Table 1 CDH1 germline mutations detected to date
Reference | CDH1 mutation | Exon/Intron | Mutation Type | Ancestry |
|---|---|---|---|---|
[19] | 5'UTR(-117)G > A | Promotor | 5'UTR substitution | USA (1) |
[19] | 5'UTR(-71)C > G | Promotor | 5'UTR substitution | USA (1) |
[4] | -63 C > A | Promotor | 5'UTR substitution | Italy (1) |
[20] | Del 5'UTR-ex 1 | Promotor | Deletion | Spain (1) |
[20] | del ex 1-2 | Exon 1-2 | Deletion | Ireland (1), Canada (1) Lithuania (1) |
[5] | 2 T > C | Exon 1 | Missense | Unknow (1) |
[21] | 3 G > C | Exon 1 | Nonsense | Canada (1) |
[19] | 41delT | Exon 1 | Deletion | USA (1) |
[22] | 45insT | Exon 1 | Insertion | UK (1) |
[5] | 46insTGC | Exon 1 | Insertion | Unknow (1) |
[19] | 48 + 5 G > C | Intron 1 | Splice Site | USA (1) |
[19] | 48 + 15 C > G | Intron 1 | Splice Site | USA (1) |
49-2A > G | Intron 1 | Splice Site | Europe (1), UK (1), Ireland (1) | |
[25] | 53delC | Exon 2 | Deletion | Europe (1) |
[23] | 59 G > A | Exon 2 | Non sense | UK (1) |
[26] | 70 G > T | Exon 2 | Non sense | USA (1) |
[27] | 185 G > T | Exon 3 | Missense | Japan (1) |
[28] | 187 C > T | Exon 3 | Non sense | USA (1) |
[1] | 190 C > T | Exon 3 | Non sense | New Zealand (1) |
[29] | 283 C > T | Exon 3 | Non sense | France (1) |
[18] | 353 C > G | Exon 3 | Missense | Europe (1) |
[30] | 372delC | Exon 3 | Deletion | Germany (1) |
[31] | 377delC | Exon 3 | Deletion | Unknow (1) |
[32] | 382delC | Exon 3 | Deletion | Europe (1) |
[19] | 388 + 26 C > T | Intron 3 | Splice Site | USA (1) |
[31] | 515 C > G | Exon 4 | Missense | Unknown (1) |
[33] | 525 C > G | Exon 4 | Missense | Finland (1) |
[6] | 532-18 C > T | Intron 4 | Splice site | UK (1), Portugal (1) |
[26] | 586 G > T | Exon 5 | Non sense | Europe (1) |
[32] | 531 + 1 G > A | Intron 5 | Splice site | Europe (1) |
[34] | 531 + 2 T > A | Intron 5 | Splice site | France (1) |
[35] | 641 T > C | Exon 5 | Missense | Europe (1) |
[4] | 670 C > T | Exon 5 | Missense | Italy (1) |
[18] | 715 G > A | Exon 6 | Missense | Europe (1) |
[36] | 731A > G | Exon 6 | Missense | Korea (1) |
[5] | 753insG | Exon 6 | Insertion | Unknown (1) |
[31] | 808 T > G | Exon 6 | Missense | Unknown (1) |
[22] | 832 G > A | Exon 6 | Splice site | Pakistan (1) |
[37] | 833-2A > G | Inton 6 | Splice site | USA (1) |
[32] | 892 G > A | Exon 7 | Missense | Europe (1) |
1003 C > T | Exon 7 | Non sense | Sweden (1), Canada (2) | |
[1] | 1008 G > T | Exon 7 | Splice site | New Zealand (1) |
1018A > G | Exon 8 | Missense | Europe (1), China (1) | |
[5] | 1023 T > G | Exon 8 | Nonsense | Unknown (1) |
[21] | 1063delT | Exon 8 | Deletion | Canada (1) |
[32] | 1064insT | Exon 8 | Insertion | UK (1) |
[18] | 1107delC | Exon 8 | Deletion | Spain (1) |
[40] | 1118 C > T | Exon 8 | Missense | Italy (1) |
1134del8ins5 | Exon 8 | Deletion/Insertion | Netherlands (1) | |
1137 G > A | Exon 8 | Splice site | Europe (2) | |
[26] | 1137 + 1 G > A | Intron 8 | Splice site | USA (1) |
1212delC | Exon 9 | Deletion | Europe (1), USA (1) | |
[32] | 1226 T > C | Exon 9 | Missense | Europe (1) |
[43] | 1243A > C | Exon 9 | Missense | Japan (1) |
[21] | 1285 C > T | Exon 9 | Missense | Canada (1) |
[32] | 1226 T > C | Exon 9 | Missense | Europe (1) |
[44] | 1306_1303insA, 1306_1307delTT | Exon 9 | Del/Ins | Austria (1) |
[18] | 1391-1392delTC | Exon 10 | Deletion | Europe (1) |
[36] | 1460 T > C | Exon 10 | Missense | Korea (1) |
[45] | 1466insC | Exon 10 | Insertion | UK (1) |
[22] | 1472insA | Exon 10 | Insertion | UK (1) |
[32] | 1476delAG | Exon 10 | Deletion | Europe (1) |
[26] | 1487del7 | Exon 10 | Deletion | New Zealand (1) |
[46] | 1507 C > T | Exon 10 | Non sense | China (1) |
[25] | 1565 + 1 G > T | Intron 10 | Splice site | New Zealand (1) |
[25] | 1565 + 2insT | Intron 10 | Insertion | USA (1) |
[26] | 1588insC | Exon 11 | Insertion | USA (1) |
[47] | 1610delC | Exon 11 | Deletion | Spain (1) |
[48] | 1619insG | Exon 11 | Insertion | Germany (1) |
[31] | 1682insA | Exon 11 | Insertion | Ireland (1) |
[25] | 1710delT | Exon 11 | Deletion | USA (1) |
[28] | 1711insG | Exon 11 | Insertion | USA (1) |
[32] | 1711 + 5 G > A | Intron 11 | Splice site | Europe (1) |
[49] | 1774 G > A | Exon 12 | Missense | Sweden (1) |
[32] | 1779insC | Exon 12 | Insertion | Europe (1) |
1792 C > T | Exon 12 | Non sense | UK (1) | |
[31] | 1795A > T | Exon 12 | Missense | Unknown (1) |
[32] | 1779insC | Exon 12 | Insertion | Europe (1) |
[6] | 1849 G > A | Exon 12 | Missense | USA (2) |
[31] | 1876 T > A | Exon 12 | Missense | Unknown (1) |
1901 C > T | Exon 12 | Missense/splice site | UK (1), New Zealand (1), Portugal (1) | |
[31] | 1913 G > A | Exon 12 | Nonsense | Spain (1) |
[19] | 1937-13 T > C | Intron 12 | Splice Site | USA (1) |
[32] | 2061delTG | Exon 13 | Deletion | Europe (1) |
[37] | 2064delTG | Exon 13 | Deletion | USA (1) |
2095 C > T | Exon 13 | Non sense | New Zealand (1), China (1) | |
[21] | 2161 C > G | Exon 13 | Splice site | Canada (1) |
[31] | 2164 + 5 G > A | Exon 14 | Splice site | Unknwon (1) |
[20] | del 14-16 | Ex 14-16 | Deletion | Europe (1) |
[32] | 2195 G > A | Exon 14 | Missense | Europe (1) |
[31] | 2245 C > T | Exon 14 | Missense | Colombia (1) |
[50] | 2269 G > A | Exon 14 | Missense | Portugal (1) |
[51] | 2275 G > T | Exon 14 | Nonsense | Iran (1) |
[21] | 2276delG | Exon 14 | Deletion | Canada (1) |
[5] | 2287 G > T | Exon 14 | Nonsense | Unknown (1) |
[25] | 2295 + 5 G > A | Intron 14 | Splice site | Europe (1) |
[32] | 2310delC | Exon 15 | Deletion | Europe (1) |
[31] | 2343A > T | Exon 15 | Missense | UK (1) |
[1] | 2381insC | Exon 15 | Insertion | New Zealand (1) |
[31] | 2392 G > A | Exon 15 | Missense | Unknown (1) |
[37] | 2395delC | Exon 15 | Deletion | USA (1) |
[48] | 2396 C > G | Exon 15 | Missense | Germany (1) |
[31] | 2398delC | Exon 15 | Deletion | Ireland (2) |
[19] | 2439 + 31 G > A | Intron 15 | Splice site | USA (1) |
[52] | 2399delG | Exon15 | Deletion | USA (1) |
[18] | 2440-6 C > G | Intron 15 | Splice site | Europe (1) |
[53] | 2494 G > A | Exon 16 | Missense | Japan (1) |
[20] | Del ex 16 | Exon 16 | Deletion | Europe (1) |