Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.44908694T>A | CA406303948 | APOE | c.398T>A (p.Leu133Gln) c.476T>A (p.Leu159Gln) | |
19 | g.44908694T>C | CA406303947 | APOE | c.398T>C (p.Leu133Pro) c.476T>C (p.Leu159Pro) | |
19 | g.44908694T>G | CA406303946 | APOE | c.398T>G (p.Leu133Arg) c.476T>G (p.Leu159Arg) | gnomAD v4 |
19 | g.44908695G>A | CA507947555 | APOE | c.399G>A (p.Leu133=) c.477G>A (p.Leu159=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44908695G>C | CA507947556 | APOE | c.399G>C (p.Leu133=) c.477G>C (p.Leu159=) | |
19 | g.44908695G= | CA2338167553 | APOE | c.399G= (p.Leu133=) c.477G= (p.Leu159=) | |
19 | g.44908695G>T | CA507947557 | APOE | c.399G>T (p.Leu133=) c.477G>T (p.Leu159=) | |
19 | g.44908696G>A | CA406303949 | APOE | c.400G>A (p.Val134Met) c.478G>A (p.Val160Met) | |
19 | g.44908696G>C | CA406303950 | APOE | c.400G>C (p.Val134Leu) c.478G>C (p.Val160Leu) | |
19 | g.44908696G>T | CA406303951 | APOE | c.400G>T (p.Val134Leu) c.478G>T (p.Val160Leu) | |
19 | g.44908697T>A | CA406303952 | APOE | c.401T>A (p.Val134Glu) c.479T>A (p.Val160Glu) | |
19 | g.44908697T>C | CA406303953 | APOE | c.401T>C (p.Val134Ala) c.479T>C (p.Val160Ala) | |
19 | g.44908697T>G | CA406303954 | APOE | c.401T>G (p.Val134Gly) c.479T>G (p.Val160Gly) | |
19 | g.44908698G>A | CA507947560 | APOE | c.402G>A (p.Val134=) c.480G>A (p.Val160=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44908698G>C | CA507947561 | APOE | c.402G>C (p.Val134=) c.480G>C (p.Val160=) | |
19 | g.44908698G= | CA2338167555 | APOE | c.402G= (p.Val134=) c.480G= (p.Val160=) | |
19 | g.44908698G>T | CA507947562 | APOE | c.402G>T (p.Val134=) c.480G>T (p.Val160=) | gnomAD v4 |
19 | g.44908699C>A | CA406303955 | APOE | c.403C>A (p.Gln135Lys) c.481C>A (p.Gln161Lys) | gnomAD v4 |
19 | g.44908699C>G | CA406303956 | APOE | c.403C>G (p.Gln135Glu) c.481C>G (p.Gln161Glu) | |
19 | g.44908699C>T | CA406303957 | APOE | c.403C>T (p.Gln135Ter) c.481C>T (p.Gln161Ter) | gnomAD v4 |
19 | g.44908700A= | CA2338167559 | APOE | c.404A= (p.Gln135=) c.482A= (p.Gln161=) | |
19 | g.44908700A>C | CA406303958 | APOE | c.404A>C (p.Gln135Pro) c.482A>C (p.Gln161Pro) | |
19 | g.44908700A>G | CA9506056 | APOE | c.404A>G (p.Gln135Arg) c.482A>G (p.Gln161Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44908700A>T | CA406303959 | APOE | c.404A>T (p.Gln135Leu) c.482A>T (p.Gln161Leu) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.44908703_44908704insGAGTA | CA2695228861 | APOE | c.407_408insGAGTA (p.Tyr136Ter) c.485_486insGAGTA (p.Tyr162Ter) | |
19 | g.44908701G>A | CA9506057 | APOE | c.405G>A (p.Gln135=) c.483G>A (p.Gln161=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44908701G>C | CA406303960 | APOE | c.405G>C (p.Gln135His) c.483G>C (p.Gln161His) | |
19 | g.44908701G= | CA2338167562 | APOE | c.405G= (p.Gln135=) c.483G= (p.Gln161=) | |
19 | g.44908701G>T | CA406303961 | APOE | c.405G>T (p.Gln135His) c.483G>T (p.Gln161His) | |
19 | g.44908702T>A | CA406303962 | APOE | c.406T>A (p.Tyr136Asn) c.484T>A (p.Tyr162Asn) | |
19 | g.44908702T>C | CA406303963 | APOE | c.406T>C (p.Tyr136His) c.484T>C (p.Tyr162His) | dbSNP gnomAD v4 |
19 | g.44908702T>G | CA406303964 | APOE | c.406T>G (p.Tyr136Asp) c.484T>G (p.Tyr162Asp) | |
19 | g.44908702T= | CA2338167565 | APOE | c.406T= (p.Tyr136=) c.484T= (p.Tyr162=) | |
19 | g.44908703A= | CA2338167567 | APOE | c.407A= (p.Tyr136=) c.485A= (p.Tyr162=) | |
19 | g.44908703A>C | CA406303965 | APOE | c.407A>C (p.Tyr136Ser) c.485A>C (p.Tyr162Ser) | |
19 | g.44908703A>G | CA406303966 | APOE | c.407A>G (p.Tyr136Cys) c.485A>G (p.Tyr162Cys) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44908703A>T | CA406303967 | APOE | c.407A>T (p.Tyr136Phe) c.485A>T (p.Tyr162Phe) | |
19 | g.44908704C>A | CA406303968 | APOE | c.408C>A (p.Tyr136Ter) c.486C>A (p.Tyr162Ter) | |
19 | g.44908704C>G | CA406303969 | APOE | c.408C>G (p.Tyr136Ter) c.486C>G (p.Tyr162Ter) | |
19 | g.44908704C>T | CA507947572 | APOE | c.408C>T (p.Tyr136=) c.486C>T (p.Tyr162=) | dbSNP gnomAD v4 |
19 | g.44908705C>A | CA406303970 | APOE | c.409C>A (p.Arg137Ser) c.487C>A (p.Arg163Ser) | |
19 | g.44908705C= | CA2338167569 | APOE | c.409C= (p.Arg137=) c.487C= (p.Arg163=) | |
19 | g.44908705C>G | CA406303971 | APOE | c.409C>G (p.Arg137Gly) c.487C>G (p.Arg163Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44908705C>T | CA9506058 | APOE | c.409C>T (p.Arg137Cys) c.487C>T (p.Arg163Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44908705_44908706insATTCGACGTCACA | CA2695228862 | APOE | c.409_410insATTCGACGTCACA (p.Arg137HisfsTer32) c.487_488insATTCGACGTCACA (p.Arg163HisfsTer32) | |
19 | g.44908706G>A | CA308885519 | APOE | c.410G>A (p.Arg137His) c.488G>A (p.Arg163His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.44908706G>C | CA406303973 | APOE | c.410G>C (p.Arg137Pro) c.488G>C (p.Arg163Pro) | |
19 | g.44908706G= | CA2338167572 | APOE | c.410G= (p.Arg137=) c.488G= (p.Arg163=) | |
19 | g.44908706G>T | CA406303972 | APOE | c.410G>T (p.Arg137Leu) c.488G>T (p.Arg163Leu) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.44908707C>A | CA507947579 | APOE | c.411C>A (p.Arg137=) c.489C>A (p.Arg163=) | gnomAD v4 |