The UMD-APC mutations database
Nonsense mutations (1123 records)

    Request ID: 636537090

Old nomenclature cDNA Nomenclature exon mRNA nomenclature Protein nomenclature Functional Domain Biological significance Validation by Validation date # records
148C>T
c.148C>T
2
p.Gln50X
Dimerization domain
Causal
unvalidated
00/00/00
2   
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   
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   
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   
399T>G
c.399T>G
3
p.Tyr133X
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   
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   
562C>T
c.562C>T
5
p.Gln188X
Causal
unvalidated
00/00/00
4   
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   
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   
646C>T
c.646C>T
6
p.Arg216X
Causal
unvalidated
00/00/00
40   
667C>T
c.667C>T
6
p.Gln223X
Causal
unvalidated
00/00/00
3   
694C>T
c.694C>T
6
p.Arg232X
Causal
unvalidated
00/00/00
46   
704T>A
c.704T>A
6
p.Leu235X
Causal
unvalidated
00/00/00
2   
712C>T
c.712C>T
6
p.Gln238X
Causal
unvalidated
00/00/00
3   
778C>T
c.778C>T
7
p.Gln260X
Causal
unvalidated
00/00/00
26   
832C>T
c.832C>T
7
p.Gln278X
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   
904C>T
c.904C>T
8
p.Arg302X
Causal
unvalidated
00/00/00
7   
994C>T
c.994C>T
9
p.Arg332X
Causal
unvalidated
00/00/00
82   
1072C>T
c.1072C>T
9
p.Gln358X
Causal
unvalidated
00/00/00
1   
1192A>T
c.1192A>T
9
p.Lys398X
Causal
unvalidated
00/00/00
5   
1213C>T
c.1213C>T
9
p.Arg405X
Causal
unvalidated
00/00/00
22   
1234C>T
c.1234C>T
9
p.Gln412X
Causal
unvalidated
00/00/00
1   
1248C>G
c.1248C>G
9
p.Tyr416X
Causal
French MMR network
25/02/15
1   
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   
1270C>T
c.1270C>T
9
p.Gln424X
Causal
unvalidated
00/00/00
8   
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   
1411G>T
c.1411G>T
11
p.Gly471X
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   
1479C>G
c.1479C>G
11
p.Tyr493X
ASEF binding domain ARM1
Causal
unvalidated
00/00/00
3   
1495C>T
c.1495C>T
11
p.Arg499X
ASEF binding domain ARM2
Causal
unvalidated
00/00/00
35   
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   
1621C>T
c.1621C>T
12
p.Gln541X
ASEF binding domain ARM2
Causal
unvalidated
00/00/00
11   
1660C>T
c.1660C>T
13
p.Arg554X
ASEF binding domain ARM3
Causal
unvalidated
00/00/00
28   
1690C>T
c.1690C>T
13
p.Arg564X
ASEF binding domain ARM3
Causal
unvalidated
00/00/00
40   
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   
1738A>T
c.1738A>T
13
p.Lys580X
ASEF binding domain ARM3
Causal
unvalidated
00/00/00
2   
1756A>T
c.1756A>T
14
p.Lys586X
ASEF binding domain ARM3
Causal
unvalidated
00/00/00
3   
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   
1866C>A
c.1866C>A
14
p.Tyr622X
ASEF binding domain ARM4
Causal
unvalidated
00/00/00
7   
1886T>G
c.1886T>G
14
p.Leu629X
ASEF binding domain ARM4
Causal
unvalidated
00/00/00
1   
1934T>A
c.1934T>A
14
p.Leu645X
ASEF binding domain ARM5
Causal
unvalidated
00/00/00
1   
1948G>T
c.1948G>T
14
p.Glu650X
ASEF binding domain ARM5
Causal
unvalidated
00/00/00
11   
1999C>T
c.1999C>T
15
p.Gln667X
ASEF binding domain ARM5
Causal
unvalidated
00/00/00
4   
2044G>T
c.2044G>T
15
p.Gly682X
Causal
unvalidated
00/00/00
4   
2054G>A
c.2054G>A
15
p.Trp685X
ASEF binding domain ARM6
Causal
unvalidated
00/00/00
1   
2055G>A
c.2055G>A
15
p.Trp685X
ASEF binding domain ARM6
Causal
unvalidated
00/00/00
2   
2096G>A
c.2096G>A
15
p.Trp699X
ASEF binding domain ARM6
Causal
unvalidated
00/00/00
8   
2138C>G
c.2138C>G
15
p.Ser713X
ASEF binding domain ARM6
Causal
unvalidated
00/00/00
1   
2240C>G
c.2240C>G
15
p.Ser747X
ASEF binding domain ARM7
Causal
unvalidated
00/00/00
4   
2246T>A
c.2246T>A
15
p.Leu749X
ASEF binding domain ARM7
Causal
unvalidated
00/00/00
1   
2287G>T
c.2287G>T
15
p.Glu763X
ASEF binding domain ARM7
Causal
unvalidated
00/00/00
3   
2309C>G
c.2309C>G
15
p.Ser770X
Causal
unvalidated
00/00/00
1   
2344A>T
c.2344A>T
15
p.Lys782X
Causal
unvalidated
00/00/00
1   
2365C>T
c.2365C>T
15
p.Gln789X
Causal
unvalidated
00/00/00
4   
2377C>T
c.2377C>T
15
p.Gln793X
Causal
unvalidated
00/00/00
2   
2413C>T
c.2413C>T
15
p.Arg805X
Causal
unvalidated
00/00/00
43   
2510C>G
c.2510C>G
15
p.Ser837X
Causal
unvalidated
00/00/00
1   
2522T>G
c.2522T>G
15
p.Leu841X
Causal
unvalidated
00/00/00
2   
2563G>T
c.2563G>T
15
p.Glu855X
Causal
unvalidated
00/00/00
1   
2626C>T
c.2626C>T
15
p.Arg876X
Causal
unvalidated
00/00/00
35   
2677G>T
c.2677G>T
15
p.Glu893X
Causal
unvalidated
00/00/00
5   
2701C>T
c.2701C>T
15
p.Gln901X
Causal
unvalidated
00/00/00
2   
2752G>T
c.2752G>T
15
p.Glu918X
Causal
unvalidated
00/00/00
1   
2767A>T
c.2767A>T
15
p.Arg923X
Causal
unvalidated
00/00/00
1   
2795C>A
c.2795C>A
15
p.Ser932X
Causal
unvalidated
00/00/00
1   
2795C>G
c.2795C>G
15
p.Ser932X
Causal
unvalidated
00/00/00
2   
2805C>A
c.2805C>A
15
p.Tyr935X
Causal
unvalidated
00/00/00
35   
2805C>G
c.2805C>G
15
p.Tyr935X
Causal
unvalidated
00/00/00
11   
2828C>G
c.2828C>G
15
p.Ser943X
Causal
unvalidated
00/00/00
7   
2853T>G
c.2853T>G
15
p.Tyr951X
Causal
unvalidated
00/00/00
1   
2868C>G
c.2868C>G
15
p.Tyr956X
Causal
unvalidated
00/00/00
16   
2891T>G
c.2891T>G
15
p.Leu964X
Causal
unvalidated
00/00/00
2   
2932C>T
c.2932C>T
15
p.Gln978X
Causal
unvalidated
00/00/00
3   
2950G>T
c.2950G>T
15
p.Glu984X
Causal
unvalidated
00/00/00
2   
2958T>A
c.2958T>A
15
p.Tyr986X
Causal
unvalidated
00/00/00
6   
2985C>A
c.2985C>A
15
p.Cys995X
Causal
unvalidated
00/00/00
3   
2991T>G
c.2991T>G
15
p.Tyr997X
Causal
unvalidated
00/00/00
3   
2995C>T
c.2995C>T
15
p.Gln999X
Causal
unvalidated
00/00/00
5   
3000C>A
c.3000C>A
15
p.Tyr1000X
Causal
unvalidated
00/00/00
1   
3081T>A
c.3081T>A
15
p.Tyr1027X
Beta-catenin binding domain 1
Causal
unvalidated
00/00/00
2   
3103C>T
c.3103C>T
15
p.Gln1035X
Causal
unvalidated
00/00/00
4   
3133C>T
c.3133C>T
15
p.Gln1045X
Causal
unvalidated
00/00/00
3   
3139G>T
c.3139G>T
15
p.Glu1047X
Causal
unvalidated
00/00/00
2   
3146G>A
c.3146G>A
15
p.Trp1049X
Causal
unvalidated
00/00/00
2   
3147G>A
c.3147G>A
15
p.Trp1049X
Causal
unvalidated
00/00/00
1   
3181A>T
c.3181A>T
15
p.Lys1061X
Causal
unvalidated
00/00/00
3   
3184C>T
c.3184C>T
15
p.Gln1062X
Causal
unvalidated
00/00/00
31   
3199C>T
c.3199C>T
15
p.Gln1067X
Causal
unvalidated
00/00/00
1   
3203C>G
c.3203C>G
15
p.Ser1068X
Causal
unvalidated
00/00/00
11   
3225T>A
c.3225T>A
15
p.Tyr1075X
Causal
unvalidated
00/00/00
2   
3234T>A
c.3234T>A
15
p.Tyr1078X
Causal
unvalidated
00/00/00
11   
3283C>T
c.3283C>T
15
p.Gln1095X
Causal
unvalidated
00/00/00
7   
3286C>T
c.3286C>T
15
p.Gln1096X
Causal
unvalidated
00/00/00
4   
3306C>A
c.3306C>A
15
p.Tyr1102X
Causal
unvalidated
00/00/00
3   
3329C>G
c.3329C>G
15
p.Ser1110X
Causal
unvalidated
00/00/00
3   
3340C>T
c.3340C>T
15
p.Arg1114X
Causal
unvalidated
00/00/00
9   
3441C>A
c.3441C>A
15
p.Tyr1147X
Beta-catenin binding domain 2
Causal
unvalidated
00/00/00
1   
3441C>G
c.3441C>G
15
p.Tyr1147X
Beta-catenin binding domain 2
Causal
unvalidated
00/00/00
1   
3454C>T
c.3454C>T
15
p.Gln1152X
Causal
unvalidated
00/00/00
1   
3460G>T
c.3460G>T
15
p.Glu1154X
Causal
unvalidated
00/00/00
2   
3523C>T
c.3523C>T
15
p.Gln1175X
Beta-catenin binding domain 4
Causal
unvalidated
00/00/00
4   
3566C>G
c.3566C>G
15
p.Ser1189X
Causal
unvalidated
00/00/00
2   
3577C>T
c.3577C>T
15
p.Gln1193X
Causal
unvalidated
00/00/00
3   
3593C>G
c.3593C>G
15
p.Ser1198X
Causal
unvalidated
00/00/00
1   
3602C>A
c.3602C>A
15
p.Ser1201X
Causal
unvalidated
00/00/00
3   
3610C>T
c.3610C>T
15
p.Gln1204X
Causal
unvalidated
00/00/00
1   
3682C>T
c.3682C>T
15
p.Gln1228X
Causal
unvalidated
00/00/00
1   
3688C>T
c.3688C>T
15
p.Gln1230X
Causal
unvalidated
00/00/00
4   
3724C>T
c.3724C>T
15
p.Gln1242X
Causal
unvalidated
00/00/00
4   
3730C>T
c.3730C>T
15
p.Gln1244X
Causal
unvalidated
00/00/00
1   
3747C>A
c.3747C>A
15
p.Cys1249X
Causal
unvalidated
00/00/00
2   
3748A>T
c.3748A>T
15
p.Lys1250X
Causal
unvalidated
00/00/00
1   
3815C>G
c.3815C>G
15
p.Ser1272X
Beta-catenin degradation domai
Causal
unvalidated
00/00/00
18   
3827C>G
c.3827C>G
15
p.Ser1276X
Beta-catenin degradation domai
Causal
unvalidated
00/00/00
1   
3842C>A
c.3842C>A
15
p.Ser1281X
Beta-catenin degradation domai
Causal
unvalidated
00/00/00
1   
3845C>G
c.3845C>G
15
p.Ser1282X
Beta-catenin degradation domai
Causal
unvalidated
00/00/00
3   
3856G>T
c.3856G>T
15
p.Glu1286X
Causal
French MMR network
9/03/15
2   
3880C>T
c.3880C>T
15
p.Gln1294X
Causal
unvalidated
00/00/00
1   
3907C>T
c.3907C>T
15
p.Gln1303X
Causal
unvalidated
00/00/00
4   
3925G>T
c.3925G>T
15
p.Glu1309X
Causal
unvalidated
00/00/00
2   
3944C>A
c.3944C>A
15
p.Ser1315X
Causal
unvalidated
00/00/00
1   
3949G>T
c.3949G>T
15
p.Glu1317X
Causal
unvalidated
00/00/00
2   
3982C>T
c.3982C>T
15
p.Gln1328X
Causal
unvalidated
00/00/00
6   
4006A>T
c.4006A>T
15
p.Arg1336X
Causal
unvalidated
00/00/00
3   
4012C>T
c.4012C>T
15
p.Gln1338X
Causal
unvalidated
00/00/00
1   
4099C>T
c.4099C>T
15
p.Gln1367X
Causal
unvalidated
00/00/00
9   
4108A>T
c.4108A>T
15
p.Lys1370X
Causal
unvalidated
00/00/00
9   
4132C>T
c.4132C>T
15
p.Gln1378X
Beta-catenin degradation domai
Causal
unvalidated
00/00/00
6   
4175C>G
c.4175C>G
15
p.Ser1392X
Beta-catenin degradation domai
Causal
unvalidated
00/00/00
1   
4189G>T
c.4189G>T
15
p.Glu1397X
Beta-catenin degradation domai
Causal
unvalidated
00/00/00
1   
4199C>A
c.4199C>A
15
p.Ser1400X
Causal
unvalidated
00/00/00
1   
4216C>T
c.4216C>T
15
p.Gln1406X
Causal
unvalidated
00/00/00
1   
4222G>T
c.4222G>T
15
p.Glu1408X
Causal
unvalidated
00/00/00
4   
4348C>T
c.4348C>T
15
p.Arg1450X
Causal
unvalidated
00/00/00
9   
4429C>T
c.4429C>T
15
p.Gln1477X
Causal
unvalidated
00/00/00
2   
4463T>G
c.4463T>G
15
p.Leu1488X
Causal
unvalidated
00/00/00
3   
4549C>T
c.4549C>T
15
p.Gln1517X
Causal
unvalidated
00/00/00
10   
4606G>T
c.4606G>T
15
p.Glu1536X
Causal
unvalidated
00/00/00
1   
4616C>G
c.4616C>G
15
p.Ser1539X
Causal
unvalidated
00/00/00
2   
4618G>T
c.4618G>T
15
p.Glu1540X
Causal
unvalidated
00/00/00
3   
4621C>T
c.4621C>T
15
p.Gln1541X
Causal
unvalidated
00/00/00
3   
4700C>G
c.4700C>G
15
p.Ser1567X
Causal
unvalidated
00/00/00
12   
4729G>T
c.4729G>T
15
p.Glu1577X
Axin binding domain 1
Causal
unvalidated
00/00/00
1   
4831C>T
c.4831C>T
15
p.Gln1611X
Causal
unvalidated
00/00/00
1   
6118C>T
c.6118C>T
15
p.Gln2040X
Axin binding domain 3
Causal
unvalidated
00/00/00
5   
6709C>T
c.6709C>T
15
p.Arg2237X
Microtubule binding domain (ba
Causal
unvalidated
00/00/00
2   
6862C>T
c.6862C>T
15
p.Gln2288X
Microtubule binding domain (ba
Causal
unvalidated
00/00/00
1