The UMD-APC mutations database
Small insertions (304 records)

    Request ID: 636957710

Old nomenclature cDNA Nomenclature exon mRNA nomenclature Protein nomenclature Functional Domain Biological significance Validation by Validation date # records
228_237dup
c.228_237dup
3
p.Ser80LeufsX3
Causal
unvalidated
00/00/00
6   
298dup
c.298dup
3
p.Glu100GlyfsX39
Causal
unvalidated
00/00/00
1   
344dup
c.344dup
3
p.Met115IlefsX24
Causal
unvalidated
00/00/00
1   
435_441dup
c.435_441dup
4
p.Leu148CysfsX2
Causal
unvalidated
00/00/00
4   
476dup
c.476dup
4
p.Tyr159X
Causal
unvalidated
00/00/00
1   
479insTAAG
c.479insTAAG
4
p.Ala160ValfsX9
Causal
unvalidated
00/00/00
2   
511dup
c.511dup
4
p.Ser171LysfsX6
Causal
unvalidated
00/00/00
4   
544dup
c.544dup
5
p.Thr182AsnfsX11
Causal
unvalidated
00/00/00
1   
679insC
c.679insC
6
p.Asp227ArgfsX25
Causal
unvalidated
00/00/00
1   
704dup
c.704dup
6
p.Leu235PhefsX17
Causal
unvalidated
00/00/00
1   
797dup
c.797dup
7
p.Glu268ArgfsX9
Causal
unvalidated
00/00/00
2   
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   
912_915dup
c.912_915dup
8
p.Ser306AspfsX22
Causal
unvalidated
00/00/00
1   
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   
1238dup
c.1238dup
9
p.Arg414ThrfsX5
Causal
unvalidated
00/00/00
3   
1239dup
c.1239dup
9
p.Arg414ThrfsX5
Causal
unvalidated
00/00/00
2   
1247dup
c.1247dup
9
p.Tyr416X
Causal
unvalidated
00/00/00
4   
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   
1389insT
c.1389insT
10
p.Arg463SerfsX6
ASEF binding domain ARM1
Causal
unvalidated
00/00/00
2   
1435insTTTA
c.1435insTTTA
11
p.Leu479PhefsX7
ASEF binding domain ARM1
Causal
unvalidated
00/00/00
4   
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   
1480insT
c.1480insT
11
p.Ser494X
ASEF binding domain ARM1
Causal
unvalidated
00/00/00
5   
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   
1564_1565dup
c.1564_1565dup
12
p.Met522IlefsX2
ASEF binding domain ARM2
Causal
unvalidated
00/00/00
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   
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   
1679insT
c.1679insT
13
p.Lys560IlefsX21
ASEF binding domain ARM3
Causal
French MMR network
25/02/15
1   
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   
1824insA
c.1824insA
14
p.Val609CysfsX25
ASEF binding domain ARM4
Causal
unvalidated
00/00/00
2   
1886dup
c.1886dup
14
p.Leu629PhefsX5
ASEF binding domain ARM4
Causal
unvalidated
00/00/00
9   
1907dup
c.1907dup
14
p.Gly637TrpfsX14
ASEF binding domain ARM4
Causal
unvalidated
00/00/00
5   
1977insGA
c.1977insGA
15
p.Asn659LysfsX12
ASEF binding domain ARM5
Causal
unvalidated
00/00/00
6   
1979dup
c.1979dup
15
p.Asn660LysfsX14
ASEF binding domain ARM5
Causal
unvalidated
00/00/00
2   
2048_2057dup
c.2048_2057dup
15
p.Leu687PhefsX10
ASEF binding domain ARM6
Causal
unvalidated
00/00/00
4   
2314dup
c.2314dup
15
p.Thr772AsnfsX3
Causal
unvalidated
00/00/00
2   
2319dup
c.2319dup
15
p.Asp774X
Causal
unvalidated
00/00/00
2   
2336dup
c.2336dup
15
p.Leu779PhefsX9
Causal
unvalidated
00/00/00
14   
2444dup
c.2444dup
15
p.Asn815LysfsX29
Causal
unvalidated
00/00/00
2   
2587_2588dup
c.2587_2588dup
15
p.His864ThrfsX53
Causal
unvalidated
00/00/00
4   
2756_2757dup
c.2756_2757dup
15
p.Asn920GlufsX36
Causal
unvalidated
00/00/00
2   
2804dup
c.2804dup
15
p.Tyr935X
Causal
unvalidated
00/00/00
6   
2804_2805dup
c.2804_2805dup
15
p.Asn936ThrfsX20
Causal
unvalidated
00/00/00
2   
2859insAGGGA
c.2859insAGGGA
15
p.Leu954GlyfsX3
Causal
unvalidated
00/00/00
3   
2915insTAAC
c.2915insTAAC
15
p.Gly972ValfsX5
Causal
unvalidated
00/00/00
1   
2976dup
c.2976dup
15
p.Lys993X
Causal
unvalidated
00/00/00
2   
3056dup
c.3056dup
15
p.Glu1020ArgfsX9
Causal
unvalidated
00/00/00
2   
3058dup
c.3058dup
15
p.Glu1020GlyfsX9
Beta-catenin binding domain 1
Causal
unvalidated
00/00/00
1   
3067dup
c.3067dup
15
p.Thr1023AsnfsX6
Beta-catenin binding domain 1
Causal
unvalidated
00/00/00
5   
3186insG
c.3186insG
15
p.Ser1063LysfsX2
Causal
unvalidated
00/00/00
3   
3201dup
c.3201dup
15
p.Ser1068IlefsX13
Causal
unvalidated
00/00/00
1   
3252_3255dup
c.3252_3255dup
15
p.His1086X
Causal
unvalidated
00/00/00
1   
3268dup
c.3268dup
15
p.Gln1090ProfsX29
Causal
unvalidated
00/00/00
3   
3317dup
c.3317dup
15
p.Ala1107SerfsX12
Causal
unvalidated
00/00/00
16   
3444dup
c.3444dup
15
p.Glu1149X
Beta-catenin binding domain 2
Causal
unvalidated
00/00/00
4   
3578dup
c.3578dup
15
p.Ser1194ValfsX14
Causal
unvalidated
00/00/00
24   
3582_3585dup
c.3582_3585dup
15
p.Ser1196IlefsX13
Causal
unvalidated
00/00/00
1   
3596dup
c.3596dup
15
p.Ser1200GlufsX8
Causal
unvalidated
00/00/00
1   
3631dup
c.3631dup
15
p.Met1211AsnfsX6
Causal
unvalidated
00/00/00
3   
3638dup
c.3638dup
15
p.Ser1214LysfsX3
Causal
unvalidated
00/00/00
1   
3634_3640dup
c.3634_3640dup
15
p.Ser1214IlefsX5
Causal
unvalidated
00/00/00
4   
3679_3680dup
c.3679_3680dup
15
p.Gln1228GlyfsX38
Causal
unvalidated
00/00/00
1   
3715_3719dup
c.3715_3719dup
15
p.Ser1240ArgfsX27
Causal
unvalidated
00/00/00
1   
3747dup
c.3747dup
15
p.Lys1250GlnfsX6
Causal
unvalidated
00/00/00
2   
3799dup
c.3799dup
15
p.Thr1267AsnfsX9
Beta-catenin degradation domai
Causal
unvalidated
00/00/00
6   
3984dup
c.3984dup
15
p.His1329AlafsX3
Causal
unvalidated
00/00/00
1   
4025insAAA
c.4025insAAA
15
p.Leu1342X
Causal
unvalidated
00/00/00
4   
4049insG
c.4049insG
15
p.Lys1350ArgfsX4
Causal
unvalidated
00/00/00
2   
4059dup
c.4059dup
15
p.Phe1354IlefsX21
Causal
unvalidated
00/00/00
1   
4084_4085dup
c.4084_4085dup
15
p.Lys1363ProfsX53
Causal
unvalidated
00/00/00
2   
4333dup
c.4333dup
15
p.Thr1445AsnfsX10
Causal
unvalidated
00/00/00
2   
4397_4398dup
c.4397_4398dup
15
p.Pro1467AspfsX7
Causal
unvalidated
00/00/00
4   
4557insAA
c.4557insAA
15
p.Asp1519GlufsX5
Causal
unvalidated
00/00/00
1   
4592dup
c.4592dup
15
p.Asn1531LysfsX2
Causal
unvalidated
00/00/00
1   
4596dup
c.4596dup
15
p.Asn1533GlnfsX4
Causal
unvalidated
00/00/00
1   
4659dup
c.4659dup
15
p.Glu1554ArgfsX5
Causal
unvalidated
00/00/00
2   
4660dup
c.4660dup
15
p.Glu1554GlyfsX5
Causal
unvalidated
00/00/00
3   
4666dup
c.4666dup
15
p.Thr1556AsnfsX3
Causal
unvalidated
00/00/00
6   
4668dup
c.4668dup
15
p.Ile1557TyrfsX2
Causal
unvalidated
00/00/00
2   
4691dup
c.4691dup
15
p.Leu1564PhefsX3
Causal
unvalidated
00/00/00
1   
4756_4757dup
c.4756_4757dup
15
p.Ser1588HisfsX63
Axin binding domain 1
Causal
unvalidated
00/00/00
1   
5237dup
c.5237dup
15
p.Met1747AsnfsX22
Causal
unvalidated
00/00/00
2   
5536dup
c.5536dup
15
p.Tyr1846LeufsX5
Causal
unvalidated
00/00/00
1   
5814dup
c.5814dup
15
p.Asp1939ArgfsX10
Causal
unvalidated
00/00/00
4   
5930ins149 ?
c.5930ins149 ?
15
p.1978_1976dup
Causal
French MMR network
4/03/15
1   
6363_6365dup
c.6363_6365dup
15
p.Ala2122dup
UV
unvalidated
00/00/00
1