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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:
KRT3
& Disease:
MECD2
, 4 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
1213856
KRT3
c.1492G>A
p.Glu498Lys (p.E498K)
NM_057088.3
M
SNV
LP
1
+
1
14632
KRT3
c.1525G>A
p.Glu509Lys (p.E509K)
NM_057088.3
M
SNV
P
1
+
1
66748
KRT3
c.1493A>T
p.Glu498Val (p.E498V)
NM_057088.3
M
SNV
P
1
+
1
66749
KRT3
c.1508G>C
p.Arg503Pro (p.R503P)
NM_057088.3
M
SNV
P
1
+
1
4 Results, 20 per Page
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