| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.116830247_116836307delinsAGACAGAGGGCCTGAGGCAGGAGATGAGCAAGGATCTGGAGGAGGTGAAGGCCAAGGTGCAGCCCTACCTGGACGACTTCCAGAAGAAGTGGCAGGAGGAGATGGAGCTCTACCGCCAGAAGGTGGAGCCGCTGCGCGCAGAGCTCCAAGAGGGCGCGCGCCAGAAGCTGCACGAGCTGCAAGAGAAGCTGAGCCCACTGGGCGAGGAGATGCGCGACCGCGCGCGCGCCCATGTGGACGCGCTGCGCACGCATCTGGCCCCCTACAGCGACGAGCTGCGCCAGCGCTTGGCCGCGCGCCTTGAGGCTCTCAAGGAGAACGGCGGCGCCAGACTGGCCGAGTACCACGCCAAGGCCACCGAGCATCTGAGCACGCTCAGCGAGAAGGCCAAGCCCGCGCTCGAGGACCTCCGCCAAGGCCTGCTGCCCGTGCTGGAGAGCTTCAAGGTCAGCTTCCTGAGCGCTCTCGAGGAGTACACTAAGAAGCTCAACACCCAGTGAGGCGCCCGCCGCCGCCCCCCTTCCCGGTGCTCAGAATAAACGTTTCCAAAGTGGGAAGCAGCTTCTTTCTTTTGGGAGAATAGAGGGGGGTGCGGGGACATCCGGGGGAGCCCGGGTGGGGCCTTTGGCCCTGGAGCAGGGACTTCCTGCCGGATCTCAACAACTCCGTGCCCAGACTGGACGTCTTAGGGCCAAGATCGACGTTGGAGGACCTGCTGGACGCCTGGCTGCTTACGAGTGAGGGAGTAGAGTCTGCCTTAGCAAGGCTCAAGTAGAAAGGAAGTCACAGCGGACCAGGCAAAGCCACAGACAATCCAAGGCCAGGTGCCCTGAAAGGGGCTCAAACAAGGCCTGCAGCCCTGTCTGAGGCGGGCCAGGAAACAGGGTTGCTTTAGCTGGGAGCAGTGGGTTCCCCGTCCCCAGAGGTGTGTCCGTATAGAGCCTTCTCCAGCCCAGCCGCTGTCAGCGGGGCGGGACGGAGCGGGGCGGCCTCAGGGAGCCAGCCACTGGGATTGGGGTTTGGTCCCGGGTGCAAGTGAAGCGCTTGGAGTTTGCGCCTGTCCTCCTTTACTAATTCAAAAACCTCTCAAACAGACACTTCCCTTTTCTTCTCACAAGGCCAGTATCCCCCTCCCACTACTCCCATCCCGCCCAGAAACAGCCGCGGCTTCCTCAGGCACAGCAGTGGAAGCCAGTCCTCCACCCCCTGCGGCTCCATGCCATGCCACCCCCTCTTTCTGCCAGCCCTGGCAGAAGCTGGCCTGAGTAAGAAAATTCACCACCACCTCTTGCAGGTACATTTTTATTTCCAAGATGCTCTCATATCTGTGCTCTCACTGCATCCTCCCTTCCCCACATCCTGGCTAGATTGCCATCAGACGCAGAGCATGGATGAGGACACTGAAGCCTGGACCTGTGACGTCGCTTGCCCAGTGAACAGCAGGATGGGCTAGGCCGCGCTTTTTAGACCCTGCACCCCTGGCCATCCATGATTATTGAAAAGAGTGCGCGGGTCGGGTGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGTATCACTTCAGGCCAGGAGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATCAGCTGGGCATGGTGGCTTGCACCCGTAATCCCAGCTACTAGGAAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTCACAGTGAGCCGAAATCATGCCACTGCACTCCAGCCTGGGCGACGGAGCAAGACTCCAGCTAAAAAAAAAAAAAAAAAAAAAAGAGTGTGTGGCCTGGCACTCAAGTTCACATGGGTGTGCAGGCATGCCTGTGTATTCTCACATGACCTCCCTGCTCACGGTCCCTCCTTGCACTCATGTCTGAATGTCCCCGCGTGCACGCACATGGCTTCACAGATCTGGGCAGTGCCTTCCCTACCCTCTCTCTGCAGGGCCTTTTGCCCCCTCATGCAGGCCCCTGGATAATCGGCCCCATCCCCATGTCCCCATCTCCAGTGTATCTTAGCTACCCTAGGTAAAGGAGTGGGCTTTTTAGTTCCTAACCTTCCAGAGCTACAACAGCAGTCATCCAGCCAGGTCTGGGTGGGAACATTTTCTAGATACGGGTGCTGAGATCTCTCAGCCCAGAGAGAAGCCCTGGGGAATTTTCAGAGAGAAAGCAGTCTCCAGGTGGGGCTGGATGTACTGATGCCACTGAGATCTGTAAAGGAGTCCCTAACACCTGACATAGGAGTGACAAAACTGTTTTCTGCACCAACTGAGCAGAATACACGCAGCTGACCTGGGCTCAAGGTCTGGCCCTGCCACGTGCTGGCTCTGTGATGCTGGCCAAGTGCCTTCGCCTCTCCGGGCCACAGTTTTTTGATCTGAAGAGTGGAGCCCTACTCAAGCCATCTGCAGCTCTCGGGCTCTCTGACCTGACATCTTTCGGGTGGTGGGGACACAAAGGAAGCAGCCTCTATTGGGAGACCTTGTGCTTCTTTTTGGTCCCAGGACACTGCCCCCCACCACTCCAGTCCGGGTCCCAAGGGCCCAGTCAGCTCAACTGTAATCATGACAACATTGATCAAGCATCTTTACGTGCAGGTGCTGTGCCAAACGGTTCGAACGCTCTCTCATTTCAATCTCACGGCAAACCTACGGTGGAGGGGGTACGGTTGTATCCACTTTACATGTAAGAAACTGAGGCTGATATCAAGTGGTGGAGCCAAGAATAGTGCCTCGTTGCATCTTACTCCAACCTCTAGCCCATCCGGCCTCCTCCCTTCACGTGCGCCTAAGAGGGCTAGGGGGCCTGGATAGGGGAGGTCAGCTCCACAGTTTTGAGTAAACACACACAGTCTCAACTCTGATGACAACTTAAGTGCCAGGCATAGTGGCTGGCATGGGGCACACACTCAAGTCATGTTGTGCAGCACCTAACAGTTTATCAAAGTATCAGCAAACTTATTGTCCTGTTTGACCTTCCGCACAAAGCTGTCAAGGAAGGCAGGGTACGGAGGGTGATTCCTACCTTAGAGATGAAGAAACTGAGGCCCAGAGACTGCCCAGCTACCAGAAGGTGGATAGAGCGCTGGCCTCCATGCCTGCCTGACCTGGAGTCTGTCCAGTGCCCACCCACAGAACAGCCTCGGCCCTTTCCCATGCCCAGACACAGATGGCACACTTGCGACGGCCCACTCATAGCAGCTTCTTGTCCAGCTTTATTGGGAGGCCAGCATGCCTGGAGGGGGGCCAGGCATGAGGTGGGGTAGGAGAGCACTGAGAATACTGTCCCTTTTAAGCAACCTACAGGGGCAGCCCTGGAGATTGCAGGACCCAAGGAGCTCGCAGGATGGATAGGCAGGTGGACTTGGGGTATTGAGGTCTCAGGCAGCCACGGCTGAAGTTGGTCTGACCTCAGGGTCCAAATCCCAGAACTCAGAGAACTTGTCCTTAACGGTGCTCCAGTAGTCTTTCAGGGAACTGAAGCCATCGGTCACCCAGCCCCTAAATCAGTCAGGGGAAGCAACAGAGCAGGGCATGAGAACTCCTCTGTAGGCAACCATGGGACCCACACCCATGTCCCCACTGGACGACACCAGTCAGGACCACACCACCCTCTCAACTTCACTGGACGACAGCCCTGAGACCTCAGGCAGGAATCCCCCACAGCTGCCACCCTGGGAGAAGAGATATCCTTGCAGGAACCCCAGCACAAGTCAAACCCTGCCATCTCCAGGTCACCTCAGATGTTTATGCCCCTGGGCCTGAGGCACAAAGTGACAGGGTGGGGAGATGTGAAAGGTCAAGGCTGTCATTGTTTTCTGTGCAAACAGCACCGCCTGGAGTTGCACAACCTGGTGGCTCTGAGCAGGGTAGGACAGAGGGAGGCAGCCTCTCATTTGGAAAGTCATTGGAGGATTGATTAGTTGTGTGATCTGGGGCAGGTCACCTAATCGCTCTGAGCCTCAATTTTCTCATCTGCAAAGTGAGAAAATAACACCTACCCCAAAGCCGGTTCTGGGGACTAAGAATGTTTATGAACACCTCTGCTATGCCAGCTAATGCCAGTCAGGGTGAGGTGGAGAAGGGAGTAGGGGAGAGGAGAGTACTGATGGGCAGGGGCAGGATGGGAGAGGAAGGACACACTTCTGCTCACACTGGCCCCAGGTCTTAGAACAAAGCAGAAGCACTCACGGGCTTGAATTGGGTCAGGTGGGGCCTCCCAAGGCAAACCCCTAGCCCAGGGGTCCCCAACCCCCAAGTCATAGATAGGTACTGGTCCATGGACTGTTAGGAGCCGGGCTGCACAGCACGAAGTGAGTGGTGGGTGAGTGAGCAATACCGCCTGAGCTCCGCCTCCTGTCAGATCAAGTGGCCTTACATTCTCATAGGAGTGTGAACCCTATTGTGAACTGCACATGCCAGGGATCTAGGTGGAGGGCTCCTTATGAGAATCTAATGCCTGATGATCTGAGGTGGAACAGCTTCATCCCAAAACCATCCCCGCTGGCCCATGGAAAAATTGTCCACCACAAAACTGGTCCCTGGTGCCAAAAAGGCTGAGGACCACTGCTCTAGCCAGACCTTCAGAAAAGGAAAATGGGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCCCCTGAGGTCAGGAATTCAAGACCAACCTGGCCAACATGGTGAAACCCCATCTCTGCTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGGTTGAACCCGGGAGACGGAGGTTGCAGTGAGCCGAGATGGCACCACTGCACTCCAGCCTAGGTGACAGAGGGAGACTCCATTAAAAAAAAAAGAAGAAGAAAGAAAGAGAGAAAGGAAGAGAGGGAAAGAAAGAAAAAGGAAAGAAAGAAAGAAAGAGAAAGAAAGGAAAGAAAGAAAGAAAGGAAAGAAAGAAAGGAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAATAGAAAGAGAAAGAAAGGGAAAGGAAAGGAAAATGGAAATGAGGGCTAAAACGGCACGCCCTAGGACTGCTCCGGGGAGAAAGGAGGGACCTGGGAGGAATGCAGTCTCAACTCTGTCATCTCTCCCGCAGCAGCCTGACAAAGGCCCTGTGAGGAAAGAGGAGGCTGAAGAGGCACAGGCCCAGGGGAGGCTGGAGCACCTCCATTCCATTGTTGGGATCTCACCAGGGCAGGGGCGGGTGGGAATGGAGGCAGCTGGCAGGGGGGATGGGGAGGGAGGCCAGCGGGTGTACCTGGCCTGCTGGGCCACCTGGGACTCCTGCACGCTGCTCAGTGCATCCTTGGCGGTCTTGGTGGCGTGCTTCATGTAACCCTGCATGAAGCTGAGAAGGGAGGCATCCTCGGCCTCTGAAGCTCCTGAGGAAAGAGCAGGGCTGAGTGGGGTGGATCGGCCTCTGGACGAGCCCTGGGCTCCTGCTTGACCACCCATTGGGACTGGGATCCCCAAGTTGCCTCCACCCTGCCCCCAGCCCAGTCCCACCAAGTGCTTACGGGCAGAGGCCAGGAGCGCCAGGAGGGCAACAACAAGGAGTACCCGGGGCTGCATGGCACCTCTGTTCCTGCAAGGAAGTGTCCTGTGAGGGGCACCCCAGGTCCCCATGCCTCTGGACCCCTCCCTGGGGAGGTGGCGTGGCCCCTAAGGTAGAACCTTAGCTGGGTCTGCCAGAAGGAGTAGGGGCCGGCTCCCTGCTAATACGGGCTCTCAGAAGGGGGACTGGTGAGGGGCGAGGGATCGAGGCCCAAAGGGAGGTGGGTGGGATGGAGCAGAAAACCCACCAGACTGAACATCAAGGCACCTGCGGTCTGGACTGATCTCCGTCCAGTCCAGCCAACATGCTGTGTGTCTTTGGGTGATTTCTGGCCCTCTCCAGGCCTCAGTTTC | CA2697558960 | ClinVar | ||
| 11 | g.116835759T>C | CA2616111741 | APOA1 | c.*49A>G (n.*49A>G) | gnomAD v4 |
| 11 | g.116835760T>C | CA2616111742 | APOA1 | c.*48A>G (n.*48A>G) | gnomAD v4 |
| 11 | g.116835760T>G | CA6289726 | APOA1 | c.*48A>C (n.*48A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116835760T= | CA2002761699 | APOA1 | c.*48A= (n.*48A=) | |
| 11 | g.116835761G>A | CA6289727 | APOA1 | c.*47C>T (n.*47C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116835761G= | CA2002761700 | APOA1 | c.*47C= (n.*47C=) | |
| 11 | g.116835762G>A | CA6289728 | APOA1 | c.*46C>T (n.*46C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116835762G= | CA2002761702 | APOA1 | c.*46C= (n.*46C=) | |
| 11 | g.116835762G>T | CA2741211957 | APOA1 | c.*46C>A (n.*46C>A) | |
| 11 | g.116835762_116835763delinsGA | CA2002761701 | APOA1 | c.*45_*46delinsTC (n.*45_*46delinsTC) | |
| 11 | g.116835765del | CA602136478 | APOA1 | c.*45del (n.*45del) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116835764_116835766delinsAAC | CA2002761703 | APOA1 | c.*42_*44delinsGTT (n.*42_*44delinsGTT) | |
| 11 | g.116835765_116835766del | CA2002761704 | APOA1 | c.*42_*43del (n.*42_*43del) | dbSNP |
| 11 | g.116835766C= | CA2002761705 | APOA1 | c.*42G= (n.*42G=) | |
| 11 | g.116835766C>G | CA602136479 | APOA1 | c.*42G>C (n.*42G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116835766C>T | CA672204035 | APOA1 | c.*42G>A (n.*42G>A) | dbSNP |
| 11 | g.116835767G>A | CA602136480 | APOA1 | c.*41C>T (n.*41C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116835767G= | CA2002761706 | APOA1 | c.*41C= (n.*41C=) | |
| 11 | g.116835771A= | CA2002761707 | APOA1 | c.*37T= (n.*37T=) | |
| 11 | g.116835771A>G | CA2002761708 | APOA1 | c.*37T>C (n.*37T>C) | dbSNP |
| 11 | g.116835772T>C | CA229323613 | APOA1 | c.*36A>G (n.*36A>G) | dbSNP |
| 11 | g.116835772T>G | CA2793765397 | APOA1 | c.*36A>C (n.*36A>C) | |
| 11 | g.116835772T= | CA2002761709 | APOA1 | c.*36A= (n.*36A=) | |
| 11 | g.116835774C>A | CA2616111743 | APOA1 | c.*34G>T (n.*34G>T) | gnomAD v4 |
| 11 | g.116835774C>T | CA2616111744 | APOA1 | c.*34G>A (n.*34G>A) | gnomAD v4 |
| 11 | g.116835776G>T | CA2616111745 | APOA1 | c.*32C>A (n.*32C>A) | gnomAD v4 |
| 11 | g.116835777A= | CA2002761710 | APOA1 | c.*31T= (n.*31T=) | |
| 11 | g.116835777A>C | CA672204046 | APOA1 | c.*31T>G (n.*31T>G) | dbSNP |
| 11 | g.116835780A= | CA2002761711 | APOA1 | c.*28T= (n.*28T=) | |
| 11 | g.116835780A>G | CA229323627 | APOA1 | c.*28T>C (n.*28T>C) | dbSNP |
| 11 | g.116835781C= | CA2002761712 | APOA1 | c.*27G= (n.*27G=) | |
| 11 | g.116835781C>T | CA6289729 | APOA1 | c.*27G>A (n.*27G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116835782del | CA2616111746 | APOA1 | c.*27del (n.*27del) | gnomAD v4 |
| 11 | g.116835782C= | CA2002761713 | APOA1 | c.*26G= (n.*26G=) | |
| 11 | g.116835782C>T | CA2002761714 | APOA1 | c.*26G>A (n.*26G>A) | dbSNP gnomAD v4 |
| 11 | g.116835783G>A | CA2002761716 | APOA1 | c.*25C>T (n.*25C>T) | dbSNP gnomAD v4 |
| 11 | g.116835783G>C | CA2616111748 | APOA1 | c.*25C>G (n.*25C>G) | gnomAD v4 |
| 11 | g.116835783G= | CA2002761715 | APOA1 | c.*25C= (n.*25C=) | |
| 11 | g.116835785del | CA2616111747 | APOA1 | c.*25del (n.*25del) | gnomAD v4 |
| 11 | g.116835784G>A | CA602136481 | APOA1 | c.*24C>T (n.*24C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116835784G>C | CA6289730 | APOA1 | c.*24C>G (n.*24C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116835784G= | CA2002761717 | APOA1 | c.*24C= (n.*24C=) | |
| 11 | g.116835785G>A | CA2002761720 | APOA1 | c.*23C>T (n.*23C>T) | dbSNP |
| 11 | g.116835785G= | CA2002761719 | APOA1 | c.*23C= (n.*23C=) | |
| 11 | g.116835785_116835786delinsGA | CA2002761718 | APOA1 | c.*22_*23delinsTC (n.*22_*23delinsTC) | |
| 11 | g.116835786A>G | CA2575000167 | APOA1 | c.*22T>C (n.*22T>C) | |
| 11 | g.116835787del | CA6289731 | APOA1 | c.*22del (n.*22del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116835787A= | CA2002761721 | APOA1 | c.*21T= (n.*21T=) | |
| 11 | g.116835787A>G | CA2575000168 | APOA1 | c.*21T>C (n.*21T>C) | |
| 11 | g.116835788G>A | CA6289733 | APOA1 | c.*20C>T (n.*20C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116835788G>C | CA6289732 | APOA1 | c.*20C>G (n.*20C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116835788G= | CA2002761723 | APOA1 | c.*20C= (n.*20C=) | |
| 11 | g.116835788G>T | CA2002761722 | APOA1 | c.*20C>A (n.*20C>A) | dbSNP gnomAD v4 |
| 11 | g.116835793dup | CA942609845 | APOA1 | c.*20dup (n.*20dup) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116835789G>A | CA6289736 | APOA1 | c.*19C>T (n.*19C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116835789G>C | CA6289734 | APOA1 | c.*19C>G (n.*19C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116835789G= | CA2002761724 | APOA1 | c.*19C= (n.*19C=) | |
| 11 | g.116835789G>T | CA6289735 | APOA1 | c.*19C>A (n.*19C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116835790G>C | CA672204088 | APOA1 | c.*18C>G (n.*18C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116835790G= | CA2002761725 | APOA1 | c.*18C= (n.*18C=) | |
| 11 | g.116835791G>A | CA6289737 | APOA1 | c.*17C>T (n.*17C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116835791G= | CA2002761726 | APOA1 | c.*17C= (n.*17C=) | |
| 11 | g.116835791G>T | CA2575000169 | APOA1 | c.*17C>A (n.*17C>A) | gnomAD v4 |
| 11 | g.116835791_116835794delinsGGGC | CA2002761727 | APOA1 | c.*14_*17delinsGCCC (n.*14_*17delinsGCCC) | |
| 11 | g.116835792G>C | CA229323736 | APOA1 | c.*16C>G (n.*16C>G) | dbSNP |
| 11 | g.116835792G= | CA2002761729 | APOA1 | c.*16C= (n.*16C=) | |
| 11 | g.116835792_116835797delinsGGCGGC | CA2002761730 | APOA1 | c.*11_*16delinsGCCGCC (n.*11_*16delinsGCCGCC) | |
| 11 | g.116835800_116835802del | CA2002761728 | APOA1 | c.*14_*16del (n.*14_*16del) | dbSNP gnomAD v4 |
| 11 | g.116835793G>A | CA6289738 | APOA1 | c.*15C>T (n.*15C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116835793G= | CA2002761731 | APOA1 | c.*15C= (n.*15C=) | |
| 11 | g.116835793G>T | CA602136482 | APOA1 | c.*15C>A (n.*15C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116835794_116835798del | CA602136483 | APOA1 | c.*11_*15del (n.*11_*15del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116835794C= | CA2002761732 | APOA1 | c.*14G= (n.*14G=) | |
| 11 | g.116835794C>T | CA2002761733 | APOA1 | c.*14G>A (n.*14G>A) | dbSNP gnomAD v4 |
| 11 | g.116835795G>A | CA2002761735 | APOA1 | c.*13C>T (n.*13C>T) | dbSNP |
| 11 | g.116835795G= | CA2002761734 | APOA1 | c.*13C= (n.*13C=) | |
| 11 | g.116835797C>T | CA2616111750 | APOA1 | c.*11G>A (n.*11G>A) | gnomAD v4 |
| 11 | g.116835798G>A | CA2616111751 | APOA1 | c.*10C>T (n.*10C>T) | gnomAD v4 |
| 11 | g.116835799G>A | CA2616111752 | APOA1 | c.*9C>T (n.*9C>T) | gnomAD v4 |
| 11 | g.116835800C= | CA2002761736 | APOA1 | c.*8G= (n.*8G=) | |
| 11 | g.116835800C>T | CA6289739 | APOA1 | c.*8G>A (n.*8G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116835801G>A | CA2002761738 | APOA1 | c.*7C>T (n.*7C>T) | dbSNP |
| 11 | g.116835801G= | CA2002761737 | APOA1 | c.*7C= (n.*7C=) | |
| 11 | g.116835804C= | CA2002761739 | APOA1 | c.*4G= (n.*4G=) | |
| 11 | g.116835804C>T | CA942609862 | APOA1 | c.*4G>A (n.*4G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116835805G>A | CA6289740 | APOA1 | c.*3C>T (n.*3C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116835805G= | CA2002761740 | APOA1 | c.*3C= (n.*3C=) | |
| 11 | g.116835805G>T | CA2793765408 | APOA1 | c.*3C>A (n.*3C>A) | |
| 11 | g.116835807C>T | CA654624873 | APOA1 | c.*1G>A (n.*1G>A) | gnomAD v4 COSMIC COSMIC |
| 11 | g.116835808T>A | CA382713507 | APOA1 | c.804A>T (p.Ter268Cys) c.738A>T (p.Ter246Cys) c.477A>T (p.Ter159Cys) | |
| 11 | g.116835808T>C | CA382713510 | APOA1 | c.804A>G (p.Ter268Trp) c.738A>G (p.Ter246Trp) c.477A>G (p.Ter159Trp) | |
| 11 | g.116835808T>G | CA382713514 | APOA1 | c.804A>C (p.Ter268Cys) c.738A>C (p.Ter246Cys) c.477A>C (p.Ter159Cys) | |
| 11 | g.116835809C>A | CA382713516 | APOA1 | c.803G>T (p.Ter268Leu) c.737G>T (p.Ter246Leu) c.476G>T (p.Ter159Leu) | |
| 11 | g.116835809C>G | CA382713517 | APOA1 | c.803G>C (p.Ter268Ser) c.737G>C (p.Ter246Ser) c.476G>C (p.Ter159Ser) | |
| 11 | g.116835809C>T | CA477048457 | APOA1 | c.803G>A (p.Ter268=) c.737G>A (p.Ter246=) c.476G>A (p.Ter159=) | |
| 11 | g.116835810A>C | CA382713518 | APOA1 | c.802T>G (p.Ter268Gly) c.736T>G (p.Ter246Gly) c.475T>G (p.Ter159Gly) | |
| 11 | g.116835810A>G | CA382713523 | APOA1 | c.802T>C (p.Ter268Arg) c.736T>C (p.Ter246Arg) c.475T>C (p.Ter159Arg) | |
| 11 | g.116835810A>T | CA382713520 | APOA1 | c.802T>A (p.Ter268Arg) c.736T>A (p.Ter246Arg) c.475T>A (p.Ter159Arg) | |
| 11 | g.116835810_116835811delinsAC | CA2002761741 | APOA1 | c.801_802delinsGT (p.Gln267=) c.735_736delinsGT (p.Gln245=) c.474_475delinsGT (p.Gln158=) | |
| 11 | g.116835811del | CA2002761742 | APOA1 | c.801del (p.Gln267HisfsTer?) c.735del (p.Gln245HisfsTer?) c.474del (p.Gln158HisfsTer?) | dbSNP |
| 11 | g.116835811C>A | CA382713528 | APOA1 | c.801G>T (p.Gln267His) c.735G>T (p.Gln245His) c.474G>T (p.Gln158His) | gnomAD v4 |
| 11 | g.116835811C>G | CA382713530 | APOA1 | c.801G>C (p.Gln267His) c.735G>C (p.Gln245His) c.474G>C (p.Gln158His) | |
| 11 | g.116835811C>T | CA477048458 | APOA1 | c.801G>A (p.Gln267=) c.735G>A (p.Gln245=) c.474G>A (p.Gln158=) | |
| 11 | g.116835812T>A | CA382713543 | APOA1 | c.800A>T (p.Gln267Leu) c.734A>T (p.Gln245Leu) c.473A>T (p.Gln158Leu) | dbSNP gnomAD v4 |
| 11 | g.116835812T>C | CA382713548 | APOA1 | c.800A>G (p.Gln267Arg) c.734A>G (p.Gln245Arg) c.473A>G (p.Gln158Arg) | gnomAD v4 |
| 11 | g.116835812T>G | CA6289741 | APOA1 | c.800A>C (p.Gln267Pro) c.734A>C (p.Gln245Pro) c.473A>C (p.Gln158Pro) | dbSNP ExAC gnomAD v2 |
| 11 | g.116835812T= | CA2002761743 | APOA1 | c.800A= (p.Gln267=) c.734A= (p.Gln245=) c.473A= (p.Gln158=) | |
| 11 | g.116835813G>A | CA6289742 | APOA1 | c.799C>T (p.Gln267Ter) c.733C>T (p.Gln245Ter) c.472C>T (p.Gln158Ter) | dbSNP ExAC gnomAD v2 |
| 11 | g.116835813G>C | CA382713561 | APOA1 | c.799C>G (p.Gln267Glu) c.733C>G (p.Gln245Glu) c.472C>G (p.Gln158Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116835813G= | CA2002761744 | APOA1 | c.799C= (p.Gln267=) c.733C= (p.Gln245=) c.472C= (p.Gln158=) | |
| 11 | g.116835813G>T | CA382713564 | APOA1 | c.799C>A (p.Gln267Lys) c.733C>A (p.Gln245Lys) c.472C>A (p.Gln158Lys) | gnomAD v4 |
| 11 | g.116835814G>A | CA477048459 | APOA1 | c.798C>T (p.Thr266=) c.732C>T (p.Thr244=) c.471C>T (p.Thr157=) | |
| 11 | g.116835814G>C | CA477048460 | APOA1 | c.798C>G (p.Thr266=) c.732C>G (p.Thr244=) c.471C>G (p.Thr157=) | |
| 11 | g.116835814G>T | CA477048461 | APOA1 | c.798C>A (p.Thr266=) c.732C>A (p.Thr244=) c.471C>A (p.Thr157=) | |
| 11 | g.116835815G>A | CA382713568 | APOA1 | c.797C>T (p.Thr266Ile) c.731C>T (p.Thr244Ile) c.470C>T (p.Thr157Ile) | gnomAD v4 |
| 11 | g.116835815G>C | CA382713570 | APOA1 | c.797C>G (p.Thr266Ser) c.731C>G (p.Thr244Ser) c.470C>G (p.Thr157Ser) | gnomAD v4 |
| 11 | g.116835815G= | CA2002761745 | APOA1 | c.797C= (p.Thr266=) c.731C= (p.Thr244=) c.470C= (p.Thr157=) | |
| 11 | g.116835815G>T | CA382713571 | APOA1 | c.797C>A (p.Thr266Asn) c.731C>A (p.Thr244Asn) c.470C>A (p.Thr157Asn) | |
| 11 | g.116835816T>A | CA382713575 | APOA1 | c.796A>T (p.Thr266Ser) c.730A>T (p.Thr244Ser) c.469A>T (p.Thr157Ser) | |
| 11 | g.116835816T>C | CA382713577 | APOA1 | c.796A>G (p.Thr266Ala) c.730A>G (p.Thr244Ala) c.469A>G (p.Thr157Ala) | |
| 11 | g.116835816T>G | CA382713573 | APOA1 | c.796A>C (p.Thr266Pro) c.730A>C (p.Thr244Pro) c.469A>C (p.Thr157Pro) | |
| 11 | g.116835818_116835820dup | CA6289743 | APOA1 | c.794_796dup (p.Asn265_Thr266insAsn) c.728_730dup (p.Asn243_Thr244insAsn) c.467_469dup (p.Asn156_Thr157insAsn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116835817G>A | CA477048462 | APOA1 | c.795C>T (p.Asn265=) c.729C>T (p.Asn243=) c.468C>T (p.Asn156=) | dbSNP |
| 11 | g.116835817G>C | CA382713587 | APOA1 | c.795C>G (p.Asn265Lys) c.729C>G (p.Asn243Lys) c.468C>G (p.Asn156Lys) | |
| 11 | g.116835817G= | CA2002761746 | APOA1 | c.795C= (p.Asn265=) c.729C= (p.Asn243=) c.468C= (p.Asn156=) | |
| 11 | g.116835817G>T | CA382713590 | APOA1 | c.795C>A (p.Asn265Lys) c.729C>A (p.Asn243Lys) c.468C>A (p.Asn156Lys) | gnomAD v4 |
| 11 | g.116835818T>A | CA382713593 | APOA1 | c.794A>T (p.Asn265Ile) c.728A>T (p.Asn243Ile) c.467A>T (p.Asn156Ile) | |
| 11 | g.116835818T>C | CA229323789 | APOA1 | c.794A>G (p.Asn265Ser) c.728A>G (p.Asn243Ser) c.467A>G (p.Asn156Ser) | dbSNP |
| 11 | g.116835818T>G | CA382713600 | APOA1 | c.794A>C (p.Asn265Thr) c.728A>C (p.Asn243Thr) c.467A>C (p.Asn156Thr) | |
| 11 | g.116835818T= | CA2002761747 | APOA1 | c.794A= (p.Asn265=) c.728A= (p.Asn243=) c.467A= (p.Asn156=) | |
| 11 | g.116835819T>A | CA382713602 | APOA1 | c.793A>T (p.Asn265Tyr) c.727A>T (p.Asn243Tyr) c.466A>T (p.Asn156Tyr) | |
| 11 | g.116835819T>C | CA382713603 | APOA1 | c.793A>G (p.Asn265Asp) c.727A>G (p.Asn243Asp) c.466A>G (p.Asn156Asp) | |
| 11 | g.116835819T>G | CA382713604 | APOA1 | c.793A>C (p.Asn265His) c.727A>C (p.Asn243His) c.466A>C (p.Asn156His) | |
| 11 | g.116835820G>A | CA477048509 | APOA1 | c.792C>T (p.Leu264=) c.726C>T (p.Leu242=) c.465C>T (p.Leu155=) | dbSNP gnomAD v4 |
| 11 | g.116835820G>C | CA477048511 | APOA1 | c.792C>G (p.Leu264=) c.726C>G (p.Leu242=) c.465C>G (p.Leu155=) | |
| 11 | g.116835820G= | CA2002761748 | APOA1 | c.792C= (p.Leu264=) c.726C= (p.Leu242=) c.465C= (p.Leu155=) | |
| 11 | g.116835820G>T | CA477048510 | APOA1 | c.792C>A (p.Leu264=) c.726C>A (p.Leu242=) c.465C>A (p.Leu155=) | |
| 11 | g.116835821A>C | CA382713607 | APOA1 | c.791T>G (p.Leu264Arg) c.725T>G (p.Leu242Arg) c.464T>G (p.Leu155Arg) | |
| 11 | g.116835821A>G | CA382713631 | APOA1 | c.791T>C (p.Leu264Pro) c.725T>C (p.Leu242Pro) c.464T>C (p.Leu155Pro) | gnomAD v4 |
| 11 | g.116835821A>T | CA382713634 | APOA1 | c.791T>A (p.Leu264His) c.725T>A (p.Leu242His) c.464T>A (p.Leu155His) | |
| 11 | g.116835822G>A | CA382713658 | APOA1 | c.790C>T (p.Leu264Phe) c.724C>T (p.Leu242Phe) c.463C>T (p.Leu155Phe) | |
| 11 | g.116835822G>C | CA382713649 | APOA1 | c.790C>G (p.Leu264Val) c.724C>G (p.Leu242Val) c.463C>G (p.Leu155Val) | ClinVar |
| 11 | g.116835822G>T | CA382713655 | APOA1 | c.790C>A (p.Leu264Ile) c.724C>A (p.Leu242Ile) c.463C>A (p.Leu155Ile) | |
| 11 | g.116835823C>A | CA382713660 | APOA1 | c.789G>T (p.Lys263Asn) c.723G>T (p.Lys241Asn) c.462G>T (p.Lys154Asn) | ClinVar gnomAD v4 |
| 11 | g.116835823C= | CA2002761749 | APOA1 | c.789G= (p.Lys263=) c.723G= (p.Lys241=) c.462G= (p.Lys154=) | |
| 11 | g.116835823C>G | CA382713661 | APOA1 | c.789G>C (p.Lys263Asn) c.723G>C (p.Lys241Asn) c.462G>C (p.Lys154Asn) | |
| 11 | g.116835823C>T | CA229323792 | APOA1 | c.789G>A (p.Lys263=) c.723G>A (p.Lys241=) c.462G>A (p.Lys154=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116835824T>A | CA382713663 | APOA1 | c.788A>T (p.Lys263Met) c.722A>T (p.Lys241Met) c.461A>T (p.Lys154Met) | |
| 11 | g.116835824T>C | CA382713664 | APOA1 | c.788A>G (p.Lys263Arg) c.722A>G (p.Lys241Arg) c.461A>G (p.Lys154Arg) | |
| 11 | g.116835824T>G | CA382713668 | APOA1 | c.788A>C (p.Lys263Thr) c.722A>C (p.Lys241Thr) c.461A>C (p.Lys154Thr) | |
| 11 | g.116835825T>A | CA382713693 | APOA1 | c.787A>T (p.Lys263Ter) c.721A>T (p.Lys241Ter) c.460A>T (p.Lys154Ter) | |
| 11 | g.116835825T>C | CA382713695 | APOA1 | c.787A>G (p.Lys263Glu) c.721A>G (p.Lys241Glu) c.460A>G (p.Lys154Glu) | |
| 11 | g.116835825T>G | CA382713702 | APOA1 | c.787A>C (p.Lys263Gln) c.721A>C (p.Lys241Gln) c.460A>C (p.Lys154Gln) | |
| 11 | g.116835826C>A | CA382713707 | APOA1 | c.786G>T (p.Lys262Asn) c.720G>T (p.Lys240Asn) c.459G>T (p.Lys153Asn) | |
| 11 | g.116835826C>G | CA382713706 | APOA1 | c.786G>C (p.Lys262Asn) c.720G>C (p.Lys240Asn) c.459G>C (p.Lys153Asn) | |
| 11 | g.116835826C>T | CA477048512 | APOA1 | c.786G>A (p.Lys262=) c.720G>A (p.Lys240=) c.459G>A (p.Lys153=) | COSMIC |
| 11 | g.116835827T>A | CA382713708 | APOA1 | c.785A>T (p.Lys262Met) c.719A>T (p.Lys240Met) c.458A>T (p.Lys153Met) | |
| 11 | g.116835827T>C | CA382713710 | APOA1 | c.785A>G (p.Lys262Arg) c.719A>G (p.Lys240Arg) c.458A>G (p.Lys153Arg) | |
| 11 | g.116835827T>G | CA382713712 | APOA1 | c.785A>C (p.Lys262Thr) c.719A>C (p.Lys240Thr) c.458A>C (p.Lys153Thr) | |
| 11 | g.116835828T>A | CA382713720 | APOA1 | c.784A>T (p.Lys262Ter) c.718A>T (p.Lys240Ter) c.457A>T (p.Lys153Ter) | |
| 11 | g.116835828T>C | CA382713723 | APOA1 | c.784A>G (p.Lys262Glu) c.718A>G (p.Lys240Glu) c.457A>G (p.Lys153Glu) | |
| 11 | g.116835828T>G | CA382713725 | APOA1 | c.784A>C (p.Lys262Gln) c.718A>C (p.Lys240Gln) c.457A>C (p.Lys153Gln) | |
| 11 | g.116835829A>C | CA477048515 | APOA1 | c.783T>G (p.Thr261=) c.717T>G (p.Thr239=) c.456T>G (p.Thr152=) | gnomAD v4 |
| 11 | g.116835829A>G | CA477048514 | APOA1 | c.783T>C (p.Thr261=) c.717T>C (p.Thr239=) c.456T>C (p.Thr152=) | |
| 11 | g.116835829A>T | CA477048513 | APOA1 | c.783T>A (p.Thr261=) c.717T>A (p.Thr239=) c.456T>A (p.Thr152=) | |
| 11 | g.116835830G>A | CA382713727 | APOA1 | c.782C>T (p.Thr261Ile) c.716C>T (p.Thr239Ile) c.455C>T (p.Thr152Ile) | |
| 11 | g.116835830G>C | CA382713730 | APOA1 | c.782C>G (p.Thr261Ser) c.716C>G (p.Thr239Ser) c.455C>G (p.Thr152Ser) | |
| 11 | g.116835830G>T | CA382713729 | APOA1 | c.782C>A (p.Thr261Asn) c.716C>A (p.Thr239Asn) c.455C>A (p.Thr152Asn) | |
| 11 | g.116835831T>A | CA382713731 | APOA1 | c.781A>T (p.Thr261Ser) c.715A>T (p.Thr239Ser) c.454A>T (p.Thr152Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116835831T>C | CA229323813 | APOA1 | c.781A>G (p.Thr261Ala) c.715A>G (p.Thr239Ala) c.454A>G (p.Thr152Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116835831T>G | CA382713732 | APOA1 | c.781A>C (p.Thr261Pro) c.715A>C (p.Thr239Pro) c.454A>C (p.Thr152Pro) | |
| 11 | g.116835831T= | CA2002761750 | APOA1 | c.781A= (p.Thr261=) c.715A= (p.Thr239=) c.454A= (p.Thr152=) | |
| 11 | g.116835832G>A | CA477048516 | APOA1 | c.780C>T (p.Tyr260=) c.714C>T (p.Tyr238=) c.453C>T (p.Tyr151=) | |
| 11 | g.116835832G>C | CA382713733 | APOA1 | c.780C>G (p.Tyr260Ter) c.714C>G (p.Tyr238Ter) c.453C>G (p.Tyr151Ter) | |
| 11 | g.116835832G>T | CA382713734 | APOA1 | c.780C>A (p.Tyr260Ter) c.714C>A (p.Tyr238Ter) c.453C>A (p.Tyr151Ter) | |
| 11 | g.116835833T>A | CA382713738 | APOA1 | c.779A>T (p.Tyr260Phe) c.713A>T (p.Tyr238Phe) c.452A>T (p.Tyr151Phe) | |
| 11 | g.116835833T>C | CA382713740 | APOA1 | c.779A>G (p.Tyr260Cys) c.713A>G (p.Tyr238Cys) c.452A>G (p.Tyr151Cys) | ClinVar gnomAD v4 COSMIC |
| 11 | g.116835833T>G | CA382713742 | APOA1 | c.779A>C (p.Tyr260Ser) c.713A>C (p.Tyr238Ser) c.452A>C (p.Tyr151Ser) | |
| 11 | g.116835834A= | CA2002761752 | APOA1 | c.778T= (p.Tyr260=) c.712T= (p.Tyr238=) c.451T= (p.Tyr151=) | |
| 11 | g.116835834A>C | CA382713748 | APOA1 | c.778T>G (p.Tyr260Asp) c.712T>G (p.Tyr238Asp) c.451T>G (p.Tyr151Asp) | |
| 11 | g.116835834A>G | CA382713750 | APOA1 | c.778T>C (p.Tyr260His) c.712T>C (p.Tyr238His) c.451T>C (p.Tyr151His) | dbSNP |
| 11 | g.116835834A>T | CA382713752 | APOA1 | c.778T>A (p.Tyr260Asn) c.712T>A (p.Tyr238Asn) c.451T>A (p.Tyr151Asn) | |
| 11 | g.116835834_116835837delinsACTC | CA2002761751 | APOA1 | c.775_778delinsGAGT (p.Glu259=) c.709_712delinsGAGT (p.Glu237=) c.448_451delinsGAGT (p.Glu150=) | |
| 11 | g.116835835C>A | CA382713755 | APOA1 | c.777G>T (p.Glu259Asp) c.711G>T (p.Glu237Asp) c.450G>T (p.Glu150Asp) | |
| 11 | g.116835835C= | CA2002761753 | APOA1 | c.777G= (p.Glu259=) c.711G= (p.Glu237=) c.450G= (p.Glu150=) | |
| 11 | g.116835835C>G | CA382713756 | APOA1 | c.777G>C (p.Glu259Asp) c.711G>C (p.Glu237Asp) c.450G>C (p.Glu150Asp) | |
| 11 | g.116835835C>T | CA477048517 | APOA1 | c.777G>A (p.Glu259=) c.711G>A (p.Glu237=) c.450G>A (p.Glu150=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116835838_116835840del | CA602136484 | APOA1 | c.775_777del (p.Glu259del) c.709_711del (p.Glu237del) c.448_450del (p.Glu150del) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116835836T>A | CA382713758 | APOA1 | c.776A>T (p.Glu259Val) c.710A>T (p.Glu237Val) c.449A>T (p.Glu150Val) | |
| 11 | g.116835836T>C | CA382713759 | APOA1 | c.776A>G (p.Glu259Gly) c.710A>G (p.Glu237Gly) c.449A>G (p.Glu150Gly) | |
| 11 | g.116835836T>G | CA382713760 | APOA1 | c.776A>C (p.Glu259Ala) c.710A>C (p.Glu237Ala) c.449A>C (p.Glu150Ala) | |
| 11 | g.116835837C>A | CA382713762 | APOA1 | c.775G>T (p.Glu259Ter) c.709G>T (p.Glu237Ter) c.448G>T (p.Glu150Ter) | dbSNP |
| 11 | g.116835837C= | CA2002761754 | APOA1 | c.775G= (p.Glu259=) c.709G= (p.Glu237=) c.448G= (p.Glu150=) | |
| 11 | g.116835837C>G | CA382713763 | APOA1 | c.775G>C (p.Glu259Gln) c.709G>C (p.Glu237Gln) c.448G>C (p.Glu150Gln) | |
| 11 | g.116835837C>T | CA382713767 | APOA1 | c.775G>A (p.Glu259Lys) c.709G>A (p.Glu237Lys) c.448G>A (p.Glu150Lys) | |
| 11 | g.116835838C>A | CA382713770 | APOA1 | c.774G>T (p.Glu258Asp) c.708G>T (p.Glu236Asp) c.447G>T (p.Glu149Asp) | |
| 11 | g.116835838C= | CA2002761755 | APOA1 | c.774G= (p.Glu258=) c.708G= (p.Glu236=) c.447G= (p.Glu149=) | |
| 11 | g.116835838C>G | CA382713769 | APOA1 | c.774G>C (p.Glu258Asp) c.708G>C (p.Glu236Asp) c.447G>C (p.Glu149Asp) | |
| 11 | g.116835838C>T | CA477048518 | APOA1 | c.774G>A (p.Glu258=) c.708G>A (p.Glu236=) c.447G>A (p.Glu149=) | dbSNP |
| 11 | g.116835839T>A | CA382713773 | APOA1 | c.773A>T (p.Glu258Val) c.707A>T (p.Glu236Val) c.446A>T (p.Glu149Val) | dbSNP |
| 11 | g.116835839T>C | CA382713775 | APOA1 | c.773A>G (p.Glu258Gly) c.707A>G (p.Glu236Gly) c.446A>G (p.Glu149Gly) | gnomAD v4 |
| 11 | g.116835839T>G | CA382713776 | APOA1 | c.773A>C (p.Glu258Ala) c.707A>C (p.Glu236Ala) c.446A>C (p.Glu149Ala) | gnomAD v3 gnomAD v4 |
| 11 | g.116835840C>A | CA382713779 | APOA1 | c.772G>T (p.Glu258Ter) c.706G>T (p.Glu236Ter) c.445G>T (p.Glu149Ter) | |
| 11 | g.116835840C>G | CA382713781 | APOA1 | c.772G>C (p.Glu258Gln) c.706G>C (p.Glu236Gln) c.445G>C (p.Glu149Gln) | ClinVar COSMIC |
| 11 | g.116835840C>T | CA382713785 | APOA1 | c.772G>A (p.Glu258Lys) c.706G>A (p.Glu236Lys) c.445G>A (p.Glu149Lys) | |
| 11 | g.116835841G>A | CA477048519 | APOA1 | c.771C>T (p.Leu257=) c.705C>T (p.Leu235=) c.444C>T (p.Leu148=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116835841G>C | CA477048520 | APOA1 | c.771C>G (p.Leu257=) c.705C>G (p.Leu235=) c.444C>G (p.Leu148=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.116835841G= | CA2002761756 | APOA1 | c.771C= (p.Leu257=) c.705C= (p.Leu235=) c.444C= (p.Leu148=) | |
| 11 | g.116835841G>T | CA477048521 | APOA1 | c.771C>A (p.Leu257=) c.705C>A (p.Leu235=) c.444C>A (p.Leu148=) | |
| 11 | g.116835842A= | CA2002761757 | APOA1 | c.770T= (p.Leu257=) c.704T= (p.Leu235=) c.443T= (p.Leu148=) | |
| 11 | g.116835842A>C | CA382713787 | APOA1 | c.770T>G (p.Leu257Arg) c.704T>G (p.Leu235Arg) c.443T>G (p.Leu148Arg) | |
| 11 | g.116835842A>G | CA382713803 | APOA1 | c.770T>C (p.Leu257Pro) c.704T>C (p.Leu235Pro) c.443T>C (p.Leu148Pro) | dbSNP gnomAD v4 |
| 11 | g.116835842A>T | CA382713789 | APOA1 | c.770T>A (p.Leu257His) c.704T>A (p.Leu235His) c.443T>A (p.Leu148His) | |
| 11 | g.116835843G>A | CA382713805 | APOA1 | c.769C>T (p.Leu257Phe) c.703C>T (p.Leu235Phe) c.442C>T (p.Leu148Phe) | ClinVar gnomAD v4 |
| 11 | g.116835843G>C | CA382713806 | APOA1 | c.769C>G (p.Leu257Val) c.703C>G (p.Leu235Val) c.442C>G (p.Leu148Val) | gnomAD v4 |
| 11 | g.116835843G>T | CA382713807 | APOA1 | c.769C>A (p.Leu257Ile) c.703C>A (p.Leu235Ile) c.442C>A (p.Leu148Ile) | |
| 11 | g.116835844A>C | CA477048522 | APOA1 | c.768T>G (p.Ala256=) c.702T>G (p.Ala234=) c.441T>G (p.Ala147=) | |
| 11 | g.116835844A>G | CA477048523 | APOA1 | c.768T>C (p.Ala256=) c.702T>C (p.Ala234=) c.441T>C (p.Ala147=) | |
| 11 | g.116835844A>T | CA477048524 | APOA1 | c.768T>A (p.Ala256=) c.702T>A (p.Ala234=) c.441T>A (p.Ala147=) | |
| 11 | g.116835845G>A | CA382713809 | APOA1 | c.767C>T (p.Ala256Val) c.701C>T (p.Ala234Val) c.440C>T (p.Ala147Val) | |
| 11 | g.116835845G>C | CA382713815 | APOA1 | c.767C>G (p.Ala256Gly) c.701C>G (p.Ala234Gly) c.440C>G (p.Ala147Gly) | |
| 11 | g.116835845G>T | CA382713818 | APOA1 | c.767C>A (p.Ala256Asp) c.701C>A (p.Ala234Asp) c.440C>A (p.Ala147Asp) | |
| 11 | g.116835846C>A | CA382713824 | APOA1 | c.766G>T (p.Ala256Ser) c.700G>T (p.Ala234Ser) c.439G>T (p.Ala147Ser) | COSMIC |
| 11 | g.116835846C= | CA2002761758 | APOA1 | c.766G= (p.Ala256=) c.700G= (p.Ala234=) c.439G= (p.Ala147=) | |
| 11 | g.116835846C>G | CA382713835 | APOA1 | c.766G>C (p.Ala256Pro) c.700G>C (p.Ala234Pro) c.439G>C (p.Ala147Pro) | gnomAD v4 |
| 11 | g.116835846C>T | CA6289744 | APOA1 | c.766G>A (p.Ala256Thr) c.700G>A (p.Ala234Thr) c.439G>A (p.Ala147Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116835847G>A | CA477048525 | APOA1 | c.765C>T (p.Ser255=) c.699C>T (p.Ser233=) c.438C>T (p.Ser146=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116835847G>C | CA382713836 | APOA1 | c.765C>G (p.Ser255Arg) c.699C>G (p.Ser233Arg) c.438C>G (p.Ser146Arg) | |
| 11 | g.116835847G= | CA2002761759 | APOA1 | c.765C= (p.Ser255=) c.699C= (p.Ser233=) c.438C= (p.Ser146=) | |
| 11 | g.116835847G>T | CA382713839 | APOA1 | c.765C>A (p.Ser255Arg) c.699C>A (p.Ser233Arg) c.438C>A (p.Ser146Arg) | |
| 11 | g.116835848C>A | CA382713848 | APOA1 | c.764G>T (p.Ser255Ile) c.698G>T (p.Ser233Ile) c.437G>T (p.Ser146Ile) | |
| 11 | g.116835848C>G | CA382713852 | APOA1 | c.764G>C (p.Ser255Thr) c.698G>C (p.Ser233Thr) c.437G>C (p.Ser146Thr) | |
| 11 | g.116835848C>T | CA382713850 | APOA1 | c.764G>A (p.Ser255Asn) c.698G>A (p.Ser233Asn) c.437G>A (p.Ser146Asn) | |
| 11 | g.116835849T>A | CA382713853 | APOA1 | c.763A>T (p.Ser255Cys) c.697A>T (p.Ser233Cys) c.436A>T (p.Ser146Cys) | |
| 11 | g.116835849T>C | CA382713855 | APOA1 | c.763A>G (p.Ser255Gly) c.697A>G (p.Ser233Gly) c.436A>G (p.Ser146Gly) | |
| 11 | g.116835849T>G | CA229323815 | APOA1 | c.763A>C (p.Ser255Arg) c.697A>C (p.Ser233Arg) c.436A>C (p.Ser146Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116835849T= | CA2002761760 | APOA1 | c.763A= (p.Ser255=) c.697A= (p.Ser233=) c.436A= (p.Ser146=) | |
| 11 | g.116835850C>A | CA477048526 | APOA1 | c.762G>T (p.Leu254=) c.696G>T (p.Leu232=) c.435G>T (p.Leu145=) | |
| 11 | g.116835850C>G | CA477048528 | APOA1 | c.762G>C (p.Leu254=) c.696G>C (p.Leu232=) c.435G>C (p.Leu145=) | gnomAD v4 |
| 11 | g.116835850C>T | CA477048527 | APOA1 | c.762G>A (p.Leu254=) c.696G>A (p.Leu232=) c.435G>A (p.Leu145=) | |
| 11 | g.116835851A= | CA2002761761 | APOA1 | c.761T= (p.Leu254=) c.695T= (p.Leu232=) c.434T= (p.Leu145=) | |
| 11 | g.116835851A>C | CA6289745 | APOA1 | c.761T>G (p.Leu254Arg) c.695T>G (p.Leu232Arg) c.434T>G (p.Leu145Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116835851A>G | CA382713864 | APOA1 | c.761T>C (p.Leu254Pro) c.695T>C (p.Leu232Pro) c.434T>C (p.Leu145Pro) | |
| 11 | g.116835851A>T | CA382713860 | APOA1 | c.761T>A (p.Leu254Gln) c.695T>A (p.Leu232Gln) c.434T>A (p.Leu145Gln) | |
| 11 | g.116835852G>A | CA477048529 | APOA1 | c.760C>T (p.Leu254=) c.694C>T (p.Leu232=) c.433C>T (p.Leu145=) | ClinVar gnomAD v4 |
| 11 | g.116835852G>C | CA382713866 | APOA1 | c.760C>G (p.Leu254Val) c.694C>G (p.Leu232Val) c.433C>G (p.Leu145Val) | |
| 11 | g.116835852G>T | CA382713868 | APOA1 | c.760C>A (p.Leu254Met) c.694C>A (p.Leu232Met) c.433C>A (p.Leu145Met) | |
| 11 | g.116835853G>A | CA477048530 | APOA1 | c.759C>T (p.Phe253=) c.693C>T (p.Phe231=) c.432C>T (p.Phe144=) | gnomAD v4 |
| 11 | g.116835853G>C | CA382713882 | APOA1 | c.759C>G (p.Phe253Leu) c.693C>G (p.Phe231Leu) c.432C>G (p.Phe144Leu) | |
| 11 | g.116835853G>T | CA382713885 | APOA1 | c.759C>A (p.Phe253Leu) c.693C>A (p.Phe231Leu) c.432C>A (p.Phe144Leu) | |
| 11 | g.116835854A>C | CA382713888 | APOA1 | c.758T>G (p.Phe253Cys) c.692T>G (p.Phe231Cys) c.431T>G (p.Phe144Cys) | |
| 11 | g.116835854A>G | CA382713891 | APOA1 | c.758T>C (p.Phe253Ser) c.692T>C (p.Phe231Ser) c.431T>C (p.Phe144Ser) | |
| 11 | g.116835854A>T | CA382713900 | APOA1 | c.758T>A (p.Phe253Tyr) c.692T>A (p.Phe231Tyr) c.431T>A (p.Phe144Tyr) | |
| 11 | g.116835854_116835892delinsAAGCTGACCTTGAAGCTCTCCAGCACGGGCAGCAGGCCT | CA2002761762 | APOA1 | c.720_758delinsAGGCCTGCTGCCCGTGCTGGAGAGCTTCAAGGTCAGCTT (p.Gln240=) c.654_692delinsAGGCCTGCTGCCCGTGCTGGAGAGCTTCAAGGTCAGCTT (p.Gln218=) c.393_431delinsAGGCCTGCTGCCCGTGCTGGAGAGCTTCAAGGTCAGCTT (p.Gln131=) | |
| 11 | g.116835855A= | CA2002761763 | APOA1 | c.757T= (p.Phe253=) c.691T= (p.Phe231=) c.430T= (p.Phe144=) | |
| 11 | g.116835855A>C | CA382713901 | APOA1 | c.757T>G (p.Phe253Val) c.691T>G (p.Phe231Val) c.430T>G (p.Phe144Val) | |
| 11 | g.116835855A>G | CA382713902 | APOA1 | c.757T>C (p.Phe253Leu) c.691T>C (p.Phe231Leu) c.430T>C (p.Phe144Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116835855A>T | CA382713904 | APOA1 | c.757T>A (p.Phe253Ile) c.691T>A (p.Phe231Ile) c.430T>A (p.Phe144Ile) | gnomAD v4 |
| 11 | g.116835855_116835892del | CA918975668 | APOA1 | c.720_757del (p.Gln240HisfsTer10) c.654_691del (p.Gln218HisfsTer10) c.393_430del (p.Gln131HisfsTer10) | dbSNP gnomAD v4 |
| 11 | g.116835856G>A | CA477048531 | APOA1 | c.756C>T (p.Ser252=) c.690C>T (p.Ser230=) c.429C>T (p.Ser143=) | |
| 11 | g.116835856G>C | CA382713907 | APOA1 | c.756C>G (p.Ser252Arg) c.690C>G (p.Ser230Arg) c.429C>G (p.Ser143Arg) | |
| 11 | g.116835856G>T | CA382713908 | APOA1 | c.756C>A (p.Ser252Arg) c.690C>A (p.Ser230Arg) c.429C>A (p.Ser143Arg) | |
| 11 | g.116835857C>A | CA382713911 | APOA1 | c.755G>T (p.Ser252Ile) c.689G>T (p.Ser230Ile) c.428G>T (p.Ser143Ile) | |
| 11 | g.116835857C>G | CA382713916 | APOA1 | c.755G>C (p.Ser252Thr) c.689G>C (p.Ser230Thr) c.428G>C (p.Ser143Thr) | |
| 11 | g.116835857C>T | CA382713914 | APOA1 | c.755G>A (p.Ser252Asn) c.689G>A (p.Ser230Asn) c.428G>A (p.Ser143Asn) | |
| 11 | g.116835858T>A | CA382713919 | APOA1 | c.754A>T (p.Ser252Cys) c.688A>T (p.Ser230Cys) c.427A>T (p.Ser143Cys) | |
| 11 | g.116835858T>C | CA382713921 | APOA1 | c.754A>G (p.Ser252Gly) c.688A>G (p.Ser230Gly) c.427A>G (p.Ser143Gly) | |
| 11 | g.116835858T>G | CA382713924 | APOA1 | c.754A>C (p.Ser252Arg) c.688A>C (p.Ser230Arg) c.427A>C (p.Ser143Arg) | |
| 11 | g.116835859G>A | CA477048532 | APOA1 | c.753C>T (p.Val251=) c.687C>T (p.Val229=) c.426C>T (p.Val142=) | |
| 11 | g.116835859G>C | CA477048533 | APOA1 | c.753C>G (p.Val251=) c.687C>G (p.Val229=) c.426C>G (p.Val142=) | |
| 11 | g.116835859G>T | CA477048534 | APOA1 | c.753C>A (p.Val251=) c.687C>A (p.Val229=) c.426C>A (p.Val142=) |