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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chrX
44929077
C
A
KDM6A
c.2333C>A
p.Thr778Lys
rs2230018
chr22
51117580
T
C
SHANK3
c.734T>C
p.Ile245Thr
rs9616915
chr22
20920813
A
ACAG
MED15
c.784_786dupCAG
p.Gln262dup
rs361923
chr21
47545768
G
A
COL6A2
c.2039G>A
p.Arg680His
rs1042917
chr21
47538960
G
A
COL6A2
c.1196G>A
p.Ser399Asn
rs2839110
chr20
31022959
T
C
ASXL1
c.2444T>C
p.Leu815Pro
rs6058694
chr20
6759115
A
T
BMP2
c.570A>T
p.Arg190Ser
rs235768
chr19
39994711
T
C
DLL3
c.653T>C
p.Leu218Pro
rs1110627
chr19
18980172
G
A
GDF1
c.353C>T
p.Ala118Val
rs4808863
chr19
18273047
T
C
PIK3R2
c.937T>C
p.Ser313Pro
rs1011320
chr19
11348960
G
A
DOCK6
c.1664C>T
p.Pro555Leu
rs12609039
chr19
8669931
G
C
ADAMTS10
c.401C>G
p.Thr134Ser
rs7255721
chr19
8645786
A
C
ADAMTS10
c.3303T>G
p.His1101Gln
rs7252299
chr18
59814324
G
C
PIGN
c.685C>G
p.His229Asp
rs9320001
chr18
59805532
T
C
PIGN
c.1117-1A>G
.
rs9959632
chr18
42532693
C
A
SETBP1
c.3388C>A
p.Pro1130Thr
rs1064204
chr18
42456670
C
CTCTT
SETBP1
c.681_682insTCTT
p.Thr228fs
rs3085861
chr18
42456653
G
A
SETBP1
c.664G>A
p.Ala222Thr
rs663651
chr17
39912145
T
A
JUP
c.2089A>T
p.Met697Leu
rs1126821
chr17
17697101
AG
A
RAI1
c.840delG
p.Gln280fs
rs34083643