| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.116830247_116836307delinsAGACAGAGGGCCTGAGGCAGGAGATGAGCAAGGATCTGGAGGAGGTGAAGGCCAAGGTGCAGCCCTACCTGGACGACTTCCAGAAGAAGTGGCAGGAGGAGATGGAGCTCTACCGCCAGAAGGTGGAGCCGCTGCGCGCAGAGCTCCAAGAGGGCGCGCGCCAGAAGCTGCACGAGCTGCAAGAGAAGCTGAGCCCACTGGGCGAGGAGATGCGCGACCGCGCGCGCGCCCATGTGGACGCGCTGCGCACGCATCTGGCCCCCTACAGCGACGAGCTGCGCCAGCGCTTGGCCGCGCGCCTTGAGGCTCTCAAGGAGAACGGCGGCGCCAGACTGGCCGAGTACCACGCCAAGGCCACCGAGCATCTGAGCACGCTCAGCGAGAAGGCCAAGCCCGCGCTCGAGGACCTCCGCCAAGGCCTGCTGCCCGTGCTGGAGAGCTTCAAGGTCAGCTTCCTGAGCGCTCTCGAGGAGTACACTAAGAAGCTCAACACCCAGTGAGGCGCCCGCCGCCGCCCCCCTTCCCGGTGCTCAGAATAAACGTTTCCAAAGTGGGAAGCAGCTTCTTTCTTTTGGGAGAATAGAGGGGGGTGCGGGGACATCCGGGGGAGCCCGGGTGGGGCCTTTGGCCCTGGAGCAGGGACTTCCTGCCGGATCTCAACAACTCCGTGCCCAGACTGGACGTCTTAGGGCCAAGATCGACGTTGGAGGACCTGCTGGACGCCTGGCTGCTTACGAGTGAGGGAGTAGAGTCTGCCTTAGCAAGGCTCAAGTAGAAAGGAAGTCACAGCGGACCAGGCAAAGCCACAGACAATCCAAGGCCAGGTGCCCTGAAAGGGGCTCAAACAAGGCCTGCAGCCCTGTCTGAGGCGGGCCAGGAAACAGGGTTGCTTTAGCTGGGAGCAGTGGGTTCCCCGTCCCCAGAGGTGTGTCCGTATAGAGCCTTCTCCAGCCCAGCCGCTGTCAGCGGGGCGGGACGGAGCGGGGCGGCCTCAGGGAGCCAGCCACTGGGATTGGGGTTTGGTCCCGGGTGCAAGTGAAGCGCTTGGAGTTTGCGCCTGTCCTCCTTTACTAATTCAAAAACCTCTCAAACAGACACTTCCCTTTTCTTCTCACAAGGCCAGTATCCCCCTCCCACTACTCCCATCCCGCCCAGAAACAGCCGCGGCTTCCTCAGGCACAGCAGTGGAAGCCAGTCCTCCACCCCCTGCGGCTCCATGCCATGCCACCCCCTCTTTCTGCCAGCCCTGGCAGAAGCTGGCCTGAGTAAGAAAATTCACCACCACCTCTTGCAGGTACATTTTTATTTCCAAGATGCTCTCATATCTGTGCTCTCACTGCATCCTCCCTTCCCCACATCCTGGCTAGATTGCCATCAGACGCAGAGCATGGATGAGGACACTGAAGCCTGGACCTGTGACGTCGCTTGCCCAGTGAACAGCAGGATGGGCTAGGCCGCGCTTTTTAGACCCTGCACCCCTGGCCATCCATGATTATTGAAAAGAGTGCGCGGGTCGGGTGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGTATCACTTCAGGCCAGGAGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATCAGCTGGGCATGGTGGCTTGCACCCGTAATCCCAGCTACTAGGAAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTCACAGTGAGCCGAAATCATGCCACTGCACTCCAGCCTGGGCGACGGAGCAAGACTCCAGCTAAAAAAAAAAAAAAAAAAAAAAGAGTGTGTGGCCTGGCACTCAAGTTCACATGGGTGTGCAGGCATGCCTGTGTATTCTCACATGACCTCCCTGCTCACGGTCCCTCCTTGCACTCATGTCTGAATGTCCCCGCGTGCACGCACATGGCTTCACAGATCTGGGCAGTGCCTTCCCTACCCTCTCTCTGCAGGGCCTTTTGCCCCCTCATGCAGGCCCCTGGATAATCGGCCCCATCCCCATGTCCCCATCTCCAGTGTATCTTAGCTACCCTAGGTAAAGGAGTGGGCTTTTTAGTTCCTAACCTTCCAGAGCTACAACAGCAGTCATCCAGCCAGGTCTGGGTGGGAACATTTTCTAGATACGGGTGCTGAGATCTCTCAGCCCAGAGAGAAGCCCTGGGGAATTTTCAGAGAGAAAGCAGTCTCCAGGTGGGGCTGGATGTACTGATGCCACTGAGATCTGTAAAGGAGTCCCTAACACCTGACATAGGAGTGACAAAACTGTTTTCTGCACCAACTGAGCAGAATACACGCAGCTGACCTGGGCTCAAGGTCTGGCCCTGCCACGTGCTGGCTCTGTGATGCTGGCCAAGTGCCTTCGCCTCTCCGGGCCACAGTTTTTTGATCTGAAGAGTGGAGCCCTACTCAAGCCATCTGCAGCTCTCGGGCTCTCTGACCTGACATCTTTCGGGTGGTGGGGACACAAAGGAAGCAGCCTCTATTGGGAGACCTTGTGCTTCTTTTTGGTCCCAGGACACTGCCCCCCACCACTCCAGTCCGGGTCCCAAGGGCCCAGTCAGCTCAACTGTAATCATGACAACATTGATCAAGCATCTTTACGTGCAGGTGCTGTGCCAAACGGTTCGAACGCTCTCTCATTTCAATCTCACGGCAAACCTACGGTGGAGGGGGTACGGTTGTATCCACTTTACATGTAAGAAACTGAGGCTGATATCAAGTGGTGGAGCCAAGAATAGTGCCTCGTTGCATCTTACTCCAACCTCTAGCCCATCCGGCCTCCTCCCTTCACGTGCGCCTAAGAGGGCTAGGGGGCCTGGATAGGGGAGGTCAGCTCCACAGTTTTGAGTAAACACACACAGTCTCAACTCTGATGACAACTTAAGTGCCAGGCATAGTGGCTGGCATGGGGCACACACTCAAGTCATGTTGTGCAGCACCTAACAGTTTATCAAAGTATCAGCAAACTTATTGTCCTGTTTGACCTTCCGCACAAAGCTGTCAAGGAAGGCAGGGTACGGAGGGTGATTCCTACCTTAGAGATGAAGAAACTGAGGCCCAGAGACTGCCCAGCTACCAGAAGGTGGATAGAGCGCTGGCCTCCATGCCTGCCTGACCTGGAGTCTGTCCAGTGCCCACCCACAGAACAGCCTCGGCCCTTTCCCATGCCCAGACACAGATGGCACACTTGCGACGGCCCACTCATAGCAGCTTCTTGTCCAGCTTTATTGGGAGGCCAGCATGCCTGGAGGGGGGCCAGGCATGAGGTGGGGTAGGAGAGCACTGAGAATACTGTCCCTTTTAAGCAACCTACAGGGGCAGCCCTGGAGATTGCAGGACCCAAGGAGCTCGCAGGATGGATAGGCAGGTGGACTTGGGGTATTGAGGTCTCAGGCAGCCACGGCTGAAGTTGGTCTGACCTCAGGGTCCAAATCCCAGAACTCAGAGAACTTGTCCTTAACGGTGCTCCAGTAGTCTTTCAGGGAACTGAAGCCATCGGTCACCCAGCCCCTAAATCAGTCAGGGGAAGCAACAGAGCAGGGCATGAGAACTCCTCTGTAGGCAACCATGGGACCCACACCCATGTCCCCACTGGACGACACCAGTCAGGACCACACCACCCTCTCAACTTCACTGGACGACAGCCCTGAGACCTCAGGCAGGAATCCCCCACAGCTGCCACCCTGGGAGAAGAGATATCCTTGCAGGAACCCCAGCACAAGTCAAACCCTGCCATCTCCAGGTCACCTCAGATGTTTATGCCCCTGGGCCTGAGGCACAAAGTGACAGGGTGGGGAGATGTGAAAGGTCAAGGCTGTCATTGTTTTCTGTGCAAACAGCACCGCCTGGAGTTGCACAACCTGGTGGCTCTGAGCAGGGTAGGACAGAGGGAGGCAGCCTCTCATTTGGAAAGTCATTGGAGGATTGATTAGTTGTGTGATCTGGGGCAGGTCACCTAATCGCTCTGAGCCTCAATTTTCTCATCTGCAAAGTGAGAAAATAACACCTACCCCAAAGCCGGTTCTGGGGACTAAGAATGTTTATGAACACCTCTGCTATGCCAGCTAATGCCAGTCAGGGTGAGGTGGAGAAGGGAGTAGGGGAGAGGAGAGTACTGATGGGCAGGGGCAGGATGGGAGAGGAAGGACACACTTCTGCTCACACTGGCCCCAGGTCTTAGAACAAAGCAGAAGCACTCACGGGCTTGAATTGGGTCAGGTGGGGCCTCCCAAGGCAAACCCCTAGCCCAGGGGTCCCCAACCCCCAAGTCATAGATAGGTACTGGTCCATGGACTGTTAGGAGCCGGGCTGCACAGCACGAAGTGAGTGGTGGGTGAGTGAGCAATACCGCCTGAGCTCCGCCTCCTGTCAGATCAAGTGGCCTTACATTCTCATAGGAGTGTGAACCCTATTGTGAACTGCACATGCCAGGGATCTAGGTGGAGGGCTCCTTATGAGAATCTAATGCCTGATGATCTGAGGTGGAACAGCTTCATCCCAAAACCATCCCCGCTGGCCCATGGAAAAATTGTCCACCACAAAACTGGTCCCTGGTGCCAAAAAGGCTGAGGACCACTGCTCTAGCCAGACCTTCAGAAAAGGAAAATGGGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCCCCTGAGGTCAGGAATTCAAGACCAACCTGGCCAACATGGTGAAACCCCATCTCTGCTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGGTTGAACCCGGGAGACGGAGGTTGCAGTGAGCCGAGATGGCACCACTGCACTCCAGCCTAGGTGACAGAGGGAGACTCCATTAAAAAAAAAAGAAGAAGAAAGAAAGAGAGAAAGGAAGAGAGGGAAAGAAAGAAAAAGGAAAGAAAGAAAGAAAGAGAAAGAAAGGAAAGAAAGAAAGAAAGGAAAGAAAGAAAGGAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAATAGAAAGAGAAAGAAAGGGAAAGGAAAGGAAAATGGAAATGAGGGCTAAAACGGCACGCCCTAGGACTGCTCCGGGGAGAAAGGAGGGACCTGGGAGGAATGCAGTCTCAACTCTGTCATCTCTCCCGCAGCAGCCTGACAAAGGCCCTGTGAGGAAAGAGGAGGCTGAAGAGGCACAGGCCCAGGGGAGGCTGGAGCACCTCCATTCCATTGTTGGGATCTCACCAGGGCAGGGGCGGGTGGGAATGGAGGCAGCTGGCAGGGGGGATGGGGAGGGAGGCCAGCGGGTGTACCTGGCCTGCTGGGCCACCTGGGACTCCTGCACGCTGCTCAGTGCATCCTTGGCGGTCTTGGTGGCGTGCTTCATGTAACCCTGCATGAAGCTGAGAAGGGAGGCATCCTCGGCCTCTGAAGCTCCTGAGGAAAGAGCAGGGCTGAGTGGGGTGGATCGGCCTCTGGACGAGCCCTGGGCTCCTGCTTGACCACCCATTGGGACTGGGATCCCCAAGTTGCCTCCACCCTGCCCCCAGCCCAGTCCCACCAAGTGCTTACGGGCAGAGGCCAGGAGCGCCAGGAGGGCAACAACAAGGAGTACCCGGGGCTGCATGGCACCTCTGTTCCTGCAAGGAAGTGTCCTGTGAGGGGCACCCCAGGTCCCCATGCCTCTGGACCCCTCCCTGGGGAGGTGGCGTGGCCCCTAAGGTAGAACCTTAGCTGGGTCTGCCAGAAGGAGTAGGGGCCGGCTCCCTGCTAATACGGGCTCTCAGAAGGGGGACTGGTGAGGGGCGAGGGATCGAGGCCCAAAGGGAGGTGGGTGGGATGGAGCAGAAAACCCACCAGACTGAACATCAAGGCACCTGCGGTCTGGACTGATCTCCGTCCAGTCCAGCCAACATGCTGTGTGTCTTTGGGTGATTTCTGGCCCTCTCCAGGCCTCAGTTTC | CA2697558960 | ClinVar | ||
| 11 | g.116835994C>A | CA382714935 | APOA1 | c.618G>T (p.Lys206Asn) c.552G>T (p.Lys184Asn) c.291G>T (p.Lys97Asn) | |
| 11 | g.116835994C= | CA2002761832 | APOA1 | c.618G= (p.Lys206=) c.552G= (p.Lys184=) c.291G= (p.Lys97=) | |
| 11 | g.116835994C>G | CA382714937 | APOA1 | c.618G>C (p.Lys206Asn) c.552G>C (p.Lys184Asn) c.291G>C (p.Lys97Asn) | |
| 11 | g.116835994C>T | CA229324050 | APOA1 | c.618G>A (p.Lys206=) c.552G>A (p.Lys184=) c.291G>A (p.Lys97=) | dbSNP gnomAD v4 |
| 11 | g.116835994_116835996del | CA2616112002 | APOA1 | c.616_618del (p.Lys206del) c.550_552del (p.Lys184del) c.289_291del (p.Lys97del) | gnomAD v4 |
| 11 | g.116835995T>A | CA382714940 | APOA1 | c.617A>T (p.Lys206Met) c.551A>T (p.Lys184Met) c.290A>T (p.Lys97Met) | |
| 11 | g.116835995T>C | CA6289772 | APOA1 | c.617A>G (p.Lys206Arg) c.551A>G (p.Lys184Arg) c.290A>G (p.Lys97Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116835995T>G | CA382714944 | APOA1 | c.617A>C (p.Lys206Thr) c.551A>C (p.Lys184Thr) c.290A>C (p.Lys97Thr) | |
| 11 | g.116835995T= | CA2002761833 | APOA1 | c.617A= (p.Lys206=) c.551A= (p.Lys184=) c.290A= (p.Lys97=) | |
| 11 | g.116835996T>A | CA382714946 | APOA1 | c.616A>T (p.Lys206Ter) c.550A>T (p.Lys184Ter) c.289A>T (p.Lys97Ter) | |
| 11 | g.116835996T>C | CA382714948 | APOA1 | c.616A>G (p.Lys206Glu) c.550A>G (p.Lys184Glu) c.289A>G (p.Lys97Glu) | gnomAD v4 |
| 11 | g.116835996T>G | CA382714950 | APOA1 | c.616A>C (p.Lys206Gln) c.550A>C (p.Lys184Gln) c.289A>C (p.Lys97Gln) | |
| 11 | g.116835997G>A | CA477048627 | APOA1 | c.615C>T (p.Leu205=) c.549C>T (p.Leu183=) c.288C>T (p.Leu96=) | |
| 11 | g.116835997G>C | CA477048628 | APOA1 | c.615C>G (p.Leu205=) c.549C>G (p.Leu183=) c.288C>G (p.Leu96=) | |
| 11 | g.116835997G>T | CA477048629 | APOA1 | c.615C>A (p.Leu205=) c.549C>A (p.Leu183=) c.288C>A (p.Leu96=) | gnomAD v4 |
| 11 | g.116836000_116836001del | CA2695215579 | APOA1 | c.614_615del (p.Leu205GlnfsTer?) c.548_549del (p.Leu183GlnfsTer?) c.287_288del (p.Leu96GlnfsTer?) | |
| 11 | g.116835998A>C | CA382714952 | APOA1 | c.614T>G (p.Leu205Arg) c.548T>G (p.Leu183Arg) c.287T>G (p.Leu96Arg) | |
| 11 | g.116835998A>G | CA382714953 | APOA1 | c.614T>C (p.Leu205Pro) c.548T>C (p.Leu183Pro) c.287T>C (p.Leu96Pro) | |
| 11 | g.116835998A>T | CA382714954 | APOA1 | c.614T>A (p.Leu205His) c.548T>A (p.Leu183His) c.287T>A (p.Leu96His) | |
| 11 | g.116835999G>A | CA382714955 | APOA1 | c.613C>T (p.Leu205Phe) c.547C>T (p.Leu183Phe) c.286C>T (p.Leu96Phe) | |
| 11 | g.116835999G>C | CA382714956 | APOA1 | c.613C>G (p.Leu205Val) c.547C>G (p.Leu183Val) c.286C>G (p.Leu96Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116835999G= | CA2002761834 | APOA1 | c.613C= (p.Leu205=) c.547C= (p.Leu183=) c.286C= (p.Leu96=) | |
| 11 | g.116835999G>T | CA382714957 | APOA1 | c.613C>A (p.Leu205Ile) c.547C>A (p.Leu183Ile) c.286C>A (p.Leu96Ile) | |
| 11 | g.116836000A= | CA2002761835 | APOA1 | c.612T= (p.Ala204=) c.546T= (p.Ala182=) c.285T= (p.Ala95=) | |
| 11 | g.116836000A>C | CA477048630 | APOA1 | c.612T>G (p.Ala204=) c.546T>G (p.Ala182=) c.285T>G (p.Ala95=) | |
| 11 | g.116836000A>G | CA477048631 | APOA1 | c.612T>C (p.Ala204=) c.546T>C (p.Ala182=) c.285T>C (p.Ala95=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116836000A>T | CA477048632 | APOA1 | c.612T>A (p.Ala204=) c.546T>A (p.Ala182=) c.285T>A (p.Ala95=) | gnomAD v4 |
| 11 | g.116836001G>A | CA6289773 | APOA1 | c.611C>T (p.Ala204Val) c.545C>T (p.Ala182Val) c.284C>T (p.Ala95Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116836001G>C | CA382714962 | APOA1 | c.611C>G (p.Ala204Gly) c.545C>G (p.Ala182Gly) c.284C>G (p.Ala95Gly) | |
| 11 | g.116836001G= | CA2002761836 | APOA1 | c.611C= (p.Ala204=) c.545C= (p.Ala182=) c.284C= (p.Ala95=) | |
| 11 | g.116836001G>T | CA382714959 | APOA1 | c.611C>A (p.Ala204Asp) c.545C>A (p.Ala182Asp) c.284C>A (p.Ala95Asp) | |
| 11 | g.116836002C>A | CA382714965 | APOA1 | c.610G>T (p.Ala204Ser) c.544G>T (p.Ala182Ser) c.283G>T (p.Ala95Ser) | gnomAD v4 |
| 11 | g.116836002C>G | CA382714967 | APOA1 | c.610G>C (p.Ala204Pro) c.544G>C (p.Ala182Pro) c.283G>C (p.Ala95Pro) | |
| 11 | g.116836002C>T | CA382714968 | APOA1 | c.610G>A (p.Ala204Thr) c.544G>A (p.Ala182Thr) c.283G>A (p.Ala95Thr) | gnomAD v4 |
| 11 | g.116836003C>A | CA382714972 | APOA1 | c.609G>T (p.Glu203Asp) c.543G>T (p.Glu181Asp) c.282G>T (p.Glu94Asp) | |
| 11 | g.116836003C= | CA2002761837 | APOA1 | c.609G= (p.Glu203=) c.543G= (p.Glu181=) c.282G= (p.Glu94=) | |
| 11 | g.116836003C>G | CA382714980 | APOA1 | c.609G>C (p.Glu203Asp) c.543G>C (p.Glu181Asp) c.282G>C (p.Glu94Asp) | gnomAD v4 |
| 11 | g.116836003C>T | CA477048633 | APOA1 | c.609G>A (p.Glu203=) c.543G>A (p.Glu181=) c.282G>A (p.Glu94=) | dbSNP |
| 11 | g.116836004T>A | CA382714988 | APOA1 | c.608A>T (p.Glu203Val) c.542A>T (p.Glu181Val) c.281A>T (p.Glu94Val) | |
| 11 | g.116836004T>C | CA382714986 | APOA1 | c.608A>G (p.Glu203Gly) c.542A>G (p.Glu181Gly) c.281A>G (p.Glu94Gly) | |
| 11 | g.116836004T>G | CA382714983 | APOA1 | c.608A>C (p.Glu203Ala) c.542A>C (p.Glu181Ala) c.281A>C (p.Glu94Ala) | |
| 11 | g.116836005C>A | CA382714991 | APOA1 | c.607G>T (p.Glu203Ter) c.541G>T (p.Glu181Ter) c.280G>T (p.Glu94Ter) | |
| 11 | g.116836005C= | CA2002761838 | APOA1 | c.607G= (p.Glu203=) c.541G= (p.Glu181=) c.280G= (p.Glu94=) | |
| 11 | g.116836005C>G | CA382714993 | APOA1 | c.607G>C (p.Glu203Gln) c.541G>C (p.Glu181Gln) c.280G>C (p.Glu94Gln) | dbSNP |
| 11 | g.116836005C>T | CA382714995 | APOA1 | c.607G>A (p.Glu203Lys) c.541G>A (p.Glu181Lys) c.280G>A (p.Glu94Lys) | |
| 11 | g.116836006A>C | CA477048634 | APOA1 | c.606T>G (p.Leu202=) c.540T>G (p.Leu180=) c.279T>G (p.Leu93=) | |
| 11 | g.116836006A>G | CA477048635 | APOA1 | c.606T>C (p.Leu202=) c.540T>C (p.Leu180=) c.279T>C (p.Leu93=) | gnomAD v4 |
| 11 | g.116836006A>T | CA477048636 | APOA1 | c.606T>A (p.Leu202=) c.540T>A (p.Leu180=) c.279T>A (p.Leu93=) | |
| 11 | g.116836007A>C | CA382714996 | APOA1 | c.605T>G (p.Leu202Arg) c.539T>G (p.Leu180Arg) c.278T>G (p.Leu93Arg) |