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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr3
9979616
C
T
intron_variant
MODIFIER
CRELD1
c.369-83C>T
chr3
9979233
C
A
intron_variant
MODIFIER
CRELD1
c.258-13C>A
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
8775661
C
T
synonymous_variant
LOW
CAV3
c.99C>T
chr2
240158254
G
A
intron_variant
MODIFIER
HDAC4
c.94+35C>T
chr2
240085403
C
A
intron_variant
MODIFIER
HDAC4
c.611+96G>T
chr2
240084053
T
A
intron_variant
MODIFIER
HDAC4
c.611+1446A>T
chr2
240083528
G
A
intron_variant
MODIFIER
HDAC4
c.611+1971C>T
chr2
240078488
C
G
intron_variant
MODIFIER
HDAC4
c.612-19G>C
chr2
240066417
A
G
splice_region_variant&intron_variant
LOW
HDAC4
c.734-7T>C
chr2
240061403
C
T
missense_variant
MODERATE
HDAC4
c.955G>A
chr2
240055901
G
A
intron_variant
MODIFIER
HDAC4
c.1294+40C>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
240003870
G
A
synonymous_variant
LOW
HDAC4
c.2565C>T
chr2
233410294
C
T
synonymous_variant
LOW
CHRNG
c.1422C>T
chr2
233408514
A
T
intron_variant
MODIFIER
CHRNG
c.1035+105A>T