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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
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
chr5
94833169
C
G
TTC37
c.3587G>C
p.Trp1196Ser
.
chr5
82837631
G
T
VCAN
c.8809G>T
p.Asp2937Tyr
rs160277
chr5
82835724
T
A
VCAN
c.6902T>A
p.Phe2301Tyr
rs160278
chr5
82834299
G
A
VCAN
c.5477G>A
p.Arg1826His
rs188703
chr5
82833369
A
G
VCAN
c.4547A>G
p.Lys1516Arg
rs309559
chr5
82818072
C
T
VCAN
c.3947C>T
p.Thr1316Ile
.
chr5
82815408
G
A
VCAN
c.1283G>A
p.Gly428Asp
rs2287926
chr5
82808072
C
T
VCAN
c.899C>T
p.Ser300Leu
rs2652098
chr5
37227850
C
T
C5orf42
c.1191G>A
p.Met397Ile
rs573982253