Page size
CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr2
202505740
T
A
intron_variant
MODIFIER
TMEM237
c.43-93A>T
chr2
202491995
G
A
intron_variant
MODIFIER
TMEM237
c.1037+49C>T
chr2
189974958
G
T
synonymous_variant
LOW
COL5A2
c.315C>A
chr2
189974794
G
A
intron_variant
MODIFIER
COL5A2
c.322+157C>T
chr2
189964970
T
A
intron_variant
MODIFIER
COL5A2
c.337-105A>T
chr2
189964891
A
G
intron_variant
MODIFIER
COL5A2
c.337-26T>C
chr2
189964747
G
T
intron_variant
MODIFIER
COL5A2
c.369+86C>A
chr2
189953551
G
A
intron_variant
MODIFIER
COL5A2
c.568-53C>T
chr2
189953508
C
T
intron_variant
MODIFIER
COL5A2
c.568-10G>A
chr2
189953285
A
AAATG
intron_variant
MODIFIER
COL5A2
c.645+135_645+136insCATT
chr2
189950556
G
A
intron_variant
MODIFIER
COL5A2
c.691-58C>T
chr2
189950069
G
A
intron_variant
MODIFIER
COL5A2
c.745-130C>T
chr2
189949787
G
T
intron_variant
MODIFIER
COL5A2
c.798+99C>A
chr2
189949786
T
A
intron_variant
MODIFIER
COL5A2
c.798+100A>T
chr2
189949759
C
T
intron_variant
MODIFIER
COL5A2
c.798+127G>A
chr2
189948696
G
A
intron_variant
MODIFIER
COL5A2
c.852+14C>T
chr2
189948651
G
T
intron_variant
MODIFIER
COL5A2
c.852+59C>A
chr2
189948549
T
C
intron_variant
MODIFIER
COL5A2
c.852+161A>G
chr2
189943121
GA
G
intron_variant
MODIFIER
COL5A2
c.1059+120delT
chr2
189936687
T
G
intron_variant
MODIFIER
COL5A2
c.1158+79A>C