Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.23560268_23560269del | CA2580612675 | NPC1 | c.846_847del (p.Phe284TrpfsTer23) n.760_761del c.77_78del c.381_382del (p.Phe129TrpfsTer23) | ClinVar gnomAD v4 |
18 | g.23560269A>C | CA503522003 | NPC1 | c.843T>G (p.Leu281=) n.757T>G c.74T>G c.378T>G (p.Leu126=) | gnomAD v4 |
18 | g.23560269A>G | CA503522002 | NPC1 | c.843T>C (p.Leu281=) n.757T>C c.74T>C c.378T>C (p.Leu126=) | |
18 | g.23560269A>T | CA503522001 | NPC1 | c.843T>A (p.Leu281=) n.757T>A c.74T>A c.378T>A (p.Leu126=) | |
18 | g.23560270A= | CA2290175676 | NPC1 | c.842T= (p.Leu281=) n.756T= c.73T= c.377T= (p.Leu126=) | |
18 | g.23560270A>C | CA401780947 | NPC1 | c.842T>G (p.Leu281Arg) n.756T>G c.73T>G c.377T>G (p.Leu126Arg) | |
18 | g.23560270A>G | CA8913628 | NPC1 | c.842T>C (p.Leu281Pro) n.756T>C c.73T>C c.377T>C (p.Leu126Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23560270A>T | CA401780951 | NPC1 | c.842T>A (p.Leu281His) n.756T>A c.73T>A c.377T>A (p.Leu126His) | |
18 | g.23560271G>A | CA8913629 | NPC1 | c.841C>T (p.Leu281Phe) n.755C>T c.72C>T c.376C>T (p.Leu126Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23560271G>C | CA401780954 | NPC1 | c.841C>G (p.Leu281Val) n.755C>G c.72C>G c.376C>G (p.Leu126Val) | dbSNP |
18 | g.23560271G= | CA2290175677 | NPC1 | c.841C= (p.Leu281=) n.755C= c.72C= c.376C= (p.Leu126=) | |
18 | g.23560271G>T | CA401780957 | NPC1 | c.841C>A (p.Leu281Ile) n.755C>A c.72C>A c.376C>A (p.Leu126Ile) | |
18 | g.23560272C>A | CA401780960 | NPC1 | c.840G>T (p.Leu280Phe) n.754G>T c.71G>T c.375G>T (p.Leu125Phe) | |
18 | g.23560272C>G | CA401780963 | NPC1 | c.840G>C (p.Leu280Phe) n.754G>C c.71G>C c.375G>C (p.Leu125Phe) | |
18 | g.23560272C>T | CA503522007 | NPC1 | c.840G>A (p.Leu280=) n.754G>A c.71G>A c.375G>A (p.Leu125=) | |
18 | g.23560272_23560273delinsCA | CA2290175678 | NPC1 | c.839_840delinsTG (p.Leu280=) n.753_754delinsTG c.70_71delinsTG c.374_375delinsTG (p.Leu125=) | |
18 | g.23560273A>C | CA401780973 | NPC1 | c.839T>G (p.Leu280Trp) n.753T>G c.70T>G c.374T>G (p.Leu125Trp) | |
18 | g.23560273A>G | CA401780967 | NPC1 | c.839T>C (p.Leu280Ser) n.753T>C c.70T>C c.374T>C (p.Leu125Ser) | |
18 | g.23560273A>T | CA401780970 | NPC1 | c.839T>A (p.Leu280Ter) n.753T>A c.70T>A c.374T>A (p.Leu125Ter) | |
18 | g.23560277del | CA16043698 | NPC1 | c.839del (p.Leu280CysfsTer30) n.753del c.70del c.374del (p.Leu125CysfsTer30) | ClinVar dbSNP |
18 | g.23560274A>C | CA401780976 | NPC1 | c.838T>G (p.Leu280Val) n.752T>G c.69T>G c.373T>G (p.Leu125Val) | |
18 | g.23560274A>G | CA503522009 | NPC1 | c.838T>C (p.Leu280=) n.752T>C c.69T>C c.373T>C (p.Leu125=) | |
18 | g.23560274A>T | CA401780978 | NPC1 | c.838T>A (p.Leu280Met) n.752T>A c.69T>A c.373T>A (p.Leu125Met) | |
18 | g.23560275A= | CA2290175679 | NPC1 | c.837T= (p.Phe279=) n.751T= c.68T= c.372T= (p.Phe124=) | |
18 | g.23560275A>C | CA401780981 | NPC1 | c.837T>G (p.Phe279Leu) n.751T>G c.68T>G c.372T>G (p.Phe124Leu) | |
18 | g.23560275A>G | CA503522010 | NPC1 | c.837T>C (p.Phe279=) n.751T>C c.68T>C c.372T>C (p.Phe124=) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.23560275A>T | CA401780983 | NPC1 | c.837T>A (p.Phe279Leu) n.751T>A c.68T>A c.372T>A (p.Phe124Leu) | |
18 | g.23560276A>C | CA401780986 | NPC1 | c.836T>G (p.Phe279Cys) n.750T>G c.67T>G c.371T>G (p.Phe124Cys) | |
18 | g.23560276A>G | CA401780988 | NPC1 | c.836T>C (p.Phe279Ser) n.750T>C c.67T>C c.371T>C (p.Phe124Ser) | |
18 | g.23560276A>T | CA401780989 | NPC1 | c.836T>A (p.Phe279Tyr) n.750T>A c.67T>A c.371T>A (p.Phe124Tyr) | |
18 | g.23560277A>C | CA401780992 | NPC1 | c.835T>G (p.Phe279Val) n.749T>G c.66T>G c.370T>G (p.Phe124Val) | |
18 | g.23560277A>G | CA401780994 | NPC1 | c.835T>C (p.Phe279Leu) n.749T>C c.66T>C c.370T>C (p.Phe124Leu) | |
18 | g.23560277A>T | CA401780996 | NPC1 | c.835T>A (p.Phe279Ile) n.749T>A c.66T>A c.370T>A (p.Phe124Ile) | |
18 | g.23560278C>A | CA503522049 | NPC1 | c.834G>T (p.Ala278=) n.748G>T c.65G>T c.369G>T (p.Ala123=) | |
18 | g.23560278C= | CA2290175680 | NPC1 | c.834G= (p.Ala278=) n.748G= c.65G= c.369G= (p.Ala123=) | |
18 | g.23560278C>G | CA503522051 | NPC1 | c.834G>C (p.Ala278=) n.748G>C c.65G>C c.369G>C (p.Ala123=) | |
18 | g.23560278C>T | CA8913630 | NPC1 | c.834G>A (p.Ala278=) n.748G>A c.65G>A c.369G>A (p.Ala123=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
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) |