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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr2
189936687
T
G
intron_variant
MODIFIER
COL5A2
c.1158+79A>C
chr2
189932831
T
C
synonymous_variant
LOW
COL5A2
c.1311A>G
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
189923401
T
C
intron_variant
MODIFIER
COL5A2
c.2131-148A>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
189907937
A
G
synonymous_variant
LOW
COL5A2
c.3411T>C
chr2
189904233
T
G
synonymous_variant
LOW
COL5A2
c.3690A>C
chr2
189901295
G
A
intron_variant
MODIFIER
COL5A2
c.4113+47C>T
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
189875421
T
G
missense_variant
MODERATE
COL3A1
c.4059T>G
chr2
189867205
G
A
intron_variant
MODIFIER
COL3A1
c.2445+128G>A
chr2
189866199
T
A
intron_variant
MODIFIER
COL3A1
c.2337+23T>A
chr2
189862203
C
T
intron_variant
MODIFIER
COL3A1
c.1869+88C>T
chr2
189855674
T
A
intron_variant
MODIFIER
COL3A1
c.799-56T>A