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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr2
189933686
G
A
intron_variant
MODIFIER
COL5A2
c.1159-76C>T
chr2
189932831
T
C
synonymous_variant
LOW
COL5A2
c.1311A>G
chr2
189928834
TG
T
intron_variant
MODIFIER
COL5A2
c.1717-76delC
chr2
189927506
C
G
intron_variant
MODIFIER
COL5A2
c.1977+85G>C
chr2
189925548
T
A
intron_variant
MODIFIER
COL5A2
c.2032-39A>T
chr2
189925313
G
C
intron_variant
MODIFIER
COL5A2
c.2085+143C>G
chr2
189923630
AT
A
intron_variant
MODIFIER
COL5A2
c.2086-12delA
chr2
189923434
A
C
intron_variant
MODIFIER
COL5A2
c.2130+141T>G
chr2
189923104
A
G
intron_variant
MODIFIER
COL5A2
c.2229+51T>C
chr2
189918787
C
T
intron_variant
MODIFIER
COL5A2
c.2445+98G>A
chr2
189910122
G
A
intron_variant
MODIFIER
COL5A2
c.3310-164C>T
chr2
189910066
ATG
A
intron_variant
MODIFIER
COL5A2
c.3310-110_3310-109delCA
chr2
189907937
A
G
synonymous_variant
LOW
COL5A2
c.3411T>C
chr2
189907272
T
C
intron_variant
MODIFIER
COL5A2
c.3525+174A>G
chr2
189904413
C
T
intron_variant
MODIFIER
COL5A2
c.3634-124G>A
chr2
189904233
T
G
synonymous_variant
LOW
COL5A2
c.3690A>C
chr2
189904203
A
G
synonymous_variant
LOW
COL5A2
c.3720T>C
chr2
189899572
T
C
intron_variant
MODIFIER
COL5A2
c.4353+70A>G
chr2
189899541
T
C
intron_variant
MODIFIER
COL5A2
c.4353+101A>G
chr2
189875695
T
G
intron_variant
MODIFIER
COL3A1
c.4254+79T>G