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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr1
22149935
T
C
synonymous_variant
LOW
HSPG2
c.13053A>G
chr1
21583973
A
G
intron_variant
MODIFIER
ECE1
c.828+45T>C
chr1
21583925
C
T
intron_variant
MODIFIER
ECE1
c.828+93G>A
chr1
21582348
T
C
intron_variant
MODIFIER
ECE1
c.1020+92A>G
chr1
21573722
G
A
synonymous_variant
LOW
ECE1
c.1155C>T
chr1
21571601
G
A
splice_region_variant&intron_variant
LOW
ECE1
c.1164-5C>T
chr1
21560253
G
C
intron_variant
MODIFIER
ECE1
c.1567-99C>G
chr1
21554319
A
G
intron_variant
MODIFIER
ECE1
c.1781+105T>C
chr1
10719645
A
G
intron_variant
MODIFIER
CASZ1
c.1340+114T>C
chr1
10713765
T
C
synonymous_variant
LOW
CASZ1
c.2349A>G
chr1
10707812
G
A
3_prime_UTR_variant
MODIFIER
CASZ1
c.*42C>T
chr1
6046432
C
G
intron_variant
MODIFIER
NPHP4
c.-38-45G>C
chr1
6038583
G
C
intron_variant
MODIFIER
NPHP4
c.136-110C>G
chr1
6029086
CA
C
intron_variant
MODIFIER
NPHP4
c.452+60delT
chr1
6027252
A
G
intron_variant
MODIFIER
NPHP4
c.517+107T>C
chr1
6027167
C
A
intron_variant
MODIFIER
NPHP4
c.517+192G>T
chr1
5948677
G
A
intron_variant
MODIFIER
NPHP4
c.2305-1151C>T
chr1
5939544
T
G
intron_variant
MODIFIER
NPHP4
c.2611+630A>C
chr1
5937413
A
C
intron_variant
MODIFIER
NPHP4
c.2612-55T>G
chr1
5937391
C
T
intron_variant
MODIFIER
NPHP4
c.2612-33G>A