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.23535426G>TCA2576470816NPC1c.3477+43C>A (n.3477+43C>A)
c.232+43C>A
n.232+43C>A
c.2555+43C>A
c.154+43C>A
c.3528+43C>A (n.3528+43C>A)
c.3063+43C>A (n.3063+43C>A)
 gnomAD v4
18g.23535429A>GCA2641278352NPC1c.3477+40T>C (n.3477+40T>C)
c.232+40T>C
n.232+40T>C
c.2555+40T>C
c.154+40T>C
c.3528+40T>C (n.3528+40T>C)
c.3063+40T>C (n.3063+40T>C)
 gnomAD v4
18g.23535430C>ACA2641278353NPC1c.3477+39G>T (n.3477+39G>T)
c.232+39G>T
n.232+39G>T
c.2555+39G>T
c.154+39G>T
c.3528+39G>T (n.3528+39G>T)
c.3063+39G>T (n.3063+39G>T)
 gnomAD v4
18g.23535430C>GCA2811814168NPC1c.3477+39G>C (n.3477+39G>C)
c.232+39G>C
n.232+39G>C
c.2555+39G>C
c.154+39G>C
c.3528+39G>C (n.3528+39G>C)
c.3063+39G>C (n.3063+39G>C)
18g.23535431A>GCA2641278355NPC1c.3477+38T>C (n.3477+38T>C)
c.232+38T>C
n.232+38T>C
c.2555+38T>C
c.154+38T>C
c.3528+38T>C (n.3528+38T>C)
c.3063+38T>C (n.3063+38T>C)
 gnomAD v4
18g.23535431A>TCA2641278356NPC1c.3477+38T>A (n.3477+38T>A)
c.232+38T>A
n.232+38T>A
c.2555+38T>A
c.154+38T>A
c.3528+38T>A (n.3528+38T>A)
c.3063+38T>A (n.3063+38T>A)
 gnomAD v4
18g.23535431_23535432delCA2641278354NPC1c.3477+37_3477+38del (n.3477+37_3477+38del)
c.232+37_232+38del
n.232+37_232+38del
c.2555+37_2555+38del
c.154+37_154+38del
c.3528+37_3528+38del (n.3528+37_3528+38del)
c.3063+37_3063+38del (n.3063+37_3063+38del)
 gnomAD v4
18g.23535433_23535435delCA2576470817NPC1c.3477+36_3477+38del (n.3477+36_3477+38del)
c.232+36_232+38del
n.232+36_232+38del
c.2555+36_2555+38del
c.154+36_154+38del
c.3528+36_3528+38del (n.3528+36_3528+38del)
c.3063+36_3063+38del (n.3063+36_3063+38del)
18g.23535432G>ACA628677523NPC1c.3477+37C>T (n.3477+37C>T)
c.232+37C>T
n.232+37C>T
c.2555+37C>T
c.154+37C>T
c.3528+37C>T (n.3528+37C>T)
c.3063+37C>T (n.3063+37C>T)
 dbSNP gnomAD v2
18g.23535432G=CA2290163817NPC1c.3477+37C= (n.3477+37C=)
c.232+37C=
n.232+37C=
c.2555+37C=
c.154+37C=
c.3528+37C= (n.3528+37C=)
c.3063+37C= (n.3063+37C=)
18g.23535433G>ACA628677524NPC1c.3477+36C>T (n.3477+36C>T)
c.232+36C>T
n.232+36C>T
c.2555+36C>T
c.154+36C>T
c.3528+36C>T (n.3528+36C>T)
c.3063+36C>T (n.3063+36C>T)
 dbSNP gnomAD v2
18g.23535433G=CA2290163818NPC1c.3477+36C= (n.3477+36C=)
c.232+36C=
n.232+36C=
c.2555+36C=
c.154+36C=
c.3528+36C= (n.3528+36C=)
c.3063+36C= (n.3063+36C=)
18g.23535435G>TCA2576470818NPC1c.3477+34C>A (n.3477+34C>A)
c.232+34C>A
n.232+34C>A
c.2555+34C>A
c.154+34C>A
c.3528+34C>A (n.3528+34C>A)
c.3063+34C>A (n.3063+34C>A)
 gnomAD v4
18g.23535436C>ACA2641278357NPC1c.3477+33G>T (n.3477+33G>T)
c.232+33G>T
n.232+33G>T
c.2555+33G>T
c.154+33G>T
c.3528+33G>T (n.3528+33G>T)
c.3063+33G>T (n.3063+33G>T)
 gnomAD v4
18g.23535436C>TCA2576470819NPC1c.3477+33G>A (n.3477+33G>A)
c.232+33G>A
n.232+33G>A
c.2555+33G>A
c.154+33G>A
c.3528+33G>A (n.3528+33G>A)
c.3063+33G>A (n.3063+33G>A)
 gnomAD v4
18g.23535438delCA2576470820NPC1c.3477+31del (n.3477+31del)
c.232+31del
n.232+31del
c.2555+31del
c.154+31del
c.3528+31del (n.3528+31del)
c.3063+31del (n.3063+31del)
18g.23535438A=CA2290163819NPC1c.3477+31T= (n.3477+31T=)
c.232+31T=
n.232+31T=
c.2555+31T=
c.154+31T=
c.3528+31T= (n.3528+31T=)
c.3063+31T= (n.3063+31T=)
18g.23535438A>GCA8912757NPC1c.3477+31T>C (n.3477+31T>C)
c.232+31T>C
n.232+31T>C
c.2555+31T>C
c.154+31T>C
c.3528+31T>C (n.3528+31T>C)
c.3063+31T>C (n.3063+31T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23535439G>ACA2641278358NPC1c.3477+30C>T (n.3477+30C>T)
c.232+30C>T
n.232+30C>T
c.2555+30C>T
c.154+30C>T
c.3528+30C>T (n.3528+30C>T)
c.3063+30C>T (n.3063+30C>T)
 gnomAD v4
18g.23535439G>TCA2576470821NPC1c.3477+30C>A (n.3477+30C>A)
c.232+30C>A
n.232+30C>A
c.2555+30C>A
c.154+30C>A
c.3528+30C>A (n.3528+30C>A)
c.3063+30C>A (n.3063+30C>A)
 gnomAD v4
18g.23535440G>ACA2641278359NPC1c.3477+29C>T (n.3477+29C>T)
c.232+29C>T
n.232+29C>T
c.2555+29C>T
c.154+29C>T
c.3528+29C>T (n.3528+29C>T)
c.3063+29C>T (n.3063+29C>T)
 gnomAD v4
18g.23535440G>TCA2641278360NPC1c.3477+29C>A (n.3477+29C>A)
c.232+29C>A
n.232+29C>A
c.2555+29C>A
c.154+29C>A
c.3528+29C>A (n.3528+29C>A)
c.3063+29C>A (n.3063+29C>A)
 gnomAD v4
18g.23535441G>ACA628677525NPC1c.3477+28C>T (n.3477+28C>T)
c.232+28C>T
n.232+28C>T
c.2555+28C>T
c.154+28C>T
c.3528+28C>T (n.3528+28C>T)
c.3063+28C>T (n.3063+28C>T)
 dbSNP gnomAD v2
18g.23535441G=CA2290163820NPC1c.3477+28C= (n.3477+28C=)
c.232+28C=
n.232+28C=
c.2555+28C=
c.154+28C=
c.3528+28C= (n.3528+28C=)
c.3063+28C= (n.3063+28C=)
18g.23535441G>TCA2576470822NPC1c.3477+28C>A (n.3477+28C>A)
c.232+28C>A
n.232+28C>A
c.2555+28C>A
c.154+28C>A
c.3528+28C>A (n.3528+28C>A)
c.3063+28C>A (n.3063+28C>A)
 gnomAD v4
18g.23535443C>ACA8912758NPC1c.3477+26G>T (n.3477+26G>T)
c.232+26G>T
n.232+26G>T
c.2555+26G>T
c.154+26G>T
c.3528+26G>T (n.3528+26G>T)
c.3063+26G>T (n.3063+26G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23535443C=CA2290163822NPC1c.3477+26G= (n.3477+26G=)
c.232+26G=
n.232+26G=
c.2555+26G=
c.154+26G=
c.3528+26G= (n.3528+26G=)
c.3063+26G= (n.3063+26G=)
18g.23535443C>GCA628677526NPC1c.3477+26G>C (n.3477+26G>C)
c.232+26G>C
n.232+26G>C
c.2555+26G>C
c.154+26G>C
c.3528+26G>C (n.3528+26G>C)
c.3063+26G>C (n.3063+26G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23535443C>TCA8912759NPC1c.3477+26G>A (n.3477+26G>A)
c.232+26G>A
n.232+26G>A
c.2555+26G>A
c.154+26G>A
c.3528+26G>A (n.3528+26G>A)
c.3063+26G>A (n.3063+26G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23535443_23535449delinsCAAACTGCA2290163821NPC1c.3477+20_3477+26delinsCAGTTTG (n.3477+20_3477+26delinsCAGTTTG)
c.232+20_232+26delinsCAGTTTG
n.232+20_232+26delinsCAGTTTG
c.2555+20_2555+26delinsCAGTTTG
c.154+20_154+26delinsCAGTTTG
c.3528+20_3528+26delinsCAGTTTG (n.3528+20_3528+26delinsCAGTTTG)
c.3063+20_3063+26delinsCAGTTTG (n.3063+20_3063+26delinsCAGTTTG)
18g.23535445_23535450delCA628677527NPC1c.3477+20_3477+25del (n.3477+20_3477+25del)
c.232+20_232+25del
n.232+20_232+25del
c.2555+20_2555+25del
c.154+20_154+25del
c.3528+20_3528+25del (n.3528+20_3528+25del)
c.3063+20_3063+25del (n.3063+20_3063+25del)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.23535445A>CCA2576470823NPC1c.3477+24T>G (n.3477+24T>G)
c.232+24T>G
n.232+24T>G
c.2555+24T>G
c.154+24T>G
c.3528+24T>G (n.3528+24T>G)
c.3063+24T>G (n.3063+24T>G)
 gnomAD v4
18g.23535445A>GCA2641278362NPC1c.3477+24T>C (n.3477+24T>C)
c.232+24T>C
n.232+24T>C
c.2555+24T>C
c.154+24T>C
c.3528+24T>C (n.3528+24T>C)
c.3063+24T>C (n.3063+24T>C)
 gnomAD v4
18g.23535446A=CA2290163823NPC1c.3477+23T= (n.3477+23T=)
c.232+23T=
n.232+23T=
c.2555+23T=
c.154+23T=
c.3528+23T= (n.3528+23T=)
c.3063+23T= (n.3063+23T=)
18g.23535446A>GCA8912760NPC1c.3477+23T>C (n.3477+23T>C)
c.232+23T>C
n.232+23T>C
c.2555+23T>C
c.154+23T>C
c.3528+23T>C (n.3528+23T>C)
c.3063+23T>C (n.3063+23T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23535447C>ACA2576470824NPC1c.3477+22G>T (n.3477+22G>T)
c.232+22G>T
n.232+22G>T
c.2555+22G>T
c.154+22G>T
c.3528+22G>T (n.3528+22G>T)
c.3063+22G>T (n.3063+22G>T)
 gnomAD v4
18g.23535447C=CA2290163825NPC1c.3477+22G= (n.3477+22G=)
c.232+22G=
n.232+22G=
c.2555+22G=
c.154+22G=
c.3528+22G= (n.3528+22G=)
c.3063+22G= (n.3063+22G=)
18g.23535447C>TCA628978695NPC1c.3477+22G>A (n.3477+22G>A)
c.232+22G>A
n.232+22G>A
c.2555+22G>A
c.154+22G>A
c.3528+22G>A (n.3528+22G>A)
c.3063+22G>A (n.3063+22G>A)
 dbSNP gnomAD v2 gnomAD v4
18g.23535447_23535449delinsCTGCA2290163824NPC1c.3477+20_3477+22delinsCAG (n.3477+20_3477+22delinsCAG)
c.232+20_232+22delinsCAG
n.232+20_232+22delinsCAG
c.2555+20_2555+22delinsCAG
c.154+20_154+22delinsCAG
c.3528+20_3528+22delinsCAG (n.3528+20_3528+22delinsCAG)
c.3063+20_3063+22delinsCAG (n.3063+20_3063+22delinsCAG)
18g.23535448T>ACA8912762NPC1c.3477+21A>T (n.3477+21A>T)
c.232+21A>T
n.232+21A>T
c.2555+21A>T
c.154+21A>T
c.3528+21A>T (n.3528+21A>T)
c.3063+21A>T (n.3063+21A>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23535448T>CCA628978697NPC1c.3477+21A>G (n.3477+21A>G)
c.232+21A>G
n.232+21A>G
c.2555+21A>G
c.154+21A>G
c.3528+21A>G (n.3528+21A>G)
c.3063+21A>G (n.3063+21A>G)
 dbSNP gnomAD v2 gnomAD v4
18g.23535448T>GCA2290163827NPC1c.3477+21A>C (n.3477+21A>C)
c.232+21A>C
n.232+21A>C
c.2555+21A>C
c.154+21A>C
c.3528+21A>C (n.3528+21A>C)
c.3063+21A>C (n.3063+21A>C)
 dbSNP
18g.23535448T=CA2290163826NPC1c.3477+21A= (n.3477+21A=)
c.232+21A=
n.232+21A=
c.2555+21A=
c.154+21A=
c.3528+21A= (n.3528+21A=)
c.3063+21A= (n.3063+21A=)
18g.23535448_23535449delCA8912761NPC1c.3477+20_3477+21del (n.3477+20_3477+21del)
c.232+20_232+21del
n.232+20_232+21del
c.2555+20_2555+21del
c.154+20_154+21del
c.3528+20_3528+21del (n.3528+20_3528+21del)
c.3063+20_3063+21del (n.3063+20_3063+21del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23535449G>ACA2580095535NPC1c.3477+20C>T (n.3477+20C>T)
c.232+20C>T
n.232+20C>T
c.2555+20C>T
c.154+20C>T
c.3528+20C>T (n.3528+20C>T)
c.3063+20C>T (n.3063+20C>T)
 ClinVar gnomAD v4
18g.23535449G>TCA2573155190NPC1c.3477+20C>A (n.3477+20C>A)
c.232+20C>A
n.232+20C>A
c.2555+20C>A
c.154+20C>A
c.3528+20C>A (n.3528+20C>A)
c.3063+20C>A (n.3063+20C>A)
 ClinVar dbSNP
18g.23535450A=CA2290163828NPC1c.3477+19T= (n.3477+19T=)
c.232+19T=
n.232+19T=
c.2555+19T=
c.154+19T=
c.3528+19T= (n.3528+19T=)
c.3063+19T= (n.3063+19T=)
18g.23535450A>GCA8912763NPC1c.3477+19T>C (n.3477+19T>C)
c.232+19T>C
n.232+19T>C
c.2555+19T>C
c.154+19T>C
c.3528+19T>C (n.3528+19T>C)
c.3063+19T>C (n.3063+19T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23535451G>ACA628978699NPC1c.3477+18C>T (n.3477+18C>T)
c.232+18C>T
n.232+18C>T
c.2555+18C>T
c.154+18C>T
c.3528+18C>T (n.3528+18C>T)
c.3063+18C>T (n.3063+18C>T)
 dbSNP gnomAD v2
18g.23535451G=CA2290163829NPC1c.3477+18C= (n.3477+18C=)
c.232+18C=
n.232+18C=
c.2555+18C=
c.154+18C=
c.3528+18C= (n.3528+18C=)
c.3063+18C= (n.3063+18C=)
18g.23535451G>TCA2641278367NPC1c.3477+18C>A (n.3477+18C>A)
c.232+18C>A
n.232+18C>A
c.2555+18C>A
c.154+18C>A
c.3528+18C>A (n.3528+18C>A)
c.3063+18C>A (n.3063+18C>A)
 gnomAD v4
18g.23535452A=CA2290163830NPC1c.3477+17T= (n.3477+17T=)
c.232+17T=
n.232+17T=
c.2555+17T=
c.154+17T=
c.3528+17T= (n.3528+17T=)
c.3063+17T= (n.3063+17T=)
18g.23535452A>GCA628978700NPC1c.3477+17T>C (n.3477+17T>C)
c.232+17T>C
n.232+17T>C
c.2555+17T>C
c.154+17T>C
c.3528+17T>C (n.3528+17T>C)
c.3063+17T>C (n.3063+17T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.23535453C>ACA2641278368NPC1c.3477+16G>T (n.3477+16G>T)
c.232+16G>T
n.232+16G>T
c.2555+16G>T
c.154+16G>T
c.3528+16G>T (n.3528+16G>T)
c.3063+16G>T (n.3063+16G>T)
 gnomAD v4
18g.23535453C=CA2290163831NPC1c.3477+16G= (n.3477+16G=)
c.232+16G=
n.232+16G=
c.2555+16G=
c.154+16G=
c.3528+16G= (n.3528+16G=)
c.3063+16G= (n.3063+16G=)
18g.23535453C>GCA2576470826NPC1c.3477+16G>C (n.3477+16G>C)
c.232+16G>C
n.232+16G>C
c.2555+16G>C
c.154+16G>C
c.3528+16G>C (n.3528+16G>C)
c.3063+16G>C (n.3063+16G>C)
18g.23535453C>TCA8912764NPC1c.3477+16G>A (n.3477+16G>A)
c.232+16G>A
n.232+16G>A
c.2555+16G>A
c.154+16G>A
c.3528+16G>A (n.3528+16G>A)
c.3063+16G>A (n.3063+16G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23535453_23535455delinsCTGCA2290163832NPC1c.3477+14_3477+16delinsCAG (n.3477+14_3477+16delinsCAG)
c.232+14_232+16delinsCAG
n.232+14_232+16delinsCAG
c.2555+14_2555+16delinsCAG
c.154+14_154+16delinsCAG
c.3528+14_3528+16delinsCAG (n.3528+14_3528+16delinsCAG)
c.3063+14_3063+16delinsCAG (n.3063+14_3063+16delinsCAG)
18g.23535454T>ACA2576470830NPC1c.3477+15A>T (n.3477+15A>T)
c.232+15A>T
n.232+15A>T
c.2555+15A>T
c.154+15A>T
c.3528+15A>T (n.3528+15A>T)
c.3063+15A>T (n.3063+15A>T)
 gnomAD v4
18g.23535454T>CCA8912765NPC1c.3477+15A>G (n.3477+15A>G)
c.232+15A>G
n.232+15A>G
c.2555+15A>G
c.154+15A>G
c.3528+15A>G (n.3528+15A>G)
c.3063+15A>G (n.3063+15A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23535454T=CA2290163834NPC1c.3477+15A= (n.3477+15A=)
c.232+15A=
n.232+15A=
c.2555+15A=
c.154+15A=
c.3528+15A= (n.3528+15A=)
c.3063+15A= (n.3063+15A=)
18g.23535455_23535456delCA2290163833NPC1c.3477+14_3477+15del (n.3477+14_3477+15del)
c.232+14_232+15del
n.232+14_232+15del
c.2555+14_2555+15del
c.154+14_154+15del
c.3528+14_3528+15del (n.3528+14_3528+15del)
c.3063+14_3063+15del (n.3063+14_3063+15del)
 ClinVar dbSNP
18g.23535456_23535459delCA2641278369NPC1c.3477+12_3477+15del (n.3477+12_3477+15del)
c.232+12_232+15del
n.232+12_232+15del
c.2555+12_2555+15del
c.154+12_154+15del
c.3528+12_3528+15del (n.3528+12_3528+15del)
c.3063+12_3063+15del (n.3063+12_3063+15del)
 gnomAD v4
18g.23535455G>ACA8912766NPC1c.3477+14C>T (n.3477+14C>T)
c.232+14C>T
n.232+14C>T
c.2555+14C>T
c.154+14C>T
c.3528+14C>T (n.3528+14C>T)
c.3063+14C>T (n.3063+14C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23535455G=CA2290163835NPC1c.3477+14C= (n.3477+14C=)
c.232+14C=
n.232+14C=
c.2555+14C=
c.154+14C=
c.3528+14C= (n.3528+14C=)
c.3063+14C= (n.3063+14C=)
18g.23535455G>TCA2641278370NPC1c.3477+14C>A (n.3477+14C>A)
c.232+14C>A
n.232+14C>A
c.2555+14C>A
c.154+14C>A
c.3528+14C>A (n.3528+14C>A)
c.3063+14C>A (n.3063+14C>A)
 gnomAD v4
18g.23535456T>ACA8912767NPC1c.3477+13A>T (n.3477+13A>T)
c.232+13A>T
n.232+13A>T
c.2555+13A>T
c.154+13A>T
c.3528+13A>T (n.3528+13A>T)
c.3063+13A>T (n.3063+13A>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.23535456T>CCA2576470835NPC1c.3477+13A>G (n.3477+13A>G)
c.232+13A>G
n.232+13A>G
c.2555+13A>G
c.154+13A>G
c.3528+13A>G (n.3528+13A>G)
c.3063+13A>G (n.3063+13A>G)
18g.23535456T>GCA2734226279NPC1c.3477+13A>C (n.3477+13A>C)
c.232+13A>C
n.232+13A>C
c.2555+13A>C
c.154+13A>C
c.3528+13A>C (n.3528+13A>C)
c.3063+13A>C (n.3063+13A>C)
 dbSNP
18g.23535456T=CA2290163836NPC1c.3477+13A= (n.3477+13A=)
c.232+13A=
n.232+13A=
c.2555+13A=
c.154+13A=
c.3528+13A= (n.3528+13A=)
c.3063+13A= (n.3063+13A=)
18g.23535457A>CCA2739268567NPC1c.3477+12T>G (n.3477+12T>G)
c.232+12T>G
n.232+12T>G
c.2555+12T>G
c.154+12T>G
c.3528+12T>G (n.3528+12T>G)
c.3063+12T>G (n.3063+12T>G)
 ClinVar
18g.23535457A>GCA2740093977NPC1c.3477+12T>C (n.3477+12T>C)
c.232+12T>C
n.232+12T>C
c.2555+12T>C
c.154+12T>C
c.3528+12T>C (n.3528+12T>C)
c.3063+12T>C (n.3063+12T>C)
 ClinVar
18g.23535459G>ACA2290163837NPC1c.3477+10C>T (n.3477+10C>T)
c.232+10C>T
n.232+10C>T
c.2555+10C>T
c.154+10C>T
c.3528+10C>T (n.3528+10C>T)
c.3063+10C>T (n.3063+10C>T)
 ClinVar dbSNP gnomAD v4
18g.23535459G>CCA2576470838NPC1c.3477+10C>G (n.3477+10C>G)
c.232+10C>G
n.232+10C>G
c.2555+10C>G
c.154+10C>G
c.3528+10C>G (n.3528+10C>G)
c.3063+10C>G (n.3063+10C>G)
 ClinVar gnomAD v4
18g.23535459G=CA2290163838NPC1c.3477+10C= (n.3477+10C=)
c.232+10C=
n.232+10C=
c.2555+10C=
c.154+10C=
c.3528+10C= (n.3528+10C=)
c.3063+10C= (n.3063+10C=)
18g.23535459G>TCA2641278371NPC1c.3477+10C>A (n.3477+10C>A)
c.232+10C>A
n.232+10C>A
c.2555+10C>A
c.154+10C>A
c.3528+10C>A (n.3528+10C>A)
c.3063+10C>A (n.3063+10C>A)
 gnomAD v4
18g.23535460A>TCA2641278372NPC1c.3477+9T>A (n.3477+9T>A)
c.232+9T>A
n.232+9T>A
c.2555+9T>A
c.154+9T>A
c.3528+9T>A (n.3528+9T>A)
c.3063+9T>A (n.3063+9T>A)
 gnomAD v4
18g.23535461G>ACA2573155191NPC1c.3477+8C>T (n.3477+8C>T)
c.232+8C>T
n.232+8C>T
c.2555+8C>T
c.154+8C>T
c.3528+8C>T (n.3528+8C>T)
c.3063+8C>T (n.3063+8C>T)
 ClinVar dbSNP
18g.23535461G>TCA2641278374NPC1c.3477+8C>A (n.3477+8C>A)
c.232+8C>A
n.232+8C>A
c.2555+8C>A
c.154+8C>A
c.3528+8C>A (n.3528+8C>A)
c.3063+8C>A (n.3063+8C>A)
 gnomAD v4
18g.23535462G>ACA628978704NPC1c.3477+7C>T (n.3477+7C>T)
c.232+7C>T
n.232+7C>T
c.2555+7C>T
c.154+7C>T
c.3528+7C>T (n.3528+7C>T)
c.3063+7C>T (n.3063+7C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23535462G=CA2290163839NPC1c.3477+7C= (n.3477+7C=)
c.232+7C=
n.232+7C=
c.2555+7C=
c.154+7C=
c.3528+7C= (n.3528+7C=)
c.3063+7C= (n.3063+7C=)
18g.23535462G>TCA2641278376NPC1c.3477+7C>A (n.3477+7C>A)
c.232+7C>A
n.232+7C>A
c.2555+7C>A
c.154+7C>A
c.3528+7C>A (n.3528+7C>A)
c.3063+7C>A (n.3063+7C>A)
 gnomAD v4
18g.23535463A>TCA2641278378NPC1c.3477+6T>A (n.3477+6T>A)
c.232+6T>A
n.232+6T>A
c.2555+6T>A
c.154+6T>A
c.3528+6T>A (n.3528+6T>A)
c.3063+6T>A (n.3063+6T>A)
 gnomAD v4
18g.23535465T>CCA8912768NPC1c.3477+4A>G (n.3477+4A>G)
c.232+4A>G
n.232+4A>G
c.2555+4A>G
c.154+4A>G
c.3528+4A>G (n.3528+4A>G)
c.3063+4A>G (n.3063+4A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23535465T=CA2290163840NPC1c.3477+4A= (n.3477+4A=)
c.232+4A=
n.232+4A=
c.2555+4A=
c.154+4A=
c.3528+4A= (n.3528+4A=)
c.3063+4A= (n.3063+4A=)
18g.23535466C>GCA2641278380NPC1c.3477+3G>C (n.3477+3G>C)
c.232+3G>C
n.232+3G>C
c.2555+3G>C
c.154+3G>C
c.3528+3G>C (n.3528+3G>C)
c.3063+3G>C (n.3063+3G>C)
 gnomAD v4
18g.23535467A=CA2290163841NPC1c.3477+2T= (n.3477+2T=)
c.232+2T=
n.232+2T=
c.2555+2T=
c.154+2T=
c.3528+2T= (n.3528+2T=)
c.3063+2T= (n.3063+2T=)
18g.23535467A>CCA401791111NPC1c.3477+2T>G (n.3477+2T>G)
c.232+2T>G
n.232+2T>G
c.2555+2T>G
c.154+2T>G
c.3528+2T>G (n.3528+2T>G)
c.3063+2T>G (n.3063+2T>G)
18g.23535467A>GCA8912769NPC1c.3477+2T>C (n.3477+2T>C)
c.232+2T>C
n.232+2T>C
c.2555+2T>C
c.154+2T>C
c.3528+2T>C (n.3528+2T>C)
c.3063+2T>C (n.3063+2T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23535467A>TCA401791112NPC1c.3477+2T>A (n.3477+2T>A)
c.232+2T>A
n.232+2T>A
c.2555+2T>A
c.154+2T>A
c.3528+2T>A (n.3528+2T>A)
c.3063+2T>A (n.3063+2T>A)
18g.23535468C>ACA401791113NPC1c.3477+1G>T (n.3477+1G>T)
c.232+1G>T
n.232+1G>T
c.2555+1G>T
c.154+1G>T
c.3528+1G>T (n.3528+1G>T)
c.3063+1G>T (n.3063+1G>T)
 dbSNP gnomAD v2 gnomAD v4
18g.23535468C=CA2290163842NPC1c.3477+1G= (n.3477+1G=)
c.232+1G=
n.232+1G=
c.2555+1G=
c.154+1G=
c.3528+1G= (n.3528+1G=)
c.3063+1G= (n.3063+1G=)
18g.23535468C>GCA401791114NPC1c.3477+1G>C (n.3477+1G>C)
c.232+1G>C
n.232+1G>C
c.2555+1G>C
c.154+1G>C
c.3528+1G>C (n.3528+1G>C)
c.3063+1G>C (n.3063+1G>C)
18g.23535468C>TCA401791115NPC1c.3477+1G>A (n.3477+1G>A)
c.232+1G>A
n.232+1G>A
c.2555+1G>A
c.154+1G>A
c.3528+1G>A (n.3528+1G>A)
c.3063+1G>A (n.3063+1G>A)
 ClinVar dbSNP
18g.23535469C>ACA401791118NPC1c.3477G>T (p.Met1159Ile)
c.232G>T
n.232G>T
c.2555G>T
c.154G>T
c.3528G>T (p.Met1176Ile)
c.3063G>T (p.Met1021Ile)
18g.23535469C>GCA401791116NPC1c.3477G>C (p.Met1159Ile)
c.232G>C
n.232G>C
c.2555G>C
c.154G>C
c.3528G>C (p.Met1176Ile)
c.3063G>C (p.Met1021Ile)
18g.23535469C>TCA401791117NPC1c.3477G>A (p.Met1159Ile)
c.232G>A
n.232G>A
c.2555G>A
c.154G>A
c.3528G>A (p.Met1176Ile)
c.3063G>A (p.Met1021Ile)
 gnomAD v4
18g.23535470A>CCA401791119NPC1c.3476T>G (p.Met1159Arg)
c.231T>G
n.231T>G
c.2554T>G
c.153T>G
c.3527T>G (p.Met1176Arg)
c.3062T>G (p.Met1021Arg)
18g.23535470A>GCA401791120NPC1c.3476T>C (p.Met1159Thr)
c.231T>C
n.231T>C
c.2554T>C
c.153T>C
c.3527T>C (p.Met1176Thr)
c.3062T>C (p.Met1021Thr)
 ClinVar gnomAD v4
18g.23535470A>TCA401791121NPC1c.3476T>A (p.Met1159Lys)
c.231T>A
n.231T>A
c.2554T>A
c.153T>A
c.3527T>A (p.Met1176Lys)
c.3062T>A (p.Met1021Lys)
18g.23535471T>ACA401791122NPC1c.3475A>T (p.Met1159Leu)
c.230A>T
n.230A>T
c.2553A>T
c.152A>T
c.3526A>T (p.Met1176Leu)
c.3061A>T (p.Met1021Leu)
18g.23535471T>CCA401791123NPC1c.3475A>G (p.Met1159Val)
c.230A>G
n.230A>G
c.2553A>G
c.152A>G
c.3526A>G (p.Met1176Val)
c.3061A>G (p.Met1021Val)
18g.23535471T>GCA401791124NPC1c.3475A>C (p.Met1159Leu)
c.230A>C
n.230A>C
c.2553A>C
c.152A>C
c.3526A>C (p.Met1176Leu)
c.3061A>C (p.Met1021Leu)
18g.23535472C>ACA503521642NPC1c.3474G>T (p.Val1158=)
c.229G>T
n.229G>T
c.2552G>T
c.151G>T
c.3525G>T (p.Val1175=)
c.3060G>T (p.Val1020=)
18g.23535472C>GCA503521643NPC1c.3474G>C (p.Val1158=)
c.229G>C
n.229G>C
c.2552G>C
c.151G>C
c.3525G>C (p.Val1175=)
c.3060G>C (p.Val1020=)
18g.23535472C>TCA503521644NPC1c.3474G>A (p.Val1158=)
c.229G>A
n.229G>A
c.2552G>A
c.151G>A
c.3525G>A (p.Val1175=)
c.3060G>A (p.Val1020=)
18g.23535473A>CCA401791125NPC1c.3473T>G (p.Val1158Gly)
c.228T>G
n.228T>G
c.2551T>G
c.150T>G
c.3524T>G (p.Val1175Gly)
c.3059T>G (p.Val1020Gly)
18g.23535473A>GCA401791126NPC1c.3473T>C (p.Val1158Ala)
c.228T>C
n.228T>C
c.2551T>C
c.150T>C
c.3524T>C (p.Val1175Ala)
c.3059T>C (p.Val1020Ala)
18g.23535473A>TCA401791127NPC1c.3473T>A (p.Val1158Glu)
c.228T>A
n.228T>A
c.2551T>A
c.150T>A
c.3524T>A (p.Val1175Glu)
c.3059T>A (p.Val1020Glu)
18g.23535473_23535476delinsTTCA2580095537NPC1c.3470_3473delinsAA (p.Leu1157GlnfsTer?)
c.225_228delinsAA
n.225_228delinsAA
c.2548_2551delinsAA
c.147_150delinsAA
c.3521_3524delinsAA (p.Leu1174GlnfsTer?)
c.3056_3059delinsAA (p.Leu1019GlnfsTer?)
 ClinVar
18g.23535474C>ACA401791128NPC1c.3472G>T (p.Val1158Leu)
c.227G>T
n.227G>T
c.2550G>T
c.149G>T
c.3523G>T (p.Val1175Leu)
c.3058G>T (p.Val1020Leu)
18g.23535474C=CA2290163843NPC1c.3472G= (p.Val1158=)
c.227G=
n.227G=
c.2550G=
c.149G=
c.3523G= (p.Val1175=)
c.3058G= (p.Val1020=)
18g.23535474C>GCA401791129NPC1c.3472G>C (p.Val1158Leu)
c.227G>C
n.227G>C
c.2550G>C
c.149G>C
c.3523G>C (p.Val1175Leu)
c.3058G>C (p.Val1020Leu)
 dbSNP
18g.23535474C>TCA401791130NPC1c.3472G>A (p.Val1158Met)
c.227G>A
n.227G>A
c.2550G>A
c.149G>A
c.3523G>A (p.Val1175Met)
c.3058G>A (p.Val1020Met)
 dbSNP gnomAD v2 gnomAD v4
18g.23535474_23535486delinsCCAGGTTGACCAACA2290163844NPC1c.3460_3472delinsTTGGTCAACCTGG (p.Leu1154=)
c.215_227delinsTTGGTCAACCTGG
n.215_227delinsTTGGTCAACCTGG
c.2538_2550delinsTTGGTCAACCTGG
c.137_149delinsTTGGTCAACCTGG
c.3511_3523delinsTTGGTCAACCTGG (p.Leu1171=)
c.3046_3058delinsTTGGTCAACCTGG (p.Leu1016=)
18g.23535475C>ACA503521645NPC1c.3471G>T (p.Leu1157=)
c.226G>T
n.226G>T
c.2549G>T
c.148G>T
c.3522G>T (p.Leu1174=)
c.3057G>T (p.Leu1019=)
18g.23535475C=CA2290163845NPC1c.3471G= (p.Leu1157=)
c.226G=
n.226G=
c.2549G=
c.148G=
c.3522G= (p.Leu1174=)
c.3057G= (p.Leu1019=)
18g.23535475C>GCA503521646NPC1c.3471G>C (p.Leu1157=)
c.226G>C
n.226G>C
c.2549G>C
c.148G>C
c.3522G>C (p.Leu1174=)
c.3057G>C (p.Leu1019=)
 ClinVar dbSNP
18g.23535475C>TCA8912770NPC1c.3471G>A (p.Leu1157=)
c.226G>A
n.226G>A
c.2549G>A
c.148G>A
c.3522G>A (p.Leu1174=)
c.3057G>A (p.Leu1019=)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23535475_23535486delCA1139665976NPC1c.3460_3471del (p.Leu1154_Leu1157del)
c.215_226del
n.215_226del
c.2538_2549del
c.137_148del
c.3511_3522del (p.Leu1171_Leu1174del)
c.3046_3057del (p.Leu1016_Leu1019del)
 ClinVar dbSNP
18g.23535476A>CCA401791133NPC1c.3470T>G (p.Leu1157Arg)
c.225T>G
n.225T>G
c.2548T>G
c.147T>G
c.3521T>G (p.Leu1174Arg)
c.3056T>G (p.Leu1019Arg)
18g.23535476A>GCA401791132NPC1c.3470T>C (p.Leu1157Pro)
c.225T>C
n.225T>C
c.2548T>C
c.147T>C
c.3521T>C (p.Leu1174Pro)
c.3056T>C (p.Leu1019Pro)
18g.23535476A>TCA401791131NPC1c.3470T>A (p.Leu1157Gln)
c.225T>A
n.225T>A
c.2548T>A
c.147T>A
c.3521T>A (p.Leu1174Gln)
c.3056T>A (p.Leu1019Gln)
18g.23535477G>ACA503521647NPC1c.3469C>T (p.Leu1157=)
c.224C>T
n.224C>T
c.2547C>T
c.146C>T
c.3520C>T (p.Leu1174=)
c.3055C>T (p.Leu1019=)
 dbSNP
18g.23535477G>CCA401791134NPC1c.3469C>G (p.Leu1157Val)
c.224C>G
n.224C>G
c.2547C>G
c.146C>G
c.3520C>G (p.Leu1174Val)
c.3055C>G (p.Leu1019Val)
18g.23535477G=CA2290163846NPC1c.3469C= (p.Leu1157=)
c.224C=
n.224C=
c.2547C=
c.146C=
c.3520C= (p.Leu1174=)
c.3055C= (p.Leu1019=)
18g.23535477G>TCA401791135NPC1c.3469C>A (p.Leu1157Met)
c.224C>A
n.224C>A
c.2547C>A
c.146C>A
c.3520C>A (p.Leu1174Met)
c.3055C>A (p.Leu1019Met)
18g.23535478G>ACA503521648NPC1c.3468C>T (p.Asn1156=)
c.223C>T
n.223C>T
c.2546C>T
c.145C>T
c.3519C>T (p.Asn1173=)
c.3054C>T (p.Asn1018=)
 gnomAD v4
18g.23535478G>CCA401791136NPC1c.3468C>G (p.Asn1156Lys)
c.223C>G
n.223C>G
c.2546C>G
c.145C>G
c.3519C>G (p.Asn1173Lys)
c.3054C>G (p.Asn1018Lys)
18g.23535478G>TCA401791137NPC1c.3468C>A (p.Asn1156Lys)
c.223C>A
n.223C>A
c.2546C>A
c.145C>A
c.3519C>A (p.Asn1173Lys)
c.3054C>A (p.Asn1018Lys)
 dbSNP
18g.23535479T>ACA401791138NPC1c.3467A>T (p.Asn1156Ile)
c.222A>T
n.222A>T
c.2545A>T
c.144A>T
c.3518A>T (p.Asn1173Ile)
c.3053A>T (p.Asn1018Ile)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.23535479T>CCA252497NPC1c.3467A>G (p.Asn1156Ser)
c.222A>G
n.222A>G
c.2545A>G
c.144A>G
c.3518A>G (p.Asn1173Ser)
c.3053A>G (p.Asn1018Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23535479T>GCA401791139NPC1c.3467A>C (p.Asn1156Thr)
c.222A>C
n.222A>C
c.2545A>C
c.144A>C
c.3518A>C (p.Asn1173Thr)
c.3053A>C (p.Asn1018Thr)
 ClinVar gnomAD v4
18g.23535479T=CA2290163847NPC1c.3467A= (p.Asn1156=)
c.222A=
n.222A=
c.2545A=
c.144A=
c.3518A= (p.Asn1173=)
c.3053A= (p.Asn1018=)
18g.23535480T>ACA401791140NPC1c.3466A>T (p.Asn1156Tyr)
c.221A>T
n.221A>T
c.2544A>T
c.143A>T
c.3517A>T (p.Asn1173Tyr)
c.3052A>T (p.Asn1018Tyr)
18g.23535480T>CCA8912771NPC1c.3466A>G (p.Asn1156Asp)
c.221A>G
n.221A>G
c.2544A>G
c.143A>G
c.3517A>G (p.Asn1173Asp)
c.3052A>G (p.Asn1018Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23535480T>GCA401791141NPC1c.3466A>C (p.Asn1156His)
c.221A>C
n.221A>C
c.2544A>C
c.143A>C
c.3517A>C (p.Asn1173His)
c.3052A>C (p.Asn1018His)
18g.23535480T=CA2290163848NPC1c.3466A= (p.Asn1156=)
c.221A=
n.221A=
c.2544A=
c.143A=
c.3517A= (p.Asn1173=)
c.3052A= (p.Asn1018=)
18g.23535481G>ACA503521649NPC1c.3465C>T (p.Val1155=)
c.220C>T
n.220C>T
c.2543C>T
c.142C>T
c.3516C>T (p.Val1172=)
c.3051C>T (p.Val1017=)
 gnomAD v4
18g.23535481G>CCA503521650NPC1c.3465C>G (p.Val1155=)
c.220C>G
n.220C>G
c.2543C>G
c.142C>G
c.3516C>G (p.Val1172=)
c.3051C>G (p.Val1017=)
18g.23535481G>TCA503521651NPC1c.3465C>A (p.Val1155=)
c.220C>A
n.220C>A
c.2543C>A
c.142C>A
c.3516C>A (p.Val1172=)
c.3051C>A (p.Val1017=)
18g.23535482A>CCA401791142NPC1c.3464T>G (p.Val1155Gly)
c.219T>G
n.219T>G
c.2542T>G
c.141T>G
c.3515T>G (p.Val1172Gly)
c.3050T>G (p.Val1017Gly)
18g.23535482A>GCA401791143NPC1c.3464T>C (p.Val1155Ala)
c.219T>C
n.219T>C
c.2542T>C
c.141T>C
c.3515T>C (p.Val1172Ala)
c.3050T>C (p.Val1017Ala)
18g.23535482A>TCA401791144NPC1c.3464T>A (p.Val1155Asp)
c.219T>A
n.219T>A
c.2542T>A
c.141T>A
c.3515T>A (p.Val1172Asp)
c.3050T>A (p.Val1017Asp)
18g.23535483C>ACA401791146NPC1c.3463G>T (p.Val1155Phe)
c.218G>T
n.218G>T
c.2541G>T
c.140G>T
c.3514G>T (p.Val1172Phe)
c.3049G>T (p.Val1017Phe)
18g.23535483C=CA2290163849NPC1c.3463G= (p.Val1155=)
c.218G=
n.218G=
c.2541G=
c.140G=
c.3514G= (p.Val1172=)
c.3049G= (p.Val1017=)
18g.23535483C>GCA401791145NPC1c.3463G>C (p.Val1155Leu)
c.218G>C
n.218G>C
c.2541G>C
c.140G>C
c.3514G>C (p.Val1172Leu)
c.3049G>C (p.Val1017Leu)
18g.23535483C>TCA8912772NPC1c.3463G>A (p.Val1155Ile)
c.218G>A
n.218G>A
c.2541G>A
c.140G>A
c.3514G>A (p.Val1172Ile)
c.3049G>A (p.Val1017Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23535484C>ACA401791147NPC1c.3462G>T (p.Leu1154Phe)
c.217G>T
n.217G>T
c.2540G>T
c.139G>T
c.3513G>T (p.Leu1171Phe)
c.3048G>T (p.Leu1016Phe)
 gnomAD v4
18g.23535484C>GCA401791148NPC1c.3462G>C (p.Leu1154Phe)
c.217G>C
n.217G>C
c.2540G>C
c.139G>C
c.3513G>C (p.Leu1171Phe)
c.3048G>C (p.Leu1016Phe)
18g.23535484C>TCA503521652NPC1c.3462G>A (p.Leu1154=)
c.217G>A
n.217G>A
c.2540G>A
c.139G>A
c.3513G>A (p.Leu1171=)
c.3048G>A (p.Leu1016=)
18g.23535485A=CA2290163850NPC1c.3461T= (p.Leu1154=)
c.216T=
n.216T=
c.2539T=
c.138T=
c.3512T= (p.Leu1171=)
c.3047T= (p.Leu1016=)
18g.23535485A>CCA401791149NPC1c.3461T>G (p.Leu1154Trp)
c.216T>G
n.216T>G
c.2539T>G
c.138T>G
c.3512T>G (p.Leu1171Trp)
c.3047T>G (p.Leu1016Trp)
18g.23535485A>GCA401791150NPC1c.3461T>C (p.Leu1154Ser)
c.216T>C
n.216T>C
c.2539T>C
c.138T>C
c.3512T>C (p.Leu1171Ser)
c.3047T>C (p.Leu1016Ser)
18g.23535485A>TCA401791151NPC1c.3461T>A (p.Leu1154Ter)
c.216T>A
n.216T>A
c.2539T>A
c.138T>A
c.3512T>A (p.Leu1171Ter)
c.3047T>A (p.Leu1016Ter)
 ClinVar dbSNP
18g.23535486A=CA2290163851NPC1c.3460T= (p.Leu1154=)
c.215T=
n.215T=
c.2538T=
c.137T=
c.3511T= (p.Leu1171=)
c.3046T= (p.Leu1016=)
18g.23535486A>CCA401791152NPC1c.3460T>G (p.Leu1154Val)
c.215T>G
n.215T>G
c.2538T>G
c.137T>G
c.3511T>G (p.Leu1171Val)
c.3046T>G (p.Leu1016Val)
18g.23535486A>GCA503521653NPC1c.3460T>C (p.Leu1154=)
c.215T>C
n.215T>C
c.2538T>C
c.137T>C
c.3511T>C (p.Leu1171=)
c.3046T>C (p.Leu1016=)
 dbSNP gnomAD v2 gnomAD v4
18g.23535486A>TCA401791153NPC1c.3460T>A (p.Leu1154Met)
c.215T>A
n.215T>A
c.2538T>A
c.137T>A
c.3511T>A (p.Leu1171Met)
c.3046T>A (p.Leu1016Met)
18g.23535487G>ACA503521654NPC1c.3459C>T (p.Ser1153=)
c.214C>T
n.214C>T
c.2537C>T
c.136C>T
c.3510C>T (p.Ser1170=)
c.3045C>T (p.Ser1015=)
18g.23535487G>CCA503521655NPC1c.3459C>G (p.Ser1153=)
c.214C>G
n.214C>G
c.2537C>G
c.136C>G
c.3510C>G (p.Ser1170=)
c.3045C>G (p.Ser1015=)
18g.23535487G=CA2290163852NPC1c.3459C= (p.Ser1153=)
c.214C=
n.214C=
c.2537C=
c.136C=
c.3510C= (p.Ser1170=)
c.3045C= (p.Ser1015=)
18g.23535487G>TCA503521656NPC1c.3459C>A (p.Ser1153=)
c.214C>A
n.214C>A
c.2537C>A
c.136C>A
c.3510C>A (p.Ser1170=)
c.3045C>A (p.Ser1015=)
18g.23535488G>ACA401791154NPC1c.3458C>T (p.Ser1153Phe)
c.213C>T
n.213C>T
c.2536C>T
c.135C>T
c.3509C>T (p.Ser1170Phe)
c.3044C>T (p.Ser1015Phe)
18g.23535488G>CCA401791155NPC1c.3458C>G (p.Ser1153Cys)
c.213C>G
n.213C>G
c.2536C>G
c.135C>G
c.3509C>G (p.Ser1170Cys)
c.3044C>G (p.Ser1015Cys)
18g.23535488G>TCA401791156NPC1c.3458C>A (p.Ser1153Tyr)
c.213C>A
n.213C>A
c.2536C>A
c.135C>A
c.3509C>A (p.Ser1170Tyr)
c.3044C>A (p.Ser1015Tyr)
18g.23535488_23535489dupCA628978705NPC1c.3457_3458dup (p.Leu1154ProfsTer6)
c.212_213dup
n.212_213dup
c.2535_2536dup
c.134_135dup
c.3508_3509dup (p.Leu1171ProfsTer6)
c.3043_3044dup (p.Leu1016ProfsTer6)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.23535489A>CCA401791157NPC1c.3457T>G (p.Ser1153Ala)
c.212T>G
n.212T>G
c.2535T>G
c.134T>G
c.3508T>G (p.Ser1170Ala)
c.3043T>G (p.Ser1015Ala)
18g.23535489A>GCA401791158NPC1c.3457T>C (p.Ser1153Pro)
c.212T>C
n.212T>C
c.2535T>C
c.134T>C
c.3508T>C (p.Ser1170Pro)
c.3043T>C (p.Ser1015Pro)
18g.23535489A>TCA401791159NPC1c.3457T>A (p.Ser1153Thr)
c.212T>A
n.212T>A
c.2535T>A
c.134T>A
c.3508T>A (p.Ser1170Thr)
c.3043T>A (p.Ser1015Thr)
18g.23535490T>ACA503521657NPC1c.3456A>T (p.Val1152=)
c.211A>T
n.211A>T
c.2534A>T
c.133A>T
c.3507A>T (p.Val1169=)
c.3042A>T (p.Val1014=)
18g.23535490T>CCA503521659NPC1c.3456A>G (p.Val1152=)
c.211A>G
n.211A>G
c.2534A>G
c.133A>G
c.3507A>G (p.Val1169=)
c.3042A>G (p.Val1014=)
 ClinVar dbSNP gnomAD v4
18g.23535490T>GCA503521658NPC1c.3456A>C (p.Val1152=)
c.211A>C
n.211A>C
c.2534A>C
c.133A>C
c.3507A>C (p.Val1169=)
c.3042A>C (p.Val1014=)
18g.23535490T=CA2290163853NPC1c.3456A= (p.Val1152=)
c.211A=
n.211A=
c.2534A=
c.133A=
c.3507A= (p.Val1169=)
c.3042A= (p.Val1014=)
18g.23535491A>CCA401791162NPC1c.3455T>G (p.Val1152Gly)
c.210T>G
n.210T>G
c.2533T>G
c.132T>G
c.3506T>G (p.Val1169Gly)
c.3041T>G (p.Val1014Gly)
18g.23535491A>GCA401791161NPC1c.3455T>C (p.Val1152Ala)
c.210T>C
n.210T>C
c.2533T>C
c.132T>C
c.3506T>C (p.Val1169Ala)
c.3041T>C (p.Val1014Ala)
 gnomAD v4
18g.23535491A>TCA401791160NPC1c.3455T>A (p.Val1152Glu)
c.210T>A
n.210T>A
c.2533T>A
c.132T>A
c.3506T>A (p.Val1169Glu)
c.3041T>A (p.Val1014Glu)
18g.23535492C>ACA401791163NPC1c.3454G>T (p.Val1152Leu)
c.209G>T
n.209G>T
c.2532G>T
c.131G>T
c.3505G>T (p.Val1169Leu)
c.3040G>T (p.Val1014Leu)
18g.23535492C=CA2290163854NPC1c.3454G= (p.Val1152=)
c.209G=
n.209G=
c.2532G=
c.131G=
c.3505G= (p.Val1169=)
c.3040G= (p.Val1014=)
18g.23535492C>GCA401791164NPC1c.3454G>C (p.Val1152Leu)
c.209G>C
n.209G>C
c.2532G>C
c.131G>C
c.3505G>C (p.Val1169Leu)
c.3040G>C (p.Val1014Leu)
18g.23535492C>TCA401791165NPC1c.3454G>A (p.Val1152Ile)
c.209G>A
n.209G>A
c.2532G>A
c.131G>A
c.3505G>A (p.Val1169Ile)
c.3040G>A (p.Val1014Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23535493A>CCA503521660NPC1c.3453T>G (p.Ala1151=)
c.208T>G
n.208T>G
c.2531T>G
c.130T>G
c.3504T>G (p.Ala1168=)
c.3039T>G (p.Ala1013=)
18g.23535493A>GCA503521661NPC1c.3453T>C (p.Ala1151=)
c.208T>C
n.208T>C
c.2531T>C
c.130T>C
c.3504T>C (p.Ala1168=)
c.3039T>C (p.Ala1013=)
 gnomAD v4
18g.23535493A>TCA503521662NPC1c.3453T>A (p.Ala1151=)
c.208T>A
n.208T>A
c.2531T>A
c.130T>A
c.3504T>A (p.Ala1168=)
c.3039T>A (p.Ala1013=)
 ClinVar gnomAD v4
18g.23535494G>ACA401791166NPC1c.3452C>T (p.Ala1151Val)
c.207C>T
n.207C>T
c.2530C>T
c.129C>T
c.3503C>T (p.Ala1168Val)
c.3038C>T (p.Ala1013Val)
18g.23535494G>CCA401791167NPC1c.3452C>G (p.Ala1151Gly)
c.207C>G
n.207C>G
c.2530C>G
c.129C>G
c.3503C>G (p.Ala1168Gly)
c.3038C>G (p.Ala1013Gly)
18g.23535494G>TCA401791168NPC1c.3452C>A (p.Ala1151Asp)
c.207C>A
n.207C>A
c.2530C>A
c.129C>A
c.3503C>A (p.Ala1168Asp)
c.3038C>A (p.Ala1013Asp)
18g.23535495C>ACA401791169NPC1c.3451G>T (p.Ala1151Ser)
c.206G>T
n.206G>T
c.2529G>T
c.128G>T
c.3502G>T (p.Ala1168Ser)
c.3037G>T (p.Ala1013Ser)
 ClinVar dbSNP gnomAD v4
18g.23535495C=CA2290163855NPC1c.3451G= (p.Ala1151=)
c.206G=
n.206G=
c.2529G=
c.128G=
c.3502G= (p.Ala1168=)
c.3037G= (p.Ala1013=)
18g.23535495C>GCA401791170NPC1c.3451G>C (p.Ala1151Pro)
c.206G>C
n.206G>C
c.2529G>C
c.128G>C
c.3502G>C (p.Ala1168Pro)
c.3037G>C (p.Ala1013Pro)
18g.23535495C>TCA8912773NPC1c.3451G>A (p.Ala1151Thr)
c.206G>A
n.206G>A
c.2529G>A
c.128G>A
c.3502G>A (p.Ala1168Thr)
c.3037G>A (p.Ala1013Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
18g.23535496G>ACA8912774NPC1c.3450C>T (p.Asn1150=)
c.205C>T
n.205C>T
c.2528C>T
c.127C>T
c.3501C>T (p.Asn1167=)
c.3036C>T (p.Asn1012=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23535496G>CCA401791171NPC1c.3450C>G (p.Asn1150Lys)
c.205C>G
n.205C>G
c.2528C>G
c.127C>G
c.3501C>G (p.Asn1167Lys)
c.3036C>G (p.Asn1012Lys)
18g.23535496G=CA2290163856NPC1c.3450C= (p.Asn1150=)
c.205C=
n.205C=
c.2528C=
c.127C=
c.3501C= (p.Asn1167=)
c.3036C= (p.Asn1012=)
18g.23535496G>TCA297079142NPC1c.3450C>A (p.Asn1150Lys)
c.205C>A
n.205C>A
c.2528C>A
c.127C>A
c.3501C>A (p.Asn1167Lys)
c.3036C>A (p.Asn1012Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23535497T>ACA401791174NPC1c.3449A>T (p.Asn1150Ile)
c.204A>T
n.204A>T
c.2527A>T
c.126A>T
c.3500A>T (p.Asn1167Ile)
c.3035A>T (p.Asn1012Ile)
18g.23535497T>CCA401791173NPC1c.3449A>G (p.Asn1150Ser)
c.204A>G
n.204A>G
c.2527A>G
c.126A>G
c.3500A>G (p.Asn1167Ser)
c.3035A>G (p.Asn1012Ser)
18g.23535497T>GCA401791172NPC1c.3449A>C (p.Asn1150Thr)
c.204A>C
n.204A>C
c.2527A>C
c.126A>C
c.3500A>C (p.Asn1167Thr)
c.3035A>C (p.Asn1012Thr)
18g.23535498T>ACA401791177NPC1c.3448A>T (p.Asn1150Tyr)
c.203A>T
n.203A>T
c.2526A>T
c.125A>T
c.3499A>T (p.Asn1167Tyr)
c.3034A>T (p.Asn1012Tyr)
18g.23535498T>CCA401791175NPC1c.3448A>G (p.Asn1150Asp)
c.203A>G
n.203A>G
c.2526A>G
c.125A>G
c.3499A>G (p.Asn1167Asp)
c.3034A>G (p.Asn1012Asp)
18g.23535498T>GCA401791176NPC1c.3448A>C (p.Asn1150His)
c.203A>C
n.203A>C
c.2526A>C
c.125A>C
c.3499A>C (p.Asn1167His)
c.3034A>C (p.Asn1012His)
18g.23535499C>ACA503521663NPC1c.3447G>T (p.Leu1149=)
c.202G>T
n.202G>T
c.2525G>T
c.124G>T
c.3498G>T (p.Leu1166=)
c.3033G>T (p.Leu1011=)
18g.23535499C=CA2290163857NPC1c.3447G= (p.Leu1149=)
c.202G=
n.202G=
c.2525G=
c.124G=
c.3498G= (p.Leu1166=)
c.3033G= (p.Leu1011=)
18g.23535499C>GCA503521664NPC1c.3447G>C (p.Leu1149=)
c.202G>C
n.202G>C
c.2525G>C
c.124G>C
c.3498G>C (p.Leu1166=)
c.3033G>C (p.Leu1011=)
18g.23535499C>TCA8912775NPC1c.3447G>A (p.Leu1149=)
c.202G>A
n.202G>A
c.2525G>A
c.124G>A
c.3498G>A (p.Leu1166=)
c.3033G>A (p.Leu1011=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23535500A>CCA401791178NPC1c.3446T>G (p.Leu1149Arg)
c.201T>G
n.201T>G
c.2524T>G
c.123T>G
c.3497T>G (p.Leu1166Arg)
c.3032T>G (p.Leu1011Arg)
18g.23535500A>GCA401791179NPC1c.3446T>C (p.Leu1149Pro)
c.201T>C
n.201T>C
c.2524T>C
c.123T>C
c.3497T>C (p.Leu1166Pro)
c.3032T>C (p.Leu1011Pro)
18g.23535500A>TCA401791180NPC1c.3446T>A (p.Leu1149Gln)
c.201T>A
n.201T>A
c.2524T>A
c.123T>A
c.3497T>A (p.Leu1166Gln)
c.3032T>A (p.Leu1011Gln)
18g.23535501G>ACA503521665NPC1c.3445C>T (p.Leu1149=)
c.200C>T
n.200C>T
c.2523C>T
c.122C>T
c.3496C>T (p.Leu1166=)
c.3031C>T (p.Leu1011=)
 ClinVar
18g.23535501G>CCA401791181NPC1c.3445C>G (p.Leu1149Val)
c.200C>G
n.200C>G
c.2523C>G
c.122C>G
c.3496C>G (p.Leu1166Val)
c.3031C>G (p.Leu1011Val)
18g.23535501G>TCA401791182NPC1c.3445C>A (p.Leu1149Met)
c.200C>A
n.200C>A
c.2523C>A
c.122C>A
c.3496C>A (p.Leu1166Met)
c.3031C>A (p.Leu1011Met)
18g.23535502A=CA2290163858NPC1c.3444T= (p.Ser1148=)
c.199T=
n.199T=
c.2522T=
c.121T=
c.3495T= (p.Ser1165=)
c.3030T= (p.Ser1010=)
18g.23535502A>CCA8912776NPC1c.3444T>G (p.Ser1148Arg)
c.199T>G
n.199T>G
c.2522T>G
c.121T>G
c.3495T>G (p.Ser1165Arg)
c.3030T>G (p.Ser1010Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23535502A>GCA503521666NPC1c.3444T>C (p.Ser1148=)
c.199T>C
n.199T>C
c.2522T>C
c.121T>C
c.3495T>C (p.Ser1165=)
c.3030T>C (p.Ser1010=)
18g.23535502A>TCA401791183NPC1c.3444T>A (p.Ser1148Arg)
c.199T>A
n.199T>A
c.2522T>A
c.121T>A
c.3495T>A (p.Ser1165Arg)
c.3030T>A (p.Ser1010Arg)
18g.23535503C>ACA401791184NPC1c.3443G>T (p.Ser1148Ile)
c.198G>T
n.198G>T
c.2521G>T
c.120G>T
c.3494G>T (p.Ser1165Ile)
c.3029G>T (p.Ser1010Ile)
18g.23535503C>GCA401791185NPC1c.3443G>C (p.Ser1148Thr)
c.198G>C
n.198G>C
c.2521G>C
c.120G>C
c.3494G>C (p.Ser1165Thr)
c.3029G>C (p.Ser1010Thr)
18g.23535503C>TCA401791186NPC1c.3443G>A (p.Ser1148Asn)
c.198G>A
n.198G>A
c.2521G>A
c.120G>A
c.3494G>A (p.Ser1165Asn)
c.3029G>A (p.Ser1010Asn)
18g.23535504T>ACA401791189NPC1c.3442A>T (p.Ser1148Cys)
c.197A>T
n.197A>T
c.2520A>T
c.119A>T
c.3493A>T (p.Ser1165Cys)
c.3028A>T (p.Ser1010Cys)
18g.23535504T>CCA401791187NPC1c.3442A>G (p.Ser1148Gly)
c.197A>G
n.197A>G
c.2520A>G
c.119A>G
c.3493A>G (p.Ser1165Gly)
c.3028A>G (p.Ser1010Gly)
18g.23535504T>GCA401791188NPC1c.3442A>C (p.Ser1148Arg)
c.197A>C
n.197A>C
c.2520A>C
c.119A>C
c.3493A>C (p.Ser1165Arg)
c.3028A>C (p.Ser1010Arg)
18g.23535505G>ACA8912777NPC1c.3441C>T (p.Ile1147=)
c.196C>T
n.196C>T
c.2519C>T
c.118C>T
c.3492C>T (p.Ile1164=)
c.3027C>T (p.Ile1009=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23535505G>CCA401791190NPC1c.3441C>G (p.Ile1147Met)
c.196C>G
n.196C>G
c.2519C>G
c.118C>G
c.3492C>G (p.Ile1164Met)
c.3027C>G (p.Ile1009Met)
18g.23535505G=CA2290163859NPC1c.3441C= (p.Ile1147=)
c.196C=
n.196C=
c.2519C=
c.118C=
c.3492C= (p.Ile1164=)
c.3027C= (p.Ile1009=)
18g.23535505G>TCA503521667NPC1c.3441C>A (p.Ile1147=)
c.196C>A
n.196C>A
c.2519C>A
c.118C>A
c.3492C>A (p.Ile1164=)
c.3027C>A (p.Ile1009=)
18g.23535506A=CA2290163860NPC1c.3440T= (p.Ile1147=)
c.195T=
n.195T=
c.2518T=
c.117T=
c.3491T= (p.Ile1164=)
c.3026T= (p.Ile1009=)
18g.23535506A>CCA401791191NPC1c.3440T>G (p.Ile1147Ser)
c.195T>G
n.195T>G
c.2518T>G
c.117T>G
c.3491T>G (p.Ile1164Ser)
c.3026T>G (p.Ile1009Ser)
18g.23535506A>GCA401791192NPC1c.3440T>C (p.Ile1147Thr)
c.195T>C
n.195T>C
c.2518T>C
c.117T>C
c.3491T>C (p.Ile1164Thr)
c.3026T>C (p.Ile1009Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23535506A>TCA401791193NPC1c.3440T>A (p.Ile1147Asn)
c.195T>A
n.195T>A
c.2518T>A
c.117T>A
c.3491T>A (p.Ile1164Asn)
c.3026T>A (p.Ile1009Asn)
18g.23535507T>ACA401791194NPC1c.3439A>T (p.Ile1147Phe)
c.194A>T
n.194A>T
c.2517A>T
c.116A>T
c.3490A>T (p.Ile1164Phe)
c.3025A>T (p.Ile1009Phe)
18g.23535507T>CCA401791195NPC1c.3439A>G (p.Ile1147Val)
c.194A>G
n.194A>G
c.2517A>G
c.116A>G
c.3490A>G (p.Ile1164Val)
c.3025A>G (p.Ile1009Val)
18g.23535507T>GCA401791196NPC1c.3439A>C (p.Ile1147Leu)
c.194A>C
n.194A>C
c.2517A>C
c.116A>C
c.3490A>C (p.Ile1164Leu)
c.3025A>C (p.Ile1009Leu)
18g.23535508G>ACA8912778NPC1c.3438C>T (p.Gly1146=)
c.193C>T
n.193C>T
c.2516C>T
c.115C>T
c.3489C>T (p.Gly1163=)
c.3024C>T (p.Gly1008=)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23535508G>CCA503521668NPC1c.3438C>G (p.Gly1146=)
c.193C>G
n.193C>G
c.2516C>G
c.115C>G
c.3489C>G (p.Gly1163=)
c.3024C>G (p.Gly1008=)
18g.23535508G=CA2290163861NPC1c.3438C= (p.Gly1146=)
c.193C=
n.193C=
c.2516C=
c.115C=
c.3489C= (p.Gly1163=)
c.3024C= (p.Gly1008=)
18g.23535508G>TCA503521669NPC1c.3438C>A (p.Gly1146=)
c.193C>A
n.193C>A
c.2516C>A
c.115C>A
c.3489C>A (p.Gly1163=)
c.3024C>A (p.Gly1008=)
18g.23535509C>ACA401791197NPC1c.3437G>T (p.Gly1146Val)
c.192G>T
n.192G>T
c.2515G>T
c.114G>T
c.3488G>T (p.Gly1163Val)
c.3023G>T (p.Gly1008Val)
18g.23535509C=CA2290163862NPC1c.3437G= (p.Gly1146=)
c.192G=
n.192G=
c.2515G=
c.114G=
c.3488G= (p.Gly1163=)
c.3023G= (p.Gly1008=)
18g.23535509C>GCA401791198NPC1c.3437G>C (p.Gly1146Ala)
c.192G>C
n.192G>C
c.2515G>C
c.114G>C
c.3488G>C (p.Gly1163Ala)
c.3023G>C (p.Gly1008Ala)
18g.23535509C>TCA401791199NPC1c.3437G>A (p.Gly1146Asp)
c.192G>A
n.192G>A
c.2515G>A
c.114G>A
c.3488G>A (p.Gly1163Asp)
c.3023G>A (p.Gly1008Asp)
 dbSNP
18g.23535510C>ACA401791200NPC1c.3436G>T (p.Gly1146Cys)
c.191G>T
n.191G>T
c.2514G>T
c.113G>T
c.3487G>T (p.Gly1163Cys)
c.3022G>T (p.Gly1008Cys)
18g.23535510C=CA2290163863NPC1c.3436G= (p.Gly1146=)
c.191G=
n.191G=
c.2514G=
c.113G=
c.3487G= (p.Gly1163=)
c.3022G= (p.Gly1008=)
18g.23535510C>GCA401791201NPC1c.3436G>C (p.Gly1146Arg)
c.191G>C
n.191G>C
c.2514G>C
c.113G>C
c.3487G>C (p.Gly1163Arg)
c.3022G>C (p.Gly1008Arg)
 gnomAD v4
18g.23535510C>TCA8912779NPC1c.3436G>A (p.Gly1146Ser)
c.191G>A
n.191G>A
c.2514G>A
c.113G>A
c.3487G>A (p.Gly1163Ser)
c.3022G>A (p.Gly1008Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23535511C>ACA401791202NPC1c.3435G>T (p.Trp1145Cys)
c.190G>T
n.190G>T
c.2513G>T
c.112G>T
c.3486G>T (p.Trp1162Cys)
c.3021G>T (p.Trp1007Cys)
18g.23535511C=CA2290163864NPC1c.3435G= (p.Trp1145=)
c.190G=
n.190G=
c.2513G=
c.112G=
c.3486G= (p.Trp1162=)
c.3021G= (p.Trp1007=)
18g.23535511C>GCA401791203NPC1c.3435G>C (p.Trp1145Cys)
c.190G>C
n.190G>C
c.2513G>C
c.112G>C
c.3486G>C (p.Trp1162Cys)
c.3021G>C (p.Trp1007Cys)
 ClinVar gnomAD v4
18g.23535511C>TCA8912780NPC1c.3435G>A (p.Trp1145Ter)
c.190G>A
n.190G>A
c.2513G>A
c.112G>A
c.3486G>A (p.Trp1162Ter)
c.3021G>A (p.Trp1007Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23535512C>ACA401791204NPC1c.3434G>T (p.Trp1145Leu)
c.189G>T
n.189G>T
c.2512G>T
c.111G>T
c.3485G>T (p.Trp1162Leu)
c.3020G>T (p.Trp1007Leu)
18g.23535512C>GCA401791205NPC1c.3434G>C (p.Trp1145Ser)
c.189G>C
n.189G>C
c.2512G>C
c.111G>C
c.3485G>C (p.Trp1162Ser)
c.3020G>C (p.Trp1007Ser)
18g.23535512C>TCA401791206NPC1c.3434G>A (p.Trp1145Ter)
c.189G>A
n.189G>A
c.2512G>A
c.111G>A
c.3485G>A (p.Trp1162Ter)
c.3020G>A (p.Trp1007Ter)
18g.23535513A>CCA401791209NPC1c.3433T>G (p.Trp1145Gly)
c.188T>G
n.188T>G
c.2511T>G
c.110T>G
c.3484T>G (p.Trp1162Gly)
c.3019T>G (p.Trp1007Gly)
18g.23535513A>GCA401791208NPC1c.3433T>C (p.Trp1145Arg)
c.188T>C
n.188T>C
c.2511T>C
c.110T>C
c.3484T>C (p.Trp1162Arg)
c.3019T>C (p.Trp1007Arg)
 ClinVar dbSNP
18g.23535513A>TCA401791207NPC1c.3433T>A (p.Trp1145Arg)
c.188T>A
n.188T>A
c.2511T>A
c.110T>A
c.3484T>A (p.Trp1162Arg)
c.3019T>A (p.Trp1007Arg)
18g.23535514G>ACA503521670NPC1c.3432C>T (p.Leu1144=)
c.187C>T
n.187C>T
c.2510C>T
c.109C>T
c.3483C>T (p.Leu1161=)
c.3018C>T (p.Leu1006=)
 ClinVar dbSNP
18g.23535514G>CCA8912781NPC1c.3432C>G (p.Leu1144=)
c.187C>G
n.187C>G
c.2510C>G
c.109C>G
c.3483C>G (p.Leu1161=)
c.3018C>G (p.Leu1006=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23535514G=CA2290163865NPC1c.3432C= (p.Leu1144=)
c.187C=
n.187C=
c.2510C=
c.109C=
c.3483C= (p.Leu1161=)
c.3018C= (p.Leu1006=)
18g.23535514G>TCA503521671NPC1c.3432C>A (p.Leu1144=)
c.187C>A
n.187C>A
c.2510C>A
c.109C>A
c.3483C>A (p.Leu1161=)
c.3018C>A (p.Leu1006=)
18g.23535515A>CCA401791210NPC1c.3431T>G (p.Leu1144Arg)
c.186T>G
n.186T>G
c.2509T>G
c.108T>G
c.3482T>G (p.Leu1161Arg)
c.3017T>G (p.Leu1006Arg)
18g.23535515A>GCA401791211NPC1c.3431T>C (p.Leu1144Pro)
c.186T>C
n.186T>C
c.2509T>C
c.108T>C
c.3482T>C (p.Leu1161Pro)
c.3017T>C (p.Leu1006Pro)
18g.23535515A>TCA401791212NPC1c.3431T>A (p.Leu1144His)
c.186T>A
n.186T>A
c.2509T>A
c.108T>A
c.3482T>A (p.Leu1161His)
c.3017T>A (p.Leu1006His)
18g.23535516G>ACA401791213NPC1c.3430C>T (p.Leu1144Phe)
c.185C>T
n.185C>T
c.2508C>T
c.107C>T
c.3481C>T (p.Leu1161Phe)
c.3016C>T (p.Leu1006Phe)
 dbSNP
18g.23535516G>CCA401791214NPC1c.3430C>G (p.Leu1144Val)
c.185C>G
n.185C>G
c.2508C>G
c.107C>G
c.3481C>G (p.Leu1161Val)
c.3016C>G (p.Leu1006Val)
18g.23535516G=CA2290163866NPC1c.3430C= (p.Leu1144=)
c.185C=
n.185C=
c.2508C=
c.107C=
c.3481C= (p.Leu1161=)
c.3016C= (p.Leu1006=)
18g.23535516G>TCA401791215NPC1c.3430C>A (p.Leu1144Ile)
c.185C>A
n.185C>A
c.2508C>A
c.107C>A
c.3481C>A (p.Leu1161Ile)
c.3016C>A (p.Leu1006Ile)
18g.23535517C>ACA401791216NPC1c.3429G>T (p.Trp1143Cys)
c.184G>T
n.184G>T
c.2507G>T
c.106G>T
c.3480G>T (p.Trp1160Cys)
c.3015G>T (p.Trp1005Cys)
18g.23535517C>GCA401791218NPC1c.3429G>C (p.Trp1143Cys)
c.184G>C
n.184G>C
c.2507G>C
c.106G>C
c.3480G>C (p.Trp1160Cys)
c.3015G>C (p.Trp1005Cys)
18g.23535517C>TCA401791217NPC1c.3429G>A (p.Trp1143Ter)
c.184G>A
n.184G>A
c.2507G>A
c.106G>A
c.3480G>A (p.Trp1160Ter)
c.3015G>A (p.Trp1005Ter)
18g.23535518C>ACA401791219NPC1c.3428G>T (p.Trp1143Leu)
c.183G>T
n.183G>T
c.2506G>T
c.105G>T
c.3479G>T (p.Trp1160Leu)
c.3014G>T (p.Trp1005Leu)
18g.23535518C>GCA401791220NPC1c.3428G>C (p.Trp1143Ser)
c.183G>C
n.183G>C
c.2506G>C
c.105G>C
c.3479G>C (p.Trp1160Ser)
c.3014G>C (p.Trp1005Ser)
18g.23535518C>TCA401791221NPC1c.3428G>A (p.Trp1143Ter)
c.183G>A
n.183G>A
c.2506G>A
c.105G>A
c.3479G>A (p.Trp1160Ter)
c.3014G>A (p.Trp1005Ter)
18g.23535519A>CCA401791222NPC1c.3427T>G (p.Trp1143Gly)
c.182T>G
n.182T>G
c.2505T>G
c.104T>G
c.3478T>G (p.Trp1160Gly)
c.3013T>G (p.Trp1005Gly)
18g.23535519A>GCA401791223NPC1c.3427T>C (p.Trp1143Arg)
c.182T>C
n.182T>C
c.2505T>C
c.104T>C
c.3478T>C (p.Trp1160Arg)
c.3013T>C (p.Trp1005Arg)
18g.23535519A>TCA401791224NPC1c.3427T>A (p.Trp1143Arg)
c.182T>A
n.182T>A
c.2505T>A
c.104T>A
c.3478T>A (p.Trp1160Arg)
c.3013T>A (p.Trp1005Arg)
18g.23535520C>ACA401791225NPC1c.3426G>T (p.Met1142Ile)
c.181G>T
n.181G>T
c.2504G>T
c.103G>T
c.3477G>T (p.Met1159Ile)
c.3012G>T (p.Met1004Ile)
18g.23535520C=CA2290163867NPC1c.3426G= (p.Met1142=)
c.181G=
n.181G=
c.2504G=
c.103G=
c.3477G= (p.Met1159=)
c.3012G= (p.Met1004=)
18g.23535520C>GCA401791226NPC1c.3426G>C (p.Met1142Ile)
c.181G>C
n.181G>C
c.2504G>C
c.103G>C
c.3477G>C (p.Met1159Ile)
c.3012G>C (p.Met1004Ile)
18g.23535520C>TCA401791227NPC1c.3426G>A (p.Met1142Ile)
c.181G>A
n.181G>A
c.2504G>A
c.103G>A
c.3477G>A (p.Met1159Ile)
c.3012G>A (p.Met1004Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.23535521A=CA2290163868NPC1c.3425T= (p.Met1142=)
c.180T=
n.180T=
c.2503T=
c.102T=
c.3476T= (p.Met1159=)
c.3011T= (p.Met1004=)
18g.23535521A>CCA401791228NPC1c.3425T>G (p.Met1142Arg)
c.180T>G
n.180T>G
c.2503T>G
c.102T>G
c.3476T>G (p.Met1159Arg)
c.3011T>G (p.Met1004Arg)
18g.23535521A>GCA8912782NPC1c.3425T>C (p.Met1142Thr)
c.180T>C
n.180T>C
c.2503T>C
c.102T>C
c.3476T>C (p.Met1159Thr)
c.3011T>C (p.Met1004Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.23535521A>TCA401791229NPC1c.3425T>A (p.Met1142Lys)
c.180T>A
n.180T>A
c.2503T>A
c.102T>A
c.3476T>A (p.Met1159Lys)
c.3011T>A (p.Met1004Lys)
18g.23535522T>ACA401791230NPC1c.3424A>T (p.Met1142Leu)
c.179A>T
n.179A>T
c.2502A>T
c.101A>T
c.3475A>T (p.Met1159Leu)
c.3010A>T (p.Met1004Leu)
 gnomAD v4
18g.23535522T>CCA401791232NPC1c.3424A>G (p.Met1142Val)
c.179A>G
n.179A>G
c.2502A>G
c.101A>G
c.3475A>G (p.Met1159Val)
c.3010A>G (p.Met1004Val)
18g.23535522T>GCA401791231NPC1c.3424A>C (p.Met1142Leu)
c.179A>C
n.179A>C
c.2502A>C
c.101A>C
c.3475A>C (p.Met1159Leu)
c.3010A>C (p.Met1004Leu)
18g.23535522_23535529delinsTAACTCCACA2290163869NPC1c.3417_3424delinsTGGAGTTA (p.Phe1139=)
c.172_179delinsTGGAGTTA
n.172_179delinsTGGAGTTA
c.2495_2502delinsTGGAGTTA
c.94_101delinsTGGAGTTA
c.3468_3475delinsTGGAGTTA (p.Phe1156=)
c.3003_3010delinsTGGAGTTA (p.Phe1001=)
18g.23535523A>CCA503521672NPC1c.3423T>G (p.Val1141=)
c.178T>G
n.178T>G
c.2501T>G
c.100T>G
c.3474T>G (p.Val1158=)
c.3009T>G (p.Val1003=)
 ClinVar dbSNP
18g.23535523A>GCA503521673NPC1c.3423T>C (p.Val1141=)
c.178T>C
n.178T>C
c.2501T>C
c.100T>C
c.3474T>C (p.Val1158=)
c.3009T>C (p.Val1003=)
 gnomAD v4
18g.23535523A>TCA503521674NPC1c.3423T>A (p.Val1141=)
c.178T>A
n.178T>A
c.2501T>A
c.100T>A
c.3474T>A (p.Val1158=)
c.3009T>A (p.Val1003=)
18g.23535526_23535532delCA16041909NPC1c.3417_3423del (p.Phe1139LeufsTer9)
c.172_178del
n.172_178del
c.2495_2501del
c.94_100del
c.3468_3474del (p.Phe1156LeufsTer9)
c.3003_3009del (p.Phe1001LeufsTer9)
 ClinVar dbSNP
18g.23535524A=CA2290163870NPC1c.3422T= (p.Val1141=)
c.177T=
n.177T=
c.2500T=
c.99T=
c.3473T= (p.Val1158=)
c.3008T= (p.Val1003=)
18g.23535524A>CCA297079167NPC1c.3422T>G (p.Val1141Gly)
c.177T>G
n.177T>G
c.2500T>G
c.99T>G
c.3473T>G (p.Val1158Gly)
c.3008T>G (p.Val1003Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23535524A>GCA401791233NPC1c.3422T>C (p.Val1141Ala)
c.177T>C
n.177T>C
c.2500T>C
c.99T>C
c.3473T>C (p.Val1158Ala)
c.3008T>C (p.Val1003Ala)
 gnomAD v4
18g.23535524A>TCA401791234NPC1c.3422T>A (p.Val1141Asp)
c.177T>A
n.177T>A
c.2500T>A
c.99T>A
c.3473T>A (p.Val1158Asp)
c.3008T>A (p.Val1003Asp)
18g.23535525C>ACA401791235NPC1c.3421G>T (p.Val1141Phe)
c.176G>T
n.176G>T
c.2499G>T
c.98G>T
c.3472G>T (p.Val1158Phe)
c.3007G>T (p.Val1003Phe)
18g.23535525C>GCA401791236NPC1c.3421G>C (p.Val1141Leu)
c.176G>C
n.176G>C
c.2499G>C
c.98G>C
c.3472G>C (p.Val1158Leu)
c.3007G>C (p.Val1003Leu)
18g.23535525C>TCA401791237NPC1c.3421G>A (p.Val1141Ile)
c.176G>A
n.176G>A
c.2499G>A
c.98G>A
c.3472G>A (p.Val1158Ile)
c.3007G>A (p.Val1003Ile)
18g.23535526T>ACA503521675NPC1c.3420A>T (p.Gly1140=)
c.175A>T
n.175A>T
c.2498A>T
c.97A>T
c.3471A>T (p.Gly1157=)
c.3006A>T (p.Gly1002=)
18g.23535526T>CCA503521676NPC1c.3420A>G (p.Gly1140=)
c.175A>G
n.175A>G
c.2498A>G
c.97A>G
c.3471A>G (p.Gly1157=)
c.3006A>G (p.Gly1002=)
 ClinVar dbSNP gnomAD v4
18g.23535526T>GCA503521677NPC1c.3420A>C (p.Gly1140=)
c.175A>C
n.175A>C
c.2498A>C
c.97A>C
c.3471A>C (p.Gly1157=)
c.3006A>C (p.Gly1002=)

Number of alleles fetched