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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr21
47423133
C
G
intron_variant
MODIFIER
COL6A1
c.2464+70C>G
chr21
47422679
G
A
intron_variant
MODIFIER
COL6A1
c.2434+55G>A
chr21
47422644
G
A
intron_variant
MODIFIER
COL6A1
c.2434+20G>A
chr21
47422639
A
G
intron_variant
MODIFIER
COL6A1
c.2434+15A>G
chr21
47422412
C
T
intron_variant
MODIFIER
COL6A1
c.2251-29C>T
chr21
47422394
C
T
intron_variant
MODIFIER
COL6A1
c.2251-47C>T
chr21
47421864
C
T
intron_variant
MODIFIER
COL6A1
c.1957-11C>T
chr21
47421797
G
A
intron_variant
MODIFIER
COL6A1
c.1957-78G>A
chr21
47421793
C
T
intron_variant
MODIFIER
COL6A1
c.1957-82C>T
chr21
47421315
C
T
intron_variant
MODIFIER
COL6A1
c.1956+15C>T
chr21
47420769
A
G
intron_variant
MODIFIER
COL6A1
c.1822+88A>G
chr21
47420761
G
A
intron_variant
MODIFIER
COL6A1
c.1822+80G>A
chr21
47420726
C
G
intron_variant
MODIFIER
COL6A1
c.1822+45C>G
chr21
47419770
G
A
intron_variant
MODIFIER
COL6A1
c.1776+164G>A
chr21
47419747
A
G
intron_variant
MODIFIER
COL6A1
c.1776+141A>G
chr21
47418728
C
CT
intron_variant
MODIFIER
COL6A1
c.1612-83_1612-82insT
chr21
47417975
A
G
intron_variant
MODIFIER
COL6A1
c.1525-60A>G
chr21
47417432
A
AG
intron_variant
MODIFIER
COL6A1
c.1461+35_1461+36insG
chr21
47417415
C
A
intron_variant
MODIFIER
COL6A1
c.1461+18C>A
chr21
47417303
T
C
intron_variant
MODIFIER
COL6A1
c.1399-32T>C