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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr10
88458996
TTCTCTC
T
intron_variant
MODIFIER
LDB3
c.1100+6669_1100+6674delTCTCTC
chr10
88445385
G
C
intron_variant
MODIFIER
LDB3
c.690-1441G>C
chr10
88440996
C
G
intron_variant
MODIFIER
LDB3
c.322-197C>G
chr10
88428335
T
C
splice_region_variant&intron_variant
LOW
LDB3
c.-24+8T>C
chr10
88426614
TC
T
upstream_gene_variant
MODIFIER
LDB3
c.-146delC
chr10
76781905
GGAA
G
inframe_deletion
MODERATE
KAT6B
c.3310_3312delGAA
chr10
76737014
T
C
intron_variant
MODIFIER
KAT6B
c.1994-60T>C
chr10
76729632
C
T
intron_variant
MODIFIER
KAT6B
c.846+99C>T
chr10
76719679
C
A
intron_variant
MODIFIER
KAT6B
c.622-49C>A
chr10
76429870
T
C
intron_variant
MODIFIER
ADK
c.878-71T>C
chr10
76158177
C
T
intron_variant
MODIFIER
ADK
c.447-52C>T
chr10
75874166
CGT
C
intron_variant
MODIFIER
VCL
c.3153+22_3153+23delGT
chr10
75871722
C
T
missense_variant
MODERATE
VCL
c.2801C>T
chr10
75855670
G
A
intron_variant
MODIFIER
VCL
c.1743+57G>A
chr10
75843100
T
A
intron_variant
MODIFIER
VCL
c.875-24T>A
chr10
75842152
G
A
intron_variant
MODIFIER
VCL
c.784-60G>A
chr10
75758153
C
A
intron_variant
MODIFIER
VCL
c.168+20C>A
chr10
73122468
G
T
3_prime_UTR_variant
MODIFIER
SLC29A3
c.*103G>T
chr10
73121945
T
C
synonymous_variant
LOW
SLC29A3
c.1008T>C
chr10
73121913
A
G
missense_variant
MODERATE
SLC29A3
c.976A>G