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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr22
19375383
G
A
intron_variant
MODIFIER
HIRA
c.1008-44C>T
chr22
19349590
G
C
intron_variant
MODIFIER
HIRA
c.1776-136C>G
chr21
47545369
A
AC
intron_variant
MODIFIER
COL6A2
c.1817-10_1817-9insC
chr21
47545346
C
T
intron_variant
MODIFIER
COL6A2
c.1817-33C>T
chr21
47545155
A
G
intron_variant
MODIFIER
COL6A2
c.1771-25A>G
chr21
47544838
G
A
splice_region_variant&intron_variant
LOW
COL6A2
c.1770+4G>A
chr21
47544727
G
A
intron_variant
MODIFIER
COL6A2
c.1735-72G>A
chr21
47544451
GC
G
intron_variant
MODIFIER
COL6A2
c.1672-113delC
chr21
47542861
A
G
intron_variant
MODIFIER
COL6A2
c.1671+10A>G
chr21
47542654
G
GC
intron_variant
MODIFIER
COL6A2
c.1609-135_1609-134insC
chr21
47540421
T
C
splice_region_variant&intron_variant
LOW
COL6A2
c.1333-8T>C
chr21
47539790
A
G
intron_variant
MODIFIER
COL6A2
c.1332+26A>G
chr21
47539533
T
C
intron_variant
MODIFIER
COL6A2
c.1270-169T>C
chr21
47538960
G
A
missense_variant
MODERATE
COL6A2
c.1196G>A
chr21
47538691
G
T
intron_variant
MODIFIER
COL6A2
c.1179+101G>T
chr21
47537666
T
TG
intron_variant
MODIFIER
COL6A2
c.1054-122_1054-121insG
chr21
47536840
TAC
T
intron_variant
MODIFIER
COL6A2
c.999+113_999+114delAC
chr21
47536180
C
T
intron_variant
MODIFIER
COL6A2
c.901-111C>T
chr21
47532536
C
T
intron_variant
MODIFIER
COL6A2
c.714+45C>T
chr21
47423233
C
T
intron_variant
MODIFIER
COL6A1
c.2465-72C>T