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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr6
7567970
C
T
intron_variant
MODIFIER
DSP
c.1141-44C>T
chr6
7564139
C
G
intron_variant
MODIFIER
DSP
c.777+120C>G
chr6
7563983
T
G
synonymous_variant
LOW
DSP
c.741T>G
chr6
1612017
A
ACGG
disruptive_inframe_insertion
MODERATE
FOXC1
c.1359_1361dupCGG
chr6
1611802
G
GGGC
disruptive_inframe_insertion
MODERATE
FOXC1
c.1139_1141dupGCG
chr5
176639304
C
G
intron_variant
MODIFIER
NSD1
c.3796+108C>G
chr5
176639217
T
TA
intron_variant
MODIFIER
NSD1
c.3796+21_3796+22insA
chr5
176637576
T
C
missense_variant
MODERATE
NSD1
c.2176T>C
chr5
176637240
G
T
missense_variant
MODERATE
NSD1
c.1840G>T
chr5
176637149
G
A
synonymous_variant
LOW
NSD1
c.1749G>A
chr5
176636882
C
T
synonymous_variant
LOW
NSD1
c.1482C>T
chr5
176636546
G
A
intron_variant
MODIFIER
NSD1
c.1237-91G>A
chr5
172662024
T
C
synonymous_variant
LOW
NKX2-5
c.63A>G
chr5
172197581
G
C
splice_region_variant&intron_variant
LOW
DUSP1
c.367+8C>G
chr5
172196711
G
T
synonymous_variant
LOW
DUSP1
c.600C>A
chr5
156087348
C
T
intron_variant
MODIFIER
SGCD
c.575+12802C>T
chr5
156074654
TAAATTGA
T
intron_variant
MODIFIER
SGCD
c.575+109_575+115delAAATTGA
chr5
155820716
C
A
intron_variant
MODIFIER
SGCD
c.192+49029C>A
chr5
155771773
A
G
intron_variant
MODIFIER
SGCD
c.192+86A>G
chr5
155771579
T
C
synonymous_variant
LOW
SGCD
c.84T>C