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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr7
73472050
C
T
intron_variant
MODIFIER
ELN
c.1501+24C>T
chr7
73470782
C
T
intron_variant
MODIFIER
ELN
c.1315+17C>T
chr7
73467650
CTGTGTG
CTG
intron_variant
MODIFIER
ELN
c.1096+14_1096+17delTGTG
chr7
73467650
CTGTGTG
C
intron_variant
MODIFIER
ELN
c.1096+12_1096+17delTGTGTG
chr7
55272826
G
A
intron_variant
MODIFIER
EGFR
c.3272-123G>A
chr7
55266417
T
C
synonymous_variant
LOW
EGFR
c.2709T>C
chr7
55249063
G
A
synonymous_variant
LOW
EGFR
c.2361G>A
chr7
55242609
A
G
intron_variant
MODIFIER
EGFR
c.2283+96A>G
chr7
55240461
G
C
intron_variant
MODIFIER
EGFR
c.1920-215G>C
chr7
55238874
T
A
synonymous_variant
LOW
EGFR
c.1887T>A
chr7
55238268
G
A
3_prime_UTR_variant
MODIFIER
EGFR
c.*31G>A
chr7
55229255
G
A
missense_variant
MODERATE
EGFR
c.1562G>A
chr7
55228053
A
T
intron_variant
MODIFIER
EGFR
c.1498+22A>T
chr7
55221655
G
A
intron_variant
MODIFIER
EGFR
c.748-49G>A
chr7
42187734
GCACA
G
intron_variant
MODIFIER
GLI3
c.367+87_367+90delTGTG
chr7
42088470
A
C
intron_variant
MODIFIER
GLI3
c.474-175T>G
chr7
42088222
T
C
missense_variant
MODERATE
GLI3
c.547A>G
chr7
42087966
A
G
intron_variant
MODIFIER
GLI3
c.679+124T>C
chr7
42064852
C
G
intron_variant
MODIFIER
GLI3
c.1356+11G>C
chr7
35293193
A
G
synonymous_variant
LOW
TBX20
c.39T>C