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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr3
10088343
A
G
FANCD2
c.1214A>G
p.Asn405Ser
rs73126218
chr3
10088285
T
G
FANCD2
c.1156T>G
p.Phe386Val
rs149125003
chr3
9976159
A
G
CRELD1
c.37A>G
p.Met13Val
rs279552
chr2
233127939
G
A
DIS3L2
c.1448G>A
p.Arg483Gln
rs148474013
chr2
189875421
T
G
COL3A1
c.4059T>G
p.His1353Gln
rs1516446
chr2
189864080
G
A
COL3A1
c.2092G>A
p.Ala698Thr
rs1800255
chr2
179659912
G
A
TTN
c.982C>T
p.Arg328Cys
rs16866538
chr2
179644035
G
A
TTN
c.3884C>T
p.Ser1295Leu
rs1552280
chr2
179639867
T
C
TTN
c.6571A>G
p.Met2191Val
.
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
179611219
C
T
TTN
c.15908G>A
p.Arg5303Lys
.
chr2
179606538
G
A
TTN
c.11422C>T
p.Pro3808Ser
rs2627037
chr2
179605476
A
G
TTN
c.12484T>C
p.Ser4162Pro
rs548726318
chr2
179593352
C
T
TTN
c.19301G>A
p.Ser6434Asn
rs11888217
chr2
179587130
C
G
TTN
c.22384G>C
p.Asp7462His
rs12693166
chr2
179583496
T
G
TTN
c.24431A>C
p.Glu8144Ala
rs16866465