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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:
TBX5
& Disease:
Heart Disease
, 6 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
495732
TBX5
c.985_987delinsAG
p.Glu329fs (p.E329fs)
NM_181486.4
M
Indel
LP
1
+
0
495731
TBX5
c.985_987delinsAC
p.Glu329fs (p.E329fs)
NM_181486.4
M
Indel
LP
1
+
0
495732
TBX5
c.985_987delinsAG
p.Glu329fs (p.E329fs)
NM_000192.3
Indel
LP
1
+
0
TBX5
c.835_837delinsAG
p.Glu279fs (p.E279fs)
NM_080717.4
Indel
LP
1
+
0
495731
TBX5
c.985_987delinsAC
p.Glu329fs (p.E329fs)
NM_000192.3
Indel
LP
1
+
0
TBX5
c.835_837delinsAC
p.Glu279fs (p.E279fs)
NM_080717.4
Indel
LP
1
+
0
6 Results, 20 per Page
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