Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.44909136G>A | CA507947654 | APOE | c.840G>A (p.Lys280=) c.918G>A (p.Lys306=) | dbSNP gnomAD v2 |
19 | g.44909136G>C | CA406305556 | APOE | c.840G>C (p.Lys280Asn) c.918G>C (p.Lys306Asn) | |
19 | g.44909136G= | CA2338168085 | APOE | c.840G= (p.Lys280=) c.918G= (p.Lys306=) | |
19 | g.44909136G>T | CA406305558 | APOE | c.840G>T (p.Lys280Asn) c.918G>T (p.Lys306Asn) | gnomAD v4 |
19 | g.44909137A= | CA2338168086 | APOE | c.841A= (p.Ser281=) c.919A= (p.Ser307=) | |
19 | g.44909137A>C | CA406305560 | APOE | c.841A>C (p.Ser281Arg) c.919A>C (p.Ser307Arg) | |
19 | g.44909137A>G | CA406305562 | APOE | c.841A>G (p.Ser281Gly) c.919A>G (p.Ser307Gly) | dbSNP gnomAD v4 |
19 | g.44909137A>T | CA406305565 | APOE | c.841A>T (p.Ser281Cys) c.919A>T (p.Ser307Cys) | |
19 | g.44909138G>A | CA406305567 | APOE | c.842G>A (p.Ser281Asn) c.920G>A (p.Ser307Asn) | dbSNP |
19 | g.44909138G>C | CA406305570 | APOE | c.842G>C (p.Ser281Thr) c.920G>C (p.Ser307Thr) | |
19 | g.44909138G= | CA2338168087 | APOE | c.842G= (p.Ser281=) c.920G= (p.Ser307=) | |
19 | g.44909138G>T | CA406305571 | APOE | c.842G>T (p.Ser281Ile) c.920G>T (p.Ser307Ile) | gnomAD v4 |
19 | g.44909139C>A | CA406305577 | APOE | c.843C>A (p.Ser281Arg) c.921C>A (p.Ser307Arg) | gnomAD v4 |
19 | g.44909139C= | CA2338168088 | APOE | c.843C= (p.Ser281=) c.921C= (p.Ser307=) | |
19 | g.44909139C>G | CA406305575 | APOE | c.843C>G (p.Ser281Arg) c.921C>G (p.Ser307Arg) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44909139C>T | CA507947661 | APOE | c.843C>T (p.Ser281=) c.921C>T (p.Ser307=) | gnomAD v4 |
19 | g.44909140T>A | CA406305581 | APOE | c.844T>A (p.Trp282Arg) c.922T>A (p.Trp308Arg) | |
19 | g.44909140T>C | CA406305582 | APOE | c.844T>C (p.Trp282Arg) c.922T>C (p.Trp308Arg) | |
19 | g.44909140T>G | CA406305585 | APOE | c.844T>G (p.Trp282Gly) c.922T>G (p.Trp308Gly) | dbSNP |
19 | g.44909140T= | CA2338168089 | APOE | c.844T= (p.Trp282=) c.922T= (p.Trp308=) | |
19 | g.44909141G>A | CA406305589 | APOE | c.845G>A (p.Trp282Ter) c.923G>A (p.Trp308Ter) | gnomAD v4 |
19 | g.44909141G>C | CA406305591 | APOE | c.845G>C (p.Trp282Ser) c.923G>C (p.Trp308Ser) | |
19 | g.44909141G>T | CA406305594 | APOE | c.845G>T (p.Trp282Leu) c.923G>T (p.Trp308Leu) | gnomAD v4 |
19 | g.44909142G>A | CA406305597 | APOE | c.846G>A (p.Trp282Ter) c.924G>A (p.Trp308Ter) | gnomAD v4 |
19 | g.44909142G>C | CA308886085 | APOE | c.846G>C (p.Trp282Cys) c.924G>C (p.Trp308Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44909142G= | CA2338168090 | APOE | c.846G= (p.Trp282=) c.924G= (p.Trp308=) | |
19 | g.44909142G>T | CA406305600 | APOE | c.846G>T (p.Trp282Cys) c.924G>T (p.Trp308Cys) | gnomAD v4 |
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 |