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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr3
123457893
G
A
MYLK
c.439C>T
p.Pro147Ser
rs9840993
chr3
123451773
G
C
MYLK
c.1486C>G
p.Leu496Val
rs9833275
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
38640451
G
A
SCN5A
c.1981C>T
p.Arg661Trp
rs199473139
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
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
chr2
179644035
G
A
TTN
c.3884C>T
p.Ser1295Leu
rs1552280
chr2
179629461
C
T
TTN
c.9781G>A
p.Val3261Met
rs2291311
chr2
179623758
C
T
TTN
c.10256G>A
p.Ser3419Asn
rs2291310
chr2
179621477
C
T
TTN
c.10726G>A
p.Ala3576Thr
rs6433728
chr2
179620951
C
T
TTN
c.11252G>A
p.Gly3751Asp
rs7585334
chr2
179615931
C
G
TTN
c.11196G>C
p.Leu3732Phe
rs922985
chr2
179615887
T
C
TTN
c.11240A>G
p.Asp3747Gly
rs922984