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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr3
184106367
C
G
splice_region_variant&intron_variant
LOW
CHRD
c.2555-8C>G
chr3
184104050
G
A
intron_variant
MODIFIER
CHRD
c.1932+103G>A
chr3
184100961
G
GT
intron_variant
MODIFIER
CHRD
c.1213+10_1213+11insT
chr3
184099378
C
A
synonymous_variant
LOW
CHRD
c.477C>A
chr3
184098714
G
A
intron_variant
MODIFIER
CHRD
c.252+131G>A
chr3
184098647
C
T
intron_variant
MODIFIER
CHRD
c.252+64C>T
chr3
132441268
T
C
5_prime_UTR_variant
MODIFIER
NPHP3
c.-69A>G
chr3
132409455
C
T
synonymous_variant
LOW
NPHP3
c.2610G>A
chr3
132401600
C
T
synonymous_variant
LOW
NPHP3
c.3759G>A
chr3
129234259
T
C
intron_variant
MODIFIER
IFT122
c.3307-72T>C
chr3
129218944
G
T
intron_variant
MODIFIER
IFT122
c.2528+33G>T
chr3
129214511
G
A
intron_variant
MODIFIER
IFT122
c.2361+61G>A
chr3
129214302
G
A
missense_variant
MODERATE
IFT122
c.2213G>A
chr3
129210977
G
C
splice_region_variant&intron_variant
LOW
IFT122
c.2146-7G>C
chr3
129210867
C
A
intron_variant
MODIFIER
IFT122
c.2146-117C>A
chr3
129207309
C
G
intron_variant
MODIFIER
IFT122
c.2145+69C>G
chr3
129202644
G
T
intron_variant
MODIFIER
IFT122
c.2004+119G>T
chr3
129202316
C
T
intron_variant
MODIFIER
IFT122
c.1807-12C>T
chr3
129197108
TC
T
intron_variant
MODIFIER
IFT122
c.1503+48delC
chr3
129195663
C
T
intron_variant
MODIFIER
IFT122
c.1300+19C>T