| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.44907792_44907803dup | CA9505971 | APOE | c.76_87dup (p.Glu29_Pro30insThrGluProGlu) c.154_165dup (p.Glu55_Pro56insThrGluProGlu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44907794A>C | CA507798966 | APOE | c.78A>C (p.Thr26=) c.156A>C (p.Thr52=) | |
| 19 | g.44907794A>G | CA507798965 | APOE | c.78A>G (p.Thr26=) c.156A>G (p.Thr52=) | |
| 19 | g.44907794A>T | CA507798964 | APOE | c.78A>T (p.Thr26=) c.156A>T (p.Thr52=) | |
| 19 | g.44907796_44907797del | CA2585715222 | APOE | c.80_81del (p.Glu27AlafsTer?) c.158_159del (p.Glu53AlafsTer?) | gnomAD v4 |
| 19 | g.44907795G>A | CA406302441 | APOE | c.79G>A (p.Glu27Lys) c.157G>A (p.Glu53Lys) | |
| 19 | g.44907795G>C | CA406302439 | APOE | c.79G>C (p.Glu27Gln) c.157G>C (p.Glu53Gln) | |
| 19 | g.44907795G>T | CA406302440 | APOE | c.79G>T (p.Glu27Ter) c.157G>T (p.Glu53Ter) | |
| 19 | g.44907796A>C | CA406302442 | APOE | c.80A>C (p.Glu27Ala) c.158A>C (p.Glu53Ala) | |
| 19 | g.44907796A>G | CA406302443 | APOE | c.80A>G (p.Glu27Gly) c.158A>G (p.Glu53Gly) | |
| 19 | g.44907796A>T | CA406302444 | APOE | c.80A>T (p.Glu27Val) c.158A>T (p.Glu53Val) | |
| 19 | g.44907797G>A | CA507798970 | APOE | c.81G>A (p.Glu27=) c.159G>A (p.Glu53=) | |
| 19 | g.44907797G>C | CA406302445 | APOE | c.81G>C (p.Glu27Asp) c.159G>C (p.Glu53Asp) | |
| 19 | g.44907797G>T | CA406302446 | APOE | c.81G>T (p.Glu27Asp) c.159G>T (p.Glu53Asp) | |
| 19 | g.44907798C>A | CA406302449 | APOE | c.82C>A (p.Pro28Thr) c.160C>A (p.Pro54Thr) | |
| 19 | g.44907798C= | CA2338167331 | APOE | c.82C= (p.Pro28=) c.160C= (p.Pro54=) | |
| 19 | g.44907798C>G | CA406302447 | APOE | c.82C>G (p.Pro28Ala) c.160C>G (p.Pro54Ala) | |
| 19 | g.44907798C>T | CA406302448 | APOE | c.82C>T (p.Pro28Ser) c.160C>T (p.Pro54Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44907799C>A | CA406302450 | APOE | c.83C>A (p.Pro28Gln) c.161C>A (p.Pro54Gln) | |
| 19 | g.44907799C= | CA2338167332 | APOE | c.83C= (p.Pro28=) c.161C= (p.Pro54=) | |
| 19 | g.44907799C>G | CA406302451 | APOE | c.83C>G (p.Pro28Arg) c.161C>G (p.Pro54Arg) | gnomAD v4 |
| 19 | g.44907799C>T | CA9505972 | APOE | c.83C>T (p.Pro28Leu) c.161C>T (p.Pro54Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.44907800G>A | CA9505973 | APOE | c.84G>A (p.Pro28=) c.162G>A (p.Pro54=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44907800G>C | CA507798974 | APOE | c.84G>C (p.Pro28=) c.162G>C (p.Pro54=) | |
| 19 | g.44907800G= | CA2338167333 | APOE | c.84G= (p.Pro28=) c.162G= (p.Pro54=) | |
| 19 | g.44907800G>T | CA507798975 | APOE | c.84G>T (p.Pro28=) c.162G>T (p.Pro54=) | |
| 19 | g.44907801G>A | CA406302452 | APOE | c.85G>A (p.Glu29Lys) c.163G>A (p.Glu55Lys) | |
| 19 | g.44907801G>C | CA406302453 | APOE | c.85G>C (p.Glu29Gln) c.163G>C (p.Glu55Gln) | |
| 19 | g.44907801G>T | CA406302454 | APOE | c.85G>T (p.Glu29Ter) c.163G>T (p.Glu55Ter) | |
| 19 | g.44907802A>C | CA406302455 | APOE | c.86A>C (p.Glu29Ala) c.164A>C (p.Glu55Ala) | |
| 19 | g.44907802A>G | CA406302456 | APOE | c.86A>G (p.Glu29Gly) c.164A>G (p.Glu55Gly) | gnomAD v4 |
| 19 | g.44907802A>T | CA406302457 | APOE | c.86A>T (p.Glu29Val) c.164A>T (p.Glu55Val) | |
| 19 | g.44907803G>A | CA507798979 | APOE | c.87G>A (p.Glu29=) c.165G>A (p.Glu55=) | gnomAD v4 |
| 19 | g.44907803G>C | CA406302458 | APOE | c.87G>C (p.Glu29Asp) c.165G>C (p.Glu55Asp) | gnomAD v4 |
| 19 | g.44907803G>T | CA406302459 | APOE | c.87G>T (p.Glu29Asp) c.165G>T (p.Glu55Asp) | gnomAD v4 |
| 19 | g.44907804C>A | CA406302460 | APOE | c.88C>A (p.Pro30Thr) c.166C>A (p.Pro56Thr) | gnomAD v4 |
| 19 | g.44907804C>G | CA406302462 | APOE | c.88C>G (p.Pro30Ala) c.166C>G (p.Pro56Ala) | |
| 19 | g.44907804C>T | CA406302461 | APOE | c.88C>T (p.Pro30Ser) c.166C>T (p.Pro56Ser) | |
| 19 | g.44907805C>A | CA406302463 | APOE | c.89C>A (p.Pro30His) c.167C>A (p.Pro56His) | |
| 19 | g.44907805C>G | CA406302465 | APOE | c.89C>G (p.Pro30Arg) c.167C>G (p.Pro56Arg) | |
| 19 | g.44907805C>T | CA406302464 | APOE | c.89C>T (p.Pro30Leu) c.167C>T (p.Pro56Leu) | |
| 19 | g.44907806C>A | CA507798983 | APOE | c.90C>A (p.Pro30=) c.168C>A (p.Pro56=) | gnomAD v4 |
| 19 | g.44907806C= | CA2338167334 | APOE | c.90C= (p.Pro30=) c.168C= (p.Pro56=) | |
| 19 | g.44907806C>G | CA9505974 | APOE | c.90C>G (p.Pro30=) c.168C>G (p.Pro56=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44907806C>T | CA507798984 | APOE | c.90C>T (p.Pro30=) c.168C>T (p.Pro56=) | dbSNP gnomAD v4 |
| 19 | g.44907807G>A | CA041327 | APOE | c.91G>A (p.Glu31Lys) c.169G>A (p.Glu57Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.[44907807G>A;44908783C>T] | CA041334 | APOE | c.[91G>A;487C>T] (p.[Glu31Lys;Arg163Cys]) c.[169G>A;565C>T] (p.[Glu57Lys;Arg189Cys]) | ClinVar |
| 19 | g.44907807G>C | CA406302466 | APOE | c.91G>C (p.Glu31Gln) c.169G>C (p.Glu57Gln) | |
| 19 | g.44907807G= | CA2338167335 | APOE | c.91G= (p.Glu31=) c.169G= (p.Glu57=) | |
| 19 | g.44907807G>T | CA406302467 | APOE | c.91G>T (p.Glu31Ter) c.169G>T (p.Glu57Ter) |