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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr20
42744587
G
C
synonymous_variant
LOW
JPH2
c.1728C>G
chr20
42744159
C
G
intron_variant
MODIFIER
JPH2
c.2010+146G>C
chr20
42743454
A
G
synonymous_variant
LOW
JPH2
c.2073T>C
chr20
31025231
T
C
3_prime_UTR_variant
MODIFIER
ASXL1
c.*90T>C
chr20
31025163
A
G
3_prime_UTR_variant
MODIFIER
ASXL1
c.*22A>G
chr20
31024274
T
C
synonymous_variant
LOW
ASXL1
c.3759T>C
chr20
31022959
T
C
missense_variant
MODERATE
ASXL1
c.2444T>C
chr20
31019024
C
T
intron_variant
MODIFIER
ASXL1
c.719-100C>T
chr20
30954295
A
G
intron_variant
MODIFIER
ASXL1
c.140+26A>G
chr20
10653603
C
A
missense_variant
MODERATE
JAG1
c.133G>T
chr20
10653469
C
T
synonymous_variant
LOW
JAG1
c.267G>A
chr20
10639543
G
A
intron_variant
MODIFIER
JAG1
c.440-173C>T
chr20
10633313
T
C
intron_variant
MODIFIER
JAG1
c.756-67A>G
chr20
10624930
A
T
intron_variant
MODIFIER
JAG1
c.2372+75T>A
chr20
10624928
A
T
intron_variant
MODIFIER
JAG1
c.2372+77T>A
chr20
10624924
TCA
T
intron_variant
MODIFIER
JAG1
c.2372+79_2372+80delTG
chr20
10623035
CT
C
intron_variant
MODIFIER
JAG1
c.2572+100delA
chr20
10622589
G
A
intron_variant
MODIFIER
JAG1
c.2573-49C>T
chr20
10620386
A
G
synonymous_variant
LOW
JAG1
c.3417T>C
chr20
10393145
C
G
intron_variant
MODIFIER
MKKS
c.985+33G>C