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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr16
2164808
C
T
missense_variant
MODERATE
PKD1
c.2216G>A
chr16
2160494
C
T
synonymous_variant
LOW
PKD1
c.4674G>A
chr16
2157079
T
C
intron_variant
MODIFIER
PKD1
c.7066-130A>G
chr16
2154478
A
G
intron_variant
MODIFIER
PKD1
c.8161+21T>C
chr16
2144182
G
A
missense_variant
MODERATE
PKD1
c.10529C>T
chr16
2120402
T
C
intron_variant
MODIFIER
TSC2
c.1717-55T>C
chr16
2111779
T
C
intron_variant
MODIFIER
TSC2
c.1120-93T>C
chr16
2110571
C
G
intron_variant
MODIFIER
TSC2
c.976-100C>G
chr16
1575704
T
C
intron_variant
MODIFIER
IFT140
c.2768+184A>G
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
1569934
C
T
missense_variant
MODERATE
IFT140
c.3988G>A
chr16
1568402
A
G
intron_variant
MODIFIER
IFT140
c.4041-44T>C
chr16
1560886
A
G
3_prime_UTR_variant
MODIFIER
IFT140
c.*59T>C
chr16
396264
A
G
synonymous_variant
LOW
AXIN1
c.762T>C
chr16
359953
A
G
intron_variant
MODIFIER
AXIN1
c.1116+20T>C
chr16
341120
C
T
intron_variant
MODIFIER
AXIN1
c.2294+70G>A
chr16
336660
G
A
synonymous_variant
LOW
PDIA2
c.1347G>A
chr15
96880510
ATTC
A
intron_variant
MODIFIER
NR2F2
c.971-66_971-64delTTC