Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
18 | g.23556415C>A | CA401778026 | NPC1 | c.1154G>T (p.Ser385Ile) n.1068G>T c.436G>T c.1205G>T (p.Ser402Ile) c.740G>T (p.Ser247Ile) | |
18 | g.23556415C>G | CA401778028 | NPC1 | c.1154G>C (p.Ser385Thr) n.1068G>C c.436G>C c.1205G>C (p.Ser402Thr) c.740G>C (p.Ser247Thr) | |
18 | g.23556415C>T | CA401778031 | NPC1 | c.1154G>A (p.Ser385Asn) n.1068G>A c.436G>A c.1205G>A (p.Ser402Asn) c.740G>A (p.Ser247Asn) | |
18 | g.23556416T>A | CA401778040 | NPC1 | c.1153A>T (p.Ser385Cys) n.1067A>T c.435A>T c.1204A>T (p.Ser402Cys) c.739A>T (p.Ser247Cys) | |
18 | g.23556416T>C | CA401778043 | NPC1 | c.1153A>G (p.Ser385Gly) n.1067A>G c.435A>G c.1204A>G (p.Ser402Gly) c.739A>G (p.Ser247Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23556416T>G | CA401778046 | NPC1 | c.1153A>C (p.Ser385Arg) n.1067A>C c.435A>C c.1204A>C (p.Ser402Arg) c.739A>C (p.Ser247Arg) | |
18 | g.23556416T= | CA2290173719 | NPC1 | c.1153A= (p.Ser385=) n.1067A= c.435A= c.1204A= (p.Ser402=) c.739A= (p.Ser247=) | |
18 | g.23556417G>A | CA503325148 | NPC1 | c.1152C>T (p.Pro384=) n.1066C>T c.434C>T c.1203C>T (p.Pro401=) c.738C>T (p.Pro246=) | gnomAD v4 |
18 | g.23556417G>C | CA503325147 | NPC1 | c.1152C>G (p.Pro384=) n.1066C>G c.434C>G c.1203C>G (p.Pro401=) c.738C>G (p.Pro246=) | ClinVar dbSNP |
18 | g.23556417G>T | CA503325146 | NPC1 | c.1152C>A (p.Pro384=) n.1066C>A c.434C>A c.1203C>A (p.Pro401=) c.738C>A (p.Pro246=) | |
18 | g.23556421dup | CA2573155253 | NPC1 | c.1152dup (p.Ser385GlnfsTer12) n.1066dup c.434dup c.1203dup (p.Ser402GlnfsTer12) c.738dup (p.Ser247GlnfsTer12) | ClinVar dbSNP |
18 | g.23556418G>A | CA401778053 | NPC1 | c.1151C>T (p.Pro384Leu) n.1065C>T c.433C>T c.1202C>T (p.Pro401Leu) c.737C>T (p.Pro246Leu) | |
18 | g.23556418G>C | CA401778056 | NPC1 | c.1151C>G (p.Pro384Arg) n.1065C>G c.433C>G c.1202C>G (p.Pro401Arg) c.737C>G (p.Pro246Arg) | |
18 | g.23556418G>T | CA401778050 | NPC1 | c.1151C>A (p.Pro384His) n.1065C>A c.433C>A c.1202C>A (p.Pro401His) c.737C>A (p.Pro246His) | |
18 | g.23556419G>A | CA401778059 | NPC1 | c.1150C>T (p.Pro384Ser) n.1064C>T c.432C>T c.1201C>T (p.Pro401Ser) c.736C>T (p.Pro246Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.23556419G>C | CA401778063 | NPC1 | c.1150C>G (p.Pro384Ala) n.1064C>G c.432C>G c.1201C>G (p.Pro401Ala) c.736C>G (p.Pro246Ala) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.23556419G= | CA2290173720 | NPC1 | c.1150C= (p.Pro384=) n.1064C= c.432C= c.1201C= (p.Pro401=) c.736C= (p.Pro246=) | |
18 | g.23556419G>T | CA401778066 | NPC1 | c.1150C>A (p.Pro384Thr) n.1064C>A c.432C>A c.1201C>A (p.Pro401Thr) c.736C>A (p.Pro246Thr) | dbSNP gnomAD v4 |
18 | g.23556420G>A | CA503325151 | NPC1 | c.1149C>T (p.Ala383=) n.1063C>T c.431C>T c.1200C>T (p.Ala400=) c.735C>T (p.Ala245=) | ClinVar dbSNP gnomAD v4 |
18 | g.23556420G>C | CA503325150 | NPC1 | c.1149C>G (p.Ala383=) n.1063C>G c.431C>G c.1200C>G (p.Ala400=) c.735C>G (p.Ala245=) | |
18 | g.23556420G= | CA2290173721 | NPC1 | c.1149C= (p.Ala383=) n.1063C= c.431C= c.1200C= (p.Ala400=) c.735C= (p.Ala245=) | |
18 | g.23556420G>T | CA503325149 | NPC1 | c.1149C>A (p.Ala383=) n.1063C>A c.431C>A c.1200C>A (p.Ala400=) c.735C>A (p.Ala245=) | |
18 | g.23556421G>A | CA401778069 | NPC1 | c.1148C>T (p.Ala383Val) n.1062C>T c.430C>T c.1199C>T (p.Ala400Val) c.734C>T (p.Ala245Val) | |
18 | g.23556421G>C | CA401778073 | NPC1 | c.1148C>G (p.Ala383Gly) n.1062C>G c.430C>G c.1199C>G (p.Ala400Gly) c.734C>G (p.Ala245Gly) | gnomAD v4 |
18 | g.23556421G>T | CA401778076 | NPC1 | c.1148C>A (p.Ala383Asp) n.1062C>A c.430C>A c.1199C>A (p.Ala400Asp) c.734C>A (p.Ala245Asp) | |
18 | g.23556422C>A | CA401778077 | NPC1 | c.1147G>T (p.Ala383Ser) n.1061G>T c.429G>T c.1198G>T (p.Ala400Ser) c.733G>T (p.Ala245Ser) | |
18 | g.23556422C>G | CA401778078 | NPC1 | c.1147G>C (p.Ala383Pro) n.1061G>C c.429G>C c.1198G>C (p.Ala400Pro) c.733G>C (p.Ala245Pro) | |
18 | g.23556422C>T | CA401778079 | NPC1 | c.1147G>A (p.Ala383Thr) n.1061G>A c.429G>A c.1198G>A (p.Ala400Thr) c.733G>A (p.Ala245Thr) | gnomAD v4 |
18 | g.23556423T>A | CA503325152 | NPC1 | c.1146A>T (p.Ser382=) n.1060A>T c.428A>T c.1197A>T (p.Ser399=) c.732A>T (p.Ser244=) | |
18 | g.23556423T>C | CA503325154 | NPC1 | c.1146A>G (p.Ser382=) n.1060A>G c.428A>G c.1197A>G (p.Ser399=) c.732A>G (p.Ser244=) | COSMIC |
18 | g.23556423T>G | CA503325153 | NPC1 | c.1146A>C (p.Ser382=) n.1060A>C c.428A>C c.1197A>C (p.Ser399=) c.732A>C (p.Ser244=) | |
18 | g.23556424G>A | CA401778080 | NPC1 | c.1145C>T (p.Ser382Leu) n.1059C>T c.427C>T c.1196C>T (p.Ser399Leu) c.731C>T (p.Ser244Leu) | |
18 | g.23556424G>C | CA401778082 | NPC1 | c.1145C>G (p.Ser382Ter) n.1059C>G c.427C>G c.1196C>G (p.Ser399Ter) c.731C>G (p.Ser244Ter) | |
18 | g.23556424G>T | CA401778084 | NPC1 | c.1145C>A (p.Ser382Ter) n.1059C>A c.427C>A c.1196C>A (p.Ser399Ter) c.731C>A (p.Ser244Ter) | |
18 | g.23556425A= | CA2290173722 | NPC1 | c.1144T= (p.Ser382=) n.1058T= c.426T= c.1195T= (p.Ser399=) c.730T= (p.Ser244=) | |
18 | g.23556425A>C | CA401778089 | NPC1 | c.1144T>G (p.Ser382Ala) n.1058T>G c.426T>G c.1195T>G (p.Ser399Ala) c.730T>G (p.Ser244Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23556425A>G | CA401778092 | NPC1 | c.1144T>C (p.Ser382Pro) n.1058T>C c.426T>C c.1195T>C (p.Ser399Pro) c.730T>C (p.Ser244Pro) | |
18 | g.23556425A>T | CA401778086 | NPC1 | c.1144T>A (p.Ser382Thr) n.1058T>A c.426T>A c.1195T>A (p.Ser399Thr) c.730T>A (p.Ser244Thr) | |
18 | g.23556426C>A | CA401778096 | NPC1 | c.1143G>T (p.Trp381Cys) n.1057G>T c.425G>T c.1194G>T (p.Trp398Cys) c.729G>T (p.Trp243Cys) | |
18 | g.23556426C>G | CA401778099 | NPC1 | c.1143G>C (p.Trp381Cys) n.1057G>C c.425G>C c.1194G>C (p.Trp398Cys) c.729G>C (p.Trp243Cys) | |
18 | g.23556426C>T | CA401778100 | NPC1 | c.1143G>A (p.Trp381Ter) n.1057G>A c.425G>A c.1194G>A (p.Trp398Ter) c.729G>A (p.Trp243Ter) | |
18 | g.23556427C>A | CA401778103 | NPC1 | c.1142G>T (p.Trp381Leu) n.1056G>T c.424G>T c.1193G>T (p.Trp398Leu) c.728G>T (p.Trp243Leu) | |
18 | g.23556427C= | CA2290173724 | NPC1 | c.1142G= (p.Trp381=) n.1056G= c.424G= c.1193G= (p.Trp398=) c.728G= (p.Trp243=) | |
18 | g.23556427C>G | CA401778104 | NPC1 | c.1142G>C (p.Trp381Ser) n.1056G>C c.424G>C c.1193G>C (p.Trp398Ser) c.728G>C (p.Trp243Ser) | |
18 | g.23556427C>T | CA275420 | NPC1 | c.1142G>A (p.Trp381Ter) n.1056G>A c.424G>A c.1193G>A (p.Trp398Ter) c.728G>A (p.Trp243Ter) | ClinVar dbSNP |
18 | g.23556427_23556429delinsCAG | CA2290173723 | NPC1 | c.1140_1142delinsCTG (p.Leu380=) n.1054_1056delinsCTG c.422_424delinsCTG c.1191_1193delinsCTG (p.Leu397=) c.726_728delinsCTG (p.Leu242=) | |
18 | g.23556428A>C | CA401778105 | NPC1 | c.1141T>G (p.Trp381Gly) n.1055T>G c.423T>G c.1192T>G (p.Trp398Gly) c.727T>G (p.Trp243Gly) | |
18 | g.23556428A>G | CA401778111 | NPC1 | c.1141T>C (p.Trp381Arg) n.1055T>C c.423T>C c.1192T>C (p.Trp398Arg) c.727T>C (p.Trp243Arg) | |
18 | g.23556428A>T | CA401778108 | NPC1 | c.1141T>A (p.Trp381Arg) n.1055T>A c.423T>A c.1192T>A (p.Trp398Arg) c.727T>A (p.Trp243Arg) | |
18 | g.23556430_23556431del | CA913190399 | NPC1 | c.1140_1141del (p.Trp381ValfsTer15) n.1054_1055del c.422_423del c.1191_1192del (p.Trp398ValfsTer15) c.726_727del (p.Trp243ValfsTer15) | ClinVar dbSNP |
18 | g.23556429G>A | CA503325155 | NPC1 | c.1140C>T (p.Leu380=) n.1054C>T c.422C>T c.1191C>T (p.Leu397=) c.726C>T (p.Leu242=) | |
18 | g.23556429G>C | CA8913528 | NPC1 | c.1140C>G (p.Leu380=) n.1054C>G c.422C>G c.1191C>G (p.Leu397=) c.726C>G (p.Leu242=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23556429G= | CA2290173725 | NPC1 | c.1140C= (p.Leu380=) n.1054C= c.422C= c.1191C= (p.Leu397=) c.726C= (p.Leu242=) | |
18 | g.23556429G>T | CA503325156 | NPC1 | c.1140C>A (p.Leu380=) n.1054C>A c.422C>A c.1191C>A (p.Leu397=) c.726C>A (p.Leu242=) | |
18 | g.23556430A>C | CA401778119 | NPC1 | c.1139T>G (p.Leu380Arg) n.1053T>G c.421T>G c.1190T>G (p.Leu397Arg) c.725T>G (p.Leu242Arg) | |
18 | g.23556430A>G | CA401778125 | NPC1 | c.1139T>C (p.Leu380Pro) n.1053T>C c.421T>C c.1190T>C (p.Leu397Pro) c.725T>C (p.Leu242Pro) | |
18 | g.23556430A>T | CA401778127 | NPC1 | c.1139T>A (p.Leu380His) n.1053T>A c.421T>A c.1190T>A (p.Leu397His) c.725T>A (p.Leu242His) | |
18 | g.23556431G>A | CA401778136 | NPC1 | c.1138C>T (p.Leu380Phe) n.1052C>T c.420C>T c.1189C>T (p.Leu397Phe) c.724C>T (p.Leu242Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23556431G>C | CA401778132 | NPC1 | c.1138C>G (p.Leu380Val) n.1052C>G c.420C>G c.1189C>G (p.Leu397Val) c.724C>G (p.Leu242Val) | |
18 | g.23556431G= | CA2290173726 | NPC1 | c.1138C= (p.Leu380=) n.1052C= c.420C= c.1189C= (p.Leu397=) c.724C= (p.Leu242=) | |
18 | g.23556431G>T | CA401778129 | NPC1 | c.1138C>A (p.Leu380Ile) n.1052C>A c.420C>A c.1189C>A (p.Leu397Ile) c.724C>A (p.Leu242Ile) | |
18 | g.23556432G>A | CA503325157 | NPC1 | c.1137C>T (p.Asp379=) n.1051C>T c.419C>T c.1188C>T (p.Asp396=) c.723C>T (p.Asp241=) | gnomAD v4 |
18 | g.23556432G>C | CA401778140 | NPC1 | c.1137C>G (p.Asp379Glu) n.1051C>G c.419C>G c.1188C>G (p.Asp396Glu) c.723C>G (p.Asp241Glu) | |
18 | g.23556432G>T | CA401778143 | NPC1 | c.1137C>A (p.Asp379Glu) n.1051C>A c.419C>A c.1188C>A (p.Asp396Glu) c.723C>A (p.Asp241Glu) | |
18 | g.23556433T>A | CA401778147 | NPC1 | c.1136A>T (p.Asp379Val) n.1050A>T c.418A>T c.1187A>T (p.Asp396Val) c.722A>T (p.Asp241Val) | |
18 | g.23556433T>C | CA401778150 | NPC1 | c.1136A>G (p.Asp379Gly) n.1050A>G c.418A>G c.1187A>G (p.Asp396Gly) c.722A>G (p.Asp241Gly) | |
18 | g.23556433T>G | CA401778157 | NPC1 | c.1136A>C (p.Asp379Ala) n.1050A>C c.418A>C c.1187A>C (p.Asp396Ala) c.722A>C (p.Asp241Ala) | |
18 | g.23556434C>A | CA401778161 | NPC1 | c.1135G>T (p.Asp379Tyr) n.1049G>T c.417G>T c.1186G>T (p.Asp396Tyr) c.721G>T (p.Asp241Tyr) | |
18 | g.23556434C>G | CA401778164 | NPC1 | c.1135G>C (p.Asp379His) n.1049G>C c.417G>C c.1186G>C (p.Asp396His) c.721G>C (p.Asp241His) | COSMIC COSMIC |
18 | g.23556434C>T | CA401778168 | NPC1 | c.1135G>A (p.Asp379Asn) n.1049G>A c.417G>A c.1186G>A (p.Asp396Asn) c.721G>A (p.Asp241Asn) | |
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=) | ClinVar 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 |
18 | g.23556448G>A | CA401778243 | NPC1 | c.1121C>T (p.Thr374Ile) n.1035C>T c.403C>T c.1172C>T (p.Thr391Ile) c.707C>T (p.Thr236Ile) | |
18 | g.23556448G>C | CA401778246 | NPC1 | c.1121C>G (p.Thr374Arg) n.1035C>G c.403C>G c.1172C>G (p.Thr391Arg) c.707C>G (p.Thr236Arg) | |
18 | g.23556448G>T | CA401778249 | NPC1 | c.1121C>A (p.Thr374Lys) n.1035C>A c.403C>A c.1172C>A (p.Thr391Lys) c.707C>A (p.Thr236Lys) | |
18 | g.23556449T>A | CA401778253 | NPC1 | c.1120A>T (p.Thr374Ser) n.1034A>T c.402A>T c.1171A>T (p.Thr391Ser) c.706A>T (p.Thr236Ser) | |
18 | g.23556449T>C | CA401778256 | NPC1 | c.1120A>G (p.Thr374Ala) n.1034A>G c.402A>G c.1171A>G (p.Thr391Ala) c.706A>G (p.Thr236Ala) | gnomAD v4 |
18 | g.23556449T>G | CA401778258 | NPC1 | c.1120A>C (p.Thr374Pro) n.1034A>C c.402A>C c.1171A>C (p.Thr391Pro) c.706A>C (p.Thr236Pro) | |
18 | g.23556450G>A | CA503325171 | NPC1 | c.1119C>T (p.Val373=) n.1033C>T c.401C>T c.1170C>T (p.Val390=) c.705C>T (p.Val235=) | |
18 | g.23556450G>C | CA503325172 | NPC1 | c.1119C>G (p.Val373=) n.1033C>G c.401C>G c.1170C>G (p.Val390=) c.705C>G (p.Val235=) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.23556450G= | CA2290173733 | NPC1 | c.1119C= (p.Val373=) n.1033C= c.401C= c.1170C= (p.Val390=) c.705C= (p.Val235=) | |
18 | g.23556450G>T | CA503325173 | NPC1 | c.1119C>A (p.Val373=) n.1033C>A c.401C>A c.1170C>A (p.Val390=) c.705C>A (p.Val235=) | |
18 | g.23556451A>C | CA401778261 | NPC1 | c.1118T>G (p.Val373Gly) n.1032T>G c.400T>G c.1169T>G (p.Val390Gly) c.704T>G (p.Val235Gly) | |
18 | g.23556451A>G | CA401778262 | NPC1 | c.1118T>C (p.Val373Ala) n.1032T>C c.400T>C c.1169T>C (p.Val390Ala) c.704T>C (p.Val235Ala) | |
18 | g.23556451A>T | CA401778263 | NPC1 | c.1118T>A (p.Val373Asp) n.1032T>A c.400T>A c.1169T>A (p.Val390Asp) c.704T>A (p.Val235Asp) | |
18 | g.23556452C>A | CA401778267 | NPC1 | c.1117G>T (p.Val373Phe) n.1031G>T c.399G>T c.1168G>T (p.Val390Phe) c.703G>T (p.Val235Phe) | gnomAD v4 |
18 | g.23556452C= | CA2290173734 | NPC1 | c.1117G= (p.Val373=) n.1031G= c.399G= c.1168G= (p.Val390=) c.703G= (p.Val235=) | |
18 | g.23556452C>G | CA401778268 | NPC1 | c.1117G>C (p.Val373Leu) n.1031G>C c.399G>C c.1168G>C (p.Val390Leu) c.703G>C (p.Val235Leu) | |
18 | g.23556452C>T | CA8913532 | NPC1 | c.1117G>A (p.Val373Ile) n.1031G>A c.399G>A c.1168G>A (p.Val390Ile) c.703G>A (p.Val235Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23556453C>A | CA503325174 | NPC1 | c.1116G>T (p.Arg372=) n.1030G>T c.398G>T c.1167G>T (p.Arg389=) c.702G>T (p.Arg234=) | |
18 | g.23556453C= | CA2290173735 | NPC1 | c.1116G= (p.Arg372=) n.1030G= c.398G= c.1167G= (p.Arg389=) c.702G= (p.Arg234=) | |
18 | g.23556453C>G | CA503325175 | NPC1 | c.1116G>C (p.Arg372=) n.1030G>C c.398G>C c.1167G>C (p.Arg389=) c.702G>C (p.Arg234=) | dbSNP gnomAD v4 |
18 | g.23556453C>T | CA297069556 | NPC1 | c.1116G>A (p.Arg372=) n.1030G>A c.398G>A c.1167G>A (p.Arg389=) c.702G>A (p.Arg234=) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
18 | g.23556454C>A | CA401778270 | NPC1 | c.1115G>T (p.Arg372Leu) n.1029G>T c.397G>T c.1166G>T (p.Arg389Leu) c.701G>T (p.Arg234Leu) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.23556454C= | CA2290173736 | NPC1 | c.1115G= (p.Arg372=) n.1029G= c.397G= c.1166G= (p.Arg389=) c.701G= (p.Arg234=) | |
18 | g.23556454C>G | CA401778273 | NPC1 | c.1115G>C (p.Arg372Pro) n.1029G>C c.397G>C c.1166G>C (p.Arg389Pro) c.701G>C (p.Arg234Pro) | |
18 | g.23556454C>T | CA8913533 | NPC1 | c.1115G>A (p.Arg372Gln) n.1029G>A c.397G>A c.1166G>A (p.Arg389Gln) c.701G>A (p.Arg234Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23556454_23556455insA | CA2499225068 | NPC1 | c.1114_1115insT (p.Arg372LeufsTer8) n.1028_1029insT c.396_397insT c.1165_1166insT (p.Arg389LeufsTer8) c.700_701insT (p.Arg234LeufsTer8) | ClinVar dbSNP |
18 | g.23556455G>A | CA401778276 | NPC1 | c.1114C>T (p.Arg372Trp) n.1028C>T c.396C>T c.1165C>T (p.Arg389Trp) c.700C>T (p.Arg234Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
18 | g.23556455G>C | CA401778278 | NPC1 | c.1114C>G (p.Arg372Gly) n.1028C>G c.396C>G c.1165C>G (p.Arg389Gly) c.700C>G (p.Arg234Gly) | gnomAD v4 |
18 | g.23556455G= | CA2290173737 | NPC1 | c.1114C= (p.Arg372=) n.1028C= c.396C= c.1165C= (p.Arg389=) c.700C= (p.Arg234=) | |
18 | g.23556455G>T | CA503325176 | NPC1 | c.1114C>A (p.Arg372=) n.1028C>A c.396C>A c.1165C>A (p.Arg389=) c.700C>A (p.Arg234=) | |
18 | g.23556456G>A | CA503325179 | NPC1 | c.1113C>T (p.Val371=) n.1027C>T c.395C>T c.1164C>T (p.Val388=) c.699C>T (p.Val233=) | |
18 | g.23556456G>C | CA503325178 | NPC1 | c.1113C>G (p.Val371=) n.1027C>G c.395C>G c.1164C>G (p.Val388=) c.699C>G (p.Val233=) | |
18 | g.23556456G>T | CA503325177 | NPC1 | c.1113C>A (p.Val371=) n.1027C>A c.395C>A c.1164C>A (p.Val388=) c.699C>A (p.Val233=) | |
18 | g.23556456_23556459del | CA2580095677 | NPC1 | c.1110_1113del (p.Val371GlyfsTer?) n.1024_1027del c.392_395del c.1161_1164del (p.Val388GlyfsTer?) c.696_699del (p.Val233GlyfsTer?) | ClinVar |
18 | g.23556457A>C | CA401778284 | NPC1 | c.1112T>G (p.Val371Gly) n.1026T>G c.394T>G c.1163T>G (p.Val388Gly) c.698T>G (p.Val233Gly) | |
18 | g.23556457A>G | CA401778282 | NPC1 | c.1112T>C (p.Val371Ala) n.1026T>C c.394T>C c.1163T>C (p.Val388Ala) c.698T>C (p.Val233Ala) | |
18 | g.23556457A>T | CA401778281 | NPC1 | c.1112T>A (p.Val371Asp) n.1026T>A c.394T>A c.1163T>A (p.Val388Asp) c.698T>A (p.Val233Asp) | |
18 | g.23556457_23556458delinsAC | CA2290173738 | NPC1 | c.1111_1112delinsGT (p.Val371=) n.1025_1026delinsGT c.393_394delinsGT c.1162_1163delinsGT (p.Val388=) c.697_698delinsGT (p.Val233=) | |
18 | g.23556458del | CA8913534 | NPC1 | c.1111del (p.Val371SerfsTer?) n.1025del c.393del c.1162del (p.Val388SerfsTer?) c.697del (p.Val233SerfsTer?) | dbSNP ExAC gnomAD v2 |
18 | g.23556458C>A | CA401778286 | NPC1 | c.1111G>T (p.Val371Phe) n.1025G>T c.393G>T c.1162G>T (p.Val388Phe) c.697G>T (p.Val233Phe) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.23556458C= | CA2290173739 | NPC1 | c.1111G= (p.Val371=) n.1025G= c.393G= c.1162G= (p.Val388=) c.697G= (p.Val233=) | |
18 | g.23556458C>G | CA401778287 | NPC1 | c.1111G>C (p.Val371Leu) n.1025G>C c.393G>C c.1162G>C (p.Val388Leu) c.697G>C (p.Val233Leu) | |
18 | g.23556458C>T | CA401778289 | NPC1 | c.1111G>A (p.Val371Ile) n.1025G>A c.393G>A c.1162G>A (p.Val388Ile) c.697G>A (p.Val233Ile) | |
18 | g.23556459A>C | CA401778293 | NPC1 | c.1110T>G (p.Phe370Leu) n.1024T>G c.392T>G c.1161T>G (p.Phe387Leu) c.696T>G (p.Phe232Leu) | |
18 | g.23556459A>G | CA503325180 | NPC1 | c.1110T>C (p.Phe370=) n.1024T>C c.392T>C c.1161T>C (p.Phe387=) c.696T>C (p.Phe232=) | ClinVar |
18 | g.23556459A>T | CA401778295 | NPC1 | c.1110T>A (p.Phe370Leu) n.1024T>A c.392T>A c.1161T>A (p.Phe387Leu) c.696T>A (p.Phe232Leu) | |
18 | g.23556460A>C | CA401778301 | NPC1 | c.1109T>G (p.Phe370Cys) n.1023T>G c.391T>G c.1160T>G (p.Phe387Cys) c.695T>G (p.Phe232Cys) | |
18 | g.23556460A>G | CA401778297 | NPC1 | c.1109T>C (p.Phe370Ser) n.1023T>C c.391T>C c.1160T>C (p.Phe387Ser) c.695T>C (p.Phe232Ser) | |
18 | g.23556460A>T | CA401778299 | NPC1 | c.1109T>A (p.Phe370Tyr) n.1023T>A c.391T>A c.1160T>A (p.Phe387Tyr) c.695T>A (p.Phe232Tyr) | |
18 | g.23556461A>C | CA401778305 | NPC1 | c.1108T>G (p.Phe370Val) n.1022T>G c.390T>G c.1159T>G (p.Phe387Val) c.694T>G (p.Phe232Val) | |
18 | g.23556461A>G | CA401778311 | NPC1 | c.1108T>C (p.Phe370Leu) n.1022T>C c.390T>C c.1159T>C (p.Phe387Leu) c.694T>C (p.Phe232Leu) | |
18 | g.23556461A>T | CA401778308 | NPC1 | c.1108T>A (p.Phe370Ile) n.1022T>A c.390T>A c.1159T>A (p.Phe387Ile) c.694T>A (p.Phe232Ile) | |
18 | g.23556462C>A | CA503325181 | NPC1 | c.1107G>T (p.Val369=) n.1021G>T c.389G>T c.1158G>T (p.Val386=) c.693G>T (p.Val231=) | |
18 | g.23556462C= | CA2290173740 | NPC1 | c.1107G= (p.Val369=) n.1021G= c.389G= c.1158G= (p.Val386=) c.693G= (p.Val231=) | |
18 | g.23556462C>G | CA503325183 | NPC1 | c.1107G>C (p.Val369=) n.1021G>C c.389G>C c.1158G>C (p.Val386=) c.693G>C (p.Val231=) | |
18 | g.23556462C>T | CA503325182 | NPC1 | c.1107G>A (p.Val369=) n.1021G>A c.389G>A c.1158G>A (p.Val386=) c.693G>A (p.Val231=) | ClinVar dbSNP |