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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr18
48584855
A
ATT
intron_variant
MODIFIER
SMAD4
c.904+29_904+30insTT
chr18
48581601
C
A
intron_variant
MODIFIER
SMAD4
c.667+238C>A
chr18
48575929
TA
T
intron_variant
MODIFIER
SMAD4
c.454+236delA
chr18
48575389
T
C
intron_variant
MODIFIER
SMAD4
c.424+159T>C
chr18
48573268
CT
C
intron_variant
MODIFIER
SMAD4
c.-127-21delT
chr18
48568271
G
A
intron_variant
MODIFIER
SMAD4
c.-127-5019G>A
chr18
48557417
T
C
intron_variant
MODIFIER
SMAD4
c.-128+424T>C
chr18
42533130
A
G
synonymous_variant
LOW
SETBP1
c.3825A>G
chr18
32386125
T
C
intron_variant
MODIFIER
DTNA
c.363-58T>C
chr18
32346149
G
T
intron_variant
MODIFIER
DTNA
c.148+144G>T
chr18
19780863
A
G
3_prime_UTR_variant
MODIFIER
GATA6
c.*77A>G
chr18
19780858
G
A
3_prime_UTR_variant
MODIFIER
GATA6
c.*72G>A
chr18
19780527
AC
A
intron_variant
MODIFIER
GATA6
c.1621-91delC
chr18
19762824
C
T
intron_variant
MODIFIER
GATA6
c.1516+19C>T
chr18
19444661
A
C
3_prime_UTR_variant
MODIFIER
MIB1
c.*34A>C
chr18
19427096
A
G
intron_variant
MODIFIER
MIB1
c.2393+10A>G
chr18
19423963
GT
G
intron_variant
MODIFIER
MIB1
c.2050-89delT
chr18
19423003
T
C
intron_variant
MODIFIER
MIB1
c.1963-89T>C
chr18
19383993
A
G
intron_variant
MODIFIER
MIB1
c.1479+18A>G
chr17
70120551
A
C
3_prime_UTR_variant
MODIFIER
SOX9
c.*23A>C