UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.116830247_116836307delinsAGACAGAGGGCCTGAGGCAGGAGATGAGCAAGGATCTGGAGGAGGTGAAGGCCAAGGTGCAGCCCTACCTGGACGACTTCCAGAAGAAGTGGCAGGAGGAGATGGAGCTCTACCGCCAGAAGGTGGAGCCGCTGCGCGCAGAGCTCCAAGAGGGCGCGCGCCAGAAGCTGCACGAGCTGCAAGAGAAGCTGAGCCCACTGGGCGAGGAGATGCGCGACCGCGCGCGCGCCCATGTGGACGCGCTGCGCACGCATCTGGCCCCCTACAGCGACGAGCTGCGCCAGCGCTTGGCCGCGCGCCTTGAGGCTCTCAAGGAGAACGGCGGCGCCAGACTGGCCGAGTACCACGCCAAGGCCACCGAGCATCTGAGCACGCTCAGCGAGAAGGCCAAGCCCGCGCTCGAGGACCTCCGCCAAGGCCTGCTGCCCGTGCTGGAGAGCTTCAAGGTCAGCTTCCTGAGCGCTCTCGAGGAGTACACTAAGAAGCTCAACACCCAGTGAGGCGCCCGCCGCCGCCCCCCTTCCCGGTGCTCAGAATAAACGTTTCCAAAGTGGGAAGCAGCTTCTTTCTTTTGGGAGAATAGAGGGGGGTGCGGGGACATCCGGGGGAGCCCGGGTGGGGCCTTTGGCCCTGGAGCAGGGACTTCCTGCCGGATCTCAACAACTCCGTGCCCAGACTGGACGTCTTAGGGCCAAGATCGACGTTGGAGGACCTGCTGGACGCCTGGCTGCTTACGAGTGAGGGAGTAGAGTCTGCCTTAGCAAGGCTCAAGTAGAAAGGAAGTCACAGCGGACCAGGCAAAGCCACAGACAATCCAAGGCCAGGTGCCCTGAAAGGGGCTCAAACAAGGCCTGCAGCCCTGTCTGAGGCGGGCCAGGAAACAGGGTTGCTTTAGCTGGGAGCAGTGGGTTCCCCGTCCCCAGAGGTGTGTCCGTATAGAGCCTTCTCCAGCCCAGCCGCTGTCAGCGGGGCGGGACGGAGCGGGGCGGCCTCAGGGAGCCAGCCACTGGGATTGGGGTTTGGTCCCGGGTGCAAGTGAAGCGCTTGGAGTTTGCGCCTGTCCTCCTTTACTAATTCAAAAACCTCTCAAACAGACACTTCCCTTTTCTTCTCACAAGGCCAGTATCCCCCTCCCACTACTCCCATCCCGCCCAGAAACAGCCGCGGCTTCCTCAGGCACAGCAGTGGAAGCCAGTCCTCCACCCCCTGCGGCTCCATGCCATGCCACCCCCTCTTTCTGCCAGCCCTGGCAGAAGCTGGCCTGAGTAAGAAAATTCACCACCACCTCTTGCAGGTACATTTTTATTTCCAAGATGCTCTCATATCTGTGCTCTCACTGCATCCTCCCTTCCCCACATCCTGGCTAGATTGCCATCAGACGCAGAGCATGGATGAGGACACTGAAGCCTGGACCTGTGACGTCGCTTGCCCAGTGAACAGCAGGATGGGCTAGGCCGCGCTTTTTAGACCCTGCACCCCTGGCCATCCATGATTATTGAAAAGAGTGCGCGGGTCGGGTGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGTATCACTTCAGGCCAGGAGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATCAGCTGGGCATGGTGGCTTGCACCCGTAATCCCAGCTACTAGGAAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTCACAGTGAGCCGAAATCATGCCACTGCACTCCAGCCTGGGCGACGGAGCAAGACTCCAGCTAAAAAAAAAAAAAAAAAAAAAAGAGTGTGTGGCCTGGCACTCAAGTTCACATGGGTGTGCAGGCATGCCTGTGTATTCTCACATGACCTCCCTGCTCACGGTCCCTCCTTGCACTCATGTCTGAATGTCCCCGCGTGCACGCACATGGCTTCACAGATCTGGGCAGTGCCTTCCCTACCCTCTCTCTGCAGGGCCTTTTGCCCCCTCATGCAGGCCCCTGGATAATCGGCCCCATCCCCATGTCCCCATCTCCAGTGTATCTTAGCTACCCTAGGTAAAGGAGTGGGCTTTTTAGTTCCTAACCTTCCAGAGCTACAACAGCAGTCATCCAGCCAGGTCTGGGTGGGAACATTTTCTAGATACGGGTGCTGAGATCTCTCAGCCCAGAGAGAAGCCCTGGGGAATTTTCAGAGAGAAAGCAGTCTCCAGGTGGGGCTGGATGTACTGATGCCACTGAGATCTGTAAAGGAGTCCCTAACACCTGACATAGGAGTGACAAAACTGTTTTCTGCACCAACTGAGCAGAATACACGCAGCTGACCTGGGCTCAAGGTCTGGCCCTGCCACGTGCTGGCTCTGTGATGCTGGCCAAGTGCCTTCGCCTCTCCGGGCCACAGTTTTTTGATCTGAAGAGTGGAGCCCTACTCAAGCCATCTGCAGCTCTCGGGCTCTCTGACCTGACATCTTTCGGGTGGTGGGGACACAAAGGAAGCAGCCTCTATTGGGAGACCTTGTGCTTCTTTTTGGTCCCAGGACACTGCCCCCCACCACTCCAGTCCGGGTCCCAAGGGCCCAGTCAGCTCAACTGTAATCATGACAACATTGATCAAGCATCTTTACGTGCAGGTGCTGTGCCAAACGGTTCGAACGCTCTCTCATTTCAATCTCACGGCAAACCTACGGTGGAGGGGGTACGGTTGTATCCACTTTACATGTAAGAAACTGAGGCTGATATCAAGTGGTGGAGCCAAGAATAGTGCCTCGTTGCATCTTACTCCAACCTCTAGCCCATCCGGCCTCCTCCCTTCACGTGCGCCTAAGAGGGCTAGGGGGCCTGGATAGGGGAGGTCAGCTCCACAGTTTTGAGTAAACACACACAGTCTCAACTCTGATGACAACTTAAGTGCCAGGCATAGTGGCTGGCATGGGGCACACACTCAAGTCATGTTGTGCAGCACCTAACAGTTTATCAAAGTATCAGCAAACTTATTGTCCTGTTTGACCTTCCGCACAAAGCTGTCAAGGAAGGCAGGGTACGGAGGGTGATTCCTACCTTAGAGATGAAGAAACTGAGGCCCAGAGACTGCCCAGCTACCAGAAGGTGGATAGAGCGCTGGCCTCCATGCCTGCCTGACCTGGAGTCTGTCCAGTGCCCACCCACAGAACAGCCTCGGCCCTTTCCCATGCCCAGACACAGATGGCACACTTGCGACGGCCCACTCATAGCAGCTTCTTGTCCAGCTTTATTGGGAGGCCAGCATGCCTGGAGGGGGGCCAGGCATGAGGTGGGGTAGGAGAGCACTGAGAATACTGTCCCTTTTAAGCAACCTACAGGGGCAGCCCTGGAGATTGCAGGACCCAAGGAGCTCGCAGGATGGATAGGCAGGTGGACTTGGGGTATTGAGGTCTCAGGCAGCCACGGCTGAAGTTGGTCTGACCTCAGGGTCCAAATCCCAGAACTCAGAGAACTTGTCCTTAACGGTGCTCCAGTAGTCTTTCAGGGAACTGAAGCCATCGGTCACCCAGCCCCTAAATCAGTCAGGGGAAGCAACAGAGCAGGGCATGAGAACTCCTCTGTAGGCAACCATGGGACCCACACCCATGTCCCCACTGGACGACACCAGTCAGGACCACACCACCCTCTCAACTTCACTGGACGACAGCCCTGAGACCTCAGGCAGGAATCCCCCACAGCTGCCACCCTGGGAGAAGAGATATCCTTGCAGGAACCCCAGCACAAGTCAAACCCTGCCATCTCCAGGTCACCTCAGATGTTTATGCCCCTGGGCCTGAGGCACAAAGTGACAGGGTGGGGAGATGTGAAAGGTCAAGGCTGTCATTGTTTTCTGTGCAAACAGCACCGCCTGGAGTTGCACAACCTGGTGGCTCTGAGCAGGGTAGGACAGAGGGAGGCAGCCTCTCATTTGGAAAGTCATTGGAGGATTGATTAGTTGTGTGATCTGGGGCAGGTCACCTAATCGCTCTGAGCCTCAATTTTCTCATCTGCAAAGTGAGAAAATAACACCTACCCCAAAGCCGGTTCTGGGGACTAAGAATGTTTATGAACACCTCTGCTATGCCAGCTAATGCCAGTCAGGGTGAGGTGGAGAAGGGAGTAGGGGAGAGGAGAGTACTGATGGGCAGGGGCAGGATGGGAGAGGAAGGACACACTTCTGCTCACACTGGCCCCAGGTCTTAGAACAAAGCAGAAGCACTCACGGGCTTGAATTGGGTCAGGTGGGGCCTCCCAAGGCAAACCCCTAGCCCAGGGGTCCCCAACCCCCAAGTCATAGATAGGTACTGGTCCATGGACTGTTAGGAGCCGGGCTGCACAGCACGAAGTGAGTGGTGGGTGAGTGAGCAATACCGCCTGAGCTCCGCCTCCTGTCAGATCAAGTGGCCTTACATTCTCATAGGAGTGTGAACCCTATTGTGAACTGCACATGCCAGGGATCTAGGTGGAGGGCTCCTTATGAGAATCTAATGCCTGATGATCTGAGGTGGAACAGCTTCATCCCAAAACCATCCCCGCTGGCCCATGGAAAAATTGTCCACCACAAAACTGGTCCCTGGTGCCAAAAAGGCTGAGGACCACTGCTCTAGCCAGACCTTCAGAAAAGGAAAATGGGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCCCCTGAGGTCAGGAATTCAAGACCAACCTGGCCAACATGGTGAAACCCCATCTCTGCTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGGTTGAACCCGGGAGACGGAGGTTGCAGTGAGCCGAGATGGCACCACTGCACTCCAGCCTAGGTGACAGAGGGAGACTCCATTAAAAAAAAAAGAAGAAGAAAGAAAGAGAGAAAGGAAGAGAGGGAAAGAAAGAAAAAGGAAAGAAAGAAAGAAAGAGAAAGAAAGGAAAGAAAGAAAGAAAGGAAAGAAAGAAAGGAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAATAGAAAGAGAAAGAAAGGGAAAGGAAAGGAAAATGGAAATGAGGGCTAAAACGGCACGCCCTAGGACTGCTCCGGGGAGAAAGGAGGGACCTGGGAGGAATGCAGTCTCAACTCTGTCATCTCTCCCGCAGCAGCCTGACAAAGGCCCTGTGAGGAAAGAGGAGGCTGAAGAGGCACAGGCCCAGGGGAGGCTGGAGCACCTCCATTCCATTGTTGGGATCTCACCAGGGCAGGGGCGGGTGGGAATGGAGGCAGCTGGCAGGGGGGATGGGGAGGGAGGCCAGCGGGTGTACCTGGCCTGCTGGGCCACCTGGGACTCCTGCACGCTGCTCAGTGCATCCTTGGCGGTCTTGGTGGCGTGCTTCATGTAACCCTGCATGAAGCTGAGAAGGGAGGCATCCTCGGCCTCTGAAGCTCCTGAGGAAAGAGCAGGGCTGAGTGGGGTGGATCGGCCTCTGGACGAGCCCTGGGCTCCTGCTTGACCACCCATTGGGACTGGGATCCCCAAGTTGCCTCCACCCTGCCCCCAGCCCAGTCCCACCAAGTGCTTACGGGCAGAGGCCAGGAGCGCCAGGAGGGCAACAACAAGGAGTACCCGGGGCTGCATGGCACCTCTGTTCCTGCAAGGAAGTGTCCTGTGAGGGGCACCCCAGGTCCCCATGCCTCTGGACCCCTCCCTGGGGAGGTGGCGTGGCCCCTAAGGTAGAACCTTAGCTGGGTCTGCCAGAAGGAGTAGGGGCCGGCTCCCTGCTAATACGGGCTCTCAGAAGGGGGACTGGTGAGGGGCGAGGGATCGAGGCCCAAAGGGAGGTGGGTGGGATGGAGCAGAAAACCCACCAGACTGAACATCAAGGCACCTGCGGTCTGGACTGATCTCCGTCCAGTCCAGCCAACATGCTGTGTGTCTTTGGGTGATTTCTGGCCCTCTCCAGGCCTCAGTTTC | CA2697558960 | ClinVar | ||
| 11 | g.116835962T>A | CA382714707 | APOA1 | c.650A>T (p.His217Leu) c.584A>T (p.His195Leu) c.323A>T (p.His108Leu) | |
| 11 | g.116835962T>C | CA382714709 | APOA1 | c.650A>G (p.His217Arg) c.584A>G (p.His195Arg) c.323A>G (p.His108Arg) | |
| 11 | g.116835962T>G | CA382714712 | APOA1 | c.650A>C (p.His217Pro) c.584A>C (p.His195Pro) c.323A>C (p.His108Pro) | |
| 11 | g.116835963G>A | CA382714716 | APOA1 | c.649C>T (p.His217Tyr) c.583C>T (p.His195Tyr) c.322C>T (p.His108Tyr) | dbSNP |
| 11 | g.116835963G>C | CA382714721 | APOA1 | c.649C>G (p.His217Asp) c.583C>G (p.His195Asp) c.322C>G (p.His108Asp) | |
| 11 | g.116835963G= | CA2002761812 | APOA1 | c.649C= (p.His217=) c.583C= (p.His195=) c.322C= (p.His108=) | |
| 11 | g.116835963G>T | CA382714717 | APOA1 | c.649C>A (p.His217Asn) c.583C>A (p.His195Asn) c.322C>A (p.His108Asn) | |
| 11 | g.116835964G>A | CA6289765 | APOA1 | c.648C>T (p.Tyr216=) c.582C>T (p.Tyr194=) c.321C>T (p.Tyr107=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.116835964G>C | CA382714725 | APOA1 | c.648C>G (p.Tyr216Ter) c.582C>G (p.Tyr194Ter) c.321C>G (p.Tyr107Ter) | |
| 11 | g.116835964G= | CA2002761813 | APOA1 | c.648C= (p.Tyr216=) c.582C= (p.Tyr194=) c.321C= (p.Tyr107=) | |
| 11 | g.116835964G>T | CA382714728 | APOA1 | c.648C>A (p.Tyr216Ter) c.582C>A (p.Tyr194Ter) c.321C>A (p.Tyr107Ter) | |
| 11 | g.116835965T>A | CA382714734 | APOA1 | c.647A>T (p.Tyr216Phe) c.581A>T (p.Tyr194Phe) c.320A>T (p.Tyr107Phe) | |
| 11 | g.116835965T>C | CA382714735 | APOA1 | c.647A>G (p.Tyr216Cys) c.581A>G (p.Tyr194Cys) c.320A>G (p.Tyr107Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116835965T>G | CA382714738 | APOA1 | c.647A>C (p.Tyr216Ser) c.581A>C (p.Tyr194Ser) c.320A>C (p.Tyr107Ser) | |
| 11 | g.116835966A= | CA2002761814 | APOA1 | c.646T= (p.Tyr216=) c.580T= (p.Tyr194=) c.319T= (p.Tyr107=) | |
| 11 | g.116835966A>C | CA382714742 | APOA1 | c.646T>G (p.Tyr216Asp) c.580T>G (p.Tyr194Asp) c.319T>G (p.Tyr107Asp) | dbSNP |
| 11 | g.116835966A>G | CA382714745 | APOA1 | c.646T>C (p.Tyr216His) c.580T>C (p.Tyr194His) c.319T>C (p.Tyr107His) | gnomAD v4 |
| 11 | g.116835966A>T | CA382714748 | APOA1 | c.646T>A (p.Tyr216Asn) c.580T>A (p.Tyr194Asn) c.319T>A (p.Tyr107Asn) | |
| 11 | g.116835967C>A | CA382714749 | APOA1 | c.645G>T (p.Glu215Asp) c.579G>T (p.Glu193Asp) c.318G>T (p.Glu106Asp) | |
| 11 | g.116835967C= | CA2002761815 | APOA1 | c.645G= (p.Glu215=) c.579G= (p.Glu193=) c.318G= (p.Glu106=) | |
| 11 | g.116835967C>G | CA382714757 | APOA1 | c.645G>C (p.Glu215Asp) c.579G>C (p.Glu193Asp) c.318G>C (p.Glu106Asp) | |
| 11 | g.116835967C>T | CA6289766 | APOA1 | c.645G>A (p.Glu215=) c.579G>A (p.Glu193=) c.318G>A (p.Glu106=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116835968T>A | CA382714765 | APOA1 | c.644A>T (p.Glu215Val) c.578A>T (p.Glu193Val) c.317A>T (p.Glu106Val) | |
| 11 | g.116835968T>C | CA382714771 | APOA1 | c.644A>G (p.Glu215Gly) c.578A>G (p.Glu193Gly) c.317A>G (p.Glu106Gly) | |
| 11 | g.116835968T>G | CA382714767 | APOA1 | c.644A>C (p.Glu215Ala) c.578A>C (p.Glu193Ala) c.317A>C (p.Glu106Ala) | |
| 11 | g.116835970_116835977del | CA602136489 | APOA1 | c.637_644del (p.Leu213ValfsTer?) c.571_578del (p.Leu191ValfsTer?) c.310_317del (p.Leu104ValfsTer?) | gnomAD v2 gnomAD v4 |
| 11 | g.116835969C>A | CA382714774 | APOA1 | c.643G>T (p.Glu215Ter) c.577G>T (p.Glu193Ter) c.316G>T (p.Glu106Ter) | |
| 11 | g.116835969C= | CA2002761816 | APOA1 | c.643G= (p.Glu215=) c.577G= (p.Glu193=) c.316G= (p.Glu106=) | |
| 11 | g.116835969C>G | CA229324035 | APOA1 | c.643G>C (p.Glu215Gln) c.577G>C (p.Glu193Gln) c.316G>C (p.Glu106Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116835969C>T | CA382714776 | APOA1 | c.643G>A (p.Glu215Lys) c.577G>A (p.Glu193Lys) c.316G>A (p.Glu106Lys) | ClinVar gnomAD v4 |
| 11 | g.116835970G>A | CA6289768 | APOA1 | c.642C>T (p.Ala214=) c.576C>T (p.Ala192=) c.315C>T (p.Ala105=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116835970G>C | CA6289767 | APOA1 | c.642C>G (p.Ala214=) c.576C>G (p.Ala192=) c.315C>G (p.Ala105=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116835970G= | CA2002761817 | APOA1 | c.642C= (p.Ala214=) c.576C= (p.Ala192=) c.315C= (p.Ala105=) | |
| 11 | g.116835970G>T | CA477048609 | APOA1 | c.642C>A (p.Ala214=) c.576C>A (p.Ala192=) c.315C>A (p.Ala105=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116835971G>A | CA382714779 | APOA1 | c.641C>T (p.Ala214Val) c.575C>T (p.Ala192Val) c.314C>T (p.Ala105Val) | ClinVar gnomAD v4 |
| 11 | g.116835971G>C | CA382714781 | APOA1 | c.641C>G (p.Ala214Gly) c.575C>G (p.Ala192Gly) c.314C>G (p.Ala105Gly) | dbSNP gnomAD v4 |
| 11 | g.116835971G= | CA2002761818 | APOA1 | c.641C= (p.Ala214=) c.575C= (p.Ala192=) c.314C= (p.Ala105=) | |
| 11 | g.116835971G>T | CA382714783 | APOA1 | c.641C>A (p.Ala214Asp) c.575C>A (p.Ala192Asp) c.314C>A (p.Ala105Asp) | |
| 11 | g.116835972C>A | CA382714787 | APOA1 | c.640G>T (p.Ala214Ser) c.574G>T (p.Ala192Ser) c.313G>T (p.Ala105Ser) | |
| 11 | g.116835972C= | CA2002761819 | APOA1 | c.640G= (p.Ala214=) c.574G= (p.Ala192=) c.313G= (p.Ala105=) | |
| 11 | g.116835972C>G | CA382714789 | APOA1 | c.640G>C (p.Ala214Pro) c.574G>C (p.Ala192Pro) c.313G>C (p.Ala105Pro) | |
| 11 | g.116835972C>T | CA382714791 | APOA1 | c.640G>A (p.Ala214Thr) c.574G>A (p.Ala192Thr) c.313G>A (p.Ala105Thr) | dbSNP gnomAD v2 |
| 11 | g.116835973C>A | CA477048610 | APOA1 | c.639G>T (p.Leu213=) c.573G>T (p.Leu191=) c.312G>T (p.Leu104=) | |
| 11 | g.116835973C>G | CA477048612 | APOA1 | c.639G>C (p.Leu213=) c.573G>C (p.Leu191=) c.312G>C (p.Leu104=) | |
| 11 | g.116835973C>T | CA477048611 | APOA1 | c.639G>A (p.Leu213=) c.573G>A (p.Leu191=) c.312G>A (p.Leu104=) | ClinVar |
| 11 | g.116835974A>C | CA382714799 | APOA1 | c.638T>G (p.Leu213Arg) c.572T>G (p.Leu191Arg) c.311T>G (p.Leu104Arg) | gnomAD v4 |
| 11 | g.116835974A>G | CA382714797 | APOA1 | c.638T>C (p.Leu213Pro) c.572T>C (p.Leu191Pro) c.311T>C (p.Leu104Pro) | |
| 11 | g.116835974A>T | CA382714795 | APOA1 | c.638T>A (p.Leu213Gln) c.572T>A (p.Leu191Gln) c.311T>A (p.Leu104Gln) | gnomAD v4 |
| 11 | g.116835975G>A | CA477048613 | APOA1 | c.637C>T (p.Leu213=) c.571C>T (p.Leu191=) c.310C>T (p.Leu104=) | |
| 11 | g.116835975G>C | CA6289769 | APOA1 | c.637C>G (p.Leu213Val) c.571C>G (p.Leu191Val) c.310C>G (p.Leu104Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116835975G= | CA2002761820 | APOA1 | c.637C= (p.Leu213=) c.571C= (p.Leu191=) c.310C= (p.Leu104=) | |
| 11 | g.116835975G>T | CA382714804 | APOA1 | c.637C>A (p.Leu213Met) c.571C>A (p.Leu191Met) c.310C>A (p.Leu104Met) | |
| 11 | g.116835976T>A | CA382714807 | APOA1 | c.636A>T (p.Arg212Ser) c.570A>T (p.Arg190Ser) c.309A>T (p.Arg103Ser) | |
| 11 | g.116835976T>C | CA477048614 | APOA1 | c.636A>G (p.Arg212=) c.570A>G (p.Arg190=) c.309A>G (p.Arg103=) | |
| 11 | g.116835976T>G | CA382714813 | APOA1 | c.636A>C (p.Arg212Ser) c.570A>C (p.Arg190Ser) c.309A>C (p.Arg103Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116835976T= | CA2002761821 | APOA1 | c.636A= (p.Arg212=) c.570A= (p.Arg190=) c.309A= (p.Arg103=) | |
| 11 | g.116835977C>A | CA382714816 | APOA1 | c.635G>T (p.Arg212Ile) c.569G>T (p.Arg190Ile) c.308G>T (p.Arg103Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116835977C= | CA2002761822 | APOA1 | c.635G= (p.Arg212=) c.569G= (p.Arg190=) c.308G= (p.Arg103=) | |
| 11 | g.116835977C>G | CA382714818 | APOA1 | c.635G>C (p.Arg212Thr) c.569G>C (p.Arg190Thr) c.308G>C (p.Arg103Thr) | gnomAD v4 |
| 11 | g.116835977C>T | CA382714820 | APOA1 | c.635G>A (p.Arg212Lys) c.569G>A (p.Arg190Lys) c.308G>A (p.Arg103Lys) | dbSNP |
| 11 | g.116835978T>A | CA382714822 | APOA1 | c.634A>T (p.Arg212Ter) c.568A>T (p.Arg190Ter) c.307A>T (p.Arg103Ter) | |
| 11 | g.116835978T>C | CA6289770 | APOA1 | c.634A>G (p.Arg212Gly) c.568A>G (p.Arg190Gly) c.307A>G (p.Arg103Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116835978T>G | CA477048615 | APOA1 | c.634A>C (p.Arg212=) c.568A>C (p.Arg190=) c.307A>C (p.Arg103=) | dbSNP gnomAD v2 |
| 11 | g.116835978T= | CA2002761823 | APOA1 | c.634A= (p.Arg212=) c.568A= (p.Arg190=) c.307A= (p.Arg103=) | |
| 11 | g.116835979G>A | CA477048616 | APOA1 | c.633C>T (p.Ala211=) c.567C>T (p.Ala189=) c.306C>T (p.Ala102=) | dbSNP |
| 11 | g.116835979G>C | CA477048617 | APOA1 | c.633C>G (p.Ala211=) c.567C>G (p.Ala189=) c.306C>G (p.Ala102=) | |
| 11 | g.116835979G= | CA2002761824 | APOA1 | c.633C= (p.Ala211=) c.567C= (p.Ala189=) c.306C= (p.Ala102=) | |
| 11 | g.116835979G>T | CA477048618 | APOA1 | c.633C>A (p.Ala211=) c.567C>A (p.Ala189=) c.306C>A (p.Ala102=) | |
| 11 | g.116835980G>A | CA382714826 | APOA1 | c.632C>T (p.Ala211Val) c.566C>T (p.Ala189Val) c.305C>T (p.Ala102Val) | |
| 11 | g.116835980G>C | CA382714828 | APOA1 | c.632C>G (p.Ala211Gly) c.566C>G (p.Ala189Gly) c.305C>G (p.Ala102Gly) | |
| 11 | g.116835980G>T | CA382714829 | APOA1 | c.632C>A (p.Ala211Asp) c.566C>A (p.Ala189Asp) c.305C>A (p.Ala102Asp) | |
| 11 | g.116835981C>A | CA382714839 | APOA1 | c.631G>T (p.Ala211Ser) c.565G>T (p.Ala189Ser) c.304G>T (p.Ala102Ser) | |
| 11 | g.116835981C>G | CA382714836 | APOA1 | c.631G>C (p.Ala211Pro) c.565G>C (p.Ala189Pro) c.304G>C (p.Ala102Pro) | |
| 11 | g.116835981C>T | CA382714833 | APOA1 | c.631G>A (p.Ala211Thr) c.565G>A (p.Ala189Thr) c.304G>A (p.Ala102Thr) | gnomAD v4 |
| 11 | g.116835982G>A | CA477048619 | APOA1 | c.630C>T (p.Gly210=) c.564C>T (p.Gly188=) c.303C>T (p.Gly101=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116835982G>C | CA477048620 | APOA1 | c.630C>G (p.Gly210=) c.564C>G (p.Gly188=) c.303C>G (p.Gly101=) | dbSNP gnomAD v2 |
| 11 | g.116835982G= | CA2002761825 | APOA1 | c.630C= (p.Gly210=) c.564C= (p.Gly188=) c.303C= (p.Gly101=) | |
| 11 | g.116835982G>T | CA477048621 | APOA1 | c.630C>A (p.Gly210=) c.564C>A (p.Gly188=) c.303C>A (p.Gly101=) | gnomAD v4 |
| 11 | g.116835983C>A | CA382714847 | APOA1 | c.629G>T (p.Gly210Val) c.563G>T (p.Gly188Val) c.302G>T (p.Gly101Val) | |
| 11 | g.116835983C>G | CA382714849 | APOA1 | c.629G>C (p.Gly210Ala) c.563G>C (p.Gly188Ala) c.302G>C (p.Gly101Ala) | |
| 11 | g.116835983C>T | CA382714848 | APOA1 | c.629G>A (p.Gly210Asp) c.563G>A (p.Gly188Asp) c.302G>A (p.Gly101Asp) | gnomAD v4 |
| 11 | g.116835984C>A | CA382714851 | APOA1 | c.628G>T (p.Gly210Cys) c.562G>T (p.Gly188Cys) c.301G>T (p.Gly101Cys) | |
| 11 | g.116835984C>G | CA382714853 | APOA1 | c.628G>C (p.Gly210Arg) c.562G>C (p.Gly188Arg) c.301G>C (p.Gly101Arg) | |
| 11 | g.116835984C>T | CA382714855 | APOA1 | c.628G>A (p.Gly210Ser) c.562G>A (p.Gly188Ser) c.301G>A (p.Gly101Ser) | |
| 11 | g.116835985G>A | CA477048622 | APOA1 | c.627C>T (p.Gly209=) c.561C>T (p.Gly187=) c.300C>T (p.Gly100=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116835985G>C | CA477048623 | APOA1 | c.627C>G (p.Gly209=) c.561C>G (p.Gly187=) c.300C>G (p.Gly100=) | |
| 11 | g.116835985G= | CA2002761826 | APOA1 | c.627C= (p.Gly209=) c.561C= (p.Gly187=) c.300C= (p.Gly100=) | |
| 11 | g.116835985G>T | CA477048624 | APOA1 | c.627C>A (p.Gly209=) c.561C>A (p.Gly187=) c.300C>A (p.Gly100=) | gnomAD v4 |
| 11 | g.116835986C>A | CA382714857 | APOA1 | c.626G>T (p.Gly209Val) c.560G>T (p.Gly187Val) c.299G>T (p.Gly100Val) | gnomAD v4 |
| 11 | g.116835986C>G | CA382714870 | APOA1 | c.626G>C (p.Gly209Ala) c.560G>C (p.Gly187Ala) c.299G>C (p.Gly100Ala) | gnomAD v4 |
| 11 | g.116835986C>T | CA382714878 | APOA1 | c.626G>A (p.Gly209Asp) c.560G>A (p.Gly187Asp) c.299G>A (p.Gly100Asp) | gnomAD v4 |
| 11 | g.116835987C>A | CA382714883 | APOA1 | c.625G>T (p.Gly209Cys) c.559G>T (p.Gly187Cys) c.298G>T (p.Gly100Cys) | |
| 11 | g.116835987C= | CA2002761827 | APOA1 | c.625G= (p.Gly209=) c.559G= (p.Gly187=) c.298G= (p.Gly100=) | |
| 11 | g.116835987C>G | CA382714884 | APOA1 | c.625G>C (p.Gly209Arg) c.559G>C (p.Gly187Arg) c.298G>C (p.Gly100Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116835987C>T | CA382714888 | APOA1 | c.625G>A (p.Gly209Ser) c.559G>A (p.Gly187Ser) c.298G>A (p.Gly100Ser) | ClinVar dbSNP gnomAD v4 |
| 11 | g.116835987_116835990delinsCGTT | CA2002761828 | APOA1 | c.622_625delinsAACG (p.Asn208=) c.556_559delinsAACG (p.Asn186=) c.295_298delinsAACG (p.Asn99=) | |
| 11 | g.116835988del | CA2695215578 | APOA1 | c.624del (p.Asn208LysfsTer17) c.558del (p.Asn186LysfsTer17) c.297del (p.Asn99LysfsTer17) | |
| 11 | g.116835988G>A | CA477048625 | APOA1 | c.624C>T (p.Asn208=) c.558C>T (p.Asn186=) c.297C>T (p.Asn99=) | |
| 11 | g.116835988G>C | CA382714891 | APOA1 | c.624C>G (p.Asn208Lys) c.558C>G (p.Asn186Lys) c.297C>G (p.Asn99Lys) | |
| 11 | g.116835988G>T | CA382714893 | APOA1 | c.624C>A (p.Asn208Lys) c.558C>A (p.Asn186Lys) c.297C>A (p.Asn99Lys) | |
| 11 | g.116835988_116835990del | CA2002761829 | APOA1 | c.622_624del (p.Asn208del) c.556_558del (p.Asn186del) c.295_297del (p.Asn99del) | dbSNP |
| 11 | g.116835989T>A | CA382714901 | APOA1 | c.623A>T (p.Asn208Ile) c.557A>T (p.Asn186Ile) c.296A>T (p.Asn99Ile) | |
| 11 | g.116835989T>C | CA382714896 | APOA1 | c.623A>G (p.Asn208Ser) c.557A>G (p.Asn186Ser) c.296A>G (p.Asn99Ser) | |
| 11 | g.116835989T>G | CA382714899 | APOA1 | c.623A>C (p.Asn208Thr) c.557A>C (p.Asn186Thr) c.296A>C (p.Asn99Thr) | |
| 11 | g.116835990T>A | CA382714904 | APOA1 | c.622A>T (p.Asn208Tyr) c.556A>T (p.Asn186Tyr) c.295A>T (p.Asn99Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116835990T>C | CA382714905 | APOA1 | c.622A>G (p.Asn208Asp) c.556A>G (p.Asn186Asp) c.295A>G (p.Asn99Asp) | dbSNP |
| 11 | g.116835990T>G | CA382714907 | APOA1 | c.622A>C (p.Asn208His) c.556A>C (p.Asn186His) c.295A>C (p.Asn99His) | |
| 11 | g.116835990T= | CA2002761830 | APOA1 | c.622A= (p.Asn208=) c.556A= (p.Asn186=) c.295A= (p.Asn99=) | |
| 11 | g.116835991C>A | CA6289771 | APOA1 | c.621G>T (p.Glu207Asp) c.555G>T (p.Glu185Asp) c.294G>T (p.Glu98Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116835991C= | CA2002761831 | APOA1 | c.621G= (p.Glu207=) c.555G= (p.Glu185=) c.294G= (p.Glu98=) | |
| 11 | g.116835991C>G | CA382714919 | APOA1 | c.621G>C (p.Glu207Asp) c.555G>C (p.Glu185Asp) c.294G>C (p.Glu98Asp) | ClinVar gnomAD v4 |
| 11 | g.116835991C>T | CA477048626 | APOA1 | c.621G>A (p.Glu207=) c.555G>A (p.Glu185=) c.294G>A (p.Glu98=) | |
| 11 | g.116835992T>A | CA382714922 | APOA1 | c.620A>T (p.Glu207Val) c.554A>T (p.Glu185Val) c.293A>T (p.Glu98Val) | |
| 11 | g.116835992T>C | CA382714924 | APOA1 | c.620A>G (p.Glu207Gly) c.554A>G (p.Glu185Gly) c.293A>G (p.Glu98Gly) | |
| 11 | g.116835992T>G | CA382714926 | APOA1 | c.620A>C (p.Glu207Ala) c.554A>C (p.Glu185Ala) c.293A>C (p.Glu98Ala) | |
| 11 | g.116835993C>A | CA382714928 | APOA1 | c.619G>T (p.Glu207Ter) c.553G>T (p.Glu185Ter) c.292G>T (p.Glu98Ter) | |
| 11 | g.116835993C>G | CA382714929 | APOA1 | c.619G>C (p.Glu207Gln) c.553G>C (p.Glu185Gln) c.292G>C (p.Glu98Gln) | |
| 11 | g.116835993C>T | CA382714931 | APOA1 | c.619G>A (p.Glu207Lys) c.553G>A (p.Glu185Lys) c.292G>A (p.Glu98Lys) | gnomAD v4 |
| 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) | |
| 11 | g.116836007A>G | CA382714997 | APOA1 | c.605T>C (p.Leu202Pro) c.539T>C (p.Leu180Pro) c.278T>C (p.Leu93Pro) | ClinVar dbSNP |
| 11 | g.116836007A>T | CA382714999 | APOA1 | c.605T>A (p.Leu202His) c.539T>A (p.Leu180His) c.278T>A (p.Leu93His) | |
| 11 | g.116836008G>A | CA382715002 | APOA1 | c.604C>T (p.Leu202Phe) c.538C>T (p.Leu180Phe) c.277C>T (p.Leu93Phe) | gnomAD v4 |
| 11 | g.116836008G>C | CA382715005 | APOA1 | c.604C>G (p.Leu202Val) c.538C>G (p.Leu180Val) c.277C>G (p.Leu93Val) | |
| 11 | g.116836008G>T | CA382715003 | APOA1 | c.604C>A (p.Leu202Ile) c.538C>A (p.Leu180Ile) c.277C>A (p.Leu93Ile) | |
| 11 | g.116836009G>A | CA477048638 | APOA1 | c.603C>T (p.Arg201=) c.537C>T (p.Arg179=) c.276C>T (p.Arg92=) | |
| 11 | g.116836009G>C | CA477048639 | APOA1 | c.603C>G (p.Arg201=) c.537C>G (p.Arg179=) c.276C>G (p.Arg92=) | |
| 11 | g.116836009G>T | CA477048637 | APOA1 | c.603C>A (p.Arg201=) c.537C>A (p.Arg179=) c.276C>A (p.Arg92=) | gnomAD v4 |
| 11 | g.116836010C>A | CA382715006 | APOA1 | c.602G>T (p.Arg201Leu) c.536G>T (p.Arg179Leu) c.275G>T (p.Arg92Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116836010C= | CA2002761839 | APOA1 | c.602G= (p.Arg201=) c.536G= (p.Arg179=) c.275G= (p.Arg92=) | |
| 11 | g.116836010C>G | CA382715010 | APOA1 | c.602G>C (p.Arg201Pro) c.536G>C (p.Arg179Pro) c.275G>C (p.Arg92Pro) | ClinVar dbSNP |
| 11 | g.116836010C>T | CA6289774 | APOA1 | c.602G>A (p.Arg201His) c.536G>A (p.Arg179His) c.275G>A (p.Arg92His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116836011G>A | CA382715012 | APOA1 | c.601C>T (p.Arg201Cys) c.535C>T (p.Arg179Cys) c.274C>T (p.Arg92Cys) | |
| 11 | g.116836011G>C | CA382715013 | APOA1 | c.601C>G (p.Arg201Gly) c.535C>G (p.Arg179Gly) c.274C>G (p.Arg92Gly) | dbSNP gnomAD v4 |
| 11 | g.116836011G= | CA2002761840 | APOA1 | c.601C= (p.Arg201=) c.535C= (p.Arg179=) c.274C= (p.Arg92=) | |
| 11 | g.116836011G>T | CA6289775 | APOA1 | c.601C>A (p.Arg201Ser) c.535C>A (p.Arg179Ser) c.274C>A (p.Arg92Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116836012C>A | CA477048642 | APOA1 | c.600G>T (p.Ala200=) c.534G>T (p.Ala178=) c.273G>T (p.Ala91=) | gnomAD v4 |
| 11 | g.116836012C>G | CA477048640 | APOA1 | c.600G>C (p.Ala200=) c.534G>C (p.Ala178=) c.273G>C (p.Ala91=) | |
| 11 | g.116836012C>T | CA477048641 | APOA1 | c.600G>A (p.Ala200=) c.534G>A (p.Ala178=) c.273G>A (p.Ala91=) | |
| 11 | g.116836013G>A | CA382715014 | APOA1 | c.599C>T (p.Ala200Val) c.533C>T (p.Ala178Val) c.272C>T (p.Ala91Val) | ClinVar gnomAD v4 |
| 11 | g.116836013G>C | CA382715016 | APOA1 | c.599C>G (p.Ala200Gly) c.533C>G (p.Ala178Gly) c.272C>G (p.Ala91Gly) | |
| 11 | g.116836013G>T | CA382715015 | APOA1 | c.599C>A (p.Ala200Glu) c.533C>A (p.Ala178Glu) c.272C>A (p.Ala91Glu) | gnomAD v4 |
| 11 | g.116836014C>A | CA382715017 | APOA1 | c.598G>T (p.Ala200Ser) c.532G>T (p.Ala178Ser) c.271G>T (p.Ala91Ser) | |
| 11 | g.116836014C>G | CA382715019 | APOA1 | c.598G>C (p.Ala200Pro) c.532G>C (p.Ala178Pro) c.271G>C (p.Ala91Pro) | |
| 11 | g.116836014C>T | CA382715018 | APOA1 | c.598G>A (p.Ala200Thr) c.532G>A (p.Ala178Thr) c.271G>A (p.Ala91Thr) | gnomAD v4 |
| 11 | g.116836015G>A | CA477048643 | APOA1 | c.597C>T (p.Ala199=) c.531C>T (p.Ala177=) c.270C>T (p.Ala90=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116836015G>C | CA6289776 | APOA1 | c.597C>G (p.Ala199=) c.531C>G (p.Ala177=) c.270C>G (p.Ala90=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116836015G= | CA2002761841 | APOA1 | c.597C= (p.Ala199=) c.531C= (p.Ala177=) c.270C= (p.Ala90=) | |
| 11 | g.116836015G>T | CA477048644 | APOA1 | c.597C>A (p.Ala199=) c.531C>A (p.Ala177=) c.270C>A (p.Ala90=) | |
| 11 | g.116836020_116836052del | CA2695215580 | APOA1 | c.565_597del (p.Pro189_Ala199del) c.499_531del (p.Pro167_Ala177del) c.238_270del (p.Pro80_Ala90del) | |
| 11 | g.116836016G>A | CA382715024 | APOA1 | c.596C>T (p.Ala199Val) c.530C>T (p.Ala177Val) c.269C>T (p.Ala90Val) | gnomAD v4 |
| 11 | g.116836016G>C | CA382715022 | APOA1 | c.596C>G (p.Ala199Gly) c.530C>G (p.Ala177Gly) c.269C>G (p.Ala90Gly) | |
| 11 | g.116836016G>T | CA382715028 | APOA1 | c.596C>A (p.Ala199Asp) c.530C>A (p.Ala177Asp) c.269C>A (p.Ala90Asp) | gnomAD v4 |
| 11 | g.116836017C>A | CA382715031 | APOA1 | c.595G>T (p.Ala199Ser) c.529G>T (p.Ala177Ser) c.268G>T (p.Ala90Ser) | |
| 11 | g.116836017C= | CA2002761842 | APOA1 | c.595G= (p.Ala199=) c.529G= (p.Ala177=) c.268G= (p.Ala90=) | |
| 11 | g.116836017C>G | CA127592 | APOA1 | c.595G>C (p.Ala199Pro) c.529G>C (p.Ala177Pro) c.268G>C (p.Ala90Pro) | ClinVar dbSNP gnomAD v4 |
| 11 | g.116836017C>T | CA6289777 | APOA1 | c.595G>A (p.Ala199Thr) c.529G>A (p.Ala177Thr) c.268G>A (p.Ala90Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116836018C>A | CA382715038 | APOA1 | c.594G>T (p.Leu198Phe) c.528G>T (p.Leu176Phe) c.267G>T (p.Leu89Phe) | gnomAD v4 |
| 11 | g.116836018C= | CA2002761843 | APOA1 | c.594G= (p.Leu198=) c.528G= (p.Leu176=) c.267G= (p.Leu89=) | |
| 11 | g.116836018C>G | CA382715040 | APOA1 | c.594G>C (p.Leu198Phe) c.528G>C (p.Leu176Phe) c.267G>C (p.Leu89Phe) | |
| 11 | g.116836018C>T | CA477048645 | APOA1 | c.594G>A (p.Leu198=) c.528G>A (p.Leu176=) c.267G>A (p.Leu89=) | dbSNP gnomAD v2 |
| 11 | g.116836019A= | CA2002761844 | APOA1 | c.593T= (p.Leu198=) c.527T= (p.Leu176=) c.266T= (p.Leu89=) | |
| 11 | g.116836019A>C | CA382715043 | APOA1 | c.593T>G (p.Leu198Trp) c.527T>G (p.Leu176Trp) c.266T>G (p.Leu89Trp) | |
| 11 | g.116836019A>G | CA127589 | APOA1 | c.593T>C (p.Leu198Ser) c.527T>C (p.Leu176Ser) c.266T>C (p.Leu89Ser) | ClinVar dbSNP |
| 11 | g.116836019A>T | CA382715049 | APOA1 | c.593T>A (p.Leu198Ter) c.527T>A (p.Leu176Ter) c.266T>A (p.Leu89Ter) | |
| 11 | g.116836020A>C | CA382715050 | APOA1 | c.592T>G (p.Leu198Val) c.526T>G (p.Leu176Val) c.265T>G (p.Leu89Val) | |
| 11 | g.116836020A>G | CA477048646 | APOA1 | c.592T>C (p.Leu198=) c.526T>C (p.Leu176=) c.265T>C (p.Leu89=) | |
| 11 | g.116836020A>T | CA382715051 | APOA1 | c.592T>A (p.Leu198Met) c.526T>A (p.Leu176Met) c.265T>A (p.Leu89Met) | |
| 11 | g.116836020_116836035dup | CA2580083483 | APOA1 | c.577_592dup (p.Leu198Ter) c.511_526dup (p.Leu176Ter) c.250_265dup (p.Leu89Ter) | ClinVar |
| 11 | g.116836021G>A | CA477048647 | APOA1 | c.591C>T (p.Arg197=) c.525C>T (p.Arg175=) c.264C>T (p.Arg88=) | dbSNP gnomAD v4 |
| 11 | g.116836021G>C | CA477048648 | APOA1 | c.591C>G (p.Arg197=) c.525C>G (p.Arg175=) c.264C>G (p.Arg88=) | |
| 11 | g.116836021G= | CA2002761845 | APOA1 | c.591C= (p.Arg197=) c.525C= (p.Arg175=) c.264C= (p.Arg88=) | |
| 11 | g.116836021G>T | CA477048649 | APOA1 | c.591C>A (p.Arg197=) c.525C>A (p.Arg175=) c.264C>A (p.Arg88=) | |
| 11 | g.116836022C>A | CA382715054 | APOA1 | c.590G>T (p.Arg197Leu) c.524G>T (p.Arg175Leu) c.263G>T (p.Arg88Leu) | gnomAD v4 |
| 11 | g.116836022C= | CA2002761846 | APOA1 | c.590G= (p.Arg197=) c.524G= (p.Arg175=) c.263G= (p.Arg88=) | |
| 11 | g.116836022C>G | CA229324102 | APOA1 | c.590G>C (p.Arg197Pro) c.524G>C (p.Arg175Pro) c.263G>C (p.Arg88Pro) | ClinVar dbSNP |
| 11 | g.116836022C>T | CA382715052 | APOA1 | c.590G>A (p.Arg197His) c.524G>A (p.Arg175His) c.263G>A (p.Arg88His) | dbSNP gnomAD v4 |
| 11 | g.116836023G>A | CA127537 | APOA1 | c.589C>T (p.Arg197Cys) c.523C>T (p.Arg175Cys) c.262C>T (p.Arg88Cys) | ClinVar dbSNP |
| 11 | g.116836023G>C | CA382715057 | APOA1 | c.589C>G (p.Arg197Gly) c.523C>G (p.Arg175Gly) c.262C>G (p.Arg88Gly) | |
| 11 | g.116836023G= | CA2002761847 | APOA1 | c.589C= (p.Arg197=) c.523C= (p.Arg175=) c.262C= (p.Arg88=) | |
| 11 | g.116836023G>T | CA382715059 | APOA1 | c.589C>A (p.Arg197Ser) c.523C>A (p.Arg175Ser) c.262C>A (p.Arg88Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116836024C>A | CA382715062 | APOA1 | c.588G>T (p.Gln196His) c.522G>T (p.Gln174His) c.261G>T (p.Gln87His) | |
| 11 | g.116836024C>G | CA382715065 | APOA1 | c.588G>C (p.Gln196His) c.522G>C (p.Gln174His) c.261G>C (p.Gln87His) | |
| 11 | g.116836024C>T | CA477048650 | APOA1 | c.588G>A (p.Gln196=) c.522G>A (p.Gln174=) c.261G>A (p.Gln87=) | |
| 11 | g.116836024_116836025delinsGG | CA2695215581 | APOA1 | c.587_588delinsCC (p.Gln196Pro) c.521_522delinsCC (p.Gln174Pro) c.260_261delinsCC (p.Gln87Pro) | |
| 11 | g.116836025T>A | CA382715069 | APOA1 | c.587A>T (p.Gln196Leu) c.521A>T (p.Gln174Leu) c.260A>T (p.Gln87Leu) | |
| 11 | g.116836025T>C | CA382715071 | APOA1 | c.587A>G (p.Gln196Arg) c.521A>G (p.Gln174Arg) c.260A>G (p.Gln87Arg) | gnomAD v4 |
| 11 | g.116836025T>G | CA6289778 | APOA1 | c.587A>C (p.Gln196Pro) c.521A>C (p.Gln174Pro) c.260A>C (p.Gln87Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116836025T= | CA2002761848 | APOA1 | c.587A= (p.Gln196=) c.521A= (p.Gln174=) c.260A= (p.Gln87=) | |
| 11 | g.116836026G>A | CA382715072 | APOA1 | c.586C>T (p.Gln196Ter) c.520C>T (p.Gln174Ter) c.259C>T (p.Gln87Ter) | gnomAD v4 |
| 11 | g.116836026G>C | CA382715073 | APOA1 | c.586C>G (p.Gln196Glu) c.520C>G (p.Gln174Glu) c.259C>G (p.Gln87Glu) | |
| 11 | g.116836026G>T | CA382715075 | APOA1 | c.586C>A (p.Gln196Lys) c.520C>A (p.Gln174Lys) c.259C>A (p.Gln87Lys) | gnomAD v4 |
| 11 | g.116836027G>A | CA477048651 | APOA1 | c.585C>T (p.Arg195=) c.519C>T (p.Arg173=) c.258C>T (p.Arg86=) | dbSNP |
| 11 | g.116836027G>C | CA477048652 | APOA1 | c.585C>G (p.Arg195=) c.519C>G (p.Arg173=) c.258C>G (p.Arg86=) | gnomAD v4 |
| 11 | g.116836027G= | CA2002761849 | APOA1 | c.585C= (p.Arg195=) c.519C= (p.Arg173=) c.258C= (p.Arg86=) | |
| 11 | g.116836027G>T | CA477048653 | APOA1 | c.585C>A (p.Arg195=) c.519C>A (p.Arg173=) c.258C>A (p.Arg86=) | |
| 11 | g.116836028C>A | CA382715080 | APOA1 | c.584G>T (p.Arg195Leu) c.518G>T (p.Arg173Leu) c.257G>T (p.Arg86Leu) | gnomAD v4 |
| 11 | g.116836028C= | CA2002761850 | APOA1 | c.584G= (p.Arg195=) c.518G= (p.Arg173=) c.257G= (p.Arg86=) | |
| 11 | g.116836028C>G | CA382715085 | APOA1 | c.584G>C (p.Arg195Pro) c.518G>C (p.Arg173Pro) c.257G>C (p.Arg86Pro) | |
| 11 | g.116836028C>T | CA382715078 | APOA1 | c.584G>A (p.Arg195His) c.518G>A (p.Arg173His) c.257G>A (p.Arg86His) | dbSNP |
| 11 | g.116836029G>A | CA382715091 | APOA1 | c.583C>T (p.Arg195Cys) c.517C>T (p.Arg173Cys) c.256C>T (p.Arg86Cys) | |
| 11 | g.116836029G>C | CA382715095 | APOA1 | c.583C>G (p.Arg195Gly) c.517C>G (p.Arg173Gly) c.256C>G (p.Arg86Gly) | |
| 11 | g.116836029G>T | CA382715097 | APOA1 | c.583C>A (p.Arg195Ser) c.517C>A (p.Arg173Ser) c.256C>A (p.Arg86Ser) | |
| 11 | g.116836030C>A | CA477048654 | APOA1 | c.582G>T (p.Leu194=) c.516G>T (p.Leu172=) c.255G>T (p.Leu85=) | |
| 11 | g.116836030C= | CA2002761851 | APOA1 | c.582G= (p.Leu194=) c.516G= (p.Leu172=) c.255G= (p.Leu85=) | |
| 11 | g.116836030C>G | CA6289779 | APOA1 | c.582G>C (p.Leu194=) c.516G>C (p.Leu172=) c.255G>C (p.Leu85=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116836030C>T | CA477048655 | APOA1 | c.582G>A (p.Leu194=) c.516G>A (p.Leu172=) c.255G>A (p.Leu85=) | |
| 11 | g.116836031A>C | CA382715102 | APOA1 | c.581T>G (p.Leu194Arg) c.515T>G (p.Leu172Arg) c.254T>G (p.Leu85Arg) | |
| 11 | g.116836031A>G | CA382715107 | APOA1 | c.581T>C (p.Leu194Pro) c.515T>C (p.Leu172Pro) c.254T>C (p.Leu85Pro) | |
| 11 | g.116836031A>T | CA382715109 | APOA1 | c.581T>A (p.Leu194Gln) c.515T>A (p.Leu172Gln) c.254T>A (p.Leu85Gln) | gnomAD v4 |
| 11 | g.116836032G>A | CA477048656 | APOA1 | c.580C>T (p.Leu194=) c.514C>T (p.Leu172=) c.253C>T (p.Leu85=) | |
| 11 | g.116836032G>C | CA382715112 | APOA1 | c.580C>G (p.Leu194Val) c.514C>G (p.Leu172Val) c.253C>G (p.Leu85Val) | gnomAD v4 |
| 11 | g.116836032G>T | CA382715118 | APOA1 | c.580C>A (p.Leu194Met) c.514C>A (p.Leu172Met) c.253C>A (p.Leu85Met) | |
| 11 | g.116836033C>A | CA382715121 | APOA1 | c.579G>T (p.Glu193Asp) c.513G>T (p.Glu171Asp) c.252G>T (p.Glu84Asp) | |
| 11 | g.116836033C>G | CA382715129 | APOA1 | c.579G>C (p.Glu193Asp) c.513G>C (p.Glu171Asp) c.252G>C (p.Glu84Asp) | |
| 11 | g.116836033C>T | CA477048657 | APOA1 | c.579G>A (p.Glu193=) c.513G>A (p.Glu171=) c.252G>A (p.Glu84=) | |
| 11 | g.116836034T>A | CA382715138 | APOA1 | c.578A>T (p.Glu193Val) c.512A>T (p.Glu171Val) c.251A>T (p.Glu84Val) | |
| 11 | g.116836034T>C | CA382715134 | APOA1 | c.578A>G (p.Glu193Gly) c.512A>G (p.Glu171Gly) c.251A>G (p.Glu84Gly) | |
| 11 | g.116836034T>G | CA382715133 | APOA1 | c.578A>C (p.Glu193Ala) c.512A>C (p.Glu171Ala) c.251A>C (p.Glu84Ala) | |
| 11 | g.116836035C>A | CA382715141 | APOA1 | c.577G>T (p.Glu193Ter) c.511G>T (p.Glu171Ter) c.250G>T (p.Glu84Ter) | ClinVar gnomAD v4 |
| 11 | g.116836035C= | CA2002761852 | APOA1 | c.577G= (p.Glu193=) c.511G= (p.Glu171=) c.250G= (p.Glu84=) | |
| 11 | g.116836035C>G | CA382715144 | APOA1 | c.577G>C (p.Glu193Gln) c.511G>C (p.Glu171Gln) c.250G>C (p.Glu84Gln) | gnomAD v4 |
| 11 | g.116836035C>T | CA6289780 | APOA1 | c.577G>A (p.Glu193Lys) c.511G>A (p.Glu171Lys) c.250G>A (p.Glu84Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.116836036G>A | CA477048658 | APOA1 | c.576C>T (p.Asp192=) c.510C>T (p.Asp170=) c.249C>T (p.Asp83=) | gnomAD v4 |
| 11 | g.116836036G>C | CA6289781 | APOA1 | c.576C>G (p.Asp192Glu) c.510C>G (p.Asp170Glu) c.249C>G (p.Asp83Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116836036G= | CA2002761853 | APOA1 | c.576C= (p.Asp192=) c.510C= (p.Asp170=) c.249C= (p.Asp83=) | |
| 11 | g.116836036G>T | CA382715146 | APOA1 | c.576C>A (p.Asp192Glu) c.510C>A (p.Asp170Glu) c.249C>A (p.Asp83Glu) | |
| 11 | g.116836037T>A | CA229324113 | APOA1 | c.575A>T (p.Asp192Val) c.509A>T (p.Asp170Val) c.248A>T (p.Asp83Val) | dbSNP |
| 11 | g.116836037T>C | CA382715147 | APOA1 | c.575A>G (p.Asp192Gly) c.509A>G (p.Asp170Gly) c.248A>G (p.Asp83Gly) | |
| 11 | g.116836037T>G | CA382715149 | APOA1 | c.575A>C (p.Asp192Ala) c.509A>C (p.Asp170Ala) c.248A>C (p.Asp83Ala) | |
| 11 | g.116836037T= | CA2002761854 | APOA1 | c.575A= (p.Asp192=) c.509A= (p.Asp170=) c.248A= (p.Asp83=) | |
| 11 | g.116836038C>A | CA382715151 | APOA1 | c.574G>T (p.Asp192Tyr) c.508G>T (p.Asp170Tyr) c.247G>T (p.Asp83Tyr) | |
| 11 | g.116836038C= | CA2002761855 | APOA1 | c.574G= (p.Asp192=) c.508G= (p.Asp170=) c.247G= (p.Asp83=) | |
| 11 | g.116836038C>G | CA382715153 | APOA1 | c.574G>C (p.Asp192His) c.508G>C (p.Asp170His) c.247G>C (p.Asp83His) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116836038C>T | CA6289782 | APOA1 | c.574G>A (p.Asp192Asn) c.508G>A (p.Asp170Asn) c.247G>A (p.Asp83Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116836039G>A | CA477048659 | APOA1 | c.573C>T (p.Ser191=) c.507C>T (p.Ser169=) c.246C>T (p.Ser82=) | |
| 11 | g.116836039G>C | CA382715156 | APOA1 | c.573C>G (p.Ser191Arg) c.507C>G (p.Ser169Arg) c.246C>G (p.Ser82Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116836039G= | CA2002761856 | APOA1 | c.573C= (p.Ser191=) c.507C= (p.Ser169=) c.246C= (p.Ser82=) | |
| 11 | g.116836039G>T | CA382715157 | APOA1 | c.573C>A (p.Ser191Arg) c.507C>A (p.Ser169Arg) c.246C>A (p.Ser82Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116836040C>A | CA382715162 | APOA1 | c.572G>T (p.Ser191Ile) c.506G>T (p.Ser169Ile) c.245G>T (p.Ser82Ile) | gnomAD v4 |
| 11 | g.116836040C= | CA2002761857 | APOA1 | c.572G= (p.Ser191=) c.506G= (p.Ser169=) c.245G= (p.Ser82=) | |
| 11 | g.116836040C>G | CA382715163 | APOA1 | c.572G>C (p.Ser191Thr) c.506G>C (p.Ser169Thr) c.245G>C (p.Ser82Thr) | |
| 11 | g.116836040C>T | CA382715160 | APOA1 | c.572G>A (p.Ser191Asn) c.506G>A (p.Ser169Asn) c.245G>A (p.Ser82Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116836041T>A | CA382715169 | APOA1 | c.571A>T (p.Ser191Cys) c.505A>T (p.Ser169Cys) c.244A>T (p.Ser82Cys) | |
| 11 | g.116836041T>C | CA382715165 | APOA1 | c.571A>G (p.Ser191Gly) c.505A>G (p.Ser169Gly) c.244A>G (p.Ser82Gly) | |
| 11 | g.116836041T>G | CA382715167 | APOA1 | c.571A>C (p.Ser191Arg) c.505A>C (p.Ser169Arg) c.244A>C (p.Ser82Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116836041T= | CA2002761858 | APOA1 | c.571A= (p.Ser191=) c.505A= (p.Ser169=) c.244A= (p.Ser82=) | |
| 11 | g.116836042G>A | CA477048661 | APOA1 | c.570C>T (p.Tyr190=) c.504C>T (p.Tyr168=) c.243C>T (p.Tyr81=) | |
| 11 | g.116836042G>C | CA382715171 | APOA1 | c.570C>G (p.Tyr190Ter) c.504C>G (p.Tyr168Ter) c.243C>G (p.Tyr81Ter) | |
| 11 | g.116836042G>T | CA382715172 | APOA1 | c.570C>A (p.Tyr190Ter) c.504C>A (p.Tyr168Ter) c.243C>A (p.Tyr81Ter) | gnomAD v4 |
| 11 | g.116836043T>A | CA382715174 | APOA1 | c.569A>T (p.Tyr190Phe) c.503A>T (p.Tyr168Phe) c.242A>T (p.Tyr81Phe) | |
| 11 | g.116836043T>C | CA382715175 | APOA1 | c.569A>G (p.Tyr190Cys) c.503A>G (p.Tyr168Cys) c.242A>G (p.Tyr81Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116836043T>G | CA382715177 | APOA1 | c.569A>C (p.Tyr190Ser) c.503A>C (p.Tyr168Ser) c.242A>C (p.Tyr81Ser) | |
| 11 | g.116836043T= | CA2002761859 | APOA1 | c.569A= (p.Tyr190=) c.503A= (p.Tyr168=) c.242A= (p.Tyr81=) | |
| 11 | g.116836044A>C | CA382715180 | APOA1 | c.568T>G (p.Tyr190Asp) c.502T>G (p.Tyr168Asp) c.241T>G (p.Tyr81Asp) | |
| 11 | g.116836044A>G | CA382715181 | APOA1 | c.568T>C (p.Tyr190His) c.502T>C (p.Tyr168His) c.241T>C (p.Tyr81His) | gnomAD v4 |
| 11 | g.116836044A>T | CA382715182 | APOA1 | c.568T>A (p.Tyr190Asn) c.502T>A (p.Tyr168Asn) c.241T>A (p.Tyr81Asn) | |
| 11 | g.116836044_116836045delinsAG | CA2002761860 | APOA1 | c.567_568delinsCT (p.Pro189=) c.501_502delinsCT (p.Pro167=) c.240_241delinsCT (p.Pro80=) | |
| 11 | g.116836045G>A | CA477048664 | APOA1 | c.567C>T (p.Pro189=) c.501C>T (p.Pro167=) c.240C>T (p.Pro80=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116836045G>C | CA477048665 | APOA1 | c.567C>G (p.Pro189=) c.501C>G (p.Pro167=) c.240C>G (p.Pro80=) | dbSNP gnomAD v2 |
| 11 | g.116836045G= | CA2002761861 | APOA1 | c.567C= (p.Pro189=) c.501C= (p.Pro167=) c.240C= (p.Pro80=) | |
| 11 | g.116836045G>T | CA477048666 | APOA1 | c.567C>A (p.Pro189=) c.501C>A (p.Pro167=) c.240C>A (p.Pro80=) | |
| 11 | g.116836049del | CA2002761862 | APOA1 | c.567del (p.Tyr190ThrfsTer?) c.501del (p.Tyr168ThrfsTer?) c.240del (p.Tyr81ThrfsTer?) | dbSNP gnomAD v4 |
| 11 | g.116836046G>A | CA382715185 | APOA1 | c.566C>T (p.Pro189Leu) c.500C>T (p.Pro167Leu) c.239C>T (p.Pro80Leu) | |
| 11 | g.116836046G>C | CA127558 | APOA1 | c.566C>G (p.Pro189Arg) c.500C>G (p.Pro167Arg) c.239C>G (p.Pro80Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116836046G= | CA2002761863 | APOA1 | c.566C= (p.Pro189=) c.500C= (p.Pro167=) c.239C= (p.Pro80=) | |
| 11 | g.116836046G>T | CA382715187 | APOA1 | c.566C>A (p.Pro189His) c.500C>A (p.Pro167His) c.239C>A (p.Pro80His) | |
| 11 | g.116836047G>A | CA382715189 | APOA1 | c.565C>T (p.Pro189Ser) c.499C>T (p.Pro167Ser) c.238C>T (p.Pro80Ser) | dbSNP gnomAD v4 |
| 11 | g.116836047G>C | CA382715192 | APOA1 | c.565C>G (p.Pro189Ala) c.499C>G (p.Pro167Ala) c.238C>G (p.Pro80Ala) | |
| 11 | g.116836047G= | CA2002761864 | APOA1 | c.565C= (p.Pro189=) c.499C= (p.Pro167=) c.238C= (p.Pro80=) | |
| 11 | g.116836047G>T | CA382715190 | APOA1 | c.565C>A (p.Pro189Thr) c.499C>A (p.Pro167Thr) c.238C>A (p.Pro80Thr) | dbSNP gnomAD v4 |
| 11 | g.116836048G>A | CA477048670 | APOA1 | c.564C>T (p.Ala188=) c.498C>T (p.Ala166=) c.237C>T (p.Ala79=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116836048G>C | CA6289783 | APOA1 | c.564C>G (p.Ala188=) c.498C>G (p.Ala166=) c.237C>G (p.Ala79=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116836048G= | CA2002761865 | APOA1 | c.564C= (p.Ala188=) c.498C= (p.Ala166=) c.237C= (p.Ala79=) | |
| 11 | g.116836048G>T | CA229324124 | APOA1 | c.564C>A (p.Ala188=) c.498C>A (p.Ala166=) c.237C>A (p.Ala79=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116836049_116836062dup | CA2739271021 | APOA1 | c.551_564dup (p.Pro189AlafsTer?) c.485_498dup (p.Pro167AlafsTer?) c.224_237dup (p.Pro80AlafsTer?) | ClinVar |
| 11 | g.116836049G>A | CA229324129 | APOA1 | c.563C>T (p.Ala188Val) c.497C>T (p.Ala166Val) c.236C>T (p.Ala79Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116836049G>C | CA382715195 | APOA1 | c.563C>G (p.Ala188Gly) c.497C>G (p.Ala166Gly) c.236C>G (p.Ala79Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116836049G= | CA2002761866 | APOA1 | c.563C= (p.Ala188=) c.497C= (p.Ala166=) c.236C= (p.Ala79=) | |
| 11 | g.116836049G>T | CA382715197 | APOA1 | c.563C>A (p.Ala188Asp) c.497C>A (p.Ala166Asp) c.236C>A (p.Ala79Asp) | gnomAD v4 |
| 11 | g.116836050C>A | CA6289784 | APOA1 | c.562G>T (p.Ala188Ser) c.496G>T (p.Ala166Ser) c.235G>T (p.Ala79Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116836050C= | CA2002761867 | APOA1 | c.562G= (p.Ala188=) c.496G= (p.Ala166=) c.235G= (p.Ala79=) | |
| 11 | g.116836050C>G | CA382715199 | APOA1 | c.562G>C (p.Ala188Pro) c.496G>C (p.Ala166Pro) c.235G>C (p.Ala79Pro) | |
| 11 | g.116836050C>T | CA382715201 | APOA1 | c.562G>A (p.Ala188Thr) c.496G>A (p.Ala166Thr) c.235G>A (p.Ala79Thr) | |
| 11 | g.116836051C>A | CA477048674 | APOA1 | c.561G>T (p.Leu187=) c.495G>T (p.Leu165=) c.234G>T (p.Leu78=) | |
| 11 | g.116836051C= | CA2002761868 | APOA1 | c.561G= (p.Leu187=) c.495G= (p.Leu165=) c.234G= (p.Leu78=) | |
| 11 | g.116836051C>G | CA229324130 | APOA1 | c.561G>C (p.Leu187=) c.495G>C (p.Leu165=) c.234G>C (p.Leu78=) | dbSNP gnomAD v4 |
| 11 | g.116836051C>T | CA477048675 | APOA1 | c.561G>A (p.Leu187=) c.495G>A (p.Leu165=) c.234G>A (p.Leu78=) | |
| 11 | g.116836052A= | CA2002761869 | APOA1 | c.560T= (p.Leu187=) c.494T= (p.Leu165=) c.233T= (p.Leu78=) | |
| 11 | g.116836052A>C | CA382715203 | APOA1 | c.560T>G (p.Leu187Arg) c.494T>G (p.Leu165Arg) c.233T>G (p.Leu78Arg) | |
| 11 | g.116836052A>G | CA382715205 | APOA1 | c.560T>C (p.Leu187Pro) c.494T>C (p.Leu165Pro) c.233T>C (p.Leu78Pro) | dbSNP |
| 11 | g.116836052A>T | CA382715206 | APOA1 | c.560T>A (p.Leu187Gln) c.494T>A (p.Leu165Gln) c.233T>A (p.Leu78Gln) | |
| 11 | g.116836053G>A | CA229324137 | APOA1 | c.559C>T (p.Leu187=) c.493C>T (p.Leu165=) c.232C>T (p.Leu78=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116836053G>C | CA382715210 | APOA1 | c.559C>G (p.Leu187Val) c.493C>G (p.Leu165Val) c.232C>G (p.Leu78Val) | gnomAD v4 |
| 11 | g.116836053G= | CA2002761870 | APOA1 | c.559C= (p.Leu187=) c.493C= (p.Leu165=) c.232C= (p.Leu78=) | |
| 11 | g.116836053G>T | CA382715208 | APOA1 | c.559C>A (p.Leu187Met) c.493C>A (p.Leu165Met) c.232C>A (p.Leu78Met) | |
| 11 | g.116836054A>C | CA382715212 | APOA1 | c.558T>G (p.His186Gln) c.492T>G (p.His164Gln) c.231T>G (p.His77Gln) | |
| 11 | g.116836054A>G | CA477048679 | APOA1 | c.558T>C (p.His186=) c.492T>C (p.His164=) c.231T>C (p.His77=) | |
| 11 | g.116836054A>T | CA382715214 | APOA1 | c.558T>A (p.His186Gln) c.492T>A (p.His164Gln) c.231T>A (p.His77Gln) | |
| 11 | g.116836055T>A | CA382715216 | APOA1 | c.557A>T (p.His186Leu) c.491A>T (p.His164Leu) c.230A>T (p.His77Leu) | gnomAD v4 |
| 11 | g.116836055T>C | CA229324150 | APOA1 | c.557A>G (p.His186Arg) c.491A>G (p.His164Arg) c.230A>G (p.His77Arg) | dbSNP |
| 11 | g.116836055T>G | CA382715219 | APOA1 | c.557A>C (p.His186Pro) c.491A>C (p.His164Pro) c.230A>C (p.His77Pro) | |
| 11 | g.116836055T= | CA2002761871 | APOA1 | c.557A= (p.His186=) c.491A= (p.His164=) c.230A= (p.His77=) | |
| 11 | g.116836056G>A | CA382715223 | APOA1 | c.556C>T (p.His186Tyr) c.490C>T (p.His164Tyr) c.229C>T (p.His77Tyr) | |
| 11 | g.116836056G>C | CA382715224 | APOA1 | c.556C>G (p.His186Asp) c.490C>G (p.His164Asp) c.229C>G (p.His77Asp) | |
| 11 | g.116836056G>T | CA382715226 | APOA1 | c.556C>A (p.His186Asn) c.490C>A (p.His164Asn) c.229C>A (p.His77Asn) | |
| 11 | g.116836059_116836081dup | CA602136490 | APOA1 | c.534_556dup (p.His186ProfsTer?) c.468_490dup (p.His164ProfsTer?) c.207_229dup (p.His77ProfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116836057C>A | CA477048681 | APOA1 | c.555G>T (p.Thr185=) c.489G>T (p.Thr163=) c.228G>T (p.Thr76=) | gnomAD v4 |
| 11 | g.116836057C= | CA2002761872 | APOA1 | c.555G= (p.Thr185=) c.489G= (p.Thr163=) c.228G= (p.Thr76=) | |
| 11 | g.116836057C>G | CA6289785 | APOA1 | c.555G>C (p.Thr185=) c.489G>C (p.Thr163=) c.228G>C (p.Thr76=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116836057C>T | CA477048682 | APOA1 | c.555G>A (p.Thr185=) c.489G>A (p.Thr163=) c.228G>A (p.Thr76=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116836058G>A | CA382715229 | APOA1 | c.554C>T (p.Thr185Met) c.488C>T (p.Thr163Met) c.227C>T (p.Thr76Met) | ClinVar gnomAD v4 |
| 11 | g.116836058G>C | CA382715231 | APOA1 | c.554C>G (p.Thr185Arg) c.488C>G (p.Thr163Arg) c.227C>G (p.Thr76Arg) | |
| 11 | g.116836058G>T | CA382715233 | APOA1 | c.554C>A (p.Thr185Lys) c.488C>A (p.Thr163Lys) c.227C>A (p.Thr76Lys) | |
| 11 | g.116836059T>A | CA382715236 | APOA1 | c.553A>T (p.Thr185Ser) c.487A>T (p.Thr163Ser) c.226A>T (p.Thr76Ser) | |
| 11 | g.116836059T>C | CA382715238 | APOA1 | c.553A>G (p.Thr185Ala) c.487A>G (p.Thr163Ala) c.226A>G (p.Thr76Ala) | |
| 11 | g.116836059T>G | CA382715234 | APOA1 | c.553A>C (p.Thr185Pro) c.487A>C (p.Thr163Pro) c.226A>C (p.Thr76Pro) | |
| 11 | g.116836060G>A | CA477048686 | APOA1 | c.552C>T (p.Arg184=) c.486C>T (p.Arg162=) c.225C>T (p.Arg75=) | |
| 11 | g.116836060G>C | CA477048687 | APOA1 | c.552C>G (p.Arg184=) c.486C>G (p.Arg162=) c.225C>G (p.Arg75=) | |
| 11 | g.116836060G>T | CA477048688 | APOA1 | c.552C>A (p.Arg184=) c.486C>A (p.Arg162=) c.225C>A (p.Arg75=) | |
| 11 | g.116836062_116836106del | CA2695215582 | APOA1 | c.508_552del (p.Glu170_Arg184del) c.442_486del (p.Glu148_Arg162del) c.181_225del (p.Glu61_Arg75del) | |
| 11 | g.116836061C>A | CA6289786 | APOA1 | c.551G>T (p.Arg184Leu) c.485G>T (p.Arg162Leu) c.224G>T (p.Arg75Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116836061C= | CA2002761873 | APOA1 | c.551G= (p.Arg184=) c.485G= (p.Arg162=) c.224G= (p.Arg75=) | |
| 11 | g.116836061C>G | CA229324152 | APOA1 | c.551G>C (p.Arg184Pro) c.485G>C (p.Arg162Pro) c.224G>C (p.Arg75Pro) | dbSNP |
| 11 | g.116836061C>T | CA382715242 | APOA1 | c.551G>A (p.Arg184His) c.485G>A (p.Arg162His) c.224G>A (p.Arg75His) | dbSNP |
| 11 | g.116836062G>A | CA382715244 | APOA1 | c.550C>T (p.Arg184Cys) c.484C>T (p.Arg162Cys) c.223C>T (p.Arg75Cys) | |
| 11 | g.116836062G>C | CA382715246 | APOA1 | c.550C>G (p.Arg184Gly) c.484C>G (p.Arg162Gly) c.223C>G (p.Arg75Gly) | |
| 11 | g.116836062G>T | CA382715248 | APOA1 | c.550C>A (p.Arg184Ser) c.484C>A (p.Arg162Ser) c.223C>A (p.Arg75Ser) |