The UMD-APC mutations database
All mutations (3717 records)

    Request ID: 151229005772

Old nomenclature cDNA Nomenclature exon mRNA nomenclature Protein nomenclature Functional Domain Biological significance Validation by Validation date # records
1_135del
c.1_135del
1
p.Met1?
Causal
unvalidated
00/00/00
2   
1_1958del
c.1_1958del
1
p.Met1?
Causal
unvalidated
00/00/00
3   
1_422del
c.1_422del
1
p.Met1?
Causal
unvalidated
00/00/00
8   
1_531del
c.1_531del
1
p.Met1?
Causal
unvalidated
00/00/00
3   
1_834del
c.1_834del
1
p.Met1?
Causal
unvalidated
00/00/00
5   
1_8532del
c.1_8532del
1
p.Met1?
Causal
unvalidated
00/00/00
116   
IVS1-82A>C (36-82A>C)
c.IVS1-82A>C (c.136-82A>C)
2
Dimerization domain
UV
French MMR network
27/02/15
1   
147_150delACAA
c.147_150delACAA
2
p.Lys49AsnfsX20
Dimerization domain
Causal
unvalidated
00/00/00
13   
148C>T
c.148C>T
2
p.Gln50X
Dimerization domain
Causal
unvalidated
00/00/00
2   
180_181delinsC
c.180_181delinsC
2
p.Met60_Asp67delinsIle
Causal
French MMR network
25/02/15
1   
209_212delAGCG
c.209_212delAGCG
2
p.Glu70ValfsX7
Causal
unvalidated
00/00/00
6   
IVS2-11A>G (21-11A>G)
c.IVS2-11A>G (c.221-11A>G)
2-3
UV
French MMR network
27/02/15
1   
IVS2-1G>C (21-1G>C)
c.IVS2-1G>C (c.221-1G>C)
2-3
Causal
unvalidated
00/00/00
1   
IVS2-2A>G (21-2A>G)
c.IVS2-2A>G (c.221-2A>G)
2-3
Causal
unvalidated
00/00/00
6   
228_237dup
c.228_237dup
3
p.Ser80LeufsX3
Causal
unvalidated
00/00/00
6   
250G>T
c.250G>T
3
p.Gly84X
Causal
unvalidated
00/00/00
7   
268A>T
c.268A>T
3
p.Lys90X
Causal
unvalidated
00/00/00
3   
288T>A
c.288T>A
3
p.Tyr96X
Causal
unvalidated
00/00/00
6   
288T>G
c.288T>G
3
p.Tyr96X
Causal
unvalidated
00/00/00
4   
295C>T
c.295C>T
3
p.Arg99Trp
UV
unvalidated
00/00/00
6   
298dup
c.298dup
3
p.Glu100GlyfsX39
Causal
unvalidated
00/00/00
1   
301G>T
c.301G>T
3
p.Gly101X
Causal
unvalidated
00/00/00
1   
311C>G
c.311C>G
3
p.Ser104X
Causal
unvalidated
00/00/00
9   
311C>T
c.311C>T
3
p.Ser104Leu
UV
French MMR network
25/02/15
1   
344dup
c.344dup
3
p.Met115IlefsX24
Causal
unvalidated
00/00/00
1   
358A>T
c.358A>T
3
p.Arg120X
Causal
unvalidated
00/00/00
1   
361A>T
c.361A>T
3
p.Arg121X
Causal
unvalidated
00/00/00
1   
IVS2-1G>A (21-1G>A)
c.IVS2-1G>A (c.221-1G>A)
3
Causal
unvalidated
00/00/00
13   
IVS2-29G>C (21-29G>C)
c.IVS2-29G>C (c.221-29G>C)
3
UV
unvalidated
00/00/00
1   
IVS2-9A>G (21-9A>G)
c.IVS2-9A>G (c.221-9A>G)
3
UV
French MMR network
27/02/15
3   
366delG
c.366delG
3
p.Phe123LeufsX2
Causal
unvalidated
00/00/00
3   
399T>G
c.399T>G
3
p.Tyr133X
Causal
unvalidated
00/00/00
1   
408delA
c.408delA
3
p.Glu136AspfsX34
Causal
unvalidated
00/00/00
2   
423G>T
c.423G>T
3-4
p.Arg141Ser
Causal
unvalidated
00/00/00
20   
423_531del
c.423_531del
3-4
p.Arg141SerfsX8
Causal
unvalidated
00/00/00
8   
IVS3+2T>A (22+2T>A)
c.IVS3+2T>A (c.422+2T>A)
3-4
Causal
unvalidated
00/00/00
13   
IVS3-9A>G (23-9A>G)
c.IVS3-9A>G (c.423-9A>G)
3-4
Causal
unvalidated
00/00/00
3   
432delT
c.432delT
4
p.Ala146LeufsX24
Causal
unvalidated
00/00/00
5   
435_441dup
c.435_441dup
4
p.Leu148CysfsX2
Causal
unvalidated
00/00/00
4   
449A>T
c.449A>T
4
p.Lys150Ile
UV
French MMR network
25/02/15
2   
450A>G
c.450A>G
4
p.Lys150Lys
Likely Neutral
unvalidated
00/00/00
2   
457A>C
c.457A>C
4
p.Lys153Gln
Likely Neutral
unvalidated
00/00/00
1   
464_465delAA
c.464_465delAA
4
p.Lys155ArgfsX12
Causal
unvalidated
00/00/00
2   
469_470delTG
c.469_470delTG
4
p.Trp157ValfsX10
Causal
unvalidated
00/00/00
1   
470G>A
c.470G>A
4
p.Trp157X
Causal
unvalidated
00/00/00
5   
471G>A
c.471G>A
4
p.Trp157X
Causal
unvalidated
00/00/00
2   
474T>G
c.474T>G
4
p.Tyr158X
Causal
unvalidated
00/00/00
12   
476dup
c.476dup
4
p.Tyr159X
Causal
unvalidated
00/00/00
1   
477C>T
c.477C>T
4
p.Tyr159Tyr
UV
French MMR network
25/02/15
5   
479insTAAG
c.479insTAAG
4
p.Ala160ValfsX9
Causal
unvalidated
00/00/00
2   
481C>T
c.481C>T
4
p.Gln161X
Causal
unvalidated
00/00/00
1   
502A>T
c.502A>T
4
p.Arg168X
Causal
unvalidated
00/00/00
4   
509_512delATAG
c.509_512delATAG
4
p.Asp170ValfsX4
Causal
unvalidated
00/00/00
39   
510_511delTA
c.510_511delTA
4
p.Asp170GlufsX6
Causal
unvalidated
00/00/00
1   
511dup
c.511dup
4
p.Ser171LysfsX6
Causal
unvalidated
00/00/00
4   
512_513delGT
c.512_513delGT
4
p.Ser171ThrfsX5
Causal
unvalidated
00/00/00
2   
518_524del
c.518_524del
4
p.Pro173LeufsX10
Causal
unvalidated
00/00/00
3   
532_834del
c.532_834del
5
p.Phe178_Gln278del
Causal
unvalidated
00/00/00
1   
532_8532del
c.532_8532del
5
p.Phe178fsX8
Causal
unvalidated
00/00/00
1   
IVS4-14del3 (32-14del3)
c.IVS4-14del3 (c.532-14del3)
5
Neutral
unvalidated
00/00/00
1   
IVS4-1G>A (32-1G>A)
c.IVS4-1G>A (c.532-1G>A)
5
Causal
unvalidated
00/00/00
5   
IVS4-1insAAAC
(32-1insAAAC)
c.IVS4-1insAAAC (c.532-1insAAAC)
5
Causal
French MMR network
25/02/15
6   
IVS4-8G>A (32-8G>A)
c.IVS4-8G>A (c.532-8G>A)
5
Causal
unvalidated
00/00/00
2   
543_546delAACA
c.543_546delAACA
5
p.Thr182IlefsX2
Causal
unvalidated
00/00/00
1   
544dup
c.544dup
5
p.Thr182AsnfsX11
Causal
unvalidated
00/00/00
1   
556delA
c.556delA
5
p.Arg186GlufsX19
Causal
unvalidated
00/00/00
4   
561delG
c.561delG
5
p.Arg187SerfsX18
Causal
unvalidated
00/00/00
1   
562C>T
c.562C>T
5
p.Gln188X
Causal
unvalidated
00/00/00
4   
568delG
c.568delG
5
p.Glu190AsnfsX15
Causal
unvalidated
00/00/00
1   
568G>T
c.568G>T
5
p.Glu190X
Causal
unvalidated
00/00/00
2   
573T>G
c.573T>G
5
p.Tyr191X
Causal
unvalidated
00/00/00
1   
586_588delinsTT
c.586_588delinsTT
5
Causal
French MMR network
4/03/15
1   
598delA
c.598delA
5
p.Met200TrpfsX5
Causal
unvalidated
00/00/00
1   
607C>G
c.607C>G
5
p.Gln203Glu
UV
unvalidated
00/00/00
4   
622C>T
c.622C>T
5
p.Gln208X
Causal
unvalidated
00/00/00
2   
637C>T
c.637C>T
5
p.Arg213X
Causal
unvalidated
00/00/00
83   
638G>A
c.638G>A
5
p.Arg213Gln
Likely Neutral
unvalidated
00/00/00
1   
IVS5+1G>A (45+1G>A)
c.IVS5+1G>A (c.645+1G>A)
5
Causal
unvalidated
00/00/00
2   
IVS5+32C>T (45+32C>T)
c.IVS5+32C>T (c.645+32C>T)
5
Neutral
unvalidated
00/00/00
10   
IVS5+42C>T (45+42C>T)
c.IVS5+42C>T (c.645+42C>T)
5
Neutral
unvalidated
00/00/00
1   
IVS5+61C>T (45+61C>T)
c.IVS5+61C>T (c.645+61C>T)
5
Likely Neutral
unvalidated
00/00/00
4   
646C>T
c.646C>T
6
p.Arg216X
Causal
unvalidated
00/00/00
40   
646_8532del
c.646_8532del
6
p.Arg216fsX2
Causal
unvalidated
00/00/00
2   
IVS5-1G>A (46-1G>A)
c.IVS5-1G>A (c.646-1G>A)
6
Causal
unvalidated
00/00/00
2   
IVS5-2A>T (46-2A>T)
c.IVS5-2A>T (c.646-2A>T)
6
Causal
unvalidated
00/00/00
4   
667C>T
c.667C>T
6
p.Gln223X
Causal
unvalidated
00/00/00
3   
679insC
c.679insC
6
p.Asp227ArgfsX25
Causal
unvalidated
00/00/00
1   
688C>T
c.688C>T
6
p.Arg230Cys
UV
unvalidated
00/00/00
1   
694C>T
c.694C>T
6
p.Arg232X
Causal
unvalidated
00/00/00
46   
704dup
c.704dup
6
p.Leu235PhefsX17
Causal
unvalidated
00/00/00
1   
704T>A
c.704T>A
6
p.Leu235X
Causal
unvalidated
00/00/00
2   
705A>G
c.705A>G
6
p.Leu235Leu
Neutral
unvalidated
00/00/00
6   
712C>T
c.712C>T
6
p.Gln238X
Causal
unvalidated
00/00/00
3   
532_729dup
c.532_729dup
7
p.Phe178_Glu243dup
UV
French MMR network
27/02/15
1   
730_834del
c.730_834del
7
p.Arg244_Gln278del
Causal
unvalidated
00/00/00
1   
IVS6-19G>C (30-19G>C)
c.IVS6-19G>C (c.730-19G>C)
7
UV
unvalidated
00/00/00
2   
IVS6-1G>C (30-1G>C)
c.IVS6-1G>C (c.730-1G>C)
7
Causal
unvalidated
00/00/00
2   
IVS6-29A>T (30-29A>T)
c.IVS6-29A>T (c.730-29A>T)
7
Neutral
unvalidated
00/00/00
2   
IVS6-3C>G (30-3C>G)
c.IVS6-3C>G (c.730-3C>G)
7
Causal
unvalidated
00/00/00
7   
778C>T
c.778C>T
7
p.Gln260X
Causal
unvalidated
00/00/00
26   
797dup
c.797dup
7
p.Glu268ArgfsX9
Causal
unvalidated
00/00/00
2   
824delG
c.824delG
7
p.Gly275ValfsX18
Causal
unvalidated
00/00/00
9   
832C>T
c.832C>T
7
p.Gln278X
Causal
unvalidated
00/00/00
1   
IVS7+1G>A (34+1G>A)
c.IVS7+1G>A (c.834+1G>A)
7
Causal
unvalidated
00/00/00
7   
835_1312del
c.835_1312del
8
p.Gly279CysfsX16
Causal
unvalidated
00/00/00
1   
835_8532del
c.835_8532del
8
p.Gly279fsX43
Causal
unvalidated
00/00/00
13   
IVS7-1G>A (35-1G>A)
c.IVS7-1G>A (c.835-1G>A)
8
Causal
unvalidated
00/00/00
10   
IVS7-24A>T (35-24A>T)
c.IVS7-24A>T (c.835-24A>T)
8
Neutral
unvalidated
00/00/00
2   
IVS7-3T>C (35-3T>C)
c.IVS7-3T>C (c.835-3T>C)
8
Neutral
unvalidated
00/00/00
2   
838delT
c.838delT
8
p.Ser280GlnfsX13
Causal
unvalidated
00/00/00
1   
839C>A
c.839C>A
8
p.Ser280X
Causal
unvalidated
00/00/00
3   
839C>G
c.839C>G
8
p.Ser280X
Causal
unvalidated
00/00/00
1   
847C>T
c.847C>T
8
p.Arg283X
Causal
unvalidated
00/00/00
35   
848G>A
c.848G>A
8
p.Arg283Gln
UV
unvalidated
00/00/00
1   
865delG
c.865delG
8
p.Ala289ProfsX4
Causal
unvalidated
00/00/00
1   
862_868dup
c.862_868dup
8
p.Ser290AsnfsX8
Causal
unvalidated
00/00/00
4   
875insTTGAGTT
c.875insTTGAGTT
8
p.Leu292PhefsX6
Causal
unvalidated
00/00/00
1   
886delA
c.886delA
8
p.Ser296AlafsX9
Causal
unvalidated
00/00/00
1   
893_894delAC
c.893_894delAC
8
p.His298LeufsX28
Causal
unvalidated
00/00/00
5   
896_897delCT
c.896_897delCT
8
p.Ser299CysfsX27
Causal
unvalidated
00/00/00
1   
900_901delAC
c.900_901delAC
8
p.Pro301SerfsX25
Causal
unvalidated
00/00/00
10   
904C>T
c.904C>T
8
p.Arg302X
Causal
unvalidated
00/00/00
7   
912_915dup
c.912_915dup
8
p.Ser306AspfsX22
Causal
unvalidated
00/00/00
1   
922C>G
c.922C>G
8
p.Leu308Val
UV
unvalidated
00/00/00
1   
933G>C
c.933G>C
8
p.Lys311Asn
UV
unvalidated
00/00/00
1   
IVS8+1G>A (33+1G>A)
c.IVS8+1G>A (c.933+1G>A)
8
Causal
unvalidated
00/00/00
1   
IVS8+2T>C (33+2T>C)
c.IVS8+2T>C (c.933+2T>C)
8
Causal
unvalidated
00/00/00
1   
IVS8+30A>G (33+30A>G)
c.IVS8+30A>G (c.933+30A>G)
8
Neutral
unvalidated
00/00/00
2   
934_1408del
c.934_1408del
9
p.Val312GlyfsX28
Causal
unvalidated
00/00/00
2   
934_2312del ?
c.934_2312del ?
9
Causal
unvalidated
00/00/00
1   
934_2408del ?
c.934_2408del ?
9
p.Glu313_His361del
Causal
unvalidated
00/00/00
5   
934_8532del
c.934_8532del
9
p.Val312fsX17
Causal
unvalidated
00/00/00
10   
IVS8-118G>T (34-118G>T)
c.IVS8-118G>T (c.934-118G>T)
9
UV
French MMR network
27/02/15
1   
IVS8-119C>G (34-119C>G)
c.IVS8-119C>G (c.934-119C>G)
9
Neutral
unvalidated
00/00/00
3   
IVS8-120G>C (34-120G>C)
c.IVS8-120G>C (c.934-120G>C)
9
Neutral
unvalidated
00/00/00
3   
IVS8-132G>T (34-132G>T)
c.IVS8-132G>T (c.934-132G>T)
9
Likely Neutral
unvalidated
00/00/00
11   
IVS8-92G>C (34-92G>C)
c.IVS8-92G>C (c.934-92G>C)
9
Likely Neutral
unvalidated
00/00/00
3   
988_989delAT
c.988_989delAT
9
p.Met330ValfsX9
Causal
unvalidated
00/00/00
1   
989delT
c.989delT
9
p.Met330SerfsX6
Causal
unvalidated
00/00/00
3   
994C>T
c.994C>T
9
p.Arg332X
Causal
unvalidated
00/00/00
82   
1026insG
c.1026insG
9
p.Asp342GlufsX23
Causal
unvalidated
00/00/00
1   
1028_1029dup
c.1028_1029dup
9
p.Cys344AlafsX111
Causal
unvalidated
00/00/00
2   
1049_1050delCT
c.1049_1050delCT
9
p.Ser350TrpfsX14
Causal
unvalidated
00/00/00
2   
1072C>T
c.1072C>T
9
p.Gln358X
Causal
unvalidated
00/00/00
1   
1095delA
c.1095delA
9
p.Asp366ThrfsX88
Causal
unvalidated
00/00/00
8   
1100_1101delCT
c.1100_1101delCT
9
p.Ser367CysfsX10
Causal
unvalidated
00/00/00
17   
1121G>A
c.1121G>A
9
p.Arg374Gln
Neutral
unvalidated
00/00/00
2   
1121_1143del
c.1121_1143del
9
p.Arg374GlnfsX15
Causal
unvalidated
00/00/00
7   
1139G>A
c.1139G>A
9
p.Arg380Gln
UV
unvalidated
00/00/00
1   
1175A>T
c.1175A>T
9
p.His392Leu
UV
unvalidated
00/00/00
1   
1180_1181delCA
c.1180_1181delCA
9
p.Gln394AlafsX2
Causal
unvalidated
00/00/00
1   
1192A>T
c.1192A>T
9
p.Lys398X
Causal
unvalidated
00/00/00
5   
1201delA
c.1201delA
9
p.Arg401GlyfsX53
Causal
unvalidated
00/00/00
1   
1210delA
c.1210delA
9
p.Ile404SerfsX50
Causal
unvalidated
00/00/00
5   
1213C>T
c.1213C>T
9
p.Arg405X
Causal
unvalidated
00/00/00
22   
1230G>A
c.1230G>A
9
p.Leu410Leu
Causal
unvalidated
00/00/00
2   
1234C>T
c.1234C>T
9
p.Gln412X
Causal
unvalidated
00/00/00
1   
1238dup
c.1238dup
9
p.Arg414ThrfsX5
Causal
unvalidated
00/00/00
3   
1238_1239delTA
c.1238_1239delTA
9
p.Ile413ThrfsX5
Causal
unvalidated
00/00/00
3   
1239dup
c.1239dup
9
p.Arg414ThrfsX5
Causal
unvalidated
00/00/00
2   
1240C>T
c.1240C>T
9
p.Arg414Cys
UV
unvalidated
00/00/00
5   
1240delC
c.1240delC
9
p.Arg414AlafsX40
Causal
unvalidated
00/00/00
1   
1242C>T
c.1242C>T
9
p.Arg414Arg
UV
unvalidated
00/00/00
1   
1242delC
c.1242delC
9
p.Ala415LeufsX39
Causal
unvalidated
00/00/00
3   
1247dup
c.1247dup
9
p.Tyr416X
Causal
unvalidated
00/00/00
4   
1248C>G
c.1248C>G
9
p.Tyr416X
Causal
French MMR network
25/02/15
1   
1259_1262delGTTG
c.1259_1262delGTTG
9
p.Cys420TrpfsX33
Causal
unvalidated
00/00/00
28   
1263G>A
c.1263G>A
9
p.Trp421X
Causal
unvalidated
00/00/00
16   
1264G>T
c.1264G>T
9
p.Glu422X
Causal
unvalidated
00/00/00
2   
1266G>T
c.1266G>T
9
p.Glu422Asp
UV
unvalidated
00/00/00
1   
1270C>T
c.1270C>T
9
p.Gln424X
Causal
unvalidated
00/00/00
8   
1270delC
c.1270delC
9
p.Gln424ArgfsX30
Causal
unvalidated
00/00/00
3   
1273delG
c.1273delG
9
p.Glu425LysfsX29
Causal
unvalidated
00/00/00
2   
1280_1281delAT
c.1280_1281delAT
9
p.His427ArgfsX16
Causal
unvalidated
00/00/00
1   
1283_1293del
c.1283_1293del
9
p.Glu428GlyfsX12
Causal
unvalidated
00/00/00
2   
1292T>G
c.1292T>G
9
p.Met431Arg
UV
unvalidated
00/00/00
1   
1313_1408del
c.1313_1408del
9-10
p.Met438_Gly470delinsArg
Causal
unvalidated
00/00/00
3   
IVS9+27G>A (312+27G>A)
c.IVS9+27G>A (c.1312+27G>A)
9-10
Neutral
unvalidated
00/00/00
3   
IVS9+2del (312+2del)
c.IVS9+2del (c.1312+2del)
9-10
Causal
unvalidated
00/00/00
1   
IVS9+3A>G (312+3A>G)
c.IVS9+3A>G (c.1312+3A>G)
9-10
Causal
unvalidated
00/00/00
26   
IVS9+5G>T (312+5G>T)
c.IVS9+5G>T (c.1312+5G>T)
9-10
Causal
unvalidated
00/00/00
2   
IVS9-61A>G (313-61A>G)
c.IVS9-61A>G (c.1313-61A>G)
9-10
Neutral
unvalidated
00/00/00
2   
1327dup
c.1327dup
10
p.Glu443GlyfsX17
Causal
unvalidated
00/00/00
10   
1341_1345dup
c.1341_1345dup
10
p.Ala449ValfsX7
Causal
unvalidated
00/00/00
1   
1346dup
c.1346dup
10
p.Val450CysfsX10
Causal
unvalidated
00/00/00
2   
1354delG
c.1354delG
10
p.Val452PhefsX2
Causal
unvalidated
00/00/00
3   
1370C>A
c.1370C>A
10
p.Ser457X
ASEF binding domain ARM1
Causal
unvalidated
00/00/00
5   
1370C>G
c.1370C>G
10
p.Ser457X
ASEF binding domain ARM1
Causal
French MMR network
25/02/15
6   
1389insT
c.1389insT
10
p.Arg463SerfsX6
ASEF binding domain ARM1
Causal
unvalidated
00/00/00
2   
1406T>C
c.1406T>C
10
p.Leu469Pro
ASEF binding domain ARM1
UV
unvalidated
00/00/00
1   
1409_1548del
c.1409_1548del
10-11
p.Gly471TyrfsX19
ASEF binding domain ARM1
Causal
unvalidated
00/00/00
13   
1409_1743del
c.1409_1743del
10-11
p.Gly471IlefsX19
ASEF binding domain ARM1
Causal
unvalidated
00/00/00
8   
1409_8532del
c.1409_8532del
10-11
p.Gly470fsX14
ASEF binding domain ARM1
Causal
unvalidated
00/00/00
1   
IVS10-1G>A (409-1G>A)
c.IVS10-1G>A (c.1409-1G>A)
10-11
ASEF binding domain ARM1
Causal
unvalidated
00/00/00
1   
IVS10-1G>C (409-1G>C)
c.IVS10-1G>C (c.1409-1G>C)
10-11
ASEF binding domain ARM1
Causal
unvalidated
00/00/00
1   
IVS10-1G>T (409-1G>T)
c.IVS10-1G>T (c.1409-1G>T)
10-11
ASEF binding domain ARM1
Causal
unvalidated
00/00/00
1   
IVS10-2del3 (409-2del3)
c.IVS10-2del3 (c.1409-2del3)
10-11
ASEF binding domain ARM1
Causal
unvalidated
00/00/00
1   
IVS10-3T>G (409-3T>G)
c.IVS10-3T>G (c.1409-3T>G)
10-11
ASEF binding domain ARM1
UV
unvalidated
00/00/00
1   
IVS10-5A>G (409-5A>G)
c.IVS10-5A>G (c.1409-5A>G)
10-11
ASEF binding domain ARM1
Causal
unvalidated
00/00/00
1   
IVS10-6A>G (409-6A>G)
c.IVS10-6A>G (c.1409-6A>G)
10-11
ASEF binding domain ARM1
Causal
unvalidated
00/00/00
6   
1411G>T
c.1411G>T
11
p.Gly471X
ASEF binding domain ARM1
Causal
unvalidated
00/00/00
4   
1435insTTTA
c.1435insTTTA
11
p.Leu479PhefsX7
ASEF binding domain ARM1
Causal
unvalidated
00/00/00
4   
1438C>T
c.1438C>T
11
p.Gln480X
ASEF binding domain ARM1
Causal
unvalidated
00/00/00
2   
1440A>C
c.1440A>C
11
p.Gln480His
ASEF binding domain ARM1
UV
unvalidated
00/00/00
1   
1464dup
c.1464dup
11
p.Thr489TyrfsX2
ASEF binding domain ARM1
Causal
unvalidated
00/00/00
3   
1477dup
c.1477dup
11
p.Tyr493LeufsX44
ASEF binding domain ARM1
Causal
unvalidated
00/00/00
7   
1479C>G
c.1479C>G
11
p.Tyr493X
ASEF binding domain ARM1
Causal
unvalidated
00/00/00
3   
1480insT
c.1480insT
11
p.Ser494X
ASEF binding domain ARM1
Causal
unvalidated
00/00/00
5   
11
ASEF binding domain ARM2
unvalidated
00/00/00
2   
1487_1499del
c.1487_1499del
11
p.Thr496MetfsX6
ASEF binding domain ARM2
Causal
unvalidated
00/00/00
3   
1488_1489delAC
c.1488_1489delAC
11
p.Leu497LysfsX39
ASEF binding domain ARM2
Causal
unvalidated
00/00/00
2   
1487_1506delinsTGCTGT
c.1487_1506delinsTGCTGT
11
p.Leu497_Leu497del
ASEF binding domain ARM2
Causal
unvalidated
00/00/00
11   
1495C>T
c.1495C>T
11
p.Arg499X
ASEF binding domain ARM2
Causal
unvalidated
00/00/00
35   
1495_1498dup
c.1495_1498dup
11
p.Tyr500SerfsX38
ASEF binding domain ARM2
Causal
unvalidated
00/00/00
2   
1509insAATC
c.1509insAATC
11
p.Met503IlefsX35
ASEF binding domain ARM2
Causal
unvalidated
00/00/00
4   
1522_1523delTT
c.1522_1523delTT
11
p.Leu508AspfsX28
ASEF binding domain ARM2
Causal
unvalidated
00/00/00
3   
1548G>A
c.1548G>A
11
p.Lys516Lys
ASEF binding domain ARM2
UV
unvalidated
00/00/00
2   
1548G>C
c.1548G>C
11
p.Lys516Asn
ASEF binding domain ARM2
Causal
unvalidated
00/00/00
11   
1548G>T
c.1548G>T
11
p.Lys516Asn
ASEF binding domain ARM2
UV
unvalidated
00/00/00
1   
c.1548_1548+1delinsTT
11
p.Thr518AlafsX2
ASEF binding domain ARM2
Causal
unvalidated
00/00/00
1   
IVS11+1G>A (548+1G>A)
c.IVS11+1G>A (c.1548+1G>A)
11
ASEF binding domain ARM2
Causal
unvalidated
00/00/00
3   
IVS11-8A>C (549-8A>C)
c.IVS11-8A>C (c.1549-8A>C)
12
ASEF binding domain ARM2
Causal
unvalidated
00/00/00
1   
IVS11-8A>G (549-8A>G)
c.IVS11-8A>G (c.1549-8A>G)
12
UV
unvalidated
00/00/00
6   
1556delT
c.1556delT
12
p.Leu519HisfsX4
ASEF binding domain ARM2
Causal
French MMR network
25/03/15
1   
1561delT
c.1561delT
12
p.Ser521LeufsX2
ASEF binding domain ARM2
Causal
unvalidated
00/00/00
1   
1561_1563delTCT
c.1561_1563delTCT
12
p.Ser521del
ASEF binding domain ARM2
UV
French MMR network
25/02/15
18   
1564_1565dup
c.1564_1565dup
12
p.Met522IlefsX2
ASEF binding domain ARM2
Causal
unvalidated
00/00/00
1   
1594C>T
c.1594C>T
12
p.Gln532X
ASEF binding domain ARM2
Causal
French MMR network
25/03/15
1   
1600A>T
c.1600A>T
12
p.Lys534X
ASEF binding domain ARM2
Causal
French MMR network
4/03/15
1   
1619dup
c.1619dup
12
p.Leu540PhefsX20
ASEF binding domain ARM2
Causal
unvalidated
00/00/00
1   
1620dup
c.1620dup
12
p.Gln541ThrfsX19
ASEF binding domain ARM2
Causal
unvalidated
00/00/00
2   
1621C>T
c.1621C>T
12
p.Gln541X
ASEF binding domain ARM2
Causal
unvalidated
00/00/00
11   
1621insAA
c.1621insAA
12
p.Gln541AsnfsX9
ASEF binding domain ARM2
Causal
unvalidated
00/00/00
5   
1623insT
c.1623insT
12
p.Gln541HisfsX19
ASEF binding domain ARM2
Causal
unvalidated
00/00/00
10   
1626G>C
c.1626G>C
12
p.Gln542His
ASEF binding domain ARM2
Likely Causal
unvalidated
00/00/00
5   
IVS12+1G>A (626+1G>A)
c.IVS12+1G>A (c.1626+1G>A)
12
ASEF binding domain ARM2
Causal
unvalidated
00/00/00
1   
1657delT
c.1657delT
13
p.Trp553GlyfsX5
ASEF binding domain ARM3
Causal
unvalidated
00/00/00
2   
1660C>T
c.1660C>T
13
p.Arg554X
ASEF binding domain ARM3
Causal
unvalidated
00/00/00
28   
1679insT
c.1679insT
13
p.Lys560IlefsX21
ASEF binding domain ARM3
Causal
French MMR network
25/02/15
1   
1690C>T
c.1690C>T
13
p.Arg564X
ASEF binding domain ARM3
Causal
unvalidated
00/00/00
40   
1695A>G
c.1695A>G
13
p.Glu565Glu
ASEF binding domain ARM3
Neutral
unvalidated
00/00/00
3   
1706dup
c.1706dup
13
p.Lys570GlufsX11
ASEF binding domain ARM3
Causal
unvalidated
00/00/00
2   
1722dup
c.1722dup
13
p.Cys575MetfsX6
ASEF binding domain ARM3
Causal
unvalidated
00/00/00
9   
1726delG
c.1726delG
13
p.Ala576LeufsX2
ASEF binding domain ARM3
Causal
unvalidated
00/00/00
1   
1730T>G
c.1730T>G
13
p.Leu577X
ASEF binding domain ARM3
Causal
unvalidated
00/00/00
11   
1732G>T
c.1732G>T
13
p.Glu578X
ASEF binding domain ARM3
Causal
French MMR network
4/03/15
2   
1735delG
c.1735delG
13
p.Val579LeufsX11
ASEF binding domain ARM3
Causal
unvalidated
00/00/00
3   
1738A>T
c.1738A>T
13
p.Lys580X
ASEF binding domain ARM3
Causal
unvalidated
00/00/00
2   
1742delA
c.1742delA
13
p.Lys581ArgfsX9
ASEF binding domain ARM3
Causal
unvalidated
00/00/00
1   
IVS13+1del (743+1del)
c.IVS13+1del (c.1743+1del)
13
ASEF binding domain ARM3
Causal
unvalidated
00/00/00
2   
IVS13+1G>C (743+1G>C)
c.IVS13+1G>C (c.1743+1G>C)
13
ASEF binding domain ARM3
Causal
unvalidated
00/00/00
1   
IVS13+1G>T (743+1G>T)
c.IVS13+1G>T (c.1743+1G>T)
13
ASEF binding domain ARM3
Causal
unvalidated
00/00/00
7   
IVS13+78A>G (743+78A>G)
c.IVS13+78A>G (c.1743+78A>G)
13
ASEF binding domain ARM3
Neutral
unvalidated
00/00/00
5   
1744ins2760 ?
c.1744ins2760 ?
14
p.582_581dup
ASEF binding domain ARM3
Causal
French MMR network
4/03/15
1   
1744_1958del
c.1744_1958del
14
p.Glu582AlafsX20
ASEF binding domain ARM3
Causal
unvalidated
00/00/00
5   
1744_8532del
c.1744_8532del
14
p.Glu582fsX10
ASEF binding domain ARM3
Causal
unvalidated
00/00/00
2   
IVS13-1G>C (744-1G>C)
c.IVS13-1G>C (c.1744-1G>C)
14
ASEF binding domain ARM3
Causal
unvalidated
00/00/00
1   
1748_1756del
c.1748_1756del
14
p.Ser583X
ASEF binding domain ARM3
Causal
unvalidated
00/00/00
1   
1756A>T
c.1756A>T
14
p.Lys586X
ASEF binding domain ARM3
Causal
unvalidated
00/00/00
3   
1758_1759delAA
c.1758_1759delAA
14
p.Ser587ArgfsX14
ASEF binding domain ARM3
Causal
unvalidated
00/00/00
1   
1775delT
c.1775delT
14
p.Leu592TyrfsX18
Causal
unvalidated
00/00/00
2   
1775T>G
c.1775T>G
14
p.Leu592X
Causal
unvalidated
00/00/00
3   
1797C>A
c.1797C>A
14
p.Cys599X
ASEF binding domain ARM4
Causal
unvalidated
00/00/00
2   
1812delT
c.1812delT
14
p.Asp605IlefsX5
ASEF binding domain ARM4
Causal
unvalidated
00/00/00
2   
1824insA
c.1824insA
14
p.Val609CysfsX25
ASEF binding domain ARM4
Causal
unvalidated
00/00/00
2   
1847delT
c.1847delT
14
p.Leu616TrpfsX14
ASEF binding domain ARM4
Causal
unvalidated
00/00/00
3   
c.1848_1848+1delinsTT
14
p.Thr518AlafsX2
ASEF binding domain ARM4
Causal
unvalidated
00/00/00
1   
1855A>G
c.1855A>G
14
p.Thr619Ala
ASEF binding domain ARM4
UV
French MMR network
25/02/15
1   
1855_1856delAC
c.1855_1856delAC
14
p.Thr619SerfsX14
ASEF binding domain ARM4
Causal
unvalidated
00/00/00
7   
1861_1864delACTT
c.1861_1864delACTT
14
p.Tyr622GlyfsX7
ASEF binding domain ARM4
Causal
unvalidated
00/00/00
1   
1866C>A
c.1866C>A
14
p.Tyr622X
ASEF binding domain ARM4
Causal
unvalidated
00/00/00
7   
1875_1878delGACA
c.1875_1878delGACA
14
p.Asn627LeufsX2
ASEF binding domain ARM4
Causal
unvalidated
00/00/00
11   
1879_1882delAACA
c.1879_1882delAACA
14
p.Asn627LeufsX2
ASEF binding domain ARM4
Causal
unvalidated
00/00/00
1   
1886dup
c.1886dup
14
p.Leu629PhefsX5
ASEF binding domain ARM4
Causal
unvalidated
00/00/00
9   
1886T>G
c.1886T>G
14
p.Leu629X
ASEF binding domain ARM4
Causal
unvalidated
00/00/00
1   
1902T>G
c.1902T>G
14
p.Ser634Arg
ASEF binding domain ARM4
Causal
unvalidated
00/00/00
1   
1907dup
c.1907dup
14
p.Gly637TrpfsX14
ASEF binding domain ARM4
Causal
unvalidated
00/00/00
5   
1934T>A
c.1934T>A
14
p.Leu645X
ASEF binding domain ARM5
Causal
unvalidated
00/00/00
1   
1938_1939delinsC
c.1938_1939delinsC
14
p.Ile646_Arg653delinsMet
ASEF binding domain ARM5
Causal
unvalidated
00/00/00
3   
1940C>G
c.1940C>G
14
p.Ala647Gly
ASEF binding domain ARM5
UV
unvalidated
00/00/00
1   
1948G>T
c.1948G>T
14
p.Glu650X
ASEF binding domain ARM5
Causal
unvalidated
00/00/00
11   
1954_1973del
c.1954_1973del
14
p.His652GlufsX15
ASEF binding domain ARM5
Causal
unvalidated
00/00/00
2   
1957A>G
c.1957A>G
14-15
p.Arg653Gly
ASEF binding domain ARM5
Causal
unvalidated
00/00/00
15   
1957A>T
c.1957A>T
14-15
p.Arg653Trp
ASEF binding domain ARM5
UV
unvalidated
00/00/00
9   
1958G>A
c.1958G>A
14-15
p.Arg653Lys
ASEF binding domain ARM5
Causal
unvalidated
00/00/00
8   
1958G>T
c.1958G>T
14-15
p.Arg653Met
ASEF binding domain ARM5
UV
French MMR network
25/02/15
3   
1959delG
c.1959delG
14-15
p.Arg653SerfsX4
ASEF binding domain ARM5
Causal
unvalidated
00/00/00
2   
1959G>A
c.1959G>A
14-15
p.Arg653Arg
ASEF binding domain ARM5
Neutral
unvalidated
00/00/00
29