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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr7
2552881
AGATG
AGATGGATG
LFNG
c.163_166dupGATG
p.Glu56fs
rs61564232
chr7
2552881
AGATG
A
LFNG
c.163_166delGATG
p.Asp55fs
rs61564232
chr6
110107517
T
C
FIG4
c.1961T>C
p.Val654Ala
rs9885672
chr6
110064928
A
T
FIG4
c.1090A>T
p.Met364Leu
rs2295837
chr6
7542148
C
CA
DSP
c.1dupA
p.Met1fs
rs17133512
chr6
1612025
G
GGCA
FOXC1
c.1347_1348insAGC
p.Gly449_Gly450insSer
.
chr6
1611802
G
GGGC
FOXC1
c.1139_1141dupGCG
p.Gly380dup
rs398123611
chr5
172197625
G
T
DUSP1
c.331C>A
p.Arg111Ser
rs552467759
chr5
140502733
C
T
PCDHB4
c.1153C>T
p.Pro385Ser
rs17844411
chr5
127685135
C
T
FBN2
c.2893G>A
p.Val965Ile
rs154001
chr5
127622491
T
C
FBN2
c.6931A>G
p.Met2311Val
rs32209
chr5
94861118
G
C
TTC37
c.1309C>G
p.Leu437Val
rs17084873
chr5
94826655
C
A
TTC37
c.3888G>T
p.Arg1296Ser
rs2303650
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
13944512
A
C
DNAH5
c.36T>G
p.His12Gln
rs339445
chr5
13931340
C
T
DNAH5
c.71G>A
p.Gly24Glu
rs1530496
chr5
13902220
T
C
DNAH5
c.1672A>G
p.Thr558Ala
rs1530498