| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23556407_23556436delinsCCTGGCTGCTGGGGGCTGACCAGAGGTCAA | CA2290173717 | NPC1 | c.1133_1162delinsTTGACCTCTGGTCAGCCCCCAGCAGCCAGG (p.Val378=) n.1047_1076delinsTTGACCTCTGGTCAGCCCCCAGCAGCCAGG c.415_444delinsTTGACCTCTGGTCAGCCCCCAGCAGCCAGG c.1184_1213delinsTTGACCTCTGGTCAGCCCCCAGCAGCCAGG (p.Val395=) c.719_748delinsTTGACCTCTGGTCAGCCCCCAGCAGCCAGG (p.Val240=) | |
| 18 | g.23556408_23556437del | CA913014963 | NPC1 | c.1133_1162del (p.Val378_Gln387del) n.1047_1076del c.415_444del c.1184_1213del (p.Val395_Gln404del) c.719_748del (p.Val240_Gln249del) | |
| 18 | g.23556412_23556440del | CA658823791 | NPC1 | c.1133_1161del (p.Val378GlyfsTer9) n.1047_1075del c.415_443del c.1184_1212del (p.Val395GlyfsTer9) c.719_747del (p.Val240GlyfsTer9) | ClinVar dbSNP gnomAD v4 |
| 18 | g.23556435A>C | CA503325158 | NPC1 | c.1134T>G (p.Val378=) n.1048T>G c.416T>G c.1185T>G (p.Val395=) c.720T>G (p.Val240=) | |
| 18 | g.23556435A>G | CA503325159 | NPC1 | c.1134T>C (p.Val378=) n.1048T>C c.416T>C c.1185T>C (p.Val395=) c.720T>C (p.Val240=) | |
| 18 | g.23556435A>T | CA503325160 | NPC1 | c.1134T>A (p.Val378=) n.1048T>A c.416T>A c.1185T>A (p.Val395=) c.720T>A (p.Val240=) | |
| 18 | g.23556436A= | CA2290173727 | NPC1 | c.1133T= (p.Val378=) n.1047T= c.415T= c.1184T= (p.Val395=) c.719T= (p.Val240=) | |
| 18 | g.23556436A>C | CA401778171 | NPC1 | c.1133T>G (p.Val378Gly) n.1047T>G c.415T>G c.1184T>G (p.Val395Gly) c.719T>G (p.Val240Gly) | gnomAD v4 |
| 18 | g.23556436A>G | CA252499 | NPC1 | c.1133T>C (p.Val378Ala) n.1047T>C c.415T>C c.1184T>C (p.Val395Ala) c.719T>C (p.Val240Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.23556436A>T | CA401778177 | NPC1 | c.1133T>A (p.Val378Asp) n.1047T>A c.415T>A c.1184T>A (p.Val395Asp) c.719T>A (p.Val240Asp) | |
| 18 | g.23556437C>A | CA8913529 | NPC1 | c.1132G>T (p.Val378Phe) n.1046G>T c.414G>T c.1183G>T (p.Val395Phe) c.718G>T (p.Val240Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23556437C= | CA2290173728 | NPC1 | c.1132G= (p.Val378=) n.1046G= c.414G= c.1183G= (p.Val395=) c.718G= (p.Val240=) | |
| 18 | g.23556437C>G | CA401778182 | NPC1 | c.1132G>C (p.Val378Leu) n.1046G>C c.414G>C c.1183G>C (p.Val395Leu) c.718G>C (p.Val240Leu) | |
| 18 | g.23556437C>T | CA401778185 | NPC1 | c.1132G>A (p.Val378Ile) n.1046G>A c.414G>A c.1183G>A (p.Val395Ile) c.718G>A (p.Val240Ile) | |
| 18 | g.23556438T>A | CA503325162 | NPC1 | c.1131A>T (p.Pro377=) n.1045A>T c.413A>T c.1182A>T (p.Pro394=) c.717A>T (p.Pro239=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23556438T>C | CA503325163 | NPC1 | c.1131A>G (p.Pro377=) n.1045A>G c.413A>G c.1182A>G (p.Pro394=) c.717A>G (p.Pro239=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23556438T>G | CA503325161 | NPC1 | c.1131A>C (p.Pro377=) n.1045A>C c.413A>C c.1182A>C (p.Pro394=) c.717A>C (p.Pro239=) | ClinVar |
| 18 | g.23556438T= | CA2290173729 | NPC1 | c.1131A= (p.Pro377=) n.1045A= c.413A= c.1182A= (p.Pro394=) c.717A= (p.Pro239=) | |
| 18 | g.23556439G>A | CA401778194 | NPC1 | c.1130C>T (p.Pro377Leu) n.1044C>T c.412C>T c.1181C>T (p.Pro394Leu) c.716C>T (p.Pro239Leu) | |
| 18 | g.23556439G>C | CA401778188 | NPC1 | c.1130C>G (p.Pro377Arg) n.1044C>G c.412C>G c.1181C>G (p.Pro394Arg) c.716C>G (p.Pro239Arg) | |
| 18 | g.23556439G>T | CA401778191 | NPC1 | c.1130C>A (p.Pro377Gln) n.1044C>A c.412C>A c.1181C>A (p.Pro394Gln) c.716C>A (p.Pro239Gln) | |
| 18 | g.23556440del | CA2695227253 | NPC1 | c.1130del (p.Pro377GlnfsTer?) n.1044del c.412del c.1181del (p.Pro394GlnfsTer?) c.716del (p.Pro239GlnfsTer?) | |
| 18 | g.23556440G>A | CA401778198 | NPC1 | c.1129C>T (p.Pro377Ser) n.1043C>T c.411C>T c.1180C>T (p.Pro394Ser) c.715C>T (p.Pro239Ser) | ClinVar |
| 18 | g.23556440G>C | CA401778200 | NPC1 | c.1129C>G (p.Pro377Ala) n.1043C>G c.411C>G c.1180C>G (p.Pro394Ala) c.715C>G (p.Pro239Ala) | |
| 18 | g.23556440G>T | CA401778203 | NPC1 | c.1129C>A (p.Pro377Thr) n.1043C>A c.411C>A c.1180C>A (p.Pro394Thr) c.715C>A (p.Pro239Thr) | |
| 18 | g.23556441A>C | CA401778207 | NPC1 | c.1128T>G (p.Asn376Lys) n.1042T>G c.410T>G c.1179T>G (p.Asn393Lys) c.714T>G (p.Asn238Lys) | |
| 18 | g.23556441A>G | CA503325164 | NPC1 | c.1128T>C (p.Asn376=) n.1042T>C c.410T>C c.1179T>C (p.Asn393=) c.714T>C (p.Asn238=) | gnomAD v4 |
| 18 | g.23556441A>T | CA401778209 | NPC1 | c.1128T>A (p.Asn376Lys) n.1042T>A c.410T>A c.1179T>A (p.Asn393Lys) c.714T>A (p.Asn238Lys) | |
| 18 | g.23556442T>A | CA401778210 | NPC1 | c.1127A>T (p.Asn376Ile) n.1041A>T c.409A>T c.1178A>T (p.Asn393Ile) c.713A>T (p.Asn238Ile) | gnomAD v4 |
| 18 | g.23556442T>C | CA401778211 | NPC1 | c.1127A>G (p.Asn376Ser) n.1041A>G c.409A>G c.1178A>G (p.Asn393Ser) c.713A>G (p.Asn238Ser) | gnomAD v4 |
| 18 | g.23556442T>G | CA401778212 | NPC1 | c.1127A>C (p.Asn376Thr) n.1041A>C c.409A>C c.1178A>C (p.Asn393Thr) c.713A>C (p.Asn238Thr) | |
| 18 | g.23556443T>A | CA401778214 | NPC1 | c.1126A>T (p.Asn376Tyr) n.1040A>T c.408A>T c.1177A>T (p.Asn393Tyr) c.712A>T (p.Asn238Tyr) | |
| 18 | g.23556443T>C | CA8913530 | NPC1 | c.1126A>G (p.Asn376Asp) n.1040A>G c.408A>G c.1177A>G (p.Asn393Asp) c.712A>G (p.Asn238Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23556443T>G | CA401778221 | NPC1 | c.1126A>C (p.Asn376His) n.1040A>C c.408A>C c.1177A>C (p.Asn393His) c.712A>C (p.Asn238His) | gnomAD v4 |
| 18 | g.23556443T= | CA2290173730 | NPC1 | c.1126A= (p.Asn376=) n.1040A= c.408A= c.1177A= (p.Asn393=) c.712A= (p.Asn238=) | |
| 18 | g.23556444G>A | CA503325165 | NPC1 | c.1125C>T (p.Thr375=) n.1039C>T c.407C>T c.1176C>T (p.Thr392=) c.711C>T (p.Thr237=) | |
| 18 | g.23556444G>C | CA503325166 | NPC1 | c.1125C>G (p.Thr375=) n.1039C>G c.407C>G c.1176C>G (p.Thr392=) c.711C>G (p.Thr237=) | |
| 18 | g.23556444G>T | CA503325167 | NPC1 | c.1125C>A (p.Thr375=) n.1039C>A c.407C>A c.1176C>A (p.Thr392=) c.711C>A (p.Thr237=) | |
| 18 | g.23556445G>A | CA401778229 | NPC1 | c.1124C>T (p.Thr375Ile) n.1038C>T c.406C>T c.1175C>T (p.Thr392Ile) c.710C>T (p.Thr237Ile) | |
| 18 | g.23556445G>C | CA401778231 | NPC1 | c.1124C>G (p.Thr375Ser) n.1038C>G c.406C>G c.1175C>G (p.Thr392Ser) c.710C>G (p.Thr237Ser) | |
| 18 | g.23556445G>T | CA401778226 | NPC1 | c.1124C>A (p.Thr375Asn) n.1038C>A c.406C>A c.1175C>A (p.Thr392Asn) c.710C>A (p.Thr237Asn) | |
| 18 | g.23556446T>A | CA401778235 | NPC1 | c.1123A>T (p.Thr375Ser) n.1037A>T c.405A>T c.1174A>T (p.Thr392Ser) c.709A>T (p.Thr237Ser) | |
| 18 | g.23556446T>C | CA8913531 | NPC1 | c.1123A>G (p.Thr375Ala) n.1037A>G c.405A>G c.1174A>G (p.Thr392Ala) c.709A>G (p.Thr237Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23556446T>G | CA401778240 | NPC1 | c.1123A>C (p.Thr375Pro) n.1037A>C c.405A>C c.1174A>C (p.Thr392Pro) c.709A>C (p.Thr237Pro) | |
| 18 | g.23556446T= | CA2290173731 | NPC1 | c.1123A= (p.Thr375=) n.1037A= c.405A= c.1174A= (p.Thr392=) c.709A= (p.Thr237=) | |
| 18 | g.23556447T>A | CA503325168 | NPC1 | c.1122A>T (p.Thr374=) n.1036A>T c.404A>T c.1173A>T (p.Thr391=) c.708A>T (p.Thr236=) | |
| 18 | g.23556447T>C | CA503325169 | NPC1 | c.1122A>G (p.Thr374=) n.1036A>G c.404A>G c.1173A>G (p.Thr391=) c.708A>G (p.Thr236=) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23556447T>G | CA503325170 | NPC1 | c.1122A>C (p.Thr374=) n.1036A>C c.404A>C c.1173A>C (p.Thr391=) c.708A>C (p.Thr236=) | |
| 18 | g.23556447T= | CA2290173732 | NPC1 | c.1122A= (p.Thr374=) n.1036A= c.404A= c.1173A= (p.Thr391=) c.708A= (p.Thr236=) | |
| 18 | g.23556449_23556472dup | CA2641274350 | NPC1 | c.1099_1122dup (p.Thr374_Thr375insGlyLeuValPheValArgValThr) n.1013_1036dup c.381_404dup c.1150_1173dup (p.Thr391_Thr392insGlyLeuValPheValArgValThr) c.685_708dup (p.Thr236_Thr237insGlyLeuValPheValArgValThr) | gnomAD v4 |