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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr16
15820863
C
T
MYH11
c.3721G>A
p.Ala1241Thr
rs16967494
chr16
3831230
G
T
CREBBP
c.1651C>A
p.Leu551Ile
rs61753381
chr16
2164808
C
T
PKD1
c.2216G>A
p.Arg739Gln
rs40433
chr16
1616201
C
T
IFT140
c.1862G>A
p.Arg621Gln
rs11648609
chr16
1573890
G
A
IFT140
c.3209C>T
p.Ala1070Val
rs2235638
chr15
90320120
GAGGGGCAGGGGCAAGGGCAGGGGC
G
MESP2
c.558_581delGGGGCAGGGGCAAGGGCAGGGGCA
p.Gly187_Gln194del
rs200021459;~rs56192595
chr15
90196008
C
T
KIF7
c.154G>A
p.Asp52Asn
rs8179065
chr15
90191827
T
C
KIF7
c.1102A>G
p.Thr368Ala
rs8037349
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