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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr10
90749256
G
A
intron_variant
MODIFIER
ACTA2
c.-24+1440C>T
chr10
88684973
T
C
downstream_gene_variant
MODIFIER
BMPR1A
c.*2147T>C
chr10
88684422
A
G
3_prime_UTR_variant
MODIFIER
BMPR1A
c.*946A>G
chr10
88683890
T
A
3_prime_UTR_variant
MODIFIER
BMPR1A
c.*414T>A
chr10
88458996
TTC
T
intron_variant
MODIFIER
LDB3
c.1100+6669_1100+6670delTC
chr10
88451869
G
C
intron_variant
MODIFIER
LDB3
c.1063+47G>C
chr10
88445385
G
C
intron_variant
MODIFIER
LDB3
c.690-1441G>C
chr10
76781905
GGAA
G
inframe_deletion
MODERATE
KAT6B
c.3310_3312delGAA
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
75874166
CGT
C
intron_variant
MODIFIER
VCL
c.3153+22_3153+23delGT
chr10
75867074
G
C
missense_variant
MODERATE
VCL
c.2521G>C
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
73121945
T
C
synonymous_variant
LOW
SLC29A3
c.1008T>C
chr10
73121913
A
G
missense_variant
MODERATE
SLC29A3
c.976A>G
chr10
73121645
C
A
intron_variant
MODIFIER
SLC29A3
c.774-66C>A
chr10
73115942
G
A
missense_variant
MODERATE
SLC29A3
c.715G>A
chr10
73115941
T
C
synonymous_variant
LOW
SLC29A3
c.714T>C