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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 COL7A1 Q02388 p.Thr30Ile rs74453879 variant of unknown significance
Detail
0.21 (T)
(N)
N
2 COL7A1 Q02388 p.Leu43Pro rs149317921 variant of unknown significance
Detail
0.00 (D)
(N)
N
3 COL7A1 Q02388 p.Phe68Ile rs140978063 variant of unknown significance
Detail
0.27 (T)
(N)
N
4 COL7A1 Q02388 p.Ala72Asp rs138319290 variant of unknown significance
Detail
0.28 (T)
(N)
N
5 COL7A1 Q02388 p.Gly93Asp rs151246821 variant of unknown significance
Detail
0.64 (T)
(N)
N
6 COL7A1 Q02388 p.Leu135Met rs145560571 variant of unknown significance
Detail
0.14 (T)
(N)
N
7 COL7A1 Q02388 p.Lys142Arg rs121912856 Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
Detail
0.07 (T)
(N)
N
8 COL7A1 Q02388 p.Val198Ile rs147177277 variant of unknown significance
Detail
0.63 (T)
(N)
N
9 COL7A1 Q02388 p.Arg213Gln rs62261469 variant of unknown significance
Detail
0.11 (T)
(N)
N
10 COL7A1 Q02388 p.Pro228Leu rs149904265 variant of unknown significance
Detail
0.47 (T)
(N)
N
11 COL7A1 Q02388 p.Pro268Ser rs35623035 variant of unknown significance
Detail
0.08 (T)
(N)
N
12 COL7A1 Q02388 p.Gly273Ala rs78877179 variant of unknown significance
Detail
1.00 (T)
(N)
N
13 COL7A1 Q02388 p.Pro277Leu rs188978813 variant of unknown significance
Detail
(-)
(-)
N
14 COL7A1 Q02388 p.Val285Ile rs142568125 variant of unknown significance
Detail
0.78 (T)
(N)
N
15 COL7A1 Q02388 p.Ile308Thr rs145738101 variant of unknown significance
Detail
0.52 (T)
(N)
N
16 COL7A1 Q02388 p.Tyr311Cys rs138772308 variant of unknown significance
Detail
0.12 (T)
(N)
N
17 COL7A1 Q02388 p.Pro331Leu rs145497414 variant of unknown significance
Detail
0.29 (T)
(N)
N
18 COL7A1 Q02388 p.Arg357Cys rs146041612 variant of unknown significance
Detail
0.02 (D)
(N)
N
19 COL7A1 Q02388 p.Glu372Gly rs141244073 variant of unknown significance
Detail
0.11 (T)
(N)
N
20 COL7A1 Q02388 p.Pro423Leu rs147947287 variant of unknown significance
Detail
0.69 (T)
(N)
N
21 COL7A1 Q02388 p.Thr429Ile rs141018618 variant of unknown significance
Detail
0.06 (T)
(N)
N
22 COL7A1 Q02388 p.Arg442Cys rs142108058 variant of unknown significance
Detail
0.05 (T)
(N)
N
23 COL7A1 Q02388 p.Arg450Cys rs139434755 variant of unknown significance
Detail
0.09 (T)
(N)
N
24 COL7A1 Q02388 p.Gly490Ser rs143372872 variant of unknown significance
Detail
0.68 (T)
(N)
N
25 COL7A1 Q02388 p.Glu492Lys rs145343367 variant of unknown significance
Detail
0.37 (T)
(N)
N
26 COL7A1 Q02388 p.Arg538His rs138791004 variant of unknown significance
Detail
0.03 (D)
(N)
N
27 COL7A1 Q02388 p.Arg538Cys rs184692105 variant of unknown significance
Detail
(-)
(-)
N
28 COL7A1 Q02388 p.Arg542His rs143991798 variant of unknown significance
Detail
0.13 (T)
(N)
N
29 COL7A1 Q02388 p.Ser543Asn rs76410546 variant of unknown significance
Detail
0.27 (T)
(N)
N
30 COL7A1 Q02388 p.Val547Phe rs2229823 variant of unknown significance
Detail
0.12 (T)
(N)
N
31 COL7A1 Q02388 p.Arg578Leu rs41290692 variant of unknown significance
Detail
0.96 (T)
(N)
N
32 COL7A1 Q02388 p.Arg582Cys rs145200529 variant of unknown significance
Detail
0.05 (T)
(N)
N
33 COL7A1 Q02388 p.Arg592Cys rs147470888 variant of unknown significance
Detail
0.07 (T)
(N)
N
34 COL7A1 Q02388 p.Pro595Leu rs2228561 Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
Detail
0.51 (T)
(N)
N
35 COL7A1 Q02388 p.Val621Ile rs143391124 variant of unknown significance
Detail
0.98 (T)
(N)
N
36 COL7A1 Q02388 p.Pro622His rs137942494 variant of unknown significance
Detail
0.00 (D)
(N)
N
37 COL7A1 Q02388 p.Gly626Ala rs141068802 variant of unknown significance
Detail
0.56 (T)
(N)
N
38 COL7A1 Q02388 p.Arg628Trp rs148836522 variant of unknown significance
Detail
0.04 (D)
(N)
N
39 COL7A1 Q02388 p.Gly636Val rs116005007 variant of unknown significance
Detail
0.01 (D)
(N)
N
40 COL7A1 Q02388 p.Gln662Arg rs139622306 variant of unknown significance
Detail
0.54 (T)
(N)
N
41 COL7A1 Q02388 p.Arg671Thr rs192754202 variant of unknown significance
Detail
(-)
(-)
N
42 COL7A1 Q02388 p.Ile704Val rs140182747 variant of unknown significance
Detail
0.95 (T)
(N)
N
43 COL7A1 Q02388 p.Arg716Gly rs143040168 variant of unknown significance
Detail
0.01 (D)
(N)
N
44 COL7A1 Q02388 p.Glu748Lys rs148411473 variant of unknown significance
Detail
0.87 (T)
(N)
N
45 COL7A1 Q02388 p.Pro764Leu rs151055269 variant of unknown significance
Detail
0.18 (T)
(N)
N
46 COL7A1 Q02388 p.Glu813Lys rs141649838 variant of unknown significance
Detail
0.13 (T)
(N)
N
47 COL7A1 Q02388 p.Gly833Ser rs143142534 variant of unknown significance
Detail
0.55 (T)
(N)
N
48 COL7A1 Q02388 p.Val848Phe rs149075437 variant of unknown significance
Detail
0.51 (T)
(N)
N
49 COL7A1 Q02388 p.Pro867Leu rs191043504 variant of unknown significance
Detail
(-)
(-)
N
50 COL7A1 Q02388 p.Pro889Leu rs146783561 variant of unknown significance
Detail
0.12 (T)
(N)
N
51 COL7A1 Q02388 p.Ala893Glu rs2854389 variant of unknown significance
Detail
0.15 (T)
(N)
N
52 COL7A1 Q02388 p.Leu921Gln rs141949156 variant of unknown significance
Detail
0.00 (D)
(N)
N
53 COL7A1 Q02388 p.Arg931His rs146934952 variant of unknown significance
Detail
0.58 (T)
(N)
N
54 COL7A1 Q02388 p.Arg931Cys rs143979792 variant of unknown significance
Detail
0.19 (T)
(N)
N
55 COL7A1 Q02388 p.Gly938Arg rs36087234 variant of unknown significance
Detail
0.34 (T)
(N)
N
56 COL7A1 Q02388 p.Pro939Leu rs150164903 variant of unknown significance
Detail
0.22 (T)
(N)
N
57 COL7A1 Q02388 p.Arg951Cys rs143593422 variant of unknown significance
Detail
0.05 (D)
(N)
N
58 COL7A1 Q02388 p.Arg1036Gln rs150873722 variant of unknown significance
Detail
0.29 (T)
(N)
N
59 COL7A1 Q02388 p.Pro1038Ser rs148291967 variant of unknown significance
Detail
0.25 (T)
(N)
N
60 COL7A1 Q02388 p.Ala1040Thr rs113041019 variant of unknown significance
Detail
0.52 (T)
(N)
N
61 COL7A1 Q02388 p.Arg1050Cys rs2229818 variant of unknown significance
Detail
0.05 (T)
(N)
N
62 COL7A1 Q02388 p.Arg1068Cys rs142720855 variant of unknown significance
Detail
0.06 (T)
(N)
N
63 COL7A1 Q02388 p.Ala1071Thr rs143245957 variant of unknown significance
Detail
0.60 (T)
(N)
N
64 COL7A1 Q02388 p.Arg1078Cys rs149154108 variant of unknown significance
Detail
0.04 (D)
(N)
N
65 COL7A1 Q02388 p.Arg1120Lys rs2228563 variant of unknown significance
Detail
0.93 (T)
(N)
N
66 COL7A1 Q02388 p.Arg1122His rs140317692 variant of unknown significance
Detail
0.12 (T)
(N)
N
67 COL7A1 Q02388 p.Val1138Met rs145048666 variant of unknown significance
Detail
0.27 (T)
(N)
N
68 COL7A1 Q02388 p.Ala1150Ser rs112242120 variant of unknown significance
Detail
0.75 (T)
(N)
N
69 COL7A1 Q02388 p.Arg1178Cys rs142991861 variant of unknown significance
Detail
0.17 (T)
(N)
N
70 COL7A1 Q02388 p.Arg1201His rs189206728 variant of unknown significance
Detail
(-)
(-)
N
71 COL7A1 Q02388 p.Arg1202His rs149011081 variant of unknown significance
Detail
0.54 (T)
(N)
N
72 COL7A1 Q02388 p.Ala1204Val rs144825552 variant of unknown significance
Detail
0.29 (T)
(N)
N
73 COL7A1 Q02388 p.Val1210Leu rs147391146 variant of unknown significance
Detail
0.70 (T)
(N)
N
74 COL7A1 Q02388 p.Val1216Met rs150513888 variant of unknown significance
Detail
0.21 (T)
(N)
N
75 COL7A1 Q02388 p.Met1262Thr rs141787797 variant of unknown significance
Detail
0.64 (T)
(N)
N
76 COL7A1 Q02388 p.Pro1270Leu rs145068043 variant of unknown significance
Detail
0.31 (T)
(N)
N
77 COL7A1 Q02388 p.Pro1277Leu rs35761247 Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
Detail
0.04 (D)
(N)
N
78 COL7A1 Q02388 p.Pro1288Thr rs144924478 variant of unknown significance
Detail
0.53 (T)
(N)
N
79 COL7A1 Q02388 p.Glu1297Lys rs149881350 variant of unknown significance
Detail
0.42 (T)
(N)
N
80 COL7A1 Q02388 p.Pro1331Ser rs139935808 variant of unknown significance
Detail
0.07 (T)
(N)
N
81 COL7A1 Q02388 p.Arg1334Cys rs141720633 variant of unknown significance
Detail
0.13 (T)
(N)
N
82 COL7A1 Q02388 p.Gly1347Arg rs121912833 Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
Detail
0.03 (D)
(N)
N
83 COL7A1 Q02388 p.Pro1349Leu rs184756277 variant of unknown significance
Detail
(-)
(-)
N
84 COL7A1 Q02388 p.Gly1353Arg rs149361101 variant of unknown significance
Detail
0.00 (D)
(N)
N
85 COL7A1 Q02388 p.Leu1363Pro rs142651984 variant of unknown significance
Detail
0.13 (T)
(N)
N
86 COL7A1 Q02388 p.Ser1373Leu rs140403507 variant of unknown significance
Detail
0.19 (T)
0.29 (N)
N
87 COL7A1 Q02388 p.Arg1388His rs142560414 variant of unknown significance
Detail
0.14 (T)
0.997 (D)
N
88 COL7A1 Q02388 p.Asp1404Asn rs146659822 variant of unknown significance
Detail
0.19 (T)
0.965 (D)
N
89 COL7A1 Q02388 p.Arg1408Trp rs143126677 variant of unknown significance
Detail
0.01 (D)
1 (D)
N
90 COL7A1 Q02388 p.Val1438Ile rs148625586 variant of unknown significance
Detail
0.39 (T)
0.616 (D)
N
91 COL7A1 Q02388 p.Asp1452Asn rs139141593 variant of unknown significance
Detail
0.45 (T)
0.991 (D)
N
92 COL7A1 Q02388 p.Pro1458Leu rs79378857 variant of unknown significance
Detail
0.79 (T)
0.991 (D)
N
93 COL7A1 Q02388 p.Arg1482Trp rs138551611 variant of unknown significance
Detail
0.03 (D)
1 (D)
N
94 COL7A1 Q02388 p.Glu1496Lys rs147112274 variant of unknown significance
Detail
0.87 (T)
0.973 (D)
N
95 COL7A1 Q02388 p.Arg1514His rs146686264 variant of unknown significance
Detail
0.12 (T)
0.894 (D)
N
96 COL7A1 Q02388 p.Gly1519Asp rs121912835 Transient bullous dermolysis of the newborn (TBDN) [MIM:131705]
Detail
0.35 (T)
1 (D)
N
97 COL7A1 Q02388 p.Pro1520Leu rs140114392 variant of unknown significance
Detail
0.71 (T)
0.351 (N)
N
98 COL7A1 Q02388 p.Gly1522Glu - Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
Detail
0.27 (T)
1 (D)
N
99 COL7A1 Q02388 p.Arg1529Cys rs144557024 variant of unknown significance
Detail
0.06 (T)
0.999 (D)
N
100 COL7A1 Q02388 p.Arg1538His rs2229824 variant of unknown significance
Detail
0.56 (T)
0.999 (D)
N
101 COL7A1 Q02388 p.Arg1538Cys rs149711883 variant of unknown significance
Detail
0.18 (T)
0.999 (D)
N
102 COL7A1 Q02388 p.Gly1546Arg rs73831831 variant of unknown significance
Detail
0.35 (T)
0.998 (D)
N
103 COL7A1 Q02388 p.Gly1557Arg - Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
Detail
0.17 (T)
1 (D)
N
104 COL7A1 Q02388 p.Ala1562Thr rs143352280 variant of unknown significance
Detail
0.53 (T)
0.307 (N)
N
105 COL7A1 Q02388 p.Arg1574Trp rs144663654 variant of unknown significance
Detail
0.23 (T)
1 (D)
N
106 COL7A1 Q02388 p.Arg1594Gln rs149869536 variant of unknown significance
Detail
0.47 (T)
0.949 (D)
N
107 COL7A1 Q02388 p.Gly1595Arg rs121912840 Nail disorder non-syndromic congenital type 8 (NDNC8) [MIM:607523]
Detail
0.35 (T)
0.999 (D)
N
108 COL7A1 Q02388 p.Gly1604Arg - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
Detail
0.46 (T)
1 (D)
N
109 COL7A1 Q02388 p.Gly1652Arg - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
Detail
0.00 (D)
1 (D)
N
110 COL7A1 Q02388 p.Arg1660Trp rs147285396 variant of unknown significance
Detail
0.03 (D)
1 (D)
N
111 COL7A1 Q02388 p.Ala1662Ser rs139905484 variant of unknown significance
Detail
0.72 (T)
0.873 (D)
N
112 COL7A1 Q02388 p.Pro1663Thr rs149342284 variant of unknown significance
Detail
0.19 (T)
0.979 (D)
N
113 COL7A1 Q02388 p.Arg1696Cys rs2229820 variant of unknown significance
Detail
0.00 (D)
1 (D)
N
114 COL7A1 Q02388 p.Pro1699Leu rs121912845 EPIDERMOLYSIS BULLOSA, PRETIBIAL, AUTOSOMAL RECESSIVE [MIM:120120#0029]
Detail
0.19 (T)
0.974 (D)
N
115 COL7A1 Q02388 p.Gly1703Glu - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
Detail
0.00 (D)
1 (D)
N
116 COL7A1 Q02388 p.Glu1717Lys rs148813404 variant of unknown significance
Detail
0.44 (T)
0.947 (D)
N
117 COL7A1 Q02388 p.Arg1724His rs146154014 variant of unknown significance
Detail
0.13 (T)
0.999 (D)
N
118 COL7A1 Q02388 p.Arg1772Trp - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
Detail
0.02 (D)
1 (D)
N
119 COL7A1 Q02388 p.Gly1776Arg - Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
Detail
0.00 (D)
1 (D)
N
120 COL7A1 Q02388 p.Ser1781Arg rs147919436 variant of unknown significance
Detail
0.17 (T)
0.947 (D)
N
121 COL7A1 Q02388 p.Gly1782Arg - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
Detail
0.08 (T)
0.999 (D)
N
122 COL7A1 Q02388 p.Gly1791Glu - Epidermolysis bullosa pruriginosa (EBP) [MIM:604129]
Detail
0.04 (D)
1 (D)
N
123 COL7A1 Q02388 p.Gly1812Arg - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
Detail
0.00 (D)
1 (D)
N
124 COL7A1 Q02388 p.Gly1815Arg rs121912841 Nail disorder non-syndromic congenital type 8 (NDNC8) [MIM:607523]
Detail
0.00 (D)
1 (D)
N
125 COL7A1 Q02388 p.Pro1820Arg rs143037856 variant of unknown significance
Detail
0.01 (D)
0.995 (D)
N
126 COL7A1 Q02388 p.Pro1825Leu rs137988302 variant of unknown significance
Detail
0.03 (D)
0.264 (N)
N
127 COL7A1 Q02388 p.Lys1831Arg rs141176276 variant of unknown significance
Detail
0.48 (T)
0.656 (D)
N
128 COL7A1 Q02388 p.Gly1845Arg - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
Detail
0.00 (D)
1 (D)
N
129 COL7A1 Q02388 p.Glu1858Lys rs147633212 variant of unknown significance
Detail
0.06 (T)
0.986 (D)
N
130 COL7A1 Q02388 p.Ala1864Thr rs17080261 variant of unknown significance
Detail
0.00 (D)
0.264 (N)
N
131 COL7A1 Q02388 p.Arg1870Cys rs145782204 variant of unknown significance
Detail
0.00 (D)
1 (D)
N
132 COL7A1 Q02388 p.Pro1885Leu rs151032217 variant of unknown significance
Detail
0.39 (T)
0.423 (N)
N
133 COL7A1 Q02388 p.Leu1891Phe rs139759871 variant of unknown significance
Detail
0.00 (D)
1 (D)
N
134 COL7A1 Q02388 p.Pro1940Leu rs149267939 variant of unknown significance
Detail
0.12 (T)
0.758 (D)
N
135 COL7A1 Q02388 p.Gly1950Asp rs143368099 variant of unknown significance
Detail
0.19 (T)
1 (D)
N
136 COL7A1 Q02388 p.Glu1958Asp rs138208939 variant of unknown significance
Detail
0.72 (T)
0.34 (N)
N
137 COL7A1 Q02388 p.Glu1975Lys rs2229821 variant of unknown significance
Detail
(-)
0.99 (D)
N
138 COL7A1 Q02388 p.Arg1976Gly rs143307229 variant of unknown significance
Detail
(-)
0.998 (D)
N
139 COL7A1 Q02388 p.Arg1977Leu rs182669506 variant of unknown significance
Detail
(-)
(-)
N
140 COL7A1 Q02388 p.Lys1981Arg - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
Detail
0.70 (T)
0.994 (D)
N
141 COL7A1 Q02388 p.Gly1982Trp - Epidermolysis bullosa dystrophica Hallopeau-Siemens type (HS-DEB) [MIM:226600]
Detail
0.01 (D)
1 (D)
N
142 COL7A1 Q02388 p.Glu1986Lys rs144208360 variant of unknown significance
Detail
0.37 (T)
0.995 (D)
N
143 COL7A1 Q02388 p.Gly2003Arg rs121912832 Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
Detail
0.00 (D)
1 (D)
N
144 COL7A1 Q02388 p.Gly2006Asp rs121912842 Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
Detail
0.00 (D)
1 (D)
N
145 COL7A1 Q02388 p.Gly2006Ala - Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
Detail
0.00 (D)
0.995 (D)
N
146 COL7A1 Q02388 p.Arg2008Gly - Epidermolysis bullosa dystrophica Hallopeau-Siemens type (HS-DEB) [MIM:226600]
Detail
0.02 (D)
0.959 (D)
N
147 COL7A1 Q02388 p.Arg2008Cys - Epidermolysis bullosa dystrophica Hallopeau-Siemens type (HS-DEB) [MIM:226600]
Detail
0.00 (D)
0.998 (D)
N
148 COL7A1 Q02388 p.Gly2009Arg - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
Detail
0.00 (D)
1 (D)
N
149 COL7A1 Q02388 p.Gly2015Glu rs121912843 Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
Detail
0.00 (D)
1 (D)
N
150 COL7A1 Q02388 p.Gly2025Ala - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
Detail
0.00 (D)
0.995 (D)
N
151 COL7A1 Q02388 p.Gly2028Ala - Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
Detail
0.00 (D)
0.995 (D)
N
152 COL7A1 Q02388 p.Gly2028Arg - Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
Detail
0.00 (D)
1 (D)
N
153 COL7A1 Q02388 p.Gly2031Ser rs121912838 Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
Detail
0.00 (D)
0.998 (D)
N
154 COL7A1 Q02388 p.Gly2034Trp - Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
Detail
0.00 (D)
1 (D)
N
155 COL7A1 Q02388 p.Gly2034Arg rs121912844 Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
Detail
0.00 (D)
1 (D)
N
156 COL7A1 Q02388 p.Gly2037Glu rs121912846 Epidermolysis bullosa dystrophica Pasini type (P-DEB) [MIM:131750]
Detail
0.00 (D)
1 (D)
N
157 COL7A1 Q02388 p.Gly2040Val - Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
Detail
0.00 (D)
1 (D)
N
158 COL7A1 Q02388 p.Gly2040Ser rs121912829 Epidermolysis bullosa dystrophica Pasini type (P-DEB) [MIM:131750]
Detail
0.00 (D)
0.999 (D)
N
159 COL7A1 Q02388 p.Gly2040Asp - Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
Detail
0.00 (D)
1 (D)
N
160 COL7A1 Q02388 p.Gly2043Trp - Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
Detail
0.00 (D)
1 (D)
N
161 COL7A1 Q02388 p.Gly2043Arg rs121912836 Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
Detail
0.00 (D)
1 (D)
N
162 COL7A1 Q02388 p.Gly2046Val - Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
Detail
0.00 (D)
1 (D)
N
163 COL7A1 Q02388 p.Gly2049Glu - Epidermolysis bullosa dystrophica Hallopeau-Siemens type (HS-DEB) [MIM:226600]
Detail
0.12 (T)
1 (D)
N
164 COL7A1 Q02388 p.Gly2055Glu - Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
Detail
0.00 (D)
1 (D)
N
165 COL7A1 Q02388 p.Arg2063Trp rs121912849 Epidermolysis bullosa dystrophica Hallopeau-Siemens type (HS-DEB) [MIM:226600]
Detail
0.00 (D)
1 (D)
N
166 COL7A1 Q02388 p.Gly2064Arg - Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
Detail
0.01 (D)
1 (D)
N
167 COL7A1 Q02388 p.Arg2069Cys rs121912855 Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
Detail
0.02 (D)
0.999 (D)
N
168 COL7A1 Q02388 p.Gly2070Arg - Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
Detail
0.00 (D)
1 (D)
N
169 COL7A1 Q02388 p.Gly2073Val rs121912848 EPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL DOMINANT [MIM:120120#0033]
Detail
0.00 (D)
1 (D)
N
170 COL7A1 Q02388 p.Gly2073Asp - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
Detail
0.00 (D)
1 (D)
N
171 COL7A1 Q02388 p.Gly2076Asp rs121912850 Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
Detail
0.03 (D)
1 (D)
N
172 COL7A1 Q02388 p.Gly2079Arg - Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
Detail
0.07 (T)
1 (D)
N
173 COL7A1 Q02388 p.Gly2079Glu - Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
Detail
0.07 (T)
1 (D)
N
174 COL7A1 Q02388 p.Pro2089Thr rs139920321 variant of unknown significance
Detail
0.82 (T)
0.997 (D)
N
175 COL7A1 Q02388 p.Pro2089Leu rs111460426 variant of unknown significance
Detail
0.04 (D)
0.999 (D)
N
176 COL7A1 Q02388 p.Gly2132Asp - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
Detail
0.41 (T)
1 (D)
N
177 COL7A1 Q02388 p.Pro2134Ser rs148638156 variant of unknown significance
Detail
0.00 (D)
0.027 (N)
N
178 COL7A1 Q02388 p.Leu2154Arg rs147438248 variant of unknown significance
Detail
0.11 (T)
0.184 (N)
N
179 COL7A1 Q02388 p.Arg2158His rs138626345 variant of unknown significance
Detail
0.19 (T)
0.701 (D)
N
180 COL7A1 Q02388 p.Pro2191Leu rs140543032 variant of unknown significance
Detail
0.36 (T)
(N)
N
181 COL7A1 Q02388 p.Gly2192Ser - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
Detail
0.19 (T)
(N)
N
182 COL7A1 Q02388 p.Pro2199Leu rs143221297 variant of unknown significance
Detail
0.75 (T)
(N)
N
183 COL7A1 Q02388 p.Gly2207Arg - Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
Detail
0.00 (D)
(N)
N
184 COL7A1 Q02388 p.Pro2240Leu rs147600715 variant of unknown significance
Detail
0.19 (T)
(N)
N
185 COL7A1 Q02388 p.Gly2242Arg rs121912837 Epidermolysis bullosa pruriginosa (EBP) [MIM:604129]
Detail
0.75 (T)
(N)
N
186 COL7A1 Q02388 p.Gly2251Glu rs121912834 Transient bullous dermolysis of the newborn (TBDN) [MIM:131705]
Detail
0.34 (T)
(N)
N
187 COL7A1 Q02388 p.Gly2263Val - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
Detail
0.03 (D)
(N)
N
188 COL7A1 Q02388 p.Ala2264Thr rs147356310 variant of unknown significance
Detail
0.43 (T)
(N)
N
189 COL7A1 Q02388 p.Gly2287Arg rs121912839 variant of unknown significance
Detail
0.07 (T)
(N)
N
190 COL7A1 Q02388 p.Gly2296Glu - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
Detail
0.16 (T)
(N)
N
191 COL7A1 Q02388 p.Arg2346Cys rs145729761 variant of unknown significance
Detail
0.02 (D)
(N)
N
192 COL7A1 Q02388 p.Gly2351Arg rs1800013 variant of unknown significance
Detail
0.00 (D)
(N)
N
193 COL7A1 Q02388 p.Pro2364Thr rs113813395 variant of unknown significance
Detail
0.06 (T)
(N)
N
194 COL7A1 Q02388 p.Gly2366Ser - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
Detail
0.10 (T)
(N)
N
195 COL7A1 Q02388 p.Gly2369Ser - Epidermolysis bullosa pruriginosa (EBP) [MIM:604129]
Detail
0.43 (T)
(N)
N
196 COL7A1 Q02388 p.Gly2374Arg rs181430415 variant of unknown significance
Detail
(-)
(-)
N
197 COL7A1 Q02388 p.Val2375Asp rs142059751 variant of unknown significance
Detail
0.03 (D)
(N)
N
198 COL7A1 Q02388 p.Pro2376Leu rs150193295 variant of unknown significance
Detail
0.01 (D)
(N)
N
199 COL7A1 Q02388 p.Pro2384Ser rs141478471 variant of unknown significance
Detail
0.07 (T)
(N)
N
200 COL7A1 Q02388 p.Pro2406Leu rs144788938 variant of unknown significance
Detail
0.03 (D)
(N)
N
201 COL7A1 Q02388 p.Pro2429Leu rs2229822 variant of unknown significance
Detail
0.13 (T)
(N)
N
202 COL7A1 Q02388 p.Pro2438Arg rs185142403 variant of unknown significance
Detail
(-)
(-)
N
203 COL7A1 Q02388 p.Arg2492Gln rs143283465 variant of unknown significance
Detail
0.58 (T)
(N)
N
204 COL7A1 Q02388 p.Glu2503Gly rs79803648 variant of unknown significance
Detail
0.23 (T)
(N)
N
205 COL7A1 Q02388 p.Arg2532Trp rs149574155 variant of unknown significance
Detail
0.01 (D)
(N)
N
206 COL7A1 Q02388 p.Gly2557Arg - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
Detail
0.00 (D)
(N)
N
207 COL7A1 Q02388 p.Gly2569Arg - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
Detail
0.01 (D)
(N)
N
208 COL7A1 Q02388 p.Gly2575Arg - Epidermolysis bullosa dystrophica Hallopeau-Siemens type (HS-DEB) [MIM:226600]
Detail
0.01 (D)
(N)
N
209 COL7A1 Q02388 p.Arg2622Trp rs139318843 Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
Detail
0.03 (D)
(N)
N
210 COL7A1 Q02388 p.Gly2623Cys rs121912831 Epidermolysis bullosa dystrophica pretibial type (PR-DEB) [MIM:131850]
Detail
0.00 (D)
(N)
N
211 COL7A1 Q02388 p.Gly2641Val rs151181960 variant of unknown significance
Detail
0.00 (D)
(N)
N
212 COL7A1 Q02388 p.Arg2651Cys rs142103925 variant of unknown significance
Detail
0.01 (D)
(N)
N
213 COL7A1 Q02388 p.Gly2653Arg rs121912851 Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
Detail
0.00 (D)
(N)
N
214 COL7A1 Q02388 p.Ser2670Leu rs143975533 variant of unknown significance
Detail
0.31 (T)
(N)
N
215 COL7A1 Q02388 p.Gly2671Val - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
Detail
0.00 (D)
(N)
N
216 COL7A1 Q02388 p.Gly2674Asp - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
Detail
0.01 (D)
(N)
N
217 COL7A1 Q02388 p.Gly2674Arg - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
Detail
0.00 (D)
(N)
N
218 COL7A1 Q02388 p.Pro2681Ser rs139416346 variant of unknown significance
Detail
(-)
(-)
N
219 COL7A1 Q02388 p.Pro2681Thr rs139416346 variant of unknown significance
Detail
0.50 (T)
(N)
N
220 COL7A1 Q02388 p.Gly2713Asp - Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
Detail
0.06 (T)
(N)
N
221 COL7A1 Q02388 p.Gly2713Arg - Epidermolysis bullosa pruriginosa (EBP) [MIM:604129]
Detail
0.33 (T)
(N)
N
222 COL7A1 Q02388 p.Gly2740Ala - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
Detail
0.06 (T)
(N)
N
223 COL7A1 Q02388 p.Pro2747Leu rs139566877 variant of unknown significance
Detail
0.19 (T)
(N)
N
224 COL7A1 Q02388 p.Gly2749Arg rs121912853 Epidermolysis bullosa dystrophica Hallopeau-Siemens type (HS-DEB) [MIM:226600]
Detail
0.00 (D)
(N)
N
225 COL7A1 Q02388 p.Glu2764Lys rs141883531 variant of unknown significance
Detail
0.32 (T)
(N)
N
226 COL7A1 Q02388 p.Arg2770Trp rs147462803 variant of unknown significance
Detail
0.19 (T)
(N)
N
227 COL7A1 Q02388 p.Gly2775Ser - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
Detail
0.26 (T)
(N)
N
228 COL7A1 Q02388 p.Arg2791Trp rs142566193 Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
Detail
0.02 (D)
(N)
N
229 COL7A1 Q02388 p.Arg2795His rs138263686 variant of unknown significance
Detail
0.09 (T)
(N)
N
230 COL7A1 Q02388 p.Met2798Lys rs121912828 Epidermolysis bullosa dystrophica Hallopeau-Siemens type (HS-DEB) [MIM:226600]
Detail
1.00 (T)
(N)
N
231 COL7A1 Q02388 p.Ala2810Thr rs143995717 variant of unknown significance
Detail
0.57 (T)
(N)
N
232 COL7A1 Q02388 p.Gly2825Ser rs139308059 variant of unknown significance
Detail
0.99 (T)
(N)
N
233 COL7A1 Q02388 p.Arg2835His rs139014122 variant of unknown significance
Detail
0.46 (T)
(N)
N
234 COL7A1 Q02388 p.Glu2842Lys rs149393855 variant of unknown significance
Detail
0.87 (T)
(N)
N
235 COL7A1 Q02388 p.Arg2844Trp rs138002006 variant of unknown significance
Detail
0.04 (D)
(N)
N
236 COL7A1 Q02388 p.Pro2847Ser rs140041143 variant of unknown significance
Detail
0.72 (T)
(N)
N
237 COL7A1 Q02388 p.Arg2895Gln rs147911102 variant of unknown significance
Detail
0.18 (T)
(N)
N
238 COL7A1 Q02388 p.Tyr2909Phe rs139416916 variant of unknown significance
Detail
0.11 (T)
(N)
N
239 COL7A1 Q02388 p.Arg2927His rs150903058 variant of unknown significance
Detail
0.27 (T)
(N)
N
240 COL7A1 Q02388 p.Arg2927Cys rs150635097 variant of unknown significance
Detail
0.09 (T)
(N)
N
241 COL7A1 Q02388 p.Pro2931Ser rs145381088 variant of unknown significance
Detail
0.35 (T)
(N)
N
242 COL7A1 Q02388 p.Ser2936Arg rs138568420 variant of unknown significance
Detail
0.30 (T)
(N)
N