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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 MPDU1 O75352 p.Met1Thr rs104894588 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If [MIM:604041#0003]
Detail
0.48 (T)
0.459 (N)
N
2 MPDU1 O75352 p.Ala5Glu rs139135576 variant of unknown significance
Detail
0.29 (T)
0 (N)
N
3 MPDU1 O75352 p.Pro15Ser rs148935720 variant of unknown significance
Detail
0.40 (T)
0.344 (N)
N
4 MPDU1 O75352 p.Ser70Arg rs143646436 variant of unknown significance
Detail
0.01 (D)
0.994 (D)
N
5 MPDU1 O75352 p.Gly73Glu rs104894586 Congenital disorder of glycosylation type 1F (CDG1F) [MIM:609180]
Detail
0.00 (D)
1 (D)
N
6 MPDU1 O75352 p.Leu74Ser rs104894589 Congenital disorder of glycosylation type 1F (CDG1F) [MIM:609180]
Detail
0.00 (D)
1 (D)
N
7 MPDU1 O75352 p.Met80Arg rs11542650 variant of unknown significance
Detail
0.21 (T)
0.074 (N)
N
8 MPDU1 O75352 p.Phe100Leu rs148277451 variant of unknown significance
Detail
0.13 (T)
0.99 (D)
N
9 MPDU1 O75352 p.Thr113Met rs141320993 variant of unknown significance
Detail
0.10 (T)
1 (D)
N
10 MPDU1 O75352 p.Leu119Pro rs104894587 Congenital disorder of glycosylation type 1F (CDG1F) [MIM:609180]
Detail
0.05 (T)
1 (D)
N
11 MPDU1 O75352 p.Ala135Pro rs137983973 variant of unknown significance
Detail
0.32 (T)
0.066 (N)
N
12 MPDU1 O75352 p.Asn161Ser rs139854381 variant of unknown significance
Detail
0.61 (T)
1 (D)
N
13 MPDU1 O75352 p.Ala187Val rs139686892 variant of unknown significance
Detail
0.64 (T)
0.999 (D)
N
14 MPDU1 O75352 p.Val218Leu rs142953652 variant of unknown significance
Detail
0.50 (T)
0.085 (N)
N
15 MPDU1 O75352 p.Ser221Cys rs147742866 variant of unknown significance
Detail
0.12 (T)
0.805 (D)
N
16 MPDU1 O75352 p.Gly225Ser rs16956808 variant of unknown significance
Detail
0.46 (T)
0.578 (D)
N
17 MPDU1 O75352 p.Ala228Thr rs147912291 variant of unknown significance
Detail
0.39 (T)
0 (N)
N
18 MPDU1 O75352 p.Ala229Pro rs10852891 variant of unknown significance
Detail
(-)
(-)
N
19 MPDU1 O75352 p.Ala229Ser rs10852891 variant of unknown significance
Detail
(-)
(-)
N
20 MPDU1 O75352 p.Ala229Thr rs10852891 variant of unknown significance
Detail
0.42 (T)
0.244 (N)
N
21 MPDU1 O75352 p.Tyr234Asn rs150408854 variant of unknown significance
Detail
0.00 (D)
0.999 (D)
N
22 MPDU1 O75352 p.Lys238Asn rs138117224 variant of unknown significance
Detail
0.49 (T)
0.039 (N)
N