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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr2
39224615
G
GT
intron_variant
MODIFIER
SOS1
c.2792-50_2792-49insA
chr2
39224351
G
T
intron_variant
MODIFIER
SOS1
c.2964+43C>A
chr2
39214821
A
C
intron_variant
MODIFIER
SOS1
c.3392-89T>G
chr2
11389814
G
A
synonymous_variant
LOW
ROCK2
c.435C>T
chr2
11359120
G
T
missense_variant
MODERATE
ROCK2
c.1292C>A
chr2
11359031
G
T
intron_variant
MODIFIER
ROCK2
c.1320+61C>A
chr2
11356190
G
A
intron_variant
MODIFIER
ROCK2
c.1461+94C>T
chr2
11348609
CAAAT
C
intron_variant
MODIFIER
ROCK2
c.2204-40_2204-37delATTT
chr2
11348364
C
CTAACT
intron_variant
MODIFIER
ROCK2
c.2364+48_2364+49insAGTTA
chr1
240070603
T
C
intron_variant
MODIFIER
CHRM3
c.-19-130T>C
chr1
236925844
G
A
synonymous_variant
LOW
ACTN2
c.2610G>A
chr1
236924506
A
G
intron_variant
MODIFIER
ACTN2
c.2526+33A>G
chr1
236914610
G
C
intron_variant
MODIFIER
ACTN2
c.1657-160G>C
chr1
236912286
G
A
intron_variant
MODIFIER
ACTN2
c.1516-138G>A
chr1
236910863
T
C
intron_variant
MODIFIER
ACTN2
c.1407-104T>C
chr1
236902955
T
C
intron_variant
MODIFIER
ACTN2
c.1107+123T>C
chr1
236902865
A
C
intron_variant
MODIFIER
ACTN2
c.1107+33A>C
chr1
236902594
C
G
splice_region_variant&intron_variant
LOW
ACTN2
c.877-8C>G
chr1
236902560
C
T
intron_variant
MODIFIER
ACTN2
c.877-42C>T
chr1
236900598
C
T
intron_variant
MODIFIER
ACTN2
c.876+84C>T