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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:
TUBB4A
& Disease:
Congenital Nervous System Abnormality
, 6 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
50985
TUBB4A
c.745G>A
p.Asp249Asn (p.D249N)
NM_006087.4
M
SNV
P
5
+
12
TUBB4A
c.898G>A
p.Asp300Asn (p.D300N)
NM_001289123.2
SNV
P
5
+
12
TUBB4A
c.880G>A
p.Asp294Asn (p.D294N)
NM_001289127.2
SNV
P
5
+
12
TUBB4A
c.745G>A
p.Asp249Asn (p.D249N)
NM_001289129.2
SNV
P
5
+
12
TUBB4A
c.529G>A
p.Asp177Asn (p.D177N)
NM_001289130.2
SNV
P
5
+
12
TUBB4A
c.529G>A
p.Asp177Asn (p.D177N)
NM_001289131.2
SNV
P
5
+
12
6 Results, 20 per Page
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