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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:
PALB2
& Disease:
TPDS1
, 3 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
142408
PALB2
c.226del
p.Ile76fs (p.I76fs)
NM_024675.4
M
Del
P
5
+
8
142591
PALB2
c.2931dup
p.Val978fs (p.V978fs)
NM_024675.4
M
Dup
P
3
+
6
PALB2
c.2931dupA
--
NM_024675.4
M
Dup
P
3
+
6
3 Results, 20 per Page
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