| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.116830247_116836307delinsAGACAGAGGGCCTGAGGCAGGAGATGAGCAAGGATCTGGAGGAGGTGAAGGCCAAGGTGCAGCCCTACCTGGACGACTTCCAGAAGAAGTGGCAGGAGGAGATGGAGCTCTACCGCCAGAAGGTGGAGCCGCTGCGCGCAGAGCTCCAAGAGGGCGCGCGCCAGAAGCTGCACGAGCTGCAAGAGAAGCTGAGCCCACTGGGCGAGGAGATGCGCGACCGCGCGCGCGCCCATGTGGACGCGCTGCGCACGCATCTGGCCCCCTACAGCGACGAGCTGCGCCAGCGCTTGGCCGCGCGCCTTGAGGCTCTCAAGGAGAACGGCGGCGCCAGACTGGCCGAGTACCACGCCAAGGCCACCGAGCATCTGAGCACGCTCAGCGAGAAGGCCAAGCCCGCGCTCGAGGACCTCCGCCAAGGCCTGCTGCCCGTGCTGGAGAGCTTCAAGGTCAGCTTCCTGAGCGCTCTCGAGGAGTACACTAAGAAGCTCAACACCCAGTGAGGCGCCCGCCGCCGCCCCCCTTCCCGGTGCTCAGAATAAACGTTTCCAAAGTGGGAAGCAGCTTCTTTCTTTTGGGAGAATAGAGGGGGGTGCGGGGACATCCGGGGGAGCCCGGGTGGGGCCTTTGGCCCTGGAGCAGGGACTTCCTGCCGGATCTCAACAACTCCGTGCCCAGACTGGACGTCTTAGGGCCAAGATCGACGTTGGAGGACCTGCTGGACGCCTGGCTGCTTACGAGTGAGGGAGTAGAGTCTGCCTTAGCAAGGCTCAAGTAGAAAGGAAGTCACAGCGGACCAGGCAAAGCCACAGACAATCCAAGGCCAGGTGCCCTGAAAGGGGCTCAAACAAGGCCTGCAGCCCTGTCTGAGGCGGGCCAGGAAACAGGGTTGCTTTAGCTGGGAGCAGTGGGTTCCCCGTCCCCAGAGGTGTGTCCGTATAGAGCCTTCTCCAGCCCAGCCGCTGTCAGCGGGGCGGGACGGAGCGGGGCGGCCTCAGGGAGCCAGCCACTGGGATTGGGGTTTGGTCCCGGGTGCAAGTGAAGCGCTTGGAGTTTGCGCCTGTCCTCCTTTACTAATTCAAAAACCTCTCAAACAGACACTTCCCTTTTCTTCTCACAAGGCCAGTATCCCCCTCCCACTACTCCCATCCCGCCCAGAAACAGCCGCGGCTTCCTCAGGCACAGCAGTGGAAGCCAGTCCTCCACCCCCTGCGGCTCCATGCCATGCCACCCCCTCTTTCTGCCAGCCCTGGCAGAAGCTGGCCTGAGTAAGAAAATTCACCACCACCTCTTGCAGGTACATTTTTATTTCCAAGATGCTCTCATATCTGTGCTCTCACTGCATCCTCCCTTCCCCACATCCTGGCTAGATTGCCATCAGACGCAGAGCATGGATGAGGACACTGAAGCCTGGACCTGTGACGTCGCTTGCCCAGTGAACAGCAGGATGGGCTAGGCCGCGCTTTTTAGACCCTGCACCCCTGGCCATCCATGATTATTGAAAAGAGTGCGCGGGTCGGGTGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGTATCACTTCAGGCCAGGAGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATCAGCTGGGCATGGTGGCTTGCACCCGTAATCCCAGCTACTAGGAAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTCACAGTGAGCCGAAATCATGCCACTGCACTCCAGCCTGGGCGACGGAGCAAGACTCCAGCTAAAAAAAAAAAAAAAAAAAAAAGAGTGTGTGGCCTGGCACTCAAGTTCACATGGGTGTGCAGGCATGCCTGTGTATTCTCACATGACCTCCCTGCTCACGGTCCCTCCTTGCACTCATGTCTGAATGTCCCCGCGTGCACGCACATGGCTTCACAGATCTGGGCAGTGCCTTCCCTACCCTCTCTCTGCAGGGCCTTTTGCCCCCTCATGCAGGCCCCTGGATAATCGGCCCCATCCCCATGTCCCCATCTCCAGTGTATCTTAGCTACCCTAGGTAAAGGAGTGGGCTTTTTAGTTCCTAACCTTCCAGAGCTACAACAGCAGTCATCCAGCCAGGTCTGGGTGGGAACATTTTCTAGATACGGGTGCTGAGATCTCTCAGCCCAGAGAGAAGCCCTGGGGAATTTTCAGAGAGAAAGCAGTCTCCAGGTGGGGCTGGATGTACTGATGCCACTGAGATCTGTAAAGGAGTCCCTAACACCTGACATAGGAGTGACAAAACTGTTTTCTGCACCAACTGAGCAGAATACACGCAGCTGACCTGGGCTCAAGGTCTGGCCCTGCCACGTGCTGGCTCTGTGATGCTGGCCAAGTGCCTTCGCCTCTCCGGGCCACAGTTTTTTGATCTGAAGAGTGGAGCCCTACTCAAGCCATCTGCAGCTCTCGGGCTCTCTGACCTGACATCTTTCGGGTGGTGGGGACACAAAGGAAGCAGCCTCTATTGGGAGACCTTGTGCTTCTTTTTGGTCCCAGGACACTGCCCCCCACCACTCCAGTCCGGGTCCCAAGGGCCCAGTCAGCTCAACTGTAATCATGACAACATTGATCAAGCATCTTTACGTGCAGGTGCTGTGCCAAACGGTTCGAACGCTCTCTCATTTCAATCTCACGGCAAACCTACGGTGGAGGGGGTACGGTTGTATCCACTTTACATGTAAGAAACTGAGGCTGATATCAAGTGGTGGAGCCAAGAATAGTGCCTCGTTGCATCTTACTCCAACCTCTAGCCCATCCGGCCTCCTCCCTTCACGTGCGCCTAAGAGGGCTAGGGGGCCTGGATAGGGGAGGTCAGCTCCACAGTTTTGAGTAAACACACACAGTCTCAACTCTGATGACAACTTAAGTGCCAGGCATAGTGGCTGGCATGGGGCACACACTCAAGTCATGTTGTGCAGCACCTAACAGTTTATCAAAGTATCAGCAAACTTATTGTCCTGTTTGACCTTCCGCACAAAGCTGTCAAGGAAGGCAGGGTACGGAGGGTGATTCCTACCTTAGAGATGAAGAAACTGAGGCCCAGAGACTGCCCAGCTACCAGAAGGTGGATAGAGCGCTGGCCTCCATGCCTGCCTGACCTGGAGTCTGTCCAGTGCCCACCCACAGAACAGCCTCGGCCCTTTCCCATGCCCAGACACAGATGGCACACTTGCGACGGCCCACTCATAGCAGCTTCTTGTCCAGCTTTATTGGGAGGCCAGCATGCCTGGAGGGGGGCCAGGCATGAGGTGGGGTAGGAGAGCACTGAGAATACTGTCCCTTTTAAGCAACCTACAGGGGCAGCCCTGGAGATTGCAGGACCCAAGGAGCTCGCAGGATGGATAGGCAGGTGGACTTGGGGTATTGAGGTCTCAGGCAGCCACGGCTGAAGTTGGTCTGACCTCAGGGTCCAAATCCCAGAACTCAGAGAACTTGTCCTTAACGGTGCTCCAGTAGTCTTTCAGGGAACTGAAGCCATCGGTCACCCAGCCCCTAAATCAGTCAGGGGAAGCAACAGAGCAGGGCATGAGAACTCCTCTGTAGGCAACCATGGGACCCACACCCATGTCCCCACTGGACGACACCAGTCAGGACCACACCACCCTCTCAACTTCACTGGACGACAGCCCTGAGACCTCAGGCAGGAATCCCCCACAGCTGCCACCCTGGGAGAAGAGATATCCTTGCAGGAACCCCAGCACAAGTCAAACCCTGCCATCTCCAGGTCACCTCAGATGTTTATGCCCCTGGGCCTGAGGCACAAAGTGACAGGGTGGGGAGATGTGAAAGGTCAAGGCTGTCATTGTTTTCTGTGCAAACAGCACCGCCTGGAGTTGCACAACCTGGTGGCTCTGAGCAGGGTAGGACAGAGGGAGGCAGCCTCTCATTTGGAAAGTCATTGGAGGATTGATTAGTTGTGTGATCTGGGGCAGGTCACCTAATCGCTCTGAGCCTCAATTTTCTCATCTGCAAAGTGAGAAAATAACACCTACCCCAAAGCCGGTTCTGGGGACTAAGAATGTTTATGAACACCTCTGCTATGCCAGCTAATGCCAGTCAGGGTGAGGTGGAGAAGGGAGTAGGGGAGAGGAGAGTACTGATGGGCAGGGGCAGGATGGGAGAGGAAGGACACACTTCTGCTCACACTGGCCCCAGGTCTTAGAACAAAGCAGAAGCACTCACGGGCTTGAATTGGGTCAGGTGGGGCCTCCCAAGGCAAACCCCTAGCCCAGGGGTCCCCAACCCCCAAGTCATAGATAGGTACTGGTCCATGGACTGTTAGGAGCCGGGCTGCACAGCACGAAGTGAGTGGTGGGTGAGTGAGCAATACCGCCTGAGCTCCGCCTCCTGTCAGATCAAGTGGCCTTACATTCTCATAGGAGTGTGAACCCTATTGTGAACTGCACATGCCAGGGATCTAGGTGGAGGGCTCCTTATGAGAATCTAATGCCTGATGATCTGAGGTGGAACAGCTTCATCCCAAAACCATCCCCGCTGGCCCATGGAAAAATTGTCCACCACAAAACTGGTCCCTGGTGCCAAAAAGGCTGAGGACCACTGCTCTAGCCAGACCTTCAGAAAAGGAAAATGGGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCCCCTGAGGTCAGGAATTCAAGACCAACCTGGCCAACATGGTGAAACCCCATCTCTGCTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGGTTGAACCCGGGAGACGGAGGTTGCAGTGAGCCGAGATGGCACCACTGCACTCCAGCCTAGGTGACAGAGGGAGACTCCATTAAAAAAAAAAGAAGAAGAAAGAAAGAGAGAAAGGAAGAGAGGGAAAGAAAGAAAAAGGAAAGAAAGAAAGAAAGAGAAAGAAAGGAAAGAAAGAAAGAAAGGAAAGAAAGAAAGGAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAATAGAAAGAGAAAGAAAGGGAAAGGAAAGGAAAATGGAAATGAGGGCTAAAACGGCACGCCCTAGGACTGCTCCGGGGAGAAAGGAGGGACCTGGGAGGAATGCAGTCTCAACTCTGTCATCTCTCCCGCAGCAGCCTGACAAAGGCCCTGTGAGGAAAGAGGAGGCTGAAGAGGCACAGGCCCAGGGGAGGCTGGAGCACCTCCATTCCATTGTTGGGATCTCACCAGGGCAGGGGCGGGTGGGAATGGAGGCAGCTGGCAGGGGGGATGGGGAGGGAGGCCAGCGGGTGTACCTGGCCTGCTGGGCCACCTGGGACTCCTGCACGCTGCTCAGTGCATCCTTGGCGGTCTTGGTGGCGTGCTTCATGTAACCCTGCATGAAGCTGAGAAGGGAGGCATCCTCGGCCTCTGAAGCTCCTGAGGAAAGAGCAGGGCTGAGTGGGGTGGATCGGCCTCTGGACGAGCCCTGGGCTCCTGCTTGACCACCCATTGGGACTGGGATCCCCAAGTTGCCTCCACCCTGCCCCCAGCCCAGTCCCACCAAGTGCTTACGGGCAGAGGCCAGGAGCGCCAGGAGGGCAACAACAAGGAGTACCCGGGGCTGCATGGCACCTCTGTTCCTGCAAGGAAGTGTCCTGTGAGGGGCACCCCAGGTCCCCATGCCTCTGGACCCCTCCCTGGGGAGGTGGCGTGGCCCCTAAGGTAGAACCTTAGCTGGGTCTGCCAGAAGGAGTAGGGGCCGGCTCCCTGCTAATACGGGCTCTCAGAAGGGGGACTGGTGAGGGGCGAGGGATCGAGGCCCAAAGGGAGGTGGGTGGGATGGAGCAGAAAACCCACCAGACTGAACATCAAGGCACCTGCGGTCTGGACTGATCTCCGTCCAGTCCAGCCAACATGCTGTGTGTCTTTGGGTGATTTCTGGCCCTCTCCAGGCCTCAGTTTC | CA2697558960 | ClinVar | ||
| 11 | g.116836159_116836177del | CA2616112075 | APOA1,APOA1-AS | c.436_454del (p.Leu146ArgfsTer14) c.370_388del (p.Leu124ArgfsTer14) n.43_61del c.109_127del (p.Leu37ArgfsTer14) | gnomAD v4 |
| 11 | g.116836161G>A | CA382715741 | APOA1,APOA1-AS | c.451C>T (p.Gln151Ter) c.385C>T (p.Gln129Ter) n.45G>A c.124C>T (p.Gln42Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116836161G>C | CA382715752 | APOA1,APOA1-AS | c.451C>G (p.Gln151Glu) c.385C>G (p.Gln129Glu) n.45G>C c.124C>G (p.Gln42Glu) | |
| 11 | g.116836161G= | CA2002761934 | APOA1,APOA1-AS | c.451C= (p.Gln151=) c.385C= (p.Gln129=) n.45G= c.124C= (p.Gln42=) | |
| 11 | g.116836161G>T | CA382715755 | APOA1,APOA1-AS | c.451C>A (p.Gln151Lys) c.385C>A (p.Gln129Lys) n.45G>T c.124C>A (p.Gln42Lys) | |
| 11 | g.116836162G>A | CA477048761 | APOA1,APOA1-AS | c.450C>T (p.Leu150=) c.384C>T (p.Leu128=) n.46G>A c.123C>T (p.Leu41=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116836162G>C | CA477048762 | APOA1,APOA1-AS | c.450C>G (p.Leu150=) c.384C>G (p.Leu128=) n.46G>C c.123C>G (p.Leu41=) | dbSNP gnomAD v2 |
| 11 | g.116836162G= | CA2002761935 | APOA1,APOA1-AS | c.450C= (p.Leu150=) c.384C= (p.Leu128=) n.46G= c.123C= (p.Leu41=) | |
| 11 | g.116836162G>T | CA477048763 | APOA1,APOA1-AS | c.450C>A (p.Leu150=) c.384C>A (p.Leu128=) n.46G>T c.123C>A (p.Leu41=) | |
| 11 | g.116836163A= | CA2002761936 | APOA1,APOA1-AS | c.449T= (p.Leu150=) c.383T= (p.Leu128=) n.47A= c.122T= (p.Leu41=) | |
| 11 | g.116836163A>C | CA382715759 | APOA1,APOA1-AS | c.449T>G (p.Leu150Arg) c.383T>G (p.Leu128Arg) n.47A>C c.122T>G (p.Leu41Arg) | dbSNP gnomAD v4 |
| 11 | g.116836163A>G | CA382715763 | APOA1,APOA1-AS | c.449T>C (p.Leu150Pro) c.383T>C (p.Leu128Pro) n.47A>G c.122T>C (p.Leu41Pro) | |
| 11 | g.116836163A>T | CA382715760 | APOA1,APOA1-AS | c.449T>A (p.Leu150His) c.383T>A (p.Leu128His) n.47A>T c.122T>A (p.Leu41His) | |
| 11 | g.116836164G>A | CA382715766 | APOA1,APOA1-AS | c.448C>T (p.Leu150Phe) c.382C>T (p.Leu128Phe) n.48G>A c.121C>T (p.Leu41Phe) | |
| 11 | g.116836164G>C | CA382715768 | APOA1,APOA1-AS | c.448C>G (p.Leu150Val) c.382C>G (p.Leu128Val) n.48G>C c.121C>G (p.Leu41Val) | |
| 11 | g.116836164G= | CA2002761937 | APOA1,APOA1-AS | c.448C= (p.Leu150=) c.382C= (p.Leu128=) n.48G= c.121C= (p.Leu41=) | |
| 11 | g.116836164G>T | CA229324297 | APOA1,APOA1-AS | c.448C>A (p.Leu150Ile) c.382C>A (p.Leu128Ile) n.48G>T c.121C>A (p.Leu41Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116836165C>A | CA382715778 | APOA1,APOA1-AS | c.447G>T (p.Glu149Asp) c.381G>T (p.Glu127Asp) n.49C>A c.120G>T (p.Glu40Asp) | gnomAD v4 |
| 11 | g.116836165C= | CA2002761938 | APOA1,APOA1-AS | c.447G= (p.Glu149=) c.381G= (p.Glu127=) n.49C= c.120G= (p.Glu40=) | |
| 11 | g.116836165C>G | CA382715779 | APOA1,APOA1-AS | c.447G>C (p.Glu149Asp) c.381G>C (p.Glu127Asp) n.49C>G c.120G>C (p.Glu40Asp) | |
| 11 | g.116836165C>T | CA477048765 | APOA1,APOA1-AS | c.447G>A (p.Glu149=) c.381G>A (p.Glu127=) n.49C>T c.120G>A (p.Glu40=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.116836166T>A | CA382715780 | APOA1,APOA1-AS | c.446A>T (p.Glu149Val) c.380A>T (p.Glu127Val) n.50T>A c.119A>T (p.Glu40Val) | |
| 11 | g.116836166T>C | CA382715781 | APOA1,APOA1-AS | c.446A>G (p.Glu149Gly) c.380A>G (p.Glu127Gly) n.50T>C c.119A>G (p.Glu40Gly) | |
| 11 | g.116836166T>G | CA382715782 | APOA1,APOA1-AS | c.446A>C (p.Glu149Ala) c.380A>C (p.Glu127Ala) n.50T>G c.119A>C (p.Glu40Ala) | |
| 11 | g.116836167C>A | CA382715783 | APOA1,APOA1-AS | c.445G>T (p.Glu149Ter) c.379G>T (p.Glu127Ter) n.51C>A c.118G>T (p.Glu40Ter) | |
| 11 | g.116836167C>G | CA382715784 | APOA1,APOA1-AS | c.445G>C (p.Glu149Gln) c.379G>C (p.Glu127Gln) n.51C>G c.118G>C (p.Glu40Gln) | |
| 11 | g.116836167C>T | CA382715786 | APOA1,APOA1-AS | c.445G>A (p.Glu149Lys) c.379G>A (p.Glu127Lys) n.51C>T c.118G>A (p.Glu40Lys) | |
| 11 | g.116836168T>A | CA477048771 | APOA1,APOA1-AS | c.444A>T (p.Ala148=) c.378A>T (p.Ala126=) n.52T>A c.117A>T (p.Ala39=) | |
| 11 | g.116836168T>C | CA477048772 | APOA1,APOA1-AS | c.444A>G (p.Ala148=) c.378A>G (p.Ala126=) n.52T>C c.117A>G (p.Ala39=) | |
| 11 | g.116836168T>G | CA477048770 | APOA1,APOA1-AS | c.444A>C (p.Ala148=) c.378A>C (p.Ala126=) n.52T>G c.117A>C (p.Ala39=) | dbSNP gnomAD v4 |
| 11 | g.116836168T= | CA2002761939 | APOA1,APOA1-AS | c.444A= (p.Ala148=) c.378A= (p.Ala126=) n.52T= c.117A= (p.Ala39=) | |
| 11 | g.116836169G>A | CA382715793 | APOA1,APOA1-AS | c.443C>T (p.Ala148Val) c.377C>T (p.Ala126Val) n.53G>A c.116C>T (p.Ala39Val) | |
| 11 | g.116836169G>C | CA382715790 | APOA1,APOA1-AS | c.443C>G (p.Ala148Gly) c.377C>G (p.Ala126Gly) n.53G>C c.116C>G (p.Ala39Gly) | gnomAD v4 |
| 11 | g.116836169G>T | CA382715789 | APOA1,APOA1-AS | c.443C>A (p.Ala148Glu) c.377C>A (p.Ala126Glu) n.53G>T c.116C>A (p.Ala39Glu) | |
| 11 | g.116836170C>A | CA382715797 | APOA1,APOA1-AS | c.442G>T (p.Ala148Ser) c.376G>T (p.Ala126Ser) n.54C>A c.115G>T (p.Ala39Ser) | gnomAD v4 |
| 11 | g.116836170C>G | CA382715799 | APOA1,APOA1-AS | c.442G>C (p.Ala148Pro) c.376G>C (p.Ala126Pro) n.54C>G c.115G>C (p.Ala39Pro) | |
| 11 | g.116836170C>T | CA382715801 | APOA1,APOA1-AS | c.442G>A (p.Ala148Thr) c.376G>A (p.Ala126Thr) n.54C>T c.115G>A (p.Ala39Thr) | |
| 11 | g.116836171G>A | CA477048777 | APOA1,APOA1-AS | c.441C>T (p.Arg147=) c.375C>T (p.Arg125=) n.55G>A c.114C>T (p.Arg38=) | |
| 11 | g.116836171G>C | CA477048778 | APOA1,APOA1-AS | c.441C>G (p.Arg147=) c.375C>G (p.Arg125=) n.55G>C c.114C>G (p.Arg38=) | |
| 11 | g.116836171G>T | CA477048779 | APOA1,APOA1-AS | c.441C>A (p.Arg147=) c.375C>A (p.Arg125=) n.55G>T c.114C>A (p.Arg38=) | gnomAD v4 |
| 11 | g.116836172C>A | CA382715804 | APOA1,APOA1-AS | c.440G>T (p.Arg147Leu) c.374G>T (p.Arg125Leu) n.56C>A c.113G>T (p.Arg38Leu) | |
| 11 | g.116836172C= | CA2002761940 | APOA1,APOA1-AS | c.440G= (p.Arg147=) c.374G= (p.Arg125=) n.56C= c.113G= (p.Arg38=) | |
| 11 | g.116836172C>G | CA382715809 | APOA1,APOA1-AS | c.440G>C (p.Arg147Pro) c.374G>C (p.Arg125Pro) n.56C>G c.113G>C (p.Arg38Pro) | gnomAD v4 |
| 11 | g.116836172C>T | CA229324305 | APOA1,APOA1-AS | c.440G>A (p.Arg147His) c.374G>A (p.Arg125His) n.56C>T c.113G>A (p.Arg38His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116836173G>A | CA382715812 | APOA1,APOA1-AS | c.439C>T (p.Arg147Cys) c.373C>T (p.Arg125Cys) n.57G>A c.112C>T (p.Arg38Cys) | |
| 11 | g.116836173G>C | CA382715813 | APOA1,APOA1-AS | c.439C>G (p.Arg147Gly) c.373C>G (p.Arg125Gly) n.57G>C c.112C>G (p.Arg38Gly) | dbSNP |
| 11 | g.116836173G= | CA2002761941 | APOA1,APOA1-AS | c.439C= (p.Arg147=) c.373C= (p.Arg125=) n.57G= c.112C= (p.Arg38=) | |
| 11 | g.116836173G>T | CA382715814 | APOA1,APOA1-AS | c.439C>A (p.Arg147Ser) c.373C>A (p.Arg125Ser) n.57G>T c.112C>A (p.Arg38Ser) | |
| 11 | g.116836175_116836177dup | CA2575000171 | APOA1,APOA1-AS | c.437_439dup (p.Leu146_Arg147insLeu) c.371_373dup (p.Leu124_Arg125insLeu) n.59_61dup c.110_112dup (p.Leu37_Arg38insLeu) | |
| 11 | g.116836174C>A | CA477048786 | APOA1,APOA1-AS | c.438G>T (p.Leu146=) c.372G>T (p.Leu124=) n.58C>A c.111G>T (p.Leu37=) | |
| 11 | g.116836174C>G | CA477048787 | APOA1,APOA1-AS | c.438G>C (p.Leu146=) c.372G>C (p.Leu124=) n.58C>G c.111G>C (p.Leu37=) | |
| 11 | g.116836174C>T | CA477048788 | APOA1,APOA1-AS | c.438G>A (p.Leu146=) c.372G>A (p.Leu124=) n.58C>T c.111G>A (p.Leu37=) | |
| 11 | g.116836175A>C | CA382715815 | APOA1,APOA1-AS | c.437T>G (p.Leu146Arg) c.371T>G (p.Leu124Arg) n.59A>C c.110T>G (p.Leu37Arg) | |
| 11 | g.116836175A>G | CA382715816 | APOA1,APOA1-AS | c.437T>C (p.Leu146Pro) c.371T>C (p.Leu124Pro) n.59A>G c.110T>C (p.Leu37Pro) | |
| 11 | g.116836175A>T | CA382715818 | APOA1,APOA1-AS | c.437T>A (p.Leu146Gln) c.371T>A (p.Leu124Gln) n.59A>T c.110T>A (p.Leu37Gln) | |
| 11 | g.116836176G>A | CA229324308 | APOA1,APOA1-AS | c.436C>T (p.Leu146=) c.370C>T (p.Leu124=) n.60G>A c.109C>T (p.Leu37=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116836176G>C | CA382715822 | APOA1,APOA1-AS | c.436C>G (p.Leu146Val) c.370C>G (p.Leu124Val) n.60G>C c.109C>G (p.Leu37Val) | |
| 11 | g.116836176G= | CA2002761942 | APOA1,APOA1-AS | c.436C= (p.Leu146=) c.370C= (p.Leu124=) n.60G= c.109C= (p.Leu37=) | |
| 11 | g.116836176G>T | CA382715819 | APOA1,APOA1-AS | c.436C>A (p.Leu146Met) c.370C>A (p.Leu124Met) n.60G>T c.109C>A (p.Leu37Met) | |
| 11 | g.116836177C>A | CA477048793 | APOA1,APOA1-AS | c.435G>T (p.Pro145=) c.369G>T (p.Pro123=) n.61C>A c.108G>T (p.Pro36=) | dbSNP gnomAD v4 |
| 11 | g.116836177C= | CA2002761943 | APOA1,APOA1-AS | c.435G= (p.Pro145=) c.369G= (p.Pro123=) n.61C= c.108G= (p.Pro36=) | |
| 11 | g.116836177C>G | CA6289806 | APOA1,APOA1-AS | c.435G>C (p.Pro145=) c.369G>C (p.Pro123=) n.61C>G c.108G>C (p.Pro36=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.116836177C>T | CA477048794 | APOA1,APOA1-AS | c.435G>A (p.Pro145=) c.369G>A (p.Pro123=) n.61C>T c.108G>A (p.Pro36=) | gnomAD v4 |
| 11 | g.116836178G>A | CA229324315 | APOA1,APOA1-AS | c.434C>T (p.Pro145Leu) c.368C>T (p.Pro123Leu) n.62G>A c.107C>T (p.Pro36Leu) | dbSNP gnomAD v4 |
| 11 | g.116836178G>C | CA382715832 | APOA1,APOA1-AS | c.434C>G (p.Pro145Arg) c.368C>G (p.Pro123Arg) n.62G>C c.107C>G (p.Pro36Arg) | |
| 11 | g.116836178G= | CA2002761944 | APOA1,APOA1-AS | c.434C= (p.Pro145=) c.368C= (p.Pro123=) n.62G= c.107C= (p.Pro36=) | |
| 11 | g.116836178G>T | CA382715833 | APOA1,APOA1-AS | c.434C>A (p.Pro145Gln) c.368C>A (p.Pro123Gln) n.62G>T c.107C>A (p.Pro36Gln) | gnomAD v4 |
| 11 | g.116836179G>A | CA382715837 | APOA1,APOA1-AS | c.433C>T (p.Pro145Ser) c.367C>T (p.Pro123Ser) n.63G>A c.106C>T (p.Pro36Ser) | |
| 11 | g.116836179G>C | CA382715839 | APOA1,APOA1-AS | c.433C>G (p.Pro145Ala) c.367C>G (p.Pro123Ala) n.63G>C c.106C>G (p.Pro36Ala) | dbSNP |
| 11 | g.116836179G= | CA2002761945 | APOA1,APOA1-AS | c.433C= (p.Pro145=) c.367C= (p.Pro123=) n.63G= c.106C= (p.Pro36=) | |
| 11 | g.116836179G>T | CA382715841 | APOA1,APOA1-AS | c.433C>A (p.Pro145Thr) c.367C>A (p.Pro123Thr) n.63G>T c.106C>A (p.Pro36Thr) | |
| 11 | g.116836180C>A | CA382715844 | APOA1,APOA1-AS | c.432G>T (p.Glu144Asp) c.366G>T (p.Glu122Asp) n.64C>A c.105G>T (p.Glu35Asp) | |
| 11 | g.116836180C>G | CA382715846 | APOA1,APOA1-AS | c.432G>C (p.Glu144Asp) c.366G>C (p.Glu122Asp) n.64C>G c.105G>C (p.Glu35Asp) | |
| 11 | g.116836180C>T | CA477048797 | APOA1,APOA1-AS | c.432G>A (p.Glu144=) c.366G>A (p.Glu122=) n.64C>T c.105G>A (p.Glu35=) | |
| 11 | g.116836181T>A | CA382715849 | APOA1,APOA1-AS | c.431A>T (p.Glu144Val) c.365A>T (p.Glu122Val) n.65T>A c.104A>T (p.Glu35Val) | |
| 11 | g.116836181T>C | CA382715851 | APOA1,APOA1-AS | c.431A>G (p.Glu144Gly) c.365A>G (p.Glu122Gly) n.65T>C c.104A>G (p.Glu35Gly) | gnomAD v4 |
| 11 | g.116836181T>G | CA382715854 | APOA1,APOA1-AS | c.431A>C (p.Glu144Ala) c.365A>C (p.Glu122Ala) n.65T>G c.104A>C (p.Glu35Ala) | dbSNP |
| 11 | g.116836181T= | CA2002761946 | APOA1,APOA1-AS | c.431A= (p.Glu144=) c.365A= (p.Glu122=) n.65T= c.104A= (p.Glu35=) | |
| 11 | g.116836182C>A | CA382715859 | APOA1,APOA1-AS | c.430G>T (p.Glu144Ter) c.364G>T (p.Glu122Ter) n.66C>A c.103G>T (p.Glu35Ter) | |
| 11 | g.116836182C= | CA2002761947 | APOA1,APOA1-AS | c.430G= (p.Glu144=) c.364G= (p.Glu122=) n.66C= c.103G= (p.Glu35=) | |
| 11 | g.116836182C>G | CA382715860 | APOA1,APOA1-AS | c.430G>C (p.Glu144Gln) c.364G>C (p.Glu122Gln) n.66C>G c.103G>C (p.Glu35Gln) | |
| 11 | g.116836182C>T | CA382715863 | APOA1,APOA1-AS | c.430G>A (p.Glu144Lys) c.364G>A (p.Glu122Lys) n.66C>T c.103G>A (p.Glu35Lys) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.116836183C>A | CA477048803 | APOA1,APOA1-AS | c.429G>T (p.Val143=) c.363G>T (p.Val121=) n.67C>A c.102G>T (p.Val34=) | |
| 11 | g.116836183C>G | CA477048804 | APOA1,APOA1-AS | c.429G>C (p.Val143=) c.363G>C (p.Val121=) n.67C>G c.102G>C (p.Val34=) | |
| 11 | g.116836183C>T | CA477048805 | APOA1,APOA1-AS | c.429G>A (p.Val143=) c.363G>A (p.Val121=) n.67C>T c.102G>A (p.Val34=) | gnomAD v4 |
| 11 | g.116836184A>C | CA382715876 | APOA1,APOA1-AS | c.428T>G (p.Val143Gly) c.362T>G (p.Val121Gly) n.68A>C c.101T>G (p.Val34Gly) | |
| 11 | g.116836184A>G | CA382715868 | APOA1,APOA1-AS | c.428T>C (p.Val143Ala) c.362T>C (p.Val121Ala) n.68A>G c.101T>C (p.Val34Ala) | |
| 11 | g.116836184A>T | CA382715866 | APOA1,APOA1-AS | c.428T>A (p.Val143Glu) c.362T>A (p.Val121Glu) n.68A>T c.101T>A (p.Val34Glu) | |
| 11 | g.116836184dup | CA2695215586 | APOA1,APOA1-AS | c.428dup (p.Glu144GlyfsTer?) c.362dup (p.Glu122GlyfsTer?) n.68dup c.101dup (p.Glu35GlyfsTer?) | |
| 11 | g.116836185C>A | CA382715877 | APOA1,APOA1-AS | c.427G>T (p.Val143Leu) c.361G>T (p.Val121Leu) n.69C>A c.100G>T (p.Val34Leu) | |
| 11 | g.116836185C>G | CA382715878 | APOA1,APOA1-AS | c.427G>C (p.Val143Leu) c.361G>C (p.Val121Leu) n.69C>G c.100G>C (p.Val34Leu) | |
| 11 | g.116836185C>T | CA382715879 | APOA1,APOA1-AS | c.427G>A (p.Val143Met) c.361G>A (p.Val121Met) n.69C>T c.100G>A (p.Val34Met) | |
| 11 | g.116836186C>A | CA382715881 | APOA1,APOA1-AS | c.426G>T (p.Lys142Asn) c.360G>T (p.Lys120Asn) n.70C>A c.99G>T (p.Lys33Asn) | |
| 11 | g.116836186C= | CA2002761948 | APOA1,APOA1-AS | c.426G= (p.Lys142=) c.360G= (p.Lys120=) n.70C= c.99G= (p.Lys33=) | |
| 11 | g.116836186C>G | CA382715884 | APOA1,APOA1-AS | c.426G>C (p.Lys142Asn) c.360G>C (p.Lys120Asn) n.70C>G c.99G>C (p.Lys33Asn) | |
| 11 | g.116836186C>T | CA477048812 | APOA1,APOA1-AS | c.426G>A (p.Lys142=) c.360G>A (p.Lys120=) n.70C>T c.99G>A (p.Lys33=) | dbSNP gnomAD v4 |
| 11 | g.116836187T>A | CA382715888 | APOA1,APOA1-AS | c.425A>T (p.Lys142Met) c.359A>T (p.Lys120Met) n.71T>A c.98A>T (p.Lys33Met) | dbSNP gnomAD v4 |
| 11 | g.116836187T>C | CA6289807 | APOA1,APOA1-AS | c.425A>G (p.Lys142Arg) c.359A>G (p.Lys120Arg) n.71T>C c.98A>G (p.Lys33Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116836187T>G | CA382715896 | APOA1,APOA1-AS | c.425A>C (p.Lys142Thr) c.359A>C (p.Lys120Thr) n.71T>G c.98A>C (p.Lys33Thr) | |
| 11 | g.116836187T= | CA2002761949 | APOA1,APOA1-AS | c.425A= (p.Lys142=) c.359A= (p.Lys120=) n.71T= c.98A= (p.Lys33=) | |
| 11 | g.116836188T>A | CA382715899 | APOA1,APOA1-AS | c.424A>T (p.Lys142Ter) c.358A>T (p.Lys120Ter) n.72T>A c.97A>T (p.Lys33Ter) | |
| 11 | g.116836188T>C | CA382715900 | APOA1,APOA1-AS | c.424A>G (p.Lys142Glu) c.358A>G (p.Lys120Glu) n.72T>C c.97A>G (p.Lys33Glu) | |
| 11 | g.116836188T>G | CA382715902 | APOA1,APOA1-AS | c.424A>C (p.Lys142Gln) c.358A>C (p.Lys120Gln) n.72T>G c.97A>C (p.Lys33Gln) | |
| 11 | g.116836189C>A | CA382715903 | APOA1,APOA1-AS | c.423G>T (p.Gln141His) c.357G>T (p.Gln119His) n.73C>A c.96G>T (p.Gln32His) | |
| 11 | g.116836189C>G | CA382715904 | APOA1,APOA1-AS | c.423G>C (p.Gln141His) c.357G>C (p.Gln119His) n.73C>G c.96G>C (p.Gln32His) | |
| 11 | g.116836189C>T | CA477048818 | APOA1,APOA1-AS | c.423G>A (p.Gln141=) c.357G>A (p.Gln119=) n.73C>T c.96G>A (p.Gln32=) | |
| 11 | g.116836190T>A | CA382715908 | APOA1,APOA1-AS | c.422A>T (p.Gln141Leu) c.356A>T (p.Gln119Leu) n.74T>A c.95A>T (p.Gln32Leu) | |
| 11 | g.116836190T>C | CA382715910 | APOA1,APOA1-AS | c.422A>G (p.Gln141Arg) c.356A>G (p.Gln119Arg) n.74T>C c.95A>G (p.Gln32Arg) | gnomAD v4 |
| 11 | g.116836190T>G | CA382715906 | APOA1,APOA1-AS | c.422A>C (p.Gln141Pro) c.356A>C (p.Gln119Pro) n.74T>G c.95A>C (p.Gln32Pro) | |
| 11 | g.116836191G>A | CA382715912 | APOA1,APOA1-AS | c.421C>T (p.Gln141Ter) c.355C>T (p.Gln119Ter) n.75G>A c.94C>T (p.Gln32Ter) | |
| 11 | g.116836191G>C | CA382715916 | APOA1,APOA1-AS | c.421C>G (p.Gln141Glu) c.355C>G (p.Gln119Glu) n.75G>C c.94C>G (p.Gln32Glu) | |
| 11 | g.116836191G>T | CA382715919 | APOA1,APOA1-AS | c.421C>A (p.Gln141Lys) c.355C>A (p.Gln119Lys) n.75G>T c.94C>A (p.Gln32Lys) | |
| 11 | g.116836192G>A | CA6289808 | APOA1,APOA1-AS | c.420C>T (p.Arg140=) c.354C>T (p.Arg118=) n.76G>A c.93C>T (p.Arg31=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116836192G>C | CA477048829 | APOA1,APOA1-AS | c.420C>G (p.Arg140=) c.354C>G (p.Arg118=) n.76G>C c.93C>G (p.Arg31=) | |
| 11 | g.116836192G= | CA2002761950 | APOA1,APOA1-AS | c.420C= (p.Arg140=) c.354C= (p.Arg118=) n.76G= c.93C= (p.Arg31=) | |
| 11 | g.116836192G>T | CA477048831 | APOA1,APOA1-AS | c.420C>A (p.Arg140=) c.354C>A (p.Arg118=) n.76G>T c.93C>A (p.Arg31=) | |
| 11 | g.116836193C>A | CA382715925 | APOA1,APOA1-AS | c.419G>T (p.Arg140Leu) c.353G>T (p.Arg118Leu) n.77C>A c.92G>T (p.Arg31Leu) | dbSNP |
| 11 | g.116836193C= | CA2002761951 | APOA1,APOA1-AS | c.419G= (p.Arg140=) c.353G= (p.Arg118=) n.77C= c.92G= (p.Arg31=) | |
| 11 | g.116836193C>G | CA382715926 | APOA1,APOA1-AS | c.419G>C (p.Arg140Pro) c.353G>C (p.Arg118Pro) n.77C>G c.92G>C (p.Arg31Pro) | |
| 11 | g.116836193C>T | CA382715929 | APOA1,APOA1-AS | c.419G>A (p.Arg140His) c.353G>A (p.Arg118His) n.77C>T c.92G>A (p.Arg31His) | dbSNP |
| 11 | g.116836194G>A | CA6289809 | APOA1,APOA1-AS | c.418C>T (p.Arg140Cys) c.352C>T (p.Arg118Cys) n.78G>A c.91C>T (p.Arg31Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116836194G>C | CA382715937 | APOA1,APOA1-AS | c.418C>G (p.Arg140Gly) c.352C>G (p.Arg118Gly) n.78G>C c.91C>G (p.Arg31Gly) | |
| 11 | g.116836194G= | CA2002761952 | APOA1,APOA1-AS | c.418C= (p.Arg140=) c.352C= (p.Arg118=) n.78G= c.91C= (p.Arg31=) | |
| 11 | g.116836194G>T | CA382715939 | APOA1,APOA1-AS | c.418C>A (p.Arg140Ser) c.352C>A (p.Arg118Ser) n.78G>T c.91C>A (p.Arg31Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116836195G>A | CA477048836 | APOA1,APOA1-AS | c.417C>T (p.Tyr139=) c.351C>T (p.Tyr117=) n.79G>A c.90C>T (p.Tyr30=) | |
| 11 | g.116836195G>C | CA382715942 | APOA1,APOA1-AS | c.417C>G (p.Tyr139Ter) c.351C>G (p.Tyr117Ter) n.79G>C c.90C>G (p.Tyr30Ter) | |
| 11 | g.116836195G= | CA2002761953 | APOA1,APOA1-AS | c.417C= (p.Tyr139=) c.351C= (p.Tyr117=) n.79G= c.90C= (p.Tyr30=) | |
| 11 | g.116836195G>T | CA6289810 | APOA1,APOA1-AS | c.417C>A (p.Tyr139Ter) c.351C>A (p.Tyr117Ter) n.79G>T c.90C>A (p.Tyr30Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116836196_116836198del | CA2616112111 | APOA1,APOA1-AS | c.415_417del (p.Tyr139del) c.349_351del (p.Tyr117del) n.80_82del c.88_90del (p.Tyr30del) | gnomAD v4 |
| 11 | g.116836196T>A | CA382715953 | APOA1,APOA1-AS | c.416A>T (p.Tyr139Phe) c.350A>T (p.Tyr117Phe) n.80T>A c.89A>T (p.Tyr30Phe) | |
| 11 | g.116836196T>C | CA382715951 | APOA1,APOA1-AS | c.416A>G (p.Tyr139Cys) c.350A>G (p.Tyr117Cys) n.80T>C c.89A>G (p.Tyr30Cys) | |
| 11 | g.116836196T>G | CA382715952 | APOA1,APOA1-AS | c.416A>C (p.Tyr139Ser) c.350A>C (p.Tyr117Ser) n.80T>G c.89A>C (p.Tyr30Ser) | dbSNP |
| 11 | g.116836196T= | CA2002761954 | APOA1,APOA1-AS | c.416A= (p.Tyr139=) c.350A= (p.Tyr117=) n.80T= c.89A= (p.Tyr30=) | |
| 11 | g.116836197A= | CA2002761955 | APOA1,APOA1-AS | c.415T= (p.Tyr139=) c.349T= (p.Tyr117=) n.81A= c.88T= (p.Tyr30=) | |
| 11 | g.116836197A>C | CA382715957 | APOA1,APOA1-AS | c.415T>G (p.Tyr139Asp) c.349T>G (p.Tyr117Asp) n.81A>C c.88T>G (p.Tyr30Asp) | |
| 11 | g.116836197A>G | CA382715960 | APOA1,APOA1-AS | c.415T>C (p.Tyr139His) c.349T>C (p.Tyr117His) n.81A>G c.88T>C (p.Tyr30His) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116836197A>T | CA382715962 | APOA1,APOA1-AS | c.415T>A (p.Tyr139Asn) c.349T>A (p.Tyr117Asn) n.81A>T c.88T>A (p.Tyr30Asn) | |
| 11 | g.116836198G>A | CA477048839 | APOA1,APOA1-AS | c.414C>T (p.Leu138=) c.348C>T (p.Leu116=) n.82G>A c.87C>T (p.Leu29=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116836198G>C | CA477048840 | APOA1,APOA1-AS | c.414C>G (p.Leu138=) c.348C>G (p.Leu116=) n.82G>C c.87C>G (p.Leu29=) | gnomAD v4 |
| 11 | g.116836198G= | CA2002761956 | APOA1,APOA1-AS | c.414C= (p.Leu138=) c.348C= (p.Leu116=) n.82G= c.87C= (p.Leu29=) | |
| 11 | g.116836198G>T | CA477048841 | APOA1,APOA1-AS | c.414C>A (p.Leu138=) c.348C>A (p.Leu116=) n.82G>T c.87C>A (p.Leu29=) | |
| 11 | g.116836199A>C | CA382715963 | APOA1,APOA1-AS | c.413T>G (p.Leu138Arg) c.347T>G (p.Leu116Arg) n.83A>C c.86T>G (p.Leu29Arg) | |
| 11 | g.116836199A>G | CA382715964 | APOA1,APOA1-AS | c.413T>C (p.Leu138Pro) c.347T>C (p.Leu116Pro) n.83A>G c.86T>C (p.Leu29Pro) | |
| 11 | g.116836199A>T | CA382715976 | APOA1,APOA1-AS | c.413T>A (p.Leu138His) c.347T>A (p.Leu116His) n.83A>T c.86T>A (p.Leu29His) | |
| 11 | g.116836200G>A | CA382715979 | APOA1,APOA1-AS | c.412C>T (p.Leu138Phe) c.346C>T (p.Leu116Phe) n.84G>A c.85C>T (p.Leu29Phe) | |
| 11 | g.116836200G>C | CA382715981 | APOA1,APOA1-AS | c.412C>G (p.Leu138Val) c.346C>G (p.Leu116Val) n.84G>C c.85C>G (p.Leu29Val) | gnomAD v4 |
| 11 | g.116836200G>T | CA382715983 | APOA1,APOA1-AS | c.412C>A (p.Leu138Ile) c.346C>A (p.Leu116Ile) n.84G>T c.85C>A (p.Leu29Ile) | |
| 11 | g.116836201C>A | CA382715985 | APOA1,APOA1-AS | c.411G>T (p.Glu137Asp) c.345G>T (p.Glu115Asp) n.85C>A c.84G>T (p.Glu28Asp) | |
| 11 | g.116836201C= | CA2002761957 | APOA1,APOA1-AS | c.411G= (p.Glu137=) c.345G= (p.Glu115=) n.85C= c.84G= (p.Glu28=) | |
| 11 | g.116836201C>G | CA382715986 | APOA1,APOA1-AS | c.411G>C (p.Glu137Asp) c.345G>C (p.Glu115Asp) n.85C>G c.84G>C (p.Glu28Asp) | |
| 11 | g.116836201C>T | CA229324342 | APOA1,APOA1-AS | c.411G>A (p.Glu137=) c.345G>A (p.Glu115=) n.85C>T c.84G>A (p.Glu28=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116836202T>A | CA382715999 | APOA1,APOA1-AS | c.410A>T (p.Glu137Val) c.344A>T (p.Glu115Val) n.86T>A c.83A>T (p.Glu28Val) | |
| 11 | g.116836202T>C | CA382715991 | APOA1,APOA1-AS | c.410A>G (p.Glu137Gly) c.344A>G (p.Glu115Gly) n.86T>C c.83A>G (p.Glu28Gly) | gnomAD v4 |
| 11 | g.116836202T>G | CA382715990 | APOA1,APOA1-AS | c.410A>C (p.Glu137Ala) c.344A>C (p.Glu115Ala) n.86T>G c.83A>C (p.Glu28Ala) | |
| 11 | g.116836203C>A | CA382716002 | APOA1,APOA1-AS | c.409G>T (p.Glu137Ter) c.343G>T (p.Glu115Ter) n.87C>A c.82G>T (p.Glu28Ter) | ClinVar gnomAD v4 |
| 11 | g.116836203C>G | CA382716003 | APOA1,APOA1-AS | c.409G>C (p.Glu137Gln) c.343G>C (p.Glu115Gln) n.87C>G c.82G>C (p.Glu28Gln) | gnomAD v4 COSMIC |
| 11 | g.116836203C>T | CA382716006 | APOA1,APOA1-AS | c.409G>A (p.Glu137Lys) c.343G>A (p.Glu115Lys) n.87C>T c.82G>A (p.Glu28Lys) | gnomAD v4 |
| 11 | g.116836204C>A | CA382716008 | APOA1,APOA1-AS | c.408G>T (p.Met136Ile) c.342G>T (p.Met114Ile) n.88C>A c.81G>T (p.Met27Ile) | |
| 11 | g.116836204C>G | CA382716010 | APOA1,APOA1-AS | c.408G>C (p.Met136Ile) c.342G>C (p.Met114Ile) n.88C>G c.81G>C (p.Met27Ile) | |
| 11 | g.116836204C>T | CA382716012 | APOA1,APOA1-AS | c.408G>A (p.Met136Ile) c.342G>A (p.Met114Ile) n.88C>T c.81G>A (p.Met27Ile) | |
| 11 | g.116836205A= | CA2002761958 | APOA1,APOA1-AS | c.407T= (p.Met136=) c.341T= (p.Met114=) n.89A= c.80T= (p.Met27=) | |
| 11 | g.116836205A>C | CA6289811 | APOA1,APOA1-AS | c.407T>G (p.Met136Arg) c.341T>G (p.Met114Arg) n.89A>C c.80T>G (p.Met27Arg) | dbSNP ExAC |
| 11 | g.116836205A>G | CA382716015 | APOA1,APOA1-AS | c.407T>C (p.Met136Thr) c.341T>C (p.Met114Thr) n.89A>G c.80T>C (p.Met27Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116836205A>T | CA382716017 | APOA1,APOA1-AS | c.407T>A (p.Met136Lys) c.341T>A (p.Met114Lys) n.89A>T c.80T>A (p.Met27Lys) | |
| 11 | g.116836206T>A | CA382716025 | APOA1,APOA1-AS | c.406A>T (p.Met136Leu) c.340A>T (p.Met114Leu) n.90T>A c.79A>T (p.Met27Leu) | |
| 11 | g.116836206T>C | CA382716027 | APOA1,APOA1-AS | c.406A>G (p.Met136Val) c.340A>G (p.Met114Val) n.90T>C c.79A>G (p.Met27Val) | dbSNP gnomAD v4 |
| 11 | g.116836206T>G | CA382716029 | APOA1,APOA1-AS | c.406A>C (p.Met136Leu) c.340A>C (p.Met114Leu) n.90T>G c.79A>C (p.Met27Leu) | |
| 11 | g.116836206T= | CA2002761959 | APOA1,APOA1-AS | c.406A= (p.Met136=) c.340A= (p.Met114=) n.90T= c.79A= (p.Met27=) | |
| 11 | g.116836206_116836209delinsTCTC | CA2002761960 | APOA1,APOA1-AS | c.403_406delinsGAGA (p.Glu135=) c.337_340delinsGAGA (p.Glu113=) n.90_93delinsTCTC c.76_79delinsGAGA (p.Glu26=) | |
| 11 | g.116836207C>A | CA382716032 | APOA1,APOA1-AS | c.405G>T (p.Glu135Asp) c.339G>T (p.Glu113Asp) n.91C>A c.78G>T (p.Glu26Asp) | dbSNP gnomAD v4 |
| 11 | g.116836207C= | CA2002761961 | APOA1,APOA1-AS | c.405G= (p.Glu135=) c.339G= (p.Glu113=) n.91C= c.78G= (p.Glu26=) | |
| 11 | g.116836207C>G | CA382716034 | APOA1,APOA1-AS | c.405G>C (p.Glu135Asp) c.339G>C (p.Glu113Asp) n.91C>G c.78G>C (p.Glu26Asp) | |
| 11 | g.116836207C>T | CA477048926 | APOA1,APOA1-AS | c.405G>A (p.Glu135=) c.339G>A (p.Glu113=) n.91C>T c.78G>A (p.Glu26=) | |
| 11 | g.116836212_116836214del | CA942609999 | APOA1,APOA1-AS | c.403_405del (p.Glu135del) c.337_339del (p.Glu113del) n.96_98del c.76_78del (p.Glu26del) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116836208T>A | CA382716039 | APOA1,APOA1-AS | c.404A>T (p.Glu135Val) c.338A>T (p.Glu113Val) n.92T>A c.77A>T (p.Glu26Val) | |
| 11 | g.116836208T>C | CA6289812 | APOA1,APOA1-AS | c.404A>G (p.Glu135Gly) c.338A>G (p.Glu113Gly) n.92T>C c.77A>G (p.Glu26Gly) | dbSNP ExAC gnomAD v2 |
| 11 | g.116836208T>G | CA382716037 | APOA1,APOA1-AS | c.404A>C (p.Glu135Ala) c.338A>C (p.Glu113Ala) n.92T>G c.77A>C (p.Glu26Ala) | gnomAD v4 |
| 11 | g.116836208T= | CA2002761962 | APOA1,APOA1-AS | c.404A= (p.Glu135=) c.338A= (p.Glu113=) n.92T= c.77A= (p.Glu26=) | |
| 11 | g.116836209C>A | CA382716043 | APOA1,APOA1-AS | c.403G>T (p.Glu135Ter) c.337G>T (p.Glu113Ter) n.93C>A c.76G>T (p.Glu26Ter) | |
| 11 | g.116836209C>G | CA382716044 | APOA1,APOA1-AS | c.403G>C (p.Glu135Gln) c.337G>C (p.Glu113Gln) n.93C>G c.76G>C (p.Glu26Gln) | |
| 11 | g.116836209C>T | CA382716048 | APOA1,APOA1-AS | c.403G>A (p.Glu135Lys) c.337G>A (p.Glu113Lys) n.93C>T c.76G>A (p.Glu26Lys) | |
| 11 | g.116836210C>A | CA382716050 | APOA1,APOA1-AS | c.402G>T (p.Glu134Asp) c.336G>T (p.Glu112Asp) n.94C>A c.75G>T (p.Glu25Asp) | |
| 11 | g.116836210C= | CA2002761963 | APOA1,APOA1-AS | c.402G= (p.Glu134=) c.336G= (p.Glu112=) n.94C= c.75G= (p.Glu25=) | |
| 11 | g.116836210C>G | CA382716051 | APOA1,APOA1-AS | c.402G>C (p.Glu134Asp) c.336G>C (p.Glu112Asp) n.94C>G c.75G>C (p.Glu25Asp) | |
| 11 | g.116836210C>T | CA229324364 | APOA1,APOA1-AS | c.402G>A (p.Glu134=) c.336G>A (p.Glu112=) n.94C>T c.75G>A (p.Glu25=) | dbSNP |
| 11 | g.116836211T>A | CA382716055 | APOA1,APOA1-AS | c.401A>T (p.Glu134Val) c.335A>T (p.Glu112Val) n.95T>A c.74A>T (p.Glu25Val) | |
| 11 | g.116836211T>C | CA6289813 | APOA1,APOA1-AS | c.401A>G (p.Glu134Gly) c.335A>G (p.Glu112Gly) n.95T>C c.74A>G (p.Glu25Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116836211T>G | CA382716060 | APOA1,APOA1-AS | c.401A>C (p.Glu134Ala) c.335A>C (p.Glu112Ala) n.95T>G c.74A>C (p.Glu25Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116836211T= | CA2002761964 | APOA1,APOA1-AS | c.401A= (p.Glu134=) c.335A= (p.Glu112=) n.95T= c.74A= (p.Glu25=) | |
| 11 | g.116836212C>A | CA382716061 | APOA1,APOA1-AS | c.400G>T (p.Glu134Ter) c.334G>T (p.Glu112Ter) n.96C>A c.73G>T (p.Glu25Ter) | gnomAD v4 |
| 11 | g.116836212C>G | CA382716064 | APOA1,APOA1-AS | c.400G>C (p.Glu134Gln) c.334G>C (p.Glu112Gln) n.96C>G c.73G>C (p.Glu25Gln) | |
| 11 | g.116836212C>T | CA382716072 | APOA1,APOA1-AS | c.400G>A (p.Glu134Lys) c.334G>A (p.Glu112Lys) n.96C>T c.73G>A (p.Glu25Lys) | |
| 11 | g.116836213C>A | CA382716073 | APOA1,APOA1-AS | c.399G>T (p.Gln133His) c.333G>T (p.Gln111His) n.97C>A c.72G>T (p.Gln24His) | |
| 11 | g.116836213C= | CA2002761965 | APOA1,APOA1-AS | c.399G= (p.Gln133=) c.333G= (p.Gln111=) n.97C= c.72G= (p.Gln24=) | |
| 11 | g.116836213C>G | CA382716076 | APOA1,APOA1-AS | c.399G>C (p.Gln133His) c.333G>C (p.Gln111His) n.97C>G c.72G>C (p.Gln24His) | |
| 11 | g.116836213C>T | CA477048932 | APOA1,APOA1-AS | c.399G>A (p.Gln133=) c.333G>A (p.Gln111=) n.97C>T c.72G>A (p.Gln24=) | dbSNP |
| 11 | g.116836214T>A | CA382716084 | APOA1,APOA1-AS | c.398A>T (p.Gln133Leu) c.332A>T (p.Gln111Leu) n.98T>A c.71A>T (p.Gln24Leu) | |
| 11 | g.116836214T>C | CA382716090 | APOA1,APOA1-AS | c.398A>G (p.Gln133Arg) c.332A>G (p.Gln111Arg) n.98T>C c.71A>G (p.Gln24Arg) | |
| 11 | g.116836214T>G | CA382716087 | APOA1,APOA1-AS | c.398A>C (p.Gln133Pro) c.332A>C (p.Gln111Pro) n.98T>G c.71A>C (p.Gln24Pro) | |
| 11 | g.116836215G>A | CA382716095 | APOA1,APOA1-AS | c.397C>T (p.Gln133Ter) c.331C>T (p.Gln111Ter) n.99G>A c.70C>T (p.Gln24Ter) | |
| 11 | g.116836215G>C | CA382716102 | APOA1,APOA1-AS | c.397C>G (p.Gln133Glu) c.331C>G (p.Gln111Glu) n.99G>C c.70C>G (p.Gln24Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116836215G= | CA2002761966 | APOA1,APOA1-AS | c.397C= (p.Gln133=) c.331C= (p.Gln111=) n.99G= c.70C= (p.Gln24=) | |
| 11 | g.116836215G>T | CA382716104 | APOA1,APOA1-AS | c.397C>A (p.Gln133Lys) c.331C>A (p.Gln111Lys) n.99G>T c.70C>A (p.Gln24Lys) | dbSNP |
| 11 | g.116836216C>A | CA382716106 | APOA1,APOA1-AS | c.396G>T (p.Trp132Cys) c.330G>T (p.Trp110Cys) n.100C>A c.69G>T (p.Trp23Cys) | |
| 11 | g.116836216C= | CA2002761967 | APOA1,APOA1-AS | c.396G= (p.Trp132=) c.330G= (p.Trp110=) n.100C= c.69G= (p.Trp23=) | |
| 11 | g.116836216C>G | CA382716108 | APOA1,APOA1-AS | c.396G>C (p.Trp132Cys) c.330G>C (p.Trp110Cys) n.100C>G c.69G>C (p.Trp23Cys) | dbSNP gnomAD v2 |
| 11 | g.116836216C>T | CA382716109 | APOA1,APOA1-AS | c.396G>A (p.Trp132Ter) c.330G>A (p.Trp110Ter) n.100C>T c.69G>A (p.Trp23Ter) | |
| 11 | g.116836217_116836219del | CA2616112114 | APOA1,APOA1-AS | c.394_396del (p.Trp132del) c.328_330del (p.Trp110del) n.101_103del c.67_69del (p.Trp23del) | gnomAD v4 |
| 11 | g.116836217C>A | CA382716111 | APOA1,APOA1-AS | c.395G>T (p.Trp132Leu) c.329G>T (p.Trp110Leu) n.101C>A c.68G>T (p.Trp23Leu) | dbSNP gnomAD v2 |
| 11 | g.116836217C= | CA2002761968 | APOA1,APOA1-AS | c.395G= (p.Trp132=) c.329G= (p.Trp110=) n.101C= c.68G= (p.Trp23=) | |
| 11 | g.116836217C>G | CA382716113 | APOA1,APOA1-AS | c.395G>C (p.Trp132Ser) c.329G>C (p.Trp110Ser) n.101C>G c.68G>C (p.Trp23Ser) | |
| 11 | g.116836217C>T | CA382716117 | APOA1,APOA1-AS | c.395G>A (p.Trp132Ter) c.329G>A (p.Trp110Ter) n.101C>T c.68G>A (p.Trp23Ter) | gnomAD v4 |
| 11 | g.116836218A>C | CA382716122 | APOA1,APOA1-AS | c.394T>G (p.Trp132Gly) c.328T>G (p.Trp110Gly) n.102A>C c.67T>G (p.Trp23Gly) | |
| 11 | g.116836218A>G | CA382716128 | APOA1,APOA1-AS | c.394T>C (p.Trp132Arg) c.328T>C (p.Trp110Arg) n.102A>G c.67T>C (p.Trp23Arg) | |
| 11 | g.116836218A>T | CA382716132 | APOA1,APOA1-AS | c.394T>A (p.Trp132Arg) c.328T>A (p.Trp110Arg) n.102A>T c.67T>A (p.Trp23Arg) | |
| 11 | g.116836218_116836221delinsACTT | CA2002761969 | APOA1,APOA1-AS | c.391_394delinsAAGT (p.Lys131=) c.325_328delinsAAGT (p.Lys109=) n.102_105delinsACTT c.64_67delinsAAGT (p.Lys22=) | |
| 11 | g.116836219C>A | CA382716147 | APOA1,APOA1-AS | c.393G>T (p.Lys131Asn) c.327G>T (p.Lys109Asn) n.103C>A c.66G>T (p.Lys22Asn) | |
| 11 | g.116836219C= | CA2002761970 | APOA1,APOA1-AS | c.393G= (p.Lys131=) c.327G= (p.Lys109=) n.103C= c.66G= (p.Lys22=) | |
| 11 | g.116836219C>G | CA382716141 | APOA1,APOA1-AS | c.393G>C (p.Lys131Asn) c.327G>C (p.Lys109Asn) n.103C>G c.66G>C (p.Lys22Asn) | gnomAD v4 |
| 11 | g.116836219C>T | CA477048939 | APOA1,APOA1-AS | c.393G>A (p.Lys131=) c.327G>A (p.Lys109=) n.103C>T c.66G>A (p.Lys22=) | dbSNP gnomAD v4 |
| 11 | g.116836224_116836226del | CA6289814 | APOA1,APOA1-AS | c.391_393del (p.Lys131del) c.325_327del (p.Lys109del) n.108_110del c.64_66del (p.Lys22del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.116836220T>A | CA229324382 | APOA1,APOA1-AS | c.392A>T (p.Lys131Met) c.326A>T (p.Lys109Met) n.104T>A c.65A>T (p.Lys22Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116836220T>C | CA382716151 | APOA1,APOA1-AS | c.392A>G (p.Lys131Arg) c.326A>G (p.Lys109Arg) n.104T>C c.65A>G (p.Lys22Arg) | gnomAD v4 |
| 11 | g.116836220T>G | CA382716155 | APOA1,APOA1-AS | c.392A>C (p.Lys131Thr) c.326A>C (p.Lys109Thr) n.104T>G c.65A>C (p.Lys22Thr) | gnomAD v4 |
| 11 | g.116836220T= | CA2002761971 | APOA1,APOA1-AS | c.392A= (p.Lys131=) c.326A= (p.Lys109=) n.104T= c.65A= (p.Lys22=) | |
| 11 | g.116836220_116836221delinsCA | CA2695215587 | APOA1,APOA1-AS | c.391_392delinsTG (p.Lys131Trp) c.325_326delinsTG (p.Lys109Trp) n.104_105delinsCA c.64_65delinsTG (p.Lys22Trp) | ClinVar |
| 11 | g.116836221dup | CA2616112115 | APOA1,APOA1-AS | c.392dup (p.Trp132ValfsTer?) c.326dup (p.Trp110ValfsTer?) n.105dup c.65dup (p.Trp23ValfsTer?) | gnomAD v4 |
| 11 | g.116836221T>A | CA127543 | APOA1,APOA1-AS | c.391A>T (p.Lys131Ter) c.325A>T (p.Lys109Ter) n.105T>A c.64A>T (p.Lys22Ter) | ClinVar dbSNP gnomAD v4 |
| 11 | g.116836221T>C | CA382716165 | APOA1,APOA1-AS | c.391A>G (p.Lys131Glu) c.325A>G (p.Lys109Glu) n.105T>C c.64A>G (p.Lys22Glu) | |
| 11 | g.116836221T>G | CA382716166 | APOA1,APOA1-AS | c.391A>C (p.Lys131Gln) c.325A>C (p.Lys109Gln) n.105T>G c.64A>C (p.Lys22Gln) | gnomAD v4 |
| 11 | g.116836221T= | CA2002761972 | APOA1,APOA1-AS | c.391A= (p.Lys131=) c.325A= (p.Lys109=) n.105T= c.64A= (p.Lys22=) | |
| 11 | g.116836222C>A | CA382716167 | APOA1,APOA1-AS | c.390G>T (p.Lys130Asn) c.324G>T (p.Lys108Asn) n.106C>A c.63G>T (p.Lys21Asn) | |
| 11 | g.116836222C= | CA2002761973 | APOA1,APOA1-AS | c.390G= (p.Lys130=) c.324G= (p.Lys108=) n.106C= c.63G= (p.Lys21=) | |
| 11 | g.116836222C>G | CA382716168 | APOA1,APOA1-AS | c.390G>C (p.Lys130Asn) c.324G>C (p.Lys108Asn) n.106C>G c.63G>C (p.Lys21Asn) | dbSNP gnomAD v4 |
| 11 | g.116836222C>T | CA477048942 | APOA1,APOA1-AS | c.390G>A (p.Lys130=) c.324G>A (p.Lys108=) n.106C>T c.63G>A (p.Lys21=) | |
| 11 | g.116836223T>A | CA382716172 | APOA1,APOA1-AS | c.389A>T (p.Lys130Met) c.323A>T (p.Lys108Met) n.107T>A c.62A>T (p.Lys21Met) | |
| 11 | g.116836223T>C | CA6289815 | APOA1,APOA1-AS | c.389A>G (p.Lys130Arg) c.323A>G (p.Lys108Arg) n.107T>C c.62A>G (p.Lys21Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116836223T>G | CA382716178 | APOA1,APOA1-AS | c.389A>C (p.Lys130Thr) c.323A>C (p.Lys108Thr) n.107T>G c.62A>C (p.Lys21Thr) | |
| 11 | g.116836223T= | CA2002761974 | APOA1,APOA1-AS | c.389A= (p.Lys130=) c.323A= (p.Lys108=) n.107T= c.62A= (p.Lys21=) | |
| 11 | g.116836224T>A | CA382716197 | APOA1,APOA1-AS | c.388A>T (p.Lys130Ter) c.322A>T (p.Lys108Ter) n.108T>A c.61A>T (p.Lys21Ter) | |
| 11 | g.116836224T>C | CA382716198 | APOA1,APOA1-AS | c.388A>G (p.Lys130Glu) c.322A>G (p.Lys108Glu) n.108T>C c.61A>G (p.Lys21Glu) | |
| 11 | g.116836224T>G | CA382716193 | APOA1,APOA1-AS | c.388A>C (p.Lys130Gln) c.322A>C (p.Lys108Gln) n.108T>G c.61A>C (p.Lys21Gln) | |
| 11 | g.116836225C>A | CA382716222 | APOA1,APOA1-AS | c.387G>T (p.Gln129His) c.321G>T (p.Gln107His) n.109C>A c.60G>T (p.Gln20His) | |
| 11 | g.116836225C= | CA2002761975 | APOA1,APOA1-AS | c.387G= (p.Gln129=) c.321G= (p.Gln107=) n.109C= c.60G= (p.Gln20=) | |
| 11 | g.116836225C>G | CA382716212 | APOA1,APOA1-AS | c.387G>C (p.Gln129His) c.321G>C (p.Gln107His) n.109C>G c.60G>C (p.Gln20His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116836225C>T | CA477048944 | APOA1,APOA1-AS | c.387G>A (p.Gln129=) c.321G>A (p.Gln107=) n.109C>T c.60G>A (p.Gln20=) | |
| 11 | g.116836226T>A | CA382716227 | APOA1,APOA1-AS | c.386A>T (p.Gln129Leu) c.320A>T (p.Gln107Leu) n.110T>A c.59A>T (p.Gln20Leu) | |
| 11 | g.116836226T>C | CA382716228 | APOA1,APOA1-AS | c.386A>G (p.Gln129Arg) c.320A>G (p.Gln107Arg) n.110T>C c.59A>G (p.Gln20Arg) | |
| 11 | g.116836226T>G | CA382716229 | APOA1,APOA1-AS | c.386A>C (p.Gln129Pro) c.320A>C (p.Gln107Pro) n.110T>G c.59A>C (p.Gln20Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116836226T= | CA2002761976 | APOA1,APOA1-AS | c.386A= (p.Gln129=) c.320A= (p.Gln107=) n.110T= c.59A= (p.Gln20=) | |
| 11 | g.116836227G>A | CA382716231 | APOA1,APOA1-AS | c.385C>T (p.Gln129Ter) c.319C>T (p.Gln107Ter) n.111G>A c.58C>T (p.Gln20Ter) | |
| 11 | g.116836227G>C | CA382716236 | APOA1,APOA1-AS | c.385C>G (p.Gln129Glu) c.319C>G (p.Gln107Glu) n.111G>C c.58C>G (p.Gln20Glu) | |
| 11 | g.116836227G>T | CA382716239 | APOA1,APOA1-AS | c.385C>A (p.Gln129Lys) c.319C>A (p.Gln107Lys) n.111G>T c.58C>A (p.Gln20Lys) | |
| 11 | g.116836228G>A | CA477048947 | APOA1,APOA1-AS | c.384C>T (p.Phe128=) c.318C>T (p.Phe106=) n.112G>A c.57C>T (p.Phe19=) | |
| 11 | g.116836228G>C | CA382716242 | APOA1,APOA1-AS | c.384C>G (p.Phe128Leu) c.318C>G (p.Phe106Leu) n.112G>C c.57C>G (p.Phe19Leu) | gnomAD v4 |
| 11 | g.116836228G>T | CA382716246 | APOA1,APOA1-AS | c.384C>A (p.Phe128Leu) c.318C>A (p.Phe106Leu) n.112G>T c.57C>A (p.Phe19Leu) | |
| 11 | g.116836229A>C | CA382716249 | APOA1,APOA1-AS | c.383T>G (p.Phe128Cys) c.317T>G (p.Phe106Cys) n.113A>C c.56T>G (p.Phe19Cys) | |
| 11 | g.116836229A>G | CA382716252 | APOA1,APOA1-AS | c.383T>C (p.Phe128Ser) c.317T>C (p.Phe106Ser) n.113A>G c.56T>C (p.Phe19Ser) | |
| 11 | g.116836229A>T | CA382716256 | APOA1,APOA1-AS | c.383T>A (p.Phe128Tyr) c.317T>A (p.Phe106Tyr) n.113A>T c.56T>A (p.Phe19Tyr) | |
| 11 | g.116836230A>C | CA382716260 | APOA1,APOA1-AS | c.382T>G (p.Phe128Val) c.316T>G (p.Phe106Val) n.114A>C c.55T>G (p.Phe19Val) | |
| 11 | g.116836230A>G | CA382716265 | APOA1,APOA1-AS | c.382T>C (p.Phe128Leu) c.316T>C (p.Phe106Leu) n.114A>G c.55T>C (p.Phe19Leu) | |
| 11 | g.116836230A>T | CA382716269 | APOA1,APOA1-AS | c.382T>A (p.Phe128Ile) c.316T>A (p.Phe106Ile) n.114A>T c.55T>A (p.Phe19Ile) | |
| 11 | g.116836231del | CA2616111618 | APOA1,APOA1-AS | c.381del (p.Phe128SerfsTer?) c.315del (p.Phe106SerfsTer?) n.115del c.54del (p.Phe19SerfsTer?) | gnomAD v4 |
| 11 | g.116836231G>A | CA477048954 | APOA1,APOA1-AS | c.381C>T (p.Asp127=) c.315C>T (p.Asp105=) n.115G>A c.54C>T (p.Asp18=) | |
| 11 | g.116836231G>C | CA382716276 | APOA1,APOA1-AS | c.381C>G (p.Asp127Glu) c.315C>G (p.Asp105Glu) n.115G>C c.54C>G (p.Asp18Glu) | |
| 11 | g.116836231G= | CA2002761977 | APOA1,APOA1-AS | c.381C= (p.Asp127=) c.315C= (p.Asp105=) n.115G= c.54C= (p.Asp18=) | |
| 11 | g.116836231G>T | CA382716273 | APOA1,APOA1-AS | c.381C>A (p.Asp127Glu) c.315C>A (p.Asp105Glu) n.115G>T c.54C>A (p.Asp18Glu) | dbSNP |
| 11 | g.116836232T>A | CA382716279 | APOA1,APOA1-AS | c.380A>T (p.Asp127Val) c.314A>T (p.Asp105Val) n.116T>A c.53A>T (p.Asp18Val) | |
| 11 | g.116836232T>C | CA382716281 | APOA1,APOA1-AS | c.380A>G (p.Asp127Gly) c.314A>G (p.Asp105Gly) n.116T>C c.53A>G (p.Asp18Gly) | |
| 11 | g.116836232T>G | CA382716282 | APOA1,APOA1-AS | c.380A>C (p.Asp127Ala) c.314A>C (p.Asp105Ala) n.116T>G c.53A>C (p.Asp18Ala) | |
| 11 | g.116836233C>A | CA382716283 | APOA1,APOA1-AS | c.379G>T (p.Asp127Tyr) c.313G>T (p.Asp105Tyr) n.117C>A c.52G>T (p.Asp18Tyr) | |
| 11 | g.116836233C= | CA2002761978 | APOA1,APOA1-AS | c.379G= (p.Asp127=) c.313G= (p.Asp105=) n.117C= c.52G= (p.Asp18=) | |
| 11 | g.116836233C>G | CA382716284 | APOA1,APOA1-AS | c.379G>C (p.Asp127His) c.313G>C (p.Asp105His) n.117C>G c.52G>C (p.Asp18His) | gnomAD v4 |
| 11 | g.116836233C>T | CA229324406 | APOA1,APOA1-AS | c.379G>A (p.Asp127Asn) c.313G>A (p.Asp105Asn) n.117C>T c.52G>A (p.Asp18Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116836234G>A | CA477048962 | APOA1,APOA1-AS | c.378C>T (p.Asp126=) c.312C>T (p.Asp104=) n.118G>A c.51C>T (p.Asp17=) | |
| 11 | g.116836234G>C | CA382716289 | APOA1,APOA1-AS | c.378C>G (p.Asp126Glu) c.312C>G (p.Asp104Glu) n.118G>C c.51C>G (p.Asp17Glu) | ClinVar gnomAD v4 |
| 11 | g.116836234G>T | CA382716291 | APOA1,APOA1-AS | c.378C>A (p.Asp126Glu) c.312C>A (p.Asp104Glu) n.118G>T c.51C>A (p.Asp17Glu) | |
| 11 | g.116836235T>A | CA382716296 | APOA1,APOA1-AS | c.377A>T (p.Asp126Val) c.311A>T (p.Asp104Val) n.119T>A c.50A>T (p.Asp17Val) | |
| 11 | g.116836235T>C | CA6289816 | APOA1,APOA1-AS | c.377A>G (p.Asp126Gly) c.311A>G (p.Asp104Gly) n.119T>C c.50A>G (p.Asp17Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116836235T>G | CA382716301 | APOA1,APOA1-AS | c.377A>C (p.Asp126Ala) c.311A>C (p.Asp104Ala) n.119T>G c.50A>C (p.Asp17Ala) | |
| 11 | g.116836235T= | CA2002761979 | APOA1,APOA1-AS | c.377A= (p.Asp126=) c.311A= (p.Asp104=) n.119T= c.50A= (p.Asp17=) | |
| 11 | g.116836236C>A | CA382716309 | APOA1,APOA1-AS | c.376G>T (p.Asp126Tyr) c.310G>T (p.Asp104Tyr) n.120C>A c.49G>T (p.Asp17Tyr) | |
| 11 | g.116836236C= | CA2002761980 | APOA1,APOA1-AS | c.376G= (p.Asp126=) c.310G= (p.Asp104=) n.120C= c.49G= (p.Asp17=) | |
| 11 | g.116836236C>G | CA229324417 | APOA1,APOA1-AS | c.376G>C (p.Asp126His) c.310G>C (p.Asp104His) n.120C>G c.49G>C (p.Asp17His) | dbSNP |
| 11 | g.116836236C>T | CA382716319 | APOA1,APOA1-AS | c.376G>A (p.Asp126Asn) c.310G>A (p.Asp104Asn) n.120C>T c.49G>A (p.Asp17Asn) | |
| 11 | g.116836237C>A | CA6289817 | APOA1,APOA1-AS | c.375G>T (p.Leu125=) c.309G>T (p.Leu103=) n.121C>A c.48G>T (p.Leu16=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116836237C= | CA2002761981 | APOA1,APOA1-AS | c.375G= (p.Leu125=) c.309G= (p.Leu103=) n.121C= c.48G= (p.Leu16=) | |
| 11 | g.116836237C>G | CA477048969 | APOA1,APOA1-AS | c.375G>C (p.Leu125=) c.309G>C (p.Leu103=) n.121C>G c.48G>C (p.Leu16=) | |
| 11 | g.116836237C>T | CA477048972 | APOA1,APOA1-AS | c.375G>A (p.Leu125=) c.309G>A (p.Leu103=) n.121C>T c.48G>A (p.Leu16=) | |
| 11 | g.116836238A>C | CA382716329 | APOA1,APOA1-AS | c.374T>G (p.Leu125Arg) c.308T>G (p.Leu103Arg) n.122A>C c.47T>G (p.Leu16Arg) | |
| 11 | g.116836238A>G | CA382716338 | APOA1,APOA1-AS | c.374T>C (p.Leu125Pro) c.308T>C (p.Leu103Pro) n.122A>G c.47T>C (p.Leu16Pro) | |
| 11 | g.116836238A>T | CA382716332 | APOA1,APOA1-AS | c.374T>A (p.Leu125Gln) c.308T>A (p.Leu103Gln) n.122A>T c.47T>A (p.Leu16Gln) | |
| 11 | g.116836239G>A | CA477048976 | APOA1,APOA1-AS | c.373C>T (p.Leu125=) c.307C>T (p.Leu103=) n.123G>A c.46C>T (p.Leu16=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116836239G>C | CA382716342 | APOA1,APOA1-AS | c.373C>G (p.Leu125Val) c.307C>G (p.Leu103Val) n.123G>C c.46C>G (p.Leu16Val) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116836239G= | CA2002761982 | APOA1,APOA1-AS | c.373C= (p.Leu125=) c.307C= (p.Leu103=) n.123G= c.46C= (p.Leu16=) | |
| 11 | g.116836239G>T | CA382716346 | APOA1,APOA1-AS | c.373C>A (p.Leu125Met) c.307C>A (p.Leu103Met) n.123G>T c.46C>A (p.Leu16Met) | |
| 11 | g.116836240G>A | CA477048983 | APOA1,APOA1-AS | c.372C>T (p.Tyr124=) c.306C>T (p.Tyr102=) n.123+1G>A c.45C>T (p.Tyr15=) | |
| 11 | g.116836240G>C | CA6289818 | APOA1,APOA1-AS | c.372C>G (p.Tyr124Ter) c.306C>G (p.Tyr102Ter) n.123+1G>C c.45C>G (p.Tyr15Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116836240G= | CA2002761983 | APOA1,APOA1-AS | c.372C= (p.Tyr124=) c.306C= (p.Tyr102=) n.123+1G= c.45C= (p.Tyr15=) | |
| 11 | g.116836240G>T | CA382716353 | APOA1,APOA1-AS | c.372C>A (p.Tyr124Ter) c.306C>A (p.Tyr102Ter) n.123+1G>T c.45C>A (p.Tyr15Ter) | |
| 11 | g.116836241T>A | CA382716360 | APOA1,APOA1-AS | c.371A>T (p.Tyr124Phe) c.305A>T (p.Tyr102Phe) n.123+2T>A c.44A>T (p.Tyr15Phe) | |
| 11 | g.116836241T>C | CA382716364 | APOA1,APOA1-AS | c.371A>G (p.Tyr124Cys) c.305A>G (p.Tyr102Cys) n.123+2T>C c.44A>G (p.Tyr15Cys) | |
| 11 | g.116836241T>G | CA382716365 | APOA1,APOA1-AS | c.371A>C (p.Tyr124Ser) c.305A>C (p.Tyr102Ser) n.123+2T>G c.44A>C (p.Tyr15Ser) | |
| 11 | g.116836242A>C | CA382716368 | APOA1,APOA1-AS | c.370T>G (p.Tyr124Asp) c.304T>G (p.Tyr102Asp) n.123+3A>C c.43T>G (p.Tyr15Asp) | |
| 11 | g.116836242A>G | CA382716371 | APOA1,APOA1-AS | c.370T>C (p.Tyr124His) c.304T>C (p.Tyr102His) n.123+3A>G c.43T>C (p.Tyr15His) | |
| 11 | g.116836242A>T | CA382716374 | APOA1,APOA1-AS | c.370T>A (p.Tyr124Asn) c.304T>A (p.Tyr102Asn) n.123+3A>T c.43T>A (p.Tyr15Asn) | |
| 11 | g.116836243G>A | CA477048994 | APOA1,APOA1-AS | c.369C>T (p.Pro123=) c.303C>T (p.Pro101=) n.123+4G>A c.42C>T (p.Pro14=) | |
| 11 | g.116836243G>C | CA477048996 | APOA1,APOA1-AS | c.369C>G (p.Pro123=) c.303C>G (p.Pro101=) n.123+4G>C c.42C>G (p.Pro14=) | dbSNP gnomAD v2 |
| 11 | g.116836243G= | CA2002761984 | APOA1,APOA1-AS | c.369C= (p.Pro123=) c.303C= (p.Pro101=) n.123+4G= c.42C= (p.Pro14=) | |
| 11 | g.116836243G>T | CA477048998 | APOA1,APOA1-AS | c.369C>A (p.Pro123=) c.303C>A (p.Pro101=) n.123+4G>T c.42C>A (p.Pro14=) | dbSNP gnomAD v4 |
| 11 | g.116836244G>A | CA382716376 | APOA1,APOA1-AS | c.368C>T (p.Pro123Leu) c.302C>T (p.Pro101Leu) n.123+5G>A c.41C>T (p.Pro14Leu) | |
| 11 | g.116836244G>C | CA382716380 | APOA1,APOA1-AS | c.368C>G (p.Pro123Arg) c.302C>G (p.Pro101Arg) n.123+5G>C c.41C>G (p.Pro14Arg) | |
| 11 | g.116836244G>T | CA382716385 | APOA1,APOA1-AS | c.368C>A (p.Pro123His) c.302C>A (p.Pro101His) n.123+5G>T c.41C>A (p.Pro14His) | |
| 11 | g.116836245G>A | CA382716394 | APOA1,APOA1-AS | c.367C>T (p.Pro123Ser) c.301C>T (p.Pro101Ser) n.123+6G>A c.40C>T (p.Pro14Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116836245G>C | CA382716390 | APOA1,APOA1-AS | c.367C>G (p.Pro123Ala) c.301C>G (p.Pro101Ala) n.123+6G>C c.40C>G (p.Pro14Ala) | |
| 11 | g.116836245G= | CA2002761985 | APOA1,APOA1-AS | c.367C= (p.Pro123=) c.301C= (p.Pro101=) n.123+6G= c.40C= (p.Pro14=) | |
| 11 | g.116836245G>T | CA382716392 | APOA1,APOA1-AS | c.367C>A (p.Pro123Thr) c.301C>A (p.Pro101Thr) n.123+6G>T c.40C>A (p.Pro14Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116836246C>A | CA382716399 | APOA1,APOA1-AS | c.366G>T (p.Gln122His) c.300G>T (p.Gln100His) n.123+7C>A c.39G>T (p.Gln13His) | |
| 11 | g.116836246C>G | CA382716401 | APOA1,APOA1-AS | c.366G>C (p.Gln122His) c.300G>C (p.Gln100His) n.123+7C>G c.39G>C (p.Gln13His) | |
| 11 | g.116836246C>T | CA477049003 | APOA1,APOA1-AS | c.366G>A (p.Gln122=) c.300G>A (p.Gln100=) n.123+7C>T c.39G>A (p.Gln13=) | |
| 11 | g.116836247T>A | CA382716416 | APOA1,APOA1-AS | c.365A>T (p.Gln122Leu) c.299A>T (p.Gln100Leu) n.123+8T>A c.38A>T (p.Gln13Leu) | |
| 11 | g.116836247T>C | CA382716419 | APOA1,APOA1-AS | c.365A>G (p.Gln122Arg) c.299A>G (p.Gln100Arg) n.123+8T>C c.38A>G (p.Gln13Arg) | |
| 11 | g.116836247T>G | CA382716422 | APOA1,APOA1-AS | c.365A>C (p.Gln122Pro) c.299A>C (p.Gln100Pro) n.123+8T>G c.38A>C (p.Gln13Pro) | |
| 11 | g.116836248G>A | CA382716428 | APOA1,APOA1-AS | c.364C>T (p.Gln122Ter) c.298C>T (p.Gln100Ter) n.123+9G>A c.37C>T (p.Gln13Ter) | ClinVar dbSNP |
| 11 | g.116836248G>C | CA382716430 | APOA1,APOA1-AS | c.364C>G (p.Gln122Glu) c.298C>G (p.Gln100Glu) n.123+9G>C c.37C>G (p.Gln13Glu) | |
| 11 | g.116836248G>T | CA382716433 | APOA1,APOA1-AS | c.364C>A (p.Gln122Lys) c.298C>A (p.Gln100Lys) n.123+9G>T c.37C>A (p.Gln13Lys) | |
| 11 | g.116836249C>A | CA477049006 | APOA1,APOA1-AS | c.363G>T (p.Val121=) c.297G>T (p.Val99=) n.123+10C>A c.36G>T (p.Val12=) | |
| 11 | g.116836249C= | CA2002761986 | APOA1,APOA1-AS | c.363G= (p.Val121=) c.297G= (p.Val99=) n.123+10C= c.36G= (p.Val12=) | |
| 11 | g.116836249C>G | CA477049007 | APOA1,APOA1-AS | c.363G>C (p.Val121=) c.297G>C (p.Val99=) n.123+10C>G c.36G>C (p.Val12=) | |
| 11 | g.116836249C>T | CA6289819 | APOA1,APOA1-AS | c.363G>A (p.Val121=) c.297G>A (p.Val99=) n.123+10C>T c.36G>A (p.Val12=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116836250A= | CA2002761987 | APOA1,APOA1-AS | c.362T= (p.Val121=) c.296T= (p.Val99=) n.123+11A= c.35T= (p.Val12=) | |
| 11 | g.116836250A>C | CA382716442 | APOA1,APOA1-AS | c.362T>G (p.Val121Gly) c.296T>G (p.Val99Gly) n.123+11A>C c.35T>G (p.Val12Gly) | |
| 11 | g.116836250A>G | CA6289820 | APOA1,APOA1-AS | c.362T>C (p.Val121Ala) c.296T>C (p.Val99Ala) n.123+11A>G c.35T>C (p.Val12Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116836250A>T | CA382716446 | APOA1,APOA1-AS | c.362T>A (p.Val121Glu) c.296T>A (p.Val99Glu) n.123+11A>T c.35T>A (p.Val12Glu) | |
| 11 | g.116836251C>A | CA382716447 | APOA1,APOA1-AS | c.361G>T (p.Val121Leu) c.295G>T (p.Val99Leu) n.123+12C>A c.34G>T (p.Val12Leu) | |
| 11 | g.116836251C>G | CA382716451 | APOA1,APOA1-AS | c.361G>C (p.Val121Leu) c.295G>C (p.Val99Leu) n.123+12C>G c.34G>C (p.Val12Leu) | |
| 11 | g.116836251C>T | CA382716448 | APOA1,APOA1-AS | c.361G>A (p.Val121Met) c.295G>A (p.Val99Met) n.123+12C>T c.34G>A (p.Val12Met) | gnomAD v4 |
| 11 | g.116836252C>A | CA382716454 | APOA1,APOA1-AS | c.360G>T (p.Lys120Asn) c.294G>T (p.Lys98Asn) n.123+13C>A c.33G>T (p.Lys11Asn) | |
| 11 | g.116836252C>G | CA382716457 | APOA1,APOA1-AS | c.360G>C (p.Lys120Asn) c.294G>C (p.Lys98Asn) n.123+13C>G c.33G>C (p.Lys11Asn) | |
| 11 | g.116836252C>T | CA477049017 | APOA1,APOA1-AS | c.360G>A (p.Lys120=) c.294G>A (p.Lys98=) n.123+13C>T c.33G>A (p.Lys11=) | |
| 11 | g.116836253T>A | CA382716463 | APOA1,APOA1-AS | c.359A>T (p.Lys120Met) c.293A>T (p.Lys98Met) n.123+14T>A c.32A>T (p.Lys11Met) | |
| 11 | g.116836253T>C | CA382716469 | APOA1,APOA1-AS | c.359A>G (p.Lys120Arg) c.293A>G (p.Lys98Arg) n.123+14T>C c.32A>G (p.Lys11Arg) | gnomAD v4 |
| 11 | g.116836253T>G | CA382716472 | APOA1,APOA1-AS | c.359A>C (p.Lys120Thr) c.293A>C (p.Lys98Thr) n.123+14T>G c.32A>C (p.Lys11Thr) | |
| 11 | g.116836254T>A | CA382716476 | APOA1,APOA1-AS | c.358A>T (p.Lys120Ter) c.292A>T (p.Lys98Ter) n.123+15T>A c.31A>T (p.Lys11Ter) | |
| 11 | g.116836254T>C | CA382716478 | APOA1,APOA1-AS | c.358A>G (p.Lys120Glu) c.292A>G (p.Lys98Glu) n.123+15T>C c.31A>G (p.Lys11Glu) | |
| 11 | g.116836254T>G | CA382716482 | APOA1,APOA1-AS | c.358A>C (p.Lys120Gln) c.292A>C (p.Lys98Gln) n.123+15T>G c.31A>C (p.Lys11Gln) | |
| 11 | g.116836254_116836257delinsTGGC | CA2002761988 | APOA1,APOA1-AS | c.355_358delinsGCCA (p.Ala119=) c.289_292delinsGCCA (p.Ala97=) n.123+15_123+18delinsTGGC c.28_31delinsGCCA (p.Ala10=) | |
| 11 | g.116836255G>A | CA477049025 | APOA1,APOA1-AS | c.357C>T (p.Ala119=) c.291C>T (p.Ala97=) n.123+16G>A c.30C>T (p.Ala10=) | |
| 11 | g.116836255G>C | CA477049026 | APOA1,APOA1-AS | c.357C>G (p.Ala119=) c.291C>G (p.Ala97=) n.123+16G>C c.30C>G (p.Ala10=) | |
| 11 | g.116836255G= | CA2002761989 | APOA1,APOA1-AS | c.357C= (p.Ala119=) c.291C= (p.Ala97=) n.123+16G= c.30C= (p.Ala10=) | |
| 11 | g.116836255G>T | CA477049029 | APOA1,APOA1-AS | c.357C>A (p.Ala119=) c.291C>A (p.Ala97=) n.123+16G>T c.30C>A (p.Ala10=) | dbSNP gnomAD v4 |
| 11 | g.116836255_116836257del | CA918975672 | APOA1,APOA1-AS | c.355_357del (p.Ala119del) c.289_291del (p.Ala97del) n.123+16_123+18del c.28_30del (p.Ala10del) | dbSNP |
| 11 | g.116836256G>A | CA6289821 | APOA1,APOA1-AS | c.356C>T (p.Ala119Val) c.290C>T (p.Ala97Val) n.123+17G>A c.29C>T (p.Ala10Val) | dbSNP ExAC gnomAD v2 |
| 11 | g.116836256G>C | CA382716490 | APOA1,APOA1-AS | c.356C>G (p.Ala119Gly) c.290C>G (p.Ala97Gly) n.123+17G>C c.29C>G (p.Ala10Gly) | |
| 11 | g.116836256G= | CA2002761990 | APOA1,APOA1-AS | c.356C= (p.Ala119=) c.290C= (p.Ala97=) n.123+17G= c.29C= (p.Ala10=) | |
| 11 | g.116836256G>T | CA382716495 | APOA1,APOA1-AS | c.356C>A (p.Ala119Asp) c.290C>A (p.Ala97Asp) n.123+17G>T c.29C>A (p.Ala10Asp) | dbSNP gnomAD v4 |
| 11 | g.116836257C>A | CA382716509 | APOA1,APOA1-AS | c.355G>T (p.Ala119Ser) c.289G>T (p.Ala97Ser) n.123+18C>A c.28G>T (p.Ala10Ser) | ClinVar dbSNP |
| 11 | g.116836257C>G | CA382716512 | APOA1,APOA1-AS | c.355G>C (p.Ala119Pro) c.289G>C (p.Ala97Pro) n.123+18C>G c.28G>C (p.Ala10Pro) | |
| 11 | g.116836257C>T | CA382716518 | APOA1,APOA1-AS | c.355G>A (p.Ala119Thr) c.289G>A (p.Ala97Thr) n.123+18C>T c.28G>A (p.Ala10Thr) | |
| 11 | g.116836258C>A | CA382716523 | APOA1,APOA1-AS | c.354G>T (p.Lys118Asn) c.288G>T (p.Lys96Asn) n.123+19C>A c.27G>T (p.Lys9Asn) | |
| 11 | g.116836258C= | CA2002761991 | APOA1,APOA1-AS | c.354G= (p.Lys118=) c.288G= (p.Lys96=) n.123+19C= c.27G= (p.Lys9=) | |
| 11 | g.116836258C>G | CA382716521 | APOA1,APOA1-AS | c.354G>C (p.Lys118Asn) c.288G>C (p.Lys96Asn) n.123+19C>G c.27G>C (p.Lys9Asn) | |
| 11 | g.116836258C>T | CA477049037 | APOA1,APOA1-AS | c.354G>A (p.Lys118=) c.288G>A (p.Lys96=) n.123+19C>T c.27G>A (p.Lys9=) | |
| 11 | g.116836259T>A | CA382716527 | APOA1,APOA1-AS | c.353A>T (p.Lys118Met) c.287A>T (p.Lys96Met) n.123+20T>A c.26A>T (p.Lys9Met) | |
| 11 | g.116836259T>C | CA382716530 | APOA1,APOA1-AS | c.353A>G (p.Lys118Arg) c.287A>G (p.Lys96Arg) n.123+20T>C c.26A>G (p.Lys9Arg) | |
| 11 | g.116836259T>G | CA382716533 | APOA1,APOA1-AS | c.353A>C (p.Lys118Thr) c.287A>C (p.Lys96Thr) n.123+20T>G c.26A>C (p.Lys9Thr) | |
| 11 | g.116836259_116836260insGTT | CA918975674 | APOA1,APOA1-AS | c.353_354insACA (p.Lys118_Ala119insGln) c.287_288insACA (p.Lys96_Ala97insGln) n.123+20_123+21insGTT c.26_27insACA (p.Lys9_Ala10insGln) | dbSNP |
| 11 | g.116836260T>A | CA382716538 | APOA1,APOA1-AS | c.352A>T (p.Lys118Ter) c.286A>T (p.Lys96Ter) n.123+21T>A c.25A>T (p.Lys9Ter) | gnomAD v4 |
| 11 | g.116836260T>C | CA382716541 | APOA1,APOA1-AS | c.352A>G (p.Lys118Glu) c.286A>G (p.Lys96Glu) n.123+21T>C c.25A>G (p.Lys9Glu) | gnomAD v4 |
| 11 | g.116836260T>G | CA382716545 | APOA1,APOA1-AS | c.352A>C (p.Lys118Gln) c.286A>C (p.Lys96Gln) n.123+21T>G c.25A>C (p.Lys9Gln) | |
| 11 | g.116836261C>A | CA477049040 | APOA1,APOA1-AS | c.351G>T (p.Val117=) c.285G>T (p.Val95=) n.123+22C>A c.24G>T (p.Val8=) | |
| 11 | g.116836261C= | CA2002761992 | APOA1,APOA1-AS | c.351G= (p.Val117=) c.285G= (p.Val95=) n.123+22C= c.24G= (p.Val8=) | |
| 11 | g.116836261C>G | CA477049043 | APOA1,APOA1-AS | c.351G>C (p.Val117=) c.285G>C (p.Val95=) n.123+22C>G c.24G>C (p.Val8=) | |
| 11 | g.116836261C>T | CA229324428 | APOA1,APOA1-AS | c.351G>A (p.Val117=) c.285G>A (p.Val95=) n.123+22C>T c.24G>A (p.Val8=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |