| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.55222341G>A | CA444185382 | MCIDAS | c.441C>T (p.Cys147=) c.445C>T (p.Arg149Ter) n.378C>T c.48C>T (p.Cys16=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.55222341G>T | CA346957 | MCIDAS | c.441C>A (p.Cys147Ter) c.445C>A (p.Arg149=) n.378C>A c.48C>A (p.Cys16Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |