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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:
LMNA
& Disease:
BRGDA5
, 5 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
222695
LMNA
c.354_355delinsAG
p.Arg119Gly (p.R119G)
NM_170707.4
M
Indel
LP
2
+
0
LMNA
c.354_355delinsAG
p.Arg119Gly (p.R119G)
NM_005572.4
MP
Indel
LP
2
+
0
LMNA
c.354_355delinsAG
p.Arg119Gly (p.R119G)
NM_001282625.2
Indel
LP
2
+
0
LMNA
c.354_355delinsAG
p.Arg119Gly (p.R119G)
NM_001282626.2
Indel
LP
2
+
0
LMNA
c.354_355delinsAG
p.Arg119Gly (p.R119G)
NM_170708.4
Indel
LP
2
+
0
5 Results, 20 per Page
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