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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr1
55505552
A
ACTG
disruptive_inframe_insertion
PCSK9
c.63_65dupGCT
p.Leu22dup
chr1
22207235
T
C
missense_variant
HSPG2
c.1915A>G
p.Met639Val
chr1
22206649
T
C
missense_variant
HSPG2
c.2297A>G
p.Asn766Ser
chr1
22191454
G
A
missense_variant
HSPG2
c.4511C>T
p.Ala1504Val
chr1
22165987
G
A
missense_variant
HSPG2
c.9769C>T
p.His3257Tyr
chr1
22150120
C
T
missense_variant
HSPG2
c.12995G>A
p.Ser4332Asn
chr1
5935162
A
T
splice_acceptor_variant&intron_variant
NPHP4
c.2818-2T>A
.
chr1
3328358
T
C
missense_variant
PRDM16
c.1597T>C
p.Ser533Pro
#CHR
POS
REF
ALT
Effect
Gene_Name
HGVS.c
HGVS.p
chrX
153640060
CT
C
5_prime_UTR_variant
MODIFIER
TAZ
c.-120delT
chrX
132888207
TA
T
splice_region_variant&intron_variant
LOW
GPC3
c.338-5delT
chrX
76940534
A
G
intron_variant
MODIFIER
ATRX
c.595-36T>C
chrX
76937963
G
C
missense_variant
MODERATE
ATRX
c.2785C>G
chrX
70352617
C
CCTCTT
intron_variant
MODIFIER
MED12
c.4416-78_4416-77insCTCTT
chrX
53449336
A
AG
intron_variant
MODIFIER
SMC1A
c.109+104_109+105insC
chrX
53436232
G
T
intron_variant
MODIFIER
SMC1A
c.1338-32C>A
chrX
47007061
C
CCTGTGCT
intron_variant
MODIFIER
RBM10
c.212+164_212+165insCTGTGCT
chrX
44935924
CTT
C
intron_variant
MODIFIER
KDM6A
c.2859-17_2859-16delTT
chrX
44929077
C
A
missense_variant
MODERATE
KDM6A
c.2333C>A
chrX
44833841
C
A
intron_variant
MODIFIER
KDM6A
c.335-70C>A