Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.23539355delCA658824815NPC1c.2911+1del
c.1989+1del
n.544+1del
c.2962+1del
c.2497+1del
 ClinVar dbSNP
18g.23539355C>ACA401792361NPC1c.2911G>T (p.Val971Leu)
c.1989G>T
n.544G>T
c.2962G>T (p.Val988Leu)
c.2497G>T (p.Val833Leu)
 dbSNP
18g.23539355C=CA2290165721NPC1c.2911G= (p.Val971=)
c.1989G=
n.544G=
c.2962G= (p.Val988=)
c.2497G= (p.Val833=)
18g.23539355C>GCA401792362NPC1c.2911G>C (p.Val971Leu)
c.1989G>C
n.544G>C
c.2962G>C (p.Val988Leu)
c.2497G>C (p.Val833Leu)
18g.23539355C>TCA297081147NPC1c.2911G>A (p.Val971Met)
c.1989G>A
n.544G>A
c.2962G>A (p.Val988Met)
c.2497G>A (p.Val833Met)
 ClinVar dbSNP
18g.23539356delCA2576470504NPC1c.2910del (p.Val971TrpfsTer12)
c.1988del
n.543del
c.2961del (p.Val988TrpfsTer12)
c.2496del (p.Val833TrpfsTer12)
18g.23539356T>ACA503322530NPC1c.2910A>T (p.Ser970=)
c.1988A>T
n.543A>T
c.2961A>T (p.Ser987=)
c.2496A>T (p.Ser832=)
18g.23539356T>CCA503322531NPC1c.2910A>G (p.Ser970=)
c.1988A>G
n.543A>G
c.2961A>G (p.Ser987=)
c.2496A>G (p.Ser832=)
 ClinVar gnomAD v4
18g.23539356T>GCA503322532NPC1c.2910A>C (p.Ser970=)
c.1988A>C
n.543A>C
c.2961A>C (p.Ser987=)
c.2496A>C (p.Ser832=)
18g.23539356_23539357insACA2695227439NPC1c.2909_2910insT (p.Val971SerfsTer3)
c.1987_1988insT
n.542_543insT
c.2960_2961insT (p.Val988SerfsTer3)
c.2495_2496insT (p.Val833SerfsTer3)
18g.23539357G>ACA401792363NPC1c.2909C>T (p.Ser970Leu)
c.1987C>T
n.542C>T
c.2960C>T (p.Ser987Leu)
c.2495C>T (p.Ser832Leu)
 dbSNP gnomAD v2 gnomAD v4
18g.23539357G>CCA401792364NPC1c.2909C>G (p.Ser970Ter)
c.1987C>G
n.542C>G
c.2960C>G (p.Ser987Ter)
c.2495C>G (p.Ser832Ter)
18g.23539357G=CA2290165722NPC1c.2909C= (p.Ser970=)
c.1987C=
n.542C=
c.2960C= (p.Ser987=)
c.2495C= (p.Ser832=)
18g.23539357G>TCA401792365NPC1c.2909C>A (p.Ser970Ter)
c.1987C>A
n.542C>A
c.2960C>A (p.Ser987Ter)
c.2495C>A (p.Ser832Ter)
 gnomAD v4
18g.23539357dupCA913014990NPC1c.2909dup (p.Val971SerfsTer3)
c.1987dup
n.542dup
c.2960dup (p.Val988SerfsTer3)
c.2495dup (p.Val833SerfsTer3)
18g.23539358A>CCA401792366NPC1c.2908T>G (p.Ser970Ala)
c.1986T>G
n.541T>G
c.2959T>G (p.Ser987Ala)
c.2494T>G (p.Ser832Ala)
18g.23539358A>GCA401792367NPC1c.2908T>C (p.Ser970Pro)
c.1986T>C
n.541T>C
c.2959T>C (p.Ser987Pro)
c.2494T>C (p.Ser832Pro)
18g.23539358A>TCA401792368NPC1c.2908T>A (p.Ser970Thr)
c.1986T>A
n.541T>A
c.2959T>A (p.Ser987Thr)
c.2494T>A (p.Ser832Thr)
18g.23539359dupCA2580095509NPC1c.2908dup (p.Ser970PhefsTer4)
c.1986dup
n.541dup
c.2959dup (p.Ser987PhefsTer4)
c.2494dup (p.Ser832PhefsTer4)
 ClinVar gnomAD v4
18g.23539358_23539359dupCA8912936NPC1c.2907_2908dup (p.Ser970PhefsTer14)
c.1985_1986dup
n.540_541dup
c.2958_2959dup (p.Ser987PhefsTer14)
c.2493_2494dup (p.Ser832PhefsTer14)
 ClinVar dbSNP ExAC gnomAD v2
18g.23539359A>CCA503322534NPC1c.2907T>G (p.Ala969=)
c.1985T>G
n.540T>G
c.2958T>G (p.Ala986=)
c.2493T>G (p.Ala831=)
18g.23539359A>GCA503322535NPC1c.2907T>C (p.Ala969=)
c.1985T>C
n.540T>C
c.2958T>C (p.Ala986=)
c.2493T>C (p.Ala831=)
18g.23539359A>TCA503322533NPC1c.2907T>A (p.Ala969=)
c.1985T>A
n.540T>A
c.2958T>A (p.Ala986=)
c.2493T>A (p.Ala831=)
18g.23539360G>ACA401792369NPC1c.2906C>T (p.Ala969Val)
c.1984C>T
n.539C>T
c.2957C>T (p.Ala986Val)
c.2492C>T (p.Ala831Val)
 gnomAD v4
18g.23539360G>CCA401792371NPC1c.2906C>G (p.Ala969Gly)
c.1984C>G
n.539C>G
c.2957C>G (p.Ala986Gly)
c.2492C>G (p.Ala831Gly)
18g.23539360G>TCA401792370NPC1c.2906C>A (p.Ala969Asp)
c.1984C>A
n.539C>A
c.2957C>A (p.Ala986Asp)
c.2492C>A (p.Ala831Asp)
 gnomAD v4 COSMIC
18g.23539361C>ACA401792372NPC1c.2905G>T (p.Ala969Ser)
c.1983G>T
n.538G>T
c.2956G>T (p.Ala986Ser)
c.2491G>T (p.Ala831Ser)
18g.23539361C>GCA401792373NPC1c.2905G>C (p.Ala969Pro)
c.1983G>C
n.538G>C
c.2956G>C (p.Ala986Pro)
c.2491G>C (p.Ala831Pro)
18g.23539361C>TCA401792374NPC1c.2905G>A (p.Ala969Thr)
c.1983G>A
n.538G>A
c.2956G>A (p.Ala986Thr)
c.2491G>A (p.Ala831Thr)
18g.23539362A>CCA401792375NPC1c.2904T>G (p.Asn968Lys)
c.1982T>G
n.537T>G
c.2955T>G (p.Asn985Lys)
c.2490T>G (p.Asn830Lys)
18g.23539362A>GCA503322536NPC1c.2904T>C (p.Asn968=)
c.1982T>C
n.537T>C
c.2955T>C (p.Asn985=)
c.2490T>C (p.Asn830=)
18g.23539362A>TCA401792376NPC1c.2904T>A (p.Asn968Lys)
c.1982T>A
n.537T>A
c.2955T>A (p.Asn985Lys)
c.2490T>A (p.Asn830Lys)
18g.23539363T>ACA401792377NPC1c.2903A>T (p.Asn968Ile)
c.1981A>T
n.536A>T
c.2954A>T (p.Asn985Ile)
c.2489A>T (p.Asn830Ile)
18g.23539363T>CCA8912937NPC1c.2903A>G (p.Asn968Ser)
c.1981A>G
n.536A>G
c.2954A>G (p.Asn985Ser)
c.2489A>G (p.Asn830Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23539363T>GCA401792378NPC1c.2903A>C (p.Asn968Thr)
c.1981A>C
n.536A>C
c.2954A>C (p.Asn985Thr)
c.2489A>C (p.Asn830Thr)
18g.23539363T=CA2290165723NPC1c.2903A= (p.Asn968=)
c.1981A=
n.536A=
c.2954A= (p.Asn985=)
c.2489A= (p.Asn830=)
18g.23539364T>ACA401792379NPC1c.2902A>T (p.Asn968Tyr)
c.1980A>T
n.535A>T
c.2953A>T (p.Asn985Tyr)
c.2488A>T (p.Asn830Tyr)
18g.23539364T>CCA401792380NPC1c.2902A>G (p.Asn968Asp)
c.1980A>G
n.535A>G
c.2953A>G (p.Asn985Asp)
c.2488A>G (p.Asn830Asp)
18g.23539364T>GCA401792381NPC1c.2902A>C (p.Asn968His)
c.1980A>C
n.535A>C
c.2953A>C (p.Asn985His)
c.2488A>C (p.Asn830His)
18g.23539365G>ACA503322537NPC1c.2901C>T (p.Cys967=)
c.1979C>T
n.534C>T
c.2952C>T (p.Cys984=)
c.2487C>T (p.Cys829=)
18g.23539365G>CCA401792382NPC1c.2901C>G (p.Cys967Trp)
c.1979C>G
n.534C>G
c.2952C>G (p.Cys984Trp)
c.2487C>G (p.Cys829Trp)
18g.23539365G=CA2290165724NPC1c.2901C= (p.Cys967=)
c.1979C=
n.534C=
c.2952C= (p.Cys984=)
c.2487C= (p.Cys829=)
18g.23539365G>TCA401792383NPC1c.2901C>A (p.Cys967Ter)
c.1979C>A
n.534C>A
c.2952C>A (p.Cys984Ter)
c.2487C>A (p.Cys829Ter)
 ClinVar dbSNP
18g.23539366C>ACA401792384NPC1c.2900G>T (p.Cys967Phe)
c.1978G>T
n.533G>T
c.2951G>T (p.Cys984Phe)
c.2486G>T (p.Cys829Phe)
18g.23539366C>GCA401792385NPC1c.2900G>C (p.Cys967Ser)
c.1978G>C
n.533G>C
c.2951G>C (p.Cys984Ser)
c.2486G>C (p.Cys829Ser)
18g.23539366C>TCA401792386NPC1c.2900G>A (p.Cys967Tyr)
c.1978G>A
n.533G>A
c.2951G>A (p.Cys984Tyr)
c.2486G>A (p.Cys829Tyr)
18g.23539367A>CCA401792387NPC1c.2899T>G (p.Cys967Gly)
c.1977T>G
n.532T>G
c.2950T>G (p.Cys984Gly)
c.2485T>G (p.Cys829Gly)
18g.23539367A>GCA401792388NPC1c.2899T>C (p.Cys967Arg)
c.1977T>C
n.532T>C
c.2950T>C (p.Cys984Arg)
c.2485T>C (p.Cys829Arg)
18g.23539367A>TCA401792389NPC1c.2899T>A (p.Cys967Ser)
c.1977T>A
n.532T>A
c.2950T>A (p.Cys984Ser)
c.2485T>A (p.Cys829Ser)
18g.23539368G>ACA503322538NPC1c.2898C>T (p.Phe966=)
c.1976C>T
n.531C>T
c.2949C>T (p.Phe983=)
c.2484C>T (p.Phe828=)
 ClinVar dbSNP gnomAD v4
18g.23539368G>CCA401792390NPC1c.2898C>G (p.Phe966Leu)
c.1976C>G
n.531C>G
c.2949C>G (p.Phe983Leu)
c.2484C>G (p.Phe828Leu)
18g.23539368G>TCA401792391NPC1c.2898C>A (p.Phe966Leu)
c.1976C>A
n.531C>A
c.2949C>A (p.Phe983Leu)
c.2484C>A (p.Phe828Leu)
18g.23539369A>CCA401792392NPC1c.2897T>G (p.Phe966Cys)
c.1975T>G
n.530T>G
c.2948T>G (p.Phe983Cys)
c.2483T>G (p.Phe828Cys)
18g.23539369A>GCA401792393NPC1c.2897T>C (p.Phe966Ser)
c.1975T>C
n.530T>C
c.2948T>C (p.Phe983Ser)
c.2483T>C (p.Phe828Ser)
18g.23539369A>TCA401792394NPC1c.2897T>A (p.Phe966Tyr)
c.1975T>A
n.530T>A
c.2948T>A (p.Phe983Tyr)
c.2483T>A (p.Phe828Tyr)
 ClinVar dbSNP
18g.23539369_23539383delCA2695227440NPC1c.2883_2897del (p.Ile962_Phe966del)
c.1961_1975del
n.516_530del
c.2934_2948del (p.Ile979_Phe983del)
c.2469_2483del (p.Ile824_Phe828del)
18g.23539369_23539384delinsCCA2580095511NPC1c.2882_2897delinsG (p.Asn961_Phe966delinsSer)
c.1960_1975delinsG
n.515_530delinsG
c.2933_2948delinsG (p.Asn978_Phe983delinsSer)
c.2468_2483delinsG (p.Asn823_Phe828delinsSer)
 ClinVar
18g.23539370A>CCA401792395NPC1c.2896T>G (p.Phe966Val)
c.1974T>G
n.529T>G
c.2947T>G (p.Phe983Val)
c.2482T>G (p.Phe828Val)
18g.23539370A>GCA401792396NPC1c.2896T>C (p.Phe966Leu)
c.1974T>C
n.529T>C
c.2947T>C (p.Phe983Leu)
c.2482T>C (p.Phe828Leu)
18g.23539370A>TCA401792397NPC1c.2896T>A (p.Phe966Ile)
c.1974T>A
n.529T>A
c.2947T>A (p.Phe983Ile)
c.2482T>A (p.Phe828Ile)
18g.23539371C>ACA401792398NPC1c.2895G>T (p.Gln965His)
c.1973G>T
n.528G>T
c.2946G>T (p.Gln982His)
c.2481G>T (p.Gln827His)
18g.23539371C>GCA401792399NPC1c.2895G>C (p.Gln965His)
c.1973G>C
n.528G>C
c.2946G>C (p.Gln982His)
c.2481G>C (p.Gln827His)
 COSMIC
18g.23539371C>TCA503322539NPC1c.2895G>A (p.Gln965=)
c.1973G>A
n.528G>A
c.2946G>A (p.Gln982=)
c.2481G>A (p.Gln827=)
18g.23539372T>ACA401792400NPC1c.2894A>T (p.Gln965Leu)
c.1972A>T
n.527A>T
c.2945A>T (p.Gln982Leu)
c.2480A>T (p.Gln827Leu)
18g.23539372T>CCA401792401NPC1c.2894A>G (p.Gln965Arg)
c.1972A>G
n.527A>G
c.2945A>G (p.Gln982Arg)
c.2480A>G (p.Gln827Arg)
 gnomAD v4
18g.23539372T>GCA401792402NPC1c.2894A>C (p.Gln965Pro)
c.1972A>C
n.527A>C
c.2945A>C (p.Gln982Pro)
c.2480A>C (p.Gln827Pro)
18g.23539373G>ACA274181NPC1c.2893C>T (p.Gln965Ter)
c.1971C>T
n.526C>T
c.2944C>T (p.Gln982Ter)
c.2479C>T (p.Gln827Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.23539373G>CCA401792403NPC1c.2893C>G (p.Gln965Glu)
c.1971C>G
n.526C>G
c.2944C>G (p.Gln982Glu)
c.2479C>G (p.Gln827Glu)
 gnomAD v4
18g.23539373G=CA2290165725NPC1c.2893C= (p.Gln965=)
c.1971C=
n.526C=
c.2944C= (p.Gln982=)
c.2479C= (p.Gln827=)
18g.23539373G>TCA401792404NPC1c.2893C>A (p.Gln965Lys)
c.1971C>A
n.526C>A
c.2944C>A (p.Gln982Lys)
c.2479C>A (p.Gln827Lys)
18g.23539374G>ACA503322540NPC1c.2892C>T (p.Asp964=)
c.1970C>T
n.525C>T
c.2943C>T (p.Asp981=)
c.2478C>T (p.Asp826=)
 ClinVar dbSNP
18g.23539374G>CCA401792405NPC1c.2892C>G (p.Asp964Glu)
c.1970C>G
n.525C>G
c.2943C>G (p.Asp981Glu)
c.2478C>G (p.Asp826Glu)
18g.23539374G>TCA401792406NPC1c.2892C>A (p.Asp964Glu)
c.1970C>A
n.525C>A
c.2943C>A (p.Asp981Glu)
c.2478C>A (p.Asp826Glu)
 gnomAD v4
18g.23539375T>ACA401792407NPC1c.2891A>T (p.Asp964Val)
c.1969A>T
n.524A>T
c.2942A>T (p.Asp981Val)
c.2477A>T (p.Asp826Val)
18g.23539375T>CCA401792408NPC1c.2891A>G (p.Asp964Gly)
c.1969A>G
n.524A>G
c.2942A>G (p.Asp981Gly)
c.2477A>G (p.Asp826Gly)
18g.23539375T>GCA401792409NPC1c.2891A>C (p.Asp964Ala)
c.1969A>C
n.524A>C
c.2942A>C (p.Asp981Ala)
c.2477A>C (p.Asp826Ala)
 dbSNP gnomAD v3 gnomAD v4
18g.23539375T=CA2290165726NPC1c.2891A= (p.Asp964=)
c.1969A=
n.524A=
c.2942A= (p.Asp981=)
c.2477A= (p.Asp826=)
18g.23539376C>ACA401792412NPC1c.2890G>T (p.Asp964Tyr)
c.1968G>T
n.523G>T
c.2941G>T (p.Asp981Tyr)
c.2476G>T (p.Asp826Tyr)
 gnomAD v4
18g.23539376C>GCA401792411NPC1c.2890G>C (p.Asp964His)
c.1968G>C
n.523G>C
c.2941G>C (p.Asp981His)
c.2476G>C (p.Asp826His)
18g.23539376C>TCA401792410NPC1c.2890G>A (p.Asp964Asn)
c.1968G>A
n.523G>A
c.2941G>A (p.Asp981Asn)
c.2476G>A (p.Asp826Asn)
18g.23539377A>CCA503322541NPC1c.2889T>G (p.Thr963=)
c.1967T>G
n.522T>G
c.2940T>G (p.Thr980=)
c.2475T>G (p.Thr825=)
18g.23539377A>GCA503322542NPC1c.2889T>C (p.Thr963=)
c.1967T>C
n.522T>C
c.2940T>C (p.Thr980=)
c.2475T>C (p.Thr825=)
18g.23539377A>TCA503322543NPC1c.2889T>A (p.Thr963=)
c.1967T>A
n.522T>A
c.2940T>A (p.Thr980=)
c.2475T>A (p.Thr825=)
18g.23539378G>ACA401792413NPC1c.2888C>T (p.Thr963Ile)
c.1966C>T
n.521C>T
c.2939C>T (p.Thr980Ile)
c.2474C>T (p.Thr825Ile)
18g.23539378G>CCA401792415NPC1c.2888C>G (p.Thr963Ser)
c.1966C>G
n.521C>G
c.2939C>G (p.Thr980Ser)
c.2474C>G (p.Thr825Ser)
18g.23539378G>TCA401792414NPC1c.2888C>A (p.Thr963Asn)
c.1966C>A
n.521C>A
c.2939C>A (p.Thr980Asn)
c.2474C>A (p.Thr825Asn)
 gnomAD v4
18g.23539379T>ACA401792416NPC1c.2887A>T (p.Thr963Ser)
c.1965A>T
n.520A>T
c.2938A>T (p.Thr980Ser)
c.2473A>T (p.Thr825Ser)
18g.23539379T>CCA401792417NPC1c.2887A>G (p.Thr963Ala)
c.1965A>G
n.520A>G
c.2938A>G (p.Thr980Ala)
c.2473A>G (p.Thr825Ala)
18g.23539379T>GCA401792418NPC1c.2887A>C (p.Thr963Pro)
c.1965A>C
n.520A>C
c.2938A>C (p.Thr980Pro)
c.2473A>C (p.Thr825Pro)
18g.23539380_23539382delCA2641273009NPC1c.2885_2887del (p.Ile962del)
c.1963_1965del
n.518_520del
c.2936_2938del (p.Ile979del)
c.2471_2473del (p.Ile824del)
 gnomAD v4
18g.23539380G>ACA503322544NPC1c.2886C>T (p.Ile962=)
c.1964C>T
n.519C>T
c.2937C>T (p.Ile979=)
c.2472C>T (p.Ile824=)
18g.23539380G>CCA401792419NPC1c.2886C>G (p.Ile962Met)
c.1964C>G
n.519C>G
c.2937C>G (p.Ile979Met)
c.2472C>G (p.Ile824Met)
 gnomAD v4
18g.23539380G>TCA503322545NPC1c.2886C>A (p.Ile962=)
c.1964C>A
n.519C>A
c.2937C>A (p.Ile979=)
c.2472C>A (p.Ile824=)
18g.23539381A>CCA401792420NPC1c.2885T>G (p.Ile962Ser)
c.1963T>G
n.518T>G
c.2936T>G (p.Ile979Ser)
c.2471T>G (p.Ile824Ser)
18g.23539381A>GCA401792421NPC1c.2885T>C (p.Ile962Thr)
c.1963T>C
n.518T>C
c.2936T>C (p.Ile979Thr)
c.2471T>C (p.Ile824Thr)
18g.23539381A>TCA401792422NPC1c.2885T>A (p.Ile962Asn)
c.1963T>A
n.518T>A
c.2936T>A (p.Ile979Asn)
c.2471T>A (p.Ile824Asn)
18g.23539382T>ACA401792423NPC1c.2884A>T (p.Ile962Phe)
c.1962A>T
n.517A>T
c.2935A>T (p.Ile979Phe)
c.2470A>T (p.Ile824Phe)
 COSMIC
18g.23539382T>CCA401792424NPC1c.2884A>G (p.Ile962Val)
c.1962A>G
n.517A>G
c.2935A>G (p.Ile979Val)
c.2470A>G (p.Ile824Val)
 dbSNP gnomAD v2 gnomAD v4
18g.23539382T>GCA401792425NPC1c.2884A>C (p.Ile962Leu)
c.1962A>C
n.517A>C
c.2935A>C (p.Ile979Leu)
c.2470A>C (p.Ile824Leu)
18g.23539382T=CA2290165727NPC1c.2884A= (p.Ile962=)
c.1962A=
n.517A=
c.2935A= (p.Ile979=)
c.2470A= (p.Ile824=)
18g.23539383A>CCA401792426NPC1c.2883T>G (p.Asn961Lys)
c.1961T>G
n.516T>G
c.2934T>G (p.Asn978Lys)
c.2469T>G (p.Asn823Lys)
18g.23539383A>GCA503322546NPC1c.2883T>C (p.Asn961=)
c.1961T>C
n.516T>C
c.2934T>C (p.Asn978=)
c.2469T>C (p.Asn823=)
 gnomAD v4
18g.23539383A>TCA401792427NPC1c.2883T>A (p.Asn961Lys)
c.1961T>A
n.516T>A
c.2934T>A (p.Asn978Lys)
c.2469T>A (p.Asn823Lys)
18g.23539384T>ACA401792429NPC1c.2882A>T (p.Asn961Ile)
c.1960A>T
n.515A>T
c.2933A>T (p.Asn978Ile)
c.2468A>T (p.Asn823Ile)
18g.23539384T>CCA8912938NPC1c.2882A>G (p.Asn961Ser)
c.1960A>G
n.515A>G
c.2933A>G (p.Asn978Ser)
c.2468A>G (p.Asn823Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23539384T>GCA401792428NPC1c.2882A>C (p.Asn961Thr)
c.1960A>C
n.515A>C
c.2933A>C (p.Asn978Thr)
c.2468A>C (p.Asn823Thr)
18g.23539384T=CA2290165728NPC1c.2882A= (p.Asn961=)
c.1960A=
n.515A=
c.2933A= (p.Asn978=)
c.2468A= (p.Asn823=)
18g.23539385T>ACA401792430NPC1c.2881A>T (p.Asn961Tyr)
c.1959A>T
n.514A>T
c.2932A>T (p.Asn978Tyr)
c.2467A>T (p.Asn823Tyr)
18g.23539385T>CCA8912939NPC1c.2881A>G (p.Asn961Asp)
c.1959A>G
n.514A>G
c.2932A>G (p.Asn978Asp)
c.2467A>G (p.Asn823Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23539385T>GCA401792431NPC1c.2881A>C (p.Asn961His)
c.1959A>C
n.514A>C
c.2932A>C (p.Asn978His)
c.2467A>C (p.Asn823His)
18g.23539385T=CA2290165729NPC1c.2881A= (p.Asn961=)
c.1959A=
n.514A=
c.2932A= (p.Asn978=)
c.2467A= (p.Asn823=)
18g.23539386G>ACA503322547NPC1c.2880C>T (p.Asp960=)
c.1958C>T
n.513C>T
c.2931C>T (p.Asp977=)
c.2466C>T (p.Asp822=)
18g.23539386G>CCA401792432NPC1c.2880C>G (p.Asp960Glu)
c.1958C>G
n.513C>G
c.2931C>G (p.Asp977Glu)
c.2466C>G (p.Asp822Glu)
18g.23539386G>TCA401792433NPC1c.2880C>A (p.Asp960Glu)
c.1958C>A
n.513C>A
c.2931C>A (p.Asp977Glu)
c.2466C>A (p.Asp822Glu)
18g.23539387T>ACA401792434NPC1c.2879A>T (p.Asp960Val)
c.1957A>T
n.512A>T
c.2930A>T (p.Asp977Val)
c.2465A>T (p.Asp822Val)
18g.23539387T>CCA401792435NPC1c.2879A>G (p.Asp960Gly)
c.1957A>G
n.512A>G
c.2930A>G (p.Asp977Gly)
c.2465A>G (p.Asp822Gly)
18g.23539387T>GCA401792436NPC1c.2879A>C (p.Asp960Ala)
c.1957A>C
n.512A>C
c.2930A>C (p.Asp977Ala)
c.2465A>C (p.Asp822Ala)
18g.23539388C>ACA401792437NPC1c.2878G>T (p.Asp960Tyr)
c.1956G>T
n.511G>T
c.2929G>T (p.Asp977Tyr)
c.2464G>T (p.Asp822Tyr)
18g.23539388C>GCA401792438NPC1c.2878G>C (p.Asp960His)
c.1956G>C
n.511G>C
c.2929G>C (p.Asp977His)
c.2464G>C (p.Asp822His)
18g.23539388C>TCA401792439NPC1c.2878G>A (p.Asp960Asn)
c.1956G>A
n.511G>A
c.2929G>A (p.Asp977Asn)
c.2464G>A (p.Asp822Asn)
18g.23539389dupCA2580095515NPC1c.2878dup (p.Asp960GlyfsTer5)
c.1956dup
n.511dup
c.2929dup (p.Asp977GlyfsTer5)
c.2464dup (p.Asp822GlyfsTer5)
 ClinVar
18g.23539389C>ACA503322548NPC1c.2877G>T (p.Val959=)
c.1955G>T
n.510G>T
c.2928G>T (p.Val976=)
c.2463G>T (p.Val821=)
18g.23539389C>GCA503322549NPC1c.2877G>C (p.Val959=)
c.1955G>C
n.510G>C
c.2928G>C (p.Val976=)
c.2463G>C (p.Val821=)
18g.23539389C>TCA503322550NPC1c.2877G>A (p.Val959=)
c.1955G>A
n.510G>A
c.2928G>A (p.Val976=)
c.2463G>A (p.Val821=)
18g.23539390A>CCA401792442NPC1c.2876T>G (p.Val959Gly)
c.1954T>G
n.509T>G
c.2927T>G (p.Val976Gly)
c.2462T>G (p.Val821Gly)
18g.23539390A>GCA401792441NPC1c.2876T>C (p.Val959Ala)
c.1954T>C
n.509T>C
c.2927T>C (p.Val976Ala)
c.2462T>C (p.Val821Ala)
18g.23539390A>TCA401792440NPC1c.2876T>A (p.Val959Glu)
c.1954T>A
n.509T>A
c.2927T>A (p.Val976Glu)
c.2462T>A (p.Val821Glu)
18g.23539391C>ACA401792443NPC1c.2875G>T (p.Val959Leu)
c.1953G>T
n.508G>T
c.2926G>T (p.Val976Leu)
c.2461G>T (p.Val821Leu)
18g.23539391C>GCA401792444NPC1c.2875G>C (p.Val959Leu)
c.1953G>C
n.508G>C
c.2926G>C (p.Val976Leu)
c.2461G>C (p.Val821Leu)
18g.23539391C>TCA401792445NPC1c.2875G>A (p.Val959Met)
c.1953G>A
n.508G>A
c.2926G>A (p.Val976Met)
c.2461G>A (p.Val821Met)
18g.23539392T>ACA503322551NPC1c.2874A>T (p.Arg958=)
c.1952A>T
n.507A>T
c.2925A>T (p.Arg975=)
c.2460A>T (p.Arg820=)
 ClinVar dbSNP
18g.23539392T>CCA503322552NPC1c.2874A>G (p.Arg958=)
c.1952A>G
n.507A>G
c.2925A>G (p.Arg975=)
c.2460A>G (p.Arg820=)
18g.23539392T>GCA503322553NPC1c.2874A>C (p.Arg958=)
c.1952A>C
n.507A>C
c.2925A>C (p.Arg975=)
c.2460A>C (p.Arg820=)
18g.23539393C>ACA401792446NPC1c.2873G>T (p.Arg958Leu)
c.1951G>T
n.506G>T
c.2924G>T (p.Arg975Leu)
c.2459G>T (p.Arg820Leu)
 dbSNP
18g.23539393C=CA2290165730NPC1c.2873G= (p.Arg958=)
c.1951G=
n.506G=
c.2924G= (p.Arg975=)
c.2459G= (p.Arg820=)
18g.23539393C>GCA401792447NPC1c.2873G>C (p.Arg958Pro)
c.1951G>C
n.506G>C
c.2924G>C (p.Arg975Pro)
c.2459G>C (p.Arg820Pro)
18g.23539393C>TCA252498NPC1c.2873G>A (p.Arg958Gln)
c.1951G>A
n.506G>A
c.2924G>A (p.Arg975Gln)
c.2459G>A (p.Arg820Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
18g.23539394G>ACA8912940NPC1c.2872C>T (p.Arg958Ter)
c.1950C>T
n.505C>T
c.2923C>T (p.Arg975Ter)
c.2458C>T (p.Arg820Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.23539394G>CCA401792448NPC1c.2872C>G (p.Arg958Gly)
c.1950C>G
n.505C>G
c.2923C>G (p.Arg975Gly)
c.2458C>G (p.Arg820Gly)
18g.23539394G=CA2290165731NPC1c.2872C= (p.Arg958=)
c.1950C=
n.505C=
c.2923C= (p.Arg975=)
c.2458C= (p.Arg820=)
18g.23539394G>TCA503322554NPC1c.2872C>A (p.Arg958=)
c.1950C>A
n.505C>A
c.2923C>A (p.Arg975=)
c.2458C>A (p.Arg820=)
18g.23539395A>CCA401792449NPC1c.2871T>G (p.Cys957Trp)
c.1949T>G
n.504T>G
c.2922T>G (p.Cys974Trp)
c.2457T>G (p.Cys819Trp)
18g.23539395A>GCA503322555NPC1c.2871T>C (p.Cys957=)
c.1949T>C
n.504T>C
c.2922T>C (p.Cys974=)
c.2457T>C (p.Cys819=)
18g.23539395A>TCA401792450NPC1c.2871T>A (p.Cys957Ter)
c.1949T>A
n.504T>A
c.2922T>A (p.Cys974Ter)
c.2457T>A (p.Cys819Ter)
 ClinVar
18g.23539396C>ACA401792451NPC1c.2870G>T (p.Cys957Phe)
c.1948G>T
n.503G>T
c.2921G>T (p.Cys974Phe)
c.2456G>T (p.Cys819Phe)
18g.23539396C>GCA401792452NPC1c.2870G>C (p.Cys957Ser)
c.1948G>C
n.503G>C
c.2921G>C (p.Cys974Ser)
c.2456G>C (p.Cys819Ser)
18g.23539396C>TCA401792453NPC1c.2870G>A (p.Cys957Tyr)
c.1948G>A
n.503G>A
c.2921G>A (p.Cys974Tyr)
c.2456G>A (p.Cys819Tyr)
18g.23539397A>CCA401792456NPC1c.2869T>G (p.Cys957Gly)
c.1947T>G
n.502T>G
c.2920T>G (p.Cys974Gly)
c.2455T>G (p.Cys819Gly)
18g.23539397A>GCA401792454NPC1c.2869T>C (p.Cys957Arg)
c.1947T>C
n.502T>C
c.2920T>C (p.Cys974Arg)
c.2455T>C (p.Cys819Arg)
 gnomAD v4
18g.23539397A>TCA401792455NPC1c.2869T>A (p.Cys957Ser)
c.1947T>A
n.502T>A
c.2920T>A (p.Cys974Ser)
c.2455T>A (p.Cys819Ser)
18g.23539398G>ACA503322556NPC1c.2868C>T (p.Cys956=)
c.1946C>T
n.501C>T
c.2919C>T (p.Cys973=)
c.2454C>T (p.Cys818=)
 gnomAD v4
18g.23539398G>CCA401792457NPC1c.2868C>G (p.Cys956Trp)
c.1946C>G
n.501C>G
c.2919C>G (p.Cys973Trp)
c.2454C>G (p.Cys818Trp)
18g.23539398G>TCA401792458NPC1c.2868C>A (p.Cys956Ter)
c.1946C>A
n.501C>A
c.2919C>A (p.Cys973Ter)
c.2454C>A (p.Cys818Ter)
18g.23539399C>ACA401792459NPC1c.2867G>T (p.Cys956Phe)
c.1945G>T
n.500G>T
c.2918G>T (p.Cys973Phe)
c.2453G>T (p.Cys818Phe)
18g.23539399C=CA2290165732NPC1c.2867G= (p.Cys956=)
c.1945G=
n.500G=
c.2918G= (p.Cys973=)
c.2453G= (p.Cys818=)
18g.23539399C>GCA401792460NPC1c.2867G>C (p.Cys956Ser)
c.1945G>C
n.500G>C
c.2918G>C (p.Cys973Ser)
c.2453G>C (p.Cys818Ser)
18g.23539399C>TCA401792461NPC1c.2867G>A (p.Cys956Tyr)
c.1945G>A
n.500G>A
c.2918G>A (p.Cys973Tyr)
c.2453G>A (p.Cys818Tyr)
 dbSNP
18g.23539400A>CCA401792462NPC1c.2866T>G (p.Cys956Gly)
c.1944T>G
n.499T>G
c.2917T>G (p.Cys973Gly)
c.2452T>G (p.Cys818Gly)
18g.23539400A>GCA401792463NPC1c.2866T>C (p.Cys956Arg)
c.1944T>C
n.499T>C
c.2917T>C (p.Cys973Arg)
c.2452T>C (p.Cys818Arg)
18g.23539400A>TCA401792464NPC1c.2866T>A (p.Cys956Ser)
c.1944T>A
n.499T>A
c.2917T>A (p.Cys973Ser)
c.2452T>A (p.Cys818Ser)
18g.23539401A=CA2290165733NPC1c.2865T= (p.Ser955=)
c.1943T=
n.498T=
c.2916T= (p.Ser972=)
c.2451T= (p.Ser817=)
18g.23539401A>CCA503322558NPC1c.2865T>G (p.Ser955=)
c.1943T>G
n.498T>G
c.2916T>G (p.Ser972=)
c.2451T>G (p.Ser817=)
18g.23539401A>GCA297081160NPC1c.2865T>C (p.Ser955=)
c.1943T>C
n.498T>C
c.2916T>C (p.Ser972=)
c.2451T>C (p.Ser817=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.23539401A>TCA503322557NPC1c.2865T>A (p.Ser955=)
c.1943T>A
n.498T>A
c.2916T>A (p.Ser972=)
c.2451T>A (p.Ser817=)
18g.23539401_23539404delinsAGACCA2290165734NPC1c.2862_2865delinsGTCT (p.Ser954=)
c.1940_1943delinsGTCT
n.495_498delinsGTCT
c.2913_2916delinsGTCT (p.Ser971=)
c.2448_2451delinsGTCT (p.Ser816=)
18g.23539402G>ACA297081164NPC1c.2864C>T (p.Ser955Phe)
c.1942C>T
n.497C>T
c.2915C>T (p.Ser972Phe)
c.2450C>T (p.Ser817Phe)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.23539402G>CCA401792465NPC1c.2864C>G (p.Ser955Cys)
c.1942C>G
n.497C>G
c.2915C>G (p.Ser972Cys)
c.2450C>G (p.Ser817Cys)
18g.23539402G=CA2290165735NPC1c.2864C= (p.Ser955=)
c.1942C=
n.497C=
c.2915C= (p.Ser972=)
c.2450C= (p.Ser817=)
18g.23539402G>TCA401792466NPC1c.2864C>A (p.Ser955Tyr)
c.1942C>A
n.497C>A
c.2915C>A (p.Ser972Tyr)
c.2450C>A (p.Ser817Tyr)
18g.23539405_23539407delCA628677872NPC1c.2862_2864del (p.Ser955del)
c.1940_1942del
n.495_497del
c.2913_2915del (p.Ser972del)
c.2448_2450del (p.Ser817del)
 dbSNP gnomAD v2
18g.23539403A>CCA401792469NPC1c.2863T>G (p.Ser955Ala)
c.1941T>G
n.496T>G
c.2914T>G (p.Ser972Ala)
c.2449T>G (p.Ser817Ala)
18g.23539403A>GCA401792468NPC1c.2863T>C (p.Ser955Pro)
c.1941T>C
n.496T>C
c.2914T>C (p.Ser972Pro)
c.2449T>C (p.Ser817Pro)
18g.23539403A>TCA401792467NPC1c.2863T>A (p.Ser955Thr)
c.1941T>A
n.496T>A
c.2914T>A (p.Ser972Thr)
c.2449T>A (p.Ser817Thr)
18g.23539404C>ACA503322559NPC1c.2862G>T (p.Ser954=)
c.1940G>T
n.495G>T
c.2913G>T (p.Ser971=)
c.2448G>T (p.Ser816=)
18g.23539404C=CA2290165736NPC1c.2862G= (p.Ser954=)
c.1940G=
n.495G=
c.2913G= (p.Ser971=)
c.2448G= (p.Ser816=)
18g.23539404C>GCA503322560NPC1c.2862G>C (p.Ser954=)
c.1940G>C
n.495G>C
c.2913G>C (p.Ser971=)
c.2448G>C (p.Ser816=)
18g.23539404C>TCA220561NPC1c.2862G>A (p.Ser954=)
c.1940G>A
n.495G>A
c.2913G>A (p.Ser971=)
c.2448G>A (p.Ser816=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23539405G>ACA297014NPC1c.2861C>T (p.Ser954Leu)
c.1939C>T
n.494C>T
c.2912C>T (p.Ser971Leu)
c.2447C>T (p.Ser816Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23539405G>CCA401792470NPC1c.2861C>G (p.Ser954Trp)
c.1939C>G
n.494C>G
c.2912C>G (p.Ser971Trp)
c.2447C>G (p.Ser816Trp)
18g.23539405G=CA2290165737NPC1c.2861C= (p.Ser954=)
c.1939C=
n.494C=
c.2912C= (p.Ser971=)
c.2447C= (p.Ser816=)
18g.23539405G>TCA401792471NPC1c.2861C>A (p.Ser954Ter)
c.1939C>A
n.494C>A
c.2912C>A (p.Ser971Ter)
c.2447C>A (p.Ser816Ter)
 gnomAD v4
18g.23539406A>CCA401792472NPC1c.2860T>G (p.Ser954Ala)
c.1938T>G
n.493T>G
c.2911T>G (p.Ser971Ala)
c.2446T>G (p.Ser816Ala)
18g.23539406A>GCA401792474NPC1c.2860T>C (p.Ser954Pro)
c.1938T>C
n.493T>C
c.2911T>C (p.Ser971Pro)
c.2446T>C (p.Ser816Pro)
18g.23539406A>TCA401792473NPC1c.2860T>A (p.Ser954Thr)
c.1938T>A
n.493T>A
c.2911T>A (p.Ser971Thr)
c.2446T>A (p.Ser816Thr)
18g.23539407C>ACA401792475NPC1c.2859G>T (p.Gln953His)
c.1937G>T
n.492G>T
c.2910G>T (p.Gln970His)
c.2445G>T (p.Gln815His)
18g.23539407C=CA2290165738NPC1c.2859G= (p.Gln953=)
c.1937G=
n.492G=
c.2910G= (p.Gln970=)
c.2445G= (p.Gln815=)
18g.23539407C>GCA401792476NPC1c.2859G>C (p.Gln953His)
c.1937G>C
n.492G>C
c.2910G>C (p.Gln970His)
c.2445G>C (p.Gln815His)
18g.23539407C>TCA503322561NPC1c.2859G>A (p.Gln953=)
c.1937G>A
n.492G>A
c.2910G>A (p.Gln970=)
c.2445G>A (p.Gln815=)
 dbSNP gnomAD v2
18g.23539408T>ACA8912941NPC1c.2858A>T (p.Gln953Leu)
c.1936A>T
n.491A>T
c.2909A>T (p.Gln970Leu)
c.2444A>T (p.Gln815Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23539408T>CCA401792477NPC1c.2858A>G (p.Gln953Arg)
c.1936A>G
n.491A>G
c.2909A>G (p.Gln970Arg)
c.2444A>G (p.Gln815Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.23539408T>GCA401792478NPC1c.2858A>C (p.Gln953Pro)
c.1936A>C
n.491A>C
c.2909A>C (p.Gln970Pro)
c.2444A>C (p.Gln815Pro)
18g.23539408T=CA2290165739NPC1c.2858A= (p.Gln953=)
c.1936A=
n.491A=
c.2909A= (p.Gln970=)
c.2444A= (p.Gln815=)
18g.23539410_23539411delCA2580613286NPC1c.2857_2858del (p.Gln953ValfsTer11)
c.1935_1936del
n.490_491del
c.2908_2909del (p.Gln970ValfsTer11)
c.2443_2444del (p.Gln815ValfsTer11)
 ClinVar dbSNP
18g.23539409G>ACA401792479NPC1c.2857C>T (p.Gln953Ter)
c.1935C>T
n.490C>T
c.2908C>T (p.Gln970Ter)
c.2443C>T (p.Gln815Ter)
18g.23539409G>CCA401792480NPC1c.2857C>G (p.Gln953Glu)
c.1935C>G
n.490C>G
c.2908C>G (p.Gln970Glu)
c.2443C>G (p.Gln815Glu)
18g.23539409G>TCA401792481NPC1c.2857C>A (p.Gln953Lys)
c.1935C>A
n.490C>A
c.2908C>A (p.Gln970Lys)
c.2443C>A (p.Gln815Lys)
18g.23539410T>ACA503322562NPC1c.2856A>T (p.Pro952=)
c.1934A>T
n.489A>T
c.2907A>T (p.Pro969=)
c.2442A>T (p.Pro814=)
18g.23539410T>CCA503322563NPC1c.2856A>G (p.Pro952=)
c.1934A>G
n.489A>G
c.2907A>G (p.Pro969=)
c.2442A>G (p.Pro814=)
18g.23539410T>GCA503322564NPC1c.2856A>C (p.Pro952=)
c.1934A>C
n.489A>C
c.2907A>C (p.Pro969=)
c.2442A>C (p.Pro814=)
18g.23539411G>ACA401792482NPC1c.2855C>T (p.Pro952Leu)
c.1933C>T
n.488C>T
c.2906C>T (p.Pro969Leu)
c.2441C>T (p.Pro814Leu)
18g.23539411G>CCA401792483NPC1c.2855C>G (p.Pro952Arg)
c.1933C>G
n.488C>G
c.2906C>G (p.Pro969Arg)
c.2441C>G (p.Pro814Arg)
 gnomAD v4
18g.23539411G>TCA401792484NPC1c.2855C>A (p.Pro952Gln)
c.1933C>A
n.488C>A
c.2906C>A (p.Pro969Gln)
c.2441C>A (p.Pro814Gln)
18g.23539412G>ACA401792485NPC1c.2854C>T (p.Pro952Ser)
c.1932C>T
n.487C>T
c.2905C>T (p.Pro969Ser)
c.2440C>T (p.Pro814Ser)
18g.23539412G>CCA401792486NPC1c.2854C>G (p.Pro952Ala)
c.1932C>G
n.487C>G
c.2905C>G (p.Pro969Ala)
c.2440C>G (p.Pro814Ala)
18g.23539412G>TCA401792487NPC1c.2854C>A (p.Pro952Thr)
c.1932C>A
n.487C>A
c.2905C>A (p.Pro969Thr)
c.2440C>A (p.Pro814Thr)
18g.23539413C>ACA401792489NPC1c.2853G>T (p.Lys951Asn)
c.1931G>T
n.486G>T
c.2904G>T (p.Lys968Asn)
c.2439G>T (p.Lys813Asn)
18g.23539413C>GCA401792488NPC1c.2853G>C (p.Lys951Asn)
c.1931G>C
n.486G>C
c.2904G>C (p.Lys968Asn)
c.2439G>C (p.Lys813Asn)
18g.23539413C>TCA503322565NPC1c.2853G>A (p.Lys951=)
c.1931G>A
n.486G>A
c.2904G>A (p.Lys968=)
c.2439G>A (p.Lys813=)
 COSMIC
18g.23539414T>ACA401792490NPC1c.2852A>T (p.Lys951Met)
c.1930A>T
n.485A>T
c.2903A>T (p.Lys968Met)
c.2438A>T (p.Lys813Met)
18g.23539414T>CCA401792491NPC1c.2852A>G (p.Lys951Arg)
c.1930A>G
n.485A>G
c.2903A>G (p.Lys968Arg)
c.2438A>G (p.Lys813Arg)
18g.23539414T>GCA401792492NPC1c.2852A>C (p.Lys951Thr)
c.1930A>C
n.485A>C
c.2903A>C (p.Lys968Thr)
c.2438A>C (p.Lys813Thr)
18g.23539415T>ACA401792493NPC1c.2851A>T (p.Lys951Ter)
c.1929A>T
n.484A>T
c.2902A>T (p.Lys968Ter)
c.2437A>T (p.Lys813Ter)
18g.23539415T>CCA8912942NPC1c.2851A>G (p.Lys951Glu)
c.1929A>G
n.484A>G
c.2902A>G (p.Lys968Glu)
c.2437A>G (p.Lys813Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23539415T>GCA401792494NPC1c.2851A>C (p.Lys951Gln)
c.1929A>C
n.484A>C
c.2902A>C (p.Lys968Gln)
c.2437A>C (p.Lys813Gln)
 ClinVar dbSNP
18g.23539415T=CA2290165740NPC1c.2851A= (p.Lys951=)
c.1929A=
n.484A=
c.2902A= (p.Lys968=)
c.2437A= (p.Lys813=)
18g.23539416C>ACA503322566NPC1c.2850G>T (p.Val950=)
c.1928G>T
n.483G>T
c.2901G>T (p.Val967=)
c.2436G>T (p.Val812=)
18g.23539416C=CA2290165741NPC1c.2850G= (p.Val950=)
c.1928G=
n.483G=
c.2901G= (p.Val967=)
c.2436G= (p.Val812=)
18g.23539416C>GCA503322567NPC1c.2850G>C (p.Val950=)
c.1928G>C
n.483G>C
c.2901G>C (p.Val967=)
c.2436G>C (p.Val812=)
18g.23539416C>TCA8912943NPC1c.2850G>A (p.Val950=)
c.1928G>A
n.483G>A
c.2901G>A (p.Val967=)
c.2436G>A (p.Val812=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23539417A=CA2290165742NPC1c.2849T= (p.Val950=)
c.1927T=
n.482T=
c.2900T= (p.Val967=)
c.2435T= (p.Val812=)
18g.23539417A>CCA16043142NPC1c.2849T>G (p.Val950Gly)
c.1927T>G
n.482T>G
c.2900T>G (p.Val967Gly)
c.2435T>G (p.Val812Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.23539417A>GCA401792495NPC1c.2849T>C (p.Val950Ala)
c.1927T>C
n.482T>C
c.2900T>C (p.Val967Ala)
c.2435T>C (p.Val812Ala)
 dbSNP gnomAD v3 gnomAD v4
18g.23539417A>TCA401792496NPC1c.2849T>A (p.Val950Glu)
c.1927T>A
n.482T>A
c.2900T>A (p.Val967Glu)
c.2435T>A (p.Val812Glu)
18g.23539418C>ACA401792497NPC1c.2848G>T (p.Val950Leu)
c.1926G>T
n.481G>T
c.2899G>T (p.Val967Leu)
c.2434G>T (p.Val812Leu)
18g.23539418C=CA2290165743NPC1c.2848G= (p.Val950=)
c.1926G=
n.481G=
c.2899G= (p.Val967=)
c.2434G= (p.Val812=)
18g.23539418C>GCA401792498NPC1c.2848G>C (p.Val950Leu)
c.1926G>C
n.481G>C
c.2899G>C (p.Val967Leu)
c.2434G>C (p.Val812Leu)
18g.23539418C>TCA281534NPC1c.2848G>A (p.Val950Met)
c.1926G>A
n.481G>A
c.2899G>A (p.Val967Met)
c.2434G>A (p.Val812Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23539419C>ACA401792499NPC1c.2847G>T (p.Trp949Cys)
c.1925G>T
n.480G>T
c.2898G>T (p.Trp966Cys)
c.2433G>T (p.Trp811Cys)
18g.23539419C>GCA401792501NPC1c.2847G>C (p.Trp949Cys)
c.1925G>C
n.480G>C
c.2898G>C (p.Trp966Cys)
c.2433G>C (p.Trp811Cys)
18g.23539419C>TCA401792500NPC1c.2847G>A (p.Trp949Ter)
c.1925G>A
n.480G>A
c.2898G>A (p.Trp966Ter)
c.2433G>A (p.Trp811Ter)
 ClinVar dbSNP
18g.23539420C>ACA401792502NPC1c.2846G>T (p.Trp949Leu)
c.1924G>T
n.479G>T
c.2897G>T (p.Trp966Leu)
c.2432G>T (p.Trp811Leu)
18g.23539420C>GCA401792503NPC1c.2846G>C (p.Trp949Ser)
c.1924G>C
n.479G>C
c.2897G>C (p.Trp966Ser)
c.2432G>C (p.Trp811Ser)
18g.23539420C>TCA401792504NPC1c.2846G>A (p.Trp949Ter)
c.1924G>A
n.479G>A
c.2897G>A (p.Trp966Ter)
c.2432G>A (p.Trp811Ter)
18g.23539421A>CCA401792505NPC1c.2845T>G (p.Trp949Gly)
c.1923T>G
n.478T>G
c.2896T>G (p.Trp966Gly)
c.2431T>G (p.Trp811Gly)
18g.23539421A>GCA401792506NPC1c.2845T>C (p.Trp949Arg)
c.1923T>C
n.478T>C
c.2896T>C (p.Trp966Arg)
c.2431T>C (p.Trp811Arg)
18g.23539421A>TCA401792507NPC1c.2845T>A (p.Trp949Arg)
c.1923T>A
n.478T>A
c.2896T>A (p.Trp966Arg)
c.2431T>A (p.Trp811Arg)
18g.23539422G>ACA503322568NPC1c.2844C>T (p.Asp948=)
c.1922C>T
n.477C>T
c.2895C>T (p.Asp965=)
c.2430C>T (p.Asp810=)
 ClinVar
18g.23539422G>CCA401792508NPC1c.2844C>G (p.Asp948Glu)
c.1922C>G
n.477C>G
c.2895C>G (p.Asp965Glu)
c.2430C>G (p.Asp810Glu)
 ClinVar
18g.23539422G>TCA401792509NPC1c.2844C>A (p.Asp948Glu)
c.1922C>A
n.477C>A
c.2895C>A (p.Asp965Glu)
c.2430C>A (p.Asp810Glu)
18g.23539423T>ACA401792510NPC1c.2843A>T (p.Asp948Val)
c.1921A>T
n.476A>T
c.2894A>T (p.Asp965Val)
c.2429A>T (p.Asp810Val)
18g.23539423T>CCA401792511NPC1c.2843A>G (p.Asp948Gly)
c.1921A>G
n.476A>G
c.2894A>G (p.Asp965Gly)
c.2429A>G (p.Asp810Gly)
18g.23539423T>GCA401792512NPC1c.2843A>C (p.Asp948Ala)
c.1921A>C
n.476A>C
c.2894A>C (p.Asp965Ala)
c.2429A>C (p.Asp810Ala)
18g.23539424C>ACA401792515NPC1c.2842G>T (p.Asp948Tyr)
c.1920G>T
n.475G>T
c.2893G>T (p.Asp965Tyr)
c.2428G>T (p.Asp810Tyr)
 gnomAD v4
18g.23539424C=CA2290165744NPC1c.2842G= (p.Asp948=)
c.1920G=
n.475G=
c.2893G= (p.Asp965=)
c.2428G= (p.Asp810=)
18g.23539424C>GCA401792514NPC1c.2842G>C (p.Asp948His)
c.1920G>C
n.475G>C
c.2893G>C (p.Asp965His)
c.2428G>C (p.Asp810His)
 gnomAD v4
18g.23539424C>TCA401792513NPC1c.2842G>A (p.Asp948Asn)
c.1920G>A
n.475G>A
c.2893G>A (p.Asp965Asn)
c.2428G>A (p.Asp810Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.23539425G>ACA8912944NPC1c.2841C>T (p.Phe947=)
c.1919C>T
n.474C>T
c.2892C>T (p.Phe964=)
c.2427C>T (p.Phe809=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
18g.23539425G>CCA401792516NPC1c.2841C>G (p.Phe947Leu)
c.1919C>G
n.474C>G
c.2892C>G (p.Phe964Leu)
c.2427C>G (p.Phe809Leu)
 gnomAD v4
18g.23539425G=CA2290165745NPC1c.2841C= (p.Phe947=)
c.1919C=
n.474C=
c.2892C= (p.Phe964=)
c.2427C= (p.Phe809=)
18g.23539425G>TCA401792517NPC1c.2841C>A (p.Phe947Leu)
c.1919C>A
n.474C>A
c.2892C>A (p.Phe964Leu)
c.2427C>A (p.Phe809Leu)
18g.23539426A=CA2290165746NPC1c.2840T= (p.Phe947=)
c.1918T=
n.473T=
c.2891T= (p.Phe964=)
c.2426T= (p.Phe809=)
18g.23539426A>CCA401792518NPC1c.2840T>G (p.Phe947Cys)
c.1918T>G
n.473T>G
c.2891T>G (p.Phe964Cys)
c.2426T>G (p.Phe809Cys)
18g.23539426A>GCA401792519NPC1c.2840T>C (p.Phe947Ser)
c.1918T>C
n.473T>C
c.2891T>C (p.Phe964Ser)
c.2426T>C (p.Phe809Ser)
 dbSNP gnomAD v2 gnomAD v4
18g.23539426A>TCA401792520NPC1c.2840T>A (p.Phe947Tyr)
c.1918T>A
n.473T>A
c.2891T>A (p.Phe964Tyr)
c.2426T>A (p.Phe809Tyr)
18g.23539427A>CCA401792521NPC1c.2839T>G (p.Phe947Val)
c.1917T>G
n.472T>G
c.2890T>G (p.Phe964Val)
c.2425T>G (p.Phe809Val)
18g.23539427A>GCA401792522NPC1c.2839T>C (p.Phe947Leu)
c.1917T>C
n.472T>C
c.2890T>C (p.Phe964Leu)
c.2425T>C (p.Phe809Leu)
18g.23539427A>TCA401792523NPC1c.2839T>A (p.Phe947Ile)
c.1917T>A
n.472T>A
c.2890T>A (p.Phe964Ile)
c.2425T>A (p.Phe809Ile)
18g.23539428A>CCA401792524NPC1c.2838T>G (p.Tyr946Ter)
c.1916T>G
n.471T>G
c.2889T>G (p.Tyr963Ter)
c.2424T>G (p.Tyr808Ter)
18g.23539428A>GCA503322569NPC1c.2838T>C (p.Tyr946=)
c.1916T>C
n.471T>C
c.2889T>C (p.Tyr963=)
c.2424T>C (p.Tyr808=)
18g.23539428A>TCA401792525NPC1c.2838T>A (p.Tyr946Ter)
c.1916T>A
n.471T>A
c.2889T>A (p.Tyr963Ter)
c.2424T>A (p.Tyr808Ter)
18g.23539429T>ACA401792528NPC1c.2837A>T (p.Tyr946Phe)
c.1915A>T
n.470A>T
c.2888A>T (p.Tyr963Phe)
c.2423A>T (p.Tyr808Phe)
18g.23539429T>CCA401792527NPC1c.2837A>G (p.Tyr946Cys)
c.1915A>G
n.470A>G
c.2888A>G (p.Tyr963Cys)
c.2423A>G (p.Tyr808Cys)
18g.23539429T>GCA401792526NPC1c.2837A>C (p.Tyr946Ser)
c.1915A>C
n.470A>C
c.2888A>C (p.Tyr963Ser)
c.2423A>C (p.Tyr808Ser)
18g.23539430A>CCA401792529NPC1c.2836T>G (p.Tyr946Asp)
c.1914T>G
n.469T>G
c.2887T>G (p.Tyr963Asp)
c.2422T>G (p.Tyr808Asp)
18g.23539430A>GCA401792531NPC1c.2836T>C (p.Tyr946His)
c.1914T>C
n.469T>C
c.2887T>C (p.Tyr963His)
c.2422T>C (p.Tyr808His)
 gnomAD v4
18g.23539430A>TCA401792530NPC1c.2836T>A (p.Tyr946Asn)
c.1914T>A
n.469T>A
c.2887T>A (p.Tyr963Asn)
c.2422T>A (p.Tyr808Asn)
 ClinVar
18g.23539431A>CCA401792532NPC1c.2835T>G (p.Asp945Glu)
c.1913T>G
n.468T>G
c.2886T>G (p.Asp962Glu)
c.2421T>G (p.Asp807Glu)
18g.23539431A>GCA503322570NPC1c.2835T>C (p.Asp945=)
c.1913T>C
n.468T>C
c.2886T>C (p.Asp962=)
c.2421T>C (p.Asp807=)
 ClinVar
18g.23539431A>TCA401792533NPC1c.2835T>A (p.Asp945Glu)
c.1913T>A
n.468T>A
c.2886T>A (p.Asp962Glu)
c.2421T>A (p.Asp807Glu)
18g.23539432T>ACA401792534NPC1c.2834A>T (p.Asp945Val)
c.1912A>T
n.467A>T
c.2885A>T (p.Asp962Val)
c.2420A>T (p.Asp807Val)
18g.23539432T>CCA401792535NPC1c.2834A>G (p.Asp945Gly)
c.1912A>G
n.467A>G
c.2885A>G (p.Asp962Gly)
c.2420A>G (p.Asp807Gly)
18g.23539432T>GCA401792536NPC1c.2834A>C (p.Asp945Ala)
c.1912A>C
n.467A>C
c.2885A>C (p.Asp962Ala)
c.2420A>C (p.Asp807Ala)
18g.23539433C>ACA401792537NPC1c.2833G>T (p.Asp945Tyr)
c.1911G>T
n.466G>T
c.2884G>T (p.Asp962Tyr)
c.2419G>T (p.Asp807Tyr)
 gnomAD v4 COSMIC
18g.23539433C=CA2290165747NPC1c.2833G= (p.Asp945=)
c.1911G=
n.466G=
c.2884G= (p.Asp962=)
c.2419G= (p.Asp807=)
18g.23539433C>GCA401792538NPC1c.2833G>C (p.Asp945His)
c.1911G>C
n.466G>C
c.2884G>C (p.Asp962His)
c.2419G>C (p.Asp807His)
18g.23539433C>TCA401792539NPC1c.2833G>A (p.Asp945Asn)
c.1911G>A
n.466G>A
c.2884G>A (p.Asp962Asn)
c.2419G>A (p.Asp807Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23539434G>ACA8912945NPC1c.2832C>T (p.Asp944=)
c.1910C>T
n.465C>T
c.2883C>T (p.Asp961=)
c.2418C>T (p.Asp806=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23539434G>CCA401792540NPC1c.2832C>G (p.Asp944Glu)
c.1910C>G
n.465C>G
c.2883C>G (p.Asp961Glu)
c.2418C>G (p.Asp806Glu)
18g.23539434G=CA2290165748NPC1c.2832C= (p.Asp944=)
c.1910C=
n.465C=
c.2883C= (p.Asp961=)
c.2418C= (p.Asp806=)
18g.23539434G>TCA401792541NPC1c.2832C>A (p.Asp944Glu)
c.1910C>A
n.465C>A
c.2883C>A (p.Asp961Glu)
c.2418C>A (p.Asp806Glu)
18g.23539435T>ACA401792544NPC1c.2831A>T (p.Asp944Val)
c.1909A>T
n.464A>T
c.2882A>T (p.Asp961Val)
c.2417A>T (p.Asp806Val)
18g.23539435T>CCA401792542NPC1c.2831A>G (p.Asp944Gly)
c.1909A>G
n.464A>G
c.2882A>G (p.Asp961Gly)
c.2417A>G (p.Asp806Gly)
18g.23539435T>GCA401792543NPC1c.2831A>C (p.Asp944Ala)
c.1909A>C
n.464A>C
c.2882A>C (p.Asp961Ala)
c.2417A>C (p.Asp806Ala)
18g.23539436C>ACA401792545NPC1c.2830G>T (p.Asp944Tyr)
c.1908G>T
n.463G>T
c.2881G>T (p.Asp961Tyr)
c.2416G>T (p.Asp806Tyr)
18g.23539436C=CA2290165749NPC1c.2830G= (p.Asp944=)
c.1908G=
n.463G=
c.2881G= (p.Asp961=)
c.2416G= (p.Asp806=)
18g.23539436C>GCA401792546NPC1c.2830G>C (p.Asp944His)
c.1908G>C
n.463G>C
c.2881G>C (p.Asp961His)
c.2416G>C (p.Asp806His)
18g.23539436C>TCA8912946NPC1c.2830G>A (p.Asp944Asn)
c.1908G>A
n.463G>A
c.2881G>A (p.Asp961Asn)
c.2416G>A (p.Asp806Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23539437G>ACA503322571NPC1c.2829C>T (p.Ile943=)
c.1907C>T
n.462C>T
c.2880C>T (p.Ile960=)
c.2415C>T (p.Ile805=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23539437G>CCA401792547NPC1c.2829C>G (p.Ile943Met)
c.1907C>G
n.462C>G
c.2880C>G (p.Ile960Met)
c.2415C>G (p.Ile805Met)
 gnomAD v4
18g.23539437G=CA2290165750NPC1c.2829C= (p.Ile943=)
c.1907C=
n.462C=
c.2880C= (p.Ile960=)
c.2415C= (p.Ile805=)
18g.23539437G>TCA503322572NPC1c.2829C>A (p.Ile943=)
c.1907C>A
n.462C>A
c.2880C>A (p.Ile960=)
c.2415C>A (p.Ile805=)
18g.23539438A>CCA401792548NPC1c.2828T>G (p.Ile943Ser)
c.1906T>G
n.461T>G
c.2879T>G (p.Ile960Ser)
c.2414T>G (p.Ile805Ser)
18g.23539438A>GCA401792549NPC1c.2828T>C (p.Ile943Thr)
c.1906T>C
n.461T>C
c.2879T>C (p.Ile960Thr)
c.2414T>C (p.Ile805Thr)
18g.23539438A>TCA401792550NPC1c.2828T>A (p.Ile943Asn)
c.1906T>A
n.461T>A
c.2879T>A (p.Ile960Asn)
c.2414T>A (p.Ile805Asn)
18g.23539439T>ACA401792551NPC1c.2827A>T (p.Ile943Phe)
c.1905A>T
n.460A>T
c.2878A>T (p.Ile960Phe)
c.2413A>T (p.Ile805Phe)
18g.23539439T>CCA401792552NPC1c.2827A>G (p.Ile943Val)
c.1905A>G
n.460A>G
c.2878A>G (p.Ile960Val)
c.2413A>G (p.Ile805Val)
 gnomAD v4
18g.23539439T>GCA401792553NPC1c.2827A>C (p.Ile943Leu)
c.1905A>C
n.460A>C
c.2878A>C (p.Ile960Leu)
c.2413A>C (p.Ile805Leu)
18g.23539440C>ACA401792555NPC1c.2826G>T (p.Trp942Cys)
c.1904G>T
n.459G>T
c.2877G>T (p.Trp959Cys)
c.2412G>T (p.Trp804Cys)
 gnomAD v4
18g.23539440C>GCA401792556NPC1c.2826G>C (p.Trp942Cys)
c.1904G>C
n.459G>C
c.2877G>C (p.Trp959Cys)
c.2412G>C (p.Trp804Cys)
 gnomAD v4
18g.23539440C>TCA401792554NPC1c.2826G>A (p.Trp942Ter)
c.1904G>A
n.459G>A
c.2877G>A (p.Trp959Ter)
c.2412G>A (p.Trp804Ter)
18g.23539441C>ACA401792557NPC1c.2825G>T (p.Trp942Leu)
c.1903G>T
n.458G>T
c.2876G>T (p.Trp959Leu)
c.2411G>T (p.Trp804Leu)
18g.23539441C=CA2290165751NPC1c.2825G= (p.Trp942=)
c.1903G=
n.458G=
c.2876G= (p.Trp959=)
c.2411G= (p.Trp804=)
18g.23539441C>GCA401792558NPC1c.2825G>C (p.Trp942Ser)
c.1903G>C
n.458G>C
c.2876G>C (p.Trp959Ser)
c.2411G>C (p.Trp804Ser)
18g.23539441C>TCA401792559NPC1c.2825G>A (p.Trp942Ter)
c.1903G>A
n.458G>A
c.2876G>A (p.Trp959Ter)
c.2411G>A (p.Trp804Ter)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23539442A>CCA401792560NPC1c.2824T>G (p.Trp942Gly)
c.1902T>G
n.457T>G
c.2875T>G (p.Trp959Gly)
c.2410T>G (p.Trp804Gly)
18g.23539442A>GCA401792561NPC1c.2824T>C (p.Trp942Arg)
c.1902T>C
n.457T>C
c.2875T>C (p.Trp959Arg)
c.2410T>C (p.Trp804Arg)
18g.23539442A>TCA401792562NPC1c.2824T>A (p.Trp942Arg)
c.1902T>A
n.457T>A
c.2875T>A (p.Trp959Arg)
c.2410T>A (p.Trp804Arg)
18g.23539443G>ACA503322574NPC1c.2823C>T (p.Ser941=)
c.1901C>T
n.456C>T
c.2874C>T (p.Ser958=)
c.2409C>T (p.Ser803=)
 dbSNP gnomAD v3 gnomAD v4
18g.23539443G>CCA503322575NPC1c.2823C>G (p.Ser941=)
c.1901C>G
n.456C>G
c.2874C>G (p.Ser958=)
c.2409C>G (p.Ser803=)
 dbSNP
18g.23539443G=CA2290165752NPC1c.2823C= (p.Ser941=)
c.1901C=
n.456C=
c.2874C= (p.Ser958=)
c.2409C= (p.Ser803=)
18g.23539443G>TCA503322573NPC1c.2823C>A (p.Ser941=)
c.1901C>A
n.456C>A
c.2874C>A (p.Ser958=)
c.2409C>A (p.Ser803=)
18g.23539444delCA2499225061NPC1c.2823del (p.Trp942GlyfsTer9)
c.1901del
n.456del
c.2874del (p.Trp959GlyfsTer9)
c.2409del (p.Trp804GlyfsTer9)
 ClinVar dbSNP
18g.23539444G>ACA401792563NPC1c.2822C>T (p.Ser941Phe)
c.1900C>T
n.455C>T
c.2873C>T (p.Ser958Phe)
c.2408C>T (p.Ser803Phe)
18g.23539444G>CCA401792564NPC1c.2822C>G (p.Ser941Cys)
c.1900C>G
n.455C>G
c.2873C>G (p.Ser958Cys)
c.2408C>G (p.Ser803Cys)
18g.23539444G>TCA401792565NPC1c.2822C>A (p.Ser941Tyr)
c.1900C>A
n.455C>A
c.2873C>A (p.Ser958Tyr)
c.2408C>A (p.Ser803Tyr)
18g.23539445A>CCA401792566NPC1c.2821T>G (p.Ser941Ala)
c.1899T>G
n.454T>G
c.2872T>G (p.Ser958Ala)
c.2407T>G (p.Ser803Ala)
18g.23539445A>GCA401792567NPC1c.2821T>C (p.Ser941Pro)
c.1899T>C
n.454T>C
c.2872T>C (p.Ser958Pro)
c.2407T>C (p.Ser803Pro)
18g.23539445A>TCA401792568NPC1c.2821T>A (p.Ser941Thr)
c.1899T>A
n.454T>A
c.2872T>A (p.Ser958Thr)
c.2407T>A (p.Ser803Thr)
18g.23539446C>ACA503322576NPC1c.2820G>T (p.Ser940=)
c.1898G>T
n.453G>T
c.2871G>T (p.Ser957=)
c.2406G>T (p.Ser802=)
18g.23539446C=CA2290165753NPC1c.2820G= (p.Ser940=)
c.1898G=
n.453G=
c.2871G= (p.Ser957=)
c.2406G= (p.Ser802=)
18g.23539446C>GCA503322577NPC1c.2820G>C (p.Ser940=)
c.1898G>C
n.453G>C
c.2871G>C (p.Ser957=)
c.2406G>C (p.Ser802=)
18g.23539446C>TCA8912947NPC1c.2820G>A (p.Ser940=)
c.1898G>A
n.453G>A
c.2871G>A (p.Ser957=)
c.2406G>A (p.Ser802=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23539447G>ACA273881NPC1c.2819C>T (p.Ser940Leu)
c.1897C>T
n.452C>T
c.2870C>T (p.Ser957Leu)
c.2405C>T (p.Ser802Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23539447G>CCA401792570NPC1c.2819C>G (p.Ser940Trp)
c.1897C>G
n.452C>G
c.2870C>G (p.Ser957Trp)
c.2405C>G (p.Ser802Trp)
18g.23539447G=CA2290165754NPC1c.2819C= (p.Ser940=)
c.1897C=
n.452C=
c.2870C= (p.Ser957=)
c.2405C= (p.Ser802=)
18g.23539447G>TCA401792569NPC1c.2819C>A (p.Ser940Ter)
c.1897C>A
n.452C>A
c.2870C>A (p.Ser957Ter)
c.2405C>A (p.Ser802Ter)
18g.23539448A>CCA401792571NPC1c.2818T>G (p.Ser940Ala)
c.1896T>G
n.451T>G
c.2869T>G (p.Ser957Ala)
c.2404T>G (p.Ser802Ala)
18g.23539448A>GCA401792572NPC1c.2818T>C (p.Ser940Pro)
c.1896T>C
n.451T>C
c.2869T>C (p.Ser957Pro)
c.2404T>C (p.Ser802Pro)
 ClinVar
18g.23539448A>TCA401792573NPC1c.2818T>A (p.Ser940Thr)
c.1896T>A
n.451T>A
c.2869T>A (p.Ser957Thr)
c.2404T>A (p.Ser802Thr)
18g.23539449G>ACA297081193NPC1c.2817C>T (p.Pro939=)
c.1895C>T
n.450C>T
c.2868C>T (p.Pro956=)
c.2403C>T (p.Pro801=)
 dbSNP
18g.23539449G>CCA8912948NPC1c.2817C>G (p.Pro939=)
c.1895C>G
n.450C>G
c.2868C>G (p.Pro956=)
c.2403C>G (p.Pro801=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23539449G=CA2290165755NPC1c.2817C= (p.Pro939=)
c.1895C=
n.450C=
c.2868C= (p.Pro956=)
c.2403C= (p.Pro801=)
18g.23539449G>TCA503322578NPC1c.2817C>A (p.Pro939=)
c.1895C>A
n.450C>A
c.2868C>A (p.Pro956=)
c.2403C>A (p.Pro801=)
 gnomAD v4
18g.23539453delCA2641273127NPC1c.2817del (p.Ser940ArgfsTer11)
c.1895del
n.450del
c.2868del (p.Ser957ArgfsTer11)
c.2403del (p.Ser802ArgfsTer11)
 gnomAD v4
18g.23539450G>ACA401792574NPC1c.2816C>T (p.Pro939Leu)
c.1894C>T
n.449C>T
c.2867C>T (p.Pro956Leu)
c.2402C>T (p.Pro801Leu)
18g.23539450G>CCA401792575NPC1c.2816C>G (p.Pro939Arg)
c.1894C>G
n.449C>G
c.2867C>G (p.Pro956Arg)
c.2402C>G (p.Pro801Arg)
18g.23539450G>TCA401792576NPC1c.2816C>A (p.Pro939His)
c.1894C>A
n.449C>A
c.2867C>A (p.Pro956His)
c.2402C>A (p.Pro801His)
18g.23539451G>ACA401792577NPC1c.2815C>T (p.Pro939Ser)
c.1893C>T
n.448C>T
c.2866C>T (p.Pro956Ser)
c.2401C>T (p.Pro801Ser)
 gnomAD v4
18g.23539451G>CCA8912949NPC1c.2815C>G (p.Pro939Ala)
c.1893C>G
n.448C>G
c.2866C>G (p.Pro956Ala)
c.2401C>G (p.Pro801Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23539451G=CA2290165756NPC1c.2815C= (p.Pro939=)
c.1893C=
n.448C=
c.2866C= (p.Pro956=)
c.2401C= (p.Pro801=)
18g.23539451G>TCA401792578NPC1c.2815C>A (p.Pro939Thr)
c.1893C>A
n.448C>A
c.2866C>A (p.Pro956Thr)
c.2401C>A (p.Pro801Thr)
18g.23539452G>ACA503322579NPC1c.2814C>T (p.Ala938=)
c.1892C>T
n.447C>T
c.2865C>T (p.Ala955=)
c.2400C>T (p.Ala800=)
18g.23539452G>CCA503322580NPC1c.2814C>G (p.Ala938=)
c.1892C>G
n.447C>G
c.2865C>G (p.Ala955=)
c.2400C>G (p.Ala800=)
18g.23539452G>TCA503322581NPC1c.2814C>A (p.Ala938=)
c.1892C>A
n.447C>A
c.2865C>A (p.Ala955=)
c.2400C>A (p.Ala800=)
18g.23539453G>ACA401792579NPC1c.2813C>T (p.Ala938Val)
c.1891C>T
n.446C>T
c.2864C>T (p.Ala955Val)
c.2399C>T (p.Ala800Val)
18g.23539453G>CCA401792580NPC1c.2813C>G (p.Ala938Gly)
c.1891C>G
n.446C>G
c.2864C>G (p.Ala955Gly)
c.2399C>G (p.Ala800Gly)
18g.23539453G>TCA401792581NPC1c.2813C>A (p.Ala938Asp)
c.1891C>A
n.446C>A
c.2864C>A (p.Ala955Asp)
c.2399C>A (p.Ala800Asp)
18g.23539454C>ACA401792582NPC1c.2812G>T (p.Ala938Ser)
c.1890G>T
n.445G>T
c.2863G>T (p.Ala955Ser)
c.2398G>T (p.Ala800Ser)
18g.23539454C=CA2290165757NPC1c.2812G= (p.Ala938=)
c.1890G=
n.445G=
c.2863G= (p.Ala955=)
c.2398G= (p.Ala800=)
18g.23539454C>GCA401792583NPC1c.2812G>C (p.Ala938Pro)
c.1890G>C
n.445G>C
c.2863G>C (p.Ala955Pro)
c.2398G>C (p.Ala800Pro)
18g.23539454C>TCA8912950NPC1c.2812G>A (p.Ala938Thr)
c.1890G>A
n.445G>A
c.2863G>A (p.Ala955Thr)
c.2398G>A (p.Ala800Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23539455G>ACA8912951NPC1c.2811C>T (p.Phe937=)
c.1889C>T
n.444C>T
c.2862C>T (p.Phe954=)
c.2397C>T (p.Phe799=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
18g.23539455G>CCA401792584NPC1c.2811C>G (p.Phe937Leu)
c.1889C>G
n.444C>G
c.2862C>G (p.Phe954Leu)
c.2397C>G (p.Phe799Leu)
18g.23539455G=CA2290165758NPC1c.2811C= (p.Phe937=)
c.1889C=
n.444C=
c.2862C= (p.Phe954=)
c.2397C= (p.Phe799=)
18g.23539455G>TCA401792585NPC1c.2811C>A (p.Phe937Leu)
c.1889C>A
n.444C>A
c.2862C>A (p.Phe954Leu)
c.2397C>A (p.Phe799Leu)
 dbSNP

Number of alleles fetched