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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:
DNAAF11
& Disease:
Situs Inversus
, 7 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
39798
DNAAF11
c.436G>C
p.Asp146His (p.D146H)
NM_012472.6
M
SNV
P
4
+
4
DNAAF11
c.436G>C
p.Asp146His (p.D146H)
NM_001321961.2
SNV
P
4
+
4
DNAAF11
c.190G>C
p.Asp64His (p.D64H)
NM_001321962.2
SNV
P
4
+
4
DNAAF11
c.76G>C
p.Asp26His (p.D26H)
NM_001321963.2
SNV
P
4
+
4
DNAAF11
c.76G>C
p.Asp26His (p.D26H)
NM_001321964.2
SNV
P
4
+
4
DNAAF11
c.76G>C
p.Asp26His (p.D26H)
NM_001321965.2
SNV
P
4
+
4
DNAAF11
c.76G>C
p.Asp26His (p.D26H)
NM_001321966.2
SNV
P
4
+
4
7 Results, 20 per Page
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