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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr7
150645534
T
G
KCNH2
c.2690A>C
p.Lys897Thr
rs1805123
chr7
94043239
C
G
COL1A2
c.1645C>G
p.Pro549Ala
rs42524
chr7
73969541
A
G
GTF2IRD1
c.2050A>G
p.Met684Val
rs2301895
chr7
73814749
G
C
CLIP2
c.2930G>C
p.Arg977Pro
rs2522943
chr7
42088222
T
C
GLI3
c.547A>G
p.Thr183Ala
rs846266
chr7
42005678
G
A
GLI3
c.2993C>T
p.Pro998Leu
rs929387
chr7
27135314
C
T
HOXA1
c.218G>A
p.Arg73His
rs10951154
chr6
110107517
T
C
FIG4
c.1961T>C
p.Val654Ala
rs9885672
chr6
110064928
A
T
FIG4
c.1090A>T
p.Met364Leu
rs2295837
chr6
85473758
C
T
TBX18
c.142G>A
p.Gly48Arg
rs172562
chr6
7580958
A
G
DSP
c.4535A>G
p.Tyr1512Cys
rs2076299
chr6
7542148
C
CA
DSP
c.1dupA
p.Met1fs
rs17133512
chr6
1611802
G
GGGC
FOXC1
c.1139_1141dupGCG
p.Gly380dup
rs398123611
chr5
176637576
T
C
NSD1
c.2176T>C
p.Ser726Pro
rs28932178
chr5
176637240
G
T
NSD1
c.1840G>T
p.Val614Leu
rs3733875
chr5
140503531
C
T
PCDHB4
c.1951C>T
p.Arg651Cys
rs17844417
chr5
140503237
A
G
PCDHB4
c.1657A>G
p.Thr553Ala
rs246669
chr5
140502841
G
A
PCDHB4
c.1261G>A
p.Ala421Thr
rs3776099
chr5
127685135
C
T
FBN2
c.2893G>A
p.Val965Ile
rs154001
chr5
127622491
T
C
FBN2
c.6931A>G
p.Met2311Val
rs32209