| 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.23535474_23535486delinsCCAGGTTGACCAA | CA2290163844 | NPC1 | c.3460_3472delinsTTGGTCAACCTGG (p.Leu1154=) c.215_227delinsTTGGTCAACCTGG n.215_227delinsTTGGTCAACCTGG c.2538_2550delinsTTGGTCAACCTGG c.137_149delinsTTGGTCAACCTGG c.3511_3523delinsTTGGTCAACCTGG (p.Leu1171=) c.3046_3058delinsTTGGTCAACCTGG (p.Leu1016=) | |
| 18 | g.23535475_23535486del | CA1139665976 | NPC1 | c.3460_3471del (p.Leu1154_Leu1157del) c.215_226del n.215_226del c.2538_2549del c.137_148del c.3511_3522del (p.Leu1171_Leu1174del) c.3046_3057del (p.Leu1016_Leu1019del) | ClinVar dbSNP |
| 18 | g.23535479T>A | CA401791138 | NPC1 | c.3467A>T (p.Asn1156Ile) c.222A>T n.222A>T c.2545A>T c.144A>T c.3518A>T (p.Asn1173Ile) c.3053A>T (p.Asn1018Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23535479T>C | CA252497 | NPC1 | c.3467A>G (p.Asn1156Ser) c.222A>G n.222A>G c.2545A>G c.144A>G c.3518A>G (p.Asn1173Ser) c.3053A>G (p.Asn1018Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23535479T>G | CA401791139 | NPC1 | c.3467A>C (p.Asn1156Thr) c.222A>C n.222A>C c.2545A>C c.144A>C c.3518A>C (p.Asn1173Thr) c.3053A>C (p.Asn1018Thr) | gnomAD v4 |
| 18 | g.23535479T= | CA2290163847 | NPC1 | c.3467A= (p.Asn1156=) c.222A= n.222A= c.2545A= c.144A= c.3518A= (p.Asn1173=) c.3053A= (p.Asn1018=) | |
| 18 | g.23535480T>A | CA401791140 | NPC1 | c.3466A>T (p.Asn1156Tyr) c.221A>T n.221A>T c.2544A>T c.143A>T c.3517A>T (p.Asn1173Tyr) c.3052A>T (p.Asn1018Tyr) | |
| 18 | g.23535480T>C | CA8912771 | NPC1 | c.3466A>G (p.Asn1156Asp) c.221A>G n.221A>G c.2544A>G c.143A>G c.3517A>G (p.Asn1173Asp) c.3052A>G (p.Asn1018Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23535480T>G | CA401791141 | NPC1 | c.3466A>C (p.Asn1156His) c.221A>C n.221A>C c.2544A>C c.143A>C c.3517A>C (p.Asn1173His) c.3052A>C (p.Asn1018His) | |
| 18 | g.23535480T= | CA2290163848 | NPC1 | c.3466A= (p.Asn1156=) c.221A= n.221A= c.2544A= c.143A= c.3517A= (p.Asn1173=) c.3052A= (p.Asn1018=) | |
| 18 | g.23535481G>A | CA503521649 | NPC1 | c.3465C>T (p.Val1155=) c.220C>T n.220C>T c.2543C>T c.142C>T c.3516C>T (p.Val1172=) c.3051C>T (p.Val1017=) | gnomAD v4 |
| 18 | g.23535481G>C | CA503521650 | NPC1 | c.3465C>G (p.Val1155=) c.220C>G n.220C>G c.2543C>G c.142C>G c.3516C>G (p.Val1172=) c.3051C>G (p.Val1017=) | |
| 18 | g.23535481G>T | CA503521651 | NPC1 | c.3465C>A (p.Val1155=) c.220C>A n.220C>A c.2543C>A c.142C>A c.3516C>A (p.Val1172=) c.3051C>A (p.Val1017=) | |
| 18 | g.23535482A>C | CA401791142 | NPC1 | c.3464T>G (p.Val1155Gly) c.219T>G n.219T>G c.2542T>G c.141T>G c.3515T>G (p.Val1172Gly) c.3050T>G (p.Val1017Gly) | |
| 18 | g.23535482A>G | CA401791143 | NPC1 | c.3464T>C (p.Val1155Ala) c.219T>C n.219T>C c.2542T>C c.141T>C c.3515T>C (p.Val1172Ala) c.3050T>C (p.Val1017Ala) | |
| 18 | g.23535482A>T | CA401791144 | NPC1 | c.3464T>A (p.Val1155Asp) c.219T>A n.219T>A c.2542T>A c.141T>A c.3515T>A (p.Val1172Asp) c.3050T>A (p.Val1017Asp) | |
| 18 | g.23535483C>A | CA401791146 | NPC1 | c.3463G>T (p.Val1155Phe) c.218G>T n.218G>T c.2541G>T c.140G>T c.3514G>T (p.Val1172Phe) c.3049G>T (p.Val1017Phe) | |
| 18 | g.23535483C= | CA2290163849 | NPC1 | c.3463G= (p.Val1155=) c.218G= n.218G= c.2541G= c.140G= c.3514G= (p.Val1172=) c.3049G= (p.Val1017=) | |
| 18 | g.23535483C>G | CA401791145 | NPC1 | c.3463G>C (p.Val1155Leu) c.218G>C n.218G>C c.2541G>C c.140G>C c.3514G>C (p.Val1172Leu) c.3049G>C (p.Val1017Leu) | |
| 18 | g.23535483C>T | CA8912772 | NPC1 | c.3463G>A (p.Val1155Ile) c.218G>A n.218G>A c.2541G>A c.140G>A c.3514G>A (p.Val1172Ile) c.3049G>A (p.Val1017Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23535484C>A | CA401791147 | NPC1 | c.3462G>T (p.Leu1154Phe) c.217G>T n.217G>T c.2540G>T c.139G>T c.3513G>T (p.Leu1171Phe) c.3048G>T (p.Leu1016Phe) | gnomAD v4 |
| 18 | g.23535484C>G | CA401791148 | NPC1 | c.3462G>C (p.Leu1154Phe) c.217G>C n.217G>C c.2540G>C c.139G>C c.3513G>C (p.Leu1171Phe) c.3048G>C (p.Leu1016Phe) | |
| 18 | g.23535484C>T | CA503521652 | NPC1 | c.3462G>A (p.Leu1154=) c.217G>A n.217G>A c.2540G>A c.139G>A c.3513G>A (p.Leu1171=) c.3048G>A (p.Leu1016=) | |
| 18 | g.23535485A= | CA2290163850 | NPC1 | c.3461T= (p.Leu1154=) c.216T= n.216T= c.2539T= c.138T= c.3512T= (p.Leu1171=) c.3047T= (p.Leu1016=) | |
| 18 | g.23535485A>C | CA401791149 | NPC1 | c.3461T>G (p.Leu1154Trp) c.216T>G n.216T>G c.2539T>G c.138T>G c.3512T>G (p.Leu1171Trp) c.3047T>G (p.Leu1016Trp) | |
| 18 | g.23535485A>G | CA401791150 | NPC1 | c.3461T>C (p.Leu1154Ser) c.216T>C n.216T>C c.2539T>C c.138T>C c.3512T>C (p.Leu1171Ser) c.3047T>C (p.Leu1016Ser) | |
| 18 | g.23535485A>T | CA401791151 | NPC1 | c.3461T>A (p.Leu1154Ter) c.216T>A n.216T>A c.2539T>A c.138T>A c.3512T>A (p.Leu1171Ter) c.3047T>A (p.Leu1016Ter) | ClinVar dbSNP |
| 18 | g.23535486A= | CA2290163851 | NPC1 | c.3460T= (p.Leu1154=) c.215T= n.215T= c.2538T= c.137T= c.3511T= (p.Leu1171=) c.3046T= (p.Leu1016=) | |
| 18 | g.23535486A>C | CA401791152 | NPC1 | c.3460T>G (p.Leu1154Val) c.215T>G n.215T>G c.2538T>G c.137T>G c.3511T>G (p.Leu1171Val) c.3046T>G (p.Leu1016Val) | |
| 18 | g.23535486A>G | CA503521653 | NPC1 | c.3460T>C (p.Leu1154=) c.215T>C n.215T>C c.2538T>C c.137T>C c.3511T>C (p.Leu1171=) c.3046T>C (p.Leu1016=) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.23535486A>T | CA401791153 | NPC1 | c.3460T>A (p.Leu1154Met) c.215T>A n.215T>A c.2538T>A c.137T>A c.3511T>A (p.Leu1171Met) c.3046T>A (p.Leu1016Met) | |
| 18 | g.23535487G>A | CA503521654 | NPC1 | c.3459C>T (p.Ser1153=) c.214C>T n.214C>T c.2537C>T c.136C>T c.3510C>T (p.Ser1170=) c.3045C>T (p.Ser1015=) | |
| 18 | g.23535487G>C | CA503521655 | NPC1 | c.3459C>G (p.Ser1153=) c.214C>G n.214C>G c.2537C>G c.136C>G c.3510C>G (p.Ser1170=) c.3045C>G (p.Ser1015=) | |
| 18 | g.23535487G= | CA2290163852 | NPC1 | c.3459C= (p.Ser1153=) c.214C= n.214C= c.2537C= c.136C= c.3510C= (p.Ser1170=) c.3045C= (p.Ser1015=) | |
| 18 | g.23535487G>T | CA503521656 | NPC1 | c.3459C>A (p.Ser1153=) c.214C>A n.214C>A c.2537C>A c.136C>A c.3510C>A (p.Ser1170=) c.3045C>A (p.Ser1015=) | |
| 18 | g.23535488G>A | CA401791154 | NPC1 | c.3458C>T (p.Ser1153Phe) c.213C>T n.213C>T c.2536C>T c.135C>T c.3509C>T (p.Ser1170Phe) c.3044C>T (p.Ser1015Phe) | |
| 18 | g.23535488G>C | CA401791155 | NPC1 | c.3458C>G (p.Ser1153Cys) c.213C>G n.213C>G c.2536C>G c.135C>G c.3509C>G (p.Ser1170Cys) c.3044C>G (p.Ser1015Cys) | |
| 18 | g.23535488G>T | CA401791156 | NPC1 | c.3458C>A (p.Ser1153Tyr) c.213C>A n.213C>A c.2536C>A c.135C>A c.3509C>A (p.Ser1170Tyr) c.3044C>A (p.Ser1015Tyr) | |
| 18 | g.23535488_23535489dup | CA628978705 | NPC1 | c.3457_3458dup (p.Leu1154ProfsTer6) c.212_213dup n.212_213dup c.2535_2536dup c.134_135dup c.3508_3509dup (p.Leu1171ProfsTer6) c.3043_3044dup (p.Leu1016ProfsTer6) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.23535489A>C | CA401791157 | NPC1 | c.3457T>G (p.Ser1153Ala) c.212T>G n.212T>G c.2535T>G c.134T>G c.3508T>G (p.Ser1170Ala) c.3043T>G (p.Ser1015Ala) | |
| 18 | g.23535489A>G | CA401791158 | NPC1 | c.3457T>C (p.Ser1153Pro) c.212T>C n.212T>C c.2535T>C c.134T>C c.3508T>C (p.Ser1170Pro) c.3043T>C (p.Ser1015Pro) | |
| 18 | g.23535489A>T | CA401791159 | NPC1 | c.3457T>A (p.Ser1153Thr) c.212T>A n.212T>A c.2535T>A c.134T>A c.3508T>A (p.Ser1170Thr) c.3043T>A (p.Ser1015Thr) | |
| 18 | g.23535490T>A | CA503521657 | NPC1 | c.3456A>T (p.Val1152=) c.211A>T n.211A>T c.2534A>T c.133A>T c.3507A>T (p.Val1169=) c.3042A>T (p.Val1014=) | |
| 18 | g.23535490T>C | CA503521659 | NPC1 | c.3456A>G (p.Val1152=) c.211A>G n.211A>G c.2534A>G c.133A>G c.3507A>G (p.Val1169=) c.3042A>G (p.Val1014=) | ClinVar dbSNP gnomAD v4 |
| 18 | g.23535490T>G | CA503521658 | NPC1 | c.3456A>C (p.Val1152=) c.211A>C n.211A>C c.2534A>C c.133A>C c.3507A>C (p.Val1169=) c.3042A>C (p.Val1014=) | |
| 18 | g.23535490T= | CA2290163853 | NPC1 | c.3456A= (p.Val1152=) c.211A= n.211A= c.2534A= c.133A= c.3507A= (p.Val1169=) c.3042A= (p.Val1014=) | |
| 18 | g.23535491A>C | CA401791162 | NPC1 | c.3455T>G (p.Val1152Gly) c.210T>G n.210T>G c.2533T>G c.132T>G c.3506T>G (p.Val1169Gly) c.3041T>G (p.Val1014Gly) | |
| 18 | g.23535491A>G | CA401791161 | NPC1 | c.3455T>C (p.Val1152Ala) c.210T>C n.210T>C c.2533T>C c.132T>C c.3506T>C (p.Val1169Ala) c.3041T>C (p.Val1014Ala) | gnomAD v4 |
| 18 | g.23535491A>T | CA401791160 | NPC1 | c.3455T>A (p.Val1152Glu) c.210T>A n.210T>A c.2533T>A c.132T>A c.3506T>A (p.Val1169Glu) c.3041T>A (p.Val1014Glu) |