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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr3
58118700
A
G
FLNB
c.4607+42A>G
.
rs12638356
chr3
58089877
A
G
FLNB
c.1610+65A>G
.
rs1522386
chr3
58089585
T
A
FLNB
c.1484-101T>A
.
rs6445946
chr3
51978220
A
G
PARP3
c.320A>G
p.His107Arg
rs28547534
chr3
37368755
T
A
GOLGA4
c.5444T>A
p.Met1815Lys
rs62241896
chr3
37366459
C
A
GOLGA4
c.3148C>A
p.Gln1050Lys
rs11718848
chr3
24006477
T
A
NR1D2
c.1156T>A
p.Leu386Met
rs4858097
chr3
10088407
AG
A
FANCD2
c.1278+1delG
.
rs750338758
chr2
238244963
A
G
COL6A3
c.8780T>C
p.Met2927Thr
rs6728818
chr2
238243464
C
G
COL6A3
c.9034G>C
p.Ala3012Pro
rs2270669
chr2
238243292
G
A
COL6A3
c.9206C>T
p.Thr3069Ile
rs1131296
chr2
233194557
G
T
DIS3L2
c.1774G>T
p.Ala592Ser
rs183714146
chr2
223917983
T
G
KCNE4
c.588T>G
p.Asp196Glu
rs12621643
chr2
211163209
C
T
MYL1
c.239G>A
p.Arg80Gln
rs141590730
chr2
196799394
A
G
DNAH7
c.3392T>C
p.Ile1131Thr
rs76561342
chr2
179659912
G
A
TTN
c.982C>T
p.Arg328Cys
rs16866538
chr2
179644035
G
A
TTN
c.3884C>T
p.Ser1295Leu
rs1552280
chr2
179641975
C
T
TTN
c.4715G>A
p.Arg1572Gln
rs12476289
chr2
179637861
C
G
TTN
c.7830G>C
p.Met2610Ile
rs56142888
chr2
179634936
C
T
TTN
c.8492G>A
p.Ser2831Asn
rs2306636