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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr4
166978539
CT
C
intron_variant
MODIFIER
TLL1
c.1846+79delT
chr4
166929276
A
G
intron_variant
MODIFIER
TLL1
c.917+76A>G
chr4
155460459
T
C
intron_variant
MODIFIER
PLRG1
c.1043-94A>G
chr4
146475243
CT
C
intron_variant
MODIFIER
SMAD1
c.1254+52delT
chr4
146463966
T
C
intron_variant
MODIFIER
SMAD1
c.775+116T>C
chr4
120079159
A
G
intron_variant
MODIFIER
MYOZ2
c.247-18A>G
chr4
120072275
G
C
intron_variant
MODIFIER
MYOZ2
c.246+79G>C
chr4
120072238
A
G
intron_variant
MODIFIER
MYOZ2
c.246+42A>G
chr4
120072233
G
C
intron_variant
MODIFIER
MYOZ2
c.246+37G>C
chr4
57906986
A
T
splice_region_variant&intron_variant
LOW
IGFBP7
c.585+4T>A
chr4
57906930
T
G
intron_variant
MODIFIER
IGFBP7
c.585+60A>C
chr4
26431821
GA
G
intron_variant
MODIFIER
RBPJ
c.1083+147delA
chr4
26430147
A
G
intron_variant
MODIFIER
RBPJ
c.787-195A>G
chr4
26425851
C
G
intron_variant
MODIFIER
RBPJ
c.536-113C>G
chr4
26416886
G
A
intron_variant
MODIFIER
RBPJ
c.195-211G>A
chr4
26407729
G
A
intron_variant
MODIFIER
RBPJ
c.99-68G>A
chr4
26322534
C
CG
5_prime_UTR_variant
MODIFIER
RBPJ
c.-112dupG
chr4
5812778
G
A
3_prime_UTR_variant
MODIFIER
EVC
c.*14G>A
chr4
5812195
A
G
intron_variant
MODIFIER
EVC
c.2894+18A>G
chr4
5806366
T
C
intron_variant
MODIFIER
EVC
c.2450-91T>C