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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr2
233408283
C
T
intron_variant
MODIFIER
CHRNG
c.921-12C>T
chr2
233408239
C
G
intron_variant
MODIFIER
CHRNG
c.921-56C>G
chr2
233408220
AG
A
intron_variant
MODIFIER
CHRNG
c.921-74delG
chr2
233408190
A
ACCC
intron_variant
MODIFIER
CHRNG
c.920+91_920+92insCCC
chr2
233404590
G
C
intron_variant
MODIFIER
CHRNG
c.55+78G>C
chr2
233404294
C
G
upstream_gene_variant
MODIFIER
CHRNG
c.-22C>G
chr2
233400074
A
G
3_prime_UTR_variant
MODIFIER
CHRND
c.*52A>G
chr2
233396375
T
C
intron_variant
MODIFIER
CHRND
c.1047+9T>C
chr2
233392020
A
AAAAGAG
intron_variant
MODIFIER
CHRND
c.199-91_199-90insAAAGAG
chr2
233391965
A
G
intron_variant
MODIFIER
CHRND
c.199-146A>G
chr2
233391303
C
G
missense_variant
MODERATE
CHRND
c.117C>G
chr2
233201328
A
G
synonymous_variant
LOW
DIS3L2
c.2646A>G
chr2
232888856
T
G
intron_variant
MODIFIER
DIS3L2
c.211-131T>G
chr2
203384776
C
CT
intron_variant
MODIFIER
BMPR2
c.853-34_853-33insT
chr2
202507982
T
C
intron_variant
MODIFIER
TMEM237
c.42+100A>G
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
189943121
GA
G
intron_variant
MODIFIER
COL5A2
c.1059+120delT