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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:
PER2
& Disease:
FASPS1
, 9 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
6345
PER2
c.1984A>G
p.Ser662Gly (p.S662G)
NM_022817.3
M
SNV
P
1
+
1
2434645
PER2
c.14C>G
p.Ala5Gly (p.A5G)
NM_022817.3
M
SNV
VUS
1
+
0
2434650
PER2
c.293+1G>T
--
NM_022817.3
M
SNV
VUS
1
+
0
634825
PER2
c.595del
p.Leu199fs (p.L199fs)
NM_022817.3
M
Del
P
1
+
0
PER2
c.595delC
--
NM_022817.3
M
Del
P
1
+
0
2434646
PER2
c.1202G>A
p.Arg401His (p.R401H)
NM_022817.3
M
SNV
VUS
1
+
0
2434647
PER2
c.2542G>A
p.Ala848Thr (p.A848T)
NM_022817.3
M
SNV
VUS
1
+
0
634824
PER2
c.2963C>T
p.Pro988Leu (p.P988L)
NM_022817.3
M
SNV
VUS
1
+
0
2434649
PER2
c.3376C>T
p.His1126Tyr (p.H1126Y)
NM_022817.3
M
SNV
VUS
1
+
0
9 Results, 20 per Page
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