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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chrX
44820454
A
G
intron_variant
MODIFIER
KDM6A
c.226-75A>G
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
15353689
T
C
upstream_gene_variant
MODIFIER
PIGA
c.-117A>G
chrX
15353483
G
C
intron_variant
MODIFIER
PIGA
c.-63+140C>G
chrX
15346560
A
T
intron_variant
MODIFIER
PIGA
c.716-2392T>A
chrX
15346485
T
C
intron_variant
MODIFIER
PIGA
c.716-2317A>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
13767718
A
G
intron_variant
MODIFIER
OFD1
c.935+66A>G
chrX
13758375
G
A
intron_variant
MODIFIER
OFD1
c.412+1224G>A
chr22
51150167
T
C
intron_variant
MODIFIER
SHANK3
c.2092+101T>C
chr22
51143309
G
C
intron_variant
MODIFIER
SHANK3
c.1854+19G>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