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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr11
128781339
T
C
synonymous_variant
LOW
KCNJ5
c.171T>C
chr11
128355859
T
C
intron_variant
MODIFIER
ETS1
c.613+105A>G
chr11
128333503
T
C
synonymous_variant
LOW
ETS1
c.1143A>G
chr11
123504959
C
G
intron_variant
MODIFIER
SCN3B
c.585-45G>C
chr11
119179007
T
C
downstream_gene_variant
MODIFIER
CBL
c.*2863T>C
chr11
119148573
G
T
intron_variant
MODIFIER
CBL
c.1095+19G>T
chr11
119146659
G
C
intron_variant
MODIFIER
CBL
c.870-48G>C
chr11
119144791
CT
C
intron_variant
MODIFIER
CBL
c.747+58delT
chr11
95550841
C
T
intron_variant
MODIFIER
CEP57
c.505-110C>T
chr11
95528891
G
T
intron_variant
MODIFIER
CEP57
c.46-3505G>T
chr11
95528663
C
CT
intron_variant
MODIFIER
CEP57
c.46-3733_46-3732insT
chr11
71155171
C
T
synonymous_variant
LOW
DHCR7
c.189G>A
chr11
71155153
A
G
synonymous_variant
LOW
DHCR7
c.207T>C
chr11
71153459
C
A
intron_variant
MODIFIER
DHCR7
c.322-60G>T
chr11
71152461
A
G
synonymous_variant
LOW
DHCR7
c.438T>C
chr11
71149069
A
G
intron_variant
MODIFIER
DHCR7
c.832-80T>C
chr11
71146952
G
A
intron_variant
MODIFIER
DHCR7
c.964-67C>T
chr11
71146691
A
G
synonymous_variant
LOW
DHCR7
c.1158T>C
chr11
71146577
G
A
synonymous_variant
LOW
DHCR7
c.1272C>T
chr11
66138894
G
C
intron_variant
MODIFIER
SLC29A2
c.30-98C>G