Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.23560268_23560269delCA2580612675NPC1c.846_847del (p.Phe284TrpfsTer23)
n.760_761del
c.77_78del
c.381_382del (p.Phe129TrpfsTer23)
 ClinVar gnomAD v4
18g.23560268C>ACA401780940NPC1c.844G>T (p.Val282Leu)
n.758G>T
c.75G>T
c.379G>T (p.Val127Leu)
18g.23560268C>GCA401780942NPC1c.844G>C (p.Val282Leu)
n.758G>C
c.75G>C
c.379G>C (p.Val127Leu)
18g.23560268C>TCA401780944NPC1c.844G>A (p.Val282Met)
n.758G>A
c.75G>A
c.379G>A (p.Val127Met)
18g.23560269A>CCA503522003NPC1c.843T>G (p.Leu281=)
n.757T>G
c.74T>G
c.378T>G (p.Leu126=)
 gnomAD v4
18g.23560269A>GCA503522002NPC1c.843T>C (p.Leu281=)
n.757T>C
c.74T>C
c.378T>C (p.Leu126=)
18g.23560269A>TCA503522001NPC1c.843T>A (p.Leu281=)
n.757T>A
c.74T>A
c.378T>A (p.Leu126=)
18g.23560270A=CA2290175676NPC1c.842T= (p.Leu281=)
n.756T=
c.73T=
c.377T= (p.Leu126=)
18g.23560270A>CCA401780947NPC1c.842T>G (p.Leu281Arg)
n.756T>G
c.73T>G
c.377T>G (p.Leu126Arg)
18g.23560270A>GCA8913628NPC1c.842T>C (p.Leu281Pro)
n.756T>C
c.73T>C
c.377T>C (p.Leu126Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23560270A>TCA401780951NPC1c.842T>A (p.Leu281His)
n.756T>A
c.73T>A
c.377T>A (p.Leu126His)
18g.23560271G>ACA8913629NPC1c.841C>T (p.Leu281Phe)
n.755C>T
c.72C>T
c.376C>T (p.Leu126Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23560271G>CCA401780954NPC1c.841C>G (p.Leu281Val)
n.755C>G
c.72C>G
c.376C>G (p.Leu126Val)
 dbSNP
18g.23560271G=CA2290175677NPC1c.841C= (p.Leu281=)
n.755C=
c.72C=
c.376C= (p.Leu126=)
18g.23560271G>TCA401780957NPC1c.841C>A (p.Leu281Ile)
n.755C>A
c.72C>A
c.376C>A (p.Leu126Ile)
18g.23560272C>ACA401780960NPC1c.840G>T (p.Leu280Phe)
n.754G>T
c.71G>T
c.375G>T (p.Leu125Phe)
18g.23560272C>GCA401780963NPC1c.840G>C (p.Leu280Phe)
n.754G>C
c.71G>C
c.375G>C (p.Leu125Phe)
18g.23560272C>TCA503522007NPC1c.840G>A (p.Leu280=)
n.754G>A
c.71G>A
c.375G>A (p.Leu125=)
18g.23560272_23560273delinsCACA2290175678NPC1c.839_840delinsTG (p.Leu280=)
n.753_754delinsTG
c.70_71delinsTG
c.374_375delinsTG (p.Leu125=)
18g.23560273A>CCA401780973NPC1c.839T>G (p.Leu280Trp)
n.753T>G
c.70T>G
c.374T>G (p.Leu125Trp)
18g.23560273A>GCA401780967NPC1c.839T>C (p.Leu280Ser)
n.753T>C
c.70T>C
c.374T>C (p.Leu125Ser)
18g.23560273A>TCA401780970NPC1c.839T>A (p.Leu280Ter)
n.753T>A
c.70T>A
c.374T>A (p.Leu125Ter)
18g.23560277delCA16043698NPC1c.839del (p.Leu280CysfsTer30)
n.753del
c.70del
c.374del (p.Leu125CysfsTer30)
 ClinVar dbSNP
18g.23560274A>CCA401780976NPC1c.838T>G (p.Leu280Val)
n.752T>G
c.69T>G
c.373T>G (p.Leu125Val)
18g.23560274A>GCA503522009NPC1c.838T>C (p.Leu280=)
n.752T>C
c.69T>C
c.373T>C (p.Leu125=)
18g.23560274A>TCA401780978NPC1c.838T>A (p.Leu280Met)
n.752T>A
c.69T>A
c.373T>A (p.Leu125Met)
18g.23560275A=CA2290175679NPC1c.837T= (p.Phe279=)
n.751T=
c.68T=
c.372T= (p.Phe124=)
18g.23560275A>CCA401780981NPC1c.837T>G (p.Phe279Leu)
n.751T>G
c.68T>G
c.372T>G (p.Phe124Leu)
18g.23560275A>GCA503522010NPC1c.837T>C (p.Phe279=)
n.751T>C
c.68T>C
c.372T>C (p.Phe124=)
 dbSNP gnomAD v3 gnomAD v4
18g.23560275A>TCA401780983NPC1c.837T>A (p.Phe279Leu)
n.751T>A
c.68T>A
c.372T>A (p.Phe124Leu)
18g.23560276A>CCA401780986NPC1c.836T>G (p.Phe279Cys)
n.750T>G
c.67T>G
c.371T>G (p.Phe124Cys)
18g.23560276A>GCA401780988NPC1c.836T>C (p.Phe279Ser)
n.750T>C
c.67T>C
c.371T>C (p.Phe124Ser)
18g.23560276A>TCA401780989NPC1c.836T>A (p.Phe279Tyr)
n.750T>A
c.67T>A
c.371T>A (p.Phe124Tyr)
18g.23560277A>CCA401780992NPC1c.835T>G (p.Phe279Val)
n.749T>G
c.66T>G
c.370T>G (p.Phe124Val)
18g.23560277A>GCA401780994NPC1c.835T>C (p.Phe279Leu)
n.749T>C
c.66T>C
c.370T>C (p.Phe124Leu)
18g.23560277A>TCA401780996NPC1c.835T>A (p.Phe279Ile)
n.749T>A
c.66T>A
c.370T>A (p.Phe124Ile)
18g.23560278C>ACA503522049NPC1c.834G>T (p.Ala278=)
n.748G>T
c.65G>T
c.369G>T (p.Ala123=)
18g.23560278C=CA2290175680NPC1c.834G= (p.Ala278=)
n.748G=
c.65G=
c.369G= (p.Ala123=)
18g.23560278C>GCA503522051NPC1c.834G>C (p.Ala278=)
n.748G>C
c.65G>C
c.369G>C (p.Ala123=)
18g.23560278C>TCA8913630NPC1c.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
18g.23560279G>ACA8913631NPC1c.833C>T (p.Ala278Val)
n.747C>T
c.64C>T
c.368C>T (p.Ala123Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23560279G>CCA401781002NPC1c.833C>G (p.Ala278Gly)
n.747C>G
c.64C>G
c.368C>G (p.Ala123Gly)
18g.23560279G=CA2290175681NPC1c.833C= (p.Ala278=)
n.747C=
c.64C=
c.368C= (p.Ala123=)
18g.23560279G>TCA8913632NPC1c.833C>A (p.Ala278Glu)
n.747C>A
c.64C>A
c.368C>A (p.Ala123Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23560280C>ACA401781011NPC1c.832G>T (p.Ala278Ser)
n.746G>T
c.63G>T
c.367G>T (p.Ala123Ser)
18g.23560280C>GCA401781013NPC1c.832G>C (p.Ala278Pro)
n.746G>C
c.63G>C
c.367G>C (p.Ala123Pro)
18g.23560280C>TCA401781015NPC1c.832G>A (p.Ala278Thr)
n.746G>A
c.63G>A
c.367G>A (p.Ala123Thr)
 gnomAD v4
18g.23560281dupCA297074601NPC1c.832dup (p.Ala278GlyfsTer30)
n.746dup
c.63dup
c.367dup (p.Ala123GlyfsTer30)
 dbSNP
18g.23560281C>ACA401781017NPC1c.831G>T (p.Met277Ile)
n.745G>T
c.62G>T
c.366G>T (p.Met122Ile)
18g.23560281C>GCA401781020NPC1c.831G>C (p.Met277Ile)
n.745G>C
c.62G>C
c.366G>C (p.Met122Ile)
 gnomAD v4

Number of alleles fetched