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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr7
5569038
A
T
splice_region_variant&intron_variant
LOW
ACTB
c.124-7T>A
chr7
5568366
A
G
intron_variant
MODIFIER
ACTB
c.364-16T>C
chr7
5567596
C
T
intron_variant
MODIFIER
ACTB
c.984+39G>A
chr7
2552881
A
AGATG
frameshift_variant&stop_gained
HIGH
LFNG
c.163_166dupGATG
chr6
132168996
GGT
G
intron_variant
MODIFIER
ENPP1
c.313+9_313+10delGT
chr6
110146303
G
A
synonymous_variant
LOW
FIG4
c.2559G>A
chr6
110113763
CT
C
intron_variant
MODIFIER
FIG4
c.2377-21delT
chr6
110107517
T
C
missense_variant
MODERATE
FIG4
c.1961T>C
chr6
110106741
A
T
intron_variant
MODIFIER
FIG4
c.1948+510A>T
chr6
110106277
C
A
intron_variant
MODIFIER
FIG4
c.1948+46C>A
chr6
110064928
A
T
missense_variant
MODERATE
FIG4
c.1090A>T
chr6
110062873
T
G
intron_variant
MODIFIER
FIG4
c.876+126T>G
chr6
110059510
C
A
intron_variant
MODIFIER
FIG4
c.647-18C>A
chr6
110053824
G
GT
intron_variant
MODIFIER
FIG4
c.447-16_447-15insT
chr6
110048489
C
CT
intron_variant
MODIFIER
FIG4
c.446+21_446+22insT
chr6
85473758
C
T
missense_variant
MODERATE
TBX18
c.142G>A
chr6
85448103
C
T
intron_variant
MODIFIER
TBX18
c.1099+112G>A
chr6
55739553
A
G
synonymous_variant
LOW
BMP5
c.111T>C
chr6
55639028
G
A
synonymous_variant
LOW
BMP5
c.846C>T
chr6
55623948
A
C
intron_variant
MODIFIER
BMP5
c.1105-35T>G