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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:
LAGE3
& Disease:
GAMOS2
, 9 results
Search
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
444872
LAGE3
c.410T>C
p.Phe137Ser (p.F137S)
NM_006014.5
M
SNV
P
1
+
2
721916
LAGE3
c.362T>C
p.Ile121Thr (p.I121T)
NM_006014.5
M
SNV
LB
1
+
2
1319855
LAGE3
c.29G>A
p.Gly10Glu (p.G10E)
NM_006014.5
M
SNV
VUS
1
+
1
1235001
LAGE3
c.*19G>C
--
NM_006014.5
M
SNV
B
1
+
1
444873
LAGE3
c.188+1G>A
--
NM_006014.5
M
SNV
P
1
+
1
444871
LAGE3
c.316G>T
p.Val106Phe (p.V106F)
NM_006014.5
M
SNV
P
1
+
1
2574042
LAGE3
c.2T>G
p.Met1Arg (p.M1R)
NM_006014.5
M
SNV
VUS
1
+
1
1325579
LAGE3
c.287A>T
p.Asp96Val (p.D96V)
NM_006014.5
M
SNV
VUS
1
+
0
2573023
LAGE3
c.189-2A>G
--
NM_006014.5
M
SNV
VUS
1
+
0
9 Results, 20 per Page
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