| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23539985T>A | CA275049 | NPC1 | c.2621A>T (p.Asp874Val) n.2535A>T n.412A>T c.1699A>T c.2672A>T (p.Asp891Val) c.2207A>T (p.Asp736Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23539985T>C | CA401793012 | NPC1 | c.2621A>G (p.Asp874Gly) n.2535A>G n.412A>G c.1699A>G c.2672A>G (p.Asp891Gly) c.2207A>G (p.Asp736Gly) | |
| 18 | g.23539985T>G | CA401793013 | NPC1 | c.2621A>C (p.Asp874Ala) n.2535A>C n.412A>C c.1699A>C c.2672A>C (p.Asp891Ala) c.2207A>C (p.Asp736Ala) | |
| 18 | g.23539985T= | CA2290165980 | NPC1 | c.2621A= (p.Asp874=) n.2535A= n.412A= c.1699A= c.2672A= (p.Asp891=) c.2207A= (p.Asp736=) | |
| 18 | g.23539986C>A | CA401793014 | NPC1 | c.2620G>T (p.Asp874Tyr) n.2534G>T n.411G>T c.1698G>T c.2671G>T (p.Asp891Tyr) c.2206G>T (p.Asp736Tyr) | |
| 18 | g.23539986C>G | CA401793016 | NPC1 | c.2620G>C (p.Asp874His) n.2534G>C n.411G>C c.1698G>C c.2671G>C (p.Asp891His) c.2206G>C (p.Asp736His) | |
| 18 | g.23539986C>T | CA401793015 | NPC1 | c.2620G>A (p.Asp874Asn) n.2534G>A n.411G>A c.1698G>A c.2671G>A (p.Asp891Asn) c.2206G>A (p.Asp736Asn) | |
| 18 | g.23539987C>A | CA503322683 | NPC1 | c.2619G>T (p.Val873=) n.2533G>T n.410G>T c.1697G>T c.2670G>T (p.Val890=) c.2205G>T (p.Val735=) | |
| 18 | g.23539987C= | CA2290165981 | NPC1 | c.2619G= (p.Val873=) n.2533G= n.410G= c.1697G= c.2670G= (p.Val890=) c.2205G= (p.Val735=) | |
| 18 | g.23539987C>G | CA503322684 | NPC1 | c.2619G>C (p.Val873=) n.2533G>C n.410G>C c.1697G>C c.2670G>C (p.Val890=) c.2205G>C (p.Val735=) | |
| 18 | g.23539987C>T | CA503322685 | NPC1 | c.2619G>A (p.Val873=) n.2533G>A n.410G>A c.1697G>A c.2670G>A (p.Val890=) c.2205G>A (p.Val735=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23539988A>C | CA401793017 | NPC1 | c.2618T>G (p.Val873Gly) n.2532T>G n.409T>G c.1696T>G c.2669T>G (p.Val890Gly) c.2204T>G (p.Val735Gly) | |
| 18 | g.23539988A>G | CA401793019 | NPC1 | c.2618T>C (p.Val873Ala) n.2532T>C n.409T>C c.1696T>C c.2669T>C (p.Val890Ala) c.2204T>C (p.Val735Ala) | |
| 18 | g.23539988A>T | CA401793018 | NPC1 | c.2618T>A (p.Val873Glu) n.2532T>A n.409T>A c.1696T>A c.2669T>A (p.Val890Glu) c.2204T>A (p.Val735Glu) | |
| 18 | g.23539989C>A | CA401793020 | NPC1 | c.2617G>T (p.Val873Leu) n.2531G>T n.408G>T c.1695G>T c.2668G>T (p.Val890Leu) c.2203G>T (p.Val735Leu) | |
| 18 | g.23539989C= | CA2290165982 | NPC1 | c.2617G= (p.Val873=) n.2531G= n.408G= c.1695G= c.2668G= (p.Val890=) c.2203G= (p.Val735=) | |
| 18 | g.23539989C>G | CA401793021 | NPC1 | c.2617G>C (p.Val873Leu) n.2531G>C n.408G>C c.1695G>C c.2668G>C (p.Val890Leu) c.2203G>C (p.Val735Leu) | |
| 18 | g.23539989C>T | CA401793022 | NPC1 | c.2617G>A (p.Val873Met) n.2531G>A n.408G>A c.1695G>A c.2668G>A (p.Val890Met) c.2203G>A (p.Val735Met) | ClinVar dbSNP |
| 18 | g.23539990C>A | CA401793023 | NPC1 | c.2616G>T (p.Met872Ile) n.2530G>T n.407G>T c.1694G>T c.2667G>T (p.Met889Ile) c.2202G>T (p.Met734Ile) | |
| 18 | g.23539990C= | CA2290165983 | NPC1 | c.2616G= (p.Met872=) n.2530G= n.407G= c.1694G= c.2667G= (p.Met889=) c.2202G= (p.Met734=) | |
| 18 | g.23539990C>G | CA401793024 | NPC1 | c.2616G>C (p.Met872Ile) n.2530G>C n.407G>C c.1694G>C c.2667G>C (p.Met889Ile) c.2202G>C (p.Met734Ile) | dbSNP |
| 18 | g.23539990C>T | CA401793025 | NPC1 | c.2616G>A (p.Met872Ile) n.2530G>A n.407G>A c.1694G>A c.2667G>A (p.Met889Ile) c.2202G>A (p.Met734Ile) | |
| 18 | g.23539991A= | CA2290165984 | NPC1 | c.2615T= (p.Met872=) n.2529T= n.406T= c.1693T= c.2666T= (p.Met889=) c.2201T= (p.Met734=) | |
| 18 | g.23539991A>C | CA401793028 | NPC1 | c.2615T>G (p.Met872Arg) n.2529T>G n.406T>G c.1693T>G c.2666T>G (p.Met889Arg) c.2201T>G (p.Met734Arg) | |
| 18 | g.23539991A>G | CA401793026 | NPC1 | c.2615T>C (p.Met872Thr) n.2529T>C n.406T>C c.1693T>C c.2666T>C (p.Met889Thr) c.2201T>C (p.Met734Thr) | dbSNP |
| 18 | g.23539991A>T | CA401793027 | NPC1 | c.2615T>A (p.Met872Lys) n.2529T>A n.406T>A c.1693T>A c.2666T>A (p.Met889Lys) c.2201T>A (p.Met734Lys) | |
| 18 | g.23539992T>A | CA401793029 | NPC1 | c.2614A>T (p.Met872Leu) n.2528A>T n.405A>T c.1692A>T c.2665A>T (p.Met889Leu) c.2200A>T (p.Met734Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23539992T>C | CA8913012 | NPC1 | c.2614A>G (p.Met872Val) n.2528A>G n.405A>G c.1692A>G c.2665A>G (p.Met889Val) c.2200A>G (p.Met734Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23539992T>G | CA401793030 | NPC1 | c.2614A>C (p.Met872Leu) n.2528A>C n.405A>C c.1692A>C c.2665A>C (p.Met889Leu) c.2200A>C (p.Met734Leu) | |
| 18 | g.23539992T= | CA2290165985 | NPC1 | c.2614A= (p.Met872=) n.2528A= n.405A= c.1692A= c.2665A= (p.Met889=) c.2200A= (p.Met734=) | |
| 18 | g.23539993G>A | CA503322686 | NPC1 | c.2613C>T (p.Tyr871=) n.2527C>T n.404C>T c.1691C>T c.2664C>T (p.Tyr888=) c.2199C>T (p.Tyr733=) | ClinVar |
| 18 | g.23539993G>C | CA401793031 | NPC1 | c.2613C>G (p.Tyr871Ter) n.2527C>G n.404C>G c.1691C>G c.2664C>G (p.Tyr888Ter) c.2199C>G (p.Tyr733Ter) | |
| 18 | g.23539993G>T | CA401793032 | NPC1 | c.2613C>A (p.Tyr871Ter) n.2527C>A n.404C>A c.1691C>A c.2664C>A (p.Tyr888Ter) c.2199C>A (p.Tyr733Ter) | |
| 18 | g.23539994del | CA2580095536 | NPC1 | c.2612del (p.Tyr871SerfsTer?) n.2526del n.403del c.1690del c.2663del (p.Tyr888SerfsTer?) c.2198del (p.Tyr733SerfsTer?) | ClinVar |
| 18 | g.23539994T>A | CA401793033 | NPC1 | c.2612A>T (p.Tyr871Phe) n.2526A>T n.403A>T c.1690A>T c.2663A>T (p.Tyr888Phe) c.2198A>T (p.Tyr733Phe) | |
| 18 | g.23539994T>C | CA401793035 | NPC1 | c.2612A>G (p.Tyr871Cys) n.2526A>G n.403A>G c.1690A>G c.2663A>G (p.Tyr888Cys) c.2198A>G (p.Tyr733Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23539994T>G | CA401793034 | NPC1 | c.2612A>C (p.Tyr871Ser) n.2526A>C n.403A>C c.1690A>C c.2663A>C (p.Tyr888Ser) c.2198A>C (p.Tyr733Ser) | |
| 18 | g.23539994T= | CA2290165986 | NPC1 | c.2612A= (p.Tyr871=) n.2526A= n.403A= c.1690A= c.2663A= (p.Tyr888=) c.2198A= (p.Tyr733=) | |
| 18 | g.23539995A>C | CA401793036 | NPC1 | c.2611T>G (p.Tyr871Asp) n.2525T>G n.402T>G c.1689T>G c.2662T>G (p.Tyr888Asp) c.2197T>G (p.Tyr733Asp) | gnomAD v4 |
| 18 | g.23539995A>G | CA401793037 | NPC1 | c.2611T>C (p.Tyr871His) n.2525T>C n.402T>C c.1689T>C c.2662T>C (p.Tyr888His) c.2197T>C (p.Tyr733His) | |
| 18 | g.23539995A>T | CA401793038 | NPC1 | c.2611T>A (p.Tyr871Asn) n.2525T>A n.402T>A c.1689T>A c.2662T>A (p.Tyr888Asn) c.2197T>A (p.Tyr733Asn) | |
| 18 | g.23539996G>A | CA503322687 | NPC1 | c.2610C>T (p.Ser870=) n.2524C>T n.401C>T c.1688C>T c.2661C>T (p.Ser887=) c.2196C>T (p.Ser732=) | |
| 18 | g.23539996G>C | CA503322688 | NPC1 | c.2610C>G (p.Ser870=) n.2524C>G n.401C>G c.1688C>G c.2661C>G (p.Ser887=) c.2196C>G (p.Ser732=) | |
| 18 | g.23539996G>T | CA503322689 | NPC1 | c.2610C>A (p.Ser870=) n.2524C>A n.401C>A c.1688C>A c.2661C>A (p.Ser887=) c.2196C>A (p.Ser732=) | |
| 18 | g.23539997G>A | CA401793039 | NPC1 | c.2609C>T (p.Ser870Phe) n.2523C>T n.400C>T c.1687C>T c.2660C>T (p.Ser887Phe) c.2195C>T (p.Ser732Phe) | |
| 18 | g.23539997G>C | CA401793040 | NPC1 | c.2609C>G (p.Ser870Cys) n.2523C>G n.400C>G c.1687C>G c.2660C>G (p.Ser887Cys) c.2195C>G (p.Ser732Cys) | |
| 18 | g.23539997G>T | CA401793041 | NPC1 | c.2609C>A (p.Ser870Tyr) n.2523C>A n.400C>A c.1687C>A c.2660C>A (p.Ser887Tyr) c.2195C>A (p.Ser732Tyr) | |
| 18 | g.23539998A= | CA2290165987 | NPC1 | c.2608T= (p.Ser870=) n.2522T= n.399T= c.1686T= c.2659T= (p.Ser887=) c.2194T= (p.Ser732=) | |
| 18 | g.23539998A>C | CA401793042 | NPC1 | c.2608T>G (p.Ser870Ala) n.2522T>G n.399T>G c.1686T>G c.2659T>G (p.Ser887Ala) c.2194T>G (p.Ser732Ala) | |
| 18 | g.23539998A>G | CA401793043 | NPC1 | c.2608T>C (p.Ser870Pro) n.2522T>C n.399T>C c.1686T>C c.2659T>C (p.Ser887Pro) c.2194T>C (p.Ser732Pro) |