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.23535620_23535621delinsAT | CA2290163915 | NPC1 | c.3325_3326delinsAT (p.Ile1109=) c.80_81delinsAT n.80_81delinsAT c.2403_2404delinsAT c.2_3delinsAT c.3376_3377delinsAT (p.Ile1126=) c.2911_2912delinsAT (p.Ile971=) | |
18 | g.23535621del | CA16041910 | NPC1 | c.3325del (p.Ile1109TyrfsTer4) c.80del n.80del c.2403del c.2del c.3376del (p.Ile1126TyrfsTer4) c.2911del (p.Ile971TyrfsTer4) | ClinVar dbSNP |
18 | g.23535621T>A | CA401791444 | NPC1 | c.3325A>T (p.Ile1109Leu) c.80A>T n.80A>T c.2403A>T c.2A>T c.3376A>T (p.Ile1126Leu) c.2911A>T (p.Ile971Leu) | gnomAD v4 |
18 | g.23535621T>C | CA297079228 | NPC1 | c.3325A>G (p.Ile1109Val) c.80A>G n.80A>G c.2403A>G c.2A>G c.3376A>G (p.Ile1126Val) c.2911A>G (p.Ile971Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.23535621T>G | CA401791445 | NPC1 | c.3325A>C (p.Ile1109Leu) c.80A>C n.80A>C c.2403A>C c.2A>C c.3376A>C (p.Ile1126Leu) c.2911A>C (p.Ile971Leu) | |
18 | g.23535621T= | CA2290163916 | NPC1 | c.3325A= (p.Ile1109=) c.80A= n.80A= c.2403A= c.2A= c.3376A= (p.Ile1126=) c.2911A= (p.Ile971=) | |
18 | g.23535622C>A | CA503521736 | NPC1 | c.3324G>T (p.Ala1108=) c.79G>T n.79G>T c.2402G>T c.1G>T c.3375G>T (p.Ala1125=) c.2910G>T (p.Ala970=) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.23535622C= | CA2290163917 | NPC1 | c.3324G= (p.Ala1108=) c.79G= n.79G= c.2402G= c.1G= c.3375G= (p.Ala1125=) c.2910G= (p.Ala970=) | |
18 | g.23535622C>G | CA503521737 | NPC1 | c.3324G>C (p.Ala1108=) c.79G>C n.79G>C c.2402G>C c.1G>C c.3375G>C (p.Ala1125=) c.2910G>C (p.Ala970=) | |
18 | g.23535622C>T | CA8912796 | NPC1 | c.3324G>A (p.Ala1108=) c.79G>A n.79G>A c.2402G>A c.1G>A c.3375G>A (p.Ala1125=) c.2910G>A (p.Ala970=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23535623G>A | CA8912797 | NPC1 | c.3323C>T (p.Ala1108Val) c.78C>T n.78C>T c.2401C>T c.3374C>T (p.Ala1125Val) c.2909C>T (p.Ala970Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23535623G>C | CA401791446 | NPC1 | c.3323C>G (p.Ala1108Gly) c.78C>G n.78C>G c.2401C>G c.3374C>G (p.Ala1125Gly) c.2909C>G (p.Ala970Gly) | |
18 | g.23535623G= | CA2290163918 | NPC1 | c.3323C= (p.Ala1108=) c.78C= n.78C= c.2401C= c.3374C= (p.Ala1125=) c.2909C= (p.Ala970=) | |
18 | g.23535623G>T | CA401791447 | NPC1 | c.3323C>A (p.Ala1108Glu) c.78C>A n.78C>A c.2401C>A c.3374C>A (p.Ala1125Glu) c.2909C>A (p.Ala970Glu) | |
18 | g.23535624C>A | CA401791449 | NPC1 | c.3322G>T (p.Ala1108Ser) c.77G>T n.77G>T c.2400G>T c.3373G>T (p.Ala1125Ser) c.2908G>T (p.Ala970Ser) | |
18 | g.23535624C= | CA2290163919 | NPC1 | c.3322G= (p.Ala1108=) c.77G= n.77G= c.2400G= c.3373G= (p.Ala1125=) c.2908G= (p.Ala970=) | |
18 | g.23535624C>G | CA401791448 | NPC1 | c.3322G>C (p.Ala1108Pro) c.77G>C n.77G>C c.2400G>C c.3373G>C (p.Ala1125Pro) c.2908G>C (p.Ala970Pro) | |
18 | g.23535624C>T | CA8912798 | NPC1 | c.3322G>A (p.Ala1108Thr) c.77G>A n.77G>A c.2400G>A c.3373G>A (p.Ala1125Thr) c.2908G>A (p.Ala970Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23535624dup | CA2580095546 | NPC1 | c.3322dup (p.Ala1108GlyfsTer13) c.77dup n.77dup c.2400dup c.3373dup (p.Ala1125GlyfsTer13) c.2908dup (p.Ala970GlyfsTer13) | ClinVar dbSNP gnomAD v4 |
18 | g.23535625G>A | CA8912800 | NPC1 | c.3321C>T (p.Gly1107=) c.76C>T n.76C>T c.2399C>T c.3372C>T (p.Gly1124=) c.2907C>T (p.Gly969=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.23535625G>C | CA503521738 | NPC1 | c.3321C>G (p.Gly1107=) c.76C>G n.76C>G c.2399C>G c.3372C>G (p.Gly1124=) c.2907C>G (p.Gly969=) | |
18 | g.23535625G= | CA2290163920 | NPC1 | c.3321C= (p.Gly1107=) c.76C= n.76C= c.2399C= c.3372C= (p.Gly1124=) c.2907C= (p.Gly969=) | |
18 | g.23535625G>T | CA8912799 | NPC1 | c.3321C>A (p.Gly1107=) c.76C>A n.76C>A c.2399C>A c.3372C>A (p.Gly1124=) c.2907C>A (p.Gly969=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
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) |