UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.116830247_116836307delinsAGACAGAGGGCCTGAGGCAGGAGATGAGCAAGGATCTGGAGGAGGTGAAGGCCAAGGTGCAGCCCTACCTGGACGACTTCCAGAAGAAGTGGCAGGAGGAGATGGAGCTCTACCGCCAGAAGGTGGAGCCGCTGCGCGCAGAGCTCCAAGAGGGCGCGCGCCAGAAGCTGCACGAGCTGCAAGAGAAGCTGAGCCCACTGGGCGAGGAGATGCGCGACCGCGCGCGCGCCCATGTGGACGCGCTGCGCACGCATCTGGCCCCCTACAGCGACGAGCTGCGCCAGCGCTTGGCCGCGCGCCTTGAGGCTCTCAAGGAGAACGGCGGCGCCAGACTGGCCGAGTACCACGCCAAGGCCACCGAGCATCTGAGCACGCTCAGCGAGAAGGCCAAGCCCGCGCTCGAGGACCTCCGCCAAGGCCTGCTGCCCGTGCTGGAGAGCTTCAAGGTCAGCTTCCTGAGCGCTCTCGAGGAGTACACTAAGAAGCTCAACACCCAGTGAGGCGCCCGCCGCCGCCCCCCTTCCCGGTGCTCAGAATAAACGTTTCCAAAGTGGGAAGCAGCTTCTTTCTTTTGGGAGAATAGAGGGGGGTGCGGGGACATCCGGGGGAGCCCGGGTGGGGCCTTTGGCCCTGGAGCAGGGACTTCCTGCCGGATCTCAACAACTCCGTGCCCAGACTGGACGTCTTAGGGCCAAGATCGACGTTGGAGGACCTGCTGGACGCCTGGCTGCTTACGAGTGAGGGAGTAGAGTCTGCCTTAGCAAGGCTCAAGTAGAAAGGAAGTCACAGCGGACCAGGCAAAGCCACAGACAATCCAAGGCCAGGTGCCCTGAAAGGGGCTCAAACAAGGCCTGCAGCCCTGTCTGAGGCGGGCCAGGAAACAGGGTTGCTTTAGCTGGGAGCAGTGGGTTCCCCGTCCCCAGAGGTGTGTCCGTATAGAGCCTTCTCCAGCCCAGCCGCTGTCAGCGGGGCGGGACGGAGCGGGGCGGCCTCAGGGAGCCAGCCACTGGGATTGGGGTTTGGTCCCGGGTGCAAGTGAAGCGCTTGGAGTTTGCGCCTGTCCTCCTTTACTAATTCAAAAACCTCTCAAACAGACACTTCCCTTTTCTTCTCACAAGGCCAGTATCCCCCTCCCACTACTCCCATCCCGCCCAGAAACAGCCGCGGCTTCCTCAGGCACAGCAGTGGAAGCCAGTCCTCCACCCCCTGCGGCTCCATGCCATGCCACCCCCTCTTTCTGCCAGCCCTGGCAGAAGCTGGCCTGAGTAAGAAAATTCACCACCACCTCTTGCAGGTACATTTTTATTTCCAAGATGCTCTCATATCTGTGCTCTCACTGCATCCTCCCTTCCCCACATCCTGGCTAGATTGCCATCAGACGCAGAGCATGGATGAGGACACTGAAGCCTGGACCTGTGACGTCGCTTGCCCAGTGAACAGCAGGATGGGCTAGGCCGCGCTTTTTAGACCCTGCACCCCTGGCCATCCATGATTATTGAAAAGAGTGCGCGGGTCGGGTGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGTATCACTTCAGGCCAGGAGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATCAGCTGGGCATGGTGGCTTGCACCCGTAATCCCAGCTACTAGGAAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTCACAGTGAGCCGAAATCATGCCACTGCACTCCAGCCTGGGCGACGGAGCAAGACTCCAGCTAAAAAAAAAAAAAAAAAAAAAAGAGTGTGTGGCCTGGCACTCAAGTTCACATGGGTGTGCAGGCATGCCTGTGTATTCTCACATGACCTCCCTGCTCACGGTCCCTCCTTGCACTCATGTCTGAATGTCCCCGCGTGCACGCACATGGCTTCACAGATCTGGGCAGTGCCTTCCCTACCCTCTCTCTGCAGGGCCTTTTGCCCCCTCATGCAGGCCCCTGGATAATCGGCCCCATCCCCATGTCCCCATCTCCAGTGTATCTTAGCTACCCTAGGTAAAGGAGTGGGCTTTTTAGTTCCTAACCTTCCAGAGCTACAACAGCAGTCATCCAGCCAGGTCTGGGTGGGAACATTTTCTAGATACGGGTGCTGAGATCTCTCAGCCCAGAGAGAAGCCCTGGGGAATTTTCAGAGAGAAAGCAGTCTCCAGGTGGGGCTGGATGTACTGATGCCACTGAGATCTGTAAAGGAGTCCCTAACACCTGACATAGGAGTGACAAAACTGTTTTCTGCACCAACTGAGCAGAATACACGCAGCTGACCTGGGCTCAAGGTCTGGCCCTGCCACGTGCTGGCTCTGTGATGCTGGCCAAGTGCCTTCGCCTCTCCGGGCCACAGTTTTTTGATCTGAAGAGTGGAGCCCTACTCAAGCCATCTGCAGCTCTCGGGCTCTCTGACCTGACATCTTTCGGGTGGTGGGGACACAAAGGAAGCAGCCTCTATTGGGAGACCTTGTGCTTCTTTTTGGTCCCAGGACACTGCCCCCCACCACTCCAGTCCGGGTCCCAAGGGCCCAGTCAGCTCAACTGTAATCATGACAACATTGATCAAGCATCTTTACGTGCAGGTGCTGTGCCAAACGGTTCGAACGCTCTCTCATTTCAATCTCACGGCAAACCTACGGTGGAGGGGGTACGGTTGTATCCACTTTACATGTAAGAAACTGAGGCTGATATCAAGTGGTGGAGCCAAGAATAGTGCCTCGTTGCATCTTACTCCAACCTCTAGCCCATCCGGCCTCCTCCCTTCACGTGCGCCTAAGAGGGCTAGGGGGCCTGGATAGGGGAGGTCAGCTCCACAGTTTTGAGTAAACACACACAGTCTCAACTCTGATGACAACTTAAGTGCCAGGCATAGTGGCTGGCATGGGGCACACACTCAAGTCATGTTGTGCAGCACCTAACAGTTTATCAAAGTATCAGCAAACTTATTGTCCTGTTTGACCTTCCGCACAAAGCTGTCAAGGAAGGCAGGGTACGGAGGGTGATTCCTACCTTAGAGATGAAGAAACTGAGGCCCAGAGACTGCCCAGCTACCAGAAGGTGGATAGAGCGCTGGCCTCCATGCCTGCCTGACCTGGAGTCTGTCCAGTGCCCACCCACAGAACAGCCTCGGCCCTTTCCCATGCCCAGACACAGATGGCACACTTGCGACGGCCCACTCATAGCAGCTTCTTGTCCAGCTTTATTGGGAGGCCAGCATGCCTGGAGGGGGGCCAGGCATGAGGTGGGGTAGGAGAGCACTGAGAATACTGTCCCTTTTAAGCAACCTACAGGGGCAGCCCTGGAGATTGCAGGACCCAAGGAGCTCGCAGGATGGATAGGCAGGTGGACTTGGGGTATTGAGGTCTCAGGCAGCCACGGCTGAAGTTGGTCTGACCTCAGGGTCCAAATCCCAGAACTCAGAGAACTTGTCCTTAACGGTGCTCCAGTAGTCTTTCAGGGAACTGAAGCCATCGGTCACCCAGCCCCTAAATCAGTCAGGGGAAGCAACAGAGCAGGGCATGAGAACTCCTCTGTAGGCAACCATGGGACCCACACCCATGTCCCCACTGGACGACACCAGTCAGGACCACACCACCCTCTCAACTTCACTGGACGACAGCCCTGAGACCTCAGGCAGGAATCCCCCACAGCTGCCACCCTGGGAGAAGAGATATCCTTGCAGGAACCCCAGCACAAGTCAAACCCTGCCATCTCCAGGTCACCTCAGATGTTTATGCCCCTGGGCCTGAGGCACAAAGTGACAGGGTGGGGAGATGTGAAAGGTCAAGGCTGTCATTGTTTTCTGTGCAAACAGCACCGCCTGGAGTTGCACAACCTGGTGGCTCTGAGCAGGGTAGGACAGAGGGAGGCAGCCTCTCATTTGGAAAGTCATTGGAGGATTGATTAGTTGTGTGATCTGGGGCAGGTCACCTAATCGCTCTGAGCCTCAATTTTCTCATCTGCAAAGTGAGAAAATAACACCTACCCCAAAGCCGGTTCTGGGGACTAAGAATGTTTATGAACACCTCTGCTATGCCAGCTAATGCCAGTCAGGGTGAGGTGGAGAAGGGAGTAGGGGAGAGGAGAGTACTGATGGGCAGGGGCAGGATGGGAGAGGAAGGACACACTTCTGCTCACACTGGCCCCAGGTCTTAGAACAAAGCAGAAGCACTCACGGGCTTGAATTGGGTCAGGTGGGGCCTCCCAAGGCAAACCCCTAGCCCAGGGGTCCCCAACCCCCAAGTCATAGATAGGTACTGGTCCATGGACTGTTAGGAGCCGGGCTGCACAGCACGAAGTGAGTGGTGGGTGAGTGAGCAATACCGCCTGAGCTCCGCCTCCTGTCAGATCAAGTGGCCTTACATTCTCATAGGAGTGTGAACCCTATTGTGAACTGCACATGCCAGGGATCTAGGTGGAGGGCTCCTTATGAGAATCTAATGCCTGATGATCTGAGGTGGAACAGCTTCATCCCAAAACCATCCCCGCTGGCCCATGGAAAAATTGTCCACCACAAAACTGGTCCCTGGTGCCAAAAAGGCTGAGGACCACTGCTCTAGCCAGACCTTCAGAAAAGGAAAATGGGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCCCCTGAGGTCAGGAATTCAAGACCAACCTGGCCAACATGGTGAAACCCCATCTCTGCTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGGTTGAACCCGGGAGACGGAGGTTGCAGTGAGCCGAGATGGCACCACTGCACTCCAGCCTAGGTGACAGAGGGAGACTCCATTAAAAAAAAAAGAAGAAGAAAGAAAGAGAGAAAGGAAGAGAGGGAAAGAAAGAAAAAGGAAAGAAAGAAAGAAAGAGAAAGAAAGGAAAGAAAGAAAGAAAGGAAAGAAAGAAAGGAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAATAGAAAGAGAAAGAAAGGGAAAGGAAAGGAAAATGGAAATGAGGGCTAAAACGGCACGCCCTAGGACTGCTCCGGGGAGAAAGGAGGGACCTGGGAGGAATGCAGTCTCAACTCTGTCATCTCTCCCGCAGCAGCCTGACAAAGGCCCTGTGAGGAAAGAGGAGGCTGAAGAGGCACAGGCCCAGGGGAGGCTGGAGCACCTCCATTCCATTGTTGGGATCTCACCAGGGCAGGGGCGGGTGGGAATGGAGGCAGCTGGCAGGGGGGATGGGGAGGGAGGCCAGCGGGTGTACCTGGCCTGCTGGGCCACCTGGGACTCCTGCACGCTGCTCAGTGCATCCTTGGCGGTCTTGGTGGCGTGCTTCATGTAACCCTGCATGAAGCTGAGAAGGGAGGCATCCTCGGCCTCTGAAGCTCCTGAGGAAAGAGCAGGGCTGAGTGGGGTGGATCGGCCTCTGGACGAGCCCTGGGCTCCTGCTTGACCACCCATTGGGACTGGGATCCCCAAGTTGCCTCCACCCTGCCCCCAGCCCAGTCCCACCAAGTGCTTACGGGCAGAGGCCAGGAGCGCCAGGAGGGCAACAACAAGGAGTACCCGGGGCTGCATGGCACCTCTGTTCCTGCAAGGAAGTGTCCTGTGAGGGGCACCCCAGGTCCCCATGCCTCTGGACCCCTCCCTGGGGAGGTGGCGTGGCCCCTAAGGTAGAACCTTAGCTGGGTCTGCCAGAAGGAGTAGGGGCCGGCTCCCTGCTAATACGGGCTCTCAGAAGGGGGACTGGTGAGGGGCGAGGGATCGAGGCCCAAAGGGAGGTGGGTGGGATGGAGCAGAAAACCCACCAGACTGAACATCAAGGCACCTGCGGTCTGGACTGATCTCCGTCCAGTCCAGCCAACATGCTGTGTGTCTTTGGGTGATTTCTGGCCCTCTCCAGGCCTCAGTTTC | CA2697558960 | ClinVar | ||
| 11 | g.116836062_116836106del | CA2695215582 | APOA1 | c.508_552del (p.Glu170_Arg184del) c.442_486del (p.Glu148_Arg162del) c.181_225del (p.Glu61_Arg75del) | |
| 11 | g.116836091_116836096del | CA2575000170 | APOA1 | c.516_521del (p.Met172_Asp174delinsIle) c.450_455del (p.Met150_Asp152delinsIle) c.189_194del (p.Met63_Asp65delinsIle) | |
| 11 | g.116836094C>A | CA382715363 | APOA1 | c.518G>T (p.Arg173Leu) c.452G>T (p.Arg151Leu) c.191G>T (p.Arg64Leu) | gnomAD v4 |
| 11 | g.116836094C= | CA2002761894 | APOA1 | c.518G= (p.Arg173=) c.452G= (p.Arg151=) c.191G= (p.Arg64=) | |
| 11 | g.116836094C>G | CA127586 | APOA1 | c.518G>C (p.Arg173Pro) c.452G>C (p.Arg151Pro) c.191G>C (p.Arg64Pro) | ClinVar dbSNP |
| 11 | g.116836094C>T | CA382715366 | APOA1 | c.518G>A (p.Arg173His) c.452G>A (p.Arg151His) c.191G>A (p.Arg64His) | COSMIC |
| 11 | g.116836095G>A | CA382715367 | APOA1 | c.517C>T (p.Arg173Cys) c.451C>T (p.Arg151Cys) c.190C>T (p.Arg64Cys) | |
| 11 | g.116836095G>C | CA382715369 | APOA1 | c.517C>G (p.Arg173Gly) c.451C>G (p.Arg151Gly) c.190C>G (p.Arg64Gly) | |
| 11 | g.116836095G>T | CA382715370 | APOA1 | c.517C>A (p.Arg173Ser) c.451C>A (p.Arg151Ser) c.190C>A (p.Arg64Ser) | gnomAD v4 |
| 11 | g.116836096C>A | CA382715375 | APOA1 | c.516G>T (p.Met172Ile) c.450G>T (p.Met150Ile) c.189G>T (p.Met63Ile) | ClinVar |
| 11 | g.116836096C>G | CA382715374 | APOA1 | c.516G>C (p.Met172Ile) c.450G>C (p.Met150Ile) c.189G>C (p.Met63Ile) | gnomAD v4 |
| 11 | g.116836096C>T | CA382715372 | APOA1 | c.516G>A (p.Met172Ile) c.450G>A (p.Met150Ile) c.189G>A (p.Met63Ile) | gnomAD v4 |
| 11 | g.116836097A>C | CA382715377 | APOA1 | c.515T>G (p.Met172Arg) c.449T>G (p.Met150Arg) c.188T>G (p.Met63Arg) | |
| 11 | g.116836097A>G | CA382715379 | APOA1 | c.515T>C (p.Met172Thr) c.449T>C (p.Met150Thr) c.188T>C (p.Met63Thr) | |
| 11 | g.116836097A>T | CA382715380 | APOA1 | c.515T>A (p.Met172Lys) c.449T>A (p.Met150Lys) c.188T>A (p.Met63Lys) | |
| 11 | g.116836098T>A | CA382715383 | APOA1 | c.514A>T (p.Met172Leu) c.448A>T (p.Met150Leu) c.187A>T (p.Met63Leu) | |
| 11 | g.116836098T>C | CA382715386 | APOA1 | c.514A>G (p.Met172Val) c.448A>G (p.Met150Val) c.187A>G (p.Met63Val) | dbSNP |
| 11 | g.116836098T>G | CA382715388 | APOA1 | c.514A>C (p.Met172Leu) c.448A>C (p.Met150Leu) c.187A>C (p.Met63Leu) | gnomAD v4 |
| 11 | g.116836098T= | CA2002761895 | APOA1 | c.514A= (p.Met172=) c.448A= (p.Met150=) c.187A= (p.Met63=) | |
| 11 | g.116836099C>A | CA382715390 | APOA1 | c.513G>T (p.Glu171Asp) c.447G>T (p.Glu149Asp) c.186G>T (p.Glu62Asp) | |
| 11 | g.116836099C>G | CA382715394 | APOA1 | c.513G>C (p.Glu171Asp) c.447G>C (p.Glu149Asp) c.186G>C (p.Glu62Asp) | |
| 11 | g.116836099C>T | CA477048695 | APOA1 | c.513G>A (p.Glu171=) c.447G>A (p.Glu149=) c.186G>A (p.Glu62=) | |
| 11 | g.116836100T>A | CA229324196 | APOA1 | c.512A>T (p.Glu171Val) c.446A>T (p.Glu149Val) c.185A>T (p.Glu62Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116836100T>C | CA382715398 | APOA1 | c.512A>G (p.Glu171Gly) c.446A>G (p.Glu149Gly) c.185A>G (p.Glu62Gly) | |
| 11 | g.116836100T>G | CA382715401 | APOA1 | c.512A>C (p.Glu171Ala) c.446A>C (p.Glu149Ala) c.185A>C (p.Glu62Ala) | |
| 11 | g.116836100T= | CA2002761896 | APOA1 | c.512A= (p.Glu171=) c.446A= (p.Glu149=) c.185A= (p.Glu62=) | |
| 11 | g.116836101C>A | CA382715405 | APOA1 | c.511G>T (p.Glu171Ter) c.445G>T (p.Glu149Ter) c.184G>T (p.Glu62Ter) | |
| 11 | g.116836101C= | CA2002761897 | APOA1 | c.511G= (p.Glu171=) c.445G= (p.Glu149=) c.184G= (p.Glu62=) | |
| 11 | g.116836101C>G | CA382715406 | APOA1 | c.511G>C (p.Glu171Gln) c.445G>C (p.Glu149Gln) c.184G>C (p.Glu62Gln) | |
| 11 | g.116836101C>T | CA382715408 | APOA1 | c.511G>A (p.Glu171Lys) c.445G>A (p.Glu149Lys) c.184G>A (p.Glu62Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116836102C>A | CA382715415 | APOA1 | c.510G>T (p.Glu170Asp) c.444G>T (p.Glu148Asp) c.183G>T (p.Glu61Asp) | |
| 11 | g.116836102C= | CA2002761898 | APOA1 | c.510G= (p.Glu170=) c.444G= (p.Glu148=) c.183G= (p.Glu61=) | |
| 11 | g.116836102C>G | CA382715413 | APOA1 | c.510G>C (p.Glu170Asp) c.444G>C (p.Glu148Asp) c.183G>C (p.Glu61Asp) | |
| 11 | g.116836102C>T | CA477048697 | APOA1 | c.510G>A (p.Glu170=) c.444G>A (p.Glu148=) c.183G>A (p.Glu61=) | dbSNP |
| 11 | g.116836103T>A | CA382715420 | APOA1 | c.509A>T (p.Glu170Val) c.443A>T (p.Glu148Val) c.182A>T (p.Glu61Val) | |
| 11 | g.116836103T>C | CA382715422 | APOA1 | c.509A>G (p.Glu170Gly) c.443A>G (p.Glu148Gly) c.182A>G (p.Glu61Gly) | |
| 11 | g.116836103T>G | CA382715425 | APOA1 | c.509A>C (p.Glu170Ala) c.443A>C (p.Glu148Ala) c.182A>C (p.Glu61Ala) | |
| 11 | g.116836104C>A | CA382715427 | APOA1 | c.508G>T (p.Glu170Ter) c.442G>T (p.Glu148Ter) c.181G>T (p.Glu61Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116836104C= | CA2002761899 | APOA1 | c.508G= (p.Glu170=) c.442G= (p.Glu148=) c.181G= (p.Glu61=) | |
| 11 | g.116836104C>G | CA382715429 | APOA1 | c.508G>C (p.Glu170Gln) c.442G>C (p.Glu148Gln) c.181G>C (p.Glu61Gln) | gnomAD v4 |
| 11 | g.116836104C>T | CA6289792 | APOA1 | c.508G>A (p.Glu170Lys) c.442G>A (p.Glu148Lys) c.181G>A (p.Glu61Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116836105G>A | CA477048700 | APOA1 | c.507C>T (p.Gly169=) c.441C>T (p.Gly147=) c.180C>T (p.Gly60=) | |
| 11 | g.116836105G>C | CA229324211 | APOA1 | c.507C>G (p.Gly169=) c.441C>G (p.Gly147=) c.180C>G (p.Gly60=) | dbSNP |
| 11 | g.116836105G= | CA2002761900 | APOA1 | c.507C= (p.Gly169=) c.441C= (p.Gly147=) c.180C= (p.Gly60=) | |
| 11 | g.116836105G>T | CA6289793 | APOA1 | c.507C>A (p.Gly169=) c.441C>A (p.Gly147=) c.180C>A (p.Gly60=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116836106C>A | CA382715438 | APOA1 | c.506G>T (p.Gly169Val) c.440G>T (p.Gly147Val) c.179G>T (p.Gly60Val) | |
| 11 | g.116836106C>G | CA382715441 | APOA1 | c.506G>C (p.Gly169Ala) c.440G>C (p.Gly147Ala) c.179G>C (p.Gly60Ala) | |
| 11 | g.116836106C>T | CA382715444 | APOA1 | c.506G>A (p.Gly169Asp) c.440G>A (p.Gly147Asp) c.179G>A (p.Gly60Asp) | |
| 11 | g.116836107C>A | CA382715447 | APOA1 | c.505G>T (p.Gly169Cys) c.439G>T (p.Gly147Cys) c.178G>T (p.Gly60Cys) | |
| 11 | g.116836107C>G | CA382715449 | APOA1 | c.505G>C (p.Gly169Arg) c.439G>C (p.Gly147Arg) c.178G>C (p.Gly60Arg) | |
| 11 | g.116836107C>T | CA382715452 | APOA1 | c.505G>A (p.Gly169Ser) c.439G>A (p.Gly147Ser) c.178G>A (p.Gly60Ser) | gnomAD v4 |
| 11 | g.116836107_116836108delinsTT | CA645580555 | APOA1 | c.504_505delinsAA (p.Gly169Ser) c.438_439delinsAA (p.Gly147Ser) c.177_178delinsAA (p.Gly60Ser) | COSMIC |
| 11 | g.116836108C>A | CA477048702 | APOA1 | c.504G>T (p.Leu168=) c.438G>T (p.Leu146=) c.177G>T (p.Leu59=) | gnomAD v4 |
| 11 | g.116836108C>G | CA477048703 | APOA1 | c.504G>C (p.Leu168=) c.438G>C (p.Leu146=) c.177G>C (p.Leu59=) | |
| 11 | g.116836108C>T | CA477048704 | APOA1 | c.504G>A (p.Leu168=) c.438G>A (p.Leu146=) c.177G>A (p.Leu59=) | gnomAD v4 |
| 11 | g.116836109A= | CA2002761901 | APOA1 | c.503T= (p.Leu168=) c.437T= (p.Leu146=) c.176T= (p.Leu59=) | |
| 11 | g.116836109A>C | CA382715455 | APOA1 | c.503T>G (p.Leu168Arg) c.437T>G (p.Leu146Arg) c.176T>G (p.Leu59Arg) | COSMIC |
| 11 | g.116836109A>G | CA382715459 | APOA1 | c.503T>C (p.Leu168Pro) c.437T>C (p.Leu146Pro) c.176T>C (p.Leu59Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116836109A>T | CA382715456 | APOA1 | c.503T>A (p.Leu168Gln) c.437T>A (p.Leu146Gln) c.176T>A (p.Leu59Gln) | |
| 11 | g.116836110G>A | CA477048705 | APOA1 | c.502C>T (p.Leu168=) c.436C>T (p.Leu146=) c.175C>T (p.Leu59=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116836110G>C | CA6289794 | APOA1 | c.502C>G (p.Leu168Val) c.436C>G (p.Leu146Val) c.175C>G (p.Leu59Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116836110G= | CA2002761902 | APOA1 | c.502C= (p.Leu168=) c.436C= (p.Leu146=) c.175C= (p.Leu59=) | |
| 11 | g.116836110G>T | CA382715464 | APOA1 | c.502C>A (p.Leu168Met) c.436C>A (p.Leu146Met) c.175C>A (p.Leu59Met) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116836111T>A | CA477048706 | APOA1 | c.501A>T (p.Pro167=) c.435A>T (p.Pro145=) c.174A>T (p.Pro58=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116836111T>C | CA477048707 | APOA1 | c.501A>G (p.Pro167=) c.435A>G (p.Pro145=) c.174A>G (p.Pro58=) | |
| 11 | g.116836111T>G | CA477048708 | APOA1 | c.501A>C (p.Pro167=) c.435A>C (p.Pro145=) c.174A>C (p.Pro58=) | gnomAD v4 |
| 11 | g.116836111T= | CA2002761903 | APOA1 | c.501A= (p.Pro167=) c.435A= (p.Pro145=) c.174A= (p.Pro58=) | |
| 11 | g.116836112G>A | CA382715467 | APOA1 | c.500C>T (p.Pro167Leu) c.434C>T (p.Pro145Leu) c.173C>T (p.Pro58Leu) | |
| 11 | g.116836112G>C | CA127540 | APOA1 | c.500C>G (p.Pro167Arg) c.434C>G (p.Pro145Arg) c.173C>G (p.Pro58Arg) | ClinVar dbSNP ExAC gnomAD v4 |
| 11 | g.116836112G= | CA2002761904 | APOA1 | c.500C= (p.Pro167=) c.434C= (p.Pro145=) c.173C= (p.Pro58=) | |
| 11 | g.116836112G>T | CA382715472 | APOA1 | c.500C>A (p.Pro167Gln) c.434C>A (p.Pro145Gln) c.173C>A (p.Pro58Gln) | |
| 11 | g.116836113G>A | CA382715474 | APOA1 | c.499C>T (p.Pro167Ser) c.433C>T (p.Pro145Ser) c.172C>T (p.Pro58Ser) | |
| 11 | g.116836113G>C | CA382715477 | APOA1 | c.499C>G (p.Pro167Ala) c.433C>G (p.Pro145Ala) c.172C>G (p.Pro58Ala) | |
| 11 | g.116836113G>T | CA382715480 | APOA1 | c.499C>A (p.Pro167Thr) c.433C>A (p.Pro145Thr) c.172C>A (p.Pro58Thr) | |
| 11 | g.116836114G>A | CA477048709 | APOA1 | c.498C>T (p.Ser166=) c.432C>T (p.Ser144=) c.171C>T (p.Ser57=) | |
| 11 | g.116836114G>C | CA382715483 | APOA1 | c.498C>G (p.Ser166Arg) c.432C>G (p.Ser144Arg) c.171C>G (p.Ser57Arg) | |
| 11 | g.116836114G= | CA2002761905 | APOA1 | c.498C= (p.Ser166=) c.432C= (p.Ser144=) c.171C= (p.Ser57=) | |
| 11 | g.116836114G>T | CA6289795 | APOA1 | c.498C>A (p.Ser166Arg) c.432C>A (p.Ser144Arg) c.171C>A (p.Ser57Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116836115C>A | CA382715488 | APOA1 | c.497G>T (p.Ser166Ile) c.431G>T (p.Ser144Ile) c.170G>T (p.Ser57Ile) | |
| 11 | g.116836115C= | CA2002761906 | APOA1 | c.497G= (p.Ser166=) c.431G= (p.Ser144=) c.170G= (p.Ser57=) | |
| 11 | g.116836115C>G | CA382715489 | APOA1 | c.497G>C (p.Ser166Thr) c.431G>C (p.Ser144Thr) c.170G>C (p.Ser57Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116836115C>T | CA382715491 | APOA1 | c.497G>A (p.Ser166Asn) c.431G>A (p.Ser144Asn) c.170G>A (p.Ser57Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116836116T>A | CA382715494 | APOA1 | c.496A>T (p.Ser166Cys) c.430A>T (p.Ser144Cys) c.169A>T (p.Ser57Cys) | |
| 11 | g.116836116T>C | CA382715500 | APOA1 | c.496A>G (p.Ser166Gly) c.430A>G (p.Ser144Gly) c.169A>G (p.Ser57Gly) | ClinVar gnomAD v4 |
| 11 | g.116836116T>G | CA382715497 | APOA1 | c.496A>C (p.Ser166Arg) c.430A>C (p.Ser144Arg) c.169A>C (p.Ser57Arg) | |
| 11 | g.116836117C>A | CA477048710 | APOA1,APOA1-AS | c.495G>T (p.Leu165=) c.429G>T (p.Leu143=) n.1C>A c.168G>T (p.Leu56=) | |
| 11 | g.116836117C= | CA2002761907 | APOA1,APOA1-AS | c.495G= (p.Leu165=) c.429G= (p.Leu143=) n.1C= c.168G= (p.Leu56=) | |
| 11 | g.116836117C>G | CA477048711 | APOA1,APOA1-AS | c.495G>C (p.Leu165=) c.429G>C (p.Leu143=) n.1C>G c.168G>C (p.Leu56=) | dbSNP |
| 11 | g.116836117C>T | CA477048712 | APOA1,APOA1-AS | c.495G>A (p.Leu165=) c.429G>A (p.Leu143=) n.1C>T c.168G>A (p.Leu56=) | |
| 11 | g.116836118A= | CA2002761908 | APOA1,APOA1-AS | c.494T= (p.Leu165=) c.428T= (p.Leu143=) n.2A= c.167T= (p.Leu56=) | |
| 11 | g.116836118A>C | CA6289796 | APOA1,APOA1-AS | c.494T>G (p.Leu165Arg) c.428T>G (p.Leu143Arg) n.2A>C c.167T>G (p.Leu56Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116836118A>G | CA382715505 | APOA1,APOA1-AS | c.494T>C (p.Leu165Pro) c.428T>C (p.Leu143Pro) n.2A>G c.167T>C (p.Leu56Pro) | ClinVar gnomAD v4 |
| 11 | g.116836118A>T | CA382715507 | APOA1,APOA1-AS | c.494T>A (p.Leu165Gln) c.428T>A (p.Leu143Gln) n.2A>T c.167T>A (p.Leu56Gln) | |
| 11 | g.116836119G>A | CA477048713 | APOA1,APOA1-AS | c.493C>T (p.Leu165=) c.427C>T (p.Leu143=) n.3G>A c.166C>T (p.Leu56=) | gnomAD v4 |
| 11 | g.116836119G>C | CA382715510 | APOA1,APOA1-AS | c.493C>G (p.Leu165Val) c.427C>G (p.Leu143Val) n.3G>C c.166C>G (p.Leu56Val) | |
| 11 | g.116836119G>T | CA382715512 | APOA1,APOA1-AS | c.493C>A (p.Leu165Met) c.427C>A (p.Leu143Met) n.3G>T c.166C>A (p.Leu56Met) | gnomAD v4 |
| 11 | g.116836120C>A | CA382715514 | APOA1,APOA1-AS | c.492G>T (p.Lys164Asn) c.426G>T (p.Lys142Asn) n.4C>A c.165G>T (p.Lys55Asn) | gnomAD v4 |
| 11 | g.116836120C= | CA2002761909 | APOA1,APOA1-AS | c.492G= (p.Lys164=) c.426G= (p.Lys142=) n.4C= c.165G= (p.Lys55=) | |
| 11 | g.116836120C>G | CA6289797 | APOA1,APOA1-AS | c.492G>C (p.Lys164Asn) c.426G>C (p.Lys142Asn) n.4C>G c.165G>C (p.Lys55Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116836120C>T | CA229324250 | APOA1,APOA1-AS | c.492G>A (p.Lys164=) c.426G>A (p.Lys142=) n.4C>T c.165G>A (p.Lys55=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116836121T>A | CA382715521 | APOA1,APOA1-AS | c.491A>T (p.Lys164Met) c.425A>T (p.Lys142Met) n.5T>A c.164A>T (p.Lys55Met) | |
| 11 | g.116836121T>C | CA382715522 | APOA1,APOA1-AS | c.491A>G (p.Lys164Arg) c.425A>G (p.Lys142Arg) n.5T>C c.164A>G (p.Lys55Arg) | ClinVar |
| 11 | g.116836121T>G | CA382715526 | APOA1,APOA1-AS | c.491A>C (p.Lys164Thr) c.425A>C (p.Lys142Thr) n.5T>G c.164A>C (p.Lys55Thr) | |
| 11 | g.116836122T>A | CA382715531 | APOA1,APOA1-AS | c.490A>T (p.Lys164Ter) c.424A>T (p.Lys142Ter) n.6T>A c.163A>T (p.Lys55Ter) | gnomAD v4 |
| 11 | g.116836122T>C | CA382715534 | APOA1,APOA1-AS | c.490A>G (p.Lys164Glu) c.424A>G (p.Lys142Glu) n.6T>C c.163A>G (p.Lys55Glu) | gnomAD v4 |
| 11 | g.116836122T>G | CA382715528 | APOA1,APOA1-AS | c.490A>C (p.Lys164Gln) c.424A>C (p.Lys142Gln) n.6T>G c.163A>C (p.Lys55Gln) | |
| 11 | g.116836123C>A | CA382715537 | APOA1,APOA1-AS | c.489G>T (p.Glu163Asp) c.423G>T (p.Glu141Asp) n.7C>A c.162G>T (p.Glu54Asp) | |
| 11 | g.116836123C>G | CA382715538 | APOA1,APOA1-AS | c.489G>C (p.Glu163Asp) c.423G>C (p.Glu141Asp) n.7C>G c.162G>C (p.Glu54Asp) | ClinVar |
| 11 | g.116836123C>T | CA477048714 | APOA1,APOA1-AS | c.489G>A (p.Glu163=) c.423G>A (p.Glu141=) n.7C>T c.162G>A (p.Glu54=) | ClinVar |
| 11 | g.116836124T>A | CA382715542 | APOA1,APOA1-AS | c.488A>T (p.Glu163Val) c.422A>T (p.Glu141Val) n.8T>A c.161A>T (p.Glu54Val) | |
| 11 | g.116836124T>C | CA6289798 | APOA1,APOA1-AS | c.488A>G (p.Glu163Gly) c.422A>G (p.Glu141Gly) n.8T>C c.161A>G (p.Glu54Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116836124T>G | CA382715547 | APOA1,APOA1-AS | c.488A>C (p.Glu163Ala) c.422A>C (p.Glu141Ala) n.8T>G c.161A>C (p.Glu54Ala) | |
| 11 | g.116836124T= | CA2002761910 | APOA1,APOA1-AS | c.488A= (p.Glu163=) c.422A= (p.Glu141=) n.8T= c.161A= (p.Glu54=) | |
| 11 | g.116836125C>A | CA382715554 | APOA1,APOA1-AS | c.487G>T (p.Glu163Ter) c.421G>T (p.Glu141Ter) n.9C>A c.160G>T (p.Glu54Ter) | |
| 11 | g.116836125C= | CA2002761911 | APOA1,APOA1-AS | c.487G= (p.Glu163=) c.421G= (p.Glu141=) n.9C= c.160G= (p.Glu54=) | |
| 11 | g.116836125C>G | CA382715557 | APOA1,APOA1-AS | c.487G>C (p.Glu163Gln) c.421G>C (p.Glu141Gln) n.9C>G c.160G>C (p.Glu54Gln) | |
| 11 | g.116836125C>T | CA382715555 | APOA1,APOA1-AS | c.487G>A (p.Glu163Lys) c.421G>A (p.Glu141Lys) n.9C>T c.160G>A (p.Glu54Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116836126T>A | CA382715560 | APOA1,APOA1-AS | c.486A>T (p.Gln162His) c.420A>T (p.Gln140His) n.10T>A c.159A>T (p.Gln53His) | |
| 11 | g.116836126T>C | CA477048715 | APOA1,APOA1-AS | c.486A>G (p.Gln162=) c.420A>G (p.Gln140=) n.10T>C c.159A>G (p.Gln53=) | dbSNP gnomAD v4 |
| 11 | g.116836126T>G | CA382715563 | APOA1,APOA1-AS | c.486A>C (p.Gln162His) c.420A>C (p.Gln140His) n.10T>G c.159A>C (p.Gln53His) | |
| 11 | g.116836126T= | CA2002761912 | APOA1,APOA1-AS | c.486A= (p.Gln162=) c.420A= (p.Gln140=) n.10T= c.159A= (p.Gln53=) | |
| 11 | g.116836126_116836127del | CA2695215585 | APOA1,APOA1-AS | c.485_486del (p.Gln162ArgfsTer?) c.419_420del (p.Gln140ArgfsTer?) n.10_11del c.158_159del (p.Gln53ArgfsTer?) | |
| 11 | g.116836127T>A | CA382715566 | APOA1,APOA1-AS | c.485A>T (p.Gln162Leu) c.419A>T (p.Gln140Leu) n.11T>A c.158A>T (p.Gln53Leu) | |
| 11 | g.116836127T>C | CA382715567 | APOA1,APOA1-AS | c.485A>G (p.Gln162Arg) c.419A>G (p.Gln140Arg) n.11T>C c.158A>G (p.Gln53Arg) | |
| 11 | g.116836127T>G | CA6289799 | APOA1,APOA1-AS | c.485A>C (p.Gln162Pro) c.419A>C (p.Gln140Pro) n.11T>G c.158A>C (p.Gln53Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116836127T= | CA2002761913 | APOA1,APOA1-AS | c.485A= (p.Gln162=) c.419A= (p.Gln140=) n.11T= c.158A= (p.Gln53=) | |
| 11 | g.116836128G>A | CA382715570 | APOA1,APOA1-AS | c.484C>T (p.Gln162Ter) c.418C>T (p.Gln140Ter) n.12G>A c.157C>T (p.Gln53Ter) | |
| 11 | g.116836128G>C | CA382715572 | APOA1,APOA1-AS | c.484C>G (p.Gln162Glu) c.418C>G (p.Gln140Glu) n.12G>C c.157C>G (p.Gln53Glu) | |
| 11 | g.116836128G>T | CA382715574 | APOA1,APOA1-AS | c.484C>A (p.Gln162Lys) c.418C>A (p.Gln140Lys) n.12G>T c.157C>A (p.Gln53Lys) | |
| 11 | g.116836129C>A | CA6289800 | APOA1,APOA1-AS | c.483G>T (p.Leu161=) c.417G>T (p.Leu139=) n.13C>A c.156G>T (p.Leu52=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116836129C= | CA2002761914 | APOA1,APOA1-AS | c.483G= (p.Leu161=) c.417G= (p.Leu139=) n.13C= c.156G= (p.Leu52=) | |
| 11 | g.116836129C>G | CA477048717 | APOA1,APOA1-AS | c.483G>C (p.Leu161=) c.417G>C (p.Leu139=) n.13C>G c.156G>C (p.Leu52=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116836129C>T | CA477048719 | APOA1,APOA1-AS | c.483G>A (p.Leu161=) c.417G>A (p.Leu139=) n.13C>T c.156G>A (p.Leu52=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116836130A>C | CA382715579 | APOA1,APOA1-AS | c.482T>G (p.Leu161Arg) c.416T>G (p.Leu139Arg) n.14A>C c.155T>G (p.Leu52Arg) | |
| 11 | g.116836130A>G | CA382715580 | APOA1,APOA1-AS | c.482T>C (p.Leu161Pro) c.416T>C (p.Leu139Pro) n.14A>G c.155T>C (p.Leu52Pro) | gnomAD v4 |
| 11 | g.116836130A>T | CA382715583 | APOA1,APOA1-AS | c.482T>A (p.Leu161Gln) c.416T>A (p.Leu139Gln) n.14A>T c.155T>A (p.Leu52Gln) | |
| 11 | g.116836131G>A | CA477048722 | APOA1,APOA1-AS | c.481C>T (p.Leu161=) c.415C>T (p.Leu139=) n.15G>A c.154C>T (p.Leu52=) | |
| 11 | g.116836131G>C | CA382715585 | APOA1,APOA1-AS | c.481C>G (p.Leu161Val) c.415C>G (p.Leu139Val) n.15G>C c.154C>G (p.Leu52Val) | gnomAD v4 |
| 11 | g.116836131G= | CA2002761915 | APOA1,APOA1-AS | c.481C= (p.Leu161=) c.415C= (p.Leu139=) n.15G= c.154C= (p.Leu52=) | |
| 11 | g.116836131G>T | CA382715588 | APOA1,APOA1-AS | c.481C>A (p.Leu161Met) c.415C>A (p.Leu139Met) n.15G>T c.154C>A (p.Leu52Met) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116836132C>A | CA6289801 | APOA1,APOA1-AS | c.480G>T (p.Glu160Asp) c.414G>T (p.Glu138Asp) n.16C>A c.153G>T (p.Glu51Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116836132C= | CA2002761916 | APOA1,APOA1-AS | c.480G= (p.Glu160=) c.414G= (p.Glu138=) n.16C= c.153G= (p.Glu51=) | |
| 11 | g.116836132C>G | CA382715592 | APOA1,APOA1-AS | c.480G>C (p.Glu160Asp) c.414G>C (p.Glu138Asp) n.16C>G c.153G>C (p.Glu51Asp) | gnomAD v4 |
| 11 | g.116836132C>T | CA477048723 | APOA1,APOA1-AS | c.480G>A (p.Glu160=) c.414G>A (p.Glu138=) n.16C>T c.153G>A (p.Glu51=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.116836133T>A | CA382715596 | APOA1,APOA1-AS | c.479A>T (p.Glu160Val) c.413A>T (p.Glu138Val) n.17T>A c.152A>T (p.Glu51Val) | |
| 11 | g.116836133T>C | CA382715598 | APOA1,APOA1-AS | c.479A>G (p.Glu160Gly) c.413A>G (p.Glu138Gly) n.17T>C c.152A>G (p.Glu51Gly) | |
| 11 | g.116836133T>G | CA382715601 | APOA1,APOA1-AS | c.479A>C (p.Glu160Ala) c.413A>C (p.Glu138Ala) n.17T>G c.152A>C (p.Glu51Ala) | |
| 11 | g.116836135_116836144del | CA2616112034 | APOA1,APOA1-AS | c.470_479del (p.Lys157SerfsTer6) c.404_413del (p.Lys135SerfsTer6) n.19_28del c.143_152del (p.Lys48SerfsTer6) | gnomAD v4 |
| 11 | g.116836134C>A | CA382715604 | APOA1,APOA1-AS | c.478G>T (p.Glu160Ter) c.412G>T (p.Glu138Ter) n.18C>A c.151G>T (p.Glu51Ter) | |
| 11 | g.116836134C= | CA2002761917 | APOA1,APOA1-AS | c.478G= (p.Glu160=) c.412G= (p.Glu138=) n.18C= c.151G= (p.Glu51=) | |
| 11 | g.116836134C>G | CA6289802 | APOA1,APOA1-AS | c.478G>C (p.Glu160Gln) c.412G>C (p.Glu138Gln) n.18C>G c.151G>C (p.Glu51Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116836134C>T | CA127549 | APOA1,APOA1-AS | c.478G>A (p.Glu160Lys) c.412G>A (p.Glu138Lys) n.18C>T c.151G>A (p.Glu51Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116836135G>A | CA229324280 | APOA1,APOA1-AS | c.477C>T (p.His159=) c.411C>T (p.His137=) n.19G>A c.150C>T (p.His50=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116836135G>C | CA382715610 | APOA1,APOA1-AS | c.477C>G (p.His159Gln) c.411C>G (p.His137Gln) n.19G>C c.150C>G (p.His50Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116836135G= | CA2002761918 | APOA1,APOA1-AS | c.477C= (p.His159=) c.411C= (p.His137=) n.19G= c.150C= (p.His50=) | |
| 11 | g.116836135G>T | CA6289803 | APOA1,APOA1-AS | c.477C>A (p.His159Gln) c.411C>A (p.His137Gln) n.19G>T c.150C>A (p.His50Gln) | ClinVar dbSNP ExAC gnomAD v4 |
| 11 | g.116836136T>A | CA382715618 | APOA1,APOA1-AS | c.476A>T (p.His159Leu) c.410A>T (p.His137Leu) n.20T>A c.149A>T (p.His50Leu) | |
| 11 | g.116836136T>C | CA382715620 | APOA1,APOA1-AS | c.476A>G (p.His159Arg) c.410A>G (p.His137Arg) n.20T>C c.149A>G (p.His50Arg) | gnomAD v4 |
| 11 | g.116836136T>G | CA382715616 | APOA1,APOA1-AS | c.476A>C (p.His159Pro) c.410A>C (p.His137Pro) n.20T>G c.149A>C (p.His50Pro) | |
| 11 | g.116836137G>A | CA382715625 | APOA1,APOA1-AS | c.475C>T (p.His159Tyr) c.409C>T (p.His137Tyr) n.21G>A c.148C>T (p.His50Tyr) | |
| 11 | g.116836137G>C | CA382715626 | APOA1,APOA1-AS | c.475C>G (p.His159Asp) c.409C>G (p.His137Asp) n.21G>C c.148C>G (p.His50Asp) | |
| 11 | g.116836137G>T | CA382715629 | APOA1,APOA1-AS | c.475C>A (p.His159Asn) c.409C>A (p.His137Asn) n.21G>T c.148C>A (p.His50Asn) | |
| 11 | g.116836138C>A | CA477048733 | APOA1,APOA1-AS | c.474G>T (p.Leu158=) c.408G>T (p.Leu136=) n.22C>A c.147G>T (p.Leu49=) | |
| 11 | g.116836138C>G | CA477048735 | APOA1,APOA1-AS | c.474G>C (p.Leu158=) c.408G>C (p.Leu136=) n.22C>G c.147G>C (p.Leu49=) | gnomAD v4 |
| 11 | g.116836138C>T | CA477048734 | APOA1,APOA1-AS | c.474G>A (p.Leu158=) c.408G>A (p.Leu136=) n.22C>T c.147G>A (p.Leu49=) | gnomAD v4 |
| 11 | g.116836139A>C | CA382715633 | APOA1,APOA1-AS | c.473T>G (p.Leu158Arg) c.407T>G (p.Leu136Arg) n.23A>C c.146T>G (p.Leu49Arg) | |
| 11 | g.116836139A>G | CA382715634 | APOA1,APOA1-AS | c.473T>C (p.Leu158Pro) c.407T>C (p.Leu136Pro) n.23A>G c.146T>C (p.Leu49Pro) | gnomAD v4 |
| 11 | g.116836139A>T | CA382715637 | APOA1,APOA1-AS | c.473T>A (p.Leu158Gln) c.407T>A (p.Leu136Gln) n.23A>T c.146T>A (p.Leu49Gln) | |
| 11 | g.116836140G>A | CA477048736 | APOA1,APOA1-AS | c.472C>T (p.Leu158=) c.406C>T (p.Leu136=) n.24G>A c.145C>T (p.Leu49=) | |
| 11 | g.116836140G>C | CA382715640 | APOA1,APOA1-AS | c.472C>G (p.Leu158Val) c.406C>G (p.Leu136Val) n.24G>C c.145C>G (p.Leu49Val) | |
| 11 | g.116836140G>T | CA382715643 | APOA1,APOA1-AS | c.472C>A (p.Leu158Met) c.406C>A (p.Leu136Met) n.24G>T c.145C>A (p.Leu49Met) | |
| 11 | g.116836141C>A | CA382715647 | APOA1,APOA1-AS | c.471G>T (p.Lys157Asn) c.405G>T (p.Lys135Asn) n.25C>A c.144G>T (p.Lys48Asn) | |
| 11 | g.116836141C= | CA2002761919 | APOA1,APOA1-AS | c.471G= (p.Lys157=) c.405G= (p.Lys135=) n.25C= c.144G= (p.Lys48=) | |
| 11 | g.116836141C>G | CA382715649 | APOA1,APOA1-AS | c.471G>C (p.Lys157Asn) c.405G>C (p.Lys135Asn) n.25C>G c.144G>C (p.Lys48Asn) | ClinVar dbSNP gnomAD v4 |
| 11 | g.116836141C>T | CA477048737 | APOA1,APOA1-AS | c.471G>A (p.Lys157=) c.405G>A (p.Lys135=) n.25C>T c.144G>A (p.Lys48=) | |
| 11 | g.116836142T>A | CA382715653 | APOA1,APOA1-AS | c.470A>T (p.Lys157Met) c.404A>T (p.Lys135Met) n.26T>A c.143A>T (p.Lys48Met) | |
| 11 | g.116836142T>C | CA382715654 | APOA1,APOA1-AS | c.470A>G (p.Lys157Arg) c.404A>G (p.Lys135Arg) n.26T>C c.143A>G (p.Lys48Arg) | |
| 11 | g.116836142T>G | CA382715656 | APOA1,APOA1-AS | c.470A>C (p.Lys157Thr) c.404A>C (p.Lys135Thr) n.26T>G c.143A>C (p.Lys48Thr) | |
| 11 | g.116836143T>A | CA382715659 | APOA1,APOA1-AS | c.469A>T (p.Lys157Ter) c.403A>T (p.Lys135Ter) n.27T>A c.142A>T (p.Lys48Ter) | |
| 11 | g.116836143T>C | CA382715663 | APOA1,APOA1-AS | c.469A>G (p.Lys157Glu) c.403A>G (p.Lys135Glu) n.27T>C c.142A>G (p.Lys48Glu) | |
| 11 | g.116836143T>G | CA382715661 | APOA1,APOA1-AS | c.469A>C (p.Lys157Gln) c.403A>C (p.Lys135Gln) n.27T>G c.142A>C (p.Lys48Gln) | |
| 11 | g.116836144C>A | CA382715665 | APOA1,APOA1-AS | c.468G>T (p.Gln156His) c.402G>T (p.Gln134His) n.28C>A c.141G>T (p.Gln47His) | |
| 11 | g.116836144C>G | CA382715667 | APOA1,APOA1-AS | c.468G>C (p.Gln156His) c.402G>C (p.Gln134His) n.28C>G c.141G>C (p.Gln47His) | |
| 11 | g.116836144C>T | CA477048739 | APOA1,APOA1-AS | c.468G>A (p.Gln156=) c.402G>A (p.Gln134=) n.28C>T c.141G>A (p.Gln47=) | |
| 11 | g.116836145T>A | CA382715669 | APOA1,APOA1-AS | c.467A>T (p.Gln156Leu) c.401A>T (p.Gln134Leu) n.29T>A c.140A>T (p.Gln47Leu) | |
| 11 | g.116836145T>C | CA382715670 | APOA1,APOA1-AS | c.467A>G (p.Gln156Arg) c.401A>G (p.Gln134Arg) n.29T>C c.140A>G (p.Gln47Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116836145T>G | CA382715672 | APOA1,APOA1-AS | c.467A>C (p.Gln156Pro) c.401A>C (p.Gln134Pro) n.29T>G c.140A>C (p.Gln47Pro) | |
| 11 | g.116836145T= | CA2002761920 | APOA1,APOA1-AS | c.467A= (p.Gln156=) c.401A= (p.Gln134=) n.29T= c.140A= (p.Gln47=) | |
| 11 | g.116836146G>A | CA382715675 | APOA1,APOA1-AS | c.466C>T (p.Gln156Ter) c.400C>T (p.Gln134Ter) n.30G>A c.139C>T (p.Gln47Ter) | |
| 11 | g.116836146G>C | CA382715676 | APOA1,APOA1-AS | c.466C>G (p.Gln156Glu) c.400C>G (p.Gln134Glu) n.30G>C c.139C>G (p.Gln47Glu) | |
| 11 | g.116836146G>T | CA382715677 | APOA1,APOA1-AS | c.466C>A (p.Gln156Lys) c.400C>A (p.Gln134Lys) n.30G>T c.139C>A (p.Gln47Lys) | |
| 11 | g.116836147G>A | CA477048744 | APOA1,APOA1-AS | c.465C>T (p.Arg155=) c.399C>T (p.Arg133=) n.31G>A c.138C>T (p.Arg46=) | |
| 11 | g.116836147G>C | CA477048745 | APOA1,APOA1-AS | c.465C>G (p.Arg155=) c.399C>G (p.Arg133=) n.31G>C c.138C>G (p.Arg46=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116836147G= | CA2002761921 | APOA1,APOA1-AS | c.465C= (p.Arg155=) c.399C= (p.Arg133=) n.31G= c.138C= (p.Arg46=) | |
| 11 | g.116836147G>T | CA477048743 | APOA1,APOA1-AS | c.465C>A (p.Arg155=) c.399C>A (p.Arg133=) n.31G>T c.138C>A (p.Arg46=) | |
| 11 | g.116836148C>A | CA382715679 | APOA1,APOA1-AS | c.464G>T (p.Arg155Leu) c.398G>T (p.Arg133Leu) n.32C>A c.137G>T (p.Arg46Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116836148C= | CA2002761922 | APOA1,APOA1-AS | c.464G= (p.Arg155=) c.398G= (p.Arg133=) n.32C= c.137G= (p.Arg46=) | |
| 11 | g.116836148C>G | CA382715682 | APOA1,APOA1-AS | c.464G>C (p.Arg155Pro) c.398G>C (p.Arg133Pro) n.32C>G c.137G>C (p.Arg46Pro) | |
| 11 | g.116836148C>T | CA382715683 | APOA1,APOA1-AS | c.464G>A (p.Arg155His) c.398G>A (p.Arg133His) n.32C>T c.137G>A (p.Arg46His) | |
| 11 | g.116836149G>A | CA382715690 | APOA1,APOA1-AS | c.463C>T (p.Arg155Cys) c.397C>T (p.Arg133Cys) n.33G>A c.136C>T (p.Arg46Cys) | dbSNP |
| 11 | g.116836149G>C | CA382715688 | APOA1,APOA1-AS | c.463C>G (p.Arg155Gly) c.397C>G (p.Arg133Gly) n.33G>C c.136C>G (p.Arg46Gly) | |
| 11 | g.116836149G= | CA2002761923 | APOA1,APOA1-AS | c.463C= (p.Arg155=) c.397C= (p.Arg133=) n.33G= c.136C= (p.Arg46=) | |
| 11 | g.116836149G>T | CA382715686 | APOA1,APOA1-AS | c.463C>A (p.Arg155Ser) c.397C>A (p.Arg133Ser) n.33G>T c.136C>A (p.Arg46Ser) | |
| 11 | g.116836150C>A | CA477048747 | APOA1,APOA1-AS | c.462G>T (p.Ala154=) c.396G>T (p.Ala132=) n.34C>A c.135G>T (p.Ala45=) | |
| 11 | g.116836150C= | CA2002761924 | APOA1,APOA1-AS | c.462G= (p.Ala154=) c.396G= (p.Ala132=) n.34C= c.135G= (p.Ala45=) | |
| 11 | g.116836150C>G | CA477048748 | APOA1,APOA1-AS | c.462G>C (p.Ala154=) c.396G>C (p.Ala132=) n.34C>G c.135G>C (p.Ala45=) | |
| 11 | g.116836150C>T | CA477048749 | APOA1,APOA1-AS | c.462G>A (p.Ala154=) c.396G>A (p.Ala132=) n.34C>T c.135G>A (p.Ala45=) | dbSNP gnomAD v4 |
| 11 | g.116836151G>A | CA382715692 | APOA1,APOA1-AS | c.461C>T (p.Ala154Val) c.395C>T (p.Ala132Val) n.35G>A c.134C>T (p.Ala45Val) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116836151G>C | CA382715694 | APOA1,APOA1-AS | c.461C>G (p.Ala154Gly) c.395C>G (p.Ala132Gly) n.35G>C c.134C>G (p.Ala45Gly) | |
| 11 | g.116836151G= | CA2002761925 | APOA1,APOA1-AS | c.461C= (p.Ala154=) c.395C= (p.Ala132=) n.35G= c.134C= (p.Ala45=) | |
| 11 | g.116836151G>T | CA382715695 | APOA1,APOA1-AS | c.461C>A (p.Ala154Glu) c.395C>A (p.Ala132Glu) n.35G>T c.134C>A (p.Ala45Glu) | |
| 11 | g.116836152C>A | CA382715697 | APOA1,APOA1-AS | c.460G>T (p.Ala154Ser) c.394G>T (p.Ala132Ser) n.36C>A c.133G>T (p.Ala45Ser) | |
| 11 | g.116836152C= | CA2002761926 | APOA1,APOA1-AS | c.460G= (p.Ala154=) c.394G= (p.Ala132=) n.36C= c.133G= (p.Ala45=) | |
| 11 | g.116836152C>G | CA382715699 | APOA1,APOA1-AS | c.460G>C (p.Ala154Pro) c.394G>C (p.Ala132Pro) n.36C>G c.133G>C (p.Ala45Pro) | |
| 11 | g.116836152C>T | CA382715701 | APOA1,APOA1-AS | c.460G>A (p.Ala154Thr) c.394G>A (p.Ala132Thr) n.36C>T c.133G>A (p.Ala45Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116836153G>A | CA477048753 | APOA1,APOA1-AS | c.459C>T (p.Gly153=) c.393C>T (p.Gly131=) n.37G>A c.132C>T (p.Gly44=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116836153G>C | CA477048754 | APOA1,APOA1-AS | c.459C>G (p.Gly153=) c.393C>G (p.Gly131=) n.37G>C c.132C>G (p.Gly44=) | gnomAD v4 |
| 11 | g.116836153G= | CA2002761927 | APOA1,APOA1-AS | c.459C= (p.Gly153=) c.393C= (p.Gly131=) n.37G= c.132C= (p.Gly44=) | |
| 11 | g.116836153G>T | CA477048755 | APOA1,APOA1-AS | c.459C>A (p.Gly153=) c.393C>A (p.Gly131=) n.37G>T c.132C>A (p.Gly44=) | dbSNP |
| 11 | g.116836154C>A | CA382715707 | APOA1,APOA1-AS | c.458G>T (p.Gly153Val) c.392G>T (p.Gly131Val) n.38C>A c.131G>T (p.Gly44Val) | |
| 11 | g.116836154C>G | CA382715703 | APOA1,APOA1-AS | c.458G>C (p.Gly153Ala) c.392G>C (p.Gly131Ala) n.38C>G c.131G>C (p.Gly44Ala) | |
| 11 | g.116836154C>T | CA382715705 | APOA1,APOA1-AS | c.458G>A (p.Gly153Asp) c.392G>A (p.Gly131Asp) n.38C>T c.131G>A (p.Gly44Asp) | |
| 11 | g.116836155C>A | CA382715710 | APOA1,APOA1-AS | c.457G>T (p.Gly153Cys) c.391G>T (p.Gly131Cys) n.39C>A c.130G>T (p.Gly44Cys) | |
| 11 | g.116836155C= | CA2002761928 | APOA1,APOA1-AS | c.457G= (p.Gly153=) c.391G= (p.Gly131=) n.39C= c.130G= (p.Gly44=) | |
| 11 | g.116836155C>G | CA382715711 | APOA1,APOA1-AS | c.457G>C (p.Gly153Arg) c.391G>C (p.Gly131Arg) n.39C>G c.130G>C (p.Gly44Arg) | gnomAD v4 |
| 11 | g.116836155C>T | CA382715714 | APOA1,APOA1-AS | c.457G>A (p.Gly153Ser) c.391G>A (p.Gly131Ser) n.39C>T c.130G>A (p.Gly44Ser) | ClinVar dbSNP gnomAD v4 |
| 11 | g.116836156C>A | CA382715715 | APOA1,APOA1-AS | c.456G>T (p.Glu152Asp) c.390G>T (p.Glu130Asp) n.40C>A c.129G>T (p.Glu43Asp) | |
| 11 | g.116836156C= | CA2002761929 | APOA1,APOA1-AS | c.456G= (p.Glu152=) c.390G= (p.Glu130=) n.40C= c.129G= (p.Glu43=) | |
| 11 | g.116836156C>G | CA382715716 | APOA1,APOA1-AS | c.456G>C (p.Glu152Asp) c.390G>C (p.Glu130Asp) n.40C>G c.129G>C (p.Glu43Asp) | gnomAD v4 |
| 11 | g.116836156C>T | CA477048757 | APOA1,APOA1-AS | c.456G>A (p.Glu152=) c.390G>A (p.Glu130=) n.40C>T c.129G>A (p.Glu43=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116836157T>A | CA382715722 | APOA1,APOA1-AS | c.455A>T (p.Glu152Val) c.389A>T (p.Glu130Val) n.41T>A c.128A>T (p.Glu43Val) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116836157T>C | CA382715718 | APOA1,APOA1-AS | c.455A>G (p.Glu152Gly) c.389A>G (p.Glu130Gly) n.41T>C c.128A>G (p.Glu43Gly) | ClinVar dbSNP gnomAD v4 |
| 11 | g.116836157T>G | CA382715720 | APOA1,APOA1-AS | c.455A>C (p.Glu152Ala) c.389A>C (p.Glu130Ala) n.41T>G c.128A>C (p.Glu43Ala) | |
| 11 | g.116836157T= | CA2002761930 | APOA1,APOA1-AS | c.455A= (p.Glu152=) c.389A= (p.Glu130=) n.41T= c.128A= (p.Glu43=) | |
| 11 | g.116836158C>A | CA382715724 | APOA1,APOA1-AS | c.454G>T (p.Glu152Ter) c.388G>T (p.Glu130Ter) n.42C>A c.127G>T (p.Glu43Ter) | |
| 11 | g.116836158C= | CA2002761931 | APOA1,APOA1-AS | c.454G= (p.Glu152=) c.388G= (p.Glu130=) n.42C= c.127G= (p.Glu43=) | |
| 11 | g.116836158C>G | CA382715726 | APOA1,APOA1-AS | c.454G>C (p.Glu152Gln) c.388G>C (p.Glu130Gln) n.42C>G c.127G>C (p.Glu43Gln) | |
| 11 | g.116836158C>T | CA6289804 | APOA1,APOA1-AS | c.454G>A (p.Glu152Lys) c.388G>A (p.Glu130Lys) n.42C>T c.127G>A (p.Glu43Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 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.116836159T>A | CA382715729 | APOA1,APOA1-AS | c.453A>T (p.Gln151His) c.387A>T (p.Gln129His) n.43T>A c.126A>T (p.Gln42His) | |
| 11 | g.116836159T>C | CA6289805 | APOA1,APOA1-AS | c.453A>G (p.Gln151=) c.387A>G (p.Gln129=) n.43T>C c.126A>G (p.Gln42=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.116836159T>G | CA382715731 | APOA1,APOA1-AS | c.453A>C (p.Gln151His) c.387A>C (p.Gln129His) n.43T>G c.126A>C (p.Gln42His) | |
| 11 | g.116836159T= | CA2002761932 | APOA1,APOA1-AS | c.453A= (p.Gln151=) c.387A= (p.Gln129=) n.43T= c.126A= (p.Gln42=) | |
| 11 | g.116836160T>A | CA382715733 | APOA1,APOA1-AS | c.452A>T (p.Gln151Leu) c.386A>T (p.Gln129Leu) n.44T>A c.125A>T (p.Gln42Leu) | |
| 11 | g.116836160T>C | CA382715735 | APOA1,APOA1-AS | c.452A>G (p.Gln151Arg) c.386A>G (p.Gln129Arg) n.44T>C c.125A>G (p.Gln42Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116836160T>G | CA382715737 | APOA1,APOA1-AS | c.452A>C (p.Gln151Pro) c.386A>C (p.Gln129Pro) n.44T>G c.125A>C (p.Gln42Pro) | |
| 11 | g.116836160T= | CA2002761933 | APOA1,APOA1-AS | c.452A= (p.Gln151=) c.386A= (p.Gln129=) n.44T= c.125A= (p.Gln42=) | |
| 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 |