>G | CA368859564 | DLD | c.1463C>G (p.Pro488Arg) c.*1137C>G (n.*1137C>G) c.1319C>G (p.Pro440Arg) c.1394C>G (p.Pro465Arg) c.1166C>G (p.Pro389Arg) | dbSNP gnomAD v4 |