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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr10
73115942
G
A
missense_variant
MODERATE
SLC29A3
c.715G>A
chr10
73115941
T
C
synonymous_variant
LOW
SLC29A3
c.714T>C
chr10
73104056
A
G
splice_region_variant&intron_variant
LOW
SLC29A3
c.383+8A>G
chr10
72201219
G
A
intron_variant
MODIFIER
NODAL
c.193+12C>T
chr10
72195439
T
C
missense_variant
MODERATE
NODAL
c.494A>G
chr10
69969986
C
T
intron_variant
MODIFIER
MYPN
c.3794-57C>T
chr10
69966392
T
G
intron_variant
MODIFIER
MYPN
c.3660-135T>G
chr10
69959397
G
A
intron_variant
MODIFIER
MYPN
c.3493+65G>A
chr10
69959345
GCTGGGA
G
intron_variant
MODIFIER
MYPN
c.3493+14_3493+19delCTGGGA
chr10
69959242
C
A
missense_variant
MODERATE
MYPN
c.3403C>A
chr10
69959097
G
T
intron_variant
MODIFIER
MYPN
c.3286-28G>T
chr10
69956999
C
CA
intron_variant
MODIFIER
MYPN
c.3159-110_3159-109insA
chr10
69955140
T
A
intron_variant
MODIFIER
MYPN
c.3076-67T>A
chr10
69954290
G
A
intron_variant
MODIFIER
MYPN
c.3075+21G>A
chr10
69948844
T
C
synonymous_variant
LOW
MYPN
c.2886T>C
chr10
69935235
T
C
intron_variant
MODIFIER
MYPN
c.2703+17T>C
chr10
69935059
A
G
intron_variant
MODIFIER
MYPN
c.2565-21A>G
chr10
69934467
A
G
intron_variant
MODIFIER
MYPN
c.2564+54A>G
chr10
69934258
C
G
missense_variant
MODERATE
MYPN
c.2409C>G
chr10
69933969
G
A
missense_variant
MODERATE
MYPN
c.2120G>A