| 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.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.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.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) |