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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr8
10584288
C
T
intron_variant
MODIFIER
SOX7
c.239-112G>A
chr8
10584212
C
T
intron_variant
MODIFIER
SOX7
c.239-36G>A
chr8
10583724
G
T
missense_variant
MODERATE
SOX7
c.691C>A
chr8
10583203
A
G
3_prime_UTR_variant
MODIFIER
SOX7
c.*45T>C
chr7
150708850
G
A
intron_variant
MODIFIER
NOS3
c.2985-589G>A
chr7
150708089
A
G
intron_variant
MODIFIER
NOS3
c.2984+15A>G
chr7
150707488
C
T
intron_variant
MODIFIER
NOS3
c.2685+113C>T
chr7
150706436
G
GC
intron_variant
MODIFIER
NOS3
c.2325-50_2325-49insC
chr7
150706383
C
A
intron_variant
MODIFIER
NOS3
c.2324+28C>A
chr7
150703915
G
T
intron_variant
MODIFIER
NOS3
c.1821-62G>T
chr7
150699471
AACACACACACACACACACAC
A
intron_variant
MODIFIER
NOS3
c.1752+80_1752+99delACACACACACACACACACAC
chr7
150698879
A
G
intron_variant
MODIFIER
NOS3
c.1503-30A>G
chr7
150696111
T
G
missense_variant
MODERATE
NOS3
c.894T>G
chr7
150696008
A
G
intron_variant
MODIFIER
NOS3
c.817-26A>G
chr7
150695726
T
C
synonymous_variant
LOW
NOS3
c.774T>C
chr7
150655643
G
A
intron_variant
MODIFIER
KCNH2
c.473-53C>T
chr7
150655624
T
C
intron_variant
MODIFIER
KCNH2
c.473-34A>G
chr7
150654622
A
AG
intron_variant
MODIFIER
KCNH2
c.917-33_917-32insC
chr7
150649603
G
A
synonymous_variant
LOW
KCNH2
c.1467C>T
chr7
150649531
G
A
synonymous_variant
LOW
KCNH2
c.1539C>T