| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.45179427C>A | CA308943148 | BLOC1S3,MARK4 | c.131C>A (p.Ser44Ter) c.-276-79562C>A (n.-276-79562C>A) n.635C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.45179427C>G | CA406344197 | BLOC1S3,MARK4 | c.131C>G (p.Ser44Trp) c.-276-79562C>G (n.-276-79562C>G) n.635C>G | dbSNP gnomAD v4 |
| 19 | g.45179427C= | CA2338302562 | BLOC1S3,MARK4 | c.131C= (p.Ser44=) c.-276-79562C= (n.-276-79562C=) n.635C= | dbSNP |
| 19 | g.45179427C>T | CA406344198 | BLOC1S3,MARK4 | c.131C>T (p.Ser44Leu) c.-276-79562C>T (n.-276-79562C>T) n.635C>T | dbSNP gnomAD v4 |