Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.44909171G>A | CA127519 | APOE | c.875G>A (p.Arg292His) c.953G>A (p.Arg318His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.44909171G>C | CA406305729 | APOE | c.875G>C (p.Arg292Pro) c.953G>C (p.Arg318Pro) | |
19 | g.44909171G= | CA2338168109 | APOE | c.875G= (p.Arg292=) c.953G= (p.Arg318=) | |
19 | g.44909171G>T | CA406305731 | APOE | c.875G>T (p.Arg292Leu) c.953G>T (p.Arg318Leu) | dbSNP gnomAD v4 COSMIC |
19 | g.44909172C>A | CA507947733 | APOE | c.876C>A (p.Arg292=) c.954C>A (p.Arg318=) | |
19 | g.44909172C>G | CA507947734 | APOE | c.876C>G (p.Arg292=) c.954C>G (p.Arg318=) | |
19 | g.44909172C>T | CA507947735 | APOE | c.876C>T (p.Arg292=) c.954C>T (p.Arg318=) | gnomAD v4 |
19 | g.44909173C>A | CA406305733 | APOE | c.877C>A (p.Gln293Lys) c.955C>A (p.Gln319Lys) | gnomAD v4 |
19 | g.44909173C>G | CA406305735 | APOE | c.877C>G (p.Gln293Glu) c.955C>G (p.Gln319Glu) | |
19 | g.44909173C>T | CA406305737 | APOE | c.877C>T (p.Gln293Ter) c.955C>T (p.Gln319Ter) | gnomAD v4 |
19 | g.44909174A>C | CA406305739 | APOE | c.878A>C (p.Gln293Pro) c.956A>C (p.Gln319Pro) | |
19 | g.44909174A>G | CA406305740 | APOE | c.878A>G (p.Gln293Arg) c.956A>G (p.Gln319Arg) | |
19 | g.44909174A>T | CA406305742 | APOE | c.878A>T (p.Gln293Leu) c.956A>T (p.Gln319Leu) | gnomAD v4 |
19 | g.44909175G>A | CA507947737 | APOE | c.879G>A (p.Gln293=) c.957G>A (p.Gln319=) | dbSNP gnomAD v4 |
19 | g.44909175G>C | CA406305744 | APOE | c.879G>C (p.Gln293His) c.957G>C (p.Gln319His) | |
19 | g.44909175G= | CA2338168110 | APOE | c.879G= (p.Gln293=) c.957G= (p.Gln319=) | |
19 | g.44909175G>T | CA406305745 | APOE | c.879G>T (p.Gln293His) c.957G>T (p.Gln319His) | gnomAD v4 |
19 | g.44909176T>A | CA406305750 | APOE | c.880T>A (p.Trp294Arg) c.958T>A (p.Trp320Arg) | |
19 | g.44909176T>C | CA406305748 | APOE | c.880T>C (p.Trp294Arg) c.958T>C (p.Trp320Arg) | |
19 | g.44909176T>G | CA406305747 | APOE | c.880T>G (p.Trp294Gly) c.958T>G (p.Trp320Gly) | |
19 | g.44909177G>A | CA406305751 | APOE | c.881G>A (p.Trp294Ter) c.959G>A (p.Trp320Ter) | |
19 | g.44909177G>C | CA406305753 | APOE | c.881G>C (p.Trp294Ser) c.959G>C (p.Trp320Ser) | |
19 | g.44909177G>T | CA406305754 | APOE | c.881G>T (p.Trp294Leu) c.959G>T (p.Trp320Leu) | gnomAD v4 |
19 | g.44909179del | CA2585715472 | APOE | c.883del (p.Ala295ProfsTer?) c.961del (p.Ala321ProfsTer?) | gnomAD v4 |
19 | g.44909178G>A | CA406305756 | APOE | c.882G>A (p.Trp294Ter) c.960G>A (p.Trp320Ter) | dbSNP gnomAD v2 |
19 | g.44909178G>C | CA406305758 | APOE | c.882G>C (p.Trp294Cys) c.960G>C (p.Trp320Cys) | |
19 | g.44909178G= | CA2338168111 | APOE | c.882G= (p.Trp294=) c.960G= (p.Trp320=) | |
19 | g.44909178G>T | CA9506112 | APOE | c.882G>T (p.Trp294Cys) c.960G>T (p.Trp320Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44909179G>A | CA9506113 | APOE | c.883G>A (p.Ala295Thr) c.961G>A (p.Ala321Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.44909179G>C | CA406305762 | APOE | c.883G>C (p.Ala295Pro) c.961G>C (p.Ala321Pro) | |
19 | g.44909179G= | CA2338168112 | APOE | c.883G= (p.Ala295=) c.961G= (p.Ala321=) | |
19 | g.44909179G>T | CA406305763 | APOE | c.883G>T (p.Ala295Ser) c.961G>T (p.Ala321Ser) | gnomAD v4 |
19 | g.44909180C>A | CA406305765 | APOE | c.884C>A (p.Ala295Asp) c.962C>A (p.Ala321Asp) | gnomAD v4 |
19 | g.44909180C>G | CA406305767 | APOE | c.884C>G (p.Ala295Gly) c.962C>G (p.Ala321Gly) | |
19 | g.44909180C>T | CA406305768 | APOE | c.884C>T (p.Ala295Val) c.962C>T (p.Ala321Val) | dbSNP gnomAD v4 |
19 | g.44909181C>A | CA507947741 | APOE | c.885C>A (p.Ala295=) c.963C>A (p.Ala321=) | gnomAD v4 |
19 | g.44909181C= | CA2338168113 | APOE | c.885C= (p.Ala295=) c.963C= (p.Ala321=) | |
19 | g.44909181C>G | CA507947742 | APOE | c.885C>G (p.Ala295=) c.963C>G (p.Ala321=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.44909181C>T | CA507947744 | APOE | c.885C>T (p.Ala295=) c.963C>T (p.Ala321=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.44909182G>A | CA9506115 | APOE | c.886G>A (p.Gly296Arg) c.964G>A (p.Gly322Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44909182G>C | CA406305772 | APOE | c.886G>C (p.Gly296Arg) c.964G>C (p.Gly322Arg) | gnomAD v4 |
19 | g.44909182G= | CA2338168114 | APOE | c.886G= (p.Gly296=) c.964G= (p.Gly322=) | |
19 | g.44909182G>T | CA9506114 | APOE | c.886G>T (p.Gly296Trp) c.964G>T (p.Gly322Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.44909183G>A | CA406305776 | APOE | c.887G>A (p.Gly296Glu) c.965G>A (p.Gly322Glu) | gnomAD v4 |
19 | g.44909183G>C | CA406305780 | APOE | c.887G>C (p.Gly296Ala) c.965G>C (p.Gly322Ala) | gnomAD v4 |
19 | g.44909183G>T | CA406305778 | APOE | c.887G>T (p.Gly296Val) c.965G>T (p.Gly322Val) | gnomAD v4 |
19 | g.44909184G>A | CA507947749 | APOE | c.888G>A (p.Gly296=) c.966G>A (p.Gly322=) | gnomAD v4 |
19 | g.44909184G>C | CA507947752 | APOE | c.888G>C (p.Gly296=) c.966G>C (p.Gly322=) | |
19 | g.44909184G= | CA2338168115 | APOE | c.888G= (p.Gly296=) c.966G= (p.Gly322=) | |
19 | g.44909184G>T | CA507947751 | APOE | c.888G>T (p.Gly296=) c.966G>T (p.Gly322=) | dbSNP gnomAD v4 |