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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:
DYRK1A
& Disease:
ASD
, 7 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
162152
DYRK1A
c.736C>T
p.Arg246Ter (p.R246X)
NM_001347721.2
M
SNV
P
5
+
4
DYRK1A
c.736C>T
p.Arg246Ter (p.R246X)
NM_130436.2
SNV
P
5
+
4
DYRK1A
c.736C>T
p.Arg246Ter (p.R246X)
NM_001347722.2
SNV
P
5
+
4
DYRK1A
c.649C>T
p.Arg217Ter (p.R217X)
NM_001347723.2
SNV
P
5
+
4
DYRK1A
c.763C>T
p.Arg255Ter (p.R255X)
NM_001396.5
SNV
P
5
+
4
DYRK1A
c.763C>T
p.Arg255Ter (p.R255X)
NM_101395.2
SNV
P
5
+
4
DYRK1A
c.763C>T
p.Arg255Ter (p.R255X)
NM_130438.2
SNV
P
5
+
4
7 Results, 20 per Page
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