| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.44908711_44908731dup | CA127504 | APOE | c.415_435dup (p.Gly145_Gln146insGluValGlnAlaMetLeuGly) c.493_513dup (p.Gly171_Gln172insGluValGlnAlaMetLeuGly) | ClinVar dbSNP gnomAD v4 |
| 19 | g.44908730G>A | CA041273 | APOE | c.434G>A (p.Gly145Asp) c.512G>A (p.Gly171Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.[44908730G>A;44908822C>T] | CA041311 | APOE | c.[434G>A;526C>T] (p.[Gly145Asp;Arg176Cys]) c.[512G>A;604C>T] (p.[Gly171Asp;Arg202Cys]) | ClinVar |
| 19 | g.44908730G>C | CA406304018 | APOE | c.434G>C (p.Gly145Ala) c.512G>C (p.Gly171Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908730G= | CA2338167652 | APOE | c.434G= (p.Gly145=) c.512G= (p.Gly171=) | |
| 19 | g.44908730G>T | CA406304019 | APOE | c.434G>T (p.Gly145Val) c.512G>T (p.Gly171Val) | gnomAD v4 |
| 19 | g.44908731C>A | CA507947643 | APOE | c.435C>A (p.Gly145=) c.513C>A (p.Gly171=) | gnomAD v4 |
| 19 | g.44908731C= | CA2338167657 | APOE | c.435C= (p.Gly145=) c.513C= (p.Gly171=) | |
| 19 | g.44908731C>G | CA507947646 | APOE | c.435C>G (p.Gly145=) c.513C>G (p.Gly171=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908731C>T | CA507947644 | APOE | c.435C>T (p.Gly145=) c.513C>T (p.Gly171=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908732C>A | CA406304020 | APOE | c.436C>A (p.Gln146Lys) c.514C>A (p.Gln172Lys) | gnomAD v4 |
| 19 | g.44908732C= | CA2338167659 | APOE | c.436C= (p.Gln146=) c.514C= (p.Gln172=) | |
| 19 | g.44908732C>G | CA406304021 | APOE | c.436C>G (p.Gln146Glu) c.514C>G (p.Gln172Glu) | |
| 19 | g.44908732C>T | CA406304022 | APOE | c.436C>T (p.Gln146Ter) c.514C>T (p.Gln172Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908733A= | CA2338167661 | APOE | c.437A= (p.Gln146=) c.515A= (p.Gln172=) | |
| 19 | g.44908733A>C | CA406304023 | APOE | c.437A>C (p.Gln146Pro) c.515A>C (p.Gln172Pro) | |
| 19 | g.44908733A>G | CA406304025 | APOE | c.437A>G (p.Gln146Arg) c.515A>G (p.Gln172Arg) | gnomAD v4 |
| 19 | g.44908733A>T | CA406304024 | APOE | c.437A>T (p.Gln146Leu) c.515A>T (p.Gln172Leu) | |
| 19 | g.44908734G>A | CA507947653 | APOE | c.438G>A (p.Gln146=) c.516G>A (p.Gln172=) | gnomAD v4 |
| 19 | g.44908734G>C | CA406304026 | APOE | c.438G>C (p.Gln146His) c.516G>C (p.Gln172His) | |
| 19 | g.44908734G>T | CA406304027 | APOE | c.438G>T (p.Gln146His) c.516G>T (p.Gln172His) | gnomAD v4 |
| 19 | g.44908737_44908743dup | CA882663992 | APOE | c.441_447dup (p.Glu150HisfsTer17) c.519_525dup (p.Glu176HisfsTer17) | dbSNP |
| 19 | g.44908735A>C | CA406304028 | APOE | c.439A>C (p.Ser147Arg) c.517A>C (p.Ser173Arg) | |
| 19 | g.44908735A>G | CA406304029 | APOE | c.439A>G (p.Ser147Gly) c.517A>G (p.Ser173Gly) | |
| 19 | g.44908735A>T | CA406304030 | APOE | c.439A>T (p.Ser147Cys) c.517A>T (p.Ser173Cys) | |
| 19 | g.44908736G>A | CA406304031 | APOE | c.440G>A (p.Ser147Asn) c.518G>A (p.Ser173Asn) | gnomAD v4 COSMIC |
| 19 | g.44908736G>C | CA406304032 | APOE | c.440G>C (p.Ser147Thr) c.518G>C (p.Ser173Thr) | gnomAD v4 |
| 19 | g.44908736G>T | CA406304033 | APOE | c.440G>T (p.Ser147Ile) c.518G>T (p.Ser173Ile) | gnomAD v4 |
| 19 | g.44908737C>A | CA406304034 | APOE | c.441C>A (p.Ser147Arg) c.519C>A (p.Ser173Arg) | gnomAD v4 |
| 19 | g.44908737C= | CA2338167667 | APOE | c.441C= (p.Ser147=) c.519C= (p.Ser173=) | |
| 19 | g.44908737C>G | CA406304035 | APOE | c.441C>G (p.Ser147Arg) c.519C>G (p.Ser173Arg) | |
| 19 | g.44908737C>T | CA507947662 | APOE | c.441C>T (p.Ser147=) c.519C>T (p.Ser173=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908738A>C | CA406304036 | APOE | c.442A>C (p.Thr148Pro) c.520A>C (p.Thr174Pro) | |
| 19 | g.44908738A>G | CA406304037 | APOE | c.442A>G (p.Thr148Ala) c.520A>G (p.Thr174Ala) | |
| 19 | g.44908738A>T | CA406304038 | APOE | c.442A>T (p.Thr148Ser) c.520A>T (p.Thr174Ser) | |
| 19 | g.44908739C>A | CA406304040 | APOE | c.443C>A (p.Thr148Asn) c.521C>A (p.Thr174Asn) | |
| 19 | g.44908739C= | CA2338167671 | APOE | c.443C= (p.Thr148=) c.521C= (p.Thr174=) | |
| 19 | g.44908739C>G | CA406304039 | APOE | c.443C>G (p.Thr148Ser) c.521C>G (p.Thr174Ser) | |
| 19 | g.44908739C>T | CA308885618 | APOE | c.443C>T (p.Thr148Ile) c.521C>T (p.Thr174Ile) | dbSNP gnomAD v4 |
| 19 | g.44908740C>A | CA507947665 | APOE | c.444C>A (p.Thr148=) c.522C>A (p.Thr174=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908740C= | CA2338167673 | APOE | c.444C= (p.Thr148=) c.522C= (p.Thr174=) | |
| 19 | g.44908740C>G | CA9506066 | APOE | c.444C>G (p.Thr148=) c.522C>G (p.Thr174=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.44908740C>T | CA507947664 | APOE | c.444C>T (p.Thr148=) c.522C>T (p.Thr174=) | dbSNP gnomAD v4 COSMIC |
| 19 | g.44908741G>A | CA406304041 | APOE | c.445G>A (p.Glu149Lys) c.523G>A (p.Glu175Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908741G>C | CA406304042 | APOE | c.445G>C (p.Glu149Gln) c.523G>C (p.Glu175Gln) | gnomAD v4 |
| 19 | g.44908741G= | CA2338167679 | APOE | c.445G= (p.Glu149=) c.523G= (p.Glu175=) | |
| 19 | g.44908741G>T | CA406304043 | APOE | c.445G>T (p.Glu149Ter) c.523G>T (p.Glu175Ter) | gnomAD v4 |
| 19 | g.44908756_44908757insTCTGGGAAGGGCTGGGCAGCAGAGGAGCTGCGGGTGC | CA9506067 | APOE | c.460_461insTCTGGGAAGGGCTGGGCAGCAGAGGAGCTGCGGGTGC (p.Arg154LeufsTer23) c.538_539insTCTGGGAAGGGCTGGGCAGCAGAGGAGCTGCGGGTGC (p.Arg180LeufsTer23) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.44908742A>C | CA406304044 | APOE | c.446A>C (p.Glu149Ala) c.524A>C (p.Glu175Ala) | |
| 19 | g.44908742A>G | CA406304045 | APOE | c.446A>G (p.Glu149Gly) c.524A>G (p.Glu175Gly) | gnomAD v4 |