Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.23540376_23540440delinsTGCATGTTTTGAAAAATGTATTCATCATCAGCTAAAGAAGTTAAAAAAAAAAAAAAAAGGAAGTCCA2290166182NPC1c.2604+8_2604+72delinsGACTTCCTTTTTTTTTTTTTTTTAACTTCTTTAGCTGATGATGAATACATTTTTCAAAACATGCA (n.2604+8_2604+72delinsGACTTCCTTTTTTTTTTTTTTTTAACTTCTTTAGCTGATGATGAATACATTTTTCAAAACATGCA)
n.2518+8_2518+72delinsGACTTCCTTTTTTTTTTTTTTTTAACTTCTTTAGCTGATGATGAATACATTTTTCAAAACATGCA
n.395+8_395+72delinsGACTTCCTTTTTTTTTTTTTTTTAACTTCTTTAGCTGATGATGAATACATTTTTCAAAACATGCA
c.1682+8_1682+72delinsGACTTCCTTTTTTTTTTTTTTTTAACTTCTTTAGCTGATGATGAATACATTTTTCAAAACATGCA
c.2655+8_2655+72delinsGACTTCCTTTTTTTTTTTTTTTTAACTTCTTTAGCTGATGATGAATACATTTTTCAAAACATGCA (n.2655+8_2655+72delinsGACTTCCTTTTTTTTTTTTTTTTAACTTCTTTAGCTGATGATGAATACATTTTTCAAAACATGCA)
c.2190+8_2190+72delinsGACTTCCTTTTTTTTTTTTTTTTAACTTCTTTAGCTGATGATGAATACATTTTTCAAAACATGCA (n.2190+8_2190+72delinsGACTTCCTTTTTTTTTTTTTTTTAACTTCTTTAGCTGATGATGAATACATTTTTCAAAACATGCA)
18g.23540377_23540440delCA916083638NPC1c.2604+8_2604+71del (n.2604+8_2604+71del)
n.2518+8_2518+71del
n.395+8_395+71del
c.1682+8_1682+71del
c.2655+8_2655+71del (n.2655+8_2655+71del)
c.2190+8_2190+71del (n.2190+8_2190+71del)
 ClinVar dbSNP gnomAD v4
18g.23540401_23540410delinsCATCAGCTAACA2290166191NPC1c.2604+38_2604+47delinsTTAGCTGATG (n.2604+38_2604+47delinsTTAGCTGATG)
n.2518+38_2518+47delinsTTAGCTGATG
n.395+38_395+47delinsTTAGCTGATG
c.1682+38_1682+47delinsTTAGCTGATG
c.2655+38_2655+47delinsTTAGCTGATG (n.2655+38_2655+47delinsTTAGCTGATG)
c.2190+38_2190+47delinsTTAGCTGATG (n.2190+38_2190+47delinsTTAGCTGATG)
18g.23540402_23540407delinsATCAGCCA2290166192NPC1c.2604+41_2604+46delinsGCTGAT (n.2604+41_2604+46delinsGCTGAT)
n.2518+41_2518+46delinsGCTGAT
n.395+41_395+46delinsGCTGAT
c.1682+41_1682+46delinsGCTGAT
c.2655+41_2655+46delinsGCTGAT (n.2655+41_2655+46delinsGCTGAT)
c.2190+41_2190+46delinsGCTGAT (n.2190+41_2190+46delinsGCTGAT)
18g.23540403_23540411delCA2290166193NPC1c.2604+38_2604+46del (n.2604+38_2604+46del)
n.2518+38_2518+46del
n.395+38_395+46del
c.1682+38_1682+46del
c.2655+38_2655+46del (n.2655+38_2655+46del)
c.2190+38_2190+46del (n.2190+38_2190+46del)
 dbSNP gnomAD v4
18g.23540404_23540408delCA628677954NPC1c.2604+41_2604+45del (n.2604+41_2604+45del)
n.2518+41_2518+45del
n.395+41_395+45del
c.1682+41_1682+45del
c.2655+41_2655+45del (n.2655+41_2655+45del)
c.2190+41_2190+45del (n.2190+41_2190+45del)
 dbSNP gnomAD v2
18g.23540406_23540407delCA988381978NPC1c.2604+41_2604+42del (n.2604+41_2604+42del)
n.2518+41_2518+42del
n.395+41_395+42del
c.1682+41_1682+42del
c.2655+41_2655+42del (n.2655+41_2655+42del)
c.2190+41_2190+42del (n.2190+41_2190+42del)
 gnomAD v3 gnomAD v4
18g.23540406_23540408delCA988381979NPC1c.2604+40_2604+42del (n.2604+40_2604+42del)
n.2518+40_2518+42del
n.395+40_395+42del
c.1682+40_1682+42del
c.2655+40_2655+42del (n.2655+40_2655+42del)
c.2190+40_2190+42del (n.2190+40_2190+42del)
 gnomAD v3 gnomAD v4
18g.23540407C>ACA988381980NPC1c.2604+41G>T (n.2604+41G>T)
n.2518+41G>T
n.395+41G>T
c.1682+41G>T
c.2655+41G>T (n.2655+41G>T)
c.2190+41G>T (n.2190+41G>T)
 gnomAD v3 gnomAD v4
18g.23540408T>ACA777720730NPC1c.2604+40A>T (n.2604+40A>T)
n.2518+40A>T
n.395+40A>T
c.1682+40A>T
c.2655+40A>T (n.2655+40A>T)
c.2190+40A>T (n.2190+40A>T)
 dbSNP gnomAD v3 gnomAD v4
18g.23540408T>CCA2641274139NPC1c.2604+40A>G (n.2604+40A>G)
n.2518+40A>G
n.395+40A>G
c.1682+40A>G
c.2655+40A>G (n.2655+40A>G)
c.2190+40A>G (n.2190+40A>G)
 gnomAD v4
18g.23540408T=CA2290166196NPC1c.2604+40A= (n.2604+40A=)
n.2518+40A=
n.395+40A=
c.1682+40A=
c.2655+40A= (n.2655+40A=)
c.2190+40A= (n.2190+40A=)
18g.23540409A=CA2290166198NPC1c.2604+39T= (n.2604+39T=)
n.2518+39T=
n.395+39T=
c.1682+39T=
c.2655+39T= (n.2655+39T=)
c.2190+39T= (n.2190+39T=)
18g.23540409A>CCA2641274144NPC1c.2604+39T>G (n.2604+39T>G)
n.2518+39T>G
n.395+39T>G
c.1682+39T>G
c.2655+39T>G (n.2655+39T>G)
c.2190+39T>G (n.2190+39T>G)
 gnomAD v4
18g.23540409A>GCA628677956NPC1c.2604+39T>C (n.2604+39T>C)
n.2518+39T>C
n.395+39T>C
c.1682+39T>C
c.2655+39T>C (n.2655+39T>C)
c.2190+39T>C (n.2190+39T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23540409A>TCA2641274146NPC1c.2604+39T>A (n.2604+39T>A)
n.2518+39T>A
n.395+39T>A
c.1682+39T>A
c.2655+39T>A (n.2655+39T>A)
c.2190+39T>A (n.2190+39T>A)
 gnomAD v4
18g.23540411dupCA2811805091NPC1c.2604+39dup (n.2604+39dup)
n.2518+39dup
n.395+39dup
c.1682+39dup
c.2655+39dup (n.2655+39dup)
c.2190+39dup (n.2190+39dup)
18g.23540411delCA2576470715NPC1c.2604+39del (n.2604+39del)
n.2518+39del
n.395+39del
c.1682+39del
c.2655+39del (n.2655+39del)
c.2190+39del (n.2190+39del)
 gnomAD v4
18g.23540409_23540412delinsAAAGCA2290166197NPC1c.2604+36_2604+39delinsCTTT (n.2604+36_2604+39delinsCTTT)
n.2518+36_2518+39delinsCTTT
n.395+36_395+39delinsCTTT
c.1682+36_1682+39delinsCTTT
c.2655+36_2655+39delinsCTTT (n.2655+36_2655+39delinsCTTT)
c.2190+36_2190+39delinsCTTT (n.2190+36_2190+39delinsCTTT)
18g.23540410A>GCA2641274147NPC1c.2604+38T>C (n.2604+38T>C)
n.2518+38T>C
n.395+38T>C
c.1682+38T>C
c.2655+38T>C (n.2655+38T>C)
c.2190+38T>C (n.2190+38T>C)
 gnomAD v4
18g.23540413_23540415delCA628677957NPC1c.2604+36_2604+38del (n.2604+36_2604+38del)
n.2518+36_2518+38del
n.395+36_395+38del
c.1682+36_1682+38del
c.2655+36_2655+38del (n.2655+36_2655+38del)
c.2190+36_2190+38del (n.2190+36_2190+38del)
 dbSNP gnomAD v2 gnomAD v4
18g.23540411A>GCA2641274148NPC1c.2604+37T>C (n.2604+37T>C)
n.2518+37T>C
n.395+37T>C
c.1682+37T>C
c.2655+37T>C (n.2655+37T>C)
c.2190+37T>C (n.2190+37T>C)
 gnomAD v4
18g.23540411A>TCA2641274149NPC1c.2604+37T>A (n.2604+37T>A)
n.2518+37T>A
n.395+37T>A
c.1682+37T>A
c.2655+37T>A (n.2655+37T>A)
c.2190+37T>A (n.2190+37T>A)
 gnomAD v4
18g.23540412delCA2811805092NPC1c.2604+36del (n.2604+36del)
n.2518+36del
n.395+36del
c.1682+36del
c.2655+36del (n.2655+36del)
c.2190+36del (n.2190+36del)
18g.23540412G>ACA8913029NPC1c.2604+36C>T (n.2604+36C>T)
n.2518+36C>T
n.395+36C>T
c.1682+36C>T
c.2655+36C>T (n.2655+36C>T)
c.2190+36C>T (n.2190+36C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23540412G>CCA2641274150NPC1c.2604+36C>G (n.2604+36C>G)
n.2518+36C>G
n.395+36C>G
c.1682+36C>G
c.2655+36C>G (n.2655+36C>G)
c.2190+36C>G (n.2190+36C>G)
 gnomAD v4
18g.23540412G=CA2290166199NPC1c.2604+36C= (n.2604+36C=)
n.2518+36C=
n.395+36C=
c.1682+36C=
c.2655+36C= (n.2655+36C=)
c.2190+36C= (n.2190+36C=)
18g.23540412G>TCA2290166200NPC1c.2604+36C>A (n.2604+36C>A)
n.2518+36C>A
n.395+36C>A
c.1682+36C>A
c.2655+36C>A (n.2655+36C>A)
c.2190+36C>A (n.2190+36C>A)
 dbSNP gnomAD v4
18g.23540412_23540417delCA988381981NPC1c.2604+31_2604+36del (n.2604+31_2604+36del)
n.2518+31_2518+36del
n.395+31_395+36del
c.1682+31_1682+36del
c.2655+31_2655+36del (n.2655+31_2655+36del)
c.2190+31_2190+36del (n.2190+31_2190+36del)
 gnomAD v3 gnomAD v4
18g.23540413A=CA2290166201NPC1c.2604+35T= (n.2604+35T=)
n.2518+35T=
n.395+35T=
c.1682+35T=
c.2655+35T= (n.2655+35T=)
c.2190+35T= (n.2190+35T=)
18g.23540413A>TCA8913030NPC1c.2604+35T>A (n.2604+35T>A)
n.2518+35T>A
n.395+35T>A
c.1682+35T>A
c.2655+35T>A (n.2655+35T>A)
c.2190+35T>A (n.2190+35T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23540414A>GCA2641274151NPC1c.2604+34T>C (n.2604+34T>C)
n.2518+34T>C
n.395+34T>C
c.1682+34T>C
c.2655+34T>C (n.2655+34T>C)
c.2190+34T>C (n.2190+34T>C)
 gnomAD v4
18g.23540414A>TCA2576470716NPC1c.2604+34T>A (n.2604+34T>A)
n.2518+34T>A
n.395+34T>A
c.1682+34T>A
c.2655+34T>A (n.2655+34T>A)
c.2190+34T>A (n.2190+34T>A)
 gnomAD v4
18g.23540415delCA2641274153NPC1c.2604+33del (n.2604+33del)
n.2518+33del
n.395+33del
c.1682+33del
c.2655+33del (n.2655+33del)
c.2190+33del (n.2190+33del)
 gnomAD v4
18g.23540415G>ACA628677960NPC1c.2604+33C>T (n.2604+33C>T)
n.2518+33C>T
n.395+33C>T
c.1682+33C>T
c.2655+33C>T (n.2655+33C>T)
c.2190+33C>T (n.2190+33C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23540415G>CCA628677961NPC1c.2604+33C>G (n.2604+33C>G)
n.2518+33C>G
n.395+33C>G
c.1682+33C>G
c.2655+33C>G (n.2655+33C>G)
c.2190+33C>G (n.2190+33C>G)
 dbSNP gnomAD v2 gnomAD v4
18g.23540415G=CA2290166202NPC1c.2604+33C= (n.2604+33C=)
n.2518+33C=
n.395+33C=
c.1682+33C=
c.2655+33C= (n.2655+33C=)
c.2190+33C= (n.2190+33C=)
18g.23540415G>TCA988381983NPC1c.2604+33C>A (n.2604+33C>A)
n.2518+33C>A
n.395+33C>A
c.1682+33C>A
c.2655+33C>A (n.2655+33C>A)
c.2190+33C>A (n.2190+33C>A)
 gnomAD v3 gnomAD v4
18g.23540415_23540416delCA2811805095NPC1c.2604+32_2604+33del (n.2604+32_2604+33del)
n.2518+32_2518+33del
n.395+32_395+33del
c.1682+32_1682+33del
c.2655+32_2655+33del (n.2655+32_2655+33del)
c.2190+32_2190+33del (n.2190+32_2190+33del)
18g.23540415_23540417delCA988381982NPC1c.2604+31_2604+33del (n.2604+31_2604+33del)
n.2518+31_2518+33del
n.395+31_395+33del
c.1682+31_1682+33del
c.2655+31_2655+33del (n.2655+31_2655+33del)
c.2190+31_2190+33del (n.2190+31_2190+33del)
 gnomAD v3 gnomAD v4
18g.23540416T>ACA628677963NPC1c.2604+32A>T (n.2604+32A>T)
n.2518+32A>T
n.395+32A>T
c.1682+32A>T
c.2655+32A>T (n.2655+32A>T)
c.2190+32A>T (n.2190+32A>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23540416T>CCA2641274157NPC1c.2604+32A>G (n.2604+32A>G)
n.2518+32A>G
n.395+32A>G
c.1682+32A>G
c.2655+32A>G (n.2655+32A>G)
c.2190+32A>G (n.2190+32A>G)
 gnomAD v4
18g.23540416T>GCA2641274156NPC1c.2604+32A>C (n.2604+32A>C)
n.2518+32A>C
n.395+32A>C
c.1682+32A>C
c.2655+32A>C (n.2655+32A>C)
c.2190+32A>C (n.2190+32A>C)
 gnomAD v4
18g.23540416T=CA2290166203NPC1c.2604+32A= (n.2604+32A=)
n.2518+32A=
n.395+32A=
c.1682+32A=
c.2655+32A= (n.2655+32A=)
c.2190+32A= (n.2190+32A=)
18g.23540417dupCA8913031NPC1c.2604+32dup (n.2604+32dup)
n.2518+32dup
n.395+32dup
c.1682+32dup
c.2655+32dup (n.2655+32dup)
c.2190+32dup (n.2190+32dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23540417delCA988381984NPC1c.2604+32del (n.2604+32del)
n.2518+32del
n.395+32del
c.1682+32del
c.2655+32del (n.2655+32del)
c.2190+32del (n.2190+32del)
 gnomAD v3 gnomAD v4
18g.23540416_23540417insACA2641274160NPC1c.2604+31_2604+32insT (n.2604+31_2604+32insT)
n.2518+31_2518+32insT
n.395+31_395+32insT
c.1682+31_1682+32insT
c.2655+31_2655+32insT (n.2655+31_2655+32insT)
c.2190+31_2190+32insT (n.2190+31_2190+32insT)
 gnomAD v4
18g.23540416_23540417insGCA2811805102NPC1c.2604+31_2604+32insC (n.2604+31_2604+32insC)
n.2518+31_2518+32insC
n.395+31_395+32insC
c.1682+31_1682+32insC
c.2655+31_2655+32insC (n.2655+31_2655+32insC)
c.2190+31_2190+32insC (n.2190+31_2190+32insC)
18g.23540416_23540417insAAAAAAAACA988381985NPC1c.2604+31_2604+32insTTTTTTTT (n.2604+31_2604+32insTTTTTTTT)
n.2518+31_2518+32insTTTTTTTT
n.395+31_395+32insTTTTTTTT
c.1682+31_1682+32insTTTTTTTT
c.2655+31_2655+32insTTTTTTTT (n.2655+31_2655+32insTTTTTTTT)
c.2190+31_2190+32insTTTTTTTT (n.2190+31_2190+32insTTTTTTTT)
 dbSNP gnomAD v3 gnomAD v4
18g.23540417T>ACA628677965NPC1c.2604+31A>T (n.2604+31A>T)
n.2518+31A>T
n.395+31A>T
c.1682+31A>T
c.2655+31A>T (n.2655+31A>T)
c.2190+31A>T (n.2190+31A>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23540417T>CCA2641274159NPC1c.2604+31A>G (n.2604+31A>G)
n.2518+31A>G
n.395+31A>G
c.1682+31A>G
c.2655+31A>G (n.2655+31A>G)
c.2190+31A>G (n.2190+31A>G)
 gnomAD v4
18g.23540417T=CA2290166205NPC1c.2604+31A= (n.2604+31A=)
n.2518+31A=
n.395+31A=
c.1682+31A=
c.2655+31A= (n.2655+31A=)
c.2190+31A= (n.2190+31A=)
18g.23540417_23540425delinsTAAAAAAAACA2290166204NPC1c.2604+23_2604+31delinsTTTTTTTTA (n.2604+23_2604+31delinsTTTTTTTTA)
n.2518+23_2518+31delinsTTTTTTTTA
n.395+23_395+31delinsTTTTTTTTA
c.1682+23_1682+31delinsTTTTTTTTA
c.2655+23_2655+31delinsTTTTTTTTA (n.2655+23_2655+31delinsTTTTTTTTA)
c.2190+23_2190+31delinsTTTTTTTTA (n.2190+23_2190+31delinsTTTTTTTTA)
18g.23540417_23540418insTACA2641274173NPC1c.2604+30_2604+31insTA (n.2604+30_2604+31insTA)
n.2518+30_2518+31insTA
n.395+30_395+31insTA
c.1682+30_1682+31insTA
c.2655+30_2655+31insTA (n.2655+30_2655+31insTA)
c.2190+30_2190+31insTA (n.2190+30_2190+31insTA)
 gnomAD v4
18g.23540418A=CA2290166206NPC1c.2604+30T= (n.2604+30T=)
n.2518+30T=
n.395+30T=
c.1682+30T=
c.2655+30T= (n.2655+30T=)
c.2190+30T= (n.2190+30T=)
18g.23540418A>TCA628677969NPC1c.2604+30T>A (n.2604+30T>A)
n.2518+30T>A
n.395+30T>A
c.1682+30T>A
c.2655+30T>A (n.2655+30T>A)
c.2190+30T>A (n.2190+30T>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23540433_23540434insAAAAAAAAAAAAAAAAAAAACA919946918NPC1c.2604+30_2604+31insTTTTTTTTTTTTTTTTTTTT (n.2604+30_2604+31insTTTTTTTTTTTTTTTTTTTT)
n.2518+30_2518+31insTTTTTTTTTTTTTTTTTTTT
n.395+30_395+31insTTTTTTTTTTTTTTTTTTTT
c.1682+30_1682+31insTTTTTTTTTTTTTTTTTTTT
c.2655+30_2655+31insTTTTTTTTTTTTTTTTTTTT (n.2655+30_2655+31insTTTTTTTTTTTTTTTTTTTT)
c.2190+30_2190+31insTTTTTTTTTTTTTTTTTTTT (n.2190+30_2190+31insTTTTTTTTTTTTTTTTTTTT)
 dbSNP gnomAD v4
18g.23540433_23540434insAAAAAAAAAAAAAAAAAAAAACA2290166207NPC1c.2604+30_2604+31insTTTTTTTTTTTTTTTTTTTTT (n.2604+30_2604+31insTTTTTTTTTTTTTTTTTTTTT)
n.2518+30_2518+31insTTTTTTTTTTTTTTTTTTTTT
n.395+30_395+31insTTTTTTTTTTTTTTTTTTTTT
c.1682+30_1682+31insTTTTTTTTTTTTTTTTTTTTT
c.2655+30_2655+31insTTTTTTTTTTTTTTTTTTTTT (n.2655+30_2655+31insTTTTTTTTTTTTTTTTTTTTT)
c.2190+30_2190+31insTTTTTTTTTTTTTTTTTTTTT (n.2190+30_2190+31insTTTTTTTTTTTTTTTTTTTTT)
 dbSNP
18g.23540433_23540434insAAAAAAAAAAAAAAAAAAAAAAACA2641274176NPC1c.2604+30_2604+31insTTTTTTTTTTTTTTTTTTTTTTT (n.2604+30_2604+31insTTTTTTTTTTTTTTTTTTTTTTT)
n.2518+30_2518+31insTTTTTTTTTTTTTTTTTTTTTTT
n.395+30_395+31insTTTTTTTTTTTTTTTTTTTTTTT
c.1682+30_1682+31insTTTTTTTTTTTTTTTTTTTTTTT
c.2655+30_2655+31insTTTTTTTTTTTTTTTTTTTTTTT (n.2655+30_2655+31insTTTTTTTTTTTTTTTTTTTTTTT)
c.2190+30_2190+31insTTTTTTTTTTTTTTTTTTTTTTT (n.2190+30_2190+31insTTTTTTTTTTTTTTTTTTTTTTT)
 gnomAD v4
18g.23540433_23540434insAGAAGACATCAAACATCAAACATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA2641274174NPC1c.2604+30_2604+31insTTTTTTTTTTTTTTATGTTTGATGTTTGATGTCTTCTTTTTTTTTTTTTTTTT (n.2604+30_2604+31insTTTTTTTTTTTTTTATGTTTGATGTTTGATGTCTTCTTTTTTTTTTTTTTTTT)
n.2518+30_2518+31insTTTTTTTTTTTTTTATGTTTGATGTTTGATGTCTTCTTTTTTTTTTTTTTTTT
n.395+30_395+31insTTTTTTTTTTTTTTATGTTTGATGTTTGATGTCTTCTTTTTTTTTTTTTTTTT
c.1682+30_1682+31insTTTTTTTTTTTTTTATGTTTGATGTTTGATGTCTTCTTTTTTTTTTTTTTTTT
c.2655+30_2655+31insTTTTTTTTTTTTTTATGTTTGATGTTTGATGTCTTCTTTTTTTTTTTTTTTTT (n.2655+30_2655+31insTTTTTTTTTTTTTTATGTTTGATGTTTGATGTCTTCTTTTTTTTTTTTTTTTT)
c.2190+30_2190+31insTTTTTTTTTTTTTTATGTTTGATGTTTGATGTCTTCTTTTTTTTTTTTTTTTT (n.2190+30_2190+31insTTTTTTTTTTTTTTATGTTTGATGTTTGATGTCTTCTTTTTTTTTTTTTTTTT)
 gnomAD v4
18g.23540433_23540434insAGAAAACAACTTAAAACTAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA988381990NPC1c.2604+30_2604+31insTTTTTTTTTTTTTGTTTTTAGTTTTAAGTTGTTTTCTTTTTTTTTTTTTTTTT (n.2604+30_2604+31insTTTTTTTTTTTTTGTTTTTAGTTTTAAGTTGTTTTCTTTTTTTTTTTTTTTTT)
n.2518+30_2518+31insTTTTTTTTTTTTTGTTTTTAGTTTTAAGTTGTTTTCTTTTTTTTTTTTTTTTT
n.395+30_395+31insTTTTTTTTTTTTTGTTTTTAGTTTTAAGTTGTTTTCTTTTTTTTTTTTTTTTT
c.1682+30_1682+31insTTTTTTTTTTTTTGTTTTTAGTTTTAAGTTGTTTTCTTTTTTTTTTTTTTTTT
c.2655+30_2655+31insTTTTTTTTTTTTTGTTTTTAGTTTTAAGTTGTTTTCTTTTTTTTTTTTTTTTT (n.2655+30_2655+31insTTTTTTTTTTTTTGTTTTTAGTTTTAAGTTGTTTTCTTTTTTTTTTTTTTTTT)
c.2190+30_2190+31insTTTTTTTTTTTTTGTTTTTAGTTTTAAGTTGTTTTCTTTTTTTTTTTTTTTTT (n.2190+30_2190+31insTTTTTTTTTTTTTGTTTTTAGTTTTAAGTTGTTTTCTTTTTTTTTTTTTTTTT)
 gnomAD v3 gnomAD v4
18g.23540433dupCA8913036NPC1c.2604+30dup (n.2604+30dup)
n.2518+30dup
n.395+30dup
c.1682+30dup
c.2655+30dup (n.2655+30dup)
c.2190+30dup (n.2190+30dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23540432_23540433dupCA8913037NPC1c.2604+29_2604+30dup (n.2604+29_2604+30dup)
n.2518+29_2518+30dup
n.395+29_395+30dup
c.1682+29_1682+30dup
c.2655+29_2655+30dup (n.2655+29_2655+30dup)
c.2190+29_2190+30dup (n.2190+29_2190+30dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23540431_23540433dupCA919946917NPC1c.2604+28_2604+30dup (n.2604+28_2604+30dup)
n.2518+28_2518+30dup
n.395+28_395+30dup
c.1682+28_1682+30dup
c.2655+28_2655+30dup (n.2655+28_2655+30dup)
c.2190+28_2190+30dup (n.2190+28_2190+30dup)
 dbSNP gnomAD v4
18g.23540430_23540433dupCA2641274184NPC1c.2604+27_2604+30dup (n.2604+27_2604+30dup)
n.2518+27_2518+30dup
n.395+27_395+30dup
c.1682+27_1682+30dup
c.2655+27_2655+30dup (n.2655+27_2655+30dup)
c.2190+27_2190+30dup (n.2190+27_2190+30dup)
 gnomAD v4
18g.23540429_23540433dupCA2641274182NPC1c.2604+26_2604+30dup (n.2604+26_2604+30dup)
n.2518+26_2518+30dup
n.395+26_395+30dup
c.1682+26_1682+30dup
c.2655+26_2655+30dup (n.2655+26_2655+30dup)
c.2190+26_2190+30dup (n.2190+26_2190+30dup)
 gnomAD v4
18g.23540428_23540433dupCA988381987NPC1c.2604+25_2604+30dup (n.2604+25_2604+30dup)
n.2518+25_2518+30dup
n.395+25_395+30dup
c.1682+25_1682+30dup
c.2655+25_2655+30dup (n.2655+25_2655+30dup)
c.2190+25_2190+30dup (n.2190+25_2190+30dup)
 gnomAD v3 gnomAD v4
18g.23540426_23540433dupCA2641274180NPC1c.2604+23_2604+30dup (n.2604+23_2604+30dup)
n.2518+23_2518+30dup
n.395+23_395+30dup
c.1682+23_1682+30dup
c.2655+23_2655+30dup (n.2655+23_2655+30dup)
c.2190+23_2190+30dup (n.2190+23_2190+30dup)
 gnomAD v4
18g.23540425_23540433dupCA988381988NPC1c.2604+22_2604+30dup (n.2604+22_2604+30dup)
n.2518+22_2518+30dup
n.395+22_395+30dup
c.1682+22_1682+30dup
c.2655+22_2655+30dup (n.2655+22_2655+30dup)
c.2190+22_2190+30dup (n.2190+22_2190+30dup)
 gnomAD v3 gnomAD v4
18g.23540424_23540433dupCA2811805110NPC1c.2604+21_2604+30dup (n.2604+21_2604+30dup)
n.2518+21_2518+30dup
n.395+21_395+30dup
c.1682+21_1682+30dup
c.2655+21_2655+30dup (n.2655+21_2655+30dup)
c.2190+21_2190+30dup (n.2190+21_2190+30dup)
18g.23540433delCA8913035NPC1c.2604+30del (n.2604+30del)
n.2518+30del
n.395+30del
c.1682+30del
c.2655+30del (n.2655+30del)
c.2190+30del (n.2190+30del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
18g.23540432_23540433delCA8913034NPC1c.2604+29_2604+30del (n.2604+29_2604+30del)
n.2518+29_2518+30del
n.395+29_395+30del
c.1682+29_1682+30del
c.2655+29_2655+30del (n.2655+29_2655+30del)
c.2190+29_2190+30del (n.2190+29_2190+30del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23540431_23540433delCA8913033NPC1c.2604+28_2604+30del (n.2604+28_2604+30del)
n.2518+28_2518+30del
n.395+28_395+30del
c.1682+28_1682+30del
c.2655+28_2655+30del (n.2655+28_2655+30del)
c.2190+28_2190+30del (n.2190+28_2190+30del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23540430_23540433delCA8913032NPC1c.2604+27_2604+30del (n.2604+27_2604+30del)
n.2518+27_2518+30del
n.395+27_395+30del
c.1682+27_1682+30del
c.2655+27_2655+30del (n.2655+27_2655+30del)
c.2190+27_2190+30del (n.2190+27_2190+30del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23540429_23540433delCA2546026757NPC1c.2604+26_2604+30del (n.2604+26_2604+30del)
n.2518+26_2518+30del
n.395+26_395+30del
c.1682+26_1682+30del
c.2655+26_2655+30del (n.2655+26_2655+30del)
c.2190+26_2190+30del (n.2190+26_2190+30del)
 dbSNP gnomAD v3 gnomAD v4
18g.23540428_23540433delCA2641274168NPC1c.2604+25_2604+30del (n.2604+25_2604+30del)
n.2518+25_2518+30del
n.395+25_395+30del
c.1682+25_1682+30del
c.2655+25_2655+30del (n.2655+25_2655+30del)
c.2190+25_2190+30del (n.2190+25_2190+30del)
 gnomAD v4
18g.23540427_23540433delCA988382002NPC1c.2604+24_2604+30del (n.2604+24_2604+30del)
n.2518+24_2518+30del
n.395+24_395+30del
c.1682+24_1682+30del
c.2655+24_2655+30del (n.2655+24_2655+30del)
c.2190+24_2190+30del (n.2190+24_2190+30del)
 dbSNP gnomAD v3 gnomAD v4
18g.23540426_23540433delCA2290166208NPC1c.2604+23_2604+30del (n.2604+23_2604+30del)
n.2518+23_2518+30del
n.395+23_395+30del
c.1682+23_1682+30del
c.2655+23_2655+30del (n.2655+23_2655+30del)
c.2190+23_2190+30del (n.2190+23_2190+30del)
 dbSNP gnomAD v4
18g.23540419A>TCA2576470717NPC1c.2604+29T>A (n.2604+29T>A)
n.2518+29T>A
n.395+29T>A
c.1682+29T>A
c.2655+29T>A (n.2655+29T>A)
c.2190+29T>A (n.2190+29T>A)
 gnomAD v4
18g.23540420A>TCA2641274187NPC1c.2604+28T>A (n.2604+28T>A)
n.2518+28T>A
n.395+28T>A
c.1682+28T>A
c.2655+28T>A (n.2655+28T>A)
c.2190+28T>A (n.2190+28T>A)
 gnomAD v4
18g.23540421A>TCA657194022NPC1c.2604+27T>A (n.2604+27T>A)
n.2518+27T>A
n.395+27T>A
c.1682+27T>A
c.2655+27T>A (n.2655+27T>A)
c.2190+27T>A (n.2190+27T>A)
 COSMIC
18g.23540422A>GCA2641274189NPC1c.2604+26T>C (n.2604+26T>C)
n.2518+26T>C
n.395+26T>C
c.1682+26T>C
c.2655+26T>C (n.2655+26T>C)
c.2190+26T>C (n.2190+26T>C)
 gnomAD v4
18g.23540422A>TCA657194024NPC1c.2604+26T>A (n.2604+26T>A)
n.2518+26T>A
n.395+26T>A
c.1682+26T>A
c.2655+26T>A (n.2655+26T>A)
c.2190+26T>A (n.2190+26T>A)
 COSMIC
18g.23540423A=CA2290166209NPC1c.2604+25T= (n.2604+25T=)
n.2518+25T=
n.395+25T=
c.1682+25T=
c.2655+25T= (n.2655+25T=)
c.2190+25T= (n.2190+25T=)
18g.23540423A>CCA8913038NPC1c.2604+25T>G (n.2604+25T>G)
n.2518+25T>G
n.395+25T>G
c.1682+25T>G
c.2655+25T>G (n.2655+25T>G)
c.2190+25T>G (n.2190+25T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23540423A>GCA2641274192NPC1c.2604+25T>C (n.2604+25T>C)
n.2518+25T>C
n.395+25T>C
c.1682+25T>C
c.2655+25T>C (n.2655+25T>C)
c.2190+25T>C (n.2190+25T>C)
 gnomAD v4
18g.23540424A=CA2290166210NPC1c.2604+24T= (n.2604+24T=)
n.2518+24T=
n.395+24T=
c.1682+24T=
c.2655+24T= (n.2655+24T=)
c.2190+24T= (n.2190+24T=)
18g.23540424A>GCA777720839NPC1c.2604+24T>C (n.2604+24T>C)
n.2518+24T>C
n.395+24T>C
c.1682+24T>C
c.2655+24T>C (n.2655+24T>C)
c.2190+24T>C (n.2190+24T>C)
 dbSNP gnomAD v3 gnomAD v4
18g.23540425A=CA2290166211NPC1c.2604+23T= (n.2604+23T=)
n.2518+23T=
n.395+23T=
c.1682+23T=
c.2655+23T= (n.2655+23T=)
c.2190+23T= (n.2190+23T=)
18g.23540425A>GCA8913039NPC1c.2604+23T>C (n.2604+23T>C)
n.2518+23T>C
n.395+23T>C
c.1682+23T>C
c.2655+23T>C (n.2655+23T>C)
c.2190+23T>C (n.2190+23T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23540426A>GCA2641274194NPC1c.2604+22T>C (n.2604+22T>C)
n.2518+22T>C
n.395+22T>C
c.1682+22T>C
c.2655+22T>C (n.2655+22T>C)
c.2190+22T>C (n.2190+22T>C)
 gnomAD v4
18g.23540427A>GCA2641274195NPC1c.2604+21T>C (n.2604+21T>C)
n.2518+21T>C
n.395+21T>C
c.1682+21T>C
c.2655+21T>C (n.2655+21T>C)
c.2190+21T>C (n.2190+21T>C)
 gnomAD v4
18g.23540428A>GCA2641274197NPC1c.2604+20T>C (n.2604+20T>C)
n.2518+20T>C
n.395+20T>C
c.1682+20T>C
c.2655+20T>C (n.2655+20T>C)
c.2190+20T>C (n.2190+20T>C)
 gnomAD v4
18g.23540429A=CA2290166212NPC1c.2604+19T= (n.2604+19T=)
n.2518+19T=
n.395+19T=
c.1682+19T=
c.2655+19T= (n.2655+19T=)
c.2190+19T= (n.2190+19T=)
18g.23540429A>GCA628677971NPC1c.2604+19T>C (n.2604+19T>C)
n.2518+19T>C
n.395+19T>C
c.1682+19T>C
c.2655+19T>C (n.2655+19T>C)
c.2190+19T>C (n.2190+19T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.23540430A>GCA628677972NPC1c.2604+18T>C (n.2604+18T>C)
n.2518+18T>C
n.395+18T>C
c.1682+18T>C
c.2655+18T>C (n.2655+18T>C)
c.2190+18T>C (n.2190+18T>C)
 gnomAD v2 gnomAD v4
18g.23540430_23540434delCA2576470718NPC1c.2604+14_2604+18del (n.2604+14_2604+18del)
n.2518+14_2518+18del
n.395+14_395+18del
c.1682+14_1682+18del
c.2655+14_2655+18del (n.2655+14_2655+18del)
c.2190+14_2190+18del (n.2190+14_2190+18del)
 gnomAD v4
18g.23540430_23540434delinsAAAAGCA2290166213NPC1c.2604+14_2604+18delinsCTTTT (n.2604+14_2604+18delinsCTTTT)
n.2518+14_2518+18delinsCTTTT
n.395+14_395+18delinsCTTTT
c.1682+14_1682+18delinsCTTTT
c.2655+14_2655+18delinsCTTTT (n.2655+14_2655+18delinsCTTTT)
c.2190+14_2190+18delinsCTTTT (n.2190+14_2190+18delinsCTTTT)
18g.23540431A>GCA2641274209NPC1c.2604+17T>C (n.2604+17T>C)
n.2518+17T>C
n.395+17T>C
c.1682+17T>C
c.2655+17T>C (n.2655+17T>C)
c.2190+17T>C (n.2190+17T>C)
 gnomAD v4
18g.23540431_23540434delCA8913040NPC1c.2604+14_2604+17del (n.2604+14_2604+17del)
n.2518+14_2518+17del
n.395+14_395+17del
c.1682+14_1682+17del
c.2655+14_2655+17del (n.2655+14_2655+17del)
c.2190+14_2190+17del (n.2190+14_2190+17del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.23540431_23540434delinsAAAGCA2290166214NPC1c.2604+14_2604+17delinsCTTT (n.2604+14_2604+17delinsCTTT)
n.2518+14_2518+17delinsCTTT
n.395+14_395+17delinsCTTT
c.1682+14_1682+17delinsCTTT
c.2655+14_2655+17delinsCTTT (n.2655+14_2655+17delinsCTTT)
c.2190+14_2190+17delinsCTTT (n.2190+14_2190+17delinsCTTT)
18g.23540431_23540435delinsAAAGGCA2290166215NPC1c.2604+13_2604+17delinsCCTTT (n.2604+13_2604+17delinsCCTTT)
n.2518+13_2518+17delinsCCTTT
n.395+13_395+17delinsCCTTT
c.1682+13_1682+17delinsCCTTT
c.2655+13_2655+17delinsCCTTT (n.2655+13_2655+17delinsCCTTT)
c.2190+13_2190+17delinsCCTTT (n.2190+13_2190+17delinsCCTTT)
18g.23540432A>GCA2590759953NPC1c.2604+16T>C (n.2604+16T>C)
n.2518+16T>C
n.395+16T>C
c.1682+16T>C
c.2655+16T>C (n.2655+16T>C)
c.2190+16T>C (n.2190+16T>C)
 gnomAD v3 gnomAD v4
18g.23540432A>TCA2641274214NPC1c.2604+16T>A (n.2604+16T>A)
n.2518+16T>A
n.395+16T>A
c.1682+16T>A
c.2655+16T>A (n.2655+16T>A)
c.2190+16T>A (n.2190+16T>A)
 gnomAD v4
18g.23540432_23540434delCA8913041NPC1c.2604+14_2604+16del (n.2604+14_2604+16del)
n.2518+14_2518+16del
n.395+14_395+16del
c.1682+14_1682+16del
c.2655+14_2655+16del (n.2655+14_2655+16del)
c.2190+14_2190+16del (n.2190+14_2190+16del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23540432_23540434delinsAAGCA2290166216NPC1c.2604+14_2604+16delinsCTT (n.2604+14_2604+16delinsCTT)
n.2518+14_2518+16delinsCTT
n.395+14_395+16delinsCTT
c.1682+14_1682+16delinsCTT
c.2655+14_2655+16delinsCTT (n.2655+14_2655+16delinsCTT)
c.2190+14_2190+16delinsCTT (n.2190+14_2190+16delinsCTT)
18g.23540435_23540438delCA8913042NPC1c.2604+13_2604+16del (n.2604+13_2604+16del)
n.2518+13_2518+16del
n.395+13_395+16del
c.1682+13_1682+16del
c.2655+13_2655+16del (n.2655+13_2655+16del)
c.2190+13_2190+16del (n.2190+13_2190+16del)
 dbSNP ExAC
18g.23540433A=CA2290166218NPC1c.2604+15T= (n.2604+15T=)
n.2518+15T=
n.395+15T=
c.1682+15T=
c.2655+15T= (n.2655+15T=)
c.2190+15T= (n.2190+15T=)
18g.23540433A>GCA628677973NPC1c.2604+15T>C (n.2604+15T>C)
n.2518+15T>C
n.395+15T>C
c.1682+15T>C
c.2655+15T>C (n.2655+15T>C)
c.2190+15T>C (n.2190+15T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.23540433A>TCA2641274219NPC1c.2604+15T>A (n.2604+15T>A)
n.2518+15T>A
n.395+15T>A
c.1682+15T>A
c.2655+15T>A (n.2655+15T>A)
c.2190+15T>A (n.2190+15T>A)
 gnomAD v4
18g.23540433_23540434delCA628677974NPC1c.2604+14_2604+15del (n.2604+14_2604+15del)
n.2518+14_2518+15del
n.395+14_395+15del
c.1682+14_1682+15del
c.2655+14_2655+15del (n.2655+14_2655+15del)
c.2190+14_2190+15del (n.2190+14_2190+15del)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.23540433_23540434delinsAGCA2290166217NPC1c.2604+14_2604+15delinsCT (n.2604+14_2604+15delinsCT)
n.2518+14_2518+15delinsCT
n.395+14_395+15delinsCT
c.1682+14_1682+15delinsCT
c.2655+14_2655+15delinsCT (n.2655+14_2655+15delinsCT)
c.2190+14_2190+15delinsCT (n.2190+14_2190+15delinsCT)
18g.23540433_23540435delinsAGGCA2290166219NPC1c.2604+13_2604+15delinsCCT (n.2604+13_2604+15delinsCCT)
n.2518+13_2518+15delinsCCT
n.395+13_395+15delinsCCT
c.1682+13_1682+15delinsCCT
c.2655+13_2655+15delinsCCT (n.2655+13_2655+15delinsCCT)
c.2190+13_2190+15delinsCCT (n.2190+13_2190+15delinsCCT)
18g.23540434_23540436delCA401793059NPC1c.2604+13_2604+15del (n.2604+13_2604+15del)
n.2518+13_2518+15del
n.395+13_395+15del
c.1682+13_1682+15del
c.2655+13_2655+15del (n.2655+13_2655+15del)
c.2190+13_2190+15del (n.2190+13_2190+15del)
18g.23540433_23540434insTCA2641274226NPC1c.2604+14_2604+15insA (n.2604+14_2604+15insA)
n.2518+14_2518+15insA
n.395+14_395+15insA
c.1682+14_1682+15insA
c.2655+14_2655+15insA (n.2655+14_2655+15insA)
c.2190+14_2190+15insA (n.2190+14_2190+15insA)
 gnomAD v4
18g.23540434G>ACA628677975NPC1c.2604+14C>T (n.2604+14C>T)
n.2518+14C>T
n.395+14C>T
c.1682+14C>T
c.2655+14C>T (n.2655+14C>T)
c.2190+14C>T (n.2190+14C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23540434G>CCA777720864NPC1c.2604+14C>G (n.2604+14C>G)
n.2518+14C>G
n.395+14C>G
c.1682+14C>G
c.2655+14C>G (n.2655+14C>G)
c.2190+14C>G (n.2190+14C>G)
 dbSNP gnomAD v3 gnomAD v4
18g.23540434G=CA2290166221NPC1c.2604+14C= (n.2604+14C=)
n.2518+14C=
n.395+14C=
c.1682+14C=
c.2655+14C= (n.2655+14C=)
c.2190+14C= (n.2190+14C=)
18g.23540434G>TCA2641274232NPC1c.2604+14C>A (n.2604+14C>A)
n.2518+14C>A
n.395+14C>A
c.1682+14C>A
c.2655+14C>A (n.2655+14C>A)
c.2190+14C>A (n.2190+14C>A)
 gnomAD v4
18g.23540434_23540435delCA2290166220NPC1c.2604+13_2604+14del (n.2604+13_2604+14del)
n.2518+13_2518+14del
n.395+13_395+14del
c.1682+13_1682+14del
c.2655+13_2655+14del (n.2655+13_2655+14del)
c.2190+13_2190+14del (n.2190+13_2190+14del)
 dbSNP gnomAD v4
18g.23540435delCA8913043NPC1c.2604+14del (n.2604+14del)
n.2518+14del
n.395+14del
c.1682+14del
c.2655+14del (n.2655+14del)
c.2190+14del (n.2190+14del)
 dbSNP ExAC gnomAD v4
18g.23540434_23540435insAAACA2641274240NPC1c.2604+13_2604+14insTTT (n.2604+13_2604+14insTTT)
n.2518+13_2518+14insTTT
n.395+13_395+14insTTT
c.1682+13_1682+14insTTT
c.2655+13_2655+14insTTT (n.2655+13_2655+14insTTT)
c.2190+13_2190+14insTTT (n.2190+13_2190+14insTTT)
 gnomAD v4
18g.23540435G>ACA628677976NPC1c.2604+13C>T (n.2604+13C>T)
n.2518+13C>T
n.395+13C>T
c.1682+13C>T
c.2655+13C>T (n.2655+13C>T)
c.2190+13C>T (n.2190+13C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23540435G=CA2290166222NPC1c.2604+13C= (n.2604+13C=)
n.2518+13C=
n.395+13C=
c.1682+13C=
c.2655+13C= (n.2655+13C=)
c.2190+13C= (n.2190+13C=)
18g.23540435G>TCA297081756NPC1c.2604+13C>A (n.2604+13C>A)
n.2518+13C>A
n.395+13C>A
c.1682+13C>A
c.2655+13C>A (n.2655+13C>A)
c.2190+13C>A (n.2190+13C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23540436A>GCA2641274244NPC1c.2604+12T>C (n.2604+12T>C)
n.2518+12T>C
n.395+12T>C
c.1682+12T>C
c.2655+12T>C (n.2655+12T>C)
c.2190+12T>C (n.2190+12T>C)
 gnomAD v4
18g.23540436A>TCA2641274245NPC1c.2604+12T>A (n.2604+12T>A)
n.2518+12T>A
n.395+12T>A
c.1682+12T>A
c.2655+12T>A (n.2655+12T>A)
c.2190+12T>A (n.2190+12T>A)
 gnomAD v4
18g.23540437A=CA2290166223NPC1c.2604+11T= (n.2604+11T=)
n.2518+11T=
n.395+11T=
c.1682+11T=
c.2655+11T= (n.2655+11T=)
c.2190+11T= (n.2190+11T=)
18g.23540437A>CCA2641274248NPC1c.2604+11T>G (n.2604+11T>G)
n.2518+11T>G
n.395+11T>G
c.1682+11T>G
c.2655+11T>G (n.2655+11T>G)
c.2190+11T>G (n.2190+11T>G)
 gnomAD v4
18g.23540437A>GCA628677977NPC1c.2604+11T>C (n.2604+11T>C)
n.2518+11T>C
n.395+11T>C
c.1682+11T>C
c.2655+11T>C (n.2655+11T>C)
c.2190+11T>C (n.2190+11T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23540437A>TCA2641274250NPC1c.2604+11T>A (n.2604+11T>A)
n.2518+11T>A
n.395+11T>A
c.1682+11T>A
c.2655+11T>A (n.2655+11T>A)
c.2190+11T>A (n.2190+11T>A)
 gnomAD v4
18g.23540438G>ACA988382017NPC1c.2604+10C>T (n.2604+10C>T)
n.2518+10C>T
n.395+10C>T
c.1682+10C>T
c.2655+10C>T (n.2655+10C>T)
c.2190+10C>T (n.2190+10C>T)
 gnomAD v3 gnomAD v4
18g.23540438G>CCA2641274256NPC1c.2604+10C>G (n.2604+10C>G)
n.2518+10C>G
n.395+10C>G
c.1682+10C>G
c.2655+10C>G (n.2655+10C>G)
c.2190+10C>G (n.2190+10C>G)
 gnomAD v4
18g.23540438G=CA2290166224NPC1c.2604+10C= (n.2604+10C=)
n.2518+10C=
n.395+10C=
c.1682+10C=
c.2655+10C= (n.2655+10C=)
c.2190+10C= (n.2190+10C=)
18g.23540438G>TCA2641274254NPC1c.2604+10C>A (n.2604+10C>A)
n.2518+10C>A
n.395+10C>A
c.1682+10C>A
c.2655+10C>A (n.2655+10C>A)
c.2190+10C>A (n.2190+10C>A)
 gnomAD v4
18g.23540439T>ACA628677978NPC1c.2604+9A>T (n.2604+9A>T)
n.2518+9A>T
n.395+9A>T
c.1682+9A>T
c.2655+9A>T (n.2655+9A>T)
c.2190+9A>T (n.2190+9A>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23540439T>CCA628677979NPC1c.2604+9A>G (n.2604+9A>G)
n.2518+9A>G
n.395+9A>G
c.1682+9A>G
c.2655+9A>G (n.2655+9A>G)
c.2190+9A>G (n.2190+9A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23540439T>GCA628677980NPC1c.2604+9A>C (n.2604+9A>C)
n.2518+9A>C
n.395+9A>C
c.1682+9A>C
c.2655+9A>C (n.2655+9A>C)
c.2190+9A>C (n.2190+9A>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23540439T=CA2290166225NPC1c.2604+9A= (n.2604+9A=)
n.2518+9A=
n.395+9A=
c.1682+9A=
c.2655+9A= (n.2655+9A=)
c.2190+9A= (n.2190+9A=)
18g.23540441_23540443dupCA8913044NPC1c.2604+7_2604+9dup (n.2604+7_2604+9dup)
n.2518+7_2518+9dup
n.395+7_395+9dup
c.1682+7_1682+9dup
c.2655+7_2655+9dup (n.2655+7_2655+9dup)
c.2190+7_2190+9dup (n.2190+7_2190+9dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23540440C>ACA988382028NPC1c.2604+8G>T (n.2604+8G>T)
n.2518+8G>T
n.395+8G>T
c.1682+8G>T
c.2655+8G>T (n.2655+8G>T)
c.2190+8G>T (n.2190+8G>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.23540440C=CA2290166226NPC1c.2604+8G= (n.2604+8G=)
n.2518+8G=
n.395+8G=
c.1682+8G=
c.2655+8G= (n.2655+8G=)
c.2190+8G= (n.2190+8G=)
18g.23540440C>GCA628677981NPC1c.2604+8G>C (n.2604+8G>C)
n.2518+8G>C
n.395+8G>C
c.1682+8G>C
c.2655+8G>C (n.2655+8G>C)
c.2190+8G>C (n.2190+8G>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23540440C>TCA2641274274NPC1c.2604+8G>A (n.2604+8G>A)
n.2518+8G>A
n.395+8G>A
c.1682+8G>A
c.2655+8G>A (n.2655+8G>A)
c.2190+8G>A (n.2190+8G>A)
 gnomAD v4
18g.23540441A=CA2290166227NPC1c.2604+7T= (n.2604+7T=)
n.2518+7T=
n.395+7T=
c.1682+7T=
c.2655+7T= (n.2655+7T=)
c.2190+7T= (n.2190+7T=)
18g.23540441A>GCA777720878NPC1c.2604+7T>C (n.2604+7T>C)
n.2518+7T>C
n.395+7T>C
c.1682+7T>C
c.2655+7T>C (n.2655+7T>C)
c.2190+7T>C (n.2190+7T>C)
 ClinVar dbSNP gnomAD v4
18g.23540442T>ACA2641274280NPC1c.2604+6A>T (n.2604+6A>T)
n.2518+6A>T
n.395+6A>T
c.1682+6A>T
c.2655+6A>T (n.2655+6A>T)
c.2190+6A>T (n.2190+6A>T)
 gnomAD v4
18g.23540442T>CCA2576470719NPC1c.2604+6A>G (n.2604+6A>G)
n.2518+6A>G
n.395+6A>G
c.1682+6A>G
c.2655+6A>G (n.2655+6A>G)
c.2190+6A>G (n.2190+6A>G)
 gnomAD v4
18g.23540443C>ACA2641274281NPC1c.2604+5G>T (n.2604+5G>T)
n.2518+5G>T
n.395+5G>T
c.1682+5G>T
c.2655+5G>T (n.2655+5G>T)
c.2190+5G>T (n.2190+5G>T)
 gnomAD v4
18g.23540443C=CA2290166228NPC1c.2604+5G= (n.2604+5G=)
n.2518+5G=
n.395+5G=
c.1682+5G=
c.2655+5G= (n.2655+5G=)
c.2190+5G= (n.2190+5G=)
18g.23540443C>GCA2641274282NPC1c.2604+5G>C (n.2604+5G>C)
n.2518+5G>C
n.395+5G>C
c.1682+5G>C
c.2655+5G>C (n.2655+5G>C)
c.2190+5G>C (n.2190+5G>C)
 gnomAD v4
18g.23540443C>TCA2290166229NPC1c.2604+5G>A (n.2604+5G>A)
n.2518+5G>A
n.395+5G>A
c.1682+5G>A
c.2655+5G>A (n.2655+5G>A)
c.2190+5G>A (n.2190+5G>A)
 ClinVar dbSNP gnomAD v4
18g.23540444T>CCA2580613287NPC1c.2604+4A>G (n.2604+4A>G)
n.2518+4A>G
n.395+4A>G
c.1682+4A>G
c.2655+4A>G (n.2655+4A>G)
c.2190+4A>G (n.2190+4A>G)
 ClinVar gnomAD v4
18g.23540444T>GCA2641274285NPC1c.2604+4A>C (n.2604+4A>C)
n.2518+4A>C
n.395+4A>C
c.1682+4A>C
c.2655+4A>C (n.2655+4A>C)
c.2190+4A>C (n.2190+4A>C)
 gnomAD v4
18g.23540445delCA2641274284NPC1c.2604+4del (n.2604+4del)
n.2518+4del
n.395+4del
c.1682+4del
c.2655+4del (n.2655+4del)
c.2190+4del (n.2190+4del)
 gnomAD v4
18g.23540445T>CCA8913045NPC1c.2604+3A>G (n.2604+3A>G)
n.2518+3A>G
n.395+3A>G
c.1682+3A>G
c.2655+3A>G (n.2655+3A>G)
c.2190+3A>G (n.2190+3A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.23540445T=CA2290166230NPC1c.2604+3A= (n.2604+3A=)
n.2518+3A=
n.395+3A=
c.1682+3A=
c.2655+3A= (n.2655+3A=)
c.2190+3A= (n.2190+3A=)
18g.23540446A>CCA401793060NPC1c.2604+2T>G (n.2604+2T>G)
n.2518+2T>G
n.395+2T>G
c.1682+2T>G
c.2655+2T>G (n.2655+2T>G)
c.2190+2T>G (n.2190+2T>G)
 ClinVar
18g.23540446A>GCA401793061NPC1c.2604+2T>C (n.2604+2T>C)
n.2518+2T>C
n.395+2T>C
c.1682+2T>C
c.2655+2T>C (n.2655+2T>C)
c.2190+2T>C (n.2190+2T>C)
 gnomAD v4
18g.23540446A>TCA401793062NPC1c.2604+2T>A (n.2604+2T>A)
n.2518+2T>A
n.395+2T>A
c.1682+2T>A
c.2655+2T>A (n.2655+2T>A)
c.2190+2T>A (n.2190+2T>A)
 gnomAD v4
18g.23540447C>ACA401793065NPC1c.2604+1G>T (n.2604+1G>T)
n.2518+1G>T
n.395+1G>T
c.1682+1G>T
c.2655+1G>T (n.2655+1G>T)
c.2190+1G>T (n.2190+1G>T)
 gnomAD v4
18g.23540447C=CA2290166231NPC1c.2604+1G= (n.2604+1G=)
n.2518+1G=
n.395+1G=
c.1682+1G=
c.2655+1G= (n.2655+1G=)
c.2190+1G= (n.2190+1G=)
18g.23540447C>GCA401793064NPC1c.2604+1G>C (n.2604+1G>C)
n.2518+1G>C
n.395+1G>C
c.1682+1G>C
c.2655+1G>C (n.2655+1G>C)
c.2190+1G>C (n.2190+1G>C)
18g.23540447C>TCA401793063NPC1c.2604+1G>A (n.2604+1G>A)
n.2518+1G>A
n.395+1G>A
c.1682+1G>A
c.2655+1G>A (n.2655+1G>A)
c.2190+1G>A (n.2190+1G>A)
 ClinVar dbSNP gnomAD v4
18g.23540448A=CA2290166232NPC1c.2604T= (p.Asp868=)
n.2518T=
n.395T=
c.1682T=
c.2655T= (p.Asp885=)
c.2190T= (p.Asp730=)
18g.23540448A>CCA401793066NPC1c.2604T>G (p.Asp868Glu)
n.2518T>G
n.395T>G
c.1682T>G
c.2655T>G (p.Asp885Glu)
c.2190T>G (p.Asp730Glu)
18g.23540448A>GCA503322755NPC1c.2604T>C (p.Asp868=)
n.2518T>C
n.395T>C
c.1682T>C
c.2655T>C (p.Asp885=)
c.2190T>C (p.Asp730=)
 dbSNP gnomAD v2 gnomAD v4
18g.23540448A>TCA401793067NPC1c.2604T>A (p.Asp868Glu)
n.2518T>A
n.395T>A
c.1682T>A
c.2655T>A (p.Asp885Glu)
c.2190T>A (p.Asp730Glu)
18g.23540449T>ACA401793068NPC1c.2603A>T (p.Asp868Val)
n.2517A>T
n.394A>T
c.1681A>T
c.2654A>T (p.Asp885Val)
c.2189A>T (p.Asp730Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.23540449T>CCA401793069NPC1c.2603A>G (p.Asp868Gly)
n.2517A>G
n.394A>G
c.1681A>G
c.2654A>G (p.Asp885Gly)
c.2189A>G (p.Asp730Gly)
 gnomAD v4
18g.23540449T>GCA401793070NPC1c.2603A>C (p.Asp868Ala)
n.2517A>C
n.394A>C
c.1681A>C
c.2654A>C (p.Asp885Ala)
c.2189A>C (p.Asp730Ala)
18g.23540449T=CA2290166233NPC1c.2603A= (p.Asp868=)
n.2517A=
n.394A=
c.1681A=
c.2654A= (p.Asp885=)
c.2189A= (p.Asp730=)
18g.23540450C>ACA401793071NPC1c.2602G>T (p.Asp868Tyr)
n.2516G>T
n.393G>T
c.1680G>T
c.2653G>T (p.Asp885Tyr)
c.2188G>T (p.Asp730Tyr)
 gnomAD v4
18g.23540450C>GCA401793072NPC1c.2602G>C (p.Asp868His)
n.2516G>C
n.393G>C
c.1680G>C
c.2653G>C (p.Asp885His)
c.2188G>C (p.Asp730His)
18g.23540450C>TCA401793073NPC1c.2602G>A (p.Asp868Asn)
n.2516G>A
n.393G>A
c.1680G>A
c.2653G>A (p.Asp885Asn)
c.2188G>A (p.Asp730Asn)
 gnomAD v4
18g.23540451T>ACA503322761NPC1c.2601A>T (p.Pro867=)
n.2515A>T
n.392A>T
c.1679A>T
c.2652A>T (p.Pro884=)
c.2187A>T (p.Pro729=)
18g.23540451T>CCA503322760NPC1c.2601A>G (p.Pro867=)
n.2515A>G
n.392A>G
c.1679A>G
c.2652A>G (p.Pro884=)
c.2187A>G (p.Pro729=)
 gnomAD v4
18g.23540451T>GCA503322759NPC1c.2601A>C (p.Pro867=)
n.2515A>C
n.392A>C
c.1679A>C
c.2652A>C (p.Pro884=)
c.2187A>C (p.Pro729=)
18g.23540452G>ACA401793074NPC1c.2600C>T (p.Pro867Leu)
n.2514C>T
n.391C>T
c.1678C>T
c.2651C>T (p.Pro884Leu)
c.2186C>T (p.Pro729Leu)
 gnomAD v4
18g.23540452G>CCA401793075NPC1c.2600C>G (p.Pro867Arg)
n.2514C>G
n.391C>G
c.1678C>G
c.2651C>G (p.Pro884Arg)
c.2186C>G (p.Pro729Arg)
18g.23540452G>TCA401793076NPC1c.2600C>A (p.Pro867Gln)
n.2514C>A
n.391C>A
c.1678C>A
c.2651C>A (p.Pro884Gln)
c.2186C>A (p.Pro729Gln)
 gnomAD v4
18g.23540453delCA2641274305NPC1c.2600del (p.Pro867GlnfsTer?)
n.2514del
n.391del
c.1678del
c.2651del (p.Pro884GlnfsTer?)
c.2186del (p.Pro729GlnfsTer?)
 gnomAD v4
18g.23540453G>ACA401793077NPC1c.2599C>T (p.Pro867Ser)
n.2513C>T
n.390C>T
c.1677C>T
c.2650C>T (p.Pro884Ser)
c.2185C>T (p.Pro729Ser)
 dbSNP gnomAD v2 gnomAD v4
18g.23540453G>CCA401793078NPC1c.2599C>G (p.Pro867Ala)
n.2513C>G
n.390C>G
c.1677C>G
c.2650C>G (p.Pro884Ala)
c.2185C>G (p.Pro729Ala)
18g.23540453G=CA2290166234NPC1c.2599C= (p.Pro867=)
n.2513C=
n.390C=
c.1677C=
c.2650C= (p.Pro884=)
c.2185C= (p.Pro729=)
18g.23540453G>TCA401793079NPC1c.2599C>A (p.Pro867Thr)
n.2513C>A
n.390C>A
c.1677C>A
c.2650C>A (p.Pro884Thr)
c.2185C>A (p.Pro729Thr)
 gnomAD v4
18g.23540454C>ACA297081765NPC1c.2598G>T (p.Met866Ile)
n.2512G>T
n.389G>T
c.1676G>T
c.2649G>T (p.Met883Ile)
c.2184G>T (p.Met728Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23540454C=CA2290166235NPC1c.2598G= (p.Met866=)
n.2512G=
n.389G=
c.1676G=
c.2649G= (p.Met883=)
c.2184G= (p.Met728=)
18g.23540454C>GCA401793081NPC1c.2598G>C (p.Met866Ile)
n.2512G>C
n.389G>C
c.1676G>C
c.2649G>C (p.Met883Ile)
c.2184G>C (p.Met728Ile)
18g.23540454C>TCA401793080NPC1c.2598G>A (p.Met866Ile)
n.2512G>A
n.389G>A
c.1676G>A
c.2649G>A (p.Met883Ile)
c.2184G>A (p.Met728Ile)
 dbSNP gnomAD v4
18g.23540455A=CA2290166236NPC1c.2597T= (p.Met866=)
n.2511T=
n.388T=
c.1675T=
c.2648T= (p.Met883=)
c.2183T= (p.Met728=)
18g.23540455A>CCA401793083NPC1c.2597T>G (p.Met866Arg)
n.2511T>G
n.388T>G
c.1675T>G
c.2648T>G (p.Met883Arg)
c.2183T>G (p.Met728Arg)
18g.23540455A>GCA401793082NPC1c.2597T>C (p.Met866Thr)
n.2511T>C
n.388T>C
c.1675T>C
c.2648T>C (p.Met883Thr)
c.2183T>C (p.Met728Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.23540455A>TCA401793084NPC1c.2597T>A (p.Met866Lys)
n.2511T>A
n.388T>A
c.1675T>A
c.2648T>A (p.Met883Lys)
c.2183T>A (p.Met728Lys)
18g.23540456T>ACA401793085NPC1c.2596A>T (p.Met866Leu)
n.2510A>T
n.387A>T
c.1674A>T
c.2647A>T (p.Met883Leu)
c.2182A>T (p.Met728Leu)
 dbSNP gnomAD v4
18g.23540456T>CCA8913046NPC1c.2596A>G (p.Met866Val)
n.2510A>G
n.387A>G
c.1674A>G
c.2647A>G (p.Met883Val)
c.2182A>G (p.Met728Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23540456T>GCA401793086NPC1c.2596A>C (p.Met866Leu)
n.2510A>C
n.387A>C
c.1674A>C
c.2647A>C (p.Met883Leu)
c.2182A>C (p.Met728Leu)
 gnomAD v4
18g.23540456T=CA2290166237NPC1c.2596A= (p.Met866=)
n.2510A=
n.387A=
c.1674A=
c.2647A= (p.Met883=)
c.2182A= (p.Met728=)
18g.23540457C>ACA503322766NPC1c.2595G>T (p.Ser865=)
n.2509G>T
n.386G>T
c.1673G>T
c.2646G>T (p.Ser882=)
c.2181G>T (p.Ser727=)
 dbSNP gnomAD v4
18g.23540457C=CA2290166238NPC1c.2595G= (p.Ser865=)
n.2509G=
n.386G=
c.1673G=
c.2646G= (p.Ser882=)
c.2181G= (p.Ser727=)
18g.23540457C>GCA503322768NPC1c.2595G>C (p.Ser865=)
n.2509G>C
n.386G>C
c.1673G>C
c.2646G>C (p.Ser882=)
c.2181G>C (p.Ser727=)
18g.23540457C>TCA8913047NPC1c.2595G>A (p.Ser865=)
n.2509G>A
n.386G>A
c.1673G>A
c.2646G>A (p.Ser882=)
c.2181G>A (p.Ser727=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23540458G>ACA401793087NPC1c.2594C>T (p.Ser865Leu)
n.2508C>T
n.385C>T
c.1672C>T
c.2645C>T (p.Ser882Leu)
c.2180C>T (p.Ser727Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
18g.23540458G>CCA401793088NPC1c.2594C>G (p.Ser865Trp)
n.2508C>G
n.385C>G
c.1672C>G
c.2645C>G (p.Ser882Trp)
c.2180C>G (p.Ser727Trp)
18g.23540458G=CA2290166239NPC1c.2594C= (p.Ser865=)
n.2508C=
n.385C=
c.1672C=
c.2645C= (p.Ser882=)
c.2180C= (p.Ser727=)
18g.23540458G>TCA401793089NPC1c.2594C>A (p.Ser865Ter)
n.2508C>A
n.385C>A
c.1672C>A
c.2645C>A (p.Ser882Ter)
c.2180C>A (p.Ser727Ter)
 dbSNP gnomAD v2 gnomAD v4
18g.23540460_23540463delCA2641274348NPC1c.2591_2594del (p.Leu864ArgfsTer?)
n.2505_2508del
n.382_385del
c.1669_1672del
c.2642_2645del (p.Leu881ArgfsTer?)
c.2177_2180del (p.Leu726ArgfsTer?)
 ClinVar gnomAD v4
18g.23540459A=CA2290166240NPC1c.2593T= (p.Ser865=)
n.2507T=
n.384T=
c.1671T=
c.2644T= (p.Ser882=)
c.2179T= (p.Ser727=)
18g.23540459A>CCA401793090NPC1c.2593T>G (p.Ser865Ala)
n.2507T>G
n.384T>G
c.1671T>G
c.2644T>G (p.Ser882Ala)
c.2179T>G (p.Ser727Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23540459A>GCA401793091NPC1c.2593T>C (p.Ser865Pro)
n.2507T>C
n.384T>C
c.1671T>C
c.2644T>C (p.Ser882Pro)
c.2179T>C (p.Ser727Pro)
 ClinVar gnomAD v4
18g.23540459A>TCA297081771NPC1c.2593T>A (p.Ser865Thr)
n.2507T>A
n.384T>A
c.1671T>A
c.2644T>A (p.Ser882Thr)
c.2179T>A (p.Ser727Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23540461dupCA2641274352NPC1c.2593dup (p.Ser865PhefsTer5)
n.2507dup
n.384dup
c.1671dup
c.2644dup (p.Ser882PhefsTer5)
c.2179dup (p.Ser727PhefsTer5)
 gnomAD v4
18g.23540460A>CCA503322769NPC1c.2592T>G (p.Leu864=)
n.2506T>G
n.383T>G
c.1670T>G
c.2643T>G (p.Leu881=)
c.2178T>G (p.Leu726=)
18g.23540460A>GCA503322771NPC1c.2592T>C (p.Leu864=)
n.2506T>C
n.383T>C
c.1670T>C
c.2643T>C (p.Leu881=)
c.2178T>C (p.Leu726=)
18g.23540460A>TCA503322773NPC1c.2592T>A (p.Leu864=)
n.2506T>A
n.383T>A
c.1670T>A
c.2643T>A (p.Leu881=)
c.2178T>A (p.Leu726=)
18g.23540461A=CA2290166241NPC1c.2591T= (p.Leu864=)
n.2505T=
n.382T=
c.1669T=
c.2642T= (p.Leu881=)
c.2177T= (p.Leu726=)
18g.23540461A>CCA401793092NPC1c.2591T>G (p.Leu864Arg)
n.2505T>G
n.382T>G
c.1669T>G
c.2642T>G (p.Leu881Arg)
c.2177T>G (p.Leu726Arg)
18g.23540461A>GCA401793093NPC1c.2591T>C (p.Leu864Pro)
n.2505T>C
n.382T>C
c.1669T>C
c.2642T>C (p.Leu881Pro)
c.2177T>C (p.Leu726Pro)
 dbSNP gnomAD v2 gnomAD v4
18g.23540461A>TCA401793094NPC1c.2591T>A (p.Leu864His)
n.2505T>A
n.382T>A
c.1669T>A
c.2642T>A (p.Leu881His)
c.2177T>A (p.Leu726His)
18g.23540462G>ACA8913048NPC1c.2590C>T (p.Leu864Phe)
n.2504C>T
n.381C>T
c.1668C>T
c.2641C>T (p.Leu881Phe)
c.2176C>T (p.Leu726Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23540462G>CCA401793096NPC1c.2590C>G (p.Leu864Val)
n.2504C>G
n.381C>G
c.1668C>G
c.2641C>G (p.Leu881Val)
c.2176C>G (p.Leu726Val)
18g.23540462G=CA2290166242NPC1c.2590C= (p.Leu864=)
n.2504C=
n.381C=
c.1668C=
c.2641C= (p.Leu881=)
c.2176C= (p.Leu726=)
18g.23540462G>TCA401793095NPC1c.2590C>A (p.Leu864Ile)
n.2504C>A
n.381C>A
c.1668C>A
c.2641C>A (p.Leu881Ile)
c.2176C>A (p.Leu726Ile)
 dbSNP gnomAD v4
18g.23540463A>CCA503322775NPC1c.2589T>G (p.Ser863=)
n.2503T>G
n.380T>G
c.1667T>G
c.2640T>G (p.Ser880=)
c.2175T>G (p.Ser725=)
 gnomAD v4
18g.23540463A>GCA503322776NPC1c.2589T>C (p.Ser863=)
n.2503T>C
n.380T>C
c.1667T>C
c.2640T>C (p.Ser880=)
c.2175T>C (p.Ser725=)
18g.23540463A>TCA503322777NPC1c.2589T>A (p.Ser863=)
n.2503T>A
n.380T>A
c.1667T>A
c.2640T>A (p.Ser880=)
c.2175T>A (p.Ser725=)
 gnomAD v4
18g.23540464G>ACA401793097NPC1c.2588C>T (p.Ser863Phe)
n.2502C>T
n.379C>T
c.1666C>T
c.2639C>T (p.Ser880Phe)
c.2174C>T (p.Ser725Phe)
18g.23540464G>CCA401793098NPC1c.2588C>G (p.Ser863Cys)
n.2502C>G
n.379C>G
c.1666C>G
c.2639C>G (p.Ser880Cys)
c.2174C>G (p.Ser725Cys)
 gnomAD v4
18g.23540464G>TCA401793099NPC1c.2588C>A (p.Ser863Tyr)
n.2502C>A
n.379C>A
c.1666C>A
c.2639C>A (p.Ser880Tyr)
c.2174C>A (p.Ser725Tyr)
 gnomAD v4
18g.23540465A>CCA401793100NPC1c.2587T>G (p.Ser863Ala)
n.2501T>G
n.378T>G
c.1665T>G
c.2638T>G (p.Ser880Ala)
c.2173T>G (p.Ser725Ala)
18g.23540465A>GCA401793101NPC1c.2587T>C (p.Ser863Pro)
n.2501T>C
n.378T>C
c.1665T>C
c.2638T>C (p.Ser880Pro)
c.2173T>C (p.Ser725Pro)
18g.23540465A>TCA401793102NPC1c.2587T>A (p.Ser863Thr)
n.2501T>A
n.378T>A
c.1665T>A
c.2638T>A (p.Ser880Thr)
c.2173T>A (p.Ser725Thr)
18g.23540466C>ACA401793103NPC1c.2586G>T (p.Gln862His)
n.2500G>T
n.377G>T
c.1664G>T
c.2637G>T (p.Gln879His)
c.2172G>T (p.Gln724His)
 gnomAD v4
18g.23540466C>GCA401793104NPC1c.2586G>C (p.Gln862His)
n.2500G>C
n.377G>C
c.1664G>C
c.2637G>C (p.Gln879His)
c.2172G>C (p.Gln724His)
18g.23540466C>TCA503322779NPC1c.2586G>A (p.Gln862=)
n.2500G>A
n.377G>A
c.1664G>A
c.2637G>A (p.Gln879=)
c.2172G>A (p.Gln724=)
18g.23540467T>ACA401793105NPC1c.2585A>T (p.Gln862Leu)
n.2499A>T
n.376A>T
c.1663A>T
c.2636A>T (p.Gln879Leu)
c.2171A>T (p.Gln724Leu)
 gnomAD v4
18g.23540467T>CCA401793106NPC1c.2585A>G (p.Gln862Arg)
n.2499A>G
n.376A>G
c.1663A>G
c.2636A>G (p.Gln879Arg)
c.2171A>G (p.Gln724Arg)
 dbSNP gnomAD v4
18g.23540467T>GCA401793107NPC1c.2585A>C (p.Gln862Pro)
n.2499A>C
n.376A>C
c.1663A>C
c.2636A>C (p.Gln879Pro)
c.2171A>C (p.Gln724Pro)
 dbSNP gnomAD v3 gnomAD v4
18g.23540467T=CA2290166243NPC1c.2585A= (p.Gln862=)
n.2499A=
n.376A=
c.1663A=
c.2636A= (p.Gln879=)
c.2171A= (p.Gln724=)
18g.23540468G>ACA401793109NPC1c.2584C>T (p.Gln862Ter)
n.2498C>T
n.375C>T
c.1662C>T
c.2635C>T (p.Gln879Ter)
c.2170C>T (p.Gln724Ter)
18g.23540468G>CCA401793110NPC1c.2584C>G (p.Gln862Glu)
n.2498C>G
n.375C>G
c.1662C>G
c.2635C>G (p.Gln879Glu)
c.2170C>G (p.Gln724Glu)
18g.23540468G>TCA401793108NPC1c.2584C>A (p.Gln862Lys)
n.2498C>A
n.375C>A
c.1662C>A
c.2635C>A (p.Gln879Lys)
c.2170C>A (p.Gln724Lys)
 gnomAD v4
18g.23540469A>CCA401793111NPC1c.2583T>G (p.Asp861Glu)
n.2497T>G
n.374T>G
c.1661T>G
c.2634T>G (p.Asp878Glu)
c.2169T>G (p.Asp723Glu)
18g.23540469A>GCA503322780NPC1c.2583T>C (p.Asp861=)
n.2497T>C
n.374T>C
c.1661T>C
c.2634T>C (p.Asp878=)
c.2169T>C (p.Asp723=)
 gnomAD v4
18g.23540469A>TCA401793112NPC1c.2583T>A (p.Asp861Glu)
n.2497T>A
n.374T>A
c.1661T>A
c.2634T>A (p.Asp878Glu)
c.2169T>A (p.Asp723Glu)
 gnomAD v4
18g.23540476_23540480delCA2641274363NPC1c.2579_2583del (p.Leu860SerfsTer8)
n.2493_2497del
n.370_374del
c.1657_1661del
c.2630_2634del (p.Leu877SerfsTer8)
c.2165_2169del (p.Leu722SerfsTer8)
 gnomAD v4
18g.23540470T>ACA401793113NPC1c.2582A>T (p.Asp861Val)
n.2496A>T
n.373A>T
c.1660A>T
c.2633A>T (p.Asp878Val)
c.2168A>T (p.Asp723Val)
 gnomAD v4
18g.23540470T>CCA401793114NPC1c.2582A>G (p.Asp861Gly)
n.2496A>G
n.373A>G
c.1660A>G
c.2633A>G (p.Asp878Gly)
c.2168A>G (p.Asp723Gly)
18g.23540470T>GCA401793115NPC1c.2582A>C (p.Asp861Ala)
n.2496A>C
n.373A>C
c.1660A>C
c.2633A>C (p.Asp878Ala)
c.2168A>C (p.Asp723Ala)
18g.23540470T=CA2290166244NPC1c.2582A= (p.Asp861=)
n.2496A=
n.373A=
c.1660A=
c.2633A= (p.Asp878=)
c.2168A= (p.Asp723=)
18g.23540471C>ACA401793116NPC1c.2581G>T (p.Asp861Tyr)
n.2495G>T
n.372G>T
c.1659G>T
c.2632G>T (p.Asp878Tyr)
c.2167G>T (p.Asp723Tyr)
18g.23540471C>GCA401793117NPC1c.2581G>C (p.Asp861His)
n.2495G>C
n.372G>C
c.1659G>C
c.2632G>C (p.Asp878His)
c.2167G>C (p.Asp723His)
 gnomAD v4
18g.23540471C>TCA401793118NPC1c.2581G>A (p.Asp861Asn)
n.2495G>A
n.372G>A
c.1659G>A
c.2632G>A (p.Asp878Asn)
c.2167G>A (p.Asp723Asn)
18g.23540472dupCA2290166245NPC1c.2581dup (p.Asp861GlyfsTer9)
n.2495dup
n.372dup
c.1659dup
c.2632dup (p.Asp878GlyfsTer9)
c.2167dup (p.Asp723GlyfsTer9)
 dbSNP
18g.23540472C>ACA401793119NPC1c.2580G>T (p.Leu860Phe)
n.2494G>T
n.371G>T
c.1658G>T
c.2631G>T (p.Leu877Phe)
c.2166G>T (p.Leu722Phe)
 gnomAD v4
18g.23540472C>GCA401793120NPC1c.2580G>C (p.Leu860Phe)
n.2494G>C
n.371G>C
c.1658G>C
c.2631G>C (p.Leu877Phe)
c.2166G>C (p.Leu722Phe)
 gnomAD v4
18g.23540472C>TCA503322781NPC1c.2580G>A (p.Leu860=)
n.2494G>A
n.371G>A
c.1658G>A
c.2631G>A (p.Leu877=)
c.2166G>A (p.Leu722=)
18g.23540473A=CA2290166246NPC1c.2579T= (p.Leu860=)
n.2493T=
n.370T=
c.1657T=
c.2630T= (p.Leu877=)
c.2165T= (p.Leu722=)
18g.23540473A>CCA401793121NPC1c.2579T>G (p.Leu860Trp)
n.2493T>G
n.370T>G
c.1657T>G
c.2630T>G (p.Leu877Trp)
c.2165T>G (p.Leu722Trp)
18g.23540473A>GCA401793122NPC1c.2579T>C (p.Leu860Ser)
n.2493T>C
n.370T>C
c.1657T>C
c.2630T>C (p.Leu877Ser)
c.2165T>C (p.Leu722Ser)
 COSMIC
18g.23540473A>TCA401793123NPC1c.2579T>A (p.Leu860Ter)
n.2493T>A
n.370T>A
c.1657T>A
c.2630T>A (p.Leu877Ter)
c.2165T>A (p.Leu722Ter)
 ClinVar dbSNP
18g.23540474A=CA2290166247NPC1c.2578T= (p.Leu860=)
n.2492T=
n.369T=
c.1656T=
c.2629T= (p.Leu877=)
c.2164T= (p.Leu722=)
18g.23540474A>CCA401793124NPC1c.2578T>G (p.Leu860Val)
n.2492T>G
n.369T>G
c.1656T>G
c.2629T>G (p.Leu877Val)
c.2164T>G (p.Leu722Val)
18g.23540474A>GCA503322782NPC1c.2578T>C (p.Leu860=)
n.2492T>C
n.369T>C
c.1656T>C
c.2629T>C (p.Leu877=)
c.2164T>C (p.Leu722=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.23540474A>TCA401793125NPC1c.2578T>A (p.Leu860Met)
n.2492T>A
n.369T>A
c.1656T>A
c.2629T>A (p.Leu877Met)
c.2164T>A (p.Leu722Met)
18g.23540475delCA2641274368NPC1c.2577del (p.Leu860TrpfsTer?)
n.2491del
n.368del
c.1655del
c.2628del (p.Leu877TrpfsTer?)
c.2163del (p.Leu722TrpfsTer?)
 gnomAD v4
18g.23540475T>ACA503322783NPC1c.2577A>T (p.Gly859=)
n.2491A>T
n.368A>T
c.1655A>T
c.2628A>T (p.Gly876=)
c.2163A>T (p.Gly721=)
 gnomAD v4
18g.23540475T>CCA503322784NPC1c.2577A>G (p.Gly859=)
n.2491A>G
n.368A>G
c.1655A>G
c.2628A>G (p.Gly876=)
c.2163A>G (p.Gly721=)
 dbSNP gnomAD v2 gnomAD v4
18g.23540475T>GCA503322785NPC1c.2577A>C (p.Gly859=)
n.2491A>C
n.368A>C
c.1655A>C
c.2628A>C (p.Gly876=)
c.2163A>C (p.Gly721=)
18g.23540475T=CA2290166248NPC1c.2577A= (p.Gly859=)
n.2491A=
n.368A=
c.1655A=
c.2628A= (p.Gly876=)
c.2163A= (p.Gly721=)
18g.23540476C>ACA401793126NPC1c.2576G>T (p.Gly859Val)
n.2490G>T
n.367G>T
c.1654G>T
c.2627G>T (p.Gly876Val)
c.2162G>T (p.Gly721Val)
18g.23540476C>GCA401793127NPC1c.2576G>C (p.Gly859Ala)
n.2490G>C
n.367G>C
c.1654G>C
c.2627G>C (p.Gly876Ala)
c.2162G>C (p.Gly721Ala)
18g.23540476C>TCA401793128NPC1c.2576G>A (p.Gly859Glu)
n.2490G>A
n.367G>A
c.1654G>A
c.2627G>A (p.Gly876Glu)
c.2162G>A (p.Gly721Glu)
18g.23540477C>ACA401793129NPC1c.2575G>T (p.Gly859Ter)
n.2489G>T
n.366G>T
c.1653G>T
c.2626G>T (p.Gly876Ter)
c.2161G>T (p.Gly721Ter)
 ClinVar dbSNP gnomAD v4
18g.23540477C=CA2290166249NPC1c.2575G= (p.Gly859=)
n.2489G=
n.366G=
c.1653G=
c.2626G= (p.Gly876=)
c.2161G= (p.Gly721=)
18g.23540477C>GCA401793130NPC1c.2575G>C (p.Gly859Arg)
n.2489G>C
n.366G>C
c.1653G>C
c.2626G>C (p.Gly876Arg)
c.2161G>C (p.Gly721Arg)
 dbSNP gnomAD v3 gnomAD v4
18g.23540477C>TCA401793131NPC1c.2575G>A (p.Gly859Arg)
n.2489G>A
n.366G>A
c.1653G>A
c.2626G>A (p.Gly876Arg)
c.2161G>A (p.Gly721Arg)
18g.23540477_23540480delCA2641274371NPC1c.2572_2575del (p.Ile858AspfsTer?)
n.2486_2489del
n.363_366del
c.1650_1653del
c.2623_2626del (p.Ile875AspfsTer?)
c.2158_2161del (p.Ile720AspfsTer?)
 gnomAD v4
18g.23540478A>CCA401793132NPC1c.2574T>G (p.Ile858Met)
n.2488T>G
n.365T>G
c.1652T>G
c.2625T>G (p.Ile875Met)
c.2160T>G (p.Ile720Met)
18g.23540478A>GCA503322787NPC1c.2574T>C (p.Ile858=)
n.2488T>C
n.365T>C
c.1652T>C
c.2625T>C (p.Ile875=)
c.2160T>C (p.Ile720=)
18g.23540478A>TCA503322786NPC1c.2574T>A (p.Ile858=)
n.2488T>A
n.365T>A
c.1652T>A
c.2625T>A (p.Ile875=)
c.2160T>A (p.Ile720=)
18g.23540479A=CA2290166250NPC1c.2573T= (p.Ile858=)
n.2487T=
n.364T=
c.1651T=
c.2624T= (p.Ile875=)
c.2159T= (p.Ile720=)
18g.23540479A>CCA401793133NPC1c.2573T>G (p.Ile858Ser)
n.2487T>G
n.364T>G
c.1651T>G
c.2624T>G (p.Ile875Ser)
c.2159T>G (p.Ile720Ser)
18g.23540479A>GCA8913049NPC1c.2573T>C (p.Ile858Thr)
n.2487T>C
n.364T>C
c.1651T>C
c.2624T>C (p.Ile875Thr)
c.2159T>C (p.Ile720Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23540479A>TCA401793134NPC1c.2573T>A (p.Ile858Asn)
n.2487T>A
n.364T>A
c.1651T>A
c.2624T>A (p.Ile875Asn)
c.2159T>A (p.Ile720Asn)
18g.23540480T>ACA401793135NPC1c.2572A>T (p.Ile858Phe)
n.2486A>T
n.363A>T
c.1650A>T
c.2623A>T (p.Ile875Phe)
c.2158A>T (p.Ile720Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23540480T>CCA145957NPC1c.2572A>G (p.Ile858Val)
n.2486A>G
n.363A>G
c.1650A>G
c.2623A>G (p.Ile875Val)
c.2158A>G (p.Ile720Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23540480T>GCA401793136NPC1c.2572A>C (p.Ile858Leu)
n.2486A>C
n.363A>C
c.1650A>C
c.2623A>C (p.Ile875Leu)
c.2158A>C (p.Ile720Leu)
18g.23540480T=CA2290166251NPC1c.2572A= (p.Ile858=)
n.2486A=
n.363A=
c.1650A=
c.2623A= (p.Ile875=)
c.2158A= (p.Ile720=)
18g.23540480_23540481delinsCGCA2697555336NPC1c.2571_2572delinsCG (p.Ile858Val)
n.2485_2486delinsCG
n.362_363delinsCG
c.1649_1650delinsCG
c.2622_2623delinsCG (p.Ile875Val)
c.2157_2158delinsCG (p.Ile720Val)
 ClinVar
18g.23540481A>CCA401793138NPC1c.2571T>G (p.Asp857Glu)
n.2485T>G
n.362T>G
c.1649T>G
c.2622T>G (p.Asp874Glu)
c.2157T>G (p.Asp719Glu)
18g.23540481A>GCA503322788NPC1c.2571T>C (p.Asp857=)
n.2485T>C
n.362T>C
c.1649T>C
c.2622T>C (p.Asp874=)
c.2157T>C (p.Asp719=)
18g.23540481A>TCA401793137NPC1c.2571T>A (p.Asp857Glu)
n.2485T>A
n.362T>A
c.1649T>A
c.2622T>A (p.Asp874Glu)
c.2157T>A (p.Asp719Glu)
18g.23540482T>ACA401793139NPC1c.2570A>T (p.Asp857Val)
n.2484A>T
n.361A>T
c.1648A>T
c.2621A>T (p.Asp874Val)
c.2156A>T (p.Asp719Val)
18g.23540482T>CCA401793141NPC1c.2570A>G (p.Asp857Gly)
n.2484A>G
n.361A>G
c.1648A>G
c.2621A>G (p.Asp874Gly)
c.2156A>G (p.Asp719Gly)
18g.23540482T>GCA401793140NPC1c.2570A>C (p.Asp857Ala)
n.2484A>C
n.361A>C
c.1648A>C
c.2621A>C (p.Asp874Ala)
c.2156A>C (p.Asp719Ala)
18g.23540483C>ACA401793142NPC1c.2569G>T (p.Asp857Tyr)
n.2483G>T
n.360G>T
c.1647G>T
c.2620G>T (p.Asp874Tyr)
c.2155G>T (p.Asp719Tyr)
18g.23540483C>GCA401793143NPC1c.2569G>C (p.Asp857His)
n.2483G>C
n.360G>C
c.1647G>C
c.2620G>C (p.Asp874His)
c.2155G>C (p.Asp719His)
18g.23540483C>TCA401793144NPC1c.2569G>A (p.Asp857Asn)
n.2483G>A
n.360G>A
c.1647G>A
c.2620G>A (p.Asp874Asn)
c.2155G>A (p.Asp719Asn)
18g.23540484T>ACA503322789NPC1c.2568A>T (p.Val856=)
n.2482A>T
n.359A>T
c.1646A>T
c.2619A>T (p.Val873=)
c.2154A>T (p.Val718=)
18g.23540484T>CCA503322791NPC1c.2568A>G (p.Val856=)
n.2482A>G
n.359A>G
c.1646A>G
c.2619A>G (p.Val873=)
c.2154A>G (p.Val718=)
18g.23540484T>GCA503322790NPC1c.2568A>C (p.Val856=)
n.2482A>C
n.359A>C
c.1646A>C
c.2619A>C (p.Val873=)
c.2154A>C (p.Val718=)
 gnomAD v4
18g.23540485A=CA2290166252NPC1c.2567T= (p.Val856=)
n.2481T=
n.358T=
c.1645T=
c.2618T= (p.Val873=)
c.2153T= (p.Val718=)
18g.23540485A>CCA401793145NPC1c.2567T>G (p.Val856Gly)
n.2481T>G
n.358T>G
c.1645T>G
c.2618T>G (p.Val873Gly)
c.2153T>G (p.Val718Gly)
18g.23540485A>GCA401793146NPC1c.2567T>C (p.Val856Ala)
n.2481T>C
n.358T>C
c.1645T>C
c.2618T>C (p.Val873Ala)
c.2153T>C (p.Val718Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23540485A>TCA401793147NPC1c.2567T>A (p.Val856Glu)
n.2481T>A
n.358T>A
c.1645T>A
c.2618T>A (p.Val873Glu)
c.2153T>A (p.Val718Glu)
 gnomAD v4
18g.23540486C>ACA401793148NPC1c.2566G>T (p.Val856Leu)
n.2480G>T
n.357G>T
c.1644G>T
c.2617G>T (p.Val873Leu)
c.2152G>T (p.Val718Leu)
18g.23540486C>GCA401793149NPC1c.2566G>C (p.Val856Leu)
n.2480G>C
n.357G>C
c.1644G>C
c.2617G>C (p.Val873Leu)
c.2152G>C (p.Val718Leu)
18g.23540486C>TCA401793150NPC1c.2566G>A (p.Val856Ile)
n.2480G>A
n.357G>A
c.1644G>A
c.2617G>A (p.Val873Ile)
c.2152G>A (p.Val718Ile)
18g.23540487T>ACA401793151NPC1c.2565A>T (p.Lys855Asn)
n.2479A>T
n.356A>T
c.1643A>T
c.2616A>T (p.Lys872Asn)
c.2151A>T (p.Lys717Asn)
18g.23540487T>CCA8913050NPC1c.2565A>G (p.Lys855=)
n.2479A>G
n.356A>G
c.1643A>G
c.2616A>G (p.Lys872=)
c.2151A>G (p.Lys717=)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23540487T>GCA401793152NPC1c.2565A>C (p.Lys855Asn)
n.2479A>C
n.356A>C
c.1643A>C
c.2616A>C (p.Lys872Asn)
c.2151A>C (p.Lys717Asn)
18g.23540487T=CA2290166253NPC1c.2565A= (p.Lys855=)
n.2479A=
n.356A=
c.1643A=
c.2616A= (p.Lys872=)
c.2151A= (p.Lys717=)
18g.23540488T>ACA401793155NPC1c.2564A>T (p.Lys855Ile)
n.2478A>T
n.355A>T
c.1642A>T
c.2615A>T (p.Lys872Ile)
c.2150A>T (p.Lys717Ile)
18g.23540488T>CCA401793153NPC1c.2564A>G (p.Lys855Arg)
n.2478A>G
n.355A>G
c.1642A>G
c.2615A>G (p.Lys872Arg)
c.2150A>G (p.Lys717Arg)
 gnomAD v4
18g.23540488T>GCA401793154NPC1c.2564A>C (p.Lys855Thr)
n.2478A>C
n.355A>C
c.1642A>C
c.2615A>C (p.Lys872Thr)
c.2150A>C (p.Lys717Thr)
18g.23540489T>ACA401793156NPC1c.2563A>T (p.Lys855Ter)
n.2477A>T
n.354A>T
c.1641A>T
c.2614A>T (p.Lys872Ter)
c.2149A>T (p.Lys717Ter)
18g.23540489T>CCA401793157NPC1c.2563A>G (p.Lys855Glu)
n.2477A>G
n.354A>G
c.1641A>G
c.2614A>G (p.Lys872Glu)
c.2149A>G (p.Lys717Glu)
18g.23540489T>GCA401793158NPC1c.2563A>C (p.Lys855Gln)
n.2477A>C
n.354A>C
c.1641A>C
c.2614A>C (p.Lys872Gln)
c.2149A>C (p.Lys717Gln)
18g.23540490G>ACA503322792NPC1c.2562C>T (p.Asn854=)
n.2476C>T
n.353C>T
c.1640C>T
c.2613C>T (p.Asn871=)
c.2148C>T (p.Asn716=)
18g.23540490G>CCA401793159NPC1c.2562C>G (p.Asn854Lys)
n.2476C>G
n.353C>G
c.1640C>G
c.2613C>G (p.Asn871Lys)
c.2148C>G (p.Asn716Lys)
18g.23540490G>TCA401793160NPC1c.2562C>A (p.Asn854Lys)
n.2476C>A
n.353C>A
c.1640C>A
c.2613C>A (p.Asn871Lys)
c.2148C>A (p.Asn716Lys)
 gnomAD v4
18g.23540491T>ACA401793161NPC1c.2561A>T (p.Asn854Ile)
n.2475A>T
n.352A>T
c.1639A>T
c.2612A>T (p.Asn871Ile)
c.2147A>T (p.Asn716Ile)
18g.23540491T>CCA401793162NPC1c.2561A>G (p.Asn854Ser)
n.2475A>G
n.352A>G
c.1639A>G
c.2612A>G (p.Asn871Ser)
c.2147A>G (p.Asn716Ser)
 dbSNP gnomAD v4
18g.23540491T>GCA401793163NPC1c.2561A>C (p.Asn854Thr)
n.2475A>C
n.352A>C
c.1639A>C
c.2612A>C (p.Asn871Thr)
c.2147A>C (p.Asn716Thr)
18g.23540492T>ACA401793164NPC1c.2560A>T (p.Asn854Tyr)
n.2474A>T
n.351A>T
c.1638A>T
c.2611A>T (p.Asn871Tyr)
c.2146A>T (p.Asn716Tyr)
18g.23540492T>CCA401793165NPC1c.2560A>G (p.Asn854Asp)
n.2474A>G
n.351A>G
c.1638A>G
c.2611A>G (p.Asn871Asp)
c.2146A>G (p.Asn716Asp)
18g.23540492T>GCA401793166NPC1c.2560A>C (p.Asn854His)
n.2474A>C
n.351A>C
c.1638A>C
c.2611A>C (p.Asn871His)
c.2146A>C (p.Asn716His)
18g.23540493C>ACA503322793NPC1c.2559G>T (p.Leu853=)
n.2473G>T
n.350G>T
c.1637G>T
c.2610G>T (p.Leu870=)
c.2145G>T (p.Leu715=)
18g.23540493C>GCA503322794NPC1c.2559G>C (p.Leu853=)
n.2473G>C
n.350G>C
c.1637G>C
c.2610G>C (p.Leu870=)
c.2145G>C (p.Leu715=)
 COSMIC
18g.23540493C>TCA503322795NPC1c.2559G>A (p.Leu853=)
n.2473G>A
n.350G>A
c.1637G>A
c.2610G>A (p.Leu870=)
c.2145G>A (p.Leu715=)
18g.23540494A>CCA401793169NPC1c.2558T>G (p.Leu853Arg)
n.2472T>G
n.349T>G
c.1636T>G
c.2609T>G (p.Leu870Arg)
c.2144T>G (p.Leu715Arg)
18g.23540494A>GCA401793168NPC1c.2558T>C (p.Leu853Pro)
n.2472T>C
n.349T>C
c.1636T>C
c.2609T>C (p.Leu870Pro)
c.2144T>C (p.Leu715Pro)
18g.23540494A>TCA401793167NPC1c.2558T>A (p.Leu853Gln)
n.2472T>A
n.349T>A
c.1636T>A
c.2609T>A (p.Leu870Gln)
c.2144T>A (p.Leu715Gln)
18g.23540495G>ACA503322796NPC1c.2557C>T (p.Leu853=)
n.2471C>T
n.348C>T
c.1635C>T
c.2608C>T (p.Leu870=)
c.2143C>T (p.Leu715=)
 gnomAD v4
18g.23540495G>CCA401793170NPC1c.2557C>G (p.Leu853Val)
n.2471C>G
n.348C>G
c.1635C>G
c.2608C>G (p.Leu870Val)
c.2143C>G (p.Leu715Val)
 dbSNP gnomAD v4
18g.23540495G=CA2290166254NPC1c.2557C= (p.Leu853=)
n.2471C=
n.348C=
c.1635C=
c.2608C= (p.Leu870=)
c.2143C= (p.Leu715=)
18g.23540495G>TCA401793171NPC1c.2557C>A (p.Leu853Met)
n.2471C>A
n.348C>A
c.1635C>A
c.2608C>A (p.Leu870Met)
c.2143C>A (p.Leu715Met)
 gnomAD v4
18g.23540496G>ACA8913051NPC1c.2556C>T (p.Val852=)
n.2470C>T
n.347C>T
c.1634C>T
c.2607C>T (p.Val869=)
c.2142C>T (p.Val714=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.23540496G>CCA503322797NPC1c.2556C>G (p.Val852=)
n.2470C>G
n.347C>G
c.1634C>G
c.2607C>G (p.Val869=)
c.2142C>G (p.Val714=)
 ClinVar dbSNP
18g.23540496G=CA2290166255NPC1c.2556C= (p.Val852=)
n.2470C=
n.347C=
c.1634C=
c.2607C= (p.Val869=)
c.2142C= (p.Val714=)
18g.23540496G>TCA503322798NPC1c.2556C>A (p.Val852=)
n.2470C>A
n.347C>A
c.1634C>A
c.2607C>A (p.Val869=)
c.2142C>A (p.Val714=)
 dbSNP
18g.23540497A>CCA401793172NPC1c.2555T>G (p.Val852Gly)
n.2469T>G
n.346T>G
c.1633T>G
c.2606T>G (p.Val869Gly)
c.2141T>G (p.Val714Gly)
18g.23540497A>GCA401793173NPC1c.2555T>C (p.Val852Ala)
n.2469T>C
n.346T>C
c.1633T>C
c.2606T>C (p.Val869Ala)
c.2141T>C (p.Val714Ala)
18g.23540497A>TCA401793174NPC1c.2555T>A (p.Val852Asp)
n.2469T>A
n.346T>A
c.1633T>A
c.2606T>A (p.Val869Asp)
c.2141T>A (p.Val714Asp)
18g.23540498C>ACA8913052NPC1c.2554G>T (p.Val852Phe)
n.2468G>T
n.345G>T
c.1632G>T
c.2605G>T (p.Val869Phe)
c.2140G>T (p.Val714Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23540498C=CA2290166256NPC1c.2554G= (p.Val852=)
n.2468G=
n.345G=
c.1632G=
c.2605G= (p.Val869=)
c.2140G= (p.Val714=)
18g.23540498C>GCA401793175NPC1c.2554G>C (p.Val852Leu)
n.2468G>C
n.345G>C
c.1632G>C
c.2605G>C (p.Val869Leu)
c.2140G>C (p.Val714Leu)
 gnomAD v4
18g.23540498C>TCA401793176NPC1c.2554G>A (p.Val852Ile)
n.2468G>A
n.345G>A
c.1632G>A
c.2605G>A (p.Val869Ile)
c.2140G>A (p.Val714Ile)
18g.23540499T>ACA503322800NPC1c.2553A>T (p.Ala851=)
n.2467A>T
n.344A>T
c.1631A>T
c.2604A>T (p.Ala868=)
c.2139A>T (p.Ala713=)
18g.23540499T>CCA8913053NPC1c.2553A>G (p.Ala851=)
n.2467A>G
n.344A>G
c.1631A>G
c.2604A>G (p.Ala868=)
c.2139A>G (p.Ala713=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.23540499T>GCA503322799NPC1c.2553A>C (p.Ala851=)
n.2467A>C
n.344A>C
c.1631A>C
c.2604A>C (p.Ala868=)
c.2139A>C (p.Ala713=)
18g.23540499T=CA2290166257NPC1c.2553A= (p.Ala851=)
n.2467A=
n.344A=
c.1631A=
c.2604A= (p.Ala868=)
c.2139A= (p.Ala713=)
18g.23540500G>ACA401793177NPC1c.2552C>T (p.Ala851Val)
n.2466C>T
n.343C>T
c.1630C>T
c.2603C>T (p.Ala868Val)
c.2138C>T (p.Ala713Val)
 gnomAD v4
18g.23540500G>CCA401793178NPC1c.2552C>G (p.Ala851Gly)
n.2466C>G
n.343C>G
c.1630C>G
c.2603C>G (p.Ala868Gly)
c.2138C>G (p.Ala713Gly)
18g.23540500G>TCA401793179NPC1c.2552C>A (p.Ala851Glu)
n.2466C>A
n.343C>A
c.1630C>A
c.2603C>A (p.Ala868Glu)
c.2138C>A (p.Ala713Glu)
 gnomAD v4
18g.23540501C>ACA401793181NPC1c.2551G>T (p.Ala851Ser)
n.2465G>T
n.342G>T
c.1629G>T
c.2602G>T (p.Ala868Ser)
c.2137G>T (p.Ala713Ser)
 dbSNP COSMIC COSMIC
18g.23540501C=CA2290166258NPC1c.2551G= (p.Ala851=)
n.2465G=
n.342G=
c.1629G=
c.2602G= (p.Ala868=)
c.2137G= (p.Ala713=)
18g.23540501C>GCA401793180NPC1c.2551G>C (p.Ala851Pro)
n.2465G>C
n.342G>C
c.1629G>C
c.2602G>C (p.Ala868Pro)
c.2137G>C (p.Ala713Pro)
18g.23540501C>TCA8913054NPC1c.2551G>A (p.Ala851Thr)
n.2465G>A
n.342G>A
c.1629G>A
c.2602G>A (p.Ala868Thr)
c.2137G>A (p.Ala713Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23540502G>ACA297081821NPC1c.2550C>T (p.Ile850=)
n.2464C>T
n.341C>T
c.1628C>T
c.2601C>T (p.Ile867=)
c.2136C>T (p.Ile712=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23540502G>CCA8913055NPC1c.2550C>G (p.Ile850Met)
n.2464C>G
n.341C>G
c.1628C>G
c.2601C>G (p.Ile867Met)
c.2136C>G (p.Ile712Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23540502G=CA2290166259NPC1c.2550C= (p.Ile850=)
n.2464C=
n.341C=
c.1628C=
c.2601C= (p.Ile867=)
c.2136C= (p.Ile712=)
18g.23540502G>TCA503322801NPC1c.2550C>A (p.Ile850=)
n.2464C>A
n.341C>A
c.1628C>A
c.2601C>A (p.Ile867=)
c.2136C>A (p.Ile712=)
 gnomAD v4
18g.23540503A>CCA401793182NPC1c.2549T>G (p.Ile850Ser)
n.2463T>G
n.340T>G
c.1627T>G
c.2600T>G (p.Ile867Ser)
c.2135T>G (p.Ile712Ser)
18g.23540503A>GCA401793183NPC1c.2549T>C (p.Ile850Thr)
n.2463T>C
n.340T>C
c.1627T>C
c.2600T>C (p.Ile867Thr)
c.2135T>C (p.Ile712Thr)
18g.23540503A>TCA401793184NPC1c.2549T>A (p.Ile850Asn)
n.2463T>A
n.340T>A
c.1627T>A
c.2600T>A (p.Ile867Asn)
c.2135T>A (p.Ile712Asn)
18g.23540504T>ACA401793185NPC1c.2548A>T (p.Ile850Phe)
n.2462A>T
n.339A>T
c.1626A>T
c.2599A>T (p.Ile867Phe)
c.2134A>T (p.Ile712Phe)
18g.23540504T>CCA401793186NPC1c.2548A>G (p.Ile850Val)
n.2462A>G
n.339A>G
c.1626A>G
c.2599A>G (p.Ile867Val)
c.2134A>G (p.Ile712Val)
18g.23540504T>GCA401793187NPC1c.2548A>C (p.Ile850Leu)
n.2462A>C
n.339A>C
c.1626A>C
c.2599A>C (p.Ile867Leu)
c.2134A>C (p.Ile712Leu)
18g.23540505G>ACA503322802NPC1c.2547C>T (p.Ser849=)
n.2461C>T
n.338C>T
c.1625C>T
c.2598C>T (p.Ser866=)
c.2133C>T (p.Ser711=)
 dbSNP gnomAD v4
18g.23540505G>CCA401793188NPC1c.2547C>G (p.Ser849Arg)
n.2461C>G
n.338C>G
c.1625C>G
c.2598C>G (p.Ser866Arg)
c.2133C>G (p.Ser711Arg)
18g.23540505G=CA2290166260NPC1c.2547C= (p.Ser849=)
n.2461C=
n.338C=
c.1625C=
c.2598C= (p.Ser866=)
c.2133C= (p.Ser711=)
18g.23540505G>TCA401793189NPC1c.2547C>A (p.Ser849Arg)
n.2461C>A
n.338C>A
c.1625C>A
c.2598C>A (p.Ser866Arg)
c.2133C>A (p.Ser711Arg)
18g.23540506C>ACA16043892NPC1c.2546G>T (p.Ser849Ile)
n.2460G>T
n.337G>T
c.1624G>T
c.2597G>T (p.Ser866Ile)
c.2132G>T (p.Ser711Ile)
 ClinVar dbSNP
18g.23540506C=CA2290166261NPC1c.2546G= (p.Ser849=)
n.2460G=
n.337G=
c.1624G=
c.2597G= (p.Ser866=)
c.2132G= (p.Ser711=)
18g.23540506C>GCA401793190NPC1c.2546G>C (p.Ser849Thr)
n.2460G>C
n.337G>C
c.1624G>C
c.2597G>C (p.Ser866Thr)
c.2132G>C (p.Ser711Thr)
18g.23540506C>TCA401793191NPC1c.2546G>A (p.Ser849Asn)
n.2460G>A
n.337G>A
c.1624G>A
c.2597G>A (p.Ser866Asn)
c.2132G>A (p.Ser711Asn)
 gnomAD v4 COSMIC COSMIC
18g.23540507T>ACA401793193NPC1c.2545A>T (p.Ser849Cys)
n.2459A>T
n.336A>T
c.1623A>T
c.2596A>T (p.Ser866Cys)
c.2131A>T (p.Ser711Cys)
18g.23540507T>CCA401793194NPC1c.2545A>G (p.Ser849Gly)
n.2459A>G
n.336A>G
c.1623A>G
c.2596A>G (p.Ser866Gly)
c.2131A>G (p.Ser711Gly)
18g.23540507T>GCA401793192NPC1c.2545A>C (p.Ser849Arg)
n.2459A>C
n.336A>C
c.1623A>C
c.2596A>C (p.Ser866Arg)
c.2131A>C (p.Ser711Arg)

Number of alleles fetched