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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr2
170088506
T
C
intron_variant
MODIFIER
LRP2
c.5099-154A>G
chr2
170088477
T
C
intron_variant
MODIFIER
LRP2
c.5099-125A>G
chr2
170082013
A
G
intron_variant
MODIFIER
LRP2
c.5395-50T>C
chr2
170077165
C
T
intron_variant
MODIFIER
LRP2
c.5539-92G>A
chr2
170063783
T
C
intron_variant
MODIFIER
LRP2
c.6470-23A>G
chr2
170059190
T
C
intron_variant
MODIFIER
LRP2
c.8209+76A>G
chr2
170055255
T
C
intron_variant
MODIFIER
LRP2
c.8578+41A>G
chr2
170053580
C
T
intron_variant
MODIFIER
LRP2
c.8579-40G>A
chr2
170053505
C
T
missense_variant
MODERATE
LRP2
c.8614G>A
chr2
170050472
T
C
intron_variant
MODIFIER
LRP2
c.8699-70A>G
chr2
170038571
C
T
intron_variant
MODIFIER
LRP2
c.9998+106G>A
chr2
170029800
T
C
intron_variant
MODIFIER
LRP2
c.11015-66A>G
chr2
170025083
A
G
synonymous_variant
LOW
LRP2
c.11601T>C
chr2
170010985
T
C
missense_variant
MODERATE
LRP2
c.12280A>G
chr2
170003432
T
G
missense_variant
MODERATE
LRP2
c.12628A>C
chr2
169997051
G
A
synonymous_variant
LOW
LRP2
c.13113C>T
chr2
167099158
A
G
missense_variant
MODERATE
SCN9A
c.3448T>C
chr2
167060980
GAAAC
G
splice_region_variant&intron_variant
LOW
SCN9A
c.4366-10_4366-7delGTTT
chr2
158655883
C
CAA
intron_variant
MODIFIER
ACVR1
c.67+55_67+56insTT
chr2
158637137
A
G
intron_variant
MODIFIER
ACVR1
c.68-25T>C