| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5234196G>T | CA124699 | HBD | c.110C>A (p.Pro37His) c.92+146C>A (n.92+146C>A) | ClinVar dbSNP COSMIC |
| 11 | g.5234196G= | CA1949565384 | HBD | c.110C= (p.Pro37=) c.92+146C= (n.92+146C=) | dbSNP |
| 11 | g.5234196G>A | CA379277127 | HBD | c.110C>T (p.Pro37Leu) c.92+146C>T (n.92+146C>T) | dbSNP gnomAD v4 |