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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr5
140503237
A
G
PCDHB4
c.1657A>G
p.Thr553Ala
rs246669
chr5
140502344
C
T
PCDHB4
c.764C>T
p.Pro255Leu
rs3733697
chr5
140502343
C
T
PCDHB4
c.763C>T
p.Pro255Ser
rs3733698
chr5
127800515
A
G
FBN2
c.728T>C
p.Ile243Thr
rs117524265
chr5
127685135
C
T
FBN2
c.2893G>A
p.Val965Ile
rs154001
chr5
127622491
T
C
FBN2
c.6931A>G
p.Met2311Val
rs32209
chr5
94860194
G
C
TTC37
c.1427C>G
p.Thr476Arg
rs148648401
chr5
82815408
G
A
VCAN
c.1283G>A
p.Gly428Asp
rs2287926
chr5
37173930
A
C
C5orf42
c.6098T>G
p.Phe2033Cys
rs10076911
chr5
36985303
A
G
NIPBL
c.2021A>G
p.Asn674Ser
rs3822471
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
chr5
13894894
T
A
DNAH5
c.2296A>T
p.Ile766Leu
rs4701997
chr5
13811775
T
C
DNAH5
c.7388A>G
p.Gln2463Arg
rs10078391
chr5
13788886
C
A
DNAH5
c.8586G>T
p.Leu2862Phe
rs10513155
chr5
13719089
G
A
DNAH5
c.12401C>T
p.Ala4134Val
rs30168
chr5
13717471
T
C
DNAH5
c.12658A>G
p.Thr4220Ala
rs2277046
chr5
13701536
T
C
DNAH5
c.13348A>G
p.Ile4450Val
rs3734110
chr4
170398454
T
C
NEK1
c.2255A>G
p.Glu752Gly
rs34099167