| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.133071212C>A | CA467814029 | CEL | c.1710C>A (p.Pro570=) c.1719C>A (p.Pro573=) c.*710C>A (n.*710C>A) | dbSNP |
| 9 | g.133071212C>G | CA467814028 | CEL | c.1710C>G (p.Pro570=) c.1719C>G (p.Pro573=) c.*710C>G (n.*710C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133071212C>T | CA152286 | CEL | c.1710C>T (p.Pro570=) c.1719C>T (p.Pro573=) c.*710C>T (n.*710C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |