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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr17
34854280
G
A
MYO19
c.2587C>T
p.Leu863Phe
rs2306590
chr17
17697101
AG
A
RAI1
c.840delG
p.Gln280fs
rs34083643
chr17
17697098
AGC
A
RAI1
c.837_838delGC
p.Gln280fs
rs35068024
chr17
17696755
C
A
RAI1
c.493C>A
p.Pro165Thr
rs11649804
chr16
88504868
A
G
ZNF469
c.10906A>G
p.Thr3636Ala
rs904783
chr16
88504850
G
C
ZNF469
c.10888G>C
p.Glu3630Gln
rs1105066
chr16
65022234
C
T
CDH11
c.825G>A
p.Met275Ile
rs1130821
chr15
100252709
CCAGCAG
C
MEF2A
c.1280_1285delAGCAGC
p.Gln427_Gln428del
rs3138597;rs58424802
chr15
90320120
GAGGGGCAGGGGCAAGGGCAGGGGC
G
MESP2
c.558_581delGGGGCAGGGGCAAGGGCAGGGGCA
p.Gly187_Gln194del
rs200021459
chr15
90294306
C
CACGGGGCTCGG
MESP1
c.156_157insCCGAGCCCCGT
p.Ala53fs
.
chr15
90294304
C
CG
MESP1
c.158dupC
p.Ser54fs
rs759335947
chr15
74473739
C
T
STRA6
c.1698G>A
p.Met566Ile
rs736118
chr15
49090175
G
A
CEP152
c.161C>T
p.Ser54Leu
rs2289181
chr15
48807637
C
T
FBN1
c.1415G>A
p.Cys472Tyr
rs4775765
chr15
23086364
GGCC
G
NIPA1
c.45_47delGGC
p.Ala16del
rs1356211578;rs531550505
chr14
102550803
G
A
HSP90AA1
c.1080C>T
.
rs4947
chr14
69376658
A
C
ACTN1
c.515+14T>G
.
rs743128
chr14
69376623
G
A
ACTN1
c.515+49C>T
.
rs3742891
chr14
69376199
A
T
ACTN1
c.516-86T>A
.
rs1983701
chr14
64612858
C
A
SYNE2
c.15556C>A
p.Leu5186Met
rs10151658