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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr3
132401600
C
T
synonymous_variant
LOW
NPHP3
c.3759G>A
chr3
129234259
T
C
intron_variant
MODIFIER
IFT122
c.3307-72T>C
chr3
129210977
G
C
splice_region_variant&intron_variant
LOW
IFT122
c.2146-7G>C
chr3
129202644
G
T
intron_variant
MODIFIER
IFT122
c.2004+119G>T
chr3
129200256
T
G
intron_variant
MODIFIER
IFT122
c.1642-117T>G
chr3
129197115
C
G
intron_variant
MODIFIER
IFT122
c.1503+54C>G
chr3
129188325
G
A
intron_variant
MODIFIER
IFT122
c.969+65G>A
chr3
129188080
C
T
intron_variant
MODIFIER
IFT122
c.894-105C>T
chr3
129185661
C
A
intron_variant
MODIFIER
IFT122
c.717-72C>A
chr3
129185641
T
C
intron_variant
MODIFIER
IFT122
c.717-92T>C
chr3
129168854
CTT
C
intron_variant
MODIFIER
IFT122
c.108+75_108+76delTT
chr3
123457893
G
A
missense_variant
MODERATE
MYLK
c.439C>T
chr3
123457711
C
A
intron_variant
MODIFIER
MYLK
c.588+33G>T
chr3
123456432
C
T
intron_variant
MODIFIER
MYLK
c.589-42G>A
chr3
123453061
A
G
missense_variant
MODERATE
MYLK
c.782T>C
chr3
123452838
G
A
synonymous_variant
LOW
MYLK
c.1005C>T
chr3
123451773
G
C
missense_variant
MODERATE
MYLK
c.1486C>G
chr3
123441248
C
T
intron_variant
MODIFIER
MYLK
c.1652-121G>A
chr3
123441237
GC
G
intron_variant
MODIFIER
MYLK
c.1652-111delG
chr3
123441179
C
T
intron_variant
MODIFIER
MYLK
c.1652-52G>A