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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr9
94495608
T
C
missense_variant
ROR2
c.733A>G
p.Thr245Ala
chr9
94486321
C
T
missense_variant
ROR2
c.2455G>A
p.Val819Ile
chr8
100133706
T
G
stop_gained
VPS13B
c.1239T>G
p.Tyr413*
chr8
10583724
G
T
missense_variant
SOX7
c.691C>A
p.Pro231Thr
chr7
150696111
T
G
missense_variant
NOS3
c.894T>G
p.Asp298Glu
chr7
94043239
C
G
missense_variant
COL1A2
c.1645C>G
p.Pro549Ala
chr7
73969541
A
G
missense_variant
GTF2IRD1
c.2050A>G
p.Met684Val
chr7
73814749
G
C
missense_variant
CLIP2
c.2930G>C
p.Arg977Pro
chr7
55229255
G
A
missense_variant
EGFR
c.1562G>A
p.Arg521Lys
chr7
42088222
T
C
missense_variant
GLI3
c.547A>G
p.Thr183Ala
chr7
42005678
G
A
missense_variant
GLI3
c.2993C>T
p.Pro998Leu
chr7
27135314
C
T
missense_variant
HOXA1
c.218G>A
p.Arg73His
chr7
2552881
A
AGATG
frameshift_variant&stop_gained
LFNG
c.163_166dupGATG
p.Glu56fs
chr6
110107517
T
C
missense_variant
FIG4
c.1961T>C
p.Val654Ala
chr6
110064928
A
T
missense_variant
FIG4
c.1090A>T
p.Met364Leu
chr6
85473758
C
T
missense_variant
TBX18
c.142G>A
p.Gly48Arg
chr6
7581636
G
A
missense_variant
DSP
c.5213G>A
p.Arg1738Gln
chr6
7542148
C
CA
frameshift_variant&start_lost
DSP
c.1dupA
p.Met1fs
chr5
176637576
T
C
missense_variant
NSD1
c.2176T>C
p.Ser726Pro
chr5
176637240
G
T
missense_variant
NSD1
c.1840G>T
p.Val614Leu