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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr15
90191827
T
C
KIF7
c.1102A>G
p.Thr368Ala
rs8037349
chr15
90176073
C
A
KIF7
c.2873G>T
p.Ser958Ile
rs3803530
chr15
90174940
G
C
KIF7
c.2897C>G
p.Ala966Gly
.
chr15
90174824
C
T
KIF7
c.3013G>A
p.Gly1005Arg
rs12900805
chr15
74473739
C
T
STRA6
c.1698G>A
p.Met566Ile
rs736118
chr15
48807637
C
T
FBN1
c.1415G>A
p.Cys472Tyr
rs4775765
chr14
102568367
T
A
HSP90AA1
c.211A>T
p.Met71Leu
rs8005905
chr14
96922752
C
G
AK7
c.1167C>G
p.Asn389Lys
rs2369679
chr14
76543004
G
A
IFT43
c.280G>A
p.Asp94Asn
rs17783366
chr13
31891746
G
A
B3GALTL
c.1108G>A
p.Glu370Lys
rs1041073
chr13
31858836
A
T
B3GALTL
c.902A>T
p.Tyr301Phe
rs114184584
chr12
112036753
GGCT
G
ATXN2
c.563_565delAGC
p.Gln188del
rs10560189
chr12
57114307
A
T
NACA
c.1007T>A
p.Val336Glu
rs2958127
chr12
57114100
A
G
NACA
c.1214T>C
p.Phe405Ser
rs2926743
chr12
57109931
A
T
NACA
c.1924T>A
p.Ser642Thr
rs2926747
chr12
57109792
A
G
NACA
c.2063T>C
p.Leu688Pro
rs2958149
chr12
51740416
C
CG
CELA1
c.6_7insC
p.Val3fs
.
chr12
51740415
A
AAG
CELA1
c.7_8insCT
p.Val3fs
.
chr12
51740407
CATAA
C
CELA1
c.12_15delTTAT
p.Leu4fs
.
chr12
51739648
C
G
CELA1
c.30G>C
p.Gln10His
rs17860287