Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.94378133C>A | CA10645405 | SERPINA1 | c.*316G>T (n.*316G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94378133C>T | CA265860499 | SERPINA1 | c.*316G>A (n.*316G>A) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94378133C= | CA2155953195 | SERPINA1 | c.*316G= (n.*316G=) | dbSNP |