Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.23532378_23536675delCA913190465NPC1c.3243_3755-94del
c.2321_2833-94del
c.3294_3805+977del
c.3294_3806-94del
c.3243_3754+977del
c.2829_3340+977del
ClinVar
18g.23535620_23535621delinsATCA2290163915NPC1c.3325_3326delinsAT (p.Ile1109=)
c.80_81delinsAT
n.80_81delinsAT
c.2403_2404delinsAT
c.2_3delinsAT
c.3376_3377delinsAT (p.Ile1126=)
c.2911_2912delinsAT (p.Ile971=)
18g.23535621delCA16041910NPC1c.3325del (p.Ile1109TyrfsTer4)
c.80del
n.80del
c.2403del
c.2del
c.3376del (p.Ile1126TyrfsTer4)
c.2911del (p.Ile971TyrfsTer4)
ClinVar dbSNP
18g.23535621T>ACA401791444NPC1c.3325A>T (p.Ile1109Leu)
c.80A>T
n.80A>T
c.2403A>T
c.2A>T
c.3376A>T (p.Ile1126Leu)
c.2911A>T (p.Ile971Leu)
gnomAD v4
18g.23535621T>CCA297079228NPC1c.3325A>G (p.Ile1109Val)
c.80A>G
n.80A>G
c.2403A>G
c.2A>G
c.3376A>G (p.Ile1126Val)
c.2911A>G (p.Ile971Val)
ClinVar dbSNP gnomAD v3 gnomAD v4
18g.23535621T>GCA401791445NPC1c.3325A>C (p.Ile1109Leu)
c.80A>C
n.80A>C
c.2403A>C
c.2A>C
c.3376A>C (p.Ile1126Leu)
c.2911A>C (p.Ile971Leu)
18g.23535621T=CA2290163916NPC1c.3325A= (p.Ile1109=)
c.80A=
n.80A=
c.2403A=
c.2A=
c.3376A= (p.Ile1126=)
c.2911A= (p.Ile971=)
18g.23535622C>ACA503521736NPC1c.3324G>T (p.Ala1108=)
c.79G>T
n.79G>T
c.2402G>T
c.1G>T
c.3375G>T (p.Ala1125=)
c.2910G>T (p.Ala970=)
dbSNP gnomAD v2 gnomAD v4
18g.23535622C=CA2290163917NPC1c.3324G= (p.Ala1108=)
c.79G=
n.79G=
c.2402G=
c.1G=
c.3375G= (p.Ala1125=)
c.2910G= (p.Ala970=)
18g.23535622C>GCA503521737NPC1c.3324G>C (p.Ala1108=)
c.79G>C
n.79G>C
c.2402G>C
c.1G>C
c.3375G>C (p.Ala1125=)
c.2910G>C (p.Ala970=)
18g.23535622C>TCA8912796NPC1c.3324G>A (p.Ala1108=)
c.79G>A
n.79G>A
c.2402G>A
c.1G>A
c.3375G>A (p.Ala1125=)
c.2910G>A (p.Ala970=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23535623G>ACA8912797NPC1c.3323C>T (p.Ala1108Val)
c.78C>T
n.78C>T
c.2401C>T
c.3374C>T (p.Ala1125Val)
c.2909C>T (p.Ala970Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.23535623G>CCA401791446NPC1c.3323C>G (p.Ala1108Gly)
c.78C>G
n.78C>G
c.2401C>G
c.3374C>G (p.Ala1125Gly)
c.2909C>G (p.Ala970Gly)
18g.23535623G=CA2290163918NPC1c.3323C= (p.Ala1108=)
c.78C=
n.78C=
c.2401C=
c.3374C= (p.Ala1125=)
c.2909C= (p.Ala970=)
18g.23535623G>TCA401791447NPC1c.3323C>A (p.Ala1108Glu)
c.78C>A
n.78C>A
c.2401C>A
c.3374C>A (p.Ala1125Glu)
c.2909C>A (p.Ala970Glu)
18g.23535624C>ACA401791449NPC1c.3322G>T (p.Ala1108Ser)
c.77G>T
n.77G>T
c.2400G>T
c.3373G>T (p.Ala1125Ser)
c.2908G>T (p.Ala970Ser)
18g.23535624C=CA2290163919NPC1c.3322G= (p.Ala1108=)
c.77G=
n.77G=
c.2400G=
c.3373G= (p.Ala1125=)
c.2908G= (p.Ala970=)
18g.23535624C>GCA401791448NPC1c.3322G>C (p.Ala1108Pro)
c.77G>C
n.77G>C
c.2400G>C
c.3373G>C (p.Ala1125Pro)
c.2908G>C (p.Ala970Pro)
18g.23535624C>TCA8912798NPC1c.3322G>A (p.Ala1108Thr)
c.77G>A
n.77G>A
c.2400G>A
c.3373G>A (p.Ala1125Thr)
c.2908G>A (p.Ala970Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23535624dupCA2580095546NPC1c.3322dup (p.Ala1108GlyfsTer13)
c.77dup
n.77dup
c.2400dup
c.3373dup (p.Ala1125GlyfsTer13)
c.2908dup (p.Ala970GlyfsTer13)
ClinVar dbSNP gnomAD v4
18g.23535625G>ACA8912800NPC1c.3321C>T (p.Gly1107=)
c.76C>T
n.76C>T
c.2399C>T
c.3372C>T (p.Gly1124=)
c.2907C>T (p.Gly969=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
18g.23535625G>CCA503521738NPC1c.3321C>G (p.Gly1107=)
c.76C>G
n.76C>G
c.2399C>G
c.3372C>G (p.Gly1124=)
c.2907C>G (p.Gly969=)
18g.23535625G=CA2290163920NPC1c.3321C= (p.Gly1107=)
c.76C=
n.76C=
c.2399C=
c.3372C= (p.Gly1124=)
c.2907C= (p.Gly969=)
18g.23535625G>TCA8912799NPC1c.3321C>A (p.Gly1107=)
c.76C>A
n.76C>A
c.2399C>A
c.3372C>A (p.Gly1124=)
c.2907C>A (p.Gly969=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23535626C>ACA401791450NPC1c.3320G>T (p.Gly1107Val)
c.75G>T
n.75G>T
c.2398G>T
c.3371G>T (p.Gly1124Val)
c.2906G>T (p.Gly969Val)
18g.23535626C>GCA401791451NPC1c.3320G>C (p.Gly1107Ala)
c.75G>C
n.75G>C
c.2398G>C
c.3371G>C (p.Gly1124Ala)
c.2906G>C (p.Gly969Ala)
18g.23535626C>TCA401791452NPC1c.3320G>A (p.Gly1107Asp)
c.75G>A
n.75G>A
c.2398G>A
c.3371G>A (p.Gly1124Asp)
c.2906G>A (p.Gly969Asp)
18g.23535628dupCA2573155192NPC1c.3320dup (p.Ala1108ArgfsTer13)
c.75dup
n.75dup
c.2398dup
c.3371dup (p.Ala1125ArgfsTer13)
c.2906dup (p.Ala970ArgfsTer13)
ClinVar dbSNP
18g.23535627C>ACA401791453NPC1c.3319G>T (p.Gly1107Cys)
c.74G>T
n.74G>T
c.2397G>T
c.3370G>T (p.Gly1124Cys)
c.2905G>T (p.Gly969Cys)
18g.23535627C>GCA401791454NPC1c.3319G>C (p.Gly1107Arg)
c.74G>C
n.74G>C
c.2397G>C
c.3370G>C (p.Gly1124Arg)
c.2905G>C (p.Gly969Arg)
18g.23535627C>TCA401791455NPC1c.3319G>A (p.Gly1107Ser)
c.74G>A
n.74G>A
c.2397G>A
c.3370G>A (p.Gly1124Ser)
c.2905G>A (p.Gly969Ser)
gnomAD v4
18g.23535628C>ACA503521739NPC1c.3318G>T (p.Leu1106=)
c.73G>T
n.73G>T
c.2396G>T
c.3369G>T (p.Leu1123=)
c.2904G>T (p.Leu968=)
18g.23535628C=CA2290163921NPC1c.3318G= (p.Leu1106=)
c.73G=
n.73G=
c.2396G=
c.3369G= (p.Leu1123=)
c.2904G= (p.Leu968=)
18g.23535628C>GCA503521740NPC1c.3318G>C (p.Leu1106=)
c.73G>C
n.73G>C
c.2396G>C
c.3369G>C (p.Leu1123=)
c.2904G>C (p.Leu968=)
18g.23535628C>TCA503521741NPC1c.3318G>A (p.Leu1106=)
c.73G>A
n.73G>A
c.2396G>A
c.3369G>A (p.Leu1123=)
c.2904G>A (p.Leu968=)
ClinVar dbSNP gnomAD v2 gnomAD v4
18g.23535629A>CCA401791456NPC1c.3317T>G (p.Leu1106Arg)
c.72T>G
n.72T>G
c.2395T>G
c.3368T>G (p.Leu1123Arg)
c.2903T>G (p.Leu968Arg)
18g.23535629A>GCA401791457NPC1c.3317T>C (p.Leu1106Pro)
c.72T>C
n.72T>C
c.2395T>C
c.3368T>C (p.Leu1123Pro)
c.2903T>C (p.Leu968Pro)
18g.23535629A>TCA401791458NPC1c.3317T>A (p.Leu1106Gln)
c.72T>A
n.72T>A
c.2395T>A
c.3368T>A (p.Leu1123Gln)
c.2903T>A (p.Leu968Gln)
18g.23535630G>ACA503521742NPC1c.3316C>T (p.Leu1106=)
c.71C>T
n.71C>T
c.2394C>T
c.3367C>T (p.Leu1123=)
c.2902C>T (p.Leu968=)
18g.23535630G>CCA401791459NPC1c.3316C>G (p.Leu1106Val)
c.71C>G
n.71C>G
c.2394C>G
c.3367C>G (p.Leu1123Val)
c.2902C>G (p.Leu968Val)
gnomAD v4
18g.23535630G>TCA401791460NPC1c.3316C>A (p.Leu1106Met)
c.71C>A
n.71C>A
c.2394C>A
c.3367C>A (p.Leu1123Met)
c.2902C>A (p.Leu968Met)
18g.23535631G>ACA503521743NPC1c.3315C>T (p.Ser1105=)
c.70C>T
n.70C>T
c.2393C>T
c.3366C>T (p.Ser1122=)
c.2901C>T (p.Ser967=)
ClinVar dbSNP gnomAD v4
18g.23535631G>CCA503521744NPC1c.3315C>G (p.Ser1105=)
c.70C>G
n.70C>G
c.2393C>G
c.3366C>G (p.Ser1122=)
c.2901C>G (p.Ser967=)
18g.23535631G>TCA503521745NPC1c.3315C>A (p.Ser1105=)
c.70C>A
n.70C>A
c.2393C>A
c.3366C>A (p.Ser1122=)
c.2901C>A (p.Ser967=)
18g.23535632G>ACA401791462NPC1c.3314C>T (p.Ser1105Phe)
c.69C>T
n.69C>T
c.2392C>T
c.3365C>T (p.Ser1122Phe)
c.2900C>T (p.Ser967Phe)
dbSNP
18g.23535632G>CCA401791463NPC1c.3314C>G (p.Ser1105Cys)
c.69C>G
n.69C>G
c.2392C>G
c.3365C>G (p.Ser1122Cys)
c.2900C>G (p.Ser967Cys)
18g.23535632G>TCA401791461NPC1c.3314C>A (p.Ser1105Tyr)
c.69C>A
n.69C>A
c.2392C>A
c.3365C>A (p.Ser1122Tyr)
c.2900C>A (p.Ser967Tyr)
ClinVar
18g.23535633A>CCA401791464NPC1c.3313T>G (p.Ser1105Ala)
c.68T>G
n.68T>G
c.2391T>G
c.3364T>G (p.Ser1122Ala)
c.2899T>G (p.Ser967Ala)
18g.23535633A>GCA401791465NPC1c.3313T>C (p.Ser1105Pro)
c.68T>C
n.68T>C
c.2391T>C
c.3364T>C (p.Ser1122Pro)
c.2899T>C (p.Ser967Pro)
18g.23535633A>TCA401791466NPC1c.3313T>A (p.Ser1105Thr)
c.68T>A
n.68T>A
c.2391T>A
c.3364T>A (p.Ser1122Thr)
c.2899T>A (p.Ser967Thr)

Number of alleles fetched