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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:
TPM4
& Disease:
BDPLT25
, 15 results
Search
Reset
ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
2577545
TPM4
c.205C>T
p.Arg69Ter (p.R69X)
NM_003290.3
M
SNV
P
1
+
2
TPM4
c.313C>T
p.Arg105Ter (p.R105X)
NM_001145160.2
SNV
P
1
+
2
TPM4
c.265C>T
p.Arg89Ter (p.R89X)
NM_001367836.1
SNV
P
1
+
2
TPM4
c.205C>T
p.Arg69Ter (p.R69X)
NM_001367837.2
SNV
P
1
+
2
TPM4
c.196C>T
p.Arg66Ter (p.R66X)
NM_001367838.1
SNV
P
1
+
2
2577544
TPM4
c.322C>T
p.Gln108Ter (p.Q108X)
NM_003290.3
M
SNV
P
1
+
1
2577543
TPM4
c.436C>T
p.Arg146Cys (p.R146C)
NM_003290.3
M
SNV
P
1
+
1
2577544
TPM4
c.430C>T
p.Gln144Ter (p.Q144X)
NM_001145160.2
SNV
P
1
+
1
TPM4
c.382C>T
p.Gln128Ter (p.Q128X)
NM_001367836.1
SNV
P
1
+
1
TPM4
c.322C>T
p.Gln108Ter (p.Q108X)
NM_001367837.2
SNV
P
1
+
1
TPM4
c.313C>T
p.Gln105Ter (p.Q105X)
NM_001367838.1
SNV
P
1
+
1
2577543
TPM4
c.544C>T
p.Arg182Cys (p.R182C)
NM_001145160.2
SNV
P
1
+
1
TPM4
c.496C>T
p.Arg166Cys (p.R166C)
NM_001367836.1
SNV
P
1
+
1
TPM4
c.436C>T
p.Arg146Cys (p.R146C)
NM_001367837.2
SNV
P
1
+
1
TPM4
c.427C>T
p.Arg143Cys (p.R143C)
NM_001367838.1
SNV
P
1
+
1
15 Results, 20 per Page
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