Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.23560279G>A | CA8913631 | NPC1 | c.833C>T (p.Ala278Val) n.747C>T c.64C>T c.368C>T (p.Ala123Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23560279G>C | CA401781002 | NPC1 | c.833C>G (p.Ala278Gly) n.747C>G c.64C>G c.368C>G (p.Ala123Gly) | |
18 | g.23560279G= | CA2290175681 | NPC1 | c.833C= (p.Ala278=) n.747C= c.64C= c.368C= (p.Ala123=) | |
18 | g.23560279G>T | CA8913632 | NPC1 | c.833C>A (p.Ala278Glu) n.747C>A c.64C>A c.368C>A (p.Ala123Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23560280C>A | CA401781011 | NPC1 | c.832G>T (p.Ala278Ser) n.746G>T c.63G>T c.367G>T (p.Ala123Ser) | |
18 | g.23560280C>G | CA401781013 | NPC1 | c.832G>C (p.Ala278Pro) n.746G>C c.63G>C c.367G>C (p.Ala123Pro) | |
18 | g.23560280C>T | CA401781015 | NPC1 | c.832G>A (p.Ala278Thr) n.746G>A c.63G>A c.367G>A (p.Ala123Thr) | gnomAD v4 |
18 | g.23560281dup | CA297074601 | NPC1 | c.832dup (p.Ala278GlyfsTer30) n.746dup c.63dup c.367dup (p.Ala123GlyfsTer30) | dbSNP |
18 | g.23560281C>A | CA401781017 | NPC1 | c.831G>T (p.Met277Ile) n.745G>T c.62G>T c.366G>T (p.Met122Ile) | |
18 | g.23560281C>G | CA401781020 | NPC1 | c.831G>C (p.Met277Ile) n.745G>C c.62G>C c.366G>C (p.Met122Ile) | gnomAD v4 |
18 | g.23560281C>T | CA401781022 | NPC1 | c.831G>A (p.Met277Ile) n.745G>A c.62G>A c.366G>A (p.Met122Ile) | |
18 | g.23560282del | CA2641271867 | NPC1 | c.830del (p.Met277ArgfsTer?) n.744del c.61del c.365del (p.Met122ArgfsTer?) | gnomAD v4 |
18 | g.23560282A>C | CA401781025 | NPC1 | c.830T>G (p.Met277Arg) n.744T>G c.61T>G c.365T>G (p.Met122Arg) | |
18 | g.23560282A>G | CA401781026 | NPC1 | c.830T>C (p.Met277Thr) n.744T>C c.61T>C c.365T>C (p.Met122Thr) | |
18 | g.23560282A>T | CA401781028 | NPC1 | c.830T>A (p.Met277Lys) n.744T>A c.61T>A c.365T>A (p.Met122Lys) | |
18 | g.23560283T>A | CA401781034 | NPC1 | c.829A>T (p.Met277Leu) n.743A>T c.60A>T c.364A>T (p.Met122Leu) | |
18 | g.23560283T>C | CA8913633 | NPC1 | c.829A>G (p.Met277Val) n.743A>G c.60A>G c.364A>G (p.Met122Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23560283T>G | CA401781032 | NPC1 | c.829A>C (p.Met277Leu) n.743A>C c.60A>C c.364A>C (p.Met122Leu) | gnomAD v4 |
18 | g.23560283T= | CA2290175682 | NPC1 | c.829A= (p.Met277=) n.743A= c.60A= c.364A= (p.Met122=) | |
18 | g.23560284G>A | CA503522057 | NPC1 | c.828C>T (p.Tyr276=) n.742C>T c.59C>T c.363C>T (p.Tyr121=) | ClinVar dbSNP COSMIC COSMIC |
18 | g.23560284G>C | CA401781036 | NPC1 | c.828C>G (p.Tyr276Ter) n.742C>G c.59C>G c.363C>G (p.Tyr121Ter) | |
18 | g.23560284G>T | CA401781039 | NPC1 | c.828C>A (p.Tyr276Ter) n.742C>A c.59C>A c.363C>A (p.Tyr121Ter) | |
18 | g.23560285T>A | CA401781042 | NPC1 | c.827A>T (p.Tyr276Phe) n.741A>T c.58A>T c.362A>T (p.Tyr121Phe) | |
18 | g.23560285T>C | CA401781044 | NPC1 | c.827A>G (p.Tyr276Cys) n.741A>G c.58A>G c.362A>G (p.Tyr121Cys) | |
18 | g.23560285T>G | CA401781045 | NPC1 | c.827A>C (p.Tyr276Ser) n.741A>C c.58A>C c.362A>C (p.Tyr121Ser) | |
18 | g.23560286A>C | CA401781046 | NPC1 | c.826T>G (p.Tyr276Asp) n.740T>G c.57T>G c.361T>G (p.Tyr121Asp) | |
18 | g.23560286A>G | CA401781047 | NPC1 | c.826T>C (p.Tyr276His) n.740T>C c.57T>C c.361T>C (p.Tyr121His) | |
18 | g.23560286A>T | CA401781048 | NPC1 | c.826T>A (p.Tyr276Asn) n.740T>A c.57T>A c.361T>A (p.Tyr121Asn) | |
18 | g.23560286_23560287delinsAG | CA2290175683 | NPC1 | c.825_826delinsCT (p.Thr275=) n.739_740delinsCT c.56_57delinsCT c.360_361delinsCT (p.Thr120=) | |
18 | g.23560287G>A | CA503522061 | NPC1 | c.825C>T (p.Thr275=) n.739C>T c.56C>T c.360C>T (p.Thr120=) | ClinVar dbSNP gnomAD v4 |
18 | g.23560287G>C | CA503522062 | NPC1 | c.825C>G (p.Thr275=) n.739C>G c.56C>G c.360C>G (p.Thr120=) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.23560287G= | CA2290175684 | NPC1 | c.825C= (p.Thr275=) n.739C= c.56C= c.360C= (p.Thr120=) | |
18 | g.23560287G>T | CA503522063 | NPC1 | c.825C>A (p.Thr275=) n.739C>A c.56C>A c.360C>A (p.Thr120=) | |
18 | g.23560288del | CA8913634 | NPC1 | c.825del (p.Tyr276ThrfsTer?) n.739del c.56del c.360del (p.Tyr121ThrfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23560288G>A | CA401781049 | NPC1 | c.824C>T (p.Thr275Ile) n.738C>T c.55C>T c.359C>T (p.Thr120Ile) | |
18 | g.23560288G>C | CA401781050 | NPC1 | c.824C>G (p.Thr275Ser) n.738C>G c.55C>G c.359C>G (p.Thr120Ser) | |
18 | g.23560288G>T | CA401781051 | NPC1 | c.824C>A (p.Thr275Asn) n.738C>A c.55C>A c.359C>A (p.Thr120Asn) | |
18 | g.23560289T>A | CA401781053 | NPC1 | c.823A>T (p.Thr275Ser) n.737A>T c.54A>T c.358A>T (p.Thr120Ser) | |
18 | g.23560289T>C | CA401781054 | NPC1 | c.823A>G (p.Thr275Ala) n.737A>G c.54A>G c.358A>G (p.Thr120Ala) | |
18 | g.23560289T>G | CA401781052 | NPC1 | c.823A>C (p.Thr275Pro) n.737A>C c.54A>C c.358A>C (p.Thr120Pro) | |
18 | g.23560293_23560301del | CA2641271893 | NPC1 | c.815_823del (p.Met272_Ile274del) n.729_737del c.46_54del c.350_358del (p.Met117_Ile119del) | gnomAD v4 |
18 | g.23560290G>A | CA503522068 | NPC1 | c.822C>T (p.Ile274=) n.736C>T c.53C>T c.357C>T (p.Ile119=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
18 | g.23560290G>C | CA401781055 | NPC1 | c.822C>G (p.Ile274Met) n.736C>G c.53C>G c.357C>G (p.Ile119Met) | |
18 | g.23560290G= | CA2290175685 | NPC1 | c.822C= (p.Ile274=) n.736C= c.53C= c.357C= (p.Ile119=) | |
18 | g.23560290G>T | CA503522067 | NPC1 | c.822C>A (p.Ile274=) n.736C>A c.53C>A c.357C>A (p.Ile119=) | |
18 | g.23560291A>C | CA401781056 | NPC1 | c.821T>G (p.Ile274Ser) n.735T>G c.52T>G c.356T>G (p.Ile119Ser) | |
18 | g.23560291A>G | CA401781057 | NPC1 | c.821T>C (p.Ile274Thr) n.735T>C c.52T>C c.356T>C (p.Ile119Thr) | gnomAD v4 |
18 | g.23560291A>T | CA401781058 | NPC1 | c.821T>A (p.Ile274Asn) n.735T>A c.52T>A c.356T>A (p.Ile119Asn) | |
18 | g.23560292T>A | CA401781059 | NPC1 | c.820A>T (p.Ile274Phe) n.734A>T c.51A>T c.355A>T (p.Ile119Phe) | |
18 | g.23560292T>C | CA401781060 | NPC1 | c.820A>G (p.Ile274Val) n.734A>G c.51A>G c.355A>G (p.Ile119Val) |