Old nomenclature |
cDNA Nomenclature |
exon |
mRNA nomenclature |
Protein nomenclature |
Functional Domain |
Biological significance |
Validation by |
Validation date |
# records |
450A>G |
c.450A>G |
4 |
|
p.Lys150Lys |
|
Likely Neutral |
unvalidated |
00/00/00 |
2  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2429 |
10_--------- | |
Likely Neutral |
- |
|
10 |
5107 |
SO_-3868G05398G05398 | |
Likely Neutral |
- |
|
71 |
|
457A>C |
c.457A>C |
4 |
|
p.Lys153Gln |
|
Likely Neutral |
unvalidated |
00/00/00 |
1  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
3108 |
33_PSL2181---08--1948 | |
Likely Neutral |
- |
|
33 |
|
638G>A |
c.638G>A |
5 |
|
p.Arg213Gln |
|
Likely Neutral |
unvalidated |
00/00/00 |
1  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2753 |
19_21781---21781-001 | |
Likely Neutral |
- |
|
19 |
|
2099A>C |
c.2099A>C |
15 |
|
p.Asp700Ala |
ASEF binding domain ARM6 |
Likely Neutral |
unvalidated |
00/00/00 |
2  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2875 |
19_12394---12394.010 | |
Likely Neutral |
- |
|
19 |
2876 |
19_12394---12394.003 | |
Likely Neutral |
- |
|
19 |
|
3102G>A |
c.3102G>A |
15 |
|
p.Glu1034Glu |
Beta-catenin binding domain 1 |
Likely Neutral |
unvalidated |
00/00/00 |
1  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
3171 |
33_PSL2250---09-0080 | |
Likely Neutral |
- |
|
33 |
|
3173A>G |
c.3173A>G |
15 |
|
p.Asp1058Gly |
|
Likely Neutral |
unvalidated |
00/00/00 |
6  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
5803 |
33_PSL1080---07-512 | |
Likely Neutral |
- |
|
33 |
5822 |
33_PSL 1080---07-512 | |
Likely Neutral |
- |
|
33 |
2877 |
19_14572---14572.001 | |
Likely Neutral |
- |
|
19 |
3410 |
37_P11.01217273118435 | |
Likely Neutral |
- |
|
37 |
3411 |
37_P11.01217272118434 | |
Likely Neutral |
- |
|
37 |
3412 |
37_P11.01215367110428 | |
Likely Neutral |
- |
|
37 |
|
3249T>G |
c.3249T>G |
15 |
|
p.Asp1083Glu |
|
Likely Neutral |
unvalidated |
00/00/00 |
1  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2553 |
10_--------- | |
Likely Neutral |
- |
|
10 |
|
3425A>C |
c.3425A>C |
15 |
|
p.Asn1142Thr |
Beta-catenin binding domain 2 |
Likely Neutral |
unvalidated |
00/00/00 |
1  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2430 |
10_APC-081---923P | |
Likely Neutral |
- |
|
10 |
|
3471G>A |
c.3471G>A |
15 |
|
p.Glu1157Glu |
Beta-catenin binding domain 3 |
Likely Neutral |
unvalidated |
00/00/00 |
5  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2863 |
19_7580---7580.001 | |
Likely Neutral |
- |
|
19 |
2864 |
19_7580---7580.001 | |
Likely Neutral |
- |
|
19 |
3172 |
33_SAT539---10-273, | |
Likely Neutral |
- |
|
33 |
3173 |
33_PSL1067---07-478, | |
Likely Neutral |
- |
|
33 |
3174 |
33_SAT581---10-1019 | |
Likely Neutral |
- |
|
33 |
|
3511C>T |
c.3511C>T |
15 |
|
p.Arg1171Cys |
|
Likely Neutral |
unvalidated |
00/00/00 |
1  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2699 |
10_APC-088---1003P | |
Likely Neutral |
- |
|
10 |
|
3691C>G |
c.3691C>G |
15 |
|
p.Leu1231Val |
|
Likely Neutral |
unvalidated |
00/00/00 |
1  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2878 |
19_21781---21781-001 | |
Likely Neutral |
- |
|
19 |
|
3732A>G |
c.3732A>G |
15 |
|
p.Gln1244Gln |
|
Likely Neutral |
unvalidated |
00/00/00 |
3  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
5309 |
SO_-4761G07149G07149 | |
Likely Neutral |
- |
|
71 |
2760 |
19_19208---19208.001 | |
Likely Neutral |
- |
|
19 |
3107 |
33_SAT203---09-1172 | |
Likely Neutral |
- |
|
33 |
|
3739G>A |
c.3739G>A |
15 |
|
p.Ala1247Thr |
|
Likely Neutral |
unvalidated |
00/00/00 |
1  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2731 |
19_18980---18980-001 | |
Likely Neutral |
- |
|
19 |
|
4057G>C |
c.4057G>C |
15 |
|
p.Glu1353Gln |
|
Likely Neutral |
unvalidated |
00/00/00 |
2  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2752 |
19_717---717.001 | |
Likely Neutral |
- |
|
19 |
5026 |
SO_-358G04923G04923 | |
Likely Neutral |
- |
|
71 |
|
4919G>A |
c.4919G>A |
15 |
|
p.Arg1640Gln |
|
Likely Neutral |
unvalidated |
00/00/00 |
3  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
5801 |
19_24250---24250.001 | |
Likely Neutral |
- |
|
19 |
2761 |
19_21206---21206-001 | |
Likely Neutral |
- |
|
19 |
2762 |
19_21206---21206-002 | |
Likely Neutral |
- |
|
19 |
|
5208A>G |
c.5208A>G |
15 |
|
p.Lys1736Lys |
Axin binding domain 2 |
Likely Neutral |
unvalidated |
00/00/00 |
1  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
3100 |
33_SAT509---09-1693 | |
Likely Neutral |
- |
|
33 |
|
7201C>T |
c.7201C>T |
15 |
|
p.Leu2401Leu |
Microtubule binding domain (ba |
Likely Neutral |
unvalidated |
00/00/00 |
4  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
3068 |
19_21384---21384-001 | |
Likely Neutral |
- |
|
19 |
3069 |
19_21484---21484-001 | |
Likely Neutral |
- |
|
19 |
3070 |
19_21529---21529-001 | |
Likely Neutral |
- |
|
19 |
3071 |
19_21781---21781-001 | |
Likely Neutral |
- |
|
19 |
|
8068G>A |
c.8068G>A |
15 |
|
p.Ala2690Thr |
EB1 & hDLG binding domain (C-t |
Likely Neutral |
unvalidated |
00/00/00 |
2  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
3249 |
33_SAT379---08-168 | |
Likely Neutral |
- |
|
33 |
3510 |
37_P08.01-E6738--- | |
Likely Neutral |
- |
|
37 |
|