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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr7
81695857
A
G
intron_variant
MODIFIER
CACNA2D1
c.659-17T>C
chr7
81695842
TA
T
splice_region_variant&intron_variant
LOW
CACNA2D1
c.659-3delT
chr7
81693768
T
C
intron_variant
MODIFIER
CACNA2D1
c.729-98A>G
chr7
81601231
C
G
intron_variant
MODIFIER
CACNA2D1
c.2054-51G>C
chr7
81596813
T
C
intron_variant
MODIFIER
CACNA2D1
c.2463+99A>G
chr7
81591716
T
G
intron_variant
MODIFIER
CACNA2D1
c.2836+40A>C
chr7
81591114
GTAATGATTATAACAGTATATACAATTTCT
G
intron_variant
MODIFIER
CACNA2D1
c.2966+67_2966+95delAGAAATTGTATATACTGTTATAATCATTA
chr7
81588636
G
A
synonymous_variant
LOW
CACNA2D1
c.3114C>T
chr7
74173181
C
T
3_prime_UTR_variant
MODIFIER
GTF2I
c.*13C>T
chr7
74167356
A
T
intron_variant
MODIFIER
GTF2I
c.2558-70A>T
chr7
74158003
A
G
intron_variant
MODIFIER
GTF2I
c.1750+144A>G
chr7
74114847
T
C
intron_variant
MODIFIER
GTF2I
c.557+87T>C
chr7
73969564
C
T
intron_variant
MODIFIER
GTF2IRD1
c.2062+11C>T
chr7
73969541
A
G
missense_variant
MODERATE
GTF2IRD1
c.2050A>G
chr7
73969352
A
G
intron_variant
MODIFIER
GTF2IRD1
c.2013-152A>G
chr7
73952617
G
T
intron_variant
MODIFIER
GTF2IRD1
c.1543+114G>T
chr7
73950636
G
A
intron_variant
MODIFIER
GTF2IRD1
c.1505+31G>A
chr7
73949411
T
C
intron_variant
MODIFIER
GTF2IRD1
c.1371-32T>C
chr7
73944185
T
C
synonymous_variant
LOW
GTF2IRD1
c.1308T>C
chr7
73929583
G
T
intron_variant
MODIFIER
GTF2IRD1
c.266-92G>T