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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr14
96871104
G
A
missense_variant
AK7
c.305G>A
p.Arg102Gln
chr13
31891746
G
A
missense_variant
B3GALTL
c.1108G>A
p.Glu370Lys
chr12
112036753
GGCT
G
disruptive_inframe_deletion
ATXN2
c.563_565delAGC
p.Gln188del
chr12
111993712
C
T
missense_variant
ATXN2
c.743G>A
p.Ser248Asn
chr12
57114869
T
C
missense_variant
NACA
c.445A>G
p.Lys149Glu
chr12
57114307
A
T
missense_variant
NACA
c.1007T>A
p.Val336Glu
chr12
57114100
A
G
missense_variant
NACA
c.1214T>C
p.Phe405Ser
chr12
57109931
A
T
missense_variant
NACA
c.1924T>A
p.Ser642Thr
chr12
57109792
A
G
missense_variant
NACA
c.2063T>C
p.Leu688Pro
chr12
51740416
C
CG
frameshift_variant
CELA1
c.6_7insC
p.Val3fs
chr12
51740415
A
AAG
frameshift_variant
CELA1
c.7_8insCT
p.Val3fs
chr12
51740407
CATAA
C
frameshift_variant&splice_region_variant
CELA1
c.12_15delTTAT
p.Leu4fs
chr12
51737607
G
A
missense_variant
CELA1
c.130C>T
p.Arg44Trp
chr12
48377898
G
A
missense_variant
COL2A1
c.1913C>T
p.Thr638Ile
chr12
48367976
C
T
missense_variant
COL2A1
c.4213G>A
p.Gly1405Ser
chr12
31256905
T
C
missense_variant
DDX11
c.2851T>C
p.Cys951Arg
chr12
31256546
G
A
missense_variant
DDX11
c.2567G>A
p.Arg856His
chr12
31249861
C
G
missense_variant
DDX11
c.1699C>G
p.Gln567Glu
chr12
2791205
A
G
missense_variant
CACNA1C
c.5678A>G
p.Lys1893Arg
chr12
2791132
A
G
missense_variant
CACNA1C
c.5605A>G
p.Met1869Val