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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr8
100871751
C
CT
intron_variant
MODIFIER
VPS13B
c.11119+43_11119+44insT
chr8
100844758
T
C
synonymous_variant
LOW
VPS13B
c.9567T>C
chr8
100479917
T
C
intron_variant
MODIFIER
VPS13B
c.3666+55T>C
chr8
100287579
G
C
intron_variant
MODIFIER
VPS13B
c.2824+97G>C
chr8
100286280
T
C
intron_variant
MODIFIER
VPS13B
c.2516-146T>C
chr8
100160282
ATTT
A
intron_variant
MODIFIER
VPS13B
c.2013+45_2013+47delTTT
chr8
100133706
T
G
stop_gained
HIGH
VPS13B
c.1239T>G
chr8
61775373
C
CATCA
intron_variant
MODIFIER
CHD7
c.8076+162_8076+163insATCA
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
61732521
A
G
intron_variant
MODIFIER
CHD7
c.2614-45A>G
chr8
61713126
A
ATGGACT
intron_variant
MODIFIER
CHD7
c.2376+42_2376+43insTGGACT
chr8
61712863
T
C
intron_variant
MODIFIER
CHD7
c.2239-84T>C
chr8
61707725
G
A
intron_variant
MODIFIER
CHD7
c.2238+39G>A
chr8
61655690
G
A
intron_variant
MODIFIER
CHD7
c.1665+34G>A
chr8
61653945
G
A
5_prime_UTR_variant
MODIFIER
CHD7
c.-47G>A
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