| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.44513639A>G | CA4241386 | NPC1L1 | c.3807T>C (p.Val1269=) c.3888T>C (p.Val1296=) c.3669T>C (p.Val1223=) c.3612T>C (p.Val1204=) c.2166T>C (p.Val722=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44513639A= | CA1630834748 | NPC1L1 | c.3807T= (p.Val1269=) c.3888T= (p.Val1296=) c.3669T= (p.Val1223=) c.3612T= (p.Val1204=) c.2166T= (p.Val722=) | dbSNP |