| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23532378_23536675del | CA913190465 | NPC1 | c.3243_3755-94del c.2321_2833-94del c.3294_3805+977del c.3294_3806-94del c.3243_3754+977del c.2829_3340+977del | ClinVar |
| 18 | g.23535494G>A | CA401791166 | NPC1 | c.3452C>T (p.Ala1151Val) c.207C>T n.207C>T c.2530C>T c.129C>T c.3503C>T (p.Ala1168Val) c.3038C>T (p.Ala1013Val) | |
| 18 | g.23535494G>C | CA401791167 | NPC1 | c.3452C>G (p.Ala1151Gly) c.207C>G n.207C>G c.2530C>G c.129C>G c.3503C>G (p.Ala1168Gly) c.3038C>G (p.Ala1013Gly) | |
| 18 | g.23535494G>T | CA401791168 | NPC1 | c.3452C>A (p.Ala1151Asp) c.207C>A n.207C>A c.2530C>A c.129C>A c.3503C>A (p.Ala1168Asp) c.3038C>A (p.Ala1013Asp) | |
| 18 | g.23535495C>A | CA401791169 | NPC1 | c.3451G>T (p.Ala1151Ser) c.206G>T n.206G>T c.2529G>T c.128G>T c.3502G>T (p.Ala1168Ser) c.3037G>T (p.Ala1013Ser) | ClinVar dbSNP gnomAD v4 |
| 18 | g.23535495C= | CA2290163855 | NPC1 | c.3451G= (p.Ala1151=) c.206G= n.206G= c.2529G= c.128G= c.3502G= (p.Ala1168=) c.3037G= (p.Ala1013=) | |
| 18 | g.23535495C>G | CA401791170 | NPC1 | c.3451G>C (p.Ala1151Pro) c.206G>C n.206G>C c.2529G>C c.128G>C c.3502G>C (p.Ala1168Pro) c.3037G>C (p.Ala1013Pro) | |
| 18 | g.23535495C>T | CA8912773 | NPC1 | c.3451G>A (p.Ala1151Thr) c.206G>A n.206G>A c.2529G>A c.128G>A c.3502G>A (p.Ala1168Thr) c.3037G>A (p.Ala1013Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.23535496G>A | CA8912774 | NPC1 | c.3450C>T (p.Asn1150=) c.205C>T n.205C>T c.2528C>T c.127C>T c.3501C>T (p.Asn1167=) c.3036C>T (p.Asn1012=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23535496G>C | CA401791171 | NPC1 | c.3450C>G (p.Asn1150Lys) c.205C>G n.205C>G c.2528C>G c.127C>G c.3501C>G (p.Asn1167Lys) c.3036C>G (p.Asn1012Lys) | |
| 18 | g.23535496G= | CA2290163856 | NPC1 | c.3450C= (p.Asn1150=) c.205C= n.205C= c.2528C= c.127C= c.3501C= (p.Asn1167=) c.3036C= (p.Asn1012=) | |
| 18 | g.23535496G>T | CA297079142 | NPC1 | c.3450C>A (p.Asn1150Lys) c.205C>A n.205C>A c.2528C>A c.127C>A c.3501C>A (p.Asn1167Lys) c.3036C>A (p.Asn1012Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23535497T>A | CA401791174 | NPC1 | c.3449A>T (p.Asn1150Ile) c.204A>T n.204A>T c.2527A>T c.126A>T c.3500A>T (p.Asn1167Ile) c.3035A>T (p.Asn1012Ile) | |
| 18 | g.23535497T>C | CA401791173 | NPC1 | c.3449A>G (p.Asn1150Ser) c.204A>G n.204A>G c.2527A>G c.126A>G c.3500A>G (p.Asn1167Ser) c.3035A>G (p.Asn1012Ser) | |
| 18 | g.23535497T>G | CA401791172 | NPC1 | c.3449A>C (p.Asn1150Thr) c.204A>C n.204A>C c.2527A>C c.126A>C c.3500A>C (p.Asn1167Thr) c.3035A>C (p.Asn1012Thr) | |
| 18 | g.23535498T>A | CA401791177 | NPC1 | c.3448A>T (p.Asn1150Tyr) c.203A>T n.203A>T c.2526A>T c.125A>T c.3499A>T (p.Asn1167Tyr) c.3034A>T (p.Asn1012Tyr) | |
| 18 | g.23535498T>C | CA401791175 | NPC1 | c.3448A>G (p.Asn1150Asp) c.203A>G n.203A>G c.2526A>G c.125A>G c.3499A>G (p.Asn1167Asp) c.3034A>G (p.Asn1012Asp) | |
| 18 | g.23535498T>G | CA401791176 | NPC1 | c.3448A>C (p.Asn1150His) c.203A>C n.203A>C c.2526A>C c.125A>C c.3499A>C (p.Asn1167His) c.3034A>C (p.Asn1012His) | |
| 18 | g.23535499C>A | CA503521663 | NPC1 | c.3447G>T (p.Leu1149=) c.202G>T n.202G>T c.2525G>T c.124G>T c.3498G>T (p.Leu1166=) c.3033G>T (p.Leu1011=) | |
| 18 | g.23535499C= | CA2290163857 | NPC1 | c.3447G= (p.Leu1149=) c.202G= n.202G= c.2525G= c.124G= c.3498G= (p.Leu1166=) c.3033G= (p.Leu1011=) | |
| 18 | g.23535499C>G | CA503521664 | NPC1 | c.3447G>C (p.Leu1149=) c.202G>C n.202G>C c.2525G>C c.124G>C c.3498G>C (p.Leu1166=) c.3033G>C (p.Leu1011=) | |
| 18 | g.23535499C>T | CA8912775 | NPC1 | c.3447G>A (p.Leu1149=) c.202G>A n.202G>A c.2525G>A c.124G>A c.3498G>A (p.Leu1166=) c.3033G>A (p.Leu1011=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23535500A>C | CA401791178 | NPC1 | c.3446T>G (p.Leu1149Arg) c.201T>G n.201T>G c.2524T>G c.123T>G c.3497T>G (p.Leu1166Arg) c.3032T>G (p.Leu1011Arg) | |
| 18 | g.23535500A>G | CA401791179 | NPC1 | c.3446T>C (p.Leu1149Pro) c.201T>C n.201T>C c.2524T>C c.123T>C c.3497T>C (p.Leu1166Pro) c.3032T>C (p.Leu1011Pro) | |
| 18 | g.23535500A>T | CA401791180 | NPC1 | c.3446T>A (p.Leu1149Gln) c.201T>A n.201T>A c.2524T>A c.123T>A c.3497T>A (p.Leu1166Gln) c.3032T>A (p.Leu1011Gln) | |
| 18 | g.23535501G>A | CA503521665 | NPC1 | c.3445C>T (p.Leu1149=) c.200C>T n.200C>T c.2523C>T c.122C>T c.3496C>T (p.Leu1166=) c.3031C>T (p.Leu1011=) | ClinVar |
| 18 | g.23535501G>C | CA401791181 | NPC1 | c.3445C>G (p.Leu1149Val) c.200C>G n.200C>G c.2523C>G c.122C>G c.3496C>G (p.Leu1166Val) c.3031C>G (p.Leu1011Val) | |
| 18 | g.23535501G>T | CA401791182 | NPC1 | c.3445C>A (p.Leu1149Met) c.200C>A n.200C>A c.2523C>A c.122C>A c.3496C>A (p.Leu1166Met) c.3031C>A (p.Leu1011Met) | |
| 18 | g.23535502A= | CA2290163858 | NPC1 | c.3444T= (p.Ser1148=) c.199T= n.199T= c.2522T= c.121T= c.3495T= (p.Ser1165=) c.3030T= (p.Ser1010=) | |
| 18 | g.23535502A>C | CA8912776 | NPC1 | c.3444T>G (p.Ser1148Arg) c.199T>G n.199T>G c.2522T>G c.121T>G c.3495T>G (p.Ser1165Arg) c.3030T>G (p.Ser1010Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23535502A>G | CA503521666 | NPC1 | c.3444T>C (p.Ser1148=) c.199T>C n.199T>C c.2522T>C c.121T>C c.3495T>C (p.Ser1165=) c.3030T>C (p.Ser1010=) | |
| 18 | g.23535502A>T | CA401791183 | NPC1 | c.3444T>A (p.Ser1148Arg) c.199T>A n.199T>A c.2522T>A c.121T>A c.3495T>A (p.Ser1165Arg) c.3030T>A (p.Ser1010Arg) | |
| 18 | g.23535503C>A | CA401791184 | NPC1 | c.3443G>T (p.Ser1148Ile) c.198G>T n.198G>T c.2521G>T c.120G>T c.3494G>T (p.Ser1165Ile) c.3029G>T (p.Ser1010Ile) | |
| 18 | g.23535503C>G | CA401791185 | NPC1 | c.3443G>C (p.Ser1148Thr) c.198G>C n.198G>C c.2521G>C c.120G>C c.3494G>C (p.Ser1165Thr) c.3029G>C (p.Ser1010Thr) | |
| 18 | g.23535503C>T | CA401791186 | NPC1 | c.3443G>A (p.Ser1148Asn) c.198G>A n.198G>A c.2521G>A c.120G>A c.3494G>A (p.Ser1165Asn) c.3029G>A (p.Ser1010Asn) | |
| 18 | g.23535504T>A | CA401791189 | NPC1 | c.3442A>T (p.Ser1148Cys) c.197A>T n.197A>T c.2520A>T c.119A>T c.3493A>T (p.Ser1165Cys) c.3028A>T (p.Ser1010Cys) | |
| 18 | g.23535504T>C | CA401791187 | NPC1 | c.3442A>G (p.Ser1148Gly) c.197A>G n.197A>G c.2520A>G c.119A>G c.3493A>G (p.Ser1165Gly) c.3028A>G (p.Ser1010Gly) | |
| 18 | g.23535504T>G | CA401791188 | NPC1 | c.3442A>C (p.Ser1148Arg) c.197A>C n.197A>C c.2520A>C c.119A>C c.3493A>C (p.Ser1165Arg) c.3028A>C (p.Ser1010Arg) | |
| 18 | g.23535505G>A | CA8912777 | NPC1 | c.3441C>T (p.Ile1147=) c.196C>T n.196C>T c.2519C>T c.118C>T c.3492C>T (p.Ile1164=) c.3027C>T (p.Ile1009=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23535505G>C | CA401791190 | NPC1 | c.3441C>G (p.Ile1147Met) c.196C>G n.196C>G c.2519C>G c.118C>G c.3492C>G (p.Ile1164Met) c.3027C>G (p.Ile1009Met) | |
| 18 | g.23535505G= | CA2290163859 | NPC1 | c.3441C= (p.Ile1147=) c.196C= n.196C= c.2519C= c.118C= c.3492C= (p.Ile1164=) c.3027C= (p.Ile1009=) | |
| 18 | g.23535505G>T | CA503521667 | NPC1 | c.3441C>A (p.Ile1147=) c.196C>A n.196C>A c.2519C>A c.118C>A c.3492C>A (p.Ile1164=) c.3027C>A (p.Ile1009=) | |
| 18 | g.23535506A= | CA2290163860 | NPC1 | c.3440T= (p.Ile1147=) c.195T= n.195T= c.2518T= c.117T= c.3491T= (p.Ile1164=) c.3026T= (p.Ile1009=) | |
| 18 | g.23535506A>C | CA401791191 | NPC1 | c.3440T>G (p.Ile1147Ser) c.195T>G n.195T>G c.2518T>G c.117T>G c.3491T>G (p.Ile1164Ser) c.3026T>G (p.Ile1009Ser) | |
| 18 | g.23535506A>G | CA401791192 | NPC1 | c.3440T>C (p.Ile1147Thr) c.195T>C n.195T>C c.2518T>C c.117T>C c.3491T>C (p.Ile1164Thr) c.3026T>C (p.Ile1009Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23535506A>T | CA401791193 | NPC1 | c.3440T>A (p.Ile1147Asn) c.195T>A n.195T>A c.2518T>A c.117T>A c.3491T>A (p.Ile1164Asn) c.3026T>A (p.Ile1009Asn) | |
| 18 | g.23535507T>A | CA401791194 | NPC1 | c.3439A>T (p.Ile1147Phe) c.194A>T n.194A>T c.2517A>T c.116A>T c.3490A>T (p.Ile1164Phe) c.3025A>T (p.Ile1009Phe) | |
| 18 | g.23535507T>C | CA401791195 | NPC1 | c.3439A>G (p.Ile1147Val) c.194A>G n.194A>G c.2517A>G c.116A>G c.3490A>G (p.Ile1164Val) c.3025A>G (p.Ile1009Val) | |
| 18 | g.23535507T>G | CA401791196 | NPC1 | c.3439A>C (p.Ile1147Leu) c.194A>C n.194A>C c.2517A>C c.116A>C c.3490A>C (p.Ile1164Leu) c.3025A>C (p.Ile1009Leu) | |
| 18 | g.23535508G>A | CA8912778 | NPC1 | c.3438C>T (p.Gly1146=) c.193C>T n.193C>T c.2516C>T c.115C>T c.3489C>T (p.Gly1163=) c.3024C>T (p.Gly1008=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23535508G>C | CA503521668 | NPC1 | c.3438C>G (p.Gly1146=) c.193C>G n.193C>G c.2516C>G c.115C>G c.3489C>G (p.Gly1163=) c.3024C>G (p.Gly1008=) | |
| 18 | g.23535508G= | CA2290163861 | NPC1 | c.3438C= (p.Gly1146=) c.193C= n.193C= c.2516C= c.115C= c.3489C= (p.Gly1163=) c.3024C= (p.Gly1008=) | |
| 18 | g.23535508G>T | CA503521669 | NPC1 | c.3438C>A (p.Gly1146=) c.193C>A n.193C>A c.2516C>A c.115C>A c.3489C>A (p.Gly1163=) c.3024C>A (p.Gly1008=) | |
| 18 | g.23535509C>A | CA401791197 | NPC1 | c.3437G>T (p.Gly1146Val) c.192G>T n.192G>T c.2515G>T c.114G>T c.3488G>T (p.Gly1163Val) c.3023G>T (p.Gly1008Val) | |
| 18 | g.23535509C= | CA2290163862 | NPC1 | c.3437G= (p.Gly1146=) c.192G= n.192G= c.2515G= c.114G= c.3488G= (p.Gly1163=) c.3023G= (p.Gly1008=) | |
| 18 | g.23535509C>G | CA401791198 | NPC1 | c.3437G>C (p.Gly1146Ala) c.192G>C n.192G>C c.2515G>C c.114G>C c.3488G>C (p.Gly1163Ala) c.3023G>C (p.Gly1008Ala) | |
| 18 | g.23535509C>T | CA401791199 | NPC1 | c.3437G>A (p.Gly1146Asp) c.192G>A n.192G>A c.2515G>A c.114G>A c.3488G>A (p.Gly1163Asp) c.3023G>A (p.Gly1008Asp) | dbSNP |
| 18 | g.23535510C>A | CA401791200 | NPC1 | c.3436G>T (p.Gly1146Cys) c.191G>T n.191G>T c.2514G>T c.113G>T c.3487G>T (p.Gly1163Cys) c.3022G>T (p.Gly1008Cys) | |
| 18 | g.23535510C= | CA2290163863 | NPC1 | c.3436G= (p.Gly1146=) c.191G= n.191G= c.2514G= c.113G= c.3487G= (p.Gly1163=) c.3022G= (p.Gly1008=) | |
| 18 | g.23535510C>G | CA401791201 | NPC1 | c.3436G>C (p.Gly1146Arg) c.191G>C n.191G>C c.2514G>C c.113G>C c.3487G>C (p.Gly1163Arg) c.3022G>C (p.Gly1008Arg) | gnomAD v4 |
| 18 | g.23535510C>T | CA8912779 | NPC1 | c.3436G>A (p.Gly1146Ser) c.191G>A n.191G>A c.2514G>A c.113G>A c.3487G>A (p.Gly1163Ser) c.3022G>A (p.Gly1008Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23535511C>A | CA401791202 | NPC1 | c.3435G>T (p.Trp1145Cys) c.190G>T n.190G>T c.2513G>T c.112G>T c.3486G>T (p.Trp1162Cys) c.3021G>T (p.Trp1007Cys) | |
| 18 | g.23535511C= | CA2290163864 | NPC1 | c.3435G= (p.Trp1145=) c.190G= n.190G= c.2513G= c.112G= c.3486G= (p.Trp1162=) c.3021G= (p.Trp1007=) | |
| 18 | g.23535511C>G | CA401791203 | NPC1 | c.3435G>C (p.Trp1145Cys) c.190G>C n.190G>C c.2513G>C c.112G>C c.3486G>C (p.Trp1162Cys) c.3021G>C (p.Trp1007Cys) | ClinVar gnomAD v4 |
| 18 | g.23535511C>T | CA8912780 | NPC1 | c.3435G>A (p.Trp1145Ter) c.190G>A n.190G>A c.2513G>A c.112G>A c.3486G>A (p.Trp1162Ter) c.3021G>A (p.Trp1007Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23535512C>A | CA401791204 | NPC1 | c.3434G>T (p.Trp1145Leu) c.189G>T n.189G>T c.2512G>T c.111G>T c.3485G>T (p.Trp1162Leu) c.3020G>T (p.Trp1007Leu) | |
| 18 | g.23535512C>G | CA401791205 | NPC1 | c.3434G>C (p.Trp1145Ser) c.189G>C n.189G>C c.2512G>C c.111G>C c.3485G>C (p.Trp1162Ser) c.3020G>C (p.Trp1007Ser) | |
| 18 | g.23535512C>T | CA401791206 | NPC1 | c.3434G>A (p.Trp1145Ter) c.189G>A n.189G>A c.2512G>A c.111G>A c.3485G>A (p.Trp1162Ter) c.3020G>A (p.Trp1007Ter) | |
| 18 | g.23535513A>C | CA401791209 | NPC1 | c.3433T>G (p.Trp1145Gly) c.188T>G n.188T>G c.2511T>G c.110T>G c.3484T>G (p.Trp1162Gly) c.3019T>G (p.Trp1007Gly) | |
| 18 | g.23535513A>G | CA401791208 | NPC1 | c.3433T>C (p.Trp1145Arg) c.188T>C n.188T>C c.2511T>C c.110T>C c.3484T>C (p.Trp1162Arg) c.3019T>C (p.Trp1007Arg) | ClinVar dbSNP |
| 18 | g.23535513A>T | CA401791207 | NPC1 | c.3433T>A (p.Trp1145Arg) c.188T>A n.188T>A c.2511T>A c.110T>A c.3484T>A (p.Trp1162Arg) c.3019T>A (p.Trp1007Arg) | |
| 18 | g.23535514G>A | CA503521670 | NPC1 | c.3432C>T (p.Leu1144=) c.187C>T n.187C>T c.2510C>T c.109C>T c.3483C>T (p.Leu1161=) c.3018C>T (p.Leu1006=) | ClinVar dbSNP |
| 18 | g.23535514G>C | CA8912781 | NPC1 | c.3432C>G (p.Leu1144=) c.187C>G n.187C>G c.2510C>G c.109C>G c.3483C>G (p.Leu1161=) c.3018C>G (p.Leu1006=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23535514G= | CA2290163865 | NPC1 | c.3432C= (p.Leu1144=) c.187C= n.187C= c.2510C= c.109C= c.3483C= (p.Leu1161=) c.3018C= (p.Leu1006=) | |
| 18 | g.23535514G>T | CA503521671 | NPC1 | c.3432C>A (p.Leu1144=) c.187C>A n.187C>A c.2510C>A c.109C>A c.3483C>A (p.Leu1161=) c.3018C>A (p.Leu1006=) | |
| 18 | g.23535515A>C | CA401791210 | NPC1 | c.3431T>G (p.Leu1144Arg) c.186T>G n.186T>G c.2509T>G c.108T>G c.3482T>G (p.Leu1161Arg) c.3017T>G (p.Leu1006Arg) | |
| 18 | g.23535515A>G | CA401791211 | NPC1 | c.3431T>C (p.Leu1144Pro) c.186T>C n.186T>C c.2509T>C c.108T>C c.3482T>C (p.Leu1161Pro) c.3017T>C (p.Leu1006Pro) | |
| 18 | g.23535515A>T | CA401791212 | NPC1 | c.3431T>A (p.Leu1144His) c.186T>A n.186T>A c.2509T>A c.108T>A c.3482T>A (p.Leu1161His) c.3017T>A (p.Leu1006His) | |
| 18 | g.23535516G>A | CA401791213 | NPC1 | c.3430C>T (p.Leu1144Phe) c.185C>T n.185C>T c.2508C>T c.107C>T c.3481C>T (p.Leu1161Phe) c.3016C>T (p.Leu1006Phe) | dbSNP |
| 18 | g.23535516G>C | CA401791214 | NPC1 | c.3430C>G (p.Leu1144Val) c.185C>G n.185C>G c.2508C>G c.107C>G c.3481C>G (p.Leu1161Val) c.3016C>G (p.Leu1006Val) | |
| 18 | g.23535516G= | CA2290163866 | NPC1 | c.3430C= (p.Leu1144=) c.185C= n.185C= c.2508C= c.107C= c.3481C= (p.Leu1161=) c.3016C= (p.Leu1006=) | |
| 18 | g.23535516G>T | CA401791215 | NPC1 | c.3430C>A (p.Leu1144Ile) c.185C>A n.185C>A c.2508C>A c.107C>A c.3481C>A (p.Leu1161Ile) c.3016C>A (p.Leu1006Ile) | |
| 18 | g.23535517C>A | CA401791216 | NPC1 | c.3429G>T (p.Trp1143Cys) c.184G>T n.184G>T c.2507G>T c.106G>T c.3480G>T (p.Trp1160Cys) c.3015G>T (p.Trp1005Cys) | |
| 18 | g.23535517C>G | CA401791218 | NPC1 | c.3429G>C (p.Trp1143Cys) c.184G>C n.184G>C c.2507G>C c.106G>C c.3480G>C (p.Trp1160Cys) c.3015G>C (p.Trp1005Cys) | |
| 18 | g.23535517C>T | CA401791217 | NPC1 | c.3429G>A (p.Trp1143Ter) c.184G>A n.184G>A c.2507G>A c.106G>A c.3480G>A (p.Trp1160Ter) c.3015G>A (p.Trp1005Ter) | |
| 18 | g.23535518C>A | CA401791219 | NPC1 | c.3428G>T (p.Trp1143Leu) c.183G>T n.183G>T c.2506G>T c.105G>T c.3479G>T (p.Trp1160Leu) c.3014G>T (p.Trp1005Leu) | |
| 18 | g.23535518C>G | CA401791220 | NPC1 | c.3428G>C (p.Trp1143Ser) c.183G>C n.183G>C c.2506G>C c.105G>C c.3479G>C (p.Trp1160Ser) c.3014G>C (p.Trp1005Ser) | |
| 18 | g.23535518C>T | CA401791221 | NPC1 | c.3428G>A (p.Trp1143Ter) c.183G>A n.183G>A c.2506G>A c.105G>A c.3479G>A (p.Trp1160Ter) c.3014G>A (p.Trp1005Ter) | |
| 18 | g.23535519A>C | CA401791222 | NPC1 | c.3427T>G (p.Trp1143Gly) c.182T>G n.182T>G c.2505T>G c.104T>G c.3478T>G (p.Trp1160Gly) c.3013T>G (p.Trp1005Gly) | |
| 18 | g.23535519A>G | CA401791223 | NPC1 | c.3427T>C (p.Trp1143Arg) c.182T>C n.182T>C c.2505T>C c.104T>C c.3478T>C (p.Trp1160Arg) c.3013T>C (p.Trp1005Arg) | |
| 18 | g.23535519A>T | CA401791224 | NPC1 | c.3427T>A (p.Trp1143Arg) c.182T>A n.182T>A c.2505T>A c.104T>A c.3478T>A (p.Trp1160Arg) c.3013T>A (p.Trp1005Arg) | |
| 18 | g.23535520C>A | CA401791225 | NPC1 | c.3426G>T (p.Met1142Ile) c.181G>T n.181G>T c.2504G>T c.103G>T c.3477G>T (p.Met1159Ile) c.3012G>T (p.Met1004Ile) | |
| 18 | g.23535520C= | CA2290163867 | NPC1 | c.3426G= (p.Met1142=) c.181G= n.181G= c.2504G= c.103G= c.3477G= (p.Met1159=) c.3012G= (p.Met1004=) | |
| 18 | g.23535520C>G | CA401791226 | NPC1 | c.3426G>C (p.Met1142Ile) c.181G>C n.181G>C c.2504G>C c.103G>C c.3477G>C (p.Met1159Ile) c.3012G>C (p.Met1004Ile) | |
| 18 | g.23535520C>T | CA401791227 | NPC1 | c.3426G>A (p.Met1142Ile) c.181G>A n.181G>A c.2504G>A c.103G>A c.3477G>A (p.Met1159Ile) c.3012G>A (p.Met1004Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.23535521A= | CA2290163868 | NPC1 | c.3425T= (p.Met1142=) c.180T= n.180T= c.2503T= c.102T= c.3476T= (p.Met1159=) c.3011T= (p.Met1004=) | |
| 18 | g.23535521A>C | CA401791228 | NPC1 | c.3425T>G (p.Met1142Arg) c.180T>G n.180T>G c.2503T>G c.102T>G c.3476T>G (p.Met1159Arg) c.3011T>G (p.Met1004Arg) | |
| 18 | g.23535521A>G | CA8912782 | NPC1 | c.3425T>C (p.Met1142Thr) c.180T>C n.180T>C c.2503T>C c.102T>C c.3476T>C (p.Met1159Thr) c.3011T>C (p.Met1004Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23535521A>T | CA401791229 | NPC1 | c.3425T>A (p.Met1142Lys) c.180T>A n.180T>A c.2503T>A c.102T>A c.3476T>A (p.Met1159Lys) c.3011T>A (p.Met1004Lys) | |
| 18 | g.23535522T>A | CA401791230 | NPC1 | c.3424A>T (p.Met1142Leu) c.179A>T n.179A>T c.2502A>T c.101A>T c.3475A>T (p.Met1159Leu) c.3010A>T (p.Met1004Leu) | gnomAD v4 |
| 18 | g.23535522T>C | CA401791232 | NPC1 | c.3424A>G (p.Met1142Val) c.179A>G n.179A>G c.2502A>G c.101A>G c.3475A>G (p.Met1159Val) c.3010A>G (p.Met1004Val) | |
| 18 | g.23535522T>G | CA401791231 | NPC1 | c.3424A>C (p.Met1142Leu) c.179A>C n.179A>C c.2502A>C c.101A>C c.3475A>C (p.Met1159Leu) c.3010A>C (p.Met1004Leu) | |
| 18 | g.23535522_23535529delinsTAACTCCA | CA2290163869 | NPC1 | c.3417_3424delinsTGGAGTTA (p.Phe1139=) c.172_179delinsTGGAGTTA n.172_179delinsTGGAGTTA c.2495_2502delinsTGGAGTTA c.94_101delinsTGGAGTTA c.3468_3475delinsTGGAGTTA (p.Phe1156=) c.3003_3010delinsTGGAGTTA (p.Phe1001=) | |
| 18 | g.23535523A>C | CA503521672 | NPC1 | c.3423T>G (p.Val1141=) c.178T>G n.178T>G c.2501T>G c.100T>G c.3474T>G (p.Val1158=) c.3009T>G (p.Val1003=) | ClinVar dbSNP |
| 18 | g.23535523A>G | CA503521673 | NPC1 | c.3423T>C (p.Val1141=) c.178T>C n.178T>C c.2501T>C c.100T>C c.3474T>C (p.Val1158=) c.3009T>C (p.Val1003=) | gnomAD v4 |
| 18 | g.23535523A>T | CA503521674 | NPC1 | c.3423T>A (p.Val1141=) c.178T>A n.178T>A c.2501T>A c.100T>A c.3474T>A (p.Val1158=) c.3009T>A (p.Val1003=) | |
| 18 | g.23535526_23535532del | CA16041909 | NPC1 | c.3417_3423del (p.Phe1139LeufsTer9) c.172_178del n.172_178del c.2495_2501del c.94_100del c.3468_3474del (p.Phe1156LeufsTer9) c.3003_3009del (p.Phe1001LeufsTer9) | ClinVar dbSNP |
| 18 | g.23535524A= | CA2290163870 | NPC1 | c.3422T= (p.Val1141=) c.177T= n.177T= c.2500T= c.99T= c.3473T= (p.Val1158=) c.3008T= (p.Val1003=) | |
| 18 | g.23535524A>C | CA297079167 | NPC1 | c.3422T>G (p.Val1141Gly) c.177T>G n.177T>G c.2500T>G c.99T>G c.3473T>G (p.Val1158Gly) c.3008T>G (p.Val1003Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23535524A>G | CA401791233 | NPC1 | c.3422T>C (p.Val1141Ala) c.177T>C n.177T>C c.2500T>C c.99T>C c.3473T>C (p.Val1158Ala) c.3008T>C (p.Val1003Ala) | gnomAD v4 |
| 18 | g.23535524A>T | CA401791234 | NPC1 | c.3422T>A (p.Val1141Asp) c.177T>A n.177T>A c.2500T>A c.99T>A c.3473T>A (p.Val1158Asp) c.3008T>A (p.Val1003Asp) | |
| 18 | g.23535525C>A | CA401791235 | NPC1 | c.3421G>T (p.Val1141Phe) c.176G>T n.176G>T c.2499G>T c.98G>T c.3472G>T (p.Val1158Phe) c.3007G>T (p.Val1003Phe) | |
| 18 | g.23535525C>G | CA401791236 | NPC1 | c.3421G>C (p.Val1141Leu) c.176G>C n.176G>C c.2499G>C c.98G>C c.3472G>C (p.Val1158Leu) c.3007G>C (p.Val1003Leu) | |
| 18 | g.23535525C>T | CA401791237 | NPC1 | c.3421G>A (p.Val1141Ile) c.176G>A n.176G>A c.2499G>A c.98G>A c.3472G>A (p.Val1158Ile) c.3007G>A (p.Val1003Ile) | |
| 18 | g.23535526T>A | CA503521675 | NPC1 | c.3420A>T (p.Gly1140=) c.175A>T n.175A>T c.2498A>T c.97A>T c.3471A>T (p.Gly1157=) c.3006A>T (p.Gly1002=) | |
| 18 | g.23535526T>C | CA503521676 | NPC1 | c.3420A>G (p.Gly1140=) c.175A>G n.175A>G c.2498A>G c.97A>G c.3471A>G (p.Gly1157=) c.3006A>G (p.Gly1002=) | ClinVar dbSNP gnomAD v4 |
| 18 | g.23535526T>G | CA503521677 | NPC1 | c.3420A>C (p.Gly1140=) c.175A>C n.175A>C c.2498A>C c.97A>C c.3471A>C (p.Gly1157=) c.3006A>C (p.Gly1002=) | |
| 18 | g.23535527C>A | CA401791238 | NPC1 | c.3419G>T (p.Gly1140Val) c.174G>T n.174G>T c.2497G>T c.96G>T c.3470G>T (p.Gly1157Val) c.3005G>T (p.Gly1002Val) | ClinVar dbSNP gnomAD v4 |
| 18 | g.23535527C= | CA2290163871 | NPC1 | c.3419G= (p.Gly1140=) c.174G= n.174G= c.2497G= c.96G= c.3470G= (p.Gly1157=) c.3005G= (p.Gly1002=) | |
| 18 | g.23535527C>G | CA401791239 | NPC1 | c.3419G>C (p.Gly1140Ala) c.174G>C n.174G>C c.2497G>C c.96G>C c.3470G>C (p.Gly1157Ala) c.3005G>C (p.Gly1002Ala) | |
| 18 | g.23535527C>T | CA401791240 | NPC1 | c.3419G>A (p.Gly1140Glu) c.174G>A n.174G>A c.2497G>A c.96G>A c.3470G>A (p.Gly1157Glu) c.3005G>A (p.Gly1002Glu) | |
| 18 | g.23535528C>A | CA401791241 | NPC1 | c.3418G>T (p.Gly1140Ter) c.173G>T n.173G>T c.2496G>T c.95G>T c.3469G>T (p.Gly1157Ter) c.3004G>T (p.Gly1002Ter) | |
| 18 | g.23535528C>G | CA401791242 | NPC1 | c.3418G>C (p.Gly1140Arg) c.173G>C n.173G>C c.2496G>C c.95G>C c.3469G>C (p.Gly1157Arg) c.3004G>C (p.Gly1002Arg) | |
| 18 | g.23535528C>T | CA401791243 | NPC1 | c.3418G>A (p.Gly1140Arg) c.173G>A n.173G>A c.2496G>A c.95G>A c.3469G>A (p.Gly1157Arg) c.3004G>A (p.Gly1002Arg) | gnomAD v4 |
| 18 | g.23535529A>C | CA401791245 | NPC1 | c.3417T>G (p.Phe1139Leu) c.172T>G n.172T>G c.2495T>G c.94T>G c.3468T>G (p.Phe1156Leu) c.3003T>G (p.Phe1001Leu) | |
| 18 | g.23535529A>G | CA503521678 | NPC1 | c.3417T>C (p.Phe1139=) c.172T>C n.172T>C c.2495T>C c.94T>C c.3468T>C (p.Phe1156=) c.3003T>C (p.Phe1001=) | ClinVar dbSNP |
| 18 | g.23535529A>T | CA401791244 | NPC1 | c.3417T>A (p.Phe1139Leu) c.172T>A n.172T>A c.2495T>A c.94T>A c.3468T>A (p.Phe1156Leu) c.3003T>A (p.Phe1001Leu) | |
| 18 | g.23535530A>C | CA401791246 | NPC1 | c.3416T>G (p.Phe1139Cys) c.171T>G n.171T>G c.2494T>G c.93T>G c.3467T>G (p.Phe1156Cys) c.3002T>G (p.Phe1001Cys) | |
| 18 | g.23535530A>G | CA401791247 | NPC1 | c.3416T>C (p.Phe1139Ser) c.171T>C n.171T>C c.2494T>C c.93T>C c.3467T>C (p.Phe1156Ser) c.3002T>C (p.Phe1001Ser) | |
| 18 | g.23535530A>T | CA401791248 | NPC1 | c.3416T>A (p.Phe1139Tyr) c.171T>A n.171T>A c.2494T>A c.93T>A c.3467T>A (p.Phe1156Tyr) c.3002T>A (p.Phe1001Tyr) | gnomAD v4 |
| 18 | g.23535531A>C | CA401791249 | NPC1 | c.3415T>G (p.Phe1139Val) c.170T>G n.170T>G c.2493T>G c.92T>G c.3466T>G (p.Phe1156Val) c.3001T>G (p.Phe1001Val) | |
| 18 | g.23535531A>G | CA401791250 | NPC1 | c.3415T>C (p.Phe1139Leu) c.170T>C n.170T>C c.2493T>C c.92T>C c.3466T>C (p.Phe1156Leu) c.3001T>C (p.Phe1001Leu) | gnomAD v4 |
| 18 | g.23535531A>T | CA401791251 | NPC1 | c.3415T>A (p.Phe1139Ile) c.170T>A n.170T>A c.2493T>A c.92T>A c.3466T>A (p.Phe1156Ile) c.3001T>A (p.Phe1001Ile) | |
| 18 | g.23535532C>A | CA401791252 | NPC1 | c.3414G>T (p.Met1138Ile) c.169G>T n.169G>T c.2492G>T c.91G>T c.3465G>T (p.Met1155Ile) c.3000G>T (p.Met1000Ile) | |
| 18 | g.23535532C>G | CA401791253 | NPC1 | c.3414G>C (p.Met1138Ile) c.169G>C n.169G>C c.2492G>C c.91G>C c.3465G>C (p.Met1155Ile) c.3000G>C (p.Met1000Ile) | |
| 18 | g.23535532C>T | CA401791254 | NPC1 | c.3414G>A (p.Met1138Ile) c.169G>A n.169G>A c.2492G>A c.91G>A c.3465G>A (p.Met1155Ile) c.3000G>A (p.Met1000Ile) | |
| 18 | g.23535533A>C | CA401791255 | NPC1 | c.3413T>G (p.Met1138Arg) c.168T>G n.168T>G c.2491T>G c.90T>G c.3464T>G (p.Met1155Arg) c.2999T>G (p.Met1000Arg) | gnomAD v4 |
| 18 | g.23535533A>G | CA401791256 | NPC1 | c.3413T>C (p.Met1138Thr) c.168T>C n.168T>C c.2491T>C c.90T>C c.3464T>C (p.Met1155Thr) c.2999T>C (p.Met1000Thr) | ClinVar |
| 18 | g.23535533A>T | CA401791257 | NPC1 | c.3413T>A (p.Met1138Lys) c.168T>A n.168T>A c.2491T>A c.90T>A c.3464T>A (p.Met1155Lys) c.2999T>A (p.Met1000Lys) | |
| 18 | g.23535533_23535534del | CA2580095540 | NPC1 | c.3412_3413del (p.Met1138ValfsTer?) c.167_168del n.167_168del c.2490_2491del c.89_90del c.3463_3464del (p.Met1155ValfsTer?) c.2998_2999del (p.Met1000ValfsTer?) | ClinVar |
| 18 | g.23535534T>A | CA8912783 | NPC1 | c.3412A>T (p.Met1138Leu) c.167A>T n.167A>T c.2490A>T c.89A>T c.3463A>T (p.Met1155Leu) c.2998A>T (p.Met1000Leu) | dbSNP ExAC gnomAD v2 |
| 18 | g.23535534T>C | CA401791259 | NPC1 | c.3412A>G (p.Met1138Val) c.167A>G n.167A>G c.2490A>G c.89A>G c.3463A>G (p.Met1155Val) c.2998A>G (p.Met1000Val) | |
| 18 | g.23535534T>G | CA401791258 | NPC1 | c.3412A>C (p.Met1138Leu) c.167A>C n.167A>C c.2490A>C c.89A>C c.3463A>C (p.Met1155Leu) c.2998A>C (p.Met1000Leu) | |
| 18 | g.23535534T= | CA2290163872 | NPC1 | c.3412A= (p.Met1138=) c.167A= n.167A= c.2490A= c.89A= c.3463A= (p.Met1155=) c.2998A= (p.Met1000=) | |
| 18 | g.23535535G>A | CA503521679 | NPC1 | c.3411C>T (p.Asn1137=) c.166C>T n.166C>T c.2489C>T c.88C>T c.3462C>T (p.Asn1154=) c.2997C>T (p.Asn999=) | |
| 18 | g.23535535G>C | CA401791260 | NPC1 | c.3411C>G (p.Asn1137Lys) c.166C>G n.166C>G c.2489C>G c.88C>G c.3462C>G (p.Asn1154Lys) c.2997C>G (p.Asn999Lys) | |
| 18 | g.23535535G= | CA2290163873 | NPC1 | c.3411C= (p.Asn1137=) c.166C= n.166C= c.2489C= c.88C= c.3462C= (p.Asn1154=) c.2997C= (p.Asn999=) | |
| 18 | g.23535535G>T | CA401791261 | NPC1 | c.3411C>A (p.Asn1137Lys) c.166C>A n.166C>A c.2489C>A c.88C>A c.3462C>A (p.Asn1154Lys) c.2997C>A (p.Asn999Lys) | |
| 18 | g.23535536T>A | CA401791262 | NPC1 | c.3410A>T (p.Asn1137Ile) c.165A>T n.165A>T c.2488A>T c.87A>T c.3461A>T (p.Asn1154Ile) c.2996A>T (p.Asn999Ile) | |
| 18 | g.23535536T>C | CA401791263 | NPC1 | c.3410A>G (p.Asn1137Ser) c.165A>G n.165A>G c.2488A>G c.87A>G c.3461A>G (p.Asn1154Ser) c.2996A>G (p.Asn999Ser) | ClinVar dbSNP gnomAD v4 |
| 18 | g.23535536T>G | CA401791264 | NPC1 | c.3410A>C (p.Asn1137Thr) c.165A>C n.165A>C c.2488A>C c.87A>C c.3461A>C (p.Asn1154Thr) c.2996A>C (p.Asn999Thr) | |
| 18 | g.23535536T= | CA2290163874 | NPC1 | c.3410A= (p.Asn1137=) c.165A= n.165A= c.2488A= c.87A= c.3461A= (p.Asn1154=) c.2996A= (p.Asn999=) | |
| 18 | g.23535537dup | CA297079171 | NPC1 | c.3410dup (p.Asn1137LysfsTer?) c.165dup n.165dup c.2488dup c.87dup c.3461dup (p.Asn1154LysfsTer?) c.2996dup (p.Asn999LysfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23535537T>A | CA401791265 | NPC1 | c.3409A>T (p.Asn1137Tyr) c.164A>T n.164A>T c.2487A>T c.86A>T c.3460A>T (p.Asn1154Tyr) c.2995A>T (p.Asn999Tyr) | |
| 18 | g.23535537T>C | CA401791266 | NPC1 | c.3409A>G (p.Asn1137Asp) c.164A>G n.164A>G c.2487A>G c.86A>G c.3460A>G (p.Asn1154Asp) c.2995A>G (p.Asn999Asp) | |
| 18 | g.23535537T>G | CA401791267 | NPC1 | c.3409A>C (p.Asn1137His) c.164A>C n.164A>C c.2487A>C c.86A>C c.3460A>C (p.Asn1154His) c.2995A>C (p.Asn999His) | |
| 18 | g.23535538G>A | CA503521680 | NPC1 | c.3408C>T (p.Val1136=) c.163C>T n.163C>T c.2486C>T c.85C>T c.3459C>T (p.Val1153=) c.2994C>T (p.Val998=) | ClinVar dbSNP |
| 18 | g.23535538G>C | CA503521681 | NPC1 | c.3408C>G (p.Val1136=) c.163C>G n.163C>G c.2486C>G c.85C>G c.3459C>G (p.Val1153=) c.2994C>G (p.Val998=) | |
| 18 | g.23535538G>T | CA503521682 | NPC1 | c.3408C>A (p.Val1136=) c.163C>A n.163C>A c.2486C>A c.85C>A c.3459C>A (p.Val1153=) c.2994C>A (p.Val998=) | COSMIC COSMIC |
| 18 | g.23535539A>C | CA401791268 | NPC1 | c.3407T>G (p.Val1136Gly) c.162T>G n.162T>G c.2485T>G c.84T>G c.3458T>G (p.Val1153Gly) c.2993T>G (p.Val998Gly) | |
| 18 | g.23535539A>G | CA401791269 | NPC1 | c.3407T>C (p.Val1136Ala) c.162T>C n.162T>C c.2485T>C c.84T>C c.3458T>C (p.Val1153Ala) c.2993T>C (p.Val998Ala) | |
| 18 | g.23535539A>T | CA401791270 | NPC1 | c.3407T>A (p.Val1136Asp) c.162T>A n.162T>A c.2485T>A c.84T>A c.3458T>A (p.Val1153Asp) c.2993T>A (p.Val998Asp) | |
| 18 | g.23535540C>A | CA401791271 | NPC1 | c.3406G>T (p.Val1136Phe) c.161G>T n.161G>T c.2484G>T c.83G>T c.3457G>T (p.Val1153Phe) c.2992G>T (p.Val998Phe) | |
| 18 | g.23535540C>G | CA401791272 | NPC1 | c.3406G>C (p.Val1136Leu) c.161G>C n.161G>C c.2484G>C c.83G>C c.3457G>C (p.Val1153Leu) c.2992G>C (p.Val998Leu) | gnomAD v4 |
| 18 | g.23535540C>T | CA401791273 | NPC1 | c.3406G>A (p.Val1136Ile) c.161G>A n.161G>A c.2484G>A c.83G>A c.3457G>A (p.Val1153Ile) c.2992G>A (p.Val998Ile) | ClinVar gnomAD v4 |
| 18 | g.23535541C>A | CA401791274 | NPC1 | c.3405G>T (p.Leu1135Phe) c.160G>T n.160G>T c.2483G>T c.82G>T c.3456G>T (p.Leu1152Phe) c.2991G>T (p.Leu997Phe) | |
| 18 | g.23535541C>G | CA401791275 | NPC1 | c.3405G>C (p.Leu1135Phe) c.160G>C n.160G>C c.2483G>C c.82G>C c.3456G>C (p.Leu1152Phe) c.2991G>C (p.Leu997Phe) | |
| 18 | g.23535541C>T | CA503521683 | NPC1 | c.3405G>A (p.Leu1135=) c.160G>A n.160G>A c.2483G>A c.82G>A c.3456G>A (p.Leu1152=) c.2991G>A (p.Leu997=) | gnomAD v4 |
| 18 | g.23535542A>C | CA401791276 | NPC1 | c.3404T>G (p.Leu1135Trp) c.159T>G n.159T>G c.2482T>G c.81T>G c.3455T>G (p.Leu1152Trp) c.2990T>G (p.Leu997Trp) | |
| 18 | g.23535542A>G | CA401791277 | NPC1 | c.3404T>C (p.Leu1135Ser) c.159T>C n.159T>C c.2482T>C c.81T>C c.3455T>C (p.Leu1152Ser) c.2990T>C (p.Leu997Ser) | |
| 18 | g.23535542A>T | CA401791278 | NPC1 | c.3404T>A (p.Leu1135Ter) c.159T>A n.159T>A c.2482T>A c.81T>A c.3455T>A (p.Leu1152Ter) c.2990T>A (p.Leu997Ter) | |
| 18 | g.23535543A>C | CA401791279 | NPC1 | c.3403T>G (p.Leu1135Val) c.158T>G n.158T>G c.2481T>G c.80T>G c.3454T>G (p.Leu1152Val) c.2989T>G (p.Leu997Val) | |
| 18 | g.23535543A>G | CA503521684 | NPC1 | c.3403T>C (p.Leu1135=) c.158T>C n.158T>C c.2481T>C c.80T>C c.3454T>C (p.Leu1152=) c.2989T>C (p.Leu997=) | gnomAD v4 |
| 18 | g.23535543A>T | CA401791280 | NPC1 | c.3403T>A (p.Leu1135Met) c.158T>A n.158T>A c.2481T>A c.80T>A c.3454T>A (p.Leu1152Met) c.2989T>A (p.Leu997Met) | |
| 18 | g.23535544G>A | CA503521685 | NPC1 | c.3402C>T (p.Val1134=) c.157C>T n.157C>T c.2480C>T c.79C>T c.3453C>T (p.Val1151=) c.2988C>T (p.Val996=) | |
| 18 | g.23535544G>C | CA503521686 | NPC1 | c.3402C>G (p.Val1134=) c.157C>G n.157C>G c.2480C>G c.79C>G c.3453C>G (p.Val1151=) c.2988C>G (p.Val996=) | |
| 18 | g.23535544G= | CA2290163875 | NPC1 | c.3402C= (p.Val1134=) c.157C= n.157C= c.2480C= c.79C= c.3453C= (p.Val1151=) c.2988C= (p.Val996=) | |
| 18 | g.23535544G>T | CA503521687 | NPC1 | c.3402C>A (p.Val1134=) c.157C>A n.157C>A c.2480C>A c.79C>A c.3453C>A (p.Val1151=) c.2988C>A (p.Val996=) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.23535545A>C | CA401791281 | NPC1 | c.3401T>G (p.Val1134Gly) c.156T>G n.156T>G c.2479T>G c.78T>G c.3452T>G (p.Val1151Gly) c.2987T>G (p.Val996Gly) | |
| 18 | g.23535545A>G | CA401791282 | NPC1 | c.3401T>C (p.Val1134Ala) c.156T>C n.156T>C c.2479T>C c.78T>C c.3452T>C (p.Val1151Ala) c.2987T>C (p.Val996Ala) | gnomAD v4 |
| 18 | g.23535545A>T | CA401791283 | NPC1 | c.3401T>A (p.Val1134Asp) c.156T>A n.156T>A c.2479T>A c.78T>A c.3452T>A (p.Val1151Asp) c.2987T>A (p.Val996Asp) | |
| 18 | g.23535546C>A | CA401791284 | NPC1 | c.3400G>T (p.Val1134Phe) c.155G>T n.155G>T c.2478G>T c.77G>T c.3451G>T (p.Val1151Phe) c.2986G>T (p.Val996Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.23535546C= | CA2290163876 | NPC1 | c.3400G= (p.Val1134=) c.155G= n.155G= c.2478G= c.77G= c.3451G= (p.Val1151=) c.2986G= (p.Val996=) | |
| 18 | g.23535546C>G | CA401791285 | NPC1 | c.3400G>C (p.Val1134Leu) c.155G>C n.155G>C c.2478G>C c.77G>C c.3451G>C (p.Val1151Leu) c.2986G>C (p.Val996Leu) | |
| 18 | g.23535546C>T | CA401791286 | NPC1 | c.3400G>A (p.Val1134Ile) c.155G>A n.155G>A c.2478G>A c.77G>A c.3451G>A (p.Val1151Ile) c.2986G>A (p.Val996Ile) | |
| 18 | g.23535547C>A | CA401791289 | NPC1 | c.3399G>T (p.Met1133Ile) c.154G>T n.154G>T c.2477G>T c.76G>T c.3450G>T (p.Met1150Ile) c.2985G>T (p.Met995Ile) | |
| 18 | g.23535547C>G | CA401791288 | NPC1 | c.3399G>C (p.Met1133Ile) c.154G>C n.154G>C c.2477G>C c.76G>C c.3450G>C (p.Met1150Ile) c.2985G>C (p.Met995Ile) | |
| 18 | g.23535547C>T | CA401791287 | NPC1 | c.3399G>A (p.Met1133Ile) c.154G>A n.154G>A c.2477G>A c.76G>A c.3450G>A (p.Met1150Ile) c.2985G>A (p.Met995Ile) | |
| 18 | g.23535548A>C | CA401791290 | NPC1 | c.3398T>G (p.Met1133Arg) c.153T>G n.153T>G c.2476T>G c.75T>G c.3449T>G (p.Met1150Arg) c.2984T>G (p.Met995Arg) | |
| 18 | g.23535548A>G | CA401791291 | NPC1 | c.3398T>C (p.Met1133Thr) c.153T>C n.153T>C c.2476T>C c.75T>C c.3449T>C (p.Met1150Thr) c.2984T>C (p.Met995Thr) | |
| 18 | g.23535548A>T | CA401791292 | NPC1 | c.3398T>A (p.Met1133Lys) c.153T>A n.153T>A c.2476T>A c.75T>A c.3449T>A (p.Met1150Lys) c.2984T>A (p.Met995Lys) | |
| 18 | g.23535549T>A | CA401791293 | NPC1 | c.3397A>T (p.Met1133Leu) c.152A>T n.152A>T c.2475A>T c.74A>T c.3448A>T (p.Met1150Leu) c.2983A>T (p.Met995Leu) | |
| 18 | g.23535549T>C | CA401791294 | NPC1 | c.3397A>G (p.Met1133Val) c.152A>G n.152A>G c.2475A>G c.74A>G c.3448A>G (p.Met1150Val) c.2983A>G (p.Met995Val) | dbSNP gnomAD v4 |
| 18 | g.23535549T>G | CA401791295 | NPC1 | c.3397A>C (p.Met1133Leu) c.152A>C n.152A>C c.2475A>C c.74A>C c.3448A>C (p.Met1150Leu) c.2983A>C (p.Met995Leu) | |
| 18 | g.23535549T= | CA2290163877 | NPC1 | c.3397A= (p.Met1133=) c.152A= n.152A= c.2475A= c.74A= c.3448A= (p.Met1150=) c.2983A= (p.Met995=) | |
| 18 | g.23535550G>A | CA8912784 | NPC1 | c.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 |
| 18 | g.23535550G>C | CA503521689 | NPC1 | c.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=) | |
| 18 | g.23535550G= | CA2290163878 | NPC1 | c.3396C= (p.Ala1132=) c.151C= n.151C= c.2474C= c.73C= c.3447C= (p.Ala1149=) c.2982C= (p.Ala994=) | |
| 18 | g.23535550G>T | CA503521688 | NPC1 | c.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=) | |
| 18 | g.23535551G>A | CA401791296 | NPC1 | c.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 |
| 18 | g.23535551G>C | CA401791297 | NPC1 | c.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) | |
| 18 | g.23535551G= | CA2290163879 | NPC1 | c.3395C= (p.Ala1132=) c.150C= n.150C= c.2473C= c.72C= c.3446C= (p.Ala1149=) c.2981C= (p.Ala994=) | |
| 18 | g.23535551G>T | CA401791298 | NPC1 | c.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) | |
| 18 | g.23535552C>A | CA401791299 | NPC1 | c.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) | |
| 18 | g.23535552C= | CA2290163880 | NPC1 | c.3394G= (p.Ala1132=) c.149G= n.149G= c.2472G= c.71G= c.3445G= (p.Ala1149=) c.2980G= (p.Ala994=) | |
| 18 | g.23535552C>G | CA401791300 | NPC1 | c.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) | |
| 18 | g.23535552C>T | CA297079175 | NPC1 | c.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 |
| 18 | g.23535553G>A | CA8912785 | NPC1 | c.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 |
| 18 | g.23535553G>C | CA401791301 | NPC1 | c.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 |
| 18 | g.23535553G= | CA2290163881 | NPC1 | c.3393C= (p.Ile1131=) c.148C= n.148C= c.2471C= c.70C= c.3444C= (p.Ile1148=) c.2979C= (p.Ile993=) | |
| 18 | g.23535553G>T | CA503521690 | NPC1 | c.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=) | |
| 18 | g.23535554A>C | CA401791302 | NPC1 | c.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) | |
| 18 | g.23535554A>G | CA401791303 | NPC1 | c.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 |
| 18 | g.23535554A>T | CA401791304 | NPC1 | c.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) | |
| 18 | g.23535555T>A | CA401791305 | NPC1 | c.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) | |
| 18 | g.23535555T>C | CA401791306 | NPC1 | c.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 |
| 18 | g.23535555T>G | CA401791307 | NPC1 | c.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) | |
| 18 | g.23535555T= | CA2290163882 | NPC1 | c.3391A= (p.Ile1131=) c.146A= n.146A= c.2469A= c.68A= c.3442A= (p.Ile1148=) c.2977A= (p.Ile993=) | |
| 18 | g.23535556G>A | CA503521691 | NPC1 | c.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 |
| 18 | g.23535556G>C | CA503521692 | NPC1 | c.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=) | |
| 18 | g.23535556G>T | CA503521693 | NPC1 | c.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=) | |
| 18 | g.23535557G>A | CA401791308 | NPC1 | c.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) | |
| 18 | g.23535557G>C | CA401791309 | NPC1 | c.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) | |
| 18 | g.23535557G>T | CA401791310 | NPC1 | c.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) | |
| 18 | g.23535558T>A | CA401791311 | NPC1 | c.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) | |
| 18 | g.23535558T>C | CA401791312 | NPC1 | c.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 |
| 18 | g.23535558T>G | CA401791313 | NPC1 | c.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) | |
| 18 | g.23535558T= | CA2290163883 | NPC1 | c.3388A= (p.Thr1130=) c.143A= n.143A= c.2466A= c.65A= c.3439A= (p.Thr1147=) c.2974A= (p.Thr992=) | |
| 18 | g.23535559G>A | CA8912786 | NPC1 | c.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 |
| 18 | g.23535559G>C | CA503521694 | NPC1 | c.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=) | |
| 18 | g.23535559G= | CA2290163884 | NPC1 | c.3387C= (p.Ala1129=) c.142C= n.142C= c.2465C= c.64C= c.3438C= (p.Ala1146=) c.2973C= (p.Ala991=) | |
| 18 | g.23535559G>T | CA503521695 | NPC1 | c.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=) | |
| 18 | g.23535560G>A | CA401791315 | NPC1 | c.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) | |
| 18 | g.23535560G>C | CA401791316 | NPC1 | c.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) | |
| 18 | g.23535560G>T | CA401791314 | NPC1 | c.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) | |
| 18 | g.23535561C>A | CA401791318 | NPC1 | c.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) | |
| 18 | g.23535561C>G | CA401791317 | NPC1 | c.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) | |
| 18 | g.23535561C>T | CA401791319 | NPC1 | c.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 |
| 18 | g.23535562A>C | CA401791320 | NPC1 | c.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) | |
| 18 | g.23535562A>G | CA503521696 | NPC1 | c.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 |
| 18 | g.23535562A>T | CA401791321 | NPC1 | c.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) | |
| 18 | g.23535563C>A | CA401791322 | NPC1 | c.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) | |
| 18 | g.23535563C>G | CA401791324 | NPC1 | c.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) | |
| 18 | g.23535563C>T | CA401791323 | NPC1 | c.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 |
| 18 | g.23535564A>C | CA401791325 | NPC1 | c.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) | |
| 18 | g.23535564A>G | CA401791326 | NPC1 | c.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 |
| 18 | g.23535564A>T | CA401791327 | NPC1 | c.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) | |
| 18 | g.23535565C>A | CA401791328 | NPC1 | c.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) | |
| 18 | g.23535565C>G | CA401791329 | NPC1 | c.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) | |
| 18 | g.23535565C>T | CA401791330 | NPC1 | c.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 |
| 18 | g.23535565_23535567delinsCAT | CA2290163885 | NPC1 | c.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=) | |
| 18 | g.23535566A= | CA2290163886 | NPC1 | c.3380T= (p.Met1127=) c.135T= n.135T= c.2458T= c.57T= c.3431T= (p.Met1144=) c.2966T= (p.Met989=) | |
| 18 | g.23535566A>C | CA401791331 | NPC1 | c.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) | |
| 18 | g.23535566A>G | CA401791332 | NPC1 | c.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 |
| 18 | g.23535566A>T | CA401791333 | NPC1 | c.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) | |
| 18 | g.23535566_23535567del | CA916083636 | NPC1 | c.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 |
| 18 | g.23535567T>A | CA401791334 | NPC1 | c.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) | |
| 18 | g.23535567T>C | CA8912787 | NPC1 | c.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 |
| 18 | g.23535567T>G | CA401791335 | NPC1 | c.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) | |
| 18 | g.23535567T= | CA2290163887 | NPC1 | c.3379A= (p.Met1127=) c.134A= n.134A= c.2457A= c.56A= c.3430A= (p.Met1144=) c.2965A= (p.Met989=) | |
| 18 | g.23535568G>A | CA8912788 | NPC1 | c.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 |
| 18 | g.23535568G>C | CA401791336 | NPC1 | c.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 |
| 18 | g.23535568G= | CA2290163888 | NPC1 | c.3378C= (p.Ile1126=) c.133C= n.133C= c.2456C= c.55C= c.3429C= (p.Ile1143=) c.2964C= (p.Ile988=) | |
| 18 | g.23535568G>T | CA503521697 | NPC1 | c.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=) | |
| 18 | g.23535569A= | CA2290163889 | NPC1 | c.3377T= (p.Ile1126=) c.132T= n.132T= c.2455T= c.54T= c.3428T= (p.Ile1143=) c.2963T= (p.Ile988=) | |
| 18 | g.23535569A>C | CA401791337 | NPC1 | c.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) | |
| 18 | g.23535569A>G | CA297079185 | NPC1 | c.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 |
| 18 | g.23535569A>T | CA401791338 | NPC1 | c.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 |
| 18 | g.23535570T>A | CA401791339 | NPC1 | c.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) | |
| 18 | g.23535570T>C | CA401791340 | NPC1 | c.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 |
| 18 | g.23535570T>G | CA401791341 | NPC1 | c.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 |
| 18 | g.23535570T= | CA2290163890 | NPC1 | c.3376A= (p.Ile1126=) c.131A= n.131A= c.2454A= c.53A= c.3427A= (p.Ile1143=) c.2962A= (p.Ile988=) | |
| 18 | g.23535571G>A | CA8912789 | NPC1 | c.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 |
| 18 | g.23535571G>C | CA503521699 | NPC1 | c.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=) | |
| 18 | g.23535571G= | CA2290163891 | NPC1 | c.3375C= (p.Val1125=) c.130C= n.130C= c.2453C= c.52C= c.3426C= (p.Val1142=) c.2961C= (p.Val987=) | |
| 18 | g.23535571G>T | CA503521698 | NPC1 | c.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=) | |
| 18 | g.23535572A>C | CA401791342 | NPC1 | c.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) | |
| 18 | g.23535572A>G | CA401791343 | NPC1 | c.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) | |
| 18 | g.23535572A>T | CA401791344 | NPC1 | c.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) | |
| 18 | g.23535573C>A | CA8912790 | NPC1 | c.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 |
| 18 | g.23535573C= | CA2290163892 | NPC1 | c.3373G= (p.Val1125=) c.128G= n.128G= c.2451G= c.50G= c.3424G= (p.Val1142=) c.2959G= (p.Val987=) | |
| 18 | g.23535573C>G | CA401791345 | NPC1 | c.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 |
| 18 | g.23535573C>T | CA401791346 | NPC1 | c.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 |
| 18 | g.23535574T>A | CA503521700 | NPC1 | c.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 |
| 18 | g.23535574T>C | CA503521701 | NPC1 | c.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=) | |
| 18 | g.23535574T>G | CA503521702 | NPC1 | c.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=) | |
| 18 | g.23535575G>A | CA401791349 | NPC1 | c.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) | |
| 18 | g.23535575G>C | CA401791347 | NPC1 | c.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) | |
| 18 | g.23535575G>T | CA401791348 | NPC1 | c.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) | |
| 18 | g.23535576C>A | CA401791350 | NPC1 | c.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) | |
| 18 | g.23535576C>G | CA401791351 | NPC1 | c.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) | |
| 18 | g.23535576C>T | CA401791352 | NPC1 | c.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 |
| 18 | g.23535577A>C | CA503521703 | NPC1 | c.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=) | |
| 18 | g.23535577A>G | CA503521704 | NPC1 | c.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=) | |
| 18 | g.23535577A>T | CA503521705 | NPC1 | c.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=) | |
| 18 | g.23535578G>A | CA401791353 | NPC1 | c.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) | |
| 18 | g.23535578G>C | CA401791354 | NPC1 | c.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) | |
| 18 | g.23535578G>T | CA401791355 | NPC1 | c.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) | |
| 18 | g.23535579A>C | CA401791358 | NPC1 | c.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) | |
| 18 | g.23535579A>G | CA401791357 | NPC1 | c.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 |
| 18 | g.23535579A>T | CA401791356 | NPC1 | c.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) | |
| 18 | g.23535580C>A | CA401791359 | NPC1 | c.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) | |
| 18 | g.23535580C= | CA2290163893 | NPC1 | c.3366G= (p.Trp1122=) c.121G= n.121G= c.2444G= c.43G= c.3417G= (p.Trp1139=) c.2952G= (p.Trp984=) | |
| 18 | g.23535580C>G | CA401791360 | NPC1 | c.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) | |
| 18 | g.23535580C>T | CA401791361 | NPC1 | c.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) | |
| 18 | g.23535580_23535581insA | CA777716018 | NPC1 | c.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 |
| 18 | g.23535581C>A | CA401791362 | NPC1 | c.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) | |
| 18 | g.23535581C>G | CA401791363 | NPC1 | c.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) | |
| 18 | g.23535581C>T | CA401791364 | NPC1 | c.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) | |
| 18 | g.23535581_23535583del | CA2641278414 | NPC1 | c.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 |
| 18 | g.23535582A= | CA2290163894 | NPC1 | c.3364T= (p.Trp1122=) c.119T= n.119T= c.2442T= c.41T= c.3415T= (p.Trp1139=) c.2950T= (p.Trp984=) | |
| 18 | g.23535582A>C | CA401791365 | NPC1 | c.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) | |
| 18 | g.23535582A>G | CA8912791 | NPC1 | c.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 |
| 18 | g.23535582A>T | CA401791366 | NPC1 | c.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) | |
| 18 | g.23535583G>A | CA503521706 | NPC1 | c.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=) | |
| 18 | g.23535583G>C | CA503521707 | NPC1 | c.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 |
| 18 | g.23535583G= | CA2290163895 | NPC1 | c.3363C= (p.Leu1121=) c.118C= n.118C= c.2441C= c.40C= c.3414C= (p.Leu1138=) c.2949C= (p.Leu983=) | |
| 18 | g.23535583G>T | CA503521708 | NPC1 | c.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=) | |
| 18 | g.23535584A= | CA2290163896 | NPC1 | c.3362T= (p.Leu1121=) c.117T= n.117T= c.2440T= c.39T= c.3413T= (p.Leu1138=) c.2948T= (p.Leu983=) | |
| 18 | g.23535584A>C | CA401791367 | NPC1 | c.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 |
| 18 | g.23535584A>G | CA401791368 | NPC1 | c.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 |
| 18 | g.23535584A>T | CA401791369 | NPC1 | c.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) | |
| 18 | g.23535585G>A | CA401791370 | NPC1 | c.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 |
| 18 | g.23535585G>C | CA401791371 | NPC1 | c.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) | |
| 18 | g.23535585G= | CA2290163897 | NPC1 | c.3361C= (p.Leu1121=) c.116C= n.116C= c.2439C= c.38C= c.3412C= (p.Leu1138=) c.2947C= (p.Leu983=) | |
| 18 | g.23535585G>T | CA8912792 | NPC1 | c.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 |
| 18 | g.23535586C>A | CA401791372 | NPC1 | c.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) | |
| 18 | g.23535586C>G | CA401791373 | NPC1 | c.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) | |
| 18 | g.23535586C>T | CA503521709 | NPC1 | c.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=) | |
| 18 | g.23535586_23535587insGT | CA2580095542 | NPC1 | c.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 |
| 18 | g.23535587T>A | CA401791374 | NPC1 | c.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) | |
| 18 | g.23535587T>C | CA401791375 | NPC1 | c.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) | |
| 18 | g.23535587T>G | CA401791376 | NPC1 | c.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) | |
| 18 | g.23535588C>A | CA401791379 | NPC1 | c.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) | |
| 18 | g.23535588C>G | CA401791377 | NPC1 | c.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) | |
| 18 | g.23535588C>T | CA401791378 | NPC1 | c.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) | |
| 18 | g.23535589A>C | CA401791380 | NPC1 | c.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 |
| 18 | g.23535589A>G | CA503521710 | NPC1 | c.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=) | |
| 18 | g.23535589A>T | CA401791381 | NPC1 | c.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) | |
| 18 | g.23535590C>A | CA401791382 | NPC1 | c.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) | |
| 18 | g.23535590C= | CA2290163898 | NPC1 | c.3356G= (p.Cys1119=) c.111G= n.111G= c.2434G= c.33G= c.3407G= (p.Cys1136=) c.2942G= (p.Cys981=) | |
| 18 | g.23535590C>G | CA401791383 | NPC1 | c.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) | |
| 18 | g.23535590C>T | CA401791384 | NPC1 | c.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 |
| 18 | g.23535591A= | CA2290163899 | NPC1 | c.3355T= (p.Cys1119=) c.110T= n.110T= c.2433T= c.32T= c.3406T= (p.Cys1136=) c.2941T= (p.Cys981=) | |
| 18 | g.23535591A>C | CA401791385 | NPC1 | c.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 |
| 18 | g.23535591A>G | CA401791386 | NPC1 | c.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 |
| 18 | g.23535591A>T | CA401791387 | NPC1 | c.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) | |
| 18 | g.23535592G>A | CA503521712 | NPC1 | c.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 |
| 18 | g.23535592G>C | CA503521713 | NPC1 | c.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=) | |
| 18 | g.23535592G>T | CA503521711 | NPC1 | c.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=) | |
| 18 | g.23535592_23535593delinsGC | CA2290163900 | NPC1 | c.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=) | |
| 18 | g.23535593C>A | CA401791388 | NPC1 | c.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) | |
| 18 | g.23535593C= | CA2290163902 | NPC1 | c.3353G= (p.Gly1118=) c.108G= n.108G= c.2431G= c.30G= c.3404G= (p.Gly1135=) c.2939G= (p.Gly980=) | |
| 18 | g.23535593C>G | CA401791389 | NPC1 | c.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) | |
| 18 | g.23535593C>T | CA401791390 | NPC1 | c.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 |
| 18 | g.23535595del | CA2290163901 | NPC1 | c.3353del (p.Gly1118AlafsTer?) c.108del n.108del c.2431del c.30del c.3404del (p.Gly1135AlafsTer?) c.2939del (p.Gly980AlafsTer?) | dbSNP |
| 18 | g.23535594C>A | CA401791391 | NPC1 | c.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) | |
| 18 | g.23535594C= | CA2290163903 | NPC1 | c.3352G= (p.Gly1118=) c.107G= n.107G= c.2430G= c.29G= c.3403G= (p.Gly1135=) c.2938G= (p.Gly980=) | |
| 18 | g.23535594C>G | CA401791392 | NPC1 | c.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) | |
| 18 | g.23535594C>T | CA401791393 | NPC1 | c.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 |