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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:
PTPA
& Disease:
PARK25
, 12 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
2576988
PTPA
c.788T>G
p.Met263Arg (p.M263R)
NM_178000.3
M
SNV
P
1
+
1
2576989
PTPA
c.407C>A
p.Ala136Asp (p.A136D)
NM_178000.3
M
SNV
P
1
+
1
2576988
PTPA
c.683T>G
p.Met228Arg (p.M228R)
NM_001193397.2
SNV
P
1
+
1
PTPA
c.701T>G
p.Met234Arg (p.M234R)
NM_001271832.2
SNV
P
1
+
1
PTPA
c.788T>G
p.Met263Arg (p.M263R)
NM_021131.5
SNV
P
1
+
1
PTPA
c.893T>G
p.Met298Arg (p.M298R)
NM_178001.3
SNV
P
1
+
1
PTPA
c.662T>G
p.Met221Arg (p.M221R)
NM_178003.3
SNV
P
1
+
1
2576989
PTPA
c.281C>A
p.Ala94Asp (p.A94D)
NM_178003.3
SNV
P
1
+
1
PTPA
c.302C>A
p.Ala101Asp (p.A101D)
NM_001193397.2
SNV
P
1
+
1
PTPA
c.320C>A
p.Ala107Asp (p.A107D)
NM_001271832.2
SNV
P
1
+
1
PTPA
c.407C>A
p.Ala136Asp (p.A136D)
NM_021131.5
SNV
P
1
+
1
PTPA
c.512C>A
p.Ala171Asp (p.A171D)
NM_178001.3
SNV
P
1
+
1
12 Results, 20 per Page
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