Page size
CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr10
73111408
C
T
missense_variant
MODERATE
SLC29A3
c.473C>T
chr10
73104056
A
G
splice_region_variant&intron_variant
LOW
SLC29A3
c.383+8A>G
chr10
72201532
A
G
upstream_gene_variant
MODIFIER
NODAL
c.-43T>C
chr10
72201219
G
A
intron_variant
MODIFIER
NODAL
c.193+12C>T
chr10
72195439
T
C
missense_variant
MODERATE
NODAL
c.494A>G
chr10
69969986
C
T
intron_variant
MODIFIER
MYPN
c.3794-57C>T
chr10
69966392
T
G
intron_variant
MODIFIER
MYPN
c.3660-135T>G
chr10
69961537
CA
C
intron_variant
MODIFIER
MYPN
c.3494-48delA
chr10
69961501
A
G
intron_variant
MODIFIER
MYPN
c.3494-85A>G
chr10
69948844
T
C
synonymous_variant
LOW
MYPN
c.2886T>C
chr10
69935235
T
C
intron_variant
MODIFIER
MYPN
c.2703+17T>C
chr10
69934467
A
G
intron_variant
MODIFIER
MYPN
c.2564+54A>G
chr10
69934258
C
G
missense_variant
MODERATE
MYPN
c.2409C>G
chr10
69896652
C
T
intron_variant
MODIFIER
MYPN
c.903-6045C>T
chr10
69896336
G
A
intron_variant
MODIFIER
MYPN
c.903-6361G>A
chr10
54050079
G
A
intron_variant
MODIFIER
PRKG1
c.1962+29G>A
chr10
53921754
C
A
intron_variant
MODIFIER
PRKG1
c.1076+31C>A
chr10
53667443
C
T
intron_variant
MODIFIER
PRKG1
c.762+113C>T
chr10
53667136
AT
A
intron_variant
MODIFIER
PRKG1
c.699-130delT
chr10
52751070
A
AGCC
5_prime_UTR_variant
MODIFIER
PRKG1
c.-38_-36dupGCC