Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.73186859C>ACA390295902PSEN1c.487C>A (p.His163Asn)
c.475C>A (p.His159Asn)
c.211C>A (p.His71Asn)
n.487C>A (p.His163Asn)
n.475C>A (p.His159Asn)
14g.73186859C=CA2146470669PSEN1c.487C= (p.His163=)
c.475C= (p.His159=)
c.211C= (p.His71=)
n.487C= (p.His163=)
n.475C= (p.His159=)
14g.73186859C>GCA390295906PSEN1c.487C>G (p.His163Asp)
c.475C>G (p.His159Asp)
c.211C>G (p.His71Asp)
n.487C>G (p.His163Asp)
n.475C>G (p.His159Asp)
14g.73186859C>TCA225033PSEN1c.487C>T (p.His163Tyr)
c.475C>T (p.His159Tyr)
c.211C>T (p.His71Tyr)
n.487C>T (p.His163Tyr)
n.475C>T (p.His159Tyr)
ClinVar dbSNP
14g.73186860A=CA2146470671PSEN1c.488A= (p.His163=)
c.476A= (p.His159=)
c.212A= (p.His71=)
n.488A= (p.His163=)
n.476A= (p.His159=)
14g.73186860A>CCA390295917PSEN1c.488A>C (p.His163Pro)
c.476A>C (p.His159Pro)
c.212A>C (p.His71Pro)
n.488A>C (p.His163Pro)
n.476A>C (p.His159Pro)
14g.73186860A>GCA225034PSEN1c.488A>G (p.His163Arg)
c.476A>G (p.His159Arg)
c.212A>G (p.His71Arg)
n.488A>G (p.His163Arg)
n.476A>G (p.His159Arg)
ClinVar dbSNP
14g.73186860A>TCA390295923PSEN1c.488A>T (p.His163Leu)
c.476A>T (p.His159Leu)
c.212A>T (p.His71Leu)
n.488A>T (p.His163Leu)
n.476A>T (p.His159Leu)
14g.73186861T>ACA390295928PSEN1c.489T>A (p.His163Gln)
c.477T>A (p.His159Gln)
c.213T>A (p.His71Gln)
n.489T>A (p.His163Gln)
n.477T>A (p.His159Gln)
14g.73186861T>CCA487094323PSEN1c.489T>C (p.His163=)
c.477T>C (p.His159=)
c.213T>C (p.His71=)
n.489T>C (p.His163=)
n.477T>C (p.His159=)
14g.73186861T>GCA390295932PSEN1c.489T>G (p.His163Gln)
c.477T>G (p.His159Gln)
c.213T>G (p.His71Gln)
n.489T>G (p.His163Gln)
n.477T>G (p.His159Gln)
14g.73186862G>ACA390295935PSEN1c.490G>A (p.Ala164Thr)
c.478G>A (p.Ala160Thr)
c.214G>A (p.Ala72Thr)
n.490G>A (p.Ala164Thr)
n.478G>A (p.Ala160Thr)
14g.73186862G>CCA390295936PSEN1c.490G>C (p.Ala164Pro)
c.478G>C (p.Ala160Pro)
c.214G>C (p.Ala72Pro)
n.490G>C (p.Ala164Pro)
n.478G>C (p.Ala160Pro)
14g.73186862G>TCA390295940PSEN1c.490G>T (p.Ala164Ser)
c.478G>T (p.Ala160Ser)
c.214G>T (p.Ala72Ser)
n.490G>T (p.Ala164Ser)
n.478G>T (p.Ala160Ser)
14g.73186863C>ACA390295947PSEN1c.491C>A (p.Ala164Asp)
c.479C>A (p.Ala160Asp)
c.215C>A (p.Ala72Asp)
n.491C>A (p.Ala164Asp)
n.479C>A (p.Ala160Asp)
14g.73186863C=CA2146470676PSEN1c.491C= (p.Ala164=)
c.479C= (p.Ala160=)
c.215C= (p.Ala72=)
n.491C= (p.Ala164=)
n.479C= (p.Ala160=)
14g.73186863C>GCA390295950PSEN1c.491C>G (p.Ala164Gly)
c.479C>G (p.Ala160Gly)
c.215C>G (p.Ala72Gly)
n.491C>G (p.Ala164Gly)
n.479C>G (p.Ala160Gly)
14g.73186863C>TCA390295943PSEN1c.491C>T (p.Ala164Val)
c.479C>T (p.Ala160Val)
c.215C>T (p.Ala72Val)
n.491C>T (p.Ala164Val)
n.479C>T (p.Ala160Val)
ClinVar
14g.73186864C>ACA487094325PSEN1c.492C>A (p.Ala164=)
c.480C>A (p.Ala160=)
c.216C>A (p.Ala72=)
n.492C>A (p.Ala164=)
n.480C>A (p.Ala160=)
14g.73186864C=CA2146470684PSEN1c.492C= (p.Ala164=)
c.480C= (p.Ala160=)
c.216C= (p.Ala72=)
n.492C= (p.Ala164=)
n.480C= (p.Ala160=)
14g.73186864C>GCA487094326PSEN1c.492C>G (p.Ala164=)
c.480C>G (p.Ala160=)
c.216C>G (p.Ala72=)
n.492C>G (p.Ala164=)
n.480C>G (p.Ala160=)
gnomAD
14g.73186864C>TCA487094327PSEN1c.492C>T (p.Ala164=)
c.480C>T (p.Ala160=)
c.216C>T (p.Ala72=)
n.492C>T (p.Ala164=)
n.480C>T (p.Ala160=)
gnomAD
14g.73186865T>ACA390295956PSEN1c.493T>A (p.Trp165Arg)
c.481T>A (p.Trp161Arg)
c.217T>A (p.Trp73Arg)
n.493T>A (p.Trp165Arg)
n.481T>A (p.Trp161Arg)
14g.73186865T>CCA390295959PSEN1c.493T>C (p.Trp165Arg)
c.481T>C (p.Trp161Arg)
c.217T>C (p.Trp73Arg)
n.493T>C (p.Trp165Arg)
n.481T>C (p.Trp161Arg)
14g.73186865T>GCA225035PSEN1c.493T>G (p.Trp165Gly)
c.481T>G (p.Trp161Gly)
c.217T>G (p.Trp73Gly)
n.493T>G (p.Trp165Gly)
n.481T>G (p.Trp161Gly)
ClinVar dbSNP
14g.73186865T=CA2146470685PSEN1c.493T= (p.Trp165=)
c.481T= (p.Trp161=)
c.217T= (p.Trp73=)
n.493T= (p.Trp165=)
n.481T= (p.Trp161=)
14g.73186866G>ACA390295960PSEN1c.494G>A (p.Trp165Ter)
c.482G>A (p.Trp161Ter)
c.218G>A (p.Trp73Ter)
n.494G>A (p.Trp165Ter)
n.482G>A (p.Trp161Ter)
14g.73186866G>CCA390295961PSEN1c.494G>C (p.Trp165Ser)
c.482G>C (p.Trp161Ser)
c.218G>C (p.Trp73Ser)
n.494G>C (p.Trp165Ser)
n.482G>C (p.Trp161Ser)
14g.73186866G=CA2146470691PSEN1c.494G= (p.Trp165=)
c.482G= (p.Trp161=)
c.218G= (p.Trp73=)
n.494G= (p.Trp165=)
n.482G= (p.Trp161=)
14g.73186866G>TCA390295964PSEN1c.494G>T (p.Trp165Leu)
c.482G>T (p.Trp161Leu)
c.218G>T (p.Trp73Leu)
n.494G>T (p.Trp165Leu)
n.482G>T (p.Trp161Leu)
ClinVar
14g.73186867G>ACA390295970PSEN1c.495G>A (p.Trp165Ter)
c.483G>A (p.Trp161Ter)
c.219G>A (p.Trp73Ter)
n.495G>A (p.Trp165Ter)
n.483G>A (p.Trp161Ter)
14g.73186867G>CCA225037PSEN1c.495G>C (p.Trp165Cys)
c.483G>C (p.Trp161Cys)
c.219G>C (p.Trp73Cys)
n.495G>C (p.Trp165Cys)
n.483G>C (p.Trp161Cys)
ClinVar dbSNP
14g.73186867G=CA2146470698PSEN1c.495G= (p.Trp165=)
c.483G= (p.Trp161=)
c.219G= (p.Trp73=)
n.495G= (p.Trp165=)
n.483G= (p.Trp161=)
14g.73186867G>TCA390295972PSEN1c.495G>T (p.Trp165Cys)
c.483G>T (p.Trp161Cys)
c.219G>T (p.Trp73Cys)
n.495G>T (p.Trp165Cys)
n.483G>T (p.Trp161Cys)
14g.73186867_73186870delinsGCTTCA2146470696PSEN1c.495_498delinsGCTT (p.Trp165=)
c.483_486delinsGCTT (p.Trp161=)
c.219_222delinsGCTT (p.Trp73=)
n.495_498delinsGCTT (p.Trp165=)
n.483_486delinsGCTT (p.Trp161=)
14g.73186868C>ACA390295984PSEN1c.496C>A (p.Leu166Ile)
c.484C>A (p.Leu162Ile)
c.220C>A (p.Leu74Ile)
n.496C>A (p.Leu166Ile)
n.484C>A (p.Leu162Ile)
14g.73186868C=CA2146470708PSEN1c.496C= (p.Leu166=)
c.484C= (p.Leu162=)
c.220C= (p.Leu74=)
n.496C= (p.Leu166=)
n.484C= (p.Leu162=)
14g.73186868C>GCA390295988PSEN1c.496C>G (p.Leu166Val)
c.484C>G (p.Leu162Val)
c.220C>G (p.Leu74Val)
n.496C>G (p.Leu166Val)
n.484C>G (p.Leu162Val)
14g.73186868C>TCA390295991PSEN1c.496C>T (p.Leu166Phe)
c.484C>T (p.Leu162Phe)
c.220C>T (p.Leu74Phe)
n.496C>T (p.Leu166Phe)
n.484C>T (p.Leu162Phe)
14g.73186868_73186870delCA225038PSEN1c.496_498del (p.Leu166del)
c.484_486del (p.Leu162del)
c.220_222del (p.Leu74del)
n.496_498del (p.Leu166del)
n.484_486del (p.Leu162del)
ClinVar dbSNP
14g.73186868_73186871delinsCTTACA2146470706PSEN1c.496_499delinsCTTA (p.Leu166=)
c.484_487delinsCTTA (p.Leu162=)
c.220_223delinsCTTA (p.Leu74=)
n.496_499delinsCTTA (p.Leu166=)
n.484_487delinsCTTA (p.Leu162=)
14g.73186869T>ACA390296001PSEN1c.497T>A (p.Leu166His)
c.485T>A (p.Leu162His)
c.221T>A (p.Leu74His)
n.497T>A (p.Leu166His)
n.485T>A (p.Leu162His)
14g.73186869T>CCA258123PSEN1c.497T>C (p.Leu166Pro)
c.485T>C (p.Leu162Pro)
c.221T>C (p.Leu74Pro)
n.497T>C (p.Leu166Pro)
n.485T>C (p.Leu162Pro)
ClinVar dbSNP
14g.73186869T>GCA225040PSEN1c.497T>G (p.Leu166Arg)
c.485T>G (p.Leu162Arg)
c.221T>G (p.Leu74Arg)
n.497T>G (p.Leu166Arg)
n.485T>G (p.Leu162Arg)
ClinVar dbSNP
14g.73186869T=CA2146470716PSEN1c.497T= (p.Leu166=)
c.485T= (p.Leu162=)
c.221T= (p.Leu74=)
n.497T= (p.Leu166=)
n.485T= (p.Leu162=)
14g.73186873_73186875delCA225042PSEN1c.501_503del (p.Ile168del)
c.489_491del (p.Ile164del)
c.225_227del (p.Ile76del)
n.501_503del (p.Ile168del)
n.489_491del (p.Ile164del)
dbSNP
14g.73186870T>ACA487094328PSEN1c.498T>A (p.Leu166=)
c.486T>A (p.Leu162=)
c.222T>A (p.Leu74=)
n.498T>A (p.Leu166=)
n.486T>A (p.Leu162=)
14g.73186870T>CCA487094329PSEN1c.498T>C (p.Leu166=)
c.486T>C (p.Leu162=)
c.222T>C (p.Leu74=)
n.498T>C (p.Leu166=)
n.486T>C (p.Leu162=)
14g.73186870T>GCA487094330PSEN1c.498T>G (p.Leu166=)
c.486T>G (p.Leu162=)
c.222T>G (p.Leu74=)
n.498T>G (p.Leu166=)
n.486T>G (p.Leu162=)
COSMIC
14g.73186871A>CCA390296017PSEN1c.499A>C (p.Ile167Leu)
c.487A>C (p.Ile163Leu)
c.223A>C (p.Ile75Leu)
n.499A>C (p.Ile167Leu)
n.487A>C (p.Ile163Leu)

Number of alleles fetched