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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr17
42945296
A
G
intron_variant
MODIFIER
EFTUD2
c.1059-31T>C
chr17
42940059
C
T
intron_variant
MODIFIER
EFTUD2
c.1607+22G>A
chr17
42937963
AT
A
intron_variant
MODIFIER
EFTUD2
c.1608-53delA
chr17
42934415
T
C
intron_variant
MODIFIER
EFTUD2
c.2045+28A>G
chr17
42934372
A
G
intron_variant
MODIFIER
EFTUD2
c.2045+71T>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
42151478
C
T
intron_variant
MODIFIER
G6PC3
c.219-50C>T
chr17
39926159
A
AT
intron_variant
MODIFIER
JUP
c.209-231_209-230insA
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
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
39911771
A
G
3_prime_UTR_variant
MODIFIER
JUP
c.*225T>C