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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 ADCK3 Q8NI60 p.Lys17Arg rs150221608 variant of unknown significance
Detail
0.54 (T)
0.338 (N)
N
2 ADCK3 Q8NI60 p.Ala21Val rs142184584 variant of unknown significance
Detail
0.54 (T)
0.004 (N)
N
3 ADCK3 Q8NI60 p.Val23Met rs35582308 variant of unknown significance
Detail
0.11 (T)
0.491 (N)
N
4 ADCK3 Q8NI60 p.Gly34Arg rs142125927 variant of unknown significance
Detail
0.35 (T)
0.906 (D)
N
5 ADCK3 Q8NI60 p.His80Tyr rs76249490 variant of unknown significance
Detail
0.04 (D)
0.033 (N)
N
6 ADCK3 Q8NI60 p.His85Gln rs2297411 variant of unknown significance
Detail
0.60 (T)
0 (N)
N
7 ADCK3 Q8NI60 p.Ala87Thr rs138572539 variant of unknown significance
Detail
0.57 (T)
0 (N)
N
8 ADCK3 Q8NI60 p.Gly88Val rs141687205 variant of unknown significance
Detail
0.29 (T)
0.086 (N)
N
9 ADCK3 Q8NI60 p.Asp100Tyr rs150696959 variant of unknown significance
Detail
1.00 (T)
0.077 (N)
N
10 ADCK3 Q8NI60 p.Phe158Leu rs142652509 variant of unknown significance
Detail
0.70 (T)
0 (N)
N
11 ADCK3 Q8NI60 p.Thr174Lys rs181579601 variant of unknown significance
Detail
(-)
(-)
N
12 ADCK3 Q8NI60 p.Ala201Ser rs188599627 variant of unknown significance
Detail
(-)
(-)
N
13 ADCK3 Q8NI60 p.Arg202Gln rs145350362 variant of unknown significance
Detail
0.27 (T)
0.979 (D)
N
14 ADCK3 Q8NI60 p.Arg213Trp rs119468005 Coenzyme Q10 deficiency (CoQ10 deficiency) [MIM:607426]
Detail
0.00 (D)
1 (D)
N
15 ADCK3 Q8NI60 p.Val248Met rs148376283 variant of unknown significance
Detail
0.11 (T)
0.221 (N)
N
16 ADCK3 Q8NI60 p.Arg262Gln rs145422777 variant of unknown significance
Detail
0.18 (T)
0.999 (D)
N
17 ADCK3 Q8NI60 p.Thr266Met rs149924675 variant of unknown significance
Detail
0.07 (T)
1 (D)
N
18 ADCK3 Q8NI60 p.Arg271Cys rs145034527 variant of unknown significance
Detail
0.00 (D)
1 (D)
N
19 ADCK3 Q8NI60 p.Gly272Asp rs119468006 Coenzyme Q10 deficiency (CoQ10 deficiency) [MIM:607426]
Detail
0.00 (D)
1 (D)
N
20 ADCK3 Q8NI60 p.Gly272Val rs119468006 Coenzyme Q10 deficiency (CoQ10 deficiency) [MIM:607426]
Detail
0.00 (D)
1 (D)
N
21 ADCK3 Q8NI60 p.Asp285Ala rs143493998 variant of unknown significance
Detail
0.27 (T)
1 (D)
N
22 ADCK3 Q8NI60 p.Arg301Trp rs140246430 variant of unknown significance
Detail
0.00 (D)
1 (D)
N
23 ADCK3 Q8NI60 p.Tyr330Cys rs150243147 variant of unknown significance
Detail
0.06 (T)
0.887 (D)
N
24 ADCK3 Q8NI60 p.Ala337Thr rs143816043 variant of unknown significance
Detail
0.00 (D)
1 (D)
N
25 ADCK3 Q8NI60 p.Ile341Thr rs55798516 variant of unknown significance
Detail
0.00 (D)
1 (D)
N
26 ADCK3 Q8NI60 p.Asn374His rs146751657 variant of unknown significance
Detail
0.07 (T)
1 (D)
N
27 ADCK3 Q8NI60 p.Arg416Cys rs151292389 variant of unknown significance
Detail
0.04 (D)
0.976 (D)
N
28 ADCK3 Q8NI60 p.Asp420Asn rs147097934 variant of unknown significance
Detail
0.25 (T)
0.003 (N)
N
29 ADCK3 Q8NI60 p.Tyr429Cys rs144147839 variant of unknown significance
Detail
0.14 (T)
0.995 (D)
N
30 ADCK3 Q8NI60 p.Ser460Gly rs149364914 variant of unknown significance
Detail
0.40 (T)
0.912 (D)
N
31 ADCK3 Q8NI60 p.Arg464Trp rs139900636 variant of unknown significance
Detail
0.00 (D)
1 (D)
N
32 ADCK3 Q8NI60 p.Asn493Lys rs150918577 variant of unknown significance
Detail
0.00 (D)
1 (D)
N
33 ADCK3 Q8NI60 p.Arg512Trp rs149682899 variant of unknown significance
Detail
0.00 (D)
1 (D)
N
34 ADCK3 Q8NI60 p.Tyr514Cys rs119468008 Spinocerebellar ataxia autosomal recessive type 9 (SCAR9) [MIM:612016]
Detail
0.00 (D)
0.992 (D)
N
35 ADCK3 Q8NI60 p.Thr519Ser rs141260985 variant of unknown significance
Detail
0.17 (T)
0.808 (D)
N
36 ADCK3 Q8NI60 p.Gly549Ser rs119468009 Spinocerebellar ataxia autosomal recessive type 9 (SCAR9) [MIM:612016]
Detail
0.07 (T)
1 (D)
N
37 ADCK3 Q8NI60 p.Glu551Lys rs119468004 Coenzyme Q10 deficiency (CoQ10 deficiency) [MIM:607426]
Detail
0.10 (T)
1 (D)
N
38 ADCK3 Q8NI60 p.Ala558Thr rs142894121 variant of unknown significance
Detail
0.13 (T)
1 (D)
N
39 ADCK3 Q8NI60 p.Lys586Arg rs113308613 variant of unknown significance
Detail
1.00 (T)
0.005 (N)
N
40 ADCK3 Q8NI60 p.Asn589His rs142051104 variant of unknown significance
Detail
0.12 (T)
0.008 (N)
N
41 ADCK3 Q8NI60 p.Pro602Gln rs61995958 variant of unknown significance
Detail
0.00 (D)
1 (D)
N
42 ADCK3 Q8NI60 p.Pro602Arg rs61995958 variant of unknown significance
Detail
0.00 (D)
1 (D)
N
43 ADCK3 Q8NI60 p.Thr606Pro rs143650593 variant of unknown significance
Detail
0.16 (T)
0.989 (D)
N
44 ADCK3 Q8NI60 p.Arg626Cys rs141725964 variant of unknown significance
Detail
0.03 (D)
0.016 (N)
N
45 ADCK3 Q8NI60 p.Glu634Lys rs149335528 variant of unknown significance
Detail
0.54 (T)
0.008 (N)
N