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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:
FITM2
& Disease:
SIDDIS
, 6 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
692229
FITM2
c.4G>T
p.Glu2Ter (p.E2X)
NM_001080472.4
M
SNV
P
1
+
1
692230
FITM2
c.39dup
p.Thr14fs (p.T14fs)
NM_001080472.4
M
Dup
P
1
+
1
692231
FITM2
c.652C>T
p.Gln218Ter (p.Q218X)
NM_001080472.4
M
SNV
P
1
+
1
692232
FITM2
c.694G>A
p.Gly232Arg (p.G232R)
NM_001080472.4
M
SNV
P
1
+
1
2441926
FITM2
c.1A>T
p.Met1Leu (p.M1L)
NM_001080472.4
M
SNV
LP
1
+
1
2441981
FITM2
c.576del
p.Val193fs (p.V193fs)
NM_001080472.4
M
Del
LP
1
+
1
6 Results, 20 per Page
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