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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr20
61040453
C
G
synonymous_variant
LOW
GATA5
c.981G>C
chr20
61040313
G
T
intron_variant
MODIFIER
GATA5
c.1038+83C>A
chr20
61039958
T
C
synonymous_variant
LOW
GATA5
c.1128A>G
chr20
50408673
C
T
missense_variant
MODERATE
SALL4
c.349G>A
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
45354291
G
A
missense_variant
MODERATE
SLC2A10
c.616G>A
chr20
44452771
A
G
splice_region_variant&intron_variant
LOW
TNNC2
c.315-5T>C
chr20
44452697
C
A
synonymous_variant
LOW
TNNC2
c.384G>T
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
44052992
G
A
synonymous_variant
LOW
PIGT
c.1371G>A
chr20
44048065
C
CG
intron_variant
MODIFIER
PIGT
c.594+30_594+31insG
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
42747254
G
A
synonymous_variant
LOW
JPH2
c.1179C>T
chr20
42745115
T
G
intron_variant
MODIFIER
JPH2
c.1289-89A>C