UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23561361T>A | CA503325321 | NPC1 | c.630A>T (p.Ser210=) n.544A>T c.165A>T (p.Ser55=) | |
| 18 | g.23561361T>C | CA8913695 | NPC1 | c.630A>G (p.Ser210=) n.544A>G c.165A>G (p.Ser55=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23561361T>G | CA503325322 | NPC1 | c.630A>C (p.Ser210=) n.544A>C c.165A>C (p.Ser55=) | |
| 18 | g.23561361T= | CA2290176153 | NPC1 | c.630A= (p.Ser210=) n.544A= c.165A= (p.Ser55=) | |
| 18 | g.23561361_23561362delinsTG | CA2290176154 | NPC1 | c.629_630delinsCA (p.Ser210=) n.543_544delinsCA c.164_165delinsCA (p.Ser55=) | |
| 18 | g.23561362del | CA16041921 | NPC1 | c.629del (p.Ser210Ter) n.543del c.164del (p.Ser55Ter) | ClinVar dbSNP |
| 18 | g.23561362G>A | CA401782032 | NPC1 | c.629C>T (p.Ser210Leu) n.543C>T c.164C>T (p.Ser55Leu) | COSMIC |
| 18 | g.23561362G>C | CA401782035 | NPC1 | c.629C>G (p.Ser210Ter) n.543C>G c.164C>G (p.Ser55Ter) | |
| 18 | g.23561362G>T | CA401782037 | NPC1 | c.629C>A (p.Ser210Ter) n.543C>A c.164C>A (p.Ser55Ter) | |
| 18 | g.23561363A= | CA2290176155 | NPC1 | c.628T= (p.Ser210=) n.542T= c.163T= (p.Ser55=) | |
| 18 | g.23561363A>C | CA401782041 | NPC1 | c.628T>G (p.Ser210Ala) n.542T>G c.163T>G (p.Ser55Ala) | dbSNP gnomAD v4 |
| 18 | g.23561363A>G | CA401782043 | NPC1 | c.628T>C (p.Ser210Pro) n.542T>C c.163T>C (p.Ser55Pro) | |
| 18 | g.23561363A>T | CA401782049 | NPC1 | c.628T>A (p.Ser210Thr) n.542T>A c.163T>A (p.Ser55Thr) | |
| 18 | g.23561364A>C | CA401782051 | NPC1 | c.627T>G (p.Phe209Leu) n.541T>G c.162T>G (p.Phe54Leu) | |
| 18 | g.23561364A>G | CA503325323 | NPC1 | c.627T>C (p.Phe209=) n.541T>C c.162T>C (p.Phe54=) | |
| 18 | g.23561364A>T | CA401782052 | NPC1 | c.627T>A (p.Phe209Leu) n.541T>A c.162T>A (p.Phe54Leu) | |
| 18 | g.23561365A>C | CA401782053 | NPC1 | c.626T>G (p.Phe209Cys) n.540T>G c.161T>G (p.Phe54Cys) | |
| 18 | g.23561365A>G | CA401782054 | NPC1 | c.626T>C (p.Phe209Ser) n.540T>C c.161T>C (p.Phe54Ser) | |
| 18 | g.23561365A>T | CA401782057 | NPC1 | c.626T>A (p.Phe209Tyr) n.540T>A c.161T>A (p.Phe54Tyr) | |
| 18 | g.23561366A>C | CA401782061 | NPC1 | c.625T>G (p.Phe209Val) n.539T>G c.160T>G (p.Phe54Val) | |
| 18 | g.23561366A>G | CA401782065 | NPC1 | c.625T>C (p.Phe209Leu) n.539T>C c.160T>C (p.Phe54Leu) | |
| 18 | g.23561366A>T | CA401782063 | NPC1 | c.625T>A (p.Phe209Ile) n.539T>A c.160T>A (p.Phe54Ile) | |
| 18 | g.23561367C>A | CA503325326 | NPC1 | c.624G>T (p.Val208=) n.538G>T c.159G>T (p.Val53=) | |
| 18 | g.23561367C>G | CA503325325 | NPC1 | c.624G>C (p.Val208=) n.538G>C c.159G>C (p.Val53=) | |
| 18 | g.23561367C>T | CA503325324 | NPC1 | c.624G>A (p.Val208=) n.538G>A c.159G>A (p.Val53=) | |
| 18 | g.23561368A>C | CA401782067 | NPC1 | c.623T>G (p.Val208Gly) n.537T>G c.158T>G (p.Val53Gly) | |
| 18 | g.23561368A>G | CA401782069 | NPC1 | c.623T>C (p.Val208Ala) n.537T>C c.158T>C (p.Val53Ala) | gnomAD v4 |
| 18 | g.23561368A>T | CA401782070 | NPC1 | c.623T>A (p.Val208Glu) n.537T>A c.158T>A (p.Val53Glu) | |
| 18 | g.23561369C>A | CA401782072 | NPC1 | c.622G>T (p.Val208Leu) n.536G>T c.157G>T (p.Val53Leu) | ClinVar |
| 18 | g.23561369C= | CA2290176156 | NPC1 | c.622G= (p.Val208=) n.536G= c.157G= (p.Val53=) | |
| 18 | g.23561369C>G | CA297075220 | NPC1 | c.622G>C (p.Val208Leu) n.536G>C c.157G>C (p.Val53Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23561369C>T | CA401782073 | NPC1 | c.622G>A (p.Val208Met) n.536G>A c.157G>A (p.Val53Met) | gnomAD v4 |
| 18 | g.23561370A>C | CA503325327 | NPC1 | c.621T>G (p.Pro207=) n.535T>G c.156T>G (p.Pro52=) | |
| 18 | g.23561370A>G | CA503325328 | NPC1 | c.621T>C (p.Pro207=) n.535T>C c.156T>C (p.Pro52=) | |
| 18 | g.23561370A>T | CA503325329 | NPC1 | c.621T>A (p.Pro207=) n.535T>A c.156T>A (p.Pro52=) | |
| 18 | g.23561371G>A | CA401782074 | NPC1 | c.620C>T (p.Pro207Leu) n.534C>T c.155C>T (p.Pro52Leu) | ClinVar dbSNP gnomAD v4 COSMIC |
| 18 | g.23561371G>C | CA401782076 | NPC1 | c.620C>G (p.Pro207Arg) n.534C>G c.155C>G (p.Pro52Arg) | |
| 18 | g.23561371G= | CA2290176158 | NPC1 | c.620C= (p.Pro207=) n.534C= c.155C= (p.Pro52=) | |
| 18 | g.23561371G>T | CA401782077 | NPC1 | c.620C>A (p.Pro207His) n.534C>A c.155C>A (p.Pro52His) | |
| 18 | g.23561371_23561375delinsGGAGT | CA2290176157 | NPC1 | c.616_620delinsACTCC (p.Thr206=) n.530_534delinsACTCC c.151_155delinsACTCC (p.Thr51=) | |
| 18 | g.23561372G>A | CA401782078 | NPC1 | c.619C>T (p.Pro207Ser) n.533C>T c.154C>T (p.Pro52Ser) | ClinVar gnomAD v4 COSMIC |
| 18 | g.23561372G>C | CA401782081 | NPC1 | c.619C>G (p.Pro207Ala) n.533C>G c.154C>G (p.Pro52Ala) | |
| 18 | g.23561372G>T | CA401782083 | NPC1 | c.619C>A (p.Pro207Thr) n.533C>A c.154C>A (p.Pro52Thr) | |
| 18 | g.23561374_23561377del | CA628978914 | NPC1 | c.616_619del (p.Thr206LeufsTer14) n.530_533del c.151_154del (p.Thr51LeufsTer14) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.23561373A>C | CA503325330 | NPC1 | c.618T>G (p.Thr206=) n.532T>G c.153T>G (p.Thr51=) | |
| 18 | g.23561373A>G | CA503325331 | NPC1 | c.618T>C (p.Thr206=) n.532T>C c.153T>C (p.Thr51=) | |
| 18 | g.23561373A>T | CA503325332 | NPC1 | c.618T>A (p.Thr206=) n.532T>A c.153T>A (p.Thr51=) | |
| 18 | g.23561374G>A | CA401782092 | NPC1 | c.617C>T (p.Thr206Ile) n.531C>T c.152C>T (p.Thr51Ile) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 18 | g.23561374G>C | CA401782086 | NPC1 | c.617C>G (p.Thr206Ser) n.531C>G c.152C>G (p.Thr51Ser) | |
| 18 | g.23561374G= | CA2290176159 | NPC1 | c.617C= (p.Thr206=) n.531C= c.152C= (p.Thr51=) |