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.23535626C>A | CA401791450 | NPC1 | c.3320G>T (p.Gly1107Val) c.75G>T n.75G>T c.2398G>T c.3371G>T (p.Gly1124Val) c.2906G>T (p.Gly969Val) | |
18 | g.23535626C>G | CA401791451 | NPC1 | c.3320G>C (p.Gly1107Ala) c.75G>C n.75G>C c.2398G>C c.3371G>C (p.Gly1124Ala) c.2906G>C (p.Gly969Ala) | |
18 | g.23535626C>T | CA401791452 | NPC1 | c.3320G>A (p.Gly1107Asp) c.75G>A n.75G>A c.2398G>A c.3371G>A (p.Gly1124Asp) c.2906G>A (p.Gly969Asp) | |
18 | g.23535628dup | CA2573155192 | NPC1 | c.3320dup (p.Ala1108ArgfsTer13) c.75dup n.75dup c.2398dup c.3371dup (p.Ala1125ArgfsTer13) c.2906dup (p.Ala970ArgfsTer13) | ClinVar dbSNP |
18 | g.23535627C>A | CA401791453 | NPC1 | c.3319G>T (p.Gly1107Cys) c.74G>T n.74G>T c.2397G>T c.3370G>T (p.Gly1124Cys) c.2905G>T (p.Gly969Cys) | |
18 | g.23535627C>G | CA401791454 | NPC1 | c.3319G>C (p.Gly1107Arg) c.74G>C n.74G>C c.2397G>C c.3370G>C (p.Gly1124Arg) c.2905G>C (p.Gly969Arg) | |
18 | g.23535627C>T | CA401791455 | NPC1 | c.3319G>A (p.Gly1107Ser) c.74G>A n.74G>A c.2397G>A c.3370G>A (p.Gly1124Ser) c.2905G>A (p.Gly969Ser) | gnomAD v4 |
18 | g.23535628C>A | CA503521739 | NPC1 | c.3318G>T (p.Leu1106=) c.73G>T n.73G>T c.2396G>T c.3369G>T (p.Leu1123=) c.2904G>T (p.Leu968=) | |
18 | g.23535628C= | CA2290163921 | NPC1 | c.3318G= (p.Leu1106=) c.73G= n.73G= c.2396G= c.3369G= (p.Leu1123=) c.2904G= (p.Leu968=) | |
18 | g.23535628C>G | CA503521740 | NPC1 | c.3318G>C (p.Leu1106=) c.73G>C n.73G>C c.2396G>C c.3369G>C (p.Leu1123=) c.2904G>C (p.Leu968=) | |
18 | g.23535628C>T | CA503521741 | NPC1 | c.3318G>A (p.Leu1106=) c.73G>A n.73G>A c.2396G>A c.3369G>A (p.Leu1123=) c.2904G>A (p.Leu968=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
18 | g.23535629A>C | CA401791456 | NPC1 | c.3317T>G (p.Leu1106Arg) c.72T>G n.72T>G c.2395T>G c.3368T>G (p.Leu1123Arg) c.2903T>G (p.Leu968Arg) | |
18 | g.23535629A>G | CA401791457 | NPC1 | c.3317T>C (p.Leu1106Pro) c.72T>C n.72T>C c.2395T>C c.3368T>C (p.Leu1123Pro) c.2903T>C (p.Leu968Pro) | |
18 | g.23535629A>T | CA401791458 | NPC1 | c.3317T>A (p.Leu1106Gln) c.72T>A n.72T>A c.2395T>A c.3368T>A (p.Leu1123Gln) c.2903T>A (p.Leu968Gln) | |
18 | g.23535630G>A | CA503521742 | NPC1 | c.3316C>T (p.Leu1106=) c.71C>T n.71C>T c.2394C>T c.3367C>T (p.Leu1123=) c.2902C>T (p.Leu968=) | |
18 | g.23535630G>C | CA401791459 | NPC1 | c.3316C>G (p.Leu1106Val) c.71C>G n.71C>G c.2394C>G c.3367C>G (p.Leu1123Val) c.2902C>G (p.Leu968Val) | gnomAD v4 |
18 | g.23535630G>T | CA401791460 | NPC1 | c.3316C>A (p.Leu1106Met) c.71C>A n.71C>A c.2394C>A c.3367C>A (p.Leu1123Met) c.2902C>A (p.Leu968Met) | |
18 | g.23535631G>A | CA503521743 | NPC1 | c.3315C>T (p.Ser1105=) c.70C>T n.70C>T c.2393C>T c.3366C>T (p.Ser1122=) c.2901C>T (p.Ser967=) | ClinVar dbSNP gnomAD v4 |
18 | g.23535631G>C | CA503521744 | NPC1 | c.3315C>G (p.Ser1105=) c.70C>G n.70C>G c.2393C>G c.3366C>G (p.Ser1122=) c.2901C>G (p.Ser967=) | |
18 | g.23535631G>T | CA503521745 | NPC1 | c.3315C>A (p.Ser1105=) c.70C>A n.70C>A c.2393C>A c.3366C>A (p.Ser1122=) c.2901C>A (p.Ser967=) | |
18 | g.23535632G>A | CA401791462 | NPC1 | c.3314C>T (p.Ser1105Phe) c.69C>T n.69C>T c.2392C>T c.3365C>T (p.Ser1122Phe) c.2900C>T (p.Ser967Phe) | dbSNP |
18 | g.23535632G>C | CA401791463 | NPC1 | c.3314C>G (p.Ser1105Cys) c.69C>G n.69C>G c.2392C>G c.3365C>G (p.Ser1122Cys) c.2900C>G (p.Ser967Cys) | |
18 | g.23535632G>T | CA401791461 | NPC1 | c.3314C>A (p.Ser1105Tyr) c.69C>A n.69C>A c.2392C>A c.3365C>A (p.Ser1122Tyr) c.2900C>A (p.Ser967Tyr) | ClinVar |
18 | g.23535633A>C | CA401791464 | NPC1 | c.3313T>G (p.Ser1105Ala) c.68T>G n.68T>G c.2391T>G c.3364T>G (p.Ser1122Ala) c.2899T>G (p.Ser967Ala) | |
18 | g.23535633A>G | CA401791465 | NPC1 | c.3313T>C (p.Ser1105Pro) c.68T>C n.68T>C c.2391T>C c.3364T>C (p.Ser1122Pro) c.2899T>C (p.Ser967Pro) | |
18 | g.23535633A>T | CA401791466 | NPC1 | c.3313T>A (p.Ser1105Thr) c.68T>A n.68T>A c.2391T>A c.3364T>A (p.Ser1122Thr) c.2899T>A (p.Ser967Thr) | |
18 | g.23535633_23535635del | CA2641278434 | NPC1 | c.3311_3313del (p.Val1104_Ser1105delinsAla) c.66_68del n.66_68del c.2389_2391del c.3362_3364del (p.Val1121_Ser1122delinsAla) c.2897_2899del (p.Val966_Ser967delinsAla) | gnomAD v4 |
18 | g.23535634C>A | CA503521746 | NPC1 | c.3312G>T (p.Val1104=) c.67G>T n.67G>T c.2390G>T c.3363G>T (p.Val1121=) c.2898G>T (p.Val966=) | |
18 | g.23535634C= | CA2290163922 | NPC1 | c.3312G= (p.Val1104=) c.67G= n.67G= c.2390G= c.3363G= (p.Val1121=) c.2898G= (p.Val966=) | |
18 | g.23535634C>G | CA503521747 | NPC1 | c.3312G>C (p.Val1104=) c.67G>C n.67G>C c.2390G>C c.3363G>C (p.Val1121=) c.2898G>C (p.Val966=) | |
18 | g.23535634C>T | CA8912801 | NPC1 | c.3312G>A (p.Val1104=) c.67G>A n.67G>A c.2390G>A c.3363G>A (p.Val1121=) c.2898G>A (p.Val966=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23535635A>C | CA401791467 | NPC1 | c.3311T>G (p.Val1104Gly) c.66T>G n.66T>G c.2389T>G c.3362T>G (p.Val1121Gly) c.2897T>G (p.Val966Gly) | |
18 | g.23535635A>G | CA401791468 | NPC1 | c.3311T>C (p.Val1104Ala) c.66T>C n.66T>C c.2389T>C c.3362T>C (p.Val1121Ala) c.2897T>C (p.Val966Ala) | |
18 | g.23535635A>T | CA401791469 | NPC1 | c.3311T>A (p.Val1104Glu) c.66T>A n.66T>A c.2389T>A c.3362T>A (p.Val1121Glu) c.2897T>A (p.Val966Glu) | |
18 | g.23535636C>A | CA401791470 | NPC1 | c.3310G>T (p.Val1104Leu) c.65G>T n.65G>T c.2388G>T c.3361G>T (p.Val1121Leu) c.2896G>T (p.Val966Leu) | |
18 | g.23535636C= | CA2290163923 | NPC1 | c.3310G= (p.Val1104=) c.65G= n.65G= c.2388G= c.3361G= (p.Val1121=) c.2896G= (p.Val966=) | |
18 | g.23535636C>G | CA401791471 | NPC1 | c.3310G>C (p.Val1104Leu) c.65G>C n.65G>C c.2388G>C c.3361G>C (p.Val1121Leu) c.2896G>C (p.Val966Leu) | |
18 | g.23535636C>T | CA401791472 | NPC1 | c.3310G>A (p.Val1104Met) c.65G>A n.65G>A c.2388G>A c.3361G>A (p.Val1121Met) c.2896G>A (p.Val966Met) | |
18 | g.23535637A= | CA2290163924 | NPC1 | c.3309T= (p.Gly1103=) c.64T= n.64T= c.2387T= c.3360T= (p.Gly1120=) c.2895T= (p.Gly965=) | |
18 | g.23535637A>C | CA503521748 | NPC1 | c.3309T>G (p.Gly1103=) c.64T>G n.64T>G c.2387T>G c.3360T>G (p.Gly1120=) c.2895T>G (p.Gly965=) | |
18 | g.23535637A>G | CA503521750 | NPC1 | c.3309T>C (p.Gly1103=) c.64T>C n.64T>C c.2387T>C c.3360T>C (p.Gly1120=) c.2895T>C (p.Gly965=) | dbSNP |
18 | g.23535637A>T | CA503521749 | NPC1 | c.3309T>A (p.Gly1103=) c.64T>A n.64T>A c.2387T>A c.3360T>A (p.Gly1120=) c.2895T>A (p.Gly965=) | ClinVar dbSNP |
18 | g.23535637dup | CA16041911 | NPC1 | c.3309dup (p.Val1104CysfsTer17) c.64dup n.64dup c.2387dup c.3360dup (p.Val1121CysfsTer17) c.2895dup (p.Val966CysfsTer17) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23535638C>A | CA401791475 | NPC1 | c.3308G>T (p.Gly1103Val) c.63G>T n.63G>T c.2386G>T c.3359G>T (p.Gly1120Val) c.2894G>T (p.Gly965Val) | gnomAD v4 |
18 | g.23535638C>G | CA401791474 | NPC1 | c.3308G>C (p.Gly1103Ala) c.63G>C n.63G>C c.2386G>C c.3359G>C (p.Gly1120Ala) c.2894G>C (p.Gly965Ala) | |
18 | g.23535638C>T | CA401791473 | NPC1 | c.3308G>A (p.Gly1103Asp) c.63G>A n.63G>A c.2386G>A c.3359G>A (p.Gly1120Asp) c.2894G>A (p.Gly965Asp) | gnomAD v4 |
18 | g.23535639C>A | CA401791476 | NPC1 | c.3307G>T (p.Gly1103Cys) c.62G>T n.62G>T c.2385G>T c.3358G>T (p.Gly1120Cys) c.2893G>T (p.Gly965Cys) | gnomAD v4 |
18 | g.23535639C= | CA2290163925 | NPC1 | c.3307G= (p.Gly1103=) c.62G= n.62G= c.2385G= c.3358G= (p.Gly1120=) c.2893G= (p.Gly965=) | |
18 | g.23535639C>G | CA401791477 | NPC1 | c.3307G>C (p.Gly1103Arg) c.62G>C n.62G>C c.2385G>C c.3358G>C (p.Gly1120Arg) c.2893G>C (p.Gly965Arg) | dbSNP gnomAD v4 |