| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.75582098A>T | CA455709958 | HIP1 | c.519T>A (p.Ala173=) c.432T>A (p.Ala144=) c.417T>A (p.Ala139=) c.477T>A (p.Ala159=) | dbSNP |
| 7 | g.75582098A>G | CA4302602 | HIP1 | c.519T>C (p.Ala173=) c.432T>C (p.Ala144=) c.417T>C (p.Ala139=) c.477T>C (p.Ala159=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.75582098A>C | CA455709951 | HIP1 | c.519T>G (p.Ala173=) c.432T>G (p.Ala144=) c.417T>G (p.Ala139=) c.477T>G (p.Ala159=) | dbSNP |