Page size
CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr10
129864515
C
T
intron_variant
MODIFIER
PTPRE
c.843+57C>T
chr10
129859992
T
C
intron_variant
MODIFIER
PTPRE
c.625+13T>C
chr10
129859065
T
C
intron_variant
MODIFIER
PTPRE
c.512-138T>C
chr10
129859061
T
C
intron_variant
MODIFIER
PTPRE
c.512-142T>C
chr10
129854414
A
T
missense_variant
MODERATE
PTPRE
c.448A>T
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
129845902
G
A
5_prime_UTR_variant
MODIFIER
PTPRE
c.-11G>A
chr10
129845547
A
C
intron_variant
MODIFIER
PTPRE
c.110-107A>C
chr10
129839193
C
T
synonymous_variant
LOW
PTPRE
c.48C>T
chr10
126716346
C
T
5_prime_UTR_variant
MODIFIER
CTBP2
c.-18G>A
chr10
126715462
C
A
synonymous_variant
LOW
CTBP2
c.867G>T
chr10
126714966
A
G
missense_variant
MODERATE
CTBP2
c.1363T>C
chr10
126714714
G
C
missense_variant
MODERATE
CTBP2
c.1615C>G
chr10
126714591
C
T
intron_variant
MODIFIER
CTBP2
c.1678+60G>A
chr10
126691483
C
A
intron_variant
MODIFIER
CTBP2
c.1978+46G>T
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
126678177
G
T
missense_variant
MODERATE
CTBP2
c.2868C>A