clingenPreferredTitle
is now communityStandardTitle
Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
21 | g.25891464_25891465delinsTG | CA2383551457 | APP | c.2211+257_2211+258delinsCA (p.=) c.1986+257_1986+258delinsCA (p.=) c.1818+257_1818+258delinsCA (p.=) c.2154+257_2154+258delinsCA (p.=) c.2157+257_2157+258delinsCA (p.=) c.1881+257_1881+258delinsCA (p.=) c.2043+257_2043+258delinsCA (p.=) c.2139+257_2139+258delinsCA (p.=) n.558+257_558+258delinsCA c.2100+257_2100+258delinsCA (p.=) c.1932+257_1932+258delinsCA (p.=) | |
21 | g.25891465del | CA2383551458 | APP | c.2211+257del (p.=) c.1986+257del (p.=) c.1818+257del (p.=) c.2154+257del (p.=) c.2157+257del (p.=) c.1881+257del (p.=) c.2043+257del (p.=) c.2139+257del (p.=) n.558+257del c.2100+257del (p.=) c.1932+257del (p.=) | dbSNP |
21 | g.25891465G>A | CA319097248 | APP | c.2211+257C>T (p.=) c.1986+257C>T (p.=) c.1818+257C>T (p.=) c.2154+257C>T (p.=) c.2157+257C>T (p.=) c.1881+257C>T (p.=) c.2043+257C>T (p.=) c.2139+257C>T (p.=) n.558+257C>T c.2100+257C>T (p.=) c.1932+257C>T (p.=) | dbSNP |
21 | g.25891465G= | CA2383551459 | APP | c.2211+257C= (p.=) c.1986+257C= (p.=) c.1818+257C= (p.=) c.2154+257C= (p.=) c.2157+257C= (p.=) c.1881+257C= (p.=) c.2043+257C= (p.=) c.2139+257C= (p.=) n.558+257C= c.2100+257C= (p.=) c.1932+257C= (p.=) | |
21 | g.25891466T>C | CA2383551461 | APP | c.2211+256A>G (p.=) c.1986+256A>G (p.=) c.1818+256A>G (p.=) c.2154+256A>G (p.=) c.2157+256A>G (p.=) c.1881+256A>G (p.=) c.2043+256A>G (p.=) c.2139+256A>G (p.=) n.558+256A>G c.2100+256A>G (p.=) c.1932+256A>G (p.=) | |
21 | g.25891466T= | CA2383551460 | APP | c.2211+256A= (p.=) c.1986+256A= (p.=) c.1818+256A= (p.=) c.2154+256A= (p.=) c.2157+256A= (p.=) c.1881+256A= (p.=) c.2043+256A= (p.=) c.2139+256A= (p.=) n.558+256A= c.2100+256A= (p.=) c.1932+256A= (p.=) | |
21 | g.25891467A= | CA2383551462 | APP | c.2211+255T= (p.=) c.1986+255T= (p.=) c.1818+255T= (p.=) c.2154+255T= (p.=) c.2157+255T= (p.=) c.1881+255T= (p.=) c.2043+255T= (p.=) c.2139+255T= (p.=) n.558+255T= c.2100+255T= (p.=) c.1932+255T= (p.=) | |
21 | g.25891467A>G | CA748242466 | APP | c.2211+255T>C (p.=) c.1986+255T>C (p.=) c.1818+255T>C (p.=) c.2154+255T>C (p.=) c.2157+255T>C (p.=) c.1881+255T>C (p.=) c.2043+255T>C (p.=) c.2139+255T>C (p.=) n.558+255T>C c.2100+255T>C (p.=) c.1932+255T>C (p.=) | |
21 | g.25891470A= | CA2383551464 | APP | c.2211+252T= (p.=) c.1986+252T= (p.=) c.1818+252T= (p.=) c.2154+252T= (p.=) c.2157+252T= (p.=) c.1881+252T= (p.=) c.2043+252T= (p.=) c.2139+252T= (p.=) n.558+252T= c.2100+252T= (p.=) c.1932+252T= (p.=) | |
21 | g.25891470A>G | CA748242472 | APP | c.2211+252T>C (p.=) c.1986+252T>C (p.=) c.1818+252T>C (p.=) c.2154+252T>C (p.=) c.2157+252T>C (p.=) c.1881+252T>C (p.=) c.2043+252T>C (p.=) c.2139+252T>C (p.=) n.558+252T>C c.2100+252T>C (p.=) c.1932+252T>C (p.=) | |
21 | g.25891470_25891471delinsAT | CA2383551463 | APP | c.2211+251_2211+252delinsAT (p.=) c.1986+251_1986+252delinsAT (p.=) c.1818+251_1818+252delinsAT (p.=) c.2154+251_2154+252delinsAT (p.=) c.2157+251_2157+252delinsAT (p.=) c.1881+251_1881+252delinsAT (p.=) c.2043+251_2043+252delinsAT (p.=) c.2139+251_2139+252delinsAT (p.=) n.558+251_558+252delinsAT c.2100+251_2100+252delinsAT (p.=) c.1932+251_1932+252delinsAT (p.=) | |
21 | g.25891474del | CA637162580 | APP | c.2211+251del (p.=) c.1986+251del (p.=) c.1818+251del (p.=) c.2154+251del (p.=) c.2157+251del (p.=) c.1881+251del (p.=) c.2043+251del (p.=) c.2139+251del (p.=) n.558+251del c.2100+251del (p.=) c.1932+251del (p.=) | dbSNP gnomAD |
21 | g.25891476A= | CA2383551465 | APP | c.2211+246T= (p.=) c.1986+246T= (p.=) c.1818+246T= (p.=) c.2154+246T= (p.=) c.2157+246T= (p.=) c.1881+246T= (p.=) c.2043+246T= (p.=) c.2139+246T= (p.=) n.558+246T= c.2100+246T= (p.=) c.1932+246T= (p.=) | |
21 | g.25891476A>G | CA1021421384 | APP | c.2211+246T>C (p.=) c.1986+246T>C (p.=) c.1818+246T>C (p.=) c.2154+246T>C (p.=) c.2157+246T>C (p.=) c.1881+246T>C (p.=) c.2043+246T>C (p.=) c.2139+246T>C (p.=) n.558+246T>C c.2100+246T>C (p.=) c.1932+246T>C (p.=) | |
21 | g.25891483C>A | CA319097251 | APP | c.2211+239G>T (p.=) c.1986+239G>T (p.=) c.1818+239G>T (p.=) c.2154+239G>T (p.=) c.2157+239G>T (p.=) c.1881+239G>T (p.=) c.2043+239G>T (p.=) c.2139+239G>T (p.=) n.558+239G>T c.2100+239G>T (p.=) c.1932+239G>T (p.=) | dbSNP |
21 | g.25891483C= | CA2383551466 | APP | c.2211+239G= (p.=) c.1986+239G= (p.=) c.1818+239G= (p.=) c.2154+239G= (p.=) c.2157+239G= (p.=) c.1881+239G= (p.=) c.2043+239G= (p.=) c.2139+239G= (p.=) n.558+239G= c.2100+239G= (p.=) c.1932+239G= (p.=) | |
21 | g.25891486C= | CA2383551467 | APP | c.2211+236G= (p.=) c.1986+236G= (p.=) c.1818+236G= (p.=) c.2154+236G= (p.=) c.2157+236G= (p.=) c.1881+236G= (p.=) c.2043+236G= (p.=) c.2139+236G= (p.=) n.558+236G= c.2100+236G= (p.=) c.1932+236G= (p.=) | |
21 | g.25891486C>G | CA637162581 | APP | c.2211+236G>C (p.=) c.1986+236G>C (p.=) c.1818+236G>C (p.=) c.2154+236G>C (p.=) c.2157+236G>C (p.=) c.1881+236G>C (p.=) c.2043+236G>C (p.=) c.2139+236G>C (p.=) n.558+236G>C c.2100+236G>C (p.=) c.1932+236G>C (p.=) | gnomAD |
21 | g.25891487A= | CA2383551468 | APP | c.2211+235T= (p.=) c.1986+235T= (p.=) c.1818+235T= (p.=) c.2154+235T= (p.=) c.2157+235T= (p.=) c.1881+235T= (p.=) c.2043+235T= (p.=) c.2139+235T= (p.=) n.558+235T= c.2100+235T= (p.=) c.1932+235T= (p.=) | |
21 | g.25891487A>G | CA748242485 | APP | c.2211+235T>C (p.=) c.1986+235T>C (p.=) c.1818+235T>C (p.=) c.2154+235T>C (p.=) c.2157+235T>C (p.=) c.1881+235T>C (p.=) c.2043+235T>C (p.=) c.2139+235T>C (p.=) n.558+235T>C c.2100+235T>C (p.=) c.1932+235T>C (p.=) | |
21 | g.25891488C= | CA2383551469 | APP | c.2211+234G= (p.=) c.1986+234G= (p.=) c.1818+234G= (p.=) c.2154+234G= (p.=) c.2157+234G= (p.=) c.1881+234G= (p.=) c.2043+234G= (p.=) c.2139+234G= (p.=) n.558+234G= c.2100+234G= (p.=) c.1932+234G= (p.=) | |
21 | g.25891488C>G | CA2383551470 | APP | c.2211+234G>C (p.=) c.1986+234G>C (p.=) c.1818+234G>C (p.=) c.2154+234G>C (p.=) c.2157+234G>C (p.=) c.1881+234G>C (p.=) c.2043+234G>C (p.=) c.2139+234G>C (p.=) n.558+234G>C c.2100+234G>C (p.=) c.1932+234G>C (p.=) | |
21 | g.25891490A= | CA2383551471 | APP | c.2211+232T= (p.=) c.1986+232T= (p.=) c.1818+232T= (p.=) c.2154+232T= (p.=) c.2157+232T= (p.=) c.1881+232T= (p.=) c.2043+232T= (p.=) c.2139+232T= (p.=) n.558+232T= c.2100+232T= (p.=) c.1932+232T= (p.=) | |
21 | g.25891490A>G | CA748242489 | APP | c.2211+232T>C (p.=) c.1986+232T>C (p.=) c.1818+232T>C (p.=) c.2154+232T>C (p.=) c.2157+232T>C (p.=) c.1881+232T>C (p.=) c.2043+232T>C (p.=) c.2139+232T>C (p.=) n.558+232T>C c.2100+232T>C (p.=) c.1932+232T>C (p.=) | |
21 | g.25891493T>A | CA2383551472 | APP | c.2211+229A>T (p.=) c.1986+229A>T (p.=) c.1818+229A>T (p.=) c.2154+229A>T (p.=) c.2157+229A>T (p.=) c.1881+229A>T (p.=) c.2043+229A>T (p.=) c.2139+229A>T (p.=) n.558+229A>T c.2100+229A>T (p.=) c.1932+229A>T (p.=) | |
21 | g.25891493T= | CA2383551473 | APP | c.2211+229A= (p.=) c.1986+229A= (p.=) c.1818+229A= (p.=) c.2154+229A= (p.=) c.2157+229A= (p.=) c.1881+229A= (p.=) c.2043+229A= (p.=) c.2139+229A= (p.=) n.558+229A= c.2100+229A= (p.=) c.1932+229A= (p.=) | |
21 | g.25891494G>C | CA914650638 | APP | c.2211+228C>G (p.=) c.1986+228C>G (p.=) c.1818+228C>G (p.=) c.2154+228C>G (p.=) c.2157+228C>G (p.=) c.1881+228C>G (p.=) c.2043+228C>G (p.=) c.2139+228C>G (p.=) n.558+228C>G c.2100+228C>G (p.=) c.1932+228C>G (p.=) | gnomAD |
21 | g.25891494G= | CA2383551474 | APP | c.2211+228C= (p.=) c.1986+228C= (p.=) c.1818+228C= (p.=) c.2154+228C= (p.=) c.2157+228C= (p.=) c.1881+228C= (p.=) c.2043+228C= (p.=) c.2139+228C= (p.=) n.558+228C= c.2100+228C= (p.=) c.1932+228C= (p.=) | |
21 | g.25891498G= | CA2383551475 | APP | c.2211+224C= (p.=) c.1986+224C= (p.=) c.1818+224C= (p.=) c.2154+224C= (p.=) c.2157+224C= (p.=) c.1881+224C= (p.=) c.2043+224C= (p.=) c.2139+224C= (p.=) n.558+224C= c.2100+224C= (p.=) c.1932+224C= (p.=) | |
21 | g.25891498G>T | CA748242493 | APP | c.2211+224C>A (p.=) c.1986+224C>A (p.=) c.1818+224C>A (p.=) c.2154+224C>A (p.=) c.2157+224C>A (p.=) c.1881+224C>A (p.=) c.2043+224C>A (p.=) c.2139+224C>A (p.=) n.558+224C>A c.2100+224C>A (p.=) c.1932+224C>A (p.=) | |
21 | g.25891499T>C | CA2383551477 | APP | c.2211+223A>G (p.=) c.1986+223A>G (p.=) c.1818+223A>G (p.=) c.2154+223A>G (p.=) c.2157+223A>G (p.=) c.1881+223A>G (p.=) c.2043+223A>G (p.=) c.2139+223A>G (p.=) n.558+223A>G c.2100+223A>G (p.=) c.1932+223A>G (p.=) | |
21 | g.25891499T= | CA2383551476 | APP | c.2211+223A= (p.=) c.1986+223A= (p.=) c.1818+223A= (p.=) c.2154+223A= (p.=) c.2157+223A= (p.=) c.1881+223A= (p.=) c.2043+223A= (p.=) c.2139+223A= (p.=) n.558+223A= c.2100+223A= (p.=) c.1932+223A= (p.=) | |
21 | g.25891501G>A | CA1021421389 | APP | c.2211+221C>T (p.=) c.1986+221C>T (p.=) c.1818+221C>T (p.=) c.2154+221C>T (p.=) c.2157+221C>T (p.=) c.1881+221C>T (p.=) c.2043+221C>T (p.=) c.2139+221C>T (p.=) n.558+221C>T c.2100+221C>T (p.=) c.1932+221C>T (p.=) | |
21 | g.25891501G= | CA2383551478 | APP | c.2211+221C= (p.=) c.1986+221C= (p.=) c.1818+221C= (p.=) c.2154+221C= (p.=) c.2157+221C= (p.=) c.1881+221C= (p.=) c.2043+221C= (p.=) c.2139+221C= (p.=) n.558+221C= c.2100+221C= (p.=) c.1932+221C= (p.=) | |
21 | g.25891503G>A | CA319097255 | APP | c.2211+219C>T (p.=) c.1986+219C>T (p.=) c.1818+219C>T (p.=) c.2154+219C>T (p.=) c.2157+219C>T (p.=) c.1881+219C>T (p.=) c.2043+219C>T (p.=) c.2139+219C>T (p.=) n.558+219C>T c.2100+219C>T (p.=) c.1932+219C>T (p.=) | dbSNP gnomAD |
21 | g.25891503G= | CA2383551479 | APP | c.2211+219C= (p.=) c.1986+219C= (p.=) c.1818+219C= (p.=) c.2154+219C= (p.=) c.2157+219C= (p.=) c.1881+219C= (p.=) c.2043+219C= (p.=) c.2139+219C= (p.=) n.558+219C= c.2100+219C= (p.=) c.1932+219C= (p.=) | |
21 | g.25891504A= | CA2383551480 | APP | c.2211+218T= (p.=) c.1986+218T= (p.=) c.1818+218T= (p.=) c.2154+218T= (p.=) c.2157+218T= (p.=) c.1881+218T= (p.=) c.2043+218T= (p.=) c.2139+218T= (p.=) n.558+218T= c.2100+218T= (p.=) c.1932+218T= (p.=) | |
21 | g.25891504A>G | CA2383551481 | APP | c.2211+218T>C (p.=) c.1986+218T>C (p.=) c.1818+218T>C (p.=) c.2154+218T>C (p.=) c.2157+218T>C (p.=) c.1881+218T>C (p.=) c.2043+218T>C (p.=) c.2139+218T>C (p.=) n.558+218T>C c.2100+218T>C (p.=) c.1932+218T>C (p.=) | |
21 | g.25891505_25891508delinsTAAC | CA2383551482 | APP | c.2211+214_2211+217delinsGTTA (p.=) c.1986+214_1986+217delinsGTTA (p.=) c.1818+214_1818+217delinsGTTA (p.=) c.2154+214_2154+217delinsGTTA (p.=) c.2157+214_2157+217delinsGTTA (p.=) c.1881+214_1881+217delinsGTTA (p.=) c.2043+214_2043+217delinsGTTA (p.=) c.2139+214_2139+217delinsGTTA (p.=) n.558+214_558+217delinsGTTA c.2100+214_2100+217delinsGTTA (p.=) c.1932+214_1932+217delinsGTTA (p.=) | |
21 | g.25891506A= | CA2383551484 | APP | c.2211+216T= (p.=) c.1986+216T= (p.=) c.1818+216T= (p.=) c.2154+216T= (p.=) c.2157+216T= (p.=) c.1881+216T= (p.=) c.2043+216T= (p.=) c.2139+216T= (p.=) n.558+216T= c.2100+216T= (p.=) c.1932+216T= (p.=) | |
21 | g.25891506A>G | CA319097264 | APP | c.2211+216T>C (p.=) c.1986+216T>C (p.=) c.1818+216T>C (p.=) c.2154+216T>C (p.=) c.2157+216T>C (p.=) c.1881+216T>C (p.=) c.2043+216T>C (p.=) c.2139+216T>C (p.=) n.558+216T>C c.2100+216T>C (p.=) c.1932+216T>C (p.=) | dbSNP gnomAD |
21 | g.25891510_25891512del | CA2383551483 | APP | c.2211+214_2211+216del (p.=) c.1986+214_1986+216del (p.=) c.1818+214_1818+216del (p.=) c.2154+214_2154+216del (p.=) c.2157+214_2157+216del (p.=) c.1881+214_1881+216del (p.=) c.2043+214_2043+216del (p.=) c.2139+214_2139+216del (p.=) n.558+214_558+216del c.2100+214_2100+216del (p.=) c.1932+214_1932+216del (p.=) | dbSNP |
21 | g.25891508C>A | CA319097271 | APP | c.2211+214G>T (p.=) c.1986+214G>T (p.=) c.1818+214G>T (p.=) c.2154+214G>T (p.=) c.2157+214G>T (p.=) c.1881+214G>T (p.=) c.2043+214G>T (p.=) c.2139+214G>T (p.=) n.558+214G>T c.2100+214G>T (p.=) c.1932+214G>T (p.=) | dbSNP |
21 | g.25891508C= | CA2383551485 | APP | c.2211+214G= (p.=) c.1986+214G= (p.=) c.1818+214G= (p.=) c.2154+214G= (p.=) c.2157+214G= (p.=) c.1881+214G= (p.=) c.2043+214G= (p.=) c.2139+214G= (p.=) n.558+214G= c.2100+214G= (p.=) c.1932+214G= (p.=) | |
21 | g.25891508_25891509delinsCA | CA2383551486 | APP | c.2211+213_2211+214delinsTG (p.=) c.1986+213_1986+214delinsTG (p.=) c.1818+213_1818+214delinsTG (p.=) c.2154+213_2154+214delinsTG (p.=) c.2157+213_2157+214delinsTG (p.=) c.1881+213_1881+214delinsTG (p.=) c.2043+213_2043+214delinsTG (p.=) c.2139+213_2139+214delinsTG (p.=) n.558+213_558+214delinsTG c.2100+213_2100+214delinsTG (p.=) c.1932+213_1932+214delinsTG (p.=) | |
21 | g.25891510del | CA2383551487 | APP | c.2211+213del (p.=) c.1986+213del (p.=) c.1818+213del (p.=) c.2154+213del (p.=) c.2157+213del (p.=) c.1881+213del (p.=) c.2043+213del (p.=) c.2139+213del (p.=) n.558+213del c.2100+213del (p.=) c.1932+213del (p.=) | dbSNP |
21 | g.25891509_25891511delinsAAC | CA2383551488 | APP | c.2211+211_2211+213delinsGTT (p.=) c.1986+211_1986+213delinsGTT (p.=) c.1818+211_1818+213delinsGTT (p.=) c.2154+211_2154+213delinsGTT (p.=) c.2157+211_2157+213delinsGTT (p.=) c.1881+211_1881+213delinsGTT (p.=) c.2043+211_2043+213delinsGTT (p.=) c.2139+211_2139+213delinsGTT (p.=) n.558+211_558+213delinsGTT c.2100+211_2100+213delinsGTT (p.=) c.1932+211_1932+213delinsGTT (p.=) | |
21 | g.25891510A= | CA2383551490 | APP | c.2211+212T= (p.=) c.1986+212T= (p.=) c.1818+212T= (p.=) c.2154+212T= (p.=) c.2157+212T= (p.=) c.1881+212T= (p.=) c.2043+212T= (p.=) c.2139+212T= (p.=) n.558+212T= c.2100+212T= (p.=) c.1932+212T= (p.=) | |
21 | g.25891510A>T | CA2383551491 | APP | c.2211+212T>A (p.=) c.1986+212T>A (p.=) c.1818+212T>A (p.=) c.2154+212T>A (p.=) c.2157+212T>A (p.=) c.1881+212T>A (p.=) c.2043+212T>A (p.=) c.2139+212T>A (p.=) n.558+212T>A c.2100+212T>A (p.=) c.1932+212T>A (p.=) | |
21 | g.25891516_25891517del | CA2383551489 | APP | c.2211+211_2211+212del (p.=) c.1986+211_1986+212del (p.=) c.1818+211_1818+212del (p.=) c.2154+211_2154+212del (p.=) c.2157+211_2157+212del (p.=) c.1881+211_1881+212del (p.=) c.2043+211_2043+212del (p.=) c.2139+211_2139+212del (p.=) n.558+211_558+212del c.2100+211_2100+212del (p.=) c.1932+211_1932+212del (p.=) | dbSNP |