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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr4
167012506
A
G
intron_variant
MODIFIER
TLL1
c.2656+13A>G
chr4
167012480
T
C
synonymous_variant
LOW
TLL1
c.2643T>C
chr4
167012381
G
A
synonymous_variant
LOW
TLL1
c.2544G>A
chr4
166987125
A
G
intron_variant
MODIFIER
TLL1
c.2188+110A>G
chr4
166981408
T
TA
intron_variant
MODIFIER
TLL1
c.2007+68_2007+69insA
chr4
166965722
A
AT
intron_variant
MODIFIER
TLL1
c.1524+1151_1524+1152insT
chr4
166929276
A
G
intron_variant
MODIFIER
TLL1
c.917+76A>G
chr4
166929102
G
A
synonymous_variant
LOW
TLL1
c.819G>A
chr4
155460459
T
C
intron_variant
MODIFIER
PLRG1
c.1043-94A>G
chr4
120079387
G
A
intron_variant
MODIFIER
MYOZ2
c.376+81G>A
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
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
26417136
T
C
synonymous_variant
LOW
RBPJ
c.234T>C
chr4
26416886
G
A
intron_variant
MODIFIER
RBPJ
c.195-211G>A
chr4
26407729
G
A
intron_variant
MODIFIER
RBPJ
c.99-68G>A