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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr4
5743509
C
T
synonymous_variant
LOW
EVC
c.769C>T
chr4
5733068
G
T
intron_variant
MODIFIER
EVC
c.385-84G>T
chr4
5693112
C
T
intron_variant
MODIFIER
EVC2
c.451-52G>A
chr4
5690902
T
C
missense_variant
MODERATE
EVC2
c.688A>G
chr4
5687263
A
G
intron_variant
MODIFIER
EVC2
c.707-57T>C
chr4
5686967
C
T
intron_variant
MODIFIER
EVC2
c.816+130G>A
chr4
5642161
A
G
intron_variant
MODIFIER
EVC2
c.1470+80T>C
chr4
5642141
C
T
intron_variant
MODIFIER
EVC2
c.1470+100G>A
chr4
5630470
TA
T
intron_variant
MODIFIER
EVC2
c.1711-10delT
chr4
5624900
T
C
intron_variant
MODIFIER
EVC2
c.2047-182A>G
chr4
5624670
T
C
missense_variant
MODERATE
EVC2
c.2095A>G
chr4
5617369
G
T
intron_variant
MODIFIER
EVC2
c.2707-98C>A
chr4
5617295
T
C
intron_variant
MODIFIER
EVC2
c.2707-24A>G
chr4
5577884
T
C
intron_variant
MODIFIER
EVC2
c.3272+83A>G
chr4
5570221
G
A
synonymous_variant
LOW
EVC2
c.3507C>T
chr4
5570104
T
C
intron_variant
MODIFIER
EVC2
c.3557+67A>G
chr4
1217056
G
A
intron_variant
MODIFIER
CTBP1
c.547+2092C>T
chr3
189604160
T
C
intron_variant
MODIFIER
TP63
c.1350-23T>C
chr3
189604149
T
G
intron_variant
MODIFIER
TP63
c.1350-34T>G
chr3
189349247
A
T
5_prime_UTR_variant
MODIFIER
TP63
c.-58A>T