Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.44909143T>A | CA406305603 | APOE | c.847T>A (p.Phe283Ile) c.925T>A (p.Phe309Ile) | |
19 | g.44909143T>C | CA406305605 | APOE | c.847T>C (p.Phe283Leu) c.925T>C (p.Phe309Leu) | |
19 | g.44909143T>G | CA406305607 | APOE | c.847T>G (p.Phe283Val) c.925T>G (p.Phe309Val) | |
19 | g.44909144T>A | CA406305612 | APOE | c.848T>A (p.Phe283Tyr) c.926T>A (p.Phe309Tyr) | |
19 | g.44909144T>C | CA406305615 | APOE | c.848T>C (p.Phe283Ser) c.926T>C (p.Phe309Ser) | |
19 | g.44909144T>G | CA406305610 | APOE | c.848T>G (p.Phe283Cys) c.926T>G (p.Phe309Cys) | |
19 | g.44909145del | CA2585715469 | APOE | c.849del (p.Phe283LeufsTer?) c.927del (p.Phe309LeufsTer?) | gnomAD v4 |
19 | g.44909145C>A | CA406305619 | APOE | c.849C>A (p.Phe283Leu) c.927C>A (p.Phe309Leu) | gnomAD v4 |
19 | g.44909145C= | CA2338168091 | APOE | c.849C= (p.Phe283=) c.927C= (p.Phe309=) | |
19 | g.44909145C>G | CA308886090 | APOE | c.849C>G (p.Phe283Leu) c.927C>G (p.Phe309Leu) | dbSNP |
19 | g.44909145C>T | CA507947669 | APOE | c.849C>T (p.Phe283=) c.927C>T (p.Phe309=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44909146G>A | CA406305632 | APOE | c.850G>A (p.Glu284Lys) c.928G>A (p.Glu310Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44909146G>C | CA406305634 | APOE | c.850G>C (p.Glu284Gln) c.928G>C (p.Glu310Gln) | |
19 | g.44909146G= | CA2338168092 | APOE | c.850G= (p.Glu284=) c.928G= (p.Glu310=) | |
19 | g.44909146G>T | CA406305635 | APOE | c.850G>T (p.Glu284Ter) c.928G>T (p.Glu310Ter) | gnomAD v4 |
19 | g.44909147A= | CA2338168093 | APOE | c.851A= (p.Glu284=) c.929A= (p.Glu310=) | |
19 | g.44909147A>C | CA406305636 | APOE | c.851A>C (p.Glu284Ala) c.929A>C (p.Glu310Ala) | |
19 | g.44909147A>G | CA9506107 | APOE | c.851A>G (p.Glu284Gly) c.929A>G (p.Glu310Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44909147A>T | CA406305638 | APOE | c.851A>T (p.Glu284Val) c.929A>T (p.Glu310Val) | |
19 | g.44909148G>A | CA507947671 | APOE | c.852G>A (p.Glu284=) c.930G>A (p.Glu310=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44909148G>C | CA406305640 | APOE | c.852G>C (p.Glu284Asp) c.930G>C (p.Glu310Asp) | gnomAD v4 |
19 | g.44909148G= | CA2338168095 | APOE | c.852G= (p.Glu284=) c.930G= (p.Glu310=) | |
19 | g.44909148G>T | CA9506108 | APOE | c.852G>T (p.Glu284Asp) c.930G>T (p.Glu310Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.44909148_44909149delinsGC | CA2338168094 | APOE | c.852_853delinsGC (p.Glu284=) c.930_931delinsGC (p.Glu310=) | |
19 | g.44909149C>A | CA406305644 | APOE | c.853C>A (p.Pro285Thr) c.931C>A (p.Pro311Thr) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44909149C= | CA2338168096 | APOE | c.853C= (p.Pro285=) c.931C= (p.Pro311=) | |
19 | g.44909149C>G | CA406305645 | APOE | c.853C>G (p.Pro285Ala) c.931C>G (p.Pro311Ala) | |
19 | g.44909149C>T | CA406305647 | APOE | c.853C>T (p.Pro285Ser) c.931C>T (p.Pro311Ser) | gnomAD v4 |
19 | g.44909152dup | CA2585715470 | APOE | c.856dup (p.Leu286ProfsTer?) c.934dup (p.Leu312ProfsTer?) | gnomAD v4 |
19 | g.44909152del | CA633478363 | APOE | c.856del (p.Leu286TrpfsTer?) c.934del (p.Leu312TrpfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44909150C>A | CA406305652 | APOE | c.854C>A (p.Pro285His) c.932C>A (p.Pro311His) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44909150C= | CA2338168097 | APOE | c.854C= (p.Pro285=) c.932C= (p.Pro311=) | |
19 | g.44909150C>G | CA406305650 | APOE | c.854C>G (p.Pro285Arg) c.932C>G (p.Pro311Arg) | |
19 | g.44909150C>T | CA406305648 | APOE | c.854C>T (p.Pro285Leu) c.932C>T (p.Pro311Leu) | dbSNP |
19 | g.44909151C>A | CA507947675 | APOE | c.855C>A (p.Pro285=) c.933C>A (p.Pro311=) | dbSNP |
19 | g.44909151C= | CA2338168098 | APOE | c.855C= (p.Pro285=) c.933C= (p.Pro311=) | |
19 | g.44909151C>G | CA507947677 | APOE | c.855C>G (p.Pro285=) c.933C>G (p.Pro311=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44909151C>T | CA507947676 | APOE | c.855C>T (p.Pro285=) c.933C>T (p.Pro311=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44909152C>A | CA9506110 | APOE | c.856C>A (p.Leu286Met) c.934C>A (p.Leu312Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.44909152C= | CA2338168099 | APOE | c.856C= (p.Leu286=) c.934C= (p.Leu312=) | |
19 | g.44909152C>G | CA406305654 | APOE | c.856C>G (p.Leu286Val) c.934C>G (p.Leu312Val) | |
19 | g.44909152C>T | CA9506109 | APOE | c.856C>T (p.Leu286=) c.934C>T (p.Leu312=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44909153T>A | CA406305656 | APOE | c.857T>A (p.Leu286Gln) c.935T>A (p.Leu312Gln) | gnomAD v4 |
19 | g.44909153T>C | CA406305657 | APOE | c.857T>C (p.Leu286Pro) c.935T>C (p.Leu312Pro) | gnomAD v4 |
19 | g.44909153T>G | CA406305658 | APOE | c.857T>G (p.Leu286Arg) c.935T>G (p.Leu312Arg) | gnomAD v4 |
19 | g.44909156_44909158del | CA2585715471 | APOE | c.860_862del (p.Val287del) c.938_940del (p.Val313del) | gnomAD v4 |
19 | g.44909154G>A | CA507947682 | APOE | c.858G>A (p.Leu286=) c.936G>A (p.Leu312=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44909154G>C | CA507947685 | APOE | c.858G>C (p.Leu286=) c.936G>C (p.Leu312=) | |
19 | g.44909154G= | CA2338168100 | APOE | c.858G= (p.Leu286=) c.936G= (p.Leu312=) | |
19 | g.44909154G>T | CA507947686 | APOE | c.858G>T (p.Leu286=) c.936G>T (p.Leu312=) | dbSNP gnomAD v3 gnomAD v4 |