NLRP7 (NM_001127255.1) sequence variants
(NALP7/PYPAF3/NOD12/PAN7/CLR19.4)

Editor(s): Rima SLIM   

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    264 sequence variant(s) among 264  
 
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Flanking region
UTR region
Exonic region
Intronic region
 
5' flanking X
  c.-13413_2982-344del  c.-7026_-40+230del  c.-3998_2130-668del
  c.-122G>A
X 5' UTR
No variants
Exon 1 X
No variants
Intron 1X
  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=
  C84Y
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
  p.T185del  M192L  W195*
  S201=  L210F  W231*
  L234S  F250C  F250L
  K277Q  V279L  A305=
  Q310R  Q310Hfs*38  L311H
  L311I  Y318Cfs*7  V319I
  R329K  D339=  E340Qfs*11
  E340K  I368=  I368M
  K379N  K379=  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  P513S  H520Tfs*46
  p.?  M542Tfs*2  E570*
  L575=  P590=  S608F
  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
  c.1932-53C>T
Exon 5 X
  P651S  D657V  R659L
  L661F  C668R  S673*
  S675T  L677Pfs*6  R693G
  R693W  R693Q  R693P
  H698=  V699I  R701C
  p.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+736del1219
  c.2130-304C>G  c.2130-266_2300+782del  c.2130-184delT
  c.2130-57A>G  c.2130-41T>G  c.2130-7_2131del
  c.2130-2A>G
Exon 6 X
  V714I  P716A  P716Lfs*21
  A719V  R721W  R721Q
  D722G  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  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
  c.2643-246T>G
Exon 9 X
  Y894=  A902=  N907=
  N913S  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
  c.2811-15G>A
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
  p.D1021V  T1028A
3' UTR X
  c.*5C>T  c.*20C>T  c.*44G>A
  c.*180G>C  c.*236C>T
3' flanking X
  c.*290T>C