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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr3
10088242
G
A
intron_variant
MODIFIER
FANCD2
c.1135-22G>A
chr3
10088239
G
A
intron_variant
MODIFIER
FANCD2
c.1135-25G>A
chr3
10088223
T
G
intron_variant
MODIFIER
FANCD2
c.1135-41T>G
chr3
10085035
G
T
intron_variant
MODIFIER
FANCD2
c.990-133G>T
chr3
9976159
A
G
missense_variant
MODERATE
CRELD1
c.37A>G
chr3
9975386
C
G
upstream_gene_variant
MODIFIER
CRELD1
c.-100C>G
chr3
9975353
A
G
upstream_gene_variant
MODIFIER
CRELD1
c.-100A>G
chr3
8784046
C
CA
intron_variant
MODIFIER
CAV3
c.115-3166_115-3165insA
chr3
8775661
C
T
synonymous_variant
LOW
CAV3
c.99C>T
chr2
240085403
C
A
intron_variant
MODIFIER
HDAC4
c.611+96G>T
chr2
240066526
T
C
intron_variant
MODIFIER
HDAC4
c.734-116A>G
chr2
240066417
A
G
splice_region_variant&intron_variant
LOW
HDAC4
c.734-7T>C
chr2
240055901
G
A
intron_variant
MODIFIER
HDAC4
c.1294+40C>T
chr2
240048290
G
A
synonymous_variant
LOW
HDAC4
c.1380C>T
chr2
240033428
G
A
intron_variant
MODIFIER
HDAC4
c.1777-20C>T
chr2
240029736
T
C
intron_variant
MODIFIER
HDAC4
c.2097+10A>G
chr2
240016824
A
G
intron_variant
MODIFIER
HDAC4
c.2219-72T>C
chr2
240016771
C
T
intron_variant
MODIFIER
HDAC4
c.2219-19G>A
chr2
240011717
T
C
synonymous_variant
LOW
HDAC4
c.2361A>G
chr2
240009199
G
A
intron_variant
MODIFIER
HDAC4
c.2429+56C>T