Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.51083996_51084026delinsGTGCGCACGCGCGCGCGCACACACACACACA | CA2302989615 | SMAD4 | c.*5529_*5559delinsGTGCGCACGCGCGCGCGCACACACACACACA (n.*5529_*5559delinsGTGCGCACGCGCGCGCGCACACACACACACA) n.7296_7326delinsGTGCGCACGCGCGCGCGCACACACACACACA | |
18 | g.51083997_51084026del | CA2302989629 | SMAD4 | c.*5530_*5559del (n.*5530_*5559del) n.7297_7326del | dbSNP |
18 | g.51084000_51084025del | CA629582366 | SMAD4 | c.*5533_*5558del (n.*5533_*5558del) n.7300_7325del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.51084004_51084025del | CA629582367 | SMAD4 | c.*5537_*5558del (n.*5537_*5558del) n.7304_7325del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.51084004_51084026delinsGCGCGCGCGCACACACACACACA | CA2302989652 | SMAD4 | c.*5537_*5559delinsGCGCGCGCGCACACACACACACA (n.*5537_*5559delinsGCGCGCGCGCACACACACACACA) n.7304_7326delinsGCGCGCGCGCACACACACACACA | |
18 | g.51084004_51084030delinsGCGCGCGCGCACACACACACACACACA | CA2302989654 | SMAD4 | c.*5537_*5563delinsGCGCGCGCGCACACACACACACACACA (n.*5537_*5563delinsGCGCGCGCGCACACACACACACACACA) n.7304_7330delinsGCGCGCGCGCACACACACACACACACA | |
18 | g.51084006_51084025del | CA780210177 | SMAD4 | c.*5539_*5558del (n.*5539_*5558del) n.7306_7325del | dbSNP gnomAD v4 |
18 | g.51084006_51084027del | CA780210180 | SMAD4 | c.*5539_*5560del (n.*5539_*5560del) n.7306_7327del | dbSNP |
18 | g.51084006_51084029del | CA2641864479 | SMAD4 | c.*5539_*5562del (n.*5539_*5562del) n.7306_7329del | gnomAD v4 |
18 | g.51084006_51084031del | CA2302989661 | SMAD4 | c.*5539_*5564del (n.*5539_*5564del) n.7306_7331del | dbSNP |
18 | g.51084006_51084026delinsGCGCGCGCACACACACACACA | CA2302989668 | SMAD4 | c.*5539_*5559delinsGCGCGCGCACACACACACACA (n.*5539_*5559delinsGCGCGCGCACACACACACACA) n.7306_7326delinsGCGCGCGCACACACACACACA | |
18 | g.51084008_51084097del | CA2641864480 | SMAD4 | c.*5541_*5630del (n.*5541_*5630del) n.7308_7397del | gnomAD v4 |
18 | g.51084008_51084025del | CA780210230 | SMAD4 | c.*5541_*5558del (n.*5541_*5558del) n.7308_7325del | dbSNP gnomAD v3 gnomAD v4 |
18 | g.51084008_51084027del | CA990248969 | SMAD4 | c.*5541_*5560del (n.*5541_*5560del) n.7308_7327del | dbSNP gnomAD v3 gnomAD v4 |
18 | g.51084008_51084029del | CA2641864482 | SMAD4 | c.*5541_*5562del (n.*5541_*5562del) n.7308_7329del | gnomAD v4 |
18 | g.51084008_51084031del | CA2641864481 | SMAD4 | c.*5541_*5564del (n.*5541_*5564del) n.7308_7331del | gnomAD v4 |
18 | g.51084011_51084094del | CA2812478667 | SMAD4 | c.*5544_*5627del (n.*5544_*5627del) n.7311_7394del | |
18 | g.51084010_51084025del | CA990249000 | SMAD4 | c.*5543_*5558del (n.*5543_*5558del) n.7310_7325del | dbSNP gnomAD v3 gnomAD v4 |
18 | g.51084012_51084025del | CA2302989695 | SMAD4 | c.*5545_*5558del (n.*5545_*5558del) n.7312_7325del | dbSNP |
18 | g.51084012_51084029dup | CA2594191140 | SMAD4 | c.*5545_*5562dup (n.*5545_*5562dup) n.7312_7329dup | gnomAD v3 gnomAD v4 |
18 | g.51084012_51084032delinsGCACACACACACACACACACA | CA2302989699 | SMAD4 | c.*5545_*5565delinsGCACACACACACACACACACA (n.*5545_*5565delinsGCACACACACACACACACACA) n.7312_7332delinsGCACACACACACACACACACA | |
18 | g.51084024_51084107del | CA2812478670 | SMAD4 | c.*5557_*5640del (n.*5557_*5640del) n.7324_7407del | |
18 | g.51084025_51084026insGCGCACACACACACACAC | CA990249137 | SMAD4 | c.*5558_*5559insGCGCACACACACACACAC (n.*5558_*5559insGCGCACACACACACACAC) n.7325_7326insGCGCACACACACACACAC | dbSNP gnomAD v3 gnomAD v4 |
18 | g.51084027_51084028insGCACACACACACACACAC | CA990249136 | SMAD4 | c.*5560_*5561insGCACACACACACACACAC (n.*5560_*5561insGCACACACACACACACAC) n.7327_7328insGCACACACACACACACAC | dbSNP gnomAD v3 gnomAD v4 |
18 | g.51084029_51084030insGCACACACACACACACACACAC | CA990249133 | SMAD4 | c.*5562_*5563insGCACACACACACACACACACAC (n.*5562_*5563insGCACACACACACACACACACAC) n.7329_7330insGCACACACACACACACACACAC | dbSNP gnomAD v3 gnomAD v4 |
18 | g.51084043_51084044dup | CA10641704 | SMAD4 | c.*5576_*5577dup (n.*5576_*5577dup) n.7343_7344dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.51084041_51084044dup | CA300092755 | SMAD4 | c.*5574_*5577dup (n.*5574_*5577dup) n.7341_7344dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.51084039_51084044dup | CA503874204 | SMAD4 | c.*5572_*5577dup (n.*5572_*5577dup) n.7339_7344dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.51084037_51084044dup | CA10651798 | SMAD4 | c.*5570_*5577dup (n.*5570_*5577dup) n.7337_7344dup | ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.51084035_51084044dup | CA780210439 | SMAD4 | c.*5568_*5577dup (n.*5568_*5577dup) n.7335_7344dup | dbSNP gnomAD v3 gnomAD v4 |
18 | g.51084033_51084044dup | CA780210462 | SMAD4 | c.*5566_*5577dup (n.*5566_*5577dup) n.7333_7344dup | dbSNP gnomAD v3 gnomAD v4 |
18 | g.51084031_51084044dup | CA10651795 | SMAD4 | c.*5564_*5577dup (n.*5564_*5577dup) n.7331_7344dup | ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.51084029_51084044dup | CA780210433 | SMAD4 | c.*5562_*5577dup (n.*5562_*5577dup) n.7329_7344dup | dbSNP gnomAD v3 gnomAD v4 |
18 | g.51084027_51084044dup | CA990249128 | SMAD4 | c.*5560_*5577dup (n.*5560_*5577dup) n.7327_7344dup | dbSNP gnomAD v3 gnomAD v4 |
18 | g.51084043_51084044del | CA10647807 | SMAD4 | c.*5576_*5577del (n.*5576_*5577del) n.7343_7344del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.51084041_51084044del | CA10641695 | SMAD4 | c.*5574_*5577del (n.*5574_*5577del) n.7341_7344del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.51084039_51084044del | CA10647805 | SMAD4 | c.*5572_*5577del (n.*5572_*5577del) n.7339_7344del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.51084037_51084044del | CA780210375 | SMAD4 | c.*5570_*5577del (n.*5570_*5577del) n.7337_7344del | dbSNP gnomAD v3 gnomAD v4 |
18 | g.51084035_51084044del | CA780210377 | SMAD4 | c.*5568_*5577del (n.*5568_*5577del) n.7335_7344del | dbSNP gnomAD v3 gnomAD v4 |
18 | g.51084033_51084044del | CA780210357 | SMAD4 | c.*5566_*5577del (n.*5566_*5577del) n.7333_7344del | dbSNP gnomAD v3 gnomAD v4 |
18 | g.51084031_51084044del | CA780210385 | SMAD4 | c.*5564_*5577del (n.*5564_*5577del) n.7331_7344del | dbSNP gnomAD v3 gnomAD v4 |
18 | g.51084029_51084044del | CA780210403 | SMAD4 | c.*5562_*5577del (n.*5562_*5577del) n.7329_7344del | dbSNP gnomAD v3 gnomAD v4 |
18 | g.51084027_51084044del | CA990249116 | SMAD4 | c.*5560_*5577del (n.*5560_*5577del) n.7327_7344del | dbSNP gnomAD v3 gnomAD v4 |
18 | g.51084025_51084044del | CA990249117 | SMAD4 | c.*5558_*5577del (n.*5558_*5577del) n.7325_7344del | dbSNP gnomAD v3 gnomAD v4 |
18 | g.51084014_51084044del | CA2572551645 | SMAD4 | c.*5547_*5577del (n.*5547_*5577del) n.7314_7344del | |
18 | g.51084014_51084095del | CA629582396 | SMAD4 | c.*5547_*5628del (n.*5547_*5628del) n.7314_7395del | gnomAD v2 |
18 | g.51084026_51084027insTACACACACA | CA2641864496 | SMAD4 | c.*5559_*5560insTACACACACA (n.*5559_*5560insTACACACACA) n.7326_7327insTACACACACA | gnomAD v4 |
18 | g.51084030_51084107del | CA2641864499 | SMAD4 | c.*5563_*5640del (n.*5563_*5640del) n.7330_7407del | gnomAD v4 |
18 | g.51084021_51084025del | CA2641864502 | SMAD4 | c.*5554_*5558del (n.*5554_*5558del) n.7321_7325del | gnomAD v4 |
18 | g.51084032_51084107del | CA2641864501 | SMAD4 | c.*5565_*5640del (n.*5565_*5640del) n.7332_7407del | gnomAD v4 |