Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.23539823T>ACA401792652NPC1c.2783A>T (p.Gln928Leu)
n.2697A>T
n.574A>T
c.1861A>T
n.76A>T
c.2834A>T (p.Gln945Leu)
c.2369A>T (p.Gln790Leu)
18g.23539823T>CCA401792653NPC1c.2783A>G (p.Gln928Arg)
n.2697A>G
n.574A>G
c.1861A>G
n.76A>G
c.2834A>G (p.Gln945Arg)
c.2369A>G (p.Gln790Arg)
18g.23539823T>GCA252496NPC1c.2783A>C (p.Gln928Pro)
n.2697A>C
n.574A>C
c.1861A>C
n.76A>C
c.2834A>C (p.Gln945Pro)
c.2369A>C (p.Gln790Pro)
 ClinVar dbSNP gnomAD v4
18g.23539823T=CA2290165912NPC1c.2783A= (p.Gln928=)
n.2697A=
n.574A=
c.1861A=
n.76A=
c.2834A= (p.Gln945=)
c.2369A= (p.Gln790=)
18g.23539824G>ACA401792654NPC1c.2782C>T (p.Gln928Ter)
n.2696C>T
n.573C>T
c.1860C>T
n.75C>T
c.2833C>T (p.Gln945Ter)
c.2368C>T (p.Gln790Ter)
 ClinVar
18g.23539824G>CCA401792656NPC1c.2782C>G (p.Gln928Glu)
n.2696C>G
n.573C>G
c.1860C>G
n.75C>G
c.2833C>G (p.Gln945Glu)
c.2368C>G (p.Gln790Glu)
18g.23539824G>TCA401792655NPC1c.2782C>A (p.Gln928Lys)
n.2696C>A
n.573C>A
c.1860C>A
n.75C>A
c.2833C>A (p.Gln945Lys)
c.2368C>A (p.Gln790Lys)
18g.23539825C>ACA503322600NPC1c.2781G>T (p.Ala927=)
n.2695G>T
n.572G>T
c.1859G>T
n.74G>T
c.2832G>T (p.Ala944=)
c.2367G>T (p.Ala789=)
 gnomAD v4
18g.23539825C=CA2290165913NPC1c.2781G= (p.Ala927=)
n.2695G=
n.572G=
c.1859G=
n.74G=
c.2832G= (p.Ala944=)
c.2367G= (p.Ala789=)
18g.23539825C>GCA503322599NPC1c.2781G>C (p.Ala927=)
n.2695G>C
n.572G>C
c.1859G>C
n.74G>C
c.2832G>C (p.Ala944=)
c.2367G>C (p.Ala789=)
18g.23539825C>TCA8912978NPC1c.2781G>A (p.Ala927=)
n.2695G>A
n.572G>A
c.1859G>A
n.74G>A
c.2832G>A (p.Ala944=)
c.2367G>A (p.Ala789=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23539826G>ACA8912979NPC1c.2780C>T (p.Ala927Val)
n.2694C>T
n.571C>T
c.1858C>T
n.73C>T
c.2831C>T (p.Ala944Val)
c.2366C>T (p.Ala789Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
18g.23539826G>CCA401792657NPC1c.2780C>G (p.Ala927Gly)
n.2694C>G
n.571C>G
c.1858C>G
n.73C>G
c.2831C>G (p.Ala944Gly)
c.2366C>G (p.Ala789Gly)
 ClinVar
18g.23539826G=CA2290165914NPC1c.2780C= (p.Ala927=)
n.2694C=
n.571C=
c.1858C=
n.73C=
c.2831C= (p.Ala944=)
c.2366C= (p.Ala789=)
18g.23539826G>TCA401792658NPC1c.2780C>A (p.Ala927Glu)
n.2694C>A
n.571C>A
c.1858C>A
n.73C>A
c.2831C>A (p.Ala944Glu)
c.2366C>A (p.Ala789Glu)
18g.23539827C>ACA401792661NPC1c.2779G>T (p.Ala927Ser)
n.2693G>T
n.570G>T
c.1857G>T
n.72G>T
c.2830G>T (p.Ala944Ser)
c.2365G>T (p.Ala789Ser)
18g.23539827C>GCA401792660NPC1c.2779G>C (p.Ala927Pro)
n.2693G>C
n.570G>C
c.1857G>C
n.72G>C
c.2830G>C (p.Ala944Pro)
c.2365G>C (p.Ala789Pro)
18g.23539827C>TCA401792659NPC1c.2779G>A (p.Ala927Thr)
n.2693G>A
n.570G>A
c.1857G>A
n.72G>A
c.2830G>A (p.Ala944Thr)
c.2365G>A (p.Ala789Thr)
 ClinVar gnomAD v4
18g.23539828dupCA2695227443NPC1c.2779dup (p.Ala927GlyfsTer?)
n.2693dup
n.570dup
c.1857dup
n.72dup
c.2830dup (p.Ala944GlyfsTer?)
c.2365dup (p.Ala789GlyfsTer?)
18g.23539828C>ACA503322601NPC1c.2778G>T (p.Ala926=)
n.2692G>T
n.569G>T
c.1856G>T
n.71G>T
c.2829G>T (p.Ala943=)
c.2364G>T (p.Ala788=)
18g.23539828C=CA2290165915NPC1c.2778G= (p.Ala926=)
n.2692G=
n.569G=
c.1856G=
n.71G=
c.2829G= (p.Ala943=)
c.2364G= (p.Ala788=)
18g.23539828C>GCA503322602NPC1c.2778G>C (p.Ala926=)
n.2692G>C
n.569G>C
c.1856G>C
n.71G>C
c.2829G>C (p.Ala943=)
c.2364G>C (p.Ala788=)
18g.23539828C>TCA8912980NPC1c.2778G>A (p.Ala926=)
n.2692G>A
n.569G>A
c.1856G>A
n.71G>A
c.2829G>A (p.Ala943=)
c.2364G>A (p.Ala788=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23539829G>ACA297012NPC1c.2777C>T (p.Ala926Val)
n.2691C>T
n.568C>T
c.1855C>T
n.70C>T
c.2828C>T (p.Ala943Val)
c.2363C>T (p.Ala788Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23539829G>CCA401792662NPC1c.2777C>G (p.Ala926Gly)
n.2691C>G
n.568C>G
c.1855C>G
n.70C>G
c.2828C>G (p.Ala943Gly)
c.2363C>G (p.Ala788Gly)
18g.23539829G=CA2290165916NPC1c.2777C= (p.Ala926=)
n.2691C=
n.568C=
c.1855C=
n.70C=
c.2828C= (p.Ala943=)
c.2363C= (p.Ala788=)
18g.23539829G>TCA401792663NPC1c.2777C>A (p.Ala926Glu)
n.2691C>A
n.568C>A
c.1855C>A
n.70C>A
c.2828C>A (p.Ala943Glu)
c.2363C>A (p.Ala788Glu)
18g.23539830C>ACA401792664NPC1c.2776G>T (p.Ala926Ser)
n.2690G>T
n.567G>T
c.1854G>T
n.69G>T
c.2827G>T (p.Ala943Ser)
c.2362G>T (p.Ala788Ser)
18g.23539830C=CA2290165917NPC1c.2776G= (p.Ala926=)
n.2690G=
n.567G=
c.1854G=
n.69G=
c.2827G= (p.Ala943=)
c.2362G= (p.Ala788=)
18g.23539830C>GCA401792665NPC1c.2776G>C (p.Ala926Pro)
n.2690G>C
n.567G>C
c.1854G>C
n.69G>C
c.2827G>C (p.Ala943Pro)
c.2362G>C (p.Ala788Pro)
18g.23539830C>TCA8912981NPC1c.2776G>A (p.Ala926Thr)
n.2690G>A
n.567G>A
c.1854G>A
n.69G>A
c.2827G>A (p.Ala943Thr)
c.2362G>A (p.Ala788Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23539830_23539831delinsCGCA2290165918NPC1c.2775_2776delinsCG (p.Asn925=)
n.2689_2690delinsCG
n.566_567delinsCG
c.1853_1854delinsCG
n.68_69delinsCG
c.2826_2827delinsCG (p.Asn942=)
c.2361_2362delinsCG (p.Asn787=)
18g.23539831delCA16041912NPC1c.2775del (p.Asn925LysfsTer11)
n.2689del
n.566del
c.1853del
n.68del
c.2826del (p.Asn942LysfsTer11)
c.2361del (p.Asn787LysfsTer11)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.23539831G>ACA8912982NPC1c.2775C>T (p.Asn925=)
n.2689C>T
n.566C>T
c.1853C>T
n.68C>T
c.2826C>T (p.Asn942=)
c.2361C>T (p.Asn787=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23539831G>CCA401792666NPC1c.2775C>G (p.Asn925Lys)
n.2689C>G
n.566C>G
c.1853C>G
n.68C>G
c.2826C>G (p.Asn942Lys)
c.2361C>G (p.Asn787Lys)
 dbSNP gnomAD v2 gnomAD v4
18g.23539831G=CA2290165919NPC1c.2775C= (p.Asn925=)
n.2689C=
n.566C=
c.1853C=
n.68C=
c.2826C= (p.Asn942=)
c.2361C= (p.Asn787=)
18g.23539831G>TCA401792667NPC1c.2775C>A (p.Asn925Lys)
n.2689C>A
n.566C>A
c.1853C>A
n.68C>A
c.2826C>A (p.Asn942Lys)
c.2361C>A (p.Asn787Lys)
18g.23539832T>ACA401792668NPC1c.2774A>T (p.Asn925Ile)
n.2688A>T
n.565A>T
c.1852A>T
n.67A>T
c.2825A>T (p.Asn942Ile)
c.2360A>T (p.Asn787Ile)
18g.23539832T>CCA401792669NPC1c.2774A>G (p.Asn925Ser)
n.2688A>G
n.565A>G
c.1852A>G
n.67A>G
c.2825A>G (p.Asn942Ser)
c.2360A>G (p.Asn787Ser)
18g.23539832T>GCA401792670NPC1c.2774A>C (p.Asn925Thr)
n.2688A>C
n.565A>C
c.1852A>C
n.67A>C
c.2825A>C (p.Asn942Thr)
c.2360A>C (p.Asn787Thr)
18g.23539833T>ACA401792671NPC1c.2773A>T (p.Asn925Tyr)
n.2687A>T
n.564A>T
c.1851A>T
n.66A>T
c.2824A>T (p.Asn942Tyr)
c.2359A>T (p.Asn787Tyr)
18g.23539833T>CCA401792672NPC1c.2773A>G (p.Asn925Asp)
n.2687A>G
n.564A>G
c.1851A>G
n.66A>G
c.2824A>G (p.Asn942Asp)
c.2359A>G (p.Asn787Asp)
18g.23539833T>GCA401792673NPC1c.2773A>C (p.Asn925His)
n.2687A>C
n.564A>C
c.1851A>C
n.66A>C
c.2824A>C (p.Asn942His)
c.2359A>C (p.Asn787His)
18g.23539834A>CCA401792674NPC1c.2772T>G (p.Phe924Leu)
n.2686T>G
n.563T>G
c.1850T>G
n.65T>G
c.2823T>G (p.Phe941Leu)
c.2358T>G (p.Phe786Leu)
18g.23539834A>GCA503322603NPC1c.2772T>C (p.Phe924=)
n.2686T>C
n.563T>C
c.1850T>C
n.65T>C
c.2823T>C (p.Phe941=)
c.2358T>C (p.Phe786=)
18g.23539834A>TCA401792675NPC1c.2772T>A (p.Phe924Leu)
n.2686T>A
n.563T>A
c.1850T>A
n.65T>A
c.2823T>A (p.Phe941Leu)
c.2358T>A (p.Phe786Leu)
18g.23539835A>CCA401792676NPC1c.2771T>G (p.Phe924Cys)
n.2685T>G
n.562T>G
c.1849T>G
n.64T>G
c.2822T>G (p.Phe941Cys)
c.2357T>G (p.Phe786Cys)
18g.23539835A>GCA401792678NPC1c.2771T>C (p.Phe924Ser)
n.2685T>C
n.562T>C
c.1849T>C
n.64T>C
c.2822T>C (p.Phe941Ser)
c.2357T>C (p.Phe786Ser)
18g.23539835A>TCA401792677NPC1c.2771T>A (p.Phe924Tyr)
n.2685T>A
n.562T>A
c.1849T>A
n.64T>A
c.2822T>A (p.Phe941Tyr)
c.2357T>A (p.Phe786Tyr)
18g.23539836A>CCA401792679NPC1c.2770T>G (p.Phe924Val)
n.2684T>G
n.561T>G
c.1848T>G
n.63T>G
c.2821T>G (p.Phe941Val)
c.2356T>G (p.Phe786Val)
18g.23539836A>GCA401792680NPC1c.2770T>C (p.Phe924Leu)
n.2684T>C
n.561T>C
c.1848T>C
n.63T>C
c.2821T>C (p.Phe941Leu)
c.2356T>C (p.Phe786Leu)
 ClinVar
18g.23539836A>TCA401792681NPC1c.2770T>A (p.Phe924Ile)
n.2684T>A
n.561T>A
c.1848T>A
n.63T>A
c.2821T>A (p.Phe941Ile)
c.2356T>A (p.Phe786Ile)
18g.23539837T>ACA503322604NPC1c.2769A>T (p.Ile923=)
n.2683A>T
n.560A>T
c.1847A>T
n.62A>T
c.2820A>T (p.Ile940=)
c.2355A>T (p.Ile785=)
18g.23539837T>CCA401792682NPC1c.2769A>G (p.Ile923Met)
n.2683A>G
n.560A>G
c.1847A>G
n.62A>G
c.2820A>G (p.Ile940Met)
c.2355A>G (p.Ile785Met)
 gnomAD v4
18g.23539837T>GCA503322605NPC1c.2769A>C (p.Ile923=)
n.2683A>C
n.560A>C
c.1847A>C
n.62A>C
c.2820A>C (p.Ile940=)
c.2355A>C (p.Ile785=)
18g.23539838A>CCA401792683NPC1c.2768T>G (p.Ile923Arg)
n.2682T>G
n.559T>G
c.1846T>G
n.61T>G
c.2819T>G (p.Ile940Arg)
c.2354T>G (p.Ile785Arg)
18g.23539838A>GCA401792684NPC1c.2768T>C (p.Ile923Thr)
n.2682T>C
n.559T>C
c.1846T>C
n.61T>C
c.2819T>C (p.Ile940Thr)
c.2354T>C (p.Ile785Thr)
18g.23539838A>TCA401792685NPC1c.2768T>A (p.Ile923Lys)
n.2682T>A
n.559T>A
c.1846T>A
n.61T>A
c.2819T>A (p.Ile940Lys)
c.2354T>A (p.Ile785Lys)
18g.23539839T>ACA401792686NPC1c.2767A>T (p.Ile923Leu)
n.2681A>T
n.558A>T
c.1845A>T
n.60A>T
c.2818A>T (p.Ile940Leu)
c.2353A>T (p.Ile785Leu)
18g.23539839T>CCA401792687NPC1c.2767A>G (p.Ile923Val)
n.2681A>G
n.558A>G
c.1845A>G
n.60A>G
c.2818A>G (p.Ile940Val)
c.2353A>G (p.Ile785Val)
 ClinVar dbSNP gnomAD v4
18g.23539839T>GCA401792688NPC1c.2767A>C (p.Ile923Leu)
n.2681A>C
n.558A>C
c.1845A>C
n.60A>C
c.2818A>C (p.Ile940Leu)
c.2353A>C (p.Ile785Leu)
18g.23539839T=CA2290165920NPC1c.2767A= (p.Ile923=)
n.2681A=
n.558A=
c.1845A=
n.60A=
c.2818A= (p.Ile940=)
c.2353A= (p.Ile785=)
18g.23539840C>ACA401792689NPC1c.2766G>T (p.Gln922His)
n.2680G>T
n.557G>T
c.1844G>T
n.59G>T
c.2817G>T (p.Gln939His)
c.2352G>T (p.Gln784His)
18g.23539840C>GCA401792690NPC1c.2766G>C (p.Gln922His)
n.2680G>C
n.557G>C
c.1844G>C
n.59G>C
c.2817G>C (p.Gln939His)
c.2352G>C (p.Gln784His)
18g.23539840C>TCA503322606NPC1c.2766G>A (p.Gln922=)
n.2680G>A
n.557G>A
c.1844G>A
n.59G>A
c.2817G>A (p.Gln939=)
c.2352G>A (p.Gln784=)
18g.23539841T>ACA401792691NPC1c.2765A>T (p.Gln922Leu)
n.2679A>T
n.556A>T
c.1843A>T
n.58A>T
c.2816A>T (p.Gln939Leu)
c.2351A>T (p.Gln784Leu)
18g.23539841T>CCA401792692NPC1c.2765A>G (p.Gln922Arg)
n.2679A>G
n.556A>G
c.1843A>G
n.58A>G
c.2816A>G (p.Gln939Arg)
c.2351A>G (p.Gln784Arg)
18g.23539841T>GCA401792693NPC1c.2765A>C (p.Gln922Pro)
n.2679A>C
n.556A>C
c.1843A>C
n.58A>C
c.2816A>C (p.Gln939Pro)
c.2351A>C (p.Gln784Pro)
18g.23539842G>ACA274292NPC1c.2764C>T (p.Gln922Ter)
n.2678C>T
n.555C>T
c.1842C>T
n.57C>T
c.2815C>T (p.Gln939Ter)
c.2350C>T (p.Gln784Ter)
 ClinVar dbSNP gnomAD v4
18g.23539842G>CCA401792694NPC1c.2764C>G (p.Gln922Glu)
n.2678C>G
n.555C>G
c.1842C>G
n.57C>G
c.2815C>G (p.Gln939Glu)
c.2350C>G (p.Gln784Glu)
18g.23539842G=CA2290165921NPC1c.2764C= (p.Gln922=)
n.2678C=
n.555C=
c.1842C=
n.57C=
c.2815C= (p.Gln939=)
c.2350C= (p.Gln784=)
18g.23539842G>TCA401792695NPC1c.2764C>A (p.Gln922Lys)
n.2678C>A
n.555C>A
c.1842C>A
n.57C>A
c.2815C>A (p.Gln939Lys)
c.2350C>A (p.Gln784Lys)
 gnomAD v4
18g.23539843C>ACA401792696NPC1c.2763G>T (p.Gln921His)
n.2677G>T
n.554G>T
c.1841G>T
n.56G>T
c.2814G>T (p.Gln938His)
c.2349G>T (p.Gln783His)
18g.23539843C>GCA401792697NPC1c.2763G>C (p.Gln921His)
n.2677G>C
n.554G>C
c.1841G>C
n.56G>C
c.2814G>C (p.Gln938His)
c.2349G>C (p.Gln783His)
18g.23539843C>TCA503322607NPC1c.2763G>A (p.Gln921=)
n.2677G>A
n.554G>A
c.1841G>A
n.56G>A
c.2814G>A (p.Gln938=)
c.2349G>A (p.Gln783=)
18g.23539843_23539844delinsCTCA2290165922NPC1c.2762_2763delinsAG (p.Gln921=)
n.2676_2677delinsAG
n.553_554delinsAG
c.1840_1841delinsAG
n.55_56delinsAG
c.2813_2814delinsAG (p.Gln938=)
c.2348_2349delinsAG (p.Gln783=)
18g.23539844delCA777719882NPC1c.2762del (p.Gln921ArgfsTer15)
n.2676del
n.553del
c.1840del
n.55del
c.2813del (p.Gln938ArgfsTer15)
c.2348del (p.Gln783ArgfsTer15)
 dbSNP gnomAD v3 gnomAD v4
18g.23539844T>ACA401792698NPC1c.2762A>T (p.Gln921Leu)
n.2676A>T
n.553A>T
c.1840A>T
n.55A>T
c.2813A>T (p.Gln938Leu)
c.2348A>T (p.Gln783Leu)
18g.23539844T>CCA401792699NPC1c.2762A>G (p.Gln921Arg)
n.2676A>G
n.553A>G
c.1840A>G
n.55A>G
c.2813A>G (p.Gln938Arg)
c.2348A>G (p.Gln783Arg)
18g.23539844T>GCA401792700NPC1c.2762A>C (p.Gln921Pro)
n.2676A>C
n.553A>C
c.1840A>C
n.55A>C
c.2813A>C (p.Gln938Pro)
c.2348A>C (p.Gln783Pro)
 gnomAD v4
18g.23539845G>ACA274036NPC1c.2761C>T (p.Gln921Ter)
n.2675C>T
n.552C>T
c.1839C>T
n.54C>T
c.2812C>T (p.Gln938Ter)
c.2347C>T (p.Gln783Ter)
 ClinVar dbSNP gnomAD v4
18g.23539845G>CCA401792702NPC1c.2761C>G (p.Gln921Glu)
n.2675C>G
n.552C>G
c.1839C>G
n.54C>G
c.2812C>G (p.Gln938Glu)
c.2347C>G (p.Gln783Glu)
18g.23539845G=CA2290165923NPC1c.2761C= (p.Gln921=)
n.2675C=
n.552C=
c.1839C=
n.54C=
c.2812C= (p.Gln938=)
c.2347C= (p.Gln783=)
18g.23539845G>TCA401792701NPC1c.2761C>A (p.Gln921Lys)
n.2675C>A
n.552C>A
c.1839C>A
n.54C>A
c.2812C>A (p.Gln938Lys)
c.2347C>A (p.Gln783Lys)
18g.23539846C>ACA503322610NPC1c.2760G>T (p.Val920=)
n.2674G>T
n.551G>T
c.1838G>T
n.53G>T
c.2811G>T (p.Val937=)
c.2346G>T (p.Val782=)
18g.23539846C>GCA503322609NPC1c.2760G>C (p.Val920=)
n.2674G>C
n.551G>C
c.1838G>C
n.53G>C
c.2811G>C (p.Val937=)
c.2346G>C (p.Val782=)
18g.23539846C>TCA503322608NPC1c.2760G>A (p.Val920=)
n.2674G>A
n.551G>A
c.1838G>A
n.53G>A
c.2811G>A (p.Val937=)
c.2346G>A (p.Val782=)
 ClinVar dbSNP
18g.23539847A=CA2290165924NPC1c.2759T= (p.Val920=)
n.2673T=
n.550T=
c.1837T=
n.52T=
c.2810T= (p.Val937=)
c.2345T= (p.Val782=)
18g.23539847A>CCA401792703NPC1c.2759T>G (p.Val920Gly)
n.2673T>G
n.550T>G
c.1837T>G
n.52T>G
c.2810T>G (p.Val937Gly)
c.2345T>G (p.Val782Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23539847A>GCA401792704NPC1c.2759T>C (p.Val920Ala)
n.2673T>C
n.550T>C
c.1837T>C
n.52T>C
c.2810T>C (p.Val937Ala)
c.2345T>C (p.Val782Ala)
 gnomAD v4
18g.23539847A>TCA401792706NPC1c.2759T>A (p.Val920Glu)
n.2673T>A
n.550T>A
c.1837T>A
n.52T>A
c.2810T>A (p.Val937Glu)
c.2345T>A (p.Val782Glu)
18g.23539848C>ACA401792708NPC1c.2758G>T (p.Val920Leu)
n.2672G>T
n.549G>T
c.1836G>T
n.51G>T
c.2809G>T (p.Val937Leu)
c.2344G>T (p.Val782Leu)
18g.23539848C>GCA401792709NPC1c.2758G>C (p.Val920Leu)
n.2672G>C
n.549G>C
c.1836G>C
n.51G>C
c.2809G>C (p.Val937Leu)
c.2344G>C (p.Val782Leu)
18g.23539848C>TCA401792710NPC1c.2758G>A (p.Val920Met)
n.2672G>A
n.549G>A
c.1836G>A
n.51G>A
c.2809G>A (p.Val937Met)
c.2344G>A (p.Val782Met)
 ClinVar gnomAD v4
18g.23539849C>ACA8912984NPC1c.2757G>T (p.Leu919=)
n.2671G>T
n.548G>T
c.1835G>T
n.50G>T
c.2808G>T (p.Leu936=)
c.2343G>T (p.Leu781=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23539849C=CA2290165925NPC1c.2757G= (p.Leu919=)
n.2671G=
n.548G=
c.1835G=
n.50G=
c.2808G= (p.Leu936=)
c.2343G= (p.Leu781=)
18g.23539849C>GCA8912983NPC1c.2757G>C (p.Leu919=)
n.2671G>C
n.548G>C
c.1835G>C
n.50G>C
c.2808G>C (p.Leu936=)
c.2343G>C (p.Leu781=)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23539849C>TCA503322611NPC1c.2757G>A (p.Leu919=)
n.2671G>A
n.548G>A
c.1835G>A
n.50G>A
c.2808G>A (p.Leu936=)
c.2343G>A (p.Leu781=)
 gnomAD v4
18g.23539850A>CCA401792711NPC1c.2756T>G (p.Leu919Arg)
n.2670T>G
n.547T>G
c.1834T>G
n.49T>G
c.2807T>G (p.Leu936Arg)
c.2342T>G (p.Leu781Arg)
18g.23539850A>GCA401792712NPC1c.2756T>C (p.Leu919Pro)
n.2670T>C
n.547T>C
c.1834T>C
n.49T>C
c.2807T>C (p.Leu936Pro)
c.2342T>C (p.Leu781Pro)
18g.23539850A>TCA401792713NPC1c.2756T>A (p.Leu919Gln)
n.2670T>A
n.547T>A
c.1834T>A
n.49T>A
c.2807T>A (p.Leu936Gln)
c.2342T>A (p.Leu781Gln)
 ClinVar
18g.23539851G>ACA503322612NPC1c.2755C>T (p.Leu919=)
n.2669C>T
n.546C>T
c.1833C>T
n.48C>T
c.2806C>T (p.Leu936=)
c.2341C>T (p.Leu781=)
18g.23539851G>CCA401792714NPC1c.2755C>G (p.Leu919Val)
n.2669C>G
n.546C>G
c.1833C>G
n.48C>G
c.2806C>G (p.Leu936Val)
c.2341C>G (p.Leu781Val)
18g.23539851G>TCA401792715NPC1c.2755C>A (p.Leu919Met)
n.2669C>A
n.546C>A
c.1833C>A
n.48C>A
c.2806C>A (p.Leu936Met)
c.2341C>A (p.Leu781Met)
18g.23539852G>ACA503322613NPC1c.2754C>T (p.Ser918=)
n.2668C>T
n.545C>T
c.1832C>T
n.47C>T
c.2805C>T (p.Ser935=)
c.2340C>T (p.Ser780=)
18g.23539852G>CCA503322615NPC1c.2754C>G (p.Ser918=)
n.2668C>G
n.545C>G
c.1832C>G
n.47C>G
c.2805C>G (p.Ser935=)
c.2340C>G (p.Ser780=)
 gnomAD v4
18g.23539852G>TCA503322614NPC1c.2754C>A (p.Ser918=)
n.2668C>A
n.545C>A
c.1832C>A
n.47C>A
c.2805C>A (p.Ser935=)
c.2340C>A (p.Ser780=)
18g.23539853G>ACA401792717NPC1c.2753C>T (p.Ser918Phe)
n.2667C>T
n.544C>T
c.1831C>T
n.46C>T
c.2804C>T (p.Ser935Phe)
c.2339C>T (p.Ser780Phe)
 COSMIC
18g.23539853G>CCA401792718NPC1c.2753C>G (p.Ser918Cys)
n.2667C>G
n.544C>G
c.1831C>G
n.46C>G
c.2804C>G (p.Ser935Cys)
c.2339C>G (p.Ser780Cys)
18g.23539853G>TCA401792716NPC1c.2753C>A (p.Ser918Tyr)
n.2667C>A
n.544C>A
c.1831C>A
n.46C>A
c.2804C>A (p.Ser935Tyr)
c.2339C>A (p.Ser780Tyr)
18g.23539854A>CCA401792719NPC1c.2752T>G (p.Ser918Ala)
n.2666T>G
n.543T>G
c.1830T>G
n.45T>G
c.2803T>G (p.Ser935Ala)
c.2338T>G (p.Ser780Ala)
 gnomAD v4
18g.23539854A>GCA401792720NPC1c.2752T>C (p.Ser918Pro)
n.2666T>C
n.543T>C
c.1830T>C
n.45T>C
c.2803T>C (p.Ser935Pro)
c.2338T>C (p.Ser780Pro)
18g.23539854A>TCA401792721NPC1c.2752T>A (p.Ser918Thr)
n.2666T>A
n.543T>A
c.1830T>A
n.45T>A
c.2803T>A (p.Ser935Thr)
c.2338T>A (p.Ser780Thr)
18g.23539855A>CCA401792722NPC1c.2751T>G (p.Asp917Glu)
n.2665T>G
n.542T>G
c.1829T>G
n.44T>G
c.2802T>G (p.Asp934Glu)
c.2337T>G (p.Asp779Glu)
18g.23539855A>GCA503322616NPC1c.2751T>C (p.Asp917=)
n.2665T>C
n.542T>C
c.1829T>C
n.44T>C
c.2802T>C (p.Asp934=)
c.2337T>C (p.Asp779=)
18g.23539855A>TCA401792723NPC1c.2751T>A (p.Asp917Glu)
n.2665T>A
n.542T>A
c.1829T>A
n.44T>A
c.2802T>A (p.Asp934Glu)
c.2337T>A (p.Asp779Glu)
18g.23539857_23539872delCA2580095523NPC1c.2736_2751del (p.Met912IlefsTer19)
n.2650_2665del
n.527_542del
c.1814_1829del
n.29_44del
c.2787_2802del (p.Met929IlefsTer19)
c.2322_2337del (p.Met774IlefsTer19)
 ClinVar
18g.23539856T>ACA401792726NPC1c.2750A>T (p.Asp917Val)
n.2664A>T
n.541A>T
c.1828A>T
n.43A>T
c.2801A>T (p.Asp934Val)
c.2336A>T (p.Asp779Val)
18g.23539856T>CCA401792724NPC1c.2750A>G (p.Asp917Gly)
n.2664A>G
n.541A>G
c.1828A>G
n.43A>G
c.2801A>G (p.Asp934Gly)
c.2336A>G (p.Asp779Gly)
18g.23539856T>GCA401792725NPC1c.2750A>C (p.Asp917Ala)
n.2664A>C
n.541A>C
c.1828A>C
n.43A>C
c.2801A>C (p.Asp934Ala)
c.2336A>C (p.Asp779Ala)
18g.23539857C>ACA401792727NPC1c.2749G>T (p.Asp917Tyr)
n.2663G>T
n.540G>T
c.1827G>T
n.42G>T
c.2800G>T (p.Asp934Tyr)
c.2335G>T (p.Asp779Tyr)
 gnomAD v4
18g.23539857C>GCA401792728NPC1c.2749G>C (p.Asp917His)
n.2663G>C
n.540G>C
c.1827G>C
n.42G>C
c.2800G>C (p.Asp934His)
c.2335G>C (p.Asp779His)
18g.23539857C>TCA401792729NPC1c.2749G>A (p.Asp917Asn)
n.2663G>A
n.540G>A
c.1827G>A
n.42G>A
c.2800G>A (p.Asp934Asn)
c.2335G>A (p.Asp779Asn)
18g.23539857_23539860delinsCATTCA2290165926NPC1c.2746_2749delinsAATG (p.Asn916=)
n.2660_2663delinsAATG
n.537_540delinsAATG
c.1824_1827delinsAATG
n.39_42delinsAATG
c.2797_2800delinsAATG (p.Asn933=)
c.2332_2335delinsAATG (p.Asn778=)
18g.23539858A=CA2290165927NPC1c.2748T= (p.Asn916=)
n.2662T=
n.539T=
c.1826T=
n.41T=
c.2799T= (p.Asn933=)
c.2334T= (p.Asn778=)
18g.23539858A>CCA401792730NPC1c.2748T>G (p.Asn916Lys)
n.2662T>G
n.539T>G
c.1826T>G
n.41T>G
c.2799T>G (p.Asn933Lys)
c.2334T>G (p.Asn778Lys)
 dbSNP gnomAD v2 gnomAD v4
18g.23539858A>GCA503322617NPC1c.2748T>C (p.Asn916=)
n.2662T>C
n.539T>C
c.1826T>C
n.41T>C
c.2799T>C (p.Asn933=)
c.2334T>C (p.Asn778=)
 ClinVar
18g.23539858A>TCA401792731NPC1c.2748T>A (p.Asn916Lys)
n.2662T>A
n.539T>A
c.1826T>A
n.41T>A
c.2799T>A (p.Asn933Lys)
c.2334T>A (p.Asn778Lys)
18g.23539858_23539860delCA628978765NPC1c.2746_2748del (p.Asn916del)
n.2660_2662del
n.537_539del
c.1824_1826del
n.39_41del
c.2797_2799del (p.Asn933del)
c.2332_2334del (p.Asn778del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23539859T>ACA401792733NPC1c.2747A>T (p.Asn916Ile)
n.2661A>T
n.538A>T
c.1825A>T
n.40A>T
c.2798A>T (p.Asn933Ile)
c.2333A>T (p.Asn778Ile)
18g.23539859T>CCA8912985NPC1c.2747A>G (p.Asn916Ser)
n.2661A>G
n.538A>G
c.1825A>G
n.40A>G
c.2798A>G (p.Asn933Ser)
c.2333A>G (p.Asn778Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23539859T>GCA401792732NPC1c.2747A>C (p.Asn916Thr)
n.2661A>C
n.538A>C
c.1825A>C
n.40A>C
c.2798A>C (p.Asn933Thr)
c.2333A>C (p.Asn778Thr)
18g.23539859T=CA2290165928NPC1c.2747A= (p.Asn916=)
n.2661A=
n.538A=
c.1825A=
n.40A=
c.2798A= (p.Asn933=)
c.2333A= (p.Asn778=)
18g.23539860T>ACA401792734NPC1c.2746A>T (p.Asn916Tyr)
n.2660A>T
n.537A>T
c.1824A>T
n.39A>T
c.2797A>T (p.Asn933Tyr)
c.2332A>T (p.Asn778Tyr)
18g.23539860T>CCA401792735NPC1c.2746A>G (p.Asn916Asp)
n.2660A>G
n.537A>G
c.1824A>G
n.39A>G
c.2797A>G (p.Asn933Asp)
c.2332A>G (p.Asn778Asp)
18g.23539860T>GCA401792736NPC1c.2746A>C (p.Asn916His)
n.2660A>C
n.537A>C
c.1824A>C
n.39A>C
c.2797A>C (p.Asn933His)
c.2332A>C (p.Asn778His)
18g.23539861G>ACA503322618NPC1c.2745C>T (p.Asn915=)
n.2659C>T
n.536C>T
c.1823C>T
n.38C>T
c.2796C>T (p.Asn932=)
c.2331C>T (p.Asn777=)
18g.23539861G>CCA401792737NPC1c.2745C>G (p.Asn915Lys)
n.2659C>G
n.536C>G
c.1823C>G
n.38C>G
c.2796C>G (p.Asn932Lys)
c.2331C>G (p.Asn777Lys)
18g.23539861G>TCA401792738NPC1c.2745C>A (p.Asn915Lys)
n.2659C>A
n.536C>A
c.1823C>A
n.38C>A
c.2796C>A (p.Asn932Lys)
c.2331C>A (p.Asn777Lys)
18g.23539862T>ACA401792739NPC1c.2744A>T (p.Asn915Ile)
n.2658A>T
n.535A>T
c.1822A>T
n.37A>T
c.2795A>T (p.Asn932Ile)
c.2330A>T (p.Asn777Ile)
18g.23539862T>CCA401792740NPC1c.2744A>G (p.Asn915Ser)
n.2658A>G
n.535A>G
c.1822A>G
n.37A>G
c.2795A>G (p.Asn932Ser)
c.2330A>G (p.Asn777Ser)
18g.23539862T>GCA401792741NPC1c.2744A>C (p.Asn915Thr)
n.2658A>C
n.535A>C
c.1822A>C
n.37A>C
c.2795A>C (p.Asn932Thr)
c.2330A>C (p.Asn777Thr)
18g.23539863T>ACA401792742NPC1c.2743A>T (p.Asn915Tyr)
n.2657A>T
n.534A>T
c.1821A>T
n.36A>T
c.2794A>T (p.Asn932Tyr)
c.2329A>T (p.Asn777Tyr)
18g.23539863T>CCA401792743NPC1c.2743A>G (p.Asn915Asp)
n.2657A>G
n.534A>G
c.1821A>G
n.36A>G
c.2794A>G (p.Asn932Asp)
c.2329A>G (p.Asn777Asp)
18g.23539863T>GCA401792744NPC1c.2743A>C (p.Asn915His)
n.2657A>C
n.534A>C
c.1821A>C
n.36A>C
c.2794A>C (p.Asn932His)
c.2329A>C (p.Asn777His)
18g.23539864G>ACA503322619NPC1c.2742C>T (p.Cys914=)
n.2656C>T
n.533C>T
c.1820C>T
n.35C>T
c.2793C>T (p.Cys931=)
c.2328C>T (p.Cys776=)
18g.23539864G>CCA401792745NPC1c.2742C>G (p.Cys914Trp)
n.2656C>G
n.533C>G
c.1820C>G
n.35C>G
c.2793C>G (p.Cys931Trp)
c.2328C>G (p.Cys776Trp)
18g.23539864G=CA2290165929NPC1c.2742C= (p.Cys914=)
n.2656C=
n.533C=
c.1820C=
n.35C=
c.2793C= (p.Cys931=)
c.2328C= (p.Cys776=)
18g.23539864G>TCA401792746NPC1c.2742C>A (p.Cys914Ter)
n.2656C>A
n.533C>A
c.1820C>A
n.35C>A
c.2793C>A (p.Cys931Ter)
c.2328C>A (p.Cys776Ter)
 ClinVar dbSNP
18g.23539865C>ACA401792747NPC1c.2741G>T (p.Cys914Phe)
n.2655G>T
n.532G>T
c.1819G>T
n.34G>T
c.2792G>T (p.Cys931Phe)
c.2327G>T (p.Cys776Phe)
18g.23539865C>GCA401792749NPC1c.2741G>C (p.Cys914Ser)
n.2655G>C
n.532G>C
c.1819G>C
n.34G>C
c.2792G>C (p.Cys931Ser)
c.2327G>C (p.Cys776Ser)
18g.23539865C>TCA401792748NPC1c.2741G>A (p.Cys914Tyr)
n.2655G>A
n.532G>A
c.1819G>A
n.34G>A
c.2792G>A (p.Cys931Tyr)
c.2327G>A (p.Cys776Tyr)
18g.23539866A>CCA401792750NPC1c.2740T>G (p.Cys914Gly)
n.2654T>G
n.531T>G
c.1818T>G
n.33T>G
c.2791T>G (p.Cys931Gly)
c.2326T>G (p.Cys776Gly)
18g.23539866A>GCA401792751NPC1c.2740T>C (p.Cys914Arg)
n.2654T>C
n.531T>C
c.1818T>C
n.33T>C
c.2791T>C (p.Cys931Arg)
c.2326T>C (p.Cys776Arg)
18g.23539866A>TCA401792752NPC1c.2740T>A (p.Cys914Ser)
n.2654T>A
n.531T>A
c.1818T>A
n.33T>A
c.2791T>A (p.Cys931Ser)
c.2326T>A (p.Cys776Ser)
 ClinVar
18g.23539867G>ACA503322620NPC1c.2739C>T (p.Gly913=)
n.2653C>T
n.530C>T
c.1817C>T
n.32C>T
c.2790C>T (p.Gly930=)
c.2325C>T (p.Gly775=)
18g.23539867G>CCA503322621NPC1c.2739C>G (p.Gly913=)
n.2653C>G
n.530C>G
c.1817C>G
n.32C>G
c.2790C>G (p.Gly930=)
c.2325C>G (p.Gly775=)
18g.23539867G=CA2290165930NPC1c.2739C= (p.Gly913=)
n.2653C=
n.530C=
c.1817C=
n.32C=
c.2790C= (p.Gly930=)
c.2325C= (p.Gly775=)
18g.23539867G>TCA503322622NPC1c.2739C>A (p.Gly913=)
n.2653C>A
n.530C>A
c.1817C>A
n.32C>A
c.2790C>A (p.Gly930=)
c.2325C>A (p.Gly775=)
 ClinVar dbSNP gnomAD v4
18g.23539868C>ACA401792753NPC1c.2738G>T (p.Gly913Val)
n.2652G>T
n.529G>T
c.1816G>T
n.31G>T
c.2789G>T (p.Gly930Val)
c.2324G>T (p.Gly775Val)
18g.23539868C>GCA401792754NPC1c.2738G>C (p.Gly913Ala)
n.2652G>C
n.529G>C
c.1816G>C
n.31G>C
c.2789G>C (p.Gly930Ala)
c.2324G>C (p.Gly775Ala)
18g.23539868C>TCA401792755NPC1c.2738G>A (p.Gly913Asp)
n.2652G>A
n.529G>A
c.1816G>A
n.31G>A
c.2789G>A (p.Gly930Asp)
c.2324G>A (p.Gly775Asp)
18g.23539869C>ACA401792756NPC1c.2737G>T (p.Gly913Cys)
n.2651G>T
n.528G>T
c.1815G>T
n.30G>T
c.2788G>T (p.Gly930Cys)
c.2323G>T (p.Gly775Cys)
18g.23539869C>GCA401792757NPC1c.2737G>C (p.Gly913Arg)
n.2651G>C
n.528G>C
c.1815G>C
n.30G>C
c.2788G>C (p.Gly930Arg)
c.2323G>C (p.Gly775Arg)
18g.23539869C>TCA401792758NPC1c.2737G>A (p.Gly913Ser)
n.2651G>A
n.528G>A
c.1815G>A
n.30G>A
c.2788G>A (p.Gly930Ser)
c.2323G>A (p.Gly775Ser)
18g.23539870C>ACA401792759NPC1c.2736G>T (p.Met912Ile)
n.2650G>T
n.527G>T
c.1814G>T
n.29G>T
c.2787G>T (p.Met929Ile)
c.2322G>T (p.Met774Ile)
18g.23539870C>GCA401792760NPC1c.2736G>C (p.Met912Ile)
n.2650G>C
n.527G>C
c.1814G>C
n.29G>C
c.2787G>C (p.Met929Ile)
c.2322G>C (p.Met774Ile)
18g.23539870C>TCA401792761NPC1c.2736G>A (p.Met912Ile)
n.2650G>A
n.527G>A
c.1814G>A
n.29G>A
c.2787G>A (p.Met929Ile)
c.2322G>A (p.Met774Ile)
18g.23539871A=CA2290165931NPC1c.2735T= (p.Met912=)
n.2649T=
n.526T=
c.1813T=
n.28T=
c.2786T= (p.Met929=)
c.2321T= (p.Met774=)
18g.23539871A>CCA401792763NPC1c.2735T>G (p.Met912Arg)
n.2649T>G
n.526T>G
c.1813T>G
n.28T>G
c.2786T>G (p.Met929Arg)
c.2321T>G (p.Met774Arg)
18g.23539871A>GCA8912986NPC1c.2735T>C (p.Met912Thr)
n.2649T>C
n.526T>C
c.1813T>C
n.28T>C
c.2786T>C (p.Met929Thr)
c.2321T>C (p.Met774Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23539871A>TCA401792762NPC1c.2735T>A (p.Met912Lys)
n.2649T>A
n.526T>A
c.1813T>A
n.28T>A
c.2786T>A (p.Met929Lys)
c.2321T>A (p.Met774Lys)
18g.23539872T>ACA401792764NPC1c.2734A>T (p.Met912Leu)
n.2648A>T
n.525A>T
c.1812A>T
n.27A>T
c.2785A>T (p.Met929Leu)
c.2320A>T (p.Met774Leu)
18g.23539872T>CCA8912988NPC1c.2734A>G (p.Met912Val)
n.2648A>G
n.525A>G
c.1812A>G
n.27A>G
c.2785A>G (p.Met929Val)
c.2320A>G (p.Met774Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.23539872T>GCA8912987NPC1c.2734A>C (p.Met912Leu)
n.2648A>C
n.525A>C
c.1812A>C
n.27A>C
c.2785A>C (p.Met929Leu)
c.2320A>C (p.Met774Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23539872T=CA2290165932NPC1c.2734A= (p.Met912=)
n.2648A=
n.525A=
c.1812A=
n.27A=
c.2785A= (p.Met929=)
c.2320A= (p.Met774=)
18g.23539873G>ACA503322624NPC1c.2733C>T (p.Gly911=)
n.2647C>T
n.524C>T
c.1811C>T
n.26C>T
c.2784C>T (p.Gly928=)
c.2319C>T (p.Gly773=)
18g.23539873G>CCA503322625NPC1c.2733C>G (p.Gly911=)
n.2647C>G
n.524C>G
c.1811C>G
n.26C>G
c.2784C>G (p.Gly928=)
c.2319C>G (p.Gly773=)
18g.23539873G>TCA503322623NPC1c.2733C>A (p.Gly911=)
n.2647C>A
n.524C>A
c.1811C>A
n.26C>A
c.2784C>A (p.Gly928=)
c.2319C>A (p.Gly773=)
18g.23539874C>ACA401792765NPC1c.2732G>T (p.Gly911Val)
n.2646G>T
n.523G>T
c.1810G>T
n.25G>T
c.2783G>T (p.Gly928Val)
c.2318G>T (p.Gly773Val)
18g.23539874C>GCA401792766NPC1c.2732G>C (p.Gly911Ala)
n.2646G>C
n.523G>C
c.1810G>C
n.25G>C
c.2783G>C (p.Gly928Ala)
c.2318G>C (p.Gly773Ala)
18g.23539874C>TCA401792767NPC1c.2732G>A (p.Gly911Asp)
n.2646G>A
n.523G>A
c.1810G>A
n.25G>A
c.2783G>A (p.Gly928Asp)
c.2318G>A (p.Gly773Asp)
18g.23539875C>ACA401792768NPC1c.2731G>T (p.Gly911Cys)
n.2645G>T
n.522G>T
c.1809G>T
n.24G>T
c.2782G>T (p.Gly928Cys)
c.2317G>T (p.Gly773Cys)
18g.23539875C=CA2290165933NPC1c.2731G= (p.Gly911=)
n.2645G=
n.522G=
c.1809G=
n.24G=
c.2782G= (p.Gly928=)
c.2317G= (p.Gly773=)
18g.23539875C>GCA401792769NPC1c.2731G>C (p.Gly911Arg)
n.2645G>C
n.522G>C
c.1809G>C
n.24G>C
c.2782G>C (p.Gly928Arg)
c.2317G>C (p.Gly773Arg)
18g.23539875C>TCA297005NPC1c.2731G>A (p.Gly911Ser)
n.2645G>A
n.522G>A
c.1809G>A
n.24G>A
c.2782G>A (p.Gly928Ser)
c.2317G>A (p.Gly773Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
18g.23539876delCA2811805047NPC1c.2730del (p.Gly911AlafsTer25)
n.2644del
n.521del
c.1808del
n.23del
c.2781del (p.Gly928AlafsTer25)
c.2316del (p.Gly773AlafsTer25)
18g.23539876G>ACA8912989NPC1c.2730C>T (p.Gly910=)
n.2644C>T
n.521C>T
c.1808C>T
n.23C>T
c.2781C>T (p.Gly927=)
c.2316C>T (p.Gly772=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
18g.23539876G>CCA503322627NPC1c.2730C>G (p.Gly910=)
n.2644C>G
n.521C>G
c.1808C>G
n.23C>G
c.2781C>G (p.Gly927=)
c.2316C>G (p.Gly772=)
18g.23539876G=CA2290165934NPC1c.2730C= (p.Gly910=)
n.2644C=
n.521C=
c.1808C=
n.23C=
c.2781C= (p.Gly927=)
c.2316C= (p.Gly772=)
18g.23539876G>TCA503322626NPC1c.2730C>A (p.Gly910=)
n.2644C>A
n.521C>A
c.1808C>A
n.23C>A
c.2781C>A (p.Gly927=)
c.2316C>A (p.Gly772=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23539877C>ACA401792770NPC1c.2729G>T (p.Gly910Val)
n.2643G>T
n.520G>T
c.1807G>T
n.22G>T
c.2780G>T (p.Gly927Val)
c.2315G>T (p.Gly772Val)
18g.23539877C>GCA401792771NPC1c.2729G>C (p.Gly910Ala)
n.2643G>C
n.520G>C
c.1807G>C
n.22G>C
c.2780G>C (p.Gly927Ala)
c.2315G>C (p.Gly772Ala)
18g.23539877C>TCA401792772NPC1c.2729G>A (p.Gly910Asp)
n.2643G>A
n.520G>A
c.1807G>A
n.22G>A
c.2780G>A (p.Gly927Asp)
c.2315G>A (p.Gly772Asp)
18g.23539878C>ACA401792773NPC1c.2728G>T (p.Gly910Cys)
n.2642G>T
n.519G>T
c.1806G>T
n.21G>T
c.2779G>T (p.Gly927Cys)
c.2314G>T (p.Gly772Cys)
18g.23539878C=CA2290165935NPC1c.2728G= (p.Gly910=)
n.2642G=
n.519G=
c.1806G=
n.21G=
c.2779G= (p.Gly927=)
c.2314G= (p.Gly772=)
18g.23539878C>GCA401792774NPC1c.2728G>C (p.Gly910Arg)
n.2642G>C
n.519G>C
c.1806G>C
n.21G>C
c.2779G>C (p.Gly927Arg)
c.2314G>C (p.Gly772Arg)
18g.23539878C>TCA8912990NPC1c.2728G>A (p.Gly910Ser)
n.2642G>A
n.519G>A
c.1806G>A
n.21G>A
c.2779G>A (p.Gly927Ser)
c.2314G>A (p.Gly772Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.23539879delCA2811805053NPC1c.2727del (p.Cys909TrpfsTer27)
n.2641del
n.518del
c.1805del
n.20del
c.2778del (p.Cys926TrpfsTer27)
c.2313del (p.Cys771TrpfsTer27)
18g.23539879G>ACA8912991NPC1c.2727C>T (p.Cys909=)
n.2641C>T
n.518C>T
c.1805C>T
n.20C>T
c.2778C>T (p.Cys926=)
c.2313C>T (p.Cys771=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
18g.23539879G>CCA401792775NPC1c.2727C>G (p.Cys909Trp)
n.2641C>G
n.518C>G
c.1805C>G
n.20C>G
c.2778C>G (p.Cys926Trp)
c.2313C>G (p.Cys771Trp)
18g.23539879G=CA2290165936NPC1c.2727C= (p.Cys909=)
n.2641C=
n.518C=
c.1805C=
n.20C=
c.2778C= (p.Cys926=)
c.2313C= (p.Cys771=)
18g.23539879G>TCA401792776NPC1c.2727C>A (p.Cys909Ter)
n.2641C>A
n.518C>A
c.1805C>A
n.20C>A
c.2778C>A (p.Cys926Ter)
c.2313C>A (p.Cys771Ter)
18g.23539880C>ACA401792777NPC1c.2726G>T (p.Cys909Phe)
n.2640G>T
n.517G>T
c.1804G>T
n.19G>T
c.2777G>T (p.Cys926Phe)
c.2312G>T (p.Cys771Phe)
18g.23539880C>GCA401792778NPC1c.2726G>C (p.Cys909Ser)
n.2640G>C
n.517G>C
c.1804G>C
n.19G>C
c.2777G>C (p.Cys926Ser)
c.2312G>C (p.Cys771Ser)
18g.23539880C>TCA401792779NPC1c.2726G>A (p.Cys909Tyr)
n.2640G>A
n.517G>A
c.1804G>A
n.19G>A
c.2777G>A (p.Cys926Tyr)
c.2312G>A (p.Cys771Tyr)
18g.23539881A>CCA401792782NPC1c.2725T>G (p.Cys909Gly)
n.2639T>G
n.516T>G
c.1803T>G
n.18T>G
c.2776T>G (p.Cys926Gly)
c.2311T>G (p.Cys771Gly)
18g.23539881A>GCA401792781NPC1c.2725T>C (p.Cys909Arg)
n.2639T>C
n.516T>C
c.1803T>C
n.18T>C
c.2776T>C (p.Cys926Arg)
c.2311T>C (p.Cys771Arg)
 gnomAD v4
18g.23539881A>TCA401792780NPC1c.2725T>A (p.Cys909Ser)
n.2639T>A
n.516T>A
c.1803T>A
n.18T>A
c.2776T>A (p.Cys926Ser)
c.2311T>A (p.Cys771Ser)
18g.23539882C>ACA503322628NPC1c.2724G>T (p.Val908=)
n.2638G>T
n.515G>T
c.1802G>T
n.17G>T
c.2775G>T (p.Val925=)
c.2310G>T (p.Val770=)
18g.23539882C>GCA503322629NPC1c.2724G>C (p.Val908=)
n.2638G>C
n.515G>C
c.1802G>C
n.17G>C
c.2775G>C (p.Val925=)
c.2310G>C (p.Val770=)
18g.23539882C>TCA503322630NPC1c.2724G>A (p.Val908=)
n.2638G>A
n.515G>A
c.1802G>A
n.17G>A
c.2775G>A (p.Val925=)
c.2310G>A (p.Val770=)
 gnomAD v4
18g.23539883A=CA2290165937NPC1c.2723T= (p.Val908=)
n.2637T=
n.514T=
c.1801T=
n.16T=
c.2774T= (p.Val925=)
c.2309T= (p.Val770=)
18g.23539883A>CCA401792783NPC1c.2723T>G (p.Val908Gly)
n.2637T>G
n.514T>G
c.1801T>G
n.16T>G
c.2774T>G (p.Val925Gly)
c.2309T>G (p.Val770Gly)
18g.23539883A>GCA401792784NPC1c.2723T>C (p.Val908Ala)
n.2637T>C
n.514T>C
c.1801T>C
n.16T>C
c.2774T>C (p.Val925Ala)
c.2309T>C (p.Val770Ala)
 dbSNP gnomAD v2
18g.23539883A>TCA401792785NPC1c.2723T>A (p.Val908Glu)
n.2637T>A
n.514T>A
c.1801T>A
n.16T>A
c.2774T>A (p.Val925Glu)
c.2309T>A (p.Val770Glu)
18g.23539884C>ACA401792786NPC1c.2722G>T (p.Val908Leu)
n.2636G>T
n.513G>T
c.1800G>T
n.15G>T
c.2773G>T (p.Val925Leu)
c.2308G>T (p.Val770Leu)
 dbSNP gnomAD v2 gnomAD v4
18g.23539884C=CA2290165938NPC1c.2722G= (p.Val908=)
n.2636G=
n.513G=
c.1800G=
n.15G=
c.2773G= (p.Val925=)
c.2308G= (p.Val770=)
18g.23539884C>GCA401792787NPC1c.2722G>C (p.Val908Leu)
n.2636G>C
n.513G>C
c.1800G>C
n.15G>C
c.2773G>C (p.Val925Leu)
c.2308G>C (p.Val770Leu)
18g.23539884C>TCA401792788NPC1c.2722G>A (p.Val908Met)
n.2636G>A
n.513G>A
c.1800G>A
n.15G>A
c.2773G>A (p.Val925Met)
c.2308G>A (p.Val770Met)
18g.23539885C>ACA401792789NPC1c.2721G>T (p.Met907Ile)
n.2635G>T
n.512G>T
c.1799G>T
n.14G>T
c.2772G>T (p.Met924Ile)
c.2307G>T (p.Met769Ile)
18g.23539885C>GCA401792791NPC1c.2721G>C (p.Met907Ile)
n.2635G>C
n.512G>C
c.1799G>C
n.14G>C
c.2772G>C (p.Met924Ile)
c.2307G>C (p.Met769Ile)
 gnomAD v4
18g.23539885C>TCA401792790NPC1c.2721G>A (p.Met907Ile)
n.2635G>A
n.512G>A
c.1799G>A
n.14G>A
c.2772G>A (p.Met924Ile)
c.2307G>A (p.Met769Ile)
18g.23539886A>CCA401792792NPC1c.2720T>G (p.Met907Arg)
n.2634T>G
n.511T>G
c.1798T>G
n.13T>G
c.2771T>G (p.Met924Arg)
c.2306T>G (p.Met769Arg)
18g.23539886A>GCA401792793NPC1c.2720T>C (p.Met907Thr)
n.2634T>C
n.511T>C
c.1798T>C
n.13T>C
c.2771T>C (p.Met924Thr)
c.2306T>C (p.Met769Thr)
18g.23539886A>TCA401792794NPC1c.2720T>A (p.Met907Lys)
n.2634T>A
n.511T>A
c.1798T>A
n.13T>A
c.2771T>A (p.Met924Lys)
c.2306T>A (p.Met769Lys)
18g.23539887delCA2580095526NPC1c.2719del (p.Met907TrpfsTer29)
n.2633del
n.510del
c.1797del
n.12del
c.2770del (p.Met924TrpfsTer29)
c.2305del (p.Met769TrpfsTer29)
 ClinVar
18g.23539887T>ACA401792795NPC1c.2719A>T (p.Met907Leu)
n.2633A>T
n.510A>T
c.1797A>T
n.12A>T
c.2770A>T (p.Met924Leu)
c.2305A>T (p.Met769Leu)
18g.23539887T>CCA8912992NPC1c.2719A>G (p.Met907Val)
n.2633A>G
n.510A>G
c.1797A>G
n.12A>G
c.2770A>G (p.Met924Val)
c.2305A>G (p.Met769Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23539887T>GCA401792796NPC1c.2719A>C (p.Met907Leu)
n.2633A>C
n.510A>C
c.1797A>C
n.12A>C
c.2770A>C (p.Met924Leu)
c.2305A>C (p.Met769Leu)
 gnomAD v4
18g.23539887T=CA2290165939NPC1c.2719A= (p.Met907=)
n.2633A=
n.510A=
c.1797A=
n.12A=
c.2770A= (p.Met924=)
c.2305A= (p.Met769=)
18g.23539888G>ACA503322631NPC1c.2718C>T (p.Asn906=)
n.2632C>T
n.509C>T
c.1796C>T
n.11C>T
c.2769C>T (p.Asn923=)
c.2304C>T (p.Asn768=)
18g.23539888G>CCA401792797NPC1c.2718C>G (p.Asn906Lys)
n.2632C>G
n.509C>G
c.1796C>G
n.11C>G
c.2769C>G (p.Asn923Lys)
c.2304C>G (p.Asn768Lys)
18g.23539888G>TCA401792798NPC1c.2718C>A (p.Asn906Lys)
n.2632C>A
n.509C>A
c.1796C>A
n.11C>A
c.2769C>A (p.Asn923Lys)
c.2304C>A (p.Asn768Lys)
18g.23539889T>ACA401792799NPC1c.2717A>T (p.Asn906Ile)
n.2631A>T
n.508A>T
c.1795A>T
n.10A>T
c.2768A>T (p.Asn923Ile)
c.2303A>T (p.Asn768Ile)
18g.23539889T>CCA401792800NPC1c.2717A>G (p.Asn906Ser)
n.2631A>G
n.508A>G
c.1795A>G
n.10A>G
c.2768A>G (p.Asn923Ser)
c.2303A>G (p.Asn768Ser)
18g.23539889T>GCA401792801NPC1c.2717A>C (p.Asn906Thr)
n.2631A>C
n.508A>C
c.1795A>C
n.10A>C
c.2768A>C (p.Asn923Thr)
c.2303A>C (p.Asn768Thr)
18g.23539890T>ACA401792804NPC1c.2716A>T (p.Asn906Tyr)
n.2630A>T
n.507A>T
c.1794A>T
n.9A>T
c.2767A>T (p.Asn923Tyr)
c.2302A>T (p.Asn768Tyr)
18g.23539890T>CCA401792803NPC1c.2716A>G (p.Asn906Asp)
n.2630A>G
n.507A>G
c.1794A>G
n.9A>G
c.2767A>G (p.Asn923Asp)
c.2302A>G (p.Asn768Asp)
 gnomAD v4
18g.23539890T>GCA401792802NPC1c.2716A>C (p.Asn906His)
n.2630A>C
n.507A>C
c.1794A>C
n.9A>C
c.2767A>C (p.Asn923His)
c.2302A>C (p.Asn768His)
18g.23539891C>ACA401792806NPC1c.2715G>T (p.Gln905His)
n.2629G>T
n.506G>T
c.1793G>T
n.8G>T
c.2766G>T (p.Gln922His)
c.2301G>T (p.Gln767His)
18g.23539891C>GCA401792805NPC1c.2715G>C (p.Gln905His)
n.2629G>C
n.506G>C
c.1793G>C
n.8G>C
c.2766G>C (p.Gln922His)
c.2301G>C (p.Gln767His)
18g.23539891C>TCA503322632NPC1c.2715G>A (p.Gln905=)
n.2629G>A
n.506G>A
c.1793G>A
n.8G>A
c.2766G>A (p.Gln922=)
c.2301G>A (p.Gln767=)
 ClinVar gnomAD v4
18g.23539892T>ACA401792807NPC1c.2714A>T (p.Gln905Leu)
n.2628A>T
n.505A>T
c.1792A>T
n.7A>T
c.2765A>T (p.Gln922Leu)
c.2300A>T (p.Gln767Leu)
18g.23539892T>CCA401792808NPC1c.2714A>G (p.Gln905Arg)
n.2628A>G
n.505A>G
c.1792A>G
n.7A>G
c.2765A>G (p.Gln922Arg)
c.2300A>G (p.Gln767Arg)
 dbSNP gnomAD v3 gnomAD v4
18g.23539892T>GCA401792809NPC1c.2714A>C (p.Gln905Pro)
n.2628A>C
n.505A>C
c.1792A>C
n.7A>C
c.2765A>C (p.Gln922Pro)
c.2300A>C (p.Gln767Pro)
18g.23539892T=CA2290165940NPC1c.2714A= (p.Gln905=)
n.2628A=
n.505A=
c.1792A=
n.7A=
c.2765A= (p.Gln922=)
c.2300A= (p.Gln767=)
18g.23539893G>ACA16616710NPC1c.2713C>T (p.Gln905Ter)
n.2627C>T
n.504C>T
c.1791C>T
n.6C>T
c.2764C>T (p.Gln922Ter)
c.2299C>T (p.Gln767Ter)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
18g.23539893G>CCA401792810NPC1c.2713C>G (p.Gln905Glu)
n.2627C>G
n.504C>G
c.1791C>G
n.6C>G
c.2764C>G (p.Gln922Glu)
c.2299C>G (p.Gln767Glu)
18g.23539893G=CA2290165941NPC1c.2713C= (p.Gln905=)
n.2627C=
n.504C=
c.1791C=
n.6C=
c.2764C= (p.Gln922=)
c.2299C= (p.Gln767=)
18g.23539893G>TCA401792811NPC1c.2713C>A (p.Gln905Lys)
n.2627C>A
n.504C>A
c.1791C>A
n.6C>A
c.2764C>A (p.Gln922Lys)
c.2299C>A (p.Gln767Lys)
18g.23539893_23539894delCA913014994NPC1c.2712_2713del (p.Gln905GlufsTer12)
n.2626_2627del
n.503_504del
c.1790_1791del
n.5_6del
c.2763_2764del (p.Gln922GlufsTer12)
c.2298_2299del (p.Gln767GlufsTer12)
18g.23539893_23539894delinsGCCA2290165942NPC1c.2712_2713delinsGC (p.Gly904=)
n.2626_2627delinsGC
n.503_504delinsGC
c.1790_1791delinsGC
n.5_6delinsGC
c.2763_2764delinsGC (p.Gly921=)
c.2298_2299delinsGC (p.Gly766=)
18g.23539894C>ACA8912993NPC1c.2712G>T (p.Gly904=)
n.2626G>T
n.503G>T
c.1790G>T
n.5G>T
c.2763G>T (p.Gly921=)
c.2298G>T (p.Gly766=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23539894C=CA2290165943NPC1c.2712G= (p.Gly904=)
n.2626G=
n.503G=
c.1790G=
n.5G=
c.2763G= (p.Gly921=)
c.2298G= (p.Gly766=)
18g.23539894C>GCA503322634NPC1c.2712G>C (p.Gly904=)
n.2626G>C
n.503G>C
c.1790G>C
n.5G>C
c.2763G>C (p.Gly921=)
c.2298G>C (p.Gly766=)
18g.23539894C>TCA503322633NPC1c.2712G>A (p.Gly904=)
n.2626G>A
n.503G>A
c.1790G>A
n.5G>A
c.2763G>A (p.Gly921=)
c.2298G>A (p.Gly766=)
18g.23539897delCA658824816NPC1c.2712del (p.Gln905ArgfsTer?)
n.2626del
n.503del
c.1790del
n.5del
c.2763del (p.Gln922ArgfsTer?)
c.2298del (p.Gln767ArgfsTer?)
 ClinVar dbSNP
18g.23539895C>ACA401792812NPC1c.2711G>T (p.Gly904Val)
n.2625G>T
n.502G>T
c.1789G>T
n.4G>T
c.2762G>T (p.Gly921Val)
c.2297G>T (p.Gly766Val)
18g.23539895C>GCA401792813NPC1c.2711G>C (p.Gly904Ala)
n.2625G>C
n.502G>C
c.1789G>C
n.4G>C
c.2762G>C (p.Gly921Ala)
c.2297G>C (p.Gly766Ala)
18g.23539895C>TCA401792814NPC1c.2711G>A (p.Gly904Glu)
n.2625G>A
n.502G>A
c.1789G>A
n.4G>A
c.2762G>A (p.Gly921Glu)
c.2297G>A (p.Gly766Glu)
 gnomAD v4
18g.23539896C>ACA401792815NPC1c.2710G>T (p.Gly904Trp)
n.2624G>T
n.501G>T
c.1788G>T
n.3G>T
c.2761G>T (p.Gly921Trp)
c.2296G>T (p.Gly766Trp)
18g.23539896C=CA2290165944NPC1c.2710G= (p.Gly904=)
n.2624G=
n.501G=
c.1788G=
n.3G=
c.2761G= (p.Gly921=)
c.2296G= (p.Gly766=)
18g.23539896C>GCA401792816NPC1c.2710G>C (p.Gly904Arg)
n.2624G>C
n.501G>C
c.1788G>C
n.3G>C
c.2761G>C (p.Gly921Arg)
c.2296G>C (p.Gly766Arg)
18g.23539896C>TCA8912994NPC1c.2710G>A (p.Gly904Arg)
n.2624G>A
n.501G>A
c.1788G>A
n.3G>A
c.2761G>A (p.Gly921Arg)
c.2296G>A (p.Gly766Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
18g.23539897C>ACA401792817NPC1c.2709G>T (p.Lys903Asn)
n.2623G>T
n.500G>T
c.1787G>T
n.2G>T
c.2760G>T (p.Lys920Asn)
c.2295G>T (p.Lys765Asn)
18g.23539897C=CA2290165945NPC1c.2709G= (p.Lys903=)
n.2623G=
n.500G=
c.1787G=
n.2G=
c.2760G= (p.Lys920=)
c.2295G= (p.Lys765=)
18g.23539897C>GCA401792818NPC1c.2709G>C (p.Lys903Asn)
n.2623G>C
n.500G>C
c.1787G>C
n.2G>C
c.2760G>C (p.Lys920Asn)
c.2295G>C (p.Lys765Asn)
18g.23539897C>TCA8912995NPC1c.2709G>A (p.Lys903=)
n.2623G>A
n.500G>A
c.1787G>A
n.2G>A
c.2760G>A (p.Lys920=)
c.2295G>A (p.Lys765=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.23539898T>ACA401792819NPC1c.2708A>T (p.Lys903Met)
n.2622A>T
n.499A>T
c.1786A>T
n.1A>T
c.2759A>T (p.Lys920Met)
c.2294A>T (p.Lys765Met)
18g.23539898T>CCA401792820NPC1c.2708A>G (p.Lys903Arg)
n.2622A>G
n.499A>G
c.1786A>G
n.1A>G
c.2759A>G (p.Lys920Arg)
c.2294A>G (p.Lys765Arg)
18g.23539898T>GCA401792821NPC1c.2708A>C (p.Lys903Thr)
n.2622A>C
n.499A>C
c.1786A>C
n.1A>C
c.2759A>C (p.Lys920Thr)
c.2294A>C (p.Lys765Thr)
18g.23539899T>ACA401792822NPC1c.2707A>T (p.Lys903Ter)
n.2621A>T
n.498A>T
c.1785A>T
c.2758A>T (p.Lys920Ter)
c.2293A>T (p.Lys765Ter)
18g.23539899T>CCA401792823NPC1c.2707A>G (p.Lys903Glu)
n.2621A>G
n.498A>G
c.1785A>G
c.2758A>G (p.Lys920Glu)
c.2293A>G (p.Lys765Glu)
18g.23539899T>GCA401792824NPC1c.2707A>C (p.Lys903Gln)
n.2621A>C
n.498A>C
c.1785A>C
c.2758A>C (p.Lys920Gln)
c.2293A>C (p.Lys765Gln)
18g.23539900G>ACA503322635NPC1c.2706C>T (p.Ser902=)
n.2620C>T
n.497C>T
c.1784C>T
c.2757C>T (p.Ser919=)
c.2292C>T (p.Ser764=)
 ClinVar dbSNP gnomAD v4
18g.23539900G>CCA503322636NPC1c.2706C>G (p.Ser902=)
n.2620C>G
n.497C>G
c.1784C>G
c.2757C>G (p.Ser919=)
c.2292C>G (p.Ser764=)
18g.23539900G=CA2290165946NPC1c.2706C= (p.Ser902=)
n.2620C=
n.497C=
c.1784C=
c.2757C= (p.Ser919=)
c.2292C= (p.Ser764=)
18g.23539900G>TCA503322637NPC1c.2706C>A (p.Ser902=)
n.2620C>A
n.497C>A
c.1784C>A
c.2757C>A (p.Ser919=)
c.2292C>A (p.Ser764=)
18g.23539901G>ACA401792825NPC1c.2705C>T (p.Ser902Phe)
n.2619C>T
n.496C>T
c.1783C>T
c.2756C>T (p.Ser919Phe)
c.2291C>T (p.Ser764Phe)
18g.23539901G>CCA8912996NPC1c.2705C>G (p.Ser902Cys)
n.2619C>G
n.496C>G
c.1783C>G
c.2756C>G (p.Ser919Cys)
c.2291C>G (p.Ser764Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23539901G=CA2290165947NPC1c.2705C= (p.Ser902=)
n.2619C=
n.496C=
c.1783C=
c.2756C= (p.Ser919=)
c.2291C= (p.Ser764=)
18g.23539901G>TCA401792826NPC1c.2705C>A (p.Ser902Tyr)
n.2619C>A
n.496C>A
c.1783C>A
c.2756C>A (p.Ser919Tyr)
c.2291C>A (p.Ser764Tyr)
18g.23539902A>CCA401792827NPC1c.2704T>G (p.Ser902Ala)
n.2618T>G
n.495T>G
c.1782T>G
c.2755T>G (p.Ser919Ala)
c.2290T>G (p.Ser764Ala)
18g.23539902A>GCA401792828NPC1c.2704T>C (p.Ser902Pro)
n.2618T>C
n.495T>C
c.1782T>C
c.2755T>C (p.Ser919Pro)
c.2290T>C (p.Ser764Pro)
18g.23539902A>TCA401792829NPC1c.2704T>A (p.Ser902Thr)
n.2618T>A
n.495T>A
c.1782T>A
c.2755T>A (p.Ser919Thr)
c.2290T>A (p.Ser764Thr)
18g.23539903A>CCA503322638NPC1c.2703T>G (p.Ser901=)
n.2617T>G
n.494T>G
c.1781T>G
c.2754T>G (p.Ser918=)
c.2289T>G (p.Ser763=)
18g.23539903A>GCA503322639NPC1c.2703T>C (p.Ser901=)
n.2617T>C
n.494T>C
c.1781T>C
c.2754T>C (p.Ser918=)
c.2289T>C (p.Ser763=)
 ClinVar dbSNP
18g.23539903A>TCA503322640NPC1c.2703T>A (p.Ser901=)
n.2617T>A
n.494T>A
c.1781T>A
c.2754T>A (p.Ser918=)
c.2289T>A (p.Ser763=)
18g.23539904G>ACA401792831NPC1c.2702C>T (p.Ser901Phe)
n.2616C>T
n.493C>T
c.1780C>T
c.2753C>T (p.Ser918Phe)
c.2288C>T (p.Ser763Phe)
18g.23539904G>CCA401792832NPC1c.2702C>G (p.Ser901Cys)
n.2616C>G
n.493C>G
c.1780C>G
c.2753C>G (p.Ser918Cys)
c.2288C>G (p.Ser763Cys)
18g.23539904G>TCA401792830NPC1c.2702C>A (p.Ser901Tyr)
n.2616C>A
n.493C>A
c.1780C>A
c.2753C>A (p.Ser918Tyr)
c.2288C>A (p.Ser763Tyr)
 COSMIC COSMIC
18g.23539905A>CCA401792833NPC1c.2701T>G (p.Ser901Ala)
n.2615T>G
n.492T>G
c.1779T>G
c.2752T>G (p.Ser918Ala)
c.2287T>G (p.Ser763Ala)
18g.23539905A>GCA401792834NPC1c.2701T>C (p.Ser901Pro)
n.2615T>C
n.492T>C
c.1779T>C
c.2752T>C (p.Ser918Pro)
c.2287T>C (p.Ser763Pro)
18g.23539905A>TCA401792835NPC1c.2701T>A (p.Ser901Thr)
n.2615T>A
n.492T>A
c.1779T>A
c.2752T>A (p.Ser918Thr)
c.2287T>A (p.Ser763Thr)
18g.23539906A=CA2290165948NPC1c.2700T= (p.Thr900=)
n.2614T=
n.491T=
c.1778T=
c.2751T= (p.Thr917=)
c.2286T= (p.Thr762=)
18g.23539906A>CCA503322641NPC1c.2700T>G (p.Thr900=)
n.2614T>G
n.491T>G
c.1778T>G
c.2751T>G (p.Thr917=)
c.2286T>G (p.Thr762=)
 gnomAD v4
18g.23539906A>GCA8912997NPC1c.2700T>C (p.Thr900=)
n.2614T>C
n.491T>C
c.1778T>C
c.2751T>C (p.Thr917=)
c.2286T>C (p.Thr762=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.23539906A>TCA503322642NPC1c.2700T>A (p.Thr900=)
n.2614T>A
n.491T>A
c.1778T>A
c.2751T>A (p.Thr917=)
c.2286T>A (p.Thr762=)
18g.23539907G>ACA401792836NPC1c.2699C>T (p.Thr900Ile)
n.2613C>T
n.490C>T
c.1777C>T
c.2750C>T (p.Thr917Ile)
c.2285C>T (p.Thr762Ile)
18g.23539907G>CCA401792837NPC1c.2699C>G (p.Thr900Ser)
n.2613C>G
n.490C>G
c.1777C>G
c.2750C>G (p.Thr917Ser)
c.2285C>G (p.Thr762Ser)
 ClinVar
18g.23539907G>TCA401792838NPC1c.2699C>A (p.Thr900Asn)
n.2613C>A
n.490C>A
c.1777C>A
c.2750C>A (p.Thr917Asn)
c.2285C>A (p.Thr762Asn)
18g.23539908T>ACA401792841NPC1c.2698A>T (p.Thr900Ser)
n.2612A>T
n.489A>T
c.1776A>T
c.2749A>T (p.Thr917Ser)
c.2284A>T (p.Thr762Ser)
18g.23539908T>CCA401792839NPC1c.2698A>G (p.Thr900Ala)
n.2612A>G
n.489A>G
c.1776A>G
c.2749A>G (p.Thr917Ala)
c.2284A>G (p.Thr762Ala)
18g.23539908T>GCA401792840NPC1c.2698A>C (p.Thr900Pro)
n.2612A>C
n.489A>C
c.1776A>C
c.2749A>C (p.Thr917Pro)
c.2284A>C (p.Thr762Pro)
18g.23539909G>ACA503322643NPC1c.2697C>T (p.Tyr899=)
n.2611C>T
n.488C>T
c.1775C>T
c.2748C>T (p.Tyr916=)
c.2283C>T (p.Tyr761=)
18g.23539909G>CCA401792842NPC1c.2697C>G (p.Tyr899Ter)
n.2611C>G
n.488C>G
c.1775C>G
c.2748C>G (p.Tyr916Ter)
c.2283C>G (p.Tyr761Ter)
18g.23539909G>TCA401792843NPC1c.2697C>A (p.Tyr899Ter)
n.2611C>A
n.488C>A
c.1775C>A
c.2748C>A (p.Tyr916Ter)
c.2283C>A (p.Tyr761Ter)
18g.23539910T>ACA401792844NPC1c.2696A>T (p.Tyr899Phe)
n.2610A>T
n.487A>T
c.1774A>T
c.2747A>T (p.Tyr916Phe)
c.2282A>T (p.Tyr761Phe)
18g.23539910T>CCA401792845NPC1c.2696A>G (p.Tyr899Cys)
n.2610A>G
n.487A>G
c.1774A>G
c.2747A>G (p.Tyr916Cys)
c.2282A>G (p.Tyr761Cys)
 gnomAD v4
18g.23539910T>GCA401792846NPC1c.2696A>C (p.Tyr899Ser)
n.2610A>C
n.487A>C
c.1774A>C
c.2747A>C (p.Tyr916Ser)
c.2282A>C (p.Tyr761Ser)
18g.23539911A>CCA401792847NPC1c.2695T>G (p.Tyr899Asp)
n.2609T>G
n.486T>G
c.1773T>G
c.2746T>G (p.Tyr916Asp)
c.2281T>G (p.Tyr761Asp)
18g.23539911A>GCA401792849NPC1c.2695T>C (p.Tyr899His)
n.2609T>C
n.486T>C
c.1773T>C
c.2746T>C (p.Tyr916His)
c.2281T>C (p.Tyr761His)
 ClinVar
18g.23539911A>TCA401792848NPC1c.2695T>A (p.Tyr899Asn)
n.2609T>A
n.486T>A
c.1773T>A
c.2746T>A (p.Tyr916Asn)
c.2281T>A (p.Tyr761Asn)
18g.23539912G>ACA8912998NPC1c.2694C>T (p.Asp898=)
n.2608C>T
n.485C>T
c.1772C>T
c.2745C>T (p.Asp915=)
c.2280C>T (p.Asp760=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.23539912G>CCA401792850NPC1c.2694C>G (p.Asp898Glu)
n.2608C>G
n.485C>G
c.1772C>G
c.2745C>G (p.Asp915Glu)
c.2280C>G (p.Asp760Glu)
18g.23539912G=CA2290165949NPC1c.2694C= (p.Asp898=)
n.2608C=
n.485C=
c.1772C=
c.2745C= (p.Asp915=)
c.2280C= (p.Asp760=)
18g.23539912G>TCA401792851NPC1c.2694C>A (p.Asp898Glu)
n.2608C>A
n.485C>A
c.1772C>A
c.2745C>A (p.Asp915Glu)
c.2280C>A (p.Asp760Glu)
18g.23539913T>ACA401792852NPC1c.2693A>T (p.Asp898Val)
n.2607A>T
n.484A>T
c.1771A>T
c.2744A>T (p.Asp915Val)
c.2279A>T (p.Asp760Val)
18g.23539913T>CCA401792853NPC1c.2693A>G (p.Asp898Gly)
n.2607A>G
n.484A>G
c.1771A>G
c.2744A>G (p.Asp915Gly)
c.2279A>G (p.Asp760Gly)
18g.23539913T>GCA401792854NPC1c.2693A>C (p.Asp898Ala)
n.2607A>C
n.484A>C
c.1771A>C
c.2744A>C (p.Asp915Ala)
c.2279A>C (p.Asp760Ala)
18g.23539914C>ACA401792855NPC1c.2692G>T (p.Asp898Tyr)
n.2606G>T
n.483G>T
c.1770G>T
c.2743G>T (p.Asp915Tyr)
c.2278G>T (p.Asp760Tyr)
 COSMIC COSMIC
18g.23539914C=CA2290165950NPC1c.2692G= (p.Asp898=)
n.2606G=
n.483G=
c.1770G=
c.2743G= (p.Asp915=)
c.2278G= (p.Asp760=)
18g.23539914C>GCA401792856NPC1c.2692G>C (p.Asp898His)
n.2606G>C
n.483G>C
c.1770G>C
c.2743G>C (p.Asp915His)
c.2278G>C (p.Asp760His)
18g.23539914C>TCA8912999NPC1c.2692G>A (p.Asp898Asn)
n.2606G>A
n.483G>A
c.1770G>A
c.2743G>A (p.Asp915Asn)
c.2278G>A (p.Asp760Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23539915G>ACA8913000NPC1c.2691C>T (p.His897=)
n.2605C>T
n.482C>T
c.1769C>T
c.2742C>T (p.His914=)
c.2277C>T (p.His759=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.23539915G>CCA401792857NPC1c.2691C>G (p.His897Gln)
n.2605C>G
n.482C>G
c.1769C>G
c.2742C>G (p.His914Gln)
c.2277C>G (p.His759Gln)
18g.23539915G=CA2290165951NPC1c.2691C= (p.His897=)
n.2605C=
n.482C=
c.1769C=
c.2742C= (p.His914=)
c.2277C= (p.His759=)
18g.23539915G>TCA401792858NPC1c.2691C>A (p.His897Gln)
n.2605C>A
n.482C>A
c.1769C>A
c.2742C>A (p.His914Gln)
c.2277C>A (p.His759Gln)
18g.23539916T>ACA401792859NPC1c.2690A>T (p.His897Leu)
n.2604A>T
n.481A>T
c.1768A>T
c.2741A>T (p.His914Leu)
c.2276A>T (p.His759Leu)
18g.23539916T>CCA401792861NPC1c.2690A>G (p.His897Arg)
n.2604A>G
n.481A>G
c.1768A>G
c.2741A>G (p.His914Arg)
c.2276A>G (p.His759Arg)
18g.23539916T>GCA401792860NPC1c.2690A>C (p.His897Pro)
n.2604A>C
n.481A>C
c.1768A>C
c.2741A>C (p.His914Pro)
c.2276A>C (p.His759Pro)
18g.23539917G>ACA401792862NPC1c.2689C>T (p.His897Tyr)
n.2603C>T
n.480C>T
c.1767C>T
c.2740C>T (p.His914Tyr)
c.2275C>T (p.His759Tyr)
 dbSNP gnomAD v2 gnomAD v4
18g.23539917G>CCA401792863NPC1c.2689C>G (p.His897Asp)
n.2603C>G
n.480C>G
c.1767C>G
c.2740C>G (p.His914Asp)
c.2275C>G (p.His759Asp)
18g.23539917G=CA2290165952NPC1c.2689C= (p.His897=)
n.2603C=
n.480C=
c.1767C=
c.2740C= (p.His914=)
c.2275C= (p.His759=)
18g.23539917G>TCA401792864NPC1c.2689C>A (p.His897Asn)
n.2603C>A
n.480C>A
c.1767C>A
c.2740C>A (p.His914Asn)
c.2275C>A (p.His759Asn)
18g.23539918C>ACA503322646NPC1c.2688G>T (p.Gly896=)
n.2602G>T
n.479G>T
c.1766G>T
c.2739G>T (p.Gly913=)
c.2274G>T (p.Gly758=)
18g.23539918C=CA2290165953NPC1c.2688G= (p.Gly896=)
n.2602G=
n.479G=
c.1766G=
c.2739G= (p.Gly913=)
c.2274G= (p.Gly758=)
18g.23539918C>GCA503322644NPC1c.2688G>C (p.Gly896=)
n.2602G>C
n.479G>C
c.1766G>C
c.2739G>C (p.Gly913=)
c.2274G>C (p.Gly758=)
18g.23539918C>TCA503322645NPC1c.2688G>A (p.Gly896=)
n.2602G>A
n.479G>A
c.1766G>A
c.2739G>A (p.Gly913=)
c.2274G>A (p.Gly758=)
 dbSNP
18g.23539919C>ACA401792865NPC1c.2687G>T (p.Gly896Val)
n.2601G>T
n.478G>T
c.1765G>T
c.2738G>T (p.Gly913Val)
c.2273G>T (p.Gly758Val)
18g.23539919C>GCA401792866NPC1c.2687G>C (p.Gly896Ala)
n.2601G>C
n.478G>C
c.1765G>C
c.2738G>C (p.Gly913Ala)
c.2273G>C (p.Gly758Ala)
18g.23539919C>TCA401792867NPC1c.2687G>A (p.Gly896Glu)
n.2601G>A
n.478G>A
c.1765G>A
c.2738G>A (p.Gly913Glu)
c.2273G>A (p.Gly758Glu)
18g.23539920C>ACA401792870NPC1c.2686G>T (p.Gly896Trp)
n.2600G>T
n.477G>T
c.1764G>T
c.2737G>T (p.Gly913Trp)
c.2272G>T (p.Gly758Trp)
 gnomAD v4
18g.23539920C>GCA401792868NPC1c.2686G>C (p.Gly896Arg)
n.2600G>C
n.477G>C
c.1764G>C
c.2737G>C (p.Gly913Arg)
c.2272G>C (p.Gly758Arg)
18g.23539920C>TCA401792869NPC1c.2686G>A (p.Gly896Arg)
n.2600G>A
n.477G>A
c.1764G>A
c.2737G>A (p.Gly913Arg)
c.2272G>A (p.Gly758Arg)
18g.23539921T>ACA401792871NPC1c.2685A>T (p.Glu895Asp)
n.2599A>T
n.476A>T
c.1763A>T
c.2736A>T (p.Glu912Asp)
c.2271A>T (p.Glu757Asp)
18g.23539921T>CCA503322647NPC1c.2685A>G (p.Glu895=)
n.2599A>G
n.476A>G
c.1763A>G
c.2736A>G (p.Glu912=)
c.2271A>G (p.Glu757=)
 ClinVar dbSNP
18g.23539921T>GCA401792872NPC1c.2685A>C (p.Glu895Asp)
n.2599A>C
n.476A>C
c.1763A>C
c.2736A>C (p.Glu912Asp)
c.2271A>C (p.Glu757Asp)
18g.23539922dupCA913014995NPC1c.2685dup (p.Gly896ArgfsTer22)
n.2599dup
n.476dup
c.1763dup
c.2736dup (p.Gly913ArgfsTer22)
c.2271dup (p.Gly758ArgfsTer22)
18g.23539922T>ACA401792873NPC1c.2684A>T (p.Glu895Val)
n.2598A>T
n.475A>T
c.1762A>T
c.2735A>T (p.Glu912Val)
c.2270A>T (p.Glu757Val)
18g.23539922T>CCA401792874NPC1c.2684A>G (p.Glu895Gly)
n.2598A>G
n.475A>G
c.1762A>G
c.2735A>G (p.Glu912Gly)
c.2270A>G (p.Glu757Gly)
18g.23539922T>GCA401792875NPC1c.2684A>C (p.Glu895Ala)
n.2598A>C
n.475A>C
c.1762A>C
c.2735A>C (p.Glu912Ala)
c.2270A>C (p.Glu757Ala)
18g.23539922T=CA2290165954NPC1c.2684A= (p.Glu895=)
n.2598A=
n.475A=
c.1762A=
c.2735A= (p.Glu912=)
c.2270A= (p.Glu757=)
18g.23539923C>ACA401792876NPC1c.2683G>T (p.Glu895Ter)
n.2597G>T
n.474G>T
c.1761G>T
c.2734G>T (p.Glu912Ter)
c.2269G>T (p.Glu757Ter)
 ClinVar dbSNP
18g.23539923C>GCA401792878NPC1c.2683G>C (p.Glu895Gln)
n.2597G>C
n.474G>C
c.1761G>C
c.2734G>C (p.Glu912Gln)
c.2269G>C (p.Glu757Gln)
18g.23539923C>TCA401792877NPC1c.2683G>A (p.Glu895Lys)
n.2597G>A
n.474G>A
c.1761G>A
c.2734G>A (p.Glu912Lys)
c.2269G>A (p.Glu757Lys)
 ClinVar COSMIC
18g.23539924dupCA658824817NPC1c.2683dup (p.Glu895GlyfsTer23)
n.2597dup
n.474dup
c.1761dup
c.2734dup (p.Glu912GlyfsTer23)
c.2269dup (p.Glu757GlyfsTer23)
 ClinVar dbSNP gnomAD v4
18g.23539923_23539924dupCA2576470635NPC1c.2682_2683dup (p.Glu895GlyfsTer?)
n.2596_2597dup
n.473_474dup
c.1760_1761dup
c.2733_2734dup (p.Glu912GlyfsTer?)
c.2268_2269dup (p.Glu757GlyfsTer?)

Number of alleles fetched