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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr4
5755542
C
A
EVC
c.1346C>A
p.Thr449Lys
rs2302075
chr4
5743512
T
C
EVC
c.772T>C
p.Tyr258His
rs6414624
chr4
5690902
T
C
EVC2
c.688A>G
p.Ser230Gly
rs4689278
chr4
5624670
T
C
EVC2
c.2095A>G
p.Thr699Ala
rs730469
chr3
129214292
A
G
IFT122
c.2203A>G
p.Arg735Gly
.
chr3
123457893
G
A
MYLK
c.439C>T
p.Pro147Ser
rs9840993
chr3
123453061
A
G
MYLK
c.782T>C
p.Val261Ala
rs3796164
chr3
123451773
G
C
MYLK
c.1486C>G
p.Leu496Val
rs9833275
chr3
123419733
A
G
MYLK
c.2582T>C
p.Leu861Pro
rs3732486
chr3
123419574
T
C
MYLK
c.2741A>G
p.Asp914Gly
rs544456463
chr3
123419573
G
T
MYLK
c.2742C>A
p.Asp914Glu
rs3732487
chr3
123419116
GTTC
G
MYLK
c.3196_3198delGAA
p.Glu1066del
rs372794395
chr3
119133183
G
A
ARHGAP31
c.2407G>A
p.Gly803Ser
rs3732413
chr3
58118555
G
A
FLNB
c.4504G>A
p.Val1502Met
rs12632456
chr3
58109162
G
A
FLNB
c.3469G>A
p.Asp1157Asn
rs1131356
chr3
24006477
T
A
NR1D2
c.1156T>A
p.Leu386Met
rs4858097
chr3
10106532
C
T
FANCD2
c.2141C>T
p.Pro714Leu
rs3864017
chr3
10088407
AG
A
FANCD2
c.1278+1delG
.
.
chr3
10088343
A
G
FANCD2
c.1214A>G
p.Asn405Ser
rs73126218
chr3
10088285
T
G
FANCD2
c.1156T>G
p.Phe386Val
rs149125003