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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
Amyotrophic Lateral Sclerosis 1
USH2A c.8559-2A>G
Cystic Fibrosis
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Mutation Direct
Effortless mutation search and display tool
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Search criteria:
Gene:
GALK1
& Disease:
Epidermolysis Bullosa Simplex Localized Type
, 4 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
552889
GALK1
c.*22+925A>G
--
NM_001381985.1
SNV
LP
8
+
3
225396
GALK1
c.*22+722A>G
--
NM_001381985.1
SNV
LP
6
+
2
931093
GALK1
c.*23-746C>G
--
NM_001381985.1
SNV
VUS
2
+
1
1240734
GALK1
c.*22+1116G>C
--
NM_001381985.1
SNV
B
6
+
1
4 Results, 20 per Page
1
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