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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr9
103060386
T
G
intron_variant
MODIFIER
INVS
c.3091+94T>G
chr9
103059476
A
G
intron_variant
MODIFIER
INVS
c.3016+48A>G
chr9
103054951
T
C
synonymous_variant
LOW
INVS
c.2412T>C
chr9
103015184
T
C
splice_region_variant&intron_variant
LOW
INVS
c.1235-5T>C
chr9
101558609
G
A
synonymous_variant
LOW
ANKS6
c.165C>T
chr9
101553014
G
T
intron_variant
MODIFIER
ANKS6
c.360-126C>A
chr9
101552955
T
C
intron_variant
MODIFIER
ANKS6
c.360-67A>G
chr9
101546085
CT
C
intron_variant
MODIFIER
ANKS6
c.1112+149delA
chr9
101539865
G
C
intron_variant
MODIFIER
ANKS6
c.1568-129C>G
chr9
101539601
G
A
intron_variant
MODIFIER
ANKS6
c.1617+86C>T
chr9
101533220
C
T
missense_variant
MODERATE
ANKS6
c.1930G>A
chr9
101518675
G
A
intron_variant
MODIFIER
ANKS6
c.2326+27C>T
chr9
98211468
C
T
synonymous_variant
LOW
PTCH1
c.3687G>A
chr9
98209594
G
A
missense_variant
MODERATE
PTCH1
c.3944C>T
chr9
98056649
T
A
intron_variant
MODIFIER
FANCC
c.-79+23159A>T
chr9
97933252
T
C
intron_variant
MODIFIER
FANCC
c.521+109A>G
chr9
97873957
A
G
intron_variant
MODIFIER
FANCC
c.1155-38T>C
chr9
97873435
G
A
3_prime_UTR_variant
MODIFIER
FANCC
c.*43C>T
chr9
97869692
A
G
intron_variant
MODIFIER
FANCC
c.1330-141T>C
chr9
94538115
C
G
intron_variant
MODIFIER
ROR2
c.98-15G>C