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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr5
140503531
C
T
missense_variant
PCDHB4
c.1951C>T
p.Arg651Cys
chr5
140503237
A
G
missense_variant
PCDHB4
c.1657A>G
p.Thr553Ala
chr5
140502841
G
A
missense_variant
PCDHB4
c.1261G>A
p.Ala421Thr
chr5
127685135
C
T
missense_variant
FBN2
c.2893G>A
p.Val965Ile
chr5
127622491
T
C
missense_variant
FBN2
c.6931A>G
p.Met2311Val
chr5
82837631
G
T
missense_variant
VCAN
c.8809G>T
p.Asp2937Tyr
chr5
82835724
T
A
missense_variant
VCAN
c.6902T>A
p.Phe2301Tyr
chr5
82834299
G
A
missense_variant
VCAN
c.5477G>A
p.Arg1826His
chr5
82833369
A
G
missense_variant
VCAN
c.4547A>G
p.Lys1516Arg
chr5
13944512
A
C
missense_variant
DNAH5
c.36T>G
p.His12Gln
chr5
13931340
C
T
missense_variant
DNAH5
c.71G>A
p.Gly24Glu
chr5
13902220
T
C
missense_variant
DNAH5
c.1672A>G
p.Thr558Ala
chr5
13865987
T
C
missense_variant
DNAH5
c.4145A>G
p.Tyr1382Cys
chr5
13811775
T
C
missense_variant
DNAH5
c.7388A>G
p.Gln2463Arg
chr5
13719089
G
A
missense_variant
DNAH5
c.12401C>T
p.Ala4134Val
chr5
13701536
T
C
missense_variant
DNAH5
c.13348A>G
p.Ile4450Val
chr4
5785442
G
A
missense_variant
EVC
c.1727G>A
p.Arg576Gln
chr4
5755542
C
A
missense_variant
EVC
c.1346C>A
p.Thr449Lys
chr4
5743512
T
C
missense_variant
EVC
c.772T>C
p.Tyr258His
chr4
5624670
T
C
missense_variant
EVC2
c.2095A>G
p.Thr699Ala