Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) |