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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr9
103027226
C
CT
intron_variant
MODIFIER
INVS
c.1571+16_1571+17insT
chr9
102991932
G
A
intron_variant
MODIFIER
INVS
c.448-10G>A
chr9
101546410
C
T
missense_variant
MODERATE
ANKS6
c.937G>A
chr9
101546085
CT
C
intron_variant
MODIFIER
ANKS6
c.1112+149delA
chr9
101539865
G
C
intron_variant
MODIFIER
ANKS6
c.1568-129C>G
chr9
101533220
C
T
missense_variant
MODERATE
ANKS6
c.1930G>A
chr9
101518677
G
T
intron_variant
MODIFIER
ANKS6
c.2326+25C>A
chr9
98278644
C
A
intron_variant
MODIFIER
PTCH1
c.3+107G>T
chr9
98239147
A
G
splice_region_variant&intron_variant
LOW
PTCH1
c.1504-8T>C
chr9
98230924
AT
A
intron_variant
MODIFIER
PTCH1
c.2250+108delA
chr9
98229389
C
G
intron_variant
MODIFIER
PTCH1
c.2560+9G>C
chr9
98224360
C
G
intron_variant
MODIFIER
PTCH1
c.2561-80G>C
chr9
98221861
T
C
intron_variant
MODIFIER
PTCH1
c.2887+21A>G
chr9
98220550
A
G
synonymous_variant
LOW
PTCH1
c.2913T>C
chr9
98220322
A
C
synonymous_variant
LOW
PTCH1
c.3141T>G
chr9
98218474
G
GC
intron_variant
MODIFIER
PTCH1
c.3306+83_3306+84insG
chr9
98215968
C
G
intron_variant
MODIFIER
PTCH1
c.3307-66G>C
chr9
98211572
T
A
missense_variant
MODERATE
PTCH1
c.3583A>T
chr9
98209899
C
T
intron_variant
MODIFIER
PTCH1
c.3805-166G>A
chr9
98209594
G
A
missense_variant
MODERATE
PTCH1
c.3944C>T