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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr10
129859061
T
C
intron_variant
MODIFIER
PTPRE
c.512-142T>C
chr10
129854550
G
A
intron_variant
MODIFIER
PTPRE
c.511+73G>A
chr10
129854369
T
C
intron_variant
MODIFIER
PTPRE
c.421-18T>C
chr10
129846010
G
A
intron_variant
MODIFIER
PTPRE
c.210-18G>A
chr10
129845903
C
T
5_prime_UTR_variant
MODIFIER
PTPRE
c.-10C>T
chr10
129845547
A
C
intron_variant
MODIFIER
PTPRE
c.110-107A>C
chr10
129763277
C
T
intron_variant
MODIFIER
PTPRE
c.-30-17261C>T
chr10
126716346
C
T
5_prime_UTR_variant
MODIFIER
CTBP2
c.-18G>A
chr10
126714966
A
G
missense_variant
MODERATE
CTBP2
c.1363T>C
chr10
126714714
G
C
missense_variant
MODERATE
CTBP2
c.1615C>G
chr10
126686827
T
A
intron_variant
MODIFIER
CTBP2
c.1979-88A>T
chr10
126681688
T
C
intron_variant
MODIFIER
CTBP2
c.2659+83A>G
chr10
126681219
G
C
intron_variant
MODIFIER
CTBP2
c.2777+45C>G
chr10
126678147
C
T
synonymous_variant
LOW
CTBP2
c.2898G>A
chr10
123687282
G
C
intron_variant
MODIFIER
ATE1
c.106+77C>G
chr10
123683937
C
T
intron_variant
MODIFIER
ATE1
c.107-93G>A
chr10
123683660
A
G
intron_variant
MODIFIER
ATE1
c.170+121T>C
chr10
123673339
T
C
synonymous_variant
LOW
ATE1
c.303A>G
chr10
123596254
T
C
synonymous_variant
LOW
ATE1
c.1236A>G
chr10
123549691
T
G
synonymous_variant
LOW
ATE1
c.1371A>C