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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr17
68172326
C
T
synonymous_variant
LOW
KCNJ2
c.1146C>T
chr17
59485555
C
T
synonymous_variant
LOW
TBX2
c.1827C>T
chr17
59485393
C
T
intron_variant
MODIFIER
TBX2
c.1687-22C>T
chr17
59482173
G
A
intron_variant
MODIFIER
TBX2
c.1051+43G>A
chr17
59482169
C
G
intron_variant
MODIFIER
TBX2
c.1051+39C>G
chr17
59482165
GC
G
intron_variant
MODIFIER
TBX2
c.1051+36delC
chr17
57094617
T
C
intron_variant
MODIFIER
TRIM37
c.2386+40A>G
chr17
56777124
C
T
intron_variant
MODIFIER
RAD51C
c.571+2904C>T
chr17
44248499
G
C
synonymous_variant
LOW
KANSL1
c.1011C>G
chr17
44248135
T
C
intron_variant
MODIFIER
KANSL1
c.1289+86A>G
chr17
44172166
G
A
intron_variant
MODIFIER
KANSL1
c.1290-99C>T
chr17
44117135
C
T
synonymous_variant
LOW
KANSL1
c.2136G>A
chr17
42962808
C
T
intron_variant
MODIFIER
EFTUD2
c.272-106G>A
chr17
42962793
T
C
intron_variant
MODIFIER
EFTUD2
c.272-91A>G
chr17
42962568
C
T
intron_variant
MODIFIER
EFTUD2
c.350+56G>A
chr17
42961009
C
T
splice_region_variant&intron_variant
LOW
EFTUD2
c.426+8G>A
chr17
42957855
A
G
intron_variant
MODIFIER
EFTUD2
c.619+67T>C
chr17
42957139
C
T
intron_variant
MODIFIER
EFTUD2
c.620-133G>A
chr17
42956798
T
C
intron_variant
MODIFIER
EFTUD2
c.702+126A>G
chr17
42945867
A
G
intron_variant
MODIFIER
EFTUD2
c.995-149T>C