| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23560468del | CA2499225069 | NPC1 | c.644del (p.His215LeufsTer6) n.558del c.179del (p.His60LeufsTer6) | ClinVar dbSNP |
| 18 | g.23560468T>A | CA401781438 | NPC1 | c.644A>T (p.His215Leu) n.558A>T c.179A>T (p.His60Leu) | |
| 18 | g.23560468T>C | CA145970 | NPC1 | c.644A>G (p.His215Arg) n.558A>G c.179A>G (p.His60Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23560468T>G | CA401781439 | NPC1 | c.644A>C (p.His215Pro) n.558A>C c.179A>C (p.His60Pro) | |
| 18 | g.23560468T= | CA2290175769 | NPC1 | c.644A= (p.His215=) n.558A= c.179A= (p.His60=) | |
| 18 | g.23560469G>A | CA8913673 | NPC1 | c.643C>T (p.His215Tyr) n.557C>T c.178C>T (p.His60Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23560469G>C | CA401781440 | NPC1 | c.643C>G (p.His215Asp) n.557C>G c.178C>G (p.His60Asp) | |
| 18 | g.23560469G= | CA2290175770 | NPC1 | c.643C= (p.His215=) n.557C= c.178C= (p.His60=) | |
| 18 | g.23560469G>T | CA401781441 | NPC1 | c.643C>A (p.His215Asn) n.557C>A c.178C>A (p.His60Asn) | gnomAD v4 |
| 18 | g.23560470del | CA2641272440 | NPC1 | c.643del (p.His215MetfsTer6) n.557del c.178del (p.His60MetfsTer6) | gnomAD v4 |
| 18 | g.23560470G>A | CA503522188 | NPC1 | c.642C>T (p.Val214=) n.556C>T c.177C>T (p.Val59=) | gnomAD v4 |
| 18 | g.23560470G>C | CA503522189 | NPC1 | c.642C>G (p.Val214=) n.556C>G c.177C>G (p.Val59=) | |
| 18 | g.23560470G>T | CA503522190 | NPC1 | c.642C>A (p.Val214=) n.556C>A c.177C>A (p.Val59=) | gnomAD v4 |
| 18 | g.23560471A>C | CA401781442 | NPC1 | c.641T>G (p.Val214Gly) n.555T>G c.176T>G (p.Val59Gly) | |
| 18 | g.23560471A>G | CA401781443 | NPC1 | c.641T>C (p.Val214Ala) n.555T>C c.176T>C (p.Val59Ala) | |
| 18 | g.23560471A>T | CA401781444 | NPC1 | c.641T>A (p.Val214Asp) n.555T>A c.176T>A (p.Val59Asp) | |
| 18 | g.23560472C>A | CA401781445 | NPC1 | c.640G>T (p.Val214Phe) n.554G>T c.175G>T (p.Val59Phe) | |
| 18 | g.23560472C>G | CA401781446 | NPC1 | c.640G>C (p.Val214Leu) n.554G>C c.175G>C (p.Val59Leu) | |
| 18 | g.23560472C>T | CA401781447 | NPC1 | c.640G>A (p.Val214Ile) n.554G>A c.175G>A (p.Val59Ile) | |
| 18 | g.23560472_23560482del | CA2641272446 | NPC1 | c.632-2_640del n.546-2_554del c.167-2_175del | gnomAD v4 |
| 18 | g.23560473T>A | CA503522191 | NPC1 | c.639A>T (p.Pro213=) n.553A>T c.174A>T (p.Pro58=) | |
| 18 | g.23560473T>C | CA503522192 | NPC1 | c.639A>G (p.Pro213=) n.553A>G c.174A>G (p.Pro58=) | |
| 18 | g.23560473T>G | CA503522193 | NPC1 | c.639A>C (p.Pro213=) n.553A>C c.174A>C (p.Pro58=) | |
| 18 | g.23560474G>A | CA401781450 | NPC1 | c.638C>T (p.Pro213Leu) n.552C>T c.173C>T (p.Pro58Leu) | gnomAD v4 |
| 18 | g.23560474G>C | CA401781449 | NPC1 | c.638C>G (p.Pro213Arg) n.552C>G c.173C>G (p.Pro58Arg) | |
| 18 | g.23560474G>T | CA401781448 | NPC1 | c.638C>A (p.Pro213Gln) n.552C>A c.173C>A (p.Pro58Gln) | |
| 18 | g.23560475G>A | CA8913674 | NPC1 | c.637C>T (p.Pro213Ser) n.551C>T c.172C>T (p.Pro58Ser) | dbSNP ExAC gnomAD v4 |
| 18 | g.23560475G>C | CA401781451 | NPC1 | c.637C>G (p.Pro213Ala) n.551C>G c.172C>G (p.Pro58Ala) | gnomAD v4 |
| 18 | g.23560475G= | CA2290175771 | NPC1 | c.637C= (p.Pro213=) n.551C= c.172C= (p.Pro58=) | |
| 18 | g.23560475G>T | CA297074783 | NPC1 | c.637C>A (p.Pro213Thr) n.551C>A c.172C>A (p.Pro58Thr) | dbSNP gnomAD v4 |
| 18 | g.23560476A>C | CA401781452 | NPC1 | c.636T>G (p.Phe212Leu) n.550T>G c.171T>G (p.Phe57Leu) | |
| 18 | g.23560476A>G | CA503522194 | NPC1 | c.636T>C (p.Phe212=) n.550T>C c.171T>C (p.Phe57=) | |
| 18 | g.23560476A>T | CA401781453 | NPC1 | c.636T>A (p.Phe212Leu) n.550T>A c.171T>A (p.Phe57Leu) | |
| 18 | g.23560479del | CA2695227254 | NPC1 | c.636del (p.Pro213GlnfsTer8) n.550del c.171del (p.Pro58GlnfsTer8) | |
| 18 | g.23560477A>C | CA401781454 | NPC1 | c.635T>G (p.Phe212Cys) n.549T>G c.170T>G (p.Phe57Cys) | |
| 18 | g.23560477A>G | CA401781455 | NPC1 | c.635T>C (p.Phe212Ser) n.549T>C c.170T>C (p.Phe57Ser) | gnomAD v4 |
| 18 | g.23560477A>T | CA401781456 | NPC1 | c.635T>A (p.Phe212Tyr) n.549T>A c.170T>A (p.Phe57Tyr) | |
| 18 | g.23560478A>C | CA401781457 | NPC1 | c.634T>G (p.Phe212Val) n.548T>G c.169T>G (p.Phe57Val) | |
| 18 | g.23560478A>G | CA401781458 | NPC1 | c.634T>C (p.Phe212Leu) n.548T>C c.169T>C (p.Phe57Leu) | |
| 18 | g.23560478A>T | CA401781459 | NPC1 | c.634T>A (p.Phe212Ile) n.548T>A c.169T>A (p.Phe57Ile) | |
| 18 | g.23560479A>C | CA401781461 | NPC1 | c.633T>G (p.Asp211Glu) n.547T>G c.168T>G (p.Asp56Glu) | |
| 18 | g.23560479A>G | CA503522195 | NPC1 | c.633T>C (p.Asp211=) n.547T>C c.168T>C (p.Asp56=) | |
| 18 | g.23560479A>T | CA401781460 | NPC1 | c.633T>A (p.Asp211Glu) n.547T>A c.168T>A (p.Asp56Glu) | |
| 18 | g.23560480T>A | CA401781462 | NPC1 | c.632A>T (p.Asp211Val) n.546A>T c.167A>T (p.Asp56Val) | |
| 18 | g.23560480T>C | CA401781463 | NPC1 | c.632A>G (p.Asp211Gly) n.546A>G c.167A>G (p.Asp56Gly) | |
| 18 | g.23560480T>G | CA401781464 | NPC1 | c.632A>C (p.Asp211Ala) n.546A>C c.167A>C (p.Asp56Ala) | |
| 18 | g.23560481C>A | CA401781465 | NPC1 | c.632-1G>T (n.632-1G>T) n.546-1G>T c.167-1G>T (n.167-1G>T) | |
| 18 | g.23560481C>G | CA401781466 | NPC1 | c.632-1G>C (n.632-1G>C) n.546-1G>C c.167-1G>C (n.167-1G>C) | |
| 18 | g.23560481C>T | CA401781467 | NPC1 | c.632-1G>A (n.632-1G>A) n.546-1G>A c.167-1G>A (n.167-1G>A) | |
| 18 | g.23560482T>A | CA401781468 | NPC1 | c.632-2A>T (n.632-2A>T) n.546-2A>T c.167-2A>T (n.167-2A>T) |