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.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)
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)

Number of alleles fetched