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.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) | |
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 |