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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
Search
Search criteria:
Gene:
CTNNB1
& Disease:
PCLD
, 12 results
Search
Reset
ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
1255553
CTNNB1
c.2317C>A
p.Gln773Lys (p.Q773K)
NM_001904.4
M
SNV
LB
2
+
0
1255552
CTNNB1
c.2189G>A
p.Gly730Asp (p.G730D)
NM_001904.4
M
SNV
LP
2
+
0
1255551
CTNNB1
c.1456C>T
p.Arg486Cys (p.R486C)
NM_001904.4
M
SNV
LP
2
+
0
1255553
CTNNB1
c.2317C>A
p.Gln773Lys (p.Q773K)
NM_001098209.2
SNV
LB
2
+
0
CTNNB1
c.2317C>A
p.Gln773Lys (p.Q773K)
NM_001098210.2
SNV
LB
2
+
0
CTNNB1
c.2296C>A
p.Gln766Lys (p.Q766K)
NM_001330729.2
SNV
LB
2
+
0
1255552
CTNNB1
c.2189G>A
p.Gly730Asp (p.G730D)
NM_001098209.2
SNV
LP
2
+
0
CTNNB1
c.2189G>A
p.Gly730Asp (p.G730D)
NM_001098210.2
SNV
LP
2
+
0
CTNNB1
c.2168G>A
p.Gly723Asp (p.G723D)
NM_001330729.2
SNV
LP
2
+
0
1255551
CTNNB1
c.1456C>T
p.Arg486Cys (p.R486C)
NM_001098209.2
SNV
LP
2
+
0
CTNNB1
c.1456C>T
p.Arg486Cys (p.R486C)
NM_001098210.2
SNV
LP
2
+
0
CTNNB1
c.1435C>T
p.Arg479Cys (p.R479C)
NM_001330729.2
SNV
LP
2
+
0
12 Results, 20 per Page
1
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