Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.23539352_23539353delinsTA | CA2290165718 | NPC1 | c.2911+2_2911+3delinsTA (n.2911+2_2911+3delinsTA) c.1989+2_1989+3delinsTA n.544+2_544+3delinsTA c.2962+2_2962+3delinsTA (n.2962+2_2962+3delinsTA) c.2497+2_2497+3delinsTA (n.2497+2_2497+3delinsTA) | |
18 | g.23539353del | CA916083637 | NPC1 | c.2911+2del (n.2911+2del) c.1989+2del n.544+2del c.2962+2del (n.2962+2del) c.2497+2del (n.2497+2del) | ClinVar dbSNP |
18 | g.23539353A>C | CA401792355 | NPC1 | c.2911+2T>G (n.2911+2T>G) c.1989+2T>G n.544+2T>G c.2962+2T>G (n.2962+2T>G) c.2497+2T>G (n.2497+2T>G) | |
18 | g.23539353A>G | CA401792357 | NPC1 | c.2911+2T>C (n.2911+2T>C) c.1989+2T>C n.544+2T>C c.2962+2T>C (n.2962+2T>C) c.2497+2T>C (n.2497+2T>C) | gnomAD v4 |
18 | g.23539353A>T | CA401792356 | NPC1 | c.2911+2T>A (n.2911+2T>A) c.1989+2T>A n.544+2T>A c.2962+2T>A (n.2962+2T>A) c.2497+2T>A (n.2497+2T>A) | |
18 | g.23539353_23539354del | CA913014989 | NPC1 | c.2911+1_2911+2del (n.2911+1_2911+2del) c.1989+1_1989+2del n.544+1_544+2del c.2962+1_2962+2del (n.2962+1_2962+2del) c.2497+1_2497+2del (n.2497+1_2497+2del) | |
18 | g.23539353_23539354delinsAC | CA2290165719 | NPC1 | c.2911+1_2911+2delinsGT (n.2911+1_2911+2delinsGT) c.1989+1_1989+2delinsGT n.544+1_544+2delinsGT c.2962+1_2962+2delinsGT (n.2962+1_2962+2delinsGT) c.2497+1_2497+2delinsGT (n.2497+1_2497+2delinsGT) | |
18 | g.23539354C>A | CA401792358 | NPC1 | c.2911+1G>T (n.2911+1G>T) c.1989+1G>T n.544+1G>T c.2962+1G>T (n.2962+1G>T) c.2497+1G>T (n.2497+1G>T) | |
18 | g.23539354C= | CA2290165720 | NPC1 | c.2911+1G= (n.2911+1G=) c.1989+1G= n.544+1G= c.2962+1G= (n.2962+1G=) c.2497+1G= (n.2497+1G=) | |
18 | g.23539354C>G | CA401792359 | NPC1 | c.2911+1G>C (n.2911+1G>C) c.1989+1G>C n.544+1G>C c.2962+1G>C (n.2962+1G>C) c.2497+1G>C (n.2497+1G>C) | |
18 | g.23539354C>T | CA401792360 | NPC1 | c.2911+1G>A (n.2911+1G>A) c.1989+1G>A n.544+1G>A c.2962+1G>A (n.2962+1G>A) c.2497+1G>A (n.2497+1G>A) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.23539355del | CA658824815 | NPC1 | c.2911+1del c.1989+1del n.544+1del c.2962+1del c.2497+1del | ClinVar dbSNP |
18 | g.23539355C>A | CA401792361 | NPC1 | c.2911G>T (p.Val971Leu) c.1989G>T n.544G>T c.2962G>T (p.Val988Leu) c.2497G>T (p.Val833Leu) | dbSNP |
18 | g.23539355C= | CA2290165721 | NPC1 | c.2911G= (p.Val971=) c.1989G= n.544G= c.2962G= (p.Val988=) c.2497G= (p.Val833=) | |
18 | g.23539355C>G | CA401792362 | NPC1 | c.2911G>C (p.Val971Leu) c.1989G>C n.544G>C c.2962G>C (p.Val988Leu) c.2497G>C (p.Val833Leu) | |
18 | g.23539355C>T | CA297081147 | NPC1 | c.2911G>A (p.Val971Met) c.1989G>A n.544G>A c.2962G>A (p.Val988Met) c.2497G>A (p.Val833Met) | ClinVar dbSNP |
18 | g.23539356del | CA2576470504 | NPC1 | c.2910del (p.Val971TrpfsTer12) c.1988del n.543del c.2961del (p.Val988TrpfsTer12) c.2496del (p.Val833TrpfsTer12) | |
18 | g.23539356T>A | CA503322530 | NPC1 | c.2910A>T (p.Ser970=) c.1988A>T n.543A>T c.2961A>T (p.Ser987=) c.2496A>T (p.Ser832=) | |
18 | g.23539356T>C | CA503322531 | NPC1 | c.2910A>G (p.Ser970=) c.1988A>G n.543A>G c.2961A>G (p.Ser987=) c.2496A>G (p.Ser832=) | ClinVar gnomAD v4 |
18 | g.23539356T>G | CA503322532 | NPC1 | c.2910A>C (p.Ser970=) c.1988A>C n.543A>C c.2961A>C (p.Ser987=) c.2496A>C (p.Ser832=) | |
18 | g.23539356_23539357insA | CA2695227439 | NPC1 | c.2909_2910insT (p.Val971SerfsTer3) c.1987_1988insT n.542_543insT c.2960_2961insT (p.Val988SerfsTer3) c.2495_2496insT (p.Val833SerfsTer3) | |
18 | g.23539357G>A | CA401792363 | NPC1 | c.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 |
18 | g.23539357G>C | CA401792364 | NPC1 | c.2909C>G (p.Ser970Ter) c.1987C>G n.542C>G c.2960C>G (p.Ser987Ter) c.2495C>G (p.Ser832Ter) | |
18 | g.23539357G= | CA2290165722 | NPC1 | c.2909C= (p.Ser970=) c.1987C= n.542C= c.2960C= (p.Ser987=) c.2495C= (p.Ser832=) | |
18 | g.23539357G>T | CA401792365 | NPC1 | c.2909C>A (p.Ser970Ter) c.1987C>A n.542C>A c.2960C>A (p.Ser987Ter) c.2495C>A (p.Ser832Ter) | gnomAD v4 |
18 | g.23539357dup | CA913014990 | NPC1 | c.2909dup (p.Val971SerfsTer3) c.1987dup n.542dup c.2960dup (p.Val988SerfsTer3) c.2495dup (p.Val833SerfsTer3) | |
18 | g.23539358A>C | CA401792366 | NPC1 | c.2908T>G (p.Ser970Ala) c.1986T>G n.541T>G c.2959T>G (p.Ser987Ala) c.2494T>G (p.Ser832Ala) | |
18 | g.23539358A>G | CA401792367 | NPC1 | c.2908T>C (p.Ser970Pro) c.1986T>C n.541T>C c.2959T>C (p.Ser987Pro) c.2494T>C (p.Ser832Pro) | |
18 | g.23539358A>T | CA401792368 | NPC1 | c.2908T>A (p.Ser970Thr) c.1986T>A n.541T>A c.2959T>A (p.Ser987Thr) c.2494T>A (p.Ser832Thr) | |
18 | g.23539359dup | CA2580095509 | NPC1 | c.2908dup (p.Ser970PhefsTer4) c.1986dup n.541dup c.2959dup (p.Ser987PhefsTer4) c.2494dup (p.Ser832PhefsTer4) | ClinVar gnomAD v4 |
18 | g.23539358_23539359dup | CA8912936 | NPC1 | c.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 |
18 | g.23539359A>C | CA503322534 | NPC1 | c.2907T>G (p.Ala969=) c.1985T>G n.540T>G c.2958T>G (p.Ala986=) c.2493T>G (p.Ala831=) | |
18 | g.23539359A>G | CA503322535 | NPC1 | c.2907T>C (p.Ala969=) c.1985T>C n.540T>C c.2958T>C (p.Ala986=) c.2493T>C (p.Ala831=) | |
18 | g.23539359A>T | CA503322533 | NPC1 | c.2907T>A (p.Ala969=) c.1985T>A n.540T>A c.2958T>A (p.Ala986=) c.2493T>A (p.Ala831=) | |
18 | g.23539360G>A | CA401792369 | NPC1 | c.2906C>T (p.Ala969Val) c.1984C>T n.539C>T c.2957C>T (p.Ala986Val) c.2492C>T (p.Ala831Val) | gnomAD v4 |
18 | g.23539360G>C | CA401792371 | NPC1 | c.2906C>G (p.Ala969Gly) c.1984C>G n.539C>G c.2957C>G (p.Ala986Gly) c.2492C>G (p.Ala831Gly) | |
18 | g.23539360G>T | CA401792370 | NPC1 | c.2906C>A (p.Ala969Asp) c.1984C>A n.539C>A c.2957C>A (p.Ala986Asp) c.2492C>A (p.Ala831Asp) | gnomAD v4 COSMIC |
18 | g.23539361C>A | CA401792372 | NPC1 | c.2905G>T (p.Ala969Ser) c.1983G>T n.538G>T c.2956G>T (p.Ala986Ser) c.2491G>T (p.Ala831Ser) | |
18 | g.23539361C>G | CA401792373 | NPC1 | c.2905G>C (p.Ala969Pro) c.1983G>C n.538G>C c.2956G>C (p.Ala986Pro) c.2491G>C (p.Ala831Pro) | |
18 | g.23539361C>T | CA401792374 | NPC1 | c.2905G>A (p.Ala969Thr) c.1983G>A n.538G>A c.2956G>A (p.Ala986Thr) c.2491G>A (p.Ala831Thr) | |
18 | g.23539362A>C | CA401792375 | NPC1 | c.2904T>G (p.Asn968Lys) c.1982T>G n.537T>G c.2955T>G (p.Asn985Lys) c.2490T>G (p.Asn830Lys) | |
18 | g.23539362A>G | CA503322536 | NPC1 | c.2904T>C (p.Asn968=) c.1982T>C n.537T>C c.2955T>C (p.Asn985=) c.2490T>C (p.Asn830=) | |
18 | g.23539362A>T | CA401792376 | NPC1 | c.2904T>A (p.Asn968Lys) c.1982T>A n.537T>A c.2955T>A (p.Asn985Lys) c.2490T>A (p.Asn830Lys) | |
18 | g.23539363T>A | CA401792377 | NPC1 | c.2903A>T (p.Asn968Ile) c.1981A>T n.536A>T c.2954A>T (p.Asn985Ile) c.2489A>T (p.Asn830Ile) | |
18 | g.23539363T>C | CA8912937 | NPC1 | c.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 |
18 | g.23539363T>G | CA401792378 | NPC1 | c.2903A>C (p.Asn968Thr) c.1981A>C n.536A>C c.2954A>C (p.Asn985Thr) c.2489A>C (p.Asn830Thr) | |
18 | g.23539363T= | CA2290165723 | NPC1 | c.2903A= (p.Asn968=) c.1981A= n.536A= c.2954A= (p.Asn985=) c.2489A= (p.Asn830=) | |
18 | g.23539364T>A | CA401792379 | NPC1 | c.2902A>T (p.Asn968Tyr) c.1980A>T n.535A>T c.2953A>T (p.Asn985Tyr) c.2488A>T (p.Asn830Tyr) | |
18 | g.23539364T>C | CA401792380 | NPC1 | c.2902A>G (p.Asn968Asp) c.1980A>G n.535A>G c.2953A>G (p.Asn985Asp) c.2488A>G (p.Asn830Asp) | |
18 | g.23539364T>G | CA401792381 | NPC1 | c.2902A>C (p.Asn968His) c.1980A>C n.535A>C c.2953A>C (p.Asn985His) c.2488A>C (p.Asn830His) | |
18 | g.23539365G>A | CA503322537 | NPC1 | c.2901C>T (p.Cys967=) c.1979C>T n.534C>T c.2952C>T (p.Cys984=) c.2487C>T (p.Cys829=) | |
18 | g.23539365G>C | CA401792382 | NPC1 | c.2901C>G (p.Cys967Trp) c.1979C>G n.534C>G c.2952C>G (p.Cys984Trp) c.2487C>G (p.Cys829Trp) | |
18 | g.23539365G= | CA2290165724 | NPC1 | c.2901C= (p.Cys967=) c.1979C= n.534C= c.2952C= (p.Cys984=) c.2487C= (p.Cys829=) | |
18 | g.23539365G>T | CA401792383 | NPC1 | c.2901C>A (p.Cys967Ter) c.1979C>A n.534C>A c.2952C>A (p.Cys984Ter) c.2487C>A (p.Cys829Ter) | ClinVar dbSNP |
18 | g.23539366C>A | CA401792384 | NPC1 | c.2900G>T (p.Cys967Phe) c.1978G>T n.533G>T c.2951G>T (p.Cys984Phe) c.2486G>T (p.Cys829Phe) | |
18 | g.23539366C>G | CA401792385 | NPC1 | c.2900G>C (p.Cys967Ser) c.1978G>C n.533G>C c.2951G>C (p.Cys984Ser) c.2486G>C (p.Cys829Ser) | |
18 | g.23539366C>T | CA401792386 | NPC1 | c.2900G>A (p.Cys967Tyr) c.1978G>A n.533G>A c.2951G>A (p.Cys984Tyr) c.2486G>A (p.Cys829Tyr) | |
18 | g.23539367A>C | CA401792387 | NPC1 | c.2899T>G (p.Cys967Gly) c.1977T>G n.532T>G c.2950T>G (p.Cys984Gly) c.2485T>G (p.Cys829Gly) | |
18 | g.23539367A>G | CA401792388 | NPC1 | c.2899T>C (p.Cys967Arg) c.1977T>C n.532T>C c.2950T>C (p.Cys984Arg) c.2485T>C (p.Cys829Arg) | |
18 | g.23539367A>T | CA401792389 | NPC1 | c.2899T>A (p.Cys967Ser) c.1977T>A n.532T>A c.2950T>A (p.Cys984Ser) c.2485T>A (p.Cys829Ser) | |
18 | g.23539368G>A | CA503322538 | NPC1 | c.2898C>T (p.Phe966=) c.1976C>T n.531C>T c.2949C>T (p.Phe983=) c.2484C>T (p.Phe828=) | ClinVar dbSNP gnomAD v4 |
18 | g.23539368G>C | CA401792390 | NPC1 | c.2898C>G (p.Phe966Leu) c.1976C>G n.531C>G c.2949C>G (p.Phe983Leu) c.2484C>G (p.Phe828Leu) | |
18 | g.23539368G>T | CA401792391 | NPC1 | c.2898C>A (p.Phe966Leu) c.1976C>A n.531C>A c.2949C>A (p.Phe983Leu) c.2484C>A (p.Phe828Leu) | |
18 | g.23539369A>C | CA401792392 | NPC1 | c.2897T>G (p.Phe966Cys) c.1975T>G n.530T>G c.2948T>G (p.Phe983Cys) c.2483T>G (p.Phe828Cys) | |
18 | g.23539369A>G | CA401792393 | NPC1 | c.2897T>C (p.Phe966Ser) c.1975T>C n.530T>C c.2948T>C (p.Phe983Ser) c.2483T>C (p.Phe828Ser) | |
18 | g.23539369A>T | CA401792394 | NPC1 | c.2897T>A (p.Phe966Tyr) c.1975T>A n.530T>A c.2948T>A (p.Phe983Tyr) c.2483T>A (p.Phe828Tyr) | ClinVar dbSNP |
18 | g.23539369_23539383del | CA2695227440 | NPC1 | c.2883_2897del (p.Ile962_Phe966del) c.1961_1975del n.516_530del c.2934_2948del (p.Ile979_Phe983del) c.2469_2483del (p.Ile824_Phe828del) | |
18 | g.23539369_23539384delinsC | CA2580095511 | NPC1 | c.2882_2897delinsG (p.Asn961_Phe966delinsSer) c.1960_1975delinsG n.515_530delinsG c.2933_2948delinsG (p.Asn978_Phe983delinsSer) c.2468_2483delinsG (p.Asn823_Phe828delinsSer) | ClinVar |
18 | g.23539370A>C | CA401792395 | NPC1 | c.2896T>G (p.Phe966Val) c.1974T>G n.529T>G c.2947T>G (p.Phe983Val) c.2482T>G (p.Phe828Val) | |
18 | g.23539370A>G | CA401792396 | NPC1 | c.2896T>C (p.Phe966Leu) c.1974T>C n.529T>C c.2947T>C (p.Phe983Leu) c.2482T>C (p.Phe828Leu) | |
18 | g.23539370A>T | CA401792397 | NPC1 | c.2896T>A (p.Phe966Ile) c.1974T>A n.529T>A c.2947T>A (p.Phe983Ile) c.2482T>A (p.Phe828Ile) | |
18 | g.23539371C>A | CA401792398 | NPC1 | c.2895G>T (p.Gln965His) c.1973G>T n.528G>T c.2946G>T (p.Gln982His) c.2481G>T (p.Gln827His) | |
18 | g.23539371C>G | CA401792399 | NPC1 | c.2895G>C (p.Gln965His) c.1973G>C n.528G>C c.2946G>C (p.Gln982His) c.2481G>C (p.Gln827His) | COSMIC |
18 | g.23539371C>T | CA503322539 | NPC1 | c.2895G>A (p.Gln965=) c.1973G>A n.528G>A c.2946G>A (p.Gln982=) c.2481G>A (p.Gln827=) | |
18 | g.23539372T>A | CA401792400 | NPC1 | c.2894A>T (p.Gln965Leu) c.1972A>T n.527A>T c.2945A>T (p.Gln982Leu) c.2480A>T (p.Gln827Leu) | |
18 | g.23539372T>C | CA401792401 | NPC1 | c.2894A>G (p.Gln965Arg) c.1972A>G n.527A>G c.2945A>G (p.Gln982Arg) c.2480A>G (p.Gln827Arg) | gnomAD v4 |
18 | g.23539372T>G | CA401792402 | NPC1 | c.2894A>C (p.Gln965Pro) c.1972A>C n.527A>C c.2945A>C (p.Gln982Pro) c.2480A>C (p.Gln827Pro) | |
18 | g.23539373G>A | CA274181 | NPC1 | c.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 |
18 | g.23539373G>C | CA401792403 | NPC1 | c.2893C>G (p.Gln965Glu) c.1971C>G n.526C>G c.2944C>G (p.Gln982Glu) c.2479C>G (p.Gln827Glu) | gnomAD v4 |
18 | g.23539373G= | CA2290165725 | NPC1 | c.2893C= (p.Gln965=) c.1971C= n.526C= c.2944C= (p.Gln982=) c.2479C= (p.Gln827=) | |
18 | g.23539373G>T | CA401792404 | NPC1 | c.2893C>A (p.Gln965Lys) c.1971C>A n.526C>A c.2944C>A (p.Gln982Lys) c.2479C>A (p.Gln827Lys) | |
18 | g.23539374G>A | CA503322540 | NPC1 | c.2892C>T (p.Asp964=) c.1970C>T n.525C>T c.2943C>T (p.Asp981=) c.2478C>T (p.Asp826=) | ClinVar dbSNP |
18 | g.23539374G>C | CA401792405 | NPC1 | c.2892C>G (p.Asp964Glu) c.1970C>G n.525C>G c.2943C>G (p.Asp981Glu) c.2478C>G (p.Asp826Glu) | |
18 | g.23539374G>T | CA401792406 | NPC1 | c.2892C>A (p.Asp964Glu) c.1970C>A n.525C>A c.2943C>A (p.Asp981Glu) c.2478C>A (p.Asp826Glu) | gnomAD v4 |
18 | g.23539375T>A | CA401792407 | NPC1 | c.2891A>T (p.Asp964Val) c.1969A>T n.524A>T c.2942A>T (p.Asp981Val) c.2477A>T (p.Asp826Val) | |
18 | g.23539375T>C | CA401792408 | NPC1 | c.2891A>G (p.Asp964Gly) c.1969A>G n.524A>G c.2942A>G (p.Asp981Gly) c.2477A>G (p.Asp826Gly) | |
18 | g.23539375T>G | CA401792409 | NPC1 | c.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 |
18 | g.23539375T= | CA2290165726 | NPC1 | c.2891A= (p.Asp964=) c.1969A= n.524A= c.2942A= (p.Asp981=) c.2477A= (p.Asp826=) | |
18 | g.23539376C>A | CA401792412 | NPC1 | c.2890G>T (p.Asp964Tyr) c.1968G>T n.523G>T c.2941G>T (p.Asp981Tyr) c.2476G>T (p.Asp826Tyr) | gnomAD v4 |
18 | g.23539376C>G | CA401792411 | NPC1 | c.2890G>C (p.Asp964His) c.1968G>C n.523G>C c.2941G>C (p.Asp981His) c.2476G>C (p.Asp826His) | |
18 | g.23539376C>T | CA401792410 | NPC1 | c.2890G>A (p.Asp964Asn) c.1968G>A n.523G>A c.2941G>A (p.Asp981Asn) c.2476G>A (p.Asp826Asn) | |
18 | g.23539377A>C | CA503322541 | NPC1 | c.2889T>G (p.Thr963=) c.1967T>G n.522T>G c.2940T>G (p.Thr980=) c.2475T>G (p.Thr825=) | |
18 | g.23539377A>G | CA503322542 | NPC1 | c.2889T>C (p.Thr963=) c.1967T>C n.522T>C c.2940T>C (p.Thr980=) c.2475T>C (p.Thr825=) | |
18 | g.23539377A>T | CA503322543 | NPC1 | c.2889T>A (p.Thr963=) c.1967T>A n.522T>A c.2940T>A (p.Thr980=) c.2475T>A (p.Thr825=) | |
18 | g.23539378G>A | CA401792413 | NPC1 | c.2888C>T (p.Thr963Ile) c.1966C>T n.521C>T c.2939C>T (p.Thr980Ile) c.2474C>T (p.Thr825Ile) | |
18 | g.23539378G>C | CA401792415 | NPC1 | c.2888C>G (p.Thr963Ser) c.1966C>G n.521C>G c.2939C>G (p.Thr980Ser) c.2474C>G (p.Thr825Ser) | |
18 | g.23539378G>T | CA401792414 | NPC1 | c.2888C>A (p.Thr963Asn) c.1966C>A n.521C>A c.2939C>A (p.Thr980Asn) c.2474C>A (p.Thr825Asn) | gnomAD v4 |
18 | g.23539379T>A | CA401792416 | NPC1 | c.2887A>T (p.Thr963Ser) c.1965A>T n.520A>T c.2938A>T (p.Thr980Ser) c.2473A>T (p.Thr825Ser) | |
18 | g.23539379T>C | CA401792417 | NPC1 | c.2887A>G (p.Thr963Ala) c.1965A>G n.520A>G c.2938A>G (p.Thr980Ala) c.2473A>G (p.Thr825Ala) | |
18 | g.23539379T>G | CA401792418 | NPC1 | c.2887A>C (p.Thr963Pro) c.1965A>C n.520A>C c.2938A>C (p.Thr980Pro) c.2473A>C (p.Thr825Pro) | |
18 | g.23539380_23539382del | CA2641273009 | NPC1 | c.2885_2887del (p.Ile962del) c.1963_1965del n.518_520del c.2936_2938del (p.Ile979del) c.2471_2473del (p.Ile824del) | gnomAD v4 |
18 | g.23539380G>A | CA503322544 | NPC1 | c.2886C>T (p.Ile962=) c.1964C>T n.519C>T c.2937C>T (p.Ile979=) c.2472C>T (p.Ile824=) | |
18 | g.23539380G>C | CA401792419 | NPC1 | c.2886C>G (p.Ile962Met) c.1964C>G n.519C>G c.2937C>G (p.Ile979Met) c.2472C>G (p.Ile824Met) | gnomAD v4 |
18 | g.23539380G>T | CA503322545 | NPC1 | c.2886C>A (p.Ile962=) c.1964C>A n.519C>A c.2937C>A (p.Ile979=) c.2472C>A (p.Ile824=) | |
18 | g.23539381A>C | CA401792420 | NPC1 | c.2885T>G (p.Ile962Ser) c.1963T>G n.518T>G c.2936T>G (p.Ile979Ser) c.2471T>G (p.Ile824Ser) | |
18 | g.23539381A>G | CA401792421 | NPC1 | c.2885T>C (p.Ile962Thr) c.1963T>C n.518T>C c.2936T>C (p.Ile979Thr) c.2471T>C (p.Ile824Thr) | |
18 | g.23539381A>T | CA401792422 | NPC1 | c.2885T>A (p.Ile962Asn) c.1963T>A n.518T>A c.2936T>A (p.Ile979Asn) c.2471T>A (p.Ile824Asn) | |
18 | g.23539382T>A | CA401792423 | NPC1 | c.2884A>T (p.Ile962Phe) c.1962A>T n.517A>T c.2935A>T (p.Ile979Phe) c.2470A>T (p.Ile824Phe) | COSMIC |
18 | g.23539382T>C | CA401792424 | NPC1 | c.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 |
18 | g.23539382T>G | CA401792425 | NPC1 | c.2884A>C (p.Ile962Leu) c.1962A>C n.517A>C c.2935A>C (p.Ile979Leu) c.2470A>C (p.Ile824Leu) | |
18 | g.23539382T= | CA2290165727 | NPC1 | c.2884A= (p.Ile962=) c.1962A= n.517A= c.2935A= (p.Ile979=) c.2470A= (p.Ile824=) | |
18 | g.23539383A>C | CA401792426 | NPC1 | c.2883T>G (p.Asn961Lys) c.1961T>G n.516T>G c.2934T>G (p.Asn978Lys) c.2469T>G (p.Asn823Lys) | |
18 | g.23539383A>G | CA503322546 | NPC1 | c.2883T>C (p.Asn961=) c.1961T>C n.516T>C c.2934T>C (p.Asn978=) c.2469T>C (p.Asn823=) | gnomAD v4 |
18 | g.23539383A>T | CA401792427 | NPC1 | c.2883T>A (p.Asn961Lys) c.1961T>A n.516T>A c.2934T>A (p.Asn978Lys) c.2469T>A (p.Asn823Lys) | |
18 | g.23539384T>A | CA401792429 | NPC1 | c.2882A>T (p.Asn961Ile) c.1960A>T n.515A>T c.2933A>T (p.Asn978Ile) c.2468A>T (p.Asn823Ile) | |
18 | g.23539384T>C | CA8912938 | NPC1 | c.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 |
18 | g.23539384T>G | CA401792428 | NPC1 | c.2882A>C (p.Asn961Thr) c.1960A>C n.515A>C c.2933A>C (p.Asn978Thr) c.2468A>C (p.Asn823Thr) | |
18 | g.23539384T= | CA2290165728 | NPC1 | c.2882A= (p.Asn961=) c.1960A= n.515A= c.2933A= (p.Asn978=) c.2468A= (p.Asn823=) | |
18 | g.23539385T>A | CA401792430 | NPC1 | c.2881A>T (p.Asn961Tyr) c.1959A>T n.514A>T c.2932A>T (p.Asn978Tyr) c.2467A>T (p.Asn823Tyr) | |
18 | g.23539385T>C | CA8912939 | NPC1 | c.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 |
18 | g.23539385T>G | CA401792431 | NPC1 | c.2881A>C (p.Asn961His) c.1959A>C n.514A>C c.2932A>C (p.Asn978His) c.2467A>C (p.Asn823His) | |
18 | g.23539385T= | CA2290165729 | NPC1 | c.2881A= (p.Asn961=) c.1959A= n.514A= c.2932A= (p.Asn978=) c.2467A= (p.Asn823=) | |
18 | g.23539386G>A | CA503322547 | NPC1 | c.2880C>T (p.Asp960=) c.1958C>T n.513C>T c.2931C>T (p.Asp977=) c.2466C>T (p.Asp822=) | |
18 | g.23539386G>C | CA401792432 | NPC1 | c.2880C>G (p.Asp960Glu) c.1958C>G n.513C>G c.2931C>G (p.Asp977Glu) c.2466C>G (p.Asp822Glu) | |
18 | g.23539386G>T | CA401792433 | NPC1 | c.2880C>A (p.Asp960Glu) c.1958C>A n.513C>A c.2931C>A (p.Asp977Glu) c.2466C>A (p.Asp822Glu) | |
18 | g.23539387T>A | CA401792434 | NPC1 | c.2879A>T (p.Asp960Val) c.1957A>T n.512A>T c.2930A>T (p.Asp977Val) c.2465A>T (p.Asp822Val) | |
18 | g.23539387T>C | CA401792435 | NPC1 | c.2879A>G (p.Asp960Gly) c.1957A>G n.512A>G c.2930A>G (p.Asp977Gly) c.2465A>G (p.Asp822Gly) | |
18 | g.23539387T>G | CA401792436 | NPC1 | c.2879A>C (p.Asp960Ala) c.1957A>C n.512A>C c.2930A>C (p.Asp977Ala) c.2465A>C (p.Asp822Ala) | |
18 | g.23539388C>A | CA401792437 | NPC1 | c.2878G>T (p.Asp960Tyr) c.1956G>T n.511G>T c.2929G>T (p.Asp977Tyr) c.2464G>T (p.Asp822Tyr) | |
18 | g.23539388C>G | CA401792438 | NPC1 | c.2878G>C (p.Asp960His) c.1956G>C n.511G>C c.2929G>C (p.Asp977His) c.2464G>C (p.Asp822His) | |
18 | g.23539388C>T | CA401792439 | NPC1 | c.2878G>A (p.Asp960Asn) c.1956G>A n.511G>A c.2929G>A (p.Asp977Asn) c.2464G>A (p.Asp822Asn) | |
18 | g.23539389dup | CA2580095515 | NPC1 | c.2878dup (p.Asp960GlyfsTer5) c.1956dup n.511dup c.2929dup (p.Asp977GlyfsTer5) c.2464dup (p.Asp822GlyfsTer5) | ClinVar |
18 | g.23539389C>A | CA503322548 | NPC1 | c.2877G>T (p.Val959=) c.1955G>T n.510G>T c.2928G>T (p.Val976=) c.2463G>T (p.Val821=) | |
18 | g.23539389C>G | CA503322549 | NPC1 | c.2877G>C (p.Val959=) c.1955G>C n.510G>C c.2928G>C (p.Val976=) c.2463G>C (p.Val821=) | |
18 | g.23539389C>T | CA503322550 | NPC1 | c.2877G>A (p.Val959=) c.1955G>A n.510G>A c.2928G>A (p.Val976=) c.2463G>A (p.Val821=) | |
18 | g.23539390A>C | CA401792442 | NPC1 | c.2876T>G (p.Val959Gly) c.1954T>G n.509T>G c.2927T>G (p.Val976Gly) c.2462T>G (p.Val821Gly) | |
18 | g.23539390A>G | CA401792441 | NPC1 | c.2876T>C (p.Val959Ala) c.1954T>C n.509T>C c.2927T>C (p.Val976Ala) c.2462T>C (p.Val821Ala) | |
18 | g.23539390A>T | CA401792440 | NPC1 | c.2876T>A (p.Val959Glu) c.1954T>A n.509T>A c.2927T>A (p.Val976Glu) c.2462T>A (p.Val821Glu) | |
18 | g.23539391C>A | CA401792443 | NPC1 | c.2875G>T (p.Val959Leu) c.1953G>T n.508G>T c.2926G>T (p.Val976Leu) c.2461G>T (p.Val821Leu) | |
18 | g.23539391C>G | CA401792444 | NPC1 | c.2875G>C (p.Val959Leu) c.1953G>C n.508G>C c.2926G>C (p.Val976Leu) c.2461G>C (p.Val821Leu) | |
18 | g.23539391C>T | CA401792445 | NPC1 | c.2875G>A (p.Val959Met) c.1953G>A n.508G>A c.2926G>A (p.Val976Met) c.2461G>A (p.Val821Met) | |
18 | g.23539392T>A | CA503322551 | NPC1 | c.2874A>T (p.Arg958=) c.1952A>T n.507A>T c.2925A>T (p.Arg975=) c.2460A>T (p.Arg820=) | ClinVar dbSNP |
18 | g.23539392T>C | CA503322552 | NPC1 | c.2874A>G (p.Arg958=) c.1952A>G n.507A>G c.2925A>G (p.Arg975=) c.2460A>G (p.Arg820=) | |
18 | g.23539392T>G | CA503322553 | NPC1 | c.2874A>C (p.Arg958=) c.1952A>C n.507A>C c.2925A>C (p.Arg975=) c.2460A>C (p.Arg820=) | |
18 | g.23539393C>A | CA401792446 | NPC1 | c.2873G>T (p.Arg958Leu) c.1951G>T n.506G>T c.2924G>T (p.Arg975Leu) c.2459G>T (p.Arg820Leu) | dbSNP |
18 | g.23539393C= | CA2290165730 | NPC1 | c.2873G= (p.Arg958=) c.1951G= n.506G= c.2924G= (p.Arg975=) c.2459G= (p.Arg820=) | |
18 | g.23539393C>G | CA401792447 | NPC1 | c.2873G>C (p.Arg958Pro) c.1951G>C n.506G>C c.2924G>C (p.Arg975Pro) c.2459G>C (p.Arg820Pro) | |
18 | g.23539393C>T | CA252498 | NPC1 | c.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 |
18 | g.23539394G>A | CA8912940 | NPC1 | c.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 |
18 | g.23539394G>C | CA401792448 | NPC1 | c.2872C>G (p.Arg958Gly) c.1950C>G n.505C>G c.2923C>G (p.Arg975Gly) c.2458C>G (p.Arg820Gly) | |
18 | g.23539394G= | CA2290165731 | NPC1 | c.2872C= (p.Arg958=) c.1950C= n.505C= c.2923C= (p.Arg975=) c.2458C= (p.Arg820=) | |
18 | g.23539394G>T | CA503322554 | NPC1 | c.2872C>A (p.Arg958=) c.1950C>A n.505C>A c.2923C>A (p.Arg975=) c.2458C>A (p.Arg820=) | |
18 | g.23539395A>C | CA401792449 | NPC1 | c.2871T>G (p.Cys957Trp) c.1949T>G n.504T>G c.2922T>G (p.Cys974Trp) c.2457T>G (p.Cys819Trp) | |
18 | g.23539395A>G | CA503322555 | NPC1 | c.2871T>C (p.Cys957=) c.1949T>C n.504T>C c.2922T>C (p.Cys974=) c.2457T>C (p.Cys819=) | |
18 | g.23539395A>T | CA401792450 | NPC1 | c.2871T>A (p.Cys957Ter) c.1949T>A n.504T>A c.2922T>A (p.Cys974Ter) c.2457T>A (p.Cys819Ter) | ClinVar |
18 | g.23539396C>A | CA401792451 | NPC1 | c.2870G>T (p.Cys957Phe) c.1948G>T n.503G>T c.2921G>T (p.Cys974Phe) c.2456G>T (p.Cys819Phe) | |
18 | g.23539396C>G | CA401792452 | NPC1 | c.2870G>C (p.Cys957Ser) c.1948G>C n.503G>C c.2921G>C (p.Cys974Ser) c.2456G>C (p.Cys819Ser) | |
18 | g.23539396C>T | CA401792453 | NPC1 | c.2870G>A (p.Cys957Tyr) c.1948G>A n.503G>A c.2921G>A (p.Cys974Tyr) c.2456G>A (p.Cys819Tyr) | |
18 | g.23539397A>C | CA401792456 | NPC1 | c.2869T>G (p.Cys957Gly) c.1947T>G n.502T>G c.2920T>G (p.Cys974Gly) c.2455T>G (p.Cys819Gly) | |
18 | g.23539397A>G | CA401792454 | NPC1 | c.2869T>C (p.Cys957Arg) c.1947T>C n.502T>C c.2920T>C (p.Cys974Arg) c.2455T>C (p.Cys819Arg) | gnomAD v4 |
18 | g.23539397A>T | CA401792455 | NPC1 | c.2869T>A (p.Cys957Ser) c.1947T>A n.502T>A c.2920T>A (p.Cys974Ser) c.2455T>A (p.Cys819Ser) | |
18 | g.23539398G>A | CA503322556 | NPC1 | c.2868C>T (p.Cys956=) c.1946C>T n.501C>T c.2919C>T (p.Cys973=) c.2454C>T (p.Cys818=) | gnomAD v4 |
18 | g.23539398G>C | CA401792457 | NPC1 | c.2868C>G (p.Cys956Trp) c.1946C>G n.501C>G c.2919C>G (p.Cys973Trp) c.2454C>G (p.Cys818Trp) | |
18 | g.23539398G>T | CA401792458 | NPC1 | c.2868C>A (p.Cys956Ter) c.1946C>A n.501C>A c.2919C>A (p.Cys973Ter) c.2454C>A (p.Cys818Ter) | |
18 | g.23539399C>A | CA401792459 | NPC1 | c.2867G>T (p.Cys956Phe) c.1945G>T n.500G>T c.2918G>T (p.Cys973Phe) c.2453G>T (p.Cys818Phe) | |
18 | g.23539399C= | CA2290165732 | NPC1 | c.2867G= (p.Cys956=) c.1945G= n.500G= c.2918G= (p.Cys973=) c.2453G= (p.Cys818=) | |
18 | g.23539399C>G | CA401792460 | NPC1 | c.2867G>C (p.Cys956Ser) c.1945G>C n.500G>C c.2918G>C (p.Cys973Ser) c.2453G>C (p.Cys818Ser) | |
18 | g.23539399C>T | CA401792461 | NPC1 | c.2867G>A (p.Cys956Tyr) c.1945G>A n.500G>A c.2918G>A (p.Cys973Tyr) c.2453G>A (p.Cys818Tyr) | dbSNP |
18 | g.23539400A>C | CA401792462 | NPC1 | c.2866T>G (p.Cys956Gly) c.1944T>G n.499T>G c.2917T>G (p.Cys973Gly) c.2452T>G (p.Cys818Gly) | |
18 | g.23539400A>G | CA401792463 | NPC1 | c.2866T>C (p.Cys956Arg) c.1944T>C n.499T>C c.2917T>C (p.Cys973Arg) c.2452T>C (p.Cys818Arg) | |
18 | g.23539400A>T | CA401792464 | NPC1 | c.2866T>A (p.Cys956Ser) c.1944T>A n.499T>A c.2917T>A (p.Cys973Ser) c.2452T>A (p.Cys818Ser) | |
18 | g.23539401A= | CA2290165733 | NPC1 | c.2865T= (p.Ser955=) c.1943T= n.498T= c.2916T= (p.Ser972=) c.2451T= (p.Ser817=) | |
18 | g.23539401A>C | CA503322558 | NPC1 | c.2865T>G (p.Ser955=) c.1943T>G n.498T>G c.2916T>G (p.Ser972=) c.2451T>G (p.Ser817=) | |
18 | g.23539401A>G | CA297081160 | NPC1 | c.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 |
18 | g.23539401A>T | CA503322557 | NPC1 | c.2865T>A (p.Ser955=) c.1943T>A n.498T>A c.2916T>A (p.Ser972=) c.2451T>A (p.Ser817=) | |
18 | g.23539401_23539404delinsAGAC | CA2290165734 | NPC1 | c.2862_2865delinsGTCT (p.Ser954=) c.1940_1943delinsGTCT n.495_498delinsGTCT c.2913_2916delinsGTCT (p.Ser971=) c.2448_2451delinsGTCT (p.Ser816=) | |
18 | g.23539402G>A | CA297081164 | NPC1 | c.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 |
18 | g.23539402G>C | CA401792465 | NPC1 | c.2864C>G (p.Ser955Cys) c.1942C>G n.497C>G c.2915C>G (p.Ser972Cys) c.2450C>G (p.Ser817Cys) | |
18 | g.23539402G= | CA2290165735 | NPC1 | c.2864C= (p.Ser955=) c.1942C= n.497C= c.2915C= (p.Ser972=) c.2450C= (p.Ser817=) | |
18 | g.23539402G>T | CA401792466 | NPC1 | c.2864C>A (p.Ser955Tyr) c.1942C>A n.497C>A c.2915C>A (p.Ser972Tyr) c.2450C>A (p.Ser817Tyr) | |
18 | g.23539405_23539407del | CA628677872 | NPC1 | c.2862_2864del (p.Ser955del) c.1940_1942del n.495_497del c.2913_2915del (p.Ser972del) c.2448_2450del (p.Ser817del) | dbSNP gnomAD v2 |
18 | g.23539403A>C | CA401792469 | NPC1 | c.2863T>G (p.Ser955Ala) c.1941T>G n.496T>G c.2914T>G (p.Ser972Ala) c.2449T>G (p.Ser817Ala) | |
18 | g.23539403A>G | CA401792468 | NPC1 | c.2863T>C (p.Ser955Pro) c.1941T>C n.496T>C c.2914T>C (p.Ser972Pro) c.2449T>C (p.Ser817Pro) | |
18 | g.23539403A>T | CA401792467 | NPC1 | c.2863T>A (p.Ser955Thr) c.1941T>A n.496T>A c.2914T>A (p.Ser972Thr) c.2449T>A (p.Ser817Thr) | |
18 | g.23539404C>A | CA503322559 | NPC1 | c.2862G>T (p.Ser954=) c.1940G>T n.495G>T c.2913G>T (p.Ser971=) c.2448G>T (p.Ser816=) | |
18 | g.23539404C= | CA2290165736 | NPC1 | c.2862G= (p.Ser954=) c.1940G= n.495G= c.2913G= (p.Ser971=) c.2448G= (p.Ser816=) | |
18 | g.23539404C>G | CA503322560 | NPC1 | c.2862G>C (p.Ser954=) c.1940G>C n.495G>C c.2913G>C (p.Ser971=) c.2448G>C (p.Ser816=) | |
18 | g.23539404C>T | CA220561 | NPC1 | c.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 |
18 | g.23539405G>A | CA297014 | NPC1 | c.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 |
18 | g.23539405G>C | CA401792470 | NPC1 | c.2861C>G (p.Ser954Trp) c.1939C>G n.494C>G c.2912C>G (p.Ser971Trp) c.2447C>G (p.Ser816Trp) | |
18 | g.23539405G= | CA2290165737 | NPC1 | c.2861C= (p.Ser954=) c.1939C= n.494C= c.2912C= (p.Ser971=) c.2447C= (p.Ser816=) | |
18 | g.23539405G>T | CA401792471 | NPC1 | c.2861C>A (p.Ser954Ter) c.1939C>A n.494C>A c.2912C>A (p.Ser971Ter) c.2447C>A (p.Ser816Ter) | gnomAD v4 |
18 | g.23539406A>C | CA401792472 | NPC1 | c.2860T>G (p.Ser954Ala) c.1938T>G n.493T>G c.2911T>G (p.Ser971Ala) c.2446T>G (p.Ser816Ala) | |
18 | g.23539406A>G | CA401792474 | NPC1 | c.2860T>C (p.Ser954Pro) c.1938T>C n.493T>C c.2911T>C (p.Ser971Pro) c.2446T>C (p.Ser816Pro) | |
18 | g.23539406A>T | CA401792473 | NPC1 | c.2860T>A (p.Ser954Thr) c.1938T>A n.493T>A c.2911T>A (p.Ser971Thr) c.2446T>A (p.Ser816Thr) | |
18 | g.23539407C>A | CA401792475 | NPC1 | c.2859G>T (p.Gln953His) c.1937G>T n.492G>T c.2910G>T (p.Gln970His) c.2445G>T (p.Gln815His) | |
18 | g.23539407C= | CA2290165738 | NPC1 | c.2859G= (p.Gln953=) c.1937G= n.492G= c.2910G= (p.Gln970=) c.2445G= (p.Gln815=) | |
18 | g.23539407C>G | CA401792476 | NPC1 | c.2859G>C (p.Gln953His) c.1937G>C n.492G>C c.2910G>C (p.Gln970His) c.2445G>C (p.Gln815His) | |
18 | g.23539407C>T | CA503322561 | NPC1 | c.2859G>A (p.Gln953=) c.1937G>A n.492G>A c.2910G>A (p.Gln970=) c.2445G>A (p.Gln815=) | dbSNP gnomAD v2 |
18 | g.23539408T>A | CA8912941 | NPC1 | c.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 |
18 | g.23539408T>C | CA401792477 | NPC1 | c.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 |
18 | g.23539408T>G | CA401792478 | NPC1 | c.2858A>C (p.Gln953Pro) c.1936A>C n.491A>C c.2909A>C (p.Gln970Pro) c.2444A>C (p.Gln815Pro) | |
18 | g.23539408T= | CA2290165739 | NPC1 | c.2858A= (p.Gln953=) c.1936A= n.491A= c.2909A= (p.Gln970=) c.2444A= (p.Gln815=) | |
18 | g.23539410_23539411del | CA2580613286 | NPC1 | c.2857_2858del (p.Gln953ValfsTer11) c.1935_1936del n.490_491del c.2908_2909del (p.Gln970ValfsTer11) c.2443_2444del (p.Gln815ValfsTer11) | ClinVar dbSNP |
18 | g.23539409G>A | CA401792479 | NPC1 | c.2857C>T (p.Gln953Ter) c.1935C>T n.490C>T c.2908C>T (p.Gln970Ter) c.2443C>T (p.Gln815Ter) | |
18 | g.23539409G>C | CA401792480 | NPC1 | c.2857C>G (p.Gln953Glu) c.1935C>G n.490C>G c.2908C>G (p.Gln970Glu) c.2443C>G (p.Gln815Glu) | |
18 | g.23539409G>T | CA401792481 | NPC1 | c.2857C>A (p.Gln953Lys) c.1935C>A n.490C>A c.2908C>A (p.Gln970Lys) c.2443C>A (p.Gln815Lys) | |
18 | g.23539410T>A | CA503322562 | NPC1 | c.2856A>T (p.Pro952=) c.1934A>T n.489A>T c.2907A>T (p.Pro969=) c.2442A>T (p.Pro814=) | |
18 | g.23539410T>C | CA503322563 | NPC1 | c.2856A>G (p.Pro952=) c.1934A>G n.489A>G c.2907A>G (p.Pro969=) c.2442A>G (p.Pro814=) | |
18 | g.23539410T>G | CA503322564 | NPC1 | c.2856A>C (p.Pro952=) c.1934A>C n.489A>C c.2907A>C (p.Pro969=) c.2442A>C (p.Pro814=) | |
18 | g.23539411G>A | CA401792482 | NPC1 | c.2855C>T (p.Pro952Leu) c.1933C>T n.488C>T c.2906C>T (p.Pro969Leu) c.2441C>T (p.Pro814Leu) | |
18 | g.23539411G>C | CA401792483 | NPC1 | c.2855C>G (p.Pro952Arg) c.1933C>G n.488C>G c.2906C>G (p.Pro969Arg) c.2441C>G (p.Pro814Arg) | gnomAD v4 |
18 | g.23539411G>T | CA401792484 | NPC1 | c.2855C>A (p.Pro952Gln) c.1933C>A n.488C>A c.2906C>A (p.Pro969Gln) c.2441C>A (p.Pro814Gln) | |
18 | g.23539412G>A | CA401792485 | NPC1 | c.2854C>T (p.Pro952Ser) c.1932C>T n.487C>T c.2905C>T (p.Pro969Ser) c.2440C>T (p.Pro814Ser) | |
18 | g.23539412G>C | CA401792486 | NPC1 | c.2854C>G (p.Pro952Ala) c.1932C>G n.487C>G c.2905C>G (p.Pro969Ala) c.2440C>G (p.Pro814Ala) | |
18 | g.23539412G>T | CA401792487 | NPC1 | c.2854C>A (p.Pro952Thr) c.1932C>A n.487C>A c.2905C>A (p.Pro969Thr) c.2440C>A (p.Pro814Thr) | |
18 | g.23539413C>A | CA401792489 | NPC1 | c.2853G>T (p.Lys951Asn) c.1931G>T n.486G>T c.2904G>T (p.Lys968Asn) c.2439G>T (p.Lys813Asn) | |
18 | g.23539413C>G | CA401792488 | NPC1 | c.2853G>C (p.Lys951Asn) c.1931G>C n.486G>C c.2904G>C (p.Lys968Asn) c.2439G>C (p.Lys813Asn) | |
18 | g.23539413C>T | CA503322565 | NPC1 | c.2853G>A (p.Lys951=) c.1931G>A n.486G>A c.2904G>A (p.Lys968=) c.2439G>A (p.Lys813=) | COSMIC |
18 | g.23539414T>A | CA401792490 | NPC1 | c.2852A>T (p.Lys951Met) c.1930A>T n.485A>T c.2903A>T (p.Lys968Met) c.2438A>T (p.Lys813Met) | |
18 | g.23539414T>C | CA401792491 | NPC1 | c.2852A>G (p.Lys951Arg) c.1930A>G n.485A>G c.2903A>G (p.Lys968Arg) c.2438A>G (p.Lys813Arg) | |
18 | g.23539414T>G | CA401792492 | NPC1 | c.2852A>C (p.Lys951Thr) c.1930A>C n.485A>C c.2903A>C (p.Lys968Thr) c.2438A>C (p.Lys813Thr) | |
18 | g.23539415T>A | CA401792493 | NPC1 | c.2851A>T (p.Lys951Ter) c.1929A>T n.484A>T c.2902A>T (p.Lys968Ter) c.2437A>T (p.Lys813Ter) | |
18 | g.23539415T>C | CA8912942 | NPC1 | c.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 |
18 | g.23539415T>G | CA401792494 | NPC1 | c.2851A>C (p.Lys951Gln) c.1929A>C n.484A>C c.2902A>C (p.Lys968Gln) c.2437A>C (p.Lys813Gln) | ClinVar dbSNP |
18 | g.23539415T= | CA2290165740 | NPC1 | c.2851A= (p.Lys951=) c.1929A= n.484A= c.2902A= (p.Lys968=) c.2437A= (p.Lys813=) | |
18 | g.23539416C>A | CA503322566 | NPC1 | c.2850G>T (p.Val950=) c.1928G>T n.483G>T c.2901G>T (p.Val967=) c.2436G>T (p.Val812=) | |
18 | g.23539416C= | CA2290165741 | NPC1 | c.2850G= (p.Val950=) c.1928G= n.483G= c.2901G= (p.Val967=) c.2436G= (p.Val812=) | |
18 | g.23539416C>G | CA503322567 | NPC1 | c.2850G>C (p.Val950=) c.1928G>C n.483G>C c.2901G>C (p.Val967=) c.2436G>C (p.Val812=) | |
18 | g.23539416C>T | CA8912943 | NPC1 | c.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 |
18 | g.23539417A= | CA2290165742 | NPC1 | c.2849T= (p.Val950=) c.1927T= n.482T= c.2900T= (p.Val967=) c.2435T= (p.Val812=) | |
18 | g.23539417A>C | CA16043142 | NPC1 | c.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 |
18 | g.23539417A>G | CA401792495 | NPC1 | c.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 |
18 | g.23539417A>T | CA401792496 | NPC1 | c.2849T>A (p.Val950Glu) c.1927T>A n.482T>A c.2900T>A (p.Val967Glu) c.2435T>A (p.Val812Glu) | |
18 | g.23539418C>A | CA401792497 | NPC1 | c.2848G>T (p.Val950Leu) c.1926G>T n.481G>T c.2899G>T (p.Val967Leu) c.2434G>T (p.Val812Leu) | |
18 | g.23539418C= | CA2290165743 | NPC1 | c.2848G= (p.Val950=) c.1926G= n.481G= c.2899G= (p.Val967=) c.2434G= (p.Val812=) | |
18 | g.23539418C>G | CA401792498 | NPC1 | c.2848G>C (p.Val950Leu) c.1926G>C n.481G>C c.2899G>C (p.Val967Leu) c.2434G>C (p.Val812Leu) | |
18 | g.23539418C>T | CA281534 | NPC1 | c.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 |
18 | g.23539419C>A | CA401792499 | NPC1 | c.2847G>T (p.Trp949Cys) c.1925G>T n.480G>T c.2898G>T (p.Trp966Cys) c.2433G>T (p.Trp811Cys) | |
18 | g.23539419C>G | CA401792501 | NPC1 | c.2847G>C (p.Trp949Cys) c.1925G>C n.480G>C c.2898G>C (p.Trp966Cys) c.2433G>C (p.Trp811Cys) | |
18 | g.23539419C>T | CA401792500 | NPC1 | c.2847G>A (p.Trp949Ter) c.1925G>A n.480G>A c.2898G>A (p.Trp966Ter) c.2433G>A (p.Trp811Ter) | ClinVar dbSNP |
18 | g.23539420C>A | CA401792502 | NPC1 | c.2846G>T (p.Trp949Leu) c.1924G>T n.479G>T c.2897G>T (p.Trp966Leu) c.2432G>T (p.Trp811Leu) | |
18 | g.23539420C>G | CA401792503 | NPC1 | c.2846G>C (p.Trp949Ser) c.1924G>C n.479G>C c.2897G>C (p.Trp966Ser) c.2432G>C (p.Trp811Ser) | |
18 | g.23539420C>T | CA401792504 | NPC1 | c.2846G>A (p.Trp949Ter) c.1924G>A n.479G>A c.2897G>A (p.Trp966Ter) c.2432G>A (p.Trp811Ter) | |
18 | g.23539421A>C | CA401792505 | NPC1 | c.2845T>G (p.Trp949Gly) c.1923T>G n.478T>G c.2896T>G (p.Trp966Gly) c.2431T>G (p.Trp811Gly) | |
18 | g.23539421A>G | CA401792506 | NPC1 | c.2845T>C (p.Trp949Arg) c.1923T>C n.478T>C c.2896T>C (p.Trp966Arg) c.2431T>C (p.Trp811Arg) | |
18 | g.23539421A>T | CA401792507 | NPC1 | c.2845T>A (p.Trp949Arg) c.1923T>A n.478T>A c.2896T>A (p.Trp966Arg) c.2431T>A (p.Trp811Arg) | |
18 | g.23539422G>A | CA503322568 | NPC1 | c.2844C>T (p.Asp948=) c.1922C>T n.477C>T c.2895C>T (p.Asp965=) c.2430C>T (p.Asp810=) | ClinVar |
18 | g.23539422G>C | CA401792508 | NPC1 | c.2844C>G (p.Asp948Glu) c.1922C>G n.477C>G c.2895C>G (p.Asp965Glu) c.2430C>G (p.Asp810Glu) | ClinVar |
18 | g.23539422G>T | CA401792509 | NPC1 | c.2844C>A (p.Asp948Glu) c.1922C>A n.477C>A c.2895C>A (p.Asp965Glu) c.2430C>A (p.Asp810Glu) | |
18 | g.23539423T>A | CA401792510 | NPC1 | c.2843A>T (p.Asp948Val) c.1921A>T n.476A>T c.2894A>T (p.Asp965Val) c.2429A>T (p.Asp810Val) | |
18 | g.23539423T>C | CA401792511 | NPC1 | c.2843A>G (p.Asp948Gly) c.1921A>G n.476A>G c.2894A>G (p.Asp965Gly) c.2429A>G (p.Asp810Gly) | |
18 | g.23539423T>G | CA401792512 | NPC1 | c.2843A>C (p.Asp948Ala) c.1921A>C n.476A>C c.2894A>C (p.Asp965Ala) c.2429A>C (p.Asp810Ala) | |
18 | g.23539424C>A | CA401792515 | NPC1 | c.2842G>T (p.Asp948Tyr) c.1920G>T n.475G>T c.2893G>T (p.Asp965Tyr) c.2428G>T (p.Asp810Tyr) | gnomAD v4 |
18 | g.23539424C= | CA2290165744 | NPC1 | c.2842G= (p.Asp948=) c.1920G= n.475G= c.2893G= (p.Asp965=) c.2428G= (p.Asp810=) | |
18 | g.23539424C>G | CA401792514 | NPC1 | c.2842G>C (p.Asp948His) c.1920G>C n.475G>C c.2893G>C (p.Asp965His) c.2428G>C (p.Asp810His) | gnomAD v4 |
18 | g.23539424C>T | CA401792513 | NPC1 | c.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 |
18 | g.23539425G>A | CA8912944 | NPC1 | c.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 |
18 | g.23539425G>C | CA401792516 | NPC1 | c.2841C>G (p.Phe947Leu) c.1919C>G n.474C>G c.2892C>G (p.Phe964Leu) c.2427C>G (p.Phe809Leu) | gnomAD v4 |
18 | g.23539425G= | CA2290165745 | NPC1 | c.2841C= (p.Phe947=) c.1919C= n.474C= c.2892C= (p.Phe964=) c.2427C= (p.Phe809=) | |
18 | g.23539425G>T | CA401792517 | NPC1 | c.2841C>A (p.Phe947Leu) c.1919C>A n.474C>A c.2892C>A (p.Phe964Leu) c.2427C>A (p.Phe809Leu) | |
18 | g.23539426A= | CA2290165746 | NPC1 | c.2840T= (p.Phe947=) c.1918T= n.473T= c.2891T= (p.Phe964=) c.2426T= (p.Phe809=) | |
18 | g.23539426A>C | CA401792518 | NPC1 | c.2840T>G (p.Phe947Cys) c.1918T>G n.473T>G c.2891T>G (p.Phe964Cys) c.2426T>G (p.Phe809Cys) | |
18 | g.23539426A>G | CA401792519 | NPC1 | c.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 |
18 | g.23539426A>T | CA401792520 | NPC1 | c.2840T>A (p.Phe947Tyr) c.1918T>A n.473T>A c.2891T>A (p.Phe964Tyr) c.2426T>A (p.Phe809Tyr) | |
18 | g.23539427A>C | CA401792521 | NPC1 | c.2839T>G (p.Phe947Val) c.1917T>G n.472T>G c.2890T>G (p.Phe964Val) c.2425T>G (p.Phe809Val) | |
18 | g.23539427A>G | CA401792522 | NPC1 | c.2839T>C (p.Phe947Leu) c.1917T>C n.472T>C c.2890T>C (p.Phe964Leu) c.2425T>C (p.Phe809Leu) | |
18 | g.23539427A>T | CA401792523 | NPC1 | c.2839T>A (p.Phe947Ile) c.1917T>A n.472T>A c.2890T>A (p.Phe964Ile) c.2425T>A (p.Phe809Ile) | |
18 | g.23539428A>C | CA401792524 | NPC1 | c.2838T>G (p.Tyr946Ter) c.1916T>G n.471T>G c.2889T>G (p.Tyr963Ter) c.2424T>G (p.Tyr808Ter) | |
18 | g.23539428A>G | CA503322569 | NPC1 | c.2838T>C (p.Tyr946=) c.1916T>C n.471T>C c.2889T>C (p.Tyr963=) c.2424T>C (p.Tyr808=) | |
18 | g.23539428A>T | CA401792525 | NPC1 | c.2838T>A (p.Tyr946Ter) c.1916T>A n.471T>A c.2889T>A (p.Tyr963Ter) c.2424T>A (p.Tyr808Ter) | |
18 | g.23539429T>A | CA401792528 | NPC1 | c.2837A>T (p.Tyr946Phe) c.1915A>T n.470A>T c.2888A>T (p.Tyr963Phe) c.2423A>T (p.Tyr808Phe) | |
18 | g.23539429T>C | CA401792527 | NPC1 | c.2837A>G (p.Tyr946Cys) c.1915A>G n.470A>G c.2888A>G (p.Tyr963Cys) c.2423A>G (p.Tyr808Cys) | |
18 | g.23539429T>G | CA401792526 | NPC1 | c.2837A>C (p.Tyr946Ser) c.1915A>C n.470A>C c.2888A>C (p.Tyr963Ser) c.2423A>C (p.Tyr808Ser) | |
18 | g.23539430A>C | CA401792529 | NPC1 | c.2836T>G (p.Tyr946Asp) c.1914T>G n.469T>G c.2887T>G (p.Tyr963Asp) c.2422T>G (p.Tyr808Asp) | |
18 | g.23539430A>G | CA401792531 | NPC1 | c.2836T>C (p.Tyr946His) c.1914T>C n.469T>C c.2887T>C (p.Tyr963His) c.2422T>C (p.Tyr808His) | gnomAD v4 |
18 | g.23539430A>T | CA401792530 | NPC1 | c.2836T>A (p.Tyr946Asn) c.1914T>A n.469T>A c.2887T>A (p.Tyr963Asn) c.2422T>A (p.Tyr808Asn) | ClinVar |
18 | g.23539431A>C | CA401792532 | NPC1 | c.2835T>G (p.Asp945Glu) c.1913T>G n.468T>G c.2886T>G (p.Asp962Glu) c.2421T>G (p.Asp807Glu) | |
18 | g.23539431A>G | CA503322570 | NPC1 | c.2835T>C (p.Asp945=) c.1913T>C n.468T>C c.2886T>C (p.Asp962=) c.2421T>C (p.Asp807=) | ClinVar |
18 | g.23539431A>T | CA401792533 | NPC1 | c.2835T>A (p.Asp945Glu) c.1913T>A n.468T>A c.2886T>A (p.Asp962Glu) c.2421T>A (p.Asp807Glu) | |
18 | g.23539432T>A | CA401792534 | NPC1 | c.2834A>T (p.Asp945Val) c.1912A>T n.467A>T c.2885A>T (p.Asp962Val) c.2420A>T (p.Asp807Val) | |
18 | g.23539432T>C | CA401792535 | NPC1 | c.2834A>G (p.Asp945Gly) c.1912A>G n.467A>G c.2885A>G (p.Asp962Gly) c.2420A>G (p.Asp807Gly) | |
18 | g.23539432T>G | CA401792536 | NPC1 | c.2834A>C (p.Asp945Ala) c.1912A>C n.467A>C c.2885A>C (p.Asp962Ala) c.2420A>C (p.Asp807Ala) | |
18 | g.23539433C>A | CA401792537 | NPC1 | c.2833G>T (p.Asp945Tyr) c.1911G>T n.466G>T c.2884G>T (p.Asp962Tyr) c.2419G>T (p.Asp807Tyr) | gnomAD v4 COSMIC |
18 | g.23539433C= | CA2290165747 | NPC1 | c.2833G= (p.Asp945=) c.1911G= n.466G= c.2884G= (p.Asp962=) c.2419G= (p.Asp807=) | |
18 | g.23539433C>G | CA401792538 | NPC1 | c.2833G>C (p.Asp945His) c.1911G>C n.466G>C c.2884G>C (p.Asp962His) c.2419G>C (p.Asp807His) | |
18 | g.23539433C>T | CA401792539 | NPC1 | c.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 |
18 | g.23539434G>A | CA8912945 | NPC1 | c.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 |
18 | g.23539434G>C | CA401792540 | NPC1 | c.2832C>G (p.Asp944Glu) c.1910C>G n.465C>G c.2883C>G (p.Asp961Glu) c.2418C>G (p.Asp806Glu) | |
18 | g.23539434G= | CA2290165748 | NPC1 | c.2832C= (p.Asp944=) c.1910C= n.465C= c.2883C= (p.Asp961=) c.2418C= (p.Asp806=) | |
18 | g.23539434G>T | CA401792541 | NPC1 | c.2832C>A (p.Asp944Glu) c.1910C>A n.465C>A c.2883C>A (p.Asp961Glu) c.2418C>A (p.Asp806Glu) | |
18 | g.23539435T>A | CA401792544 | NPC1 | c.2831A>T (p.Asp944Val) c.1909A>T n.464A>T c.2882A>T (p.Asp961Val) c.2417A>T (p.Asp806Val) | |
18 | g.23539435T>C | CA401792542 | NPC1 | c.2831A>G (p.Asp944Gly) c.1909A>G n.464A>G c.2882A>G (p.Asp961Gly) c.2417A>G (p.Asp806Gly) | |
18 | g.23539435T>G | CA401792543 | NPC1 | c.2831A>C (p.Asp944Ala) c.1909A>C n.464A>C c.2882A>C (p.Asp961Ala) c.2417A>C (p.Asp806Ala) | |
18 | g.23539436C>A | CA401792545 | NPC1 | c.2830G>T (p.Asp944Tyr) c.1908G>T n.463G>T c.2881G>T (p.Asp961Tyr) c.2416G>T (p.Asp806Tyr) | |
18 | g.23539436C= | CA2290165749 | NPC1 | c.2830G= (p.Asp944=) c.1908G= n.463G= c.2881G= (p.Asp961=) c.2416G= (p.Asp806=) | |
18 | g.23539436C>G | CA401792546 | NPC1 | c.2830G>C (p.Asp944His) c.1908G>C n.463G>C c.2881G>C (p.Asp961His) c.2416G>C (p.Asp806His) | |
18 | g.23539436C>T | CA8912946 | NPC1 | c.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 |
18 | g.23539437G>A | CA503322571 | NPC1 | c.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 |
18 | g.23539437G>C | CA401792547 | NPC1 | c.2829C>G (p.Ile943Met) c.1907C>G n.462C>G c.2880C>G (p.Ile960Met) c.2415C>G (p.Ile805Met) | gnomAD v4 |
18 | g.23539437G= | CA2290165750 | NPC1 | c.2829C= (p.Ile943=) c.1907C= n.462C= c.2880C= (p.Ile960=) c.2415C= (p.Ile805=) | |
18 | g.23539437G>T | CA503322572 | NPC1 | c.2829C>A (p.Ile943=) c.1907C>A n.462C>A c.2880C>A (p.Ile960=) c.2415C>A (p.Ile805=) | |
18 | g.23539438A>C | CA401792548 | NPC1 | c.2828T>G (p.Ile943Ser) c.1906T>G n.461T>G c.2879T>G (p.Ile960Ser) c.2414T>G (p.Ile805Ser) | |
18 | g.23539438A>G | CA401792549 | NPC1 | c.2828T>C (p.Ile943Thr) c.1906T>C n.461T>C c.2879T>C (p.Ile960Thr) c.2414T>C (p.Ile805Thr) | |
18 | g.23539438A>T | CA401792550 | NPC1 | c.2828T>A (p.Ile943Asn) c.1906T>A n.461T>A c.2879T>A (p.Ile960Asn) c.2414T>A (p.Ile805Asn) | |
18 | g.23539439T>A | CA401792551 | NPC1 | c.2827A>T (p.Ile943Phe) c.1905A>T n.460A>T c.2878A>T (p.Ile960Phe) c.2413A>T (p.Ile805Phe) | |
18 | g.23539439T>C | CA401792552 | NPC1 | c.2827A>G (p.Ile943Val) c.1905A>G n.460A>G c.2878A>G (p.Ile960Val) c.2413A>G (p.Ile805Val) | gnomAD v4 |
18 | g.23539439T>G | CA401792553 | NPC1 | c.2827A>C (p.Ile943Leu) c.1905A>C n.460A>C c.2878A>C (p.Ile960Leu) c.2413A>C (p.Ile805Leu) | |
18 | g.23539440C>A | CA401792555 | NPC1 | c.2826G>T (p.Trp942Cys) c.1904G>T n.459G>T c.2877G>T (p.Trp959Cys) c.2412G>T (p.Trp804Cys) | gnomAD v4 |
18 | g.23539440C>G | CA401792556 | NPC1 | c.2826G>C (p.Trp942Cys) c.1904G>C n.459G>C c.2877G>C (p.Trp959Cys) c.2412G>C (p.Trp804Cys) | gnomAD v4 |
18 | g.23539440C>T | CA401792554 | NPC1 | c.2826G>A (p.Trp942Ter) c.1904G>A n.459G>A c.2877G>A (p.Trp959Ter) c.2412G>A (p.Trp804Ter) | |
18 | g.23539441C>A | CA401792557 | NPC1 | c.2825G>T (p.Trp942Leu) c.1903G>T n.458G>T c.2876G>T (p.Trp959Leu) c.2411G>T (p.Trp804Leu) | |
18 | g.23539441C= | CA2290165751 | NPC1 | c.2825G= (p.Trp942=) c.1903G= n.458G= c.2876G= (p.Trp959=) c.2411G= (p.Trp804=) | |
18 | g.23539441C>G | CA401792558 | NPC1 | c.2825G>C (p.Trp942Ser) c.1903G>C n.458G>C c.2876G>C (p.Trp959Ser) c.2411G>C (p.Trp804Ser) | |
18 | g.23539441C>T | CA401792559 | NPC1 | c.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 |
18 | g.23539442A>C | CA401792560 | NPC1 | c.2824T>G (p.Trp942Gly) c.1902T>G n.457T>G c.2875T>G (p.Trp959Gly) c.2410T>G (p.Trp804Gly) | |
18 | g.23539442A>G | CA401792561 | NPC1 | c.2824T>C (p.Trp942Arg) c.1902T>C n.457T>C c.2875T>C (p.Trp959Arg) c.2410T>C (p.Trp804Arg) | |
18 | g.23539442A>T | CA401792562 | NPC1 | c.2824T>A (p.Trp942Arg) c.1902T>A n.457T>A c.2875T>A (p.Trp959Arg) c.2410T>A (p.Trp804Arg) | |
18 | g.23539443G>A | CA503322574 | NPC1 | c.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 |
18 | g.23539443G>C | CA503322575 | NPC1 | c.2823C>G (p.Ser941=) c.1901C>G n.456C>G c.2874C>G (p.Ser958=) c.2409C>G (p.Ser803=) | dbSNP |
18 | g.23539443G= | CA2290165752 | NPC1 | c.2823C= (p.Ser941=) c.1901C= n.456C= c.2874C= (p.Ser958=) c.2409C= (p.Ser803=) | |
18 | g.23539443G>T | CA503322573 | NPC1 | c.2823C>A (p.Ser941=) c.1901C>A n.456C>A c.2874C>A (p.Ser958=) c.2409C>A (p.Ser803=) | |
18 | g.23539444del | CA2499225061 | NPC1 | c.2823del (p.Trp942GlyfsTer9) c.1901del n.456del c.2874del (p.Trp959GlyfsTer9) c.2409del (p.Trp804GlyfsTer9) | ClinVar dbSNP |
18 | g.23539444G>A | CA401792563 | NPC1 | c.2822C>T (p.Ser941Phe) c.1900C>T n.455C>T c.2873C>T (p.Ser958Phe) c.2408C>T (p.Ser803Phe) | |
18 | g.23539444G>C | CA401792564 | NPC1 | c.2822C>G (p.Ser941Cys) c.1900C>G n.455C>G c.2873C>G (p.Ser958Cys) c.2408C>G (p.Ser803Cys) | |
18 | g.23539444G>T | CA401792565 | NPC1 | c.2822C>A (p.Ser941Tyr) c.1900C>A n.455C>A c.2873C>A (p.Ser958Tyr) c.2408C>A (p.Ser803Tyr) | |
18 | g.23539445A>C | CA401792566 | NPC1 | c.2821T>G (p.Ser941Ala) c.1899T>G n.454T>G c.2872T>G (p.Ser958Ala) c.2407T>G (p.Ser803Ala) | |
18 | g.23539445A>G | CA401792567 | NPC1 | c.2821T>C (p.Ser941Pro) c.1899T>C n.454T>C c.2872T>C (p.Ser958Pro) c.2407T>C (p.Ser803Pro) | |
18 | g.23539445A>T | CA401792568 | NPC1 | c.2821T>A (p.Ser941Thr) c.1899T>A n.454T>A c.2872T>A (p.Ser958Thr) c.2407T>A (p.Ser803Thr) | |
18 | g.23539446C>A | CA503322576 | NPC1 | c.2820G>T (p.Ser940=) c.1898G>T n.453G>T c.2871G>T (p.Ser957=) c.2406G>T (p.Ser802=) | |
18 | g.23539446C= | CA2290165753 | NPC1 | c.2820G= (p.Ser940=) c.1898G= n.453G= c.2871G= (p.Ser957=) c.2406G= (p.Ser802=) | |
18 | g.23539446C>G | CA503322577 | NPC1 | c.2820G>C (p.Ser940=) c.1898G>C n.453G>C c.2871G>C (p.Ser957=) c.2406G>C (p.Ser802=) | |
18 | g.23539446C>T | CA8912947 | NPC1 | c.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 |
18 | g.23539447G>A | CA273881 | NPC1 | c.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 |
18 | g.23539447G>C | CA401792570 | NPC1 | c.2819C>G (p.Ser940Trp) c.1897C>G n.452C>G c.2870C>G (p.Ser957Trp) c.2405C>G (p.Ser802Trp) | |
18 | g.23539447G= | CA2290165754 | NPC1 | c.2819C= (p.Ser940=) c.1897C= n.452C= c.2870C= (p.Ser957=) c.2405C= (p.Ser802=) | |
18 | g.23539447G>T | CA401792569 | NPC1 | c.2819C>A (p.Ser940Ter) c.1897C>A n.452C>A c.2870C>A (p.Ser957Ter) c.2405C>A (p.Ser802Ter) | |
18 | g.23539448A>C | CA401792571 | NPC1 | c.2818T>G (p.Ser940Ala) c.1896T>G n.451T>G c.2869T>G (p.Ser957Ala) c.2404T>G (p.Ser802Ala) | |
18 | g.23539448A>G | CA401792572 | NPC1 | c.2818T>C (p.Ser940Pro) c.1896T>C n.451T>C c.2869T>C (p.Ser957Pro) c.2404T>C (p.Ser802Pro) | ClinVar |
18 | g.23539448A>T | CA401792573 | NPC1 | c.2818T>A (p.Ser940Thr) c.1896T>A n.451T>A c.2869T>A (p.Ser957Thr) c.2404T>A (p.Ser802Thr) | |
18 | g.23539449G>A | CA297081193 | NPC1 | c.2817C>T (p.Pro939=) c.1895C>T n.450C>T c.2868C>T (p.Pro956=) c.2403C>T (p.Pro801=) | dbSNP |
18 | g.23539449G>C | CA8912948 | NPC1 | c.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 |
18 | g.23539449G= | CA2290165755 | NPC1 | c.2817C= (p.Pro939=) c.1895C= n.450C= c.2868C= (p.Pro956=) c.2403C= (p.Pro801=) | |
18 | g.23539449G>T | CA503322578 | NPC1 | c.2817C>A (p.Pro939=) c.1895C>A n.450C>A c.2868C>A (p.Pro956=) c.2403C>A (p.Pro801=) | gnomAD v4 |
18 | g.23539453del | CA2641273127 | NPC1 | c.2817del (p.Ser940ArgfsTer11) c.1895del n.450del c.2868del (p.Ser957ArgfsTer11) c.2403del (p.Ser802ArgfsTer11) | gnomAD v4 |
18 | g.23539450G>A | CA401792574 | NPC1 | c.2816C>T (p.Pro939Leu) c.1894C>T n.449C>T c.2867C>T (p.Pro956Leu) c.2402C>T (p.Pro801Leu) | |
18 | g.23539450G>C | CA401792575 | NPC1 | c.2816C>G (p.Pro939Arg) c.1894C>G n.449C>G c.2867C>G (p.Pro956Arg) c.2402C>G (p.Pro801Arg) | |
18 | g.23539450G>T | CA401792576 | NPC1 | c.2816C>A (p.Pro939His) c.1894C>A n.449C>A c.2867C>A (p.Pro956His) c.2402C>A (p.Pro801His) | |
18 | g.23539451G>A | CA401792577 | NPC1 | c.2815C>T (p.Pro939Ser) c.1893C>T n.448C>T c.2866C>T (p.Pro956Ser) c.2401C>T (p.Pro801Ser) | gnomAD v4 |
18 | g.23539451G>C | CA8912949 | NPC1 | c.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 |
18 | g.23539451G= | CA2290165756 | NPC1 | c.2815C= (p.Pro939=) c.1893C= n.448C= c.2866C= (p.Pro956=) c.2401C= (p.Pro801=) | |
18 | g.23539451G>T | CA401792578 | NPC1 | c.2815C>A (p.Pro939Thr) c.1893C>A n.448C>A c.2866C>A (p.Pro956Thr) c.2401C>A (p.Pro801Thr) | |
18 | g.23539452G>A | CA503322579 | NPC1 | c.2814C>T (p.Ala938=) c.1892C>T n.447C>T c.2865C>T (p.Ala955=) c.2400C>T (p.Ala800=) | |
18 | g.23539452G>C | CA503322580 | NPC1 | c.2814C>G (p.Ala938=) c.1892C>G n.447C>G c.2865C>G (p.Ala955=) c.2400C>G (p.Ala800=) | |
18 | g.23539452G>T | CA503322581 | NPC1 | c.2814C>A (p.Ala938=) c.1892C>A n.447C>A c.2865C>A (p.Ala955=) c.2400C>A (p.Ala800=) | |
18 | g.23539453G>A | CA401792579 | NPC1 | c.2813C>T (p.Ala938Val) c.1891C>T n.446C>T c.2864C>T (p.Ala955Val) c.2399C>T (p.Ala800Val) | |
18 | g.23539453G>C | CA401792580 | NPC1 | c.2813C>G (p.Ala938Gly) c.1891C>G n.446C>G c.2864C>G (p.Ala955Gly) c.2399C>G (p.Ala800Gly) | |
18 | g.23539453G>T | CA401792581 | NPC1 | c.2813C>A (p.Ala938Asp) c.1891C>A n.446C>A c.2864C>A (p.Ala955Asp) c.2399C>A (p.Ala800Asp) |