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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr1
3328358
T
C
missense_variant
PRDM16
c.1597T>C
p.Ser533Pro
#CHR
POS
REF
ALT
Effect
Gene_Name
HGVS.c
HGVS.p
chrX
153599180
A
G
intron_variant
MODIFIER
FLNA
c.373+61T>C
chrX
153595259
G
A
intron_variant
MODIFIER
FLNA
c.869-41C>T
chrX
153595246
G
C
intron_variant
MODIFIER
FLNA
c.869-28C>G
chrX
153592314
AC
A
intron_variant
MODIFIER
FLNA
c.2280+75delG
chrX
153579448
A
G
intron_variant
MODIFIER
FLNA
c.7024-39T>C
chrX
153200020
G
C
intron_variant
MODIFIER
NAA10
c.22-92C>G
chrX
153196429
C
A
intron_variant
MODIFIER
NAA10
c.387-129G>T
chrX
153196345
G
A
intron_variant
MODIFIER
NAA10
c.387-45C>T
chrX
153195393
G
A
3_prime_UTR_variant
MODIFIER
NAA10
c.*47C>T
chrX
132888207
TA
T
splice_region_variant&intron_variant
LOW
GPC3
c.338-5delT
chrX
70352617
C
CCTCTT
intron_variant
MODIFIER
MED12
c.4416-78_4416-77insCTCTT
chrX
53449568
G
A
5_prime_UTR_variant
MODIFIER
SMC1A
c.-19C>T
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
48759204
C
T
splice_region_variant&intron_variant
LOW
PQBP1
c.180-3C>T
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