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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr16
15842023
G
A
splice_region_variant&synonymous_variant
LOW
MYH11
c.2082C>T
chr16
15841830
G
A
intron_variant
MODIFIER
MYH11
c.2202-30C>T
chr16
15838940
G
C
intron_variant
MODIFIER
MYH11
c.2541+46C>G
chr16
15826384
T
C
intron_variant
MODIFIER
MYH11
c.3672+37A>G
chr16
15820297
C
T
intron_variant
MODIFIER
MYH11
c.3879+408G>A
chr16
15818141
A
C
synonymous_variant
LOW
MYH11
c.4263T>G
chr16
15811062
C
T
synonymous_variant
LOW
MYH11
c.5460G>A
chr16
15811023
C
T
synonymous_variant
LOW
MYH11
c.5499G>A
chr16
3820667
C
T
synonymous_variant
LOW
CREBBP
c.2784G>A
chr16
3808052
TA
T
splice_region_variant&intron_variant
LOW
CREBBP
c.3370-4delT
chr16
3801649
T
C
intron_variant
MODIFIER
CREBBP
c.3779+78A>G
chr16
3795363
G
A
splice_region_variant&intron_variant
LOW
CREBBP
c.3837-8C>T
chr16
3795292
G
T
synonymous_variant
LOW
CREBBP
c.3900C>A
chr16
3790307
T
C
intron_variant
MODIFIER
CREBBP
c.4133+93A>G
chr16
3789537
G
A
intron_variant
MODIFIER
CREBBP
c.4280+42C>T
chr16
3778337
G
A
synonymous_variant
LOW
CREBBP
c.6711C>T
chr16
2167874
G
A
synonymous_variant
LOW
PKD1
c.1119C>T
chr16
2166672
G
A
intron_variant
MODIFIER
PKD1
c.1607-27C>T
chr16
2165323
G
A
intron_variant
MODIFIER
PKD1
c.2097+56C>T
chr16
2165306
C
A
intron_variant
MODIFIER
PKD1
c.2097+73G>T