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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr20
45357878
A
G
intron_variant
MODIFIER
SLC2A10
c.1412-114A>G
chr20
44452771
A
G
splice_region_variant&intron_variant
LOW
TNNC2
c.315-5T>C
chr20
44451901
T
C
3_prime_UTR_variant
MODIFIER
TNNC2
c.*86A>G
chr20
44054349
T
C
synonymous_variant
LOW
PIGT
c.1620T>C
chr20
44053069
T
C
intron_variant
MODIFIER
PIGT
c.1400+48T>C
chr20
42815190
G
A
synonymous_variant
LOW
JPH2
c.156C>T
chr20
42814931
T
C
intron_variant
MODIFIER
JPH2
c.379+36A>G
chr20
42806429
A
T
3_prime_UTR_variant
MODIFIER
JPH2
c.*173T>A
chr20
42747247
C
T
missense_variant
MODERATE
JPH2
c.1186G>A
chr20
42745115
T
G
intron_variant
MODIFIER
JPH2
c.1289-89A>C
chr20
42744587
G
C
synonymous_variant
LOW
JPH2
c.1728C>G
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
30959704
A
G
intron_variant
MODIFIER
ASXL1
c.252+2778A>G
chr20
30954295
A
G
intron_variant
MODIFIER
ASXL1
c.140+26A>G
chr20
10653603
C
A
missense_variant
MODERATE
JAG1
c.133G>T