Page size
CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr18
48609293
T
C
3_prime_UTR_variant
MODIFIER
SMAD4
c.*4456T>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
19780527
AC
A
intron_variant
MODIFIER
GATA6
c.1621-91delC
chr18
19423963
GT
G
intron_variant
MODIFIER
MIB1
c.2050-89delT
chr17
59477903
C
A
synonymous_variant
LOW
TBX2
c.366C>A
chr17
57094617
T
C
intron_variant
MODIFIER
TRIM37
c.2386+40A>G
chr17
56777148
T
C
intron_variant
MODIFIER
RAD51C
c.571+2928T>C
chr17
44248499
G
C
synonymous_variant
LOW
KANSL1
c.1011C>G
chr17
44159968
T
C
intron_variant
MODIFIER
KANSL1
c.1432-60A>G
chr17
44117135
C
T
synonymous_variant
LOW
KANSL1
c.2136G>A
chr17
44109843
A
G
intron_variant
MODIFIER
KANSL1
c.2838-178T>C
chr17
42962808
C
T
intron_variant
MODIFIER
EFTUD2
c.272-106G>A
chr17
42961009
C
T
splice_region_variant&intron_variant
LOW
EFTUD2
c.426+8G>A
chr17
42957855
A
G
intron_variant
MODIFIER
EFTUD2
c.619+67T>C
chr17
42957139
C
T
intron_variant
MODIFIER
EFTUD2
c.620-133G>A
chr17
42956798
T
C
intron_variant
MODIFIER
EFTUD2
c.702+126A>G
chr17
42945867
A
G
intron_variant
MODIFIER
EFTUD2
c.995-149T>C
chr17
42945296
A
G
intron_variant
MODIFIER
EFTUD2
c.1059-31T>C