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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr8
2048831
A
G
MYOM2
c.2606A>G
p.Asn869Ser
rs968381
chr8
2046700
C
T
MYOM2
c.2327C>T
p.Thr776Met
rs2294066
chr7
128488734
G
A
FLNC
c.4700G>A
p.Arg1567Gln
rs2291569
chr7
91714911
C
T
AKAP9
c.8935C>T
p.Pro2979Ser
rs1063242
chr7
91712698
A
G
AKAP9
c.8375A>G
p.Asn2792Ser
rs6960867
chr7
91652178
A
AAAC
AKAP9
c.4004_4006dupAAC
p.Lys1335_Leu1336insGln
rs10644111
chr7
55249063
G
A
EGFR
c.2361G>A
.
rs1050171
chr7
55229255
G
A
EGFR
c.1562G>A
p.Arg521Lys
rs2227983
chr7
21582964
A
T
DNAH11
c.101A>T
p.Glu34Val
rs2285944
chr7
21582963
G
T
DNAH11
c.100G>T
p.Glu34*
rs2285943
chr7
2552881
A
AGATG
LFNG
c.163_166dupGATG
p.Glu56fs
rs34637446;rs397694506;rs778766046
chr6
123851705
G
A
TRDN
c.430C>T
p.His144Tyr
rs79182520
chr6
123837327
CCTTTTT
C
TRDN
c.503_508delAAAAAG
p.Glu168_Lys169del
rs148596612
chr6
123687288
A
T
TRDN
c.1313T>A
p.Ile438Asn
rs2873479
chr6
112508770
G
T
LAMA4
c.848C>A
p.Ala283Glu
rs9400522
chr6
110053824
G
GT
FIG4
c.447-3dupT
.
rs11377100;rs398110541;rs570174858
chr6
33648228
C
T
ITPR3
c.4345+2C>T
.
rs2229638
chr5
176637576
T
C
NSD1
c.2176T>C
p.Ser726Pro
rs28932178
chr5
127685135
C
T
FBN2
c.2893G>A
p.Val965Ile
rs154001
chr5
127622491
T
C
FBN2
c.6931A>G
p.Met2311Val
rs32209