NLRP7 (NM_001127255.1) sequence variants

Editor(s): Rima SLIM   

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      Reduce introns over px
    278 sequence variant(s) among 278  


Flanking region
UTR region
Exonic region
Intronic region
5' flanking X
  c.-13413_2982-344del  c.-7026_-40+2300del  c.-6831_-39-1586del
  c.-3998_2130-668del  c.-122G>A
X 5' UTR
No variants
Exon 1 X
No variants
Intron 1X
  c.-40+3G>C  c.-40+21C>T  c.-40+34T>G
  c.-40+36C>T  c.-40+121G>A  c.-40+251_2130-681del
  c.-39-1769_2129+228del  c.-39-792C>T  c.-39-427T>C
  c.-39-393G>A  c.-39-387_2129+265dup  c.-39-300C>T
  c.-39-231_2130-510del  c.-39-90G>C  c.-39-16C>T
Exon 2 X
  S62Pfs*6  W66*  N73=
Intron 2X
  c.277+1G>C  c.278-134C>T  c.278-68A>G
Exon 3 X
  E99*  E113Gfs*7  K116*
Intron 3X
  c.352+1G>A  c.352+231G>A  c.353-235C>T
  c.353-231C>A  c.353-227A>G  c.353-216C>G
  c.353-178A>G  c.353-111C>T  c.353-71C>T
  c.353-56A>G  c.353-52T>G
Exon 4 X
  Q130=  L132Gfs*12  Q140*
  D149G  R156Q  V182M
  T185del  M192L  W195*
  S201=  L210F  W231*
  L234S  F250C  F250L
  K277Q  V279L  A305=
  Q310R  Q310Hfs*38  L311H
  L311I  Q314Sfs*6  Y318Cfs*7
  V319I  R329K  D339=
  E340K  E340Qfs*11  I368=
  I368M  K379=  K379N
  G380R  P383L  R390Afs*26
  R390H  T391A  F394=
  L398R  C399Y  L412P
  R413W  R413Q  M427T
  F430L  F430=  R432*
  D434=  L435=  L454=
  R458Sfs*69  Y464*  A481T
  E486Gfs*42  G487E  A494T
  I497=  G498R  G506*
  E508Dfs*27  K511R  N512Tfs*4
  P513S  H520Tfs*46  p.?
  F538L  M542Tfs*2  E570*
  C574Lfs*4  L575=  E580*
  P590=  H613Rfs*8  S608F
  K619Nfs*18  S621Tfs*16  E637*
Intron 4X
  c.1931+18A>T  c.1931+43C>T  c.1931+49C>T
  c.1931+110T>C  c.1931+176G>T  c.1931+226C>G
  c.1932-296A>T  c.1932-178delT  c.1932-146C>T
  c.1932-103G>C  c.1932-71A>G  c.1932-57T>C
Exon 5 X
  P651S  W653*  D657V
  R659L  L661F  C668R
  S673*  S675T  L677Pfs*6
  R693G  R693W  R693Q
  R693P  H698=  V699I
  R701C  C704Y
Intron 5X
  c.2129+6T>C  c.2129+38G>C  c.2129+214C>T
  c.2129+313C>G  c.2129+399G>A  c.2129+432T>C
  c.2129+451C>T  c.2130-718G>A  c.2130-312_2300+736del
  c.2130-304C>G  c.2130-266_2300+782del  c.2130-184delT
  c.2130-57A>G  c.2130-41T>G  c.2130-7_2131del
Exon 6 X
  V714I  P716A  P716Lfs*21
  A719V  R721W  R721Q
  D722G  H735P  I742=
  E743*  L750V  C761Y
Intron 6X
  c.2300+12G>A  c.2300+17C>A  c.2300+34T>C
  c.2300+47A>G  c.2300+57T>C  c.2300+128C>T
  c.2300+322C>T  c.2300+331A>G  c.2300+340delT
  c.2301-611_2377del  c.2301-58A>G  c.2301-44A>T
Exon 7 X
  P775=  E776Gfs*14  W778*
  N788=  R795C  A798Qfs*6
  R815H  L820Cfs*29  L823*
Intron 7X
  c.2471+1G>A  c.2471+47A>G  c.2471+81_2471+82insG
  c.2472-181G>A  c.2472-126A>G  c.2472-67A>G
Exon 8 X
  C828Sfs*40  A833T  I858Hfs*11
  I858T  Y872*  L880S
Intron 8X
  c.2642+114G>A  c.2643-1390T>C  c.2643-364G>T
Exon 9 X
  Y894=  A902=  N907=
  N913S  W920*  W920*
  A925=  L926*  C931*
Intron 9X
  c.2810+2T>G  c.2810+26T>C  c.2810+57T>C
  c.2810+98C>T  c.2810+123G>A  c.2810+126T>C
  c.2810+171T>A  c.2810+176T>C  c.2810+224G>A
  c.2810+276A>G  c.2811-1214C>T  c.2811-695T>C
  c.2811-678C>A  c.2811-559A>G  c.2811-527C>T
  c.2811-523C>T  c.2811-496T>C  c.2811-416C>A
  c.2811-402C>T  c.2811-399A>G  c.2811-394G>T
  c.2811-376G>A  c.2811-329A>G  c.2811-312C>A
  c.2811-279G>T  c.2811-228T>C  c.2811-194A>T
  c.2811-178G>A  c.2811-135C>T  c.2811-114G>A
  c.2811-54T>G  c.2811-37C>T  c.2811-34T>G
  c.2811-28C>T  c.2811-25G>C  c.2811-23A>G
Exon 10 X
  L964P  G981Rfs*19
Intron 10X
  c.2981+29_2981+32del  c.2981+33G>T  c.2981+123T>C
  c.2981+142C>A  c.2981+363T>C  c.2982-401T>C
  c.2982-28delG  c.2982-2A>G
Exon 11 X
  D1021V  T1028A
3' UTR X
  c.*5C>T  c.*20C>T  c.*44G>A
3' flanking X
  c.*236C>T  c.*290T>C