MVK (NM_000431.4) sequence variants

Editor(s): Laurence CUISSET   

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      Reduce introns over px
    284 sequence variant(s) among 284  


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  V8L
  V8M  V8E  A10V
  P11S  G12R  K13*
  K13Q  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
  P83L  S85*  E93Qfs*38
  L97Cfs*36  D100N  V109L
  Y114Ifs*71  Y116H  L117P
  I119M  R124W  p.C173R
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  A148_Y149dup
  A148T  A148V  Y149*
  S150L  S150=  C152Wfs*6
  V151M  C152Y  T159Cfs*9
  C161R  C161Rfs*25  I164Rfs*6
  N166K  P167leu   P165L
  L168Hfs*16  D170=  G171R
  D172=  C173Y
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
  G211E  G211A  G212R
  G212del  L214Hfs*63  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  V250I  V250F
  N252S  L255P
Intron 8X
  c.768+23G>C  c.768+71C>A  c.769-103C>T
  c.769-97G>A  c.769-38C>T  c.769-7T>G
Exon 9 X
  F257I  I260=  V261A
  A262P  P263=  L264Sfs*2
  L264F  L265P  L265R
  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  N301Tfs*5  N301T
  Q302*  L308=  G309R
  G309S  G309V  V310L
  V310M  G311R  H312R
  S314=  L315Gfs*51  L315V
  C319R  C319S  V321A
  T322S  T322N  A324V
  R325=  G326R  S329N
  S329R  G333=  A334T
  G335S  G335D  G335A
  G335=  G336S  G338S
  G338D  C339S  T342A
  T342I  L343I  L343P
Intron 10X
  c.1039+1G>A  c.1039+1G>T  c.1039+2T>C
  c.1039+7C>T  c.1040-1G>A  c.1040-?_1191+?del
Exon 11 X
  P351S  V353del  P353Lfs*3
  T356R  T356M  K357Nfs*4
  Q358P  S362I  F365I
  F365S  D366Afs*110  C367S
  I372M  G376S  G376V
  V377I  S378P  I379N
  H380R  A382P  S384F
  D386N  R388*  Q390*
  Q390P  *397Rext*?
3' UTR X
  c.*11C>T  c.*35C>T  c.*58dupG
3' flanking X
No variants