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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
Search
Search criteria:
Gene:
SLCO2A1
& Disease:
PHOAD
, 8 results
Search
Reset
ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
225477
SLCO2A1
c.1807C>T
p.Arg603Ter (p.R603X)
NM_005630.3
M
SNV
P
3
+
7
438675
SLCO2A1
c.664G>A
p.Gly222Arg (p.G222R)
NM_005630.3
M
SNV
P
3
+
6
37171
SLCO2A1
c.310G>T
p.Gly104Ter (p.G104X)
NM_005630.3
M
SNV
P
3
+
5
1174120
SLCO2A1
c.861+2T>C
--
NM_005630.3
M
SNV
P
1
+
2
1174124
SLCO2A1
c.1660G>A
p.Gly554Arg (p.G554R)
NM_005630.3
M
SNV
P
3
+
2
1174121
SLCO2A1
c.302T>G
p.Ile101Ser (p.I101S)
NM_005630.3
M
SNV
P
1
+
1
1290037
SLCO2A1
c.234+45G>C
--
NM_005630.3
M
SNV
B
3
+
0
1175126
SLCO2A1
c.397+10T>C
--
NM_005630.3
M
SNV
B
3
+
0
8 Results, 20 per Page
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