| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23538545_23538551delinsGAGTAAACCT | CA2580095494 | NPC1 | c.3032_3038delinsAGGTTTACTC (p.Cys1011Ter) c.2110_2116delinsAGGTTTACTC n.665_671delinsAGGTTTACTC n.375_381delinsAGGTTTACTC c.3083_3089delinsAGGTTTACTC (p.Cys1028Ter) c.2618_2624delinsAGGTTTACTC (p.Cys873Ter) | ClinVar |
| 18 | g.23538551C>A | CA401792093 | NPC1 | c.3032G>T (p.Cys1011Phe) c.2110G>T n.665G>T n.375G>T c.3083G>T (p.Cys1028Phe) c.2618G>T (p.Cys873Phe) | |
| 18 | g.23538551C>G | CA401792094 | NPC1 | c.3032G>C (p.Cys1011Ser) c.2110G>C n.665G>C n.375G>C c.3083G>C (p.Cys1028Ser) c.2618G>C (p.Cys873Ser) | |
| 18 | g.23538551C>T | CA401792095 | NPC1 | c.3032G>A (p.Cys1011Tyr) c.2110G>A n.665G>A n.375G>A c.3083G>A (p.Cys1028Tyr) c.2618G>A (p.Cys873Tyr) | |
| 18 | g.23538552A= | CA2290165343 | NPC1 | c.3031T= (p.Cys1011=) c.2109T= n.664T= n.374T= c.3082T= (p.Cys1028=) c.2617T= (p.Cys873=) | |
| 18 | g.23538552A>C | CA401792096 | NPC1 | c.3031T>G (p.Cys1011Gly) c.2109T>G n.664T>G n.374T>G c.3082T>G (p.Cys1028Gly) c.2617T>G (p.Cys873Gly) | |
| 18 | g.23538552A>G | CA401792097 | NPC1 | c.3031T>C (p.Cys1011Arg) c.2109T>C n.664T>C n.374T>C c.3082T>C (p.Cys1028Arg) c.2617T>C (p.Cys873Arg) | gnomAD v4 |
| 18 | g.23538552A>T | CA8912892 | NPC1 | c.3031T>A (p.Cys1011Ser) c.2109T>A n.664T>A n.374T>A c.3082T>A (p.Cys1028Ser) c.2617T>A (p.Cys873Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23538553C>A | CA401792099 | NPC1 | c.3030G>T (p.Lys1010Asn) c.2108G>T n.663G>T n.373G>T c.3081G>T (p.Lys1027Asn) c.2616G>T (p.Lys872Asn) | |
| 18 | g.23538553C= | CA2290165344 | NPC1 | c.3030G= (p.Lys1010=) c.2108G= n.663G= n.373G= c.3081G= (p.Lys1027=) c.2616G= (p.Lys872=) | |
| 18 | g.23538553C>G | CA401792098 | NPC1 | c.3030G>C (p.Lys1010Asn) c.2108G>C n.663G>C n.373G>C c.3081G>C (p.Lys1027Asn) c.2616G>C (p.Lys872Asn) | |
| 18 | g.23538553C>T | CA8912893 | NPC1 | c.3030G>A (p.Lys1010=) c.2108G>A n.663G>A n.373G>A c.3081G>A (p.Lys1027=) c.2616G>A (p.Lys872=) | dbSNP ExAC gnomAD v2 |
| 18 | g.23538554T>A | CA401792102 | NPC1 | c.3029A>T (p.Lys1010Met) c.2107A>T n.662A>T n.372A>T c.3080A>T (p.Lys1027Met) c.2615A>T (p.Lys872Met) | |
| 18 | g.23538554T>C | CA401792100 | NPC1 | c.3029A>G (p.Lys1010Arg) c.2107A>G n.662A>G n.372A>G c.3080A>G (p.Lys1027Arg) c.2615A>G (p.Lys872Arg) | dbSNP gnomAD v4 |
| 18 | g.23538554T>G | CA401792101 | NPC1 | c.3029A>C (p.Lys1010Thr) c.2107A>C n.662A>C n.372A>C c.3080A>C (p.Lys1027Thr) c.2615A>C (p.Lys872Thr) | |
| 18 | g.23538554T= | CA2290165345 | NPC1 | c.3029A= (p.Lys1010=) c.2107A= n.662A= n.372A= c.3080A= (p.Lys1027=) c.2615A= (p.Lys872=) | |
| 18 | g.23538555T>A | CA401792103 | NPC1 | c.3028A>T (p.Lys1010Ter) c.2106A>T n.661A>T n.371A>T c.3079A>T (p.Lys1027Ter) c.2614A>T (p.Lys872Ter) | |
| 18 | g.23538555T>C | CA401792104 | NPC1 | c.3028A>G (p.Lys1010Glu) c.2106A>G n.661A>G n.371A>G c.3079A>G (p.Lys1027Glu) c.2614A>G (p.Lys872Glu) | COSMIC COSMIC |
| 18 | g.23538555T>G | CA297080679 | NPC1 | c.3028A>C (p.Lys1010Gln) c.2106A>C n.661A>C n.371A>C c.3079A>C (p.Lys1027Gln) c.2614A>C (p.Lys872Gln) | dbSNP |
| 18 | g.23538555T= | CA2290165346 | NPC1 | c.3028A= (p.Lys1010=) c.2106A= n.661A= n.371A= c.3079A= (p.Lys1027=) c.2614A= (p.Lys872=) | |
| 18 | g.23538555_23538556delinsTG | CA2290165347 | NPC1 | c.3027_3028delinsCA (p.Pro1009=) c.2105_2106delinsCA n.660_661delinsCA n.370_371delinsCA c.3078_3079delinsCA (p.Pro1026=) c.2613_2614delinsCA (p.Pro871=) | |
| 18 | g.23538556G>A | CA503322452 | NPC1 | c.3027C>T (p.Pro1009=) c.2105C>T n.660C>T n.370C>T c.3078C>T (p.Pro1026=) c.2613C>T (p.Pro871=) | |
| 18 | g.23538556G>C | CA8912894 | NPC1 | c.3027C>G (p.Pro1009=) c.2105C>G n.660C>G n.370C>G c.3078C>G (p.Pro1026=) c.2613C>G (p.Pro871=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23538556G= | CA2290165348 | NPC1 | c.3027C= (p.Pro1009=) c.2105C= n.660C= n.370C= c.3078C= (p.Pro1026=) c.2613C= (p.Pro871=) | |
| 18 | g.23538556G>T | CA503322453 | NPC1 | c.3027C>A (p.Pro1009=) c.2105C>A n.660C>A n.370C>A c.3078C>A (p.Pro1026=) c.2613C>A (p.Pro871=) | |
| 18 | g.23538559del | CA915952522 | NPC1 | c.3027del (p.Lys1010SerfsTer?) c.2105del n.660del n.370del c.3078del (p.Lys1027SerfsTer?) c.2613del (p.Lys872SerfsTer?) | ClinVar dbSNP |
| 18 | g.23538558_23538559del | CA2580095495 | NPC1 | c.3026_3027del (p.Pro1009GlnfsTer11) c.2104_2105del n.659_660del n.369_370del c.3077_3078del (p.Pro1026GlnfsTer11) c.2612_2613del (p.Pro871GlnfsTer11) | ClinVar |
| 18 | g.23538557G>A | CA401792107 | NPC1 | c.3026C>T (p.Pro1009Leu) c.2104C>T n.659C>T n.369C>T c.3077C>T (p.Pro1026Leu) c.2612C>T (p.Pro871Leu) | dbSNP |
| 18 | g.23538557G>C | CA401792105 | NPC1 | c.3026C>G (p.Pro1009Arg) c.2104C>G n.659C>G n.369C>G c.3077C>G (p.Pro1026Arg) c.2612C>G (p.Pro871Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23538557G= | CA2290165349 | NPC1 | c.3026C= (p.Pro1009=) c.2104C= n.659C= n.369C= c.3077C= (p.Pro1026=) c.2612C= (p.Pro871=) | |
| 18 | g.23538557G>T | CA401792106 | NPC1 | c.3026C>A (p.Pro1009His) c.2104C>A n.659C>A n.369C>A c.3077C>A (p.Pro1026His) c.2612C>A (p.Pro871His) | |
| 18 | g.23538558G>A | CA401792108 | NPC1 | c.3025C>T (p.Pro1009Ser) c.2103C>T n.658C>T n.368C>T c.3076C>T (p.Pro1026Ser) c.2611C>T (p.Pro871Ser) | gnomAD v4 |
| 18 | g.23538558G>C | CA401792109 | NPC1 | c.3025C>G (p.Pro1009Ala) c.2103C>G n.658C>G n.368C>G c.3076C>G (p.Pro1026Ala) c.2611C>G (p.Pro871Ala) | |
| 18 | g.23538558G>T | CA401792110 | NPC1 | c.3025C>A (p.Pro1009Thr) c.2103C>A n.658C>A n.368C>A c.3076C>A (p.Pro1026Thr) c.2611C>A (p.Pro871Thr) | |
| 18 | g.23538558_23538559insTTAG | CA777718519 | NPC1 | c.3025_3026insTAAC (p.Pro1009LeufsTer13) c.2103_2104insTAAC n.658_659insTAAC n.368_369insTAAC c.3076_3077insTAAC (p.Pro1026LeufsTer13) c.2611_2612insTAAC (p.Pro871LeufsTer13) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23538560_23538577del | CA2576470471 | NPC1 | c.3008_3025del (p.Leu1003_Asn1008del) c.2086_2103del n.641_658del n.351_368del c.3059_3076del (p.Leu1020_Asn1025del) c.2594_2611del (p.Leu865_Asn870del) | |
| 18 | g.23538559G>A | CA503322454 | NPC1 | c.3024C>T (p.Asn1008=) c.2102C>T n.657C>T n.367C>T c.3075C>T (p.Asn1025=) c.2610C>T (p.Asn870=) | ClinVar dbSNP |
| 18 | g.23538559G>C | CA401792111 | NPC1 | c.3024C>G (p.Asn1008Lys) c.2102C>G n.657C>G n.367C>G c.3075C>G (p.Asn1025Lys) c.2610C>G (p.Asn870Lys) | |
| 18 | g.23538559G>T | CA401792112 | NPC1 | c.3024C>A (p.Asn1008Lys) c.2102C>A n.657C>A n.367C>A c.3075C>A (p.Asn1025Lys) c.2610C>A (p.Asn870Lys) | |
| 18 | g.23538560T>A | CA401792113 | NPC1 | c.3023A>T (p.Asn1008Ile) c.2101A>T n.656A>T n.366A>T c.3074A>T (p.Asn1025Ile) c.2609A>T (p.Asn870Ile) | |
| 18 | g.23538560T>C | CA401792115 | NPC1 | c.3023A>G (p.Asn1008Ser) c.2101A>G n.656A>G n.366A>G c.3074A>G (p.Asn1025Ser) c.2609A>G (p.Asn870Ser) | |
| 18 | g.23538560T>G | CA401792114 | NPC1 | c.3023A>C (p.Asn1008Thr) c.2101A>C n.656A>C n.366A>C c.3074A>C (p.Asn1025Thr) c.2609A>C (p.Asn870Thr) | dbSNP |
| 18 | g.23538560T= | CA2290165350 | NPC1 | c.3023A= (p.Asn1008=) c.2101A= n.656A= n.366A= c.3074A= (p.Asn1025=) c.2609A= (p.Asn870=) | |
| 18 | g.23538561T>A | CA401792116 | NPC1 | c.3022A>T (p.Asn1008Tyr) c.2100A>T n.655A>T n.365A>T c.3073A>T (p.Asn1025Tyr) c.2608A>T (p.Asn870Tyr) | |
| 18 | g.23538561T>C | CA401792117 | NPC1 | c.3022A>G (p.Asn1008Asp) c.2100A>G n.655A>G n.365A>G c.3073A>G (p.Asn1025Asp) c.2608A>G (p.Asn870Asp) | |
| 18 | g.23538561T>G | CA401792118 | NPC1 | c.3022A>C (p.Asn1008His) c.2100A>C n.655A>C n.365A>C c.3073A>C (p.Asn1025His) c.2608A>C (p.Asn870His) | gnomAD v4 |
| 18 | g.23538562A>C | CA503322455 | NPC1 | c.3021T>G (p.Pro1007=) c.2099T>G n.654T>G n.364T>G c.3072T>G (p.Pro1024=) c.2607T>G (p.Pro869=) | |
| 18 | g.23538562A>G | CA503322456 | NPC1 | c.3021T>C (p.Pro1007=) c.2099T>C n.654T>C n.364T>C c.3072T>C (p.Pro1024=) c.2607T>C (p.Pro869=) | gnomAD v4 |
| 18 | g.23538562A>T | CA503322457 | NPC1 | c.3021T>A (p.Pro1007=) c.2099T>A n.654T>A n.364T>A c.3072T>A (p.Pro1024=) c.2607T>A (p.Pro869=) | |
| 18 | g.23538563G>A | CA8912895 | NPC1 | c.3020C>T (p.Pro1007Leu) c.2098C>T n.653C>T n.363C>T c.3071C>T (p.Pro1024Leu) c.2606C>T (p.Pro869Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |