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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr7
35289889
C
CA
intron_variant
MODIFIER
TBX20
c.128-75_128-74insT
chr7
35288458
CAG
C
splice_region_variant&intron_variant
LOW
TBX20
c.381-7_381-6delCT
chr7
35288276
T
C
intron_variant
MODIFIER
TBX20
c.545+13A>G
chr7
35288213
T
C
intron_variant
MODIFIER
TBX20
c.545+76A>G
chr7
35280693
C
T
intron_variant
MODIFIER
TBX20
c.655-44G>A
chr7
27135314
C
T
missense_variant
MODERATE
HOXA1
c.218G>A
chr7
5568366
A
G
intron_variant
MODIFIER
ACTB
c.364-16T>C
chr7
2566971
CGT
C
3_prime_UTR_variant
MODIFIER
LFNG
c.*140_*141delGT
chr7
2552986
A
C
intron_variant
MODIFIER
LFNG
c.219+24A>C
chr7
2552881
A
AGATG
frameshift_variant&stop_gained
HIGH
LFNG
c.163_166dupGATG
chr7
2552418
C
A
intron_variant
MODIFIER
LFNG
c.47+83C>A
chr7
2552381
G
A
intron_variant
MODIFIER
LFNG
c.47+46G>A
chr6
132168996
G
GGT
intron_variant
MODIFIER
ENPP1
c.313+8_313+9insGT
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
110053721
T
G
intron_variant
MODIFIER
FIG4
c.447-119T>G
chr6
110048489
C
CT
intron_variant
MODIFIER
FIG4
c.446+21_446+22insT
chr6
85473758
C
T
missense_variant
MODERATE
TBX18
c.142G>A