| 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.23535683T>A | CA401791576 | NPC1 | c.3263A>T (p.Tyr1088Phe) c.18A>T n.18A>T c.2341A>T c.3314A>T (p.Tyr1105Phe) c.2849A>T (p.Tyr950Phe) | |
| 18 | g.23535683T>C | CA115897 | NPC1 | c.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 |
| 18 | g.23535683T>G | CA401791575 | NPC1 | c.3263A>C (p.Tyr1088Ser) c.18A>C n.18A>C c.2341A>C c.3314A>C (p.Tyr1105Ser) c.2849A>C (p.Tyr950Ser) | |
| 18 | g.23535683T= | CA2290163947 | NPC1 | c.3263A= (p.Tyr1088=) c.18A= n.18A= c.2341A= c.3314A= (p.Tyr1105=) c.2849A= (p.Tyr950=) | |
| 18 | g.23535684A>C | CA401791577 | NPC1 | c.3262T>G (p.Tyr1088Asp) c.17T>G n.17T>G c.2340T>G c.3313T>G (p.Tyr1105Asp) c.2848T>G (p.Tyr950Asp) | |
| 18 | g.23535684A>G | CA401791578 | NPC1 | c.3262T>C (p.Tyr1088His) c.17T>C n.17T>C c.2340T>C c.3313T>C (p.Tyr1105His) c.2848T>C (p.Tyr950His) | |
| 18 | g.23535684A>T | CA401791579 | NPC1 | c.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 |
| 18 | g.23535685G>A | CA503521802 | NPC1 | c.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 |
| 18 | g.23535685G>C | CA401791580 | NPC1 | c.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 |
| 18 | g.23535685G>T | CA401791581 | NPC1 | c.3261C>A (p.Phe1087Leu) c.16C>A n.16C>A c.2339C>A c.3312C>A (p.Phe1104Leu) c.2847C>A (p.Phe949Leu) | |
| 18 | g.23535686A>C | CA401791584 | NPC1 | c.3260T>G (p.Phe1087Cys) c.15T>G n.15T>G c.2338T>G c.3311T>G (p.Phe1104Cys) c.2846T>G (p.Phe949Cys) | |
| 18 | g.23535686A>G | CA401791583 | NPC1 | c.3260T>C (p.Phe1087Ser) c.15T>C n.15T>C c.2338T>C c.3311T>C (p.Phe1104Ser) c.2846T>C (p.Phe949Ser) | |
| 18 | g.23535686A>T | CA401791582 | NPC1 | c.3260T>A (p.Phe1087Tyr) c.15T>A n.15T>A c.2338T>A c.3311T>A (p.Phe1104Tyr) c.2846T>A (p.Phe949Tyr) | |
| 18 | g.23535687del | CA2641278436 | NPC1 | c.3260del (p.Phe1087SerfsTer6) c.15del n.15del c.2338del c.3311del (p.Phe1104SerfsTer6) c.2846del (p.Phe949SerfsTer6) | gnomAD v4 |
| 18 | g.23535687A= | CA2290163948 | NPC1 | c.3259T= (p.Phe1087=) c.14T= n.14T= c.2337T= c.3310T= (p.Phe1104=) c.2845T= (p.Phe949=) | |
| 18 | g.23535687A>C | CA401791585 | NPC1 | c.3259T>G (p.Phe1087Val) c.14T>G n.14T>G c.2337T>G c.3310T>G (p.Phe1104Val) c.2845T>G (p.Phe949Val) | |
| 18 | g.23535687A>G | CA297079275 | NPC1 | c.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 |
| 18 | g.23535687A>T | CA401791586 | NPC1 | c.3259T>A (p.Phe1087Ile) c.14T>A n.14T>A c.2337T>A c.3310T>A (p.Phe1104Ile) c.2845T>A (p.Phe949Ile) | |
| 18 | g.23535688G>A | CA503521805 | NPC1 | c.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 |
| 18 | g.23535688G>C | CA503521807 | NPC1 | c.3258C>G (p.Val1086=) c.13C>G n.13C>G c.2336C>G c.3309C>G (p.Val1103=) c.2844C>G (p.Val948=) | |
| 18 | g.23535688G= | CA2290163949 | NPC1 | c.3258C= (p.Val1086=) c.13C= n.13C= c.2336C= c.3309C= (p.Val1103=) c.2844C= (p.Val948=) | |
| 18 | g.23535688G>T | CA503521809 | NPC1 | c.3258C>A (p.Val1086=) c.13C>A n.13C>A c.2336C>A c.3309C>A (p.Val1103=) c.2844C>A (p.Val948=) | |
| 18 | g.23535689A>C | CA401791587 | NPC1 | c.3257T>G (p.Val1086Gly) c.12T>G n.12T>G c.2335T>G c.3308T>G (p.Val1103Gly) c.2843T>G (p.Val948Gly) | |
| 18 | g.23535689A>G | CA401791588 | NPC1 | c.3257T>C (p.Val1086Ala) c.12T>C n.12T>C c.2335T>C c.3308T>C (p.Val1103Ala) c.2843T>C (p.Val948Ala) | |
| 18 | g.23535689A>T | CA401791589 | NPC1 | c.3257T>A (p.Val1086Asp) c.12T>A n.12T>A c.2335T>A c.3308T>A (p.Val1103Asp) c.2843T>A (p.Val948Asp) | |
| 18 | g.23535690C>A | CA401791590 | NPC1 | c.3256G>T (p.Val1086Phe) c.11G>T n.11G>T c.2334G>T c.3307G>T (p.Val1103Phe) c.2842G>T (p.Val948Phe) | |
| 18 | g.23535690C>G | CA401791592 | NPC1 | c.3256G>C (p.Val1086Leu) c.11G>C n.11G>C c.2334G>C c.3307G>C (p.Val1103Leu) c.2842G>C (p.Val948Leu) | |
| 18 | g.23535690C>T | CA401791591 | NPC1 | c.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 |
| 18 | g.23535691A= | CA2290163950 | NPC1 | c.3255T= (p.Tyr1085=) c.10T= n.10T= c.2333T= c.3306T= (p.Tyr1102=) c.2841T= (p.Tyr947=) | |
| 18 | g.23535691A>C | CA401791593 | NPC1 | c.3255T>G (p.Tyr1085Ter) c.10T>G n.10T>G c.2333T>G c.3306T>G (p.Tyr1102Ter) c.2841T>G (p.Tyr947Ter) | |
| 18 | g.23535691A>G | CA8912809 | NPC1 | c.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 |
| 18 | g.23535691A>T | CA401791594 | NPC1 | c.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 |
| 18 | g.23535692_23535693del | CA2573155193 | NPC1 | c.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 |
| 18 | g.23535692T>A | CA401791595 | NPC1 | c.3254A>T (p.Tyr1085Phe) c.9A>T n.9A>T c.2332A>T c.3305A>T (p.Tyr1102Phe) c.2840A>T (p.Tyr947Phe) | |
| 18 | g.23535692T>C | CA401791596 | NPC1 | c.3254A>G (p.Tyr1085Cys) c.9A>G n.9A>G c.2332A>G c.3305A>G (p.Tyr1102Cys) c.2840A>G (p.Tyr947Cys) | |
| 18 | g.23535692T>G | CA401791597 | NPC1 | c.3254A>C (p.Tyr1085Ser) c.9A>C n.9A>C c.2332A>C c.3305A>C (p.Tyr1102Ser) c.2840A>C (p.Tyr947Ser) | |
| 18 | g.23535693A>C | CA401791598 | NPC1 | c.3253T>G (p.Tyr1085Asp) c.8T>G n.8T>G c.2331T>G c.3304T>G (p.Tyr1102Asp) c.2839T>G (p.Tyr947Asp) | |
| 18 | g.23535693A>G | CA401791599 | NPC1 | c.3253T>C (p.Tyr1085His) c.8T>C n.8T>C c.2331T>C c.3304T>C (p.Tyr1102His) c.2839T>C (p.Tyr947His) | |
| 18 | g.23535693A>T | CA401791600 | NPC1 | c.3253T>A (p.Tyr1085Asn) c.8T>A n.8T>A c.2331T>A c.3304T>A (p.Tyr1102Asn) c.2839T>A (p.Tyr947Asn) | |
| 18 | g.23535694A>C | CA401791601 | NPC1 | c.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 |
| 18 | g.23535694A>G | CA503521813 | NPC1 | c.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 |
| 18 | g.23535694A>T | CA401791602 | NPC1 | c.3252T>A (p.Phe1084Leu) c.7T>A n.7T>A c.2330T>A c.3303T>A (p.Phe1101Leu) c.2838T>A (p.Phe946Leu) | |
| 18 | g.23535695A>C | CA401791605 | NPC1 | c.3251T>G (p.Phe1084Cys) c.6T>G n.6T>G c.2329T>G c.3302T>G (p.Phe1101Cys) c.2837T>G (p.Phe946Cys) | |
| 18 | g.23535695A>G | CA401791604 | NPC1 | c.3251T>C (p.Phe1084Ser) c.6T>C n.6T>C c.2329T>C c.3302T>C (p.Phe1101Ser) c.2837T>C (p.Phe946Ser) | |
| 18 | g.23535695A>T | CA401791603 | NPC1 | c.3251T>A (p.Phe1084Tyr) c.6T>A n.6T>A c.2329T>A c.3302T>A (p.Phe1101Tyr) c.2837T>A (p.Phe946Tyr) | |
| 18 | g.23535695_23535697delinsAAC | CA2290163951 | NPC1 | c.3249_3251delinsGTT (p.Val1083=) c.4_6delinsGTT n.4_6delinsGTT c.2327_2329delinsGTT c.3300_3302delinsGTT (p.Val1100=) c.2835_2837delinsGTT (p.Val945=) | |
| 18 | g.23535696A>C | CA401791606 | NPC1 | c.3250T>G (p.Phe1084Val) c.5T>G n.5T>G c.2328T>G c.3301T>G (p.Phe1101Val) c.2836T>G (p.Phe946Val) | |
| 18 | g.23535696A>G | CA401791608 | NPC1 | c.3250T>C (p.Phe1084Leu) c.5T>C n.5T>C c.2328T>C c.3301T>C (p.Phe1101Leu) c.2836T>C (p.Phe946Leu) | |
| 18 | g.23535696A>T | CA401791607 | NPC1 | c.3250T>A (p.Phe1084Ile) c.5T>A n.5T>A c.2328T>A c.3301T>A (p.Phe1101Ile) c.2836T>A (p.Phe946Ile) |