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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:
MSH5
& Disease:
SPGF74
, 12 results
Search
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
1077005
MSH5
c.964C>T
p.Arg322Cys (p.R322C)
NM_172166.4
M
SNV
P
1
+
1
992890
MSH5
c.75dup
p.Ser26fs (p.S26fs)
NM_172166.4
M
Dup
P
1
+
1
992891
MSH5
c.1857del
p.Ala620fs (p.A620fs)
NM_172166.4
M
Del
P
1
+
1
1077005
MSH5
c.964C>T
p.Arg322Cys (p.R322C)
NM_002441.5
SNV
P
1
+
1
MSH5
c.1015C>T
p.Arg339Cys (p.R339C)
NM_025259.6
SNV
P
1
+
1
MSH5
c.964C>T
p.Arg322Cys (p.R322C)
NM_172165.4
SNV
P
1
+
1
992890
MSH5
c.75dup
p.Ser26fs (p.S26fs)
NM_172165.4
Dup
P
1
+
1
MSH5
c.75dup
p.Ser26fs (p.S26fs)
NM_002441.5
Dup
P
1
+
1
MSH5
c.75dup
p.Ser26fs (p.S26fs)
NM_025259.6
Dup
P
1
+
1
992891
MSH5
c.1857del
p.Ala620fs (p.A620fs)
NM_002441.5
Del
P
1
+
1
MSH5
c.1908del
p.Ala637fs (p.A637fs)
NM_025259.6
Del
P
1
+
1
MSH5
c.1857del
p.Ala620fs (p.A620fs)
NM_172165.4
Del
P
1
+
1
12 Results, 20 per Page
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