Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.116830247_116836307delinsAGACAGAGGGCCTGAGGCAGGAGATGAGCAAGGATCTGGAGGAGGTGAAGGCCAAGGTGCAGCCCTACCTGGACGACTTCCAGAAGAAGTGGCAGGAGGAGATGGAGCTCTACCGCCAGAAGGTGGAGCCGCTGCGCGCAGAGCTCCAAGAGGGCGCGCGCCAGAAGCTGCACGAGCTGCAAGAGAAGCTGAGCCCACTGGGCGAGGAGATGCGCGACCGCGCGCGCGCCCATGTGGACGCGCTGCGCACGCATCTGGCCCCCTACAGCGACGAGCTGCGCCAGCGCTTGGCCGCGCGCCTTGAGGCTCTCAAGGAGAACGGCGGCGCCAGACTGGCCGAGTACCACGCCAAGGCCACCGAGCATCTGAGCACGCTCAGCGAGAAGGCCAAGCCCGCGCTCGAGGACCTCCGCCAAGGCCTGCTGCCCGTGCTGGAGAGCTTCAAGGTCAGCTTCCTGAGCGCTCTCGAGGAGTACACTAAGAAGCTCAACACCCAGTGAGGCGCCCGCCGCCGCCCCCCTTCCCGGTGCTCAGAATAAACGTTTCCAAAGTGGGAAGCAGCTTCTTTCTTTTGGGAGAATAGAGGGGGGTGCGGGGACATCCGGGGGAGCCCGGGTGGGGCCTTTGGCCCTGGAGCAGGGACTTCCTGCCGGATCTCAACAACTCCGTGCCCAGACTGGACGTCTTAGGGCCAAGATCGACGTTGGAGGACCTGCTGGACGCCTGGCTGCTTACGAGTGAGGGAGTAGAGTCTGCCTTAGCAAGGCTCAAGTAGAAAGGAAGTCACAGCGGACCAGGCAAAGCCACAGACAATCCAAGGCCAGGTGCCCTGAAAGGGGCTCAAACAAGGCCTGCAGCCCTGTCTGAGGCGGGCCAGGAAACAGGGTTGCTTTAGCTGGGAGCAGTGGGTTCCCCGTCCCCAGAGGTGTGTCCGTATAGAGCCTTCTCCAGCCCAGCCGCTGTCAGCGGGGCGGGACGGAGCGGGGCGGCCTCAGGGAGCCAGCCACTGGGATTGGGGTTTGGTCCCGGGTGCAAGTGAAGCGCTTGGAGTTTGCGCCTGTCCTCCTTTACTAATTCAAAAACCTCTCAAACAGACACTTCCCTTTTCTTCTCACAAGGCCAGTATCCCCCTCCCACTACTCCCATCCCGCCCAGAAACAGCCGCGGCTTCCTCAGGCACAGCAGTGGAAGCCAGTCCTCCACCCCCTGCGGCTCCATGCCATGCCACCCCCTCTTTCTGCCAGCCCTGGCAGAAGCTGGCCTGAGTAAGAAAATTCACCACCACCTCTTGCAGGTACATTTTTATTTCCAAGATGCTCTCATATCTGTGCTCTCACTGCATCCTCCCTTCCCCACATCCTGGCTAGATTGCCATCAGACGCAGAGCATGGATGAGGACACTGAAGCCTGGACCTGTGACGTCGCTTGCCCAGTGAACAGCAGGATGGGCTAGGCCGCGCTTTTTAGACCCTGCACCCCTGGCCATCCATGATTATTGAAAAGAGTGCGCGGGTCGGGTGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGTATCACTTCAGGCCAGGAGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATCAGCTGGGCATGGTGGCTTGCACCCGTAATCCCAGCTACTAGGAAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTCACAGTGAGCCGAAATCATGCCACTGCACTCCAGCCTGGGCGACGGAGCAAGACTCCAGCTAAAAAAAAAAAAAAAAAAAAAAGAGTGTGTGGCCTGGCACTCAAGTTCACATGGGTGTGCAGGCATGCCTGTGTATTCTCACATGACCTCCCTGCTCACGGTCCCTCCTTGCACTCATGTCTGAATGTCCCCGCGTGCACGCACATGGCTTCACAGATCTGGGCAGTGCCTTCCCTACCCTCTCTCTGCAGGGCCTTTTGCCCCCTCATGCAGGCCCCTGGATAATCGGCCCCATCCCCATGTCCCCATCTCCAGTGTATCTTAGCTACCCTAGGTAAAGGAGTGGGCTTTTTAGTTCCTAACCTTCCAGAGCTACAACAGCAGTCATCCAGCCAGGTCTGGGTGGGAACATTTTCTAGATACGGGTGCTGAGATCTCTCAGCCCAGAGAGAAGCCCTGGGGAATTTTCAGAGAGAAAGCAGTCTCCAGGTGGGGCTGGATGTACTGATGCCACTGAGATCTGTAAAGGAGTCCCTAACACCTGACATAGGAGTGACAAAACTGTTTTCTGCACCAACTGAGCAGAATACACGCAGCTGACCTGGGCTCAAGGTCTGGCCCTGCCACGTGCTGGCTCTGTGATGCTGGCCAAGTGCCTTCGCCTCTCCGGGCCACAGTTTTTTGATCTGAAGAGTGGAGCCCTACTCAAGCCATCTGCAGCTCTCGGGCTCTCTGACCTGACATCTTTCGGGTGGTGGGGACACAAAGGAAGCAGCCTCTATTGGGAGACCTTGTGCTTCTTTTTGGTCCCAGGACACTGCCCCCCACCACTCCAGTCCGGGTCCCAAGGGCCCAGTCAGCTCAACTGTAATCATGACAACATTGATCAAGCATCTTTACGTGCAGGTGCTGTGCCAAACGGTTCGAACGCTCTCTCATTTCAATCTCACGGCAAACCTACGGTGGAGGGGGTACGGTTGTATCCACTTTACATGTAAGAAACTGAGGCTGATATCAAGTGGTGGAGCCAAGAATAGTGCCTCGTTGCATCTTACTCCAACCTCTAGCCCATCCGGCCTCCTCCCTTCACGTGCGCCTAAGAGGGCTAGGGGGCCTGGATAGGGGAGGTCAGCTCCACAGTTTTGAGTAAACACACACAGTCTCAACTCTGATGACAACTTAAGTGCCAGGCATAGTGGCTGGCATGGGGCACACACTCAAGTCATGTTGTGCAGCACCTAACAGTTTATCAAAGTATCAGCAAACTTATTGTCCTGTTTGACCTTCCGCACAAAGCTGTCAAGGAAGGCAGGGTACGGAGGGTGATTCCTACCTTAGAGATGAAGAAACTGAGGCCCAGAGACTGCCCAGCTACCAGAAGGTGGATAGAGCGCTGGCCTCCATGCCTGCCTGACCTGGAGTCTGTCCAGTGCCCACCCACAGAACAGCCTCGGCCCTTTCCCATGCCCAGACACAGATGGCACACTTGCGACGGCCCACTCATAGCAGCTTCTTGTCCAGCTTTATTGGGAGGCCAGCATGCCTGGAGGGGGGCCAGGCATGAGGTGGGGTAGGAGAGCACTGAGAATACTGTCCCTTTTAAGCAACCTACAGGGGCAGCCCTGGAGATTGCAGGACCCAAGGAGCTCGCAGGATGGATAGGCAGGTGGACTTGGGGTATTGAGGTCTCAGGCAGCCACGGCTGAAGTTGGTCTGACCTCAGGGTCCAAATCCCAGAACTCAGAGAACTTGTCCTTAACGGTGCTCCAGTAGTCTTTCAGGGAACTGAAGCCATCGGTCACCCAGCCCCTAAATCAGTCAGGGGAAGCAACAGAGCAGGGCATGAGAACTCCTCTGTAGGCAACCATGGGACCCACACCCATGTCCCCACTGGACGACACCAGTCAGGACCACACCACCCTCTCAACTTCACTGGACGACAGCCCTGAGACCTCAGGCAGGAATCCCCCACAGCTGCCACCCTGGGAGAAGAGATATCCTTGCAGGAACCCCAGCACAAGTCAAACCCTGCCATCTCCAGGTCACCTCAGATGTTTATGCCCCTGGGCCTGAGGCACAAAGTGACAGGGTGGGGAGATGTGAAAGGTCAAGGCTGTCATTGTTTTCTGTGCAAACAGCACCGCCTGGAGTTGCACAACCTGGTGGCTCTGAGCAGGGTAGGACAGAGGGAGGCAGCCTCTCATTTGGAAAGTCATTGGAGGATTGATTAGTTGTGTGATCTGGGGCAGGTCACCTAATCGCTCTGAGCCTCAATTTTCTCATCTGCAAAGTGAGAAAATAACACCTACCCCAAAGCCGGTTCTGGGGACTAAGAATGTTTATGAACACCTCTGCTATGCCAGCTAATGCCAGTCAGGGTGAGGTGGAGAAGGGAGTAGGGGAGAGGAGAGTACTGATGGGCAGGGGCAGGATGGGAGAGGAAGGACACACTTCTGCTCACACTGGCCCCAGGTCTTAGAACAAAGCAGAAGCACTCACGGGCTTGAATTGGGTCAGGTGGGGCCTCCCAAGGCAAACCCCTAGCCCAGGGGTCCCCAACCCCCAAGTCATAGATAGGTACTGGTCCATGGACTGTTAGGAGCCGGGCTGCACAGCACGAAGTGAGTGGTGGGTGAGTGAGCAATACCGCCTGAGCTCCGCCTCCTGTCAGATCAAGTGGCCTTACATTCTCATAGGAGTGTGAACCCTATTGTGAACTGCACATGCCAGGGATCTAGGTGGAGGGCTCCTTATGAGAATCTAATGCCTGATGATCTGAGGTGGAACAGCTTCATCCCAAAACCATCCCCGCTGGCCCATGGAAAAATTGTCCACCACAAAACTGGTCCCTGGTGCCAAAAAGGCTGAGGACCACTGCTCTAGCCAGACCTTCAGAAAAGGAAAATGGGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCCCCTGAGGTCAGGAATTCAAGACCAACCTGGCCAACATGGTGAAACCCCATCTCTGCTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGGTTGAACCCGGGAGACGGAGGTTGCAGTGAGCCGAGATGGCACCACTGCACTCCAGCCTAGGTGACAGAGGGAGACTCCATTAAAAAAAAAAGAAGAAGAAAGAAAGAGAGAAAGGAAGAGAGGGAAAGAAAGAAAAAGGAAAGAAAGAAAGAAAGAGAAAGAAAGGAAAGAAAGAAAGAAAGGAAAGAAAGAAAGGAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAATAGAAAGAGAAAGAAAGGGAAAGGAAAGGAAAATGGAAATGAGGGCTAAAACGGCACGCCCTAGGACTGCTCCGGGGAGAAAGGAGGGACCTGGGAGGAATGCAGTCTCAACTCTGTCATCTCTCCCGCAGCAGCCTGACAAAGGCCCTGTGAGGAAAGAGGAGGCTGAAGAGGCACAGGCCCAGGGGAGGCTGGAGCACCTCCATTCCATTGTTGGGATCTCACCAGGGCAGGGGCGGGTGGGAATGGAGGCAGCTGGCAGGGGGGATGGGGAGGGAGGCCAGCGGGTGTACCTGGCCTGCTGGGCCACCTGGGACTCCTGCACGCTGCTCAGTGCATCCTTGGCGGTCTTGGTGGCGTGCTTCATGTAACCCTGCATGAAGCTGAGAAGGGAGGCATCCTCGGCCTCTGAAGCTCCTGAGGAAAGAGCAGGGCTGAGTGGGGTGGATCGGCCTCTGGACGAGCCCTGGGCTCCTGCTTGACCACCCATTGGGACTGGGATCCCCAAGTTGCCTCCACCCTGCCCCCAGCCCAGTCCCACCAAGTGCTTACGGGCAGAGGCCAGGAGCGCCAGGAGGGCAACAACAAGGAGTACCCGGGGCTGCATGGCACCTCTGTTCCTGCAAGGAAGTGTCCTGTGAGGGGCACCCCAGGTCCCCATGCCTCTGGACCCCTCCCTGGGGAGGTGGCGTGGCCCCTAAGGTAGAACCTTAGCTGGGTCTGCCAGAAGGAGTAGGGGCCGGCTCCCTGCTAATACGGGCTCTCAGAAGGGGGACTGGTGAGGGGCGAGGGATCGAGGCCCAAAGGGAGGTGGGTGGGATGGAGCAGAAAACCCACCAGACTGAACATCAAGGCACCTGCGGTCTGGACTGATCTCCGTCCAGTCCAGCCAACATGCTGTGTGTCTTTGGGTGATTTCTGGCCCTCTCCAGGCCTCAGTTTC | CA2697558960 | ClinVar | ||
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 |
11 | g.116836262A>C | CA382716569 | APOA1,APOA1-AS | c.350T>G (p.Val117Gly) c.284T>G (p.Val95Gly) n.123+23A>C c.23T>G (p.Val8Gly) | |
11 | g.116836262A>G | CA382716565 | APOA1,APOA1-AS | c.350T>C (p.Val117Ala) c.284T>C (p.Val95Ala) n.123+23A>G c.23T>C (p.Val8Ala) | |
11 | g.116836262A>T | CA382716566 | APOA1,APOA1-AS | c.350T>A (p.Val117Glu) c.284T>A (p.Val95Glu) n.123+23A>T c.23T>A (p.Val8Glu) | |
11 | g.116836263C>A | CA382716575 | APOA1,APOA1-AS | c.349G>T (p.Val117Leu) c.283G>T (p.Val95Leu) n.123+24C>A c.22G>T (p.Val8Leu) | |
11 | g.116836263C>G | CA382716578 | APOA1,APOA1-AS | c.349G>C (p.Val117Leu) c.283G>C (p.Val95Leu) n.123+24C>G c.22G>C (p.Val8Leu) | |
11 | g.116836263C>T | CA382716584 | APOA1,APOA1-AS | c.349G>A (p.Val117Met) c.283G>A (p.Val95Met) n.123+24C>T c.22G>A (p.Val8Met) | |
11 | g.116836264C>A | CA382716586 | APOA1,APOA1-AS | c.348G>T (p.Glu116Asp) c.282G>T (p.Glu94Asp) n.123+25C>A c.21G>T (p.Glu7Asp) | |
11 | g.116836264C= | CA2002761993 | APOA1,APOA1-AS | c.348G= (p.Glu116=) c.282G= (p.Glu94=) n.123+25C= c.21G= (p.Glu7=) | |
11 | g.116836264C>G | CA382716588 | APOA1,APOA1-AS | c.348G>C (p.Glu116Asp) c.282G>C (p.Glu94Asp) n.123+25C>G c.21G>C (p.Glu7Asp) | |
11 | g.116836264C>T | CA477049054 | APOA1,APOA1-AS | c.348G>A (p.Glu116=) c.282G>A (p.Glu94=) n.123+25C>T c.21G>A (p.Glu7=) | dbSNP |
11 | g.116836265T>A | CA382716590 | APOA1,APOA1-AS | c.347A>T (p.Glu116Val) c.281A>T (p.Glu94Val) n.123+26T>A c.20A>T (p.Glu7Val) | |
11 | g.116836265T>C | CA382716592 | APOA1,APOA1-AS | c.347A>G (p.Glu116Gly) c.281A>G (p.Glu94Gly) n.123+26T>C c.20A>G (p.Glu7Gly) | |
11 | g.116836265T>G | CA382716591 | APOA1,APOA1-AS | c.347A>C (p.Glu116Ala) c.281A>C (p.Glu94Ala) n.123+26T>G c.20A>C (p.Glu7Ala) | |
11 | g.116836266C>A | CA382716593 | APOA1,APOA1-AS | c.346G>T (p.Glu116Ter) c.280G>T (p.Glu94Ter) n.123+27C>A c.19G>T (p.Glu7Ter) | |
11 | g.116836266C>G | CA382716594 | APOA1,APOA1-AS | c.346G>C (p.Glu116Gln) c.280G>C (p.Glu94Gln) n.123+27C>G c.19G>C (p.Glu7Gln) | |
11 | g.116836266C>T | CA382716596 | APOA1,APOA1-AS | c.346G>A (p.Glu116Lys) c.280G>A (p.Glu94Lys) n.123+27C>T c.19G>A (p.Glu7Lys) | gnomAD v4 |
11 | g.116836267C>A | CA382716599 | APOA1,APOA1-AS | c.345G>T (p.Glu115Asp) c.279G>T (p.Glu93Asp) n.123+28C>A c.18G>T (p.Glu6Asp) | |
11 | g.116836267C>G | CA382716603 | APOA1,APOA1-AS | c.345G>C (p.Glu115Asp) c.279G>C (p.Glu93Asp) n.123+28C>G c.18G>C (p.Glu6Asp) | |
11 | g.116836267C>T | CA477049064 | APOA1,APOA1-AS | c.345G>A (p.Glu115=) c.279G>A (p.Glu93=) n.123+28C>T c.18G>A (p.Glu6=) | |
11 | g.116836268T>A | CA382716607 | APOA1,APOA1-AS | c.344A>T (p.Glu115Val) c.278A>T (p.Glu93Val) n.123+29T>A c.17A>T (p.Glu6Val) | |
11 | g.116836268T>C | CA382716610 | APOA1,APOA1-AS | c.344A>G (p.Glu115Gly) c.278A>G (p.Glu93Gly) n.123+29T>C c.17A>G (p.Glu6Gly) | |
11 | g.116836268T>G | CA382716612 | APOA1,APOA1-AS | c.344A>C (p.Glu115Ala) c.278A>C (p.Glu93Ala) n.123+29T>G c.17A>C (p.Glu6Ala) | |
11 | g.116836269C>A | CA382716620 | APOA1,APOA1-AS | c.343G>T (p.Glu115Ter) c.277G>T (p.Glu93Ter) n.123+30C>A c.16G>T (p.Glu6Ter) | |
11 | g.116836269C>G | CA382716625 | APOA1,APOA1-AS | c.343G>C (p.Glu115Gln) c.277G>C (p.Glu93Gln) n.123+30C>G c.16G>C (p.Glu6Gln) | |
11 | g.116836269C>T | CA382716628 | APOA1,APOA1-AS | c.343G>A (p.Glu115Lys) c.277G>A (p.Glu93Lys) n.123+30C>T c.16G>A (p.Glu6Lys) | |
11 | g.116836270C>A | CA477049071 | APOA1,APOA1-AS | c.342G>T (p.Leu114=) c.276G>T (p.Leu92=) n.123+31C>A c.15G>T (p.Leu5=) | |
11 | g.116836270C= | CA2002761994 | APOA1,APOA1-AS | c.342G= (p.Leu114=) c.276G= (p.Leu92=) n.123+31C= c.15G= (p.Leu5=) | |
11 | g.116836270C>G | CA477049074 | APOA1,APOA1-AS | c.342G>C (p.Leu114=) c.276G>C (p.Leu92=) n.123+31C>G c.15G>C (p.Leu5=) | |
11 | g.116836270C>T | CA477049077 | APOA1,APOA1-AS | c.342G>A (p.Leu114=) c.276G>A (p.Leu92=) n.123+31C>T c.15G>A (p.Leu5=) | dbSNP |
11 | g.116836271A= | CA2002761995 | APOA1,APOA1-AS | c.341T= (p.Leu114=) c.275T= (p.Leu92=) n.123+32A= c.14T= (p.Leu5=) | |
11 | g.116836271A>C | CA382716629 | APOA1,APOA1-AS | c.341T>G (p.Leu114Arg) c.275T>G (p.Leu92Arg) n.123+32A>C c.14T>G (p.Leu5Arg) | |
11 | g.116836271A>G | CA127583 | APOA1,APOA1-AS | c.341T>C (p.Leu114Pro) c.275T>C (p.Leu92Pro) n.123+32A>G c.14T>C (p.Leu5Pro) | ClinVar dbSNP |
11 | g.116836271A>T | CA382716631 | APOA1,APOA1-AS | c.341T>A (p.Leu114Gln) c.275T>A (p.Leu92Gln) n.123+32A>T c.14T>A (p.Leu5Gln) | |
11 | g.116836272G>A | CA477049088 | APOA1,APOA1-AS | c.340C>T (p.Leu114=) c.274C>T (p.Leu92=) n.123+33G>A c.13C>T (p.Leu5=) | |
11 | g.116836272G>C | CA382716639 | APOA1,APOA1-AS | c.340C>G (p.Leu114Val) c.274C>G (p.Leu92Val) n.123+33G>C c.13C>G (p.Leu5Val) | |
11 | g.116836272G>T | CA382716650 | APOA1,APOA1-AS | c.340C>A (p.Leu114Met) c.274C>A (p.Leu92Met) n.123+33G>T c.13C>A (p.Leu5Met) | |
11 | g.116836273A= | CA2002761996 | APOA1,APOA1-AS | c.339T= (p.Asp113=) c.273T= (p.Asp91=) n.123+34A= c.12T= (p.Asp4=) | |
11 | g.116836273A>C | CA6289822 | APOA1,APOA1-AS | c.339T>G (p.Asp113Glu) c.273T>G (p.Asp91Glu) n.123+34A>C c.12T>G (p.Asp4Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116836273A>G | CA6289823 | APOA1,APOA1-AS | c.339T>C (p.Asp113=) c.273T>C (p.Asp91=) n.123+34A>G c.12T>C (p.Asp4=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.116836273A>T | CA382716663 | APOA1,APOA1-AS | c.339T>A (p.Asp113Glu) c.273T>A (p.Asp91Glu) n.123+34A>T c.12T>A (p.Asp4Glu) | |
11 | g.116836274T>A | CA382716666 | APOA1,APOA1-AS | c.338A>T (p.Asp113Val) c.272A>T (p.Asp91Val) n.123+35T>A c.11A>T (p.Asp4Val) | |
11 | g.116836274T>C | CA382716669 | APOA1,APOA1-AS | c.338A>G (p.Asp113Gly) c.272A>G (p.Asp91Gly) n.123+35T>C c.11A>G (p.Asp4Gly) | |
11 | g.116836274T>G | CA382716671 | APOA1,APOA1-AS | c.338A>C (p.Asp113Ala) c.272A>C (p.Asp91Ala) n.123+35T>G c.11A>C (p.Asp4Ala) | |
11 | g.116836275C>A | CA382716674 | APOA1,APOA1-AS | c.337G>T (p.Asp113Tyr) c.271G>T (p.Asp91Tyr) n.123+36C>A c.10G>T (p.Asp4Tyr) | |
11 | g.116836275C>G | CA382716676 | APOA1,APOA1-AS | c.337G>C (p.Asp113His) c.271G>C (p.Asp91His) n.123+36C>G c.10G>C (p.Asp4His) | |
11 | g.116836275C>T | CA382716677 | APOA1,APOA1-AS | c.337G>A (p.Asp113Asn) c.271G>A (p.Asp91Asn) n.123+36C>T c.10G>A (p.Asp4Asn) | |
11 | g.116836276C>A | CA382716679 | APOA1,APOA1-AS | c.336G>T (p.Lys112Asn) c.270G>T (p.Lys90Asn) n.123+37C>A c.9G>T (p.Lys3Asn) | |
11 | g.116836276C>G | CA382716681 | APOA1,APOA1-AS | c.336G>C (p.Lys112Asn) c.270G>C (p.Lys90Asn) n.123+37C>G c.9G>C (p.Lys3Asn) | |
11 | g.116836276C>T | CA477049104 | APOA1,APOA1-AS | c.336G>A (p.Lys112=) c.270G>A (p.Lys90=) n.123+37C>T c.9G>A (p.Lys3=) | |
11 | g.116836277T>A | CA382716683 | APOA1,APOA1-AS | c.335A>T (p.Lys112Met) c.269A>T (p.Lys90Met) n.123+38T>A c.8A>T (p.Lys3Met) | |
11 | g.116836277T>C | CA382716687 | APOA1,APOA1-AS | c.335A>G (p.Lys112Arg) c.269A>G (p.Lys90Arg) n.123+38T>C c.8A>G (p.Lys3Arg) | |
11 | g.116836277T>G | CA382716685 | APOA1,APOA1-AS | c.335A>C (p.Lys112Thr) c.269A>C (p.Lys90Thr) n.123+38T>G c.8A>C (p.Lys3Thr) | |
11 | g.116836278T>A | CA382716689 | APOA1,APOA1-AS | c.334A>T (p.Lys112Ter) c.268A>T (p.Lys90Ter) n.123+39T>A c.7A>T (p.Lys3Ter) | |
11 | g.116836278T>C | CA382716698 | APOA1,APOA1-AS | c.334A>G (p.Lys112Glu) c.268A>G (p.Lys90Glu) n.123+39T>C c.7A>G (p.Lys3Glu) | |
11 | g.116836278T>G | CA382716697 | APOA1,APOA1-AS | c.334A>C (p.Lys112Gln) c.268A>C (p.Lys90Gln) n.123+39T>G c.7A>C (p.Lys3Gln) | |
11 | g.116836279G>A | CA477049117 | APOA1,APOA1-AS | c.333C>T (p.Ser111=) c.267C>T (p.Ser89=) n.123+40G>A c.6C>T (p.Ser2=) | COSMIC |
11 | g.116836279G>C | CA382716701 | APOA1,APOA1-AS | c.333C>G (p.Ser111Arg) c.267C>G (p.Ser89Arg) n.123+40G>C c.6C>G (p.Ser2Arg) | |
11 | g.116836279G>T | CA382716702 | APOA1,APOA1-AS | c.333C>A (p.Ser111Arg) c.267C>A (p.Ser89Arg) n.123+40G>T c.6C>A (p.Ser2Arg) | |
11 | g.116836280C>A | CA382716705 | APOA1,APOA1-AS | c.332G>T (p.Ser111Ile) c.266G>T (p.Ser89Ile) n.123+41C>A c.5G>T (p.Ser2Ile) | |
11 | g.116836280C= | CA2002761997 | APOA1,APOA1-AS | c.332G= (p.Ser111=) c.266G= (p.Ser89=) n.123+41C= c.5G= (p.Ser2=) | |
11 | g.116836280C>G | CA382716706 | APOA1,APOA1-AS | c.332G>C (p.Ser111Thr) c.266G>C (p.Ser89Thr) n.123+41C>G c.5G>C (p.Ser2Thr) | |
11 | g.116836280C>T | CA382716707 | APOA1,APOA1-AS | c.332G>A (p.Ser111Asn) c.266G>A (p.Ser89Asn) n.123+41C>T c.5G>A (p.Ser2Asn) | ClinVar dbSNP gnomAD v4 |
11 | g.116836281T>A | CA382716709 | APOA1,APOA1-AS | c.331A>T (p.Ser111Cys) c.265A>T (p.Ser89Cys) n.123+42T>A c.4A>T (p.Ser2Cys) | |
11 | g.116836281T>C | CA382716711 | APOA1,APOA1-AS | c.331A>G (p.Ser111Gly) c.265A>G (p.Ser89Gly) n.123+42T>C c.4A>G (p.Ser2Gly) | dbSNP gnomAD v4 |
11 | g.116836281T>G | CA382716713 | APOA1,APOA1-AS | c.331A>C (p.Ser111Arg) c.265A>C (p.Ser89Arg) n.123+42T>G c.4A>C (p.Ser2Arg) | |
11 | g.116836281T= | CA2002761998 | APOA1,APOA1-AS | c.331A= (p.Ser111=) c.265A= (p.Ser89=) n.123+42T= c.4A= (p.Ser2=) | |
11 | g.116836282C>A | CA382716715 | APOA1,APOA1-AS | c.330G>T (p.Met110Ile) c.264G>T (p.Met88Ile) n.123+43C>A c.3G>T (p.Met1Ile) | |
11 | g.116836282C= | CA2002761999 | APOA1,APOA1-AS | c.330G= (p.Met110=) c.264G= (p.Met88=) n.123+43C= c.3G= (p.Met1=) | |
11 | g.116836282C>G | CA6289824 | APOA1,APOA1-AS | c.330G>C (p.Met110Ile) c.264G>C (p.Met88Ile) n.123+43C>G c.3G>C (p.Met1Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
11 | g.116836282C>T | CA382716717 | APOA1,APOA1-AS | c.330G>A (p.Met110Ile) c.264G>A (p.Met88Ile) n.123+43C>T c.3G>A (p.Met1Ile) | dbSNP |
11 | g.116836283A>C | CA382716719 | APOA1,APOA1-AS | c.329T>G (p.Met110Arg) c.263T>G (p.Met88Arg) n.123+44A>C c.2T>G (p.Met1Arg) | |
11 | g.116836283A>G | CA382716721 | APOA1,APOA1-AS | c.329T>C (p.Met110Thr) c.263T>C (p.Met88Thr) n.123+44A>G c.2T>C (p.Met1Thr) | gnomAD v4 |
11 | g.116836283A>T | CA382716723 | APOA1,APOA1-AS | c.329T>A (p.Met110Lys) c.263T>A (p.Met88Lys) n.123+44A>T c.2T>A (p.Met1Lys) | |
11 | g.116836284T>A | CA382716725 | APOA1,APOA1-AS | c.328A>T (p.Met110Leu) c.262A>T (p.Met88Leu) n.123+45T>A c.1A>T (p.Met1Leu) | |
11 | g.116836284T>C | CA382716729 | APOA1,APOA1-AS | c.328A>G (p.Met110Val) c.262A>G (p.Met88Val) n.123+45T>C c.1A>G (p.Met1Val) | ClinVar dbSNP gnomAD v4 |
11 | g.116836284T>G | CA382716727 | APOA1,APOA1-AS | c.328A>C (p.Met110Leu) c.262A>C (p.Met88Leu) n.123+45T>G c.1A>C (p.Met1Leu) | |
11 | g.116836285C>A | CA382716731 | APOA1,APOA1-AS | c.327G>T (p.Glu109Asp) c.261G>T (p.Glu87Asp) n.123+46C>A c.-1G>T (n.-1G>T) | |
11 | g.116836285C= | CA2002762000 | APOA1,APOA1-AS | c.327G= (p.Glu109=) c.261G= (p.Glu87=) n.123+46C= c.-1G= (n.-1G=) | |
11 | g.116836285C>G | CA382716733 | APOA1,APOA1-AS | c.327G>C (p.Glu109Asp) c.261G>C (p.Glu87Asp) n.123+46C>G c.-1G>C (n.-1G>C) | |
11 | g.116836285C>T | CA6289825 | APOA1,APOA1-AS | c.327G>A (p.Glu109=) c.261G>A (p.Glu87=) n.123+46C>T c.-1G>A (n.-1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116836287_116836289del | CA2616111705 | APOA1,APOA1-AS | c.325_327del (p.Glu109del) c.259_261del (p.Glu87del) n.123+48_123+50del c.-3_-1del (n.-3_-1del) | gnomAD v4 |
11 | g.116836286T>A | CA382716736 | APOA1,APOA1-AS | c.326A>T (p.Glu109Val) c.260A>T (p.Glu87Val) n.123+47T>A c.-2A>T (n.-2A>T) | |
11 | g.116836286T>C | CA382716737 | APOA1,APOA1-AS | c.326A>G (p.Glu109Gly) c.260A>G (p.Glu87Gly) n.123+47T>C c.-2A>G (n.-2A>G) | |
11 | g.116836286T>G | CA382716739 | APOA1,APOA1-AS | c.326A>C (p.Glu109Ala) c.260A>C (p.Glu87Ala) n.123+47T>G c.-2A>C (n.-2A>C) | |
11 | g.116836287C>A | CA382716741 | APOA1,APOA1-AS | c.325G>T (p.Glu109Ter) c.259G>T (p.Glu87Ter) n.123+48C>A c.-3G>T (n.-3G>T) | |
11 | g.116836287C>G | CA382716742 | APOA1,APOA1-AS | c.325G>C (p.Glu109Gln) c.259G>C (p.Glu87Gln) n.123+48C>G c.-3G>C (n.-3G>C) | |
11 | g.116836287C>T | CA382716743 | APOA1,APOA1-AS | c.325G>A (p.Glu109Lys) c.259G>A (p.Glu87Lys) n.123+48C>T c.-3G>A (n.-3G>A) | |
11 | g.116836288C>A | CA382716747 | APOA1,APOA1-AS | c.324G>T (p.Gln108His) c.258G>T (p.Gln86His) n.123+49C>A c.-4G>T (n.-4G>T) | |
11 | g.116836288C= | CA2002762001 | APOA1,APOA1-AS | c.324G= (p.Gln108=) c.258G= (p.Gln86=) n.123+49C= c.-4G= (n.-4G=) | |
11 | g.116836288C>G | CA382716749 | APOA1,APOA1-AS | c.324G>C (p.Gln108His) c.258G>C (p.Gln86His) n.123+49C>G c.-4G>C (n.-4G>C) | |
11 | g.116836288C>T | CA229324452 | APOA1,APOA1-AS | c.324G>A (p.Gln108=) c.258G>A (p.Gln86=) n.123+49C>T c.-4G>A (n.-4G>A) | dbSNP |
11 | g.116836289T>A | CA382716751 | APOA1,APOA1-AS | c.323A>T (p.Gln108Leu) c.257A>T (p.Gln86Leu) n.123+50T>A c.-5A>T (n.-5A>T) | |
11 | g.116836289T>C | CA382716754 | APOA1,APOA1-AS | c.323A>G (p.Gln108Arg) c.257A>G (p.Gln86Arg) n.123+50T>C c.-5A>G (n.-5A>G) | gnomAD v4 |
11 | g.116836289T>G | CA382716756 | APOA1,APOA1-AS | c.323A>C (p.Gln108Pro) c.257A>C (p.Gln86Pro) n.123+50T>G c.-5A>C (n.-5A>C) | |
11 | g.116836290G>A | CA127566 | APOA1,APOA1-AS | c.322C>T (p.Gln108Ter) c.256C>T (p.Gln86Ter) n.123+51G>A c.-6C>T (n.-6C>T) | ClinVar dbSNP gnomAD v4 |
11 | g.116836290G>C | CA382716759 | APOA1,APOA1-AS | c.322C>G (p.Gln108Glu) c.256C>G (p.Gln86Glu) n.123+51G>C c.-6C>G (n.-6C>G) | |
11 | g.116836290G= | CA2002762002 | APOA1,APOA1-AS | c.322C= (p.Gln108=) c.256C= (p.Gln86=) n.123+51G= c.-6C= (n.-6C=) | |
11 | g.116836290G>T | CA382716761 | APOA1,APOA1-AS | c.322C>A (p.Gln108Lys) c.256C>A (p.Gln86Lys) n.123+51G>T c.-6C>A (n.-6C>A) | |
11 | g.116836291C>A | CA382716762 | APOA1,APOA1-AS | c.321G>T (p.Arg107Ser) c.255G>T (p.Arg85Ser) n.123+52C>A c.-7G>T (n.-7G>T) | |
11 | g.116836291C= | CA2002762003 | APOA1,APOA1-AS | c.321G= (p.Arg107=) c.255G= (p.Arg85=) n.123+52C= c.-7G= (n.-7G=) | |
11 | g.116836291C>G | CA382716764 | APOA1,APOA1-AS | c.321G>C (p.Arg107Ser) c.255G>C (p.Arg85Ser) n.123+52C>G c.-7G>C (n.-7G>C) | dbSNP gnomAD v2 |
11 | g.116836291C>T | CA477049162 | APOA1,APOA1-AS | c.321G>A (p.Arg107=) c.255G>A (p.Arg85=) n.123+52C>T c.-7G>A (n.-7G>A) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.116836292C>A | CA382716769 | APOA1,APOA1-AS | c.320G>T (p.Arg107Met) c.254G>T (p.Arg85Met) n.123+53C>A c.-8G>T (n.-8G>T) | dbSNP gnomAD v4 |
11 | g.116836292C>G | CA382716771 | APOA1,APOA1-AS | c.320G>C (p.Arg107Thr) c.254G>C (p.Arg85Thr) n.123+53C>G c.-8G>C (n.-8G>C) | |
11 | g.116836292C>T | CA382716773 | APOA1,APOA1-AS | c.320G>A (p.Arg107Lys) c.254G>A (p.Arg85Lys) n.123+53C>T c.-8G>A (n.-8G>A) | |
11 | g.116836293T>A | CA382716775 | APOA1,APOA1-AS | c.319A>T (p.Arg107Trp) c.253A>T (p.Arg85Trp) n.123+54T>A c.-9A>T (n.-9A>T) | |
11 | g.116836293T>C | CA382716776 | APOA1,APOA1-AS | c.319A>G (p.Arg107Gly) c.253A>G (p.Arg85Gly) n.123+54T>C c.-9A>G (n.-9A>G) | |
11 | g.116836293T>G | CA477049174 | APOA1,APOA1-AS | c.319A>C (p.Arg107=) c.253A>C (p.Arg85=) n.123+54T>G c.-9A>C (n.-9A>C) | dbSNP gnomAD v2 |
11 | g.116836293T= | CA2002762004 | APOA1,APOA1-AS | c.319A= (p.Arg107=) c.253A= (p.Arg85=) n.123+54T= c.-9A= (n.-9A=) | |
11 | g.116836294C>A | CA477049176 | APOA1,APOA1-AS | c.318G>T (p.Leu106=) c.252G>T (p.Leu84=) n.123+55C>A c.-10G>T (n.-10G>T) | |
11 | g.116836294C>G | CA477049179 | APOA1,APOA1-AS | c.318G>C (p.Leu106=) c.252G>C (p.Leu84=) n.123+55C>G c.-10G>C (n.-10G>C) | |
11 | g.116836294C>T | CA477049184 | APOA1,APOA1-AS | c.318G>A (p.Leu106=) c.252G>A (p.Leu84=) n.123+55C>T c.-10G>A (n.-10G>A) | |
11 | g.116836295A>C | CA382716778 | APOA1,APOA1-AS | c.317T>G (p.Leu106Arg) c.251T>G (p.Leu84Arg) n.123+56A>C c.-11T>G (n.-11T>G) | |
11 | g.116836295A>G | CA382716782 | APOA1,APOA1-AS | c.317T>C (p.Leu106Pro) c.251T>C (p.Leu84Pro) n.123+56A>G c.-11T>C (n.-11T>C) | |
11 | g.116836295A>T | CA382716780 | APOA1,APOA1-AS | c.317T>A (p.Leu106Gln) c.251T>A (p.Leu84Gln) n.123+56A>T c.-11T>A (n.-11T>A) | |
11 | g.116836296G>A | CA477049195 | APOA1,APOA1-AS | c.316C>T (p.Leu106=) c.250C>T (p.Leu84=) n.123+57G>A c.-12C>T (n.-12C>T) | |
11 | g.116836296G>C | CA382716784 | APOA1,APOA1-AS | c.316C>G (p.Leu106Val) c.250C>G (p.Leu84Val) n.123+57G>C c.-12C>G (n.-12C>G) | dbSNP |
11 | g.116836296G= | CA2002762005 | APOA1,APOA1-AS | c.316C= (p.Leu106=) c.250C= (p.Leu84=) n.123+57G= c.-12C= (n.-12C=) | |
11 | g.116836296G>T | CA382716786 | APOA1,APOA1-AS | c.316C>A (p.Leu106Met) c.250C>A (p.Leu84Met) n.123+57G>T c.-12C>A (n.-12C>A) | |
11 | g.116836297G>A | CA6289826 | APOA1,APOA1-AS | c.315C>T (p.Gly105=) c.249C>T (p.Gly83=) n.123+58G>A c.-13C>T (n.-13C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.116836297G>C | CA477049197 | APOA1,APOA1-AS | c.315C>G (p.Gly105=) c.249C>G (p.Gly83=) n.123+58G>C c.-13C>G (n.-13C>G) | |
11 | g.116836297G= | CA2002762006 | APOA1,APOA1-AS | c.315C= (p.Gly105=) c.249C= (p.Gly83=) n.123+58G= c.-13C= (n.-13C=) | |
11 | g.116836297G>T | CA477049200 | APOA1,APOA1-AS | c.315C>A (p.Gly105=) c.249C>A (p.Gly83=) n.123+58G>T c.-13C>A (n.-13C>A) | COSMIC |
11 | g.116836297_116836298del | CA2793765526 | APOA1,APOA1-AS | c.314_315del (p.Gly105AlafsTer?) c.248_249del (p.Gly83AlafsTer?) n.123+58_123+59del c.-14_-13del (n.-14_-13del) | |
11 | g.116836298C>A | CA382716789 | APOA1,APOA1-AS | c.314G>T (p.Gly105Val) c.248G>T (p.Gly83Val) n.123+59C>A c.-14G>T (n.-14G>T) | |
11 | g.116836298C= | CA2002762007 | APOA1,APOA1-AS | c.314G= (p.Gly105=) c.248G= (p.Gly83=) n.123+59C= c.-14G= (n.-14G=) | |
11 | g.116836298C>G | CA382716791 | APOA1,APOA1-AS | c.314G>C (p.Gly105Ala) c.248G>C (p.Gly83Ala) n.123+59C>G c.-14G>C (n.-14G>C) | |
11 | g.116836298C>T | CA382716793 | APOA1,APOA1-AS | c.314G>A (p.Gly105Asp) c.248G>A (p.Gly83Asp) n.123+59C>T c.-14G>A (n.-14G>A) | dbSNP |
11 | g.116836299C>A | CA382716794 | APOA1,APOA1-AS | c.313G>T (p.Gly105Cys) c.247G>T (p.Gly83Cys) n.123+60C>A c.-15G>T (n.-15G>T) | COSMIC |
11 | g.116836299C>G | CA382716796 | APOA1,APOA1-AS | c.313G>C (p.Gly105Arg) c.247G>C (p.Gly83Arg) n.123+60C>G c.-15G>C (n.-15G>C) | |
11 | g.116836299C>T | CA382716798 | APOA1,APOA1-AS | c.313G>A (p.Gly105Ser) c.247G>A (p.Gly83Ser) n.123+60C>T c.-15G>A (n.-15G>A) | |
11 | g.116836299_116836300insGA | CA2793765527 | APOA1,APOA1-AS | c.312_313insTC (p.Gly105SerfsTer3) c.246_247insTC (p.Gly83SerfsTer3) n.123+60_123+61insGA c.-16_-15insTC (n.-16_-15insTC) | |
11 | g.116836300C>A | CA6289827 | APOA1,APOA1-AS | c.312G>T (p.Glu104Asp) c.246G>T (p.Glu82Asp) n.123+61C>A c.-16G>T (n.-16G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.116836300C= | CA2002762008 | APOA1,APOA1-AS | c.312G= (p.Glu104=) c.246G= (p.Glu82=) n.123+61C= c.-16G= (n.-16G=) | |
11 | g.116836300C>G | CA382716801 | APOA1,APOA1-AS | c.312G>C (p.Glu104Asp) c.246G>C (p.Glu82Asp) n.123+61C>G c.-16G>C (n.-16G>C) | |
11 | g.116836300C>T | CA477049219 | APOA1,APOA1-AS | c.312G>A (p.Glu104=) c.246G>A (p.Glu82=) n.123+61C>T c.-16G>A (n.-16G>A) | |
11 | g.116836302_116836303del | CA2575000172 | APOA1,APOA1-AS | c.311_312del (p.Glu104GlyfsTer?) c.245_246del (p.Glu82GlyfsTer?) n.123+63_123+64del c.-17_-16del (n.-17_-16del) | |
11 | g.116836301T>A | CA382716805 | APOA1,APOA1-AS | c.311A>T (p.Glu104Val) c.245A>T (p.Glu82Val) n.123+62T>A c.-17A>T (n.-17A>T) | |
11 | g.116836301T>C | CA382716807 | APOA1,APOA1-AS | c.311A>G (p.Glu104Gly) c.245A>G (p.Glu82Gly) n.123+62T>C c.-17A>G (n.-17A>G) | |
11 | g.116836301T>G | CA382716803 | APOA1,APOA1-AS | c.311A>C (p.Glu104Ala) c.245A>C (p.Glu82Ala) n.123+62T>G c.-17A>C (n.-17A>C) | |
11 | g.116836302C>A | CA382716810 | APOA1,APOA1-AS | c.310G>T (p.Glu104Ter) c.244G>T (p.Glu82Ter) n.123+63C>A c.-18G>T (n.-18G>T) | |
11 | g.116836302C= | CA2002762009 | APOA1,APOA1-AS | c.310G= (p.Glu104=) c.244G= (p.Glu82=) n.123+63C= c.-18G= (n.-18G=) | |
11 | g.116836302C>G | CA382716814 | APOA1,APOA1-AS | c.310G>C (p.Glu104Gln) c.244G>C (p.Glu82Gln) n.123+63C>G c.-18G>C (n.-18G>C) | |
11 | g.116836302C>T | CA6289828 | APOA1,APOA1-AS | c.310G>A (p.Glu104Lys) c.244G>A (p.Glu82Lys) n.123+63C>T c.-18G>A (n.-18G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.116836303T>A | CA477049239 | APOA1,APOA1-AS | c.309A>T (p.Thr103=) c.243A>T (p.Thr81=) n.123+64T>A c.-19A>T (n.-19A>T) | |
11 | g.116836303T>C | CA477049240 | APOA1,APOA1-AS | c.309A>G (p.Thr103=) c.243A>G (p.Thr81=) n.123+64T>C c.-19A>G (n.-19A>G) | |
11 | g.116836303T>G | CA477049241 | APOA1,APOA1-AS | c.309A>C (p.Thr103=) c.243A>C (p.Thr81=) n.123+64T>G c.-19A>C (n.-19A>C) |