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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr2
189875421
T
G
missense_variant
MODERATE
COL3A1
c.4059T>G
chr2
189867844
T
A
intron_variant
MODIFIER
COL3A1
c.2553+56T>A
chr2
189866199
T
A
intron_variant
MODIFIER
COL3A1
c.2337+23T>A
chr2
189864080
G
A
missense_variant
MODERATE
COL3A1
c.2092G>A
chr2
189863389
C
T
intron_variant
MODIFIER
COL3A1
c.1978-11C>T
chr2
189862203
C
T
intron_variant
MODIFIER
COL3A1
c.1869+88C>T
chr2
189861031
T
TACACACACAC
intron_variant
MODIFIER
COL3A1
c.1663-93_1663-92insACACACACAC
chr2
189860975
AGT
A
intron_variant
MODIFIER
COL3A1
c.1662+72_1662+73delGT
chr2
189857993
T
C
intron_variant
MODIFIER
COL3A1
c.1051-94T>C
chr2
189849773
A
G
intron_variant
MODIFIER
COL3A1
c.282+85A>G
chr2
179669227
CTGGAG
C
intron_variant
MODIFIER
TTN
c.91+47_91+51delCTCCA
chr2
179667090
C
T
intron_variant
MODIFIER
TTN
c.92-22G>A
chr2
179660030
T
C
intron_variant
MODIFIER
TTN
c.915-51A>G
chr2
179659912
G
A
missense_variant
MODERATE
TTN
c.982C>T
chr2
179659334
A
C
intron_variant
MODIFIER
TTN
c.1246-56T>G
chr2
179656757
T
C
intron_variant
MODIFIER
TTN
c.1662+42A>G
chr2
179647902
G
T
intron_variant
MODIFIER
TTN
c.2842-111C>A
chr2
179647823
C
T
intron_variant
MODIFIER
TTN
c.2842-32G>A
chr2
179644304
G
A
intron_variant
MODIFIER
TTN
c.3730-115C>T
chr2
179644035
G
A
missense_variant
MODERATE
TTN
c.3884C>T