| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.116830247_116836307delinsAGACAGAGGGCCTGAGGCAGGAGATGAGCAAGGATCTGGAGGAGGTGAAGGCCAAGGTGCAGCCCTACCTGGACGACTTCCAGAAGAAGTGGCAGGAGGAGATGGAGCTCTACCGCCAGAAGGTGGAGCCGCTGCGCGCAGAGCTCCAAGAGGGCGCGCGCCAGAAGCTGCACGAGCTGCAAGAGAAGCTGAGCCCACTGGGCGAGGAGATGCGCGACCGCGCGCGCGCCCATGTGGACGCGCTGCGCACGCATCTGGCCCCCTACAGCGACGAGCTGCGCCAGCGCTTGGCCGCGCGCCTTGAGGCTCTCAAGGAGAACGGCGGCGCCAGACTGGCCGAGTACCACGCCAAGGCCACCGAGCATCTGAGCACGCTCAGCGAGAAGGCCAAGCCCGCGCTCGAGGACCTCCGCCAAGGCCTGCTGCCCGTGCTGGAGAGCTTCAAGGTCAGCTTCCTGAGCGCTCTCGAGGAGTACACTAAGAAGCTCAACACCCAGTGAGGCGCCCGCCGCCGCCCCCCTTCCCGGTGCTCAGAATAAACGTTTCCAAAGTGGGAAGCAGCTTCTTTCTTTTGGGAGAATAGAGGGGGGTGCGGGGACATCCGGGGGAGCCCGGGTGGGGCCTTTGGCCCTGGAGCAGGGACTTCCTGCCGGATCTCAACAACTCCGTGCCCAGACTGGACGTCTTAGGGCCAAGATCGACGTTGGAGGACCTGCTGGACGCCTGGCTGCTTACGAGTGAGGGAGTAGAGTCTGCCTTAGCAAGGCTCAAGTAGAAAGGAAGTCACAGCGGACCAGGCAAAGCCACAGACAATCCAAGGCCAGGTGCCCTGAAAGGGGCTCAAACAAGGCCTGCAGCCCTGTCTGAGGCGGGCCAGGAAACAGGGTTGCTTTAGCTGGGAGCAGTGGGTTCCCCGTCCCCAGAGGTGTGTCCGTATAGAGCCTTCTCCAGCCCAGCCGCTGTCAGCGGGGCGGGACGGAGCGGGGCGGCCTCAGGGAGCCAGCCACTGGGATTGGGGTTTGGTCCCGGGTGCAAGTGAAGCGCTTGGAGTTTGCGCCTGTCCTCCTTTACTAATTCAAAAACCTCTCAAACAGACACTTCCCTTTTCTTCTCACAAGGCCAGTATCCCCCTCCCACTACTCCCATCCCGCCCAGAAACAGCCGCGGCTTCCTCAGGCACAGCAGTGGAAGCCAGTCCTCCACCCCCTGCGGCTCCATGCCATGCCACCCCCTCTTTCTGCCAGCCCTGGCAGAAGCTGGCCTGAGTAAGAAAATTCACCACCACCTCTTGCAGGTACATTTTTATTTCCAAGATGCTCTCATATCTGTGCTCTCACTGCATCCTCCCTTCCCCACATCCTGGCTAGATTGCCATCAGACGCAGAGCATGGATGAGGACACTGAAGCCTGGACCTGTGACGTCGCTTGCCCAGTGAACAGCAGGATGGGCTAGGCCGCGCTTTTTAGACCCTGCACCCCTGGCCATCCATGATTATTGAAAAGAGTGCGCGGGTCGGGTGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGTATCACTTCAGGCCAGGAGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATCAGCTGGGCATGGTGGCTTGCACCCGTAATCCCAGCTACTAGGAAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTCACAGTGAGCCGAAATCATGCCACTGCACTCCAGCCTGGGCGACGGAGCAAGACTCCAGCTAAAAAAAAAAAAAAAAAAAAAAGAGTGTGTGGCCTGGCACTCAAGTTCACATGGGTGTGCAGGCATGCCTGTGTATTCTCACATGACCTCCCTGCTCACGGTCCCTCCTTGCACTCATGTCTGAATGTCCCCGCGTGCACGCACATGGCTTCACAGATCTGGGCAGTGCCTTCCCTACCCTCTCTCTGCAGGGCCTTTTGCCCCCTCATGCAGGCCCCTGGATAATCGGCCCCATCCCCATGTCCCCATCTCCAGTGTATCTTAGCTACCCTAGGTAAAGGAGTGGGCTTTTTAGTTCCTAACCTTCCAGAGCTACAACAGCAGTCATCCAGCCAGGTCTGGGTGGGAACATTTTCTAGATACGGGTGCTGAGATCTCTCAGCCCAGAGAGAAGCCCTGGGGAATTTTCAGAGAGAAAGCAGTCTCCAGGTGGGGCTGGATGTACTGATGCCACTGAGATCTGTAAAGGAGTCCCTAACACCTGACATAGGAGTGACAAAACTGTTTTCTGCACCAACTGAGCAGAATACACGCAGCTGACCTGGGCTCAAGGTCTGGCCCTGCCACGTGCTGGCTCTGTGATGCTGGCCAAGTGCCTTCGCCTCTCCGGGCCACAGTTTTTTGATCTGAAGAGTGGAGCCCTACTCAAGCCATCTGCAGCTCTCGGGCTCTCTGACCTGACATCTTTCGGGTGGTGGGGACACAAAGGAAGCAGCCTCTATTGGGAGACCTTGTGCTTCTTTTTGGTCCCAGGACACTGCCCCCCACCACTCCAGTCCGGGTCCCAAGGGCCCAGTCAGCTCAACTGTAATCATGACAACATTGATCAAGCATCTTTACGTGCAGGTGCTGTGCCAAACGGTTCGAACGCTCTCTCATTTCAATCTCACGGCAAACCTACGGTGGAGGGGGTACGGTTGTATCCACTTTACATGTAAGAAACTGAGGCTGATATCAAGTGGTGGAGCCAAGAATAGTGCCTCGTTGCATCTTACTCCAACCTCTAGCCCATCCGGCCTCCTCCCTTCACGTGCGCCTAAGAGGGCTAGGGGGCCTGGATAGGGGAGGTCAGCTCCACAGTTTTGAGTAAACACACACAGTCTCAACTCTGATGACAACTTAAGTGCCAGGCATAGTGGCTGGCATGGGGCACACACTCAAGTCATGTTGTGCAGCACCTAACAGTTTATCAAAGTATCAGCAAACTTATTGTCCTGTTTGACCTTCCGCACAAAGCTGTCAAGGAAGGCAGGGTACGGAGGGTGATTCCTACCTTAGAGATGAAGAAACTGAGGCCCAGAGACTGCCCAGCTACCAGAAGGTGGATAGAGCGCTGGCCTCCATGCCTGCCTGACCTGGAGTCTGTCCAGTGCCCACCCACAGAACAGCCTCGGCCCTTTCCCATGCCCAGACACAGATGGCACACTTGCGACGGCCCACTCATAGCAGCTTCTTGTCCAGCTTTATTGGGAGGCCAGCATGCCTGGAGGGGGGCCAGGCATGAGGTGGGGTAGGAGAGCACTGAGAATACTGTCCCTTTTAAGCAACCTACAGGGGCAGCCCTGGAGATTGCAGGACCCAAGGAGCTCGCAGGATGGATAGGCAGGTGGACTTGGGGTATTGAGGTCTCAGGCAGCCACGGCTGAAGTTGGTCTGACCTCAGGGTCCAAATCCCAGAACTCAGAGAACTTGTCCTTAACGGTGCTCCAGTAGTCTTTCAGGGAACTGAAGCCATCGGTCACCCAGCCCCTAAATCAGTCAGGGGAAGCAACAGAGCAGGGCATGAGAACTCCTCTGTAGGCAACCATGGGACCCACACCCATGTCCCCACTGGACGACACCAGTCAGGACCACACCACCCTCTCAACTTCACTGGACGACAGCCCTGAGACCTCAGGCAGGAATCCCCCACAGCTGCCACCCTGGGAGAAGAGATATCCTTGCAGGAACCCCAGCACAAGTCAAACCCTGCCATCTCCAGGTCACCTCAGATGTTTATGCCCCTGGGCCTGAGGCACAAAGTGACAGGGTGGGGAGATGTGAAAGGTCAAGGCTGTCATTGTTTTCTGTGCAAACAGCACCGCCTGGAGTTGCACAACCTGGTGGCTCTGAGCAGGGTAGGACAGAGGGAGGCAGCCTCTCATTTGGAAAGTCATTGGAGGATTGATTAGTTGTGTGATCTGGGGCAGGTCACCTAATCGCTCTGAGCCTCAATTTTCTCATCTGCAAAGTGAGAAAATAACACCTACCCCAAAGCCGGTTCTGGGGACTAAGAATGTTTATGAACACCTCTGCTATGCCAGCTAATGCCAGTCAGGGTGAGGTGGAGAAGGGAGTAGGGGAGAGGAGAGTACTGATGGGCAGGGGCAGGATGGGAGAGGAAGGACACACTTCTGCTCACACTGGCCCCAGGTCTTAGAACAAAGCAGAAGCACTCACGGGCTTGAATTGGGTCAGGTGGGGCCTCCCAAGGCAAACCCCTAGCCCAGGGGTCCCCAACCCCCAAGTCATAGATAGGTACTGGTCCATGGACTGTTAGGAGCCGGGCTGCACAGCACGAAGTGAGTGGTGGGTGAGTGAGCAATACCGCCTGAGCTCCGCCTCCTGTCAGATCAAGTGGCCTTACATTCTCATAGGAGTGTGAACCCTATTGTGAACTGCACATGCCAGGGATCTAGGTGGAGGGCTCCTTATGAGAATCTAATGCCTGATGATCTGAGGTGGAACAGCTTCATCCCAAAACCATCCCCGCTGGCCCATGGAAAAATTGTCCACCACAAAACTGGTCCCTGGTGCCAAAAAGGCTGAGGACCACTGCTCTAGCCAGACCTTCAGAAAAGGAAAATGGGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCCCCTGAGGTCAGGAATTCAAGACCAACCTGGCCAACATGGTGAAACCCCATCTCTGCTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGGTTGAACCCGGGAGACGGAGGTTGCAGTGAGCCGAGATGGCACCACTGCACTCCAGCCTAGGTGACAGAGGGAGACTCCATTAAAAAAAAAAGAAGAAGAAAGAAAGAGAGAAAGGAAGAGAGGGAAAGAAAGAAAAAGGAAAGAAAGAAAGAAAGAGAAAGAAAGGAAAGAAAGAAAGAAAGGAAAGAAAGAAAGGAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAATAGAAAGAGAAAGAAAGGGAAAGGAAAGGAAAATGGAAATGAGGGCTAAAACGGCACGCCCTAGGACTGCTCCGGGGAGAAAGGAGGGACCTGGGAGGAATGCAGTCTCAACTCTGTCATCTCTCCCGCAGCAGCCTGACAAAGGCCCTGTGAGGAAAGAGGAGGCTGAAGAGGCACAGGCCCAGGGGAGGCTGGAGCACCTCCATTCCATTGTTGGGATCTCACCAGGGCAGGGGCGGGTGGGAATGGAGGCAGCTGGCAGGGGGGATGGGGAGGGAGGCCAGCGGGTGTACCTGGCCTGCTGGGCCACCTGGGACTCCTGCACGCTGCTCAGTGCATCCTTGGCGGTCTTGGTGGCGTGCTTCATGTAACCCTGCATGAAGCTGAGAAGGGAGGCATCCTCGGCCTCTGAAGCTCCTGAGGAAAGAGCAGGGCTGAGTGGGGTGGATCGGCCTCTGGACGAGCCCTGGGCTCCTGCTTGACCACCCATTGGGACTGGGATCCCCAAGTTGCCTCCACCCTGCCCCCAGCCCAGTCCCACCAAGTGCTTACGGGCAGAGGCCAGGAGCGCCAGGAGGGCAACAACAAGGAGTACCCGGGGCTGCATGGCACCTCTGTTCCTGCAAGGAAGTGTCCTGTGAGGGGCACCCCAGGTCCCCATGCCTCTGGACCCCTCCCTGGGGAGGTGGCGTGGCCCCTAAGGTAGAACCTTAGCTGGGTCTGCCAGAAGGAGTAGGGGCCGGCTCCCTGCTAATACGGGCTCTCAGAAGGGGGACTGGTGAGGGGCGAGGGATCGAGGCCCAAAGGGAGGTGGGTGGGATGGAGCAGAAAACCCACCAGACTGAACATCAAGGCACCTGCGGTCTGGACTGATCTCCGTCCAGTCCAGCCAACATGCTGTGTGTCTTTGGGTGATTTCTGGCCCTCTCCAGGCCTCAGTTTC | CA2697558960 | ClinVar | ||
| 11 | g.116836112G>A | CA382715467 | APOA1 | c.500C>T (p.Pro167Leu) c.434C>T (p.Pro145Leu) c.173C>T (p.Pro58Leu) | |
| 11 | g.116836112G>C | CA127540 | APOA1 | c.500C>G (p.Pro167Arg) c.434C>G (p.Pro145Arg) c.173C>G (p.Pro58Arg) | ClinVar dbSNP ExAC gnomAD v4 |
| 11 | g.116836112G= | CA2002761904 | APOA1 | c.500C= (p.Pro167=) c.434C= (p.Pro145=) c.173C= (p.Pro58=) | |
| 11 | g.116836112G>T | CA382715472 | APOA1 | c.500C>A (p.Pro167Gln) c.434C>A (p.Pro145Gln) c.173C>A (p.Pro58Gln) | |
| 11 | g.116836113G>A | CA382715474 | APOA1 | c.499C>T (p.Pro167Ser) c.433C>T (p.Pro145Ser) c.172C>T (p.Pro58Ser) | |
| 11 | g.116836113G>C | CA382715477 | APOA1 | c.499C>G (p.Pro167Ala) c.433C>G (p.Pro145Ala) c.172C>G (p.Pro58Ala) | |
| 11 | g.116836113G>T | CA382715480 | APOA1 | c.499C>A (p.Pro167Thr) c.433C>A (p.Pro145Thr) c.172C>A (p.Pro58Thr) | |
| 11 | g.116836114G>A | CA477048709 | APOA1 | c.498C>T (p.Ser166=) c.432C>T (p.Ser144=) c.171C>T (p.Ser57=) | |
| 11 | g.116836114G>C | CA382715483 | APOA1 | c.498C>G (p.Ser166Arg) c.432C>G (p.Ser144Arg) c.171C>G (p.Ser57Arg) | |
| 11 | g.116836114G= | CA2002761905 | APOA1 | c.498C= (p.Ser166=) c.432C= (p.Ser144=) c.171C= (p.Ser57=) | |
| 11 | g.116836114G>T | CA6289795 | APOA1 | c.498C>A (p.Ser166Arg) c.432C>A (p.Ser144Arg) c.171C>A (p.Ser57Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116836115C>A | CA382715488 | APOA1 | c.497G>T (p.Ser166Ile) c.431G>T (p.Ser144Ile) c.170G>T (p.Ser57Ile) | |
| 11 | g.116836115C= | CA2002761906 | APOA1 | c.497G= (p.Ser166=) c.431G= (p.Ser144=) c.170G= (p.Ser57=) | |
| 11 | g.116836115C>G | CA382715489 | APOA1 | c.497G>C (p.Ser166Thr) c.431G>C (p.Ser144Thr) c.170G>C (p.Ser57Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116836115C>T | CA382715491 | APOA1 | c.497G>A (p.Ser166Asn) c.431G>A (p.Ser144Asn) c.170G>A (p.Ser57Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116836116T>A | CA382715494 | APOA1 | c.496A>T (p.Ser166Cys) c.430A>T (p.Ser144Cys) c.169A>T (p.Ser57Cys) | |
| 11 | g.116836116T>C | CA382715500 | APOA1 | c.496A>G (p.Ser166Gly) c.430A>G (p.Ser144Gly) c.169A>G (p.Ser57Gly) | ClinVar gnomAD v4 |
| 11 | g.116836116T>G | CA382715497 | APOA1 | c.496A>C (p.Ser166Arg) c.430A>C (p.Ser144Arg) c.169A>C (p.Ser57Arg) | |
| 11 | g.116836117C>A | CA477048710 | APOA1,APOA1-AS | c.495G>T (p.Leu165=) c.429G>T (p.Leu143=) n.1C>A c.168G>T (p.Leu56=) | |
| 11 | g.116836117C= | CA2002761907 | APOA1,APOA1-AS | c.495G= (p.Leu165=) c.429G= (p.Leu143=) n.1C= c.168G= (p.Leu56=) | |
| 11 | g.116836117C>G | CA477048711 | APOA1,APOA1-AS | c.495G>C (p.Leu165=) c.429G>C (p.Leu143=) n.1C>G c.168G>C (p.Leu56=) | dbSNP |
| 11 | g.116836117C>T | CA477048712 | APOA1,APOA1-AS | c.495G>A (p.Leu165=) c.429G>A (p.Leu143=) n.1C>T c.168G>A (p.Leu56=) | |
| 11 | g.116836118A= | CA2002761908 | APOA1,APOA1-AS | c.494T= (p.Leu165=) c.428T= (p.Leu143=) n.2A= c.167T= (p.Leu56=) | |
| 11 | g.116836118A>C | CA6289796 | APOA1,APOA1-AS | c.494T>G (p.Leu165Arg) c.428T>G (p.Leu143Arg) n.2A>C c.167T>G (p.Leu56Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116836118A>G | CA382715505 | APOA1,APOA1-AS | c.494T>C (p.Leu165Pro) c.428T>C (p.Leu143Pro) n.2A>G c.167T>C (p.Leu56Pro) | ClinVar gnomAD v4 |
| 11 | g.116836118A>T | CA382715507 | APOA1,APOA1-AS | c.494T>A (p.Leu165Gln) c.428T>A (p.Leu143Gln) n.2A>T c.167T>A (p.Leu56Gln) | |
| 11 | g.116836119G>A | CA477048713 | APOA1,APOA1-AS | c.493C>T (p.Leu165=) c.427C>T (p.Leu143=) n.3G>A c.166C>T (p.Leu56=) | gnomAD v4 |
| 11 | g.116836119G>C | CA382715510 | APOA1,APOA1-AS | c.493C>G (p.Leu165Val) c.427C>G (p.Leu143Val) n.3G>C c.166C>G (p.Leu56Val) | |
| 11 | g.116836119G>T | CA382715512 | APOA1,APOA1-AS | c.493C>A (p.Leu165Met) c.427C>A (p.Leu143Met) n.3G>T c.166C>A (p.Leu56Met) | gnomAD v4 |
| 11 | g.116836120C>A | CA382715514 | APOA1,APOA1-AS | c.492G>T (p.Lys164Asn) c.426G>T (p.Lys142Asn) n.4C>A c.165G>T (p.Lys55Asn) | gnomAD v4 |
| 11 | g.116836120C= | CA2002761909 | APOA1,APOA1-AS | c.492G= (p.Lys164=) c.426G= (p.Lys142=) n.4C= c.165G= (p.Lys55=) | |
| 11 | g.116836120C>G | CA6289797 | APOA1,APOA1-AS | c.492G>C (p.Lys164Asn) c.426G>C (p.Lys142Asn) n.4C>G c.165G>C (p.Lys55Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116836120C>T | CA229324250 | APOA1,APOA1-AS | c.492G>A (p.Lys164=) c.426G>A (p.Lys142=) n.4C>T c.165G>A (p.Lys55=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116836121T>A | CA382715521 | APOA1,APOA1-AS | c.491A>T (p.Lys164Met) c.425A>T (p.Lys142Met) n.5T>A c.164A>T (p.Lys55Met) | |
| 11 | g.116836121T>C | CA382715522 | APOA1,APOA1-AS | c.491A>G (p.Lys164Arg) c.425A>G (p.Lys142Arg) n.5T>C c.164A>G (p.Lys55Arg) | ClinVar |
| 11 | g.116836121T>G | CA382715526 | APOA1,APOA1-AS | c.491A>C (p.Lys164Thr) c.425A>C (p.Lys142Thr) n.5T>G c.164A>C (p.Lys55Thr) | |
| 11 | g.116836122T>A | CA382715531 | APOA1,APOA1-AS | c.490A>T (p.Lys164Ter) c.424A>T (p.Lys142Ter) n.6T>A c.163A>T (p.Lys55Ter) | gnomAD v4 |
| 11 | g.116836122T>C | CA382715534 | APOA1,APOA1-AS | c.490A>G (p.Lys164Glu) c.424A>G (p.Lys142Glu) n.6T>C c.163A>G (p.Lys55Glu) | gnomAD v4 |
| 11 | g.116836122T>G | CA382715528 | APOA1,APOA1-AS | c.490A>C (p.Lys164Gln) c.424A>C (p.Lys142Gln) n.6T>G c.163A>C (p.Lys55Gln) | |
| 11 | g.116836123C>A | CA382715537 | APOA1,APOA1-AS | c.489G>T (p.Glu163Asp) c.423G>T (p.Glu141Asp) n.7C>A c.162G>T (p.Glu54Asp) | |
| 11 | g.116836123C>G | CA382715538 | APOA1,APOA1-AS | c.489G>C (p.Glu163Asp) c.423G>C (p.Glu141Asp) n.7C>G c.162G>C (p.Glu54Asp) | ClinVar |
| 11 | g.116836123C>T | CA477048714 | APOA1,APOA1-AS | c.489G>A (p.Glu163=) c.423G>A (p.Glu141=) n.7C>T c.162G>A (p.Glu54=) | ClinVar |
| 11 | g.116836124T>A | CA382715542 | APOA1,APOA1-AS | c.488A>T (p.Glu163Val) c.422A>T (p.Glu141Val) n.8T>A c.161A>T (p.Glu54Val) | |
| 11 | g.116836124T>C | CA6289798 | APOA1,APOA1-AS | c.488A>G (p.Glu163Gly) c.422A>G (p.Glu141Gly) n.8T>C c.161A>G (p.Glu54Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116836124T>G | CA382715547 | APOA1,APOA1-AS | c.488A>C (p.Glu163Ala) c.422A>C (p.Glu141Ala) n.8T>G c.161A>C (p.Glu54Ala) | |
| 11 | g.116836124T= | CA2002761910 | APOA1,APOA1-AS | c.488A= (p.Glu163=) c.422A= (p.Glu141=) n.8T= c.161A= (p.Glu54=) | |
| 11 | g.116836125C>A | CA382715554 | APOA1,APOA1-AS | c.487G>T (p.Glu163Ter) c.421G>T (p.Glu141Ter) n.9C>A c.160G>T (p.Glu54Ter) | |
| 11 | g.116836125C= | CA2002761911 | APOA1,APOA1-AS | c.487G= (p.Glu163=) c.421G= (p.Glu141=) n.9C= c.160G= (p.Glu54=) | |
| 11 | g.116836125C>G | CA382715557 | APOA1,APOA1-AS | c.487G>C (p.Glu163Gln) c.421G>C (p.Glu141Gln) n.9C>G c.160G>C (p.Glu54Gln) |