Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.23532378_23536675del | CA913190465 | NPC1 | c.3243_3755-94del c.2321_2833-94del c.3294_3805+977del c.3294_3806-94del c.3243_3754+977del c.2829_3340+977del | ClinVar |
18 | g.23535438del | CA2576470820 | NPC1 | c.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) | |
18 | g.23535438A= | CA2290163819 | NPC1 | c.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=) | |
18 | g.23535438A>G | CA8912757 | NPC1 | c.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 |
18 | g.23535439G>A | CA2641278358 | NPC1 | c.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 |
18 | g.23535439G>T | CA2576470821 | NPC1 | c.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 |
18 | g.23535440G>A | CA2641278359 | NPC1 | c.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 |
18 | g.23535440G>T | CA2641278360 | NPC1 | c.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 |
18 | g.23535441G>A | CA628677525 | NPC1 | c.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 |
18 | g.23535441G= | CA2290163820 | NPC1 | c.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=) | |
18 | g.23535441G>T | CA2576470822 | NPC1 | c.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 |
18 | g.23535443C>A | CA8912758 | NPC1 | c.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 |
18 | g.23535443C= | CA2290163822 | NPC1 | c.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=) | |
18 | g.23535443C>G | CA628677526 | NPC1 | c.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 |
18 | g.23535443C>T | CA8912759 | NPC1 | c.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 |
18 | g.23535443_23535449delinsCAAACTG | CA2290163821 | NPC1 | c.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) | |
18 | g.23535445_23535450del | CA628677527 | NPC1 | c.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 |
18 | g.23535445A>C | CA2576470823 | NPC1 | c.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 |
18 | g.23535445A>G | CA2641278362 | NPC1 | c.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 |
18 | g.23535446A= | CA2290163823 | NPC1 | c.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=) | |
18 | g.23535446A>G | CA8912760 | NPC1 | c.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 |
18 | g.23535447C>A | CA2576470824 | NPC1 | c.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 |
18 | g.23535447C= | CA2290163825 | NPC1 | c.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=) | |
18 | g.23535447C>T | CA628978695 | NPC1 | c.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 |
18 | g.23535447_23535449delinsCTG | CA2290163824 | NPC1 | c.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) | |
18 | g.23535448T>A | CA8912762 | NPC1 | c.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 |
18 | g.23535448T>C | CA628978697 | NPC1 | c.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 |
18 | g.23535448T>G | CA2290163827 | NPC1 | c.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 |
18 | g.23535448T= | CA2290163826 | NPC1 | c.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=) | |
18 | g.23535448_23535449del | CA8912761 | NPC1 | c.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 |
18 | g.23535449G>A | CA2580095535 | NPC1 | c.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 |
18 | g.23535449G>T | CA2573155190 | NPC1 | c.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 |
18 | g.23535450A= | CA2290163828 | NPC1 | c.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=) | |
18 | g.23535450A>G | CA8912763 | NPC1 | c.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 |
18 | g.23535451G>A | CA628978699 | NPC1 | c.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 |
18 | g.23535451G= | CA2290163829 | NPC1 | c.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=) | |
18 | g.23535451G>T | CA2641278367 | NPC1 | c.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 |
18 | g.23535452A= | CA2290163830 | NPC1 | c.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=) | |
18 | g.23535452A>G | CA628978700 | NPC1 | c.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 |
18 | g.23535453C>A | CA2641278368 | NPC1 | c.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 |
18 | g.23535453C= | CA2290163831 | NPC1 | c.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=) | |
18 | g.23535453C>G | CA2576470826 | NPC1 | c.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) | |
18 | g.23535453C>T | CA8912764 | NPC1 | c.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 |
18 | g.23535453_23535455delinsCTG | CA2290163832 | NPC1 | c.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) | |
18 | g.23535454T>A | CA2576470830 | NPC1 | c.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 |
18 | g.23535454T>C | CA8912765 | NPC1 | c.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 |
18 | g.23535454T= | CA2290163834 | NPC1 | c.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=) | |
18 | g.23535455_23535456del | CA2290163833 | NPC1 | c.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 |
18 | g.23535456_23535459del | CA2641278369 | NPC1 | c.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 |
18 | g.23535455G>A | CA8912766 | NPC1 | c.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 |
18 | g.23535455G= | CA2290163835 | NPC1 | c.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=) | |
18 | g.23535455G>T | CA2641278370 | NPC1 | c.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 |
18 | g.23535456T>A | CA8912767 | NPC1 | c.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 |
18 | g.23535456T>C | CA2576470835 | NPC1 | c.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) | |
18 | g.23535456T>G | CA2734226279 | NPC1 | c.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 |
18 | g.23535456T= | CA2290163836 | NPC1 | c.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=) | |
18 | g.23535457A>C | CA2739268567 | NPC1 | c.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 |
18 | g.23535457A>G | CA2740093977 | NPC1 | c.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 |
18 | g.23535459G>A | CA2290163837 | NPC1 | c.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 |
18 | g.23535459G>C | CA2576470838 | NPC1 | c.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 |
18 | g.23535459G= | CA2290163838 | NPC1 | c.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=) | |
18 | g.23535459G>T | CA2641278371 | NPC1 | c.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 |
18 | g.23535460A>T | CA2641278372 | NPC1 | c.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 |
18 | g.23535461G>A | CA2573155191 | NPC1 | c.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 |
18 | g.23535461G>T | CA2641278374 | NPC1 | c.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 |
18 | g.23535462G>A | CA628978704 | NPC1 | c.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 |
18 | g.23535462G= | CA2290163839 | NPC1 | c.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=) | |
18 | g.23535462G>T | CA2641278376 | NPC1 | c.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 |
18 | g.23535463A>T | CA2641278378 | NPC1 | c.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 |
18 | g.23535465T>C | CA8912768 | NPC1 | c.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 |
18 | g.23535465T= | CA2290163840 | NPC1 | c.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=) | |
18 | g.23535466C>G | CA2641278380 | NPC1 | c.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 |
18 | g.23535467A= | CA2290163841 | NPC1 | c.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=) | |
18 | g.23535467A>C | CA401791111 | NPC1 | c.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) | |
18 | g.23535467A>G | CA8912769 | NPC1 | c.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 |
18 | g.23535467A>T | CA401791112 | NPC1 | c.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) | |
18 | g.23535468C>A | CA401791113 | NPC1 | c.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 |
18 | g.23535468C= | CA2290163842 | NPC1 | c.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=) | |
18 | g.23535468C>G | CA401791114 | NPC1 | c.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) | |
18 | g.23535468C>T | CA401791115 | NPC1 | c.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 |
18 | g.23535469C>A | CA401791118 | NPC1 | c.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) | |
18 | g.23535469C>G | CA401791116 | NPC1 | c.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) | |
18 | g.23535469C>T | CA401791117 | NPC1 | c.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 |
18 | g.23535470A>C | CA401791119 | NPC1 | c.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) | |
18 | g.23535470A>G | CA401791120 | NPC1 | c.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 |
18 | g.23535470A>T | CA401791121 | NPC1 | c.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) | |
18 | g.23535471T>A | CA401791122 | NPC1 | c.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) | |
18 | g.23535471T>C | CA401791123 | NPC1 | c.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) | |
18 | g.23535471T>G | CA401791124 | NPC1 | c.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) | |
18 | g.23535472C>A | CA503521642 | NPC1 | c.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=) | |
18 | g.23535472C>G | CA503521643 | NPC1 | c.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=) | |
18 | g.23535472C>T | CA503521644 | NPC1 | c.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=) | |
18 | g.23535473A>C | CA401791125 | NPC1 | c.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) | |
18 | g.23535473A>G | CA401791126 | NPC1 | c.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) | |
18 | g.23535473A>T | CA401791127 | NPC1 | c.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) | |
18 | g.23535473_23535476delinsTT | CA2580095537 | NPC1 | c.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 |
18 | g.23535474C>A | CA401791128 | NPC1 | c.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) | |
18 | g.23535474C= | CA2290163843 | NPC1 | c.3472G= (p.Val1158=) c.227G= n.227G= c.2550G= c.149G= c.3523G= (p.Val1175=) c.3058G= (p.Val1020=) | |
18 | g.23535474C>G | CA401791129 | NPC1 | c.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 |
18 | g.23535474C>T | CA401791130 | NPC1 | c.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 |
18 | g.23535474_23535486delinsCCAGGTTGACCAA | CA2290163844 | NPC1 | c.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=) | |
18 | g.23535475C>A | CA503521645 | NPC1 | c.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=) | |
18 | g.23535475C= | CA2290163845 | NPC1 | c.3471G= (p.Leu1157=) c.226G= n.226G= c.2549G= c.148G= c.3522G= (p.Leu1174=) c.3057G= (p.Leu1019=) | |
18 | g.23535475C>G | CA503521646 | NPC1 | c.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 |
18 | g.23535475C>T | CA8912770 | NPC1 | c.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 |
18 | g.23535475_23535486del | CA1139665976 | NPC1 | c.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 |
18 | g.23535476A>C | CA401791133 | NPC1 | c.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) | |
18 | g.23535476A>G | CA401791132 | NPC1 | c.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) | |
18 | g.23535476A>T | CA401791131 | NPC1 | c.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) | |
18 | g.23535477G>A | CA503521647 | NPC1 | c.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 |
18 | g.23535477G>C | CA401791134 | NPC1 | c.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) | |
18 | g.23535477G= | CA2290163846 | NPC1 | c.3469C= (p.Leu1157=) c.224C= n.224C= c.2547C= c.146C= c.3520C= (p.Leu1174=) c.3055C= (p.Leu1019=) | |
18 | g.23535477G>T | CA401791135 | NPC1 | c.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) | |
18 | g.23535478G>A | CA503521648 | NPC1 | c.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 |
18 | g.23535478G>C | CA401791136 | NPC1 | c.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) | |
18 | g.23535478G>T | CA401791137 | NPC1 | c.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 |
18 | g.23535479T>A | CA401791138 | NPC1 | c.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 |
18 | g.23535479T>C | CA252497 | NPC1 | c.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 |
18 | g.23535479T>G | CA401791139 | NPC1 | c.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 |
18 | g.23535479T= | CA2290163847 | NPC1 | c.3467A= (p.Asn1156=) c.222A= n.222A= c.2545A= c.144A= c.3518A= (p.Asn1173=) c.3053A= (p.Asn1018=) | |
18 | g.23535480T>A | CA401791140 | NPC1 | c.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) | |
18 | g.23535480T>C | CA8912771 | NPC1 | c.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 |
18 | g.23535480T>G | CA401791141 | NPC1 | c.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) | |
18 | g.23535480T= | CA2290163848 | NPC1 | c.3466A= (p.Asn1156=) c.221A= n.221A= c.2544A= c.143A= c.3517A= (p.Asn1173=) c.3052A= (p.Asn1018=) | |
18 | g.23535481G>A | CA503521649 | NPC1 | c.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 |
18 | g.23535481G>C | CA503521650 | NPC1 | c.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=) | |
18 | g.23535481G>T | CA503521651 | NPC1 | c.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=) | |
18 | g.23535482A>C | CA401791142 | NPC1 | c.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) | |
18 | g.23535482A>G | CA401791143 | NPC1 | c.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) | |
18 | g.23535482A>T | CA401791144 | NPC1 | c.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) | |
18 | g.23535483C>A | CA401791146 | NPC1 | c.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) | |
18 | g.23535483C= | CA2290163849 | NPC1 | c.3463G= (p.Val1155=) c.218G= n.218G= c.2541G= c.140G= c.3514G= (p.Val1172=) c.3049G= (p.Val1017=) | |
18 | g.23535483C>G | CA401791145 | NPC1 | c.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) | |
18 | g.23535483C>T | CA8912772 | NPC1 | c.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 |
18 | g.23535484C>A | CA401791147 | NPC1 | c.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 |
18 | g.23535484C>G | CA401791148 | NPC1 | c.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) | |
18 | g.23535484C>T | CA503521652 | NPC1 | c.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=) | |
18 | g.23535485A= | CA2290163850 | NPC1 | c.3461T= (p.Leu1154=) c.216T= n.216T= c.2539T= c.138T= c.3512T= (p.Leu1171=) c.3047T= (p.Leu1016=) | |
18 | g.23535485A>C | CA401791149 | NPC1 | c.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) | |
18 | g.23535485A>G | CA401791150 | NPC1 | c.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) | |
18 | g.23535485A>T | CA401791151 | NPC1 | c.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 |
18 | g.23535486A= | CA2290163851 | NPC1 | c.3460T= (p.Leu1154=) c.215T= n.215T= c.2538T= c.137T= c.3511T= (p.Leu1171=) c.3046T= (p.Leu1016=) | |
18 | g.23535486A>C | CA401791152 | NPC1 | c.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) | |
18 | g.23535486A>G | CA503521653 | NPC1 | c.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 |
18 | g.23535486A>T | CA401791153 | NPC1 | c.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) | |
18 | g.23535487G>A | CA503521654 | NPC1 | c.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=) | |
18 | g.23535487G>C | CA503521655 | NPC1 | c.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=) | |
18 | g.23535487G= | CA2290163852 | NPC1 | c.3459C= (p.Ser1153=) c.214C= n.214C= c.2537C= c.136C= c.3510C= (p.Ser1170=) c.3045C= (p.Ser1015=) | |
18 | g.23535487G>T | CA503521656 | NPC1 | c.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=) | |
18 | g.23535488G>A | CA401791154 | NPC1 | c.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) | |
18 | g.23535488G>C | CA401791155 | NPC1 | c.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) | |
18 | g.23535488G>T | CA401791156 | NPC1 | c.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) | |
18 | g.23535488_23535489dup | CA628978705 | NPC1 | c.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 |
18 | g.23535489A>C | CA401791157 | NPC1 | c.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) | |
18 | g.23535489A>G | CA401791158 | NPC1 | c.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) | |
18 | g.23535489A>T | CA401791159 | NPC1 | c.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) | |
18 | g.23535490T>A | CA503521657 | NPC1 | c.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=) | |
18 | g.23535490T>C | CA503521659 | NPC1 | c.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 |
18 | g.23535490T>G | CA503521658 | NPC1 | c.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=) | |
18 | g.23535490T= | CA2290163853 | NPC1 | c.3456A= (p.Val1152=) c.211A= n.211A= c.2534A= c.133A= c.3507A= (p.Val1169=) c.3042A= (p.Val1014=) | |
18 | g.23535491A>C | CA401791162 | NPC1 | c.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) | |
18 | g.23535491A>G | CA401791161 | NPC1 | c.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 |
18 | g.23535491A>T | CA401791160 | NPC1 | c.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) | |
18 | g.23535492C>A | CA401791163 | NPC1 | c.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) | |
18 | g.23535492C= | CA2290163854 | NPC1 | c.3454G= (p.Val1152=) c.209G= n.209G= c.2532G= c.131G= c.3505G= (p.Val1169=) c.3040G= (p.Val1014=) | |
18 | g.23535492C>G | CA401791164 | NPC1 | c.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) | |
18 | g.23535492C>T | CA401791165 | NPC1 | c.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 |
18 | g.23535493A>C | CA503521660 | NPC1 | c.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=) | |
18 | g.23535493A>G | CA503521661 | NPC1 | c.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 |
18 | g.23535493A>T | CA503521662 | NPC1 | c.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 |
18 | g.23535494G>A | CA401791166 | NPC1 | c.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) | |
18 | g.23535494G>C | CA401791167 | NPC1 | c.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) | |
18 | g.23535494G>T | CA401791168 | NPC1 | c.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) | |
18 | g.23535495C>A | CA401791169 | NPC1 | c.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 |
18 | g.23535495C= | CA2290163855 | NPC1 | c.3451G= (p.Ala1151=) c.206G= n.206G= c.2529G= c.128G= c.3502G= (p.Ala1168=) c.3037G= (p.Ala1013=) | |
18 | g.23535495C>G | CA401791170 | NPC1 | c.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) | |
18 | g.23535495C>T | CA8912773 | NPC1 | c.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 |
18 | g.23535496G>A | CA8912774 | NPC1 | c.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 |
18 | g.23535496G>C | CA401791171 | NPC1 | c.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) | |
18 | g.23535496G= | CA2290163856 | NPC1 | c.3450C= (p.Asn1150=) c.205C= n.205C= c.2528C= c.127C= c.3501C= (p.Asn1167=) c.3036C= (p.Asn1012=) | |
18 | g.23535496G>T | CA297079142 | NPC1 | c.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 |
18 | g.23535497T>A | CA401791174 | NPC1 | c.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) | |
18 | g.23535497T>C | CA401791173 | NPC1 | c.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) | |
18 | g.23535497T>G | CA401791172 | NPC1 | c.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) | |
18 | g.23535498T>A | CA401791177 | NPC1 | c.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) | |
18 | g.23535498T>C | CA401791175 | NPC1 | c.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) | |
18 | g.23535498T>G | CA401791176 | NPC1 | c.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) | |
18 | g.23535499C>A | CA503521663 | NPC1 | c.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=) | |
18 | g.23535499C= | CA2290163857 | NPC1 | c.3447G= (p.Leu1149=) c.202G= n.202G= c.2525G= c.124G= c.3498G= (p.Leu1166=) c.3033G= (p.Leu1011=) | |
18 | g.23535499C>G | CA503521664 | NPC1 | c.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=) | |
18 | g.23535499C>T | CA8912775 | NPC1 | c.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 |
18 | g.23535500A>C | CA401791178 | NPC1 | c.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) | |
18 | g.23535500A>G | CA401791179 | NPC1 | c.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) | |
18 | g.23535500A>T | CA401791180 | NPC1 | c.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) | |
18 | g.23535501G>A | CA503521665 | NPC1 | c.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 |
18 | g.23535501G>C | CA401791181 | NPC1 | c.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) | |
18 | g.23535501G>T | CA401791182 | NPC1 | c.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) | |
18 | g.23535502A= | CA2290163858 | NPC1 | c.3444T= (p.Ser1148=) c.199T= n.199T= c.2522T= c.121T= c.3495T= (p.Ser1165=) c.3030T= (p.Ser1010=) | |
18 | g.23535502A>C | CA8912776 | NPC1 | c.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 |
18 | g.23535502A>G | CA503521666 | NPC1 | c.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=) | |
18 | g.23535502A>T | CA401791183 | NPC1 | c.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) | |
18 | g.23535503C>A | CA401791184 | NPC1 | c.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) | |
18 | g.23535503C>G | CA401791185 | NPC1 | c.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) | |
18 | g.23535503C>T | CA401791186 | NPC1 | c.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) | |
18 | g.23535504T>A | CA401791189 | NPC1 | c.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) | |
18 | g.23535504T>C | CA401791187 | NPC1 | c.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) | |
18 | g.23535504T>G | CA401791188 | NPC1 | c.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) | |
18 | g.23535505G>A | CA8912777 | NPC1 | c.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 |
18 | g.23535505G>C | CA401791190 | NPC1 | c.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) | |
18 | g.23535505G= | CA2290163859 | NPC1 | c.3441C= (p.Ile1147=) c.196C= n.196C= c.2519C= c.118C= c.3492C= (p.Ile1164=) c.3027C= (p.Ile1009=) | |
18 | g.23535505G>T | CA503521667 | NPC1 | c.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=) | |
18 | g.23535506A= | CA2290163860 | NPC1 | c.3440T= (p.Ile1147=) c.195T= n.195T= c.2518T= c.117T= c.3491T= (p.Ile1164=) c.3026T= (p.Ile1009=) | |
18 | g.23535506A>C | CA401791191 | NPC1 | c.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) | |
18 | g.23535506A>G | CA401791192 | NPC1 | c.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 |
18 | g.23535506A>T | CA401791193 | NPC1 | c.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) | |
18 | g.23535507T>A | CA401791194 | NPC1 | c.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) | |
18 | g.23535507T>C | CA401791195 | NPC1 | c.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) | |
18 | g.23535507T>G | CA401791196 | NPC1 | c.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) | |
18 | g.23535508G>A | CA8912778 | NPC1 | c.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 |
18 | g.23535508G>C | CA503521668 | NPC1 | c.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=) | |
18 | g.23535508G= | CA2290163861 | NPC1 | c.3438C= (p.Gly1146=) c.193C= n.193C= c.2516C= c.115C= c.3489C= (p.Gly1163=) c.3024C= (p.Gly1008=) | |
18 | g.23535508G>T | CA503521669 | NPC1 | c.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=) | |
18 | g.23535509C>A | CA401791197 | NPC1 | c.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) | |
18 | g.23535509C= | CA2290163862 | NPC1 | c.3437G= (p.Gly1146=) c.192G= n.192G= c.2515G= c.114G= c.3488G= (p.Gly1163=) c.3023G= (p.Gly1008=) | |
18 | g.23535509C>G | CA401791198 | NPC1 | c.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) | |
18 | g.23535509C>T | CA401791199 | NPC1 | c.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 |
18 | g.23535510C>A | CA401791200 | NPC1 | c.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) | |
18 | g.23535510C= | CA2290163863 | NPC1 | c.3436G= (p.Gly1146=) c.191G= n.191G= c.2514G= c.113G= c.3487G= (p.Gly1163=) c.3022G= (p.Gly1008=) | |
18 | g.23535510C>G | CA401791201 | NPC1 | c.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 |
18 | g.23535510C>T | CA8912779 | NPC1 | c.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 |
18 | g.23535511C>A | CA401791202 | NPC1 | c.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) | |
18 | g.23535511C= | CA2290163864 | NPC1 | c.3435G= (p.Trp1145=) c.190G= n.190G= c.2513G= c.112G= c.3486G= (p.Trp1162=) c.3021G= (p.Trp1007=) | |
18 | g.23535511C>G | CA401791203 | NPC1 | c.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 |
18 | g.23535511C>T | CA8912780 | NPC1 | c.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 |
18 | g.23535512C>A | CA401791204 | NPC1 | c.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) | |
18 | g.23535512C>G | CA401791205 | NPC1 | c.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) | |
18 | g.23535512C>T | CA401791206 | NPC1 | c.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) | |
18 | g.23535513A>C | CA401791209 | NPC1 | c.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) | |
18 | g.23535513A>G | CA401791208 | NPC1 | c.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 |
18 | g.23535513A>T | CA401791207 | NPC1 | c.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) | |
18 | g.23535514G>A | CA503521670 | NPC1 | c.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 |
18 | g.23535514G>C | CA8912781 | NPC1 | c.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 |
18 | g.23535514G= | CA2290163865 | NPC1 | c.3432C= (p.Leu1144=) c.187C= n.187C= c.2510C= c.109C= c.3483C= (p.Leu1161=) c.3018C= (p.Leu1006=) | |
18 | g.23535514G>T | CA503521671 | NPC1 | c.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=) | |
18 | g.23535515A>C | CA401791210 | NPC1 | c.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) | |
18 | g.23535515A>G | CA401791211 | NPC1 | c.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) | |
18 | g.23535515A>T | CA401791212 | NPC1 | c.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) | |
18 | g.23535516G>A | CA401791213 | NPC1 | c.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 |
18 | g.23535516G>C | CA401791214 | NPC1 | c.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) | |
18 | g.23535516G= | CA2290163866 | NPC1 | c.3430C= (p.Leu1144=) c.185C= n.185C= c.2508C= c.107C= c.3481C= (p.Leu1161=) c.3016C= (p.Leu1006=) | |
18 | g.23535516G>T | CA401791215 | NPC1 | c.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) | |
18 | g.23535517C>A | CA401791216 | NPC1 | c.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) | |
18 | g.23535517C>G | CA401791218 | NPC1 | c.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) | |
18 | g.23535517C>T | CA401791217 | NPC1 | c.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) | |
18 | g.23535518C>A | CA401791219 | NPC1 | c.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) | |
18 | g.23535518C>G | CA401791220 | NPC1 | c.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) | |
18 | g.23535518C>T | CA401791221 | NPC1 | c.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) | |
18 | g.23535519A>C | CA401791222 | NPC1 | c.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) | |
18 | g.23535519A>G | CA401791223 | NPC1 | c.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) | |
18 | g.23535519A>T | CA401791224 | NPC1 | c.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) | |
18 | g.23535520C>A | CA401791225 | NPC1 | c.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) | |
18 | g.23535520C= | CA2290163867 | NPC1 | c.3426G= (p.Met1142=) c.181G= n.181G= c.2504G= c.103G= c.3477G= (p.Met1159=) c.3012G= (p.Met1004=) | |
18 | g.23535520C>G | CA401791226 | NPC1 | c.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) | |
18 | g.23535520C>T | CA401791227 | NPC1 | c.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 |
18 | g.23535521A= | CA2290163868 | NPC1 | c.3425T= (p.Met1142=) c.180T= n.180T= c.2503T= c.102T= c.3476T= (p.Met1159=) c.3011T= (p.Met1004=) | |
18 | g.23535521A>C | CA401791228 | NPC1 | c.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) | |
18 | g.23535521A>G | CA8912782 | NPC1 | c.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 |
18 | g.23535521A>T | CA401791229 | NPC1 | c.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) | |
18 | g.23535522T>A | CA401791230 | NPC1 | c.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 |
18 | g.23535522T>C | CA401791232 | NPC1 | c.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) | |
18 | g.23535522T>G | CA401791231 | NPC1 | c.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) | |
18 | g.23535522_23535529delinsTAACTCCA | CA2290163869 | NPC1 | c.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=) | |
18 | g.23535523A>C | CA503521672 | NPC1 | c.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 |
18 | g.23535523A>G | CA503521673 | NPC1 | c.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 |
18 | g.23535523A>T | CA503521674 | NPC1 | c.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=) | |
18 | g.23535526_23535532del | CA16041909 | NPC1 | c.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 |
18 | g.23535524A= | CA2290163870 | NPC1 | c.3422T= (p.Val1141=) c.177T= n.177T= c.2500T= c.99T= c.3473T= (p.Val1158=) c.3008T= (p.Val1003=) | |
18 | g.23535524A>C | CA297079167 | NPC1 | c.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 |
18 | g.23535524A>G | CA401791233 | NPC1 | c.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 |
18 | g.23535524A>T | CA401791234 | NPC1 | c.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) | |
18 | g.23535525C>A | CA401791235 | NPC1 | c.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) | |
18 | g.23535525C>G | CA401791236 | NPC1 | c.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) | |
18 | g.23535525C>T | CA401791237 | NPC1 | c.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) | |
18 | g.23535526T>A | CA503521675 | NPC1 | c.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=) | |
18 | g.23535526T>C | CA503521676 | NPC1 | c.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 |
18 | g.23535526T>G | CA503521677 | NPC1 | c.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=) | |
18 | g.23535527C>A | CA401791238 | NPC1 | c.3419G>T (p.Gly1140Val) c.174G>T n.174G>T c.2497G>T c.96G>T c.3470G>T (p.Gly1157Val) c.3005G>T (p.Gly1002Val) | ClinVar dbSNP gnomAD v4 |
18 | g.23535527C= | CA2290163871 | NPC1 | c.3419G= (p.Gly1140=) c.174G= n.174G= c.2497G= c.96G= c.3470G= (p.Gly1157=) c.3005G= (p.Gly1002=) | |
18 | g.23535527C>G | CA401791239 | NPC1 | c.3419G>C (p.Gly1140Ala) c.174G>C n.174G>C c.2497G>C c.96G>C c.3470G>C (p.Gly1157Ala) c.3005G>C (p.Gly1002Ala) | |
18 | g.23535527C>T | CA401791240 | NPC1 | c.3419G>A (p.Gly1140Glu) c.174G>A n.174G>A c.2497G>A c.96G>A c.3470G>A (p.Gly1157Glu) c.3005G>A (p.Gly1002Glu) | |
18 | g.23535528C>A | CA401791241 | NPC1 | c.3418G>T (p.Gly1140Ter) c.173G>T n.173G>T c.2496G>T c.95G>T c.3469G>T (p.Gly1157Ter) c.3004G>T (p.Gly1002Ter) | |
18 | g.23535528C>G | CA401791242 | NPC1 | c.3418G>C (p.Gly1140Arg) c.173G>C n.173G>C c.2496G>C c.95G>C c.3469G>C (p.Gly1157Arg) c.3004G>C (p.Gly1002Arg) | |
18 | g.23535528C>T | CA401791243 | NPC1 | c.3418G>A (p.Gly1140Arg) c.173G>A n.173G>A c.2496G>A c.95G>A c.3469G>A (p.Gly1157Arg) c.3004G>A (p.Gly1002Arg) | gnomAD v4 |
18 | g.23535529A>C | CA401791245 | NPC1 | c.3417T>G (p.Phe1139Leu) c.172T>G n.172T>G c.2495T>G c.94T>G c.3468T>G (p.Phe1156Leu) c.3003T>G (p.Phe1001Leu) | |
18 | g.23535529A>G | CA503521678 | NPC1 | c.3417T>C (p.Phe1139=) c.172T>C n.172T>C c.2495T>C c.94T>C c.3468T>C (p.Phe1156=) c.3003T>C (p.Phe1001=) | ClinVar dbSNP |
18 | g.23535529A>T | CA401791244 | NPC1 | c.3417T>A (p.Phe1139Leu) c.172T>A n.172T>A c.2495T>A c.94T>A c.3468T>A (p.Phe1156Leu) c.3003T>A (p.Phe1001Leu) | |
18 | g.23535530A>C | CA401791246 | NPC1 | c.3416T>G (p.Phe1139Cys) c.171T>G n.171T>G c.2494T>G c.93T>G c.3467T>G (p.Phe1156Cys) c.3002T>G (p.Phe1001Cys) | |
18 | g.23535530A>G | CA401791247 | NPC1 | c.3416T>C (p.Phe1139Ser) c.171T>C n.171T>C c.2494T>C c.93T>C c.3467T>C (p.Phe1156Ser) c.3002T>C (p.Phe1001Ser) | |
18 | g.23535530A>T | CA401791248 | NPC1 | c.3416T>A (p.Phe1139Tyr) c.171T>A n.171T>A c.2494T>A c.93T>A c.3467T>A (p.Phe1156Tyr) c.3002T>A (p.Phe1001Tyr) | gnomAD v4 |
18 | g.23535531A>C | CA401791249 | NPC1 | c.3415T>G (p.Phe1139Val) c.170T>G n.170T>G c.2493T>G c.92T>G c.3466T>G (p.Phe1156Val) c.3001T>G (p.Phe1001Val) | |
18 | g.23535531A>G | CA401791250 | NPC1 | c.3415T>C (p.Phe1139Leu) c.170T>C n.170T>C c.2493T>C c.92T>C c.3466T>C (p.Phe1156Leu) c.3001T>C (p.Phe1001Leu) | gnomAD v4 |
18 | g.23535531A>T | CA401791251 | NPC1 | c.3415T>A (p.Phe1139Ile) c.170T>A n.170T>A c.2493T>A c.92T>A c.3466T>A (p.Phe1156Ile) c.3001T>A (p.Phe1001Ile) | |
18 | g.23535532C>A | CA401791252 | NPC1 | c.3414G>T (p.Met1138Ile) c.169G>T n.169G>T c.2492G>T c.91G>T c.3465G>T (p.Met1155Ile) c.3000G>T (p.Met1000Ile) | |
18 | g.23535532C>G | CA401791253 | NPC1 | c.3414G>C (p.Met1138Ile) c.169G>C n.169G>C c.2492G>C c.91G>C c.3465G>C (p.Met1155Ile) c.3000G>C (p.Met1000Ile) | |
18 | g.23535532C>T | CA401791254 | NPC1 | c.3414G>A (p.Met1138Ile) c.169G>A n.169G>A c.2492G>A c.91G>A c.3465G>A (p.Met1155Ile) c.3000G>A (p.Met1000Ile) | |
18 | g.23535533A>C | CA401791255 | NPC1 | c.3413T>G (p.Met1138Arg) c.168T>G n.168T>G c.2491T>G c.90T>G c.3464T>G (p.Met1155Arg) c.2999T>G (p.Met1000Arg) | gnomAD v4 |
18 | g.23535533A>G | CA401791256 | NPC1 | c.3413T>C (p.Met1138Thr) c.168T>C n.168T>C c.2491T>C c.90T>C c.3464T>C (p.Met1155Thr) c.2999T>C (p.Met1000Thr) | ClinVar |
18 | g.23535533A>T | CA401791257 | NPC1 | c.3413T>A (p.Met1138Lys) c.168T>A n.168T>A c.2491T>A c.90T>A c.3464T>A (p.Met1155Lys) c.2999T>A (p.Met1000Lys) | |
18 | g.23535533_23535534del | CA2580095540 | NPC1 | c.3412_3413del (p.Met1138ValfsTer?) c.167_168del n.167_168del c.2490_2491del c.89_90del c.3463_3464del (p.Met1155ValfsTer?) c.2998_2999del (p.Met1000ValfsTer?) | ClinVar |
18 | g.23535534T>A | CA8912783 | NPC1 | c.3412A>T (p.Met1138Leu) c.167A>T n.167A>T c.2490A>T c.89A>T c.3463A>T (p.Met1155Leu) c.2998A>T (p.Met1000Leu) | dbSNP ExAC gnomAD v2 |
18 | g.23535534T>C | CA401791259 | NPC1 | c.3412A>G (p.Met1138Val) c.167A>G n.167A>G c.2490A>G c.89A>G c.3463A>G (p.Met1155Val) c.2998A>G (p.Met1000Val) | |
18 | g.23535534T>G | CA401791258 | NPC1 | c.3412A>C (p.Met1138Leu) c.167A>C n.167A>C c.2490A>C c.89A>C c.3463A>C (p.Met1155Leu) c.2998A>C (p.Met1000Leu) | |
18 | g.23535534T= | CA2290163872 | NPC1 | c.3412A= (p.Met1138=) c.167A= n.167A= c.2490A= c.89A= c.3463A= (p.Met1155=) c.2998A= (p.Met1000=) | |
18 | g.23535535G>A | CA503521679 | NPC1 | c.3411C>T (p.Asn1137=) c.166C>T n.166C>T c.2489C>T c.88C>T c.3462C>T (p.Asn1154=) c.2997C>T (p.Asn999=) | |
18 | g.23535535G>C | CA401791260 | NPC1 | c.3411C>G (p.Asn1137Lys) c.166C>G n.166C>G c.2489C>G c.88C>G c.3462C>G (p.Asn1154Lys) c.2997C>G (p.Asn999Lys) | |
18 | g.23535535G= | CA2290163873 | NPC1 | c.3411C= (p.Asn1137=) c.166C= n.166C= c.2489C= c.88C= c.3462C= (p.Asn1154=) c.2997C= (p.Asn999=) | |
18 | g.23535535G>T | CA401791261 | NPC1 | c.3411C>A (p.Asn1137Lys) c.166C>A n.166C>A c.2489C>A c.88C>A c.3462C>A (p.Asn1154Lys) c.2997C>A (p.Asn999Lys) | |
18 | g.23535536T>A | CA401791262 | NPC1 | c.3410A>T (p.Asn1137Ile) c.165A>T n.165A>T c.2488A>T c.87A>T c.3461A>T (p.Asn1154Ile) c.2996A>T (p.Asn999Ile) | |
18 | g.23535536T>C | CA401791263 | NPC1 | c.3410A>G (p.Asn1137Ser) c.165A>G n.165A>G c.2488A>G c.87A>G c.3461A>G (p.Asn1154Ser) c.2996A>G (p.Asn999Ser) | ClinVar dbSNP gnomAD v4 |
18 | g.23535536T>G | CA401791264 | NPC1 | c.3410A>C (p.Asn1137Thr) c.165A>C n.165A>C c.2488A>C c.87A>C c.3461A>C (p.Asn1154Thr) c.2996A>C (p.Asn999Thr) | |
18 | g.23535536T= | CA2290163874 | NPC1 | c.3410A= (p.Asn1137=) c.165A= n.165A= c.2488A= c.87A= c.3461A= (p.Asn1154=) c.2996A= (p.Asn999=) | |
18 | g.23535537dup | CA297079171 | NPC1 | c.3410dup (p.Asn1137LysfsTer?) c.165dup n.165dup c.2488dup c.87dup c.3461dup (p.Asn1154LysfsTer?) c.2996dup (p.Asn999LysfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23535537T>A | CA401791265 | NPC1 | c.3409A>T (p.Asn1137Tyr) c.164A>T n.164A>T c.2487A>T c.86A>T c.3460A>T (p.Asn1154Tyr) c.2995A>T (p.Asn999Tyr) | |
18 | g.23535537T>C | CA401791266 | NPC1 | c.3409A>G (p.Asn1137Asp) c.164A>G n.164A>G c.2487A>G c.86A>G c.3460A>G (p.Asn1154Asp) c.2995A>G (p.Asn999Asp) | |
18 | g.23535537T>G | CA401791267 | NPC1 | c.3409A>C (p.Asn1137His) c.164A>C n.164A>C c.2487A>C c.86A>C c.3460A>C (p.Asn1154His) c.2995A>C (p.Asn999His) |