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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr21
44476759
A
G
intron_variant
MODIFIER
CBS
c.1552+154T>C
chr21
44475796
T
C
intron_variant
MODIFIER
CBS
c.1552+1117A>G
chr21
44475786
C
T
intron_variant
MODIFIER
CBS
c.1552+1127G>A
chr20
61049954
C
T
intron_variant
MODIFIER
GATA5
c.523+101G>A
chr20
61048549
G
A
synonymous_variant
LOW
GATA5
c.609C>T
chr20
61040951
C
T
synonymous_variant
LOW
GATA5
c.852G>A
chr20
61040453
C
G
synonymous_variant
LOW
GATA5
c.981G>C
chr20
61039958
T
C
synonymous_variant
LOW
GATA5
c.1128A>G
chr20
50408977
T
C
intron_variant
MODIFIER
SALL4
c.131-86A>G
chr20
50408482
A
G
synonymous_variant
LOW
SALL4
c.540T>C
chr20
50407502
A
C
missense_variant
MODERATE
SALL4
c.1520T>G
chr20
50407162
T
C
synonymous_variant
LOW
SALL4
c.1860A>G
chr20
45362616
G
A
3_prime_UTR_variant
MODIFIER
SLC2A10
c.*143G>A
chr20
45362523
T
C
3_prime_UTR_variant
MODIFIER
SLC2A10
c.*50T>C
chr20
45362502
C
G
3_prime_UTR_variant
MODIFIER
SLC2A10
c.*29C>G
chr20
45358524
C
T
intron_variant
MODIFIER
SLC2A10
c.1547+397C>T
chr20
45358350
G
T
intron_variant
MODIFIER
SLC2A10
c.1547+223G>T
chr20
45358264
GTTTTTTTTTTTTTTTTT
G
intron_variant
MODIFIER
SLC2A10
c.1547+138_1547+154delTTTTTTTTTTTTTTTTT
chr20
45358223
C
T
intron_variant
MODIFIER
SLC2A10
c.1547+96C>T
chr20
45358145
T
G
intron_variant
MODIFIER
SLC2A10
c.1547+18T>G