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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
Search
Search criteria:
Gene:
CTLA4
& Disease:
CELIAC3
, 6 results
Search
Reset
ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
16921
CTLA4
c.49A>G
p.Thr17Ala (p.T17A)
NM_005214.5
M
SNV
B
5
+
10
CTLA4
c.49A>G
p.Thr17Ala (p.T17A)
NM_001037631.3
SNV
B
5
+
10
432079
CTLA4
c.410C>T
p.Pro137Leu (p.P137L)
NM_005214.5
M
SNV
P
5
+
5
CTLA4
c.410C>T
p.Pro137Leu (p.P137L)
NM_001037631.3
SNV
P
5
+
5
636389
CTLA4
c.457G>A
p.Asp153Asn (p.D153N)
NM_005214.5
M
SNV
P
5
+
0
CTLA4
c.457G>A
p.Ala153Thr (p.A153T)
NM_001037631.3
SNV
P
5
+
0
6 Results, 20 per Page
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