Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.73173571A=CA2146470949PSEN1c.344A= (p.Tyr115=)
c.332A= (p.Tyr111=)
c.68A= (p.Tyr23=)
n.344A= (p.Tyr115=)
n.332A= (p.Tyr111=)
c.*288A= (n.*288A=)
14g.73173571A>CCA390304656PSEN1c.344A>C (p.Tyr115Ser)
c.332A>C (p.Tyr111Ser)
c.68A>C (p.Tyr23Ser)
n.344A>C (p.Tyr115Ser)
n.332A>C (p.Tyr111Ser)
c.*288A>C (n.*288A>C)
14g.73173571A>GCA225002PSEN1c.344A>G (p.Tyr115Cys)
c.332A>G (p.Tyr111Cys)
c.68A>G (p.Tyr23Cys)
n.344A>G (p.Tyr115Cys)
n.332A>G (p.Tyr111Cys)
c.*288A>G (n.*288A>G)
ClinVar dbSNP
14g.73173571A>TCA390304660PSEN1c.344A>T (p.Tyr115Phe)
c.332A>T (p.Tyr111Phe)
c.68A>T (p.Tyr23Phe)
n.344A>T (p.Tyr115Phe)
n.332A>T (p.Tyr111Phe)
c.*288A>T (n.*288A>T)
14g.73173572T>ACA390304666PSEN1c.345T>A (p.Tyr115Ter)
c.333T>A (p.Tyr111Ter)
c.69T>A (p.Tyr23Ter)
n.345T>A (p.Tyr115Ter)
n.333T>A (p.Tyr111Ter)
c.*289T>A (n.*289T>A)
14g.73173572T>CCA262615156PSEN1c.345T>C (p.Tyr115=)
c.333T>C (p.Tyr111=)
c.69T>C (p.Tyr23=)
n.345T>C (p.Tyr115=)
n.333T>C (p.Tyr111=)
c.*289T>C (n.*289T>C)
dbSNP gnomAD
14g.73173572T>GCA390304668PSEN1c.345T>G (p.Tyr115Ter)
c.333T>G (p.Tyr111Ter)
c.69T>G (p.Tyr23Ter)
n.345T>G (p.Tyr115Ter)
n.333T>G (p.Tyr111Ter)
c.*289T>G (n.*289T>G)
14g.73173572T=CA2146470956PSEN1c.345T= (p.Tyr115=)
c.333T= (p.Tyr111=)
c.69T= (p.Tyr23=)
n.345T= (p.Tyr115=)
n.333T= (p.Tyr111=)
c.*289T= (n.*289T=)
14g.73173573A>CCA390304671PSEN1c.346A>C (p.Thr116Pro)
c.334A>C (p.Thr112Pro)
c.70A>C (p.Thr24Pro)
n.346A>C (p.Thr116Pro)
n.334A>C (p.Thr112Pro)
c.*290A>C (n.*290A>C)
14g.73173573A>GCA390304672PSEN1c.346A>G (p.Thr116Ala)
c.334A>G (p.Thr112Ala)
c.70A>G (p.Thr24Ala)
n.346A>G (p.Thr116Ala)
n.334A>G (p.Thr112Ala)
c.*290A>G (n.*290A>G)
14g.73173573A>TCA390304673PSEN1c.346A>T (p.Thr116Ser)
c.334A>T (p.Thr112Ser)
c.70A>T (p.Thr24Ser)
n.346A>T (p.Thr116Ser)
n.334A>T (p.Thr112Ser)
c.*290A>T (n.*290A>T)
14g.73173574C>ACA390304675PSEN1c.347C>A (p.Thr116Asn)
c.335C>A (p.Thr112Asn)
c.71C>A (p.Thr24Asn)
n.347C>A (p.Thr116Asn)
n.335C>A (p.Thr112Asn)
c.*291C>A (n.*291C>A)
ClinVar
14g.73173574C=CA2146470965PSEN1c.347C= (p.Thr116=)
c.335C= (p.Thr112=)
c.71C= (p.Thr24=)
n.347C= (p.Thr116=)
n.335C= (p.Thr112=)
c.*291C= (n.*291C=)
14g.73173574C>GCA390304677PSEN1c.347C>G (p.Thr116Ser)
c.335C>G (p.Thr112Ser)
c.71C>G (p.Thr24Ser)
n.347C>G (p.Thr116Ser)
n.335C>G (p.Thr112Ser)
c.*291C>G (n.*291C>G)
14g.73173574C>TCA225003PSEN1c.347C>T (p.Thr116Ile)
c.335C>T (p.Thr112Ile)
c.71C>T (p.Thr24Ile)
n.347C>T (p.Thr116Ile)
n.335C>T (p.Thr112Ile)
c.*291C>T (n.*291C>T)
ClinVar dbSNP
14g.73173575C>ACA487097956PSEN1c.348C>A (p.Thr116=)
c.336C>A (p.Thr112=)
c.72C>A (p.Thr24=)
n.348C>A (p.Thr116=)
n.336C>A (p.Thr112=)
c.*292C>A (n.*292C>A)
14g.73173575C>GCA487097957PSEN1c.348C>G (p.Thr116=)
c.336C>G (p.Thr112=)
c.72C>G (p.Thr24=)
n.348C>G (p.Thr116=)
n.336C>G (p.Thr112=)
c.*292C>G (n.*292C>G)
14g.73173575C>TCA487097958PSEN1c.348C>T (p.Thr116=)
c.336C>T (p.Thr112=)
c.72C>T (p.Thr24=)
n.348C>T (p.Thr116=)
n.336C>T (p.Thr112=)
c.*292C>T (n.*292C>T)
14g.73173576C>ACA390304679PSEN1c.349C>A (p.Pro117Thr)
c.337C>A (p.Pro113Thr)
c.73C>A (p.Pro25Thr)
n.349C>A (p.Pro117Thr)
n.337C>A (p.Pro113Thr)
c.*293C>A (n.*293C>A)
14g.73173576C=CA2146470971PSEN1c.349C= (p.Pro117=)
c.337C= (p.Pro113=)
c.73C= (p.Pro25=)
n.349C= (p.Pro117=)
n.337C= (p.Pro113=)
c.*293C= (n.*293C=)
14g.73173576C>GCA390304680PSEN1c.349C>G (p.Pro117Ala)
c.337C>G (p.Pro113Ala)
c.73C>G (p.Pro25Ala)
n.349C>G (p.Pro117Ala)
n.337C>G (p.Pro113Ala)
c.*293C>G (n.*293C>G)
14g.73173576C>TCA225005PSEN1c.349C>T (p.Pro117Ser)
c.337C>T (p.Pro113Ser)
c.73C>T (p.Pro25Ser)
n.349C>T (p.Pro117Ser)
n.337C>T (p.Pro113Ser)
c.*293C>T (n.*293C>T)
ClinVar dbSNP
14g.73173577C>ACA390304683PSEN1c.350C>A (p.Pro117Gln)
c.338C>A (p.Pro113Gln)
c.74C>A (p.Pro25Gln)
n.350C>A (p.Pro117Gln)
n.338C>A (p.Pro113Gln)
c.*294C>A (n.*294C>A)
14g.73173577C=CA2146470976PSEN1c.350C= (p.Pro117=)
c.338C= (p.Pro113=)
c.74C= (p.Pro25=)
n.350C= (p.Pro117=)
n.338C= (p.Pro113=)
c.*294C= (n.*294C=)
14g.73173577C>GCA390304684PSEN1c.350C>G (p.Pro117Arg)
c.338C>G (p.Pro113Arg)
c.74C>G (p.Pro25Arg)
n.350C>G (p.Pro117Arg)
n.338C>G (p.Pro113Arg)
c.*294C>G (n.*294C>G)
14g.73173577C>TCA225007PSEN1c.350C>T (p.Pro117Leu)
c.338C>T (p.Pro113Leu)
c.74C>T (p.Pro25Leu)
n.350C>T (p.Pro117Leu)
n.338C>T (p.Pro113Leu)
c.*294C>T (n.*294C>T)
ClinVar dbSNP
14g.73173578A=CA2146470981PSEN1c.351A= (p.Pro117=)
c.339A= (p.Pro113=)
c.75A= (p.Pro25=)
n.351A= (p.Pro117=)
n.339A= (p.Pro113=)
c.*295A= (n.*295A=)
14g.73173578A>CCA487097961PSEN1c.351A>C (p.Pro117=)
c.339A>C (p.Pro113=)
c.75A>C (p.Pro25=)
n.351A>C (p.Pro117=)
n.339A>C (p.Pro113=)
c.*295A>C (n.*295A>C)
14g.73173578A>GCA487097962PSEN1c.351A>G (p.Pro117=)
c.339A>G (p.Pro113=)
c.75A>G (p.Pro25=)
n.351A>G (p.Pro117=)
n.339A>G (p.Pro113=)
c.*295A>G (n.*295A>G)
14g.73173578A>TCA262615164PSEN1c.351A>T (p.Pro117=)
c.339A>T (p.Pro113=)
c.75A>T (p.Pro25=)
n.351A>T (p.Pro117=)
n.339A>T (p.Pro113=)
c.*295A>T (n.*295A>T)
dbSNP
14g.73173579T>ACA390304690PSEN1c.352T>A (p.Phe118Ile)
c.340T>A (p.Phe114Ile)
c.76T>A (p.Phe26Ile)
n.352T>A (p.Phe118Ile)
n.340T>A (p.Phe114Ile)
c.*296T>A (n.*296T>A)
14g.73173579T>CCA390304687PSEN1c.352T>C (p.Phe118Leu)
c.340T>C (p.Phe114Leu)
c.76T>C (p.Phe26Leu)
n.352T>C (p.Phe118Leu)
n.340T>C (p.Phe114Leu)
c.*296T>C (n.*296T>C)
14g.73173579T>GCA390304689PSEN1c.352T>G (p.Phe118Val)
c.340T>G (p.Phe114Val)
c.76T>G (p.Phe26Val)
n.352T>G (p.Phe118Val)
n.340T>G (p.Phe114Val)
c.*296T>G (n.*296T>G)
14g.73173580T>ACA390304692PSEN1c.353T>A (p.Phe118Tyr)
c.341T>A (p.Phe114Tyr)
c.77T>A (p.Phe26Tyr)
n.353T>A (p.Phe118Tyr)
n.341T>A (p.Phe114Tyr)
c.*297T>A (n.*297T>A)
14g.73173580T>CCA390304694PSEN1c.353T>C (p.Phe118Ser)
c.341T>C (p.Phe114Ser)
c.77T>C (p.Phe26Ser)
n.353T>C (p.Phe118Ser)
n.341T>C (p.Phe114Ser)
c.*297T>C (n.*297T>C)
14g.73173580T>GCA390304696PSEN1c.353T>G (p.Phe118Cys)
c.341T>G (p.Phe114Cys)
c.77T>G (p.Phe26Cys)
n.353T>G (p.Phe118Cys)
n.341T>G (p.Phe114Cys)
c.*297T>G (n.*297T>G)
14g.73173581C>ACA390304698PSEN1c.354C>A (p.Phe118Leu)
c.342C>A (p.Phe114Leu)
c.78C>A (p.Phe26Leu)
n.354C>A (p.Phe118Leu)
n.342C>A (p.Phe114Leu)
c.*298C>A (n.*298C>A)
14g.73173581C=CA2146470986PSEN1c.354C= (p.Phe118=)
c.342C= (p.Phe114=)
c.78C= (p.Phe26=)
n.354C= (p.Phe118=)
n.342C= (p.Phe114=)
c.*298C= (n.*298C=)
14g.73173581C>GCA390304700PSEN1c.354C>G (p.Phe118Leu)
c.342C>G (p.Phe114Leu)
c.78C>G (p.Phe26Leu)
n.354C>G (p.Phe118Leu)
n.342C>G (p.Phe114Leu)
c.*298C>G (n.*298C>G)
14g.73173581C>TCA487097966PSEN1c.354C>T (p.Phe118=)
c.342C>T (p.Phe114=)
c.78C>T (p.Phe26=)
n.354C>T (p.Phe118=)
n.342C>T (p.Phe114=)
c.*298C>T (n.*298C>T)
14g.73173582A>CCA390304702PSEN1c.355A>C (p.Thr119Pro)
c.343A>C (p.Thr115Pro)
c.79A>C (p.Thr27Pro)
n.355A>C (p.Thr119Pro)
n.343A>C (p.Thr115Pro)
c.*299A>C (n.*299A>C)
14g.73173582A>GCA390304705PSEN1c.355A>G (p.Thr119Ala)
c.343A>G (p.Thr115Ala)
c.79A>G (p.Thr27Ala)
n.355A>G (p.Thr119Ala)
n.343A>G (p.Thr115Ala)
c.*299A>G (n.*299A>G)
14g.73173582A>TCA390304704PSEN1c.355A>T (p.Thr119Ser)
c.343A>T (p.Thr115Ser)
c.79A>T (p.Thr27Ser)
n.355A>T (p.Thr119Ser)
n.343A>T (p.Thr115Ser)
c.*299A>T (n.*299A>T)
14g.73173583C>ACA390304707PSEN1c.356C>A (p.Thr119Lys)
c.344C>A (p.Thr115Lys)
c.80C>A (p.Thr27Lys)
n.356C>A (p.Thr119Lys)
n.344C>A (p.Thr115Lys)
c.*300C>A (n.*300C>A)
14g.73173583C=CA2146470989PSEN1c.356C= (p.Thr119=)
c.344C= (p.Thr115=)
c.80C= (p.Thr27=)
n.356C= (p.Thr119=)
n.344C= (p.Thr115=)
c.*300C= (n.*300C=)
14g.73173583C>GCA390304709PSEN1c.356C>G (p.Thr119Arg)
c.344C>G (p.Thr115Arg)
c.80C>G (p.Thr27Arg)
n.356C>G (p.Thr119Arg)
n.344C>G (p.Thr115Arg)
c.*300C>G (n.*300C>G)
14g.73173583C>TCA390304710PSEN1c.356C>T (p.Thr119Ile)
c.344C>T (p.Thr115Ile)
c.80C>T (p.Thr27Ile)
n.356C>T (p.Thr119Ile)
n.344C>T (p.Thr115Ile)
c.*300C>T (n.*300C>T)
ClinVar
14g.73173584A=CA2146470993PSEN1c.357A= (p.Thr119=)
c.345A= (p.Thr115=)
c.81A= (p.Thr27=)
n.357A= (p.Thr119=)
n.345A= (p.Thr115=)
c.*301A= (n.*301A=)
14g.73173584A>CCA487097967PSEN1c.357A>C (p.Thr119=)
c.345A>C (p.Thr115=)
c.81A>C (p.Thr27=)
n.357A>C (p.Thr119=)
n.345A>C (p.Thr115=)
c.*301A>C (n.*301A>C)
14g.73173584A>GCA487097969PSEN1c.357A>G (p.Thr119=)
c.345A>G (p.Thr115=)
c.81A>G (p.Thr27=)
n.357A>G (p.Thr119=)
n.345A>G (p.Thr115=)
c.*301A>G (n.*301A>G)

Number of alleles fetched