| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23556311_23556318dup | CA2739268558 | NPC1 | c.1253_1260dup (p.Gln421ThrfsTer31) n.1167_1174dup c.535_542dup c.1304_1311dup (p.Gln438ThrfsTer31) c.839_846dup (p.Gln283ThrfsTer31) | ClinVar |
| 18 | g.23556314T>A | CA8913508 | NPC1 | c.1255A>T (p.Ile419Phe) n.1169A>T c.537A>T c.1306A>T (p.Ile436Phe) c.841A>T (p.Ile281Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23556314T>C | CA8913509 | NPC1 | c.1255A>G (p.Ile419Val) n.1169A>G c.537A>G c.1306A>G (p.Ile436Val) c.841A>G (p.Ile281Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23556314T>G | CA401777392 | NPC1 | c.1255A>C (p.Ile419Leu) n.1169A>C c.537A>C c.1306A>C (p.Ile436Leu) c.841A>C (p.Ile281Leu) | |
| 18 | g.23556314T= | CA2290173675 | NPC1 | c.1255A= (p.Ile419=) n.1169A= c.537A= c.1306A= (p.Ile436=) c.841A= (p.Ile281=) | |
| 18 | g.23556315G>A | CA503325087 | NPC1 | c.1254C>T (p.His418=) n.1168C>T c.536C>T c.1305C>T (p.His435=) c.840C>T (p.His280=) | ClinVar |
| 18 | g.23556315G>C | CA401777395 | NPC1 | c.1254C>G (p.His418Gln) n.1168C>G c.536C>G c.1305C>G (p.His435Gln) c.840C>G (p.His280Gln) | |
| 18 | g.23556315G>T | CA401777398 | NPC1 | c.1254C>A (p.His418Gln) n.1168C>A c.536C>A c.1305C>A (p.His435Gln) c.840C>A (p.His280Gln) | |
| 18 | g.23556315_23556319delinsGTGTT | CA2290173676 | NPC1 | c.1250_1254delinsAACAC (p.Lys417=) n.1164_1168delinsAACAC c.532_536delinsAACAC c.1301_1305delinsAACAC (p.Lys434=) c.836_840delinsAACAC (p.Lys279=) | |
| 18 | g.23556316T>A | CA401777402 | NPC1 | c.1253A>T (p.His418Leu) n.1167A>T c.535A>T c.1304A>T (p.His435Leu) c.839A>T (p.His280Leu) | |
| 18 | g.23556316T>C | CA401777404 | NPC1 | c.1253A>G (p.His418Arg) n.1167A>G c.535A>G c.1304A>G (p.His435Arg) c.839A>G (p.His280Arg) | dbSNP |
| 18 | g.23556316T>G | CA401777406 | NPC1 | c.1253A>C (p.His418Pro) n.1167A>C c.535A>C c.1304A>C (p.His435Pro) c.839A>C (p.His280Pro) | |
| 18 | g.23556316T= | CA2290173677 | NPC1 | c.1253A= (p.His418=) n.1167A= c.535A= c.1304A= (p.His435=) c.839A= (p.His280=) | |
| 18 | g.23556319_23556322del | CA916083632 | NPC1 | c.1250_1253del (p.Lys417ThrfsTer?) n.1164_1167del c.532_535del c.1301_1304del (p.Lys434ThrfsTer?) c.836_839del (p.Lys279ThrfsTer?) | ClinVar dbSNP |
| 18 | g.23556317G>A | CA401777409 | NPC1 | c.1252C>T (p.His418Tyr) n.1166C>T c.534C>T c.1303C>T (p.His435Tyr) c.838C>T (p.His280Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23556317G>C | CA401777411 | NPC1 | c.1252C>G (p.His418Asp) n.1166C>G c.534C>G c.1303C>G (p.His435Asp) c.838C>G (p.His280Asp) | |
| 18 | g.23556317G= | CA2290173678 | NPC1 | c.1252C= (p.His418=) n.1166C= c.534C= c.1303C= (p.His435=) c.838C= (p.His280=) | |
| 18 | g.23556317G>T | CA401777413 | NPC1 | c.1252C>A (p.His418Asn) n.1166C>A c.534C>A c.1303C>A (p.His435Asn) c.838C>A (p.His280Asn) | COSMIC COSMIC |
| 18 | g.23556318T>A | CA401777416 | NPC1 | c.1251A>T (p.Lys417Asn) n.1165A>T c.533A>T c.1302A>T (p.Lys434Asn) c.837A>T (p.Lys279Asn) | |
| 18 | g.23556318T>C | CA503325088 | NPC1 | c.1251A>G (p.Lys417=) n.1165A>G c.533A>G c.1302A>G (p.Lys434=) c.837A>G (p.Lys279=) | |
| 18 | g.23556318T>G | CA401777419 | NPC1 | c.1251A>C (p.Lys417Asn) n.1165A>C c.533A>C c.1302A>C (p.Lys434Asn) c.837A>C (p.Lys279Asn) | |
| 18 | g.23556320dup | CA2641274082 | NPC1 | c.1251dup (p.His418ThrfsTer11) n.1165dup c.533dup c.1302dup (p.His435ThrfsTer11) c.837dup (p.His280ThrfsTer11) | gnomAD v4 |
| 18 | g.23556319T>A | CA401777426 | NPC1 | c.1250A>T (p.Lys417Ile) n.1164A>T c.532A>T c.1301A>T (p.Lys434Ile) c.836A>T (p.Lys279Ile) | |
| 18 | g.23556319T>C | CA401777422 | NPC1 | c.1250A>G (p.Lys417Arg) n.1164A>G c.532A>G c.1301A>G (p.Lys434Arg) c.836A>G (p.Lys279Arg) | |
| 18 | g.23556319T>G | CA401777424 | NPC1 | c.1250A>C (p.Lys417Thr) n.1164A>C c.532A>C c.1301A>C (p.Lys434Thr) c.836A>C (p.Lys279Thr) | |
| 18 | g.23556320T>A | CA401777428 | NPC1 | c.1249A>T (p.Lys417Ter) n.1163A>T c.531A>T c.1300A>T (p.Lys434Ter) c.835A>T (p.Lys279Ter) | dbSNP |
| 18 | g.23556320T>C | CA401777431 | NPC1 | c.1249A>G (p.Lys417Glu) n.1163A>G c.531A>G c.1300A>G (p.Lys434Glu) c.835A>G (p.Lys279Glu) | |
| 18 | g.23556320T>G | CA401777433 | NPC1 | c.1249A>C (p.Lys417Gln) n.1163A>C c.531A>C c.1300A>C (p.Lys434Gln) c.835A>C (p.Lys279Gln) | |
| 18 | g.23556320T= | CA2290173679 | NPC1 | c.1249A= (p.Lys417=) n.1163A= c.531A= c.1300A= (p.Lys434=) c.835A= (p.Lys279=) | |
| 18 | g.23556321G>A | CA503325089 | NPC1 | c.1248C>T (p.Asp416=) n.1162C>T c.530C>T c.1299C>T (p.Asp433=) c.834C>T (p.Asp278=) | gnomAD v4 |
| 18 | g.23556321G>C | CA401777436 | NPC1 | c.1248C>G (p.Asp416Glu) n.1162C>G c.530C>G c.1299C>G (p.Asp433Glu) c.834C>G (p.Asp278Glu) | ClinVar dbSNP gnomAD v4 |
| 18 | g.23556321G>T | CA401777438 | NPC1 | c.1248C>A (p.Asp416Glu) n.1162C>A c.530C>A c.1299C>A (p.Asp433Glu) c.834C>A (p.Asp278Glu) | |
| 18 | g.23556322T>A | CA401777440 | NPC1 | c.1247A>T (p.Asp416Val) n.1161A>T c.529A>T c.1298A>T (p.Asp433Val) c.833A>T (p.Asp278Val) | |
| 18 | g.23556322T>C | CA8913510 | NPC1 | c.1247A>G (p.Asp416Gly) n.1161A>G c.529A>G c.1298A>G (p.Asp433Gly) c.833A>G (p.Asp278Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23556322T>G | CA401777444 | NPC1 | c.1247A>C (p.Asp416Ala) n.1161A>C c.529A>C c.1298A>C (p.Asp433Ala) c.833A>C (p.Asp278Ala) | |
| 18 | g.23556322T= | CA2290173680 | NPC1 | c.1247A= (p.Asp416=) n.1161A= c.529A= c.1298A= (p.Asp433=) c.833A= (p.Asp278=) | |
| 18 | g.23556323C>A | CA401777447 | NPC1 | c.1246G>T (p.Asp416Tyr) n.1160G>T c.528G>T c.1297G>T (p.Asp433Tyr) c.832G>T (p.Asp278Tyr) | |
| 18 | g.23556323C>G | CA401777449 | NPC1 | c.1246G>C (p.Asp416His) n.1160G>C c.528G>C c.1297G>C (p.Asp433His) c.832G>C (p.Asp278His) | |
| 18 | g.23556323C>T | CA401777451 | NPC1 | c.1246G>A (p.Asp416Asn) n.1160G>A c.528G>A c.1297G>A (p.Asp433Asn) c.832G>A (p.Asp278Asn) | gnomAD v4 |
| 18 | g.23556324A>C | CA503325090 | NPC1 | c.1245T>G (p.Thr415=) n.1159T>G c.527T>G c.1296T>G (p.Thr432=) c.831T>G (p.Thr277=) | |
| 18 | g.23556324A>G | CA503325091 | NPC1 | c.1245T>C (p.Thr415=) n.1159T>C c.527T>C c.1296T>C (p.Thr432=) c.831T>C (p.Thr277=) | |
| 18 | g.23556324A>T | CA503325092 | NPC1 | c.1245T>A (p.Thr415=) n.1159T>A c.527T>A c.1296T>A (p.Thr432=) c.831T>A (p.Thr277=) | |
| 18 | g.23556325G>A | CA401777457 | NPC1 | c.1244C>T (p.Thr415Ile) n.1158C>T c.526C>T c.1295C>T (p.Thr432Ile) c.830C>T (p.Thr277Ile) | |
| 18 | g.23556325G>C | CA401777455 | NPC1 | c.1244C>G (p.Thr415Ser) n.1158C>G c.526C>G c.1295C>G (p.Thr432Ser) c.830C>G (p.Thr277Ser) | |
| 18 | g.23556325G>T | CA401777454 | NPC1 | c.1244C>A (p.Thr415Asn) n.1158C>A c.526C>A c.1295C>A (p.Thr432Asn) c.830C>A (p.Thr277Asn) | |
| 18 | g.23556326T>A | CA401777460 | NPC1 | c.1243A>T (p.Thr415Ser) n.1157A>T c.525A>T c.1294A>T (p.Thr432Ser) c.829A>T (p.Thr277Ser) | |
| 18 | g.23556326T>C | CA401777464 | NPC1 | c.1243A>G (p.Thr415Ala) n.1157A>G c.525A>G c.1294A>G (p.Thr432Ala) c.829A>G (p.Thr277Ala) | gnomAD v4 |
| 18 | g.23556326T>G | CA401777462 | NPC1 | c.1243A>C (p.Thr415Pro) n.1157A>C c.525A>C c.1294A>C (p.Thr432Pro) c.829A>C (p.Thr277Pro) | |
| 18 | g.23556327G>A | CA503325093 | NPC1 | c.1242C>T (p.Leu414=) n.1156C>T c.524C>T c.1293C>T (p.Leu431=) c.828C>T (p.Leu276=) | gnomAD v4 |
| 18 | g.23556327G>C | CA503325094 | NPC1 | c.1242C>G (p.Leu414=) n.1156C>G c.524C>G c.1293C>G (p.Leu431=) c.828C>G (p.Leu276=) | |
| 18 | g.23556327G>T | CA503325095 | NPC1 | c.1242C>A (p.Leu414=) n.1156C>A c.524C>A c.1293C>A (p.Leu431=) c.828C>A (p.Leu276=) | |
| 18 | g.23556330_23556331del | CA2695227248 | NPC1 | c.1241_1242del (p.Leu414HisfsTer2) n.1155_1156del c.523_524del c.1292_1293del (p.Leu431HisfsTer2) c.827_828del (p.Leu276HisfsTer2) | |
| 18 | g.23556328A>C | CA401777467 | NPC1 | c.1241T>G (p.Leu414Arg) n.1155T>G c.523T>G c.1292T>G (p.Leu431Arg) c.827T>G (p.Leu276Arg) | |
| 18 | g.23556328A>G | CA401777470 | NPC1 | c.1241T>C (p.Leu414Pro) n.1155T>C c.523T>C c.1292T>C (p.Leu431Pro) c.827T>C (p.Leu276Pro) | |
| 18 | g.23556328A>T | CA401777472 | NPC1 | c.1241T>A (p.Leu414His) n.1155T>A c.523T>A c.1292T>A (p.Leu431His) c.827T>A (p.Leu276His) | |
| 18 | g.23556329G>A | CA401777476 | NPC1 | c.1240C>T (p.Leu414Phe) n.1154C>T c.522C>T c.1291C>T (p.Leu431Phe) c.826C>T (p.Leu276Phe) | |
| 18 | g.23556329G>C | CA401777477 | NPC1 | c.1240C>G (p.Leu414Val) n.1154C>G c.522C>G c.1291C>G (p.Leu431Val) c.826C>G (p.Leu276Val) | |
| 18 | g.23556329G>T | CA401777480 | NPC1 | c.1240C>A (p.Leu414Ile) n.1154C>A c.522C>A c.1291C>A (p.Leu431Ile) c.826C>A (p.Leu276Ile) | |
| 18 | g.23556330A>C | CA503325098 | NPC1 | c.1239T>G (p.Pro413=) n.1153T>G c.521T>G c.1290T>G (p.Pro430=) c.825T>G (p.Pro275=) | dbSNP |
| 18 | g.23556330A>G | CA503325096 | NPC1 | c.1239T>C (p.Pro413=) n.1153T>C c.521T>C c.1290T>C (p.Pro430=) c.825T>C (p.Pro275=) | |
| 18 | g.23556330A>T | CA503325097 | NPC1 | c.1239T>A (p.Pro413=) n.1153T>A c.521T>A c.1290T>A (p.Pro430=) c.825T>A (p.Pro275=) | |
| 18 | g.23556331G>A | CA401777483 | NPC1 | c.1238C>T (p.Pro413Leu) n.1152C>T c.520C>T c.1289C>T (p.Pro430Leu) c.824C>T (p.Pro275Leu) | gnomAD v4 |
| 18 | g.23556331G>C | CA401777486 | NPC1 | c.1238C>G (p.Pro413Arg) n.1152C>G c.520C>G c.1289C>G (p.Pro430Arg) c.824C>G (p.Pro275Arg) | gnomAD v4 |
| 18 | g.23556331G>T | CA401777488 | NPC1 | c.1238C>A (p.Pro413His) n.1152C>A c.520C>A c.1289C>A (p.Pro430His) c.824C>A (p.Pro275His) | |
| 18 | g.23556334dup | CA2580095674 | NPC1 | c.1238dup (p.Leu414SerfsTer3) n.1152dup c.520dup c.1289dup (p.Leu431SerfsTer3) c.824dup (p.Leu276SerfsTer3) | ClinVar gnomAD v4 |
| 18 | g.23556332G>A | CA401777491 | NPC1 | c.1237C>T (p.Pro413Ser) n.1151C>T c.519C>T c.1288C>T (p.Pro430Ser) c.823C>T (p.Pro275Ser) | |
| 18 | g.23556332G>C | CA401777493 | NPC1 | c.1237C>G (p.Pro413Ala) n.1151C>G c.519C>G c.1288C>G (p.Pro430Ala) c.823C>G (p.Pro275Ala) | gnomAD v4 |
| 18 | g.23556332G>T | CA401777496 | NPC1 | c.1237C>A (p.Pro413Thr) n.1151C>A c.519C>A c.1288C>A (p.Pro430Thr) c.823C>A (p.Pro275Thr) | |
| 18 | g.23556333G>A | CA503325099 | NPC1 | c.1236C>T (p.Ala412=) n.1150C>T c.518C>T c.1287C>T (p.Ala429=) c.822C>T (p.Ala274=) | |
| 18 | g.23556333G>C | CA503325100 | NPC1 | c.1236C>G (p.Ala412=) n.1150C>G c.518C>G c.1287C>G (p.Ala429=) c.822C>G (p.Ala274=) | dbSNP |
| 18 | g.23556333G= | CA2290173681 | NPC1 | c.1236C= (p.Ala412=) n.1150C= c.518C= c.1287C= (p.Ala429=) c.822C= (p.Ala274=) | |
| 18 | g.23556333G>T | CA503325101 | NPC1 | c.1236C>A (p.Ala412=) n.1150C>A c.518C>A c.1287C>A (p.Ala429=) c.822C>A (p.Ala274=) | |
| 18 | g.23556334G>A | CA401777502 | NPC1 | c.1235C>T (p.Ala412Val) n.1149C>T c.517C>T c.1286C>T (p.Ala429Val) c.821C>T (p.Ala274Val) | dbSNP gnomAD v4 COSMIC |
| 18 | g.23556334G>C | CA401777498 | NPC1 | c.1235C>G (p.Ala412Gly) n.1149C>G c.517C>G c.1286C>G (p.Ala429Gly) c.821C>G (p.Ala274Gly) | |
| 18 | g.23556334G= | CA2290173682 | NPC1 | c.1235C= (p.Ala412=) n.1149C= c.517C= c.1286C= (p.Ala429=) c.821C= (p.Ala274=) | |
| 18 | g.23556334G>T | CA401777500 | NPC1 | c.1235C>A (p.Ala412Asp) n.1149C>A c.517C>A c.1286C>A (p.Ala429Asp) c.821C>A (p.Ala274Asp) | |
| 18 | g.23556335C>A | CA401777504 | NPC1 | c.1234G>T (p.Ala412Ser) n.1148G>T c.516G>T c.1285G>T (p.Ala429Ser) c.820G>T (p.Ala274Ser) | |
| 18 | g.23556335C>G | CA401777506 | NPC1 | c.1234G>C (p.Ala412Pro) n.1148G>C c.516G>C c.1285G>C (p.Ala429Pro) c.820G>C (p.Ala274Pro) | |
| 18 | g.23556335C>T | CA401777508 | NPC1 | c.1234G>A (p.Ala412Thr) n.1148G>A c.516G>A c.1285G>A (p.Ala429Thr) c.820G>A (p.Ala274Thr) | gnomAD v4 |
| 18 | g.23556336C>A | CA503325102 | NPC1 | c.1233G>T (p.Arg411=) n.1147G>T c.515G>T c.1284G>T (p.Arg428=) c.819G>T (p.Arg273=) | |
| 18 | g.23556336C= | CA2290173683 | NPC1 | c.1233G= (p.Arg411=) n.1147G= c.515G= c.1284G= (p.Arg428=) c.819G= (p.Arg273=) | |
| 18 | g.23556336C>G | CA503325103 | NPC1 | c.1233G>C (p.Arg411=) n.1147G>C c.515G>C c.1284G>C (p.Arg428=) c.819G>C (p.Arg273=) | |
| 18 | g.23556336C>T | CA8913511 | NPC1 | c.1233G>A (p.Arg411=) n.1147G>A c.515G>A c.1284G>A (p.Arg428=) c.819G>A (p.Arg273=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23556337C>A | CA401777511 | NPC1 | c.1232G>T (p.Arg411Leu) n.1146G>T c.514G>T c.1283G>T (p.Arg428Leu) c.818G>T (p.Arg273Leu) | |
| 18 | g.23556337C= | CA2290173684 | NPC1 | c.1232G= (p.Arg411=) n.1146G= c.514G= c.1283G= (p.Arg428=) c.818G= (p.Arg273=) | |
| 18 | g.23556337C>G | CA401777514 | NPC1 | c.1232G>C (p.Arg411Pro) n.1146G>C c.514G>C c.1283G>C (p.Arg428Pro) c.818G>C (p.Arg273Pro) | COSMIC |
| 18 | g.23556337C>T | CA8913512 | NPC1 | c.1232G>A (p.Arg411Gln) n.1146G>A c.514G>A c.1283G>A (p.Arg428Gln) c.818G>A (p.Arg273Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23556337_23556338delinsCG | CA2290173685 | NPC1 | c.1231_1232delinsCG (p.Arg411=) n.1145_1146delinsCG c.513_514delinsCG c.1282_1283delinsCG (p.Arg428=) c.817_818delinsCG (p.Arg273=) | |
| 18 | g.23556338G>A | CA401777518 | NPC1 | c.1231C>T (p.Arg411Trp) n.1145C>T c.513C>T c.1282C>T (p.Arg428Trp) c.817C>T (p.Arg273Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23556338G>C | CA401777520 | NPC1 | c.1231C>G (p.Arg411Gly) n.1145C>G c.513C>G c.1282C>G (p.Arg428Gly) c.817C>G (p.Arg273Gly) | |
| 18 | g.23556338G= | CA2290173686 | NPC1 | c.1231C= (p.Arg411=) n.1145C= c.513C= c.1282C= (p.Arg428=) c.817C= (p.Arg273=) | |
| 18 | g.23556338G>T | CA503325104 | NPC1 | c.1231C>A (p.Arg411=) n.1145C>A c.513C>A c.1282C>A (p.Arg428=) c.817C>A (p.Arg273=) | gnomAD v4 |
| 18 | g.23556339del | CA8913513 | NPC1 | c.1231del (p.Arg411GlyfsTer?) n.1145del c.513del c.1282del (p.Arg428GlyfsTer?) c.817del (p.Arg273GlyfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23556339_23556350dup | CA628978849 | NPC1 | c.1220_1231dup (p.Ile410_Arg411insGlnLeuIleIle) n.1134_1145dup c.502_513dup c.1271_1282dup (p.Ile427_Arg428insGlnLeuIleIle) c.806_817dup (p.Ile272_Arg273insGlnLeuIleIle) | gnomAD v2 gnomAD v4 |
| 18 | g.23556339G>A | CA503325105 | NPC1 | c.1230C>T (p.Ile410=) n.1144C>T c.512C>T c.1281C>T (p.Ile427=) c.816C>T (p.Ile272=) | |
| 18 | g.23556339G>C | CA401777524 | NPC1 | c.1230C>G (p.Ile410Met) n.1144C>G c.512C>G c.1281C>G (p.Ile427Met) c.816C>G (p.Ile272Met) | |
| 18 | g.23556339G>T | CA503325106 | NPC1 | c.1230C>A (p.Ile410=) n.1144C>A c.512C>A c.1281C>A (p.Ile427=) c.816C>A (p.Ile272=) | |
| 18 | g.23556340A= | CA2290173687 | NPC1 | c.1229T= (p.Ile410=) n.1143T= c.511T= c.1280T= (p.Ile427=) c.815T= (p.Ile272=) | |
| 18 | g.23556340A>C | CA401777530 | NPC1 | c.1229T>G (p.Ile410Ser) n.1143T>G c.511T>G c.1280T>G (p.Ile427Ser) c.815T>G (p.Ile272Ser) | |
| 18 | g.23556340A>G | CA297069438 | NPC1 | c.1229T>C (p.Ile410Thr) n.1143T>C c.511T>C c.1280T>C (p.Ile427Thr) c.815T>C (p.Ile272Thr) | dbSNP gnomAD v4 |
| 18 | g.23556340A>T | CA401777526 | NPC1 | c.1229T>A (p.Ile410Asn) n.1143T>A c.511T>A c.1280T>A (p.Ile427Asn) c.815T>A (p.Ile272Asn) | |
| 18 | g.23556341T>A | CA401777534 | NPC1 | c.1228A>T (p.Ile410Phe) n.1142A>T c.510A>T c.1279A>T (p.Ile427Phe) c.814A>T (p.Ile272Phe) | |
| 18 | g.23556341T>C | CA401777536 | NPC1 | c.1228A>G (p.Ile410Val) n.1142A>G c.510A>G c.1279A>G (p.Ile427Val) c.814A>G (p.Ile272Val) | |
| 18 | g.23556341T>G | CA401777539 | NPC1 | c.1228A>C (p.Ile410Leu) n.1142A>C c.510A>C c.1279A>C (p.Ile427Leu) c.814A>C (p.Ile272Leu) | |
| 18 | g.23556342G>A | CA503325107 | NPC1 | c.1227C>T (p.Ile409=) n.1141C>T c.509C>T c.1278C>T (p.Ile426=) c.813C>T (p.Ile271=) | dbSNP gnomAD v4 |
| 18 | g.23556342G>C | CA401777542 | NPC1 | c.1227C>G (p.Ile409Met) n.1141C>G c.509C>G c.1278C>G (p.Ile426Met) c.813C>G (p.Ile271Met) | |
| 18 | g.23556342G= | CA2290173688 | NPC1 | c.1227C= (p.Ile409=) n.1141C= c.509C= c.1278C= (p.Ile426=) c.813C= (p.Ile271=) | |
| 18 | g.23556342G>T | CA503325108 | NPC1 | c.1227C>A (p.Ile409=) n.1141C>A c.509C>A c.1278C>A (p.Ile426=) c.813C>A (p.Ile271=) | |
| 18 | g.23556343A>C | CA401777545 | NPC1 | c.1226T>G (p.Ile409Ser) n.1140T>G c.508T>G c.1277T>G (p.Ile426Ser) c.812T>G (p.Ile271Ser) | |
| 18 | g.23556343A>G | CA401777547 | NPC1 | c.1226T>C (p.Ile409Thr) n.1140T>C c.508T>C c.1277T>C (p.Ile426Thr) c.812T>C (p.Ile271Thr) | gnomAD v4 |
| 18 | g.23556343A>T | CA401777549 | NPC1 | c.1226T>A (p.Ile409Asn) n.1140T>A c.508T>A c.1277T>A (p.Ile426Asn) c.812T>A (p.Ile271Asn) | |
| 18 | g.23556344T>A | CA401777553 | NPC1 | c.1225A>T (p.Ile409Phe) n.1139A>T c.507A>T c.1276A>T (p.Ile426Phe) c.811A>T (p.Ile271Phe) | |
| 18 | g.23556344T>C | CA401777558 | NPC1 | c.1225A>G (p.Ile409Val) n.1139A>G c.507A>G c.1276A>G (p.Ile426Val) c.811A>G (p.Ile271Val) | |
| 18 | g.23556344T>G | CA401777556 | NPC1 | c.1225A>C (p.Ile409Leu) n.1139A>C c.507A>C c.1276A>C (p.Ile426Leu) c.811A>C (p.Ile271Leu) | gnomAD v4 |
| 18 | g.23556345G>A | CA8913514 | NPC1 | c.1224C>T (p.Leu408=) n.1138C>T c.506C>T c.1275C>T (p.Leu425=) c.810C>T (p.Leu270=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23556345G>C | CA503325110 | NPC1 | c.1224C>G (p.Leu408=) n.1138C>G c.506C>G c.1275C>G (p.Leu425=) c.810C>G (p.Leu270=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.23556345G= | CA2290173689 | NPC1 | c.1224C= (p.Leu408=) n.1138C= c.506C= c.1275C= (p.Leu425=) c.810C= (p.Leu270=) | |
| 18 | g.23556345G>T | CA503325109 | NPC1 | c.1224C>A (p.Leu408=) n.1138C>A c.506C>A c.1275C>A (p.Leu425=) c.810C>A (p.Leu270=) | |
| 18 | g.23556346A= | CA2290173690 | NPC1 | c.1223T= (p.Leu408=) n.1137T= c.505T= c.1274T= (p.Leu425=) c.809T= (p.Leu270=) | |
| 18 | g.23556346A>C | CA401777563 | NPC1 | c.1223T>G (p.Leu408Arg) n.1137T>G c.505T>G c.1274T>G (p.Leu425Arg) c.809T>G (p.Leu270Arg) | |
| 18 | g.23556346A>G | CA401777565 | NPC1 | c.1223T>C (p.Leu408Pro) n.1137T>C c.505T>C c.1274T>C (p.Leu425Pro) c.809T>C (p.Leu270Pro) | ClinVar dbSNP |
| 18 | g.23556346A>T | CA401777568 | NPC1 | c.1223T>A (p.Leu408His) n.1137T>A c.505T>A c.1274T>A (p.Leu425His) c.809T>A (p.Leu270His) | |
| 18 | g.23556347G>A | CA401777571 | NPC1 | c.1222C>T (p.Leu408Phe) n.1136C>T c.504C>T c.1273C>T (p.Leu425Phe) c.808C>T (p.Leu270Phe) | |
| 18 | g.23556347G>C | CA401777576 | NPC1 | c.1222C>G (p.Leu408Val) n.1136C>G c.504C>G c.1273C>G (p.Leu425Val) c.808C>G (p.Leu270Val) | |
| 18 | g.23556347G>T | CA401777574 | NPC1 | c.1222C>A (p.Leu408Ile) n.1136C>A c.504C>A c.1273C>A (p.Leu425Ile) c.808C>A (p.Leu270Ile) | |
| 18 | g.23556348C>A | CA401777579 | NPC1 | c.1221G>T (p.Gln407His) n.1135G>T c.503G>T c.1272G>T (p.Gln424His) c.807G>T (p.Gln269His) | |
| 18 | g.23556348C= | CA2290173691 | NPC1 | c.1221G= (p.Gln407=) n.1135G= c.503G= c.1272G= (p.Gln424=) c.807G= (p.Gln269=) | |
| 18 | g.23556348C>G | CA8913515 | NPC1 | c.1221G>C (p.Gln407His) n.1135G>C c.503G>C c.1272G>C (p.Gln424His) c.807G>C (p.Gln269His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23556348C>T | CA503325111 | NPC1 | c.1221G>A (p.Gln407=) n.1135G>A c.503G>A c.1272G>A (p.Gln424=) c.807G>A (p.Gln269=) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23556349T>A | CA401777583 | NPC1 | c.1220A>T (p.Gln407Leu) n.1134A>T c.502A>T c.1271A>T (p.Gln424Leu) c.806A>T (p.Gln269Leu) | |
| 18 | g.23556349T>C | CA401777586 | NPC1 | c.1220A>G (p.Gln407Arg) n.1134A>G c.502A>G c.1271A>G (p.Gln424Arg) c.806A>G (p.Gln269Arg) | |
| 18 | g.23556349T>G | CA401777588 | NPC1 | c.1220A>C (p.Gln407Pro) n.1134A>C c.502A>C c.1271A>C (p.Gln424Pro) c.806A>C (p.Gln269Pro) | |
| 18 | g.23556350G>A | CA8913516 | NPC1 | c.1219C>T (p.Gln407Ter) n.1133C>T c.501C>T c.1270C>T (p.Gln424Ter) c.805C>T (p.Gln269Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23556350G>C | CA401777592 | NPC1 | c.1219C>G (p.Gln407Glu) n.1133C>G c.501C>G c.1270C>G (p.Gln424Glu) c.805C>G (p.Gln269Glu) | gnomAD v4 |
| 18 | g.23556350G= | CA2290173692 | NPC1 | c.1219C= (p.Gln407=) n.1133C= c.501C= c.1270C= (p.Gln424=) c.805C= (p.Gln269=) | |
| 18 | g.23556350G>T | CA401777594 | NPC1 | c.1219C>A (p.Gln407Lys) n.1133C>A c.501C>A c.1270C>A (p.Gln424Lys) c.805C>A (p.Gln269Lys) | |
| 18 | g.23556351C>A | CA401777597 | NPC1 | c.1218G>T (p.Glu406Asp) n.1132G>T c.500G>T c.1269G>T (p.Glu423Asp) c.804G>T (p.Glu268Asp) | |
| 18 | g.23556351C>G | CA401777600 | NPC1 | c.1218G>C (p.Glu406Asp) n.1132G>C c.500G>C c.1269G>C (p.Glu423Asp) c.804G>C (p.Glu268Asp) | |
| 18 | g.23556351C>T | CA503325112 | NPC1 | c.1218G>A (p.Glu406=) n.1132G>A c.500G>A c.1269G>A (p.Glu423=) c.804G>A (p.Glu268=) | gnomAD v4 |
| 18 | g.23556352T>A | CA401777608 | NPC1 | c.1217A>T (p.Glu406Val) n.1131A>T c.499A>T c.1268A>T (p.Glu423Val) c.803A>T (p.Glu268Val) | |
| 18 | g.23556352T>C | CA401777603 | NPC1 | c.1217A>G (p.Glu406Gly) n.1131A>G c.499A>G c.1268A>G (p.Glu423Gly) c.803A>G (p.Glu268Gly) | |
| 18 | g.23556352T>G | CA401777605 | NPC1 | c.1217A>C (p.Glu406Ala) n.1131A>C c.499A>C c.1268A>C (p.Glu423Ala) c.803A>C (p.Glu268Ala) | |
| 18 | g.23556353C>A | CA401777610 | NPC1 | c.1216G>T (p.Glu406Ter) n.1130G>T c.498G>T c.1267G>T (p.Glu423Ter) c.802G>T (p.Glu268Ter) | |
| 18 | g.23556353C>G | CA401777614 | NPC1 | c.1216G>C (p.Glu406Gln) n.1130G>C c.498G>C c.1267G>C (p.Glu423Gln) c.802G>C (p.Glu268Gln) | |
| 18 | g.23556353C>T | CA401777612 | NPC1 | c.1216G>A (p.Glu406Lys) n.1130G>A c.498G>A c.1267G>A (p.Glu423Lys) c.802G>A (p.Glu268Lys) | |
| 18 | g.23556354C>A | CA503325113 | NPC1 | c.1215G>T (p.Thr405=) n.1129G>T c.497G>T c.1266G>T (p.Thr422=) c.801G>T (p.Thr267=) | |
| 18 | g.23556354C= | CA2290173693 | NPC1 | c.1215G= (p.Thr405=) n.1129G= c.497G= c.1266G= (p.Thr422=) c.801G= (p.Thr267=) | |
| 18 | g.23556354C>G | CA503325114 | NPC1 | c.1215G>C (p.Thr405=) n.1129G>C c.497G>C c.1266G>C (p.Thr422=) c.801G>C (p.Thr267=) | |
| 18 | g.23556354C>T | CA8913517 | NPC1 | c.1215G>A (p.Thr405=) n.1129G>A c.497G>A c.1266G>A (p.Thr422=) c.801G>A (p.Thr267=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23556355G>A | CA8913518 | NPC1 | c.1214C>T (p.Thr405Met) n.1128C>T c.496C>T c.1265C>T (p.Thr422Met) c.800C>T (p.Thr267Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23556355G>C | CA401777620 | NPC1 | c.1214C>G (p.Thr405Arg) n.1128C>G c.496C>G c.1265C>G (p.Thr422Arg) c.800C>G (p.Thr267Arg) | |
| 18 | g.23556355G= | CA2290173694 | NPC1 | c.1214C= (p.Thr405=) n.1128C= c.496C= c.1265C= (p.Thr422=) c.800C= (p.Thr267=) | |
| 18 | g.23556355G>T | CA401777622 | NPC1 | c.1214C>A (p.Thr405Lys) n.1128C>A c.496C>A c.1265C>A (p.Thr422Lys) c.800C>A (p.Thr267Lys) | |
| 18 | g.23556356T>A | CA401777626 | NPC1 | c.1213A>T (p.Thr405Ser) n.1127A>T c.495A>T c.1264A>T (p.Thr422Ser) c.799A>T (p.Thr267Ser) | |
| 18 | g.23556356T>C | CA401777629 | NPC1 | c.1213A>G (p.Thr405Ala) n.1127A>G c.495A>G c.1264A>G (p.Thr422Ala) c.799A>G (p.Thr267Ala) | |
| 18 | g.23556356T>G | CA401777630 | NPC1 | c.1213A>C (p.Thr405Pro) n.1127A>C c.495A>C c.1264A>C (p.Thr422Pro) c.799A>C (p.Thr267Pro) | |
| 18 | g.23556357C>A | CA503325115 | NPC1 | c.1212G>T (p.Arg404=) n.1126G>T c.494G>T c.1263G>T (p.Arg421=) c.798G>T (p.Arg266=) | |
| 18 | g.23556357C>G | CA503325117 | NPC1 | c.1212G>C (p.Arg404=) n.1126G>C c.494G>C c.1263G>C (p.Arg421=) c.798G>C (p.Arg266=) | gnomAD v4 |
| 18 | g.23556357C>T | CA503325116 | NPC1 | c.1212G>A (p.Arg404=) n.1126G>A c.494G>A c.1263G>A (p.Arg421=) c.798G>A (p.Arg266=) | |
| 18 | g.23556358C>A | CA401777634 | NPC1 | c.1211G>T (p.Arg404Leu) n.1125G>T c.493G>T c.1262G>T (p.Arg421Leu) c.797G>T (p.Arg266Leu) | |
| 18 | g.23556358C= | CA2290173695 | NPC1 | c.1211G= (p.Arg404=) n.1125G= c.493G= c.1262G= (p.Arg421=) c.797G= (p.Arg266=) | |
| 18 | g.23556358C>G | CA401777636 | NPC1 | c.1211G>C (p.Arg404Pro) n.1125G>C c.493G>C c.1262G>C (p.Arg421Pro) c.797G>C (p.Arg266Pro) | |
| 18 | g.23556358C>T | CA273968 | NPC1 | c.1211G>A (p.Arg404Gln) n.1125G>A c.493G>A c.1262G>A (p.Arg421Gln) c.797G>A (p.Arg266Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23556359G>A | CA401777639 | NPC1 | c.1210C>T (p.Arg404Trp) n.1124C>T c.492C>T c.1261C>T (p.Arg421Trp) c.796C>T (p.Arg266Trp) | ClinVar dbSNP gnomAD v4 COSMIC |
| 18 | g.23556359G>C | CA401777641 | NPC1 | c.1210C>G (p.Arg404Gly) n.1124C>G c.492C>G c.1261C>G (p.Arg421Gly) c.796C>G (p.Arg266Gly) | |
| 18 | g.23556359G= | CA2290173696 | NPC1 | c.1210C= (p.Arg404=) n.1124C= c.492C= c.1261C= (p.Arg421=) c.796C= (p.Arg266=) | |
| 18 | g.23556359G>T | CA503325118 | NPC1 | c.1210C>A (p.Arg404=) n.1124C>A c.492C>A c.1261C>A (p.Arg421=) c.796C>A (p.Arg266=) | dbSNP |
| 18 | g.23556360del | CA2695227250 | NPC1 | c.1210del (p.Arg404GlyfsTer?) n.1124del c.492del c.1261del (p.Arg421GlyfsTer?) c.796del (p.Arg266GlyfsTer?) | |
| 18 | g.23556360G>A | CA503325119 | NPC1 | c.1209C>T (p.Phe403=) n.1123C>T c.491C>T c.1260C>T (p.Phe420=) c.795C>T (p.Phe265=) | |
| 18 | g.23556360G>C | CA401777644 | NPC1 | c.1209C>G (p.Phe403Leu) n.1123C>G c.491C>G c.1260C>G (p.Phe420Leu) c.795C>G (p.Phe265Leu) | gnomAD v4 |
| 18 | g.23556360G>T | CA401777646 | NPC1 | c.1209C>A (p.Phe403Leu) n.1123C>A c.491C>A c.1260C>A (p.Phe420Leu) c.795C>A (p.Phe265Leu) | gnomAD v4 |
| 18 | g.23556361A= | CA2290173697 | NPC1 | c.1208T= (p.Phe403=) n.1122T= c.490T= c.1259T= (p.Phe420=) c.794T= (p.Phe265=) | |
| 18 | g.23556361A>C | CA401777653 | NPC1 | c.1208T>G (p.Phe403Cys) n.1122T>G c.490T>G c.1259T>G (p.Phe420Cys) c.794T>G (p.Phe265Cys) | |
| 18 | g.23556361A>G | CA8913519 | NPC1 | c.1208T>C (p.Phe403Ser) n.1122T>C c.490T>C c.1259T>C (p.Phe420Ser) c.794T>C (p.Phe265Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23556361A>T | CA401777651 | NPC1 | c.1208T>A (p.Phe403Tyr) n.1122T>A c.490T>A c.1259T>A (p.Phe420Tyr) c.794T>A (p.Phe265Tyr) | |
| 18 | g.23556364_23556367del | CA2641274169 | NPC1 | c.1205_1208del (p.Phe402SerfsTer?) n.1119_1122del c.487_490del c.1256_1259del (p.Phe419SerfsTer?) c.791_794del (p.Phe264SerfsTer?) | ClinVar gnomAD v4 |
| 18 | g.23556362A>C | CA401777655 | NPC1 | c.1207T>G (p.Phe403Val) n.1121T>G c.489T>G c.1258T>G (p.Phe420Val) c.793T>G (p.Phe265Val) | |
| 18 | g.23556362A>G | CA401777658 | NPC1 | c.1207T>C (p.Phe403Leu) n.1121T>C c.489T>C c.1258T>C (p.Phe420Leu) c.793T>C (p.Phe265Leu) | |
| 18 | g.23556362A>T | CA401777663 | NPC1 | c.1207T>A (p.Phe403Ile) n.1121T>A c.489T>A c.1258T>A (p.Phe420Ile) c.793T>A (p.Phe265Ile) | |
| 18 | g.23556363G>A | CA503325120 | NPC1 | c.1206C>T (p.Phe402=) n.1120C>T c.488C>T c.1257C>T (p.Phe419=) c.792C>T (p.Phe264=) | |
| 18 | g.23556363G>C | CA401777669 | NPC1 | c.1206C>G (p.Phe402Leu) n.1120C>G c.488C>G c.1257C>G (p.Phe419Leu) c.792C>G (p.Phe264Leu) | |
| 18 | g.23556363G>T | CA401777671 | NPC1 | c.1206C>A (p.Phe402Leu) n.1120C>A c.488C>A c.1257C>A (p.Phe419Leu) c.792C>A (p.Phe264Leu) | |
| 18 | g.23556364A= | CA2290173698 | NPC1 | c.1205T= (p.Phe402=) n.1119T= c.487T= c.1256T= (p.Phe419=) c.791T= (p.Phe264=) | |
| 18 | g.23556364A>C | CA401777675 | NPC1 | c.1205T>G (p.Phe402Cys) n.1119T>G c.487T>G c.1256T>G (p.Phe419Cys) c.791T>G (p.Phe264Cys) | |
| 18 | g.23556364A>G | CA401777678 | NPC1 | c.1205T>C (p.Phe402Ser) n.1119T>C c.487T>C c.1256T>C (p.Phe419Ser) c.791T>C (p.Phe264Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.23556364A>T | CA401777681 | NPC1 | c.1205T>A (p.Phe402Tyr) n.1119T>A c.487T>A c.1256T>A (p.Phe419Tyr) c.791T>A (p.Phe264Tyr) | |
| 18 | g.23556364_23556365delinsGC | CA2695227251 | NPC1 | c.1204_1205delinsGC (p.Phe402Ala) n.1118_1119delinsGC c.486_487delinsGC c.1255_1256delinsGC (p.Phe419Ala) c.790_791delinsGC (p.Phe264Ala) | |
| 18 | g.23556365A= | CA2290173699 | NPC1 | c.1204T= (p.Phe402=) n.1118T= c.486T= c.1255T= (p.Phe419=) c.790T= (p.Phe264=) | |
| 18 | g.23556365A>C | CA401777686 | NPC1 | c.1204T>G (p.Phe402Val) n.1118T>G c.486T>G c.1255T>G (p.Phe419Val) c.790T>G (p.Phe264Val) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.23556365A>G | CA401777690 | NPC1 | c.1204T>C (p.Phe402Leu) n.1118T>C c.486T>C c.1255T>C (p.Phe419Leu) c.790T>C (p.Phe264Leu) | |
| 18 | g.23556365A>T | CA401777693 | NPC1 | c.1204T>A (p.Phe402Ile) n.1118T>A c.486T>A c.1255T>A (p.Phe419Ile) c.790T>A (p.Phe264Ile) | |
| 18 | g.23556366A>C | CA503325121 | NPC1 | c.1203T>G (p.Pro401=) n.1117T>G c.485T>G c.1254T>G (p.Pro418=) c.789T>G (p.Pro263=) | |
| 18 | g.23556366A>G | CA503325122 | NPC1 | c.1203T>C (p.Pro401=) n.1117T>C c.485T>C c.1254T>C (p.Pro418=) c.789T>C (p.Pro263=) | |
| 18 | g.23556366A>T | CA503325123 | NPC1 | c.1203T>A (p.Pro401=) n.1117T>A c.485T>A c.1254T>A (p.Pro418=) c.789T>A (p.Pro263=) | ClinVar dbSNP gnomAD v4 |
| 18 | g.23556367G>A | CA401777702 | NPC1 | c.1202C>T (p.Pro401Leu) n.1116C>T c.484C>T c.1253C>T (p.Pro418Leu) c.788C>T (p.Pro263Leu) | gnomAD v4 |
| 18 | g.23556367G>C | CA401777699 | NPC1 | c.1202C>G (p.Pro401Arg) n.1116C>G c.484C>G c.1253C>G (p.Pro418Arg) c.788C>G (p.Pro263Arg) | |
| 18 | g.23556367G>T | CA401777696 | NPC1 | c.1202C>A (p.Pro401His) n.1116C>A c.484C>A c.1253C>A (p.Pro418His) c.788C>A (p.Pro263His) | |
| 18 | g.23556368G>A | CA8913520 | NPC1 | c.1201C>T (p.Pro401Ser) n.1115C>T c.483C>T c.1252C>T (p.Pro418Ser) c.787C>T (p.Pro263Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 18 | g.23556368G>C | CA401777705 | NPC1 | c.1201C>G (p.Pro401Ala) n.1115C>G c.483C>G c.1252C>G (p.Pro418Ala) c.787C>G (p.Pro263Ala) | |
| 18 | g.23556368G= | CA2290173700 | NPC1 | c.1201C= (p.Pro401=) n.1115C= c.483C= c.1252C= (p.Pro418=) c.787C= (p.Pro263=) | |
| 18 | g.23556368G>T | CA401777707 | NPC1 | c.1201C>A (p.Pro401Thr) n.1115C>A c.483C>A c.1252C>A (p.Pro418Thr) c.787C>A (p.Pro263Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23556369C>A | CA503325124 | NPC1 | c.1200G>T (p.Gly400=) n.1114G>T c.482G>T c.1251G>T (p.Gly417=) c.786G>T (p.Gly262=) | |
| 18 | g.23556369C>G | CA503325125 | NPC1 | c.1200G>C (p.Gly400=) n.1114G>C c.482G>C c.1251G>C (p.Gly417=) c.786G>C (p.Gly262=) | |
| 18 | g.23556369C>T | CA503325126 | NPC1 | c.1200G>A (p.Gly400=) n.1114G>A c.482G>A c.1251G>A (p.Gly417=) c.786G>A (p.Gly262=) | |
| 18 | g.23556370C>A | CA401777711 | NPC1 | c.1199G>T (p.Gly400Val) n.1113G>T c.481G>T c.1250G>T (p.Gly417Val) c.785G>T (p.Gly262Val) | |
| 18 | g.23556370C>G | CA401777713 | NPC1 | c.1199G>C (p.Gly400Ala) n.1113G>C c.481G>C c.1250G>C (p.Gly417Ala) c.785G>C (p.Gly262Ala) | |
| 18 | g.23556370C>T | CA401777717 | NPC1 | c.1199G>A (p.Gly400Glu) n.1113G>A c.481G>A c.1250G>A (p.Gly417Glu) c.785G>A (p.Gly262Glu) | |
| 18 | g.23556371C>A | CA401777729 | NPC1 | c.1198G>T (p.Gly400Trp) n.1112G>T c.480G>T c.1249G>T (p.Gly417Trp) c.784G>T (p.Gly262Trp) | |
| 18 | g.23556371C>G | CA401777722 | NPC1 | c.1198G>C (p.Gly400Arg) n.1112G>C c.480G>C c.1249G>C (p.Gly417Arg) c.784G>C (p.Gly262Arg) | |
| 18 | g.23556371C>T | CA401777726 | NPC1 | c.1198G>A (p.Gly400Arg) n.1112G>A c.480G>A c.1249G>A (p.Gly417Arg) c.784G>A (p.Gly262Arg) | gnomAD v4 |
| 18 | g.23556372A>C | CA401777733 | NPC1 | c.1197T>G (p.Phe399Leu) n.1111T>G c.479T>G c.1248T>G (p.Phe416Leu) c.783T>G (p.Phe261Leu) | |
| 18 | g.23556372A>G | CA503325127 | NPC1 | c.1197T>C (p.Phe399=) n.1111T>C c.479T>C c.1248T>C (p.Phe416=) c.783T>C (p.Phe261=) | gnomAD v4 |
| 18 | g.23556372A>T | CA401777736 | NPC1 | c.1197T>A (p.Phe399Leu) n.1111T>A c.479T>A c.1248T>A (p.Phe416Leu) c.783T>A (p.Phe261Leu) | |
| 18 | g.23556373A>C | CA401777739 | NPC1 | c.1196T>G (p.Phe399Cys) n.1110T>G c.478T>G c.1247T>G (p.Phe416Cys) c.782T>G (p.Phe261Cys) | |
| 18 | g.23556373A>G | CA401777746 | NPC1 | c.1196T>C (p.Phe399Ser) n.1110T>C c.478T>C c.1247T>C (p.Phe416Ser) c.782T>C (p.Phe261Ser) | |
| 18 | g.23556373A>T | CA401777749 | NPC1 | c.1196T>A (p.Phe399Tyr) n.1110T>A c.478T>A c.1247T>A (p.Phe416Tyr) c.782T>A (p.Phe261Tyr) | |
| 18 | g.23556374A>C | CA401777753 | NPC1 | c.1195T>G (p.Phe399Val) n.1109T>G c.477T>G c.1246T>G (p.Phe416Val) c.781T>G (p.Phe261Val) | |
| 18 | g.23556374A>G | CA401777757 | NPC1 | c.1195T>C (p.Phe399Leu) n.1109T>C c.477T>C c.1246T>C (p.Phe416Leu) c.781T>C (p.Phe261Leu) | |
| 18 | g.23556374A>T | CA401777755 | NPC1 | c.1195T>A (p.Phe399Ile) n.1109T>A c.477T>A c.1246T>A (p.Phe416Ile) c.781T>A (p.Phe261Ile) | |
| 18 | g.23556375G>A | CA503325128 | NPC1 | c.1194C>T (p.His398=) n.1108C>T c.476C>T c.1245C>T (p.His415=) c.780C>T (p.His260=) | |
| 18 | g.23556375G>C | CA401777761 | NPC1 | c.1194C>G (p.His398Gln) n.1108C>G c.476C>G c.1245C>G (p.His415Gln) c.780C>G (p.His260Gln) | ClinVar dbSNP |
| 18 | g.23556375G= | CA2290173701 | NPC1 | c.1194C= (p.His398=) n.1108C= c.476C= c.1245C= (p.His415=) c.780C= (p.His260=) | |
| 18 | g.23556375G>T | CA401777764 | NPC1 | c.1194C>A (p.His398Gln) n.1108C>A c.476C>A c.1245C>A (p.His415Gln) c.780C>A (p.His260Gln) | gnomAD v4 |
| 18 | g.23556376T>A | CA401777767 | NPC1 | c.1193A>T (p.His398Leu) n.1107A>T c.475A>T c.1244A>T (p.His415Leu) c.779A>T (p.His260Leu) | |
| 18 | g.23556376T>C | CA401777769 | NPC1 | c.1193A>G (p.His398Arg) n.1107A>G c.475A>G c.1244A>G (p.His415Arg) c.779A>G (p.His260Arg) | gnomAD v4 |
| 18 | g.23556376T>G | CA401777773 | NPC1 | c.1193A>C (p.His398Pro) n.1107A>C c.475A>C c.1244A>C (p.His415Pro) c.779A>C (p.His260Pro) | |
| 18 | g.23556377G>A | CA401777776 | NPC1 | c.1192C>T (p.His398Tyr) n.1106C>T c.474C>T c.1243C>T (p.His415Tyr) c.778C>T (p.His260Tyr) | |
| 18 | g.23556377G>C | CA401777779 | NPC1 | c.1192C>G (p.His398Asp) n.1106C>G c.474C>G c.1243C>G (p.His415Asp) c.778C>G (p.His260Asp) | |
| 18 | g.23556377G>T | CA401777781 | NPC1 | c.1192C>A (p.His398Asn) n.1106C>A c.474C>A c.1243C>A (p.His415Asn) c.778C>A (p.His260Asn) | |
| 18 | g.23556378C>A | CA401777785 | NPC1 | c.1191G>T (p.Gln397His) n.1105G>T c.473G>T c.1242G>T (p.Gln414His) c.777G>T (p.Gln259His) | |
| 18 | g.23556378C= | CA2290173702 | NPC1 | c.1191G= (p.Gln397=) n.1105G= c.473G= c.1242G= (p.Gln414=) c.777G= (p.Gln259=) | |
| 18 | g.23556378C>G | CA401777789 | NPC1 | c.1191G>C (p.Gln397His) n.1105G>C c.473G>C c.1242G>C (p.Gln414His) c.777G>C (p.Gln259His) | |
| 18 | g.23556378C>T | CA8913521 | NPC1 | c.1191G>A (p.Gln397=) n.1105G>A c.473G>A c.1242G>A (p.Gln414=) c.777G>A (p.Gln259=) | ClinVar dbSNP ExAC |
| 18 | g.23556379T>A | CA401777800 | NPC1 | c.1190A>T (p.Gln397Leu) n.1104A>T c.472A>T c.1241A>T (p.Gln414Leu) c.776A>T (p.Gln259Leu) | |
| 18 | g.23556379T>C | CA8913522 | NPC1 | c.1190A>G (p.Gln397Arg) n.1104A>G c.472A>G c.1241A>G (p.Gln414Arg) c.776A>G (p.Gln259Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23556379T>G | CA401777794 | NPC1 | c.1190A>C (p.Gln397Pro) n.1104A>C c.472A>C c.1241A>C (p.Gln414Pro) c.776A>C (p.Gln259Pro) | |
| 18 | g.23556379T= | CA2290173703 | NPC1 | c.1190A= (p.Gln397=) n.1104A= c.472A= c.1241A= (p.Gln414=) c.776A= (p.Gln259=) | |
| 18 | g.23556380G>A | CA401777808 | NPC1 | c.1189C>T (p.Gln397Ter) n.1103C>T c.471C>T c.1240C>T (p.Gln414Ter) c.775C>T (p.Gln259Ter) | gnomAD v4 |
| 18 | g.23556380G>C | CA401777804 | NPC1 | c.1189C>G (p.Gln397Glu) n.1103C>G c.471C>G c.1240C>G (p.Gln414Glu) c.775C>G (p.Gln259Glu) | |
| 18 | g.23556380G= | CA2290173704 | NPC1 | c.1189C= (p.Gln397=) n.1103C= c.471C= c.1240C= (p.Gln414=) c.775C= (p.Gln259=) | |
| 18 | g.23556380G>T | CA401777811 | NPC1 | c.1189C>A (p.Gln397Lys) n.1103C>A c.471C>A c.1240C>A (p.Gln414Lys) c.775C>A (p.Gln259Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23556381G>A | CA503325129 | NPC1 | c.1188C>T (p.Asp396=) n.1102C>T c.470C>T c.1239C>T (p.Asp413=) c.774C>T (p.Asp258=) | dbSNP |
| 18 | g.23556381G>C | CA401777814 | NPC1 | c.1188C>G (p.Asp396Glu) n.1102C>G c.470C>G c.1239C>G (p.Asp413Glu) c.774C>G (p.Asp258Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.23556381G= | CA2290173705 | NPC1 | c.1188C= (p.Asp396=) n.1102C= c.470C= c.1239C= (p.Asp413=) c.774C= (p.Asp258=) | |
| 18 | g.23556381G>T | CA8913523 | NPC1 | c.1188C>A (p.Asp396Glu) n.1102C>A c.470C>A c.1239C>A (p.Asp413Glu) c.774C>A (p.Asp258Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23556382T>A | CA401777821 | NPC1 | c.1187A>T (p.Asp396Val) n.1101A>T c.469A>T c.1238A>T (p.Asp413Val) c.773A>T (p.Asp258Val) | |
| 18 | g.23556382T>C | CA401777824 | NPC1 | c.1187A>G (p.Asp396Gly) n.1101A>G c.469A>G c.1238A>G (p.Asp413Gly) c.773A>G (p.Asp258Gly) | |
| 18 | g.23556382T>G | CA401777826 | NPC1 | c.1187A>C (p.Asp396Ala) n.1101A>C c.469A>C c.1238A>C (p.Asp413Ala) c.773A>C (p.Asp258Ala) | |
| 18 | g.23556383C>A | CA401777828 | NPC1 | c.1186G>T (p.Asp396Tyr) n.1100G>T c.468G>T c.1237G>T (p.Asp413Tyr) c.772G>T (p.Asp258Tyr) | gnomAD v4 |
| 18 | g.23556383C>G | CA401777831 | NPC1 | c.1186G>C (p.Asp396His) n.1100G>C c.468G>C c.1237G>C (p.Asp413His) c.772G>C (p.Asp258His) | |
| 18 | g.23556383C>T | CA401777833 | NPC1 | c.1186G>A (p.Asp396Asn) n.1100G>A c.468G>A c.1237G>A (p.Asp413Asn) c.772G>A (p.Asp258Asn) | |
| 18 | g.23556384A= | CA2290173706 | NPC1 | c.1185T= (p.Phe395=) n.1099T= c.467T= c.1236T= (p.Phe412=) c.771T= (p.Phe257=) | |
| 18 | g.23556384A>C | CA401777835 | NPC1 | c.1185T>G (p.Phe395Leu) n.1099T>G c.467T>G c.1236T>G (p.Phe412Leu) c.771T>G (p.Phe257Leu) | |
| 18 | g.23556384A>G | CA503325130 | NPC1 | c.1185T>C (p.Phe395=) n.1099T>C c.467T>C c.1236T>C (p.Phe412=) c.771T>C (p.Phe257=) | dbSNP |
| 18 | g.23556384A>T | CA401777837 | NPC1 | c.1185T>A (p.Phe395Leu) n.1099T>A c.467T>A c.1236T>A (p.Phe412Leu) c.771T>A (p.Phe257Leu) | |
| 18 | g.23556386dup | CA2695227252 | NPC1 | c.1185dup (p.Asp396Ter) n.1099dup c.467dup c.1236dup (p.Asp413Ter) c.771dup (p.Asp258Ter) | |
| 18 | g.23556385A>C | CA401777841 | NPC1 | c.1184T>G (p.Phe395Cys) n.1098T>G c.466T>G c.1235T>G (p.Phe412Cys) c.770T>G (p.Phe257Cys) | |
| 18 | g.23556385A>G | CA401777842 | NPC1 | c.1184T>C (p.Phe395Ser) n.1098T>C c.466T>C c.1235T>C (p.Phe412Ser) c.770T>C (p.Phe257Ser) | |
| 18 | g.23556385A>T | CA401777845 | NPC1 | c.1184T>A (p.Phe395Tyr) n.1098T>A c.466T>A c.1235T>A (p.Phe412Tyr) c.770T>A (p.Phe257Tyr) | |
| 18 | g.23556386A>C | CA401777852 | NPC1 | c.1183T>G (p.Phe395Val) n.1097T>G c.465T>G c.1234T>G (p.Phe412Val) c.769T>G (p.Phe257Val) | |
| 18 | g.23556386A>G | CA401777848 | NPC1 | c.1183T>C (p.Phe395Leu) n.1097T>C c.465T>C c.1234T>C (p.Phe412Leu) c.769T>C (p.Phe257Leu) | |
| 18 | g.23556386A>T | CA401777850 | NPC1 | c.1183T>A (p.Phe395Ile) n.1097T>A c.465T>A c.1234T>A (p.Phe412Ile) c.769T>A (p.Phe257Ile) | |
| 18 | g.23556387G>A | CA503325131 | NPC1 | c.1182C>T (p.Tyr394=) n.1096C>T c.464C>T c.1233C>T (p.Tyr411=) c.768C>T (p.Tyr256=) | |
| 18 | g.23556387G>C | CA401777855 | NPC1 | c.1182C>G (p.Tyr394Ter) n.1096C>G c.464C>G c.1233C>G (p.Tyr411Ter) c.768C>G (p.Tyr256Ter) | ClinVar |
| 18 | g.23556387G>T | CA401777856 | NPC1 | c.1182C>A (p.Tyr394Ter) n.1096C>A c.464C>A c.1233C>A (p.Tyr411Ter) c.768C>A (p.Tyr256Ter) | ClinVar |
| 18 | g.23556388T>A | CA401777859 | NPC1 | c.1181A>T (p.Tyr394Phe) n.1095A>T c.463A>T c.1232A>T (p.Tyr411Phe) c.767A>T (p.Tyr256Phe) | |
| 18 | g.23556388T>C | CA401777861 | NPC1 | c.1181A>G (p.Tyr394Cys) n.1095A>G c.463A>G c.1232A>G (p.Tyr411Cys) c.767A>G (p.Tyr256Cys) | gnomAD v4 |
| 18 | g.23556388T>G | CA401777863 | NPC1 | c.1181A>C (p.Tyr394Ser) n.1095A>C c.463A>C c.1232A>C (p.Tyr411Ser) c.767A>C (p.Tyr256Ser) | dbSNP |
| 18 | g.23556388T= | CA2290173707 | NPC1 | c.1181A= (p.Tyr394=) n.1095A= c.463A= c.1232A= (p.Tyr411=) c.767A= (p.Tyr256=) | |
| 18 | g.23556388_23556389dup | CA2580095676 | NPC1 | c.1180_1181dup (p.Phe395ThrfsTer?) n.1094_1095dup c.462_463dup c.1231_1232dup (p.Phe412ThrfsTer?) c.766_767dup (p.Phe257ThrfsTer?) | ClinVar |
| 18 | g.23556389A>C | CA401777866 | NPC1 | c.1180T>G (p.Tyr394Asp) n.1094T>G c.462T>G c.1231T>G (p.Tyr411Asp) c.766T>G (p.Tyr256Asp) | |
| 18 | g.23556389A>G | CA401777868 | NPC1 | c.1180T>C (p.Tyr394His) n.1094T>C c.462T>C c.1231T>C (p.Tyr411His) c.766T>C (p.Tyr256His) | |
| 18 | g.23556389A>T | CA401777870 | NPC1 | c.1180T>A (p.Tyr394Asn) n.1094T>A c.462T>A c.1231T>A (p.Tyr411Asn) c.766T>A (p.Tyr256Asn) | |
| 18 | g.23556390C>A | CA401777873 | NPC1 | c.1179G>T (p.Glu393Asp) n.1093G>T c.461G>T c.1230G>T (p.Glu410Asp) c.765G>T (p.Glu255Asp) | |
| 18 | g.23556390C= | CA2290173708 | NPC1 | c.1179G= (p.Glu393=) n.1093G= c.461G= c.1230G= (p.Glu410=) c.765G= (p.Glu255=) | |
| 18 | g.23556390C>G | CA401777875 | NPC1 | c.1179G>C (p.Glu393Asp) n.1093G>C c.461G>C c.1230G>C (p.Glu410Asp) c.765G>C (p.Glu255Asp) | |
| 18 | g.23556390C>T | CA8913524 | NPC1 | c.1179G>A (p.Glu393=) n.1093G>A c.461G>A c.1230G>A (p.Glu410=) c.765G>A (p.Glu255=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23556391T>A | CA401777884 | NPC1 | c.1178A>T (p.Glu393Val) n.1092A>T c.460A>T c.1229A>T (p.Glu410Val) c.764A>T (p.Glu255Val) | |
| 18 | g.23556391T>C | CA401777881 | NPC1 | c.1178A>G (p.Glu393Gly) n.1092A>G c.460A>G c.1229A>G (p.Glu410Gly) c.764A>G (p.Glu255Gly) | |
| 18 | g.23556391T>G | CA401777878 | NPC1 | c.1178A>C (p.Glu393Ala) n.1092A>C c.460A>C c.1229A>C (p.Glu410Ala) c.764A>C (p.Glu255Ala) | gnomAD v4 |
| 18 | g.23556392C>A | CA401777886 | NPC1 | c.1177G>T (p.Glu393Ter) n.1091G>T c.459G>T c.1228G>T (p.Glu410Ter) c.763G>T (p.Glu255Ter) | |
| 18 | g.23556392C= | CA2290173709 | NPC1 | c.1177G= (p.Glu393=) n.1091G= c.459G= c.1228G= (p.Glu410=) c.763G= (p.Glu255=) | |
| 18 | g.23556392C>G | CA401777888 | NPC1 | c.1177G>C (p.Glu393Gln) n.1091G>C c.459G>C c.1228G>C (p.Glu410Gln) c.763G>C (p.Glu255Gln) | |
| 18 | g.23556392C>T | CA401777890 | NPC1 | c.1177G>A (p.Glu393Lys) n.1091G>A c.459G>A c.1228G>A (p.Glu410Lys) c.763G>A (p.Glu255Lys) | |
| 18 | g.23556393T>A | CA401777894 | NPC1 | c.1176A>T (p.Lys392Asn) n.1090A>T c.458A>T c.1227A>T (p.Lys409Asn) c.762A>T (p.Lys254Asn) | |
| 18 | g.23556393T>C | CA503325132 | NPC1 | c.1176A>G (p.Lys392=) n.1090A>G c.458A>G c.1227A>G (p.Lys409=) c.762A>G (p.Lys254=) | |
| 18 | g.23556393T>G | CA401777895 | NPC1 | c.1176A>C (p.Lys392Asn) n.1090A>C c.458A>C c.1227A>C (p.Lys409Asn) c.762A>C (p.Lys254Asn) | |
| 18 | g.23556397dup | CA8913525 | NPC1 | c.1176dup (p.Glu393ArgfsTer4) n.1090dup c.458dup c.1227dup (p.Glu410ArgfsTer4) c.762dup (p.Glu255ArgfsTer4) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23556394T>A | CA401777901 | NPC1 | c.1175A>T (p.Lys392Ile) n.1089A>T c.457A>T c.1226A>T (p.Lys409Ile) c.761A>T (p.Lys254Ile) | |
| 18 | g.23556394T>C | CA401777897 | NPC1 | c.1175A>G (p.Lys392Arg) n.1089A>G c.457A>G c.1226A>G (p.Lys409Arg) c.761A>G (p.Lys254Arg) | |
| 18 | g.23556394T>G | CA401777899 | NPC1 | c.1175A>C (p.Lys392Thr) n.1089A>C c.457A>C c.1226A>C (p.Lys409Thr) c.761A>C (p.Lys254Thr) | |
| 18 | g.23556395T>A | CA401777903 | NPC1 | c.1174A>T (p.Lys392Ter) n.1088A>T c.456A>T c.1225A>T (p.Lys409Ter) c.760A>T (p.Lys254Ter) | |
| 18 | g.23556395T>C | CA401777905 | NPC1 | c.1174A>G (p.Lys392Glu) n.1088A>G c.456A>G c.1225A>G (p.Lys409Glu) c.760A>G (p.Lys254Glu) | |
| 18 | g.23556395T>G | CA401777907 | NPC1 | c.1174A>C (p.Lys392Gln) n.1088A>C c.456A>C c.1225A>C (p.Lys409Gln) c.760A>C (p.Lys254Gln) | |
| 18 | g.23556396T>A | CA401777909 | NPC1 | c.1173A>T (p.Glu391Asp) n.1087A>T c.455A>T c.1224A>T (p.Glu408Asp) c.759A>T (p.Glu253Asp) | |
| 18 | g.23556396T>C | CA503325133 | NPC1 | c.1173A>G (p.Glu391=) n.1087A>G c.455A>G c.1224A>G (p.Glu408=) c.759A>G (p.Glu253=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.23556396T>G | CA401777911 | NPC1 | c.1173A>C (p.Glu391Asp) n.1087A>C c.455A>C c.1224A>C (p.Glu408Asp) c.759A>C (p.Glu253Asp) | |
| 18 | g.23556396T= | CA2290173710 | NPC1 | c.1173A= (p.Glu391=) n.1087A= c.455A= c.1224A= (p.Glu408=) c.759A= (p.Glu253=) | |
| 18 | g.23556397T>A | CA401777914 | NPC1 | c.1172A>T (p.Glu391Val) n.1086A>T c.454A>T c.1223A>T (p.Glu408Val) c.758A>T (p.Glu253Val) | |
| 18 | g.23556397T>C | CA401777918 | NPC1 | c.1172A>G (p.Glu391Gly) n.1086A>G c.454A>G c.1223A>G (p.Glu408Gly) c.758A>G (p.Glu253Gly) | |
| 18 | g.23556397T>G | CA401777915 | NPC1 | c.1172A>C (p.Glu391Ala) n.1086A>C c.454A>C c.1223A>C (p.Glu408Ala) c.758A>C (p.Glu253Ala) | ClinVar |
| 18 | g.23556398C>A | CA401777922 | NPC1 | c.1171G>T (p.Glu391Ter) n.1085G>T c.453G>T c.1222G>T (p.Glu408Ter) c.757G>T (p.Glu253Ter) | ClinVar dbSNP |
| 18 | g.23556398C= | CA2290173711 | NPC1 | c.1171G= (p.Glu391=) n.1085G= c.453G= c.1222G= (p.Glu408=) c.757G= (p.Glu253=) | |
| 18 | g.23556398C>G | CA401777924 | NPC1 | c.1171G>C (p.Glu391Gln) n.1085G>C c.453G>C c.1222G>C (p.Glu408Gln) c.757G>C (p.Glu253Gln) | |
| 18 | g.23556398C>T | CA401777926 | NPC1 | c.1171G>A (p.Glu391Lys) n.1085G>A c.453G>A c.1222G>A (p.Glu408Lys) c.757G>A (p.Glu253Lys) | |
| 18 | g.23556399C>A | CA503325134 | NPC1 | c.1170G>T (p.Leu390=) n.1084G>T c.452G>T c.1221G>T (p.Leu407=) c.756G>T (p.Leu252=) | |
| 18 | g.23556399C= | CA2290173712 | NPC1 | c.1170G= (p.Leu390=) n.1084G= c.452G= c.1221G= (p.Leu407=) c.756G= (p.Leu252=) | |
| 18 | g.23556399C>G | CA503325135 | NPC1 | c.1170G>C (p.Leu390=) n.1084G>C c.452G>C c.1221G>C (p.Leu407=) c.756G>C (p.Leu252=) | |
| 18 | g.23556399C>T | CA8913526 | NPC1 | c.1170G>A (p.Leu390=) n.1084G>A c.452G>A c.1221G>A (p.Leu407=) c.756G>A (p.Leu252=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23556400A= | CA2290173713 | NPC1 | c.1169T= (p.Leu390=) n.1083T= c.451T= c.1220T= (p.Leu407=) c.755T= (p.Leu252=) | |
| 18 | g.23556400A>C | CA401777931 | NPC1 | c.1169T>G (p.Leu390Arg) n.1083T>G c.451T>G c.1220T>G (p.Leu407Arg) c.755T>G (p.Leu252Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.23556400A>G | CA401777933 | NPC1 | c.1169T>C (p.Leu390Pro) n.1083T>C c.451T>C c.1220T>C (p.Leu407Pro) c.755T>C (p.Leu252Pro) | |
| 18 | g.23556400A>T | CA401777936 | NPC1 | c.1169T>A (p.Leu390Gln) n.1083T>A c.451T>A c.1220T>A (p.Leu407Gln) c.755T>A (p.Leu252Gln) | |
| 18 | g.23556401G>A | CA503325136 | NPC1 | c.1168C>T (p.Leu390=) n.1082C>T c.450C>T c.1219C>T (p.Leu407=) c.754C>T (p.Leu252=) | |
| 18 | g.23556401G>C | CA401777937 | NPC1 | c.1168C>G (p.Leu390Val) n.1082C>G c.450C>G c.1219C>G (p.Leu407Val) c.754C>G (p.Leu252Val) | |
| 18 | g.23556401G>T | CA401777938 | NPC1 | c.1168C>A (p.Leu390Met) n.1082C>A c.450C>A c.1219C>A (p.Leu407Met) c.754C>A (p.Leu252Met) | |
| 18 | g.23556402G>A | CA503325139 | NPC1 | c.1167C>T (p.Arg389=) n.1081C>T c.449C>T c.1218C>T (p.Arg406=) c.753C>T (p.Arg251=) | |
| 18 | g.23556402G>C | CA503325138 | NPC1 | c.1167C>G (p.Arg389=) n.1081C>G c.449C>G c.1218C>G (p.Arg406=) c.753C>G (p.Arg251=) | |
| 18 | g.23556402G>T | CA503325137 | NPC1 | c.1167C>A (p.Arg389=) n.1081C>A c.449C>A c.1218C>A (p.Arg406=) c.753C>A (p.Arg251=) | |
| 18 | g.23556403C>A | CA401777941 | NPC1 | c.1166G>T (p.Arg389Leu) n.1080G>T c.448G>T c.1217G>T (p.Arg406Leu) c.752G>T (p.Arg251Leu) | ClinVar dbSNP gnomAD v4 COSMIC |
| 18 | g.23556403C= | CA2290173714 | NPC1 | c.1166G= (p.Arg389=) n.1080G= c.448G= c.1217G= (p.Arg406=) c.752G= (p.Arg251=) | |
| 18 | g.23556403C>G | CA401777943 | NPC1 | c.1166G>C (p.Arg389Pro) n.1080G>C c.448G>C c.1217G>C (p.Arg406Pro) c.752G>C (p.Arg251Pro) | |
| 18 | g.23556403C>T | CA8913527 | NPC1 | c.1166G>A (p.Arg389His) n.1080G>A c.448G>A c.1217G>A (p.Arg406His) c.752G>A (p.Arg251His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23556404G>A | CA297069514 | NPC1 | c.1165C>T (p.Arg389Cys) n.1079C>T c.447C>T c.1216C>T (p.Arg406Cys) c.751C>T (p.Arg251Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23556404G>C | CA401777950 | NPC1 | c.1165C>G (p.Arg389Gly) n.1079C>G c.447C>G c.1216C>G (p.Arg406Gly) c.751C>G (p.Arg251Gly) | |
| 18 | g.23556404G= | CA2290173715 | NPC1 | c.1165C= (p.Arg389=) n.1079C= c.447C= c.1216C= (p.Arg406=) c.751C= (p.Arg251=) | |
| 18 | g.23556404G>T | CA401777947 | NPC1 | c.1165C>A (p.Arg389Ser) n.1079C>A c.447C>A c.1216C>A (p.Arg406Ser) c.751C>A (p.Arg251Ser) | |
| 18 | g.23556405A>C | CA503325140 | NPC1 | c.1164T>G (p.Ala388=) n.1078T>G c.446T>G c.1215T>G (p.Ala405=) c.750T>G (p.Ala250=) | |
| 18 | g.23556405A>G | CA503325141 | NPC1 | c.1164T>C (p.Ala388=) n.1078T>C c.446T>C c.1215T>C (p.Ala405=) c.750T>C (p.Ala250=) | |
| 18 | g.23556405A>T | CA503325142 | NPC1 | c.1164T>A (p.Ala388=) n.1078T>A c.446T>A c.1215T>A (p.Ala405=) c.750T>A (p.Ala250=) | |
| 18 | g.23556406G>A | CA401777954 | NPC1 | c.1163C>T (p.Ala388Val) n.1077C>T c.445C>T c.1214C>T (p.Ala405Val) c.749C>T (p.Ala250Val) | |
| 18 | g.23556406G>C | CA401777958 | NPC1 | c.1163C>G (p.Ala388Gly) n.1077C>G c.445C>G c.1214C>G (p.Ala405Gly) c.749C>G (p.Ala250Gly) | gnomAD v4 |
| 18 | g.23556406G>T | CA401777956 | NPC1 | c.1163C>A (p.Ala388Asp) n.1077C>A c.445C>A c.1214C>A (p.Ala405Asp) c.749C>A (p.Ala250Asp) | |
| 18 | g.23556407C>A | CA401777962 | NPC1 | c.1162G>T (p.Ala388Ser) n.1076G>T c.444G>T c.1213G>T (p.Ala405Ser) c.748G>T (p.Ala250Ser) | |
| 18 | g.23556407C= | CA2290173716 | NPC1 | c.1162G= (p.Ala388=) n.1076G= c.444G= c.1213G= (p.Ala405=) c.748G= (p.Ala250=) | |
| 18 | g.23556407C>G | CA401777967 | NPC1 | c.1162G>C (p.Ala388Pro) n.1076G>C c.444G>C c.1213G>C (p.Ala405Pro) c.748G>C (p.Ala250Pro) | ClinVar dbSNP |
| 18 | g.23556407C>T | CA401777965 | NPC1 | c.1162G>A (p.Ala388Thr) n.1076G>A c.444G>A c.1213G>A (p.Ala405Thr) c.748G>A (p.Ala250Thr) | gnomAD v4 |
| 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.23556408C>A | CA401777969 | NPC1 | c.1161G>T (p.Gln387His) n.1075G>T c.443G>T c.1212G>T (p.Gln404His) c.747G>T (p.Gln249His) | |
| 18 | g.23556408C>G | CA401777971 | NPC1 | c.1161G>C (p.Gln387His) n.1075G>C c.443G>C c.1212G>C (p.Gln404His) c.747G>C (p.Gln249His) | |
| 18 | g.23556408C>T | CA503325143 | NPC1 | c.1161G>A (p.Gln387=) n.1075G>A c.443G>A c.1212G>A (p.Gln404=) c.747G>A (p.Gln249=) | |
| 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.23556409T>A | CA401777973 | NPC1 | c.1160A>T (p.Gln387Leu) n.1074A>T c.442A>T c.1211A>T (p.Gln404Leu) c.746A>T (p.Gln249Leu) | |
| 18 | g.23556409T>C | CA401777975 | NPC1 | c.1160A>G (p.Gln387Arg) n.1074A>G c.442A>G c.1211A>G (p.Gln404Arg) c.746A>G (p.Gln249Arg) | gnomAD v4 |
| 18 | g.23556409T>G | CA401777978 | NPC1 | c.1160A>C (p.Gln387Pro) n.1074A>C c.442A>C c.1211A>C (p.Gln404Pro) c.746A>C (p.Gln249Pro) | |
| 18 | g.23556410G>A | CA401777982 | NPC1 | c.1159C>T (p.Gln387Ter) n.1073C>T c.441C>T c.1210C>T (p.Gln404Ter) c.745C>T (p.Gln249Ter) | |
| 18 | g.23556410G>C | CA401777985 | NPC1 | c.1159C>G (p.Gln387Glu) n.1073C>G c.441C>G c.1210C>G (p.Gln404Glu) c.745C>G (p.Gln249Glu) | |
| 18 | g.23556410G>T | CA401777988 | NPC1 | c.1159C>A (p.Gln387Lys) n.1073C>A c.441C>A c.1210C>A (p.Gln404Lys) c.745C>A (p.Gln249Lys) | gnomAD v4 |
| 18 | g.23556411G>A | CA503325144 | NPC1 | c.1158C>T (p.Ser386=) n.1072C>T c.440C>T c.1209C>T (p.Ser403=) c.744C>T (p.Ser248=) | |
| 18 | g.23556411G>C | CA401777992 | NPC1 | c.1158C>G (p.Ser386Arg) n.1072C>G c.440C>G c.1209C>G (p.Ser403Arg) c.744C>G (p.Ser248Arg) | |
| 18 | g.23556411G>T | CA401777994 | NPC1 | c.1158C>A (p.Ser386Arg) n.1072C>A c.440C>A c.1209C>A (p.Ser403Arg) c.744C>A (p.Ser248Arg) | |
| 18 | g.23556412C>A | CA401778006 | NPC1 | c.1157G>T (p.Ser386Ile) n.1071G>T c.439G>T c.1208G>T (p.Ser403Ile) c.743G>T (p.Ser248Ile) | |
| 18 | g.23556412C>G | CA401778002 | NPC1 | c.1157G>C (p.Ser386Thr) n.1071G>C c.439G>C c.1208G>C (p.Ser403Thr) c.743G>C (p.Ser248Thr) | |
| 18 | g.23556412C>T | CA401777999 | NPC1 | c.1157G>A (p.Ser386Asn) n.1071G>A c.439G>A c.1208G>A (p.Ser403Asn) c.743G>A (p.Ser248Asn) | |
| 18 | g.23556413T>A | CA401778010 | NPC1 | c.1156A>T (p.Ser386Cys) n.1070A>T c.438A>T c.1207A>T (p.Ser403Cys) c.742A>T (p.Ser248Cys) | |
| 18 | g.23556413T>C | CA401778011 | NPC1 | c.1156A>G (p.Ser386Gly) n.1070A>G c.438A>G c.1207A>G (p.Ser403Gly) c.742A>G (p.Ser248Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.23556413T>G | CA401778014 | NPC1 | c.1156A>C (p.Ser386Arg) n.1070A>C c.438A>C c.1207A>C (p.Ser403Arg) c.742A>C (p.Ser248Arg) | |
| 18 | g.23556413T= | CA2290173718 | NPC1 | c.1156A= (p.Ser386=) n.1070A= c.438A= c.1207A= (p.Ser403=) c.742A= (p.Ser248=) | |
| 18 | g.23556414G>A | CA503325145 | NPC1 | c.1155C>T (p.Ser385=) n.1069C>T c.437C>T c.1206C>T (p.Ser402=) c.741C>T (p.Ser247=) | |
| 18 | g.23556414G>C | CA401778019 | NPC1 | c.1155C>G (p.Ser385Arg) n.1069C>G c.437C>G c.1206C>G (p.Ser402Arg) c.741C>G (p.Ser247Arg) | |
| 18 | g.23556414G>T | CA401778021 | NPC1 | c.1155C>A (p.Ser385Arg) n.1069C>A c.437C>A c.1206C>A (p.Ser402Arg) c.741C>A (p.Ser247Arg) |