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

Editor(s): Rima SLIM   

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Total current number of sequence variants for NLRP7 : 258

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

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