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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chrX
32503194
T
C
DMD
c.2645A>G
p.Asp882Gly
rs228406
chrX
32380996
C
T
DMD
c.5234G>A
p.Arg1745His
rs1801187
chrX
31496350
C
T
DMD
c.8810G>A
p.Arg2937Gln
rs1800280
chr22
41551039
T
A
EP300
c.3183T>A
.
rs20552
chr22
26166900
G
C
MYO18B
c.1641G>C
p.Trp547Cys
rs3859866
chr22
19907099
C
A
TXNRD2
c.196G>T
p.Ala66Ser
rs5748469
chr22
19868218
A
G
TXNRD2
c.1109T>C
p.Ile370Thr
rs1139793
chr22
19753444
G
A
TBX1
c.928G>A
p.Gly310Ser
rs41298838
chr22
19750773
T
C
TBX1
c.420T>C
.
rs41298814
chr22
19365286
T
C
HIRA
c.1613+106A>G
.
rs2285334
chr21
47407567
A
G
COL6A1
c.803A>G
p.Glu268Gly
rs745611394
chr21
44485350
G
A
CBS
c.699C>T
.
rs234706
chr21
35821821
T
C
KCNE1
c.112A>G
p.Ser38Gly
rs1805127
chr20
33583331
A
G
MYH7B
c.3019A>G
p.Lys1007Glu
rs2425015
chr20
31022959
T
C
ASXL1
c.2444T>C
p.Leu815Pro
rs6058694
chr19
49657889
T
TTCC
HRC
c.603_605dupGGA
p.Glu202dup
rs147238387;rs551367394;rs57199624
chr19
49657710
ACAT
A
HRC
c.782_784delATG
p.Asp261del
rs66501117
chr19
39025366
C
G
RYR1
c.11266C>G
p.Gln3756Glu
rs4802584
chr19
36336398
C
G
NPHS1
c.1802G>C
p.Gly601Ala
rs114615449
chr19
11358799
G
A
DOCK6
c.749C>T
p.Pro250Leu
rs12978266