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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr7
27135314
C
T
missense_variant
HOXA1
c.218G>A
p.Arg73His
chr7
2552881
A
AGATG
frameshift_variant&stop_gained
LFNG
c.163_166dupGATG
p.Glu56fs
chr6
110064928
A
T
missense_variant
FIG4
c.1090A>T
p.Met364Leu
chr6
85473758
C
T
missense_variant
TBX18
c.142G>A
p.Gly48Arg
chr6
7581636
G
A
missense_variant
DSP
c.5213G>A
p.Arg1738Gln
chr6
1612017
A
ACGG
disruptive_inframe_insertion
FOXC1
c.1359_1361dupCGG
p.Gly454dup
chr6
1611802
G
GGGC
disruptive_inframe_insertion
FOXC1
c.1139_1141dupGCG
p.Gly380dup
chr5
176637576
T
C
missense_variant
NSD1
c.2176T>C
p.Ser726Pro
chr5
176637240
G
T
missense_variant
NSD1
c.1840G>T
p.Val614Leu
chr5
127685135
C
T
missense_variant
FBN2
c.2893G>A
p.Val965Ile
chr5
82835724
T
A
missense_variant
VCAN
c.6902T>A
p.Phe2301Tyr
chr5
82833584
C
A
missense_variant
VCAN
c.4762C>A
p.Pro1588Thr
chr5
82833369
A
G
missense_variant
VCAN
c.4547A>G
p.Lys1516Arg
chr5
37226961
G
A
missense_variant
C5orf42
c.1736C>T
p.Ala579Val
chr5
37182902
G
A
missense_variant
C5orf42
c.5381C>T
p.Pro1794Leu
chr5
37173930
A
C
missense_variant
C5orf42
c.6098T>G
p.Phe2033Cys
chr5
36985303
A
G
missense_variant
NIPBL
c.2021A>G
p.Asn674Ser
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