| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.94619305C>T | CA7329879 | SERPINA3 | c.754C>T (p.Pro252Ser) c.100C>T (p.Pro34Ser) c.1717C>T n.58-3036C>T c.644-3036C>T (n.644-3036C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94619305C>G | CA127757 | SERPINA3 | c.754C>G (p.Pro252Ala) c.100C>G (p.Pro34Ala) c.1717C>G n.58-3036C>G c.644-3036C>G (n.644-3036C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94619305C= | CA2156074086 | SERPINA3 | c.754C= (p.Pro252=) c.100C= (p.Pro34=) c.1717C= n.58-3036C= c.644-3036C= (n.644-3036C=) | dbSNP |
| 14 | g.94619305C>A | CA390855844 | SERPINA3 | c.754C>A (p.Pro252Thr) c.100C>A (p.Pro34Thr) c.1717C>A n.58-3036C>A c.644-3036C>A (n.644-3036C>A) | dbSNP gnomAD v4 |