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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
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
chr12
51737607
G
A
CELA1
c.130C>T
p.Arg44Trp
rs17860299
chr12
51723499
T
C
CELA1
c.728A>G
p.Gln243Arg
rs17860364
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
7343108
GGCCTCTGAGGCAGTGAGTGTTCTTGAGGTGGAAAGCCCAGGTGCA
G
PEX5
c.195_210+29delGTGAGTGTTCTTGAGGTGGAAAGCCCAGGTGCAGCCTCTGAGGCA
p.Ala65fs
.
chr12
6711147
C
A
CHD4
c.417G>T
p.Glu139Asp
rs1639122