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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:
PADI3
& Disease:
CCCA
, 6 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
599194
PADI3
c.856A>G
p.Thr286Ala (p.T286A)
NM_016233.2
M
SNV
P
1
+
1
599195
PADI3
c.1744G>A
p.Ala582Thr (p.A582T)
NM_016233.2
M
SNV
P
1
+
1
599196
PADI3
c.1669C>T
p.Arg557Trp (p.R557W)
NM_016233.2
M
SNV
P
1
+
1
599197
PADI3
c.832-2A>G
--
NM_016233.2
M
SNV
P
1
+
1
599198
PADI3
c.1955G>A
p.Arg652Lys (p.R652K)
NM_016233.2
M
SNV
P
1
+
1
599199
PADI3
c.628C>T
p.Arg210Trp (p.R210W)
NM_016233.2
M
SNV
P
1
+
1
6 Results, 20 per Page
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