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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr1
22158363
G
A
intron_variant
MODIFIER
HSPG2
c.11211-74C>T
chr1
22157689
G
A
intron_variant
MODIFIER
HSPG2
c.11565+19C>T
chr1
22155723
T
C
intron_variant
MODIFIER
HSPG2
c.11996-151A>G
chr1
22149935
T
C
synonymous_variant
LOW
HSPG2
c.13053A>G
chr1
21671943
T
G
5_prime_UTR_variant
MODIFIER
ECE1
c.-72A>C
chr1
21554319
A
G
intron_variant
MODIFIER
ECE1
c.1781+105T>C
chr1
10725498
G
A
synonymous_variant
LOW
CASZ1
c.147C>T
chr1
10719645
A
G
intron_variant
MODIFIER
CASZ1
c.1340+114T>C
chr1
10718731
CCTCTG
C
intron_variant
MODIFIER
CASZ1
c.1341-103_1341-99delCAGAG
chr1
10714330
A
AC
intron_variant
MODIFIER
CASZ1
c.1839-56_1839-55insG
chr1
10713765
T
C
synonymous_variant
LOW
CASZ1
c.2349A>G
chr1
10710849
G
GC
intron_variant
MODIFIER
CASZ1
c.2817-38_2817-37insG
chr1
10709441
C
T
synonymous_variant
LOW
CASZ1
c.2934G>A
chr1
10709309
C
G
intron_variant
MODIFIER
CASZ1
c.3035+31G>C
chr1
10709267
C
T
intron_variant
MODIFIER
CASZ1
c.3036-18G>A
chr1
10708142
A
G
synonymous_variant
LOW
CASZ1
c.3213T>C
chr1
10703203
G
GC
intron_variant
MODIFIER
CASZ1
c.4020+13_4020+14insG
chr1
6038583
G
C
intron_variant
MODIFIER
NPHP4
c.136-110C>G
chr1
6038476
AG
A
splice_region_variant&intron_variant
LOW
NPHP4
c.136-4delC
chr1
6029086
CA
C
intron_variant
MODIFIER
NPHP4
c.452+60delT