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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr16
16263837
T
C
intron_variant
MODIFIER
ABCC6
c.2788-127A>G
chr16
16263663
G
A
synonymous_variant
LOW
ABCC6
c.2835C>T
chr16
16256767
T
G
intron_variant
MODIFIER
ABCC6
c.3506+83A>C
chr16
16255195
T
G
intron_variant
MODIFIER
ABCC6
c.3633+100A>C
chr16
16253283
GC
G
intron_variant
MODIFIER
ABCC6
c.3735+55delG
chr16
16251599
C
T
missense_variant
MODERATE
ABCC6
c.3803G>A
chr16
16251435
G
A
intron_variant
MODIFIER
ABCC6
c.3882+85C>T
chr16
16244174
T
C
intron_variant
MODIFIER
ABCC6
c.4404-76A>G
chr16
16244129
T
C
intron_variant
MODIFIER
ABCC6
c.4404-31A>G
chr16
15950894
TC
T
upstream_gene_variant
MODIFIER
MYH11
c.-108delG
chr16
15950847
G
A
5_prime_UTR_variant
MODIFIER
MYH11
c.-67C>T
chr16
15950759
G
C
intron_variant
MODIFIER
MYH11
c.-18+39C>G
chr16
15950647
G
A
intron_variant
MODIFIER
MYH11
c.-18+151C>T
chr16
15872807
G
A
intron_variant
MODIFIER
MYH11
c.748-107C>T
chr16
15872748
G
T
intron_variant
MODIFIER
MYH11
c.748-48C>A
chr16
15872609
A
G
intron_variant
MODIFIER
MYH11
c.811+28T>C
chr16
15869801
T
C
intron_variant
MODIFIER
MYH11
c.910+134A>G
chr16
15865545
T
C
missense_variant
MODERATE
MYH11
c.935A>G
chr16
15853596
C
G
intron_variant
MODIFIER
MYH11
c.1270-11G>C
chr16
15850204
A
G
synonymous_variant
LOW
MYH11
c.1764T>C