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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr4
5730954
G
A
intron_variant
MODIFIER
EVC
c.301-80G>A
chr4
5710255
C
T
5_prime_UTR_variant
MODIFIER
EVC2
c.-15G>A
chr4
5696264
G
A
intron_variant
MODIFIER
EVC2
c.284-36C>T
chr4
5687263
A
G
intron_variant
MODIFIER
EVC2
c.707-57T>C
chr4
5687257
G
A
intron_variant
MODIFIER
EVC2
c.707-51C>T
chr4
5686967
C
T
intron_variant
MODIFIER
EVC2
c.816+130G>A
chr4
5667134
C
A
intron_variant
MODIFIER
EVC2
c.1005+108G>T
chr4
5667133
G
A
intron_variant
MODIFIER
EVC2
c.1005+109C>T
chr4
5642161
A
G
intron_variant
MODIFIER
EVC2
c.1470+80T>C
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
189349247
A
T
5_prime_UTR_variant
MODIFIER
TP63
c.-58A>T
chr3
184103903
A
C
missense_variant
MODERATE
CHRD
c.1888A>C