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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:
SLC4A1
& Disease:
DRTA
, 3 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
17753
SLC4A1
c.1199_1225del
p.Ala400_Ala408del
NM_000342.4
M
Del
P
10
+
18
17763
SLC4A1
c.1766G>A
p.Arg589His (p.R589H)
NM_000342.4
M
SNV
P
3
+
11
17771
SLC4A1
c.2573C>A
p.Ala858Asp (p.A858D)
NM_000342.4
M
SNV
P
10
+
7
3 Results, 20 per Page
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