| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.122001371G>A | CA129477 | ILDR1 | c.583C>T (p.Gln195Ter) n.665C>T c.379+3873C>T (n.379+3873C>T) n.704C>T c.619C>T (p.Gln207Ter) c.178C>T (p.Gln60Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122001371G= | CA1397754223 | ILDR1 | c.583C= (p.Gln195=) n.665C= c.379+3873C= (n.379+3873C=) n.704C= c.619C= (p.Gln207=) c.178C= (p.Gln60=) | dbSNP |