| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23533497_23533500del | CA252504 | NPC1 | c.3611_3614del (p.Leu1204GlnfsTer?) c.366_369del n.135_138del n.1294_1297del c.20_23del (p.Leu7GlnfsTer?) c.2689_2692del c.288_291del c.3662_3665del (p.Leu1221GlnfsTer?) c.3197_3200del (p.Leu1066GlnfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23533497_23533500dup | CA297076058 | NPC1 | c.3611_3614dup (p.Lys1206TyrfsTer?) c.366_369dup n.135_138dup n.1294_1297dup c.20_23dup (p.Lys9TyrfsTer?) c.2689_2692dup c.288_291dup c.3662_3665dup (p.Lys1223TyrfsTer?) c.3197_3200dup (p.Lys1068TyrfsTer?) | dbSNP |