Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.116830247_116836307delinsAGACAGAGGGCCTGAGGCAGGAGATGAGCAAGGATCTGGAGGAGGTGAAGGCCAAGGTGCAGCCCTACCTGGACGACTTCCAGAAGAAGTGGCAGGAGGAGATGGAGCTCTACCGCCAGAAGGTGGAGCCGCTGCGCGCAGAGCTCCAAGAGGGCGCGCGCCAGAAGCTGCACGAGCTGCAAGAGAAGCTGAGCCCACTGGGCGAGGAGATGCGCGACCGCGCGCGCGCCCATGTGGACGCGCTGCGCACGCATCTGGCCCCCTACAGCGACGAGCTGCGCCAGCGCTTGGCCGCGCGCCTTGAGGCTCTCAAGGAGAACGGCGGCGCCAGACTGGCCGAGTACCACGCCAAGGCCACCGAGCATCTGAGCACGCTCAGCGAGAAGGCCAAGCCCGCGCTCGAGGACCTCCGCCAAGGCCTGCTGCCCGTGCTGGAGAGCTTCAAGGTCAGCTTCCTGAGCGCTCTCGAGGAGTACACTAAGAAGCTCAACACCCAGTGAGGCGCCCGCCGCCGCCCCCCTTCCCGGTGCTCAGAATAAACGTTTCCAAAGTGGGAAGCAGCTTCTTTCTTTTGGGAGAATAGAGGGGGGTGCGGGGACATCCGGGGGAGCCCGGGTGGGGCCTTTGGCCCTGGAGCAGGGACTTCCTGCCGGATCTCAACAACTCCGTGCCCAGACTGGACGTCTTAGGGCCAAGATCGACGTTGGAGGACCTGCTGGACGCCTGGCTGCTTACGAGTGAGGGAGTAGAGTCTGCCTTAGCAAGGCTCAAGTAGAAAGGAAGTCACAGCGGACCAGGCAAAGCCACAGACAATCCAAGGCCAGGTGCCCTGAAAGGGGCTCAAACAAGGCCTGCAGCCCTGTCTGAGGCGGGCCAGGAAACAGGGTTGCTTTAGCTGGGAGCAGTGGGTTCCCCGTCCCCAGAGGTGTGTCCGTATAGAGCCTTCTCCAGCCCAGCCGCTGTCAGCGGGGCGGGACGGAGCGGGGCGGCCTCAGGGAGCCAGCCACTGGGATTGGGGTTTGGTCCCGGGTGCAAGTGAAGCGCTTGGAGTTTGCGCCTGTCCTCCTTTACTAATTCAAAAACCTCTCAAACAGACACTTCCCTTTTCTTCTCACAAGGCCAGTATCCCCCTCCCACTACTCCCATCCCGCCCAGAAACAGCCGCGGCTTCCTCAGGCACAGCAGTGGAAGCCAGTCCTCCACCCCCTGCGGCTCCATGCCATGCCACCCCCTCTTTCTGCCAGCCCTGGCAGAAGCTGGCCTGAGTAAGAAAATTCACCACCACCTCTTGCAGGTACATTTTTATTTCCAAGATGCTCTCATATCTGTGCTCTCACTGCATCCTCCCTTCCCCACATCCTGGCTAGATTGCCATCAGACGCAGAGCATGGATGAGGACACTGAAGCCTGGACCTGTGACGTCGCTTGCCCAGTGAACAGCAGGATGGGCTAGGCCGCGCTTTTTAGACCCTGCACCCCTGGCCATCCATGATTATTGAAAAGAGTGCGCGGGTCGGGTGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGTATCACTTCAGGCCAGGAGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATCAGCTGGGCATGGTGGCTTGCACCCGTAATCCCAGCTACTAGGAAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTCACAGTGAGCCGAAATCATGCCACTGCACTCCAGCCTGGGCGACGGAGCAAGACTCCAGCTAAAAAAAAAAAAAAAAAAAAAAGAGTGTGTGGCCTGGCACTCAAGTTCACATGGGTGTGCAGGCATGCCTGTGTATTCTCACATGACCTCCCTGCTCACGGTCCCTCCTTGCACTCATGTCTGAATGTCCCCGCGTGCACGCACATGGCTTCACAGATCTGGGCAGTGCCTTCCCTACCCTCTCTCTGCAGGGCCTTTTGCCCCCTCATGCAGGCCCCTGGATAATCGGCCCCATCCCCATGTCCCCATCTCCAGTGTATCTTAGCTACCCTAGGTAAAGGAGTGGGCTTTTTAGTTCCTAACCTTCCAGAGCTACAACAGCAGTCATCCAGCCAGGTCTGGGTGGGAACATTTTCTAGATACGGGTGCTGAGATCTCTCAGCCCAGAGAGAAGCCCTGGGGAATTTTCAGAGAGAAAGCAGTCTCCAGGTGGGGCTGGATGTACTGATGCCACTGAGATCTGTAAAGGAGTCCCTAACACCTGACATAGGAGTGACAAAACTGTTTTCTGCACCAACTGAGCAGAATACACGCAGCTGACCTGGGCTCAAGGTCTGGCCCTGCCACGTGCTGGCTCTGTGATGCTGGCCAAGTGCCTTCGCCTCTCCGGGCCACAGTTTTTTGATCTGAAGAGTGGAGCCCTACTCAAGCCATCTGCAGCTCTCGGGCTCTCTGACCTGACATCTTTCGGGTGGTGGGGACACAAAGGAAGCAGCCTCTATTGGGAGACCTTGTGCTTCTTTTTGGTCCCAGGACACTGCCCCCCACCACTCCAGTCCGGGTCCCAAGGGCCCAGTCAGCTCAACTGTAATCATGACAACATTGATCAAGCATCTTTACGTGCAGGTGCTGTGCCAAACGGTTCGAACGCTCTCTCATTTCAATCTCACGGCAAACCTACGGTGGAGGGGGTACGGTTGTATCCACTTTACATGTAAGAAACTGAGGCTGATATCAAGTGGTGGAGCCAAGAATAGTGCCTCGTTGCATCTTACTCCAACCTCTAGCCCATCCGGCCTCCTCCCTTCACGTGCGCCTAAGAGGGCTAGGGGGCCTGGATAGGGGAGGTCAGCTCCACAGTTTTGAGTAAACACACACAGTCTCAACTCTGATGACAACTTAAGTGCCAGGCATAGTGGCTGGCATGGGGCACACACTCAAGTCATGTTGTGCAGCACCTAACAGTTTATCAAAGTATCAGCAAACTTATTGTCCTGTTTGACCTTCCGCACAAAGCTGTCAAGGAAGGCAGGGTACGGAGGGTGATTCCTACCTTAGAGATGAAGAAACTGAGGCCCAGAGACTGCCCAGCTACCAGAAGGTGGATAGAGCGCTGGCCTCCATGCCTGCCTGACCTGGAGTCTGTCCAGTGCCCACCCACAGAACAGCCTCGGCCCTTTCCCATGCCCAGACACAGATGGCACACTTGCGACGGCCCACTCATAGCAGCTTCTTGTCCAGCTTTATTGGGAGGCCAGCATGCCTGGAGGGGGGCCAGGCATGAGGTGGGGTAGGAGAGCACTGAGAATACTGTCCCTTTTAAGCAACCTACAGGGGCAGCCCTGGAGATTGCAGGACCCAAGGAGCTCGCAGGATGGATAGGCAGGTGGACTTGGGGTATTGAGGTCTCAGGCAGCCACGGCTGAAGTTGGTCTGACCTCAGGGTCCAAATCCCAGAACTCAGAGAACTTGTCCTTAACGGTGCTCCAGTAGTCTTTCAGGGAACTGAAGCCATCGGTCACCCAGCCCCTAAATCAGTCAGGGGAAGCAACAGAGCAGGGCATGAGAACTCCTCTGTAGGCAACCATGGGACCCACACCCATGTCCCCACTGGACGACACCAGTCAGGACCACACCACCCTCTCAACTTCACTGGACGACAGCCCTGAGACCTCAGGCAGGAATCCCCCACAGCTGCCACCCTGGGAGAAGAGATATCCTTGCAGGAACCCCAGCACAAGTCAAACCCTGCCATCTCCAGGTCACCTCAGATGTTTATGCCCCTGGGCCTGAGGCACAAAGTGACAGGGTGGGGAGATGTGAAAGGTCAAGGCTGTCATTGTTTTCTGTGCAAACAGCACCGCCTGGAGTTGCACAACCTGGTGGCTCTGAGCAGGGTAGGACAGAGGGAGGCAGCCTCTCATTTGGAAAGTCATTGGAGGATTGATTAGTTGTGTGATCTGGGGCAGGTCACCTAATCGCTCTGAGCCTCAATTTTCTCATCTGCAAAGTGAGAAAATAACACCTACCCCAAAGCCGGTTCTGGGGACTAAGAATGTTTATGAACACCTCTGCTATGCCAGCTAATGCCAGTCAGGGTGAGGTGGAGAAGGGAGTAGGGGAGAGGAGAGTACTGATGGGCAGGGGCAGGATGGGAGAGGAAGGACACACTTCTGCTCACACTGGCCCCAGGTCTTAGAACAAAGCAGAAGCACTCACGGGCTTGAATTGGGTCAGGTGGGGCCTCCCAAGGCAAACCCCTAGCCCAGGGGTCCCCAACCCCCAAGTCATAGATAGGTACTGGTCCATGGACTGTTAGGAGCCGGGCTGCACAGCACGAAGTGAGTGGTGGGTGAGTGAGCAATACCGCCTGAGCTCCGCCTCCTGTCAGATCAAGTGGCCTTACATTCTCATAGGAGTGTGAACCCTATTGTGAACTGCACATGCCAGGGATCTAGGTGGAGGGCTCCTTATGAGAATCTAATGCCTGATGATCTGAGGTGGAACAGCTTCATCCCAAAACCATCCCCGCTGGCCCATGGAAAAATTGTCCACCACAAAACTGGTCCCTGGTGCCAAAAAGGCTGAGGACCACTGCTCTAGCCAGACCTTCAGAAAAGGAAAATGGGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCCCCTGAGGTCAGGAATTCAAGACCAACCTGGCCAACATGGTGAAACCCCATCTCTGCTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGGTTGAACCCGGGAGACGGAGGTTGCAGTGAGCCGAGATGGCACCACTGCACTCCAGCCTAGGTGACAGAGGGAGACTCCATTAAAAAAAAAAGAAGAAGAAAGAAAGAGAGAAAGGAAGAGAGGGAAAGAAAGAAAAAGGAAAGAAAGAAAGAAAGAGAAAGAAAGGAAAGAAAGAAAGAAAGGAAAGAAAGAAAGGAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAATAGAAAGAGAAAGAAAGGGAAAGGAAAGGAAAATGGAAATGAGGGCTAAAACGGCACGCCCTAGGACTGCTCCGGGGAGAAAGGAGGGACCTGGGAGGAATGCAGTCTCAACTCTGTCATCTCTCCCGCAGCAGCCTGACAAAGGCCCTGTGAGGAAAGAGGAGGCTGAAGAGGCACAGGCCCAGGGGAGGCTGGAGCACCTCCATTCCATTGTTGGGATCTCACCAGGGCAGGGGCGGGTGGGAATGGAGGCAGCTGGCAGGGGGGATGGGGAGGGAGGCCAGCGGGTGTACCTGGCCTGCTGGGCCACCTGGGACTCCTGCACGCTGCTCAGTGCATCCTTGGCGGTCTTGGTGGCGTGCTTCATGTAACCCTGCATGAAGCTGAGAAGGGAGGCATCCTCGGCCTCTGAAGCTCCTGAGGAAAGAGCAGGGCTGAGTGGGGTGGATCGGCCTCTGGACGAGCCCTGGGCTCCTGCTTGACCACCCATTGGGACTGGGATCCCCAAGTTGCCTCCACCCTGCCCCCAGCCCAGTCCCACCAAGTGCTTACGGGCAGAGGCCAGGAGCGCCAGGAGGGCAACAACAAGGAGTACCCGGGGCTGCATGGCACCTCTGTTCCTGCAAGGAAGTGTCCTGTGAGGGGCACCCCAGGTCCCCATGCCTCTGGACCCCTCCCTGGGGAGGTGGCGTGGCCCCTAAGGTAGAACCTTAGCTGGGTCTGCCAGAAGGAGTAGGGGCCGGCTCCCTGCTAATACGGGCTCTCAGAAGGGGGACTGGTGAGGGGCGAGGGATCGAGGCCCAAAGGGAGGTGGGTGGGATGGAGCAGAAAACCCACCAGACTGAACATCAAGGCACCTGCGGTCTGGACTGATCTCCGTCCAGTCCAGCCAACATGCTGTGTGTCTTTGGGTGATTTCTGGCCCTCTCCAGGCCTCAGTTTC | CA2697558960 | ClinVar | ||
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.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) | ClinVar |
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) | |
11 | g.116836063C>A | CA477048689 | APOA1 | c.549G>T (p.Leu183=) c.483G>T (p.Leu161=) c.222G>T (p.Leu74=) | |
11 | g.116836063C= | CA2002761874 | APOA1 | c.549G= (p.Leu183=) c.483G= (p.Leu161=) c.222G= (p.Leu74=) | |
11 | g.116836063C>G | CA477048690 | APOA1 | c.549G>C (p.Leu183=) c.483G>C (p.Leu161=) c.222G>C (p.Leu74=) | |
11 | g.116836063C>T | CA6289787 | APOA1 | c.549G>A (p.Leu183=) c.483G>A (p.Leu161=) c.222G>A (p.Leu74=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.116836064A>C | CA382715251 | APOA1 | c.548T>G (p.Leu183Arg) c.482T>G (p.Leu161Arg) c.221T>G (p.Leu74Arg) | |
11 | g.116836064A>G | CA382715255 | APOA1 | c.548T>C (p.Leu183Pro) c.482T>C (p.Leu161Pro) c.221T>C (p.Leu74Pro) | ClinVar |
11 | g.116836064A>T | CA382715253 | APOA1 | c.548T>A (p.Leu183Gln) c.482T>A (p.Leu161Gln) c.221T>A (p.Leu74Gln) | |
11 | g.116836064_116836074delinsAGCGCGTCCAC | CA2002761875 | APOA1 | c.538_548delinsGTGGACGCGCT (p.Val180=) c.472_482delinsGTGGACGCGCT (p.Val158=) c.211_221delinsGTGGACGCGCT (p.Val71=) | |
11 | g.116836065G>A | CA477048691 | APOA1 | c.547C>T (p.Leu183=) c.481C>T (p.Leu161=) c.220C>T (p.Leu74=) | |
11 | g.116836065G>C | CA382715257 | APOA1 | c.547C>G (p.Leu183Val) c.481C>G (p.Leu161Val) c.220C>G (p.Leu74Val) | gnomAD v4 |
11 | g.116836065G>T | CA382715259 | APOA1 | c.547C>A (p.Leu183Met) c.481C>A (p.Leu161Met) c.220C>A (p.Leu74Met) | |
11 | g.116836068_116836069del | CA2695215583 | APOA1 | c.546_547del (p.Leu183AlafsTer20) c.480_481del (p.Leu161AlafsTer20) c.219_220del (p.Leu74AlafsTer20) | |
11 | g.116836065_116836074del | CA942609942 | APOA1 | c.538_547del (p.Val180CysfsTer?) c.472_481del (p.Val158CysfsTer?) c.211_220del (p.Val71CysfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.116836066C>A | CA477048692 | APOA1 | c.546G>T (p.Ala182=) c.480G>T (p.Ala160=) c.219G>T (p.Ala73=) | |
11 | g.116836066C= | CA2002761876 | APOA1 | c.546G= (p.Ala182=) c.480G= (p.Ala160=) c.219G= (p.Ala73=) | |
11 | g.116836066C>G | CA477048693 | APOA1 | c.546G>C (p.Ala182=) c.480G>C (p.Ala160=) c.219G>C (p.Ala73=) | |
11 | g.116836066C>T | CA477048694 | APOA1 | c.546G>A (p.Ala182=) c.480G>A (p.Ala160=) c.219G>A (p.Ala73=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.116836067G>A | CA382715261 | APOA1 | c.545C>T (p.Ala182Val) c.479C>T (p.Ala160Val) c.218C>T (p.Ala73Val) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.116836067G>C | CA382715263 | APOA1 | c.545C>G (p.Ala182Gly) c.479C>G (p.Ala160Gly) c.218C>G (p.Ala73Gly) | |
11 | g.116836067G= | CA2002761877 | APOA1 | c.545C= (p.Ala182=) c.479C= (p.Ala160=) c.218C= (p.Ala73=) | |
11 | g.116836067G>T | CA229324164 | APOA1 | c.545C>A (p.Ala182Glu) c.479C>A (p.Ala160Glu) c.218C>A (p.Ala73Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116836068C>A | CA382715269 | APOA1 | c.544G>T (p.Ala182Ser) c.478G>T (p.Ala160Ser) c.217G>T (p.Ala73Ser) | |
11 | g.116836068C= | CA2002761878 | APOA1 | c.544G= (p.Ala182=) c.478G= (p.Ala160=) c.217G= (p.Ala73=) | |
11 | g.116836068C>G | CA382715268 | APOA1 | c.544G>C (p.Ala182Pro) c.478G>C (p.Ala160Pro) c.217G>C (p.Ala73Pro) | |
11 | g.116836068C>T | CA382715266 | APOA1 | c.544G>A (p.Ala182Thr) c.478G>A (p.Ala160Thr) c.217G>A (p.Ala73Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.116836069G>A | CA477048696 | APOA1 | c.543C>T (p.Asp181=) c.477C>T (p.Asp159=) c.216C>T (p.Asp72=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.116836069G>C | CA382715272 | APOA1 | c.543C>G (p.Asp181Glu) c.477C>G (p.Asp159Glu) c.216C>G (p.Asp72Glu) | |
11 | g.116836069G= | CA2002761879 | APOA1 | c.543C= (p.Asp181=) c.477C= (p.Asp159=) c.216C= (p.Asp72=) | |
11 | g.116836069G>T | CA382715270 | APOA1 | c.543C>A (p.Asp181Glu) c.477C>A (p.Asp159Glu) c.216C>A (p.Asp72Glu) | |
11 | g.116836070T>A | CA382715277 | APOA1 | c.542A>T (p.Asp181Val) c.476A>T (p.Asp159Val) c.215A>T (p.Asp72Val) | |
11 | g.116836070T>C | CA382715274 | APOA1 | c.542A>G (p.Asp181Gly) c.476A>G (p.Asp159Gly) c.215A>G (p.Asp72Gly) | ClinVar dbSNP |
11 | g.116836070T>G | CA382715275 | APOA1 | c.542A>C (p.Asp181Ala) c.476A>C (p.Asp159Ala) c.215A>C (p.Asp72Ala) | |
11 | g.116836071C>A | CA382715279 | APOA1 | c.541G>T (p.Asp181Tyr) c.475G>T (p.Asp159Tyr) c.214G>T (p.Asp72Tyr) | |
11 | g.116836071C>G | CA382715281 | APOA1 | c.541G>C (p.Asp181His) c.475G>C (p.Asp159His) c.214G>C (p.Asp72His) | |
11 | g.116836071C>T | CA382715282 | APOA1 | c.541G>A (p.Asp181Asn) c.475G>A (p.Asp159Asn) c.214G>A (p.Asp72Asn) | gnomAD v4 |
11 | g.116836071_116836088dup | CA2695215584 | APOA1 | c.524_541dup (p.Val180_Asp181insGlyAlaArgAlaHisVal) c.458_475dup (p.Val158_Asp159insGlyAlaArgAlaHisVal) c.197_214dup (p.Val71_Asp72insGlyAlaArgAlaHisVal) | |
11 | g.116836072C>A | CA477048699 | APOA1 | c.540G>T (p.Val180=) c.474G>T (p.Val158=) c.213G>T (p.Val71=) | |
11 | g.116836072C= | CA2002761880 | APOA1 | c.540G= (p.Val180=) c.474G= (p.Val158=) c.213G= (p.Val71=) | |
11 | g.116836072C>G | CA477048701 | APOA1 | c.540G>C (p.Val180=) c.474G>C (p.Val158=) c.213G>C (p.Val71=) | dbSNP gnomAD v2 |
11 | g.116836072C>T | CA477048698 | APOA1 | c.540G>A (p.Val180=) c.474G>A (p.Val158=) c.213G>A (p.Val71=) | |
11 | g.116836073A= | CA2002761881 | APOA1 | c.539T= (p.Val180=) c.473T= (p.Val158=) c.212T= (p.Val71=) | |
11 | g.116836073A>C | CA382715283 | APOA1 | c.539T>G (p.Val180Gly) c.473T>G (p.Val158Gly) c.212T>G (p.Val71Gly) | |
11 | g.116836073A>G | CA382715286 | APOA1 | c.539T>C (p.Val180Ala) c.473T>C (p.Val158Ala) c.212T>C (p.Val71Ala) | ClinVar gnomAD v4 |
11 | g.116836073A>T | CA127580 | APOA1 | c.539T>A (p.Val180Glu) c.473T>A (p.Val158Glu) c.212T>A (p.Val71Glu) | ClinVar dbSNP |
11 | g.116836074C>A | CA382715289 | APOA1 | c.538G>T (p.Val180Leu) c.472G>T (p.Val158Leu) c.211G>T (p.Val71Leu) | |
11 | g.116836074C>G | CA382715290 | APOA1 | c.538G>C (p.Val180Leu) c.472G>C (p.Val158Leu) c.211G>C (p.Val71Leu) | |
11 | g.116836074C>T | CA382715292 | APOA1 | c.538G>A (p.Val180Met) c.472G>A (p.Val158Met) c.211G>A (p.Val71Met) | gnomAD v4 |
11 | g.116836075A= | CA2002761882 | APOA1 | c.537T= (p.His179=) c.471T= (p.His157=) c.210T= (p.His70=) | |
11 | g.116836075A>C | CA382715294 | APOA1 | c.537T>G (p.His179Gln) c.471T>G (p.His157Gln) c.210T>G (p.His70Gln) | ClinVar gnomAD v4 |
11 | g.116836075A>G | CA477048660 | APOA1 | c.537T>C (p.His179=) c.471T>C (p.His157=) c.210T>C (p.His70=) | |
11 | g.116836075A>T | CA382715295 | APOA1 | c.537T>A (p.His179Gln) c.471T>A (p.His157Gln) c.210T>A (p.His70Gln) | dbSNP |
11 | g.116836076T>A | CA382715300 | APOA1 | c.536A>T (p.His179Leu) c.470A>T (p.His157Leu) c.209A>T (p.His70Leu) | |
11 | g.116836076T>C | CA229324176 | APOA1 | c.536A>G (p.His179Arg) c.470A>G (p.His157Arg) c.209A>G (p.His70Arg) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.116836076T>G | CA382715298 | APOA1 | c.536A>C (p.His179Pro) c.470A>C (p.His157Pro) c.209A>C (p.His70Pro) | |
11 | g.116836076T= | CA2002761883 | APOA1 | c.536A= (p.His179=) c.470A= (p.His157=) c.209A= (p.His70=) | |
11 | g.116836077G>A | CA382715302 | APOA1 | c.535C>T (p.His179Tyr) c.469C>T (p.His157Tyr) c.208C>T (p.His70Tyr) | |
11 | g.116836077G>C | CA382715304 | APOA1 | c.535C>G (p.His179Asp) c.469C>G (p.His157Asp) c.208C>G (p.His70Asp) | |
11 | g.116836077G>T | CA382715305 | APOA1 | c.535C>A (p.His179Asn) c.469C>A (p.His157Asn) c.208C>A (p.His70Asn) | |
11 | g.116836079del | CA2616112004 | APOA1 | c.535del (p.His179MetfsTer?) c.469del (p.His157MetfsTer?) c.208del (p.His70MetfsTer?) | gnomAD v4 |
11 | g.116836079_116836090dup | CA672204755 | APOA1 | c.524_535dup (p.Ala178_His179insArgAlaArgAla) c.458_469dup (p.Ala156_His157insArgAlaArgAla) c.197_208dup (p.Ala69_His70insArgAlaArgAla) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.116836078G>A | CA477048662 | APOA1 | c.534C>T (p.Ala178=) c.468C>T (p.Ala156=) c.207C>T (p.Ala69=) | |
11 | g.116836078G>C | CA229324177 | APOA1 | c.534C>G (p.Ala178=) c.468C>G (p.Ala156=) c.207C>G (p.Ala69=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.116836078G= | CA2002761885 | APOA1 | c.534C= (p.Ala178=) c.468C= (p.Ala156=) c.207C= (p.Ala69=) | |
11 | g.116836078G>T | CA477048663 | APOA1 | c.534C>A (p.Ala178=) c.468C>A (p.Ala156=) c.207C>A (p.Ala69=) | |
11 | g.116836078_116836080delinsGGC | CA2002761884 | APOA1 | c.532_534delinsGCC (p.Ala178=) c.466_468delinsGCC (p.Ala156=) c.205_207delinsGCC (p.Ala69=) | |
11 | g.116836079G>A | CA382715308 | APOA1 | c.533C>T (p.Ala178Val) c.467C>T (p.Ala156Val) c.206C>T (p.Ala69Val) | dbSNP gnomAD v4 |
11 | g.116836079G>C | CA382715310 | APOA1 | c.533C>G (p.Ala178Gly) c.467C>G (p.Ala156Gly) c.206C>G (p.Ala69Gly) | |
11 | g.116836079G= | CA2002761886 | APOA1 | c.533C= (p.Ala178=) c.467C= (p.Ala156=) c.206C= (p.Ala69=) | |
11 | g.116836079G>T | CA382715311 | APOA1 | c.533C>A (p.Ala178Asp) c.467C>A (p.Ala156Asp) c.206C>A (p.Ala69Asp) | |
11 | g.116836088_116836089dup | CA658821170 | APOA1 | c.532_533dup (p.His179ProfsTer?) c.466_467dup (p.His157ProfsTer?) c.205_206dup (p.His70ProfsTer?) | ClinVar dbSNP |
11 | g.116836088_116836089del | CA6289788 | APOA1 | c.532_533del (p.Ala178ProfsTer25) c.466_467del (p.Ala156ProfsTer25) c.205_206del (p.Ala69ProfsTer25) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.116836080C>A | CA382715314 | APOA1 | c.532G>T (p.Ala178Ser) c.466G>T (p.Ala156Ser) c.205G>T (p.Ala69Ser) | gnomAD v4 |
11 | g.116836080C>G | CA382715315 | APOA1 | c.532G>C (p.Ala178Pro) c.466G>C (p.Ala156Pro) c.205G>C (p.Ala69Pro) | COSMIC |
11 | g.116836080C>T | CA382715317 | APOA1 | c.532G>A (p.Ala178Thr) c.466G>A (p.Ala156Thr) c.205G>A (p.Ala69Thr) | gnomAD v4 |
11 | g.116836081G>A | CA477048667 | APOA1 | c.531C>T (p.Arg177=) c.465C>T (p.Arg155=) c.204C>T (p.Arg68=) | gnomAD v4 |
11 | g.116836081G>C | CA477048668 | APOA1 | c.531C>G (p.Arg177=) c.465C>G (p.Arg155=) c.204C>G (p.Arg68=) | |
11 | g.116836081G>T | CA477048669 | APOA1 | c.531C>A (p.Arg177=) c.465C>A (p.Arg155=) c.204C>A (p.Arg68=) | gnomAD v4 |
11 | g.116836082C>A | CA382715319 | APOA1 | c.530G>T (p.Arg177Leu) c.464G>T (p.Arg155Leu) c.203G>T (p.Arg68Leu) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.116836082C= | CA2002761887 | APOA1 | c.530G= (p.Arg177=) c.464G= (p.Arg155=) c.203G= (p.Arg68=) | |
11 | g.116836082C>G | CA382715320 | APOA1 | c.530G>C (p.Arg177Pro) c.464G>C (p.Arg155Pro) c.203G>C (p.Arg68Pro) | ClinVar dbSNP |
11 | g.116836082C>T | CA382715322 | APOA1 | c.530G>A (p.Arg177His) c.464G>A (p.Arg155His) c.203G>A (p.Arg68His) | |
11 | g.116836083G>A | CA382715326 | APOA1 | c.529C>T (p.Arg177Cys) c.463C>T (p.Arg155Cys) c.202C>T (p.Arg68Cys) | dbSNP gnomAD v2 COSMIC |
11 | g.116836083G>C | CA382715327 | APOA1 | c.529C>G (p.Arg177Gly) c.463C>G (p.Arg155Gly) c.202C>G (p.Arg68Gly) | |
11 | g.116836083G= | CA2002761888 | APOA1 | c.529C= (p.Arg177=) c.463C= (p.Arg155=) c.202C= (p.Arg68=) | |
11 | g.116836083G>T | CA382715325 | APOA1 | c.529C>A (p.Arg177Ser) c.463C>A (p.Arg155Ser) c.202C>A (p.Arg68Ser) | |
11 | g.116836084C>A | CA477048671 | APOA1 | c.528G>T (p.Ala176=) c.462G>T (p.Ala154=) c.201G>T (p.Ala67=) | gnomAD v4 |
11 | g.116836084C>G | CA477048672 | APOA1 | c.528G>C (p.Ala176=) c.462G>C (p.Ala154=) c.201G>C (p.Ala67=) | gnomAD v4 |
11 | g.116836084C>T | CA477048673 | APOA1 | c.528G>A (p.Ala176=) c.462G>A (p.Ala154=) c.201G>A (p.Ala67=) | COSMIC |
11 | g.116836085G>A | CA6289789 | APOA1 | c.527C>T (p.Ala176Val) c.461C>T (p.Ala154Val) c.200C>T (p.Ala67Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.116836085G>C | CA382715330 | APOA1 | c.527C>G (p.Ala176Gly) c.461C>G (p.Ala154Gly) c.200C>G (p.Ala67Gly) | |
11 | g.116836085G= | CA2002761889 | APOA1 | c.527C= (p.Ala176=) c.461C= (p.Ala154=) c.200C= (p.Ala67=) | |
11 | g.116836085G>T | CA382715332 | APOA1 | c.527C>A (p.Ala176Glu) c.461C>A (p.Ala154Glu) c.200C>A (p.Ala67Glu) | |
11 | g.116836086C>A | CA6289791 | APOA1 | c.526G>T (p.Ala176Ser) c.460G>T (p.Ala154Ser) c.199G>T (p.Ala67Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.116836086C= | CA2002761890 | APOA1 | c.526G= (p.Ala176=) c.460G= (p.Ala154=) c.199G= (p.Ala67=) | |
11 | g.116836086C>G | CA382715335 | APOA1 | c.526G>C (p.Ala176Pro) c.460G>C (p.Ala154Pro) c.199G>C (p.Ala67Pro) | |
11 | g.116836086C>T | CA6289790 | APOA1 | c.526G>A (p.Ala176Thr) c.460G>A (p.Ala154Thr) c.199G>A (p.Ala67Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116836087G>A | CA477048676 | APOA1 | c.525C>T (p.Arg175=) c.459C>T (p.Arg153=) c.198C>T (p.Arg66=) | |
11 | g.116836087G>C | CA477048677 | APOA1 | c.525C>G (p.Arg175=) c.459C>G (p.Arg153=) c.198C>G (p.Arg66=) | |
11 | g.116836087G>T | CA477048678 | APOA1 | c.525C>A (p.Arg175=) c.459C>A (p.Arg153=) c.198C>A (p.Arg66=) | |
11 | g.116836088C>A | CA382715338 | APOA1 | c.524G>T (p.Arg175Leu) c.458G>T (p.Arg153Leu) c.197G>T (p.Arg66Leu) | |
11 | g.116836088C>G | CA382715340 | APOA1 | c.524G>C (p.Arg175Pro) c.458G>C (p.Arg153Pro) c.197G>C (p.Arg66Pro) | |
11 | g.116836088C>T | CA382715342 | APOA1 | c.524G>A (p.Arg175His) c.458G>A (p.Arg153His) c.197G>A (p.Arg66His) | |
11 | g.116836089G>A | CA382715344 | APOA1 | c.523C>T (p.Arg175Cys) c.457C>T (p.Arg153Cys) c.196C>T (p.Arg66Cys) | ClinVar gnomAD v4 |
11 | g.116836089G>C | CA382715346 | APOA1 | c.523C>G (p.Arg175Gly) c.457C>G (p.Arg153Gly) c.196C>G (p.Arg66Gly) | ClinVar dbSNP gnomAD v4 |
11 | g.116836089G= | CA2002761891 | APOA1 | c.523C= (p.Arg175=) c.457C= (p.Arg153=) c.196C= (p.Arg66=) | |
11 | g.116836089G>T | CA382715347 | APOA1 | c.523C>A (p.Arg175Ser) c.457C>A (p.Arg153Ser) c.196C>A (p.Arg66Ser) | |
11 | g.116836090G>A | CA477048680 | APOA1 | c.522C>T (p.Asp174=) c.456C>T (p.Asp152=) c.195C>T (p.Asp65=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.116836090G>C | CA382715351 | APOA1 | c.522C>G (p.Asp174Glu) c.456C>G (p.Asp152Glu) c.195C>G (p.Asp65Glu) | |
11 | g.116836090G= | CA2002761892 | APOA1 | c.522C= (p.Asp174=) c.456C= (p.Asp152=) c.195C= (p.Asp65=) | |
11 | g.116836090G>T | CA382715349 | APOA1 | c.522C>A (p.Asp174Glu) c.456C>A (p.Asp152Glu) c.195C>A (p.Asp65Glu) | dbSNP |
11 | g.116836091T>A | CA382715353 | APOA1 | c.521A>T (p.Asp174Val) c.455A>T (p.Asp152Val) c.194A>T (p.Asp65Val) | |
11 | g.116836091T>C | CA382715354 | APOA1 | c.521A>G (p.Asp174Gly) c.455A>G (p.Asp152Gly) c.194A>G (p.Asp65Gly) | |
11 | g.116836091T>G | CA382715356 | APOA1 | c.521A>C (p.Asp174Ala) c.455A>C (p.Asp152Ala) c.194A>C (p.Asp65Ala) | |
11 | g.116836091_116836096del | CA2575000170 | APOA1 | c.516_521del (p.Met172_Asp174delinsIle) c.450_455del (p.Met150_Asp152delinsIle) c.189_194del (p.Met63_Asp65delinsIle) | |
11 | g.116836092C>A | CA382715358 | APOA1 | c.520G>T (p.Asp174Tyr) c.454G>T (p.Asp152Tyr) c.193G>T (p.Asp65Tyr) | |
11 | g.116836092C>G | CA382715359 | APOA1 | c.520G>C (p.Asp174His) c.454G>C (p.Asp152His) c.193G>C (p.Asp65His) | |
11 | g.116836092C>T | CA382715361 | APOA1 | c.520G>A (p.Asp174Asn) c.454G>A (p.Asp152Asn) c.193G>A (p.Asp65Asn) | ClinVar |
11 | g.116836093G>A | CA477048684 | APOA1 | c.519C>T (p.Arg173=) c.453C>T (p.Arg151=) c.192C>T (p.Arg64=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.116836093G>C | CA477048685 | APOA1 | c.519C>G (p.Arg173=) c.453C>G (p.Arg151=) c.192C>G (p.Arg64=) | gnomAD v4 |
11 | g.116836093G= | CA2002761893 | APOA1 | c.519C= (p.Arg173=) c.453C= (p.Arg151=) c.192C= (p.Arg64=) | |
11 | g.116836093G>T | CA477048683 | APOA1 | c.519C>A (p.Arg173=) c.453C>A (p.Arg151=) c.192C>A (p.Arg64=) | |
11 | g.116836094C>A | CA382715363 | APOA1 | c.518G>T (p.Arg173Leu) c.452G>T (p.Arg151Leu) c.191G>T (p.Arg64Leu) | gnomAD v4 |
11 | g.116836094C= | CA2002761894 | APOA1 | c.518G= (p.Arg173=) c.452G= (p.Arg151=) c.191G= (p.Arg64=) | |
11 | g.116836094C>G | CA127586 | APOA1 | c.518G>C (p.Arg173Pro) c.452G>C (p.Arg151Pro) c.191G>C (p.Arg64Pro) | ClinVar dbSNP |
11 | g.116836094C>T | CA382715366 | APOA1 | c.518G>A (p.Arg173His) c.452G>A (p.Arg151His) c.191G>A (p.Arg64His) | COSMIC |
11 | g.116836095G>A | CA382715367 | APOA1 | c.517C>T (p.Arg173Cys) c.451C>T (p.Arg151Cys) c.190C>T (p.Arg64Cys) | |
11 | g.116836095G>C | CA382715369 | APOA1 | c.517C>G (p.Arg173Gly) c.451C>G (p.Arg151Gly) c.190C>G (p.Arg64Gly) | |
11 | g.116836095G>T | CA382715370 | APOA1 | c.517C>A (p.Arg173Ser) c.451C>A (p.Arg151Ser) c.190C>A (p.Arg64Ser) | gnomAD v4 |
11 | g.116836096C>A | CA382715375 | APOA1 | c.516G>T (p.Met172Ile) c.450G>T (p.Met150Ile) c.189G>T (p.Met63Ile) | ClinVar |
11 | g.116836096C>G | CA382715374 | APOA1 | c.516G>C (p.Met172Ile) c.450G>C (p.Met150Ile) c.189G>C (p.Met63Ile) | gnomAD v4 |
11 | g.116836096C>T | CA382715372 | APOA1 | c.516G>A (p.Met172Ile) c.450G>A (p.Met150Ile) c.189G>A (p.Met63Ile) | gnomAD v4 |
11 | g.116836097A>C | CA382715377 | APOA1 | c.515T>G (p.Met172Arg) c.449T>G (p.Met150Arg) c.188T>G (p.Met63Arg) | |
11 | g.116836097A>G | CA382715379 | APOA1 | c.515T>C (p.Met172Thr) c.449T>C (p.Met150Thr) c.188T>C (p.Met63Thr) | |
11 | g.116836097A>T | CA382715380 | APOA1 | c.515T>A (p.Met172Lys) c.449T>A (p.Met150Lys) c.188T>A (p.Met63Lys) | |
11 | g.116836098T>A | CA382715383 | APOA1 | c.514A>T (p.Met172Leu) c.448A>T (p.Met150Leu) c.187A>T (p.Met63Leu) | |
11 | g.116836098T>C | CA382715386 | APOA1 | c.514A>G (p.Met172Val) c.448A>G (p.Met150Val) c.187A>G (p.Met63Val) | dbSNP |
11 | g.116836098T>G | CA382715388 | APOA1 | c.514A>C (p.Met172Leu) c.448A>C (p.Met150Leu) c.187A>C (p.Met63Leu) | gnomAD v4 |
11 | g.116836098T= | CA2002761895 | APOA1 | c.514A= (p.Met172=) c.448A= (p.Met150=) c.187A= (p.Met63=) | |
11 | g.116836099C>A | CA382715390 | APOA1 | c.513G>T (p.Glu171Asp) c.447G>T (p.Glu149Asp) c.186G>T (p.Glu62Asp) | |
11 | g.116836099C>G | CA382715394 | APOA1 | c.513G>C (p.Glu171Asp) c.447G>C (p.Glu149Asp) c.186G>C (p.Glu62Asp) | |
11 | g.116836099C>T | CA477048695 | APOA1 | c.513G>A (p.Glu171=) c.447G>A (p.Glu149=) c.186G>A (p.Glu62=) | |
11 | g.116836100T>A | CA229324196 | APOA1 | c.512A>T (p.Glu171Val) c.446A>T (p.Glu149Val) c.185A>T (p.Glu62Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116836100T>C | CA382715398 | APOA1 | c.512A>G (p.Glu171Gly) c.446A>G (p.Glu149Gly) c.185A>G (p.Glu62Gly) | |
11 | g.116836100T>G | CA382715401 | APOA1 | c.512A>C (p.Glu171Ala) c.446A>C (p.Glu149Ala) c.185A>C (p.Glu62Ala) | |
11 | g.116836100T= | CA2002761896 | APOA1 | c.512A= (p.Glu171=) c.446A= (p.Glu149=) c.185A= (p.Glu62=) | |
11 | g.116836101C>A | CA382715405 | APOA1 | c.511G>T (p.Glu171Ter) c.445G>T (p.Glu149Ter) c.184G>T (p.Glu62Ter) | |
11 | g.116836101C= | CA2002761897 | APOA1 | c.511G= (p.Glu171=) c.445G= (p.Glu149=) c.184G= (p.Glu62=) | |
11 | g.116836101C>G | CA382715406 | APOA1 | c.511G>C (p.Glu171Gln) c.445G>C (p.Glu149Gln) c.184G>C (p.Glu62Gln) | |
11 | g.116836101C>T | CA382715408 | APOA1 | c.511G>A (p.Glu171Lys) c.445G>A (p.Glu149Lys) c.184G>A (p.Glu62Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116836102C>A | CA382715415 | APOA1 | c.510G>T (p.Glu170Asp) c.444G>T (p.Glu148Asp) c.183G>T (p.Glu61Asp) | |
11 | g.116836102C= | CA2002761898 | APOA1 | c.510G= (p.Glu170=) c.444G= (p.Glu148=) c.183G= (p.Glu61=) | |
11 | g.116836102C>G | CA382715413 | APOA1 | c.510G>C (p.Glu170Asp) c.444G>C (p.Glu148Asp) c.183G>C (p.Glu61Asp) | |
11 | g.116836102C>T | CA477048697 | APOA1 | c.510G>A (p.Glu170=) c.444G>A (p.Glu148=) c.183G>A (p.Glu61=) | dbSNP |
11 | g.116836103T>A | CA382715420 | APOA1 | c.509A>T (p.Glu170Val) c.443A>T (p.Glu148Val) c.182A>T (p.Glu61Val) | |
11 | g.116836103T>C | CA382715422 | APOA1 | c.509A>G (p.Glu170Gly) c.443A>G (p.Glu148Gly) c.182A>G (p.Glu61Gly) | |
11 | g.116836103T>G | CA382715425 | APOA1 | c.509A>C (p.Glu170Ala) c.443A>C (p.Glu148Ala) c.182A>C (p.Glu61Ala) | |
11 | g.116836104C>A | CA382715427 | APOA1 | c.508G>T (p.Glu170Ter) c.442G>T (p.Glu148Ter) c.181G>T (p.Glu61Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.116836104C= | CA2002761899 | APOA1 | c.508G= (p.Glu170=) c.442G= (p.Glu148=) c.181G= (p.Glu61=) | |
11 | g.116836104C>G | CA382715429 | APOA1 | c.508G>C (p.Glu170Gln) c.442G>C (p.Glu148Gln) c.181G>C (p.Glu61Gln) | gnomAD v4 |
11 | g.116836104C>T | CA6289792 | APOA1 | c.508G>A (p.Glu170Lys) c.442G>A (p.Glu148Lys) c.181G>A (p.Glu61Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.116836105G>A | CA477048700 | APOA1 | c.507C>T (p.Gly169=) c.441C>T (p.Gly147=) c.180C>T (p.Gly60=) | |
11 | g.116836105G>C | CA229324211 | APOA1 | c.507C>G (p.Gly169=) c.441C>G (p.Gly147=) c.180C>G (p.Gly60=) | dbSNP |
11 | g.116836105G= | CA2002761900 | APOA1 | c.507C= (p.Gly169=) c.441C= (p.Gly147=) c.180C= (p.Gly60=) | |
11 | g.116836105G>T | CA6289793 | APOA1 | c.507C>A (p.Gly169=) c.441C>A (p.Gly147=) c.180C>A (p.Gly60=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116836106C>A | CA382715438 | APOA1 | c.506G>T (p.Gly169Val) c.440G>T (p.Gly147Val) c.179G>T (p.Gly60Val) | |
11 | g.116836106C>G | CA382715441 | APOA1 | c.506G>C (p.Gly169Ala) c.440G>C (p.Gly147Ala) c.179G>C (p.Gly60Ala) | |
11 | g.116836106C>T | CA382715444 | APOA1 | c.506G>A (p.Gly169Asp) c.440G>A (p.Gly147Asp) c.179G>A (p.Gly60Asp) | |
11 | g.116836107C>A | CA382715447 | APOA1 | c.505G>T (p.Gly169Cys) c.439G>T (p.Gly147Cys) c.178G>T (p.Gly60Cys) | |
11 | g.116836107C>G | CA382715449 | APOA1 | c.505G>C (p.Gly169Arg) c.439G>C (p.Gly147Arg) c.178G>C (p.Gly60Arg) | |
11 | g.116836107C>T | CA382715452 | APOA1 | c.505G>A (p.Gly169Ser) c.439G>A (p.Gly147Ser) c.178G>A (p.Gly60Ser) | gnomAD v4 |
11 | g.116836107_116836108delinsTT | CA645580555 | APOA1 | c.504_505delinsAA (p.Gly169Ser) c.438_439delinsAA (p.Gly147Ser) c.177_178delinsAA (p.Gly60Ser) | COSMIC |
11 | g.116836108C>A | CA477048702 | APOA1 | c.504G>T (p.Leu168=) c.438G>T (p.Leu146=) c.177G>T (p.Leu59=) | gnomAD v4 |
11 | g.116836108C>G | CA477048703 | APOA1 | c.504G>C (p.Leu168=) c.438G>C (p.Leu146=) c.177G>C (p.Leu59=) | |
11 | g.116836108C>T | CA477048704 | APOA1 | c.504G>A (p.Leu168=) c.438G>A (p.Leu146=) c.177G>A (p.Leu59=) | gnomAD v4 |
11 | g.116836109A= | CA2002761901 | APOA1 | c.503T= (p.Leu168=) c.437T= (p.Leu146=) c.176T= (p.Leu59=) | |
11 | g.116836109A>C | CA382715455 | APOA1 | c.503T>G (p.Leu168Arg) c.437T>G (p.Leu146Arg) c.176T>G (p.Leu59Arg) | COSMIC |
11 | g.116836109A>G | CA382715459 | APOA1 | c.503T>C (p.Leu168Pro) c.437T>C (p.Leu146Pro) c.176T>C (p.Leu59Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116836109A>T | CA382715456 | APOA1 | c.503T>A (p.Leu168Gln) c.437T>A (p.Leu146Gln) c.176T>A (p.Leu59Gln) | |
11 | g.116836110G>A | CA477048705 | APOA1 | c.502C>T (p.Leu168=) c.436C>T (p.Leu146=) c.175C>T (p.Leu59=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116836110G>C | CA6289794 | APOA1 | c.502C>G (p.Leu168Val) c.436C>G (p.Leu146Val) c.175C>G (p.Leu59Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.116836110G= | CA2002761902 | APOA1 | c.502C= (p.Leu168=) c.436C= (p.Leu146=) c.175C= (p.Leu59=) | |
11 | g.116836110G>T | CA382715464 | APOA1 | c.502C>A (p.Leu168Met) c.436C>A (p.Leu146Met) c.175C>A (p.Leu59Met) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.116836111T>A | CA477048706 | APOA1 | c.501A>T (p.Pro167=) c.435A>T (p.Pro145=) c.174A>T (p.Pro58=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.116836111T>C | CA477048707 | APOA1 | c.501A>G (p.Pro167=) c.435A>G (p.Pro145=) c.174A>G (p.Pro58=) | |
11 | g.116836111T>G | CA477048708 | APOA1 | c.501A>C (p.Pro167=) c.435A>C (p.Pro145=) c.174A>C (p.Pro58=) | gnomAD v4 |
11 | g.116836111T= | CA2002761903 | APOA1 | c.501A= (p.Pro167=) c.435A= (p.Pro145=) c.174A= (p.Pro58=) | |
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) |