| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.116830247_116836307delinsAGACAGAGGGCCTGAGGCAGGAGATGAGCAAGGATCTGGAGGAGGTGAAGGCCAAGGTGCAGCCCTACCTGGACGACTTCCAGAAGAAGTGGCAGGAGGAGATGGAGCTCTACCGCCAGAAGGTGGAGCCGCTGCGCGCAGAGCTCCAAGAGGGCGCGCGCCAGAAGCTGCACGAGCTGCAAGAGAAGCTGAGCCCACTGGGCGAGGAGATGCGCGACCGCGCGCGCGCCCATGTGGACGCGCTGCGCACGCATCTGGCCCCCTACAGCGACGAGCTGCGCCAGCGCTTGGCCGCGCGCCTTGAGGCTCTCAAGGAGAACGGCGGCGCCAGACTGGCCGAGTACCACGCCAAGGCCACCGAGCATCTGAGCACGCTCAGCGAGAAGGCCAAGCCCGCGCTCGAGGACCTCCGCCAAGGCCTGCTGCCCGTGCTGGAGAGCTTCAAGGTCAGCTTCCTGAGCGCTCTCGAGGAGTACACTAAGAAGCTCAACACCCAGTGAGGCGCCCGCCGCCGCCCCCCTTCCCGGTGCTCAGAATAAACGTTTCCAAAGTGGGAAGCAGCTTCTTTCTTTTGGGAGAATAGAGGGGGGTGCGGGGACATCCGGGGGAGCCCGGGTGGGGCCTTTGGCCCTGGAGCAGGGACTTCCTGCCGGATCTCAACAACTCCGTGCCCAGACTGGACGTCTTAGGGCCAAGATCGACGTTGGAGGACCTGCTGGACGCCTGGCTGCTTACGAGTGAGGGAGTAGAGTCTGCCTTAGCAAGGCTCAAGTAGAAAGGAAGTCACAGCGGACCAGGCAAAGCCACAGACAATCCAAGGCCAGGTGCCCTGAAAGGGGCTCAAACAAGGCCTGCAGCCCTGTCTGAGGCGGGCCAGGAAACAGGGTTGCTTTAGCTGGGAGCAGTGGGTTCCCCGTCCCCAGAGGTGTGTCCGTATAGAGCCTTCTCCAGCCCAGCCGCTGTCAGCGGGGCGGGACGGAGCGGGGCGGCCTCAGGGAGCCAGCCACTGGGATTGGGGTTTGGTCCCGGGTGCAAGTGAAGCGCTTGGAGTTTGCGCCTGTCCTCCTTTACTAATTCAAAAACCTCTCAAACAGACACTTCCCTTTTCTTCTCACAAGGCCAGTATCCCCCTCCCACTACTCCCATCCCGCCCAGAAACAGCCGCGGCTTCCTCAGGCACAGCAGTGGAAGCCAGTCCTCCACCCCCTGCGGCTCCATGCCATGCCACCCCCTCTTTCTGCCAGCCCTGGCAGAAGCTGGCCTGAGTAAGAAAATTCACCACCACCTCTTGCAGGTACATTTTTATTTCCAAGATGCTCTCATATCTGTGCTCTCACTGCATCCTCCCTTCCCCACATCCTGGCTAGATTGCCATCAGACGCAGAGCATGGATGAGGACACTGAAGCCTGGACCTGTGACGTCGCTTGCCCAGTGAACAGCAGGATGGGCTAGGCCGCGCTTTTTAGACCCTGCACCCCTGGCCATCCATGATTATTGAAAAGAGTGCGCGGGTCGGGTGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGTATCACTTCAGGCCAGGAGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATCAGCTGGGCATGGTGGCTTGCACCCGTAATCCCAGCTACTAGGAAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTCACAGTGAGCCGAAATCATGCCACTGCACTCCAGCCTGGGCGACGGAGCAAGACTCCAGCTAAAAAAAAAAAAAAAAAAAAAAGAGTGTGTGGCCTGGCACTCAAGTTCACATGGGTGTGCAGGCATGCCTGTGTATTCTCACATGACCTCCCTGCTCACGGTCCCTCCTTGCACTCATGTCTGAATGTCCCCGCGTGCACGCACATGGCTTCACAGATCTGGGCAGTGCCTTCCCTACCCTCTCTCTGCAGGGCCTTTTGCCCCCTCATGCAGGCCCCTGGATAATCGGCCCCATCCCCATGTCCCCATCTCCAGTGTATCTTAGCTACCCTAGGTAAAGGAGTGGGCTTTTTAGTTCCTAACCTTCCAGAGCTACAACAGCAGTCATCCAGCCAGGTCTGGGTGGGAACATTTTCTAGATACGGGTGCTGAGATCTCTCAGCCCAGAGAGAAGCCCTGGGGAATTTTCAGAGAGAAAGCAGTCTCCAGGTGGGGCTGGATGTACTGATGCCACTGAGATCTGTAAAGGAGTCCCTAACACCTGACATAGGAGTGACAAAACTGTTTTCTGCACCAACTGAGCAGAATACACGCAGCTGACCTGGGCTCAAGGTCTGGCCCTGCCACGTGCTGGCTCTGTGATGCTGGCCAAGTGCCTTCGCCTCTCCGGGCCACAGTTTTTTGATCTGAAGAGTGGAGCCCTACTCAAGCCATCTGCAGCTCTCGGGCTCTCTGACCTGACATCTTTCGGGTGGTGGGGACACAAAGGAAGCAGCCTCTATTGGGAGACCTTGTGCTTCTTTTTGGTCCCAGGACACTGCCCCCCACCACTCCAGTCCGGGTCCCAAGGGCCCAGTCAGCTCAACTGTAATCATGACAACATTGATCAAGCATCTTTACGTGCAGGTGCTGTGCCAAACGGTTCGAACGCTCTCTCATTTCAATCTCACGGCAAACCTACGGTGGAGGGGGTACGGTTGTATCCACTTTACATGTAAGAAACTGAGGCTGATATCAAGTGGTGGAGCCAAGAATAGTGCCTCGTTGCATCTTACTCCAACCTCTAGCCCATCCGGCCTCCTCCCTTCACGTGCGCCTAAGAGGGCTAGGGGGCCTGGATAGGGGAGGTCAGCTCCACAGTTTTGAGTAAACACACACAGTCTCAACTCTGATGACAACTTAAGTGCCAGGCATAGTGGCTGGCATGGGGCACACACTCAAGTCATGTTGTGCAGCACCTAACAGTTTATCAAAGTATCAGCAAACTTATTGTCCTGTTTGACCTTCCGCACAAAGCTGTCAAGGAAGGCAGGGTACGGAGGGTGATTCCTACCTTAGAGATGAAGAAACTGAGGCCCAGAGACTGCCCAGCTACCAGAAGGTGGATAGAGCGCTGGCCTCCATGCCTGCCTGACCTGGAGTCTGTCCAGTGCCCACCCACAGAACAGCCTCGGCCCTTTCCCATGCCCAGACACAGATGGCACACTTGCGACGGCCCACTCATAGCAGCTTCTTGTCCAGCTTTATTGGGAGGCCAGCATGCCTGGAGGGGGGCCAGGCATGAGGTGGGGTAGGAGAGCACTGAGAATACTGTCCCTTTTAAGCAACCTACAGGGGCAGCCCTGGAGATTGCAGGACCCAAGGAGCTCGCAGGATGGATAGGCAGGTGGACTTGGGGTATTGAGGTCTCAGGCAGCCACGGCTGAAGTTGGTCTGACCTCAGGGTCCAAATCCCAGAACTCAGAGAACTTGTCCTTAACGGTGCTCCAGTAGTCTTTCAGGGAACTGAAGCCATCGGTCACCCAGCCCCTAAATCAGTCAGGGGAAGCAACAGAGCAGGGCATGAGAACTCCTCTGTAGGCAACCATGGGACCCACACCCATGTCCCCACTGGACGACACCAGTCAGGACCACACCACCCTCTCAACTTCACTGGACGACAGCCCTGAGACCTCAGGCAGGAATCCCCCACAGCTGCCACCCTGGGAGAAGAGATATCCTTGCAGGAACCCCAGCACAAGTCAAACCCTGCCATCTCCAGGTCACCTCAGATGTTTATGCCCCTGGGCCTGAGGCACAAAGTGACAGGGTGGGGAGATGTGAAAGGTCAAGGCTGTCATTGTTTTCTGTGCAAACAGCACCGCCTGGAGTTGCACAACCTGGTGGCTCTGAGCAGGGTAGGACAGAGGGAGGCAGCCTCTCATTTGGAAAGTCATTGGAGGATTGATTAGTTGTGTGATCTGGGGCAGGTCACCTAATCGCTCTGAGCCTCAATTTTCTCATCTGCAAAGTGAGAAAATAACACCTACCCCAAAGCCGGTTCTGGGGACTAAGAATGTTTATGAACACCTCTGCTATGCCAGCTAATGCCAGTCAGGGTGAGGTGGAGAAGGGAGTAGGGGAGAGGAGAGTACTGATGGGCAGGGGCAGGATGGGAGAGGAAGGACACACTTCTGCTCACACTGGCCCCAGGTCTTAGAACAAAGCAGAAGCACTCACGGGCTTGAATTGGGTCAGGTGGGGCCTCCCAAGGCAAACCCCTAGCCCAGGGGTCCCCAACCCCCAAGTCATAGATAGGTACTGGTCCATGGACTGTTAGGAGCCGGGCTGCACAGCACGAAGTGAGTGGTGGGTGAGTGAGCAATACCGCCTGAGCTCCGCCTCCTGTCAGATCAAGTGGCCTTACATTCTCATAGGAGTGTGAACCCTATTGTGAACTGCACATGCCAGGGATCTAGGTGGAGGGCTCCTTATGAGAATCTAATGCCTGATGATCTGAGGTGGAACAGCTTCATCCCAAAACCATCCCCGCTGGCCCATGGAAAAATTGTCCACCACAAAACTGGTCCCTGGTGCCAAAAAGGCTGAGGACCACTGCTCTAGCCAGACCTTCAGAAAAGGAAAATGGGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCCCCTGAGGTCAGGAATTCAAGACCAACCTGGCCAACATGGTGAAACCCCATCTCTGCTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGGTTGAACCCGGGAGACGGAGGTTGCAGTGAGCCGAGATGGCACCACTGCACTCCAGCCTAGGTGACAGAGGGAGACTCCATTAAAAAAAAAAGAAGAAGAAAGAAAGAGAGAAAGGAAGAGAGGGAAAGAAAGAAAAAGGAAAGAAAGAAAGAAAGAGAAAGAAAGGAAAGAAAGAAAGAAAGGAAAGAAAGAAAGGAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAATAGAAAGAGAAAGAAAGGGAAAGGAAAGGAAAATGGAAATGAGGGCTAAAACGGCACGCCCTAGGACTGCTCCGGGGAGAAAGGAGGGACCTGGGAGGAATGCAGTCTCAACTCTGTCATCTCTCCCGCAGCAGCCTGACAAAGGCCCTGTGAGGAAAGAGGAGGCTGAAGAGGCACAGGCCCAGGGGAGGCTGGAGCACCTCCATTCCATTGTTGGGATCTCACCAGGGCAGGGGCGGGTGGGAATGGAGGCAGCTGGCAGGGGGGATGGGGAGGGAGGCCAGCGGGTGTACCTGGCCTGCTGGGCCACCTGGGACTCCTGCACGCTGCTCAGTGCATCCTTGGCGGTCTTGGTGGCGTGCTTCATGTAACCCTGCATGAAGCTGAGAAGGGAGGCATCCTCGGCCTCTGAAGCTCCTGAGGAAAGAGCAGGGCTGAGTGGGGTGGATCGGCCTCTGGACGAGCCCTGGGCTCCTGCTTGACCACCCATTGGGACTGGGATCCCCAAGTTGCCTCCACCCTGCCCCCAGCCCAGTCCCACCAAGTGCTTACGGGCAGAGGCCAGGAGCGCCAGGAGGGCAACAACAAGGAGTACCCGGGGCTGCATGGCACCTCTGTTCCTGCAAGGAAGTGTCCTGTGAGGGGCACCCCAGGTCCCCATGCCTCTGGACCCCTCCCTGGGGAGGTGGCGTGGCCCCTAAGGTAGAACCTTAGCTGGGTCTGCCAGAAGGAGTAGGGGCCGGCTCCCTGCTAATACGGGCTCTCAGAAGGGGGACTGGTGAGGGGCGAGGGATCGAGGCCCAAAGGGAGGTGGGTGGGATGGAGCAGAAAACCCACCAGACTGAACATCAAGGCACCTGCGGTCTGGACTGATCTCCGTCCAGTCCAGCCAACATGCTGTGTGTCTTTGGGTGATTTCTGGCCCTCTCCAGGCCTCAGTTTC | CA2697558960 | ClinVar | ||
| 11 | g.116832864del | CA6289703 | APOC3 | c.280del (p.Thr94LeufsTer?) c.334del (p.Thr112LeufsTer?) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116832864A= | CA2002760313 | APOC3 | c.280A= (p.Thr94=) c.334A= (p.Thr112=) | |
| 11 | g.116832864A>C | CA382711667 | APOC3 | c.280A>C (p.Thr94Pro) c.334A>C (p.Thr112Pro) | |
| 11 | g.116832864A>G | CA127528 | APOC3 | c.280A>G (p.Thr94Ala) c.334A>G (p.Thr112Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116832864A>T | CA382711673 | APOC3 | c.280A>T (p.Thr94Ser) c.334A>T (p.Thr112Ser) | |
| 11 | g.116832865C>A | CA382711677 | APOC3 | c.281C>A (p.Thr94Asn) c.335C>A (p.Thr112Asn) | |
| 11 | g.116832865C>G | CA382711683 | APOC3 | c.281C>G (p.Thr94Ser) c.335C>G (p.Thr112Ser) | |
| 11 | g.116832865C>T | CA382711689 | APOC3 | c.281C>T (p.Thr94Ile) c.335C>T (p.Thr112Ile) | gnomAD v4 |
| 11 | g.116832866T>A | CA476868970 | APOC3 | c.282T>A (p.Thr94=) c.336T>A (p.Thr112=) | |
| 11 | g.116832866T>C | CA6289704 | APOC3 | c.282T>C (p.Thr94=) c.336T>C (p.Thr112=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116832866T>G | CA476868971 | APOC3 | c.282T>G (p.Thr94=) c.336T>G (p.Thr112=) | |
| 11 | g.116832866T= | CA2002760314 | APOC3 | c.282T= (p.Thr94=) c.336T= (p.Thr112=) | |
| 11 | g.116832867T>A | CA382711697 | APOC3 | c.283T>A (p.Ser95Thr) c.337T>A (p.Ser113Thr) | |
| 11 | g.116832867T>C | CA382711704 | APOC3 | c.283T>C (p.Ser95Pro) c.337T>C (p.Ser113Pro) | |
| 11 | g.116832867T>G | CA382711706 | APOC3 | c.283T>G (p.Ser95Ala) c.337T>G (p.Ser113Ala) | |
| 11 | g.116832868C>A | CA382711719 | APOC3 | c.284C>A (p.Ser95Ter) c.338C>A (p.Ser113Ter) | |
| 11 | g.116832868C>G | CA382711716 | APOC3 | c.284C>G (p.Ser95Ter) c.338C>G (p.Ser113Ter) | |
| 11 | g.116832868C>T | CA382711712 | APOC3 | c.284C>T (p.Ser95Leu) c.338C>T (p.Ser113Leu) | |
| 11 | g.116832869A>C | CA476868974 | APOC3 | c.285A>C (p.Ser95=) c.339A>C (p.Ser113=) | |
| 11 | g.116832869A>G | CA476868973 | APOC3 | c.285A>G (p.Ser95=) c.339A>G (p.Ser113=) | gnomAD v4 COSMIC |
| 11 | g.116832869A>T | CA476868972 | APOC3 | c.285A>T (p.Ser95=) c.339A>T (p.Ser113=) | |
| 11 | g.116832870G>A | CA382711725 | APOC3 | c.286G>A (p.Ala96Thr) c.340G>A (p.Ala114Thr) | |
| 11 | g.116832870G>C | CA382711734 | APOC3 | c.286G>C (p.Ala96Pro) c.340G>C (p.Ala114Pro) | |
| 11 | g.116832870G>T | CA382711732 | APOC3 | c.286G>T (p.Ala96Ser) c.340G>T (p.Ala114Ser) | |
| 11 | g.116832871C>A | CA382711737 | APOC3 | c.287C>A (p.Ala96Asp) c.341C>A (p.Ala114Asp) | |
| 11 | g.116832871C= | CA2002760315 | APOC3 | c.287C= (p.Ala96=) c.341C= (p.Ala114=) | |
| 11 | g.116832871C>G | CA382711741 | APOC3 | c.287C>G (p.Ala96Gly) c.341C>G (p.Ala114Gly) | |
| 11 | g.116832871C>T | CA382711744 | APOC3 | c.287C>T (p.Ala96Val) c.341C>T (p.Ala114Val) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116832872C>A | CA6289705 | APOC3 | c.288C>A (p.Ala96=) c.342C>A (p.Ala114=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116832872C= | CA2002760316 | APOC3 | c.288C= (p.Ala96=) c.342C= (p.Ala114=) | |
| 11 | g.116832872C>G | CA476868975 | APOC3 | c.288C>G (p.Ala96=) c.342C>G (p.Ala114=) | |
| 11 | g.116832872C>T | CA6289706 | APOC3 | c.288C>T (p.Ala96=) c.342C>T (p.Ala114=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116832873G>A | CA6289707 | APOC3 | c.289G>A (p.Val97Met) c.343G>A (p.Val115Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116832873G>C | CA382711776 | APOC3 | c.289G>C (p.Val97Leu) c.343G>C (p.Val115Leu) | |
| 11 | g.116832873G= | CA2002760317 | APOC3 | c.289G= (p.Val97=) c.343G= (p.Val115=) | |
| 11 | g.116832873G>T | CA382711780 | APOC3 | c.289G>T (p.Val97Leu) c.343G>T (p.Val115Leu) | dbSNP |
| 11 | g.116832874T>A | CA382711786 | APOC3 | c.290T>A (p.Val97Glu) c.344T>A (p.Val115Glu) | dbSNP |
| 11 | g.116832874T>C | CA382711788 | APOC3 | c.290T>C (p.Val97Ala) c.344T>C (p.Val115Ala) | |
| 11 | g.116832874T>G | CA382711789 | APOC3 | c.290T>G (p.Val97Gly) c.344T>G (p.Val115Gly) | |
| 11 | g.116832875G>A | CA476868976 | APOC3 | c.291G>A (p.Val97=) c.345G>A (p.Val115=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116832875G>C | CA476868978 | APOC3 | c.291G>C (p.Val97=) c.345G>C (p.Val115=) | |
| 11 | g.116832875G= | CA2002760318 | APOC3 | c.291G= (p.Val97=) c.345G= (p.Val115=) | |
| 11 | g.116832875G>T | CA476868977 | APOC3 | c.291G>T (p.Val97=) c.345G>T (p.Val115=) | |
| 11 | g.116832876G>A | CA382711795 | APOC3 | c.292G>A (p.Ala98Thr) c.346G>A (p.Ala116Thr) | |
| 11 | g.116832876G>C | CA382711791 | APOC3 | c.292G>C (p.Ala98Pro) c.346G>C (p.Ala116Pro) | |
| 11 | g.116832876G>T | CA382711790 | APOC3 | c.292G>T (p.Ala98Ser) c.346G>T (p.Ala116Ser) | |
| 11 | g.116832877C>A | CA382711800 | APOC3 | c.293C>A (p.Ala98Asp) c.347C>A (p.Ala116Asp) | |
| 11 | g.116832877C>G | CA382711803 | APOC3 | c.293C>G (p.Ala98Gly) c.347C>G (p.Ala116Gly) | |
| 11 | g.116832877C>T | CA382711809 | APOC3 | c.293C>T (p.Ala98Val) c.347C>T (p.Ala116Val) |