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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr3
184103903
A
C
CHRD
c.1888A>C
p.Met630Leu
rs16858780
chr3
129195166
G
T
IFT122
c.978G>T
p.Lys326Asn
rs117517364
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
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
111286375
G
C
CD96
c.424G>C
p.Ala142Pro
rs2276872
chr3
58118555
G
A
FLNB
c.4504G>A
p.Val1502Met
rs12632456
chr3
58109162
G
A
FLNB
c.3469G>A
p.Asp1157Asn
rs1131356
chr3
38640519
C
T
SCN5A
c.1913G>A
p.Gly638Asp
rs199473578
chr3
24006477
T
A
NR1D2
c.1156T>A
p.Leu386Met
rs4858097
chr3
23996102
A
C
NR1D2
c.91A>C
p.Asn31His
.
chr3
10088407
AG
A
FANCD2
c.1278+1delG
.
.
chr3
10088343
A
G
FANCD2
c.1214A>G
p.Asn405Ser
rs73126218
chr3
9976159
A
G
CRELD1
c.37A>G
p.Met13Val
rs279552
chr2
189875421
T
G
COL3A1
c.4059T>G
p.His1353Gln
rs1516446
chr2
179659912
G
A
TTN
c.982C>T
p.Arg328Cys
rs16866538