Page size
CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr12
112893675
GT
G
intron_variant
MODIFIER
PTPN11
c.643-78delT
chr12
112037000
G
C
missense_variant
MODERATE
ATXN2
c.319C>G
chr12
112036797
C
T
synonymous_variant
LOW
ATXN2
c.522G>A
chr12
112036753
GGCT
G
disruptive_inframe_deletion
MODERATE
ATXN2
c.563_565delAGC
chr12
111989979
C
A
intron_variant
MODIFIER
ATXN2
c.1051+105G>T
chr12
111895203
C
G
intron_variant
MODIFIER
ATXN2
c.3371-40G>C
chr12
111894072
C
T
intron_variant
MODIFIER
ATXN2
c.3517-12G>A
chr12
109962278
G
A
synonymous_variant
LOW
UBE3B
c.2538G>A
chr12
109927687
A
T
intron_variant
MODIFIER
UBE3B
c.545-37A>T
chr12
57114307
A
T
missense_variant
MODERATE
NACA
c.1007T>A
chr12
57114100
A
G
missense_variant
MODERATE
NACA
c.1214T>C
chr12
57112637
G
A
intron_variant
MODIFIER
NACA
c.1864+684C>T
chr12
57111880
GGGGGTGGGGTAGCTAGACCTCCTTTTGGGGAGGGAGGAGTTGCAGCTGGGGTTGTGGGTGCCCCTTTGT
G
intron_variant
MODIFIER
NACA
c.1864+1372_1864+1440delACAAAGGGGCACCCACAACCCCAGCTGCAACTCCTCCCTCCCCAAAAGGAGGTCTAGCTACCCCACCCC
chr12
57109931
A
T
missense_variant
MODERATE
NACA
c.1924T>A
chr12
57109792
A
G
missense_variant
MODERATE
NACA
c.2063T>C
chr12
57108203
A
G
synonymous_variant
LOW
NACA
c.2307T>C
chr12
57106810
G
A
intron_variant
MODIFIER
NACA
c.2640+36C>T
chr12
57106660
A
T
synonymous_variant
LOW
NACA
c.2673T>A
chr12
51740416
C
CG
frameshift_variant
HIGH
CELA1
c.6_7insC
chr12
51740415
A
AAG
frameshift_variant
HIGH
CELA1
c.7_8insCT