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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr16
16255195
T
G
intron_variant
MODIFIER
ABCC6
c.3633+100A>C
chr16
16253570
C
T
intron_variant
MODIFIER
ABCC6
c.3634-130G>A
chr16
16253283
GC
G
intron_variant
MODIFIER
ABCC6
c.3735+55delG
chr16
16251435
G
A
intron_variant
MODIFIER
ABCC6
c.3882+85C>T
chr16
16244129
T
C
intron_variant
MODIFIER
ABCC6
c.4404-31A>G
chr16
16243973
C
T
3_prime_UTR_variant
MODIFIER
ABCC6
c.*17G>A
chr16
15950894
TC
T
upstream_gene_variant
MODIFIER
MYH11
c.-108delG
chr16
15950759
G
C
intron_variant
MODIFIER
MYH11
c.-18+39C>G
chr16
15872829
A
G
intron_variant
MODIFIER
MYH11
c.748-129T>C
chr16
15853596
C
G
intron_variant
MODIFIER
MYH11
c.1270-11G>C
chr16
15850204
A
G
synonymous_variant
LOW
MYH11
c.1764T>C
chr16
15839034
G
A
synonymous_variant
LOW
MYH11
c.2493C>T
chr16
15838940
G
C
intron_variant
MODIFIER
MYH11
c.2541+46C>G
chr16
15820863
C
T
missense_variant
MODERATE
MYH11
c.3721G>A
chr16
15818653
G
A
synonymous_variant
LOW
MYH11
c.3988C>T
chr16
15809117
C
T
synonymous_variant
LOW
MYH11
c.5538G>A
chr16
3827553
G
A
intron_variant
MODIFIER
CREBBP
c.2158+61C>T
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