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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr15
74473739
C
T
STRA6
c.1698G>A
p.Met566Ile
rs736118
chr15
49054772
C
A
CEP152
c.2378G>T
p.Ser793Ile
rs2289178
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
chr13
31891746
G
A
B3GALTL
c.1108G>A
p.Glu370Lys
rs1041073
chr12
112036753
GGCT
G
ATXN2
c.563_565delAGC
p.Gln188del
rs10560189
chr12
111993712
C
T
ATXN2
c.743G>A
p.Ser248Asn
rs7969300
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
49431094
T
C
KMT2D
c.10045A>G
p.Met3349Val
rs80149580
chr12
48398080
T
A
COL2A1
c.25A>T
p.Thr9Ser
rs3803183
chr12
48367976
C
T
COL2A1
c.4213G>A
p.Gly1405Ser
rs2070739
chr12
31256905
T
C
DDX11
c.2851T>C
p.Cys951Arg
rs1046458
chr12
31256546
G
A
DDX11
c.2567G>A
p.Arg856His
rs1046457
chr12
31249861
C
G
DDX11
c.1699C>G
p.Gln567Glu
rs2075322
chr12
31244665
C
T
DDX11
c.1102C>T
p.Pro368Ser
rs201612562
chr12
7343108
GGCCTCTGAGGCAGTGAGTGTTCTTGAGGTGGAAAGCCCAGGTGCA
G
PEX5
c.195_210+29delGTGAGTGTTCTTGAGGTGGAAAGCCCAGGTGCAGCCTCTGAGGCA
p.Ala65fs
.