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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr17
42937963
ATTT
A
intron_variant
MODIFIER
EFTUD2
c.1608-55_1608-53delAAA
chr17
42934372
A
G
intron_variant
MODIFIER
EFTUD2
c.2045+71T>C
chr17
42932474
A
G
intron_variant
MODIFIER
EFTUD2
c.2046-102T>C
chr17
42929970
T
C
intron_variant
MODIFIER
EFTUD2
c.2562-40A>G
chr17
42152103
G
A
synonymous_variant
LOW
G6PC3
c.381G>A
chr17
39926154
A
C
intron_variant
MODIFIER
JUP
c.209-225T>G
chr17
39926149
C
T
intron_variant
MODIFIER
JUP
c.209-220G>A
chr17
39925925
A
G
synonymous_variant
LOW
JUP
c.213T>C
chr17
39923960
T
C
intron_variant
MODIFIER
JUP
c.708-128A>G
chr17
39923614
A
G
intron_variant
MODIFIER
JUP
c.909+17T>C
chr17
39914070
G
T
intron_variant
MODIFIER
JUP
c.1774-34C>A
chr17
39914003
C
A
missense_variant
MODERATE
JUP
c.1807G>T
chr17
39913645
T
C
intron_variant
MODIFIER
JUP
c.2046+22A>G
chr17
39912581
A
G
intron_variant
MODIFIER
JUP
c.2047-115T>C
chr17
39912259
A
AC
intron_variant
MODIFIER
JUP
c.2087-113_2087-112insG
chr17
39912145
T
A
missense_variant&splice_region_variant
MODERATE
JUP
c.2089A>T
chr17
38563710
C
G
intron_variant
MODIFIER
TOP2A
c.1626+91G>C
chr17
38556770
T
C
intron_variant
MODIFIER
TOP2A
c.2799+11A>G
chr17
37822311
A
C
synonymous_variant
LOW
TCAP
c.453A>C
chr17
37821435
G
T
upstream_gene_variant
MODIFIER
TCAP
c.-15G>T