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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr2
158636910
G
A
synonymous_variant
LOW
ACVR1
c.270C>T
chr2
158626980
C
T
synonymous_variant
LOW
ACVR1
c.690G>A
chr2
145255387
T
C
intron_variant
MODIFIER
ZEB2
c.73+19458A>G
chr2
145155731
T
C
intron_variant
MODIFIER
ZEB2
c.2886+137A>G
chr2
85769246
G
A
intron_variant
MODIFIER
MAT2A
c.550-32G>A
chr2
85766591
C
T
intron_variant
MODIFIER
MAT2A
c.91+90C>T
chr2
74087298
A
G
intron_variant
MODIFIER
STAMBP
c.1218+20A>G
chr2
47301029
A
G
synonymous_variant
LOW
TTC7A
c.2616A>G
chr2
47277208
A
G
intron_variant
MODIFIER
TTC7A
c.2089+23A>G
chr2
47277207
C
A
intron_variant
MODIFIER
TTC7A
c.2089+22C>A
chr2
47251634
T
C
intron_variant
MODIFIER
TTC7A
c.1641+136T>C
chr2
47251555
G
T
intron_variant
MODIFIER
TTC7A
c.1641+57G>T
chr2
47168597
C
A
5_prime_UTR_variant
MODIFIER
TTC7A
c.-84C>A
chr2
44055527
T
C
intron_variant
MODIFIER
ABCG5
c.502-273A>G
chr2
44055446
G
A
intron_variant
MODIFIER
ABCG5
c.502-192C>T
chr2
39281730
G
C
intron_variant
MODIFIER
SOS1
c.720+25C>G
chr2
39251375
T
TCAC
intron_variant
MODIFIER
SOS1
c.1075-98_1075-97insGTG
chr2
39233500
G
A
intron_variant
MODIFIER
SOS1
c.2791+53C>T
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