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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:
UHS1
, 3 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
374867
PADI3
c.881C>T
p.Ala294Val (p.A294V)
NM_016233.2
M
SNV
P
1
+
4
374868
PADI3
c.335T>A
p.Leu112His (p.L112H)
NM_016233.2
M
SNV
P
1
+
1
374869
PADI3
c.1813C>A
p.Pro605Thr (p.P605T)
NM_016233.2
M
SNV
P
1
+
1
3 Results, 20 per Page
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