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Gene Mutations
Records Return:
(31)
Show
5
10
20
50
100
200
500
1
2
Gene
Gene Omim Number
Disease Omim Number
Chromosome Location
Gene Mutation
Allelic Variant
Omim Phenotype
Sample Count
OTC
300461
311250
Xp21.1
36 A>T, LEU301PHE
OTC Deficiency
1
OTC
300461
311250
Xp21.1
ALA135GLU
OTC DEFICIENCY
1
OTC
300461
311250
Xp21.1
ALA208THR
OTC DEFICIENCY
2
OTC
300461
311250
Xp21.1
ARG141GLN
OTC DEFICIENCY
2
OTC
300461
311250
Xp21.1
ARG23TER
OTC DEFICIENCY
1
OTC
300461
311250
Xp21.1
ARG26GLN
0008
OTC DEFICIENCY
2
OTC
300461
311250
Xp21.1
ARG277TRP
0014
OTC DEFICIENCY
6
OTC
300461
311250
Xp21.1
ARG320TER
OTC DEFICIENCY
2
OTC
300461
311250
Xp21.1
ARG40HIS
0029
OTC DEFICIENCY
2
OTC
300461
311250
Xp21.1
ARG92GLN
OTC DEFICIENCY
4
OTC
300461
311250
Xp21.1
ARG92TER
OTC DEFICIENCY
1
OTC
300461
311250
Xp21.1
ASP175VAL
OTC DEFICIENCY
1
OTC
300461
311250
Xp21.1
ASP196VAL
OTC DEFICIENCY
1
OTC
300461
311250
Xp21.1
c.200C>T (p.Pro67Leu)
OTC DEFICIENCY
1
OTC
300461
311250
Xp21.1
c.245T>A (p.L82X)
OTC DEFICIENCY
1
OTC
300461
300461
Xp21.1
c.472dupT
OTC DEFICIENCY
2
OTC
300461
311250
Xp21.1
c.77+1G>T
OTC DEFICIENCY
1
OTC
300461
311250
Xp21.1
EX2 DEL
OTC DEFICIENCY
2
OTC
300461
311250
Xp21.1
EX5 DEL
OTC DEFICIENCY
1
OTC
300461
311250
Xp21.1
exon 3 dup
OTC DEFICIENCY
1