| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.44908687_44908692del | CA2585715438 | APOE | c.391_396del (p.Gly131_Arg132del) c.469_474del (p.Gly157_Arg158del) | gnomAD v4 |
| 19 | g.44908686C>A | CA406303932 | APOE | c.390C>A (p.Cys130Ter) c.468C>A (p.Cys156Ter) | |
| 19 | g.44908686C>G | CA406303933 | APOE | c.390C>G (p.Cys130Trp) c.468C>G (p.Cys156Trp) | |
| 19 | g.44908686C>T | CA507947534 | APOE | c.390C>T (p.Cys130=) c.468C>T (p.Cys156=) | gnomAD v4 |
| 19 | g.44908687G>A | CA406303936 | APOE | c.391G>A (p.Gly131Ser) c.469G>A (p.Gly157Ser) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.44908687G>C | CA406303935 | APOE | c.391G>C (p.Gly131Arg) c.469G>C (p.Gly157Arg) | |
| 19 | g.44908687G= | CA2338167537 | APOE | c.391G= (p.Gly131=) c.469G= (p.Gly157=) | |
| 19 | g.44908687G>T | CA406303934 | APOE | c.391G>T (p.Gly131Cys) c.469G>T (p.Gly157Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908688G>A | CA406303937 | APOE | c.392G>A (p.Gly131Asp) c.470G>A (p.Gly157Asp) | dbSNP gnomAD v4 |
| 19 | g.44908688G>C | CA406303938 | APOE | c.392G>C (p.Gly131Ala) c.470G>C (p.Gly157Ala) | |
| 19 | g.44908688G= | CA2338167542 | APOE | c.392G= (p.Gly131=) c.470G= (p.Gly157=) | |
| 19 | g.44908688G>T | CA406303939 | APOE | c.392G>T (p.Gly131Val) c.470G>T (p.Gly157Val) | gnomAD v4 |
| 19 | g.44908689C>A | CA507947538 | APOE | c.393C>A (p.Gly131=) c.471C>A (p.Gly157=) | |
| 19 | g.44908689C>G | CA507947542 | APOE | c.393C>G (p.Gly131=) c.471C>G (p.Gly157=) | |
| 19 | g.44908689C>T | CA507947539 | APOE | c.393C>T (p.Gly131=) c.471C>T (p.Gly157=) | |
| 19 | g.44908690C>A | CA308885481 | APOE | c.394C>A (p.Arg132Ser) c.472C>A (p.Arg158Ser) | dbSNP |
| 19 | g.44908690C= | CA2338167546 | APOE | c.394C= (p.Arg132=) c.472C= (p.Arg158=) | |
| 19 | g.44908690C>G | CA406303940 | APOE | c.394C>G (p.Arg132Gly) c.472C>G (p.Arg158Gly) | |
| 19 | g.44908690C>T | CA9506055 | APOE | c.394C>T (p.Arg132Cys) c.472C>T (p.Arg158Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908691G>A | CA406303941 | APOE | c.395G>A (p.Arg132His) c.473G>A (p.Arg158His) | dbSNP gnomAD v4 |
| 19 | g.44908691G>C | CA406303942 | APOE | c.395G>C (p.Arg132Pro) c.473G>C (p.Arg158Pro) | |
| 19 | g.44908691G= | CA2338167548 | APOE | c.395G= (p.Arg132=) c.473G= (p.Arg158=) | |
| 19 | g.44908691G>T | CA406303943 | APOE | c.395G>T (p.Arg132Leu) c.473G>T (p.Arg158Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908692C>A | CA507947546 | APOE | c.396C>A (p.Arg132=) c.474C>A (p.Arg158=) | |
| 19 | g.44908692C>G | CA507947547 | APOE | c.396C>G (p.Arg132=) c.474C>G (p.Arg158=) | |
| 19 | g.44908692C>T | CA507947548 | APOE | c.396C>T (p.Arg132=) c.474C>T (p.Arg158=) | |
| 19 | g.44908693C>A | CA406303944 | APOE | c.397C>A (p.Leu133Met) c.475C>A (p.Leu159Met) | |
| 19 | g.44908693C= | CA2338167549 | APOE | c.397C= (p.Leu133=) c.475C= (p.Leu159=) | |
| 19 | g.44908693C>G | CA406303945 | APOE | c.397C>G (p.Leu133Val) c.475C>G (p.Leu159Val) | |
| 19 | g.44908693C>T | CA507947549 | APOE | c.397C>T (p.Leu133=) c.475C>T (p.Leu159=) | dbSNP gnomAD v4 |
| 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 |