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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr12
112942353
G
A
intron_variant
MODIFIER
PTPN11
c.1713-146G>A
chr12
112924216
G
A
intron_variant
MODIFIER
PTPN11
c.1225-63G>A
chr12
112895141
G
A
intron_variant
MODIFIER
PTPN11
c.756+1274G>A
chr12
112893675
GT
G
intron_variant
MODIFIER
PTPN11
c.643-78delT
chr12
112036797
C
T
synonymous_variant
LOW
ATXN2
c.522G>A
chr12
112036753
GGCT
G
disruptive_inframe_deletion
MODERATE
ATXN2
c.563_565delAGC
chr12
111993712
C
T
missense_variant
MODERATE
ATXN2
c.743G>A
chr12
111923417
A
G
intron_variant
MODIFIER
ATXN2
c.2937+100T>C
chr12
111895203
C
G
intron_variant
MODIFIER
ATXN2
c.3371-40G>C
chr12
111892685
T
C
intron_variant
MODIFIER
ATXN2
c.3745-1036A>G
chr12
109936254
G
T
intron_variant
MODIFIER
UBE3B
c.940+96G>T
chr12
109927687
A
T
intron_variant
MODIFIER
UBE3B
c.545-37A>T
chr12
57114869
T
C
missense_variant
MODERATE
NACA
c.445A>G
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
57111552
G
A
intron_variant
MODIFIER
NACA
c.1865-1562C>T
chr12
57111550
G
A
intron_variant
MODIFIER
NACA
c.1865-1560C>T
chr12
57111549
T
C
intron_variant
MODIFIER
NACA
c.1865-1559A>G
chr12
57111539
G
A
intron_variant
MODIFIER
NACA
c.1865-1549C>T