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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr15
23086364
GGCC
G
disruptive_inframe_deletion
NIPA1
c.45_47delGGC
p.Ala16del
chr14
102568367
T
A
missense_variant
HSP90AA1
c.211A>T
p.Met71Leu
chr14
96922752
C
G
missense_variant
AK7
c.1167C>G
p.Asn389Lys
chr13
95055404
G
A
missense_variant
GPC6
c.1601G>A
p.Arg534His
chr13
31891746
G
A
missense_variant
B3GALTL
c.1108G>A
p.Glu370Lys
chr12
112037000
G
C
missense_variant
ATXN2
c.319C>G
p.Leu107Val
chr12
112036753
GGCT
G
disruptive_inframe_deletion
ATXN2
c.563_565delAGC
p.Gln188del
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
51739648
C
G
missense_variant
CELA1
c.30G>C
p.Gln10His
chr12
51737607
G
A
missense_variant
CELA1
c.130C>T
p.Arg44Trp
chr12
51723499
T
C
missense_variant
CELA1
c.728A>G
p.Gln243Arg
chr12
48398080
T
A
missense_variant
COL2A1
c.25A>T
p.Thr9Ser
chr12
48367976
C
T
missense_variant
COL2A1
c.4213G>A
p.Gly1405Ser
chr12
31256905
T
C
missense_variant
DDX11
c.2851T>C
p.Cys951Arg