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Mutation Direct

Effortless mutation search and display tool

Search criteria:
Gene: PKD1 & Disease: Tuberous Sclerosis, 10 results
ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
65179
--
Del
LB
1
+
0
65276
--
SNV
VUS
1
+
0
64862
--
Dup
VUS
1
+
0
65208
--
SNV
VUS
1
+
0
65144
--
SNV
LB
1
+
0
65179
--
Del
LB
1
+
0
65276
--
SNV
VUS
1
+
0
64862
--
Dup
VUS
1
+
0
65208
--
SNV
VUS
1
+
0
65144
--
SNV
LB
1
+
0
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Tutorials
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