| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23556534_23556536delinsGAA | CA2290173771 | NPC1 | c.1033_1035delinsTTC (p.Phe345=) n.947_949delinsTTC c.315_317delinsTTC c.1084_1086delinsTTC (p.Phe362=) c.619_621delinsTTC (p.Phe207=) | |
| 18 | g.23556535A= | CA2290173773 | NPC1 | c.1034T= (p.Phe345=) n.948T= c.316T= c.1085T= (p.Phe362=) c.620T= (p.Phe207=) | |
| 18 | g.23556535A>C | CA401778764 | NPC1 | c.1034T>G (p.Phe345Cys) n.948T>G c.316T>G c.1085T>G (p.Phe362Cys) c.620T>G (p.Phe207Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.23556535A>G | CA401778761 | NPC1 | c.1034T>C (p.Phe345Ser) n.948T>C c.316T>C c.1085T>C (p.Phe362Ser) c.620T>C (p.Phe207Ser) | ClinVar dbSNP |
| 18 | g.23556535A>T | CA401778758 | NPC1 | c.1034T>A (p.Phe345Tyr) n.948T>A c.316T>A c.1085T>A (p.Phe362Tyr) c.620T>A (p.Phe207Tyr) | |
| 18 | g.23556537del | CA916083633 | NPC1 | c.1034del (p.Phe345SerfsTer?) n.948del c.316del c.1085del (p.Phe362SerfsTer?) c.620del (p.Phe207SerfsTer?) | ClinVar dbSNP |
| 18 | g.23556536_23556537del | CA16041918 | NPC1 | c.1033_1034del (p.Phe345LeufsTer?) n.947_948del c.315_316del c.1084_1085del (p.Phe362LeufsTer?) c.619_620del (p.Phe207LeufsTer?) | ClinVar dbSNP gnomAD v4 |
| 18 | g.23556536A>C | CA401778767 | NPC1 | c.1033T>G (p.Phe345Val) n.947T>G c.315T>G c.1084T>G (p.Phe362Val) c.619T>G (p.Phe207Val) | |
| 18 | g.23556536A>G | CA401778769 | NPC1 | c.1033T>C (p.Phe345Leu) n.947T>C c.315T>C c.1084T>C (p.Phe362Leu) c.619T>C (p.Phe207Leu) | |
| 18 | g.23556536A>T | CA401778771 | NPC1 | c.1033T>A (p.Phe345Ile) n.947T>A c.315T>A c.1084T>A (p.Phe362Ile) c.619T>A (p.Phe207Ile) | |
| 18 | g.23556537A>C | CA503325229 | NPC1 | c.1032T>G (p.Ser344=) n.946T>G c.314T>G c.1083T>G (p.Ser361=) c.618T>G (p.Ser206=) | |
| 18 | g.23556537A>G | CA503325230 | NPC1 | c.1032T>C (p.Ser344=) n.946T>C c.314T>C c.1083T>C (p.Ser361=) c.618T>C (p.Ser206=) | |
| 18 | g.23556537A>T | CA503325231 | NPC1 | c.1032T>A (p.Ser344=) n.946T>A c.314T>A c.1083T>A (p.Ser361=) c.618T>A (p.Ser206=) | ClinVar dbSNP gnomAD v4 |
| 18 | g.23556538G>A | CA401778775 | NPC1 | c.1031C>T (p.Ser344Phe) n.945C>T c.313C>T c.1082C>T (p.Ser361Phe) c.617C>T (p.Ser206Phe) | |
| 18 | g.23556538G>C | CA401778777 | NPC1 | c.1031C>G (p.Ser344Cys) n.945C>G c.313C>G c.1082C>G (p.Ser361Cys) c.617C>G (p.Ser206Cys) | gnomAD v4 |
| 18 | g.23556538G>T | CA401778780 | NPC1 | c.1031C>A (p.Ser344Tyr) n.945C>A c.313C>A c.1082C>A (p.Ser361Tyr) c.617C>A (p.Ser206Tyr) | |
| 18 | g.23556538_23556539delinsGA | CA2290173774 | NPC1 | c.1030_1031delinsTC (p.Ser344=) n.944_945delinsTC c.312_313delinsTC c.1081_1082delinsTC (p.Ser361=) c.616_617delinsTC (p.Ser206=) | |
| 18 | g.23556538_23556539insC | CA2695227257 | NPC1 | c.1030_1031insG (p.Ser344CysfsTer?) n.944_945insG c.312_313insG c.1081_1082insG (p.Ser361CysfsTer?) c.616_617insG (p.Ser206CysfsTer?) | |
| 18 | g.23556539del | CA269816 | NPC1 | c.1030del (p.Ser344LeufsTer?) n.944del c.312del c.1081del (p.Ser361LeufsTer?) c.616del (p.Ser206LeufsTer?) | ClinVar dbSNP |
| 18 | g.23556539A= | CA2290173775 | NPC1 | c.1030T= (p.Ser344=) n.944T= c.312T= c.1081T= (p.Ser361=) c.616T= (p.Ser206=) | |
| 18 | g.23556539A>C | CA401778782 | NPC1 | c.1030T>G (p.Ser344Ala) n.944T>G c.312T>G c.1081T>G (p.Ser361Ala) c.616T>G (p.Ser206Ala) | dbSNP gnomAD v4 |
| 18 | g.23556539A>G | CA401778785 | NPC1 | c.1030T>C (p.Ser344Pro) n.944T>C c.312T>C c.1081T>C (p.Ser361Pro) c.616T>C (p.Ser206Pro) | |
| 18 | g.23556539A>T | CA401778787 | NPC1 | c.1030T>A (p.Ser344Thr) n.944T>A c.312T>A c.1081T>A (p.Ser361Thr) c.616T>A (p.Ser206Thr) | |
| 18 | g.23556540C>A | CA503325232 | NPC1 | c.1029G>T (p.Gly343=) n.943G>T c.311G>T c.1080G>T (p.Gly360=) c.615G>T (p.Gly205=) | |
| 18 | g.23556540C>G | CA503325233 | NPC1 | c.1029G>C (p.Gly343=) n.943G>C c.311G>C c.1080G>C (p.Gly360=) c.615G>C (p.Gly205=) | |
| 18 | g.23556540C>T | CA503325234 | NPC1 | c.1029G>A (p.Gly343=) n.943G>A c.311G>A c.1080G>A (p.Gly360=) c.615G>A (p.Gly205=) | ClinVar dbSNP |
| 18 | g.23556544dup | CA2695227258 | NPC1 | c.1029dup (p.Ser344ValfsTer?) n.943dup c.311dup c.1080dup (p.Ser361ValfsTer?) c.615dup (p.Ser206ValfsTer?) | |
| 18 | g.23556544del | CA645600303 | NPC1 | c.1029del (p.Ser344LeufsTer?) n.943del c.311del c.1080del (p.Ser361LeufsTer?) c.615del (p.Ser206LeufsTer?) | ClinVar COSMIC |
| 18 | g.23556541C>A | CA401778791 | NPC1 | c.1028G>T (p.Gly343Val) n.942G>T c.310G>T c.1079G>T (p.Gly360Val) c.614G>T (p.Gly205Val) | dbSNP |
| 18 | g.23556541C= | CA2290173776 | NPC1 | c.1028G= (p.Gly343=) n.942G= c.310G= c.1079G= (p.Gly360=) c.614G= (p.Gly205=) | |
| 18 | g.23556541C>G | CA401778794 | NPC1 | c.1028G>C (p.Gly343Ala) n.942G>C c.310G>C c.1079G>C (p.Gly360Ala) c.614G>C (p.Gly205Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23556541C>T | CA401778796 | NPC1 | c.1028G>A (p.Gly343Glu) n.942G>A c.310G>A c.1079G>A (p.Gly360Glu) c.614G>A (p.Gly205Glu) | ClinVar dbSNP gnomAD v4 |
| 18 | g.23556542C>A | CA401778802 | NPC1 | c.1027G>T (p.Gly343Trp) n.941G>T c.309G>T c.1078G>T (p.Gly360Trp) c.613G>T (p.Gly205Trp) | |
| 18 | g.23556542C>G | CA401778804 | NPC1 | c.1027G>C (p.Gly343Arg) n.941G>C c.309G>C c.1078G>C (p.Gly360Arg) c.613G>C (p.Gly205Arg) | |
| 18 | g.23556542C>T | CA401778800 | NPC1 | c.1027G>A (p.Gly343Arg) n.941G>A c.309G>A c.1078G>A (p.Gly360Arg) c.613G>A (p.Gly205Arg) | gnomAD v4 COSMIC |
| 18 | g.23556543C>A | CA401778807 | NPC1 | c.1026G>T (p.Trp342Cys) n.940G>T c.308G>T c.1077G>T (p.Trp359Cys) c.612G>T (p.Trp204Cys) | |
| 18 | g.23556543C>G | CA401778809 | NPC1 | c.1026G>C (p.Trp342Cys) n.940G>C c.308G>C c.1077G>C (p.Trp359Cys) c.612G>C (p.Trp204Cys) | |
| 18 | g.23556543C>T | CA401778812 | NPC1 | c.1026G>A (p.Trp342Ter) n.940G>A c.308G>A c.1077G>A (p.Trp359Ter) c.612G>A (p.Trp204Ter) | ClinVar |
| 18 | g.23556544C>A | CA401778816 | NPC1 | c.1025G>T (p.Trp342Leu) n.939G>T c.307G>T c.1076G>T (p.Trp359Leu) c.611G>T (p.Trp204Leu) | |
| 18 | g.23556544C>G | CA401778818 | NPC1 | c.1025G>C (p.Trp342Ser) n.939G>C c.307G>C c.1076G>C (p.Trp359Ser) c.611G>C (p.Trp204Ser) | |
| 18 | g.23556544C>T | CA401778819 | NPC1 | c.1025G>A (p.Trp342Ter) n.939G>A c.307G>A c.1076G>A (p.Trp359Ter) c.611G>A (p.Trp204Ter) | |
| 18 | g.23556545A>C | CA401778827 | NPC1 | c.1024T>G (p.Trp342Gly) n.938T>G c.306T>G c.1075T>G (p.Trp359Gly) c.610T>G (p.Trp204Gly) | |
| 18 | g.23556545A>G | CA401778822 | NPC1 | c.1024T>C (p.Trp342Arg) n.938T>C c.306T>C c.1075T>C (p.Trp359Arg) c.610T>C (p.Trp204Arg) | ClinVar dbSNP |
| 18 | g.23556545A>T | CA401778825 | NPC1 | c.1024T>A (p.Trp342Arg) n.938T>A c.306T>A c.1075T>A (p.Trp359Arg) c.610T>A (p.Trp204Arg) | |
| 18 | g.23556546G>A | CA503325237 | NPC1 | c.1023C>T (p.Arg341=) n.937C>T c.305C>T c.1074C>T (p.Arg358=) c.609C>T (p.Arg203=) | |
| 18 | g.23556546G>C | CA503325236 | NPC1 | c.1023C>G (p.Arg341=) n.937C>G c.305C>G c.1074C>G (p.Arg358=) c.609C>G (p.Arg203=) | |
| 18 | g.23556546G>T | CA503325235 | NPC1 | c.1023C>A (p.Arg341=) n.937C>A c.305C>A c.1074C>A (p.Arg358=) c.609C>A (p.Arg203=) | ClinVar dbSNP |
| 18 | g.23556547C>A | CA401778831 | NPC1 | c.1022G>T (p.Arg341Leu) n.936G>T c.304G>T c.1073G>T (p.Arg358Leu) c.608G>T (p.Arg203Leu) | gnomAD v4 |
| 18 | g.23556547C= | CA2290173777 | NPC1 | c.1022G= (p.Arg341=) n.936G= c.304G= c.1073G= (p.Arg358=) c.608G= (p.Arg203=) | |
| 18 | g.23556547C>G | CA8913550 | NPC1 | c.1022G>C (p.Arg341Pro) n.936G>C c.304G>C c.1073G>C (p.Arg358Pro) c.608G>C (p.Arg203Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |