Old nomenclature |
cDNA Nomenclature |
exon |
mRNA nomenclature |
Protein nomenclature |
Functional Domain |
Biological significance |
Validation by |
Validation date |
# records |
705A>G |
c.705A>G |
6 |
|
p.Leu235Leu |
|
Neutral |
unvalidated |
00/00/00 |
6  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
5765 |
37_P13.3624419147877 | |
Neutral |
- |
|
37 |
3072 |
19_10911---10911.001 | |
Neutral |
- |
|
19 |
3073 |
19_14990---14990.001 | |
Neutral |
- |
|
19 |
3074 |
19_17707---17707.001 | |
Neutral |
- |
|
19 |
3248 |
33_PSL1916---08-1289 | |
Neutral |
- |
|
33 |
3509 |
37_P10.02811764103699 | |
Neutral |
- |
|
37 |
|
1121G>A |
c.1121G>A |
9 |
|
p.Arg374Gln |
|
Neutral |
unvalidated |
00/00/00 |
2  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2756 |
19_4821---4821.002 | |
Neutral |
- |
|
19 |
2757 |
19_4821---4821.003 | |
Neutral |
- |
|
19 |
|
1695A>G |
c.1695A>G |
13 |
|
p.Glu565Glu |
ASEF binding domain ARM3 |
Neutral |
unvalidated |
00/00/00 |
3  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
3075 |
19_19208---19208.001 | |
Neutral |
- |
|
19 |
3076 |
19_19208---19208.001 | |
Neutral |
- |
|
19 |
3250 |
33_SAT203---09-1172 | |
Neutral |
- |
|
33 |
|
1959G>A |
c.1959G>A |
14-15 |
|
p.Arg653Arg |
ASEF binding domain ARM5 |
Neutral |
unvalidated |
00/00/00 |
29  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2142 |
4_8061---8061 | |
Neutral |
- |
|
4 |
2432 |
10_APC-034---300P | |
Neutral |
- |
|
10 |
2732 |
19_9040---9040.001 | |
Neutral |
- |
|
19 |
2733 |
19_9040---9040.002 | |
Neutral |
- |
|
19 |
2734 |
19_9040---9040.003 | |
Neutral |
- |
|
19 |
2735 |
19_9040---9040.004 | |
Neutral |
- |
|
19 |
2736 |
19_19207---19207.001 | |
Neutral |
- |
|
19 |
2737 |
19_11604---11604.001 | |
Neutral |
- |
|
19 |
3083 |
20_2437-27---9775 | |
Neutral |
- |
|
20 |
3259 |
37_P03.092000--- | |
Neutral |
- |
|
37 |
3260 |
37_P11.08-E14845--- | |
Neutral |
- |
|
37 |
3261 |
37_P00.061037--- | |
Neutral |
- |
|
37 |
3262 |
37_P00.06699--- | |
Neutral |
- |
|
37 |
3263 |
37_P01.061039--- | |
Neutral |
- |
|
37 |
3264 |
37_P00.061199296225/92173 | |
Neutral |
- |
|
37 |
3751 |
SO_-50121302130 | |
Neutral |
- |
|
71 |
4143 |
SO_-1702G00111G00111 | |
Neutral |
- |
|
71 |
4165 |
SO_-1728G00204G00204 | |
Neutral |
- |
|
71 |
4250 |
SO_-1289G00581G00581 | |
Neutral |
- |
|
71 |
4251 |
SO_-1846G00584G00584 | |
Neutral |
- |
|
71 |
4386 |
SO_-1275G01259G01259 | |
Neutral |
- |
|
71 |
4430 |
SO_-501G01459G01459 | |
Neutral |
- |
|
71 |
4595 |
SO_-2700G02436G02436 | |
Neutral |
- |
|
71 |
4620 |
SO_-1275G02618G02618 | |
Neutral |
- |
|
71 |
5733 |
37_P12.1219979130358 | |
Neutral |
- |
|
37 |
5143 |
SO_-501G05623G05623 | |
Neutral |
- |
|
71 |
5144 |
SO_-501G05624G05624 | |
Neutral |
- |
|
71 |
5146 |
SO_-501G05626G05626 | |
Neutral |
- |
|
71 |
5496 |
7_-5842ILP0412113E041266 | |
Neutral |
- |
|
7 |
|
3165A>T |
c.3165A>T |
15 |
|
p.Ile1055Ile |
|
Neutral |
unvalidated |
00/00/00 |
6  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
5780 |
37_P13.4024735149135 | |
Neutral |
- |
|
37 |
2146 |
4_36957---36957 | |
Neutral |
- |
|
4 |
2747 |
19_11431---11431.001 | |
Neutral |
- |
|
19 |
2748 |
19_11431---11431.001 | |
Neutral |
- |
|
19 |
2749 |
19_17769---17769.001 | |
Neutral |
- |
|
19 |
3103 |
33_PSL2697---09-1304 | |
Neutral |
- |
|
33 |
|
3386T>C |
c.3386T>C |
15 |
|
p.Leu1129Ser |
|
Neutral |
unvalidated |
00/00/00 |
6  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2356 |
4_23088---23088 | |
Neutral |
- |
|
4 |
2982 |
19_17587---17587.001 | |
Neutral |
- |
|
19 |
2983 |
19_13981---13981.001 | |
Neutral |
- |
|
19 |
2984 |
19_15859---15859.001 | |
Neutral |
- |
|
19 |
2985 |
19_19668---19668.001 | |
Neutral |
- |
|
19 |
4197 |
SO_-920G00379G00379 | |
Neutral |
- |
|
71 |
|
3468_3470delAGA |
c.3468_3470delAGA |
15 |
|
p.Glu1157del |
Beta-catenin binding domain 3 |
Neutral |
unvalidated |
00/00/00 |
2  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
5829 |
19_1611116111-00116111-001 | |
Neutral |
- |
|
19 |
5830 |
19_2715727157-00127157-001 | |
Neutral |
- |
|
19 |
|
3920T>A |
c.3920T>A |
15 |
|
p.Ile1307Lys |
|
Neutral |
unvalidated |
00/00/00 |
2  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
3099 |
33_PSL3028---10-331 | |
Neutral |
- |
|
33 |
4739 |
SO_-3195G03415G03415 | |
Neutral |
- |
|
71 |
|
3949G>C |
c.3949G>C |
15 |
|
p.Glu1317Gln |
|
Neutral |
unvalidated |
00/00/00 |
5  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
5761 |
2_02-ACT2008_14897_14897 | |
Neutral |
- |
|
2 |
2750 |
19_21943---21943-001 | |
Neutral |
- |
|
19 |
2751 |
19_19912---19112.001 | |
Neutral |
- |
|
19 |
3084 |
20_1713-04---5929 | |
Neutral |
- |
|
20 |
5251 |
SO_-4457G06580G06580 | |
Neutral |
- |
|
71 |
|
4326T>A |
c.4326T>A |
15 |
|
p.Pro1442Pro |
|
Neutral |
unvalidated |
00/00/00 |
7  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2763 |
19_19206---19206.001 | |
Neutral |
- |
|
19 |
2764 |
19_21016---21016.001 | |
Neutral |
- |
|
19 |
2765 |
19_20067---20067-001 | |
Neutral |
- |
|
19 |
2766 |
19_24158---24158-001 | |
Neutral |
- |
|
19 |
2767 |
19_11268---11268.001 | |
Neutral |
- |
|
19 |
2768 |
19_19206---19206.001 | |
Neutral |
- |
|
19 |
2769 |
19_19206---19206.002 | |
Neutral |
- |
|
19 |
|
4345A>G |
c.4345A>G |
15 |
|
p.Lys1449Glu |
|
Neutral |
unvalidated |
00/00/00 |
2  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
3394 |
37_P09.3613935103954,1040 | |
Neutral |
- |
|
37 |
3395 |
37_P09.36946086467/93358 | |
Neutral |
- |
|
37 |
|
5274T>A |
c.5274T>A |
15 |
|
p.Ser1758Ser |
|
Neutral |
unvalidated |
00/00/00 |
3  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2978 |
19_20852---20852.001 | |
Neutral |
- |
|
19 |
2979 |
19_20852---20852.001 | |
Neutral |
- |
|
19 |
2980 |
19_15859---15859.001 | |
Neutral |
- |
|
19 |
|
5465A>T |
c.5465A>T |
15 |
|
p.Asp1822Val |
|
Neutral |
unvalidated |
00/00/00 |
3  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
5831 |
19_2231922319-00122319-001 | |
Neutral |
- |
|
19 |
5832 |
19_2418824188-00124188-001 | |
Neutral |
- |
|
19 |
5833 |
19_2534825348-00125348-001 | |
Neutral |
- |
|
19 |
|
5880A>G |
c.5880A>G |
15 |
|
p.Pro1960Pro |
Beta-catenin degradation domai |
Neutral |
unvalidated |
00/00/00 |
1  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
5858 |
--- | |
Neutral |
- |
|
171 |
|
7504G>A |
c.7504G>A |
15 |
|
p.Gly2502Ser |
Microtubule binding domain (ba |
Neutral |
unvalidated |
00/00/00 |
4  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
5816 |
19_9798---9798.001 | |
Neutral |
- |
|
19 |
3271 |
37_P05.05-E3419--- | |
Neutral |
- |
|
37 |
3272 |
37_P08.076880--- | |
Neutral |
- |
|
37 |
3273 |
37_P03.08195819580 | |
Neutral |
- |
|
37 |
|
7621A>G |
c.7621A>G |
15 |
|
p.Ile2541Val |
Microtubule binding domain (ba |
Neutral |
unvalidated |
00/00/00 |
2  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
3414 |
37_P09.1813116100825 | |
Neutral |
- |
|
37 |
3415 |
37_P09.18919380210 | |
Neutral |
- |
|
37 |
|
7704A>G |
c.7704A>G |
15 |
|
p.Gly2568Gly |
Microtubule binding domain (ba |
Neutral |
French MMR network |
25/03/15 |
3  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
5817 |
19_26776---26776-001 | |
Neutral |
- |
|
19 |
5818 |
19_1611116111-00116111-001 | |
Neutral |
- |
|
19 |
3090 |
20_0910-01---2845 | |
Neutral |
- |
|
20 |
|
7862C>G |
c.7862C>G |
15 |
|
p.Ser2621Cys |
|
Neutral |
unvalidated |
00/00/00 |
10  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
5526 |
7_-5974ILP0510959E050855 | |
Neutral |
- |
|
7 |
2406 |
4_25979---25979 | |
Neutral |
- |
|
4 |
2701 |
10_APC-071---831P | |
Neutral |
- |
|
10 |
3065 |
19_23741---23741-001 | |
Neutral |
- |
|
19 |
3066 |
19_19208---19208.001 | |
Neutral |
- |
|
19 |
3246 |
33_SAT0278---08-104 | |
Neutral |
- |
|
33 |
3247 |
33_PSL2551---09-854 | |
Neutral |
- |
|
33 |
3506 |
37_P98.1324828 | |
Neutral |
- |
|
37 |
3507 |
37_P06.034075--- | |
Neutral |
- |
|
37 |
3508 |
37_P98.17213--- | |
Neutral |
- |
|
37 |
|