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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:
TUBA1A
& Disease:
ACC
, 9 results
Search
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
372561
TUBA1A
c.652G>A
p.Asp218Asn (p.D218N)
NM_006009.4
M
SNV
P
7
+
5
TUBA1A
c.652G>A
p.Asp218Asn (p.D218N)
NM_001270399.2
SNV
P
7
+
5
TUBA1A
c.547G>A
p.Asp183Asn (p.D183N)
NM_001270400.2
SNV
P
7
+
5
208490
TUBA1A
c.1226T>C
p.Val409Ala (p.V409A)
NM_006009.4
M
SNV
P
7
+
4
TUBA1A
c.1226T>C
p.Val409Ala (p.V409A)
NM_001270399.2
SNV
P
7
+
4
TUBA1A
c.1121T>C
p.Val374Ala (p.V374A)
NM_001270400.2
SNV
P
7
+
4
632599
TUBA1A
c.180G>T
p.Lys60Asn (p.K60N)
NM_006009.4
M
SNV
LP
5
+
1
TUBA1A
c.180G>T
p.Lys60Asn (p.K60N)
NM_001270399.2
SNV
LP
5
+
1
TUBA1A
c.75G>T
p.Lys25Asn (p.K25N)
NM_001270400.2
SNV
LP
5
+
1
9 Results, 20 per Page
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