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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chrX
39934488
C
T
intron_variant
MODIFIER
BCOR
c.166-55G>A
chrX
39933339
A
G
synonymous_variant
LOW
BCOR
c.1260T>C
chrX
39932907
T
C
synonymous_variant
LOW
BCOR
c.1692A>G
chrX
39922359
A
G
intron_variant
MODIFIER
BCOR
c.3848-35T>C
chrX
20204548
TA
T
intron_variant
MODIFIER
RPS6KA3
c.775-65delT
chrX
15353689
T
C
upstream_gene_variant
MODIFIER
PIGA
c.-117A>G
chrX
13779409
A
AT
intron_variant
MODIFIER
OFD1
c.2387+79_2387+80insT
chrX
13779124
G
A
intron_variant
MODIFIER
OFD1
c.2261-80G>A
chrX
13775752
AT
A
intron_variant
MODIFIER
OFD1
c.1412-26delT
chrX
13771576
A
G
intron_variant
MODIFIER
OFD1
c.1129+16A>G
chrX
13769593
GA
G
intron_variant
MODIFIER
OFD1
c.1055+107delA
chrX
13767718
A
G
intron_variant
MODIFIER
OFD1
c.935+66A>G
chrX
13758375
G
A
intron_variant
MODIFIER
OFD1
c.412+1224G>A
chr22
51160707
G
A
synonymous_variant
LOW
SHANK3
c.4404G>A
chr22
51158499
T
G
intron_variant
MODIFIER
SHANK3
c.2309-113T>G
chr22
51150167
T
C
intron_variant
MODIFIER
SHANK3
c.2092+101T>C
chr22
51137249
T
C
intron_variant
MODIFIER
SHANK3
c.1570+18T>C
chr22
51137094
G
A
intron_variant
MODIFIER
SHANK3
c.1457-24G>A
chr22
51135595
A
T
intron_variant
MODIFIER
SHANK3
c.1305-397A>T
chr22
51135545
T
C
intron_variant
MODIFIER
SHANK3
c.1305-447T>C