1 
COL4A5 
P29400 
p.Met1Val 
rs104886050 
ALPORT SYNDROME, XLINKED; ATS [MIM:301050#0000] 


Detail 
0.50 (T) 
(N)  N 
2 
COL4A5 
P29400 
p.Gly54Asp 
rs104886043 
Alport syndrome Xlinked (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 Xlinked (APSX) [MIM:301050] 


Detail 
0.01 (D) 
(N)  N 
6 
COL4A5 
P29400 
p.Gly129Val 
 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.00 (D) 
(N)  N 
7 
COL4A5 
P29400 
p.Gly129Glu 
 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.01 (D) 
(N)  N 
8 
COL4A5 
P29400 
p.Gly144Ser 
rs104886052 
ALPORT SYNDROME, XLINKED; 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 Xlinked (APSX) [MIM:301050] 


Detail 
0.00 (D) 
(N)  N 
11 
COL4A5 
P29400 
p.Gly177Cys 
rs104886056 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.00 (D) 
(N)  N 
12 
COL4A5 
P29400 
p.Gly177Arg 
rs104886056 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.00 (D) 
(N)  N 
13 
COL4A5 
P29400 
p.Gly183Val 
rs104886059 
ALPORT SYNDROME, XLINKED; ATS [MIM:301050#0000] 


Detail 
0.06 (T) 
(N)  N 
14 
COL4A5 
P29400 
p.Gly192Arg 
rs104886060 
Alport syndrome Xlinked (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, XLINKED; ATS [MIM:301050#0000] 


Detail 
0.00 (D) 
(N)  N 
17 
COL4A5 
P29400 
p.Gly198Glu 
rs104886057 
ALPORT SYNDROME, XLINKED; ATS [MIM:301050#0000] 


Detail 
0.01 (D) 
(N)  N 
18 
COL4A5 
P29400 
p.Gly201Val 
rs104886062 
ALPORT SYNDROME, XLINKED; ATS [MIM:301050#0000] 


Detail 
0.00 (D) 
(N)  N 
19 
COL4A5 
P29400 
p.Gly204Asp 
rs104886063 
ALPORT SYNDROME, XLINKED; ATS [MIM:301050#0000] 


Detail 
0.01 (D) 
(N)  N 
20 
COL4A5 
P29400 
p.Gly204Val 
rs104886063 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.01 (D) 
(N)  N 
21 
COL4A5 
P29400 
p.Gly213Glu 
rs104886066 
ALPORT SYNDROME, XLINKED; ATS [MIM:301050#0000] 


Detail 
0.01 (D) 
(N)  N 
22 
COL4A5 
P29400 
p.Gly216Arg 
rs104886067 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.00 (D) 
(N)  N 
23 
COL4A5 
P29400 
p.Gly216Val 
rs104886074 
ALPORT SYNDROME, XLINKED; 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 Xlinked (APSX) [MIM:301050] 


Detail 
0.21 (T) 
(N)  N 
26 
COL4A5 
P29400 
p.Gly230Arg 
rs104886076 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.00 (D) 
(N)  N 
27 
COL4A5 
P29400 
p.Gly239Glu 
rs104886068 
Alport syndrome Xlinked (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 Xlinked (APSX) [MIM:301050] 


Detail 
0.00 (D) 
(N)  N 
30 
COL4A5 
P29400 
p.Gly264Asp 
rs104886070 
ALPORT SYNDROME, XLINKED; ATS [MIM:301050#0000] 


Detail 
0.01 (D) 
(N)  N 
31 
COL4A5 
P29400 
p.Gly289Val 
rs104886450 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.00 (D) 
(N)  N 
32 
COL4A5 
P29400 
p.Gly292Arg 
rs104886073 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.00 (D) 
(N)  N 
33 
COL4A5 
P29400 
p.Gly292Val 
rs104886078 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.00 (D) 
(N)  N 
34 
COL4A5 
P29400 
p.Gly295Asp 
rs104886079 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.01 (D) 
(N)  N 
35 
COL4A5 
P29400 
p.Gly298Ser 
rs104886080 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.01 (D) 
(N)  N 
36 
COL4A5 
P29400 
p.Gly307Asp 
rs104886082 
ALPORT SYNDROME, XLINKED; ATS [MIM:301050#0000] 


Detail 
0.01 (D) 
(N)  N 
37 
COL4A5 
P29400 
p.Gly310Arg 
rs104886083 
ALPORT SYNDROME, XLINKED; ATS [MIM:301050#0000] 


Detail 
0.00 (D) 
(N)  N 
38 
COL4A5 
P29400 
p.Gly313Ser 
rs104886084 
ALPORT SYNDROME, XLINKED; ATS [MIM:301050#0000] 


Detail 
0.02 (D) 
(N)  N 
39 
COL4A5 
P29400 
p.Gly319Asp 
rs104886086 
ALPORT SYNDROME, XLINKED; ATS [MIM:301050#0000] 


Detail 
0.01 (D) 
(N)  N 
40 
COL4A5 
P29400 
p.Gly319Arg 
rs104886085 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.00 (D) 
(N)  N 
41 
COL4A5 
P29400 
p.Pro324Ser 
rs104886087 
ALPORT SYNDROME, XLINKED; ATS [MIM:301050#0000] 


Detail 
0.29 (T) 
(N)  N 
42 
COL4A5 
P29400 
p.Gly325Arg 
rs104886088 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.01 (D) 
(N)  N 
43 
COL4A5 
P29400 
p.Gly325Ter 
rs104886088 
ALPORT SYNDROME, XLINKED [MIM:303630#0007] 


Detail 
() 
()  N 
44 
COL4A5 
P29400 
p.Gly325Glu 
rs104886091 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.01 (D) 
(N)  N 
45 
COL4A5 
P29400 
p.Gly331Val 
rs104886092 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.00 (D) 
(N)  N 
46 
COL4A5 
P29400 
p.Gly334Val 
rs104886093 
ALPORT SYNDROME, XLINKED; ATS [MIM:301050#0000] 


Detail 
0.00 (D) 
(N)  N 
47 
COL4A5 
P29400 
p.Gly365Glu 
rs104886096 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.00 (D) 
(N)  N 
48 
COL4A5 
P29400 
p.Gly371Glu 
rs104886097 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.03 (D) 
(N)  N 
49 
COL4A5 
P29400 
p.Gly374Ala 
rs104886108 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.01 (D) 
(N)  N 
50 
COL4A5 
P29400 
p.Gly380Asp 
rs104886098 
ALPORT SYNDROME, XLINKED; ATS [MIM:301050#0000] 


Detail 
0.00 (D) 
(N)  N 
51 
COL4A5 
P29400 
p.Gly383Asp 
rs104886105 
Alport syndrome Xlinked (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 Xlinked (APSX) [MIM:301050] 


Detail 
0.00 (D) 
(N)  N 
55 
COL4A5 
P29400 
p.Gly403Val 
rs104886099 
ALPORT SYNDROME, XLINKED; ATS [MIM:301050#0000] 


Detail 
0.00 (D) 
(N)  N 
56 
COL4A5 
P29400 
p.Gly406Val 
rs104886100 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.00 (D) 
(N)  N 
57 
COL4A5 
P29400 
p.Gly409Asp 
rs104886101 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.00 (D) 
(N)  N 
58 
COL4A5 
P29400 
p.Gly412Val 
rs104886102 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.01 (D) 
(N)  N 
59 
COL4A5 
P29400 
p.Gly415Arg 
rs104886103 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.02 (D) 
(N)  N 
60 
COL4A5 
P29400 
p.Gly420Val 
 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.00 (D) 
(N)  N 
61 
COL4A5 
P29400 
p.Gly420Glu 
 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.02 (D) 
(N)  N 
62 
COL4A5 
P29400 
p.Gly423Glu 
rs104886110 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.00 (D) 
(N)  N 
63 
COL4A5 
P29400 
p.Gly426Arg 
rs104886111 
ALPORT SYNDROME, XLINKED; ATS [MIM:301050#0000] 


Detail 
0.00 (D) 
(N)  N 
64 
COL4A5 
P29400 
p.Gly429Glu 
rs104886112 
ALPORT SYNDROME, XLINKED; 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 Xlinked (APSX) [MIM:301050] 


Detail 
0.00 (D) 
(N)  N 
68 
COL4A5 
P29400 
p.Gly469Glu 
rs104886115 
ALPORT SYNDROME, XLINKED; ATS [MIM:301050#0000] 


Detail 
0.00 (D) 
(N)  N 
69 
COL4A5 
P29400 
p.Gly472Arg 
rs104886116 
Alport syndrome Xlinked (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 Xlinked (APSX) [MIM:301050] 


Detail 
0.03 (D) 
(N)  N 
72 
COL4A5 
P29400 
p.Gly494Asp 
rs104886118 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.00 (D) 
(N)  N 
73 
COL4A5 
P29400 
p.Gly497Cys 
rs104886120 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.00 (D) 
(N)  N 
74 
COL4A5 
P29400 
p.Gly521Cys 
rs104886121 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.00 (D) 
(N)  N 
75 
COL4A5 
P29400 
p.Gly521Ser 
 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.01 (D) 
(N)  N 
76 
COL4A5 
P29400 
p.Gly521Asp 
rs104886122 
ALPORT SYNDROME, XLINKED; ATS [MIM:301050#0000] 


Detail 
0.04 (D) 
(N)  N 
77 
COL4A5 
P29400 
p.Gly524Asp 
rs104886119 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.00 (D) 
(N)  N 
78 
COL4A5 
P29400 
p.Gly536Asp 
rs104886125 
ALPORT SYNDROME, XLINKED; 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 Xlinked (APSX) [MIM:301050] 


Detail 
0.38 (T) 
(N)  N 
81 
COL4A5 
P29400 
p.Gly545Val 
rs104886127 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.53 (T) 
(N)  N 
82 
COL4A5 
P29400 
p.Gly558Arg 
rs104886129 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.11 (T) 
(N)  N 
83 
COL4A5 
P29400 
p.Gly561Arg 
rs104886136 
Alport syndrome Xlinked (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 Xlinked (APSX) [MIM:301050] 


Detail 
0.03 (D) 
(N)  N 
86 
COL4A5 
P29400 
p.Gly573Asp 
rs104886138 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.00 (D) 
(N)  N 
87 
COL4A5 
P29400 
p.Gly579Glu 
rs104886130 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.00 (D) 
(N)  N 
88 
COL4A5 
P29400 
p.Gly579Arg 
rs104886139 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.00 (D) 
(N)  N 
89 
COL4A5 
P29400 
p.Gly594Ser 
rs104886131 
ALPORT SYNDROME, XLINKED; ATS [MIM:301050#0000] 


Detail 
0.02 (D) 
(N)  N 
90 
COL4A5 
P29400 
p.Gly595Arg 
rs104886132 
ALPORT SYNDROME, XLINKED; ATS [MIM:301050#0000] 


Detail 
0.59 (T) 
(N)  N 
91 
COL4A5 
P29400 
p.Gly603Val 
rs104886133 
Alport syndrome Xlinked (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 Xlinked (APSX) [MIM:301050] 


Detail 
0.04 (D) 
(N)  N 
94 
COL4A5 
P29400 
p.Gly609Arg 
rs104886135 
Alport syndrome Xlinked (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 Xlinked (APSX) [MIM:301050] 


Detail 
0.00 (D) 
(N)  N 
97 
COL4A5 
P29400 
p.Gly624Asp 
rs104886142 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.06 (T) 
(N)  N 
98 
COL4A5 
P29400 
p.Gly626Ala 
rs104886143 
ALPORT SYNDROME, XLINKED; ATS [MIM:301050#0000] 


Detail 
0.07 (T) 
(N)  N 
99 
COL4A5 
P29400 
p.Gly629Asp 
rs104886144 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.02 (D) 
(N)  N 
100 
COL4A5 
P29400 
p.Gly632Asp 
rs104886145 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.00 (D) 
(N)  N 
101 
COL4A5 
P29400 
p.Glu633Lys 
rs104886146 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.88 (T) 
(N)  N 
102 
COL4A5 
P29400 
p.Gly635Asp 
 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.00 (D) 
(N)  N 
103 
COL4A5 
P29400 
p.Gly638Val 
rs104886134 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.00 (D) 
(N)  N 
104 
COL4A5 
P29400 
p.Gly638Ser 
rs104886147 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.00 (D) 
(N)  N 
105 
COL4A5 
P29400 
p.Gly638Asp 
rs104886134 
ALPORT SYNDROME, XLINKED; ATS [MIM:301050#0000] 


Detail 
0.00 (D) 
(N)  N 
106 
COL4A5 
P29400 
p.Gly638Ala 
rs104886134 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.00 (D) 
(N)  N 
107 
COL4A5 
P29400 
p.Gly653Arg 
rs104886150 
Alport syndrome Xlinked (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, XLINKED; ATS [MIM:301050#0000] 


Detail 
0.22 (T) 
(N)  N 
110 
COL4A5 
P29400 
p.Gly666Val 
rs104886153 
ALPORT SYNDROME, XLINKED; ATS [MIM:301050#0000] 


Detail 
0.53 (T) 
(N)  N 
111 
COL4A5 
P29400 
p.Gly669Ala 
rs104886151 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.19 (T) 
(N)  N 
112 
COL4A5 
P29400 
p.Gly675Ser 
rs104886157 
ALPORT SYNDROME, XLINKED; ATS [MIM:301050#0000] 


Detail 
0.01 (D) 
(N)  N 
113 
COL4A5 
P29400 
p.Gly681Asp 
rs104886158 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.00 (D) 
(N)  N 
114 
COL4A5 
P29400 
p.Gly684Val 
rs104886160 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.01 (D) 
(N)  N 
115 
COL4A5 
P29400 
p.Gly687Glu 
rs104886168 
Alport syndrome Xlinked (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, XLINKED; ATS [MIM:301050#0000] 


Detail 
0.29 (T) 
(N)  N 
118 
COL4A5 
P29400 
p.Gly716Arg 
rs104886161 
ALPORT SYNDROME, XLINKED; ATS [MIM:301050#0000] 


Detail 
0.09 (T) 
(N)  N 
119 
COL4A5 
P29400 
p.Gly722Glu 
rs104886163 
Alport syndrome Xlinked (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 Xlinked (APSX) [MIM:301050] 


Detail 
0.77 (T) 
(N)  N 
122 
COL4A5 
P29400 
p.Gly740Glu 
rs104886165 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.00 (D) 
(N)  N 
123 
COL4A5 
P29400 
p.Gly743Asp 
rs104886166 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.01 (D) 
(N)  N 
124 
COL4A5 
P29400 
p.Gly763Arg 
rs104886171 
ALPORT SYNDROME, XLINKED; ATS [MIM:301050#0000] 


Detail 
0.00 (D) 
(N)  N 
125 
COL4A5 
P29400 
p.Gly766Asp 
rs104886172 
ALPORT SYNDROME, XLINKED; ATS [MIM:301050#0000] 


Detail 
0.06 (T) 
(N)  N 
126 
COL4A5 
P29400 
p.Gly772Asp 
rs104886173 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.00 (D) 
(N)  N 
127 
COL4A5 
P29400 
p.Gly778Ser 
rs104886174 
ALPORT SYNDROME, XLINKED; ATS [MIM:301050#0000] 


Detail 
0.01 (D) 
(N)  N 
128 
COL4A5 
P29400 
p.Gly787Val 
rs104886176 
ALPORT SYNDROME, XLINKED; ATS [MIM:301050#0000] 


Detail 
0.00 (D) 
(N)  N 
129 
COL4A5 
P29400 
p.Gly796Arg 
rs104886177 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.00 (D) 
(N)  N 
130 
COL4A5 
P29400 
p.Gly802Arg 
rs104886179 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.00 (D) 
(N)  N 
131 
COL4A5 
P29400 
p.Gly808Glu 
rs104886180 
Alport syndrome Xlinked (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, XLINKED; ATS [MIM:301050#0000] 


Detail 
0.00 (D) 
(N)  N 
134 
COL4A5 
P29400 
p.Gly811Val 
rs104886183 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.00 (D) 
(N)  N 
135 
COL4A5 
P29400 
p.Gly822Arg 
rs104886184 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.00 (D) 
(N)  N 
136 
COL4A5 
P29400 
p.Gly837Ser 
rs104886185 
ALPORT SYNDROME, XLINKED; ATS [MIM:301050#0000] 


Detail 
0.05 (D) 
(N)  N 
137 
COL4A5 
P29400 
p.Gly852Arg 
rs104886186 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.00 (D) 
(N)  N 
138 
COL4A5 
P29400 
p.Gly852Glu 
rs104886187 
Alport syndrome Xlinked (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 Xlinked (APSX) [MIM:301050] 


Detail 
0.00 (D) 
(N)  N 
141 
COL4A5 
P29400 
p.Gly869Arg 
rs104886189 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.00 (D) 
(N)  N 
142 
COL4A5 
P29400 
p.Gly872Arg 
rs104886190 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.01 (D) 
(N)  N 
143 
COL4A5 
P29400 
p.Gly875Glu 
rs104886191 
ALPORT SYNDROME, XLINKED; ATS [MIM:301050#0000] 


Detail 
0.00 (D) 
(N)  N 
144 
COL4A5 
P29400 
p.Gly878Val 
rs104886199 
ALPORT SYNDROME, XLINKED; ATS [MIM:301050#0000] 


Detail 
0.00 (D) 
(N)  N 
145 
COL4A5 
P29400 
p.Gly878Arg 
 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.00 (D) 
(N)  N 
146 
COL4A5 
P29400 
p.Gly887Val 
rs104886201 
ALPORT SYNDROME, XLINKED; ATS [MIM:301050#0000] 


Detail 
0.00 (D) 
(N)  N 
147 
COL4A5 
P29400 
p.Met898Val 
rs104886192 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.28 (T) 
(N)  N 
148 
COL4A5 
P29400 
p.Gly902Glu 
rs104886361 
ALPORT SYNDROME, XLINKED; ATS [MIM:301050#0000] 


Detail 
0.02 (D) 
(N)  N 
149 
COL4A5 
P29400 
p.Gly902Val 
 
Alport syndrome Xlinked (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 Xlinked (APSX) [MIM:301050] 


Detail 
0.00 (D) 
(N)  N 
152 
COL4A5 
P29400 
p.Ser916Gly 
rs104886193 
ALPORT SYNDROME, XLINKED; 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, XLINKED; ATS [MIM:301050#0000] 


Detail 
0.00 (D) 
(N)  N 
155 
COL4A5 
P29400 
p.Gly941Cys 
rs104886196 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.00 (D) 
(N)  N 
156 
COL4A5 
P29400 
p.Gly947Asp 
rs104886370 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.00 (D) 
(N)  N 
157 
COL4A5 
P29400 
p.Gly953Val 
rs78972735 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.00 (D) 
(N)  N 
158 
COL4A5 
P29400 
p.Gly1006Ala 
 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.02 (D) 
(N)  N 
159 
COL4A5 
P29400 
p.Gly1006Val 
rs104886202 
Alport syndrome Xlinked (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 Xlinked (APSX) [MIM:301050] 


Detail 
0.01 (D) 
(N)  N 
163 
COL4A5 
P29400 
p.Gly1015Val 
rs104886211 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.03 (D) 
(N)  N 
164 
COL4A5 
P29400 
p.Gly1027Val 
rs104886209 
ALPORT SYNDROME, XLINKED; ATS [MIM:301050#0000] 


Detail 
0.00 (D) 
(N)  N 
165 
COL4A5 
P29400 
p.Gly1030Ser 
rs104886210 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.04 (D) 
(N)  N 
166 
COL4A5 
P29400 
p.Gly1036Val 
rs104886212 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.00 (D) 
(N)  N 
167 
COL4A5 
P29400 
p.Gly1039Ser 
rs104886214 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.01 (D) 
(N)  N 
168 
COL4A5 
P29400 
p.Gly1045Glu 
rs104886215 
Alport syndrome Xlinked (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, XLINKED; ATS [MIM:301050#0000] 


Detail 
0.06 (T) 
(N)  N 
171 
COL4A5 
P29400 
p.Gly1066Ser 
rs104886219 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.00 (D) 
(N)  N 
172 
COL4A5 
P29400 
p.Gly1066Ala 
rs104886221 
ALPORT SYNDROME, XLINKED; ATS [MIM:301050#0000] 


Detail 
0.00 (D) 
(N)  N 
173 
COL4A5 
P29400 
p.Gly1066Arg 
rs104886219 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.00 (D) 
(N)  N 
174 
COL4A5 
P29400 
p.Gly1083Ser 
rs104886223 
ALPORT SYNDROME, XLINKED; 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, XLINKED; ATS [MIM:301050#0000] 


Detail 
0.00 (D) 
(N)  N 
177 
COL4A5 
P29400 
p.Gly1086Asp 
rs104886232 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.00 (D) 
(N)  N 
178 
COL4A5 
P29400 
p.Gly1104Val 
rs104886224 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.00 (D) 
(N)  N 
179 
COL4A5 
P29400 
p.Gly1107Arg 
rs104886225 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.00 (D) 
(N)  N 
180 
COL4A5 
P29400 
p.Gly1143Ser 
rs104886228 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.01 (D) 
(N)  N 
181 
COL4A5 
P29400 
p.Gly1143Asp 
rs104886229 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.00 (D) 
(N)  N 
182 
COL4A5 
P29400 
p.Gly1158Trp 
rs104886389 
ALPORT SYNDROME, XLINKED; ATS [MIM:301050#0000] 


Detail 
0.00 (D) 
(N)  N 
183 
COL4A5 
P29400 
p.Gly1158Arg 
 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.00 (D) 
(N)  N 
184 
COL4A5 
P29400 
p.Gly1161Arg 
rs104886235 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.03 (D) 
(N)  N 
185 
COL4A5 
P29400 
p.Gly1167Ser 
rs104886236 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.03 (D) 
(N)  N 
186 
COL4A5 
P29400 
p.Gly1170Ser 
rs104886237 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.01 (D) 
(N)  N 
187 
COL4A5 
P29400 
p.Gly1179Arg 
rs104886240 
ALPORT SYNDROME, XLINKED; ATS [MIM:301050#0000] 


Detail 
0.00 (D) 
(N)  N 
188 
COL4A5 
P29400 
p.Gly1182Arg 
rs104886242 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.00 (D) 
(N)  N 
189 
COL4A5 
P29400 
p.Gly1196Arg 
rs104886244 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.00 (D) 
(N)  N 
190 
COL4A5 
P29400 
p.Gly1205Cys 
rs104886245 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.00 (D) 
(N)  N 
191 
COL4A5 
P29400 
p.Gly1211Arg 
rs104886246 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.01 (D) 
(N)  N 
192 
COL4A5 
P29400 
p.Gly1211Glu 
rs104886247 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.08 (T) 
(N)  N 
193 
COL4A5 
P29400 
p.Gly1214Glu 
rs104886248 
ALPORT SYNDROME, XLINKED; ATS [MIM:301050#0000] 


Detail 
0.09 (T) 
(N)  N 
194 
COL4A5 
P29400 
p.Gly1220Asp 
rs104886251 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.01 (D) 
(N)  N 
195 
COL4A5 
P29400 
p.Gly1223Val 
rs104886252 
ALPORT SYNDROME, XLINKED; ATS [MIM:301050#0000] 


Detail 
0.00 (D) 
(N)  N 
196 
COL4A5 
P29400 
p.Gly1229Asp 
rs104886253 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.00 (D) 
(N)  N 
197 
COL4A5 
P29400 
p.Gly1232Ser 
rs104886250 
ALPORT SYNDROME, XLINKED; ATS [MIM:301050#0000] 


Detail 
0.01 (D) 
(N)  N 
198 
COL4A5 
P29400 
p.Gly1241Cys 
rs104886255 
Alport syndrome Xlinked (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 Xlinked (APSX) [MIM:301050] 


Detail 
0.01 (D) 
(N)  N 
201 
COL4A5 
P29400 
p.Gly1252Ser 
rs104886262 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.47 (T) 
(N)  N 
202 
COL4A5 
P29400 
p.Gly1255Arg 
rs104886263 
ALPORT SYNDROME, XLINKED; ATS [MIM:301050#0000] 


Detail 
0.00 (D) 
(N)  N 
203 
COL4A5 
P29400 
p.Gly1261Glu 
rs104886264 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.00 (D) 
(N)  N 
204 
COL4A5 
P29400 
p.Gly1270Ser 
rs104886257 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.00 (D) 
(N)  N 
205 
COL4A5 
P29400 
p.Gln1302Arg 
rs104886399 
ALPORT SYNDROME, XLINKED; ATS [MIM:301050#0000] 


Detail 
0.56 (T) 
(N)  N 
206 
COL4A5 
P29400 
p.Gly1303Arg 
rs104886400 
ALPORT SYNDROME, XLINKED; 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 Xlinked (APSX) [MIM:301050] 


Detail 
0.00 (D) 
0.999 (D)  N 
209 
COL4A5 
P29400 
p.Gly1351Glu 
rs104886402 
ALPORT SYNDROME, XLINKED; 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, XLINKED; ATS [MIM:301050#0000] 


Detail 
0.00 (D) 
1 (D)  N 
212 
COL4A5 
P29400 
p.Gly1357Ser 
 
Alport syndrome Xlinked (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 Xlinked (APSX) [MIM:301050] 


Detail 
0.00 (D) 
1 (D)  N 
215 
COL4A5 
P29400 
p.Gly1394Arg 
rs104886407 
ALPORT SYNDROME, XLINKED; 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 Xlinked (APSX) [MIM:301050] 


Detail 
0.17 (T) 
0.999 (D)  N 
218 
COL4A5 
P29400 
p.Gly1421Trp 
rs104886272 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.00 (D) 
1 (D)  N 
219 
COL4A5 
P29400 
p.Arg1422Cys 
rs144282156 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.20 (T) 
0.999 (D)  N 
220 
COL4A5 
P29400 
p.Gly1427Cys 
rs104886273 
ALPORT SYNDROME, XLINKED; ATS [MIM:301050#0000] 


Detail 
0.00 (D) 
1 (D)  N 
221 
COL4A5 
P29400 
p.Gly1427Arg 
rs104886273 
ALPORT SYNDROME, XLINKED; ATS [MIM:301050#0000] 


Detail 
0.00 (D) 
1 (D)  N 
222 
COL4A5 
P29400 
p.Gly1427Val 
rs104886274 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.00 (D) 
1 (D)  N 
223 
COL4A5 
P29400 
p.Gly1427Asp 
rs104886274 
ALPORT SYNDROME, XLINKED; 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 Xlinked (APSX) [MIM:301050] 


Detail 
0.14 (T) 
1 (D)  N 
227 
COL4A5 
P29400 
p.Gly1442Ala 
rs104886277 
ALPORT SYNDROME, XLINKED; ATS [MIM:301050#0000] 


Detail 
0.03 (D) 
1 (D)  N 
228 
COL4A5 
P29400 
p.Gly1442Arg 
rs104886276 
ALPORT SYNDROME, XLINKED; 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, XLINKED; ATS [MIM:301050#0000] 


Detail 
0.00 (D) 
1 (D)  N 
231 
COL4A5 
P29400 
p.Gly1451Ser 
rs104886280 
Alport syndrome Xlinked (APSX) [MIM:301050] 


Detail 
0.03 (D) 
1 (D)  N 
232 
COL4A5 
P29400 
p.Gly1486Ala 
rs104886282 
Alport syndrome Xlinked (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 Xlinked (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 Xlinked (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 Xlinked (APSX) [MIM:301050] 
1li1 
A 
Detail 
0.17 (T) 
0.977 (D)  N 
5 
COL4A5 
P29400 
p.Pro1517Thr 
 
Alport syndrome Xlinked (APSX) [MIM:301050] 
1li1 
A 
Detail 
0.01 (D) 
1 (D)  D ( Predicted by rules : 1 2 ) 
4 
COL4A5 
P29400 
p.Trp1538Ser 
 
Alport syndrome Xlinked (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 Xlinked (APSX) [MIM:301050] 
1li1 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 ) 
3 
COL4A5 
P29400 
p.Cys1564Ser 
rs104886287 
Alport syndrome Xlinked (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, XLINKED; 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 Xlinked (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, XLINKED; 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, XLINKED; 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, XLINKED; 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, XLINKED; ATS [MIM:301050#0000] 
1li1 
A 
Detail 
0.01 (D) 
1 (D)  N 
4 
COL4A5 
P29400 
p.Gly1596Asp 
rs104886297 
Alport syndrome Xlinked (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, XLINKED; 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, XLINKED; 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, XLINKED; ATS [MIM:301050#0000] 
1li1 
A 
Detail 
0.03 (D) 
0.994 (D)  N 
4 
COL4A5 
P29400 
p.Cys1638Tyr 
rs104886302 
ALPORT SYNDROME, XLINKED; 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 Xlinked (APSX) [MIM:301050] 
1li1 
A 
Detail 
0.00 (D) 
1 (D)  N 
4 
COL4A5 
P29400 
p.Ser1659Asn 
rs104886305 
ALPORT SYNDROME, XLINKED; ATS [MIM:301050#0000] 
1li1 
A 
Detail 
0.55 (T) 
0.842 (D)  N 
5 
COL4A5 
P29400 
p.Arg1677Pro 
rs104886308 
Alport syndrome Xlinked (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 Xlinked (APSX) [MIM:301050] 
1li1 
A 
Detail 
0.01 (D) 
1 (D)  D ( Predicted by rules : 1 ) 
3 
COL4A5 
P29400 
p.Cys1678Arg 
rs104886310 
ALPORT SYNDROME, XLINKED; 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 Xlinked (APSX) [MIM:301050] 
1li1 
A 
Detail 
0.01 (D) 
1 (D)  D ( Predicted by rules : 1 2 ) 