SLC29A3 (NM_018344.6) sequence variants
(ENT3, HJCD, PHID, HCLAP)

Editor(s): Guilaine BOURSIER   

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    42 sequence variant(s) among 42  
 
 
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Flanking region
UTR region
Exonic region
Intronic region
 
5' flanking X
No variants
X 5' UTR
No variants
Exon 1 X
No variants
Intron 1X
No variants
Exon 2 X
  V4D  S13*  S15Pfs*86
  R18G  E47Rfs*54  K81Nfs*20
Intron 2X
  c.300+1G>A  c.300+1G>C  c.300+2T>G
Exon 3 X
  L107Pfs*39  F103*  V109I
  M116R
Intron 3X
  c.384-426_610+440del
Exon 4 X
  R134C  R134H  L139P
  T180A  S203P
Intron 4X
  c.610+1G>C
Exon 5 X
  G209R  D225G  A230T
  T236M  T236=
Intron 5X
  c.774-2A>G
Exon 6 X
  C311*  Y314Tfs*91  F316V
  P324L  I326V  L349Sfs*56
  R363W  R363Q  R386Q
  P391H  L424Sfs*29  G427S
  G437R  E444*  E447K
  T449R
3' UTR X
No variants
3' flanking X
No variants