Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.23541314G>ACA401793596NPC1c.2365C>T (p.Arg789Cys)
n.2279C>T
n.59C>T
c.1443C>T
c.2416C>T (p.Arg806Cys)
c.1951C>T (p.Arg651Cys)
 ClinVar dbSNP gnomAD v4
18g.23541314G>CCA401793597NPC1c.2365C>G (p.Arg789Gly)
n.2279C>G
n.59C>G
c.1443C>G
c.2416C>G (p.Arg806Gly)
c.1951C>G (p.Arg651Gly)
 ClinVar dbSNP gnomAD v4
18g.23541314G=CA2290166609NPC1c.2365C= (p.Arg789=)
n.2279C=
n.59C=
c.1443C=
c.2416C= (p.Arg806=)
c.1951C= (p.Arg651=)
18g.23541314G>TCA401793598NPC1c.2365C>A (p.Arg789Ser)
n.2279C>A
n.59C>A
c.1443C>A
c.2416C>A (p.Arg806Ser)
c.1951C>A (p.Arg651Ser)
18g.23541315T>ACA401793599NPC1c.2364A>T (p.Lys788Asn)
n.2278A>T
n.58A>T
c.1442A>T
c.2415A>T (p.Lys805Asn)
c.1950A>T (p.Lys650Asn)
18g.23541315T>CCA503522008NPC1c.2364A>G (p.Lys788=)
n.2278A>G
n.58A>G
c.1442A>G
c.2415A>G (p.Lys805=)
c.1950A>G (p.Lys650=)
18g.23541315T>GCA401793600NPC1c.2364A>C (p.Lys788Asn)
n.2278A>C
n.58A>C
c.1442A>C
c.2415A>C (p.Lys805Asn)
c.1950A>C (p.Lys650Asn)
18g.23541316T>ACA401793603NPC1c.2363A>T (p.Lys788Ile)
n.2277A>T
n.57A>T
c.1441A>T
c.2414A>T (p.Lys805Ile)
c.1949A>T (p.Lys650Ile)
18g.23541316T>CCA401793602NPC1c.2363A>G (p.Lys788Arg)
n.2277A>G
n.57A>G
c.1441A>G
c.2414A>G (p.Lys805Arg)
c.1949A>G (p.Lys650Arg)
18g.23541316T>GCA401793601NPC1c.2363A>C (p.Lys788Thr)
n.2277A>C
n.57A>C
c.1441A>C
c.2414A>C (p.Lys805Thr)
c.1949A>C (p.Lys650Thr)
18g.23541317T>ACA401793604NPC1c.2362A>T (p.Lys788Ter)
n.2276A>T
n.56A>T
c.1440A>T
c.2413A>T (p.Lys805Ter)
c.1948A>T (p.Lys650Ter)
18g.23541317T>CCA401793606NPC1c.2362A>G (p.Lys788Glu)
n.2276A>G
n.56A>G
c.1440A>G
c.2413A>G (p.Lys805Glu)
c.1948A>G (p.Lys650Glu)
 dbSNP gnomAD v3 gnomAD v4
18g.23541317T>GCA401793605NPC1c.2362A>C (p.Lys788Gln)
n.2276A>C
n.56A>C
c.1440A>C
c.2413A>C (p.Lys805Gln)
c.1948A>C (p.Lys650Gln)
18g.23541317T=CA2290166610NPC1c.2362A= (p.Lys788=)
n.2276A=
n.56A=
c.1440A=
c.2413A= (p.Lys805=)
c.1948A= (p.Lys650=)
18g.23541318A>CCA401793607NPC1c.2361T>G (p.Ile787Met)
n.2275T>G
n.55T>G
c.1439T>G
c.2412T>G (p.Ile804Met)
c.1947T>G (p.Ile649Met)
18g.23541318A>GCA503522011NPC1c.2361T>C (p.Ile787=)
n.2275T>C
n.55T>C
c.1439T>C
c.2412T>C (p.Ile804=)
c.1947T>C (p.Ile649=)
 gnomAD v4
18g.23541318A>TCA503522012NPC1c.2361T>A (p.Ile787=)
n.2275T>A
n.55T>A
c.1439T>A
c.2412T>A (p.Ile804=)
c.1947T>A (p.Ile649=)
18g.23541319A>CCA401793610NPC1c.2360T>G (p.Ile787Ser)
n.2274T>G
n.54T>G
c.1438T>G
c.2411T>G (p.Ile804Ser)
c.1946T>G (p.Ile649Ser)
18g.23541319A>GCA401793608NPC1c.2360T>C (p.Ile787Thr)
n.2274T>C
n.54T>C
c.1438T>C
c.2411T>C (p.Ile804Thr)
c.1946T>C (p.Ile649Thr)
 ClinVar
18g.23541319A>TCA401793609NPC1c.2360T>A (p.Ile787Asn)
n.2274T>A
n.54T>A
c.1438T>A
c.2411T>A (p.Ile804Asn)
c.1946T>A (p.Ile649Asn)
18g.23541320T>ACA401793611NPC1c.2359A>T (p.Ile787Phe)
n.2273A>T
n.53A>T
c.1437A>T
c.2410A>T (p.Ile804Phe)
c.1945A>T (p.Ile649Phe)
18g.23541320T>CCA8913137NPC1c.2359A>G (p.Ile787Val)
n.2273A>G
n.53A>G
c.1437A>G
c.2410A>G (p.Ile804Val)
c.1945A>G (p.Ile649Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23541320T>GCA401793612NPC1c.2359A>C (p.Ile787Leu)
n.2273A>C
n.53A>C
c.1437A>C
c.2410A>C (p.Ile804Leu)
c.1945A>C (p.Ile649Leu)
18g.23541320T=CA2290166611NPC1c.2359A= (p.Ile787=)
n.2273A=
n.53A=
c.1437A=
c.2410A= (p.Ile804=)
c.1945A= (p.Ile649=)
18g.23541321G>ACA503522013NPC1c.2358C>T (p.Asp786=)
n.2272C>T
n.52C>T
c.1436C>T
c.2409C>T (p.Asp803=)
c.1944C>T (p.Asp648=)
 ClinVar dbSNP
18g.23541321G>CCA401793613NPC1c.2358C>G (p.Asp786Glu)
n.2272C>G
n.52C>G
c.1436C>G
c.2409C>G (p.Asp803Glu)
c.1944C>G (p.Asp648Glu)
18g.23541321G=CA2290166612NPC1c.2358C= (p.Asp786=)
n.2272C=
n.52C=
c.1436C=
c.2409C= (p.Asp803=)
c.1944C= (p.Asp648=)
18g.23541321G>TCA401793614NPC1c.2358C>A (p.Asp786Glu)
n.2272C>A
n.52C>A
c.1436C>A
c.2409C>A (p.Asp803Glu)
c.1944C>A (p.Asp648Glu)
18g.23541322T>ACA401793615NPC1c.2357A>T (p.Asp786Val)
n.2271A>T
n.51A>T
c.1435A>T
c.2408A>T (p.Asp803Val)
c.1943A>T (p.Asp648Val)
18g.23541322T>CCA401793616NPC1c.2357A>G (p.Asp786Gly)
n.2271A>G
n.51A>G
c.1435A>G
c.2408A>G (p.Asp803Gly)
c.1943A>G (p.Asp648Gly)
18g.23541322T>GCA401793617NPC1c.2357A>C (p.Asp786Ala)
n.2271A>C
n.51A>C
c.1435A>C
c.2408A>C (p.Asp803Ala)
c.1943A>C (p.Asp648Ala)
18g.23541322_23541328dupCA2641274678NPC1c.2351_2357dup (p.Asp786GlufsTer5)
n.2265_2271dup
n.45_51dup
c.1429_1435dup
c.2402_2408dup (p.Asp803GlufsTer5)
c.1937_1943dup (p.Asp648GlufsTer5)
 gnomAD v4
18g.23541323C>ACA401793620NPC1c.2356G>T (p.Asp786Tyr)
n.2270G>T
n.50G>T
c.1434G>T
c.2407G>T (p.Asp803Tyr)
c.1942G>T (p.Asp648Tyr)
18g.23541323C>GCA401793619NPC1c.2356G>C (p.Asp786His)
n.2270G>C
n.50G>C
c.1434G>C
c.2407G>C (p.Asp803His)
c.1942G>C (p.Asp648His)
 gnomAD v4
18g.23541323C>TCA401793618NPC1c.2356G>A (p.Asp786Asn)
n.2270G>A
n.50G>A
c.1434G>A
c.2407G>A (p.Asp803Asn)
c.1942G>A (p.Asp648Asn)
18g.23541324_23541328dupCA2641274680NPC1c.2352_2356dup (p.Asp786GlyfsTer2)
n.2266_2270dup
n.46_50dup
c.1430_1434dup
c.2403_2407dup (p.Asp803GlyfsTer2)
c.1938_1942dup (p.Asp648GlyfsTer2)
 gnomAD v4
18g.23541324T>ACA401793621NPC1c.2355A>T (p.Leu785Phe)
n.2269A>T
n.49A>T
c.1433A>T
c.2406A>T (p.Leu802Phe)
c.1941A>T (p.Leu647Phe)
18g.23541324T>CCA503522014NPC1c.2355A>G (p.Leu785=)
n.2269A>G
n.49A>G
c.1433A>G
c.2406A>G (p.Leu802=)
c.1941A>G (p.Leu647=)
18g.23541324T>GCA401793622NPC1c.2355A>C (p.Leu785Phe)
n.2269A>C
n.49A>C
c.1433A>C
c.2406A>C (p.Leu802Phe)
c.1941A>C (p.Leu647Phe)
 COSMIC
18g.23541325A>CCA401793623NPC1c.2354T>G (p.Leu785Ter)
n.2268T>G
n.48T>G
c.1432T>G
c.2405T>G (p.Leu802Ter)
c.1940T>G (p.Leu647Ter)
18g.23541325A>GCA401793624NPC1c.2354T>C (p.Leu785Ser)
n.2268T>C
n.48T>C
c.1432T>C
c.2405T>C (p.Leu802Ser)
c.1940T>C (p.Leu647Ser)
18g.23541325A>TCA401793625NPC1c.2354T>A (p.Leu785Ter)
n.2268T>A
n.48T>A
c.1432T>A
c.2405T>A (p.Leu802Ter)
c.1940T>A (p.Leu647Ter)
18g.23541326A>CCA401793626NPC1c.2353T>G (p.Leu785Val)
n.2267T>G
n.47T>G
c.1431T>G
c.2404T>G (p.Leu802Val)
c.1939T>G (p.Leu647Val)
18g.23541326A>GCA503522015NPC1c.2353T>C (p.Leu785=)
n.2267T>C
n.47T>C
c.1431T>C
c.2404T>C (p.Leu802=)
c.1939T>C (p.Leu647=)
18g.23541326A>TCA401793627NPC1c.2353T>A (p.Leu785Ile)
n.2267T>A
n.47T>A
c.1431T>A
c.2404T>A (p.Leu802Ile)
c.1939T>A (p.Leu647Ile)
18g.23541327C>ACA503522016NPC1c.2352G>T (p.Gly784=)
n.2266G>T
n.46G>T
c.1430G>T
c.2403G>T (p.Gly801=)
c.1938G>T (p.Gly646=)
18g.23541327C=CA2290166613NPC1c.2352G= (p.Gly784=)
n.2266G=
n.46G=
c.1430G=
c.2403G= (p.Gly801=)
c.1938G= (p.Gly646=)
18g.23541327C>GCA8913138NPC1c.2352G>C (p.Gly784=)
n.2266G>C
n.46G>C
c.1430G>C
c.2403G>C (p.Gly801=)
c.1938G>C (p.Gly646=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23541327C>TCA503522017NPC1c.2352G>A (p.Gly784=)
n.2266G>A
n.46G>A
c.1430G>A
c.2403G>A (p.Gly801=)
c.1938G>A (p.Gly646=)
18g.23541328C>ACA401793628NPC1c.2351G>T (p.Gly784Val)
n.2265G>T
n.45G>T
c.1429G>T
c.2402G>T (p.Gly801Val)
c.1937G>T (p.Gly646Val)
18g.23541328C=CA2290166614NPC1c.2351G= (p.Gly784=)
n.2265G=
n.45G=
c.1429G=
c.2402G= (p.Gly801=)
c.1937G= (p.Gly646=)
18g.23541328C>GCA297082208NPC1c.2351G>C (p.Gly784Ala)
n.2265G>C
n.45G>C
c.1429G>C
c.2402G>C (p.Gly801Ala)
c.1937G>C (p.Gly646Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23541328C>TCA401793629NPC1c.2351G>A (p.Gly784Glu)
n.2265G>A
n.45G>A
c.1429G>A
c.2402G>A (p.Gly801Glu)
c.1937G>A (p.Gly646Glu)
18g.23541329C>ACA401793631NPC1c.2350G>T (p.Gly784Trp)
n.2264G>T
n.44G>T
c.1428G>T
c.2401G>T (p.Gly801Trp)
c.1936G>T (p.Gly646Trp)
18g.23541329C=CA2290166615NPC1c.2350G= (p.Gly784=)
n.2264G=
n.44G=
c.1428G=
c.2401G= (p.Gly801=)
c.1936G= (p.Gly646=)
18g.23541329C>GCA401793632NPC1c.2350G>C (p.Gly784Arg)
n.2264G>C
n.44G>C
c.1428G>C
c.2401G>C (p.Gly801Arg)
c.1936G>C (p.Gly646Arg)
18g.23541329C>TCA401793630NPC1c.2350G>A (p.Gly784Arg)
n.2264G>A
n.44G>A
c.1428G>A
c.2401G>A (p.Gly801Arg)
c.1936G>A (p.Gly646Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23541330C>ACA401793633NPC1c.2349G>T (p.Leu783Phe)
n.2263G>T
n.43G>T
c.1427G>T
c.2400G>T (p.Leu800Phe)
c.1935G>T (p.Leu645Phe)
18g.23541330C=CA2290166616NPC1c.2349G= (p.Leu783=)
n.2263G=
n.43G=
c.1427G=
c.2400G= (p.Leu800=)
c.1935G= (p.Leu645=)
18g.23541330C>GCA8913139NPC1c.2349G>C (p.Leu783Phe)
n.2263G>C
n.43G>C
c.1427G>C
c.2400G>C (p.Leu800Phe)
c.1935G>C (p.Leu645Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23541330C>TCA503522018NPC1c.2349G>A (p.Leu783=)
n.2263G>A
n.43G>A
c.1427G>A
c.2400G>A (p.Leu800=)
c.1935G>A (p.Leu645=)
 dbSNP gnomAD v3 gnomAD v4
18g.23541331A>CCA401793634NPC1c.2348T>G (p.Leu783Trp)
n.2262T>G
n.42T>G
c.1426T>G
c.2399T>G (p.Leu800Trp)
c.1934T>G (p.Leu645Trp)
18g.23541331A>GCA401793635NPC1c.2348T>C (p.Leu783Ser)
n.2262T>C
n.42T>C
c.1426T>C
c.2399T>C (p.Leu800Ser)
c.1934T>C (p.Leu645Ser)
18g.23541331A>TCA401793636NPC1c.2348T>A (p.Leu783Ter)
n.2262T>A
n.42T>A
c.1426T>A
c.2399T>A (p.Leu800Ter)
c.1934T>A (p.Leu645Ter)
18g.23541332A=CA2290166617NPC1c.2347T= (p.Leu783=)
n.2261T=
n.41T=
c.1425T=
c.2398T= (p.Leu800=)
c.1933T= (p.Leu645=)
18g.23541332A>CCA401793637NPC1c.2347T>G (p.Leu783Val)
n.2261T>G
n.41T>G
c.1425T>G
c.2398T>G (p.Leu800Val)
c.1933T>G (p.Leu645Val)
18g.23541332A>GCA8913140NPC1c.2347T>C (p.Leu783=)
n.2261T>C
n.41T>C
c.1425T>C
c.2398T>C (p.Leu800=)
c.1933T>C (p.Leu645=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23541332A>TCA401793638NPC1c.2347T>A (p.Leu783Met)
n.2261T>A
n.41T>A
c.1425T>A
c.2398T>A (p.Leu800Met)
c.1933T>A (p.Leu645Met)
18g.23541333G>ACA503522019NPC1c.2346C>T (p.Leu782=)
n.2260C>T
n.40C>T
c.1424C>T
c.2397C>T (p.Leu799=)
c.1932C>T (p.Leu644=)
18g.23541333G>CCA503522020NPC1c.2346C>G (p.Leu782=)
n.2260C>G
n.40C>G
c.1424C>G
c.2397C>G (p.Leu799=)
c.1932C>G (p.Leu644=)
18g.23541333G>TCA503522021NPC1c.2346C>A (p.Leu782=)
n.2260C>A
n.40C>A
c.1424C>A
c.2397C>A (p.Leu799=)
c.1932C>A (p.Leu644=)
 gnomAD v4
18g.23541334A>CCA401793639NPC1c.2345T>G (p.Leu782Arg)
n.2259T>G
n.39T>G
c.1423T>G
c.2396T>G (p.Leu799Arg)
c.1931T>G (p.Leu644Arg)
18g.23541334A>GCA401793640NPC1c.2345T>C (p.Leu782Pro)
n.2259T>C
n.39T>C
c.1423T>C
c.2396T>C (p.Leu799Pro)
c.1931T>C (p.Leu644Pro)
18g.23541334A>TCA401793641NPC1c.2345T>A (p.Leu782His)
n.2259T>A
n.39T>A
c.1423T>A
c.2396T>A (p.Leu799His)
c.1931T>A (p.Leu644His)
18g.23541335G>ACA401793643NPC1c.2344C>T (p.Leu782Phe)
n.2258C>T
n.38C>T
c.1422C>T
c.2395C>T (p.Leu799Phe)
c.1930C>T (p.Leu644Phe)
 COSMIC
18g.23541335G>CCA401793644NPC1c.2344C>G (p.Leu782Val)
n.2258C>G
n.38C>G
c.1422C>G
c.2395C>G (p.Leu799Val)
c.1930C>G (p.Leu644Val)
18g.23541335G=CA2290166618NPC1c.2344C= (p.Leu782=)
n.2258C=
n.38C=
c.1422C=
c.2395C= (p.Leu799=)
c.1930C= (p.Leu644=)
18g.23541335G>TCA401793642NPC1c.2344C>A (p.Leu782Ile)
n.2258C>A
n.38C>A
c.1422C>A
c.2395C>A (p.Leu799Ile)
c.1930C>A (p.Leu644Ile)
 dbSNP gnomAD v2 gnomAD v4
18g.23541336A>CCA401793645NPC1c.2343T>G (p.Ser781Arg)
n.2257T>G
n.37T>G
c.1421T>G
c.2394T>G (p.Ser798Arg)
c.1929T>G (p.Ser643Arg)
18g.23541336A>GCA503521753NPC1c.2343T>C (p.Ser781=)
n.2257T>C
n.37T>C
c.1421T>C
c.2394T>C (p.Ser798=)
c.1929T>C (p.Ser643=)
18g.23541336A>TCA401793646NPC1c.2343T>A (p.Ser781Arg)
n.2257T>A
n.37T>A
c.1421T>A
c.2394T>A (p.Ser798Arg)
c.1929T>A (p.Ser643Arg)
18g.23541337C>ACA401793647NPC1c.2342G>T (p.Ser781Ile)
n.2256G>T
n.36G>T
c.1420G>T
c.2393G>T (p.Ser798Ile)
c.1928G>T (p.Ser643Ile)
 dbSNP
18g.23541337C=CA2290166619NPC1c.2342G= (p.Ser781=)
n.2256G=
n.36G=
c.1420G=
c.2393G= (p.Ser798=)
c.1928G= (p.Ser643=)
18g.23541337C>GCA401793648NPC1c.2342G>C (p.Ser781Thr)
n.2256G>C
n.36G>C
c.1420G>C
c.2393G>C (p.Ser798Thr)
c.1928G>C (p.Ser643Thr)
 COSMIC
18g.23541337C>TCA401793649NPC1c.2342G>A (p.Ser781Asn)
n.2256G>A
n.36G>A
c.1420G>A
c.2393G>A (p.Ser798Asn)
c.1928G>A (p.Ser643Asn)
18g.23541338T>ACA401793651NPC1c.2341A>T (p.Ser781Cys)
n.2255A>T
n.35A>T
c.1419A>T
c.2392A>T (p.Ser798Cys)
c.1927A>T (p.Ser643Cys)
18g.23541338T>CCA8913141NPC1c.2341A>G (p.Ser781Gly)
n.2255A>G
n.35A>G
c.1419A>G
c.2392A>G (p.Ser798Gly)
c.1927A>G (p.Ser643Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23541338T>GCA401793650NPC1c.2341A>C (p.Ser781Arg)
n.2255A>C
n.35A>C
c.1419A>C
c.2392A>C (p.Ser798Arg)
c.1927A>C (p.Ser643Arg)
18g.23541338T=CA2290166620NPC1c.2341A= (p.Ser781=)
n.2255A=
n.35A=
c.1419A=
c.2392A= (p.Ser798=)
c.1927A= (p.Ser643=)
18g.23541339C>ACA503521755NPC1c.2340G>T (p.Val780=)
n.2254G>T
n.34G>T
c.1418G>T
c.2391G>T (p.Val797=)
c.1926G>T (p.Val642=)
18g.23541339C>GCA503521757NPC1c.2340G>C (p.Val780=)
n.2254G>C
n.34G>C
c.1418G>C
c.2391G>C (p.Val797=)
c.1926G>C (p.Val642=)
 gnomAD v4
18g.23541339C>TCA503521756NPC1c.2340G>A (p.Val780=)
n.2254G>A
n.34G>A
c.1418G>A
c.2391G>A (p.Val797=)
c.1926G>A (p.Val642=)
18g.23541340A>CCA401793652NPC1c.2339T>G (p.Val780Gly)
n.2253T>G
n.33T>G
c.1417T>G
c.2390T>G (p.Val797Gly)
c.1925T>G (p.Val642Gly)
18g.23541340A>GCA401793653NPC1c.2339T>C (p.Val780Ala)
n.2253T>C
n.33T>C
c.1417T>C
c.2390T>C (p.Val797Ala)
c.1925T>C (p.Val642Ala)
18g.23541340A>TCA401793654NPC1c.2339T>A (p.Val780Glu)
n.2253T>A
n.33T>A
c.1417T>A
c.2390T>A (p.Val797Glu)
c.1925T>A (p.Val642Glu)
18g.23541341C>ACA401793655NPC1c.2338G>T (p.Val780Leu)
n.2252G>T
n.32G>T
c.1416G>T
c.2389G>T (p.Val797Leu)
c.1924G>T (p.Val642Leu)
 gnomAD v4
18g.23541341C=CA2290166621NPC1c.2338G= (p.Val780=)
n.2252G=
n.32G=
c.1416G=
c.2389G= (p.Val797=)
c.1924G= (p.Val642=)
18g.23541341C>GCA401793656NPC1c.2338G>C (p.Val780Leu)
n.2252G>C
n.32G>C
c.1416G>C
c.2389G>C (p.Val797Leu)
c.1924G>C (p.Val642Leu)
18g.23541341C>TCA8913142NPC1c.2338G>A (p.Val780Met)
n.2252G>A
n.32G>A
c.1416G>A
c.2389G>A (p.Val797Met)
c.1924G>A (p.Val642Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23541342G>ACA8913143NPC1c.2337C>T (p.Phe779=)
n.2251C>T
n.31C>T
c.1415C>T
c.2388C>T (p.Phe796=)
c.1923C>T (p.Phe641=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23541342G>CCA401793658NPC1c.2337C>G (p.Phe779Leu)
n.2251C>G
n.31C>G
c.1415C>G
c.2388C>G (p.Phe796Leu)
c.1923C>G (p.Phe641Leu)
 gnomAD v4
18g.23541342G=CA2290166622NPC1c.2337C= (p.Phe779=)
n.2251C=
n.31C=
c.1415C=
c.2388C= (p.Phe796=)
c.1923C= (p.Phe641=)
18g.23541342G>TCA401793657NPC1c.2337C>A (p.Phe779Leu)
n.2251C>A
n.31C>A
c.1415C>A
c.2388C>A (p.Phe796Leu)
c.1923C>A (p.Phe641Leu)
 dbSNP gnomAD v3 gnomAD v4
18g.23541343A=CA2290166623NPC1c.2336T= (p.Phe779=)
n.2250T=
n.30T=
c.1414T=
c.2387T= (p.Phe796=)
c.1922T= (p.Phe641=)
18g.23541343A>CCA401793661NPC1c.2336T>G (p.Phe779Cys)
n.2250T>G
n.30T>G
c.1414T>G
c.2387T>G (p.Phe796Cys)
c.1922T>G (p.Phe641Cys)
 dbSNP gnomAD v2 gnomAD v4
18g.23541343A>GCA401793659NPC1c.2336T>C (p.Phe779Ser)
n.2250T>C
n.30T>C
c.1414T>C
c.2387T>C (p.Phe796Ser)
c.1922T>C (p.Phe641Ser)
18g.23541343A>TCA401793660NPC1c.2336T>A (p.Phe779Tyr)
n.2250T>A
n.30T>A
c.1414T>A
c.2387T>A (p.Phe796Tyr)
c.1922T>A (p.Phe641Tyr)
18g.23541345dupCA2576470839NPC1c.2336dup (p.Val780ArgfsTer9)
n.2250dup
n.30dup
c.1414dup
c.2387dup (p.Val797ArgfsTer9)
c.1922dup (p.Val642ArgfsTer9)
18g.23541345delCA913187481NPC1c.2336del (p.Phe779SerfsTer2)
n.2250del
n.30del
c.1414del
c.2387del (p.Phe796SerfsTer2)
c.1922del (p.Phe641SerfsTer2)
 ClinVar gnomAD v4
18g.23541344A=CA2290166624NPC1c.2335T= (p.Phe779=)
n.2249T=
n.29T=
c.1413T=
c.2386T= (p.Phe796=)
c.1921T= (p.Phe641=)
18g.23541344A>CCA401793662NPC1c.2335T>G (p.Phe779Val)
n.2249T>G
n.29T>G
c.1413T>G
c.2386T>G (p.Phe796Val)
c.1921T>G (p.Phe641Val)
18g.23541344A>GCA401793663NPC1c.2335T>C (p.Phe779Leu)
n.2249T>C
n.29T>C
c.1413T>C
c.2386T>C (p.Phe796Leu)
c.1921T>C (p.Phe641Leu)
 ClinVar dbSNP gnomAD v4
18g.23541344A>TCA401793664NPC1c.2335T>A (p.Phe779Ile)
n.2249T>A
n.29T>A
c.1413T>A
c.2386T>A (p.Phe796Ile)
c.1921T>A (p.Phe641Ile)
18g.23541345A>CCA401793665NPC1c.2334T>G (p.Cys778Trp)
n.2248T>G
n.28T>G
c.1412T>G
c.2385T>G (p.Cys795Trp)
c.1920T>G (p.Cys640Trp)
18g.23541345A>GCA503521760NPC1c.2334T>C (p.Cys778=)
n.2248T>C
n.28T>C
c.1412T>C
c.2385T>C (p.Cys795=)
c.1920T>C (p.Cys640=)
18g.23541345A>TCA401793666NPC1c.2334T>A (p.Cys778Ter)
n.2248T>A
n.28T>A
c.1412T>A
c.2385T>A (p.Cys795Ter)
c.1920T>A (p.Cys640Ter)
18g.23541346C>ACA401793667NPC1c.2333G>T (p.Cys778Phe)
n.2247G>T
n.27G>T
c.1411G>T
c.2384G>T (p.Cys795Phe)
c.1919G>T (p.Cys640Phe)
18g.23541346C=CA2290166625NPC1c.2333G= (p.Cys778=)
n.2247G=
n.27G=
c.1411G=
c.2384G= (p.Cys795=)
c.1919G= (p.Cys640=)
18g.23541346C>GCA401793668NPC1c.2333G>C (p.Cys778Ser)
n.2247G>C
n.27G>C
c.1411G>C
c.2384G>C (p.Cys795Ser)
c.1919G>C (p.Cys640Ser)
18g.23541346C>TCA401793669NPC1c.2333G>A (p.Cys778Tyr)
n.2247G>A
n.27G>A
c.1411G>A
c.2384G>A (p.Cys795Tyr)
c.1919G>A (p.Cys640Tyr)
 dbSNP gnomAD v2 gnomAD v4
18g.23541347A>CCA401793670NPC1c.2332T>G (p.Cys778Gly)
n.2246T>G
n.26T>G
c.1410T>G
c.2383T>G (p.Cys795Gly)
c.1918T>G (p.Cys640Gly)
18g.23541347A>GCA401793671NPC1c.2332T>C (p.Cys778Arg)
n.2246T>C
n.26T>C
c.1410T>C
c.2383T>C (p.Cys795Arg)
c.1918T>C (p.Cys640Arg)
18g.23541347A>TCA401793672NPC1c.2332T>A (p.Cys778Ser)
n.2246T>A
n.26T>A
c.1410T>A
c.2383T>A (p.Cys795Ser)
c.1918T>A (p.Cys640Ser)
18g.23541348G>ACA503521764NPC1c.2331C>T (p.Thr777=)
n.2245C>T
n.25C>T
c.1409C>T
c.2382C>T (p.Thr794=)
c.1917C>T (p.Thr639=)
 gnomAD v4
18g.23541348G>CCA503521765NPC1c.2331C>G (p.Thr777=)
n.2245C>G
n.25C>G
c.1409C>G
c.2382C>G (p.Thr794=)
c.1917C>G (p.Thr639=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.23541348G=CA2290166626NPC1c.2331C= (p.Thr777=)
n.2245C=
n.25C=
c.1409C=
c.2382C= (p.Thr794=)
c.1917C= (p.Thr639=)
18g.23541348G>TCA503521763NPC1c.2331C>A (p.Thr777=)
n.2245C>A
n.25C>A
c.1409C>A
c.2382C>A (p.Thr794=)
c.1917C>A (p.Thr639=)
18g.23541349G>ACA401793674NPC1c.2330C>T (p.Thr777Ile)
n.2244C>T
n.24C>T
c.1408C>T
c.2381C>T (p.Thr794Ile)
c.1916C>T (p.Thr639Ile)
 ClinVar dbSNP
18g.23541349G>CCA401793673NPC1c.2330C>G (p.Thr777Ser)
n.2244C>G
n.24C>G
c.1408C>G
c.2381C>G (p.Thr794Ser)
c.1916C>G (p.Thr639Ser)
 gnomAD v4
18g.23541349G=CA2290166627NPC1c.2330C= (p.Thr777=)
n.2244C=
n.24C=
c.1408C=
c.2381C= (p.Thr794=)
c.1916C= (p.Thr639=)
18g.23541349G>TCA8913144NPC1c.2330C>A (p.Thr777Asn)
n.2244C>A
n.24C>A
c.1408C>A
c.2381C>A (p.Thr794Asn)
c.1916C>A (p.Thr639Asn)
 dbSNP ExAC gnomAD v2
18g.23541350T>ACA401793675NPC1c.2329A>T (p.Thr777Ser)
n.2243A>T
n.23A>T
c.1407A>T
c.2380A>T (p.Thr794Ser)
c.1915A>T (p.Thr639Ser)
18g.23541350T>CCA401793676NPC1c.2329A>G (p.Thr777Ala)
n.2243A>G
n.23A>G
c.1407A>G
c.2380A>G (p.Thr794Ala)
c.1915A>G (p.Thr639Ala)
18g.23541350T>GCA401793677NPC1c.2329A>C (p.Thr777Pro)
n.2243A>C
n.23A>C
c.1407A>C
c.2380A>C (p.Thr794Pro)
c.1915A>C (p.Thr639Pro)
18g.23541351A>CCA401793678NPC1c.2328T>G (p.Ile776Met)
n.2242T>G
n.22T>G
c.1406T>G
c.2379T>G (p.Ile793Met)
c.1914T>G (p.Ile638Met)
18g.23541351A>GCA503521767NPC1c.2328T>C (p.Ile776=)
n.2242T>C
n.22T>C
c.1406T>C
c.2379T>C (p.Ile793=)
c.1914T>C (p.Ile638=)
18g.23541351A>TCA503521768NPC1c.2328T>A (p.Ile776=)
n.2242T>A
n.22T>A
c.1406T>A
c.2379T>A (p.Ile793=)
c.1914T>A (p.Ile638=)
18g.23541352A>CCA401793679NPC1c.2327T>G (p.Ile776Ser)
n.2241T>G
n.21T>G
c.1405T>G
c.2378T>G (p.Ile793Ser)
c.1913T>G (p.Ile638Ser)
18g.23541352A>GCA401793680NPC1c.2327T>C (p.Ile776Thr)
n.2241T>C
n.21T>C
c.1405T>C
c.2378T>C (p.Ile793Thr)
c.1913T>C (p.Ile638Thr)
18g.23541352A>TCA401793681NPC1c.2327T>A (p.Ile776Asn)
n.2241T>A
n.21T>A
c.1405T>A
c.2378T>A (p.Ile793Asn)
c.1913T>A (p.Ile638Asn)
18g.23541353T>ACA401793682NPC1c.2326A>T (p.Ile776Phe)
n.2240A>T
n.20A>T
c.1404A>T
c.2377A>T (p.Ile793Phe)
c.1912A>T (p.Ile638Phe)
18g.23541353T>CCA401793683NPC1c.2326A>G (p.Ile776Val)
n.2240A>G
n.20A>G
c.1404A>G
c.2377A>G (p.Ile793Val)
c.1912A>G (p.Ile638Val)
18g.23541353T>GCA401793684NPC1c.2326A>C (p.Ile776Leu)
n.2240A>C
n.20A>C
c.1404A>C
c.2377A>C (p.Ile793Leu)
c.1912A>C (p.Ile638Leu)
18g.23541354C>ACA401793685NPC1c.2325G>T (p.Gln775His)
n.2239G>T
n.19G>T
c.1403G>T
c.2376G>T (p.Gln792His)
c.1911G>T (p.Gln637His)
18g.23541354C>GCA401793686NPC1c.2325G>C (p.Gln775His)
n.2239G>C
n.19G>C
c.1403G>C
c.2376G>C (p.Gln792His)
c.1911G>C (p.Gln637His)
18g.23541354C>TCA503521769NPC1c.2325G>A (p.Gln775=)
n.2239G>A
n.19G>A
c.1403G>A
c.2376G>A (p.Gln792=)
c.1911G>A (p.Gln637=)
 ClinVar dbSNP
18g.23541355T>ACA401793688NPC1c.2324A>T (p.Gln775Leu)
n.2238A>T
n.18A>T
c.1402A>T
c.2375A>T (p.Gln792Leu)
c.1910A>T (p.Gln637Leu)
18g.23541355T>CCA401793687NPC1c.2324A>G (p.Gln775Arg)
n.2238A>G
n.18A>G
c.1402A>G
c.2375A>G (p.Gln792Arg)
c.1910A>G (p.Gln637Arg)
18g.23541355T>GCA341662NPC1c.2324A>C (p.Gln775Pro)
n.2238A>C
n.18A>C
c.1402A>C
c.2375A>C (p.Gln792Pro)
c.1910A>C (p.Gln637Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23541355T=CA2290166628NPC1c.2324A= (p.Gln775=)
n.2238A=
n.18A=
c.1402A=
c.2375A= (p.Gln792=)
c.1910A= (p.Gln637=)
18g.23541356G>ACA401793689NPC1c.2323C>T (p.Gln775Ter)
n.2237C>T
n.17C>T
c.1401C>T
c.2374C>T (p.Gln792Ter)
c.1909C>T (p.Gln637Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.23541356G>CCA401793690NPC1c.2323C>G (p.Gln775Glu)
n.2237C>G
n.17C>G
c.1401C>G
c.2374C>G (p.Gln792Glu)
c.1909C>G (p.Gln637Glu)
 gnomAD v4
18g.23541356G=CA2290166629NPC1c.2323C= (p.Gln775=)
n.2237C=
n.17C=
c.1401C=
c.2374C= (p.Gln792=)
c.1909C= (p.Gln637=)
18g.23541356G>TCA401793691NPC1c.2323C>A (p.Gln775Lys)
n.2237C>A
n.17C>A
c.1401C>A
c.2374C>A (p.Gln792Lys)
c.1909C>A (p.Gln637Lys)
18g.23541357C>ACA503521772NPC1c.2322G>T (p.Leu774=)
n.2236G>T
n.16G>T
c.1400G>T
c.2373G>T (p.Leu791=)
c.1908G>T (p.Leu636=)
 dbSNP gnomAD v2 gnomAD v4
18g.23541357C=CA2290166630NPC1c.2322G= (p.Leu774=)
n.2236G=
n.16G=
c.1400G=
c.2373G= (p.Leu791=)
c.1908G= (p.Leu636=)
18g.23541357C>GCA503521773NPC1c.2322G>C (p.Leu774=)
n.2236G>C
n.16G>C
c.1400G>C
c.2373G>C (p.Leu791=)
c.1908G>C (p.Leu636=)
 ClinVar dbSNP gnomAD v4
18g.23541357C>TCA503521774NPC1c.2322G>A (p.Leu774=)
n.2236G>A
n.16G>A
c.1400G>A
c.2373G>A (p.Leu791=)
c.1908G>A (p.Leu636=)
18g.23541358A>CCA401793692NPC1c.2321T>G (p.Leu774Arg)
n.2235T>G
n.15T>G
c.1399T>G
c.2372T>G (p.Leu791Arg)
c.1907T>G (p.Leu636Arg)
18g.23541358A>GCA401793693NPC1c.2321T>C (p.Leu774Pro)
n.2235T>C
n.15T>C
c.1399T>C
c.2372T>C (p.Leu791Pro)
c.1907T>C (p.Leu636Pro)
18g.23541358A>TCA401793694NPC1c.2321T>A (p.Leu774Gln)
n.2235T>A
n.15T>A
c.1399T>A
c.2372T>A (p.Leu791Gln)
c.1907T>A (p.Leu636Gln)
18g.23541359G>ACA503521775NPC1c.2320C>T (p.Leu774=)
n.2234C>T
n.14C>T
c.1398C>T
c.2371C>T (p.Leu791=)
c.1906C>T (p.Leu636=)
 gnomAD v4
18g.23541359G>CCA401793695NPC1c.2320C>G (p.Leu774Val)
n.2234C>G
n.14C>G
c.1398C>G
c.2371C>G (p.Leu791Val)
c.1906C>G (p.Leu636Val)
18g.23541359G>TCA401793696NPC1c.2320C>A (p.Leu774Met)
n.2234C>A
n.14C>A
c.1398C>A
c.2371C>A (p.Leu791Met)
c.1906C>A (p.Leu636Met)
18g.23541360A>CCA503521778NPC1c.2319T>G (p.Leu773=)
n.2233T>G
n.13T>G
c.1397T>G
c.2370T>G (p.Leu790=)
c.1905T>G (p.Leu635=)
 ClinVar dbSNP
18g.23541360A>GCA503521779NPC1c.2319T>C (p.Leu773=)
n.2233T>C
n.13T>C
c.1397T>C
c.2370T>C (p.Leu790=)
c.1905T>C (p.Leu635=)
 ClinVar dbSNP
18g.23541360A>TCA503521780NPC1c.2319T>A (p.Leu773=)
n.2233T>A
n.13T>A
c.1397T>A
c.2370T>A (p.Leu790=)
c.1905T>A (p.Leu635=)
18g.23541361A>CCA401793697NPC1c.2318T>G (p.Leu773Arg)
n.2232T>G
n.12T>G
c.1396T>G
c.2369T>G (p.Leu790Arg)
c.1904T>G (p.Leu635Arg)
18g.23541361A>GCA401793698NPC1c.2318T>C (p.Leu773Pro)
n.2232T>C
n.12T>C
c.1396T>C
c.2369T>C (p.Leu790Pro)
c.1904T>C (p.Leu635Pro)
18g.23541361A>TCA401793699NPC1c.2318T>A (p.Leu773His)
n.2232T>A
n.12T>A
c.1396T>A
c.2369T>A (p.Leu790His)
c.1904T>A (p.Leu635His)
18g.23541362G>ACA8913145NPC1c.2317C>T (p.Leu773Phe)
n.2231C>T
n.11C>T
c.1395C>T
c.2368C>T (p.Leu790Phe)
c.1903C>T (p.Leu635Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23541362G>CCA401793700NPC1c.2317C>G (p.Leu773Val)
n.2231C>G
n.11C>G
c.1395C>G
c.2368C>G (p.Leu790Val)
c.1903C>G (p.Leu635Val)
 gnomAD v4
18g.23541362G=CA2290166631NPC1c.2317C= (p.Leu773=)
n.2231C=
n.11C=
c.1395C=
c.2368C= (p.Leu790=)
c.1903C= (p.Leu635=)
18g.23541362G>TCA8913146NPC1c.2317C>A (p.Leu773Ile)
n.2231C>A
n.11C>A
c.1395C>A
c.2368C>A (p.Leu790Ile)
c.1903C>A (p.Leu635Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23541363A>CCA401793702NPC1c.2316T>G (p.Phe772Leu)
n.2230T>G
n.10T>G
c.1394T>G
c.2367T>G (p.Phe789Leu)
c.1902T>G (p.Phe634Leu)
18g.23541363A>GCA503521784NPC1c.2316T>C (p.Phe772=)
n.2230T>C
n.10T>C
c.1394T>C
c.2367T>C (p.Phe789=)
c.1902T>C (p.Phe634=)
 ClinVar
18g.23541363A>TCA401793701NPC1c.2316T>A (p.Phe772Leu)
n.2230T>A
n.10T>A
c.1394T>A
c.2367T>A (p.Phe789Leu)
c.1902T>A (p.Phe634Leu)
18g.23541364A=CA2290166632NPC1c.2315T= (p.Phe772=)
n.2229T=
n.9T=
c.1393T=
c.2366T= (p.Phe789=)
c.1901T= (p.Phe634=)
18g.23541364A>CCA401793703NPC1c.2315T>G (p.Phe772Cys)
n.2229T>G
n.9T>G
c.1393T>G
c.2366T>G (p.Phe789Cys)
c.1901T>G (p.Phe634Cys)
 dbSNP gnomAD v2
18g.23541364A>GCA401793704NPC1c.2315T>C (p.Phe772Ser)
n.2229T>C
n.9T>C
c.1393T>C
c.2366T>C (p.Phe789Ser)
c.1901T>C (p.Phe634Ser)
18g.23541364A>TCA401793705NPC1c.2315T>A (p.Phe772Tyr)
n.2229T>A
n.9T>A
c.1393T>A
c.2366T>A (p.Phe789Tyr)
c.1901T>A (p.Phe634Tyr)
18g.23541364_23541367delCA2641274706NPC1c.2312_2315del (p.Asp771ValfsTer9)
n.2226_2229del
n.6_9del
c.1390_1393del
c.2363_2366del (p.Asp788ValfsTer9)
c.1898_1901del (p.Asp633ValfsTer9)
 gnomAD v4
18g.23541365A=CA2290166633NPC1c.2314T= (p.Phe772=)
n.2228T=
n.8T=
c.1392T=
c.2365T= (p.Phe789=)
c.1900T= (p.Phe634=)
18g.23541365A>CCA401793706NPC1c.2314T>G (p.Phe772Val)
n.2228T>G
n.8T>G
c.1392T>G
c.2365T>G (p.Phe789Val)
c.1900T>G (p.Phe634Val)
 ClinVar dbSNP
18g.23541365A>GCA401793707NPC1c.2314T>C (p.Phe772Leu)
n.2228T>C
n.8T>C
c.1392T>C
c.2365T>C (p.Phe789Leu)
c.1900T>C (p.Phe634Leu)
18g.23541365A>TCA401793708NPC1c.2314T>A (p.Phe772Ile)
n.2228T>A
n.8T>A
c.1392T>A
c.2365T>A (p.Phe789Ile)
c.1900T>A (p.Phe634Ile)
18g.23541366G>ACA503521788NPC1c.2313C>T (p.Asp771=)
n.2227C>T
n.7C>T
c.1391C>T
c.2364C>T (p.Asp788=)
c.1899C>T (p.Asp633=)
18g.23541366G>CCA401793709NPC1c.2313C>G (p.Asp771Glu)
n.2227C>G
n.7C>G
c.1391C>G
c.2364C>G (p.Asp788Glu)
c.1899C>G (p.Asp633Glu)
18g.23541366G>TCA401793710NPC1c.2313C>A (p.Asp771Glu)
n.2227C>A
n.7C>A
c.1391C>A
c.2364C>A (p.Asp788Glu)
c.1899C>A (p.Asp633Glu)
18g.23541367T>ACA401793711NPC1c.2312A>T (p.Asp771Val)
n.2226A>T
n.6A>T
c.1390A>T
c.2363A>T (p.Asp788Val)
c.1898A>T (p.Asp633Val)
18g.23541367T>CCA401793712NPC1c.2312A>G (p.Asp771Gly)
n.2226A>G
n.6A>G
c.1390A>G
c.2363A>G (p.Asp788Gly)
c.1898A>G (p.Asp633Gly)
18g.23541367T>GCA401793713NPC1c.2312A>C (p.Asp771Ala)
n.2226A>C
n.6A>C
c.1390A>C
c.2363A>C (p.Asp788Ala)
c.1898A>C (p.Asp633Ala)
18g.23541368C>ACA401793714NPC1c.2311G>T (p.Asp771Tyr)
n.2225G>T
n.5G>T
c.1389G>T
c.2362G>T (p.Asp788Tyr)
c.1897G>T (p.Asp633Tyr)
18g.23541368C>GCA401793715NPC1c.2311G>C (p.Asp771His)
n.2225G>C
n.5G>C
c.1389G>C
c.2362G>C (p.Asp788His)
c.1897G>C (p.Asp633His)
18g.23541368C>TCA401793716NPC1c.2311G>A (p.Asp771Asn)
n.2225G>A
n.5G>A
c.1389G>A
c.2362G>A (p.Asp788Asn)
c.1897G>A (p.Asp633Asn)
18g.23541369A>CCA401793717NPC1c.2310T>G (p.Ile770Met)
n.2224T>G
n.4T>G
c.1388T>G
c.2361T>G (p.Ile787Met)
c.1896T>G (p.Ile632Met)
18g.23541369A>GCA503521791NPC1c.2310T>C (p.Ile770=)
n.2224T>C
n.4T>C
c.1388T>C
c.2361T>C (p.Ile787=)
c.1896T>C (p.Ile632=)
18g.23541369A>TCA503521792NPC1c.2310T>A (p.Ile770=)
n.2224T>A
n.4T>A
c.1388T>A
c.2361T>A (p.Ile787=)
c.1896T>A (p.Ile632=)
18g.23541370A>CCA401793719NPC1c.2309T>G (p.Ile770Ser)
n.2223T>G
n.3T>G
c.1387T>G
c.2360T>G (p.Ile787Ser)
c.1895T>G (p.Ile632Ser)
18g.23541370A>GCA401793718NPC1c.2309T>C (p.Ile770Thr)
n.2223T>C
n.3T>C
c.1387T>C
c.2360T>C (p.Ile787Thr)
c.1895T>C (p.Ile632Thr)
 ClinVar dbSNP gnomAD v4
18g.23541370A>TCA401793720NPC1c.2309T>A (p.Ile770Asn)
n.2223T>A
n.3T>A
c.1387T>A
c.2360T>A (p.Ile787Asn)
c.1895T>A (p.Ile632Asn)
18g.23541371T>ACA401793721NPC1c.2308A>T (p.Ile770Phe)
n.2222A>T
n.2A>T
c.1386A>T
c.2359A>T (p.Ile787Phe)
c.1894A>T (p.Ile632Phe)
18g.23541371T>CCA8913147NPC1c.2308A>G (p.Ile770Val)
n.2222A>G
n.2A>G
c.1386A>G
c.2359A>G (p.Ile787Val)
c.1894A>G (p.Ile632Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23541371T>GCA401793722NPC1c.2308A>C (p.Ile770Leu)
n.2222A>C
n.2A>C
c.1386A>C
c.2359A>C (p.Ile787Leu)
c.1894A>C (p.Ile632Leu)
18g.23541371T=CA2290166634NPC1c.2308A= (p.Ile770=)
n.2222A=
n.2A=
c.1386A=
c.2359A= (p.Ile787=)
c.1894A= (p.Ile632=)
18g.23541372G>ACA503521794NPC1c.2307C>T (p.Phe769=)
n.2221C>T
n.1C>T
c.1385C>T
c.2358C>T (p.Phe786=)
c.1893C>T (p.Phe631=)
18g.23541372G>CCA401793723NPC1c.2307C>G (p.Phe769Leu)
n.2221C>G
n.1C>G
c.1385C>G
c.2358C>G (p.Phe786Leu)
c.1893C>G (p.Phe631Leu)
18g.23541372G>TCA401793724NPC1c.2307C>A (p.Phe769Leu)
n.2221C>A
n.1C>A
c.1385C>A
c.2358C>A (p.Phe786Leu)
c.1893C>A (p.Phe631Leu)
 gnomAD v4
18g.23541373A>CCA401793725NPC1c.2306T>G (p.Phe769Cys)
n.2220T>G
c.1384T>G
c.2357T>G (p.Phe786Cys)
c.1892T>G (p.Phe631Cys)
18g.23541373A>GCA401793727NPC1c.2306T>C (p.Phe769Ser)
n.2220T>C
c.1384T>C
c.2357T>C (p.Phe786Ser)
c.1892T>C (p.Phe631Ser)
18g.23541373A>TCA401793726NPC1c.2306T>A (p.Phe769Tyr)
n.2220T>A
c.1384T>A
c.2357T>A (p.Phe786Tyr)
c.1892T>A (p.Phe631Tyr)
18g.23541374A>CCA401793728NPC1c.2305T>G (p.Phe769Val)
n.2219T>G
c.1383T>G
c.2356T>G (p.Phe786Val)
c.1891T>G (p.Phe631Val)
18g.23541374A>GCA401793730NPC1c.2305T>C (p.Phe769Leu)
n.2219T>C
c.1383T>C
c.2356T>C (p.Phe786Leu)
c.1891T>C (p.Phe631Leu)
18g.23541374A>TCA401793729NPC1c.2305T>A (p.Phe769Ile)
n.2219T>A
c.1383T>A
c.2356T>A (p.Phe786Ile)
c.1891T>A (p.Phe631Ile)
18g.23541375G>ACA8913148NPC1c.2304C>T (p.Val768=)
n.2218C>T
c.1382C>T
c.2355C>T (p.Val785=)
c.1890C>T (p.Val630=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23541375G>CCA503521797NPC1c.2304C>G (p.Val768=)
n.2218C>G
c.1382C>G
c.2355C>G (p.Val785=)
c.1890C>G (p.Val630=)
18g.23541375G=CA2290166635NPC1c.2304C= (p.Val768=)
n.2218C=
c.1382C=
c.2355C= (p.Val785=)
c.1890C= (p.Val630=)
18g.23541375G>TCA503521798NPC1c.2304C>A (p.Val768=)
n.2218C>A
c.1382C>A
c.2355C>A (p.Val785=)
c.1890C>A (p.Val630=)
18g.23541376A=CA2290166636NPC1c.2303T= (p.Val768=)
n.2217T=
c.1381T=
c.2354T= (p.Val785=)
c.1889T= (p.Val630=)
18g.23541376A>CCA401793731NPC1c.2303T>G (p.Val768Gly)
n.2217T>G
c.1381T>G
c.2354T>G (p.Val785Gly)
c.1889T>G (p.Val630Gly)
18g.23541376A>GCA401793732NPC1c.2303T>C (p.Val768Ala)
n.2217T>C
c.1381T>C
c.2354T>C (p.Val785Ala)
c.1889T>C (p.Val630Ala)
18g.23541376A>TCA401793733NPC1c.2303T>A (p.Val768Asp)
n.2217T>A
c.1381T>A
c.2354T>A (p.Val785Asp)
c.1889T>A (p.Val630Asp)
18g.23541377C>ACA401793734NPC1c.2302G>T (p.Val768Phe)
n.2216G>T
c.1380G>T
c.2353G>T (p.Val785Phe)
c.1888G>T (p.Val630Phe)
18g.23541377C>GCA401793735NPC1c.2302G>C (p.Val768Leu)
n.2216G>C
c.1380G>C
c.2353G>C (p.Val785Leu)
c.1888G>C (p.Val630Leu)
18g.23541377C>TCA401793736NPC1c.2302G>A (p.Val768Ile)
n.2216G>A
c.1380G>A
c.2353G>A (p.Val785Ile)
c.1888G>A (p.Val630Ile)
18g.23541377dupCA269830NPC1c.2302dup (p.Val768GlyfsTer4)
n.2216dup
c.1380dup
c.2353dup (p.Val785GlyfsTer4)
c.1888dup (p.Val630GlyfsTer4)
 ClinVar dbSNP
18g.23541378T>ACA503521801NPC1c.2301A>T (p.Ala767=)
n.2215A>T
c.1379A>T
c.2352A>T (p.Ala784=)
c.1887A>T (p.Ala629=)
18g.23541378T>CCA503521799NPC1c.2301A>G (p.Ala767=)
n.2215A>G
c.1379A>G
c.2352A>G (p.Ala784=)
c.1887A>G (p.Ala629=)
18g.23541378T>GCA503521800NPC1c.2301A>C (p.Ala767=)
n.2215A>C
c.1379A>C
c.2352A>C (p.Ala784=)
c.1887A>C (p.Ala629=)
 dbSNP
18g.23541378T=CA2290166637NPC1c.2301A= (p.Ala767=)
n.2215A=
c.1379A=
c.2352A= (p.Ala784=)
c.1887A= (p.Ala629=)
18g.23541379G>ACA401793737NPC1c.2300C>T (p.Ala767Val)
n.2214C>T
c.1378C>T
c.2351C>T (p.Ala784Val)
c.1886C>T (p.Ala629Val)
18g.23541379G>CCA8913149NPC1c.2300C>G (p.Ala767Gly)
n.2214C>G
c.1378C>G
c.2351C>G (p.Ala784Gly)
c.1886C>G (p.Ala629Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.23541379G=CA2290166638NPC1c.2300C= (p.Ala767=)
n.2214C=
c.1378C=
c.2351C= (p.Ala784=)
c.1886C= (p.Ala629=)
18g.23541379G>TCA401793738NPC1c.2300C>A (p.Ala767Glu)
n.2214C>A
c.1378C>A
c.2351C>A (p.Ala784Glu)
c.1886C>A (p.Ala629Glu)
18g.23541380C>ACA401793741NPC1c.2299G>T (p.Ala767Ser)
n.2213G>T
c.1377G>T
c.2350G>T (p.Ala784Ser)
c.1885G>T (p.Ala629Ser)
18g.23541380C>GCA401793739NPC1c.2299G>C (p.Ala767Pro)
n.2213G>C
c.1377G>C
c.2350G>C (p.Ala784Pro)
c.1885G>C (p.Ala629Pro)
18g.23541380C>TCA401793740NPC1c.2299G>A (p.Ala767Thr)
n.2213G>A
c.1377G>A
c.2350G>A (p.Ala784Thr)
c.1885G>A (p.Ala629Thr)
 gnomAD v4
18g.23541381C>ACA401793742NPC1c.2298G>T (p.Leu766Phe)
n.2212G>T
c.1376G>T
c.2349G>T (p.Leu783Phe)
c.1884G>T (p.Leu628Phe)
18g.23541381C=CA2290166639NPC1c.2298G= (p.Leu766=)
n.2212G=
c.1376G=
c.2349G= (p.Leu783=)
c.1884G= (p.Leu628=)
18g.23541381C>GCA401793743NPC1c.2298G>C (p.Leu766Phe)
n.2212G>C
c.1376G>C
c.2349G>C (p.Leu783Phe)
c.1884G>C (p.Leu628Phe)
18g.23541381C>TCA297082227NPC1c.2298G>A (p.Leu766=)
n.2212G>A
c.1376G>A
c.2349G>A (p.Leu783=)
c.1884G>A (p.Leu628=)
 dbSNP gnomAD v2 gnomAD v4
18g.23541382A=CA2290166640NPC1c.2297T= (p.Leu766=)
n.2211T=
c.1375T=
c.2348T= (p.Leu783=)
c.1883T= (p.Leu628=)
18g.23541382A>CCA401793744NPC1c.2297T>G (p.Leu766Trp)
n.2211T>G
c.1375T>G
c.2348T>G (p.Leu783Trp)
c.1883T>G (p.Leu628Trp)
18g.23541382A>GCA401793745NPC1c.2297T>C (p.Leu766Ser)
n.2211T>C
c.1375T>C
c.2348T>C (p.Leu783Ser)
c.1883T>C (p.Leu628Ser)
18g.23541382A>TCA401793746NPC1c.2297T>A (p.Leu766Ter)
n.2211T>A
c.1375T>A
c.2348T>A (p.Leu783Ter)
c.1883T>A (p.Leu628Ter)
 ClinVar dbSNP
18g.23541383A=CA2290166641NPC1c.2296T= (p.Leu766=)
n.2210T=
c.1374T=
c.2347T= (p.Leu783=)
c.1882T= (p.Leu628=)
18g.23541383A>CCA401793747NPC1c.2296T>G (p.Leu766Val)
n.2210T>G
c.1374T>G
c.2347T>G (p.Leu783Val)
c.1882T>G (p.Leu628Val)
 gnomAD v4
18g.23541383A>GCA503521803NPC1c.2296T>C (p.Leu766=)
n.2210T>C
c.1374T>C
c.2347T>C (p.Leu783=)
c.1882T>C (p.Leu628=)
 ClinVar dbSNP gnomAD v4
18g.23541383A>TCA401793748NPC1c.2296T>A (p.Leu766Met)
n.2210T>A
c.1374T>A
c.2347T>A (p.Leu783Met)
c.1882T>A (p.Leu628Met)
18g.23541384T>ACA503521804NPC1c.2295A>T (p.Gly765=)
n.2209A>T
c.1373A>T
c.2346A>T (p.Gly782=)
c.1881A>T (p.Gly627=)
18g.23541384T>CCA503521806NPC1c.2295A>G (p.Gly765=)
n.2209A>G
c.1373A>G
c.2346A>G (p.Gly782=)
c.1881A>G (p.Gly627=)
18g.23541384T>GCA503521808NPC1c.2295A>C (p.Gly765=)
n.2209A>C
c.1373A>C
c.2346A>C (p.Gly782=)
c.1881A>C (p.Gly627=)
18g.23541385C>ACA401793749NPC1c.2294G>T (p.Gly765Val)
n.2208G>T
c.1372G>T
c.2345G>T (p.Gly782Val)
c.1880G>T (p.Gly627Val)
 gnomAD v4
18g.23541385C>GCA401793750NPC1c.2294G>C (p.Gly765Ala)
n.2208G>C
c.1372G>C
c.2345G>C (p.Gly782Ala)
c.1880G>C (p.Gly627Ala)
18g.23541385C>TCA401793751NPC1c.2294G>A (p.Gly765Glu)
n.2208G>A
c.1372G>A
c.2345G>A (p.Gly782Glu)
c.1880G>A (p.Gly627Glu)
18g.23541386C>ACA401793754NPC1c.2293G>T (p.Gly765Ter)
n.2207G>T
c.1371G>T
c.2344G>T (p.Gly782Ter)
c.1879G>T (p.Gly627Ter)
18g.23541386C=CA2290166642NPC1c.2293G= (p.Gly765=)
n.2207G=
c.1371G=
c.2344G= (p.Gly782=)
c.1879G= (p.Gly627=)
18g.23541386C>GCA401793753NPC1c.2293G>C (p.Gly765Arg)
n.2207G>C
c.1371G>C
c.2344G>C (p.Gly782Arg)
c.1879G>C (p.Gly627Arg)
18g.23541386C>TCA401793752NPC1c.2293G>A (p.Gly765Arg)
n.2207G>A
c.1371G>A
c.2344G>A (p.Gly782Arg)
c.1879G>A (p.Gly627Arg)
 dbSNP
18g.23541387C>ACA503521810NPC1c.2292G>T (p.Ala764=)
n.2206G>T
c.1370G>T
c.2343G>T (p.Ala781=)
c.1878G>T (p.Ala626=)
 COSMIC
18g.23541387C=CA2290166643NPC1c.2292G= (p.Ala764=)
n.2206G=
c.1370G=
c.2343G= (p.Ala781=)
c.1878G= (p.Ala626=)
18g.23541387C>GCA503521811NPC1c.2292G>C (p.Ala764=)
n.2206G>C
c.1370G>C
c.2343G>C (p.Ala781=)
c.1878G>C (p.Ala626=)
18g.23541387C>TCA8913150NPC1c.2292G>A (p.Ala764=)
n.2206G>A
c.1370G>A
c.2343G>A (p.Ala781=)
c.1878G>A (p.Ala626=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23541388G>ACA8913151NPC1c.2291C>T (p.Ala764Val)
n.2205C>T
c.1369C>T
c.2342C>T (p.Ala781Val)
c.1877C>T (p.Ala626Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.23541388G>CCA401793755NPC1c.2291C>G (p.Ala764Gly)
n.2205C>G
c.1369C>G
c.2342C>G (p.Ala781Gly)
c.1877C>G (p.Ala626Gly)
18g.23541388G=CA2290166644NPC1c.2291C= (p.Ala764=)
n.2205C=
c.1369C=
c.2342C= (p.Ala781=)
c.1877C= (p.Ala626=)
18g.23541388G>TCA401793756NPC1c.2291C>A (p.Ala764Glu)
n.2205C>A
c.1369C>A
c.2342C>A (p.Ala781Glu)
c.1877C>A (p.Ala626Glu)
 ClinVar
18g.23541389C>ACA401793757NPC1c.2290G>T (p.Ala764Ser)
n.2204G>T
c.1368G>T
c.2341G>T (p.Ala781Ser)
c.1876G>T (p.Ala626Ser)
 ClinVar gnomAD v4
18g.23541389C>GCA401793758NPC1c.2290G>C (p.Ala764Pro)
n.2204G>C
c.1368G>C
c.2341G>C (p.Ala781Pro)
c.1876G>C (p.Ala626Pro)
18g.23541389C>TCA401793759NPC1c.2290G>A (p.Ala764Thr)
n.2204G>A
c.1368G>A
c.2341G>A (p.Ala781Thr)
c.1876G>A (p.Ala626Thr)
18g.23541390A=CA2290166645NPC1c.2289T= (p.Phe763=)
n.2203T=
c.1367T=
c.2340T= (p.Phe780=)
c.1875T= (p.Phe625=)
18g.23541390A>CCA401793760NPC1c.2289T>G (p.Phe763Leu)
n.2203T>G
c.1367T>G
c.2340T>G (p.Phe780Leu)
c.1875T>G (p.Phe625Leu)
18g.23541390A>GCA503521812NPC1c.2289T>C (p.Phe763=)
n.2203T>C
c.1367T>C
c.2340T>C (p.Phe780=)
c.1875T>C (p.Phe625=)
 ClinVar dbSNP gnomAD v4
18g.23541390A>TCA401793761NPC1c.2289T>A (p.Phe763Leu)
n.2203T>A
c.1367T>A
c.2340T>A (p.Phe780Leu)
c.1875T>A (p.Phe625Leu)
18g.23541391_23541394delCA2739268609NPC1c.2286_2289del (p.Phe763ArgfsTer17)
n.2200_2203del
c.1364_1367del
c.2337_2340del (p.Phe780ArgfsTer17)
c.1872_1875del (p.Phe625ArgfsTer17)
 ClinVar
18g.23541391A=CA2290166646NPC1c.2288T= (p.Phe763=)
n.2202T=
c.1366T=
c.2339T= (p.Phe780=)
c.1874T= (p.Phe625=)
18g.23541391A>CCA401793762NPC1c.2288T>G (p.Phe763Cys)
n.2202T>G
c.1366T>G
c.2339T>G (p.Phe780Cys)
c.1874T>G (p.Phe625Cys)
18g.23541391A>GCA8913152NPC1c.2288T>C (p.Phe763Ser)
n.2202T>C
c.1366T>C
c.2339T>C (p.Phe780Ser)
c.1874T>C (p.Phe625Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.23541391A>TCA401793763NPC1c.2288T>A (p.Phe763Tyr)
n.2202T>A
c.1366T>A
c.2339T>A (p.Phe780Tyr)
c.1874T>A (p.Phe625Tyr)
18g.23541391_23541393delinsAAGCA2290166647NPC1c.2286_2288delinsCTT (p.Leu762=)
n.2200_2202delinsCTT
c.1364_1366delinsCTT
c.2337_2339delinsCTT (p.Leu779=)
c.1872_1874delinsCTT (p.Leu624=)
18g.23541392A>CCA401793766NPC1c.2287T>G (p.Phe763Val)
n.2201T>G
c.1365T>G
c.2338T>G (p.Phe780Val)
c.1873T>G (p.Phe625Val)
18g.23541392A>GCA401793764NPC1c.2287T>C (p.Phe763Leu)
n.2201T>C
c.1365T>C
c.2338T>C (p.Phe780Leu)
c.1873T>C (p.Phe625Leu)
18g.23541392A>TCA401793765NPC1c.2287T>A (p.Phe763Ile)
n.2201T>A
c.1365T>A
c.2338T>A (p.Phe780Ile)
c.1873T>A (p.Phe625Ile)
18g.23541399_23541400delCA16043032NPC1c.2286_2287del (p.Phe763CysfsTer8)
n.2200_2201del
c.1364_1365del
c.2337_2338del (p.Phe780CysfsTer8)
c.1872_1873del (p.Phe625CysfsTer8)
 ClinVar dbSNP COSMIC COSMIC
18g.23541397_23541400delCA2576470840NPC1c.2284_2287del (p.Phe763ArgfsTer17)
n.2198_2201del
c.1362_1365del
c.2335_2338del (p.Phe780ArgfsTer17)
c.1870_1873del (p.Phe625ArgfsTer17)
18g.23541393G>ACA8913153NPC1c.2286C>T (p.Leu762=)
n.2200C>T
c.1364C>T
c.2337C>T (p.Leu779=)
c.1872C>T (p.Leu624=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.23541393G>CCA503521817NPC1c.2286C>G (p.Leu762=)
n.2200C>G
c.1364C>G
c.2337C>G (p.Leu779=)
c.1872C>G (p.Leu624=)
18g.23541393G=CA2290166648NPC1c.2286C= (p.Leu762=)
n.2200C=
c.1364C=
c.2337C= (p.Leu779=)
c.1872C= (p.Leu624=)
18g.23541393G>TCA503521818NPC1c.2286C>A (p.Leu762=)
n.2200C>A
c.1364C>A
c.2337C>A (p.Leu779=)
c.1872C>A (p.Leu624=)
18g.23541394A>CCA401793767NPC1c.2285T>G (p.Leu762Arg)
n.2199T>G
c.1363T>G
c.2336T>G (p.Leu779Arg)
c.1871T>G (p.Leu624Arg)
18g.23541394A>GCA401793768NPC1c.2285T>C (p.Leu762Pro)
n.2199T>C
c.1363T>C
c.2336T>C (p.Leu779Pro)
c.1871T>C (p.Leu624Pro)
18g.23541394A>TCA401793769NPC1c.2285T>A (p.Leu762His)
n.2199T>A
c.1363T>A
c.2336T>A (p.Leu779His)
c.1871T>A (p.Leu624His)
18g.23541395G>ACA401793770NPC1c.2284C>T (p.Leu762Phe)
n.2198C>T
c.1362C>T
c.2335C>T (p.Leu779Phe)
c.1870C>T (p.Leu624Phe)
18g.23541395G>CCA401793771NPC1c.2284C>G (p.Leu762Val)
n.2198C>G
c.1362C>G
c.2335C>G (p.Leu779Val)
c.1870C>G (p.Leu624Val)
18g.23541395G>TCA401793772NPC1c.2284C>A (p.Leu762Ile)
n.2198C>A
c.1362C>A
c.2335C>A (p.Leu779Ile)
c.1870C>A (p.Leu624Ile)
18g.23541396A>CCA503521819NPC1c.2283T>G (p.Ser761=)
n.2197T>G
c.1361T>G
c.2334T>G (p.Ser778=)
c.1869T>G (p.Ser623=)
18g.23541396A>GCA503521820NPC1c.2283T>C (p.Ser761=)
n.2197T>C
c.1361T>C
c.2334T>C (p.Ser778=)
c.1869T>C (p.Ser623=)
18g.23541396A>TCA503521821NPC1c.2283T>A (p.Ser761=)
n.2197T>A
c.1361T>A
c.2334T>A (p.Ser778=)
c.1869T>A (p.Ser623=)
18g.23541397G>ACA401793773NPC1c.2282C>T (p.Ser761Phe)
n.2196C>T
c.1360C>T
c.2333C>T (p.Ser778Phe)
c.1868C>T (p.Ser623Phe)
18g.23541397G>CCA401793774NPC1c.2282C>G (p.Ser761Cys)
n.2196C>G
c.1360C>G
c.2333C>G (p.Ser778Cys)
c.1868C>G (p.Ser623Cys)
18g.23541397G>TCA401793775NPC1c.2282C>A (p.Ser761Tyr)
n.2196C>A
c.1360C>A
c.2333C>A (p.Ser778Tyr)
c.1868C>A (p.Ser623Tyr)
18g.23541397_23541400delinsGAGACA2290166649NPC1c.2279_2282delinsTCTC (p.Phe760=)
n.2193_2196delinsTCTC
c.1357_1360delinsTCTC
c.2330_2333delinsTCTC (p.Phe777=)
c.1865_1868delinsTCTC (p.Phe622=)
18g.23541398A=CA2290166651NPC1c.2281T= (p.Ser761=)
n.2195T=
c.1359T=
c.2332T= (p.Ser778=)
c.1867T= (p.Ser623=)
18g.23541398A>CCA401793778NPC1c.2281T>G (p.Ser761Ala)
n.2195T>G
c.1359T>G
c.2332T>G (p.Ser778Ala)
c.1867T>G (p.Ser623Ala)
18g.23541398A>GCA401793777NPC1c.2281T>C (p.Ser761Pro)
n.2195T>C
c.1359T>C
c.2332T>C (p.Ser778Pro)
c.1867T>C (p.Ser623Pro)
 dbSNP
18g.23541398A>TCA401793776NPC1c.2281T>A (p.Ser761Thr)
n.2195T>A
c.1359T>A
c.2332T>A (p.Ser778Thr)
c.1867T>A (p.Ser623Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.23541400_23541402delCA2290166650NPC1c.2279_2281del (p.Phe760del)
n.2193_2195del
c.1357_1359del
c.2330_2332del (p.Phe777del)
c.1865_1867del (p.Phe622del)
 ClinVar dbSNP
18g.23541399G>ACA503521822NPC1c.2280C>T (p.Phe760=)
n.2194C>T
c.1358C>T
c.2331C>T (p.Phe777=)
c.1866C>T (p.Phe622=)
 gnomAD v4 COSMIC COSMIC
18g.23541399G>CCA401793779NPC1c.2280C>G (p.Phe760Leu)
n.2194C>G
c.1358C>G
c.2331C>G (p.Phe777Leu)
c.1866C>G (p.Phe622Leu)
18g.23541399G>TCA401793780NPC1c.2280C>A (p.Phe760Leu)
n.2194C>A
c.1358C>A
c.2331C>A (p.Phe777Leu)
c.1866C>A (p.Phe622Leu)
18g.23541400A>CCA401793781NPC1c.2279T>G (p.Phe760Cys)
n.2193T>G
c.1357T>G
c.2330T>G (p.Phe777Cys)
c.1865T>G (p.Phe622Cys)
18g.23541400A>GCA401793782NPC1c.2279T>C (p.Phe760Ser)
n.2193T>C
c.1357T>C
c.2330T>C (p.Phe777Ser)
c.1865T>C (p.Phe622Ser)
 gnomAD v4
18g.23541400A>TCA401793783NPC1c.2279T>A (p.Phe760Tyr)
n.2193T>A
c.1357T>A
c.2330T>A (p.Phe777Tyr)
c.1865T>A (p.Phe622Tyr)
18g.23541401A>CCA401793784NPC1c.2278T>G (p.Phe760Val)
n.2192T>G
c.1356T>G
c.2329T>G (p.Phe777Val)
c.1864T>G (p.Phe622Val)
18g.23541401A>GCA401793785NPC1c.2278T>C (p.Phe760Leu)
n.2192T>C
c.1356T>C
c.2329T>C (p.Phe777Leu)
c.1864T>C (p.Phe622Leu)
 gnomAD v4
18g.23541401A>TCA401793786NPC1c.2278T>A (p.Phe760Ile)
n.2192T>A
c.1356T>A
c.2329T>A (p.Phe777Ile)
c.1864T>A (p.Phe622Ile)
18g.23541402G>ACA503521823NPC1c.2277C>T (p.Thr759=)
n.2191C>T
c.1355C>T
c.2328C>T (p.Thr776=)
c.1863C>T (p.Thr621=)
 gnomAD v4
18g.23541402G>CCA503521824NPC1c.2277C>G (p.Thr759=)
n.2191C>G
c.1355C>G
c.2328C>G (p.Thr776=)
c.1863C>G (p.Thr621=)
18g.23541402G>TCA503521825NPC1c.2277C>A (p.Thr759=)
n.2191C>A
c.1355C>A
c.2328C>A (p.Thr776=)
c.1863C>A (p.Thr621=)
18g.23541403G>ACA401793787NPC1c.2276C>T (p.Thr759Ile)
n.2190C>T
c.1354C>T
c.2327C>T (p.Thr776Ile)
c.1862C>T (p.Thr621Ile)
18g.23541403G>CCA401793788NPC1c.2276C>G (p.Thr759Ser)
n.2190C>G
c.1354C>G
c.2327C>G (p.Thr776Ser)
c.1862C>G (p.Thr621Ser)
18g.23541403G>TCA401793789NPC1c.2276C>A (p.Thr759Asn)
n.2190C>A
c.1354C>A
c.2327C>A (p.Thr776Asn)
c.1862C>A (p.Thr621Asn)
18g.23541404T>ACA401793790NPC1c.2275A>T (p.Thr759Ser)
n.2189A>T
c.1353A>T
c.2326A>T (p.Thr776Ser)
c.1861A>T (p.Thr621Ser)
18g.23541404T>CCA8913154NPC1c.2275A>G (p.Thr759Ala)
n.2189A>G
c.1353A>G
c.2326A>G (p.Thr776Ala)
c.1861A>G (p.Thr621Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23541404T>GCA401793791NPC1c.2275A>C (p.Thr759Pro)
n.2189A>C
c.1353A>C
c.2326A>C (p.Thr776Pro)
c.1861A>C (p.Thr621Pro)
18g.23541404T=CA2290166652NPC1c.2275A= (p.Thr759=)
n.2189A=
c.1353A=
c.2326A= (p.Thr776=)
c.1861A= (p.Thr621=)
18g.23541405G>ACA503521826NPC1c.2274C>T (p.His758=)
n.2188C>T
c.1352C>T
c.2325C>T (p.His775=)
c.1860C>T (p.His620=)
 ClinVar
18g.23541405G>CCA401793793NPC1c.2274C>G (p.His758Gln)
n.2188C>G
c.1352C>G
c.2325C>G (p.His775Gln)
c.1860C>G (p.His620Gln)
18g.23541405G>TCA401793792NPC1c.2274C>A (p.His758Gln)
n.2188C>A
c.1352C>A
c.2325C>A (p.His775Gln)
c.1860C>A (p.His620Gln)
18g.23541406T>ACA401793794NPC1c.2273A>T (p.His758Leu)
n.2187A>T
c.1351A>T
c.2324A>T (p.His775Leu)
c.1859A>T (p.His620Leu)
18g.23541406T>CCA401793795NPC1c.2273A>G (p.His758Arg)
n.2187A>G
c.1351A>G
c.2324A>G (p.His775Arg)
c.1859A>G (p.His620Arg)
18g.23541406T>GCA401793796NPC1c.2273A>C (p.His758Pro)
n.2187A>C
c.1351A>C
c.2324A>C (p.His775Pro)
c.1859A>C (p.His620Pro)
18g.23541407G>ACA8913155NPC1c.2272C>T (p.His758Tyr)
n.2186C>T
c.1350C>T
c.2323C>T (p.His775Tyr)
c.1858C>T (p.His620Tyr)
 dbSNP ExAC gnomAD v4
18g.23541407G>CCA401793797NPC1c.2272C>G (p.His758Asp)
n.2186C>G
c.1350C>G
c.2323C>G (p.His775Asp)
c.1858C>G (p.His620Asp)
18g.23541407G=CA2290166653NPC1c.2272C= (p.His758=)
n.2186C=
c.1350C=
c.2323C= (p.His775=)
c.1858C= (p.His620=)
18g.23541407G>TCA401793798NPC1c.2272C>A (p.His758Asn)
n.2186C>A
c.1350C>A
c.2323C>A (p.His775Asn)
c.1858C>A (p.His620Asn)
18g.23541408C>ACA503521827NPC1c.2271G>T (p.Val757=)
n.2185G>T
c.1349G>T
c.2322G>T (p.Val774=)
c.1857G>T (p.Val619=)
18g.23541408C>GCA503521828NPC1c.2271G>C (p.Val757=)
n.2185G>C
c.1349G>C
c.2322G>C (p.Val774=)
c.1857G>C (p.Val619=)
18g.23541408C>TCA503521829NPC1c.2271G>A (p.Val757=)
n.2185G>A
c.1349G>A
c.2322G>A (p.Val774=)
c.1857G>A (p.Val619=)
18g.23541409A>CCA401793799NPC1c.2270T>G (p.Val757Gly)
n.2184T>G
c.1348T>G
c.2321T>G (p.Val774Gly)
c.1856T>G (p.Val619Gly)
18g.23541409A>GCA401793800NPC1c.2270T>C (p.Val757Ala)
n.2184T>C
c.1348T>C
c.2321T>C (p.Val774Ala)
c.1856T>C (p.Val619Ala)
 gnomAD v4
18g.23541409A>TCA401793801NPC1c.2270T>A (p.Val757Glu)
n.2184T>A
c.1348T>A
c.2321T>A (p.Val774Glu)
c.1856T>A (p.Val619Glu)
18g.23541410C>ACA401793802NPC1c.2269G>T (p.Val757Leu)
n.2183G>T
c.1347G>T
c.2320G>T (p.Val774Leu)
c.1855G>T (p.Val619Leu)
 gnomAD v4
18g.23541410C=CA2290166654NPC1c.2269G= (p.Val757=)
n.2183G=
c.1347G=
c.2320G= (p.Val774=)
c.1855G= (p.Val619=)
18g.23541410C>GCA401793803NPC1c.2269G>C (p.Val757Leu)
n.2183G>C
c.1347G>C
c.2320G>C (p.Val774Leu)
c.1855G>C (p.Val619Leu)
18g.23541410C>TCA8913156NPC1c.2269G>A (p.Val757Met)
n.2183G>A
c.1347G>A
c.2320G>A (p.Val774Met)
c.1855G>A (p.Val619Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23541411G>ACA8913157NPC1c.2268C>T (p.Ala756=)
n.2182C>T
c.1346C>T
c.2319C>T (p.Ala773=)
c.1854C>T (p.Ala618=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23541411G>CCA503521831NPC1c.2268C>G (p.Ala756=)
n.2182C>G
c.1346C>G
c.2319C>G (p.Ala773=)
c.1854C>G (p.Ala618=)
 dbSNP
18g.23541411G=CA2290166655NPC1c.2268C= (p.Ala756=)
n.2182C=
c.1346C=
c.2319C= (p.Ala773=)
c.1854C= (p.Ala618=)
18g.23541411G>TCA503521830NPC1c.2268C>A (p.Ala756=)
n.2182C>A
c.1346C>A
c.2319C>A (p.Ala773=)
c.1854C>A (p.Ala618=)
18g.23541412delCA2641274764NPC1c.2268del (p.Val757CysfsTer24)
n.2182del
c.1346del
c.2319del (p.Val774CysfsTer24)
c.1854del (p.Val619CysfsTer24)
 gnomAD v4
18g.23541412G>ACA401793804NPC1c.2267C>T (p.Ala756Val)
n.2181C>T
c.1345C>T
c.2318C>T (p.Ala773Val)
c.1853C>T (p.Ala618Val)
 dbSNP gnomAD v4
18g.23541412G>CCA401793805NPC1c.2267C>G (p.Ala756Gly)
n.2181C>G
c.1345C>G
c.2318C>G (p.Ala773Gly)
c.1853C>G (p.Ala618Gly)
18g.23541412G=CA2290166656NPC1c.2267C= (p.Ala756=)
n.2181C=
c.1345C=
c.2318C= (p.Ala773=)
c.1853C= (p.Ala618=)
18g.23541412G>TCA8913158NPC1c.2267C>A (p.Ala756Asp)
n.2181C>A
c.1345C>A
c.2318C>A (p.Ala773Asp)
c.1853C>A (p.Ala618Asp)
 dbSNP ExAC gnomAD v2
18g.23541413C>ACA401793806NPC1c.2266G>T (p.Ala756Ser)
n.2180G>T
c.1344G>T
c.2317G>T (p.Ala773Ser)
c.1852G>T (p.Ala618Ser)
18g.23541413C>GCA401793807NPC1c.2266G>C (p.Ala756Pro)
n.2180G>C
c.1344G>C
c.2317G>C (p.Ala773Pro)
c.1852G>C (p.Ala618Pro)
18g.23541413C>TCA401793808NPC1c.2266G>A (p.Ala756Thr)
n.2180G>A
c.1344G>A
c.2317G>A (p.Ala773Thr)
c.1852G>A (p.Ala618Thr)
18g.23541414T>ACA503521832NPC1c.2265A>T (p.Pro755=)
n.2179A>T
c.1343A>T
c.2316A>T (p.Pro772=)
c.1851A>T (p.Pro617=)
18g.23541414T>CCA503521833NPC1c.2265A>G (p.Pro755=)
n.2179A>G
c.1343A>G
c.2316A>G (p.Pro772=)
c.1851A>G (p.Pro617=)
18g.23541414T>GCA503521834NPC1c.2265A>C (p.Pro755=)
n.2179A>C
c.1343A>C
c.2316A>C (p.Pro772=)
c.1851A>C (p.Pro617=)

Number of alleles fetched