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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:
FGF10
& Disease:
LADD1
, 13 results
Search
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
1322898
FGF10
c.190G>T
p.Gly64Ter (p.G64X)
NM_004465.2
M
SNV
P
1
+
2
547372
FGF10
c.232del
p.Arg78fs (p.R78fs)
NM_004465.2
M
Del
LP
1
+
1
7534
FGF10
c.240A>C
p.Arg80Ser (p.R80S)
NM_004465.2
M
SNV
P
2
+
1
288912
FGF10
c.620A>C
p.His207Pro (p.H207P)
NM_004465.2
M
SNV
LB
2
+
0
547371
FGF10
c.1A>G
p.Met1Val (p.M1V)
NM_004465.2
M
SNV
LP
1
+
0
547373
FGF10
c.256del
p.Thr86fs (p.T86fs)
NM_004465.2
M
Del
LP
1
+
0
547374
FGF10
c.356del
p.Gly119fs (p.G119fs)
NM_004465.2
M
Del
LP
1
+
0
547375
FGF10
c.401T>A
p.Met134Lys (p.M134K)
NM_004465.2
M
SNV
LP
1
+
0
547376
FGF10
c.541A>C
p.Asn181His (p.N181H)
NM_004465.2
M
SNV
VUS
1
+
0
547377
FGF10
c.550G>A
p.Gly184Arg (p.G184R)
NM_004465.2
M
SNV
LP
1
+
0
353721
FGF10
c.624A>G
p.Ser208= (p.S208=)
NM_004465.2
M
SNV
LB
2
+
0
930542
FGF10
c.116C>A
p.Ala39Asp (p.A39D)
NM_004465.2
M
SNV
VUS
1
+
0
1801340
FGF10
c.374C>A
p.Ala125Asp (p.A125D)
NM_004465.2
M
SNV
LP
2
+
0
13 Results, 20 per Page
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