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Mutation Direct

Effortless mutation search and display tool

Search criteria:
Gene: KRTCAP3 & Disease: BBS20, 24 results
ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
97022
--
SNV
P
5
+
4
843644
--
SNV
LB
3
+
2
1455123
--
SNV
P
3
+
1
97023
--
MS
P
3
+
1
191366
--
SNV
P
1
+
1
1360420
--
Del
VUS
3
+
0
567846
--
SNV
VUS
3
+
0
964187
--
SNV
VUS
3
+
0
1118389
--
SNV
LB
3
+
0
767173
--
SNV
LB
3
+
0
1000135
--
SNV
VUS
3
+
0
388317
--
SNV
LB
3
+
0
662250
--
SNV
VUS
3
+
0
451341
--
SNV
LB
3
+
0
1001774
--
SNV
VUS
3
+
0
843597
--
SNV
VUS
3
+
0
1036167
--
SNV
VUS
3
+
0
1529224
--
SNV
LB
3
+
0
1120654
--
SNV
LB
3
+
0
1382803
--
SNV
VUS
3
+
0
24 Results, 20 per Page
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