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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 COL4A5 P29400 p.Met1Val rs104886050 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
Detail
0.50 (T)
(N)
N
2 COL4A5 P29400 p.Gly54Asp rs104886043 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.01 (D)
(N)
N
3 COL4A5 P29400 p.Arg74Leu rs137930367 variant of unknown significance
Detail
0.18 (T)
(N)
N
4 COL4A5 P29400 p.Pro107Ser rs182634806 variant of unknown significance
Detail
(-)
(-)
N
5 COL4A5 P29400 p.Gly114Ser - Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.01 (D)
(N)
N
6 COL4A5 P29400 p.Gly129Val - Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
7 COL4A5 P29400 p.Gly129Glu - Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.01 (D)
(N)
N
8 COL4A5 P29400 p.Gly144Ser rs104886052 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
Detail
0.01 (D)
(N)
N
9 COL4A5 P29400 p.Met163Thr rs142503631 variant of unknown significance
Detail
0.67 (T)
(N)
N
10 COL4A5 P29400 p.Gly174Arg rs104886055 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
11 COL4A5 P29400 p.Gly177Cys rs104886056 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
12 COL4A5 P29400 p.Gly177Arg rs104886056 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
13 COL4A5 P29400 p.Gly183Val rs104886059 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
Detail
0.06 (T)
(N)
N
14 COL4A5 P29400 p.Gly192Arg rs104886060 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
15 COL4A5 P29400 p.Ile194Val rs145970300 variant of unknown significance
Detail
0.35 (T)
(N)
N
16 COL4A5 P29400 p.Gly195Asp rs104886061 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
Detail
0.00 (D)
(N)
N
17 COL4A5 P29400 p.Gly198Glu rs104886057 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
Detail
0.01 (D)
(N)
N
18 COL4A5 P29400 p.Gly201Val rs104886062 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
Detail
0.00 (D)
(N)
N
19 COL4A5 P29400 p.Gly204Asp rs104886063 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
Detail
0.01 (D)
(N)
N
20 COL4A5 P29400 p.Gly204Val rs104886063 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.01 (D)
(N)
N
21 COL4A5 P29400 p.Gly213Glu rs104886066 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
Detail
0.01 (D)
(N)
N
22 COL4A5 P29400 p.Gly216Arg rs104886067 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
23 COL4A5 P29400 p.Gly216Val rs104886074 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
Detail
0.01 (D)
(N)
N
24 COL4A5 P29400 p.Asn217Ser rs149301668 variant of unknown significance
Detail
0.88 (T)
(N)
N
25 COL4A5 P29400 p.Gly219Ser rs104886075 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.21 (T)
(N)
N
26 COL4A5 P29400 p.Gly230Arg rs104886076 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
27 COL4A5 P29400 p.Gly239Glu rs104886068 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.01 (D)
(N)
N
28 COL4A5 P29400 p.Val253Ile rs112564124 variant of unknown significance
Detail
0.40 (T)
(N)
N
29 COL4A5 P29400 p.Gly264Arg rs104886069 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
30 COL4A5 P29400 p.Gly264Asp rs104886070 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
Detail
0.01 (D)
(N)
N
31 COL4A5 P29400 p.Gly289Val rs104886450 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
32 COL4A5 P29400 p.Gly292Arg rs104886073 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
33 COL4A5 P29400 p.Gly292Val rs104886078 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
34 COL4A5 P29400 p.Gly295Asp rs104886079 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.01 (D)
(N)
N
35 COL4A5 P29400 p.Gly298Ser rs104886080 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.01 (D)
(N)
N
36 COL4A5 P29400 p.Gly307Asp rs104886082 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
Detail
0.01 (D)
(N)
N
37 COL4A5 P29400 p.Gly310Arg rs104886083 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
Detail
0.00 (D)
(N)
N
38 COL4A5 P29400 p.Gly313Ser rs104886084 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
Detail
0.02 (D)
(N)
N
39 COL4A5 P29400 p.Gly319Asp rs104886086 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
Detail
0.01 (D)
(N)
N
40 COL4A5 P29400 p.Gly319Arg rs104886085 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
41 COL4A5 P29400 p.Pro324Ser rs104886087 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
Detail
0.29 (T)
(N)
N
42 COL4A5 P29400 p.Gly325Arg rs104886088 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.01 (D)
(N)
N
43 COL4A5 P29400 p.Gly325Ter rs104886088 ALPORT SYNDROME, X-LINKED [MIM:303630#0007]
Detail
(-)
(-)
N
44 COL4A5 P29400 p.Gly325Glu rs104886091 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.01 (D)
(N)
N
45 COL4A5 P29400 p.Gly331Val rs104886092 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
46 COL4A5 P29400 p.Gly334Val rs104886093 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
Detail
0.00 (D)
(N)
N
47 COL4A5 P29400 p.Gly365Glu rs104886096 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
48 COL4A5 P29400 p.Gly371Glu rs104886097 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.03 (D)
(N)
N
49 COL4A5 P29400 p.Gly374Ala rs104886108 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.01 (D)
(N)
N
50 COL4A5 P29400 p.Gly380Asp rs104886098 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
Detail
0.00 (D)
(N)
N
51 COL4A5 P29400 p.Gly383Asp rs104886105 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
52 COL4A5 P29400 p.Pro395Leu rs147256613 variant of unknown significance
Detail
0.32 (T)
(N)
N
53 COL4A5 P29400 p.Pro396Leu rs113013606 variant of unknown significance
Detail
0.30 (T)
(N)
N
54 COL4A5 P29400 p.Gly400Glu rs104886107 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
55 COL4A5 P29400 p.Gly403Val rs104886099 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
Detail
0.00 (D)
(N)
N
56 COL4A5 P29400 p.Gly406Val rs104886100 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
57 COL4A5 P29400 p.Gly409Asp rs104886101 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
58 COL4A5 P29400 p.Gly412Val rs104886102 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.01 (D)
(N)
N
59 COL4A5 P29400 p.Gly415Arg rs104886103 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.02 (D)
(N)
N
60 COL4A5 P29400 p.Gly420Val - Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
61 COL4A5 P29400 p.Gly420Glu - Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.02 (D)
(N)
N
62 COL4A5 P29400 p.Gly423Glu rs104886110 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
63 COL4A5 P29400 p.Gly426Arg rs104886111 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
Detail
0.00 (D)
(N)
N
64 COL4A5 P29400 p.Gly429Glu rs104886112 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
Detail
0.00 (D)
(N)
N
65 COL4A5 P29400 p.Ala430Asp rs142883891 variant of unknown significance
Detail
0.21 (T)
(N)
N
66 COL4A5 P29400 p.Ile444Ser rs2272946 variant of unknown significance
Detail
0.74 (T)
(N)
N
67 COL4A5 P29400 p.Gly466Glu rs104886114 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
68 COL4A5 P29400 p.Gly469Glu rs104886115 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
Detail
0.00 (D)
(N)
N
69 COL4A5 P29400 p.Gly472Arg rs104886116 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
70 COL4A5 P29400 p.Ile485Val rs150042298 variant of unknown significance
Detail
0.30 (T)
(N)
N
71 COL4A5 P29400 p.Gly491Glu rs104886117 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.03 (D)
(N)
N
72 COL4A5 P29400 p.Gly494Asp rs104886118 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
73 COL4A5 P29400 p.Gly497Cys rs104886120 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
74 COL4A5 P29400 p.Gly521Cys rs104886121 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
75 COL4A5 P29400 p.Gly521Ser - Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.01 (D)
(N)
N
76 COL4A5 P29400 p.Gly521Asp rs104886122 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
Detail
0.04 (D)
(N)
N
77 COL4A5 P29400 p.Gly524Asp rs104886119 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
78 COL4A5 P29400 p.Gly536Asp rs104886125 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
Detail
0.00 (D)
(N)
N
79 COL4A5 P29400 p.Phe540Leu rs145397553 variant of unknown significance
Detail
0.80 (T)
(N)
N
80 COL4A5 P29400 p.Gly545Arg rs104886126 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.38 (T)
(N)
N
81 COL4A5 P29400 p.Gly545Val rs104886127 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.53 (T)
(N)
N
82 COL4A5 P29400 p.Gly558Arg rs104886129 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.11 (T)
(N)
N
83 COL4A5 P29400 p.Gly561Arg rs104886136 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
84 COL4A5 P29400 p.Glu562Lys rs149228661 variant of unknown significance
Detail
0.80 (T)
(N)
N
85 COL4A5 P29400 p.Gly567Ala rs104886137 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.03 (D)
(N)
N
86 COL4A5 P29400 p.Gly573Asp rs104886138 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
87 COL4A5 P29400 p.Gly579Glu rs104886130 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
88 COL4A5 P29400 p.Gly579Arg rs104886139 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
89 COL4A5 P29400 p.Gly594Ser rs104886131 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
Detail
0.02 (D)
(N)
N
90 COL4A5 P29400 p.Gly595Arg rs104886132 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
Detail
0.59 (T)
(N)
N
91 COL4A5 P29400 p.Gly603Val rs104886133 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.03 (D)
(N)
N
92 COL4A5 P29400 p.Pro604Thr rs183934559 variant of unknown significance
Detail
(-)
(-)
N
93 COL4A5 P29400 p.Gly609Val rs104886140 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.04 (D)
(N)
N
94 COL4A5 P29400 p.Gly609Arg rs104886135 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
95 COL4A5 P29400 p.Pro619Ser - variant of unknown significance
Detail
0.41 (T)
(N)
N
96 COL4A5 P29400 p.Gly621Cys rs104886141 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
97 COL4A5 P29400 p.Gly624Asp rs104886142 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.06 (T)
(N)
N
98 COL4A5 P29400 p.Gly626Ala rs104886143 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
Detail
0.07 (T)
(N)
N
99 COL4A5 P29400 p.Gly629Asp rs104886144 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.02 (D)
(N)
N
100 COL4A5 P29400 p.Gly632Asp rs104886145 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
101 COL4A5 P29400 p.Glu633Lys rs104886146 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.88 (T)
(N)
N
102 COL4A5 P29400 p.Gly635Asp - Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
103 COL4A5 P29400 p.Gly638Val rs104886134 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
104 COL4A5 P29400 p.Gly638Ser rs104886147 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
105 COL4A5 P29400 p.Gly638Asp rs104886134 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
Detail
0.00 (D)
(N)
N
106 COL4A5 P29400 p.Gly638Ala rs104886134 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
107 COL4A5 P29400 p.Gly653Arg rs104886150 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
108 COL4A5 P29400 p.Lys664Asn rs34077552 variant of unknown significance
Detail
0.47 (T)
(N)
N
109 COL4A5 P29400 p.Gly666Asp rs104886153 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
Detail
0.22 (T)
(N)
N
110 COL4A5 P29400 p.Gly666Val rs104886153 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
Detail
0.53 (T)
(N)
N
111 COL4A5 P29400 p.Gly669Ala rs104886151 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.19 (T)
(N)
N
112 COL4A5 P29400 p.Gly675Ser rs104886157 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
Detail
0.01 (D)
(N)
N
113 COL4A5 P29400 p.Gly681Asp rs104886158 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
114 COL4A5 P29400 p.Gly684Val rs104886160 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.01 (D)
(N)
N
115 COL4A5 P29400 p.Gly687Glu rs104886168 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.01 (D)
(N)
N
116 COL4A5 P29400 p.Ile694Val rs141392937 variant of unknown significance
Detail
0.51 (T)
(N)
N
117 COL4A5 P29400 p.Ile703Val rs104886155 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
Detail
0.29 (T)
(N)
N
118 COL4A5 P29400 p.Gly716Arg rs104886161 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
Detail
0.09 (T)
(N)
N
119 COL4A5 P29400 p.Gly722Glu rs104886163 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.04 (D)
(N)
N
120 COL4A5 P29400 p.Pro739Ala rs104886164 variant of unknown significance
Detail
0.70 (T)
(N)
N
121 COL4A5 P29400 p.Pro739Ser rs104886164 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.77 (T)
(N)
N
122 COL4A5 P29400 p.Gly740Glu rs104886165 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
123 COL4A5 P29400 p.Gly743Asp rs104886166 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.01 (D)
(N)
N
124 COL4A5 P29400 p.Gly763Arg rs104886171 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
Detail
0.00 (D)
(N)
N
125 COL4A5 P29400 p.Gly766Asp rs104886172 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
Detail
0.06 (T)
(N)
N
126 COL4A5 P29400 p.Gly772Asp rs104886173 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
127 COL4A5 P29400 p.Gly778Ser rs104886174 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
Detail
0.01 (D)
(N)
N
128 COL4A5 P29400 p.Gly787Val rs104886176 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
Detail
0.00 (D)
(N)
N
129 COL4A5 P29400 p.Gly796Arg rs104886177 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
130 COL4A5 P29400 p.Gly802Arg rs104886179 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
131 COL4A5 P29400 p.Gly808Glu rs104886180 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
132 COL4A5 P29400 p.Met810Ile rs138083045 variant of unknown significance
Detail
0.21 (T)
(N)
N
133 COL4A5 P29400 p.Gly811Arg rs104886182 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
Detail
0.00 (D)
(N)
N
134 COL4A5 P29400 p.Gly811Val rs104886183 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
135 COL4A5 P29400 p.Gly822Arg rs104886184 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
136 COL4A5 P29400 p.Gly837Ser rs104886185 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
Detail
0.05 (D)
(N)
N
137 COL4A5 P29400 p.Gly852Arg rs104886186 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
138 COL4A5 P29400 p.Gly852Glu rs104886187 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
139 COL4A5 P29400 p.Pro858Thr rs147220200 variant of unknown significance
Detail
0.59 (T)
(N)
N
140 COL4A5 P29400 p.Gly866Glu rs104886188 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
141 COL4A5 P29400 p.Gly869Arg rs104886189 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
142 COL4A5 P29400 p.Gly872Arg rs104886190 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.01 (D)
(N)
N
143 COL4A5 P29400 p.Gly875Glu rs104886191 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
Detail
0.00 (D)
(N)
N
144 COL4A5 P29400 p.Gly878Val rs104886199 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
Detail
0.00 (D)
(N)
N
145 COL4A5 P29400 p.Gly878Arg - Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
146 COL4A5 P29400 p.Gly887Val rs104886201 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
Detail
0.00 (D)
(N)
N
147 COL4A5 P29400 p.Met898Val rs104886192 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.28 (T)
(N)
N
148 COL4A5 P29400 p.Gly902Glu rs104886361 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
Detail
0.02 (D)
(N)
N
149 COL4A5 P29400 p.Gly902Val - Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
150 COL4A5 P29400 p.Gly905Ser rs140753501 variant of unknown significance
Detail
0.01 (D)
(N)
N
151 COL4A5 P29400 p.Gly911Glu rs104886363 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
152 COL4A5 P29400 p.Ser916Gly rs104886193 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
Detail
0.21 (T)
(N)
N
153 COL4A5 P29400 p.Leu933Phe rs191497639 variant of unknown significance
Detail
(-)
(-)
N
154 COL4A5 P29400 p.Gly935Asp rs104886195 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
Detail
0.00 (D)
(N)
N
155 COL4A5 P29400 p.Gly941Cys rs104886196 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
156 COL4A5 P29400 p.Gly947Asp rs104886370 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
157 COL4A5 P29400 p.Gly953Val rs78972735 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
158 COL4A5 P29400 p.Gly1006Ala - Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.02 (D)
(N)
N
159 COL4A5 P29400 p.Gly1006Val rs104886202 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.04 (D)
(N)
N
160 COL4A5 P29400 p.Lys1008Arg rs142929745 variant of unknown significance
Detail
0.49 (T)
(N)
N
161 COL4A5 P29400 p.Asn1010Ser rs151077921 variant of unknown significance
Detail
0.46 (T)
(N)
N
162 COL4A5 P29400 p.Gly1015Glu - Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.01 (D)
(N)
N
163 COL4A5 P29400 p.Gly1015Val rs104886211 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.03 (D)
(N)
N
164 COL4A5 P29400 p.Gly1027Val rs104886209 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
Detail
0.00 (D)
(N)
N
165 COL4A5 P29400 p.Gly1030Ser rs104886210 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.04 (D)
(N)
N
166 COL4A5 P29400 p.Gly1036Val rs104886212 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
167 COL4A5 P29400 p.Gly1039Ser rs104886214 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.01 (D)
(N)
N
168 COL4A5 P29400 p.Gly1045Glu rs104886215 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.06 (T)
(N)
N
169 COL4A5 P29400 p.Pro1050Ser rs143945573 variant of unknown significance
Detail
0.34 (T)
(N)
N
170 COL4A5 P29400 p.Gly1063Val rs104886218 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
Detail
0.06 (T)
(N)
N
171 COL4A5 P29400 p.Gly1066Ser rs104886219 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
172 COL4A5 P29400 p.Gly1066Ala rs104886221 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
Detail
0.00 (D)
(N)
N
173 COL4A5 P29400 p.Gly1066Arg rs104886219 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
174 COL4A5 P29400 p.Gly1083Ser rs104886223 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
Detail
0.00 (D)
(N)
N
175 COL4A5 P29400 p.Glu1084Ala rs146873772 variant of unknown significance
Detail
1.00 (T)
(N)
N
176 COL4A5 P29400 p.Gly1086Arg rs104886231 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
Detail
0.00 (D)
(N)
N
177 COL4A5 P29400 p.Gly1086Asp rs104886232 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
178 COL4A5 P29400 p.Gly1104Val rs104886224 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
179 COL4A5 P29400 p.Gly1107Arg rs104886225 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
180 COL4A5 P29400 p.Gly1143Ser rs104886228 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.01 (D)
(N)
N
181 COL4A5 P29400 p.Gly1143Asp rs104886229 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
182 COL4A5 P29400 p.Gly1158Trp rs104886389 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
Detail
0.00 (D)
(N)
N
183 COL4A5 P29400 p.Gly1158Arg - Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
184 COL4A5 P29400 p.Gly1161Arg rs104886235 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.03 (D)
(N)
N
185 COL4A5 P29400 p.Gly1167Ser rs104886236 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.03 (D)
(N)
N
186 COL4A5 P29400 p.Gly1170Ser rs104886237 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.01 (D)
(N)
N
187 COL4A5 P29400 p.Gly1179Arg rs104886240 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
Detail
0.00 (D)
(N)
N
188 COL4A5 P29400 p.Gly1182Arg rs104886242 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
189 COL4A5 P29400 p.Gly1196Arg rs104886244 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
190 COL4A5 P29400 p.Gly1205Cys rs104886245 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
191 COL4A5 P29400 p.Gly1211Arg rs104886246 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.01 (D)
(N)
N
192 COL4A5 P29400 p.Gly1211Glu rs104886247 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.08 (T)
(N)
N
193 COL4A5 P29400 p.Gly1214Glu rs104886248 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
Detail
0.09 (T)
(N)
N
194 COL4A5 P29400 p.Gly1220Asp rs104886251 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.01 (D)
(N)
N
195 COL4A5 P29400 p.Gly1223Val rs104886252 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
Detail
0.00 (D)
(N)
N
196 COL4A5 P29400 p.Gly1229Asp rs104886253 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
197 COL4A5 P29400 p.Gly1232Ser rs104886250 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
Detail
0.01 (D)
(N)
N
198 COL4A5 P29400 p.Gly1241Cys rs104886255 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
199 COL4A5 P29400 p.Gly1244Ser rs143552311 variant of unknown significance
Detail
0.01 (D)
(N)
N
200 COL4A5 P29400 p.Gly1244Asp rs104886261 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.01 (D)
(N)
N
201 COL4A5 P29400 p.Gly1252Ser rs104886262 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.47 (T)
(N)
N
202 COL4A5 P29400 p.Gly1255Arg rs104886263 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
Detail
0.00 (D)
(N)
N
203 COL4A5 P29400 p.Gly1261Glu rs104886264 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
204 COL4A5 P29400 p.Gly1270Ser rs104886257 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
(N)
N
205 COL4A5 P29400 p.Gln1302Arg rs104886399 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
Detail
0.56 (T)
(N)
N
206 COL4A5 P29400 p.Gly1303Arg rs104886400 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
Detail
0.00 (D)
(N)
N
207 COL4A5 P29400 p.Arg1313Trp rs138903372 variant of unknown significance
Detail
0.18 (T)
(N)
N
208 COL4A5 P29400 p.Gly1333Ser rs104886266 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
0.999 (D)
N
209 COL4A5 P29400 p.Gly1351Glu rs104886402 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
Detail
0.00 (D)
1 (D)
N
210 COL4A5 P29400 p.Leu1352Ile rs143020337 variant of unknown significance
Detail
0.40 (T)
0.29 (N)
N
211 COL4A5 P29400 p.Gly1357Cys rs104886267 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
Detail
0.00 (D)
1 (D)
N
212 COL4A5 P29400 p.Gly1357Ser - Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.02 (D)
0.999 (D)
N
213 COL4A5 P29400 p.Gln1367Lys rs147447379 variant of unknown significance
Detail
0.10 (T)
0.29 (N)
N
214 COL4A5 P29400 p.Gly1379Val rs104886269 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
1 (D)
N
215 COL4A5 P29400 p.Gly1394Arg rs104886407 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
Detail
0.00 (D)
1 (D)
N
216 COL4A5 P29400 p.Thr1402Ser rs151278542 variant of unknown significance
Detail
0.76 (T)
0.445 (N)
N
217 COL4A5 P29400 p.Arg1410Cys rs104886270 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.17 (T)
0.999 (D)
N
218 COL4A5 P29400 p.Gly1421Trp rs104886272 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
1 (D)
N
219 COL4A5 P29400 p.Arg1422Cys rs144282156 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.20 (T)
0.999 (D)
N
220 COL4A5 P29400 p.Gly1427Cys rs104886273 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
Detail
0.00 (D)
1 (D)
N
221 COL4A5 P29400 p.Gly1427Arg rs104886273 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
Detail
0.00 (D)
1 (D)
N
222 COL4A5 P29400 p.Gly1427Val rs104886274 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.00 (D)
1 (D)
N
223 COL4A5 P29400 p.Gly1427Asp rs104886274 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
Detail
0.00 (D)
1 (D)
N
224 COL4A5 P29400 p.Leu1428Met - variant of unknown significance
Detail
0.14 (T)
0.996 (D)
N
225 COL4A5 P29400 p.Gln1431Glu rs143778018 variant of unknown significance
Detail
1.00 (T)
0.758 (D)
N
226 COL4A5 P29400 p.Gly1442Asp rs104886277 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.14 (T)
1 (D)
N
227 COL4A5 P29400 p.Gly1442Ala rs104886277 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
Detail
0.03 (D)
1 (D)
N
228 COL4A5 P29400 p.Gly1442Arg rs104886276 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
Detail
0.03 (D)
1 (D)
N
229 COL4A5 P29400 p.Pro1443Leu rs3198736 variant of unknown significance
Detail
0.51 (T)
0.996 (D)
N
230 COL4A5 P29400 p.Gly1448Ser rs104886279 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
Detail
0.00 (D)
1 (D)
N
231 COL4A5 P29400 p.Gly1451Ser rs104886280 Alport syndrome X-linked (APSX) [MIM:301050]
Detail
0.03 (D)
1 (D)
N
232 COL4A5 P29400 p.Gly1486Ala rs104886282 Alport syndrome X-linked (APSX) [MIM:301050]
1li1
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 )
4 COL4A5 P29400 p.Ser1488Phe rs104886283 Alport syndrome X-linked (APSX) [MIM:301050]
1li1
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 4 )
6 COL4A5 P29400 p.Ala1498Asp rs104886284 Alport syndrome X-linked (APSX) [MIM:301050]
1li1
A
Detail
0.08 (T)
0.999 (D)
D ( Predicted by rules : 1 )
3 COL4A5 P29400 p.Gly1500Val rs143176069 variant of unknown significance
1li1
A
Detail
0.08 (T)
1 (D)
D ( Predicted by rules : 1 2 )
4 COL4A5 P29400 p.Arg1511His rs104886285 Alport syndrome X-linked (APSX) [MIM:301050]
1li1
A
Detail
0.17 (T)
0.977 (D)
N
5 COL4A5 P29400 p.Pro1517Thr - Alport syndrome X-linked (APSX) [MIM:301050]
1li1
A
Detail
0.01 (D)
1 (D)
D ( Predicted by rules : 1 2 )
4 COL4A5 P29400 p.Trp1538Ser - Alport syndrome X-linked (APSX) [MIM:301050]
1li1
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 )
4 COL4A5 P29400 p.Pro1559Ala rs104886295 variant of unknown significance
1li1
A
Detail
0.14 (T)
1 (D)
N
5 COL4A5 P29400 p.Arg1563Gln - Alport syndrome X-linked (APSX) [MIM:301050]
1li1
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 )
3 COL4A5 P29400 p.Cys1564Ser rs104886287 Alport syndrome X-linked (APSX) [MIM:301050]
1li1
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 )
5 COL4A5 P29400 p.Cys1564Tyr rs104886287 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
1li1
A
Detail
0.01 (D)
1 (D)
D ( Predicted by rules : 1 2 )
4 COL4A5 P29400 p.Cys1567Arg rs104886288 Alport syndrome X-linked (APSX) [MIM:301050]
1li1
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 )
4 COL4A5 P29400 p.Ala1575Ser rs151130451 variant of unknown significance
1li1
A
Detail
0.01 (D)
0.997 (D)
D ( Predicted by rules : 1 2 )
4 COL4A5 P29400 p.Cys1586Arg rs104886289 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
1li1
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 4 5 6 7 )
9 COL4A5 P29400 p.Cys1586Phe rs104886290 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
1li1
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 4 5 6 )
8 COL4A5 P29400 p.Gly1589Val rs104886291 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
1li1
A
Detail
0.09 (T)
1 (D)
D ( Predicted by rules : 1 )
3 COL4A5 P29400 p.Trp1590Gly rs104886296 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
1li1
A
Detail
0.01 (D)
1 (D)
N
4 COL4A5 P29400 p.Gly1596Asp rs104886297 Alport syndrome X-linked (APSX) [MIM:301050]
1li1
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 )
4 COL4A5 P29400 p.Gly1596Ser rs104886424 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
1li1
A
Detail
0.02 (D)
1 (D)
D ( Predicted by rules : 1 )
3 COL4A5 P29400 p.Tyr1597Cys rs104886298 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
1li1
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 )
4 COL4A5 P29400 p.Tyr1597His rs112609729 variant of unknown significance
1li1
A
Detail
0.06 (T)
1 (D)
D ( Predicted by rules : 1 )
3 COL4A5 P29400 p.Met1601Ile rs104886300 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
1li1
A
Detail
0.03 (D)
0.994 (D)
N
4 COL4A5 P29400 p.Cys1638Tyr rs104886302 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
1li1
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 )
3 COL4A5 P29400 p.Leu1649Arg rs104886303 Alport syndrome X-linked (APSX) [MIM:301050]
1li1
A
Detail
0.00 (D)
1 (D)
N
4 COL4A5 P29400 p.Ser1659Asn rs104886305 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
1li1
A
Detail
0.55 (T)
0.842 (D)
N
5 COL4A5 P29400 p.Arg1677Pro rs104886308 Alport syndrome X-linked (APSX) [MIM:301050]
1li1
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 )
5 COL4A5 P29400 p.Arg1677Gln rs104886308 Alport syndrome X-linked (APSX) [MIM:301050]
1li1
A
Detail
0.01 (D)
1 (D)
D ( Predicted by rules : 1 )
3 COL4A5 P29400 p.Cys1678Arg rs104886310 ALPORT SYNDROME, X-LINKED; ATS [MIM:301050#0000]
1li1
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 )
4 COL4A5 P29400 p.Cys1678Trp rs104886311 Alport syndrome X-linked (APSX) [MIM:301050]
1li1
A
Detail
0.01 (D)
1 (D)
D ( Predicted by rules : 1 2 )