Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.116830247_116836307delinsAGACAGAGGGCCTGAGGCAGGAGATGAGCAAGGATCTGGAGGAGGTGAAGGCCAAGGTGCAGCCCTACCTGGACGACTTCCAGAAGAAGTGGCAGGAGGAGATGGAGCTCTACCGCCAGAAGGTGGAGCCGCTGCGCGCAGAGCTCCAAGAGGGCGCGCGCCAGAAGCTGCACGAGCTGCAAGAGAAGCTGAGCCCACTGGGCGAGGAGATGCGCGACCGCGCGCGCGCCCATGTGGACGCGCTGCGCACGCATCTGGCCCCCTACAGCGACGAGCTGCGCCAGCGCTTGGCCGCGCGCCTTGAGGCTCTCAAGGAGAACGGCGGCGCCAGACTGGCCGAGTACCACGCCAAGGCCACCGAGCATCTGAGCACGCTCAGCGAGAAGGCCAAGCCCGCGCTCGAGGACCTCCGCCAAGGCCTGCTGCCCGTGCTGGAGAGCTTCAAGGTCAGCTTCCTGAGCGCTCTCGAGGAGTACACTAAGAAGCTCAACACCCAGTGAGGCGCCCGCCGCCGCCCCCCTTCCCGGTGCTCAGAATAAACGTTTCCAAAGTGGGAAGCAGCTTCTTTCTTTTGGGAGAATAGAGGGGGGTGCGGGGACATCCGGGGGAGCCCGGGTGGGGCCTTTGGCCCTGGAGCAGGGACTTCCTGCCGGATCTCAACAACTCCGTGCCCAGACTGGACGTCTTAGGGCCAAGATCGACGTTGGAGGACCTGCTGGACGCCTGGCTGCTTACGAGTGAGGGAGTAGAGTCTGCCTTAGCAAGGCTCAAGTAGAAAGGAAGTCACAGCGGACCAGGCAAAGCCACAGACAATCCAAGGCCAGGTGCCCTGAAAGGGGCTCAAACAAGGCCTGCAGCCCTGTCTGAGGCGGGCCAGGAAACAGGGTTGCTTTAGCTGGGAGCAGTGGGTTCCCCGTCCCCAGAGGTGTGTCCGTATAGAGCCTTCTCCAGCCCAGCCGCTGTCAGCGGGGCGGGACGGAGCGGGGCGGCCTCAGGGAGCCAGCCACTGGGATTGGGGTTTGGTCCCGGGTGCAAGTGAAGCGCTTGGAGTTTGCGCCTGTCCTCCTTTACTAATTCAAAAACCTCTCAAACAGACACTTCCCTTTTCTTCTCACAAGGCCAGTATCCCCCTCCCACTACTCCCATCCCGCCCAGAAACAGCCGCGGCTTCCTCAGGCACAGCAGTGGAAGCCAGTCCTCCACCCCCTGCGGCTCCATGCCATGCCACCCCCTCTTTCTGCCAGCCCTGGCAGAAGCTGGCCTGAGTAAGAAAATTCACCACCACCTCTTGCAGGTACATTTTTATTTCCAAGATGCTCTCATATCTGTGCTCTCACTGCATCCTCCCTTCCCCACATCCTGGCTAGATTGCCATCAGACGCAGAGCATGGATGAGGACACTGAAGCCTGGACCTGTGACGTCGCTTGCCCAGTGAACAGCAGGATGGGCTAGGCCGCGCTTTTTAGACCCTGCACCCCTGGCCATCCATGATTATTGAAAAGAGTGCGCGGGTCGGGTGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGTATCACTTCAGGCCAGGAGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATCAGCTGGGCATGGTGGCTTGCACCCGTAATCCCAGCTACTAGGAAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTCACAGTGAGCCGAAATCATGCCACTGCACTCCAGCCTGGGCGACGGAGCAAGACTCCAGCTAAAAAAAAAAAAAAAAAAAAAAGAGTGTGTGGCCTGGCACTCAAGTTCACATGGGTGTGCAGGCATGCCTGTGTATTCTCACATGACCTCCCTGCTCACGGTCCCTCCTTGCACTCATGTCTGAATGTCCCCGCGTGCACGCACATGGCTTCACAGATCTGGGCAGTGCCTTCCCTACCCTCTCTCTGCAGGGCCTTTTGCCCCCTCATGCAGGCCCCTGGATAATCGGCCCCATCCCCATGTCCCCATCTCCAGTGTATCTTAGCTACCCTAGGTAAAGGAGTGGGCTTTTTAGTTCCTAACCTTCCAGAGCTACAACAGCAGTCATCCAGCCAGGTCTGGGTGGGAACATTTTCTAGATACGGGTGCTGAGATCTCTCAGCCCAGAGAGAAGCCCTGGGGAATTTTCAGAGAGAAAGCAGTCTCCAGGTGGGGCTGGATGTACTGATGCCACTGAGATCTGTAAAGGAGTCCCTAACACCTGACATAGGAGTGACAAAACTGTTTTCTGCACCAACTGAGCAGAATACACGCAGCTGACCTGGGCTCAAGGTCTGGCCCTGCCACGTGCTGGCTCTGTGATGCTGGCCAAGTGCCTTCGCCTCTCCGGGCCACAGTTTTTTGATCTGAAGAGTGGAGCCCTACTCAAGCCATCTGCAGCTCTCGGGCTCTCTGACCTGACATCTTTCGGGTGGTGGGGACACAAAGGAAGCAGCCTCTATTGGGAGACCTTGTGCTTCTTTTTGGTCCCAGGACACTGCCCCCCACCACTCCAGTCCGGGTCCCAAGGGCCCAGTCAGCTCAACTGTAATCATGACAACATTGATCAAGCATCTTTACGTGCAGGTGCTGTGCCAAACGGTTCGAACGCTCTCTCATTTCAATCTCACGGCAAACCTACGGTGGAGGGGGTACGGTTGTATCCACTTTACATGTAAGAAACTGAGGCTGATATCAAGTGGTGGAGCCAAGAATAGTGCCTCGTTGCATCTTACTCCAACCTCTAGCCCATCCGGCCTCCTCCCTTCACGTGCGCCTAAGAGGGCTAGGGGGCCTGGATAGGGGAGGTCAGCTCCACAGTTTTGAGTAAACACACACAGTCTCAACTCTGATGACAACTTAAGTGCCAGGCATAGTGGCTGGCATGGGGCACACACTCAAGTCATGTTGTGCAGCACCTAACAGTTTATCAAAGTATCAGCAAACTTATTGTCCTGTTTGACCTTCCGCACAAAGCTGTCAAGGAAGGCAGGGTACGGAGGGTGATTCCTACCTTAGAGATGAAGAAACTGAGGCCCAGAGACTGCCCAGCTACCAGAAGGTGGATAGAGCGCTGGCCTCCATGCCTGCCTGACCTGGAGTCTGTCCAGTGCCCACCCACAGAACAGCCTCGGCCCTTTCCCATGCCCAGACACAGATGGCACACTTGCGACGGCCCACTCATAGCAGCTTCTTGTCCAGCTTTATTGGGAGGCCAGCATGCCTGGAGGGGGGCCAGGCATGAGGTGGGGTAGGAGAGCACTGAGAATACTGTCCCTTTTAAGCAACCTACAGGGGCAGCCCTGGAGATTGCAGGACCCAAGGAGCTCGCAGGATGGATAGGCAGGTGGACTTGGGGTATTGAGGTCTCAGGCAGCCACGGCTGAAGTTGGTCTGACCTCAGGGTCCAAATCCCAGAACTCAGAGAACTTGTCCTTAACGGTGCTCCAGTAGTCTTTCAGGGAACTGAAGCCATCGGTCACCCAGCCCCTAAATCAGTCAGGGGAAGCAACAGAGCAGGGCATGAGAACTCCTCTGTAGGCAACCATGGGACCCACACCCATGTCCCCACTGGACGACACCAGTCAGGACCACACCACCCTCTCAACTTCACTGGACGACAGCCCTGAGACCTCAGGCAGGAATCCCCCACAGCTGCCACCCTGGGAGAAGAGATATCCTTGCAGGAACCCCAGCACAAGTCAAACCCTGCCATCTCCAGGTCACCTCAGATGTTTATGCCCCTGGGCCTGAGGCACAAAGTGACAGGGTGGGGAGATGTGAAAGGTCAAGGCTGTCATTGTTTTCTGTGCAAACAGCACCGCCTGGAGTTGCACAACCTGGTGGCTCTGAGCAGGGTAGGACAGAGGGAGGCAGCCTCTCATTTGGAAAGTCATTGGAGGATTGATTAGTTGTGTGATCTGGGGCAGGTCACCTAATCGCTCTGAGCCTCAATTTTCTCATCTGCAAAGTGAGAAAATAACACCTACCCCAAAGCCGGTTCTGGGGACTAAGAATGTTTATGAACACCTCTGCTATGCCAGCTAATGCCAGTCAGGGTGAGGTGGAGAAGGGAGTAGGGGAGAGGAGAGTACTGATGGGCAGGGGCAGGATGGGAGAGGAAGGACACACTTCTGCTCACACTGGCCCCAGGTCTTAGAACAAAGCAGAAGCACTCACGGGCTTGAATTGGGTCAGGTGGGGCCTCCCAAGGCAAACCCCTAGCCCAGGGGTCCCCAACCCCCAAGTCATAGATAGGTACTGGTCCATGGACTGTTAGGAGCCGGGCTGCACAGCACGAAGTGAGTGGTGGGTGAGTGAGCAATACCGCCTGAGCTCCGCCTCCTGTCAGATCAAGTGGCCTTACATTCTCATAGGAGTGTGAACCCTATTGTGAACTGCACATGCCAGGGATCTAGGTGGAGGGCTCCTTATGAGAATCTAATGCCTGATGATCTGAGGTGGAACAGCTTCATCCCAAAACCATCCCCGCTGGCCCATGGAAAAATTGTCCACCACAAAACTGGTCCCTGGTGCCAAAAAGGCTGAGGACCACTGCTCTAGCCAGACCTTCAGAAAAGGAAAATGGGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCCCCTGAGGTCAGGAATTCAAGACCAACCTGGCCAACATGGTGAAACCCCATCTCTGCTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGGTTGAACCCGGGAGACGGAGGTTGCAGTGAGCCGAGATGGCACCACTGCACTCCAGCCTAGGTGACAGAGGGAGACTCCATTAAAAAAAAAAGAAGAAGAAAGAAAGAGAGAAAGGAAGAGAGGGAAAGAAAGAAAAAGGAAAGAAAGAAAGAAAGAGAAAGAAAGGAAAGAAAGAAAGAAAGGAAAGAAAGAAAGGAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAATAGAAAGAGAAAGAAAGGGAAAGGAAAGGAAAATGGAAATGAGGGCTAAAACGGCACGCCCTAGGACTGCTCCGGGGAGAAAGGAGGGACCTGGGAGGAATGCAGTCTCAACTCTGTCATCTCTCCCGCAGCAGCCTGACAAAGGCCCTGTGAGGAAAGAGGAGGCTGAAGAGGCACAGGCCCAGGGGAGGCTGGAGCACCTCCATTCCATTGTTGGGATCTCACCAGGGCAGGGGCGGGTGGGAATGGAGGCAGCTGGCAGGGGGGATGGGGAGGGAGGCCAGCGGGTGTACCTGGCCTGCTGGGCCACCTGGGACTCCTGCACGCTGCTCAGTGCATCCTTGGCGGTCTTGGTGGCGTGCTTCATGTAACCCTGCATGAAGCTGAGAAGGGAGGCATCCTCGGCCTCTGAAGCTCCTGAGGAAAGAGCAGGGCTGAGTGGGGTGGATCGGCCTCTGGACGAGCCCTGGGCTCCTGCTTGACCACCCATTGGGACTGGGATCCCCAAGTTGCCTCCACCCTGCCCCCAGCCCAGTCCCACCAAGTGCTTACGGGCAGAGGCCAGGAGCGCCAGGAGGGCAACAACAAGGAGTACCCGGGGCTGCATGGCACCTCTGTTCCTGCAAGGAAGTGTCCTGTGAGGGGCACCCCAGGTCCCCATGCCTCTGGACCCCTCCCTGGGGAGGTGGCGTGGCCCCTAAGGTAGAACCTTAGCTGGGTCTGCCAGAAGGAGTAGGGGCCGGCTCCCTGCTAATACGGGCTCTCAGAAGGGGGACTGGTGAGGGGCGAGGGATCGAGGCCCAAAGGGAGGTGGGTGGGATGGAGCAGAAAACCCACCAGACTGAACATCAAGGCACCTGCGGTCTGGACTGATCTCCGTCCAGTCCAGCCAACATGCTGTGTGTCTTTGGGTGATTTCTGGCCCTCTCCAGGCCTCAGTTTC | CA2697558960 | ClinVar | ||
11 | g.116835827T>A | CA382713708 | APOA1 | c.785A>T (p.Lys262Met) c.719A>T (p.Lys240Met) c.458A>T (p.Lys153Met) | |
11 | g.116835827T>C | CA382713710 | APOA1 | c.785A>G (p.Lys262Arg) c.719A>G (p.Lys240Arg) c.458A>G (p.Lys153Arg) | |
11 | g.116835827T>G | CA382713712 | APOA1 | c.785A>C (p.Lys262Thr) c.719A>C (p.Lys240Thr) c.458A>C (p.Lys153Thr) | |
11 | g.116835828T>A | CA382713720 | APOA1 | c.784A>T (p.Lys262Ter) c.718A>T (p.Lys240Ter) c.457A>T (p.Lys153Ter) | |
11 | g.116835828T>C | CA382713723 | APOA1 | c.784A>G (p.Lys262Glu) c.718A>G (p.Lys240Glu) c.457A>G (p.Lys153Glu) | |
11 | g.116835828T>G | CA382713725 | APOA1 | c.784A>C (p.Lys262Gln) c.718A>C (p.Lys240Gln) c.457A>C (p.Lys153Gln) | |
11 | g.116835829A>C | CA477048515 | APOA1 | c.783T>G (p.Thr261=) c.717T>G (p.Thr239=) c.456T>G (p.Thr152=) | gnomAD v4 |
11 | g.116835829A>G | CA477048514 | APOA1 | c.783T>C (p.Thr261=) c.717T>C (p.Thr239=) c.456T>C (p.Thr152=) | |
11 | g.116835829A>T | CA477048513 | APOA1 | c.783T>A (p.Thr261=) c.717T>A (p.Thr239=) c.456T>A (p.Thr152=) | |
11 | g.116835830G>A | CA382713727 | APOA1 | c.782C>T (p.Thr261Ile) c.716C>T (p.Thr239Ile) c.455C>T (p.Thr152Ile) | |
11 | g.116835830G>C | CA382713730 | APOA1 | c.782C>G (p.Thr261Ser) c.716C>G (p.Thr239Ser) c.455C>G (p.Thr152Ser) | |
11 | g.116835830G>T | CA382713729 | APOA1 | c.782C>A (p.Thr261Asn) c.716C>A (p.Thr239Asn) c.455C>A (p.Thr152Asn) | |
11 | g.116835831T>A | CA382713731 | APOA1 | c.781A>T (p.Thr261Ser) c.715A>T (p.Thr239Ser) c.454A>T (p.Thr152Ser) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.116835831T>C | CA229323813 | APOA1 | c.781A>G (p.Thr261Ala) c.715A>G (p.Thr239Ala) c.454A>G (p.Thr152Ala) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.116835831T>G | CA382713732 | APOA1 | c.781A>C (p.Thr261Pro) c.715A>C (p.Thr239Pro) c.454A>C (p.Thr152Pro) | |
11 | g.116835831T= | CA2002761750 | APOA1 | c.781A= (p.Thr261=) c.715A= (p.Thr239=) c.454A= (p.Thr152=) | |
11 | g.116835832G>A | CA477048516 | APOA1 | c.780C>T (p.Tyr260=) c.714C>T (p.Tyr238=) c.453C>T (p.Tyr151=) | |
11 | g.116835832G>C | CA382713733 | APOA1 | c.780C>G (p.Tyr260Ter) c.714C>G (p.Tyr238Ter) c.453C>G (p.Tyr151Ter) | |
11 | g.116835832G>T | CA382713734 | APOA1 | c.780C>A (p.Tyr260Ter) c.714C>A (p.Tyr238Ter) c.453C>A (p.Tyr151Ter) | |
11 | g.116835833T>A | CA382713738 | APOA1 | c.779A>T (p.Tyr260Phe) c.713A>T (p.Tyr238Phe) c.452A>T (p.Tyr151Phe) | |
11 | g.116835833T>C | CA382713740 | APOA1 | c.779A>G (p.Tyr260Cys) c.713A>G (p.Tyr238Cys) c.452A>G (p.Tyr151Cys) | ClinVar gnomAD v4 COSMIC |
11 | g.116835833T>G | CA382713742 | APOA1 | c.779A>C (p.Tyr260Ser) c.713A>C (p.Tyr238Ser) c.452A>C (p.Tyr151Ser) | |
11 | g.116835834A= | CA2002761752 | APOA1 | c.778T= (p.Tyr260=) c.712T= (p.Tyr238=) c.451T= (p.Tyr151=) | |
11 | g.116835834A>C | CA382713748 | APOA1 | c.778T>G (p.Tyr260Asp) c.712T>G (p.Tyr238Asp) c.451T>G (p.Tyr151Asp) | |
11 | g.116835834A>G | CA382713750 | APOA1 | c.778T>C (p.Tyr260His) c.712T>C (p.Tyr238His) c.451T>C (p.Tyr151His) | dbSNP |
11 | g.116835834A>T | CA382713752 | APOA1 | c.778T>A (p.Tyr260Asn) c.712T>A (p.Tyr238Asn) c.451T>A (p.Tyr151Asn) | |
11 | g.116835834_116835837delinsACTC | CA2002761751 | APOA1 | c.775_778delinsGAGT (p.Glu259=) c.709_712delinsGAGT (p.Glu237=) c.448_451delinsGAGT (p.Glu150=) | |
11 | g.116835835C>A | CA382713755 | APOA1 | c.777G>T (p.Glu259Asp) c.711G>T (p.Glu237Asp) c.450G>T (p.Glu150Asp) | |
11 | g.116835835C= | CA2002761753 | APOA1 | c.777G= (p.Glu259=) c.711G= (p.Glu237=) c.450G= (p.Glu150=) | |
11 | g.116835835C>G | CA382713756 | APOA1 | c.777G>C (p.Glu259Asp) c.711G>C (p.Glu237Asp) c.450G>C (p.Glu150Asp) | |
11 | g.116835835C>T | CA477048517 | APOA1 | c.777G>A (p.Glu259=) c.711G>A (p.Glu237=) c.450G>A (p.Glu150=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116835838_116835840del | CA602136484 | APOA1 | c.775_777del (p.Glu259del) c.709_711del (p.Glu237del) c.448_450del (p.Glu150del) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.116835836T>A | CA382713758 | APOA1 | c.776A>T (p.Glu259Val) c.710A>T (p.Glu237Val) c.449A>T (p.Glu150Val) | |
11 | g.116835836T>C | CA382713759 | APOA1 | c.776A>G (p.Glu259Gly) c.710A>G (p.Glu237Gly) c.449A>G (p.Glu150Gly) | |
11 | g.116835836T>G | CA382713760 | APOA1 | c.776A>C (p.Glu259Ala) c.710A>C (p.Glu237Ala) c.449A>C (p.Glu150Ala) | |
11 | g.116835837C>A | CA382713762 | APOA1 | c.775G>T (p.Glu259Ter) c.709G>T (p.Glu237Ter) c.448G>T (p.Glu150Ter) | dbSNP |
11 | g.116835837C= | CA2002761754 | APOA1 | c.775G= (p.Glu259=) c.709G= (p.Glu237=) c.448G= (p.Glu150=) | |
11 | g.116835837C>G | CA382713763 | APOA1 | c.775G>C (p.Glu259Gln) c.709G>C (p.Glu237Gln) c.448G>C (p.Glu150Gln) | |
11 | g.116835837C>T | CA382713767 | APOA1 | c.775G>A (p.Glu259Lys) c.709G>A (p.Glu237Lys) c.448G>A (p.Glu150Lys) | |
11 | g.116835838C>A | CA382713770 | APOA1 | c.774G>T (p.Glu258Asp) c.708G>T (p.Glu236Asp) c.447G>T (p.Glu149Asp) | |
11 | g.116835838C= | CA2002761755 | APOA1 | c.774G= (p.Glu258=) c.708G= (p.Glu236=) c.447G= (p.Glu149=) | |
11 | g.116835838C>G | CA382713769 | APOA1 | c.774G>C (p.Glu258Asp) c.708G>C (p.Glu236Asp) c.447G>C (p.Glu149Asp) | |
11 | g.116835838C>T | CA477048518 | APOA1 | c.774G>A (p.Glu258=) c.708G>A (p.Glu236=) c.447G>A (p.Glu149=) | dbSNP |
11 | g.116835839T>A | CA382713773 | APOA1 | c.773A>T (p.Glu258Val) c.707A>T (p.Glu236Val) c.446A>T (p.Glu149Val) | dbSNP |
11 | g.116835839T>C | CA382713775 | APOA1 | c.773A>G (p.Glu258Gly) c.707A>G (p.Glu236Gly) c.446A>G (p.Glu149Gly) | gnomAD v4 |
11 | g.116835839T>G | CA382713776 | APOA1 | c.773A>C (p.Glu258Ala) c.707A>C (p.Glu236Ala) c.446A>C (p.Glu149Ala) | gnomAD v3 gnomAD v4 |
11 | g.116835840C>A | CA382713779 | APOA1 | c.772G>T (p.Glu258Ter) c.706G>T (p.Glu236Ter) c.445G>T (p.Glu149Ter) | |
11 | g.116835840C>G | CA382713781 | APOA1 | c.772G>C (p.Glu258Gln) c.706G>C (p.Glu236Gln) c.445G>C (p.Glu149Gln) | ClinVar COSMIC |
11 | g.116835840C>T | CA382713785 | APOA1 | c.772G>A (p.Glu258Lys) c.706G>A (p.Glu236Lys) c.445G>A (p.Glu149Lys) | |
11 | g.116835841G>A | CA477048519 | APOA1 | c.771C>T (p.Leu257=) c.705C>T (p.Leu235=) c.444C>T (p.Leu148=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116835841G>C | CA477048520 | APOA1 | c.771C>G (p.Leu257=) c.705C>G (p.Leu235=) c.444C>G (p.Leu148=) | ClinVar dbSNP gnomAD v4 |
11 | g.116835841G= | CA2002761756 | APOA1 | c.771C= (p.Leu257=) c.705C= (p.Leu235=) c.444C= (p.Leu148=) | |
11 | g.116835841G>T | CA477048521 | APOA1 | c.771C>A (p.Leu257=) c.705C>A (p.Leu235=) c.444C>A (p.Leu148=) | |
11 | g.116835842A= | CA2002761757 | APOA1 | c.770T= (p.Leu257=) c.704T= (p.Leu235=) c.443T= (p.Leu148=) | |
11 | g.116835842A>C | CA382713787 | APOA1 | c.770T>G (p.Leu257Arg) c.704T>G (p.Leu235Arg) c.443T>G (p.Leu148Arg) | |
11 | g.116835842A>G | CA382713803 | APOA1 | c.770T>C (p.Leu257Pro) c.704T>C (p.Leu235Pro) c.443T>C (p.Leu148Pro) | dbSNP gnomAD v4 |
11 | g.116835842A>T | CA382713789 | APOA1 | c.770T>A (p.Leu257His) c.704T>A (p.Leu235His) c.443T>A (p.Leu148His) | |
11 | g.116835843G>A | CA382713805 | APOA1 | c.769C>T (p.Leu257Phe) c.703C>T (p.Leu235Phe) c.442C>T (p.Leu148Phe) | ClinVar gnomAD v4 |
11 | g.116835843G>C | CA382713806 | APOA1 | c.769C>G (p.Leu257Val) c.703C>G (p.Leu235Val) c.442C>G (p.Leu148Val) | gnomAD v4 |
11 | g.116835843G>T | CA382713807 | APOA1 | c.769C>A (p.Leu257Ile) c.703C>A (p.Leu235Ile) c.442C>A (p.Leu148Ile) | |
11 | g.116835844A>C | CA477048522 | APOA1 | c.768T>G (p.Ala256=) c.702T>G (p.Ala234=) c.441T>G (p.Ala147=) | |
11 | g.116835844A>G | CA477048523 | APOA1 | c.768T>C (p.Ala256=) c.702T>C (p.Ala234=) c.441T>C (p.Ala147=) | |
11 | g.116835844A>T | CA477048524 | APOA1 | c.768T>A (p.Ala256=) c.702T>A (p.Ala234=) c.441T>A (p.Ala147=) | |
11 | g.116835845G>A | CA382713809 | APOA1 | c.767C>T (p.Ala256Val) c.701C>T (p.Ala234Val) c.440C>T (p.Ala147Val) | |
11 | g.116835845G>C | CA382713815 | APOA1 | c.767C>G (p.Ala256Gly) c.701C>G (p.Ala234Gly) c.440C>G (p.Ala147Gly) | |
11 | g.116835845G>T | CA382713818 | APOA1 | c.767C>A (p.Ala256Asp) c.701C>A (p.Ala234Asp) c.440C>A (p.Ala147Asp) | |
11 | g.116835846C>A | CA382713824 | APOA1 | c.766G>T (p.Ala256Ser) c.700G>T (p.Ala234Ser) c.439G>T (p.Ala147Ser) | COSMIC |
11 | g.116835846C= | CA2002761758 | APOA1 | c.766G= (p.Ala256=) c.700G= (p.Ala234=) c.439G= (p.Ala147=) | |
11 | g.116835846C>G | CA382713835 | APOA1 | c.766G>C (p.Ala256Pro) c.700G>C (p.Ala234Pro) c.439G>C (p.Ala147Pro) | gnomAD v4 |
11 | g.116835846C>T | CA6289744 | APOA1 | c.766G>A (p.Ala256Thr) c.700G>A (p.Ala234Thr) c.439G>A (p.Ala147Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116835847G>A | CA477048525 | APOA1 | c.765C>T (p.Ser255=) c.699C>T (p.Ser233=) c.438C>T (p.Ser146=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.116835847G>C | CA382713836 | APOA1 | c.765C>G (p.Ser255Arg) c.699C>G (p.Ser233Arg) c.438C>G (p.Ser146Arg) | |
11 | g.116835847G= | CA2002761759 | APOA1 | c.765C= (p.Ser255=) c.699C= (p.Ser233=) c.438C= (p.Ser146=) | |
11 | g.116835847G>T | CA382713839 | APOA1 | c.765C>A (p.Ser255Arg) c.699C>A (p.Ser233Arg) c.438C>A (p.Ser146Arg) | |
11 | g.116835848C>A | CA382713848 | APOA1 | c.764G>T (p.Ser255Ile) c.698G>T (p.Ser233Ile) c.437G>T (p.Ser146Ile) | |
11 | g.116835848C>G | CA382713852 | APOA1 | c.764G>C (p.Ser255Thr) c.698G>C (p.Ser233Thr) c.437G>C (p.Ser146Thr) | |
11 | g.116835848C>T | CA382713850 | APOA1 | c.764G>A (p.Ser255Asn) c.698G>A (p.Ser233Asn) c.437G>A (p.Ser146Asn) | |
11 | g.116835849T>A | CA382713853 | APOA1 | c.763A>T (p.Ser255Cys) c.697A>T (p.Ser233Cys) c.436A>T (p.Ser146Cys) | |
11 | g.116835849T>C | CA382713855 | APOA1 | c.763A>G (p.Ser255Gly) c.697A>G (p.Ser233Gly) c.436A>G (p.Ser146Gly) | |
11 | g.116835849T>G | CA229323815 | APOA1 | c.763A>C (p.Ser255Arg) c.697A>C (p.Ser233Arg) c.436A>C (p.Ser146Arg) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.116835849T= | CA2002761760 | APOA1 | c.763A= (p.Ser255=) c.697A= (p.Ser233=) c.436A= (p.Ser146=) | |
11 | g.116835850C>A | CA477048526 | APOA1 | c.762G>T (p.Leu254=) c.696G>T (p.Leu232=) c.435G>T (p.Leu145=) | |
11 | g.116835850C>G | CA477048528 | APOA1 | c.762G>C (p.Leu254=) c.696G>C (p.Leu232=) c.435G>C (p.Leu145=) | gnomAD v4 |
11 | g.116835850C>T | CA477048527 | APOA1 | c.762G>A (p.Leu254=) c.696G>A (p.Leu232=) c.435G>A (p.Leu145=) | |
11 | g.116835851A= | CA2002761761 | APOA1 | c.761T= (p.Leu254=) c.695T= (p.Leu232=) c.434T= (p.Leu145=) | |
11 | g.116835851A>C | CA6289745 | APOA1 | c.761T>G (p.Leu254Arg) c.695T>G (p.Leu232Arg) c.434T>G (p.Leu145Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.116835851A>G | CA382713864 | APOA1 | c.761T>C (p.Leu254Pro) c.695T>C (p.Leu232Pro) c.434T>C (p.Leu145Pro) | |
11 | g.116835851A>T | CA382713860 | APOA1 | c.761T>A (p.Leu254Gln) c.695T>A (p.Leu232Gln) c.434T>A (p.Leu145Gln) | |
11 | g.116835852G>A | CA477048529 | APOA1 | c.760C>T (p.Leu254=) c.694C>T (p.Leu232=) c.433C>T (p.Leu145=) | ClinVar gnomAD v4 |
11 | g.116835852G>C | CA382713866 | APOA1 | c.760C>G (p.Leu254Val) c.694C>G (p.Leu232Val) c.433C>G (p.Leu145Val) | |
11 | g.116835852G>T | CA382713868 | APOA1 | c.760C>A (p.Leu254Met) c.694C>A (p.Leu232Met) c.433C>A (p.Leu145Met) | |
11 | g.116835853G>A | CA477048530 | APOA1 | c.759C>T (p.Phe253=) c.693C>T (p.Phe231=) c.432C>T (p.Phe144=) | gnomAD v4 |
11 | g.116835853G>C | CA382713882 | APOA1 | c.759C>G (p.Phe253Leu) c.693C>G (p.Phe231Leu) c.432C>G (p.Phe144Leu) | |
11 | g.116835853G>T | CA382713885 | APOA1 | c.759C>A (p.Phe253Leu) c.693C>A (p.Phe231Leu) c.432C>A (p.Phe144Leu) | |
11 | g.116835854A>C | CA382713888 | APOA1 | c.758T>G (p.Phe253Cys) c.692T>G (p.Phe231Cys) c.431T>G (p.Phe144Cys) | |
11 | g.116835854A>G | CA382713891 | APOA1 | c.758T>C (p.Phe253Ser) c.692T>C (p.Phe231Ser) c.431T>C (p.Phe144Ser) | |
11 | g.116835854A>T | CA382713900 | APOA1 | c.758T>A (p.Phe253Tyr) c.692T>A (p.Phe231Tyr) c.431T>A (p.Phe144Tyr) | |
11 | g.116835854_116835892delinsAAGCTGACCTTGAAGCTCTCCAGCACGGGCAGCAGGCCT | CA2002761762 | APOA1 | c.720_758delinsAGGCCTGCTGCCCGTGCTGGAGAGCTTCAAGGTCAGCTT (p.Gln240=) c.654_692delinsAGGCCTGCTGCCCGTGCTGGAGAGCTTCAAGGTCAGCTT (p.Gln218=) c.393_431delinsAGGCCTGCTGCCCGTGCTGGAGAGCTTCAAGGTCAGCTT (p.Gln131=) | |
11 | g.116835855A= | CA2002761763 | APOA1 | c.757T= (p.Phe253=) c.691T= (p.Phe231=) c.430T= (p.Phe144=) | |
11 | g.116835855A>C | CA382713901 | APOA1 | c.757T>G (p.Phe253Val) c.691T>G (p.Phe231Val) c.430T>G (p.Phe144Val) | |
11 | g.116835855A>G | CA382713902 | APOA1 | c.757T>C (p.Phe253Leu) c.691T>C (p.Phe231Leu) c.430T>C (p.Phe144Leu) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.116835855A>T | CA382713904 | APOA1 | c.757T>A (p.Phe253Ile) c.691T>A (p.Phe231Ile) c.430T>A (p.Phe144Ile) | gnomAD v4 |
11 | g.116835855_116835892del | CA918975668 | APOA1 | c.720_757del (p.Gln240HisfsTer10) c.654_691del (p.Gln218HisfsTer10) c.393_430del (p.Gln131HisfsTer10) | dbSNP gnomAD v4 |
11 | g.116835856G>A | CA477048531 | APOA1 | c.756C>T (p.Ser252=) c.690C>T (p.Ser230=) c.429C>T (p.Ser143=) | |
11 | g.116835856G>C | CA382713907 | APOA1 | c.756C>G (p.Ser252Arg) c.690C>G (p.Ser230Arg) c.429C>G (p.Ser143Arg) | |
11 | g.116835856G>T | CA382713908 | APOA1 | c.756C>A (p.Ser252Arg) c.690C>A (p.Ser230Arg) c.429C>A (p.Ser143Arg) | |
11 | g.116835857C>A | CA382713911 | APOA1 | c.755G>T (p.Ser252Ile) c.689G>T (p.Ser230Ile) c.428G>T (p.Ser143Ile) | |
11 | g.116835857C>G | CA382713916 | APOA1 | c.755G>C (p.Ser252Thr) c.689G>C (p.Ser230Thr) c.428G>C (p.Ser143Thr) | |
11 | g.116835857C>T | CA382713914 | APOA1 | c.755G>A (p.Ser252Asn) c.689G>A (p.Ser230Asn) c.428G>A (p.Ser143Asn) | |
11 | g.116835858T>A | CA382713919 | APOA1 | c.754A>T (p.Ser252Cys) c.688A>T (p.Ser230Cys) c.427A>T (p.Ser143Cys) | |
11 | g.116835858T>C | CA382713921 | APOA1 | c.754A>G (p.Ser252Gly) c.688A>G (p.Ser230Gly) c.427A>G (p.Ser143Gly) | |
11 | g.116835858T>G | CA382713924 | APOA1 | c.754A>C (p.Ser252Arg) c.688A>C (p.Ser230Arg) c.427A>C (p.Ser143Arg) | |
11 | g.116835859G>A | CA477048532 | APOA1 | c.753C>T (p.Val251=) c.687C>T (p.Val229=) c.426C>T (p.Val142=) | |
11 | g.116835859G>C | CA477048533 | APOA1 | c.753C>G (p.Val251=) c.687C>G (p.Val229=) c.426C>G (p.Val142=) | |
11 | g.116835859G>T | CA477048534 | APOA1 | c.753C>A (p.Val251=) c.687C>A (p.Val229=) c.426C>A (p.Val142=) | |
11 | g.116835860A= | CA2002761764 | APOA1 | c.752T= (p.Val251=) c.686T= (p.Val229=) c.425T= (p.Val142=) | |
11 | g.116835860A>C | CA382713931 | APOA1 | c.752T>G (p.Val251Gly) c.686T>G (p.Val229Gly) c.425T>G (p.Val142Gly) | |
11 | g.116835860A>G | CA382713933 | APOA1 | c.752T>C (p.Val251Ala) c.686T>C (p.Val229Ala) c.425T>C (p.Val142Ala) | |
11 | g.116835860A>T | CA6289746 | APOA1 | c.752T>A (p.Val251Asp) c.686T>A (p.Val229Asp) c.425T>A (p.Val142Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.116835861C>A | CA382713934 | APOA1 | c.751G>T (p.Val251Phe) c.685G>T (p.Val229Phe) c.424G>T (p.Val142Phe) | gnomAD v4 |
11 | g.116835861C= | CA2002761765 | APOA1 | c.751G= (p.Val251=) c.685G= (p.Val229=) c.424G= (p.Val142=) | |
11 | g.116835861C>G | CA382713935 | APOA1 | c.751G>C (p.Val251Leu) c.685G>C (p.Val229Leu) c.424G>C (p.Val142Leu) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.116835861C>T | CA382713939 | APOA1 | c.751G>A (p.Val251Ile) c.685G>A (p.Val229Ile) c.424G>A (p.Val142Ile) | |
11 | g.116835862C>A | CA382713948 | APOA1 | c.750G>T (p.Lys250Asn) c.684G>T (p.Lys228Asn) c.423G>T (p.Lys141Asn) | COSMIC |
11 | g.116835862C>G | CA382713945 | APOA1 | c.750G>C (p.Lys250Asn) c.684G>C (p.Lys228Asn) c.423G>C (p.Lys141Asn) | |
11 | g.116835862C>T | CA477048535 | APOA1 | c.750G>A (p.Lys250=) c.684G>A (p.Lys228=) c.423G>A (p.Lys141=) | |
11 | g.116835863T>A | CA382713950 | APOA1 | c.749A>T (p.Lys250Met) c.683A>T (p.Lys228Met) c.422A>T (p.Lys141Met) | |
11 | g.116835863T>C | CA229323842 | APOA1 | c.749A>G (p.Lys250Arg) c.683A>G (p.Lys228Arg) c.422A>G (p.Lys141Arg) | dbSNP |
11 | g.116835863T>G | CA382713964 | APOA1 | c.749A>C (p.Lys250Thr) c.683A>C (p.Lys228Thr) c.422A>C (p.Lys141Thr) | |
11 | g.116835863T= | CA2002761766 | APOA1 | c.749A= (p.Lys250=) c.683A= (p.Lys228=) c.422A= (p.Lys141=) | |
11 | g.116835864T>A | CA382713976 | APOA1 | c.748A>T (p.Lys250Ter) c.682A>T (p.Lys228Ter) c.421A>T (p.Lys141Ter) | |
11 | g.116835864T>C | CA382713977 | APOA1 | c.748A>G (p.Lys250Glu) c.682A>G (p.Lys228Glu) c.421A>G (p.Lys141Glu) | |
11 | g.116835864T>G | CA382713978 | APOA1 | c.748A>C (p.Lys250Gln) c.682A>C (p.Lys228Gln) c.421A>C (p.Lys141Gln) | |
11 | g.116835865G>A | CA477048536 | APOA1 | c.747C>T (p.Phe249=) c.681C>T (p.Phe227=) c.420C>T (p.Phe140=) | |
11 | g.116835865G>C | CA382713979 | APOA1 | c.747C>G (p.Phe249Leu) c.681C>G (p.Phe227Leu) c.420C>G (p.Phe140Leu) | |
11 | g.116835865G>T | CA382713982 | APOA1 | c.747C>A (p.Phe249Leu) c.681C>A (p.Phe227Leu) c.420C>A (p.Phe140Leu) | |
11 | g.116835866A>C | CA382713986 | APOA1 | c.746T>G (p.Phe249Cys) c.680T>G (p.Phe227Cys) c.419T>G (p.Phe140Cys) | |
11 | g.116835866A>G | CA382713987 | APOA1 | c.746T>C (p.Phe249Ser) c.680T>C (p.Phe227Ser) c.419T>C (p.Phe140Ser) | |
11 | g.116835866A>T | CA382713988 | APOA1 | c.746T>A (p.Phe249Tyr) c.680T>A (p.Phe227Tyr) c.419T>A (p.Phe140Tyr) | |
11 | g.116835867A>C | CA382713997 | APOA1 | c.745T>G (p.Phe249Val) c.679T>G (p.Phe227Val) c.418T>G (p.Phe140Val) | |
11 | g.116835867A>G | CA382713993 | APOA1 | c.745T>C (p.Phe249Leu) c.679T>C (p.Phe227Leu) c.418T>C (p.Phe140Leu) | |
11 | g.116835867A>T | CA382713991 | APOA1 | c.745T>A (p.Phe249Ile) c.679T>A (p.Phe227Ile) c.418T>A (p.Phe140Ile) | |
11 | g.116835867_116835870del | CA2695215577 | APOA1 | c.742_745del (p.Phe249ArgfsTer5) c.676_679del (p.Phe227ArgfsTer5) c.415_418del (p.Phe140ArgfsTer5) | |
11 | g.116835868G>A | CA477048537 | APOA1 | c.744C>T (p.Ser248=) c.678C>T (p.Ser226=) c.417C>T (p.Ser139=) | |
11 | g.116835868G>C | CA382713998 | APOA1 | c.744C>G (p.Ser248Arg) c.678C>G (p.Ser226Arg) c.417C>G (p.Ser139Arg) | |
11 | g.116835868G>T | CA382714002 | APOA1 | c.744C>A (p.Ser248Arg) c.678C>A (p.Ser226Arg) c.417C>A (p.Ser139Arg) | |
11 | g.116835869C>A | CA382714004 | APOA1 | c.743G>T (p.Ser248Ile) c.677G>T (p.Ser226Ile) c.416G>T (p.Ser139Ile) | |
11 | g.116835869C>G | CA382714008 | APOA1 | c.743G>C (p.Ser248Thr) c.677G>C (p.Ser226Thr) c.416G>C (p.Ser139Thr) | |
11 | g.116835869C>T | CA382714010 | APOA1 | c.743G>A (p.Ser248Asn) c.677G>A (p.Ser226Asn) c.416G>A (p.Ser139Asn) | |
11 | g.116835870T>A | CA382714024 | APOA1 | c.742A>T (p.Ser248Cys) c.676A>T (p.Ser226Cys) c.415A>T (p.Ser139Cys) | |
11 | g.116835870T>C | CA382714027 | APOA1 | c.742A>G (p.Ser248Gly) c.676A>G (p.Ser226Gly) c.415A>G (p.Ser139Gly) | |
11 | g.116835870T>G | CA382714031 | APOA1 | c.742A>C (p.Ser248Arg) c.676A>C (p.Ser226Arg) c.415A>C (p.Ser139Arg) | |
11 | g.116835871C>A | CA382714038 | APOA1 | c.741G>T (p.Glu247Asp) c.675G>T (p.Glu225Asp) c.414G>T (p.Glu138Asp) | |
11 | g.116835871C>G | CA382714039 | APOA1 | c.741G>C (p.Glu247Asp) c.675G>C (p.Glu225Asp) c.414G>C (p.Glu138Asp) | ClinVar gnomAD v4 |
11 | g.116835871C>T | CA477048538 | APOA1 | c.741G>A (p.Glu247=) c.675G>A (p.Glu225=) c.414G>A (p.Glu138=) | |
11 | g.116835872T>A | CA382714040 | APOA1 | c.740A>T (p.Glu247Val) c.674A>T (p.Glu225Val) c.413A>T (p.Glu138Val) | |
11 | g.116835872T>C | CA382714041 | APOA1 | c.740A>G (p.Glu247Gly) c.674A>G (p.Glu225Gly) c.413A>G (p.Glu138Gly) | |
11 | g.116835872T>G | CA382714043 | APOA1 | c.740A>C (p.Glu247Ala) c.674A>C (p.Glu225Ala) c.413A>C (p.Glu138Ala) | |
11 | g.116835873C>A | CA382714057 | APOA1 | c.739G>T (p.Glu247Ter) c.673G>T (p.Glu225Ter) c.412G>T (p.Glu138Ter) | |
11 | g.116835873C>G | CA382714061 | APOA1 | c.739G>C (p.Glu247Gln) c.673G>C (p.Glu225Gln) c.412G>C (p.Glu138Gln) | |
11 | g.116835873C>T | CA382714053 | APOA1 | c.739G>A (p.Glu247Lys) c.673G>A (p.Glu225Lys) c.412G>A (p.Glu138Lys) | |
11 | g.116835874C>A | CA477048539 | APOA1 | c.738G>T (p.Leu246=) c.672G>T (p.Leu224=) c.411G>T (p.Leu137=) | |
11 | g.116835874C>G | CA477048540 | APOA1 | c.738G>C (p.Leu246=) c.672G>C (p.Leu224=) c.411G>C (p.Leu137=) | |
11 | g.116835874C>T | CA477048541 | APOA1 | c.738G>A (p.Leu246=) c.672G>A (p.Leu224=) c.411G>A (p.Leu137=) | |
11 | g.116835875A>C | CA382714086 | APOA1 | c.737T>G (p.Leu246Arg) c.671T>G (p.Leu224Arg) c.410T>G (p.Leu137Arg) | |
11 | g.116835875A>G | CA382714067 | APOA1 | c.737T>C (p.Leu246Pro) c.671T>C (p.Leu224Pro) c.410T>C (p.Leu137Pro) | |
11 | g.116835875A>T | CA382714081 | APOA1 | c.737T>A (p.Leu246Gln) c.671T>A (p.Leu224Gln) c.410T>A (p.Leu137Gln) | |
11 | g.116835876G>A | CA477048542 | APOA1 | c.736C>T (p.Leu246=) c.670C>T (p.Leu224=) c.409C>T (p.Leu137=) | COSMIC |
11 | g.116835876G>C | CA382714090 | APOA1 | c.736C>G (p.Leu246Val) c.670C>G (p.Leu224Val) c.409C>G (p.Leu137Val) | gnomAD v4 |
11 | g.116835876G>T | CA382714093 | APOA1 | c.736C>A (p.Leu246Met) c.670C>A (p.Leu224Met) c.409C>A (p.Leu137Met) | |
11 | g.116835877C>A | CA477048544 | APOA1 | c.735G>T (p.Val245=) c.669G>T (p.Val223=) c.408G>T (p.Val136=) | |
11 | g.116835877C= | CA2002761767 | APOA1 | c.735G= (p.Val245=) c.669G= (p.Val223=) c.408G= (p.Val136=) | |
11 | g.116835877C>G | CA6289747 | APOA1 | c.735G>C (p.Val245=) c.669G>C (p.Val223=) c.408G>C (p.Val136=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.116835877C>T | CA477048543 | APOA1 | c.735G>A (p.Val245=) c.669G>A (p.Val223=) c.408G>A (p.Val136=) | gnomAD v4 |
11 | g.116835878A>C | CA382714121 | APOA1 | c.734T>G (p.Val245Gly) c.668T>G (p.Val223Gly) c.407T>G (p.Val136Gly) | |
11 | g.116835878A>G | CA382714128 | APOA1 | c.734T>C (p.Val245Ala) c.668T>C (p.Val223Ala) c.407T>C (p.Val136Ala) | |
11 | g.116835878A>T | CA382714131 | APOA1 | c.734T>A (p.Val245Glu) c.668T>A (p.Val223Glu) c.407T>A (p.Val136Glu) | |
11 | g.116835879C>A | CA382714132 | APOA1 | c.733G>T (p.Val245Leu) c.667G>T (p.Val223Leu) c.406G>T (p.Val136Leu) | gnomAD v4 |
11 | g.116835879C>G | CA382714133 | APOA1 | c.733G>C (p.Val245Leu) c.667G>C (p.Val223Leu) c.406G>C (p.Val136Leu) | |
11 | g.116835879C>T | CA382714134 | APOA1 | c.733G>A (p.Val245Met) c.667G>A (p.Val223Met) c.406G>A (p.Val136Met) | gnomAD v4 |
11 | g.116835880G>A | CA477048545 | APOA1 | c.732C>T (p.Pro244=) c.666C>T (p.Pro222=) c.405C>T (p.Pro135=) | ClinVar gnomAD v4 |
11 | g.116835880G>C | CA6289748 | APOA1 | c.732C>G (p.Pro244=) c.666C>G (p.Pro222=) c.405C>G (p.Pro135=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116835880G= | CA2002761768 | APOA1 | c.732C= (p.Pro244=) c.666C= (p.Pro222=) c.405C= (p.Pro135=) | |
11 | g.116835880G>T | CA477048546 | APOA1 | c.732C>A (p.Pro244=) c.666C>A (p.Pro222=) c.405C>A (p.Pro135=) | dbSNP |
11 | g.116835881G>A | CA382714146 | APOA1 | c.731C>T (p.Pro244Leu) c.665C>T (p.Pro222Leu) c.404C>T (p.Pro135Leu) | |
11 | g.116835881G>C | CA382714141 | APOA1 | c.731C>G (p.Pro244Arg) c.665C>G (p.Pro222Arg) c.404C>G (p.Pro135Arg) | |
11 | g.116835881G>T | CA382714145 | APOA1 | c.731C>A (p.Pro244His) c.665C>A (p.Pro222His) c.404C>A (p.Pro135His) | |
11 | g.116835882G>A | CA382714147 | APOA1 | c.730C>T (p.Pro244Ser) c.664C>T (p.Pro222Ser) c.403C>T (p.Pro135Ser) | gnomAD v4 |
11 | g.116835882G>C | CA382714148 | APOA1 | c.730C>G (p.Pro244Ala) c.664C>G (p.Pro222Ala) c.403C>G (p.Pro135Ala) | |
11 | g.116835882G>T | CA382714149 | APOA1 | c.730C>A (p.Pro244Thr) c.664C>A (p.Pro222Thr) c.403C>A (p.Pro135Thr) | |
11 | g.116835883C>A | CA477048547 | APOA1 | c.729G>T (p.Leu243=) c.663G>T (p.Leu221=) c.402G>T (p.Leu134=) | |
11 | g.116835883C>G | CA477048549 | APOA1 | c.729G>C (p.Leu243=) c.663G>C (p.Leu221=) c.402G>C (p.Leu134=) | |
11 | g.116835883C>T | CA477048548 | APOA1 | c.729G>A (p.Leu243=) c.663G>A (p.Leu221=) c.402G>A (p.Leu134=) | |
11 | g.116835884A= | CA2002761769 | APOA1 | c.728T= (p.Leu243=) c.662T= (p.Leu221=) c.401T= (p.Leu134=) | |
11 | g.116835884A>C | CA382714155 | APOA1 | c.728T>G (p.Leu243Arg) c.662T>G (p.Leu221Arg) c.401T>G (p.Leu134Arg) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.116835884A>G | CA382714158 | APOA1 | c.728T>C (p.Leu243Pro) c.662T>C (p.Leu221Pro) c.401T>C (p.Leu134Pro) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.116835884A>T | CA382714164 | APOA1 | c.728T>A (p.Leu243Gln) c.662T>A (p.Leu221Gln) c.401T>A (p.Leu134Gln) | |
11 | g.116835885G>A | CA477048550 | APOA1 | c.727C>T (p.Leu243=) c.661C>T (p.Leu221=) c.400C>T (p.Leu134=) | |
11 | g.116835885G>C | CA6289749 | APOA1 | c.727C>G (p.Leu243Val) c.661C>G (p.Leu221Val) c.400C>G (p.Leu134Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.116835885G= | CA2002761770 | APOA1 | c.727C= (p.Leu243=) c.661C= (p.Leu221=) c.400C= (p.Leu134=) | |
11 | g.116835885G>T | CA382714172 | APOA1 | c.727C>A (p.Leu243Met) c.661C>A (p.Leu221Met) c.400C>A (p.Leu134Met) | |
11 | g.116835886C>A | CA477048551 | APOA1 | c.726G>T (p.Leu242=) c.660G>T (p.Leu220=) c.399G>T (p.Leu133=) | |
11 | g.116835886C= | CA2002761771 | APOA1 | c.726G= (p.Leu242=) c.660G= (p.Leu220=) c.399G= (p.Leu133=) | |
11 | g.116835886C>G | CA6289750 | APOA1 | c.726G>C (p.Leu242=) c.660G>C (p.Leu220=) c.399G>C (p.Leu133=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116835886C>T | CA477048552 | APOA1 | c.726G>A (p.Leu242=) c.660G>A (p.Leu220=) c.399G>A (p.Leu133=) | |
11 | g.116835887A>C | CA382714180 | APOA1 | c.725T>G (p.Leu242Arg) c.659T>G (p.Leu220Arg) c.398T>G (p.Leu133Arg) | gnomAD v4 |
11 | g.116835887A>G | CA382714183 | APOA1 | c.725T>C (p.Leu242Pro) c.659T>C (p.Leu220Pro) c.398T>C (p.Leu133Pro) | |
11 | g.116835887A>T | CA382714186 | APOA1 | c.725T>A (p.Leu242Gln) c.659T>A (p.Leu220Gln) c.398T>A (p.Leu133Gln) | |
11 | g.116835888G>A | CA477048553 | APOA1 | c.724C>T (p.Leu242=) c.658C>T (p.Leu220=) c.397C>T (p.Leu133=) | |
11 | g.116835888G>C | CA382714191 | APOA1 | c.724C>G (p.Leu242Val) c.658C>G (p.Leu220Val) c.397C>G (p.Leu133Val) | |
11 | g.116835888G= | CA2002761772 | APOA1 | c.724C= (p.Leu242=) c.658C= (p.Leu220=) c.397C= (p.Leu133=) | |
11 | g.116835888G>T | CA6289751 | APOA1 | c.724C>A (p.Leu242Met) c.658C>A (p.Leu220Met) c.397C>A (p.Leu133Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116835889G>A | CA477048554 | APOA1 | c.723C>T (p.Gly241=) c.657C>T (p.Gly219=) c.396C>T (p.Gly132=) | dbSNP gnomAD v4 |
11 | g.116835889G>C | CA477048555 | APOA1 | c.723C>G (p.Gly241=) c.657C>G (p.Gly219=) c.396C>G (p.Gly132=) | |
11 | g.116835889G= | CA2002761773 | APOA1 | c.723C= (p.Gly241=) c.657C= (p.Gly219=) c.396C= (p.Gly132=) | |
11 | g.116835889G>T | CA477048556 | APOA1 | c.723C>A (p.Gly241=) c.657C>A (p.Gly219=) c.396C>A (p.Gly132=) | |
11 | g.116835890C>A | CA382714195 | APOA1 | c.722G>T (p.Gly241Val) c.656G>T (p.Gly219Val) c.395G>T (p.Gly132Val) | |
11 | g.116835890C>G | CA382714198 | APOA1 | c.722G>C (p.Gly241Ala) c.656G>C (p.Gly219Ala) c.395G>C (p.Gly132Ala) | gnomAD v4 |
11 | g.116835890C>T | CA382714201 | APOA1 | c.722G>A (p.Gly241Asp) c.656G>A (p.Gly219Asp) c.395G>A (p.Gly132Asp) | |
11 | g.116835891C>A | CA382714203 | APOA1 | c.721G>T (p.Gly241Cys) c.655G>T (p.Gly219Cys) c.394G>T (p.Gly132Cys) | |
11 | g.116835891C>G | CA382714205 | APOA1 | c.721G>C (p.Gly241Arg) c.655G>C (p.Gly219Arg) c.394G>C (p.Gly132Arg) | |
11 | g.116835891C>T | CA382714208 | APOA1 | c.721G>A (p.Gly241Ser) c.655G>A (p.Gly219Ser) c.394G>A (p.Gly132Ser) | gnomAD v4 |
11 | g.116835892T>A | CA382714217 | APOA1 | c.720A>T (p.Gln240His) c.654A>T (p.Gln218His) c.393A>T (p.Gln131His) | |
11 | g.116835892T>C | CA229323897 | APOA1 | c.720A>G (p.Gln240=) c.654A>G (p.Gln218=) c.393A>G (p.Gln131=) | dbSNP gnomAD v4 |
11 | g.116835892T>G | CA382714211 | APOA1 | c.720A>C (p.Gln240His) c.654A>C (p.Gln218His) c.393A>C (p.Gln131His) | |
11 | g.116835892T= | CA2002761774 | APOA1 | c.720A= (p.Gln240=) c.654A= (p.Gln218=) c.393A= (p.Gln131=) | |
11 | g.116835893T>A | CA382714220 | APOA1 | c.719A>T (p.Gln240Leu) c.653A>T (p.Gln218Leu) c.392A>T (p.Gln131Leu) | |
11 | g.116835893T>C | CA382714223 | APOA1 | c.719A>G (p.Gln240Arg) c.653A>G (p.Gln218Arg) c.392A>G (p.Gln131Arg) | |
11 | g.116835893T>G | CA382714230 | APOA1 | c.719A>C (p.Gln240Pro) c.653A>C (p.Gln218Pro) c.392A>C (p.Gln131Pro) | |
11 | g.116835894G>A | CA382714234 | APOA1 | c.718C>T (p.Gln240Ter) c.652C>T (p.Gln218Ter) c.391C>T (p.Gln131Ter) | |
11 | g.116835894G>C | CA382714236 | APOA1 | c.718C>G (p.Gln240Glu) c.652C>G (p.Gln218Glu) c.391C>G (p.Gln131Glu) | |
11 | g.116835894G= | CA2002761775 | APOA1 | c.718C= (p.Gln240=) c.652C= (p.Gln218=) c.391C= (p.Gln131=) | |
11 | g.116835894G>T | CA382714241 | APOA1 | c.718C>A (p.Gln240Lys) c.652C>A (p.Gln218Lys) c.391C>A (p.Gln131Lys) | dbSNP |
11 | g.116835895G>A | CA477048557 | APOA1 | c.717C>T (p.Arg239=) c.651C>T (p.Arg217=) c.390C>T (p.Arg130=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116835895G>C | CA477048558 | APOA1 | c.717C>G (p.Arg239=) c.651C>G (p.Arg217=) c.390C>G (p.Arg130=) | |
11 | g.116835895G= | CA2002761776 | APOA1 | c.717C= (p.Arg239=) c.651C= (p.Arg217=) c.390C= (p.Arg130=) | |
11 | g.116835895G>T | CA477048559 | APOA1 | c.717C>A (p.Arg239=) c.651C>A (p.Arg217=) c.390C>A (p.Arg130=) | |
11 | g.116835896C>A | CA382714244 | APOA1 | c.716G>T (p.Arg239Leu) c.650G>T (p.Arg217Leu) c.389G>T (p.Arg130Leu) | dbSNP |
11 | g.116835896C= | CA2002761778 | APOA1 | c.716G= (p.Arg239=) c.650G= (p.Arg217=) c.389G= (p.Arg130=) | |
11 | g.116835896C>G | CA382714250 | APOA1 | c.716G>C (p.Arg239Pro) c.650G>C (p.Arg217Pro) c.389G>C (p.Arg130Pro) | |
11 | g.116835896C>T | CA382714247 | APOA1 | c.716G>A (p.Arg239His) c.650G>A (p.Arg217His) c.389G>A (p.Arg130His) | |
11 | g.116835896_116835899delinsCGGA | CA2002761777 | APOA1 | c.713_716delinsTCCG (p.Leu238=) c.647_650delinsTCCG (p.Leu216=) c.386_389delinsTCCG (p.Leu129=) | |
11 | g.116835897G>A | CA382714255 | APOA1 | c.715C>T (p.Arg239Cys) c.649C>T (p.Arg217Cys) c.388C>T (p.Arg130Cys) | |
11 | g.116835897G>C | CA382714264 | APOA1 | c.715C>G (p.Arg239Gly) c.649C>G (p.Arg217Gly) c.388C>G (p.Arg130Gly) | |
11 | g.116835897G>T | CA382714267 | APOA1 | c.715C>A (p.Arg239Ser) c.649C>A (p.Arg217Ser) c.388C>A (p.Arg130Ser) | |
11 | g.116835899_116835901del | CA6289752 | APOA1 | c.713_715del (p.Leu238del) c.647_649del (p.Leu216del) c.386_388del (p.Leu129del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.116835898G>A | CA477048560 | APOA1 | c.714C>T (p.Leu238=) c.648C>T (p.Leu216=) c.387C>T (p.Leu129=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.116835898G>C | CA477048561 | APOA1 | c.714C>G (p.Leu238=) c.648C>G (p.Leu216=) c.387C>G (p.Leu129=) | dbSNP gnomAD v2 |
11 | g.116835898G= | CA2002761779 | APOA1 | c.714C= (p.Leu238=) c.648C= (p.Leu216=) c.387C= (p.Leu129=) | |
11 | g.116835898G>T | CA477048562 | APOA1 | c.714C>A (p.Leu238=) c.648C>A (p.Leu216=) c.387C>A (p.Leu129=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.116835899A= | CA2002761780 | APOA1 | c.713T= (p.Leu238=) c.647T= (p.Leu216=) c.386T= (p.Leu129=) | |
11 | g.116835899A>C | CA382714273 | APOA1 | c.713T>G (p.Leu238Arg) c.647T>G (p.Leu216Arg) c.386T>G (p.Leu129Arg) | |
11 | g.116835899A>G | CA6289753 | APOA1 | c.713T>C (p.Leu238Pro) c.647T>C (p.Leu216Pro) c.386T>C (p.Leu129Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.116835899A>T | CA382714277 | APOA1 | c.713T>A (p.Leu238His) c.647T>A (p.Leu216His) c.386T>A (p.Leu129His) | |
11 | g.116835900G>A | CA382714280 | APOA1 | c.712C>T (p.Leu238Phe) c.646C>T (p.Leu216Phe) c.385C>T (p.Leu129Phe) | |
11 | g.116835900G>C | CA382714283 | APOA1 | c.712C>G (p.Leu238Val) c.646C>G (p.Leu216Val) c.385C>G (p.Leu129Val) | |
11 | g.116835900G= | CA2002761781 | APOA1 | c.712C= (p.Leu238=) c.646C= (p.Leu216=) c.385C= (p.Leu129=) | |
11 | g.116835900G>T | CA382714286 | APOA1 | c.712C>A (p.Leu238Ile) c.646C>A (p.Leu216Ile) c.385C>A (p.Leu129Ile) | dbSNP gnomAD v4 |
11 | g.116835901G>A | CA477048563 | APOA1 | c.711C>T (p.Asp237=) c.645C>T (p.Asp215=) c.384C>T (p.Asp128=) | ClinVar gnomAD v4 |
11 | g.116835901G>C | CA382714287 | APOA1 | c.711C>G (p.Asp237Glu) c.645C>G (p.Asp215Glu) c.384C>G (p.Asp128Glu) | |
11 | g.116835901G>T | CA382714288 | APOA1 | c.711C>A (p.Asp237Glu) c.645C>A (p.Asp215Glu) c.384C>A (p.Asp128Glu) | |
11 | g.116835902T>A | CA382714292 | APOA1 | c.710A>T (p.Asp237Val) c.644A>T (p.Asp215Val) c.383A>T (p.Asp128Val) | |
11 | g.116835902T>C | CA382714298 | APOA1 | c.710A>G (p.Asp237Gly) c.644A>G (p.Asp215Gly) c.383A>G (p.Asp128Gly) | |
11 | g.116835902T>G | CA382714290 | APOA1 | c.710A>C (p.Asp237Ala) c.644A>C (p.Asp215Ala) c.383A>C (p.Asp128Ala) | |
11 | g.116835903C>A | CA382714305 | APOA1 | c.709G>T (p.Asp237Tyr) c.643G>T (p.Asp215Tyr) c.382G>T (p.Asp128Tyr) | gnomAD v4 |
11 | g.116835903C>G | CA382714302 | APOA1 | c.709G>C (p.Asp237His) c.643G>C (p.Asp215His) c.382G>C (p.Asp128His) | |
11 | g.116835903C>T | CA382714308 | APOA1 | c.709G>A (p.Asp237Asn) c.643G>A (p.Asp215Asn) c.382G>A (p.Asp128Asn) | |
11 | g.116835904C>A | CA382714311 | APOA1 | c.708G>T (p.Glu236Asp) c.642G>T (p.Glu214Asp) c.381G>T (p.Glu127Asp) | |
11 | g.116835904C>G | CA382714312 | APOA1 | c.708G>C (p.Glu236Asp) c.642G>C (p.Glu214Asp) c.381G>C (p.Glu127Asp) | |
11 | g.116835904C>T | CA477048564 | APOA1 | c.708G>A (p.Glu236=) c.642G>A (p.Glu214=) c.381G>A (p.Glu127=) | |
11 | g.116835905T>A | CA382714317 | APOA1 | c.707A>T (p.Glu236Val) c.641A>T (p.Glu214Val) c.380A>T (p.Glu127Val) | |
11 | g.116835905T>C | CA382714320 | APOA1 | c.707A>G (p.Glu236Gly) c.641A>G (p.Glu214Gly) c.380A>G (p.Glu127Gly) | |
11 | g.116835905T>G | CA382714322 | APOA1 | c.707A>C (p.Glu236Ala) c.641A>C (p.Glu214Ala) c.380A>C (p.Glu127Ala) | |
11 | g.116835906C>A | CA382714325 | APOA1 | c.706G>T (p.Glu236Ter) c.640G>T (p.Glu214Ter) c.379G>T (p.Glu127Ter) | |
11 | g.116835906C= | CA2002761782 | APOA1 | c.706G= (p.Glu236=) c.640G= (p.Glu214=) c.379G= (p.Glu127=) | |
11 | g.116835906C>G | CA382714328 | APOA1 | c.706G>C (p.Glu236Gln) c.640G>C (p.Glu214Gln) c.379G>C (p.Glu127Gln) | dbSNP |
11 | g.116835906C>T | CA6289754 | APOA1 | c.706G>A (p.Glu236Lys) c.640G>A (p.Glu214Lys) c.379G>A (p.Glu127Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.116835907G>A | CA477048565 | APOA1 | c.705C>T (p.Leu235=) c.639C>T (p.Leu213=) c.378C>T (p.Leu126=) | ClinVar gnomAD v4 |
11 | g.116835907G>C | CA477048566 | APOA1 | c.705C>G (p.Leu235=) c.639C>G (p.Leu213=) c.378C>G (p.Leu126=) | ClinVar dbSNP |
11 | g.116835907G= | CA2002761783 | APOA1 | c.705C= (p.Leu235=) c.639C= (p.Leu213=) c.378C= (p.Leu126=) | |
11 | g.116835907G>T | CA477048567 | APOA1 | c.705C>A (p.Leu235=) c.639C>A (p.Leu213=) c.378C>A (p.Leu126=) | gnomAD v4 |
11 | g.116835908A>C | CA382714334 | APOA1 | c.704T>G (p.Leu235Arg) c.638T>G (p.Leu213Arg) c.377T>G (p.Leu126Arg) | |
11 | g.116835908A>G | CA382714337 | APOA1 | c.704T>C (p.Leu235Pro) c.638T>C (p.Leu213Pro) c.377T>C (p.Leu126Pro) | |
11 | g.116835908A>T | CA382714340 | APOA1 | c.704T>A (p.Leu235His) c.638T>A (p.Leu213His) c.377T>A (p.Leu126His) | |
11 | g.116835909G>A | CA382714342 | APOA1 | c.703C>T (p.Leu235Phe) c.637C>T (p.Leu213Phe) c.376C>T (p.Leu126Phe) | gnomAD v4 |
11 | g.116835909G>C | CA382714344 | APOA1 | c.703C>G (p.Leu235Val) c.637C>G (p.Leu213Val) c.376C>G (p.Leu126Val) | ClinVar dbSNP gnomAD v4 |
11 | g.116835909G= | CA2002761784 | APOA1 | c.703C= (p.Leu235=) c.637C= (p.Leu213=) c.376C= (p.Leu126=) | |
11 | g.116835909G>T | CA382714348 | APOA1 | c.703C>A (p.Leu235Ile) c.637C>A (p.Leu213Ile) c.376C>A (p.Leu126Ile) | |
11 | g.116835910C>A | CA477048568 | APOA1 | c.702G>T (p.Ala234=) c.636G>T (p.Ala212=) c.375G>T (p.Ala125=) | |
11 | g.116835910C= | CA2002761785 | APOA1 | c.702G= (p.Ala234=) c.636G= (p.Ala212=) c.375G= (p.Ala125=) | |
11 | g.116835910C>G | CA477048569 | APOA1 | c.702G>C (p.Ala234=) c.636G>C (p.Ala212=) c.375G>C (p.Ala125=) | |
11 | g.116835910C>T | CA477048570 | APOA1 | c.702G>A (p.Ala234=) c.636G>A (p.Ala212=) c.375G>A (p.Ala125=) | dbSNP |
11 | g.116835911G>A | CA382714358 | APOA1 | c.701C>T (p.Ala234Val) c.635C>T (p.Ala212Val) c.374C>T (p.Ala125Val) | dbSNP |
11 | g.116835911G>C | CA382714354 | APOA1 | c.701C>G (p.Ala234Gly) c.635C>G (p.Ala212Gly) c.374C>G (p.Ala125Gly) | |
11 | g.116835911G= | CA2002761786 | APOA1 | c.701C= (p.Ala234=) c.635C= (p.Ala212=) c.374C= (p.Ala125=) | |
11 | g.116835911G>T | CA382714352 | APOA1 | c.701C>A (p.Ala234Glu) c.635C>A (p.Ala212Glu) c.374C>A (p.Ala125Glu) | |
11 | g.116835912C>A | CA382714361 | APOA1 | c.700G>T (p.Ala234Ser) c.634G>T (p.Ala212Ser) c.373G>T (p.Ala125Ser) | |
11 | g.116835912C>G | CA382714363 | APOA1 | c.700G>C (p.Ala234Pro) c.634G>C (p.Ala212Pro) c.373G>C (p.Ala125Pro) | |
11 | g.116835912C>T | CA382714364 | APOA1 | c.700G>A (p.Ala234Thr) c.634G>A (p.Ala212Thr) c.373G>A (p.Ala125Thr) | |
11 | g.116835913G>A | CA6289755 | APOA1 | c.699C>T (p.Pro233=) c.633C>T (p.Pro211=) c.372C>T (p.Pro124=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116835913G>C | CA477048572 | APOA1 | c.699C>G (p.Pro233=) c.633C>G (p.Pro211=) c.372C>G (p.Pro124=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.116835913G= | CA2002761787 | APOA1 | c.699C= (p.Pro233=) c.633C= (p.Pro211=) c.372C= (p.Pro124=) | |
11 | g.116835913G>T | CA477048571 | APOA1 | c.699C>A (p.Pro233=) c.633C>A (p.Pro211=) c.372C>A (p.Pro124=) | dbSNP gnomAD v4 COSMIC |
11 | g.116835915dup | CA2841757719 | APOA1 | c.699dup (p.Ala234ArgfsTer29) c.633dup (p.Ala212ArgfsTer29) c.372dup (p.Ala125ArgfsTer29) | |
11 | g.116835914G>A | CA382714372 | APOA1 | c.698C>T (p.Pro233Leu) c.632C>T (p.Pro211Leu) c.371C>T (p.Pro124Leu) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
11 | g.116835914G>C | CA382714379 | APOA1 | c.698C>G (p.Pro233Arg) c.632C>G (p.Pro211Arg) c.371C>G (p.Pro124Arg) | |
11 | g.116835914G= | CA2002761788 | APOA1 | c.698C= (p.Pro233=) c.632C= (p.Pro211=) c.371C= (p.Pro124=) | |
11 | g.116835914G>T | CA382714381 | APOA1 | c.698C>A (p.Pro233His) c.632C>A (p.Pro211His) c.371C>A (p.Pro124His) | dbSNP |
11 | g.116835915G>A | CA382714385 | APOA1 | c.697C>T (p.Pro233Ser) c.631C>T (p.Pro211Ser) c.370C>T (p.Pro124Ser) | |
11 | g.116835915G>C | CA382714387 | APOA1 | c.697C>G (p.Pro233Ala) c.631C>G (p.Pro211Ala) c.370C>G (p.Pro124Ala) | |
11 | g.116835915G>T | CA382714390 | APOA1 | c.697C>A (p.Pro233Thr) c.631C>A (p.Pro211Thr) c.370C>A (p.Pro124Thr) | |
11 | g.116835916C>A | CA382714393 | APOA1 | c.696G>T (p.Lys232Asn) c.630G>T (p.Lys210Asn) c.369G>T (p.Lys123Asn) | |
11 | g.116835916C>G | CA382714394 | APOA1 | c.696G>C (p.Lys232Asn) c.630G>C (p.Lys210Asn) c.369G>C (p.Lys123Asn) | |
11 | g.116835916C>T | CA477048574 | APOA1 | c.696G>A (p.Lys232=) c.630G>A (p.Lys210=) c.369G>A (p.Lys123=) | |
11 | g.116835917T>A | CA382714405 | APOA1 | c.695A>T (p.Lys232Met) c.629A>T (p.Lys210Met) c.368A>T (p.Lys123Met) | |
11 | g.116835917T>C | CA382714403 | APOA1 | c.695A>G (p.Lys232Arg) c.629A>G (p.Lys210Arg) c.368A>G (p.Lys123Arg) | |
11 | g.116835917T>G | CA382714399 | APOA1 | c.695A>C (p.Lys232Thr) c.629A>C (p.Lys210Thr) c.368A>C (p.Lys123Thr) | |
11 | g.116835918T>A | CA382714411 | APOA1 | c.694A>T (p.Lys232Ter) c.628A>T (p.Lys210Ter) c.367A>T (p.Lys123Ter) | |
11 | g.116835918T>C | CA382714415 | APOA1 | c.694A>G (p.Lys232Glu) c.628A>G (p.Lys210Glu) c.367A>G (p.Lys123Glu) | |
11 | g.116835918T>G | CA382714418 | APOA1 | c.694A>C (p.Lys232Gln) c.628A>C (p.Lys210Gln) c.367A>C (p.Lys123Gln) | |
11 | g.116835919G>A | CA477048575 | APOA1 | c.693C>T (p.Ala231=) c.627C>T (p.Ala209=) c.366C>T (p.Ala122=) | |
11 | g.116835919G>C | CA477048576 | APOA1 | c.693C>G (p.Ala231=) c.627C>G (p.Ala209=) c.366C>G (p.Ala122=) | ClinVar gnomAD v4 |
11 | g.116835919G>T | CA477048577 | APOA1 | c.693C>A (p.Ala231=) c.627C>A (p.Ala209=) c.366C>A (p.Ala122=) | |
11 | g.116835919_116835940dup | CA2616111912 | APOA1 | c.672_693dup (p.Lys232GlufsTer?) c.606_627dup (p.Lys210GlufsTer?) c.345_366dup (p.Lys123GlufsTer?) | gnomAD v4 |
11 | g.116835920G>A | CA382714422 | APOA1 | c.692C>T (p.Ala231Val) c.626C>T (p.Ala209Val) c.365C>T (p.Ala122Val) | |
11 | g.116835920G>C | CA382714425 | APOA1 | c.692C>G (p.Ala231Gly) c.626C>G (p.Ala209Gly) c.365C>G (p.Ala122Gly) | |
11 | g.116835920G>T | CA382714428 | APOA1 | c.692C>A (p.Ala231Asp) c.626C>A (p.Ala209Asp) c.365C>A (p.Ala122Asp) | |
11 | g.116835921C>A | CA382714436 | APOA1 | c.691G>T (p.Ala231Ser) c.625G>T (p.Ala209Ser) c.364G>T (p.Ala122Ser) | |
11 | g.116835921C>G | CA382714431 | APOA1 | c.691G>C (p.Ala231Pro) c.625G>C (p.Ala209Pro) c.364G>C (p.Ala122Pro) | |
11 | g.116835921C>T | CA382714434 | APOA1 | c.691G>A (p.Ala231Thr) c.625G>A (p.Ala209Thr) c.364G>A (p.Ala122Thr) | |
11 | g.116835921_116835924delinsCCTT | CA2002761789 | APOA1 | c.688_691delinsAAGG (p.Lys230=) c.622_625delinsAAGG (p.Lys208=) c.361_364delinsAAGG (p.Lys121=) | |
11 | g.116835922C>A | CA382714439 | APOA1 | c.690G>T (p.Lys230Asn) c.624G>T (p.Lys208Asn) c.363G>T (p.Lys121Asn) | |
11 | g.116835922C= | CA2002761790 | APOA1 | c.690G= (p.Lys230=) c.624G= (p.Lys208=) c.363G= (p.Lys121=) | |
11 | g.116835922C>G | CA382714442 | APOA1 | c.690G>C (p.Lys230Asn) c.624G>C (p.Lys208Asn) c.363G>C (p.Lys121Asn) | |
11 | g.116835922C>T | CA477048578 | APOA1 | c.690G>A (p.Lys230=) c.624G>A (p.Lys208=) c.363G>A (p.Lys121=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.116835924_116835926del | CA602136485 | APOA1 | c.688_690del (p.Lys230del) c.622_624del (p.Lys208del) c.361_363del (p.Lys121del) | dbSNP gnomAD v2 |
11 | g.116835923T>A | CA382714445 | APOA1 | c.689A>T (p.Lys230Met) c.623A>T (p.Lys208Met) c.362A>T (p.Lys121Met) | |
11 | g.116835923T>C | CA382714446 | APOA1 | c.689A>G (p.Lys230Arg) c.623A>G (p.Lys208Arg) c.362A>G (p.Lys121Arg) | |
11 | g.116835923T>G | CA382714447 | APOA1 | c.689A>C (p.Lys230Thr) c.623A>C (p.Lys208Thr) c.362A>C (p.Lys121Thr) | |
11 | g.116835924T>A | CA382714448 | APOA1 | c.688A>T (p.Lys230Ter) c.622A>T (p.Lys208Ter) c.361A>T (p.Lys121Ter) | |
11 | g.116835924T>C | CA382714451 | APOA1 | c.688A>G (p.Lys230Glu) c.622A>G (p.Lys208Glu) c.361A>G (p.Lys121Glu) | |
11 | g.116835924T>G | CA382714449 | APOA1 | c.688A>C (p.Lys230Gln) c.622A>C (p.Lys208Gln) c.361A>C (p.Lys121Gln) | |
11 | g.116835925C>A | CA382714454 | APOA1 | c.687G>T (p.Glu229Asp) c.621G>T (p.Glu207Asp) c.360G>T (p.Glu120Asp) | |
11 | g.116835925C= | CA2002761791 | APOA1 | c.687G= (p.Glu229=) c.621G= (p.Glu207=) c.360G= (p.Glu120=) | |
11 | g.116835925C>G | CA382714456 | APOA1 | c.687G>C (p.Glu229Asp) c.621G>C (p.Glu207Asp) c.360G>C (p.Glu120Asp) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.116835925C>T | CA477048579 | APOA1 | c.687G>A (p.Glu229=) c.621G>A (p.Glu207=) c.360G>A (p.Glu120=) | ClinVar gnomAD v4 COSMIC |
11 | g.116835926T>A | CA382714459 | APOA1 | c.686A>T (p.Glu229Val) c.620A>T (p.Glu207Val) c.359A>T (p.Glu120Val) | |
11 | g.116835926T>C | CA382714462 | APOA1 | c.686A>G (p.Glu229Gly) c.620A>G (p.Glu207Gly) c.359A>G (p.Glu120Gly) | |
11 | g.116835926T>G | CA382714465 | APOA1 | c.686A>C (p.Glu229Ala) c.620A>C (p.Glu207Ala) c.359A>C (p.Glu120Ala) | |
11 | g.116835927C>A | CA382714473 | APOA1 | c.685G>T (p.Glu229Ter) c.619G>T (p.Glu207Ter) c.358G>T (p.Glu120Ter) | gnomAD v4 COSMIC |
11 | g.116835927C= | CA2002761792 | APOA1 | c.685G= (p.Glu229=) c.619G= (p.Glu207=) c.358G= (p.Glu120=) | |
11 | g.116835927C>G | CA382714475 | APOA1 | c.685G>C (p.Glu229Gln) c.619G>C (p.Glu207Gln) c.358G>C (p.Glu120Gln) | |
11 | g.116835927C>T | CA6289756 | APOA1 | c.685G>A (p.Glu229Lys) c.619G>A (p.Glu207Lys) c.358G>A (p.Glu120Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |