MVK (NM_000431.4) sequence variants

Editor(s): Laurence CUISSET   

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      Reduce introns over px
    273 sequence variant(s) among 273  


Flanking region
UTR region
Exonic region
Intronic region
5' flanking X
  c.-1880_527+533del  c.-464_-463delGCinsTT  c.-325A>T
  c.-228G>A  c.-207T>A
X 5' UTR
Exon 1 X
No variants
Intron 1X
No variants
Exon 2 X
  p.0  p.0  E4*
  V5A  L6Gfs*16  V8M
  V8L  V8E  A10V
  P11S  G12R  K13Q
  K13*  K13Nfs*68  G18R
  E19K  H20N  H20P
  H20R  H20Q  A21V
  V22M  H24P  G25Wfs*55
  G25V  K26Sfs*52
Intron 2X
  c.78+2del  c.78+3A>G  c.78+10C>T
  c.78+61A>G  c.78+177G>A  c.79-62G>A
Exon 3 X
  V27Sfs*16  A28T  L29Rfs*5
  L35S  R36T  L39P
  R40W   R40L  L41R
  L41P  H44Qfs*35  L51F
  S52N  I56V  W62*
  W62*  S69T
Intron 3X
  c.226+2del  c.227-3C>G  c.227-1G>A
Exon 4 X
  D79Y  D79N  V80I
  S85*  E93Qfs*38  L97Cfs*36
  V109L  Y114Ifs*71  Y116H
  L117P  I119M  R124W
Intron 4X
  c.371+2T>A  c.371+8C>T  c.371+49A>G
  c.372-6T>C  c.372-3C>T
Exon 5 X
  A125_R176del  P127L  S128Pfs*58
  D130G  V132I  V132Efs*27
  W134*  S135L  S135=
  G140Rfs*47  A141Rfs*18  A141Gfs*46
  G142D  G144V  S146N
  A147T  A147A  A148T
  A148_Y149dup  A148V  Y149*
  S150L  S150=  C152Wfs*6
  V151M  C152Y  T159Cfs*9
  C161R  C161Rfs*25  I164Rfs*6
  N166K  P167leu   P165L
  L168Hfs*16  D170=  G171R
Intron 5X
No variants
Exon 6 X
  E180K  L182F  W188*
  A189V  Q191Kfs*5  G192E
  H197H  S201F  G202R
  G202E  V203Gfs*74  V203A
  D204E  N205D  T209A
Intron 6X
  c.631+3A>C  c.632-71A>G  c.632-18A>G
Exon 7 X
  G211A  G211E  G212R
  G212del  R215G  R215*
  R215Q  H217P  Q218*
  G219W  L224*
Intron 7X
  c.678-78del  c.678-1G>A  c.678-1G>C
Exon 8 X
  P228L  P228=  L230P
  L234P  T237S  T237N
  R241C  T243I  L246P
  V247Wfs*19  V250F   V250I
  N252S  L255P
Intron 8X
  c.768+23G>C  c.769-103C>T  c.769-97G>A
  c.769-38C>T  c.769-7T>G  c.769-7_769-6dup
Exon 9 X
  I260=  V261A  A262P
  P263=  L264Sfs*2  L264F
  L265R  L265P  I268K
  I268T  D269H  S272P
  S272F  S272F  R277C
  R277G  R277H  R277=
  V278A  L279P  M282T
  E284Kfs*17  A285Sfs*15  P286L
  P288L  Q290H  Y291D
  V293M  p.M300V
Intron 9X
  c.885+24G>A  c.885+117C>A  c.886-1G>A
Exon 10 X
  p.?  E296G  I298T
  D299N  N301T  N301Tfs*5
  Q302*  L308=  G309S
  G309V  V310L  V310M
  G311R  H312R  S314=
  L315Gfs*51  L315V  C319R
  C319S  V321A  T322S
  T322N  R325=  G326R
  S329N  S329R  G333=
  A334T  G335S  G335D
  G335A  G335=  G336S
  G338S  G338D  C339S
  T342A  T342I  L343I
  L343P  G347R
Intron 10X
  c.1039+1G>A  c.1039+1G>T  c.1039+2T>C
  c.1039+7C>T  c.1040-1G>A
Exon 11 X
  P353Lfs*3  V353del  T356R
  T356M  K357Nfs*4  Q358P
  S362I  F365I  F365S
  D366Afs*110  C367S  I372M
  G376S  G376V  V377I
  S378P  I379N  H380R
  A382P  S384F  D386N
  R388*  Q390*  Q390P
3' UTR X
  c.*11C>T  c.*35C>T  c.*58dupG
3' flanking X
No variants