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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:
ARVD9
, 10 results
Search
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
534281
DSP
c.4395T>G
p.Tyr1465Ter (p.Y1465X)
NM_004415.4
M
SNV
P
3
+
6
DSP
c.4050+345T>G
--
NM_001319034.2
SNV
P
3
+
6
DSP
c.3582+813T>G
--
NM_001008844.3
SNV
P
3
+
6
534275
DSP
c.5269C>T
p.Gln1757Ter (p.Q1757X)
NM_004415.4
M
SNV
P
3
+
3
DSP
c.4051-1183C>T
--
NM_001319034.2
SNV
P
3
+
3
DSP
c.3583-1183C>T
--
NM_001008844.3
SNV
P
3
+
3
199856
DSP
c.1141-2A>G
--
NM_004415.4
M
SNV
LP
1
+
0
DSP
c.1141-2A>G
--
NM_001319034.2
SNV
LP
1
+
0
DSP
c.1141-2A>G
--
NM_001008844.3
SNV
LP
1
+
0
DSP
c.1141-2A>G
--
NM_001406591.1
SNV
LP
1
+
0
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