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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr10
69959242
C
A
missense_variant
MYPN
c.3403C>A
p.Pro1135Thr
chr10
69934258
C
G
missense_variant
MYPN
c.2409C>G
p.Ser803Arg
chr10
69933969
G
A
missense_variant
MYPN
c.2120G>A
p.Ser707Asn
chr10
69933921
G
A
missense_variant
MYPN
c.2072G>A
p.Ser691Asn
chr10
69926334
C
G
missense_variant
MYPN
c.1884C>G
p.Phe628Leu
chr9
101546410
C
T
missense_variant
ANKS6
c.937G>A
p.Asp313Asn
chr9
101533220
C
T
missense_variant
ANKS6
c.1930G>A
p.Val644Ile
chr9
98211572
T
A
missense_variant
PTCH1
c.3583A>T
p.Thr1195Ser
chr9
98209594
G
A
missense_variant
PTCH1
c.3944C>T
p.Pro1315Leu
chr9
94495608
T
C
missense_variant
ROR2
c.733A>G
p.Thr245Ala
chr9
94486321
C
T
missense_variant
ROR2
c.2455G>A
p.Val819Ile
chr8
100133706
T
G
stop_gained
VPS13B
c.1239T>G
p.Tyr413*
chr7
150696111
T
G
missense_variant
NOS3
c.894T>G
p.Asp298Glu
chr7
94043239
C
G
missense_variant
COL1A2
c.1645C>G
p.Pro549Ala
chr7
83037731
C
G
missense_variant
SEMA3E
c.623G>C
p.Arg208Pro
chr7
73969541
A
G
missense_variant
GTF2IRD1
c.2050A>G
p.Met684Val
chr7
73814749
G
C
missense_variant
CLIP2
c.2930G>C
p.Arg977Pro
chr7
73814702
C
A
missense_variant&splice_region_variant
CLIP2
c.2883C>A
p.Asp961Glu
chr7
55229255
G
A
missense_variant
EGFR
c.1562G>A
p.Arg521Lys
chr7
42088222
T
C
missense_variant
GLI3
c.547A>G
p.Thr183Ala