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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:
FLNC
& Disease:
RCM
, 12 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
472122
FLNC
c.6031G>A
p.Gly2011Arg (p.G2011R)
NM_001458.5
M
SNV
P
4
+
3
FLNC
c.5932G>A
p.Gly1978Arg (p.G1978R)
NM_001127487.2
SNV
P
4
+
3
549663
FLNC
c.6893C>T
p.Pro2298Leu (p.P2298L)
NM_001458.5
M
SNV
P
4
+
1
549664
FLNC
c.7688A>G
p.Tyr2563Cys (p.Y2563C)
NM_001458.5
M
SNV
P
1
+
1
549663
FLNC
c.6794C>T
p.Pro2265Leu (p.P2265L)
NM_001127487.2
SNV
P
4
+
1
549664
FLNC
c.7589A>G
p.Tyr2530Cys (p.Y2530C)
NM_001127487.2
SNV
P
1
+
1
544829
FLNC
c.6892C>T
p.Pro2298Ser (p.P2298S)
NM_001458.5
M
SNV
LP
1
+
0
1027660
FLNC
c.4861A>T
p.Ile1621Phe (p.I1621F)
NM_001458.5
M
SNV
LP
1
+
0
1722580
FLNC
c.3551G>T
p.Gly1184Val (p.G1184V)
NM_001458.5
M
SNV
VUS
1
+
0
544829
FLNC
c.6793C>T
p.Pro2265Ser (p.P2265S)
NM_001127487.2
SNV
LP
1
+
0
1027660
FLNC
c.4861A>T
p.Ile1621Phe (p.I1621F)
NM_001127487.2
SNV
LP
1
+
0
1722580
FLNC
c.3551G>T
p.Gly1184Val (p.G1184V)
NM_001127487.2
SNV
VUS
1
+
0
12 Results, 20 per Page
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