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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr16
16308351
G
A
intron_variant
MODIFIER
ABCC6
c.475-45C>T
chr16
16291983
A
G
synonymous_variant
LOW
ABCC6
c.1233T>C
chr16
16291871
G
C
splice_region_variant&intron_variant
LOW
ABCC6
c.1338+7C>G
chr16
16291858
G
C
intron_variant
MODIFIER
ABCC6
c.1338+20C>G
chr16
16286614
G
C
intron_variant
MODIFIER
ABCC6
c.1431+73C>G
chr16
16286519
G
C
intron_variant
MODIFIER
ABCC6
c.1431+168C>G
chr16
16284272
C
T
intron_variant
MODIFIER
ABCC6
c.1432-48G>A
chr16
16284265
T
C
intron_variant
MODIFIER
ABCC6
c.1432-41A>G
chr16
16283973
G
A
intron_variant
MODIFIER
ABCC6
c.1635+48C>T
chr16
16280921
T
C
intron_variant
MODIFIER
ABCC6
c.1867+60A>G
chr16
16278948
C
T
intron_variant
MODIFIER
ABCC6
c.1868-57G>A
chr16
16272670
T
C
synonymous_variant
LOW
ABCC6
c.2400A>G
chr16
16271357
T
C
missense_variant
MODERATE
ABCC6
c.2542A>G
chr16
16269633
TG
T
intron_variant
MODIFIER
ABCC6
c.2666+134delC
chr16
16267079
A
G
intron_variant
MODIFIER
ABCC6
c.2787+62T>C
chr16
16263864
A
G
intron_variant
MODIFIER
ABCC6
c.2788-154T>C
chr16
16263837
T
C
intron_variant
MODIFIER
ABCC6
c.2788-127A>G
chr16
16256767
T
G
intron_variant
MODIFIER
ABCC6
c.3506+83A>C
chr16
16255240
G
A
intron_variant
MODIFIER
ABCC6
c.3633+55C>T
chr16
16255205
C
T
intron_variant
MODIFIER
ABCC6
c.3633+90G>A