Page size
CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr10
69933921
G
A
missense_variant
MODERATE
MYPN
c.2072G>A
chr10
69926334
C
G
missense_variant
MODERATE
MYPN
c.1884C>G
chr10
69926097
T
C
synonymous_variant
LOW
MYPN
c.1647T>C
chr10
69921335
T
A
intron_variant
MODIFIER
MYPN
c.1460-151T>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
53921655
T
C
synonymous_variant
LOW
PRKG1
c.1008T>C
chr10
53921584
C
T
intron_variant
MODIFIER
PRKG1
c.1002-65C>T
chr10
53814383
C
T
intron_variant
MODIFIER
PRKG1
c.840+62C>T
chr10
53814229
G
T
intron_variant
MODIFIER
PRKG1
c.763-15G>T
chr10
53667443
C
T
intron_variant
MODIFIER
PRKG1
c.762+113C>T
chr10
53667136
AT
A
intron_variant
MODIFIER
PRKG1
c.699-130delT
chr10
52751088
C
CGCT
5_prime_UTR_variant
MODIFIER
PRKG1
c.-49_-48insTGC
chr10
18828721
C
CAA
3_prime_UTR_variant
MODIFIER
CACNB2
c.*70_*71dupAA
chr10
18828669
GTT
GT
3_prime_UTR_variant
MODIFIER
CACNB2
c.*35delT
chr10
18828669
GTT
G
3_prime_UTR_variant
MODIFIER
CACNB2
c.*34_*35delTT
chr10
18828663
G
T
3_prime_UTR_variant
MODIFIER
CACNB2
c.*10G>T
chr10
18828371
C
T
synonymous_variant
LOW
CACNB2
c.1701C>T
chr10
18825186
TTTTTTTTTTTTTTTTTGG
T
intron_variant
MODIFIER
CACNB2
c.1302+62_1302+79delTTTTTTTTTTTTTTTTGG
chr10
18825185
TTTTTTTTTTTTTTTTTTGG
T
intron_variant
MODIFIER
CACNB2
c.1302+61_1302+79delTTTTTTTTTTTTTTTTTGG