Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.23532378_23536675delCA913190465NPC1c.3243_3755-94del
c.2321_2833-94del
c.3294_3805+977del
c.3294_3806-94del
c.3243_3754+977del
c.2829_3340+977del
 ClinVar
18g.23535650A>CCA401791504NPC1c.3296T>G (p.Ile1099Ser)
c.51T>G
n.51T>G
c.2374T>G
c.3347T>G (p.Ile1116Ser)
c.2882T>G (p.Ile961Ser)
18g.23535650A>GCA401791502NPC1c.3296T>C (p.Ile1099Thr)
c.51T>C
n.51T>C
c.2374T>C
c.3347T>C (p.Ile1116Thr)
c.2882T>C (p.Ile961Thr)
18g.23535650A>TCA401791503NPC1c.3296T>A (p.Ile1099Asn)
c.51T>A
n.51T>A
c.2374T>A
c.3347T>A (p.Ile1116Asn)
c.2882T>A (p.Ile961Asn)
18g.23535651T>ACA401791505NPC1c.3295A>T (p.Ile1099Phe)
c.50A>T
n.50A>T
c.2373A>T
c.3346A>T (p.Ile1116Phe)
c.2881A>T (p.Ile961Phe)
18g.23535651T>CCA297079240NPC1c.3295A>G (p.Ile1099Val)
c.50A>G
n.50A>G
c.2373A>G
c.3346A>G (p.Ile1116Val)
c.2881A>G (p.Ile961Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.23535651T>GCA297079243NPC1c.3295A>C (p.Ile1099Leu)
c.50A>C
n.50A>C
c.2373A>C
c.3346A>C (p.Ile1116Leu)
c.2881A>C (p.Ile961Leu)
 dbSNP gnomAD v4
18g.23535651T=CA2290163932NPC1c.3295A= (p.Ile1099=)
c.50A=
n.50A=
c.2373A=
c.3346A= (p.Ile1116=)
c.2881A= (p.Ile961=)
18g.23535652A=CA2290163933NPC1c.3294T= (p.Thr1098=)
c.49T=
n.49T=
c.2372T=
c.3345T= (p.Thr1115=)
c.2880T= (p.Thr960=)
18g.23535652A>CCA503521762NPC1c.3294T>G (p.Thr1098=)
c.49T>G
n.49T>G
c.2372T>G
c.3345T>G (p.Thr1115=)
c.2880T>G (p.Thr960=)
18g.23535652A>GCA8912803NPC1c.3294T>C (p.Thr1098=)
c.49T>C
n.49T>C
c.2372T>C
c.3345T>C (p.Thr1115=)
c.2880T>C (p.Thr960=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23535652A>TCA503521761NPC1c.3294T>A (p.Thr1098=)
c.49T>A
n.49T>A
c.2372T>A
c.3345T>A (p.Thr1115=)
c.2880T>A (p.Thr960=)
18g.23535652dupCA2499225057NPC1c.3294dup (p.Ile1099TyrfsTer22)
c.49dup
n.49dup
c.2372dup
c.3345dup (p.Ile1116TyrfsTer22)
c.2880dup (p.Ile961TyrfsTer22)
 ClinVar dbSNP
18g.23535653G>ACA8912804NPC1c.3293C>T (p.Thr1098Ile)
c.48C>T
n.48C>T
c.2371C>T
c.3344C>T (p.Thr1115Ile)
c.2879C>T (p.Thr960Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.23535653G>CCA401791506NPC1c.3293C>G (p.Thr1098Ser)
c.48C>G
n.48C>G
c.2371C>G
c.3344C>G (p.Thr1115Ser)
c.2879C>G (p.Thr960Ser)
18g.23535653G=CA2290163934NPC1c.3293C= (p.Thr1098=)
c.48C=
n.48C=
c.2371C=
c.3344C= (p.Thr1115=)
c.2879C= (p.Thr960=)
18g.23535653G>TCA401791507NPC1c.3293C>A (p.Thr1098Asn)
c.48C>A
n.48C>A
c.2371C>A
c.3344C>A (p.Thr1115Asn)
c.2879C>A (p.Thr960Asn)
 ClinVar dbSNP gnomAD v4
18g.23535654T>ACA401791508NPC1c.3292A>T (p.Thr1098Ser)
c.47A>T
n.47A>T
c.2370A>T
c.3343A>T (p.Thr1115Ser)
c.2878A>T (p.Thr960Ser)
18g.23535654T>CCA8912805NPC1c.3292A>G (p.Thr1098Ala)
c.47A>G
n.47A>G
c.2370A>G
c.3343A>G (p.Thr1115Ala)
c.2878A>G (p.Thr960Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23535654T>GCA401791509NPC1c.3292A>C (p.Thr1098Pro)
c.47A>C
n.47A>C
c.2370A>C
c.3343A>C (p.Thr1115Pro)
c.2878A>C (p.Thr960Pro)
18g.23535654T=CA2290163935NPC1c.3292A= (p.Thr1098=)
c.47A=
n.47A=
c.2370A=
c.3343A= (p.Thr1115=)
c.2878A= (p.Thr960=)
18g.23535655G>ACA503521766NPC1c.3291C>T (p.Asp1097=)
c.46C>T
n.46C>T
c.2369C>T
c.3342C>T (p.Asp1114=)
c.2877C>T (p.Asp959=)
 ClinVar dbSNP
18g.23535655G>CCA401791510NPC1c.3291C>G (p.Asp1097Glu)
c.46C>G
n.46C>G
c.2369C>G
c.3342C>G (p.Asp1114Glu)
c.2877C>G (p.Asp959Glu)
 ClinVar
18g.23535655G>TCA401791511NPC1c.3291C>A (p.Asp1097Glu)
c.46C>A
n.46C>A
c.2369C>A
c.3342C>A (p.Asp1114Glu)
c.2877C>A (p.Asp959Glu)
18g.23535658_23535660delCA2695227424NPC1c.3289_3291del (p.Asp1097del)
c.44_46del
n.44_46del
c.2367_2369del
c.3340_3342del (p.Asp1114del)
c.2875_2877del (p.Asp959del)
18g.23535656T>ACA401791513NPC1c.3290A>T (p.Asp1097Val)
c.45A>T
n.45A>T
c.2368A>T
c.3341A>T (p.Asp1114Val)
c.2876A>T (p.Asp959Val)
18g.23535656T>CCA401791514NPC1c.3290A>G (p.Asp1097Gly)
c.45A>G
n.45A>G
c.2368A>G
c.3341A>G (p.Asp1114Gly)
c.2876A>G (p.Asp959Gly)
 dbSNP gnomAD v2 gnomAD v4
18g.23535656T>GCA401791512NPC1c.3290A>C (p.Asp1097Ala)
c.45A>C
n.45A>C
c.2368A>C
c.3341A>C (p.Asp1114Ala)
c.2876A>C (p.Asp959Ala)
18g.23535656T=CA2290163936NPC1c.3290A= (p.Asp1097=)
c.45A=
n.45A=
c.2368A=
c.3341A= (p.Asp1114=)
c.2876A= (p.Asp959=)
18g.23535657C>ACA401791515NPC1c.3289G>T (p.Asp1097Tyr)
c.44G>T
n.44G>T
c.2367G>T
c.3340G>T (p.Asp1114Tyr)
c.2875G>T (p.Asp959Tyr)
18g.23535657C=CA2290163937NPC1c.3289G= (p.Asp1097=)
c.44G=
n.44G=
c.2367G=
c.3340G= (p.Asp1114=)
c.2875G= (p.Asp959=)
18g.23535657C>GCA401791516NPC1c.3289G>C (p.Asp1097His)
c.44G>C
n.44G>C
c.2367G>C
c.3340G>C (p.Asp1114His)
c.2875G>C (p.Asp959His)
18g.23535657C>TCA297079250NPC1c.3289G>A (p.Asp1097Asn)
c.44G>A
n.44G>A
c.2367G>A
c.3340G>A (p.Asp1114Asn)
c.2875G>A (p.Asp959Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23535658G>ACA8912806NPC1c.3288C>T (p.Asp1096=)
c.43C>T
n.43C>T
c.2366C>T
c.3339C>T (p.Asp1113=)
c.2874C>T (p.Asp958=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
18g.23535658G>CCA401791517NPC1c.3288C>G (p.Asp1096Glu)
c.43C>G
n.43C>G
c.2366C>G
c.3339C>G (p.Asp1113Glu)
c.2874C>G (p.Asp958Glu)
18g.23535658G=CA2290163938NPC1c.3288C= (p.Asp1096=)
c.43C=
n.43C=
c.2366C=
c.3339C= (p.Asp1113=)
c.2874C= (p.Asp958=)
18g.23535658G>TCA401791518NPC1c.3288C>A (p.Asp1096Glu)
c.43C>A
n.43C>A
c.2366C>A
c.3339C>A (p.Asp1113Glu)
c.2874C>A (p.Asp958Glu)
18g.23535659T>ACA401791519NPC1c.3287A>T (p.Asp1096Val)
c.42A>T
n.42A>T
c.2365A>T
c.3338A>T (p.Asp1113Val)
c.2873A>T (p.Asp958Val)
18g.23535659T>CCA401791520NPC1c.3287A>G (p.Asp1096Gly)
c.42A>G
n.42A>G
c.2365A>G
c.3338A>G (p.Asp1113Gly)
c.2873A>G (p.Asp958Gly)
18g.23535659T>GCA401791521NPC1c.3287A>C (p.Asp1096Ala)
c.42A>C
n.42A>C
c.2365A>C
c.3338A>C (p.Asp1113Ala)
c.2873A>C (p.Asp958Ala)
18g.23535660C>ACA401791522NPC1c.3286G>T (p.Asp1096Tyr)
c.41G>T
n.41G>T
c.2364G>T
c.3337G>T (p.Asp1113Tyr)
c.2872G>T (p.Asp958Tyr)
18g.23535660C=CA2290163939NPC1c.3286G= (p.Asp1096=)
c.41G=
n.41G=
c.2364G=
c.3337G= (p.Asp1113=)
c.2872G= (p.Asp958=)
18g.23535660C>GCA401791523NPC1c.3286G>C (p.Asp1096His)
c.41G>C
n.41G>C
c.2364G>C
c.3337G>C (p.Asp1113His)
c.2872G>C (p.Asp958His)
18g.23535660C>TCA401791524NPC1c.3286G>A (p.Asp1096Asn)
c.41G>A
n.41G>A
c.2364G>A
c.3337G>A (p.Asp1113Asn)
c.2872G>A (p.Asp958Asn)
 dbSNP
18g.23535661A>CCA401791525NPC1c.3285T>G (p.Ile1095Met)
c.40T>G
n.40T>G
c.2363T>G
c.3336T>G (p.Ile1112Met)
c.2871T>G (p.Ile957Met)
18g.23535661A>GCA503521770NPC1c.3285T>C (p.Ile1095=)
c.40T>C
n.40T>C
c.2363T>C
c.3336T>C (p.Ile1112=)
c.2871T>C (p.Ile957=)
 gnomAD v4
18g.23535661A>TCA503521771NPC1c.3285T>A (p.Ile1095=)
c.40T>A
n.40T>A
c.2363T>A
c.3336T>A (p.Ile1112=)
c.2871T>A (p.Ile957=)
18g.23535662_23535665delCA645600321NPC1c.3282_3285del (p.Ile1094MetfsTer18)
c.37_40del
n.37_40del
c.2360_2363del
c.3333_3336del (p.Ile1111MetfsTer18)
c.2868_2871del (p.Ile956MetfsTer18)
 COSMIC
18g.23535662A=CA2290163940NPC1c.3284T= (p.Ile1095=)
c.39T=
n.39T=
c.2362T=
c.3335T= (p.Ile1112=)
c.2870T= (p.Ile957=)
18g.23535662A>CCA401791527NPC1c.3284T>G (p.Ile1095Ser)
c.39T>G
n.39T>G
c.2362T>G
c.3335T>G (p.Ile1112Ser)
c.2870T>G (p.Ile957Ser)
 gnomAD v4
18g.23535662A>GCA8912807NPC1c.3284T>C (p.Ile1095Thr)
c.39T>C
n.39T>C
c.2362T>C
c.3335T>C (p.Ile1112Thr)
c.2870T>C (p.Ile957Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23535662A>TCA401791526NPC1c.3284T>A (p.Ile1095Asn)
c.39T>A
n.39T>A
c.2362T>A
c.3335T>A (p.Ile1112Asn)
c.2870T>A (p.Ile957Asn)
 gnomAD v4
18g.23535665_23535667delCA2580612681NPC1c.3282_3284del (p.Ile1095del)
c.37_39del
n.37_39del
c.2360_2362del
c.3333_3335del (p.Ile1112del)
c.2868_2870del (p.Ile957del)
 ClinVar
18g.23535663T>ACA401791528NPC1c.3283A>T (p.Ile1095Phe)
c.38A>T
n.38A>T
c.2361A>T
c.3334A>T (p.Ile1112Phe)
c.2869A>T (p.Ile957Phe)
18g.23535663T>CCA401791529NPC1c.3283A>G (p.Ile1095Val)
c.38A>G
n.38A>G
c.2361A>G
c.3334A>G (p.Ile1112Val)
c.2869A>G (p.Ile957Val)
 ClinVar dbSNP
18g.23535663T>GCA401791531NPC1c.3283A>C (p.Ile1095Leu)
c.38A>C
n.38A>C
c.2361A>C
c.3334A>C (p.Ile1112Leu)
c.2869A>C (p.Ile957Leu)
 gnomAD v4
18g.23535664G>ACA503521776NPC1c.3282C>T (p.Ile1094=)
c.37C>T
n.37C>T
c.2360C>T
c.3333C>T (p.Ile1111=)
c.2868C>T (p.Ile956=)
18g.23535664G>CCA401791532NPC1c.3282C>G (p.Ile1094Met)
c.37C>G
n.37C>G
c.2360C>G
c.3333C>G (p.Ile1111Met)
c.2868C>G (p.Ile956Met)
18g.23535664G>TCA503521777NPC1c.3282C>A (p.Ile1094=)
c.37C>A
n.37C>A
c.2360C>A
c.3333C>A (p.Ile1111=)
c.2868C>A (p.Ile956=)
18g.23535665delCA2580095550NPC1c.3281del (p.Ile1094ThrfsTer19)
c.36del
n.36del
c.2359del
c.3332del (p.Ile1111ThrfsTer19)
c.2867del (p.Ile956ThrfsTer19)
 ClinVar
18g.23535665A=CA2290163941NPC1c.3281T= (p.Ile1094=)
c.36T=
n.36T=
c.2359T=
c.3332T= (p.Ile1111=)
c.2867T= (p.Ile956=)
18g.23535665A>CCA401791533NPC1c.3281T>G (p.Ile1094Ser)
c.36T>G
n.36T>G
c.2359T>G
c.3332T>G (p.Ile1111Ser)
c.2867T>G (p.Ile956Ser)
18g.23535665A>GCA401791534NPC1c.3281T>C (p.Ile1094Thr)
c.36T>C
n.36T>C
c.2359T>C
c.3332T>C (p.Ile1111Thr)
c.2867T>C (p.Ile956Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.23535665A>TCA401791535NPC1c.3281T>A (p.Ile1094Asn)
c.36T>A
n.36T>A
c.2359T>A
c.3332T>A (p.Ile1111Asn)
c.2867T>A (p.Ile956Asn)
18g.23535666delCA2576470866NPC1c.3280del (p.Ile1094SerfsTer19)
c.35del
n.35del
c.2358del
c.3331del (p.Ile1111SerfsTer19)
c.2866del (p.Ile956SerfsTer19)
18g.23535666T>ACA401791536NPC1c.3280A>T (p.Ile1094Phe)
c.35A>T
n.35A>T
c.2358A>T
c.3331A>T (p.Ile1111Phe)
c.2866A>T (p.Ile956Phe)
18g.23535666T>CCA401791537NPC1c.3280A>G (p.Ile1094Val)
c.35A>G
n.35A>G
c.2358A>G
c.3331A>G (p.Ile1111Val)
c.2866A>G (p.Ile956Val)
18g.23535666T>GCA401791538NPC1c.3280A>C (p.Ile1094Leu)
c.35A>C
n.35A>C
c.2358A>C
c.3331A>C (p.Ile1111Leu)
c.2866A>C (p.Ile956Leu)
18g.23535667_23535669delCA2811814221NPC1c.3278_3280del (p.Thr1093del)
c.33_35del
n.33_35del
c.2356_2358del
c.3329_3331del (p.Thr1110del)
c.2864_2866del (p.Thr955del)
18g.23535667G>ACA503521781NPC1c.3279C>T (p.Thr1093=)
c.34C>T
n.34C>T
c.2357C>T
c.3330C>T (p.Thr1110=)
c.2865C>T (p.Thr955=)
18g.23535667G>CCA503521782NPC1c.3279C>G (p.Thr1093=)
c.34C>G
n.34C>G
c.2357C>G
c.3330C>G (p.Thr1110=)
c.2865C>G (p.Thr955=)
18g.23535667G>TCA503521783NPC1c.3279C>A (p.Thr1093=)
c.34C>A
n.34C>A
c.2357C>A
c.3330C>A (p.Thr1110=)
c.2865C>A (p.Thr955=)
18g.23535668G>ACA401791539NPC1c.3278C>T (p.Thr1093Ile)
c.33C>T
n.33C>T
c.2356C>T
c.3329C>T (p.Thr1110Ile)
c.2864C>T (p.Thr955Ile)
18g.23535668G>CCA401791540NPC1c.3278C>G (p.Thr1093Ser)
c.33C>G
n.33C>G
c.2356C>G
c.3329C>G (p.Thr1110Ser)
c.2864C>G (p.Thr955Ser)
18g.23535668G>TCA401791541NPC1c.3278C>A (p.Thr1093Asn)
c.33C>A
n.33C>A
c.2356C>A
c.3329C>A (p.Thr1110Asn)
c.2864C>A (p.Thr955Asn)
18g.23535669T>ACA401791544NPC1c.3277A>T (p.Thr1093Ser)
c.32A>T
n.32A>T
c.2355A>T
c.3328A>T (p.Thr1110Ser)
c.2863A>T (p.Thr955Ser)
18g.23535669T>CCA401791543NPC1c.3277A>G (p.Thr1093Ala)
c.32A>G
n.32A>G
c.2355A>G
c.3328A>G (p.Thr1110Ala)
c.2863A>G (p.Thr955Ala)
 dbSNP gnomAD v4
18g.23535669T>GCA401791542NPC1c.3277A>C (p.Thr1093Pro)
c.32A>C
n.32A>C
c.2355A>C
c.3328A>C (p.Thr1110Pro)
c.2863A>C (p.Thr955Pro)
18g.23535669T=CA2290163942NPC1c.3277A= (p.Thr1093=)
c.32A=
n.32A=
c.2355A=
c.3328A= (p.Thr1110=)
c.2863A= (p.Thr955=)
18g.23535669_23535670delCA2580095553NPC1c.3276_3277del (p.Thr1093HisfsTer3)
c.31_32del
n.31_32del
c.2354_2355del
c.3327_3328del (p.Thr1110HisfsTer3)
c.2862_2863del (p.Thr955HisfsTer3)
 ClinVar
18g.23535670C>ACA503521785NPC1c.3276G>T (p.Leu1092=)
c.31G>T
n.31G>T
c.2354G>T
c.3327G>T (p.Leu1109=)
c.2862G>T (p.Leu954=)
18g.23535670C>GCA503521786NPC1c.3276G>C (p.Leu1092=)
c.31G>C
n.31G>C
c.2354G>C
c.3327G>C (p.Leu1109=)
c.2862G>C (p.Leu954=)
18g.23535670C>TCA503521787NPC1c.3276G>A (p.Leu1092=)
c.31G>A
n.31G>A
c.2354G>A
c.3327G>A (p.Leu1109=)
c.2862G>A (p.Leu954=)
18g.23535671A>CCA401791545NPC1c.3275T>G (p.Leu1092Arg)
c.30T>G
n.30T>G
c.2353T>G
c.3326T>G (p.Leu1109Arg)
c.2861T>G (p.Leu954Arg)
18g.23535671A>GCA401791547NPC1c.3275T>C (p.Leu1092Pro)
c.30T>C
n.30T>C
c.2353T>C
c.3326T>C (p.Leu1109Pro)
c.2861T>C (p.Leu954Pro)
18g.23535671A>TCA401791546NPC1c.3275T>A (p.Leu1092Gln)
c.30T>A
n.30T>A
c.2353T>A
c.3326T>A (p.Leu1109Gln)
c.2861T>A (p.Leu954Gln)
18g.23535672G>ACA503521789NPC1c.3274C>T (p.Leu1092=)
c.29C>T
n.29C>T
c.2352C>T
c.3325C>T (p.Leu1109=)
c.2860C>T (p.Leu954=)
 gnomAD v4
18g.23535672G>CCA401791548NPC1c.3274C>G (p.Leu1092Val)
c.29C>G
n.29C>G
c.2352C>G
c.3325C>G (p.Leu1109Val)
c.2860C>G (p.Leu954Val)
18g.23535672G>TCA401791549NPC1c.3274C>A (p.Leu1092Met)
c.29C>A
n.29C>A
c.2352C>A
c.3325C>A (p.Leu1109Met)
c.2860C>A (p.Leu954Met)
18g.23535673G>ACA503521790NPC1c.3273C>T (p.Tyr1091=)
c.28C>T
n.28C>T
c.2351C>T
c.3324C>T (p.Tyr1108=)
c.2859C>T (p.Tyr953=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.23535673G>CCA401791550NPC1c.3273C>G (p.Tyr1091Ter)
c.28C>G
n.28C>G
c.2351C>G
c.3324C>G (p.Tyr1108Ter)
c.2859C>G (p.Tyr953Ter)
 ClinVar dbSNP
18g.23535673G=CA2290163943NPC1c.3273C= (p.Tyr1091=)
c.28C=
n.28C=
c.2351C=
c.3324C= (p.Tyr1108=)
c.2859C= (p.Tyr953=)
18g.23535673G>TCA401791551NPC1c.3273C>A (p.Tyr1091Ter)
c.28C>A
n.28C>A
c.2351C>A
c.3324C>A (p.Tyr1108Ter)
c.2859C>A (p.Tyr953Ter)
18g.23535674T>ACA401791552NPC1c.3272A>T (p.Tyr1091Phe)
c.27A>T
n.27A>T
c.2350A>T
c.3323A>T (p.Tyr1108Phe)
c.2858A>T (p.Tyr953Phe)
18g.23535674T>CCA401791553NPC1c.3272A>G (p.Tyr1091Cys)
c.27A>G
n.27A>G
c.2350A>G
c.3323A>G (p.Tyr1108Cys)
c.2858A>G (p.Tyr953Cys)
18g.23535674T>GCA401791554NPC1c.3272A>C (p.Tyr1091Ser)
c.27A>C
n.27A>C
c.2350A>C
c.3323A>C (p.Tyr1108Ser)
c.2858A>C (p.Tyr953Ser)
18g.23535674_23535675delCA2641278435NPC1c.3271_3272del (p.Tyr1091ProfsTer5)
c.26_27del
n.26_27del
c.2349_2350del
c.3322_3323del (p.Tyr1108ProfsTer5)
c.2857_2858del (p.Tyr953ProfsTer5)
 gnomAD v4
18g.23535675A=CA2290163944NPC1c.3271T= (p.Tyr1091=)
c.26T=
n.26T=
c.2349T=
c.3322T= (p.Tyr1108=)
c.2857T= (p.Tyr953=)
18g.23535675A>CCA401791555NPC1c.3271T>G (p.Tyr1091Asp)
c.26T>G
n.26T>G
c.2349T>G
c.3322T>G (p.Tyr1108Asp)
c.2857T>G (p.Tyr953Asp)
18g.23535675A>GCA401791556NPC1c.3271T>C (p.Tyr1091His)
c.26T>C
n.26T>C
c.2349T>C
c.3322T>C (p.Tyr1108His)
c.2857T>C (p.Tyr953His)
18g.23535675A>TCA401791557NPC1c.3271T>A (p.Tyr1091Asn)
c.26T>A
n.26T>A
c.2349T>A
c.3322T>A (p.Tyr1108Asn)
c.2857T>A (p.Tyr953Asn)
 dbSNP gnomAD v3 gnomAD v4
18g.23535676C>ACA401791558NPC1c.3270G>T (p.Gln1090His)
c.25G>T
n.25G>T
c.2348G>T
c.3321G>T (p.Gln1107His)
c.2856G>T (p.Gln952His)
18g.23535676C>GCA401791559NPC1c.3270G>C (p.Gln1090His)
c.25G>C
n.25G>C
c.2348G>C
c.3321G>C (p.Gln1107His)
c.2856G>C (p.Gln952His)
18g.23535676C>TCA503521793NPC1c.3270G>A (p.Gln1090=)
c.25G>A
n.25G>A
c.2348G>A
c.3321G>A (p.Gln1107=)
c.2856G>A (p.Gln952=)
18g.23535677T>ACA401791560NPC1c.3269A>T (p.Gln1090Leu)
c.24A>T
n.24A>T
c.2347A>T
c.3320A>T (p.Gln1107Leu)
c.2855A>T (p.Gln952Leu)
18g.23535677T>CCA401791561NPC1c.3269A>G (p.Gln1090Arg)
c.24A>G
n.24A>G
c.2347A>G
c.3320A>G (p.Gln1107Arg)
c.2855A>G (p.Gln952Arg)
18g.23535677T>GCA401791562NPC1c.3269A>C (p.Gln1090Pro)
c.24A>C
n.24A>C
c.2347A>C
c.3320A>C (p.Gln1107Pro)
c.2855A>C (p.Gln952Pro)
18g.23535678G>ACA401791565NPC1c.3268C>T (p.Gln1090Ter)
c.23C>T
n.23C>T
c.2346C>T
c.3319C>T (p.Gln1107Ter)
c.2854C>T (p.Gln952Ter)
18g.23535678G>CCA401791563NPC1c.3268C>G (p.Gln1090Glu)
c.23C>G
n.23C>G
c.2346C>G
c.3319C>G (p.Gln1107Glu)
c.2854C>G (p.Gln952Glu)
18g.23535678G>TCA401791564NPC1c.3268C>A (p.Gln1090Lys)
c.23C>A
n.23C>A
c.2346C>A
c.3319C>A (p.Gln1107Lys)
c.2854C>A (p.Gln952Lys)
18g.23535679T>ACA401791566NPC1c.3267A>T (p.Glu1089Asp)
c.22A>T
n.22A>T
c.2345A>T
c.3318A>T (p.Glu1106Asp)
c.2853A>T (p.Glu951Asp)
18g.23535679T>CCA503521795NPC1c.3267A>G (p.Glu1089=)
c.22A>G
n.22A>G
c.2345A>G
c.3318A>G (p.Glu1106=)
c.2853A>G (p.Glu951=)
 gnomAD v4
18g.23535679T>GCA401791567NPC1c.3267A>C (p.Glu1089Asp)
c.22A>C
n.22A>C
c.2345A>C
c.3318A>C (p.Glu1106Asp)
c.2853A>C (p.Glu951Asp)
18g.23535680T>ACA401791568NPC1c.3266A>T (p.Glu1089Val)
c.21A>T
n.21A>T
c.2344A>T
c.3317A>T (p.Glu1106Val)
c.2852A>T (p.Glu951Val)
18g.23535680T>CCA401791569NPC1c.3266A>G (p.Glu1089Gly)
c.21A>G
n.21A>G
c.2344A>G
c.3317A>G (p.Glu1106Gly)
c.2852A>G (p.Glu951Gly)
 ClinVar
18g.23535680T>GCA401791570NPC1c.3266A>C (p.Glu1089Ala)
c.21A>C
n.21A>C
c.2344A>C
c.3317A>C (p.Glu1106Ala)
c.2852A>C (p.Glu951Ala)
18g.23535681C>ACA401791571NPC1c.3265G>T (p.Glu1089Ter)
c.20G>T
n.20G>T
c.2343G>T
c.3316G>T (p.Glu1106Ter)
c.2851G>T (p.Glu951Ter)
 gnomAD v4
18g.23535681C=CA2290163945NPC1c.3265G= (p.Glu1089=)
c.20G=
n.20G=
c.2343G=
c.3316G= (p.Glu1106=)
c.2851G= (p.Glu951=)
18g.23535681C>GCA401791572NPC1c.3265G>C (p.Glu1089Gln)
c.20G>C
n.20G>C
c.2343G>C
c.3316G>C (p.Glu1106Gln)
c.2851G>C (p.Glu951Gln)
 ClinVar
18g.23535681C>TCA297015NPC1c.3265G>A (p.Glu1089Lys)
c.20G>A
n.20G>A
c.2343G>A
c.3316G>A (p.Glu1106Lys)
c.2851G>A (p.Glu951Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
18g.23535682G>ACA8912808NPC1c.3264C>T (p.Tyr1088=)
c.19C>T
n.19C>T
c.2342C>T
c.3315C>T (p.Tyr1105=)
c.2850C>T (p.Tyr950=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23535682G>CCA401791573NPC1c.3264C>G (p.Tyr1088Ter)
c.19C>G
n.19C>G
c.2342C>G
c.3315C>G (p.Tyr1105Ter)
c.2850C>G (p.Tyr950Ter)
18g.23535682G=CA2290163946NPC1c.3264C= (p.Tyr1088=)
c.19C=
n.19C=
c.2342C=
c.3315C= (p.Tyr1105=)
c.2850C= (p.Tyr950=)
18g.23535682G>TCA401791574NPC1c.3264C>A (p.Tyr1088Ter)
c.19C>A
n.19C>A
c.2342C>A
c.3315C>A (p.Tyr1105Ter)
c.2850C>A (p.Tyr950Ter)
 gnomAD v4
18g.23535683T>ACA401791576NPC1c.3263A>T (p.Tyr1088Phe)
c.18A>T
n.18A>T
c.2341A>T
c.3314A>T (p.Tyr1105Phe)
c.2849A>T (p.Tyr950Phe)
18g.23535683T>CCA115897NPC1c.3263A>G (p.Tyr1088Cys)
c.18A>G
n.18A>G
c.2341A>G
c.3314A>G (p.Tyr1105Cys)
c.2849A>G (p.Tyr950Cys)
 ClinVar dbSNP gnomAD v4
18g.23535683T>GCA401791575NPC1c.3263A>C (p.Tyr1088Ser)
c.18A>C
n.18A>C
c.2341A>C
c.3314A>C (p.Tyr1105Ser)
c.2849A>C (p.Tyr950Ser)
18g.23535683T=CA2290163947NPC1c.3263A= (p.Tyr1088=)
c.18A=
n.18A=
c.2341A=
c.3314A= (p.Tyr1105=)
c.2849A= (p.Tyr950=)
18g.23535684A>CCA401791577NPC1c.3262T>G (p.Tyr1088Asp)
c.17T>G
n.17T>G
c.2340T>G
c.3313T>G (p.Tyr1105Asp)
c.2848T>G (p.Tyr950Asp)
18g.23535684A>GCA401791578NPC1c.3262T>C (p.Tyr1088His)
c.17T>C
n.17T>C
c.2340T>C
c.3313T>C (p.Tyr1105His)
c.2848T>C (p.Tyr950His)
18g.23535684A>TCA401791579NPC1c.3262T>A (p.Tyr1088Asn)
c.17T>A
n.17T>A
c.2340T>A
c.3313T>A (p.Tyr1105Asn)
c.2848T>A (p.Tyr950Asn)
 gnomAD v4
18g.23535685G>ACA503521802NPC1c.3261C>T (p.Phe1087=)
c.16C>T
n.16C>T
c.2339C>T
c.3312C>T (p.Phe1104=)
c.2847C>T (p.Phe949=)
 ClinVar dbSNP
18g.23535685G>CCA401791580NPC1c.3261C>G (p.Phe1087Leu)
c.16C>G
n.16C>G
c.2339C>G
c.3312C>G (p.Phe1104Leu)
c.2847C>G (p.Phe949Leu)
 gnomAD v4
18g.23535685G>TCA401791581NPC1c.3261C>A (p.Phe1087Leu)
c.16C>A
n.16C>A
c.2339C>A
c.3312C>A (p.Phe1104Leu)
c.2847C>A (p.Phe949Leu)
18g.23535686A>CCA401791584NPC1c.3260T>G (p.Phe1087Cys)
c.15T>G
n.15T>G
c.2338T>G
c.3311T>G (p.Phe1104Cys)
c.2846T>G (p.Phe949Cys)
18g.23535686A>GCA401791583NPC1c.3260T>C (p.Phe1087Ser)
c.15T>C
n.15T>C
c.2338T>C
c.3311T>C (p.Phe1104Ser)
c.2846T>C (p.Phe949Ser)
18g.23535686A>TCA401791582NPC1c.3260T>A (p.Phe1087Tyr)
c.15T>A
n.15T>A
c.2338T>A
c.3311T>A (p.Phe1104Tyr)
c.2846T>A (p.Phe949Tyr)
18g.23535687delCA2641278436NPC1c.3260del (p.Phe1087SerfsTer6)
c.15del
n.15del
c.2338del
c.3311del (p.Phe1104SerfsTer6)
c.2846del (p.Phe949SerfsTer6)
 gnomAD v4
18g.23535687A=CA2290163948NPC1c.3259T= (p.Phe1087=)
c.14T=
n.14T=
c.2337T=
c.3310T= (p.Phe1104=)
c.2845T= (p.Phe949=)
18g.23535687A>CCA401791585NPC1c.3259T>G (p.Phe1087Val)
c.14T>G
n.14T>G
c.2337T>G
c.3310T>G (p.Phe1104Val)
c.2845T>G (p.Phe949Val)
18g.23535687A>GCA297079275NPC1c.3259T>C (p.Phe1087Leu)
c.14T>C
n.14T>C
c.2337T>C
c.3310T>C (p.Phe1104Leu)
c.2845T>C (p.Phe949Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.23535687A>TCA401791586NPC1c.3259T>A (p.Phe1087Ile)
c.14T>A
n.14T>A
c.2337T>A
c.3310T>A (p.Phe1104Ile)
c.2845T>A (p.Phe949Ile)
18g.23535688G>ACA503521805NPC1c.3258C>T (p.Val1086=)
c.13C>T
n.13C>T
c.2336C>T
c.3309C>T (p.Val1103=)
c.2844C>T (p.Val948=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
18g.23535688G>CCA503521807NPC1c.3258C>G (p.Val1086=)
c.13C>G
n.13C>G
c.2336C>G
c.3309C>G (p.Val1103=)
c.2844C>G (p.Val948=)
18g.23535688G=CA2290163949NPC1c.3258C= (p.Val1086=)
c.13C=
n.13C=
c.2336C=
c.3309C= (p.Val1103=)
c.2844C= (p.Val948=)
18g.23535688G>TCA503521809NPC1c.3258C>A (p.Val1086=)
c.13C>A
n.13C>A
c.2336C>A
c.3309C>A (p.Val1103=)
c.2844C>A (p.Val948=)
18g.23535689A>CCA401791587NPC1c.3257T>G (p.Val1086Gly)
c.12T>G
n.12T>G
c.2335T>G
c.3308T>G (p.Val1103Gly)
c.2843T>G (p.Val948Gly)
18g.23535689A>GCA401791588NPC1c.3257T>C (p.Val1086Ala)
c.12T>C
n.12T>C
c.2335T>C
c.3308T>C (p.Val1103Ala)
c.2843T>C (p.Val948Ala)
18g.23535689A>TCA401791589NPC1c.3257T>A (p.Val1086Asp)
c.12T>A
n.12T>A
c.2335T>A
c.3308T>A (p.Val1103Asp)
c.2843T>A (p.Val948Asp)
18g.23535690C>ACA401791590NPC1c.3256G>T (p.Val1086Phe)
c.11G>T
n.11G>T
c.2334G>T
c.3307G>T (p.Val1103Phe)
c.2842G>T (p.Val948Phe)
18g.23535690C>GCA401791592NPC1c.3256G>C (p.Val1086Leu)
c.11G>C
n.11G>C
c.2334G>C
c.3307G>C (p.Val1103Leu)
c.2842G>C (p.Val948Leu)
18g.23535690C>TCA401791591NPC1c.3256G>A (p.Val1086Ile)
c.11G>A
n.11G>A
c.2334G>A
c.3307G>A (p.Val1103Ile)
c.2842G>A (p.Val948Ile)
 gnomAD v4
18g.23535691A=CA2290163950NPC1c.3255T= (p.Tyr1085=)
c.10T=
n.10T=
c.2333T=
c.3306T= (p.Tyr1102=)
c.2841T= (p.Tyr947=)
18g.23535691A>CCA401791593NPC1c.3255T>G (p.Tyr1085Ter)
c.10T>G
n.10T>G
c.2333T>G
c.3306T>G (p.Tyr1102Ter)
c.2841T>G (p.Tyr947Ter)
18g.23535691A>GCA8912809NPC1c.3255T>C (p.Tyr1085=)
c.10T>C
n.10T>C
c.2333T>C
c.3306T>C (p.Tyr1102=)
c.2841T>C (p.Tyr947=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.23535691A>TCA401791594NPC1c.3255T>A (p.Tyr1085Ter)
c.10T>A
n.10T>A
c.2333T>A
c.3306T>A (p.Tyr1102Ter)
c.2841T>A (p.Tyr947Ter)
 ClinVar dbSNP
18g.23535692_23535693delCA2573155193NPC1c.3254_3255del (p.Tyr1085CysfsTer11)
c.9_10del
n.9_10del
c.2332_2333del
c.3305_3306del (p.Tyr1102CysfsTer11)
c.2840_2841del (p.Tyr947CysfsTer11)
 ClinVar dbSNP gnomAD v4
18g.23535692T>ACA401791595NPC1c.3254A>T (p.Tyr1085Phe)
c.9A>T
n.9A>T
c.2332A>T
c.3305A>T (p.Tyr1102Phe)
c.2840A>T (p.Tyr947Phe)
18g.23535692T>CCA401791596NPC1c.3254A>G (p.Tyr1085Cys)
c.9A>G
n.9A>G
c.2332A>G
c.3305A>G (p.Tyr1102Cys)
c.2840A>G (p.Tyr947Cys)
18g.23535692T>GCA401791597NPC1c.3254A>C (p.Tyr1085Ser)
c.9A>C
n.9A>C
c.2332A>C
c.3305A>C (p.Tyr1102Ser)
c.2840A>C (p.Tyr947Ser)
18g.23535693A>CCA401791598NPC1c.3253T>G (p.Tyr1085Asp)
c.8T>G
n.8T>G
c.2331T>G
c.3304T>G (p.Tyr1102Asp)
c.2839T>G (p.Tyr947Asp)
18g.23535693A>GCA401791599NPC1c.3253T>C (p.Tyr1085His)
c.8T>C
n.8T>C
c.2331T>C
c.3304T>C (p.Tyr1102His)
c.2839T>C (p.Tyr947His)
18g.23535693A>TCA401791600NPC1c.3253T>A (p.Tyr1085Asn)
c.8T>A
n.8T>A
c.2331T>A
c.3304T>A (p.Tyr1102Asn)
c.2839T>A (p.Tyr947Asn)
18g.23535694A>CCA401791601NPC1c.3252T>G (p.Phe1084Leu)
c.7T>G
n.7T>G
c.2330T>G
c.3303T>G (p.Phe1101Leu)
c.2838T>G (p.Phe946Leu)
 gnomAD v4
18g.23535694A>GCA503521813NPC1c.3252T>C (p.Phe1084=)
c.7T>C
n.7T>C
c.2330T>C
c.3303T>C (p.Phe1101=)
c.2838T>C (p.Phe946=)
 ClinVar dbSNP
18g.23535694A>TCA401791602NPC1c.3252T>A (p.Phe1084Leu)
c.7T>A
n.7T>A
c.2330T>A
c.3303T>A (p.Phe1101Leu)
c.2838T>A (p.Phe946Leu)
18g.23535695A>CCA401791605NPC1c.3251T>G (p.Phe1084Cys)
c.6T>G
n.6T>G
c.2329T>G
c.3302T>G (p.Phe1101Cys)
c.2837T>G (p.Phe946Cys)
18g.23535695A>GCA401791604NPC1c.3251T>C (p.Phe1084Ser)
c.6T>C
n.6T>C
c.2329T>C
c.3302T>C (p.Phe1101Ser)
c.2837T>C (p.Phe946Ser)
18g.23535695A>TCA401791603NPC1c.3251T>A (p.Phe1084Tyr)
c.6T>A
n.6T>A
c.2329T>A
c.3302T>A (p.Phe1101Tyr)
c.2837T>A (p.Phe946Tyr)
18g.23535695_23535697delinsAACCA2290163951NPC1c.3249_3251delinsGTT (p.Val1083=)
c.4_6delinsGTT
n.4_6delinsGTT
c.2327_2329delinsGTT
c.3300_3302delinsGTT (p.Val1100=)
c.2835_2837delinsGTT (p.Val945=)
18g.23535696A>CCA401791606NPC1c.3250T>G (p.Phe1084Val)
c.5T>G
n.5T>G
c.2328T>G
c.3301T>G (p.Phe1101Val)
c.2836T>G (p.Phe946Val)
18g.23535696A>GCA401791608NPC1c.3250T>C (p.Phe1084Leu)
c.5T>C
n.5T>C
c.2328T>C
c.3301T>C (p.Phe1101Leu)
c.2836T>C (p.Phe946Leu)
18g.23535696A>TCA401791607NPC1c.3250T>A (p.Phe1084Ile)
c.5T>A
n.5T>A
c.2328T>A
c.3301T>A (p.Phe1101Ile)
c.2836T>A (p.Phe946Ile)
18g.23535700_23535701delCA628978726NPC1c.3249_3250del
c.2327_2328del
c.3300_3301del
c.2835_2836del
 ClinVar dbSNP gnomAD v2
18g.23535697C>ACA503521814NPC1c.3249G>T (p.Val1083=)
c.4G>T
n.4G>T
c.2327G>T
c.3300G>T (p.Val1100=)
c.2835G>T (p.Val945=)
 ClinVar
18g.23535697C>GCA503521815NPC1c.3249G>C (p.Val1083=)
c.4G>C
n.4G>C
c.2327G>C
c.3300G>C (p.Val1100=)
c.2835G>C (p.Val945=)
18g.23535697C>TCA503521816NPC1c.3249G>A (p.Val1083=)
c.4G>A
n.4G>A
c.2327G>A
c.3300G>A (p.Val1100=)
c.2835G>A (p.Val945=)
18g.23535698A>CCA401791609NPC1c.3248T>G (p.Val1083Gly)
c.3T>G
n.3T>G
c.2326T>G
c.3299T>G (p.Val1100Gly)
c.2834T>G (p.Val945Gly)
18g.23535698A>GCA401791610NPC1c.3248T>C (p.Val1083Ala)
c.3T>C
n.3T>C
c.2326T>C
c.3299T>C (p.Val1100Ala)
c.2834T>C (p.Val945Ala)
18g.23535698A>TCA401791611NPC1c.3248T>A (p.Val1083Glu)
c.3T>A
n.3T>A
c.2326T>A
c.3299T>A (p.Val1100Glu)
c.2834T>A (p.Val945Glu)
18g.23535699C>ACA401791612NPC1c.3247G>T (p.Val1083Leu)
c.2G>T
n.2G>T
c.2325G>T
c.3298G>T (p.Val1100Leu)
c.2833G>T (p.Val945Leu)
18g.23535699C>GCA401791613NPC1c.3247G>C (p.Val1083Leu)
c.2G>C
n.2G>C
c.2325G>C
c.3298G>C (p.Val1100Leu)
c.2833G>C (p.Val945Leu)
18g.23535699C>TCA401791614NPC1c.3247G>A (p.Val1083Met)
c.2G>A
n.2G>A
c.2325G>A
c.3298G>A (p.Val1100Met)
c.2833G>A (p.Val945Met)
18g.23535700A=CA2290163952NPC1c.3246T= (p.Ser1082=)
c.1T=
n.1T=
c.2324T=
c.3297T= (p.Ser1099=)
c.2832T= (p.Ser944=)
18g.23535700A>CCA401791615NPC1c.3246T>G (p.Ser1082Arg)
c.1T>G
n.1T>G
c.2324T>G
c.3297T>G (p.Ser1099Arg)
c.2832T>G (p.Ser944Arg)
18g.23535700A>GCA8912810NPC1c.3246T>C (p.Ser1082=)
c.1T>C
n.1T>C
c.2324T>C
c.3297T>C (p.Ser1099=)
c.2832T>C (p.Ser944=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23535700A>TCA401791616NPC1c.3246T>A (p.Ser1082Arg)
c.1T>A
n.1T>A
c.2324T>A
c.3297T>A (p.Ser1099Arg)
c.2832T>A (p.Ser944Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.23535701C>ACA401791617NPC1c.3246-1G>T (n.3246-1G>T)
c.2324-1G>T
c.3297-1G>T (n.3297-1G>T)
c.2832-1G>T (n.2832-1G>T)
 gnomAD v4
18g.23535701C=CA2290163953NPC1c.3246-1G= (n.3246-1G=)
c.2324-1G=
c.3297-1G= (n.3297-1G=)
c.2832-1G= (n.2832-1G=)
18g.23535701C>GCA401791618NPC1c.3246-1G>C (n.3246-1G>C)
c.2324-1G>C
c.3297-1G>C (n.3297-1G>C)
c.2832-1G>C (n.2832-1G>C)
 dbSNP
18g.23535701C>TCA401791619NPC1c.3246-1G>A (n.3246-1G>A)
c.2324-1G>A
c.3297-1G>A (n.3297-1G>A)
c.2832-1G>A (n.2832-1G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23535702T>ACA401791621NPC1c.3246-2A>T (n.3246-2A>T)
c.2324-2A>T
c.3297-2A>T (n.3297-2A>T)
c.2832-2A>T (n.2832-2A>T)
18g.23535702T>CCA10575444NPC1c.3246-2A>G (n.3246-2A>G)
c.2324-2A>G
c.3297-2A>G (n.3297-2A>G)
c.2832-2A>G (n.2832-2A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.23535702T>GCA401791620NPC1c.3246-2A>C (n.3246-2A>C)
c.2324-2A>C
c.3297-2A>C (n.3297-2A>C)
c.2832-2A>C (n.2832-2A>C)
18g.23535702T=CA2290163954NPC1c.3246-2A= (n.3246-2A=)
c.2324-2A=
c.3297-2A= (n.3297-2A=)
c.2832-2A= (n.2832-2A=)
18g.23535703G>ACA2641278437NPC1c.3246-3C>T (n.3246-3C>T)
c.2324-3C>T
c.3297-3C>T (n.3297-3C>T)
c.2832-3C>T (n.2832-3C>T)
 gnomAD v4
18g.23535703G>TCA2641278438NPC1c.3246-3C>A (n.3246-3C>A)
c.2324-3C>A
c.3297-3C>A (n.3297-3C>A)
c.2832-3C>A (n.2832-3C>A)
 gnomAD v4
18g.23535705_23535707delCA2695227425NPC1c.3246-5_3246-3del (n.3246-5_3246-3del)
c.2324-5_2324-3del
c.3297-5_3297-3del (n.3297-5_3297-3del)
c.2832-5_2832-3del (n.2832-5_2832-3del)
18g.23535704G>ACA628978666NPC1c.3246-4C>T (n.3246-4C>T)
c.2324-4C>T
c.3297-4C>T (n.3297-4C>T)
c.2832-4C>T (n.2832-4C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23535704G>CCA645600322NPC1c.3246-4C>G (n.3246-4C>G)
c.2324-4C>G
c.3297-4C>G (n.3297-4C>G)
c.2832-4C>G (n.2832-4C>G)
 COSMIC COSMIC
18g.23535704G=CA2290163955NPC1c.3246-4C= (n.3246-4C=)
c.2324-4C=
c.3297-4C= (n.3297-4C=)
c.2832-4C= (n.2832-4C=)
18g.23535704G>TCA2576470882NPC1c.3246-4C>A (n.3246-4C>A)
c.2324-4C>A
c.3297-4C>A (n.3297-4C>A)
c.2832-4C>A (n.2832-4C>A)
 gnomAD v4
18g.23535704_23535705delinsAGCA2499225058NPC1c.3246-5_3246-4delinsCT (n.3246-5_3246-4delinsCT)
c.2324-5_2324-4delinsCT
c.3297-5_3297-4delinsCT (n.3297-5_3297-4delinsCT)
c.2832-5_2832-4delinsCT (n.2832-5_2832-4delinsCT)
 ClinVar dbSNP
18g.23535712_23535718dupCA2641278439NPC1c.3246-10_3246-4dup (n.3246-10_3246-4dup)
c.2324-10_2324-4dup
c.3297-10_3297-4dup (n.3297-10_3297-4dup)
c.2832-10_2832-4dup (n.2832-10_2832-4dup)
 gnomAD v4
18g.23535712_23535718delCA2641278440NPC1c.3246-10_3246-4del (n.3246-10_3246-4del)
c.2324-10_2324-4del
c.3297-10_3297-4del (n.3297-10_3297-4del)
c.2832-10_2832-4del (n.2832-10_2832-4del)
 gnomAD v4
18g.23535705A=CA2290163956NPC1c.3246-5T= (n.3246-5T=)
c.2324-5T=
c.3297-5T= (n.3297-5T=)
c.2832-5T= (n.2832-5T=)
18g.23535705A>CCA2576470883NPC1c.3246-5T>G (n.3246-5T>G)
c.2324-5T>G
c.3297-5T>G (n.3297-5T>G)
c.2832-5T>G (n.2832-5T>G)
18g.23535706G>ACA2580095477NPC1c.3246-6C>T (n.3246-6C>T)
c.2324-6C>T
c.3297-6C>T (n.3297-6C>T)
c.2832-6C>T (n.2832-6C>T)
 ClinVar
18g.23535706G>CCA777716433NPC1c.3246-6C>G (n.3246-6C>G)
c.2324-6C>G
c.3297-6C>G (n.3297-6C>G)
c.2832-6C>G (n.2832-6C>G)
 dbSNP gnomAD v3 gnomAD v4
18g.23535706G=CA2290163958NPC1c.3246-6C= (n.3246-6C=)
c.2324-6C=
c.3297-6C= (n.3297-6C=)
c.2832-6C= (n.2832-6C=)
18g.23535706G>TCA2641278441NPC1c.3246-6C>A (n.3246-6C>A)
c.2324-6C>A
c.3297-6C>A (n.3297-6C>A)
c.2832-6C>A (n.2832-6C>A)
 gnomAD v4
18g.23535709dupCA2290163957NPC1c.3246-6dup (n.3246-6dup)
c.2324-6dup
c.3297-6dup (n.3297-6dup)
c.2832-6dup (n.2832-6dup)
 ClinVar dbSNP gnomAD v4
18g.23535707_23535710delinsGGGACA2290163959NPC1c.3246-10_3246-7delinsTCCC (n.3246-10_3246-7delinsTCCC)
c.2324-10_2324-7delinsTCCC
c.3297-10_3297-7delinsTCCC (n.3297-10_3297-7delinsTCCC)
c.2832-10_2832-7delinsTCCC (n.2832-10_2832-7delinsTCCC)
18g.23535708G>ACA8912811NPC1c.3246-8C>T (n.3246-8C>T)
c.2324-8C>T
c.3297-8C>T (n.3297-8C>T)
c.2832-8C>T (n.2832-8C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23535708G=CA2290163960NPC1c.3246-8C= (n.3246-8C=)
c.2324-8C=
c.3297-8C= (n.3297-8C=)
c.2832-8C= (n.2832-8C=)
18g.23535708G>TCA2641278442NPC1c.3246-8C>A (n.3246-8C>A)
c.2324-8C>A
c.3297-8C>A (n.3297-8C>A)
c.2832-8C>A (n.2832-8C>A)
 gnomAD v4
18g.23535709_23535711delCA777716444NPC1c.3246-10_3246-8del (n.3246-10_3246-8del)
c.2324-10_2324-8del
c.3297-10_3297-8del (n.3297-10_3297-8del)
c.2832-10_2832-8del (n.2832-10_2832-8del)
 dbSNP gnomAD v3 gnomAD v4
18g.23535709G>ACA297079283NPC1c.3246-9C>T (n.3246-9C>T)
c.2324-9C>T
c.3297-9C>T (n.3297-9C>T)
c.2832-9C>T (n.2832-9C>T)
 ClinVar dbSNP
18g.23535709G=CA2290163961NPC1c.3246-9C= (n.3246-9C=)
c.2324-9C=
c.3297-9C= (n.3297-9C=)
c.2832-9C= (n.2832-9C=)
18g.23535709G>TCA2500717059NPC1c.3246-9C>A (n.3246-9C>A)
c.2324-9C>A
c.3297-9C>A (n.3297-9C>A)
c.2832-9C>A (n.2832-9C>A)
 gnomAD v4
18g.23535710A=CA2290163962NPC1c.3246-10T= (n.3246-10T=)
c.2324-10T=
c.3297-10T= (n.3297-10T=)
c.2832-10T= (n.2832-10T=)
18g.23535710A>GCA8912812NPC1c.3246-10T>C (n.3246-10T>C)
c.2324-10T>C
c.3297-10T>C (n.3297-10T>C)
c.2832-10T>C (n.2832-10T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23535711G>ACA2641278443NPC1c.3246-11C>T (n.3246-11C>T)
c.2324-11C>T
c.3297-11C>T (n.3297-11C>T)
c.2832-11C>T (n.2832-11C>T)
 gnomAD v4
18g.23535711G>CCA8912813NPC1c.3246-11C>G (n.3246-11C>G)
c.2324-11C>G
c.3297-11C>G (n.3297-11C>G)
c.2832-11C>G (n.2832-11C>G)
 dbSNP ExAC
18g.23535711G=CA2290163963NPC1c.3246-11C= (n.3246-11C=)
c.2324-11C=
c.3297-11C= (n.3297-11C=)
c.2832-11C= (n.2832-11C=)
18g.23535711G>TCA2641278444NPC1c.3246-11C>A (n.3246-11C>A)
c.2324-11C>A
c.3297-11C>A (n.3297-11C>A)
c.2832-11C>A (n.2832-11C>A)
 gnomAD v4
18g.23535712delCA2739268569NPC1c.3246-12del (n.3246-12del)
c.2324-12del
c.3297-12del (n.3297-12del)
c.2832-12del (n.2832-12del)
 ClinVar
18g.23535712A>CCA2641278445NPC1c.3246-12T>G (n.3246-12T>G)
c.2324-12T>G
c.3297-12T>G (n.3297-12T>G)
c.2832-12T>G (n.2832-12T>G)
 gnomAD v4
18g.23535712A>GCA2576470885NPC1c.3246-12T>C (n.3246-12T>C)
c.2324-12T>C
c.3297-12T>C (n.3297-12T>C)
c.2832-12T>C (n.2832-12T>C)
 gnomAD v4
18g.23535713G>ACA8912814NPC1c.3246-13C>T (n.3246-13C>T)
c.2324-13C>T
c.3297-13C>T (n.3297-13C>T)
c.2832-13C>T (n.2832-13C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.23535713G>CCA777716450NPC1c.3246-13C>G (n.3246-13C>G)
c.2324-13C>G
c.3297-13C>G (n.3297-13C>G)
c.2832-13C>G (n.2832-13C>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.23535713G=CA2290163964NPC1c.3246-13C= (n.3246-13C=)
c.2324-13C=
c.3297-13C= (n.3297-13C=)
c.2832-13C= (n.2832-13C=)
18g.23535713G>TCA2641278446NPC1c.3246-13C>A (n.3246-13C>A)
c.2324-13C>A
c.3297-13C>A (n.3297-13C>A)
c.2832-13C>A (n.2832-13C>A)
 gnomAD v4
18g.23535715_23535716delCA2576470886NPC1c.3246-14_3246-13del (n.3246-14_3246-13del)
c.2324-14_2324-13del
c.3297-14_3297-13del (n.3297-14_3297-13del)
c.2832-14_2832-13del (n.2832-14_2832-13del)
18g.23535714G>ACA8912815NPC1c.3246-14C>T (n.3246-14C>T)
c.2324-14C>T
c.3297-14C>T (n.3297-14C>T)
c.2832-14C>T (n.2832-14C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23535714G=CA2290163965NPC1c.3246-14C= (n.3246-14C=)
c.2324-14C=
c.3297-14C= (n.3297-14C=)
c.2832-14C= (n.2832-14C=)
18g.23535714G>TCA2641278447NPC1c.3246-14C>A (n.3246-14C>A)
c.2324-14C>A
c.3297-14C>A (n.3297-14C>A)
c.2832-14C>A (n.2832-14C>A)
 gnomAD v4
18g.23535715G>ACA628978667NPC1c.3246-15C>T (n.3246-15C>T)
c.2324-15C>T
c.3297-15C>T (n.3297-15C>T)
c.2832-15C>T (n.2832-15C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.23535715G=CA2290163966NPC1c.3246-15C= (n.3246-15C=)
c.2324-15C=
c.3297-15C= (n.3297-15C=)
c.2832-15C= (n.2832-15C=)
18g.23535715G>TCA2641278448NPC1c.3246-15C>A (n.3246-15C>A)
c.2324-15C>A
c.3297-15C>A (n.3297-15C>A)
c.2832-15C>A (n.2832-15C>A)
 gnomAD v4
18g.23535717A>GCA2641278449NPC1c.3246-17T>C (n.3246-17T>C)
c.2324-17T>C
c.3297-17T>C (n.3297-17T>C)
c.2832-17T>C (n.2832-17T>C)
 gnomAD v4
18g.23535718G>TCA2576470887NPC1c.3246-18C>A (n.3246-18C>A)
c.2324-18C>A
c.3297-18C>A (n.3297-18C>A)
c.2832-18C>A (n.2832-18C>A)
 gnomAD v4
18g.23535719G>ACA2290163968NPC1c.3246-19C>T (n.3246-19C>T)
c.2324-19C>T
c.3297-19C>T (n.3297-19C>T)
c.2832-19C>T (n.2832-19C>T)
 dbSNP
18g.23535719G>CCA2641278450NPC1c.3246-19C>G (n.3246-19C>G)
c.2324-19C>G
c.3297-19C>G (n.3297-19C>G)
c.2832-19C>G (n.2832-19C>G)
 gnomAD v4
18g.23535719G=CA2290163967NPC1c.3246-19C= (n.3246-19C=)
c.2324-19C=
c.3297-19C= (n.3297-19C=)
c.2832-19C= (n.2832-19C=)
18g.23535719G>TCA2576470888NPC1c.3246-19C>A (n.3246-19C>A)
c.2324-19C>A
c.3297-19C>A (n.3297-19C>A)
c.2832-19C>A (n.2832-19C>A)
 gnomAD v4
18g.23535720C>ACA2581338635NPC1c.3246-20G>T (n.3246-20G>T)
c.2324-20G>T
c.3297-20G>T (n.3297-20G>T)
c.2832-20G>T (n.2832-20G>T)
18g.23535720C=CA2290163969NPC1c.3246-20G= (n.3246-20G=)
c.2324-20G=
c.3297-20G= (n.3297-20G=)
c.2832-20G= (n.2832-20G=)
18g.23535720C>GCA2581338634NPC1c.3246-20G>C (n.3246-20G>C)
c.2324-20G>C
c.3297-20G>C (n.3297-20G>C)
c.2832-20G>C (n.2832-20G>C)
18g.23535720C>TCA145961NPC1c.3246-20G>A (n.3246-20G>A)
c.2324-20G>A
c.3297-20G>A (n.3297-20G>A)
c.2832-20G>A (n.2832-20G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23535721C>TCA657193896NPC1c.3246-21G>A (n.3246-21G>A)
c.2324-21G>A
c.3297-21G>A (n.3297-21G>A)
c.2832-21G>A (n.2832-21G>A)
 COSMIC
18g.23535722T>CCA2641278451NPC1c.3246-22A>G (n.3246-22A>G)
c.2324-22A>G
c.3297-22A>G (n.3297-22A>G)
c.2832-22A>G (n.2832-22A>G)
 gnomAD v4
18g.23535724A=CA2290163971NPC1c.3246-24T= (n.3246-24T=)
c.2324-24T=
c.3297-24T= (n.3297-24T=)
c.2832-24T= (n.2832-24T=)
18g.23535724A>GCA2290163970NPC1c.3246-24T>C (n.3246-24T>C)
c.2324-24T>C
c.3297-24T>C (n.3297-24T>C)
c.2832-24T>C (n.2832-24T>C)
 dbSNP gnomAD v4
18g.23535725T>CCA2641278453NPC1c.3246-25A>G (n.3246-25A>G)
c.2324-25A>G
c.3297-25A>G (n.3297-25A>G)
c.2832-25A>G (n.2832-25A>G)
 gnomAD v4
18g.23535726dupCA2641278452NPC1c.3246-25dup (n.3246-25dup)
c.2324-25dup
c.3297-25dup (n.3297-25dup)
c.2832-25dup (n.2832-25dup)
 gnomAD v4
18g.23535730G>ACA628978668NPC1c.3246-30C>T (n.3246-30C>T)
c.2324-30C>T
c.3297-30C>T (n.3297-30C>T)
c.2832-30C>T (n.2832-30C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23535730G>CCA2641278454NPC1c.3246-30C>G (n.3246-30C>G)
c.2324-30C>G
c.3297-30C>G (n.3297-30C>G)
c.2832-30C>G (n.2832-30C>G)
 gnomAD v4
18g.23535730G=CA2290163972NPC1c.3246-30C= (n.3246-30C=)
c.2324-30C=
c.3297-30C= (n.3297-30C=)
c.2832-30C= (n.2832-30C=)
18g.23535730G>TCA2576470889NPC1c.3246-30C>A (n.3246-30C>A)
c.2324-30C>A
c.3297-30C>A (n.3297-30C>A)
c.2832-30C>A (n.2832-30C>A)
 gnomAD v4
18g.23535733C=CA2290163973NPC1c.3246-33G= (n.3246-33G=)
c.2324-33G=
c.3297-33G= (n.3297-33G=)
c.2832-33G= (n.2832-33G=)
18g.23535733C>TCA8912816NPC1c.3246-33G>A (n.3246-33G>A)
c.2324-33G>A
c.3297-33G>A (n.3297-33G>A)
c.2832-33G>A (n.2832-33G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23535734G>ACA8912817NPC1c.3246-34C>T (n.3246-34C>T)
c.2324-34C>T
c.3297-34C>T (n.3297-34C>T)
c.2832-34C>T (n.2832-34C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23535734G>CCA2290163975NPC1c.3246-34C>G (n.3246-34C>G)
c.2324-34C>G
c.3297-34C>G (n.3297-34C>G)
c.2832-34C>G (n.2832-34C>G)
 dbSNP
18g.23535734G=CA2290163974NPC1c.3246-34C= (n.3246-34C=)
c.2324-34C=
c.3297-34C= (n.3297-34C=)
c.2832-34C= (n.2832-34C=)
18g.23535734G>TCA2576470890NPC1c.3246-34C>A (n.3246-34C>A)
c.2324-34C>A
c.3297-34C>A (n.3297-34C>A)
c.2832-34C>A (n.2832-34C>A)
 gnomAD v4
18g.23535735C>ACA2641278455NPC1c.3246-35G>T (n.3246-35G>T)
c.2324-35G>T
c.3297-35G>T (n.3297-35G>T)
c.2832-35G>T (n.2832-35G>T)
 gnomAD v4
18g.23535735C=CA2290163976NPC1c.3246-35G= (n.3246-35G=)
c.2324-35G=
c.3297-35G= (n.3297-35G=)
c.2832-35G= (n.2832-35G=)
18g.23535735C>TCA8912818NPC1c.3246-35G>A (n.3246-35G>A)
c.2324-35G>A
c.3297-35G>A (n.3297-35G>A)
c.2832-35G>A (n.2832-35G>A)
 dbSNP ExAC gnomAD v4
18g.23535736T>GCA628978669NPC1c.3246-36A>C (n.3246-36A>C)
c.2324-36A>C
c.3297-36A>C (n.3297-36A>C)
c.2832-36A>C (n.2832-36A>C)
 dbSNP gnomAD v2 gnomAD v4
18g.23535736T=CA2290163978NPC1c.3246-36A= (n.3246-36A=)
c.2324-36A=
c.3297-36A= (n.3297-36A=)
c.2832-36A= (n.2832-36A=)
18g.23535736dupCA2641278456NPC1c.3246-36dup (n.3246-36dup)
c.2324-36dup
c.3297-36dup (n.3297-36dup)
c.2832-36dup (n.2832-36dup)
 gnomAD v4
18g.23535736_23535740delinsTCTCACA2290163977NPC1c.3246-40_3246-36delinsTGAGA (n.3246-40_3246-36delinsTGAGA)
c.2324-40_2324-36delinsTGAGA
c.3297-40_3297-36delinsTGAGA (n.3297-40_3297-36delinsTGAGA)
c.2832-40_2832-36delinsTGAGA (n.2832-40_2832-36delinsTGAGA)
18g.23535737C>ACA2641278457NPC1c.3246-37G>T (n.3246-37G>T)
c.2324-37G>T
c.3297-37G>T (n.3297-37G>T)
c.2832-37G>T (n.2832-37G>T)
 gnomAD v4
18g.23535737C=CA2290163979NPC1c.3246-37G= (n.3246-37G=)
c.2324-37G=
c.3297-37G= (n.3297-37G=)
c.2832-37G= (n.2832-37G=)
18g.23535737C>GCA8912820NPC1c.3246-37G>C (n.3246-37G>C)
c.2324-37G>C
c.3297-37G>C (n.3297-37G>C)
c.2832-37G>C (n.2832-37G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23535737C>TCA628978670NPC1c.3246-37G>A (n.3246-37G>A)
c.2324-37G>A
c.3297-37G>A (n.3297-37G>A)
c.2832-37G>A (n.2832-37G>A)
 dbSNP gnomAD v2 gnomAD v4
18g.23535740_23535743delCA8912819NPC1c.3246-40_3246-37del (n.3246-40_3246-37del)
c.2324-40_2324-37del
c.3297-40_3297-37del (n.3297-40_3297-37del)
c.2832-40_2832-37del (n.2832-40_2832-37del)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23535738T>CCA628978671NPC1c.3246-38A>G (n.3246-38A>G)
c.2324-38A>G
c.3297-38A>G (n.3297-38A>G)
c.2832-38A>G (n.2832-38A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23535738T>GCA8912821NPC1c.3246-38A>C (n.3246-38A>C)
c.2324-38A>C
c.3297-38A>C (n.3297-38A>C)
c.2832-38A>C (n.2832-38A>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23535738T=CA2290163980NPC1c.3246-38A= (n.3246-38A=)
c.2324-38A=
c.3297-38A= (n.3297-38A=)
c.2832-38A= (n.2832-38A=)
18g.23535739C>ACA2641278458NPC1c.3246-39G>T (n.3246-39G>T)
c.2324-39G>T
c.3297-39G>T (n.3297-39G>T)
c.2832-39G>T (n.2832-39G>T)
 gnomAD v4
18g.23535739C>TCA2734654189NPC1c.3246-39G>A (n.3246-39G>A)
c.2324-39G>A
c.3297-39G>A (n.3297-39G>A)
c.2832-39G>A (n.2832-39G>A)
 dbSNP
18g.23535740A=CA2290163981NPC1c.3246-40T= (n.3246-40T=)
c.2324-40T=
c.3297-40T= (n.3297-40T=)
c.2832-40T= (n.2832-40T=)
18g.23535740A>GCA628978672NPC1c.3246-40T>C (n.3246-40T>C)
c.2324-40T>C
c.3297-40T>C (n.3297-40T>C)
c.2832-40T>C (n.2832-40T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23535740A>TCA8912822NPC1c.3246-40T>A (n.3246-40T>A)
c.2324-40T>A
c.3297-40T>A (n.3297-40T>A)
c.2832-40T>A (n.2832-40T>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23535741C>TCA2576470891NPC1c.3246-41G>A (n.3246-41G>A)
c.2324-41G>A
c.3297-41G>A (n.3297-41G>A)
c.2832-41G>A (n.2832-41G>A)
 gnomAD v4
18g.23535742T>ACA2641278459NPC1c.3246-42A>T (n.3246-42A>T)
c.2324-42A>T
c.3297-42A>T (n.3297-42A>T)
c.2832-42A>T (n.2832-42A>T)
 gnomAD v4
18g.23535743C=CA2290163982NPC1c.3246-43G= (n.3246-43G=)
c.2324-43G=
c.3297-43G= (n.3297-43G=)
c.2832-43G= (n.2832-43G=)
18g.23535743C>GCA2290163983NPC1c.3246-43G>C (n.3246-43G>C)
c.2324-43G>C
c.3297-43G>C (n.3297-43G>C)
c.2832-43G>C (n.2832-43G>C)
 dbSNP
18g.23535744C>ACA2576470893NPC1c.3246-44G>T (n.3246-44G>T)
c.2324-44G>T
c.3297-44G>T (n.3297-44G>T)
c.2832-44G>T (n.2832-44G>T)
 gnomAD v4
18g.23535744C>GCA2641278460NPC1c.3246-44G>C (n.3246-44G>C)
c.2324-44G>C
c.3297-44G>C (n.3297-44G>C)
c.2832-44G>C (n.2832-44G>C)
 gnomAD v4
18g.23535744C>TCA2576470892NPC1c.3246-44G>A (n.3246-44G>A)
c.2324-44G>A
c.3297-44G>A (n.3297-44G>A)
c.2832-44G>A (n.2832-44G>A)
18g.23535745C>ACA2641278461NPC1c.3246-45G>T (n.3246-45G>T)
c.2324-45G>T
c.3297-45G>T (n.3297-45G>T)
c.2832-45G>T (n.2832-45G>T)
 gnomAD v4
18g.23535745C=CA2290163984NPC1c.3246-45G= (n.3246-45G=)
c.2324-45G=
c.3297-45G= (n.3297-45G=)
c.2832-45G= (n.2832-45G=)
18g.23535745C>TCA8912823NPC1c.3246-45G>A (n.3246-45G>A)
c.2324-45G>A
c.3297-45G>A (n.3297-45G>A)
c.2832-45G>A (n.2832-45G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23535746G>ACA8912824NPC1c.3246-46C>T (n.3246-46C>T)
c.2324-46C>T
c.3297-46C>T (n.3297-46C>T)
c.2832-46C>T (n.2832-46C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23535746G>CCA628978673NPC1c.3246-46C>G (n.3246-46C>G)
c.2324-46C>G
c.3297-46C>G (n.3297-46C>G)
c.2832-46C>G (n.2832-46C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23535746G=CA2290163985NPC1c.3246-46C= (n.3246-46C=)
c.2324-46C=
c.3297-46C= (n.3297-46C=)
c.2832-46C= (n.2832-46C=)
18g.23535746G>TCA777716496NPC1c.3246-46C>A (n.3246-46C>A)
c.2324-46C>A
c.3297-46C>A (n.3297-46C>A)
c.2832-46C>A (n.2832-46C>A)
 dbSNP gnomAD v4
18g.23535748A=CA2290163986NPC1c.3246-48T= (n.3246-48T=)
c.2324-48T=
c.3297-48T= (n.3297-48T=)
c.2832-48T= (n.2832-48T=)
18g.23535748A>CCA8912825NPC1c.3246-48T>G (n.3246-48T>G)
c.2324-48T>G
c.3297-48T>G (n.3297-48T>G)
c.2832-48T>G (n.2832-48T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23535749C>ACA2641278462NPC1c.3246-49G>T (n.3246-49G>T)
c.2324-49G>T
c.3297-49G>T (n.3297-49G>T)
c.2832-49G>T (n.2832-49G>T)
 gnomAD v4
18g.23535749C=CA2290163987NPC1c.3246-49G= (n.3246-49G=)
c.2324-49G=
c.3297-49G= (n.3297-49G=)
c.2832-49G= (n.2832-49G=)
18g.23535749C>TCA8912826NPC1c.3246-49G>A (n.3246-49G>A)
c.2324-49G>A
c.3297-49G>A (n.3297-49G>A)
c.2832-49G>A (n.2832-49G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23535755_23535776dupCA988381548NPC1c.3246-70_3246-49dup (n.3246-70_3246-49dup)
c.2324-70_2324-49dup
c.3297-70_3297-49dup (n.3297-70_3297-49dup)
c.2832-70_2832-49dup (n.2832-70_2832-49dup)
 dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched