Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.73186877T>ACA390296058PSEN1c.505T>A (p.Ser169Thr)
c.493T>A (p.Ser165Thr)
c.229T>A (p.Ser77Thr)
n.505T>A (p.Ser169Thr)
n.493T>A (p.Ser165Thr)
14g.73186877T>CCA225044PSEN1c.505T>C (p.Ser169Pro)
c.493T>C (p.Ser165Pro)
c.229T>C (p.Ser77Pro)
n.505T>C (p.Ser169Pro)
n.493T>C (p.Ser165Pro)
ClinVar dbSNP
14g.73186877T>GCA390296067PSEN1c.505T>G (p.Ser169Ala)
c.493T>G (p.Ser165Ala)
c.229T>G (p.Ser77Ala)
n.505T>G (p.Ser169Ala)
n.493T>G (p.Ser165Ala)
14g.73186877T=CA2146470735PSEN1c.505T= (p.Ser169=)
c.493T= (p.Ser165=)
c.229T= (p.Ser77=)
n.505T= (p.Ser169=)
n.493T= (p.Ser165=)
14g.73186878C>ACA390296070PSEN1c.506C>A (p.Ser169Ter)
c.494C>A (p.Ser165Ter)
c.230C>A (p.Ser77Ter)
n.506C>A (p.Ser169Ter)
n.494C>A (p.Ser165Ter)
14g.73186878C=CA2146470740PSEN1c.506C= (p.Ser169=)
c.494C= (p.Ser165=)
c.230C= (p.Ser77=)
n.506C= (p.Ser169=)
n.494C= (p.Ser165=)
14g.73186878C>GCA390296072PSEN1c.506C>G (p.Ser169Ter)
c.494C>G (p.Ser165Ter)
c.230C>G (p.Ser77Ter)
n.506C>G (p.Ser169Ter)
n.494C>G (p.Ser165Ter)
14g.73186878C>TCA225045PSEN1c.506C>T (p.Ser169Leu)
c.494C>T (p.Ser165Leu)
c.230C>T (p.Ser77Leu)
n.506C>T (p.Ser169Leu)
n.494C>T (p.Ser165Leu)
ClinVar dbSNP
14g.73186879A>CCA487094334PSEN1c.507A>C (p.Ser169=)
c.495A>C (p.Ser165=)
c.231A>C (p.Ser77=)
n.507A>C (p.Ser169=)
n.495A>C (p.Ser165=)
14g.73186879A>GCA487094335PSEN1c.507A>G (p.Ser169=)
c.495A>G (p.Ser165=)
c.231A>G (p.Ser77=)
n.507A>G (p.Ser169=)
n.495A>G (p.Ser165=)
14g.73186879A>TCA487094336PSEN1c.507A>T (p.Ser169=)
c.495A>T (p.Ser165=)
c.231A>T (p.Ser77=)
n.507A>T (p.Ser169=)
n.495A>T (p.Ser165=)
14g.73186880T>ACA390296078PSEN1c.508T>A (p.Ser170Thr)
c.496T>A (p.Ser166Thr)
c.232T>A (p.Ser78Thr)
n.508T>A (p.Ser170Thr)
n.496T>A (p.Ser166Thr)
14g.73186880T>CCA390296085PSEN1c.508T>C (p.Ser170Pro)
c.496T>C (p.Ser166Pro)
c.232T>C (p.Ser78Pro)
n.508T>C (p.Ser170Pro)
n.496T>C (p.Ser166Pro)
14g.73186880T>GCA390296089PSEN1c.508T>G (p.Ser170Ala)
c.496T>G (p.Ser166Ala)
c.232T>G (p.Ser78Ala)
n.508T>G (p.Ser170Ala)
n.496T>G (p.Ser166Ala)
14g.73186881C>ACA390296095PSEN1c.509C>A (p.Ser170Tyr)
c.497C>A (p.Ser166Tyr)
c.233C>A (p.Ser78Tyr)
n.509C>A (p.Ser170Tyr)
n.497C>A (p.Ser166Tyr)
ClinVar
14g.73186881C=CA2146470748PSEN1c.509C= (p.Ser170=)
c.497C= (p.Ser166=)
c.233C= (p.Ser78=)
n.509C= (p.Ser170=)
n.497C= (p.Ser166=)
14g.73186881C>GCA390296100PSEN1c.509C>G (p.Ser170Cys)
c.497C>G (p.Ser166Cys)
c.233C>G (p.Ser78Cys)
n.509C>G (p.Ser170Cys)
n.497C>G (p.Ser166Cys)
14g.73186881C>TCA225046PSEN1c.509C>T (p.Ser170Phe)
c.497C>T (p.Ser166Phe)
c.233C>T (p.Ser78Phe)
n.509C>T (p.Ser170Phe)
n.497C>T (p.Ser166Phe)
ClinVar dbSNP
14g.73186882T>ACA487094337PSEN1c.510T>A (p.Ser170=)
c.498T>A (p.Ser166=)
c.234T>A (p.Ser78=)
n.510T>A (p.Ser170=)
n.498T>A (p.Ser166=)
14g.73186882T>CCA262604783PSEN1c.510T>C (p.Ser170=)
c.498T>C (p.Ser166=)
c.234T>C (p.Ser78=)
n.510T>C (p.Ser170=)
n.498T>C (p.Ser166=)
dbSNP
14g.73186882T>GCA487094338PSEN1c.510T>G (p.Ser170=)
c.498T>G (p.Ser166=)
c.234T>G (p.Ser78=)
n.510T>G (p.Ser170=)
n.498T>G (p.Ser166=)
14g.73186882T=CA2146470755PSEN1c.510T= (p.Ser170=)
c.498T= (p.Ser166=)
c.234T= (p.Ser78=)
n.510T= (p.Ser170=)
n.498T= (p.Ser166=)
14g.73186882_73186883insTATCA913191117PSEN1c.510_511insTAT (p.Ser170_Leu171insTyr)
c.498_499insTAT (p.Ser166_Leu167insTyr)
c.234_235insTAT (p.Ser78_Leu79insTyr)
n.510_511insTAT (p.Ser170_Leu171insTyr)
n.498_499insTAT (p.Ser166_Leu167insTyr)
ClinVar dbSNP
14g.73186883C>ACA390296104PSEN1c.511C>A (p.Leu171Ile)
c.499C>A (p.Leu167Ile)
c.235C>A (p.Leu79Ile)
n.511C>A (p.Leu171Ile)
n.499C>A (p.Leu167Ile)
14g.73186883C>GCA390296106PSEN1c.511C>G (p.Leu171Val)
c.499C>G (p.Leu167Val)
c.235C>G (p.Leu79Val)
n.511C>G (p.Leu171Val)
n.499C>G (p.Leu167Val)
14g.73186883C>TCA487094339PSEN1c.511C>T (p.Leu171=)
c.499C>T (p.Leu167=)
c.235C>T (p.Leu79=)
n.511C>T (p.Leu171=)
n.499C>T (p.Leu167=)
14g.73186884T>ACA390296110PSEN1c.512T>A (p.Leu171Gln)
c.500T>A (p.Leu167Gln)
c.236T>A (p.Leu79Gln)
n.512T>A (p.Leu171Gln)
n.500T>A (p.Leu167Gln)
14g.73186884T>CCA225048PSEN1c.512T>C (p.Leu171Pro)
c.500T>C (p.Leu167Pro)
c.236T>C (p.Leu79Pro)
n.512T>C (p.Leu171Pro)
n.500T>C (p.Leu167Pro)
ClinVar dbSNP
14g.73186884T>GCA390296116PSEN1c.512T>G (p.Leu171Arg)
c.500T>G (p.Leu167Arg)
c.236T>G (p.Leu79Arg)
n.512T>G (p.Leu171Arg)
n.500T>G (p.Leu167Arg)
14g.73186884T=CA2146470762PSEN1c.512T= (p.Leu171=)
c.500T= (p.Leu167=)
c.236T= (p.Leu79=)
n.512T= (p.Leu171=)
n.500T= (p.Leu167=)
14g.73186885A=CA2146470766PSEN1c.513A= (p.Leu171=)
c.501A= (p.Leu167=)
c.237A= (p.Leu79=)
n.513A= (p.Leu171=)
n.501A= (p.Leu167=)
14g.73186885A>CCA487094341PSEN1c.513A>C (p.Leu171=)
c.501A>C (p.Leu167=)
c.237A>C (p.Leu79=)
n.513A>C (p.Leu171=)
n.501A>C (p.Leu167=)
14g.73186885A>GCA7256761PSEN1c.513A>G (p.Leu171=)
c.501A>G (p.Leu167=)
c.237A>G (p.Leu79=)
n.513A>G (p.Leu171=)
n.501A>G (p.Leu167=)
dbSNP ExAC gnomAD
14g.73186885A>TCA487094342PSEN1c.513A>T (p.Leu171=)
c.501A>T (p.Leu167=)
c.237A>T (p.Leu79=)
n.513A>T (p.Leu171=)
n.501A>T (p.Leu167=)
14g.73186885_73186888delinsATTGCA2146470768PSEN1c.513_516delinsATTG (p.Leu171=)
c.501_504delinsATTG (p.Leu167=)
c.237_240delinsATTG (p.Leu79=)
n.513_516delinsATTG (p.Leu171=)
n.501_504delinsATTG (p.Leu167=)
14g.73186886T>ACA390296153PSEN1c.514T>A (p.Leu172Met)
c.502T>A (p.Leu168Met)
c.238T>A (p.Leu80Met)
n.514T>A (p.Leu172Met)
n.502T>A (p.Leu168Met)
14g.73186886T>CCA487094343PSEN1c.514T>C (p.Leu172=)
c.502T>C (p.Leu168=)
c.238T>C (p.Leu80=)
n.514T>C (p.Leu172=)
n.502T>C (p.Leu168=)
14g.73186886T>GCA390296158PSEN1c.514T>G (p.Leu172Val)
c.502T>G (p.Leu168Val)
c.238T>G (p.Leu80Val)
n.514T>G (p.Leu172Val)
n.502T>G (p.Leu168Val)
14g.73186886T=CA2146470771PSEN1c.514T= (p.Leu172=)
c.502T= (p.Leu168=)
c.238T= (p.Leu80=)
n.514T= (p.Leu172=)
n.502T= (p.Leu168=)
14g.73186889_73186891delCA915948844PSEN1c.517_519del (p.Leu173del)
c.505_507del (p.Leu169del)
c.241_243del (p.Leu81del)
n.517_519del (p.Leu173del)
n.505_507del (p.Leu169del)
ClinVar dbSNP
14g.73186887T>ACA390296164PSEN1c.515T>A (p.Leu172Ter)
c.503T>A (p.Leu168Ter)
c.239T>A (p.Leu80Ter)
n.515T>A (p.Leu172Ter)
n.503T>A (p.Leu168Ter)
14g.73186887T>CCA390296165PSEN1c.515T>C (p.Leu172Ser)
c.503T>C (p.Leu168Ser)
c.239T>C (p.Leu80Ser)
n.515T>C (p.Leu172Ser)
n.503T>C (p.Leu168Ser)
14g.73186887T>GCA390296169PSEN1c.515T>G (p.Leu172Trp)
c.503T>G (p.Leu168Trp)
c.239T>G (p.Leu80Trp)
n.515T>G (p.Leu172Trp)
n.503T>G (p.Leu168Trp)
14g.73186888G>ACA487094344PSEN1c.516G>A (p.Leu172=)
c.504G>A (p.Leu168=)
c.240G>A (p.Leu80=)
n.516G>A (p.Leu172=)
n.504G>A (p.Leu168=)
14g.73186888G>CCA390296176PSEN1c.516G>C (p.Leu172Phe)
c.504G>C (p.Leu168Phe)
c.240G>C (p.Leu80Phe)
n.516G>C (p.Leu172Phe)
n.504G>C (p.Leu168Phe)
14g.73186888G=CA2146470776PSEN1c.516G= (p.Leu172=)
c.504G= (p.Leu168=)
c.240G= (p.Leu80=)
n.516G= (p.Leu172=)
n.504G= (p.Leu168=)
14g.73186888G>TCA390296179PSEN1c.516G>T (p.Leu172Phe)
c.504G>T (p.Leu168Phe)
c.240G>T (p.Leu80Phe)
n.516G>T (p.Leu172Phe)
n.504G>T (p.Leu168Phe)
14g.73186889T>ACA390296186PSEN1c.517T>A (p.Leu173Met)
c.505T>A (p.Leu169Met)
c.241T>A (p.Leu81Met)
n.517T>A (p.Leu173Met)
n.505T>A (p.Leu169Met)
14g.73186889T>CCA487094345PSEN1c.517T>C (p.Leu173=)
c.505T>C (p.Leu169=)
c.241T>C (p.Leu81=)
n.517T>C (p.Leu173=)
n.505T>C (p.Leu169=)
14g.73186889T>GCA390296192PSEN1c.517T>G (p.Leu173Val)
c.505T>G (p.Leu169Val)
c.241T>G (p.Leu81Val)
n.517T>G (p.Leu173Val)
n.505T>G (p.Leu169Val)

Number of alleles fetched