| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23540506C>A | CA16043892 | NPC1 | c.2546G>T (p.Ser849Ile) n.2460G>T n.337G>T c.1624G>T c.2597G>T (p.Ser866Ile) c.2132G>T (p.Ser711Ile) | ClinVar dbSNP |
| 18 | g.23540506C= | CA2290166261 | NPC1 | c.2546G= (p.Ser849=) n.2460G= n.337G= c.1624G= c.2597G= (p.Ser866=) c.2132G= (p.Ser711=) | dbSNP |
| 18 | g.23540506C>T | CA401793191 | NPC1 | c.2546G>A (p.Ser849Asn) n.2460G>A n.337G>A c.1624G>A c.2597G>A (p.Ser866Asn) c.2132G>A (p.Ser711Asn) | dbSNP gnomAD v4 COSMIC COSMIC |