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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr16
1642660
T
C
intron_variant
MODIFIER
IFT140
c.370-71A>G
chr16
1642423
C
T
intron_variant
MODIFIER
IFT140
c.491+45G>A
chr16
1639793
C
G
intron_variant
MODIFIER
IFT140
c.635-12G>C
chr16
1616201
C
T
missense_variant
MODERATE
IFT140
c.1862G>A
chr16
1614240
C
G
intron_variant
MODIFIER
IFT140
c.1902-77G>C
chr16
1614097
A
G
synonymous_variant
LOW
IFT140
c.1968T>C
chr16
1608177
A
G
intron_variant
MODIFIER
IFT140
c.2200-42T>C
chr16
1604701
T
C
intron_variant
MODIFIER
IFT140
c.2399+3235A>G
chr16
1584628
G
A
intron_variant
MODIFIER
IFT140
c.2400-7831C>T
chr16
1584618
T
C
intron_variant
MODIFIER
IFT140
c.2400-7821A>G
chr16
1575704
T
C
intron_variant
MODIFIER
IFT140
c.2768+184A>G
chr16
1574030
G
C
intron_variant
MODIFIER
IFT140
c.3142-73C>G
chr16
1573890
G
A
missense_variant
MODERATE
IFT140
c.3209C>T
chr16
1573810
A
G
intron_variant
MODIFIER
IFT140
c.3270+19T>C
chr16
1573485
G
A
intron_variant
MODIFIER
IFT140
c.3453+34C>T
chr16
1570857
T
C
intron_variant
MODIFIER
IFT140
c.3454-48A>G
chr16
397044
G
T
5_prime_UTR_variant
MODIFIER
AXIN1
c.-19C>A
chr16
396264
A
G
synonymous_variant
LOW
AXIN1
c.762T>C
chr16
359953
A
G
intron_variant
MODIFIER
AXIN1
c.1116+20T>C
chr16
354493
C
T
intron_variant
MODIFIER
AXIN1
c.1117-52G>A