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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr2
167144995
T
C
synonymous_variant
LOW
SCN9A
c.1266A>G
chr2
167144974
A
T
synonymous_variant
LOW
SCN9A
c.1287T>A
chr2
167099158
A
G
missense_variant
MODERATE
SCN9A
c.3448T>C
chr2
167060980
GAAAC
G
splice_region_variant&intron_variant
LOW
SCN9A
c.4366-10_4366-7delGTTT
chr2
158655883
C
CAA
intron_variant
MODIFIER
ACVR1
c.67+55_67+56insTT
chr2
158655883
C
CA
intron_variant
MODIFIER
ACVR1
c.67+55_67+56insT
chr2
158637137
A
G
intron_variant
MODIFIER
ACVR1
c.68-25T>C
chr2
158636910
G
A
synonymous_variant
LOW
ACVR1
c.270C>T
chr2
158630811
G
A
intron_variant
MODIFIER
ACVR1
c.544-112C>T
chr2
158626980
C
T
synonymous_variant
LOW
ACVR1
c.690G>A
chr2
158594060
A
G
synonymous_variant
LOW
ACVR1
c.1513T>C
chr2
145255210
T
C
intron_variant
MODIFIER
ZEB2
c.73+19635A>G
chr2
145222038
A
G
intron_variant
MODIFIER
ZEB2
c.74-34445T>C
chr2
145155731
T
C
intron_variant
MODIFIER
ZEB2
c.2886+137A>G
chr2
85769975
A
G
intron_variant
MODIFIER
MAT2A
c.952-49A>G
chr2
85769711
C
G
synonymous_variant
LOW
MAT2A
c.792C>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
85766545
C
T
intron_variant
MODIFIER
MAT2A
c.91+44C>T
chr2
74087298
A
G
intron_variant
MODIFIER
STAMBP
c.1218+20A>G