WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23544952_23544953insCCCCCCCCCCCCCCCCCCACCCCCCCCC | CA988383517 | NPC1 | c.1947+19_1947+20insGGGGGGGGGGGGGGGGGGGGGGGGGTGG (n.1947+19_1947+20insGGGGGGGGGGGGGGGGGGGGGGGGGTGG) n.1861+19_1861+20insGGGGGGGGGGGGGGGGGGGGGGGGGTGG c.1025+19_1025+20insGGGGGGGGGGGGGGGGGGGGGGGGGTGG c.1998+19_1998+20insGGGGGGGGGGGGGGGGGGGGGGGGGTGG (n.1998+19_1998+20insGGGGGGGGGGGGGGGGGGGGGGGGGTGG) c.1533+19_1533+20insGGGGGGGGGGGGGGGGGGGGGGGGGTGG (n.1533+19_1533+20insGGGGGGGGGGGGGGGGGGGGGGGGGTGG) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23544950_23544951insACCCCCCCCCCCCCCCCC | CA988383686 | NPC1 | c.1947+16_1947+17insGGGGGGGGGGTGGGGGGG (n.1947+16_1947+17insGGGGGGGGGGTGGGGGGG) n.1861+16_1861+17insGGGGGGGGGGTGGGGGGG c.1025+16_1025+17insGGGGGGGGGGTGGGGGGG c.1998+16_1998+17insGGGGGGGGGGTGGGGGGG (n.1998+16_1998+17insGGGGGGGGGGTGGGGGGG) c.1533+16_1533+17insGGGGGGGGGGTGGGGGGG (n.1533+16_1533+17insGGGGGGGGGGTGGGGGGG) | gnomAD v3 gnomAD v4 |
| 18 | g.23544952_23544953insCCCCCCCCCC | CA988383680 | NPC1 | c.1947+16_1947+17insGGGGGGGGGG (n.1947+16_1947+17insGGGGGGGGGG) n.1861+16_1861+17insGGGGGGGGGG c.1025+16_1025+17insGGGGGGGGGG c.1998+16_1998+17insGGGGGGGGGG (n.1998+16_1998+17insGGGGGGGGGG) c.1533+16_1533+17insGGGGGGGGGG (n.1533+16_1533+17insGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
| 18 | g.23544952_23544953insCCCCCCCCCCC | CA988383678 | NPC1 | c.1947+16_1947+17insGGGGGGGGGGG (n.1947+16_1947+17insGGGGGGGGGGG) n.1861+16_1861+17insGGGGGGGGGGG c.1025+16_1025+17insGGGGGGGGGGG c.1998+16_1998+17insGGGGGGGGGGG (n.1998+16_1998+17insGGGGGGGGGGG) c.1533+16_1533+17insGGGGGGGGGGG (n.1533+16_1533+17insGGGGGGGGGGG) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23544952_23544953insCCCCCCCCCCCC | CA988383677 | NPC1 | c.1947+16_1947+17insGGGGGGGGGGGG (n.1947+16_1947+17insGGGGGGGGGGGG) n.1861+16_1861+17insGGGGGGGGGGGG c.1025+16_1025+17insGGGGGGGGGGGG c.1998+16_1998+17insGGGGGGGGGGGG (n.1998+16_1998+17insGGGGGGGGGGGG) c.1533+16_1533+17insGGGGGGGGGGGG (n.1533+16_1533+17insGGGGGGGGGGGG) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23544952_23544953insCCCCCCCCCCCCC | CA988383676 | NPC1 | c.1947+16_1947+17insGGGGGGGGGGGGG (n.1947+16_1947+17insGGGGGGGGGGGGG) n.1861+16_1861+17insGGGGGGGGGGGGG c.1025+16_1025+17insGGGGGGGGGGGGG c.1998+16_1998+17insGGGGGGGGGGGGG (n.1998+16_1998+17insGGGGGGGGGGGGG) c.1533+16_1533+17insGGGGGGGGGGGGG (n.1533+16_1533+17insGGGGGGGGGGGGG) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23544952_23544953insCCCCCCCCCCCCCC | CA988383652 | NPC1 | c.1947+16_1947+17insGGGGGGGGGGGGGG (n.1947+16_1947+17insGGGGGGGGGGGGGG) n.1861+16_1861+17insGGGGGGGGGGGGGG c.1025+16_1025+17insGGGGGGGGGGGGGG c.1998+16_1998+17insGGGGGGGGGGGGGG (n.1998+16_1998+17insGGGGGGGGGGGGGG) c.1533+16_1533+17insGGGGGGGGGGGGGG (n.1533+16_1533+17insGGGGGGGGGGGGGG) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23544952_23544953insCCCCCCCCCCCCCCC | CA988383653 | NPC1 | c.1947+16_1947+17insGGGGGGGGGGGGGGG (n.1947+16_1947+17insGGGGGGGGGGGGGGG) n.1861+16_1861+17insGGGGGGGGGGGGGGG c.1025+16_1025+17insGGGGGGGGGGGGGGG c.1998+16_1998+17insGGGGGGGGGGGGGGG (n.1998+16_1998+17insGGGGGGGGGGGGGGG) c.1533+16_1533+17insGGGGGGGGGGGGGGG (n.1533+16_1533+17insGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
| 18 | g.23544952_23544953insCCCCCGCCCCCCCCC | CA2641277860 | NPC1 | c.1947+16_1947+17insCGGGGGGGGGGGGGG (n.1947+16_1947+17insCGGGGGGGGGGGGGG) n.1861+16_1861+17insCGGGGGGGGGGGGGG c.1025+16_1025+17insCGGGGGGGGGGGGGG c.1998+16_1998+17insCGGGGGGGGGGGGGG (n.1998+16_1998+17insCGGGGGGGGGGGGGG) c.1533+16_1533+17insCGGGGGGGGGGGGGG (n.1533+16_1533+17insCGGGGGGGGGGGGGG) | gnomAD v4 |
| 18 | g.23544952_23544953insCCCCCCCCCCCCCCCC | CA988383654 | NPC1 | c.1947+16_1947+17insGGGGGGGGGGGGGGGG (n.1947+16_1947+17insGGGGGGGGGGGGGGGG) n.1861+16_1861+17insGGGGGGGGGGGGGGGG c.1025+16_1025+17insGGGGGGGGGGGGGGGG c.1998+16_1998+17insGGGGGGGGGGGGGGGG (n.1998+16_1998+17insGGGGGGGGGGGGGGGG) c.1533+16_1533+17insGGGGGGGGGGGGGGGG (n.1533+16_1533+17insGGGGGGGGGGGGGGGG) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23544952_23544953insCCCCCCCCCCCCCCCCC | CA988383655 | NPC1 | c.1947+16_1947+17insGGGGGGGGGGGGGGGGG (n.1947+16_1947+17insGGGGGGGGGGGGGGGGG) n.1861+16_1861+17insGGGGGGGGGGGGGGGGG c.1025+16_1025+17insGGGGGGGGGGGGGGGGG c.1998+16_1998+17insGGGGGGGGGGGGGGGGG (n.1998+16_1998+17insGGGGGGGGGGGGGGGGG) c.1533+16_1533+17insGGGGGGGGGGGGGGGGG (n.1533+16_1533+17insGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
| 18 | g.23544952_23544953insCCCCCCCCCCCCCCCCCC | CA988383657 | NPC1 | c.1947+16_1947+17insGGGGGGGGGGGGGGGGGG (n.1947+16_1947+17insGGGGGGGGGGGGGGGGGG) n.1861+16_1861+17insGGGGGGGGGGGGGGGGGG c.1025+16_1025+17insGGGGGGGGGGGGGGGGGG c.1998+16_1998+17insGGGGGGGGGGGGGGGGGG (n.1998+16_1998+17insGGGGGGGGGGGGGGGGGG) c.1533+16_1533+17insGGGGGGGGGGGGGGGGGG (n.1533+16_1533+17insGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
| 18 | g.23544952_23544953insCCCCCCCCTCCCCCCCCC | CA2641277855 | NPC1 | c.1947+16_1947+17insAGGGGGGGGGGGGGGGGG (n.1947+16_1947+17insAGGGGGGGGGGGGGGGGG) n.1861+16_1861+17insAGGGGGGGGGGGGGGGGG c.1025+16_1025+17insAGGGGGGGGGGGGGGGGG c.1998+16_1998+17insAGGGGGGGGGGGGGGGGG (n.1998+16_1998+17insAGGGGGGGGGGGGGGGGG) c.1533+16_1533+17insAGGGGGGGGGGGGGGGGG (n.1533+16_1533+17insAGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 18 | g.23544952_23544953insCCCCCCCCCCCCCCCCCCC | CA2641278120 | NPC1 | c.1947+16_1947+17insGGGGGGGGGGGGGGGGGGG (n.1947+16_1947+17insGGGGGGGGGGGGGGGGGGG) n.1861+16_1861+17insGGGGGGGGGGGGGGGGGGG c.1025+16_1025+17insGGGGGGGGGGGGGGGGGGG c.1998+16_1998+17insGGGGGGGGGGGGGGGGGGG (n.1998+16_1998+17insGGGGGGGGGGGGGGGGGGG) c.1533+16_1533+17insGGGGGGGGGGGGGGGGGGG (n.1533+16_1533+17insGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 18 | g.23544952_23544953insCCCCCCCCCCCCCCCCCCCC | CA2641278121 | NPC1 | c.1947+16_1947+17insGGGGGGGGGGGGGGGGGGGG (n.1947+16_1947+17insGGGGGGGGGGGGGGGGGGGG) n.1861+16_1861+17insGGGGGGGGGGGGGGGGGGGG c.1025+16_1025+17insGGGGGGGGGGGGGGGGGGGG c.1998+16_1998+17insGGGGGGGGGGGGGGGGGGGG (n.1998+16_1998+17insGGGGGGGGGGGGGGGGGGGG) c.1533+16_1533+17insGGGGGGGGGGGGGGGGGGGG (n.1533+16_1533+17insGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 18 | g.23544952_23544953insCCCCCCCCCCCCCCCCCCCCC | CA988383661 | NPC1 | c.1947+16_1947+17insGGGGGGGGGGGGGGGGGGGGG (n.1947+16_1947+17insGGGGGGGGGGGGGGGGGGGGG) n.1861+16_1861+17insGGGGGGGGGGGGGGGGGGGGG c.1025+16_1025+17insGGGGGGGGGGGGGGGGGGGGG c.1998+16_1998+17insGGGGGGGGGGGGGGGGGGGGG (n.1998+16_1998+17insGGGGGGGGGGGGGGGGGGGGG) c.1533+16_1533+17insGGGGGGGGGGGGGGGGGGGGG (n.1533+16_1533+17insGGGGGGGGGGGGGGGGGGGGG) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23544952_23544953insCCCCCCCCCTCCCCCCCCCCC | CA988383716 | NPC1 | c.1947+16_1947+17insGGAGGGGGGGGGGGGGGGGGG (n.1947+16_1947+17insGGAGGGGGGGGGGGGGGGGGG) n.1861+16_1861+17insGGAGGGGGGGGGGGGGGGGGG c.1025+16_1025+17insGGAGGGGGGGGGGGGGGGGGG c.1998+16_1998+17insGGAGGGGGGGGGGGGGGGGGG (n.1998+16_1998+17insGGAGGGGGGGGGGGGGGGGGG) c.1533+16_1533+17insGGAGGGGGGGGGGGGGGGGGG (n.1533+16_1533+17insGGAGGGGGGGGGGGGGGGGGG) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23544952_23544953insCCCCCCCCCCCCCCCCCCCCCC | CA2641278123 | NPC1 | c.1947+16_1947+17insGGGGGGGGGGGGGGGGGGGGGG (n.1947+16_1947+17insGGGGGGGGGGGGGGGGGGGGGG) n.1861+16_1861+17insGGGGGGGGGGGGGGGGGGGGGG c.1025+16_1025+17insGGGGGGGGGGGGGGGGGGGGGG c.1998+16_1998+17insGGGGGGGGGGGGGGGGGGGGGG (n.1998+16_1998+17insGGGGGGGGGGGGGGGGGGGGGG) c.1533+16_1533+17insGGGGGGGGGGGGGGGGGGGGGG (n.1533+16_1533+17insGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 18 | g.23544952_23544953insCCCCCCCCCCCCCCCCCCCCCCC | CA2641278125 | NPC1 | c.1947+16_1947+17insGGGGGGGGGGGGGGGGGGGGGGG (n.1947+16_1947+17insGGGGGGGGGGGGGGGGGGGGGGG) n.1861+16_1861+17insGGGGGGGGGGGGGGGGGGGGGGG c.1025+16_1025+17insGGGGGGGGGGGGGGGGGGGGGGG c.1998+16_1998+17insGGGGGGGGGGGGGGGGGGGGGGG (n.1998+16_1998+17insGGGGGGGGGGGGGGGGGGGGGGG) c.1533+16_1533+17insGGGGGGGGGGGGGGGGGGGGGGG (n.1533+16_1533+17insGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 18 | g.23544952_23544953insCCCCCCCCCCTCCCCCCCCCCCC | CA988383675 | NPC1 | c.1947+16_1947+17insGGGAGGGGGGGGGGGGGGGGGGG (n.1947+16_1947+17insGGGAGGGGGGGGGGGGGGGGGGG) n.1861+16_1861+17insGGGAGGGGGGGGGGGGGGGGGGG c.1025+16_1025+17insGGGAGGGGGGGGGGGGGGGGGGG c.1998+16_1998+17insGGGAGGGGGGGGGGGGGGGGGGG (n.1998+16_1998+17insGGGAGGGGGGGGGGGGGGGGGGG) c.1533+16_1533+17insGGGAGGGGGGGGGGGGGGGGGGG (n.1533+16_1533+17insGGGAGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
| 18 | g.23544952_23544953insCCCCCCCCCCCCCCCCCCCCCCCC | CA2641278126 | NPC1 | c.1947+16_1947+17insGGGGGGGGGGGGGGGGGGGGGGGG (n.1947+16_1947+17insGGGGGGGGGGGGGGGGGGGGGGGG) n.1861+16_1861+17insGGGGGGGGGGGGGGGGGGGGGGGG c.1025+16_1025+17insGGGGGGGGGGGGGGGGGGGGGGGG c.1998+16_1998+17insGGGGGGGGGGGGGGGGGGGGGGGG (n.1998+16_1998+17insGGGGGGGGGGGGGGGGGGGGGGGG) c.1533+16_1533+17insGGGGGGGGGGGGGGGGGGGGGGGG (n.1533+16_1533+17insGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 18 | g.23544952_23544953insCCCCCCCCCCCCCACAAGCCCCCCCCCC | CA2641278124 | NPC1 | c.1947+16_1947+17insGCTTGTGGGGGGGGGGGGGGGGGGGGGG (n.1947+16_1947+17insGCTTGTGGGGGGGGGGGGGGGGGGGGGG) n.1861+16_1861+17insGCTTGTGGGGGGGGGGGGGGGGGGGGGG c.1025+16_1025+17insGCTTGTGGGGGGGGGGGGGGGGGGGGGG c.1998+16_1998+17insGCTTGTGGGGGGGGGGGGGGGGGGGGGG (n.1998+16_1998+17insGCTTGTGGGGGGGGGGGGGGGGGGGGGG) c.1533+16_1533+17insGCTTGTGGGGGGGGGGGGGGGGGGGGGG (n.1533+16_1533+17insGCTTGTGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 18 | g.23544952_23544953insCCCCCCCCCCCCCCCCCCCCCCCCCCCC | CA2641278134 | NPC1 | c.1947+16_1947+17insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1947+16_1947+17insGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.1861+16_1861+17insGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.1025+16_1025+17insGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.1998+16_1998+17insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1998+16_1998+17insGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1533+16_1533+17insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1533+16_1533+17insGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 18 | g.23544952_23544953insCCCCCCCCCCCCCCCCACCCCCCCCCCCC | CA2641278130 | NPC1 | c.1947+16_1947+17insGGGTGGGGGGGGGGGGGGGGGGGGGGGGG (n.1947+16_1947+17insGGGTGGGGGGGGGGGGGGGGGGGGGGGGG) n.1861+16_1861+17insGGGTGGGGGGGGGGGGGGGGGGGGGGGGG c.1025+16_1025+17insGGGTGGGGGGGGGGGGGGGGGGGGGGGGG c.1998+16_1998+17insGGGTGGGGGGGGGGGGGGGGGGGGGGGGG (n.1998+16_1998+17insGGGTGGGGGGGGGGGGGGGGGGGGGGGGG) c.1533+16_1533+17insGGGTGGGGGGGGGGGGGGGGGGGGGGGGG (n.1533+16_1533+17insGGGTGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 18 | g.23544952_23544953insCCCCCCCCCCCCCCACCCCCCCCCCCCCC | CA2641278119 | NPC1 | c.1947+16_1947+17insGGGGGTGGGGGGGGGGGGGGGGGGGGGGG (n.1947+16_1947+17insGGGGGTGGGGGGGGGGGGGGGGGGGGGGG) n.1861+16_1861+17insGGGGGTGGGGGGGGGGGGGGGGGGGGGGG c.1025+16_1025+17insGGGGGTGGGGGGGGGGGGGGGGGGGGGGG c.1998+16_1998+17insGGGGGTGGGGGGGGGGGGGGGGGGGGGGG (n.1998+16_1998+17insGGGGGTGGGGGGGGGGGGGGGGGGGGGGG) c.1533+16_1533+17insGGGGGTGGGGGGGGGGGGGGGGGGGGGGG (n.1533+16_1533+17insGGGGGTGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 18 | g.23544952_23544953insCCCCCCCCCCCCCCCCCACCCCCCCCCCC | CA2641278132 | NPC1 | c.1947+16_1947+17insGGTGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1947+16_1947+17insGGTGGGGGGGGGGGGGGGGGGGGGGGGGG) n.1861+16_1861+17insGGTGGGGGGGGGGGGGGGGGGGGGGGGGG c.1025+16_1025+17insGGTGGGGGGGGGGGGGGGGGGGGGGGGGG c.1998+16_1998+17insGGTGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1998+16_1998+17insGGTGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1533+16_1533+17insGGTGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1533+16_1533+17insGGTGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 18 | g.23544952_23544953insCCCCCCCCCCCCCCCCACCCCCCCCCCCCC | CA2641278131 | NPC1 | c.1947+16_1947+17insGGGGTGGGGGGGGGGGGGGGGGGGGGGGGG (n.1947+16_1947+17insGGGGTGGGGGGGGGGGGGGGGGGGGGGGGG) n.1861+16_1861+17insGGGGTGGGGGGGGGGGGGGGGGGGGGGGGG c.1025+16_1025+17insGGGGTGGGGGGGGGGGGGGGGGGGGGGGGG c.1998+16_1998+17insGGGGTGGGGGGGGGGGGGGGGGGGGGGGGG (n.1998+16_1998+17insGGGGTGGGGGGGGGGGGGGGGGGGGGGGGG) c.1533+16_1533+17insGGGGTGGGGGGGGGGGGGGGGGGGGGGGGG (n.1533+16_1533+17insGGGGTGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 18 | g.23544952_23544953insCCCCCCCCCCCCCCCCCACCCCCCCCCCCC | CA2641278133 | NPC1 | c.1947+16_1947+17insGGGTGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1947+16_1947+17insGGGTGGGGGGGGGGGGGGGGGGGGGGGGGG) n.1861+16_1861+17insGGGTGGGGGGGGGGGGGGGGGGGGGGGGGG c.1025+16_1025+17insGGGTGGGGGGGGGGGGGGGGGGGGGGGGGG c.1998+16_1998+17insGGGTGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1998+16_1998+17insGGGTGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1533+16_1533+17insGGGTGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1533+16_1533+17insGGGTGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 18 | g.23544952_23544953insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC | CA2641277851 | NPC1 | c.1947+16_1947+17insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1947+16_1947+17insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.1861+16_1861+17insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.1025+16_1025+17insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.1998+16_1998+17insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1998+16_1998+17insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1533+16_1533+17insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1533+16_1533+17insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 18 | g.23544952_23544953insCCCCCCCCCCCCCCCCCCCCACCCCCCCCCC | CA2641277819 | NPC1 | c.1947+16_1947+17insGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1947+16_1947+17insGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.1861+16_1861+17insGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.1025+16_1025+17insGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.1998+16_1998+17insGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1998+16_1998+17insGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1533+16_1533+17insGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1533+16_1533+17insGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 18 | g.23544952_23544953insCCCCCCCCCCCCCCCCACCCCCCCCCCCCCC | CA988383663 | NPC1 | c.1947+16_1947+17insGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGG (n.1947+16_1947+17insGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGG) n.1861+16_1861+17insGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGG c.1025+16_1025+17insGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGG c.1998+16_1998+17insGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGG (n.1998+16_1998+17insGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGG) c.1533+16_1533+17insGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGG (n.1533+16_1533+17insGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGG) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23544952_23544953insCCCCCCCCCCCCCCCCCACCCCCCCCCCCCC | CA2510835534 | NPC1 | c.1947+16_1947+17insGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1947+16_1947+17insGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGG) n.1861+16_1861+17insGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGG c.1025+16_1025+17insGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGG c.1998+16_1998+17insGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1998+16_1998+17insGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1533+16_1533+17insGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1533+16_1533+17insGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGG) | |
| 18 | g.23544952_23544953insCCCCCCCCCCCCCCCCAGCCCCCCCCCCCCC | CA988383664 | NPC1 | c.1947+16_1947+17insGGGGCTGGGGGGGGGGGGGGGGGGGGGGGGG (n.1947+16_1947+17insGGGGCTGGGGGGGGGGGGGGGGGGGGGGGGG) n.1861+16_1861+17insGGGGCTGGGGGGGGGGGGGGGGGGGGGGGGG c.1025+16_1025+17insGGGGCTGGGGGGGGGGGGGGGGGGGGGGGGG c.1998+16_1998+17insGGGGCTGGGGGGGGGGGGGGGGGGGGGGGGG (n.1998+16_1998+17insGGGGCTGGGGGGGGGGGGGGGGGGGGGGGGG) c.1533+16_1533+17insGGGGCTGGGGGGGGGGGGGGGGGGGGGGGGG (n.1533+16_1533+17insGGGGCTGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
| 18 | g.23544952_23544953insCCCCCCCCCCCCACCAACCCCCCCCCCCCCC | CA2641278122 | NPC1 | c.1947+16_1947+17insGGGGGTTGGTGGGGGGGGGGGGGGGGGGGGG (n.1947+16_1947+17insGGGGGTTGGTGGGGGGGGGGGGGGGGGGGGG) n.1861+16_1861+17insGGGGGTTGGTGGGGGGGGGGGGGGGGGGGGG c.1025+16_1025+17insGGGGGTTGGTGGGGGGGGGGGGGGGGGGGGG c.1998+16_1998+17insGGGGGTTGGTGGGGGGGGGGGGGGGGGGGGG (n.1998+16_1998+17insGGGGGTTGGTGGGGGGGGGGGGGGGGGGGGG) c.1533+16_1533+17insGGGGGTTGGTGGGGGGGGGGGGGGGGGGGGG (n.1533+16_1533+17insGGGGGTTGGTGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 18 | g.23544952_23544953insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC | CA988383650 | NPC1 | c.1947+16_1947+17insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1947+16_1947+17insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.1861+16_1861+17insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.1025+16_1025+17insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.1998+16_1998+17insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1998+16_1998+17insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1533+16_1533+17insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1533+16_1533+17insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
| 18 | g.23544952_23544953insCCCCCCCCCCTCCCCAACACCCCCCCCCCCCC | CA2641277852 | NPC1 | c.1947+16_1947+17insGGGGTGTTGGGGAGGGGGGGGGGGGGGGGGGG (n.1947+16_1947+17insGGGGTGTTGGGGAGGGGGGGGGGGGGGGGGGG) n.1861+16_1861+17insGGGGTGTTGGGGAGGGGGGGGGGGGGGGGGGG c.1025+16_1025+17insGGGGTGTTGGGGAGGGGGGGGGGGGGGGGGGG c.1998+16_1998+17insGGGGTGTTGGGGAGGGGGGGGGGGGGGGGGGG (n.1998+16_1998+17insGGGGTGTTGGGGAGGGGGGGGGGGGGGGGGGG) c.1533+16_1533+17insGGGGTGTTGGGGAGGGGGGGGGGGGGGGGGGG (n.1533+16_1533+17insGGGGTGTTGGGGAGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 18 | g.23544952_23544953insCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCC | CA988383667 | NPC1 | c.1947+16_1947+17insGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1947+16_1947+17insGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGG) n.1861+16_1861+17insGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGG c.1025+16_1025+17insGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGG c.1998+16_1998+17insGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1998+16_1998+17insGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1533+16_1533+17insGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1533+16_1533+17insGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGG) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23544952_23544953insCCCCCCCCCCCCCCCACAAAAACCCCCCCCCCC | CA2641278128 | NPC1 | c.1947+16_1947+17insGGTTTTTGTGGGGGGGGGGGGGGGGGGGGGGGG (n.1947+16_1947+17insGGTTTTTGTGGGGGGGGGGGGGGGGGGGGGGGG) n.1861+16_1861+17insGGTTTTTGTGGGGGGGGGGGGGGGGGGGGGGGG c.1025+16_1025+17insGGTTTTTGTGGGGGGGGGGGGGGGGGGGGGGGG c.1998+16_1998+17insGGTTTTTGTGGGGGGGGGGGGGGGGGGGGGGGG (n.1998+16_1998+17insGGTTTTTGTGGGGGGGGGGGGGGGGGGGGGGGG) c.1533+16_1533+17insGGTTTTTGTGGGGGGGGGGGGGGGGGGGGGGGG (n.1533+16_1533+17insGGTTTTTGTGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 18 | g.23544952_23544953insCCCCCCCCCCCCCCCCAACCCCCCCCCCCCCCCC | CA2641277849 | NPC1 | c.1947+16_1947+17insGGGGGGGTTGGGGGGGGGGGGGGGGGGGGGGGGG (n.1947+16_1947+17insGGGGGGGTTGGGGGGGGGGGGGGGGGGGGGGGGG) n.1861+16_1861+17insGGGGGGGTTGGGGGGGGGGGGGGGGGGGGGGGGG c.1025+16_1025+17insGGGGGGGTTGGGGGGGGGGGGGGGGGGGGGGGGG c.1998+16_1998+17insGGGGGGGTTGGGGGGGGGGGGGGGGGGGGGGGGG (n.1998+16_1998+17insGGGGGGGTTGGGGGGGGGGGGGGGGGGGGGGGGG) c.1533+16_1533+17insGGGGGGGTTGGGGGGGGGGGGGGGGGGGGGGGGG (n.1533+16_1533+17insGGGGGGGTTGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 18 | g.23544952_23544953insCCCCCCCCCCCCCCACACCCCCCCCCCCCCCCCC | CA2556066960 | NPC1 | c.1947+16_1947+17insGGGGGGGGTGTGGGGGGGGGGGGGGGGGGGGGGG (n.1947+16_1947+17insGGGGGGGGTGTGGGGGGGGGGGGGGGGGGGGGGG) n.1861+16_1861+17insGGGGGGGGTGTGGGGGGGGGGGGGGGGGGGGGGG c.1025+16_1025+17insGGGGGGGGTGTGGGGGGGGGGGGGGGGGGGGGGG c.1998+16_1998+17insGGGGGGGGTGTGGGGGGGGGGGGGGGGGGGGGGG (n.1998+16_1998+17insGGGGGGGGTGTGGGGGGGGGGGGGGGGGGGGGGG) c.1533+16_1533+17insGGGGGGGGTGTGGGGGGGGGGGGGGGGGGGGGGG (n.1533+16_1533+17insGGGGGGGGTGTGGGGGGGGGGGGGGGGGGGGGGG) | |
| 18 | g.23544952_23544953insCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCCCCC | CA2641278116 | NPC1 | c.1947+16_1947+17insGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1947+16_1947+17insGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGG) n.1861+16_1861+17insGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGG c.1025+16_1025+17insGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGG c.1998+16_1998+17insGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1998+16_1998+17insGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1533+16_1533+17insGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1533+16_1533+17insGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 18 | g.23544952_23544953insCCCCCCCCCCCCCCCCAACCCCCCCCCCCCCCCCCCCCCCC | CA2641278129 | NPC1 | c.1947+16_1947+17insGGGGGGGGGGGGGGTTGGGGGGGGGGGGGGGGGGGGGGGGG (n.1947+16_1947+17insGGGGGGGGGGGGGGTTGGGGGGGGGGGGGGGGGGGGGGGGG) n.1861+16_1861+17insGGGGGGGGGGGGGGTTGGGGGGGGGGGGGGGGGGGGGGGGG c.1025+16_1025+17insGGGGGGGGGGGGGGTTGGGGGGGGGGGGGGGGGGGGGGGGG c.1998+16_1998+17insGGGGGGGGGGGGGGTTGGGGGGGGGGGGGGGGGGGGGGGGG (n.1998+16_1998+17insGGGGGGGGGGGGGGTTGGGGGGGGGGGGGGGGGGGGGGGGG) c.1533+16_1533+17insGGGGGGGGGGGGGGTTGGGGGGGGGGGGGGGGGGGGGGGGG (n.1533+16_1533+17insGGGGGGGGGGGGGGTTGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 18 | g.23544952_23544953insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC | CA988383670 | NPC1 | c.1947+16_1947+17insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1947+16_1947+17insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.1861+16_1861+17insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.1025+16_1025+17insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.1998+16_1998+17insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1998+16_1998+17insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1533+16_1533+17insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1533+16_1533+17insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
| 18 | g.23544952_23544953insCCCCCCCCCCCCCCCAAACCCCCCCCACCACTTTTTTTTCCCCCCCCCCC | CA2641278127 | NPC1 | c.1947+16_1947+17insGGAAAAAAAAGTGGTGGGGGGGGTTTGGGGGGGGGGGGGGGGGGGGGGGG (n.1947+16_1947+17insGGAAAAAAAAGTGGTGGGGGGGGTTTGGGGGGGGGGGGGGGGGGGGGGGG) n.1861+16_1861+17insGGAAAAAAAAGTGGTGGGGGGGGTTTGGGGGGGGGGGGGGGGGGGGGGGG c.1025+16_1025+17insGGAAAAAAAAGTGGTGGGGGGGGTTTGGGGGGGGGGGGGGGGGGGGGGGG c.1998+16_1998+17insGGAAAAAAAAGTGGTGGGGGGGGTTTGGGGGGGGGGGGGGGGGGGGGGGG (n.1998+16_1998+17insGGAAAAAAAAGTGGTGGGGGGGGTTTGGGGGGGGGGGGGGGGGGGGGGGG) c.1533+16_1533+17insGGAAAAAAAAGTGGTGGGGGGGGTTTGGGGGGGGGGGGGGGGGGGGGGGG (n.1533+16_1533+17insGGAAAAAAAAGTGGTGGGGGGGGTTTGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 18 | g.23544952_23544953insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCCCACCCCCCCCCCCCCC | CA988383673 | NPC1 | c.1947+16_1947+17insGGGGGTGGGGGAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1947+16_1947+17insGGGGGTGGGGGAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.1861+16_1861+17insGGGGGTGGGGGAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.1025+16_1025+17insGGGGGTGGGGGAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.1998+16_1998+17insGGGGGTGGGGGAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1998+16_1998+17insGGGGGTGGGGGAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1533+16_1533+17insGGGGGTGGGGGAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1533+16_1533+17insGGGGGTGGGGGAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
| 18 | g.23544952dup | CA200891 | NPC1 | c.1947+16dup (n.1947+16dup) n.1861+16dup c.1025+16dup c.1998+16dup (n.1998+16dup) c.1533+16dup (n.1533+16dup) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23544951_23544952dup | CA297060273 | NPC1 | c.1947+15_1947+16dup (n.1947+15_1947+16dup) n.1861+15_1861+16dup c.1025+15_1025+16dup c.1998+15_1998+16dup (n.1998+15_1998+16dup) c.1533+15_1533+16dup (n.1533+15_1533+16dup) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.23544950_23544952dup | CA16620668 | NPC1 | c.1947+14_1947+16dup (n.1947+14_1947+16dup) n.1861+14_1861+16dup c.1025+14_1025+16dup c.1998+14_1998+16dup (n.1998+14_1998+16dup) c.1533+14_1533+16dup (n.1533+14_1533+16dup) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23544949_23544952dup | CA145954 | NPC1 | c.1947+13_1947+16dup (n.1947+13_1947+16dup) n.1861+13_1861+16dup c.1025+13_1025+16dup c.1998+13_1998+16dup (n.1998+13_1998+16dup) c.1533+13_1533+16dup (n.1533+13_1533+16dup) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23544948_23544952dup | CA297060278 | NPC1 | c.1947+12_1947+16dup (n.1947+12_1947+16dup) n.1861+12_1861+16dup c.1025+12_1025+16dup c.1998+12_1998+16dup (n.1998+12_1998+16dup) c.1533+12_1533+16dup (n.1533+12_1533+16dup) | ClinVar dbSNP gnomAD v3 gnomAD v4 |