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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr13
31891746
G
A
missense_variant
MODERATE
B3GALTL
c.1108G>A
chr13
31891561
T
C
intron_variant
MODIFIER
B3GALTL
c.1065-142T>C
chr13
31851059
A
G
intron_variant
MODIFIER
B3GALTL
c.850+151A>G
chr13
31850989
G
A
intron_variant
MODIFIER
B3GALTL
c.850+81G>A
chr13
31850714
G
C
intron_variant
MODIFIER
B3GALTL
c.781-125G>C
chr13
31821992
T
C
splice_region_variant&synonymous_variant
LOW
B3GALTL
c.348T>C
chr13
31821240
C
T
splice_region_variant&intron_variant
LOW
B3GALTL
c.347+4C>T
chr13
31797006
A
G
intron_variant
MODIFIER
B3GALTL
c.121-83A>G
chr13
31796969
G
C
intron_variant
MODIFIER
B3GALTL
c.121-120G>C
chr13
31789169
CT
C
intron_variant
MODIFIER
B3GALTL
c.71-18delT
chr12
116714113
T
TTGTG
intron_variant
MODIFIER
MED13L
c.72+751_72+752insCACA
chr12
116445450
CAA
C
intron_variant
MODIFIER
MED13L
c.2013-11_2013-10delTT
chr12
116412922
T
C
intron_variant
MODIFIER
MED13L
c.5731+54A>G
chr12
116412921
A
T
intron_variant
MODIFIER
MED13L
c.5731+55T>A
chr12
115118997
G
A
intron_variant
MODIFIER
TBX3
c.390-46C>T
chr12
115114036
C
T
intron_variant
MODIFIER
TBX3
c.1099+82G>A
chr12
115110252
T
G
intron_variant
MODIFIER
TBX3
c.1771-145A>C
chr12
115110241
GT
G
intron_variant
MODIFIER
TBX3
c.1771-135delA
chr12
114832510
C
A
intron_variant
MODIFIER
TBX5
c.663+36G>T
chr12
114793297
T
C
3_prime_UTR_variant
MODIFIER
TBX5
c.*40A>G