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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr11
66135898
T
C
intron_variant
MODIFIER
SLC29A2
c.550+110A>G
chr11
66135179
C
T
intron_variant
MODIFIER
SLC29A2
c.648+64G>A
chr11
66134085
C
T
intron_variant
MODIFIER
SLC29A2
c.734-50G>A
chr11
66131974
CTT
C
intron_variant
MODIFIER
SLC29A2
c.1060-81_1060-80delAA
chr11
66131906
A
G
intron_variant
MODIFIER
SLC29A2
c.1060-11T>C
chr11
66131149
C
T
intron_variant
MODIFIER
SLC29A2
c.1260-131G>A
chr11
62384869
T
C
intron_variant
MODIFIER
B3GAT3
c.258-50A>G
chr11
62383715
G
C
splice_region_variant&intron_variant
LOW
B3GAT3
c.910-7C>G
chr11
48184983
G
T
intron_variant
MODIFIER
PTPRJ
c.3559-27G>T
chr11
48181721
G
T
intron_variant
MODIFIER
PTPRJ
c.3558+120G>T
chr11
48171793
T
C
intron_variant
MODIFIER
PTPRJ
c.3138+58T>C
chr11
48171225
C
T
intron_variant
MODIFIER
PTPRJ
c.3041+185C>T
chr11
48170870
T
G
intron_variant
MODIFIER
PTPRJ
c.3000-129T>G
chr11
48146622
G
A
missense_variant
MODERATE
PTPRJ
c.977G>A
chr11
48145375
A
C
missense_variant
MODERATE
PTPRJ
c.827A>C
chr11
47371484
AG
A
intron_variant
MODIFIER
MYBPC3
c.506-12delC
chr11
47364762
A
G
intron_variant
MODIFIER
MYBPC3
c.1224-63T>C
chr11
47362465
G
C
intron_variant
MODIFIER
MYBPC3
c.1927+89C>G
chr11
47356870
A
T
intron_variant
MODIFIER
MYBPC3
c.2738-110T>A
chr11
47354787
C
T
synonymous_variant
LOW
MYBPC3
c.3288G>A