| 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) |