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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:
KLHL7
& Disease:
BOPS
, 4 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
691635
KLHL7
c.249del
p.Phe83fs (p.F83fs)
NM_001031710.3
M
Del
P
1
+
0
KLHL7
c.247delT
--
NM_001031710.3
M
Del
P
1
+
0
KLHL7
c.249del
p.Phe83fs (p.F83fs)
NM_001172428.2
Del
P
1
+
0
KLHL7
c.105del
p.Phe35fs (p.F35fs)
NM_018846.5
Del
P
1
+
0
4 Results, 20 per Page
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