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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 HYLS1 Q96M11 p.Met14Thr rs149051246 variant of unknown significance
Detail
0.63 (T)
0.291 (N)
N
2 HYLS1 Q96M11 p.Met20Leu rs148189957 variant of unknown significance
Detail
0.69 (T)
0.002 (N)
N
3 HYLS1 Q96M11 p.Cys31Arg rs667782 variant of unknown significance
Detail
0.35 (T)
0.509 (D)
N
4 HYLS1 Q96M11 p.Lys91Asn rs78786765 variant of unknown significance
Detail
0.14 (T)
0.989 (D)
N
5 HYLS1 Q96M11 p.Val98Leu rs74423263 variant of unknown significance
Detail
0.05 (D)
0.971 (D)
N
6 HYLS1 Q96M11 p.Gln139His rs142255787 variant of unknown significance
Detail
0.17 (T)
0 (N)
N
7 HYLS1 Q96M11 p.Asp143Gly rs150443899 variant of unknown significance
Detail
0.43 (T)
0.001 (N)
N
8 HYLS1 Q96M11 p.His158Arg rs113034416 variant of unknown significance
Detail
0.38 (T)
0 (N)
N
9 HYLS1 Q96M11 p.Leu197Phe rs192439596 variant of unknown significance
Detail
(-)
(-)
N
10 HYLS1 Q96M11 p.Asp211Gly rs104894232 Hydrolethalus syndrome type 1 (HLS1) [MIM:236680]
Detail
0.04 (D)
0.999 (D)
N
11 HYLS1 Q96M11 p.Val213Ile rs144299921 variant of unknown significance
Detail
0.15 (T)
0.971 (D)
N
12 HYLS1 Q96M11 p.Arg248Pro rs139004406 variant of unknown significance
Detail
0.02 (D)
0.997 (D)
N
13 HYLS1 Q96M11 p.Arg248Gln rs139004406 variant of unknown significance
Detail
0.33 (T)
0.634 (D)
N
14 HYLS1 Q96M11 p.His257Arg rs143043755 variant of unknown significance
Detail
0.87 (T)
0.995 (D)
N
15 HYLS1 Q96M11 p.Arg276Cys rs140683804 variant of unknown significance
Detail
0.00 (D)
1 (D)
N
16 HYLS1 Q96M11 p.Arg280His rs139714318 variant of unknown significance
Detail
0.01 (D)
1 (D)
N