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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr8
61775373
C
CATCA
intron_variant
MODIFIER
CHD7
c.8076+162_8076+163insATCA
chr8
61768743
G
A
synonymous_variant
LOW
CHD7
c.7146G>A
chr8
61764389
G
T
intron_variant
MODIFIER
CHD7
c.5666-189G>T
chr8
61750860
A
G
intron_variant
MODIFIER
CHD7
c.4533+46A>G
chr8
61748893
C
A
intron_variant
MODIFIER
CHD7
c.3989+51C>A
chr8
61734295
A
G
intron_variant
MODIFIER
CHD7
c.2698-54A>G
chr8
61732521
A
G
intron_variant
MODIFIER
CHD7
c.2614-45A>G
chr8
61713231
C
A
intron_variant
MODIFIER
CHD7
c.2376+147C>A
chr8
61713126
A
ATGGACT
intron_variant
MODIFIER
CHD7
c.2376+42_2376+43insTGGACT
chr8
61707725
G
A
intron_variant
MODIFIER
CHD7
c.2238+39G>A
chr8
61693456
TGAGTATA
T
intron_variant
MODIFIER
CHD7
c.1666-102_1666-96delGAGTATA
chr8
61655690
G
A
intron_variant
MODIFIER
CHD7
c.1665+34G>A
chr8
61654207
T
C
synonymous_variant
LOW
CHD7
c.216T>C
chr8
27649426
G
GT
intron_variant
MODIFIER
ESCO2
c.1264-54_1264-53insT
chr8
27641706
TATTG
T
intron_variant
MODIFIER
ESCO2
c.1013+133_1013+136delATTG
chr8
27641609
G
A
intron_variant
MODIFIER
ESCO2
c.1013+35G>A
chr8
27632867
T
G
intron_variant
MODIFIER
ESCO2
c.-16-149T>G
chr8
23560648
G
A
intron_variant
MODIFIER
NKX2-6
c.275-53C>T
chr8
11612698
C
A
intron_variant
MODIFIER
GATA4
c.997+56C>A
chr8
11606312
T
C
intron_variant
MODIFIER
GATA4
c.617-116T>C