| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.153952053G>C | CA353443 | HCFC1 | c.5048C>G (p.Pro1683Arg) c.5183C>G (p.Pro1728Arg) c.774C>G c.5180C>G (p.Pro1727Arg) c.5051C>G (p.Pro1684Arg) c.4985C>G (p.Pro1662Arg) c.4274C>G (p.Pro1425Arg) c.4982C>G (p.Pro1661Arg) c.4271C>G (p.Pro1424Arg) | ClinVar dbSNP |
| X | g.153952053G>T | CA415107906 | HCFC1 | c.5048C>A (p.Pro1683His) c.5183C>A (p.Pro1728His) c.774C>A c.5180C>A (p.Pro1727His) c.5051C>A (p.Pro1684His) c.4985C>A (p.Pro1662His) c.4274C>A (p.Pro1425His) c.4982C>A (p.Pro1661His) c.4271C>A (p.Pro1424His) | dbSNP gnomAD v2 gnomAD v4 |