| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23560363_23560369del | CA2580095624 | NPC1 | c.749_755del (p.Lys250SerfsTer?) n.663_669del c.284_290del (p.Lys95SerfsTer?) | ClinVar |
| 18 | g.23560368del | CA2580095626 | NPC1 | c.747del (p.Lys250SerfsTer?) n.661del c.282del (p.Lys95SerfsTer?) | ClinVar |
| 18 | g.23560368G>A | CA8913655 | NPC1 | c.744C>T (p.Gly248=) n.658C>T c.279C>T (p.Gly93=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23560368G>C | CA503522135 | NPC1 | c.744C>G (p.Gly248=) n.658C>G c.279C>G (p.Gly93=) | |
| 18 | g.23560368G= | CA2290175721 | NPC1 | c.744C= (p.Gly248=) n.658C= c.279C= (p.Gly93=) | |
| 18 | g.23560368G>T | CA503522136 | NPC1 | c.744C>A (p.Gly248=) n.658C>A c.279C>A (p.Gly93=) | |
| 18 | g.23560369C>A | CA401781217 | NPC1 | c.743G>T (p.Gly248Val) n.657G>T c.278G>T (p.Gly93Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23560369C= | CA2290175722 | NPC1 | c.743G= (p.Gly248=) n.657G= c.278G= (p.Gly93=) | |
| 18 | g.23560369C>G | CA401781218 | NPC1 | c.743G>C (p.Gly248Ala) n.657G>C c.278G>C (p.Gly93Ala) | |
| 18 | g.23560369C>T | CA401781219 | NPC1 | c.743G>A (p.Gly248Asp) n.657G>A c.278G>A (p.Gly93Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.23560370C>A | CA401781220 | NPC1 | c.742G>T (p.Gly248Cys) n.656G>T c.277G>T (p.Gly93Cys) | |
| 18 | g.23560370C>G | CA401781222 | NPC1 | c.742G>C (p.Gly248Arg) n.656G>C c.277G>C (p.Gly93Arg) | |
| 18 | g.23560370C>T | CA401781221 | NPC1 | c.742G>A (p.Gly248Ser) n.656G>A c.277G>A (p.Gly93Ser) | |
| 18 | g.23560372_23560373del | CA2697555342 | NPC1 | c.741_742del (p.Cys247TrpfsTer?) n.655_656del c.276_277del (p.Cys92TrpfsTer?) | ClinVar |
| 18 | g.23560371A>C | CA401781223 | NPC1 | c.741T>G (p.Cys247Trp) n.655T>G c.276T>G (p.Cys92Trp) | |
| 18 | g.23560371A>G | CA503522137 | NPC1 | c.741T>C (p.Cys247=) n.655T>C c.276T>C (p.Cys92=) | ClinVar dbSNP gnomAD v4 |
| 18 | g.23560371A>T | CA401781224 | NPC1 | c.741T>A (p.Cys247Ter) n.655T>A c.276T>A (p.Cys92Ter) | |
| 18 | g.23560372C>A | CA401781225 | NPC1 | c.740G>T (p.Cys247Phe) n.654G>T c.275G>T (p.Cys92Phe) | |
| 18 | g.23560372C>G | CA401781226 | NPC1 | c.740G>C (p.Cys247Ser) n.654G>C c.275G>C (p.Cys92Ser) | |
| 18 | g.23560372C>T | CA401781227 | NPC1 | c.740G>A (p.Cys247Tyr) n.654G>A c.275G>A (p.Cys92Tyr) | |
| 18 | g.23560373A>C | CA401781228 | NPC1 | c.739T>G (p.Cys247Gly) n.653T>G c.274T>G (p.Cys92Gly) | |
| 18 | g.23560373A>G | CA401781229 | NPC1 | c.739T>C (p.Cys247Arg) n.653T>C c.274T>C (p.Cys92Arg) | |
| 18 | g.23560373A>T | CA401781230 | NPC1 | c.739T>A (p.Cys247Ser) n.653T>A c.274T>A (p.Cys92Ser) | |
| 18 | g.23560374G>A | CA297074687 | NPC1 | c.738C>T (p.Val246=) n.652C>T c.273C>T (p.Val91=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23560374G>C | CA503522138 | NPC1 | c.738C>G (p.Val246=) n.652C>G c.273C>G (p.Val91=) | |
| 18 | g.23560374G= | CA2290175723 | NPC1 | c.738C= (p.Val246=) n.652C= c.273C= (p.Val91=) | |
| 18 | g.23560374G>T | CA503522139 | NPC1 | c.738C>A (p.Val246=) n.652C>A c.273C>A (p.Val91=) | |
| 18 | g.23560374_23560375delinsGA | CA2290175724 | NPC1 | c.737_738delinsTC (p.Val246=) n.651_652delinsTC c.272_273delinsTC (p.Val91=) | |
| 18 | g.23560374_23560375delinsTG | CA913190527 | NPC1 | c.737_738delinsCA (p.Val246Ala) n.651_652delinsCA c.272_273delinsCA (p.Val91Ala) | ClinVar dbSNP |
| 18 | g.23560375A>C | CA401781231 | NPC1 | c.737T>G (p.Val246Gly) n.651T>G c.272T>G (p.Val91Gly) | |
| 18 | g.23560375A>G | CA401781232 | NPC1 | c.737T>C (p.Val246Ala) n.651T>C c.272T>C (p.Val91Ala) | |
| 18 | g.23560375A>T | CA401781233 | NPC1 | c.737T>A (p.Val246Asp) n.651T>A c.272T>A (p.Val91Asp) | |
| 18 | g.23560376C>A | CA8913657 | NPC1 | c.736G>T (p.Val246Phe) n.650G>T c.271G>T (p.Val91Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23560376C= | CA2290175725 | NPC1 | c.736G= (p.Val246=) n.650G= c.271G= (p.Val91=) | |
| 18 | g.23560376C>G | CA401781234 | NPC1 | c.736G>C (p.Val246Leu) n.650G>C c.271G>C (p.Val91Leu) | |
| 18 | g.23560376C>T | CA8913656 | NPC1 | c.736G>A (p.Val246Ile) n.650G>A c.271G>A (p.Val91Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23560377A>C | CA401781235 | NPC1 | c.735T>G (p.Ile245Met) n.649T>G c.270T>G (p.Ile90Met) | gnomAD v4 |
| 18 | g.23560377A>G | CA503522140 | NPC1 | c.735T>C (p.Ile245=) n.649T>C c.270T>C (p.Ile90=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23560377A>T | CA503522141 | NPC1 | c.735T>A (p.Ile245=) n.649T>A c.270T>A (p.Ile90=) | |
| 18 | g.23560378A= | CA2290175726 | NPC1 | c.734T= (p.Ile245=) n.648T= c.269T= (p.Ile90=) | |
| 18 | g.23560378A>C | CA401781236 | NPC1 | c.734T>G (p.Ile245Ser) n.648T>G c.269T>G (p.Ile90Ser) | |
| 18 | g.23560378A>G | CA8913658 | NPC1 | c.734T>C (p.Ile245Thr) n.648T>C c.269T>C (p.Ile90Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23560378A>T | CA401781237 | NPC1 | c.734T>A (p.Ile245Asn) n.648T>A c.269T>A (p.Ile90Asn) | |
| 18 | g.23560379T>A | CA401781238 | NPC1 | c.733A>T (p.Ile245Phe) n.647A>T c.268A>T (p.Ile90Phe) | |
| 18 | g.23560379T>C | CA401781239 | NPC1 | c.733A>G (p.Ile245Val) n.647A>G c.268A>G (p.Ile90Val) | gnomAD v4 |
| 18 | g.23560379T>G | CA401781240 | NPC1 | c.733A>C (p.Ile245Leu) n.647A>C c.268A>C (p.Ile90Leu) | |
| 18 | g.23560380A>C | CA503522142 | NPC1 | c.732T>G (p.Ser244=) n.646T>G c.267T>G (p.Ser89=) | |
| 18 | g.23560380A>G | CA503522143 | NPC1 | c.732T>C (p.Ser244=) n.646T>C c.267T>C (p.Ser89=) | |
| 18 | g.23560380A>T | CA503522144 | NPC1 | c.732T>A (p.Ser244=) n.646T>A c.267T>A (p.Ser89=) | |
| 18 | g.23560381G>A | CA401781241 | NPC1 | c.731C>T (p.Ser244Phe) n.645C>T c.266C>T (p.Ser89Phe) | gnomAD v4 |