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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr22
51135451
G
C
intron_variant
MODIFIER
SHANK3
c.1305-541G>C
chr22
51135240
T
C
intron_variant
MODIFIER
SHANK3
c.1305-752T>C
chr22
51135180
AC
A
intron_variant
MODIFIER
SHANK3
c.1305-811delC
chr22
20938775
T
C
intron_variant
MODIFIER
MED15
c.1803+63T>C
chr22
20936735
G
C
intron_variant
MODIFIER
MED15
c.1273-163G>C
chr22
20891568
G
A
intron_variant
MODIFIER
MED15
c.156+77G>A
chr22
20891545
A
G
intron_variant
MODIFIER
MED15
c.156+54A>G
chr22
20862646
T
G
5_prime_UTR_variant
MODIFIER
MED15
c.-96T>G
chr22
19766782
C
T
missense_variant
MODERATE
TBX1
c.1049C>T
chr22
19754091
A
C
missense_variant
MODERATE
TBX1
c.1189A>C
chr22
19753848
A
G
intron_variant
MODIFIER
TBX1
c.1010-64A>G
chr22
19753449
A
G
synonymous_variant
LOW
TBX1
c.933A>G
chr22
19750773
T
C
synonymous_variant
LOW
TBX1
c.420T>C
chr22
19747082
G
C
splice_region_variant
LOW
TBX1
c.-85G>C
chr22
19466757
A
AG
upstream_gene_variant
MODIFIER
UFD1L
c.-131_-131insC
chr22
19462466
C
G
intron_variant
MODIFIER
UFD1L
c.169+125G>C
chr22
19455605
G
A
intron_variant
MODIFIER
UFD1L
c.292-79C>T
chr22
19443931
G
T
intron_variant
MODIFIER
UFD1L
c.678+179C>A
chr22
19419093
A
G
5_prime_UTR_variant
MODIFIER
HIRA
c.-94T>C
chr21
47542654
G
GC
intron_variant
MODIFIER
COL6A2
c.1609-135_1609-134insC