| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.44516100A>T | CA115648 | NPC1L1 | c.3617T>A (p.Ile1206Asn) c.3698T>A (p.Ile1233Asn) c.3479T>A (p.Ile1160Asn) c.3422T>A (p.Ile1141Asn) c.1976T>A (p.Ile659Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44516100A= | CA1703791578 | NPC1L1 | c.3617T= (p.Ile1206=) c.3698T= (p.Ile1233=) c.3479T= (p.Ile1160=) c.3422T= (p.Ile1141=) c.1976T= (p.Ile659=) | dbSNP |