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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr4
26407681
A
G
intron_variant
MODIFIER
RBPJ
c.99-116A>G
chr4
26364300
C
G
intron_variant
MODIFIER
RBPJ
c.60-23675C>G
chr4
5785528
A
G
intron_variant
MODIFIER
EVC
c.1776+37A>G
chr4
5785442
G
A
missense_variant
MODERATE
EVC
c.1727G>A
chr4
5755542
C
A
missense_variant
MODERATE
EVC
c.1346C>A
chr4
5755373
G
C
intron_variant
MODIFIER
EVC
c.1316-139G>C
chr4
5754544
T
C
intron_variant
MODIFIER
EVC
c.1099-19T>C
chr4
5750084
A
T
intron_variant
MODIFIER
EVC
c.1098+51A>T
chr4
5750003
A
G
synonymous_variant
LOW
EVC
c.1068A>G
chr4
5749961
G
C
synonymous_variant
LOW
EVC
c.1026G>C
chr4
5749904
T
C
synonymous_variant
LOW
EVC
c.969T>C
chr4
5749814
C
T
intron_variant
MODIFIER
EVC
c.940-61C>T
chr4
5749804
G
A
intron_variant
MODIFIER
EVC
c.940-71G>A
chr4
5749784
G
A
intron_variant
MODIFIER
EVC
c.940-91G>A
chr4
5747131
C
A
intron_variant
MODIFIER
EVC
c.939+63C>A
chr4
5747078
A
G
intron_variant
MODIFIER
EVC
c.939+10A>G
chr4
5747072
C
T
splice_region_variant&intron_variant
LOW
EVC
c.939+4C>T
chr4
5746916
C
T
intron_variant
MODIFIER
EVC
c.802-15C>T
chr4
5743512
T
C
missense_variant
MODERATE
EVC
c.772T>C
chr4
5743509
C
T
synonymous_variant
LOW
EVC
c.769C>T