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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:
PRIMPOL
& Disease:
MYP22
, 14 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
65424
PRIMPOL
c.265T>G
p.Tyr89Asp (p.Y89D)
NM_152683.4
M
SNV
P
1
+
1
PRIMPOL
c.-123T>G
--
NM_001300767.2
SNV
P
1
+
1
PRIMPOL
c.265T>G
p.Tyr89Asp (p.Y89D)
NM_001300768.2
SNV
P
1
+
1
PRIMPOL
c.265T>G
p.Tyr89Asp (p.Y89D)
NM_001345891.2
SNV
P
1
+
1
PRIMPOL
c.265T>G
p.Tyr89Asp (p.Y89D)
NM_001345892.2
SNV
P
1
+
1
PRIMPOL
c.265T>G
p.Tyr89Asp (p.Y89D)
NM_001345893.2
SNV
P
1
+
1
PRIMPOL
c.-302T>G
--
NM_001345894.2
SNV
P
1
+
1
PRIMPOL
c.265T>G
p.Tyr89Asp (p.Y89D)
NM_001345895.2
SNV
P
1
+
1
PRIMPOL
c.265T>G
p.Tyr89Asp (p.Y89D)
NM_001345896.2
SNV
P
1
+
1
PRIMPOL
c.-302T>G
--
NM_001345897.2
SNV
P
1
+
1
PRIMPOL
c.-302T>G
--
NM_001345898.2
SNV
P
1
+
1
PRIMPOL
c.265T>G
p.Tyr89Asp (p.Y89D)
NM_001345899.2
SNV
P
1
+
1
PRIMPOL
c.18T>G
p.Phe6Leu (p.F6L)
NM_001345900.2
SNV
P
1
+
1
PRIMPOL
c.-302T>G
--
NM_001345901.2
SNV
P
1
+
1
14 Results, 20 per Page
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