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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:
DMD
& Disease:
BWS
, 4 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
374191
DMD
c.1637G>A
p.Trp546Ter (p.W546X)
NM_004006.3
M
SNV
P
3
+
4
DMD
c.1613G>A
p.Trp538Ter (p.W538X)
NM_000109.4
SNV
P
3
+
4
DMD
c.1625G>A
p.Trp542Ter (p.W542X)
NM_004009.3
SNV
P
3
+
4
DMD
c.1268G>A
p.Trp423Ter (p.W423X)
NM_004010.3
SNV
P
3
+
4
4 Results, 20 per Page
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