Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.44907785G>A | CA9505970 | APOE | c.69G>A (p.Ala23=) c.147G>A (p.Ala49=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44907785G>C | CA507798951 | APOE | c.69G>C (p.Ala23=) c.147G>C (p.Ala49=) | |
19 | g.44907785G= | CA2338167325 | APOE | c.69G= (p.Ala23=) c.147G= (p.Ala49=) | |
19 | g.44907785G>T | CA507798950 | APOE | c.69G>T (p.Ala23=) c.147G>T (p.Ala49=) | |
19 | g.44907786G>A | CA406302419 | APOE | c.70G>A (p.Val24Met) c.148G>A (p.Val50Met) | dbSNP gnomAD v4 |
19 | g.44907786G>C | CA406302420 | APOE | c.70G>C (p.Val24Leu) c.148G>C (p.Val50Leu) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44907786G= | CA2338167326 | APOE | c.70G= (p.Val24=) c.148G= (p.Val50=) | |
19 | g.44907786G>T | CA406302421 | APOE | c.70G>T (p.Val24Leu) c.148G>T (p.Val50Leu) | COSMIC |
19 | g.44907787T>A | CA406302422 | APOE | c.71T>A (p.Val24Glu) c.149T>A (p.Val50Glu) | |
19 | g.44907787T>C | CA406302423 | APOE | c.71T>C (p.Val24Ala) c.149T>C (p.Val50Ala) | |
19 | g.44907787T>G | CA406302424 | APOE | c.71T>G (p.Val24Gly) c.149T>G (p.Val50Gly) | dbSNP |
19 | g.44907787T= | CA2338167327 | APOE | c.71T= (p.Val24=) c.149T= (p.Val50=) | |
19 | g.44907788G>A | CA507798955 | APOE | c.72G>A (p.Val24=) c.150G>A (p.Val50=) | dbSNP |
19 | g.44907788G>C | CA507798956 | APOE | c.72G>C (p.Val24=) c.150G>C (p.Val50=) | |
19 | g.44907788G= | CA2338167328 | APOE | c.72G= (p.Val24=) c.150G= (p.Val50=) | |
19 | g.44907788G>T | CA507798957 | APOE | c.72G>T (p.Val24=) c.150G>T (p.Val50=) | |
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.44907789G>A | CA406302425 | APOE | c.73G>A (p.Glu25Lys) c.151G>A (p.Glu51Lys) | dbSNP |
19 | g.44907789G>C | CA406302426 | APOE | c.73G>C (p.Glu25Gln) c.151G>C (p.Glu51Gln) | |
19 | g.44907789G= | CA2338167329 | APOE | c.73G= (p.Glu25=) c.151G= (p.Glu51=) | |
19 | g.44907789G>T | CA406302427 | APOE | c.73G>T (p.Glu25Ter) c.151G>T (p.Glu51Ter) | gnomAD v4 |
19 | g.44907790A>C | CA406302428 | APOE | c.74A>C (p.Glu25Ala) c.152A>C (p.Glu51Ala) | |
19 | g.44907790A>G | CA406302429 | APOE | c.74A>G (p.Glu25Gly) c.152A>G (p.Glu51Gly) | |
19 | g.44907790A>T | CA406302430 | APOE | c.74A>T (p.Glu25Val) c.152A>T (p.Glu51Val) | |
19 | g.44907791G>A | CA507798959 | APOE | c.75G>A (p.Glu25=) c.153G>A (p.Glu51=) | |
19 | g.44907791G>C | CA406302432 | APOE | c.75G>C (p.Glu25Asp) c.153G>C (p.Glu51Asp) | gnomAD v4 |
19 | g.44907791G>T | CA406302431 | APOE | c.75G>T (p.Glu25Asp) c.153G>T (p.Glu51Asp) | |
19 | g.44907792A= | CA2338167330 | APOE | c.76A= (p.Thr26=) c.154A= (p.Thr52=) | |
19 | g.44907792A>C | CA406302433 | APOE | c.76A>C (p.Thr26Pro) c.154A>C (p.Thr52Pro) | |
19 | g.44907792A>G | CA406302434 | APOE | c.76A>G (p.Thr26Ala) c.154A>G (p.Thr52Ala) | dbSNP gnomAD v4 |
19 | g.44907792A>T | CA406302435 | APOE | c.76A>T (p.Thr26Ser) c.154A>T (p.Thr52Ser) | |
19 | g.44907793C>A | CA406302436 | APOE | c.77C>A (p.Thr26Lys) c.155C>A (p.Thr52Lys) | |
19 | g.44907793C>G | CA406302437 | APOE | c.77C>G (p.Thr26Arg) c.155C>G (p.Thr52Arg) | |
19 | g.44907793C>T | CA406302438 | APOE | c.77C>T (p.Thr26Ile) c.155C>T (p.Thr52Ile) | |
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) |