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.23535550G>ACA8912784NPC1c.3396C>T (p.Ala1132=)
c.151C>T
n.151C>T
c.2474C>T
c.73C>T
c.3447C>T (p.Ala1149=)
c.2982C>T (p.Ala994=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23535550G>CCA503521689NPC1c.3396C>G (p.Ala1132=)
c.151C>G
n.151C>G
c.2474C>G
c.73C>G
c.3447C>G (p.Ala1149=)
c.2982C>G (p.Ala994=)
18g.23535550G=CA2290163878NPC1c.3396C= (p.Ala1132=)
c.151C=
n.151C=
c.2474C=
c.73C=
c.3447C= (p.Ala1149=)
c.2982C= (p.Ala994=)
18g.23535550G>TCA503521688NPC1c.3396C>A (p.Ala1132=)
c.151C>A
n.151C>A
c.2474C>A
c.73C>A
c.3447C>A (p.Ala1149=)
c.2982C>A (p.Ala994=)
18g.23535551G>ACA401791296NPC1c.3395C>T (p.Ala1132Val)
c.150C>T
n.150C>T
c.2473C>T
c.72C>T
c.3446C>T (p.Ala1149Val)
c.2981C>T (p.Ala994Val)
 dbSNP gnomAD v2 gnomAD v4
18g.23535551G>CCA401791297NPC1c.3395C>G (p.Ala1132Gly)
c.150C>G
n.150C>G
c.2473C>G
c.72C>G
c.3446C>G (p.Ala1149Gly)
c.2981C>G (p.Ala994Gly)
18g.23535551G=CA2290163879NPC1c.3395C= (p.Ala1132=)
c.150C=
n.150C=
c.2473C=
c.72C=
c.3446C= (p.Ala1149=)
c.2981C= (p.Ala994=)
18g.23535551G>TCA401791298NPC1c.3395C>A (p.Ala1132Asp)
c.150C>A
n.150C>A
c.2473C>A
c.72C>A
c.3446C>A (p.Ala1149Asp)
c.2981C>A (p.Ala994Asp)
18g.23535552C>ACA401791299NPC1c.3394G>T (p.Ala1132Ser)
c.149G>T
n.149G>T
c.2472G>T
c.71G>T
c.3445G>T (p.Ala1149Ser)
c.2980G>T (p.Ala994Ser)
18g.23535552C=CA2290163880NPC1c.3394G= (p.Ala1132=)
c.149G=
n.149G=
c.2472G=
c.71G=
c.3445G= (p.Ala1149=)
c.2980G= (p.Ala994=)
18g.23535552C>GCA401791300NPC1c.3394G>C (p.Ala1132Pro)
c.149G>C
n.149G>C
c.2472G>C
c.71G>C
c.3445G>C (p.Ala1149Pro)
c.2980G>C (p.Ala994Pro)
18g.23535552C>TCA297079175NPC1c.3394G>A (p.Ala1132Thr)
c.149G>A
n.149G>A
c.2472G>A
c.71G>A
c.3445G>A (p.Ala1149Thr)
c.2980G>A (p.Ala994Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23535553G>ACA8912785NPC1c.3393C>T (p.Ile1131=)
c.148C>T
n.148C>T
c.2471C>T
c.70C>T
c.3444C>T (p.Ile1148=)
c.2979C>T (p.Ile993=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23535553G>CCA401791301NPC1c.3393C>G (p.Ile1131Met)
c.148C>G
n.148C>G
c.2471C>G
c.70C>G
c.3444C>G (p.Ile1148Met)
c.2979C>G (p.Ile993Met)
 gnomAD v4
18g.23535553G=CA2290163881NPC1c.3393C= (p.Ile1131=)
c.148C=
n.148C=
c.2471C=
c.70C=
c.3444C= (p.Ile1148=)
c.2979C= (p.Ile993=)
18g.23535553G>TCA503521690NPC1c.3393C>A (p.Ile1131=)
c.148C>A
n.148C>A
c.2471C>A
c.70C>A
c.3444C>A (p.Ile1148=)
c.2979C>A (p.Ile993=)
18g.23535554A>CCA401791302NPC1c.3392T>G (p.Ile1131Ser)
c.147T>G
n.147T>G
c.2470T>G
c.69T>G
c.3443T>G (p.Ile1148Ser)
c.2978T>G (p.Ile993Ser)
18g.23535554A>GCA401791303NPC1c.3392T>C (p.Ile1131Thr)
c.147T>C
n.147T>C
c.2470T>C
c.69T>C
c.3443T>C (p.Ile1148Thr)
c.2978T>C (p.Ile993Thr)
 gnomAD v4
18g.23535554A>TCA401791304NPC1c.3392T>A (p.Ile1131Asn)
c.147T>A
n.147T>A
c.2470T>A
c.69T>A
c.3443T>A (p.Ile1148Asn)
c.2978T>A (p.Ile993Asn)
18g.23535555T>ACA401791305NPC1c.3391A>T (p.Ile1131Phe)
c.146A>T
n.146A>T
c.2469A>T
c.68A>T
c.3442A>T (p.Ile1148Phe)
c.2977A>T (p.Ile993Phe)
18g.23535555T>CCA401791306NPC1c.3391A>G (p.Ile1131Val)
c.146A>G
n.146A>G
c.2469A>G
c.68A>G
c.3442A>G (p.Ile1148Val)
c.2977A>G (p.Ile993Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.23535555T>GCA401791307NPC1c.3391A>C (p.Ile1131Leu)
c.146A>C
n.146A>C
c.2469A>C
c.68A>C
c.3442A>C (p.Ile1148Leu)
c.2977A>C (p.Ile993Leu)
18g.23535555T=CA2290163882NPC1c.3391A= (p.Ile1131=)
c.146A=
n.146A=
c.2469A=
c.68A=
c.3442A= (p.Ile1148=)
c.2977A= (p.Ile993=)
18g.23535556G>ACA503521691NPC1c.3390C>T (p.Thr1130=)
c.145C>T
n.145C>T
c.2468C>T
c.67C>T
c.3441C>T (p.Thr1147=)
c.2976C>T (p.Thr992=)
 gnomAD v4
18g.23535556G>CCA503521692NPC1c.3390C>G (p.Thr1130=)
c.145C>G
n.145C>G
c.2468C>G
c.67C>G
c.3441C>G (p.Thr1147=)
c.2976C>G (p.Thr992=)
18g.23535556G>TCA503521693NPC1c.3390C>A (p.Thr1130=)
c.145C>A
n.145C>A
c.2468C>A
c.67C>A
c.3441C>A (p.Thr1147=)
c.2976C>A (p.Thr992=)
18g.23535557G>ACA401791308NPC1c.3389C>T (p.Thr1130Ile)
c.144C>T
n.144C>T
c.2467C>T
c.66C>T
c.3440C>T (p.Thr1147Ile)
c.2975C>T (p.Thr992Ile)
18g.23535557G>CCA401791309NPC1c.3389C>G (p.Thr1130Ser)
c.144C>G
n.144C>G
c.2467C>G
c.66C>G
c.3440C>G (p.Thr1147Ser)
c.2975C>G (p.Thr992Ser)
18g.23535557G>TCA401791310NPC1c.3389C>A (p.Thr1130Asn)
c.144C>A
n.144C>A
c.2467C>A
c.66C>A
c.3440C>A (p.Thr1147Asn)
c.2975C>A (p.Thr992Asn)
18g.23535558T>ACA401791311NPC1c.3388A>T (p.Thr1130Ser)
c.143A>T
n.143A>T
c.2466A>T
c.65A>T
c.3439A>T (p.Thr1147Ser)
c.2974A>T (p.Thr992Ser)
18g.23535558T>CCA401791312NPC1c.3388A>G (p.Thr1130Ala)
c.143A>G
n.143A>G
c.2466A>G
c.65A>G
c.3439A>G (p.Thr1147Ala)
c.2974A>G (p.Thr992Ala)
 dbSNP gnomAD v2 gnomAD v4
18g.23535558T>GCA401791313NPC1c.3388A>C (p.Thr1130Pro)
c.143A>C
n.143A>C
c.2466A>C
c.65A>C
c.3439A>C (p.Thr1147Pro)
c.2974A>C (p.Thr992Pro)
18g.23535558T=CA2290163883NPC1c.3388A= (p.Thr1130=)
c.143A=
n.143A=
c.2466A=
c.65A=
c.3439A= (p.Thr1147=)
c.2974A= (p.Thr992=)
18g.23535559G>ACA8912786NPC1c.3387C>T (p.Ala1129=)
c.142C>T
n.142C>T
c.2465C>T
c.64C>T
c.3438C>T (p.Ala1146=)
c.2973C>T (p.Ala991=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.23535559G>CCA503521694NPC1c.3387C>G (p.Ala1129=)
c.142C>G
n.142C>G
c.2465C>G
c.64C>G
c.3438C>G (p.Ala1146=)
c.2973C>G (p.Ala991=)
18g.23535559G=CA2290163884NPC1c.3387C= (p.Ala1129=)
c.142C=
n.142C=
c.2465C=
c.64C=
c.3438C= (p.Ala1146=)
c.2973C= (p.Ala991=)
18g.23535559G>TCA503521695NPC1c.3387C>A (p.Ala1129=)
c.142C>A
n.142C>A
c.2465C>A
c.64C>A
c.3438C>A (p.Ala1146=)
c.2973C>A (p.Ala991=)
18g.23535560G>ACA401791315NPC1c.3386C>T (p.Ala1129Val)
c.141C>T
n.141C>T
c.2464C>T
c.63C>T
c.3437C>T (p.Ala1146Val)
c.2972C>T (p.Ala991Val)
18g.23535560G>CCA401791316NPC1c.3386C>G (p.Ala1129Gly)
c.141C>G
n.141C>G
c.2464C>G
c.63C>G
c.3437C>G (p.Ala1146Gly)
c.2972C>G (p.Ala991Gly)
18g.23535560G>TCA401791314NPC1c.3386C>A (p.Ala1129Asp)
c.141C>A
n.141C>A
c.2464C>A
c.63C>A
c.3437C>A (p.Ala1146Asp)
c.2972C>A (p.Ala991Asp)
18g.23535561C>ACA401791318NPC1c.3385G>T (p.Ala1129Ser)
c.140G>T
n.140G>T
c.2463G>T
c.62G>T
c.3436G>T (p.Ala1146Ser)
c.2971G>T (p.Ala991Ser)
18g.23535561C>GCA401791317NPC1c.3385G>C (p.Ala1129Pro)
c.140G>C
n.140G>C
c.2463G>C
c.62G>C
c.3436G>C (p.Ala1146Pro)
c.2971G>C (p.Ala991Pro)
18g.23535561C>TCA401791319NPC1c.3385G>A (p.Ala1129Thr)
c.140G>A
n.140G>A
c.2463G>A
c.62G>A
c.3436G>A (p.Ala1146Thr)
c.2971G>A (p.Ala991Thr)
 gnomAD v4
18g.23535562A>CCA401791320NPC1c.3384T>G (p.Cys1128Trp)
c.139T>G
n.139T>G
c.2462T>G
c.61T>G
c.3435T>G (p.Cys1145Trp)
c.2970T>G (p.Cys990Trp)
18g.23535562A>GCA503521696NPC1c.3384T>C (p.Cys1128=)
c.139T>C
n.139T>C
c.2462T>C
c.61T>C
c.3435T>C (p.Cys1145=)
c.2970T>C (p.Cys990=)
 dbSNP
18g.23535562A>TCA401791321NPC1c.3384T>A (p.Cys1128Ter)
c.139T>A
n.139T>A
c.2462T>A
c.61T>A
c.3435T>A (p.Cys1145Ter)
c.2970T>A (p.Cys990Ter)
18g.23535563C>ACA401791322NPC1c.3383G>T (p.Cys1128Phe)
c.138G>T
n.138G>T
c.2461G>T
c.60G>T
c.3434G>T (p.Cys1145Phe)
c.2969G>T (p.Cys990Phe)
18g.23535563C>GCA401791324NPC1c.3383G>C (p.Cys1128Ser)
c.138G>C
n.138G>C
c.2461G>C
c.60G>C
c.3434G>C (p.Cys1145Ser)
c.2969G>C (p.Cys990Ser)
18g.23535563C>TCA401791323NPC1c.3383G>A (p.Cys1128Tyr)
c.138G>A
n.138G>A
c.2461G>A
c.60G>A
c.3434G>A (p.Cys1145Tyr)
c.2969G>A (p.Cys990Tyr)
 gnomAD v4
18g.23535564A>CCA401791325NPC1c.3382T>G (p.Cys1128Gly)
c.137T>G
n.137T>G
c.2460T>G
c.59T>G
c.3433T>G (p.Cys1145Gly)
c.2968T>G (p.Cys990Gly)
18g.23535564A>GCA401791326NPC1c.3382T>C (p.Cys1128Arg)
c.137T>C
n.137T>C
c.2460T>C
c.59T>C
c.3433T>C (p.Cys1145Arg)
c.2968T>C (p.Cys990Arg)
 gnomAD v4
18g.23535564A>TCA401791327NPC1c.3382T>A (p.Cys1128Ser)
c.137T>A
n.137T>A
c.2460T>A
c.59T>A
c.3433T>A (p.Cys1145Ser)
c.2968T>A (p.Cys990Ser)
18g.23535565C>ACA401791328NPC1c.3381G>T (p.Met1127Ile)
c.136G>T
n.136G>T
c.2459G>T
c.58G>T
c.3432G>T (p.Met1144Ile)
c.2967G>T (p.Met989Ile)
18g.23535565C>GCA401791329NPC1c.3381G>C (p.Met1127Ile)
c.136G>C
n.136G>C
c.2459G>C
c.58G>C
c.3432G>C (p.Met1144Ile)
c.2967G>C (p.Met989Ile)
18g.23535565C>TCA401791330NPC1c.3381G>A (p.Met1127Ile)
c.136G>A
n.136G>A
c.2459G>A
c.58G>A
c.3432G>A (p.Met1144Ile)
c.2967G>A (p.Met989Ile)
 ClinVar dbSNP gnomAD v4
18g.23535565_23535567delinsCATCA2290163885NPC1c.3379_3381delinsATG (p.Met1127=)
c.134_136delinsATG
n.134_136delinsATG
c.2457_2459delinsATG
c.56_58delinsATG
c.3430_3432delinsATG (p.Met1144=)
c.2965_2967delinsATG (p.Met989=)
18g.23535566A=CA2290163886NPC1c.3380T= (p.Met1127=)
c.135T=
n.135T=
c.2458T=
c.57T=
c.3431T= (p.Met1144=)
c.2966T= (p.Met989=)
18g.23535566A>CCA401791331NPC1c.3380T>G (p.Met1127Arg)
c.135T>G
n.135T>G
c.2458T>G
c.57T>G
c.3431T>G (p.Met1144Arg)
c.2966T>G (p.Met989Arg)
18g.23535566A>GCA401791332NPC1c.3380T>C (p.Met1127Thr)
c.135T>C
n.135T>C
c.2458T>C
c.57T>C
c.3431T>C (p.Met1144Thr)
c.2966T>C (p.Met989Thr)
 ClinVar dbSNP gnomAD v4
18g.23535566A>TCA401791333NPC1c.3380T>A (p.Met1127Lys)
c.135T>A
n.135T>A
c.2458T>A
c.57T>A
c.3431T>A (p.Met1144Lys)
c.2966T>A (p.Met989Lys)
18g.23535566_23535567delCA916083636NPC1c.3379_3380del (p.Met1127ValfsTer?)
c.134_135del
n.134_135del
c.2457_2458del
c.56_57del
c.3430_3431del (p.Met1144ValfsTer?)
c.2965_2966del (p.Met989ValfsTer?)
 ClinVar dbSNP gnomAD v4
18g.23535567T>ACA401791334NPC1c.3379A>T (p.Met1127Leu)
c.134A>T
n.134A>T
c.2457A>T
c.56A>T
c.3430A>T (p.Met1144Leu)
c.2965A>T (p.Met989Leu)
18g.23535567T>CCA8912787NPC1c.3379A>G (p.Met1127Val)
c.134A>G
n.134A>G
c.2457A>G
c.56A>G
c.3430A>G (p.Met1144Val)
c.2965A>G (p.Met989Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23535567T>GCA401791335NPC1c.3379A>C (p.Met1127Leu)
c.134A>C
n.134A>C
c.2457A>C
c.56A>C
c.3430A>C (p.Met1144Leu)
c.2965A>C (p.Met989Leu)
18g.23535567T=CA2290163887NPC1c.3379A= (p.Met1127=)
c.134A=
n.134A=
c.2457A=
c.56A=
c.3430A= (p.Met1144=)
c.2965A= (p.Met989=)
18g.23535568G>ACA8912788NPC1c.3378C>T (p.Ile1126=)
c.133C>T
n.133C>T
c.2456C>T
c.55C>T
c.3429C>T (p.Ile1143=)
c.2964C>T (p.Ile988=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23535568G>CCA401791336NPC1c.3378C>G (p.Ile1126Met)
c.133C>G
n.133C>G
c.2456C>G
c.55C>G
c.3429C>G (p.Ile1143Met)
c.2964C>G (p.Ile988Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
18g.23535568G=CA2290163888NPC1c.3378C= (p.Ile1126=)
c.133C=
n.133C=
c.2456C=
c.55C=
c.3429C= (p.Ile1143=)
c.2964C= (p.Ile988=)
18g.23535568G>TCA503521697NPC1c.3378C>A (p.Ile1126=)
c.133C>A
n.133C>A
c.2456C>A
c.55C>A
c.3429C>A (p.Ile1143=)
c.2964C>A (p.Ile988=)
18g.23535569A=CA2290163889NPC1c.3377T= (p.Ile1126=)
c.132T=
n.132T=
c.2455T=
c.54T=
c.3428T= (p.Ile1143=)
c.2963T= (p.Ile988=)
18g.23535569A>CCA401791337NPC1c.3377T>G (p.Ile1126Ser)
c.132T>G
n.132T>G
c.2455T>G
c.54T>G
c.3428T>G (p.Ile1143Ser)
c.2963T>G (p.Ile988Ser)
18g.23535569A>GCA297079185NPC1c.3377T>C (p.Ile1126Thr)
c.132T>C
n.132T>C
c.2455T>C
c.54T>C
c.3428T>C (p.Ile1143Thr)
c.2963T>C (p.Ile988Thr)
 dbSNP gnomAD v4
18g.23535569A>TCA401791338NPC1c.3377T>A (p.Ile1126Asn)
c.132T>A
n.132T>A
c.2455T>A
c.54T>A
c.3428T>A (p.Ile1143Asn)
c.2963T>A (p.Ile988Asn)
 COSMIC COSMIC
18g.23535570T>ACA401791339NPC1c.3376A>T (p.Ile1126Phe)
c.131A>T
n.131A>T
c.2454A>T
c.53A>T
c.3427A>T (p.Ile1143Phe)
c.2962A>T (p.Ile988Phe)
18g.23535570T>CCA401791340NPC1c.3376A>G (p.Ile1126Val)
c.131A>G
n.131A>G
c.2454A>G
c.53A>G
c.3427A>G (p.Ile1143Val)
c.2962A>G (p.Ile988Val)
 dbSNP gnomAD v3 gnomAD v4
18g.23535570T>GCA401791341NPC1c.3376A>C (p.Ile1126Leu)
c.131A>C
n.131A>C
c.2454A>C
c.53A>C
c.3427A>C (p.Ile1143Leu)
c.2962A>C (p.Ile988Leu)
 ClinVar
18g.23535570T=CA2290163890NPC1c.3376A= (p.Ile1126=)
c.131A=
n.131A=
c.2454A=
c.53A=
c.3427A= (p.Ile1143=)
c.2962A= (p.Ile988=)
18g.23535571G>ACA8912789NPC1c.3375C>T (p.Val1125=)
c.130C>T
n.130C>T
c.2453C>T
c.52C>T
c.3426C>T (p.Val1142=)
c.2961C>T (p.Val987=)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23535571G>CCA503521699NPC1c.3375C>G (p.Val1125=)
c.130C>G
n.130C>G
c.2453C>G
c.52C>G
c.3426C>G (p.Val1142=)
c.2961C>G (p.Val987=)
18g.23535571G=CA2290163891NPC1c.3375C= (p.Val1125=)
c.130C=
n.130C=
c.2453C=
c.52C=
c.3426C= (p.Val1142=)
c.2961C= (p.Val987=)
18g.23535571G>TCA503521698NPC1c.3375C>A (p.Val1125=)
c.130C>A
n.130C>A
c.2453C>A
c.52C>A
c.3426C>A (p.Val1142=)
c.2961C>A (p.Val987=)
18g.23535572A>CCA401791342NPC1c.3374T>G (p.Val1125Gly)
c.129T>G
n.129T>G
c.2452T>G
c.51T>G
c.3425T>G (p.Val1142Gly)
c.2960T>G (p.Val987Gly)
18g.23535572A>GCA401791343NPC1c.3374T>C (p.Val1125Ala)
c.129T>C
n.129T>C
c.2452T>C
c.51T>C
c.3425T>C (p.Val1142Ala)
c.2960T>C (p.Val987Ala)
18g.23535572A>TCA401791344NPC1c.3374T>A (p.Val1125Asp)
c.129T>A
n.129T>A
c.2452T>A
c.51T>A
c.3425T>A (p.Val1142Asp)
c.2960T>A (p.Val987Asp)
18g.23535573C>ACA8912790NPC1c.3373G>T (p.Val1125Phe)
c.128G>T
n.128G>T
c.2451G>T
c.50G>T
c.3424G>T (p.Val1142Phe)
c.2959G>T (p.Val987Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
18g.23535573C=CA2290163892NPC1c.3373G= (p.Val1125=)
c.128G=
n.128G=
c.2451G=
c.50G=
c.3424G= (p.Val1142=)
c.2959G= (p.Val987=)
18g.23535573C>GCA401791345NPC1c.3373G>C (p.Val1125Leu)
c.128G>C
n.128G>C
c.2451G>C
c.50G>C
c.3424G>C (p.Val1142Leu)
c.2959G>C (p.Val987Leu)
 gnomAD v4
18g.23535573C>TCA401791346NPC1c.3373G>A (p.Val1125Ile)
c.128G>A
n.128G>A
c.2451G>A
c.50G>A
c.3424G>A (p.Val1142Ile)
c.2959G>A (p.Val987Ile)
 gnomAD v4
18g.23535574T>ACA503521700NPC1c.3372A>T (p.Ala1124=)
c.127A>T
n.127A>T
c.2450A>T
c.49A>T
c.3423A>T (p.Ala1141=)
c.2958A>T (p.Ala986=)
 dbSNP
18g.23535574T>CCA503521701NPC1c.3372A>G (p.Ala1124=)
c.127A>G
n.127A>G
c.2450A>G
c.49A>G
c.3423A>G (p.Ala1141=)
c.2958A>G (p.Ala986=)
18g.23535574T>GCA503521702NPC1c.3372A>C (p.Ala1124=)
c.127A>C
n.127A>C
c.2450A>C
c.49A>C
c.3423A>C (p.Ala1141=)
c.2958A>C (p.Ala986=)
18g.23535575G>ACA401791349NPC1c.3371C>T (p.Ala1124Val)
c.126C>T
n.126C>T
c.2449C>T
c.48C>T
c.3422C>T (p.Ala1141Val)
c.2957C>T (p.Ala986Val)
18g.23535575G>CCA401791347NPC1c.3371C>G (p.Ala1124Gly)
c.126C>G
n.126C>G
c.2449C>G
c.48C>G
c.3422C>G (p.Ala1141Gly)
c.2957C>G (p.Ala986Gly)
18g.23535575G>TCA401791348NPC1c.3371C>A (p.Ala1124Glu)
c.126C>A
n.126C>A
c.2449C>A
c.48C>A
c.3422C>A (p.Ala1141Glu)
c.2957C>A (p.Ala986Glu)
18g.23535576C>ACA401791350NPC1c.3370G>T (p.Ala1124Ser)
c.125G>T
n.125G>T
c.2448G>T
c.47G>T
c.3421G>T (p.Ala1141Ser)
c.2956G>T (p.Ala986Ser)
18g.23535576C>GCA401791351NPC1c.3370G>C (p.Ala1124Pro)
c.125G>C
n.125G>C
c.2448G>C
c.47G>C
c.3421G>C (p.Ala1141Pro)
c.2956G>C (p.Ala986Pro)
18g.23535576C>TCA401791352NPC1c.3370G>A (p.Ala1124Thr)
c.125G>A
n.125G>A
c.2448G>A
c.47G>A
c.3421G>A (p.Ala1141Thr)
c.2956G>A (p.Ala986Thr)
 gnomAD v4
18g.23535577A>CCA503521703NPC1c.3369T>G (p.Ser1123=)
c.124T>G
n.124T>G
c.2447T>G
c.46T>G
c.3420T>G (p.Ser1140=)
c.2955T>G (p.Ser985=)
18g.23535577A>GCA503521704NPC1c.3369T>C (p.Ser1123=)
c.124T>C
n.124T>C
c.2447T>C
c.46T>C
c.3420T>C (p.Ser1140=)
c.2955T>C (p.Ser985=)
18g.23535577A>TCA503521705NPC1c.3369T>A (p.Ser1123=)
c.124T>A
n.124T>A
c.2447T>A
c.46T>A
c.3420T>A (p.Ser1140=)
c.2955T>A (p.Ser985=)
18g.23535578G>ACA401791353NPC1c.3368C>T (p.Ser1123Phe)
c.123C>T
n.123C>T
c.2446C>T
c.45C>T
c.3419C>T (p.Ser1140Phe)
c.2954C>T (p.Ser985Phe)
18g.23535578G>CCA401791354NPC1c.3368C>G (p.Ser1123Cys)
c.123C>G
n.123C>G
c.2446C>G
c.45C>G
c.3419C>G (p.Ser1140Cys)
c.2954C>G (p.Ser985Cys)
18g.23535578G>TCA401791355NPC1c.3368C>A (p.Ser1123Tyr)
c.123C>A
n.123C>A
c.2446C>A
c.45C>A
c.3419C>A (p.Ser1140Tyr)
c.2954C>A (p.Ser985Tyr)
18g.23535579A>CCA401791358NPC1c.3367T>G (p.Ser1123Ala)
c.122T>G
n.122T>G
c.2445T>G
c.44T>G
c.3418T>G (p.Ser1140Ala)
c.2953T>G (p.Ser985Ala)
18g.23535579A>GCA401791357NPC1c.3367T>C (p.Ser1123Pro)
c.122T>C
n.122T>C
c.2445T>C
c.44T>C
c.3418T>C (p.Ser1140Pro)
c.2953T>C (p.Ser985Pro)
 gnomAD v4
18g.23535579A>TCA401791356NPC1c.3367T>A (p.Ser1123Thr)
c.122T>A
n.122T>A
c.2445T>A
c.44T>A
c.3418T>A (p.Ser1140Thr)
c.2953T>A (p.Ser985Thr)
18g.23535580C>ACA401791359NPC1c.3366G>T (p.Trp1122Cys)
c.121G>T
n.121G>T
c.2444G>T
c.43G>T
c.3417G>T (p.Trp1139Cys)
c.2952G>T (p.Trp984Cys)
18g.23535580C=CA2290163893NPC1c.3366G= (p.Trp1122=)
c.121G=
n.121G=
c.2444G=
c.43G=
c.3417G= (p.Trp1139=)
c.2952G= (p.Trp984=)
18g.23535580C>GCA401791360NPC1c.3366G>C (p.Trp1122Cys)
c.121G>C
n.121G>C
c.2444G>C
c.43G>C
c.3417G>C (p.Trp1139Cys)
c.2952G>C (p.Trp984Cys)
18g.23535580C>TCA401791361NPC1c.3366G>A (p.Trp1122Ter)
c.121G>A
n.121G>A
c.2444G>A
c.43G>A
c.3417G>A (p.Trp1139Ter)
c.2952G>A (p.Trp984Ter)
18g.23535580_23535581insACA777716018NPC1c.3365_3366insT (p.Trp1122CysfsTer?)
c.120_121insT
n.120_121insT
c.2443_2444insT
c.42_43insT
c.3416_3417insT (p.Trp1139CysfsTer?)
c.2951_2952insT (p.Trp984CysfsTer?)
 dbSNP
18g.23535581C>ACA401791362NPC1c.3365G>T (p.Trp1122Leu)
c.120G>T
n.120G>T
c.2443G>T
c.42G>T
c.3416G>T (p.Trp1139Leu)
c.2951G>T (p.Trp984Leu)
18g.23535581C>GCA401791363NPC1c.3365G>C (p.Trp1122Ser)
c.120G>C
n.120G>C
c.2443G>C
c.42G>C
c.3416G>C (p.Trp1139Ser)
c.2951G>C (p.Trp984Ser)
18g.23535581C>TCA401791364NPC1c.3365G>A (p.Trp1122Ter)
c.120G>A
n.120G>A
c.2443G>A
c.42G>A
c.3416G>A (p.Trp1139Ter)
c.2951G>A (p.Trp984Ter)
18g.23535581_23535583delCA2641278414NPC1c.3363_3365del (p.Trp1122del)
c.118_120del
n.118_120del
c.2441_2443del
c.40_42del
c.3414_3416del (p.Trp1139del)
c.2949_2951del (p.Trp984del)
 gnomAD v4
18g.23535582A=CA2290163894NPC1c.3364T= (p.Trp1122=)
c.119T=
n.119T=
c.2442T=
c.41T=
c.3415T= (p.Trp1139=)
c.2950T= (p.Trp984=)
18g.23535582A>CCA401791365NPC1c.3364T>G (p.Trp1122Gly)
c.119T>G
n.119T>G
c.2442T>G
c.41T>G
c.3415T>G (p.Trp1139Gly)
c.2950T>G (p.Trp984Gly)
18g.23535582A>GCA8912791NPC1c.3364T>C (p.Trp1122Arg)
c.119T>C
n.119T>C
c.2442T>C
c.41T>C
c.3415T>C (p.Trp1139Arg)
c.2950T>C (p.Trp984Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23535582A>TCA401791366NPC1c.3364T>A (p.Trp1122Arg)
c.119T>A
n.119T>A
c.2442T>A
c.41T>A
c.3415T>A (p.Trp1139Arg)
c.2950T>A (p.Trp984Arg)
18g.23535583G>ACA503521706NPC1c.3363C>T (p.Leu1121=)
c.118C>T
n.118C>T
c.2441C>T
c.40C>T
c.3414C>T (p.Leu1138=)
c.2949C>T (p.Leu983=)
18g.23535583G>CCA503521707NPC1c.3363C>G (p.Leu1121=)
c.118C>G
n.118C>G
c.2441C>G
c.40C>G
c.3414C>G (p.Leu1138=)
c.2949C>G (p.Leu983=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23535583G=CA2290163895NPC1c.3363C= (p.Leu1121=)
c.118C=
n.118C=
c.2441C=
c.40C=
c.3414C= (p.Leu1138=)
c.2949C= (p.Leu983=)
18g.23535583G>TCA503521708NPC1c.3363C>A (p.Leu1121=)
c.118C>A
n.118C>A
c.2441C>A
c.40C>A
c.3414C>A (p.Leu1138=)
c.2949C>A (p.Leu983=)
18g.23535584A=CA2290163896NPC1c.3362T= (p.Leu1121=)
c.117T=
n.117T=
c.2440T=
c.39T=
c.3413T= (p.Leu1138=)
c.2948T= (p.Leu983=)
18g.23535584A>CCA401791367NPC1c.3362T>G (p.Leu1121Arg)
c.117T>G
n.117T>G
c.2440T>G
c.39T>G
c.3413T>G (p.Leu1138Arg)
c.2948T>G (p.Leu983Arg)
 dbSNP gnomAD v4
18g.23535584A>GCA401791368NPC1c.3362T>C (p.Leu1121Pro)
c.117T>C
n.117T>C
c.2440T>C
c.39T>C
c.3413T>C (p.Leu1138Pro)
c.2948T>C (p.Leu983Pro)
 gnomAD v4
18g.23535584A>TCA401791369NPC1c.3362T>A (p.Leu1121His)
c.117T>A
n.117T>A
c.2440T>A
c.39T>A
c.3413T>A (p.Leu1138His)
c.2948T>A (p.Leu983His)
18g.23535585G>ACA401791370NPC1c.3361C>T (p.Leu1121Phe)
c.116C>T
n.116C>T
c.2439C>T
c.38C>T
c.3412C>T (p.Leu1138Phe)
c.2947C>T (p.Leu983Phe)
 dbSNP
18g.23535585G>CCA401791371NPC1c.3361C>G (p.Leu1121Val)
c.116C>G
n.116C>G
c.2439C>G
c.38C>G
c.3412C>G (p.Leu1138Val)
c.2947C>G (p.Leu983Val)
18g.23535585G=CA2290163897NPC1c.3361C= (p.Leu1121=)
c.116C=
n.116C=
c.2439C=
c.38C=
c.3412C= (p.Leu1138=)
c.2947C= (p.Leu983=)
18g.23535585G>TCA8912792NPC1c.3361C>A (p.Leu1121Ile)
c.116C>A
n.116C>A
c.2439C>A
c.38C>A
c.3412C>A (p.Leu1138Ile)
c.2947C>A (p.Leu983Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23535586C>ACA401791372NPC1c.3360G>T (p.Glu1120Asp)
c.115G>T
n.115G>T
c.2438G>T
c.37G>T
c.3411G>T (p.Glu1137Asp)
c.2946G>T (p.Glu982Asp)
18g.23535586C>GCA401791373NPC1c.3360G>C (p.Glu1120Asp)
c.115G>C
n.115G>C
c.2438G>C
c.37G>C
c.3411G>C (p.Glu1137Asp)
c.2946G>C (p.Glu982Asp)
18g.23535586C>TCA503521709NPC1c.3360G>A (p.Glu1120=)
c.115G>A
n.115G>A
c.2438G>A
c.37G>A
c.3411G>A (p.Glu1137=)
c.2946G>A (p.Glu982=)
18g.23535586_23535587insGTCA2580095542NPC1c.3359_3360insAC (p.Leu1121ArgfsTer30)
c.114_115insAC
n.114_115insAC
c.2437_2438insAC
c.36_37insAC
c.3410_3411insAC (p.Leu1138ArgfsTer30)
c.2945_2946insAC (p.Leu983ArgfsTer30)
 ClinVar
18g.23535587T>ACA401791374NPC1c.3359A>T (p.Glu1120Val)
c.114A>T
n.114A>T
c.2437A>T
c.36A>T
c.3410A>T (p.Glu1137Val)
c.2945A>T (p.Glu982Val)
18g.23535587T>CCA401791375NPC1c.3359A>G (p.Glu1120Gly)
c.114A>G
n.114A>G
c.2437A>G
c.36A>G
c.3410A>G (p.Glu1137Gly)
c.2945A>G (p.Glu982Gly)
18g.23535587T>GCA401791376NPC1c.3359A>C (p.Glu1120Ala)
c.114A>C
n.114A>C
c.2437A>C
c.36A>C
c.3410A>C (p.Glu1137Ala)
c.2945A>C (p.Glu982Ala)
18g.23535588C>ACA401791379NPC1c.3358G>T (p.Glu1120Ter)
c.113G>T
n.113G>T
c.2436G>T
c.35G>T
c.3409G>T (p.Glu1137Ter)
c.2944G>T (p.Glu982Ter)
18g.23535588C>GCA401791377NPC1c.3358G>C (p.Glu1120Gln)
c.113G>C
n.113G>C
c.2436G>C
c.35G>C
c.3409G>C (p.Glu1137Gln)
c.2944G>C (p.Glu982Gln)
18g.23535588C>TCA401791378NPC1c.3358G>A (p.Glu1120Lys)
c.113G>A
n.113G>A
c.2436G>A
c.35G>A
c.3409G>A (p.Glu1137Lys)
c.2944G>A (p.Glu982Lys)
18g.23535589A>CCA401791380NPC1c.3357T>G (p.Cys1119Trp)
c.112T>G
n.112T>G
c.2435T>G
c.34T>G
c.3408T>G (p.Cys1136Trp)
c.2943T>G (p.Cys981Trp)
 gnomAD v4
18g.23535589A>GCA503521710NPC1c.3357T>C (p.Cys1119=)
c.112T>C
n.112T>C
c.2435T>C
c.34T>C
c.3408T>C (p.Cys1136=)
c.2943T>C (p.Cys981=)
18g.23535589A>TCA401791381NPC1c.3357T>A (p.Cys1119Ter)
c.112T>A
n.112T>A
c.2435T>A
c.34T>A
c.3408T>A (p.Cys1136Ter)
c.2943T>A (p.Cys981Ter)
18g.23535590C>ACA401791382NPC1c.3356G>T (p.Cys1119Phe)
c.111G>T
n.111G>T
c.2434G>T
c.33G>T
c.3407G>T (p.Cys1136Phe)
c.2942G>T (p.Cys981Phe)
18g.23535590C=CA2290163898NPC1c.3356G= (p.Cys1119=)
c.111G=
n.111G=
c.2434G=
c.33G=
c.3407G= (p.Cys1136=)
c.2942G= (p.Cys981=)
18g.23535590C>GCA401791383NPC1c.3356G>C (p.Cys1119Ser)
c.111G>C
n.111G>C
c.2434G>C
c.33G>C
c.3407G>C (p.Cys1136Ser)
c.2942G>C (p.Cys981Ser)
18g.23535590C>TCA401791384NPC1c.3356G>A (p.Cys1119Tyr)
c.111G>A
n.111G>A
c.2434G>A
c.33G>A
c.3407G>A (p.Cys1136Tyr)
c.2942G>A (p.Cys981Tyr)
 ClinVar dbSNP gnomAD v4
18g.23535591A=CA2290163899NPC1c.3355T= (p.Cys1119=)
c.110T=
n.110T=
c.2433T=
c.32T=
c.3406T= (p.Cys1136=)
c.2941T= (p.Cys981=)
18g.23535591A>CCA401791385NPC1c.3355T>G (p.Cys1119Gly)
c.110T>G
n.110T>G
c.2433T>G
c.32T>G
c.3406T>G (p.Cys1136Gly)
c.2941T>G (p.Cys981Gly)
 gnomAD v4
18g.23535591A>GCA401791386NPC1c.3355T>C (p.Cys1119Arg)
c.110T>C
n.110T>C
c.2433T>C
c.32T>C
c.3406T>C (p.Cys1136Arg)
c.2941T>C (p.Cys981Arg)
 dbSNP gnomAD v2 gnomAD v4
18g.23535591A>TCA401791387NPC1c.3355T>A (p.Cys1119Ser)
c.110T>A
n.110T>A
c.2433T>A
c.32T>A
c.3406T>A (p.Cys1136Ser)
c.2941T>A (p.Cys981Ser)
18g.23535592G>ACA503521712NPC1c.3354C>T (p.Gly1118=)
c.109C>T
n.109C>T
c.2432C>T
c.31C>T
c.3405C>T (p.Gly1135=)
c.2940C>T (p.Gly980=)
 ClinVar
18g.23535592G>CCA503521713NPC1c.3354C>G (p.Gly1118=)
c.109C>G
n.109C>G
c.2432C>G
c.31C>G
c.3405C>G (p.Gly1135=)
c.2940C>G (p.Gly980=)
18g.23535592G>TCA503521711NPC1c.3354C>A (p.Gly1118=)
c.109C>A
n.109C>A
c.2432C>A
c.31C>A
c.3405C>A (p.Gly1135=)
c.2940C>A (p.Gly980=)
18g.23535592_23535593delinsGCCA2290163900NPC1c.3353_3354delinsGC (p.Gly1118=)
c.108_109delinsGC
n.108_109delinsGC
c.2431_2432delinsGC
c.30_31delinsGC
c.3404_3405delinsGC (p.Gly1135=)
c.2939_2940delinsGC (p.Gly980=)
18g.23535593C>ACA401791388NPC1c.3353G>T (p.Gly1118Val)
c.108G>T
n.108G>T
c.2431G>T
c.30G>T
c.3404G>T (p.Gly1135Val)
c.2939G>T (p.Gly980Val)
18g.23535593C=CA2290163902NPC1c.3353G= (p.Gly1118=)
c.108G=
n.108G=
c.2431G=
c.30G=
c.3404G= (p.Gly1135=)
c.2939G= (p.Gly980=)
18g.23535593C>GCA401791389NPC1c.3353G>C (p.Gly1118Ala)
c.108G>C
n.108G>C
c.2431G>C
c.30G>C
c.3404G>C (p.Gly1135Ala)
c.2939G>C (p.Gly980Ala)
18g.23535593C>TCA401791390NPC1c.3353G>A (p.Gly1118Asp)
c.108G>A
n.108G>A
c.2431G>A
c.30G>A
c.3404G>A (p.Gly1135Asp)
c.2939G>A (p.Gly980Asp)
 dbSNP
18g.23535595delCA2290163901NPC1c.3353del (p.Gly1118AlafsTer?)
c.108del
n.108del
c.2431del
c.30del
c.3404del (p.Gly1135AlafsTer?)
c.2939del (p.Gly980AlafsTer?)
 dbSNP
18g.23535594C>ACA401791391NPC1c.3352G>T (p.Gly1118Cys)
c.107G>T
n.107G>T
c.2430G>T
c.29G>T
c.3403G>T (p.Gly1135Cys)
c.2938G>T (p.Gly980Cys)
18g.23535594C=CA2290163903NPC1c.3352G= (p.Gly1118=)
c.107G=
n.107G=
c.2430G=
c.29G=
c.3403G= (p.Gly1135=)
c.2938G= (p.Gly980=)
18g.23535594C>GCA401791392NPC1c.3352G>C (p.Gly1118Arg)
c.107G>C
n.107G>C
c.2430G>C
c.29G>C
c.3403G>C (p.Gly1135Arg)
c.2938G>C (p.Gly980Arg)
18g.23535594C>TCA401791393NPC1c.3352G>A (p.Gly1118Ser)
c.107G>A
n.107G>A
c.2430G>A
c.29G>A
c.3403G>A (p.Gly1135Ser)
c.2938G>A (p.Gly980Ser)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
18g.23535595C>ACA503521716NPC1c.3351G>T (p.Leu1117=)
c.106G>T
n.106G>T
c.2429G>T
c.28G>T
c.3402G>T (p.Leu1134=)
c.2937G>T (p.Leu979=)
18g.23535595C>GCA503521715NPC1c.3351G>C (p.Leu1117=)
c.106G>C
n.106G>C
c.2429G>C
c.28G>C
c.3402G>C (p.Leu1134=)
c.2937G>C (p.Leu979=)
18g.23535595C>TCA503521714NPC1c.3351G>A (p.Leu1117=)
c.106G>A
n.106G>A
c.2429G>A
c.28G>A
c.3402G>A (p.Leu1134=)
c.2937G>A (p.Leu979=)
18g.23535596A=CA2290163904NPC1c.3350T= (p.Leu1117=)
c.105T=
n.105T=
c.2428T=
c.27T=
c.3401T= (p.Leu1134=)
c.2936T= (p.Leu979=)
18g.23535596A>CCA401791396NPC1c.3350T>G (p.Leu1117Arg)
c.105T>G
n.105T>G
c.2428T>G
c.27T>G
c.3401T>G (p.Leu1134Arg)
c.2936T>G (p.Leu979Arg)
18g.23535596A>GCA401791394NPC1c.3350T>C (p.Leu1117Pro)
c.105T>C
n.105T>C
c.2428T>C
c.27T>C
c.3401T>C (p.Leu1134Pro)
c.2936T>C (p.Leu979Pro)
18g.23535596A>TCA401791395NPC1c.3350T>A (p.Leu1117Gln)
c.105T>A
n.105T>A
c.2428T>A
c.27T>A
c.3401T>A (p.Leu1134Gln)
c.2936T>A (p.Leu979Gln)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.23535597G>ACA503521717NPC1c.3349C>T (p.Leu1117=)
c.104C>T
n.104C>T
c.2427C>T
c.26C>T
c.3400C>T (p.Leu1134=)
c.2935C>T (p.Leu979=)
18g.23535597G>CCA401791397NPC1c.3349C>G (p.Leu1117Val)
c.104C>G
n.104C>G
c.2427C>G
c.26C>G
c.3400C>G (p.Leu1134Val)
c.2935C>G (p.Leu979Val)
18g.23535597G>TCA401791398NPC1c.3349C>A (p.Leu1117Met)
c.104C>A
n.104C>A
c.2427C>A
c.26C>A
c.3400C>A (p.Leu1134Met)
c.2935C>A (p.Leu979Met)
18g.23535598dupCA2573054631NPC1c.3349dup (p.Leu1117ProfsTer4)
c.104dup
n.104dup
c.2427dup
c.26dup
c.3400dup (p.Leu1134ProfsTer4)
c.2935dup (p.Leu979ProfsTer4)
 ClinVar dbSNP
18g.23535598G>ACA503521720NPC1c.3348C>T (p.Leu1116=)
c.103C>T
n.103C>T
c.2426C>T
c.25C>T
c.3399C>T (p.Leu1133=)
c.2934C>T (p.Leu978=)
 COSMIC
18g.23535598G>CCA503521718NPC1c.3348C>G (p.Leu1116=)
c.103C>G
n.103C>G
c.2426C>G
c.25C>G
c.3399C>G (p.Leu1133=)
c.2934C>G (p.Leu978=)
18g.23535598G>TCA503521719NPC1c.3348C>A (p.Leu1116=)
c.103C>A
n.103C>A
c.2426C>A
c.25C>A
c.3399C>A (p.Leu1133=)
c.2934C>A (p.Leu978=)
18g.23535599_23535600delCA2695227423NPC1c.3347_3348del (p.Leu1116ProfsTer4)
c.102_103del
n.102_103del
c.2425_2426del
c.24_25del
c.3398_3399del (p.Leu1133ProfsTer4)
c.2933_2934del (p.Leu978ProfsTer4)
18g.23535599delCA2580095543NPC1c.3347del (p.Leu1116ProfsTer?)
c.102del
n.102del
c.2425del
c.24del
c.3398del (p.Leu1133ProfsTer?)
c.2933del (p.Leu978ProfsTer?)
 ClinVar
18g.23535599A>CCA401791399NPC1c.3347T>G (p.Leu1116Arg)
c.102T>G
n.102T>G
c.2425T>G
c.24T>G
c.3398T>G (p.Leu1133Arg)
c.2933T>G (p.Leu978Arg)
18g.23535599A>GCA401791400NPC1c.3347T>C (p.Leu1116Pro)
c.102T>C
n.102T>C
c.2425T>C
c.24T>C
c.3398T>C (p.Leu1133Pro)
c.2933T>C (p.Leu978Pro)
18g.23535599A>TCA401791401NPC1c.3347T>A (p.Leu1116His)
c.102T>A
n.102T>A
c.2425T>A
c.24T>A
c.3398T>A (p.Leu1133His)
c.2933T>A (p.Leu978His)
18g.23535600G>ACA401791402NPC1c.3346C>T (p.Leu1116Phe)
c.101C>T
n.101C>T
c.2424C>T
c.23C>T
c.3397C>T (p.Leu1133Phe)
c.2932C>T (p.Leu978Phe)
18g.23535600G>CCA401791403NPC1c.3346C>G (p.Leu1116Val)
c.101C>G
n.101C>G
c.2424C>G
c.23C>G
c.3397C>G (p.Leu1133Val)
c.2932C>G (p.Leu978Val)
 dbSNP gnomAD v2 gnomAD v4
18g.23535600G=CA2290163905NPC1c.3346C= (p.Leu1116=)
c.101C=
n.101C=
c.2424C=
c.23C=
c.3397C= (p.Leu1133=)
c.2932C= (p.Leu978=)
18g.23535600G>TCA401791404NPC1c.3346C>A (p.Leu1116Ile)
c.101C>A
n.101C>A
c.2424C>A
c.23C>A
c.3397C>A (p.Leu1133Ile)
c.2932C>A (p.Leu978Ile)
18g.23535601G>ACA503521721NPC1c.3345C>T (p.Val1115=)
c.100C>T
n.100C>T
c.2423C>T
c.22C>T
c.3396C>T (p.Val1132=)
c.2931C>T (p.Val977=)
 dbSNP gnomAD v4
18g.23535601G>CCA503521722NPC1c.3345C>G (p.Val1115=)
c.100C>G
n.100C>G
c.2423C>G
c.22C>G
c.3396C>G (p.Val1132=)
c.2931C>G (p.Val977=)
18g.23535601G=CA2290163906NPC1c.3345C= (p.Val1115=)
c.100C=
n.100C=
c.2423C=
c.22C=
c.3396C= (p.Val1132=)
c.2931C= (p.Val977=)
18g.23535601G>TCA503521723NPC1c.3345C>A (p.Val1115=)
c.100C>A
n.100C>A
c.2423C>A
c.22C>A
c.3396C>A (p.Val1132=)
c.2931C>A (p.Val977=)
18g.23535602A=CA2290163907NPC1c.3344T= (p.Val1115=)
c.99T=
n.99T=
c.2422T=
c.21T=
c.3395T= (p.Val1132=)
c.2930T= (p.Val977=)
18g.23535602A>CCA401791405NPC1c.3344T>G (p.Val1115Gly)
c.99T>G
n.99T>G
c.2422T>G
c.21T>G
c.3395T>G (p.Val1132Gly)
c.2930T>G (p.Val977Gly)
18g.23535602A>GCA297079211NPC1c.3344T>C (p.Val1115Ala)
c.99T>C
n.99T>C
c.2422T>C
c.21T>C
c.3395T>C (p.Val1132Ala)
c.2930T>C (p.Val977Ala)
 dbSNP gnomAD v2 gnomAD v4
18g.23535602A>TCA401791406NPC1c.3344T>A (p.Val1115Asp)
c.99T>A
n.99T>A
c.2422T>A
c.21T>A
c.3395T>A (p.Val1132Asp)
c.2930T>A (p.Val977Asp)
18g.23535603C>ACA145964NPC1c.3343G>T (p.Val1115Phe)
c.98G>T
n.98G>T
c.2421G>T
c.20G>T
c.3394G>T (p.Val1132Phe)
c.2929G>T (p.Val977Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23535603C=CA2290163908NPC1c.3343G= (p.Val1115=)
c.98G=
n.98G=
c.2421G=
c.20G=
c.3394G= (p.Val1132=)
c.2929G= (p.Val977=)
18g.23535603C>GCA401791407NPC1c.3343G>C (p.Val1115Leu)
c.98G>C
n.98G>C
c.2421G>C
c.20G>C
c.3394G>C (p.Val1132Leu)
c.2929G>C (p.Val977Leu)
18g.23535603C>TCA8912793NPC1c.3343G>A (p.Val1115Ile)
c.98G>A
n.98G>A
c.2421G>A
c.20G>A
c.3394G>A (p.Val1132Ile)
c.2929G>A (p.Val977Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23535604C>ACA401791409NPC1c.3342G>T (p.Met1114Ile)
c.97G>T
n.97G>T
c.2420G>T
c.19G>T
c.3393G>T (p.Met1131Ile)
c.2928G>T (p.Met976Ile)
18g.23535604C=CA2290163909NPC1c.3342G= (p.Met1114=)
c.97G=
n.97G=
c.2420G=
c.19G=
c.3393G= (p.Met1131=)
c.2928G= (p.Met976=)
18g.23535604C>GCA401791408NPC1c.3342G>C (p.Met1114Ile)
c.97G>C
n.97G>C
c.2420G>C
c.19G>C
c.3393G>C (p.Met1131Ile)
c.2928G>C (p.Met976Ile)
18g.23535604C>TCA8912794NPC1c.3342G>A (p.Met1114Ile)
c.97G>A
n.97G>A
c.2420G>A
c.19G>A
c.3393G>A (p.Met1131Ile)
c.2928G>A (p.Met976Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23535605A>CCA401791410NPC1c.3341T>G (p.Met1114Arg)
c.96T>G
n.96T>G
c.2419T>G
c.18T>G
c.3392T>G (p.Met1131Arg)
c.2927T>G (p.Met976Arg)
18g.23535605A>GCA401791411NPC1c.3341T>C (p.Met1114Thr)
c.96T>C
n.96T>C
c.2419T>C
c.18T>C
c.3392T>C (p.Met1131Thr)
c.2927T>C (p.Met976Thr)
 gnomAD v4
18g.23535605A>TCA401791412NPC1c.3341T>A (p.Met1114Lys)
c.96T>A
n.96T>A
c.2419T>A
c.18T>A
c.3392T>A (p.Met1131Lys)
c.2927T>A (p.Met976Lys)
18g.23535606T>ACA401791415NPC1c.3340A>T (p.Met1114Leu)
c.95A>T
n.95A>T
c.2418A>T
c.17A>T
c.3391A>T (p.Met1131Leu)
c.2926A>T (p.Met976Leu)
18g.23535606T>CCA401791414NPC1c.3340A>G (p.Met1114Val)
c.95A>G
n.95A>G
c.2418A>G
c.17A>G
c.3391A>G (p.Met1131Val)
c.2926A>G (p.Met976Val)
 ClinVar dbSNP gnomAD v4
18g.23535606T>GCA401791413NPC1c.3340A>C (p.Met1114Leu)
c.95A>C
n.95A>C
c.2418A>C
c.17A>C
c.3391A>C (p.Met1131Leu)
c.2926A>C (p.Met976Leu)
18g.23535606T=CA2290163910NPC1c.3340A= (p.Met1114=)
c.95A=
n.95A=
c.2418A=
c.17A=
c.3391A= (p.Met1131=)
c.2926A= (p.Met976=)
18g.23535607G>ACA503521724NPC1c.3339C>T (p.Thr1113=)
c.94C>T
n.94C>T
c.2417C>T
c.16C>T
c.3390C>T (p.Thr1130=)
c.2925C>T (p.Thr975=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.23535607G>CCA503521725NPC1c.3339C>G (p.Thr1113=)
c.94C>G
n.94C>G
c.2417C>G
c.16C>G
c.3390C>G (p.Thr1130=)
c.2925C>G (p.Thr975=)
 dbSNP gnomAD v3 gnomAD v4
18g.23535607G=CA2290163911NPC1c.3339C= (p.Thr1113=)
c.94C=
n.94C=
c.2417C=
c.16C=
c.3390C= (p.Thr1130=)
c.2925C= (p.Thr975=)
18g.23535607G>TCA503521726NPC1c.3339C>A (p.Thr1113=)
c.94C>A
n.94C>A
c.2417C>A
c.16C>A
c.3390C>A (p.Thr1130=)
c.2925C>A (p.Thr975=)
18g.23535608G>ACA401791416NPC1c.3338C>T (p.Thr1113Ile)
c.93C>T
n.93C>T
c.2416C>T
c.15C>T
c.3389C>T (p.Thr1130Ile)
c.2924C>T (p.Thr975Ile)
 dbSNP
18g.23535608G>CCA401791417NPC1c.3338C>G (p.Thr1113Ser)
c.93C>G
n.93C>G
c.2416C>G
c.15C>G
c.3389C>G (p.Thr1130Ser)
c.2924C>G (p.Thr975Ser)
18g.23535608G=CA2290163912NPC1c.3338C= (p.Thr1113=)
c.93C=
n.93C=
c.2416C=
c.15C=
c.3389C= (p.Thr1130=)
c.2924C= (p.Thr975=)
18g.23535608G>TCA401791418NPC1c.3338C>A (p.Thr1113Asn)
c.93C>A
n.93C>A
c.2416C>A
c.15C>A
c.3389C>A (p.Thr1130Asn)
c.2924C>A (p.Thr975Asn)
18g.23535609T>ACA401791419NPC1c.3337A>T (p.Thr1113Ser)
c.92A>T
n.92A>T
c.2415A>T
c.14A>T
c.3388A>T (p.Thr1130Ser)
c.2923A>T (p.Thr975Ser)
18g.23535609T>CCA401791420NPC1c.3337A>G (p.Thr1113Ala)
c.92A>G
n.92A>G
c.2415A>G
c.14A>G
c.3388A>G (p.Thr1130Ala)
c.2923A>G (p.Thr975Ala)
18g.23535609T>GCA401791421NPC1c.3337A>C (p.Thr1113Pro)
c.92A>C
n.92A>C
c.2415A>C
c.14A>C
c.3388A>C (p.Thr1130Pro)
c.2923A>C (p.Thr975Pro)
18g.23535610C>ACA503521727NPC1c.3336G>T (p.Val1112=)
c.91G>T
n.91G>T
c.2414G>T
c.13G>T
c.3387G>T (p.Val1129=)
c.2922G>T (p.Val974=)
18g.23535610C>GCA503521728NPC1c.3336G>C (p.Val1112=)
c.91G>C
n.91G>C
c.2414G>C
c.13G>C
c.3387G>C (p.Val1129=)
c.2922G>C (p.Val974=)
18g.23535610C>TCA503521729NPC1c.3336G>A (p.Val1112=)
c.91G>A
n.91G>A
c.2414G>A
c.13G>A
c.3387G>A (p.Val1129=)
c.2922G>A (p.Val974=)
 ClinVar dbSNP
18g.23535611A>CCA401791422NPC1c.3335T>G (p.Val1112Gly)
c.90T>G
n.90T>G
c.2413T>G
c.12T>G
c.3386T>G (p.Val1129Gly)
c.2921T>G (p.Val974Gly)
18g.23535611A>GCA401791424NPC1c.3335T>C (p.Val1112Ala)
c.90T>C
n.90T>C
c.2413T>C
c.12T>C
c.3386T>C (p.Val1129Ala)
c.2921T>C (p.Val974Ala)
18g.23535611A>TCA401791423NPC1c.3335T>A (p.Val1112Glu)
c.90T>A
n.90T>A
c.2413T>A
c.12T>A
c.3386T>A (p.Val1129Glu)
c.2921T>A (p.Val974Glu)
18g.23535612C>ACA401791425NPC1c.3334G>T (p.Val1112Leu)
c.89G>T
n.89G>T
c.2412G>T
c.11G>T
c.3385G>T (p.Val1129Leu)
c.2920G>T (p.Val974Leu)
 gnomAD v4
18g.23535612C>GCA401791426NPC1c.3334G>C (p.Val1112Leu)
c.89G>C
n.89G>C
c.2412G>C
c.11G>C
c.3385G>C (p.Val1129Leu)
c.2920G>C (p.Val974Leu)
18g.23535612C>TCA401791427NPC1c.3334G>A (p.Val1112Met)
c.89G>A
n.89G>A
c.2412G>A
c.11G>A
c.3385G>A (p.Val1129Met)
c.2920G>A (p.Val974Met)
18g.23535613C>ACA503521731NPC1c.3333G>T (p.Leu1111=)
c.88G>T
n.88G>T
c.2411G>T
c.10G>T
c.3384G>T (p.Leu1128=)
c.2919G>T (p.Leu973=)
18g.23535613C>GCA503521732NPC1c.3333G>C (p.Leu1111=)
c.88G>C
n.88G>C
c.2411G>C
c.10G>C
c.3384G>C (p.Leu1128=)
c.2919G>C (p.Leu973=)
18g.23535613C>TCA503521730NPC1c.3333G>A (p.Leu1111=)
c.88G>A
n.88G>A
c.2411G>A
c.10G>A
c.3384G>A (p.Leu1128=)
c.2919G>A (p.Leu973=)
 gnomAD v4
18g.23535614A>CCA401791428NPC1c.3332T>G (p.Leu1111Arg)
c.87T>G
n.87T>G
c.2410T>G
c.9T>G
c.3383T>G (p.Leu1128Arg)
c.2918T>G (p.Leu973Arg)
18g.23535614A>GCA401791429NPC1c.3332T>C (p.Leu1111Pro)
c.87T>C
n.87T>C
c.2410T>C
c.9T>C
c.3383T>C (p.Leu1128Pro)
c.2918T>C (p.Leu973Pro)
18g.23535614A>TCA401791430NPC1c.3332T>A (p.Leu1111Gln)
c.87T>A
n.87T>A
c.2410T>A
c.9T>A
c.3383T>A (p.Leu1128Gln)
c.2918T>A (p.Leu973Gln)
18g.23535615G>ACA145962NPC1c.3331C>T (p.Leu1111=)
c.86C>T
n.86C>T
c.2409C>T
c.8C>T
c.3382C>T (p.Leu1128=)
c.2917C>T (p.Leu973=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23535615G>CCA401791431NPC1c.3331C>G (p.Leu1111Val)
c.86C>G
n.86C>G
c.2409C>G
c.8C>G
c.3382C>G (p.Leu1128Val)
c.2917C>G (p.Leu973Val)
18g.23535615G=CA2290163913NPC1c.3331C= (p.Leu1111=)
c.86C=
n.86C=
c.2409C=
c.8C=
c.3382C= (p.Leu1128=)
c.2917C= (p.Leu973=)
18g.23535615G>TCA401791432NPC1c.3331C>A (p.Leu1111Met)
c.86C>A
n.86C>A
c.2409C>A
c.8C>A
c.3382C>A (p.Leu1128Met)
c.2917C>A (p.Leu973Met)
 gnomAD v4
18g.23535616A>CCA401791433NPC1c.3330T>G (p.Phe1110Leu)
c.85T>G
n.85T>G
c.2408T>G
c.7T>G
c.3381T>G (p.Phe1127Leu)
c.2916T>G (p.Phe972Leu)
 dbSNP
18g.23535616A>GCA503521733NPC1c.3330T>C (p.Phe1110=)
c.85T>C
n.85T>C
c.2408T>C
c.7T>C
c.3381T>C (p.Phe1127=)
c.2916T>C (p.Phe972=)
18g.23535616A>TCA401791434NPC1c.3330T>A (p.Phe1110Leu)
c.85T>A
n.85T>A
c.2408T>A
c.7T>A
c.3381T>A (p.Phe1127Leu)
c.2916T>A (p.Phe972Leu)
18g.23535617A>CCA401791436NPC1c.3329T>G (p.Phe1110Cys)
c.84T>G
n.84T>G
c.2407T>G
c.6T>G
c.3380T>G (p.Phe1127Cys)
c.2915T>G (p.Phe972Cys)
18g.23535617A>GCA401791437NPC1c.3329T>C (p.Phe1110Ser)
c.84T>C
n.84T>C
c.2407T>C
c.6T>C
c.3380T>C (p.Phe1127Ser)
c.2915T>C (p.Phe972Ser)
18g.23535617A>TCA401791435NPC1c.3329T>A (p.Phe1110Tyr)
c.84T>A
n.84T>A
c.2407T>A
c.6T>A
c.3380T>A (p.Phe1127Tyr)
c.2915T>A (p.Phe972Tyr)
18g.23535618A=CA2290163914NPC1c.3328T= (p.Phe1110=)
c.83T=
n.83T=
c.2406T=
c.5T=
c.3379T= (p.Phe1127=)
c.2914T= (p.Phe972=)
18g.23535618A>CCA401791438NPC1c.3328T>G (p.Phe1110Val)
c.83T>G
n.83T>G
c.2406T>G
c.5T>G
c.3379T>G (p.Phe1127Val)
c.2914T>G (p.Phe972Val)
18g.23535618A>GCA8912795NPC1c.3328T>C (p.Phe1110Leu)
c.83T>C
n.83T>C
c.2406T>C
c.5T>C
c.3379T>C (p.Phe1127Leu)
c.2914T>C (p.Phe972Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.23535618A>TCA401791439NPC1c.3328T>A (p.Phe1110Ile)
c.83T>A
n.83T>A
c.2406T>A
c.5T>A
c.3379T>A (p.Phe1127Ile)
c.2914T>A (p.Phe972Ile)
18g.23535619T>ACA503521734NPC1c.3327A>T (p.Ile1109=)
c.82A>T
n.82A>T
c.2405A>T
c.4A>T
c.3378A>T (p.Ile1126=)
c.2913A>T (p.Ile971=)
18g.23535619T>CCA401791440NPC1c.3327A>G (p.Ile1109Met)
c.82A>G
n.82A>G
c.2405A>G
c.4A>G
c.3378A>G (p.Ile1126Met)
c.2913A>G (p.Ile971Met)
18g.23535619T>GCA503521735NPC1c.3327A>C (p.Ile1109=)
c.82A>C
n.82A>C
c.2405A>C
c.4A>C
c.3378A>C (p.Ile1126=)
c.2913A>C (p.Ile971=)
18g.23535620A>CCA401791441NPC1c.3326T>G (p.Ile1109Arg)
c.81T>G
n.81T>G
c.2404T>G
c.3T>G
c.3377T>G (p.Ile1126Arg)
c.2912T>G (p.Ile971Arg)
18g.23535620A>GCA401791442NPC1c.3326T>C (p.Ile1109Thr)
c.81T>C
n.81T>C
c.2404T>C
c.3T>C
c.3377T>C (p.Ile1126Thr)
c.2912T>C (p.Ile971Thr)
 gnomAD v4
18g.23535620A>TCA401791443NPC1c.3326T>A (p.Ile1109Lys)
c.81T>A
n.81T>A
c.2404T>A
c.3T>A
c.3377T>A (p.Ile1126Lys)
c.2912T>A (p.Ile971Lys)
18g.23535620_23535621delinsATCA2290163915NPC1c.3325_3326delinsAT (p.Ile1109=)
c.80_81delinsAT
n.80_81delinsAT
c.2403_2404delinsAT
c.2_3delinsAT
c.3376_3377delinsAT (p.Ile1126=)
c.2911_2912delinsAT (p.Ile971=)
18g.23535621delCA16041910NPC1c.3325del (p.Ile1109TyrfsTer4)
c.80del
n.80del
c.2403del
c.2del
c.3376del (p.Ile1126TyrfsTer4)
c.2911del (p.Ile971TyrfsTer4)
 ClinVar dbSNP
18g.23535621T>ACA401791444NPC1c.3325A>T (p.Ile1109Leu)
c.80A>T
n.80A>T
c.2403A>T
c.2A>T
c.3376A>T (p.Ile1126Leu)
c.2911A>T (p.Ile971Leu)
 gnomAD v4
18g.23535621T>CCA297079228NPC1c.3325A>G (p.Ile1109Val)
c.80A>G
n.80A>G
c.2403A>G
c.2A>G
c.3376A>G (p.Ile1126Val)
c.2911A>G (p.Ile971Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.23535621T>GCA401791445NPC1c.3325A>C (p.Ile1109Leu)
c.80A>C
n.80A>C
c.2403A>C
c.2A>C
c.3376A>C (p.Ile1126Leu)
c.2911A>C (p.Ile971Leu)
18g.23535621T=CA2290163916NPC1c.3325A= (p.Ile1109=)
c.80A=
n.80A=
c.2403A=
c.2A=
c.3376A= (p.Ile1126=)
c.2911A= (p.Ile971=)
18g.23535622C>ACA503521736NPC1c.3324G>T (p.Ala1108=)
c.79G>T
n.79G>T
c.2402G>T
c.1G>T
c.3375G>T (p.Ala1125=)
c.2910G>T (p.Ala970=)
 dbSNP gnomAD v2 gnomAD v4
18g.23535622C=CA2290163917NPC1c.3324G= (p.Ala1108=)
c.79G=
n.79G=
c.2402G=
c.1G=
c.3375G= (p.Ala1125=)
c.2910G= (p.Ala970=)
18g.23535622C>GCA503521737NPC1c.3324G>C (p.Ala1108=)
c.79G>C
n.79G>C
c.2402G>C
c.1G>C
c.3375G>C (p.Ala1125=)
c.2910G>C (p.Ala970=)
18g.23535622C>TCA8912796NPC1c.3324G>A (p.Ala1108=)
c.79G>A
n.79G>A
c.2402G>A
c.1G>A
c.3375G>A (p.Ala1125=)
c.2910G>A (p.Ala970=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23535623G>ACA8912797NPC1c.3323C>T (p.Ala1108Val)
c.78C>T
n.78C>T
c.2401C>T
c.3374C>T (p.Ala1125Val)
c.2909C>T (p.Ala970Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.23535623G>CCA401791446NPC1c.3323C>G (p.Ala1108Gly)
c.78C>G
n.78C>G
c.2401C>G
c.3374C>G (p.Ala1125Gly)
c.2909C>G (p.Ala970Gly)
18g.23535623G=CA2290163918NPC1c.3323C= (p.Ala1108=)
c.78C=
n.78C=
c.2401C=
c.3374C= (p.Ala1125=)
c.2909C= (p.Ala970=)
18g.23535623G>TCA401791447NPC1c.3323C>A (p.Ala1108Glu)
c.78C>A
n.78C>A
c.2401C>A
c.3374C>A (p.Ala1125Glu)
c.2909C>A (p.Ala970Glu)
18g.23535624C>ACA401791449NPC1c.3322G>T (p.Ala1108Ser)
c.77G>T
n.77G>T
c.2400G>T
c.3373G>T (p.Ala1125Ser)
c.2908G>T (p.Ala970Ser)
18g.23535624C=CA2290163919NPC1c.3322G= (p.Ala1108=)
c.77G=
n.77G=
c.2400G=
c.3373G= (p.Ala1125=)
c.2908G= (p.Ala970=)
18g.23535624C>GCA401791448NPC1c.3322G>C (p.Ala1108Pro)
c.77G>C
n.77G>C
c.2400G>C
c.3373G>C (p.Ala1125Pro)
c.2908G>C (p.Ala970Pro)
18g.23535624C>TCA8912798NPC1c.3322G>A (p.Ala1108Thr)
c.77G>A
n.77G>A
c.2400G>A
c.3373G>A (p.Ala1125Thr)
c.2908G>A (p.Ala970Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23535624dupCA2580095546NPC1c.3322dup (p.Ala1108GlyfsTer13)
c.77dup
n.77dup
c.2400dup
c.3373dup (p.Ala1125GlyfsTer13)
c.2908dup (p.Ala970GlyfsTer13)
 ClinVar dbSNP gnomAD v4
18g.23535625G>ACA8912800NPC1c.3321C>T (p.Gly1107=)
c.76C>T
n.76C>T
c.2399C>T
c.3372C>T (p.Gly1124=)
c.2907C>T (p.Gly969=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
18g.23535625G>CCA503521738NPC1c.3321C>G (p.Gly1107=)
c.76C>G
n.76C>G
c.2399C>G
c.3372C>G (p.Gly1124=)
c.2907C>G (p.Gly969=)
18g.23535625G=CA2290163920NPC1c.3321C= (p.Gly1107=)
c.76C=
n.76C=
c.2399C=
c.3372C= (p.Gly1124=)
c.2907C= (p.Gly969=)
18g.23535625G>TCA8912799NPC1c.3321C>A (p.Gly1107=)
c.76C>A
n.76C>A
c.2399C>A
c.3372C>A (p.Gly1124=)
c.2907C>A (p.Gly969=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23535626C>ACA401791450NPC1c.3320G>T (p.Gly1107Val)
c.75G>T
n.75G>T
c.2398G>T
c.3371G>T (p.Gly1124Val)
c.2906G>T (p.Gly969Val)
18g.23535626C>GCA401791451NPC1c.3320G>C (p.Gly1107Ala)
c.75G>C
n.75G>C
c.2398G>C
c.3371G>C (p.Gly1124Ala)
c.2906G>C (p.Gly969Ala)
18g.23535626C>TCA401791452NPC1c.3320G>A (p.Gly1107Asp)
c.75G>A
n.75G>A
c.2398G>A
c.3371G>A (p.Gly1124Asp)
c.2906G>A (p.Gly969Asp)
18g.23535628dupCA2573155192NPC1c.3320dup (p.Ala1108ArgfsTer13)
c.75dup
n.75dup
c.2398dup
c.3371dup (p.Ala1125ArgfsTer13)
c.2906dup (p.Ala970ArgfsTer13)
 ClinVar dbSNP
18g.23535627C>ACA401791453NPC1c.3319G>T (p.Gly1107Cys)
c.74G>T
n.74G>T
c.2397G>T
c.3370G>T (p.Gly1124Cys)
c.2905G>T (p.Gly969Cys)
18g.23535627C>GCA401791454NPC1c.3319G>C (p.Gly1107Arg)
c.74G>C
n.74G>C
c.2397G>C
c.3370G>C (p.Gly1124Arg)
c.2905G>C (p.Gly969Arg)
18g.23535627C>TCA401791455NPC1c.3319G>A (p.Gly1107Ser)
c.74G>A
n.74G>A
c.2397G>A
c.3370G>A (p.Gly1124Ser)
c.2905G>A (p.Gly969Ser)
 gnomAD v4
18g.23535628C>ACA503521739NPC1c.3318G>T (p.Leu1106=)
c.73G>T
n.73G>T
c.2396G>T
c.3369G>T (p.Leu1123=)
c.2904G>T (p.Leu968=)
18g.23535628C=CA2290163921NPC1c.3318G= (p.Leu1106=)
c.73G=
n.73G=
c.2396G=
c.3369G= (p.Leu1123=)
c.2904G= (p.Leu968=)
18g.23535628C>GCA503521740NPC1c.3318G>C (p.Leu1106=)
c.73G>C
n.73G>C
c.2396G>C
c.3369G>C (p.Leu1123=)
c.2904G>C (p.Leu968=)
18g.23535628C>TCA503521741NPC1c.3318G>A (p.Leu1106=)
c.73G>A
n.73G>A
c.2396G>A
c.3369G>A (p.Leu1123=)
c.2904G>A (p.Leu968=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.23535629A>CCA401791456NPC1c.3317T>G (p.Leu1106Arg)
c.72T>G
n.72T>G
c.2395T>G
c.3368T>G (p.Leu1123Arg)
c.2903T>G (p.Leu968Arg)
18g.23535629A>GCA401791457NPC1c.3317T>C (p.Leu1106Pro)
c.72T>C
n.72T>C
c.2395T>C
c.3368T>C (p.Leu1123Pro)
c.2903T>C (p.Leu968Pro)
18g.23535629A>TCA401791458NPC1c.3317T>A (p.Leu1106Gln)
c.72T>A
n.72T>A
c.2395T>A
c.3368T>A (p.Leu1123Gln)
c.2903T>A (p.Leu968Gln)
18g.23535630G>ACA503521742NPC1c.3316C>T (p.Leu1106=)
c.71C>T
n.71C>T
c.2394C>T
c.3367C>T (p.Leu1123=)
c.2902C>T (p.Leu968=)
18g.23535630G>CCA401791459NPC1c.3316C>G (p.Leu1106Val)
c.71C>G
n.71C>G
c.2394C>G
c.3367C>G (p.Leu1123Val)
c.2902C>G (p.Leu968Val)
 gnomAD v4
18g.23535630G>TCA401791460NPC1c.3316C>A (p.Leu1106Met)
c.71C>A
n.71C>A
c.2394C>A
c.3367C>A (p.Leu1123Met)
c.2902C>A (p.Leu968Met)
18g.23535631G>ACA503521743NPC1c.3315C>T (p.Ser1105=)
c.70C>T
n.70C>T
c.2393C>T
c.3366C>T (p.Ser1122=)
c.2901C>T (p.Ser967=)
 ClinVar dbSNP gnomAD v4
18g.23535631G>CCA503521744NPC1c.3315C>G (p.Ser1105=)
c.70C>G
n.70C>G
c.2393C>G
c.3366C>G (p.Ser1122=)
c.2901C>G (p.Ser967=)
18g.23535631G>TCA503521745NPC1c.3315C>A (p.Ser1105=)
c.70C>A
n.70C>A
c.2393C>A
c.3366C>A (p.Ser1122=)
c.2901C>A (p.Ser967=)
18g.23535632G>ACA401791462NPC1c.3314C>T (p.Ser1105Phe)
c.69C>T
n.69C>T
c.2392C>T
c.3365C>T (p.Ser1122Phe)
c.2900C>T (p.Ser967Phe)
 dbSNP
18g.23535632G>CCA401791463NPC1c.3314C>G (p.Ser1105Cys)
c.69C>G
n.69C>G
c.2392C>G
c.3365C>G (p.Ser1122Cys)
c.2900C>G (p.Ser967Cys)
18g.23535632G>TCA401791461NPC1c.3314C>A (p.Ser1105Tyr)
c.69C>A
n.69C>A
c.2392C>A
c.3365C>A (p.Ser1122Tyr)
c.2900C>A (p.Ser967Tyr)
 ClinVar
18g.23535633A>CCA401791464NPC1c.3313T>G (p.Ser1105Ala)
c.68T>G
n.68T>G
c.2391T>G
c.3364T>G (p.Ser1122Ala)
c.2899T>G (p.Ser967Ala)
18g.23535633A>GCA401791465NPC1c.3313T>C (p.Ser1105Pro)
c.68T>C
n.68T>C
c.2391T>C
c.3364T>C (p.Ser1122Pro)
c.2899T>C (p.Ser967Pro)
18g.23535633A>TCA401791466NPC1c.3313T>A (p.Ser1105Thr)
c.68T>A
n.68T>A
c.2391T>A
c.3364T>A (p.Ser1122Thr)
c.2899T>A (p.Ser967Thr)
18g.23535633_23535635delCA2641278434NPC1c.3311_3313del (p.Val1104_Ser1105delinsAla)
c.66_68del
n.66_68del
c.2389_2391del
c.3362_3364del (p.Val1121_Ser1122delinsAla)
c.2897_2899del (p.Val966_Ser967delinsAla)
 gnomAD v4
18g.23535634C>ACA503521746NPC1c.3312G>T (p.Val1104=)
c.67G>T
n.67G>T
c.2390G>T
c.3363G>T (p.Val1121=)
c.2898G>T (p.Val966=)
18g.23535634C=CA2290163922NPC1c.3312G= (p.Val1104=)
c.67G=
n.67G=
c.2390G=
c.3363G= (p.Val1121=)
c.2898G= (p.Val966=)
18g.23535634C>GCA503521747NPC1c.3312G>C (p.Val1104=)
c.67G>C
n.67G>C
c.2390G>C
c.3363G>C (p.Val1121=)
c.2898G>C (p.Val966=)
18g.23535634C>TCA8912801NPC1c.3312G>A (p.Val1104=)
c.67G>A
n.67G>A
c.2390G>A
c.3363G>A (p.Val1121=)
c.2898G>A (p.Val966=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23535635A>CCA401791467NPC1c.3311T>G (p.Val1104Gly)
c.66T>G
n.66T>G
c.2389T>G
c.3362T>G (p.Val1121Gly)
c.2897T>G (p.Val966Gly)
18g.23535635A>GCA401791468NPC1c.3311T>C (p.Val1104Ala)
c.66T>C
n.66T>C
c.2389T>C
c.3362T>C (p.Val1121Ala)
c.2897T>C (p.Val966Ala)
18g.23535635A>TCA401791469NPC1c.3311T>A (p.Val1104Glu)
c.66T>A
n.66T>A
c.2389T>A
c.3362T>A (p.Val1121Glu)
c.2897T>A (p.Val966Glu)
18g.23535636C>ACA401791470NPC1c.3310G>T (p.Val1104Leu)
c.65G>T
n.65G>T
c.2388G>T
c.3361G>T (p.Val1121Leu)
c.2896G>T (p.Val966Leu)
18g.23535636C=CA2290163923NPC1c.3310G= (p.Val1104=)
c.65G=
n.65G=
c.2388G=
c.3361G= (p.Val1121=)
c.2896G= (p.Val966=)
18g.23535636C>GCA401791471NPC1c.3310G>C (p.Val1104Leu)
c.65G>C
n.65G>C
c.2388G>C
c.3361G>C (p.Val1121Leu)
c.2896G>C (p.Val966Leu)
18g.23535636C>TCA401791472NPC1c.3310G>A (p.Val1104Met)
c.65G>A
n.65G>A
c.2388G>A
c.3361G>A (p.Val1121Met)
c.2896G>A (p.Val966Met)
18g.23535637A=CA2290163924NPC1c.3309T= (p.Gly1103=)
c.64T=
n.64T=
c.2387T=
c.3360T= (p.Gly1120=)
c.2895T= (p.Gly965=)
18g.23535637A>CCA503521748NPC1c.3309T>G (p.Gly1103=)
c.64T>G
n.64T>G
c.2387T>G
c.3360T>G (p.Gly1120=)
c.2895T>G (p.Gly965=)
18g.23535637A>GCA503521750NPC1c.3309T>C (p.Gly1103=)
c.64T>C
n.64T>C
c.2387T>C
c.3360T>C (p.Gly1120=)
c.2895T>C (p.Gly965=)
 dbSNP
18g.23535637A>TCA503521749NPC1c.3309T>A (p.Gly1103=)
c.64T>A
n.64T>A
c.2387T>A
c.3360T>A (p.Gly1120=)
c.2895T>A (p.Gly965=)
 ClinVar dbSNP
18g.23535637dupCA16041911NPC1c.3309dup (p.Val1104CysfsTer17)
c.64dup
n.64dup
c.2387dup
c.3360dup (p.Val1121CysfsTer17)
c.2895dup (p.Val966CysfsTer17)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23535638C>ACA401791475NPC1c.3308G>T (p.Gly1103Val)
c.63G>T
n.63G>T
c.2386G>T
c.3359G>T (p.Gly1120Val)
c.2894G>T (p.Gly965Val)
 gnomAD v4
18g.23535638C>GCA401791474NPC1c.3308G>C (p.Gly1103Ala)
c.63G>C
n.63G>C
c.2386G>C
c.3359G>C (p.Gly1120Ala)
c.2894G>C (p.Gly965Ala)
18g.23535638C>TCA401791473NPC1c.3308G>A (p.Gly1103Asp)
c.63G>A
n.63G>A
c.2386G>A
c.3359G>A (p.Gly1120Asp)
c.2894G>A (p.Gly965Asp)
 gnomAD v4
18g.23535639C>ACA401791476NPC1c.3307G>T (p.Gly1103Cys)
c.62G>T
n.62G>T
c.2385G>T
c.3358G>T (p.Gly1120Cys)
c.2893G>T (p.Gly965Cys)
 gnomAD v4
18g.23535639C=CA2290163925NPC1c.3307G= (p.Gly1103=)
c.62G=
n.62G=
c.2385G=
c.3358G= (p.Gly1120=)
c.2893G= (p.Gly965=)
18g.23535639C>GCA401791477NPC1c.3307G>C (p.Gly1103Arg)
c.62G>C
n.62G>C
c.2385G>C
c.3358G>C (p.Gly1120Arg)
c.2893G>C (p.Gly965Arg)
 dbSNP gnomAD v4
18g.23535639C>TCA401791478NPC1c.3307G>A (p.Gly1103Ser)
c.62G>A
n.62G>A
c.2385G>A
c.3358G>A (p.Gly1120Ser)
c.2893G>A (p.Gly965Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
18g.23535640G>ACA8912802NPC1c.3306C>T (p.Leu1102=)
c.61C>T
n.61C>T
c.2384C>T
c.3357C>T (p.Leu1119=)
c.2892C>T (p.Leu964=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23535640G>CCA503521751NPC1c.3306C>G (p.Leu1102=)
c.61C>G
n.61C>G
c.2384C>G
c.3357C>G (p.Leu1119=)
c.2892C>G (p.Leu964=)
18g.23535640G=CA2290163926NPC1c.3306C= (p.Leu1102=)
c.61C=
n.61C=
c.2384C=
c.3357C= (p.Leu1119=)
c.2892C= (p.Leu964=)
18g.23535640G>TCA503521752NPC1c.3306C>A (p.Leu1102=)
c.61C>A
n.61C>A
c.2384C>A
c.3357C>A (p.Leu1119=)
c.2892C>A (p.Leu964=)
18g.23535641A>CCA401791479NPC1c.3305T>G (p.Leu1102Arg)
c.60T>G
n.60T>G
c.2383T>G
c.3356T>G (p.Leu1119Arg)
c.2891T>G (p.Leu964Arg)
18g.23535641A>GCA401791480NPC1c.3305T>C (p.Leu1102Pro)
c.60T>C
n.60T>C
c.2383T>C
c.3356T>C (p.Leu1119Pro)
c.2891T>C (p.Leu964Pro)
18g.23535641A>TCA401791481NPC1c.3305T>A (p.Leu1102His)
c.60T>A
n.60T>A
c.2383T>A
c.3356T>A (p.Leu1119His)
c.2891T>A (p.Leu964His)
18g.23535642G>ACA401791482NPC1c.3304C>T (p.Leu1102Phe)
c.59C>T
n.59C>T
c.2382C>T
c.3355C>T (p.Leu1119Phe)
c.2890C>T (p.Leu964Phe)
 dbSNP gnomAD v2 gnomAD v4
18g.23535642G>CCA401791483NPC1c.3304C>G (p.Leu1102Val)
c.59C>G
n.59C>G
c.2382C>G
c.3355C>G (p.Leu1119Val)
c.2890C>G (p.Leu964Val)
18g.23535642G=CA2290163927NPC1c.3304C= (p.Leu1102=)
c.59C=
n.59C=
c.2382C=
c.3355C= (p.Leu1119=)
c.2890C= (p.Leu964=)
18g.23535642G>TCA401791484NPC1c.3304C>A (p.Leu1102Ile)
c.59C>A
n.59C>A
c.2382C>A
c.3355C>A (p.Leu1119Ile)
c.2890C>A (p.Leu964Ile)
18g.23535643G>ACA503521754NPC1c.3303C>T (p.Asn1101=)
c.58C>T
n.58C>T
c.2381C>T
c.3354C>T (p.Asn1118=)
c.2889C>T (p.Asn963=)
 dbSNP gnomAD v3 gnomAD v4
18g.23535643G>CCA401791485NPC1c.3303C>G (p.Asn1101Lys)
c.58C>G
n.58C>G
c.2381C>G
c.3354C>G (p.Asn1118Lys)
c.2889C>G (p.Asn963Lys)
18g.23535643G=CA2290163928NPC1c.3303C= (p.Asn1101=)
c.58C=
n.58C=
c.2381C=
c.3354C= (p.Asn1118=)
c.2889C= (p.Asn963=)
18g.23535643G>TCA401791486NPC1c.3303C>A (p.Asn1101Lys)
c.58C>A
n.58C>A
c.2381C>A
c.3354C>A (p.Asn1118Lys)
c.2889C>A (p.Asn963Lys)
18g.23535644T>ACA401791488NPC1c.3302A>T (p.Asn1101Ile)
c.57A>T
n.57A>T
c.2380A>T
c.3353A>T (p.Asn1118Ile)
c.2888A>T (p.Asn963Ile)
 gnomAD v4
18g.23535644T>CCA401791489NPC1c.3302A>G (p.Asn1101Ser)
c.57A>G
n.57A>G
c.2380A>G
c.3353A>G (p.Asn1118Ser)
c.2888A>G (p.Asn963Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23535644T>GCA401791487NPC1c.3302A>C (p.Asn1101Thr)
c.57A>C
n.57A>C
c.2380A>C
c.3353A>C (p.Asn1118Thr)
c.2888A>C (p.Asn963Thr)
18g.23535644T=CA2290163929NPC1c.3302A= (p.Asn1101=)
c.57A=
n.57A=
c.2380A=
c.3353A= (p.Asn1118=)
c.2888A= (p.Asn963=)
18g.23535645T>ACA401791492NPC1c.3301A>T (p.Asn1101Tyr)
c.56A>T
n.56A>T
c.2379A>T
c.3352A>T (p.Asn1118Tyr)
c.2887A>T (p.Asn963Tyr)
18g.23535645T>CCA401791490NPC1c.3301A>G (p.Asn1101Asp)
c.56A>G
n.56A>G
c.2379A>G
c.3352A>G (p.Asn1118Asp)
c.2887A>G (p.Asn963Asp)
18g.23535645T>GCA401791491NPC1c.3301A>C (p.Asn1101His)
c.56A>C
n.56A>C
c.2379A>C
c.3352A>C (p.Asn1118His)
c.2887A>C (p.Asn963His)
18g.23535646G>ACA503521758NPC1c.3300C>T (p.Phe1100=)
c.55C>T
n.55C>T
c.2378C>T
c.3351C>T (p.Phe1117=)
c.2886C>T (p.Phe962=)
 ClinVar dbSNP gnomAD v4
18g.23535646G>CCA401791493NPC1c.3300C>G (p.Phe1100Leu)
c.55C>G
n.55C>G
c.2378C>G
c.3351C>G (p.Phe1117Leu)
c.2886C>G (p.Phe962Leu)
18g.23535646G=CA2290163930NPC1c.3300C= (p.Phe1100=)
c.55C=
n.55C=
c.2378C=
c.3351C= (p.Phe1117=)
c.2886C= (p.Phe962=)
18g.23535646G>TCA401791494NPC1c.3300C>A (p.Phe1100Leu)
c.55C>A
n.55C>A
c.2378C>A
c.3351C>A (p.Phe1117Leu)
c.2886C>A (p.Phe962Leu)
18g.23535646_23535647dupCA2499225056NPC1c.3299_3300dup (p.Asn1101SerfsTer13)
c.54_55dup
n.54_55dup
c.2377_2378dup
c.3350_3351dup (p.Asn1118SerfsTer13)
c.2885_2886dup (p.Asn963SerfsTer13)
 ClinVar dbSNP
18g.23535647A>CCA401791495NPC1c.3299T>G (p.Phe1100Cys)
c.54T>G
n.54T>G
c.2377T>G
c.3350T>G (p.Phe1117Cys)
c.2885T>G (p.Phe962Cys)
18g.23535647A>GCA401791496NPC1c.3299T>C (p.Phe1100Ser)
c.54T>C
n.54T>C
c.2377T>C
c.3350T>C (p.Phe1117Ser)
c.2885T>C (p.Phe962Ser)
18g.23535647A>TCA401791497NPC1c.3299T>A (p.Phe1100Tyr)
c.54T>A
n.54T>A
c.2377T>A
c.3350T>A (p.Phe1117Tyr)
c.2885T>A (p.Phe962Tyr)
18g.23535648A>CCA401791498NPC1c.3298T>G (p.Phe1100Val)
c.53T>G
n.53T>G
c.2376T>G
c.3349T>G (p.Phe1117Val)
c.2884T>G (p.Phe962Val)
18g.23535648A>GCA401791499NPC1c.3298T>C (p.Phe1100Leu)
c.53T>C
n.53T>C
c.2376T>C
c.3349T>C (p.Phe1117Leu)
c.2884T>C (p.Phe962Leu)
18g.23535648A>TCA401791500NPC1c.3298T>A (p.Phe1100Ile)
c.53T>A
n.53T>A
c.2376T>A
c.3349T>A (p.Phe1117Ile)
c.2884T>A (p.Phe962Ile)
18g.23535649G>ACA503521759NPC1c.3297C>T (p.Ile1099=)
c.52C>T
n.52C>T
c.2375C>T
c.3348C>T (p.Ile1116=)
c.2883C>T (p.Ile961=)
 gnomAD v4
18g.23535649G>CCA401791501NPC1c.3297C>G (p.Ile1099Met)
c.52C>G
n.52C>G
c.2375C>G
c.3348C>G (p.Ile1116Met)
c.2883C>G (p.Ile961Met)
18g.23535649G=CA2290163931NPC1c.3297C= (p.Ile1099=)
c.52C=
n.52C=
c.2375C=
c.3348C= (p.Ile1116=)
c.2883C= (p.Ile961=)
18g.23535649G>TCA297079237NPC1c.3297C>A (p.Ile1099=)
c.52C>A
n.52C>A
c.2375C>A
c.3348C>A (p.Ile1116=)
c.2883C>A (p.Ile961=)
 ClinVar dbSNP gnomAD v4
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)

Number of alleles fetched