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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:
DSP
& Disease:
Heart Conduction Disease
, 6 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
44980
DSP
c.889G>A
p.Asp297Asn (p.D297N)
NM_004415.4
M
SNV
LB
6
+
3
DSP
c.889G>A
p.Asp297Asn (p.D297N)
NM_001008844.3
SNV
LB
6
+
3
DSP
c.889G>A
p.Asp297Asn (p.D297N)
NM_001319034.2
SNV
LB
6
+
3
418788
DSP
c.1054_1059delinsCA
p.Asp352fs (p.D352fs)
NM_004415.4
M
Indel
P
2
+
0
DSP
c.1054_1059delinsCA
p.Asp352fs (p.D352fs)
NM_001008844.3
Indel
P
2
+
0
DSP
c.1054_1059delinsCA
p.Asp352fs (p.D352fs)
NM_001319034.2
Indel
P
2
+
0
6 Results, 20 per Page
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