| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5233032G>C | CA124667 | HBD | c.376C>G (p.Gln126Glu) c.316-234C>G (n.316-234C>G) c.153C>G (p.His51Gln) | ClinVar dbSNP |
| 11 | g.5233032G>T | CA379276538 | HBD | c.376C>A (p.Gln126Lys) c.316-234C>A (n.316-234C>A) c.153C>A (p.His51Gln) | dbSNP |
| 11 | g.5233032G= | CA1949563655 | HBD | c.376C= (p.Gln126=) c.316-234C= (n.316-234C=) c.153C= (p.His51=) | dbSNP |