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Mutation Direct

Effortless mutation search and display tool

Search criteria:
Gene: ELP4 & Disease: KERH, 288 results
ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
3474
--
SNV
P
13
+
8
--
SNV
P
13
+
8
--
SNV
P
13
+
8
304328
--
SNV
B
8
+
1
--
SNV
B
8
+
1
--
SNV
B
8
+
1
879619
--
SNV
VUS
3
+
0
880152
--
SNV
VUS
3
+
0
878112
--
SNV
VUS
3
+
0
878113
--
SNV
LB
6
+
0
879675
--
SNV
VUS
3
+
0
879183
--
SNV
VUS
3
+
0
880208
--
SNV
VUS
3
+
0
880209
--
SNV
VUS
3
+
0
879749
--
SNV
VUS
3
+
0
304289
--
SNV
LB
7
+
0
304290
--
Indel
VUS
9
+
0
304291
--
SNV
LB
7
+
0
304293
--
SNV
LB
7
+
0
304292
--
SNV
LB
7
+
0
288 Results, 20 per Page
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