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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr2
47278823
C
T
intron_variant
MODIFIER
TTC7A
c.2090-62C>T
chr2
47278786
G
T
intron_variant
MODIFIER
TTC7A
c.2090-99G>T
chr2
47277208
A
G
intron_variant
MODIFIER
TTC7A
c.2089+23A>G
chr2
47277207
C
A
intron_variant
MODIFIER
TTC7A
c.2089+22C>A
chr2
47277043
C
G
intron_variant
MODIFIER
TTC7A
c.1992-45C>G
chr2
47273668
G
A
intron_variant
MODIFIER
TTC7A
c.1919+98G>A
chr2
47256618
A
G
intron_variant
MODIFIER
TTC7A
c.1802+95A>G
chr2
47256297
C
T
intron_variant
MODIFIER
TTC7A
c.1642-66C>T
chr2
47251634
T
C
intron_variant
MODIFIER
TTC7A
c.1641+136T>C
chr2
47251555
G
T
intron_variant
MODIFIER
TTC7A
c.1641+57G>T
chr2
47251469
G
C
missense_variant
MODERATE
TTC7A
c.1612G>C
chr2
47250683
C
T
intron_variant
MODIFIER
TTC7A
c.1568+79C>T
chr2
47202314
C
T
intron_variant
MODIFIER
TTC7A
c.648+72C>T
chr2
44059159
A
T
missense_variant
MODERATE
ABCG5
c.329T>A
chr2
44059152
C
CT
frameshift_variant
HIGH
ABCG5
c.335dupA
chr2
44055527
T
C
intron_variant
MODIFIER
ABCG5
c.502-273A>G
chr2
44055446
G
A
intron_variant
MODIFIER
ABCG5
c.502-192C>T
chr2
39281730
G
C
intron_variant
MODIFIER
SOS1
c.720+25C>G
chr2
39251375
T
TCAC
intron_variant
MODIFIER
SOS1
c.1075-98_1075-97insGTG
chr2
39233500
G
A
intron_variant
MODIFIER
SOS1
c.2791+53C>T