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

Editor(s): Rima SLIM   

Home Page Tabular list Sequences Download Useful links Statistics Contact Submit a novel sequence variant Submit a novel complex allele

🔎

Total current number of sequence variants for NLRP7 : 258

*Name as first published or submitted to Infevers. May be different from the HGVS edited protein and sequence names.

** If you have new data: please send us a re-evaluation proposal here

HGVS sequence name
HGVS protein name
Usual name*
Classification**
Status**
Simple variant
Complex alleles
5 flanking
c.-13413_2982-344del
p.0
c.-13413_2982-344del
Not classifiedTo be validated
 2015-11-15
5 flanking
c.-7026_-40+230del
p.?
p.(?)
Not classifiedTo be validated
 2017-11-16
5 flanking
c.-3998_2130-668del
p.0
c.-3998_2130-668del
Not classifiedTo be validated
 2015-11-15
5 flanking
c.-122G>A
-
c.-122G>A
Not classifiedTo be validated
 2012-02-29
intron 1
c.-40+21C>T
-
c.-40+21C>T
Not classifiedTo be validated
 2008-03-07
intron 1
c.-40+34T>G
-
c.-40+34T>G
Not classifiedTo be validated
 2012-10-17
intron 1
c.-40+36C>T
-
c.-40+36C>T
Not classifiedTo be validated
 2008-03-07
intron 1
c.-40+121G>A
-
c.-40+121G>A
Not classifiedTo be validated
 2012-02-29
intron 1
c.-40+251_2130-681del
p.0
c.-40+251_2130-681del
Not classifiedTo be validated
 2015-11-15
intron 1
c.-39-1769_2129+228del
-
c.-39-1769_2129+228del
Not classifiedTo be validated
 2015-11-27
intron 1
c.-39-792C>T
-
c.-39-792C>T
Not classifiedTo be validated
 2008-07-11
intron 1
c.-39-427T>C
-
c.-39-427T>C
Not classifiedTo be validated
 2008-03-01
intron 1
c.-39-393G>A
-
c.-39-393G>A
Not classifiedTo be validated
 2008-03-01
intron 1
c.-39-387_2129+265dup
p.(Glu710Aspfs*7)
E710Dfs7X
Not classifiedTo be validated
 2007-12-26
intron 1
c.-39-300C>T
-
c.-39-300C>T
Not classifiedTo be validated
 2008-03-07
intron 1
c.-39-231_2130-510del
p.0
c.-39-231_2130-510del
Not classifiedTo be validated
 2014-09-22
intron 1
c.-39-90G>C
-
c.-39-90G>C
Not classifiedTo be validated
 2008-07-11
intron 1
c.-39-16C>T
-
c.-39-16C>T
Not classifiedTo be validated
 2008-01-03
exon 2
c.183delC
p.(Ser62Profs*6)
S62PfsX6
Not classifiedTo be validated
 2009-03-23
exon 2
c.197G>A
p.(Trp66*)
W66*
Not classifiedTo be validated
 2016-05-05
exon 2
c.219C>T
p.(=)
N73N
Not classifiedTo be validated
 2009-06-17
exon 2
c.251G>A
p.(Cys84Tyr)
C84Y
Not classifiedTo be validated
 2007-08-15
intron 2
c.277+1G>C
-
c.277+1G>C
Not classifiedTo be validated
 2011-09-02
intron 2
c.278-134C>T
-
c.278-134C>T
Not classifiedTo be validated
 2014-09-16
intron 2
c.278-68A>G
-
c.278-68A>G
Not classifiedTo be validated
 2012-06-28
exon 3
c.295G>T
p.(Glu99*)
E99X
Not classifiedTo be validated
 2007-05-28
exon 3
c.337dupG
p.(Glu113Glyfs*7)
E113GfsX7
Not classifiedTo be validated
 2009-03-23
exon 3
c.346A>T
p.(Lys116*)
K116X
Not classifiedTo be validated
 2009-04-03
intron 3
c.352+1G>A
p.(Gly118fs)
c.352+1G>A
Not classifiedTo be validated
 2006-08-10
intron 3
c.352+231G>A
-
c.352+231G>A
Not classifiedTo be validated
 2008-07-11
intron 3
c.353-235C>T
-
c.353-235C>T
Not classifiedTo be validated
 2008-07-11
intron 3
c.353-231C>A
-
c.353-231C>A
Not classifiedTo be validated
 2011-03-04
intron 3
c.353-227A>G
-
c.353-227A>G
Not classifiedTo be validated
 2011-03-04
intron 3
c.353-216C>G
-
c.353-216C>G
Not classifiedTo be validated
 2008-03-01
intron 3
c.353-178A>G
-
c.353-178A>G
Not classifiedTo be validated
 2008-03-01
intron 3
c.353-111C>T
-
c.353-111C>T
Not classifiedTo be validated
 2008-03-05
intron 3
c.353-71C>T
-
c.353-71C>T
Not classifiedTo be validated
 2008-05-16
intron 3
c.353-56A>G
-
c.353-56A>G
Not classifiedTo be validated
 2008-01-03
intron 3
c.353-52T>G
-
c.353-52T>G
Not classifiedTo be validated
 2011-03-04
exon 4
c.390G>A
p.(=)
Q130Q
Not classifiedTo be validated
 2006-08-11
exon 4
c.394_395del
p.(Leu132Glyfs*12)
L132Gfs*12
Not classifiedTo be validated
 2017-11-15
exon 4
c.418C>T
p.(Gln140*)
Q140*
Not classifiedTo be validated
 2017-11-16
exon 4
c.446A>G
p.(Asp149Gly)
D149G
Not classifiedTo be validated
 2012-10-30
exon 4
c.467G>A
p.(Arg156Gln)
R156Q
Not classifiedTo be validated
 2008-07-11
exon 4
c.544G>A
p.(Val182Met)
V182M
Not classifiedTo be validated
 2011-10-30
exon 4
c.574A>C
p.(Met192Leu)
M192L
Not classifiedTo be validated
 2008-07-11
exon 4
c.584G>A
p.(Trp195*)
W195X
Not classifiedTo be validated
 2015-11-27
exon 4
c.603C>T
p.(=)
S201S
Not classifiedTo be validated
 2007-10-31
exon 4
c.628C>T
p.(Leu210Phe)
L210F
Not classifiedTo be validated
 2011-03-04
exon 4
c.693G>A
p.(Trp231*)
W231X
Not classifiedTo be validated
 2012-07-14
exon 4
c.701T>C
p.(Leu234Ser)
L234S
Not classifiedTo be validated
 2010-02-03
exon 4
c.749T>G
p.(Phe250Cys)
F250C
Not classifiedTo be validated
 2010-07-22
exon 4
c.750C>A
p.(Phe250Leu)
F250L
Not classifiedTo be validated
 2010-04-06
exon 4
c.829A>C
p.(Lys277Gln)
K277Q
Not classifiedTo be validated
 2008-07-11
exon 4
c.835G>T
p.(Val279Leu)
V279L
Not classifiedTo be validated
 2012-10-30
exon 4
c.915A>C
p.(=)
A305A
Not classifiedTo be validated
 2009-06-17
exon 4
c.929A>G
p.(Gln310Arg)
Q310R
Not classifiedTo be validated
 2010-07-22
exon 4
c.930_931delGC
p.(Gln310Hisfs*38)
Q310Hfs*38
Not classifiedTo be validated
 2009-07-02
exon 4
c.930G>T
p.(Leu311His)
L311H
Not classifiedTo be validated
 2010-07-22
exon 4
c.931C>A
p.(Leu311Ile)
L311I
Not classifiedTo be validated
 2010-07-22
exon 4
c.939_952dup14
p.(Tyr318Cysfs*7)
Y318CfsX7
Not classifiedTo be validated
 2009-03-23
exon 4
c.955G>A
p.(Val319Ile)
V319I
Not classifiedTo be validated
 2006-08-25
exon 4
c.985A>C
p.(Arg329Lys)
R329K
Not classifiedTo be validated
 2007-11-21
exon 4
c.1017C>T
p.(=)
D339D
Not classifiedTo be validated
 2012-03-07
exon 4
c.1018G>A
p.(Glu340Lys)
E340K
Not classifiedTo be validated
 2011-01-12
exon 4
c.1018_1019delGA
p.(Glu340Glnfs*8)
E340Qfs*8
Not classifiedTo be validated
 2011-03-04
exon 4
c.1104T>C
p.(=)
I368I
Not classifiedTo be validated
 2009-06-17
exon 4
c.1104T>G
p.(Ile368Met)
I368M
Not classifiedTo be validated
 2011-01-13
exon 4
c.1137G>A
p.(=)
K379K
Not classifiedTo be validated
 2006-08-11
exon 4
c.1137G>C
p.(Lys379Asn)
K379N
Not classifiedTo be validated
 2007-08-15
exon 4
c.1138G>C
p.(Gly380Arg)
G380R
Not classifiedTo be validated
 2009-04-03
exon 4
c.1148C>T
p.(Pro383Leu)
P383L
Not classifiedTo be validated
 2012-10-30
exon 4
c.1168del
p.(Arg390Alafs*26)
R390Afs*26
Not classifiedTo be validated
 2017-11-16
exon 4
c.1169G>A
p.(Arg390His)
R390H
Not classifiedTo be validated
 2009-02-04
exon 4
c.1171A>G
p.(Thr391Ala)
T391A
Not classifiedTo be validated
 2012-10-30
exon 4
c.1182C>T
p.(=)
F394F
Not classifiedTo be validated
 2009-07-28
exon 4
c.1193T>G
p.(Leu398Arg)
L398R
Not classifiedTo be validated
 2009-03-23
exon 4
c.1196G>A
p.(Cys399Tyr)
C399Y
Not classifiedTo be validated
 2007-08-15
exon 4
c.1235T>C
p.(Leu412Pro)
L412P
Not classifiedTo be validated
 2012-10-30
exon 4
c.1237C>T
p.(Arg413Trp)
R413W
Not classifiedTo be validated
 2011-01-12
exon 4
c.1238G>A
p.(Arg413Gln)
R413Q
Not classifiedTo be validated
 2012-02-23
exon 4
c.1280T>C
p.(Met427Thr)
M427T
Not classifiedTo be validated
 2009-02-04
exon 4
c.1288T>C
p.(Phe430Leu)
F430L
Not classifiedTo be validated
 2009-03-03
exon 4
c.1290C>T
p.(=)
F430F
Not classifiedTo be validated
 2009-02-04
exon 4
c.1294C>T
p.(Arg432*)
R432X
Not classifiedTo be validated
 2008-07-11
exon 4
c.1302C>T
p.(=)
D434D
Not classifiedTo be validated
 2009-02-04
exon 4
c.1305G>T
p.(=)
L435L
Not classifiedTo be validated
 2012-02-29
exon 4
c.1362C>T
p.(=)
L454L
Not classifiedTo be validated
 2011-01-26
exon 4
c.1374_1375delAG
p.(Arg458Serfs*69)
R458Sfs*69
Not classifiedTo be validated
 2014-04-01
exon 4
c.1441G>A
p.(Ala481Thr)
A481T
Not classifiedTo be validated
 2007-10-17
exon 4
c.1456dupG
p.(Glu486Glyfs*42)
E486GfsX42
Not classifiedTo be validated
 2009-04-03
exon 4
c.1460G>A
p.(Gly487Glu)
G487E
Not classifiedTo be validated
 2007-10-23
exon 4
c.1480G>A
p.(Ala494Thr)
A494T
Not classifiedTo be validated
 2011-10-30
exon 4
c.1491C>T
p.(=)
I497I
Not classifiedTo be validated
 2007-10-17
exon 4
c.1492G>A
p.(Gly498Arg)
G498R
Not classifiedTo be validated
 2009-02-04
exon 4
c.1516G>T
p.(Gly506*)
G506*
Not classifiedTo be validated
 2017-11-16
exon 4
c.1517_1518ins22
p.(Glu508Aspfs*27)
E508DfsX27
Not classifiedTo be validated
 2013-06-25
exon 4
c.1532A>G
p.(Lys511Arg)
K511R
Not classifiedTo be validated
 2008-05-16
exon 4
c.1537C>T
p.(Pro513Ser)
P513S
Not classifiedTo be validated
 2012-03-07
exon 4
c.1548_1566dup;1566_1567insAF15169.2:g.106_419
p.?
c.1548_1566dup;1566_1567insAF15169.2:g.106_419
Not classifiedTo be validated
 2017-11-16
exon 4
c.1557del
p.(His520Thrfs*46)
H520Tfs*46
Not classifiedTo be validated
 2017-11-16
exon 4
c.1625_1700del76
p.(Met542Thrfs*2)
M542Tfs
Not classifiedTo be validated
 2010-04-06
exon 4
c.1708G>T
p.(Glu570*)
E570X
Not classifiedTo be validated
 2009-01-28
exon 4
c.1725G>T
p.(=)
L575L
Not classifiedTo be validated
 2007-10-23
exon 4
c.1770G>A
p.(=)
P590P
Not classifiedTo be validated
 2012-06-27
exon 4
c.1823C>T
p.(Ser608Phe)
S608F
Not classifiedTo be validated
 2012-10-30
exon 4
c.1908dup
p.(Glu637*)
E637*
Not classifiedTo be validated
 2015-10-22
intron 4
c.1931+18A>T
-
c.1931+18A>T
Not classifiedTo be validated
 2008-07-11
intron 4
c.1931+43C>T
-
c.1931+43C>T
Not classifiedTo be validated
 2008-07-11
intron 4
c.1931+49C>T
-
c.1931+49C>T
Not classifiedTo be validated
 2011-03-04
intron 4
c.1931+110T>C
-
c.1931+110T>C
Not classifiedTo be validated
 2008-07-11
intron 4
c.1931+176G>T
-
c.1931+176G>T
Not classifiedTo be validated
 2008-07-11
intron 4
c.1931+226C>G
-
c.1931+226C>G
Not classifiedTo be validated
 2008-07-11
intron 4
c.1932-296A>T
-
c.1932-296A>T
Not classifiedTo be validated
 2011-03-04
intron 4
c.1932-178delT
-
c.1932-178delT
Not classifiedTo be validated
 2008-03-01
intron 4
c.1932-146C>T
-
c.1932-146C>T
Not classifiedTo be validated
 2008-03-01
intron 4
c.1932-103G>C
-
c.1932-103G>C
Not classifiedTo be validated
 2008-03-01
intron 4
c.1932-71A>G
-
c.1932-71A>G
Not classifiedTo be validated
 2012-03-07
intron 4
c.1932-57T>C
-
c.1932-57T>C
Not classifiedTo be validated
 2008-03-01
intron 4
c.1932-53C>T
-
c.1932-53C>T
Not classifiedTo be validated
 2011-03-04
exon 5
c.1951C>T
p.(Pro651Ser)
P651S
Not classifiedTo be validated
 2009-03-23
exon 5
c.1970A>T
p.(Asp657Val)
D657V
Not classifiedTo be validated
 2007-05-28
exon 5
c.1981C>T
p.(Leu661Phe)
L661F
Not classifiedTo be validated
 2013-10-12
exon 5
c.2002T>C
p.(Cys668Arg)
C668R
Not classifiedTo be validated
 2017-11-15
exon 5
c.2018C>G
p.(Ser673*)
S673X
Not classifiedTo be validated
 2009-04-03
exon 5
c.2024G>C
p.(Ser675Thr)
S675T
Not classifiedTo be validated
 2009-06-17
exon 5
c.2030delT
p.(Leu677Profs*6)
L677PfsX6
Not classifiedTo be validated
 2009-03-24
exon 5
c.2077C>T
p.(Arg693Trp)
R693W
Not classifiedTo be validated
 2006-08-10
exon 5
c.2077C>G
p.(Arg693Gly)
R693G
Not classifiedTo be validated
 2009-02-10
exon 5
c.2078G>C
p.(Arg693Pro)
R693P
Not classifiedTo be validated
 2006-08-10
exon 5
c.2078G>A
p.(Arg693Gln)
R693Q
Not classifiedTo be validated
 2008-12-06
exon 5
c.2094C>T
p.(=)
H698H
Not classifiedTo be validated
 2008-06-23
exon 5
c.2095G>A
p.(Val699Ile)
V699I
Not classifiedTo be validated
 2009-06-17
exon 5
c.2101C>T
p.(Arg701Cys)
R701C
Not classifiedTo be validated
 2008-07-11
intron 5
c.2129+6T>C
-
c.2129+6T>C
Not classifiedTo be validated
 2008-05-16
intron 5
c.2129+38G>C
-
c.2129+38G>C
Not classifiedTo be validated
 2008-03-01
intron 5
c.2129+214C>T
-
c.2129+214C>T
Not classifiedTo be validated
 2008-07-11
intron 5
c.2129+313C>G
-
c.2129+313C>G
Not classifiedTo be validated
 2008-07-11
intron 5
c.2129+399G>A
-
c.2129+399G>A
Not classifiedTo be validated
 2008-07-11
intron 5
c.2129+432T>C
-
c.2129+432T>C
Not classifiedTo be validated
 2008-07-11
intron 5
c.2129+451C>T
-
c.2129+451C>T
Not classifiedTo be validated
 2008-07-11
intron 5
c.2130-718G>A
-
c.2130-718G>A
Not classifiedTo be validated
 2008-07-11
intron 5
c.2130-312_2300+736del1219
-
c.2130-312_2300+736del1219
Not classifiedTo be validated
 2010-04-06
intron 5
c.2130-304C>G
-
c.2130-304C>G
Not classifiedTo be validated
 2008-07-11
intron 5
c.2130-266_2300+782del
p.(Ile711_Arg767del)
delEx6
Not classifiedTo be validated
 2014-09-24
intron 5
c.2130-184delT
-
c.2130-184delT
Not classifiedTo be validated
 2011-03-04
intron 5
c.2130-57A>G
-
c.2130-57A>G
Not classifiedTo be validated
 2011-03-04
intron 5
c.2130-41T>G
-
c.2130-41T>G
Not classifiedTo be validated
 2008-03-01
intron 5
c.2130-7_2131del
p.(Ile711_Arg767del)
c.2130-7_2131del
Not classifiedTo be validated
 2014-09-22
intron 5
c.2130-2A>G
-
c.2130-2A>G
Not classifiedTo be validated
 2013-06-25
exon 6
c.2140G>A
p.(Val714Ile)
V714I
Not classifiedTo be validated
 2012-10-30
exon 6
c.2146C>G
p.(Pro716Ala)
P716A
Not classifiedTo be validated
 2009-03-23
exon 6
c.2147delC
p.(Pro716Leufs*21)
P716LfsX21
Not classifiedTo be validated
 2009-03-23
exon 6
c.2156C>T
p.(Ala719Val)
A719V
Not classifiedTo be validated
 2008-07-07
exon 6
c.2161C>T
p.(Arg721Trp)
R721W
Not classifiedTo be validated
 2008-06-23
exon 6
c.2162G>A
p.(Arg721Gln)
R721Q
Not classifiedTo be validated
 2009-12-17
exon 6
c.2165A>G
p.(Asp722Gly)
D722G
Not classifiedTo be validated
 2008-07-11
exon 6
c.2226C>T
p.(=)
I742I
Not classifiedTo be validated
 2012-10-17
exon 6
c.2227G>T
p.(Glu743*)
E743*
Not classifiedTo be validated
 2017-11-16
exon 6
c.2248C>G
p.(Leu750Val)
L750V
Not classifiedTo be validated
 2007-12-25
exon 6
c.2282G>A
p.(Cys761Tyr)
C761Y
Not classifiedTo be validated
 2009-03-23
intron 6
c.2300+12G>A
-
c.2300+12G>A
Not classifiedTo be validated
 2011-03-04
intron 6
c.2300+17C>A
-
c.2300+17C>A
Not classifiedTo be validated
 2008-01-03
intron 6
c.2300+34T>C
-
c.2300+34T>C
Not classifiedTo be validated
 2008-01-03
intron 6
c.2300+47A>G
-
c.2300+47A>G
Not classifiedTo be validated
 2009-07-28
intron 6
c.2300+57T>C
-
c.2300+57T>C
Not classifiedTo be validated
 2008-01-03
intron 6
c.2300+128C>T
-
c.2300+128C>T
Not classifiedTo be validated
 2008-03-01
intron 6
c.2300+322C>T
-
c.2300+322C>T
Not classifiedTo be validated
 2008-07-11
intron 6
c.2300+331A>G
-
c.2300+331A>G
Not classifiedTo be validated
 2008-07-11
intron 6
c.2300+340delT
-
c.2300+340delT
Not classifiedTo be validated
 2011-03-04
intron 6
c.2301-611_2377del
p.(Arg767Argfs*12)
c.2301-611_2377del
Not classifiedTo be validated
 2009-12-17
intron 6
c.2301-58A>G
-
c.2301-58A>G
Not classifiedTo be validated
 2011-03-04
intron 6
c.2301-44A>T
-
c.2301-44A>T
Not classifiedTo be validated
 2011-03-04
exon 7
c.2325G>A
p.(=)
P775P
Not classifiedTo be validated
 2009-02-04
exon 7
c.2327_2333del
p.(Glu776Glyfs*14)
E776Gfs*14
Not classifiedTo be validated
 2017-11-16
exon 7
c.2334G>A
p.(Trp778*)
W778X
Not classifiedTo be validated
 2009-04-03
exon 7
c.2364C>T
p.(=)
N788N
Not classifiedTo be validated
 2012-10-17
exon 7
c.2383C>T
p.(Arg795Cys)
R795C
Not classifiedTo be validated
 2009-06-17
exon 7
c.2444G>A
p.(Arg815His)
R815H
Not classifiedTo be validated
 2008-12-28
exon 7
c.2458delC
p.(Leu820Cysfs*29)
L820Cfs*29
Not classifiedTo be validated
 2014-04-01
exon 7
c.2468T>A
p.(Leu823*)
L823X
Not classifiedTo be validated
 2010-04-06
intron 7
c.2471+1G>A
p.(Leu825*)
c.2471+1G>A
Not classifiedTo be validated
 2006-08-10
intron 7
c.2471+47A>G
-
c.2471+47A>G
Not classifiedTo be validated
 2012-02-29
intron 7
c.2471+81_2471+82insG
-
c.2471+81_82ins
Not classifiedTo be validated
 2008-03-01
intron 7
c.2472-181G>A
-
c.2472-181G>A
Not classifiedTo be validated
 2008-07-11
intron 7
c.2472-126A>G
-
c.2472-126A>G
Not classifiedTo be validated
 2008-03-05
intron 7
c.2472-67A>G
-
c.2472-67A>G
Not classifiedTo be validated
 2008-03-01
exon 8
c.2482_2483delTG
p.(Cys828Serfs*40)
c.2482_2483delTG
Not classifiedTo be validated
 2012-07-14
exon 8
c.2497G>A
p.(Ala833Thr)
A833T
Not classifiedTo be validated
 2009-06-17
exon 8
c.2571dupC
p.(Ile858Hisfs*11)
I858HfsX11
Not classifiedTo be validated
 2009-12-17
exon 8
c.2616C>A
p.(Tyr872*)
Y872*
Not classifiedTo be validated
 2012-02-10
exon 8
c.2639T>C
p.(Leu880Ser)
L880S
Not classifiedTo be validated
 2008-05-16
intron 8
c.2642+114G>A
-
c.2642+114G>A
Not classifiedTo be validated
 2009-07-28
intron 8
c.2643-1390T>C
-
c.2643-1390T>C
Not classifiedTo be validated
 2008-07-11
intron 8
c.2643-364G>T
-
c.2643-364G>T
Not classifiedTo be validated
 2008-07-11
intron 8
c.2643-246T>G
-
c.2643-246T>G
Not classifiedTo be validated
 2008-07-11
exon 9
c.2682T>C
p.(=)
Y894Y
Not classifiedTo be validated
 2007-05-28
exon 9
c.2706C>T
p.(=)
A902A
Not classifiedTo be validated
 2008-03-01
exon 9
c.2721C>T
p.(=)
N907N
Not classifiedTo be validated
 2008-05-16
exon 9
c.2738A>G
p.(Asn913Ser)
N913S
Not classifiedTo be validated
 2006-08-10
exon 9
c.2759G>A
p.(Trp920*)
W920*
Not classifiedTo be validated
 2015-10-22
exon 9
c.2775A>G
p.(=)
A925A
Not classifiedTo be validated
 2007-05-28
exon 9
c.2777T>G
p.(Leu926*)
L926*
Not classifiedTo be validated
 2013-06-05
exon 9
c.2791_2792delTG
p.(Cys931*)
C931X
Not classifiedTo be validated
 2009-06-17
intron 9
c.2810+2T>G
-
c.2810+2T>G
Not classifiedTo be validated
 2007-12-25
intron 9
c.2810+26T>C
-
c.2810+26T>C
Not classifiedTo be validated
 2008-07-11
intron 9
c.2810+57T>C
-
c.2810+57T>C
Not classifiedTo be validated
 2008-03-01
intron 9
c.2810+98C>T
-
c.2810+98C>T
Not classifiedTo be validated
 2008-01-03
intron 9
c.2810+123G>A
-
c.2810+123G>A
Not classifiedTo be validated
 2008-01-03
intron 9
c.2810+126T>C
-
c.2810+126T>C
Not classifiedTo be validated
 2008-01-03
intron 9
c.2810+171T>A
-
c.2810+171T>A
Not classifiedTo be validated
 2008-03-01
intron 9
c.2810+176T>C
-
c.2810+176T>C
Not classifiedTo be validated
 2011-03-04
intron 9
c.2810+224G>A
-
c.2810+224G>A
Not classifiedTo be validated
 2008-07-11
intron 9
c.2810+276A>G
-
c.2810+276A>G
Not classifiedTo be validated
 2011-03-04
intron 9
c.2811-1214C>T
-
c.2811-1214C>T
Not classifiedTo be validated
 2008-07-11
intron 9
c.2811-695T>C
-
c.2811-695T>C
Not classifiedTo be validated
 2008-07-11
intron 9
c.2811-678C>A
-
c.2811-678C>A
Not classifiedTo be validated
 2008-07-11
intron 9
c.2811-559A>G
-
c.2811-559A>G
Not classifiedTo be validated
 2008-03-05
intron 9
c.2811-527C>T
-
c.2811-527C>T
Not classifiedTo be validated
 2011-03-04
intron 9
c.2811-523C>T
-
c.2811-523C>T
Not classifiedTo be validated
 2008-03-01
intron 9
c.2811-496T>C
-
c.2811-496T>C
Not classifiedTo be validated
 2008-03-01
intron 9
c.2811-416C>A
-
c.2811-416C>A
Not classifiedTo be validated
 2011-03-04
intron 9
c.2811-402C>T
-
c.2811-402C>T
Not classifiedTo be validated
 2008-03-01
intron 9
c.2811-399A>G
-
c.2811-399A>G
Not classifiedTo be validated
 2008-03-01
intron 9
c.2811-394G>T
-
c.2811-394G>T
Not classifiedTo be validated
 2008-03-01
intron 9
c.2811-376G>A
-
c.2811-376G>A
Not classifiedTo be validated
 2011-03-04
intron 9
c.2811-329A>G
-
c.2811-329A>G
Not classifiedTo be validated
 2008-03-01
intron 9
c.2811-312C>A
-
c.2811-312C>A
Not classifiedTo be validated
 2008-03-01
intron 9
c.2811-279G>T
-
c.2811-279G>T
Not classifiedTo be validated
 2011-03-04
intron 9
c.2811-228T>C
-
c.2811-228T>C
Not classifiedTo be validated
 2008-03-01
intron 9
c.2811-194A>T
-
c.2811-194A>T
Not classifiedTo be validated
 2011-03-04
intron 9
c.2811-178G>A
-
c.2811-178G>A
Not classifiedTo be validated
 2008-03-01
intron 9
c.2811-135C>T
-
c.2811-135C>T
Not classifiedTo be validated
 2008-07-11
intron 9
c.2811-114G>A
-
c.2811-114G>A
Not classifiedTo be validated
 2011-03-04
intron 9
c.2811-54T>G
-
c.2811-54T>G
Not classifiedTo be validated
 2008-01-03
intron 9
c.2811-37C>T
-
c.2811-37C>T
Not classifiedTo be validated
 2008-03-05
intron 9
c.2811-34T>G
-
c.2811-34T>G
Not classifiedTo be validated
 2008-03-01
intron 9
c.2811-28C>T
-
c.2811-28C>T
Not classifiedTo be validated
 2008-05-16
intron 9
c.2811-25G>C
-
c.2811-25G>C
Not classifiedTo be validated
 2008-08-21
intron 9
c.2811-23A>G
-
c.2811-23A>G
Not classifiedTo be validated
 2008-01-03
intron 9
c.2811-15G>A
-
c.2811-15G>A
Not classifiedTo be validated
 2014-09-16
exon 10
c.2891T>C
p.(Leu964Pro)
L964P
Not classifiedTo be validated
 2008-05-16
exon 10
c.2940_2941insC
p.(Gly981Argfs*19)
G981Rfs
Not classifiedTo be validated
 2013-10-20
intron 10
c.2981+29_2981+32del
-
c.2981+29_32delGTTT
Not classifiedTo be validated
 2008-01-03
intron 10
c.2981+33G>T
-
c.2981+33G>T
Not classifiedTo be validated
 2008-07-11
intron 10
c.2981+123T>C
-
c.2981+123T>C
Not classifiedTo be validated
 2008-03-01
intron 10
c.2981+142C>A
-
c.2981+142C>A
Not classifiedTo be validated
 2008-03-01
intron 10
c.2981+363T>C
-
c.2981+363T>C
Not classifiedTo be validated
 2011-03-04
intron 10
c.2982-401T>C
-
c.2982-401T>C
Not classifiedTo be validated
 2011-03-04
intron 10
c.2982-28delG
-
c.2982-28delG
Not classifiedTo be validated
 2008-01-03
intron 10
c.2982-2A>G
-
c.2982-2A>G
Not classifiedTo be validated
 2013-06-05
exon 11
c.3082A>G
p.(Thr1028Ala)
T1028A
Not classifiedTo be validated
 2007-10-17
3UT
c.*5C>T
-
c.*5C>T
Not classifiedTo be validated
 2011-03-04
3UT
c.*20C>T
-
c.*20C>T
Not classifiedTo be validated
 2011-03-04
3UT
c.*44G>A
-
c.*44G>A
Not classifiedTo be validated
 2011-03-04
3UT
c.*180G>C
-
c.*180G>C
Not classifiedTo be validated
 2008-03-05
3UT
c.*236C>T
-
c.*236C>T
Not classifiedTo be validated
 2011-03-04
3 flanking
c.*290T>C
-
c.*290T>C
Not classifiedTo be validated
 2008-03-01