OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.116830247_116836307delinsAGACAGAGGGCCTGAGGCAGGAGATGAGCAAGGATCTGGAGGAGGTGAAGGCCAAGGTGCAGCCCTACCTGGACGACTTCCAGAAGAAGTGGCAGGAGGAGATGGAGCTCTACCGCCAGAAGGTGGAGCCGCTGCGCGCAGAGCTCCAAGAGGGCGCGCGCCAGAAGCTGCACGAGCTGCAAGAGAAGCTGAGCCCACTGGGCGAGGAGATGCGCGACCGCGCGCGCGCCCATGTGGACGCGCTGCGCACGCATCTGGCCCCCTACAGCGACGAGCTGCGCCAGCGCTTGGCCGCGCGCCTTGAGGCTCTCAAGGAGAACGGCGGCGCCAGACTGGCCGAGTACCACGCCAAGGCCACCGAGCATCTGAGCACGCTCAGCGAGAAGGCCAAGCCCGCGCTCGAGGACCTCCGCCAAGGCCTGCTGCCCGTGCTGGAGAGCTTCAAGGTCAGCTTCCTGAGCGCTCTCGAGGAGTACACTAAGAAGCTCAACACCCAGTGAGGCGCCCGCCGCCGCCCCCCTTCCCGGTGCTCAGAATAAACGTTTCCAAAGTGGGAAGCAGCTTCTTTCTTTTGGGAGAATAGAGGGGGGTGCGGGGACATCCGGGGGAGCCCGGGTGGGGCCTTTGGCCCTGGAGCAGGGACTTCCTGCCGGATCTCAACAACTCCGTGCCCAGACTGGACGTCTTAGGGCCAAGATCGACGTTGGAGGACCTGCTGGACGCCTGGCTGCTTACGAGTGAGGGAGTAGAGTCTGCCTTAGCAAGGCTCAAGTAGAAAGGAAGTCACAGCGGACCAGGCAAAGCCACAGACAATCCAAGGCCAGGTGCCCTGAAAGGGGCTCAAACAAGGCCTGCAGCCCTGTCTGAGGCGGGCCAGGAAACAGGGTTGCTTTAGCTGGGAGCAGTGGGTTCCCCGTCCCCAGAGGTGTGTCCGTATAGAGCCTTCTCCAGCCCAGCCGCTGTCAGCGGGGCGGGACGGAGCGGGGCGGCCTCAGGGAGCCAGCCACTGGGATTGGGGTTTGGTCCCGGGTGCAAGTGAAGCGCTTGGAGTTTGCGCCTGTCCTCCTTTACTAATTCAAAAACCTCTCAAACAGACACTTCCCTTTTCTTCTCACAAGGCCAGTATCCCCCTCCCACTACTCCCATCCCGCCCAGAAACAGCCGCGGCTTCCTCAGGCACAGCAGTGGAAGCCAGTCCTCCACCCCCTGCGGCTCCATGCCATGCCACCCCCTCTTTCTGCCAGCCCTGGCAGAAGCTGGCCTGAGTAAGAAAATTCACCACCACCTCTTGCAGGTACATTTTTATTTCCAAGATGCTCTCATATCTGTGCTCTCACTGCATCCTCCCTTCCCCACATCCTGGCTAGATTGCCATCAGACGCAGAGCATGGATGAGGACACTGAAGCCTGGACCTGTGACGTCGCTTGCCCAGTGAACAGCAGGATGGGCTAGGCCGCGCTTTTTAGACCCTGCACCCCTGGCCATCCATGATTATTGAAAAGAGTGCGCGGGTCGGGTGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGTATCACTTCAGGCCAGGAGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATCAGCTGGGCATGGTGGCTTGCACCCGTAATCCCAGCTACTAGGAAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTCACAGTGAGCCGAAATCATGCCACTGCACTCCAGCCTGGGCGACGGAGCAAGACTCCAGCTAAAAAAAAAAAAAAAAAAAAAAGAGTGTGTGGCCTGGCACTCAAGTTCACATGGGTGTGCAGGCATGCCTGTGTATTCTCACATGACCTCCCTGCTCACGGTCCCTCCTTGCACTCATGTCTGAATGTCCCCGCGTGCACGCACATGGCTTCACAGATCTGGGCAGTGCCTTCCCTACCCTCTCTCTGCAGGGCCTTTTGCCCCCTCATGCAGGCCCCTGGATAATCGGCCCCATCCCCATGTCCCCATCTCCAGTGTATCTTAGCTACCCTAGGTAAAGGAGTGGGCTTTTTAGTTCCTAACCTTCCAGAGCTACAACAGCAGTCATCCAGCCAGGTCTGGGTGGGAACATTTTCTAGATACGGGTGCTGAGATCTCTCAGCCCAGAGAGAAGCCCTGGGGAATTTTCAGAGAGAAAGCAGTCTCCAGGTGGGGCTGGATGTACTGATGCCACTGAGATCTGTAAAGGAGTCCCTAACACCTGACATAGGAGTGACAAAACTGTTTTCTGCACCAACTGAGCAGAATACACGCAGCTGACCTGGGCTCAAGGTCTGGCCCTGCCACGTGCTGGCTCTGTGATGCTGGCCAAGTGCCTTCGCCTCTCCGGGCCACAGTTTTTTGATCTGAAGAGTGGAGCCCTACTCAAGCCATCTGCAGCTCTCGGGCTCTCTGACCTGACATCTTTCGGGTGGTGGGGACACAAAGGAAGCAGCCTCTATTGGGAGACCTTGTGCTTCTTTTTGGTCCCAGGACACTGCCCCCCACCACTCCAGTCCGGGTCCCAAGGGCCCAGTCAGCTCAACTGTAATCATGACAACATTGATCAAGCATCTTTACGTGCAGGTGCTGTGCCAAACGGTTCGAACGCTCTCTCATTTCAATCTCACGGCAAACCTACGGTGGAGGGGGTACGGTTGTATCCACTTTACATGTAAGAAACTGAGGCTGATATCAAGTGGTGGAGCCAAGAATAGTGCCTCGTTGCATCTTACTCCAACCTCTAGCCCATCCGGCCTCCTCCCTTCACGTGCGCCTAAGAGGGCTAGGGGGCCTGGATAGGGGAGGTCAGCTCCACAGTTTTGAGTAAACACACACAGTCTCAACTCTGATGACAACTTAAGTGCCAGGCATAGTGGCTGGCATGGGGCACACACTCAAGTCATGTTGTGCAGCACCTAACAGTTTATCAAAGTATCAGCAAACTTATTGTCCTGTTTGACCTTCCGCACAAAGCTGTCAAGGAAGGCAGGGTACGGAGGGTGATTCCTACCTTAGAGATGAAGAAACTGAGGCCCAGAGACTGCCCAGCTACCAGAAGGTGGATAGAGCGCTGGCCTCCATGCCTGCCTGACCTGGAGTCTGTCCAGTGCCCACCCACAGAACAGCCTCGGCCCTTTCCCATGCCCAGACACAGATGGCACACTTGCGACGGCCCACTCATAGCAGCTTCTTGTCCAGCTTTATTGGGAGGCCAGCATGCCTGGAGGGGGGCCAGGCATGAGGTGGGGTAGGAGAGCACTGAGAATACTGTCCCTTTTAAGCAACCTACAGGGGCAGCCCTGGAGATTGCAGGACCCAAGGAGCTCGCAGGATGGATAGGCAGGTGGACTTGGGGTATTGAGGTCTCAGGCAGCCACGGCTGAAGTTGGTCTGACCTCAGGGTCCAAATCCCAGAACTCAGAGAACTTGTCCTTAACGGTGCTCCAGTAGTCTTTCAGGGAACTGAAGCCATCGGTCACCCAGCCCCTAAATCAGTCAGGGGAAGCAACAGAGCAGGGCATGAGAACTCCTCTGTAGGCAACCATGGGACCCACACCCATGTCCCCACTGGACGACACCAGTCAGGACCACACCACCCTCTCAACTTCACTGGACGACAGCCCTGAGACCTCAGGCAGGAATCCCCCACAGCTGCCACCCTGGGAGAAGAGATATCCTTGCAGGAACCCCAGCACAAGTCAAACCCTGCCATCTCCAGGTCACCTCAGATGTTTATGCCCCTGGGCCTGAGGCACAAAGTGACAGGGTGGGGAGATGTGAAAGGTCAAGGCTGTCATTGTTTTCTGTGCAAACAGCACCGCCTGGAGTTGCACAACCTGGTGGCTCTGAGCAGGGTAGGACAGAGGGAGGCAGCCTCTCATTTGGAAAGTCATTGGAGGATTGATTAGTTGTGTGATCTGGGGCAGGTCACCTAATCGCTCTGAGCCTCAATTTTCTCATCTGCAAAGTGAGAAAATAACACCTACCCCAAAGCCGGTTCTGGGGACTAAGAATGTTTATGAACACCTCTGCTATGCCAGCTAATGCCAGTCAGGGTGAGGTGGAGAAGGGAGTAGGGGAGAGGAGAGTACTGATGGGCAGGGGCAGGATGGGAGAGGAAGGACACACTTCTGCTCACACTGGCCCCAGGTCTTAGAACAAAGCAGAAGCACTCACGGGCTTGAATTGGGTCAGGTGGGGCCTCCCAAGGCAAACCCCTAGCCCAGGGGTCCCCAACCCCCAAGTCATAGATAGGTACTGGTCCATGGACTGTTAGGAGCCGGGCTGCACAGCACGAAGTGAGTGGTGGGTGAGTGAGCAATACCGCCTGAGCTCCGCCTCCTGTCAGATCAAGTGGCCTTACATTCTCATAGGAGTGTGAACCCTATTGTGAACTGCACATGCCAGGGATCTAGGTGGAGGGCTCCTTATGAGAATCTAATGCCTGATGATCTGAGGTGGAACAGCTTCATCCCAAAACCATCCCCGCTGGCCCATGGAAAAATTGTCCACCACAAAACTGGTCCCTGGTGCCAAAAAGGCTGAGGACCACTGCTCTAGCCAGACCTTCAGAAAAGGAAAATGGGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCCCCTGAGGTCAGGAATTCAAGACCAACCTGGCCAACATGGTGAAACCCCATCTCTGCTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGGTTGAACCCGGGAGACGGAGGTTGCAGTGAGCCGAGATGGCACCACTGCACTCCAGCCTAGGTGACAGAGGGAGACTCCATTAAAAAAAAAAGAAGAAGAAAGAAAGAGAGAAAGGAAGAGAGGGAAAGAAAGAAAAAGGAAAGAAAGAAAGAAAGAGAAAGAAAGGAAAGAAAGAAAGAAAGGAAAGAAAGAAAGGAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAATAGAAAGAGAAAGAAAGGGAAAGGAAAGGAAAATGGAAATGAGGGCTAAAACGGCACGCCCTAGGACTGCTCCGGGGAGAAAGGAGGGACCTGGGAGGAATGCAGTCTCAACTCTGTCATCTCTCCCGCAGCAGCCTGACAAAGGCCCTGTGAGGAAAGAGGAGGCTGAAGAGGCACAGGCCCAGGGGAGGCTGGAGCACCTCCATTCCATTGTTGGGATCTCACCAGGGCAGGGGCGGGTGGGAATGGAGGCAGCTGGCAGGGGGGATGGGGAGGGAGGCCAGCGGGTGTACCTGGCCTGCTGGGCCACCTGGGACTCCTGCACGCTGCTCAGTGCATCCTTGGCGGTCTTGGTGGCGTGCTTCATGTAACCCTGCATGAAGCTGAGAAGGGAGGCATCCTCGGCCTCTGAAGCTCCTGAGGAAAGAGCAGGGCTGAGTGGGGTGGATCGGCCTCTGGACGAGCCCTGGGCTCCTGCTTGACCACCCATTGGGACTGGGATCCCCAAGTTGCCTCCACCCTGCCCCCAGCCCAGTCCCACCAAGTGCTTACGGGCAGAGGCCAGGAGCGCCAGGAGGGCAACAACAAGGAGTACCCGGGGCTGCATGGCACCTCTGTTCCTGCAAGGAAGTGTCCTGTGAGGGGCACCCCAGGTCCCCATGCCTCTGGACCCCTCCCTGGGGAGGTGGCGTGGCCCCTAAGGTAGAACCTTAGCTGGGTCTGCCAGAAGGAGTAGGGGCCGGCTCCCTGCTAATACGGGCTCTCAGAAGGGGGACTGGTGAGGGGCGAGGGATCGAGGCCCAAAGGGAGGTGGGTGGGATGGAGCAGAAAACCCACCAGACTGAACATCAAGGCACCTGCGGTCTGGACTGATCTCCGTCCAGTCCAGCCAACATGCTGTGTGTCTTTGGGTGATTTCTGGCCCTCTCCAGGCCTCAGTTTC | CA2697558960 | ClinVar | ||
| 11 | g.116835854_116835892delinsAAGCTGACCTTGAAGCTCTCCAGCACGGGCAGCAGGCCT | CA2002761762 | APOA1 | c.720_758delinsAGGCCTGCTGCCCGTGCTGGAGAGCTTCAAGGTCAGCTT (p.Gln240=) c.654_692delinsAGGCCTGCTGCCCGTGCTGGAGAGCTTCAAGGTCAGCTT (p.Gln218=) c.393_431delinsAGGCCTGCTGCCCGTGCTGGAGAGCTTCAAGGTCAGCTT (p.Gln131=) | |
| 11 | g.116835855_116835892del | CA918975668 | APOA1 | c.720_757del (p.Gln240HisfsTer10) c.654_691del (p.Gln218HisfsTer10) c.393_430del (p.Gln131HisfsTer10) | dbSNP gnomAD v4 |
| 11 | g.116835873C>A | CA382714057 | APOA1 | c.739G>T (p.Glu247Ter) c.673G>T (p.Glu225Ter) c.412G>T (p.Glu138Ter) | |
| 11 | g.116835873C>G | CA382714061 | APOA1 | c.739G>C (p.Glu247Gln) c.673G>C (p.Glu225Gln) c.412G>C (p.Glu138Gln) | |
| 11 | g.116835873C>T | CA382714053 | APOA1 | c.739G>A (p.Glu247Lys) c.673G>A (p.Glu225Lys) c.412G>A (p.Glu138Lys) | |
| 11 | g.116835874C>A | CA477048539 | APOA1 | c.738G>T (p.Leu246=) c.672G>T (p.Leu224=) c.411G>T (p.Leu137=) | |
| 11 | g.116835874C>G | CA477048540 | APOA1 | c.738G>C (p.Leu246=) c.672G>C (p.Leu224=) c.411G>C (p.Leu137=) | |
| 11 | g.116835874C>T | CA477048541 | APOA1 | c.738G>A (p.Leu246=) c.672G>A (p.Leu224=) c.411G>A (p.Leu137=) | |
| 11 | g.116835875A>C | CA382714086 | APOA1 | c.737T>G (p.Leu246Arg) c.671T>G (p.Leu224Arg) c.410T>G (p.Leu137Arg) | |
| 11 | g.116835875A>G | CA382714067 | APOA1 | c.737T>C (p.Leu246Pro) c.671T>C (p.Leu224Pro) c.410T>C (p.Leu137Pro) | |
| 11 | g.116835875A>T | CA382714081 | APOA1 | c.737T>A (p.Leu246Gln) c.671T>A (p.Leu224Gln) c.410T>A (p.Leu137Gln) | |
| 11 | g.116835876G>A | CA477048542 | APOA1 | c.736C>T (p.Leu246=) c.670C>T (p.Leu224=) c.409C>T (p.Leu137=) | COSMIC |
| 11 | g.116835876G>C | CA382714090 | APOA1 | c.736C>G (p.Leu246Val) c.670C>G (p.Leu224Val) c.409C>G (p.Leu137Val) | gnomAD v4 |
| 11 | g.116835876G>T | CA382714093 | APOA1 | c.736C>A (p.Leu246Met) c.670C>A (p.Leu224Met) c.409C>A (p.Leu137Met) | |
| 11 | g.116835877C>A | CA477048544 | APOA1 | c.735G>T (p.Val245=) c.669G>T (p.Val223=) c.408G>T (p.Val136=) | |
| 11 | g.116835877C= | CA2002761767 | APOA1 | c.735G= (p.Val245=) c.669G= (p.Val223=) c.408G= (p.Val136=) | |
| 11 | g.116835877C>G | CA6289747 | APOA1 | c.735G>C (p.Val245=) c.669G>C (p.Val223=) c.408G>C (p.Val136=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116835877C>T | CA477048543 | APOA1 | c.735G>A (p.Val245=) c.669G>A (p.Val223=) c.408G>A (p.Val136=) | gnomAD v4 |
| 11 | g.116835878A>C | CA382714121 | APOA1 | c.734T>G (p.Val245Gly) c.668T>G (p.Val223Gly) c.407T>G (p.Val136Gly) | |
| 11 | g.116835878A>G | CA382714128 | APOA1 | c.734T>C (p.Val245Ala) c.668T>C (p.Val223Ala) c.407T>C (p.Val136Ala) | |
| 11 | g.116835878A>T | CA382714131 | APOA1 | c.734T>A (p.Val245Glu) c.668T>A (p.Val223Glu) c.407T>A (p.Val136Glu) | |
| 11 | g.116835879C>A | CA382714132 | APOA1 | c.733G>T (p.Val245Leu) c.667G>T (p.Val223Leu) c.406G>T (p.Val136Leu) | gnomAD v4 |
| 11 | g.116835879C>G | CA382714133 | APOA1 | c.733G>C (p.Val245Leu) c.667G>C (p.Val223Leu) c.406G>C (p.Val136Leu) | |
| 11 | g.116835879C>T | CA382714134 | APOA1 | c.733G>A (p.Val245Met) c.667G>A (p.Val223Met) c.406G>A (p.Val136Met) | gnomAD v4 |
| 11 | g.116835880G>A | CA477048545 | APOA1 | c.732C>T (p.Pro244=) c.666C>T (p.Pro222=) c.405C>T (p.Pro135=) | ClinVar gnomAD v4 |
| 11 | g.116835880G>C | CA6289748 | APOA1 | c.732C>G (p.Pro244=) c.666C>G (p.Pro222=) c.405C>G (p.Pro135=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116835880G= | CA2002761768 | APOA1 | c.732C= (p.Pro244=) c.666C= (p.Pro222=) c.405C= (p.Pro135=) | |
| 11 | g.116835880G>T | CA477048546 | APOA1 | c.732C>A (p.Pro244=) c.666C>A (p.Pro222=) c.405C>A (p.Pro135=) | dbSNP |
| 11 | g.116835881G>A | CA382714146 | APOA1 | c.731C>T (p.Pro244Leu) c.665C>T (p.Pro222Leu) c.404C>T (p.Pro135Leu) | |
| 11 | g.116835881G>C | CA382714141 | APOA1 | c.731C>G (p.Pro244Arg) c.665C>G (p.Pro222Arg) c.404C>G (p.Pro135Arg) | |
| 11 | g.116835881G>T | CA382714145 | APOA1 | c.731C>A (p.Pro244His) c.665C>A (p.Pro222His) c.404C>A (p.Pro135His) | |
| 11 | g.116835882G>A | CA382714147 | APOA1 | c.730C>T (p.Pro244Ser) c.664C>T (p.Pro222Ser) c.403C>T (p.Pro135Ser) | gnomAD v4 |
| 11 | g.116835882G>C | CA382714148 | APOA1 | c.730C>G (p.Pro244Ala) c.664C>G (p.Pro222Ala) c.403C>G (p.Pro135Ala) | |
| 11 | g.116835882G>T | CA382714149 | APOA1 | c.730C>A (p.Pro244Thr) c.664C>A (p.Pro222Thr) c.403C>A (p.Pro135Thr) | |
| 11 | g.116835883C>A | CA477048547 | APOA1 | c.729G>T (p.Leu243=) c.663G>T (p.Leu221=) c.402G>T (p.Leu134=) | |
| 11 | g.116835883C>G | CA477048549 | APOA1 | c.729G>C (p.Leu243=) c.663G>C (p.Leu221=) c.402G>C (p.Leu134=) | |
| 11 | g.116835883C>T | CA477048548 | APOA1 | c.729G>A (p.Leu243=) c.663G>A (p.Leu221=) c.402G>A (p.Leu134=) | |
| 11 | g.116835884A= | CA2002761769 | APOA1 | c.728T= (p.Leu243=) c.662T= (p.Leu221=) c.401T= (p.Leu134=) | |
| 11 | g.116835884A>C | CA382714155 | APOA1 | c.728T>G (p.Leu243Arg) c.662T>G (p.Leu221Arg) c.401T>G (p.Leu134Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116835884A>G | CA382714158 | APOA1 | c.728T>C (p.Leu243Pro) c.662T>C (p.Leu221Pro) c.401T>C (p.Leu134Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116835884A>T | CA382714164 | APOA1 | c.728T>A (p.Leu243Gln) c.662T>A (p.Leu221Gln) c.401T>A (p.Leu134Gln) | |
| 11 | g.116835885G>A | CA477048550 | APOA1 | c.727C>T (p.Leu243=) c.661C>T (p.Leu221=) c.400C>T (p.Leu134=) | |
| 11 | g.116835885G>C | CA6289749 | APOA1 | c.727C>G (p.Leu243Val) c.661C>G (p.Leu221Val) c.400C>G (p.Leu134Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116835885G= | CA2002761770 | APOA1 | c.727C= (p.Leu243=) c.661C= (p.Leu221=) c.400C= (p.Leu134=) | |
| 11 | g.116835885G>T | CA382714172 | APOA1 | c.727C>A (p.Leu243Met) c.661C>A (p.Leu221Met) c.400C>A (p.Leu134Met) | |
| 11 | g.116835886C>A | CA477048551 | APOA1 | c.726G>T (p.Leu242=) c.660G>T (p.Leu220=) c.399G>T (p.Leu133=) | |
| 11 | g.116835886C= | CA2002761771 | APOA1 | c.726G= (p.Leu242=) c.660G= (p.Leu220=) c.399G= (p.Leu133=) | |
| 11 | g.116835886C>G | CA6289750 | APOA1 | c.726G>C (p.Leu242=) c.660G>C (p.Leu220=) c.399G>C (p.Leu133=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116835886C>T | CA477048552 | APOA1 | c.726G>A (p.Leu242=) c.660G>A (p.Leu220=) c.399G>A (p.Leu133=) | |
| 11 | g.116835887A>C | CA382714180 | APOA1 | c.725T>G (p.Leu242Arg) c.659T>G (p.Leu220Arg) c.398T>G (p.Leu133Arg) | gnomAD v4 |
| 11 | g.116835887A>G | CA382714183 | APOA1 | c.725T>C (p.Leu242Pro) c.659T>C (p.Leu220Pro) c.398T>C (p.Leu133Pro) | |
| 11 | g.116835887A>T | CA382714186 | APOA1 | c.725T>A (p.Leu242Gln) c.659T>A (p.Leu220Gln) c.398T>A (p.Leu133Gln) | |
| 11 | g.116835888G>A | CA477048553 | APOA1 | c.724C>T (p.Leu242=) c.658C>T (p.Leu220=) c.397C>T (p.Leu133=) | |
| 11 | g.116835888G>C | CA382714191 | APOA1 | c.724C>G (p.Leu242Val) c.658C>G (p.Leu220Val) c.397C>G (p.Leu133Val) | |
| 11 | g.116835888G= | CA2002761772 | APOA1 | c.724C= (p.Leu242=) c.658C= (p.Leu220=) c.397C= (p.Leu133=) | |
| 11 | g.116835888G>T | CA6289751 | APOA1 | c.724C>A (p.Leu242Met) c.658C>A (p.Leu220Met) c.397C>A (p.Leu133Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116835889G>A | CA477048554 | APOA1 | c.723C>T (p.Gly241=) c.657C>T (p.Gly219=) c.396C>T (p.Gly132=) | dbSNP gnomAD v4 |
| 11 | g.116835889G>C | CA477048555 | APOA1 | c.723C>G (p.Gly241=) c.657C>G (p.Gly219=) c.396C>G (p.Gly132=) | |
| 11 | g.116835889G= | CA2002761773 | APOA1 | c.723C= (p.Gly241=) c.657C= (p.Gly219=) c.396C= (p.Gly132=) | |
| 11 | g.116835889G>T | CA477048556 | APOA1 | c.723C>A (p.Gly241=) c.657C>A (p.Gly219=) c.396C>A (p.Gly132=) | |
| 11 | g.116835890C>A | CA382714195 | APOA1 | c.722G>T (p.Gly241Val) c.656G>T (p.Gly219Val) c.395G>T (p.Gly132Val) | |
| 11 | g.116835890C>G | CA382714198 | APOA1 | c.722G>C (p.Gly241Ala) c.656G>C (p.Gly219Ala) c.395G>C (p.Gly132Ala) | gnomAD v4 |
| 11 | g.116835890C>T | CA382714201 | APOA1 | c.722G>A (p.Gly241Asp) c.656G>A (p.Gly219Asp) c.395G>A (p.Gly132Asp) | |
| 11 | g.116835891C>A | CA382714203 | APOA1 | c.721G>T (p.Gly241Cys) c.655G>T (p.Gly219Cys) c.394G>T (p.Gly132Cys) | |
| 11 | g.116835891C>G | CA382714205 | APOA1 | c.721G>C (p.Gly241Arg) c.655G>C (p.Gly219Arg) c.394G>C (p.Gly132Arg) | |
| 11 | g.116835891C>T | CA382714208 | APOA1 | c.721G>A (p.Gly241Ser) c.655G>A (p.Gly219Ser) c.394G>A (p.Gly132Ser) | gnomAD v4 |
| 11 | g.116835892T>A | CA382714217 | APOA1 | c.720A>T (p.Gln240His) c.654A>T (p.Gln218His) c.393A>T (p.Gln131His) | |
| 11 | g.116835892T>C | CA229323897 | APOA1 | c.720A>G (p.Gln240=) c.654A>G (p.Gln218=) c.393A>G (p.Gln131=) | dbSNP gnomAD v4 |
| 11 | g.116835892T>G | CA382714211 | APOA1 | c.720A>C (p.Gln240His) c.654A>C (p.Gln218His) c.393A>C (p.Gln131His) | |
| 11 | g.116835892T= | CA2002761774 | APOA1 | c.720A= (p.Gln240=) c.654A= (p.Gln218=) c.393A= (p.Gln131=) | |
| 11 | g.116835893T>A | CA382714220 | APOA1 | c.719A>T (p.Gln240Leu) c.653A>T (p.Gln218Leu) c.392A>T (p.Gln131Leu) | |
| 11 | g.116835893T>C | CA382714223 | APOA1 | c.719A>G (p.Gln240Arg) c.653A>G (p.Gln218Arg) c.392A>G (p.Gln131Arg) | |
| 11 | g.116835893T>G | CA382714230 | APOA1 | c.719A>C (p.Gln240Pro) c.653A>C (p.Gln218Pro) c.392A>C (p.Gln131Pro) | |
| 11 | g.116835894G>A | CA382714234 | APOA1 | c.718C>T (p.Gln240Ter) c.652C>T (p.Gln218Ter) c.391C>T (p.Gln131Ter) | |
| 11 | g.116835894G>C | CA382714236 | APOA1 | c.718C>G (p.Gln240Glu) c.652C>G (p.Gln218Glu) c.391C>G (p.Gln131Glu) | |
| 11 | g.116835894G= | CA2002761775 | APOA1 | c.718C= (p.Gln240=) c.652C= (p.Gln218=) c.391C= (p.Gln131=) | |
| 11 | g.116835894G>T | CA382714241 | APOA1 | c.718C>A (p.Gln240Lys) c.652C>A (p.Gln218Lys) c.391C>A (p.Gln131Lys) | dbSNP |
| 11 | g.116835895G>A | CA477048557 | APOA1 | c.717C>T (p.Arg239=) c.651C>T (p.Arg217=) c.390C>T (p.Arg130=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116835895G>C | CA477048558 | APOA1 | c.717C>G (p.Arg239=) c.651C>G (p.Arg217=) c.390C>G (p.Arg130=) | |
| 11 | g.116835895G= | CA2002761776 | APOA1 | c.717C= (p.Arg239=) c.651C= (p.Arg217=) c.390C= (p.Arg130=) | |
| 11 | g.116835895G>T | CA477048559 | APOA1 | c.717C>A (p.Arg239=) c.651C>A (p.Arg217=) c.390C>A (p.Arg130=) | |
| 11 | g.116835896C>A | CA382714244 | APOA1 | c.716G>T (p.Arg239Leu) c.650G>T (p.Arg217Leu) c.389G>T (p.Arg130Leu) | dbSNP |
| 11 | g.116835896C= | CA2002761778 | APOA1 | c.716G= (p.Arg239=) c.650G= (p.Arg217=) c.389G= (p.Arg130=) | |
| 11 | g.116835896C>G | CA382714250 | APOA1 | c.716G>C (p.Arg239Pro) c.650G>C (p.Arg217Pro) c.389G>C (p.Arg130Pro) | |
| 11 | g.116835896C>T | CA382714247 | APOA1 | c.716G>A (p.Arg239His) c.650G>A (p.Arg217His) c.389G>A (p.Arg130His) | |
| 11 | g.116835896_116835899delinsCGGA | CA2002761777 | APOA1 | c.713_716delinsTCCG (p.Leu238=) c.647_650delinsTCCG (p.Leu216=) c.386_389delinsTCCG (p.Leu129=) | |
| 11 | g.116835897G>A | CA382714255 | APOA1 | c.715C>T (p.Arg239Cys) c.649C>T (p.Arg217Cys) c.388C>T (p.Arg130Cys) | |
| 11 | g.116835897G>C | CA382714264 | APOA1 | c.715C>G (p.Arg239Gly) c.649C>G (p.Arg217Gly) c.388C>G (p.Arg130Gly) | |
| 11 | g.116835897G>T | CA382714267 | APOA1 | c.715C>A (p.Arg239Ser) c.649C>A (p.Arg217Ser) c.388C>A (p.Arg130Ser) | |
| 11 | g.116835899_116835901del | CA6289752 | APOA1 | c.713_715del (p.Leu238del) c.647_649del (p.Leu216del) c.386_388del (p.Leu129del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116835898G>A | CA477048560 | APOA1 | c.714C>T (p.Leu238=) c.648C>T (p.Leu216=) c.387C>T (p.Leu129=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116835898G>C | CA477048561 | APOA1 | c.714C>G (p.Leu238=) c.648C>G (p.Leu216=) c.387C>G (p.Leu129=) | dbSNP gnomAD v2 |
| 11 | g.116835898G= | CA2002761779 | APOA1 | c.714C= (p.Leu238=) c.648C= (p.Leu216=) c.387C= (p.Leu129=) | |
| 11 | g.116835898G>T | CA477048562 | APOA1 | c.714C>A (p.Leu238=) c.648C>A (p.Leu216=) c.387C>A (p.Leu129=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116835899A= | CA2002761780 | APOA1 | c.713T= (p.Leu238=) c.647T= (p.Leu216=) c.386T= (p.Leu129=) | |
| 11 | g.116835899A>C | CA382714273 | APOA1 | c.713T>G (p.Leu238Arg) c.647T>G (p.Leu216Arg) c.386T>G (p.Leu129Arg) | |
| 11 | g.116835899A>G | CA6289753 | APOA1 | c.713T>C (p.Leu238Pro) c.647T>C (p.Leu216Pro) c.386T>C (p.Leu129Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116835899A>T | CA382714277 | APOA1 | c.713T>A (p.Leu238His) c.647T>A (p.Leu216His) c.386T>A (p.Leu129His) | |
| 11 | g.116835900G>A | CA382714280 | APOA1 | c.712C>T (p.Leu238Phe) c.646C>T (p.Leu216Phe) c.385C>T (p.Leu129Phe) | |
| 11 | g.116835900G>C | CA382714283 | APOA1 | c.712C>G (p.Leu238Val) c.646C>G (p.Leu216Val) c.385C>G (p.Leu129Val) | |
| 11 | g.116835900G= | CA2002761781 | APOA1 | c.712C= (p.Leu238=) c.646C= (p.Leu216=) c.385C= (p.Leu129=) | |
| 11 | g.116835900G>T | CA382714286 | APOA1 | c.712C>A (p.Leu238Ile) c.646C>A (p.Leu216Ile) c.385C>A (p.Leu129Ile) | dbSNP gnomAD v4 |
| 11 | g.116835901G>A | CA477048563 | APOA1 | c.711C>T (p.Asp237=) c.645C>T (p.Asp215=) c.384C>T (p.Asp128=) | ClinVar gnomAD v4 |
| 11 | g.116835901G>C | CA382714287 | APOA1 | c.711C>G (p.Asp237Glu) c.645C>G (p.Asp215Glu) c.384C>G (p.Asp128Glu) | |
| 11 | g.116835901G>T | CA382714288 | APOA1 | c.711C>A (p.Asp237Glu) c.645C>A (p.Asp215Glu) c.384C>A (p.Asp128Glu) | |
| 11 | g.116835902T>A | CA382714292 | APOA1 | c.710A>T (p.Asp237Val) c.644A>T (p.Asp215Val) c.383A>T (p.Asp128Val) | |
| 11 | g.116835902T>C | CA382714298 | APOA1 | c.710A>G (p.Asp237Gly) c.644A>G (p.Asp215Gly) c.383A>G (p.Asp128Gly) | |
| 11 | g.116835902T>G | CA382714290 | APOA1 | c.710A>C (p.Asp237Ala) c.644A>C (p.Asp215Ala) c.383A>C (p.Asp128Ala) | |
| 11 | g.116835903C>A | CA382714305 | APOA1 | c.709G>T (p.Asp237Tyr) c.643G>T (p.Asp215Tyr) c.382G>T (p.Asp128Tyr) | gnomAD v4 |
| 11 | g.116835903C>G | CA382714302 | APOA1 | c.709G>C (p.Asp237His) c.643G>C (p.Asp215His) c.382G>C (p.Asp128His) | |
| 11 | g.116835903C>T | CA382714308 | APOA1 | c.709G>A (p.Asp237Asn) c.643G>A (p.Asp215Asn) c.382G>A (p.Asp128Asn) | |
| 11 | g.116835904C>A | CA382714311 | APOA1 | c.708G>T (p.Glu236Asp) c.642G>T (p.Glu214Asp) c.381G>T (p.Glu127Asp) | |
| 11 | g.116835904C>G | CA382714312 | APOA1 | c.708G>C (p.Glu236Asp) c.642G>C (p.Glu214Asp) c.381G>C (p.Glu127Asp) | |
| 11 | g.116835904C>T | CA477048564 | APOA1 | c.708G>A (p.Glu236=) c.642G>A (p.Glu214=) c.381G>A (p.Glu127=) | |
| 11 | g.116835905T>A | CA382714317 | APOA1 | c.707A>T (p.Glu236Val) c.641A>T (p.Glu214Val) c.380A>T (p.Glu127Val) | |
| 11 | g.116835905T>C | CA382714320 | APOA1 | c.707A>G (p.Glu236Gly) c.641A>G (p.Glu214Gly) c.380A>G (p.Glu127Gly) | |
| 11 | g.116835905T>G | CA382714322 | APOA1 | c.707A>C (p.Glu236Ala) c.641A>C (p.Glu214Ala) c.380A>C (p.Glu127Ala) | |
| 11 | g.116835906C>A | CA382714325 | APOA1 | c.706G>T (p.Glu236Ter) c.640G>T (p.Glu214Ter) c.379G>T (p.Glu127Ter) | |
| 11 | g.116835906C= | CA2002761782 | APOA1 | c.706G= (p.Glu236=) c.640G= (p.Glu214=) c.379G= (p.Glu127=) | |
| 11 | g.116835906C>G | CA382714328 | APOA1 | c.706G>C (p.Glu236Gln) c.640G>C (p.Glu214Gln) c.379G>C (p.Glu127Gln) | dbSNP |
| 11 | g.116835906C>T | CA6289754 | APOA1 | c.706G>A (p.Glu236Lys) c.640G>A (p.Glu214Lys) c.379G>A (p.Glu127Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116835907G>A | CA477048565 | APOA1 | c.705C>T (p.Leu235=) c.639C>T (p.Leu213=) c.378C>T (p.Leu126=) | ClinVar gnomAD v4 |
| 11 | g.116835907G>C | CA477048566 | APOA1 | c.705C>G (p.Leu235=) c.639C>G (p.Leu213=) c.378C>G (p.Leu126=) | ClinVar dbSNP |
| 11 | g.116835907G= | CA2002761783 | APOA1 | c.705C= (p.Leu235=) c.639C= (p.Leu213=) c.378C= (p.Leu126=) | |
| 11 | g.116835907G>T | CA477048567 | APOA1 | c.705C>A (p.Leu235=) c.639C>A (p.Leu213=) c.378C>A (p.Leu126=) | gnomAD v4 |
| 11 | g.116835908A>C | CA382714334 | APOA1 | c.704T>G (p.Leu235Arg) c.638T>G (p.Leu213Arg) c.377T>G (p.Leu126Arg) | |
| 11 | g.116835908A>G | CA382714337 | APOA1 | c.704T>C (p.Leu235Pro) c.638T>C (p.Leu213Pro) c.377T>C (p.Leu126Pro) | |
| 11 | g.116835908A>T | CA382714340 | APOA1 | c.704T>A (p.Leu235His) c.638T>A (p.Leu213His) c.377T>A (p.Leu126His) | |
| 11 | g.116835909G>A | CA382714342 | APOA1 | c.703C>T (p.Leu235Phe) c.637C>T (p.Leu213Phe) c.376C>T (p.Leu126Phe) | gnomAD v4 |
| 11 | g.116835909G>C | CA382714344 | APOA1 | c.703C>G (p.Leu235Val) c.637C>G (p.Leu213Val) c.376C>G (p.Leu126Val) | ClinVar dbSNP gnomAD v4 |
| 11 | g.116835909G= | CA2002761784 | APOA1 | c.703C= (p.Leu235=) c.637C= (p.Leu213=) c.376C= (p.Leu126=) | |
| 11 | g.116835909G>T | CA382714348 | APOA1 | c.703C>A (p.Leu235Ile) c.637C>A (p.Leu213Ile) c.376C>A (p.Leu126Ile) | |
| 11 | g.116835910C>A | CA477048568 | APOA1 | c.702G>T (p.Ala234=) c.636G>T (p.Ala212=) c.375G>T (p.Ala125=) | |
| 11 | g.116835910C= | CA2002761785 | APOA1 | c.702G= (p.Ala234=) c.636G= (p.Ala212=) c.375G= (p.Ala125=) | |
| 11 | g.116835910C>G | CA477048569 | APOA1 | c.702G>C (p.Ala234=) c.636G>C (p.Ala212=) c.375G>C (p.Ala125=) | |
| 11 | g.116835910C>T | CA477048570 | APOA1 | c.702G>A (p.Ala234=) c.636G>A (p.Ala212=) c.375G>A (p.Ala125=) | dbSNP |
| 11 | g.116835911G>A | CA382714358 | APOA1 | c.701C>T (p.Ala234Val) c.635C>T (p.Ala212Val) c.374C>T (p.Ala125Val) | dbSNP |
| 11 | g.116835911G>C | CA382714354 | APOA1 | c.701C>G (p.Ala234Gly) c.635C>G (p.Ala212Gly) c.374C>G (p.Ala125Gly) | |
| 11 | g.116835911G= | CA2002761786 | APOA1 | c.701C= (p.Ala234=) c.635C= (p.Ala212=) c.374C= (p.Ala125=) | |
| 11 | g.116835911G>T | CA382714352 | APOA1 | c.701C>A (p.Ala234Glu) c.635C>A (p.Ala212Glu) c.374C>A (p.Ala125Glu) | |
| 11 | g.116835912C>A | CA382714361 | APOA1 | c.700G>T (p.Ala234Ser) c.634G>T (p.Ala212Ser) c.373G>T (p.Ala125Ser) | |
| 11 | g.116835912C>G | CA382714363 | APOA1 | c.700G>C (p.Ala234Pro) c.634G>C (p.Ala212Pro) c.373G>C (p.Ala125Pro) | |
| 11 | g.116835912C>T | CA382714364 | APOA1 | c.700G>A (p.Ala234Thr) c.634G>A (p.Ala212Thr) c.373G>A (p.Ala125Thr) | |
| 11 | g.116835913G>A | CA6289755 | APOA1 | c.699C>T (p.Pro233=) c.633C>T (p.Pro211=) c.372C>T (p.Pro124=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116835913G>C | CA477048572 | APOA1 | c.699C>G (p.Pro233=) c.633C>G (p.Pro211=) c.372C>G (p.Pro124=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116835913G= | CA2002761787 | APOA1 | c.699C= (p.Pro233=) c.633C= (p.Pro211=) c.372C= (p.Pro124=) | |
| 11 | g.116835913G>T | CA477048571 | APOA1 | c.699C>A (p.Pro233=) c.633C>A (p.Pro211=) c.372C>A (p.Pro124=) | dbSNP gnomAD v4 COSMIC |
| 11 | g.116835914G>A | CA382714372 | APOA1 | c.698C>T (p.Pro233Leu) c.632C>T (p.Pro211Leu) c.371C>T (p.Pro124Leu) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.116835914G>C | CA382714379 | APOA1 | c.698C>G (p.Pro233Arg) c.632C>G (p.Pro211Arg) c.371C>G (p.Pro124Arg) | |
| 11 | g.116835914G= | CA2002761788 | APOA1 | c.698C= (p.Pro233=) c.632C= (p.Pro211=) c.371C= (p.Pro124=) | |
| 11 | g.116835914G>T | CA382714381 | APOA1 | c.698C>A (p.Pro233His) c.632C>A (p.Pro211His) c.371C>A (p.Pro124His) | dbSNP |
| 11 | g.116835915G>A | CA382714385 | APOA1 | c.697C>T (p.Pro233Ser) c.631C>T (p.Pro211Ser) c.370C>T (p.Pro124Ser) | |
| 11 | g.116835915G>C | CA382714387 | APOA1 | c.697C>G (p.Pro233Ala) c.631C>G (p.Pro211Ala) c.370C>G (p.Pro124Ala) | |
| 11 | g.116835915G>T | CA382714390 | APOA1 | c.697C>A (p.Pro233Thr) c.631C>A (p.Pro211Thr) c.370C>A (p.Pro124Thr) | |
| 11 | g.116835916C>A | CA382714393 | APOA1 | c.696G>T (p.Lys232Asn) c.630G>T (p.Lys210Asn) c.369G>T (p.Lys123Asn) | |
| 11 | g.116835916C>G | CA382714394 | APOA1 | c.696G>C (p.Lys232Asn) c.630G>C (p.Lys210Asn) c.369G>C (p.Lys123Asn) | |
| 11 | g.116835916C>T | CA477048574 | APOA1 | c.696G>A (p.Lys232=) c.630G>A (p.Lys210=) c.369G>A (p.Lys123=) | |
| 11 | g.116835917T>A | CA382714405 | APOA1 | c.695A>T (p.Lys232Met) c.629A>T (p.Lys210Met) c.368A>T (p.Lys123Met) | |
| 11 | g.116835917T>C | CA382714403 | APOA1 | c.695A>G (p.Lys232Arg) c.629A>G (p.Lys210Arg) c.368A>G (p.Lys123Arg) | |
| 11 | g.116835917T>G | CA382714399 | APOA1 | c.695A>C (p.Lys232Thr) c.629A>C (p.Lys210Thr) c.368A>C (p.Lys123Thr) | |
| 11 | g.116835918T>A | CA382714411 | APOA1 | c.694A>T (p.Lys232Ter) c.628A>T (p.Lys210Ter) c.367A>T (p.Lys123Ter) | |
| 11 | g.116835918T>C | CA382714415 | APOA1 | c.694A>G (p.Lys232Glu) c.628A>G (p.Lys210Glu) c.367A>G (p.Lys123Glu) | |
| 11 | g.116835918T>G | CA382714418 | APOA1 | c.694A>C (p.Lys232Gln) c.628A>C (p.Lys210Gln) c.367A>C (p.Lys123Gln) | |
| 11 | g.116835919G>A | CA477048575 | APOA1 | c.693C>T (p.Ala231=) c.627C>T (p.Ala209=) c.366C>T (p.Ala122=) | |
| 11 | g.116835919G>C | CA477048576 | APOA1 | c.693C>G (p.Ala231=) c.627C>G (p.Ala209=) c.366C>G (p.Ala122=) | ClinVar gnomAD v4 |
| 11 | g.116835919G>T | CA477048577 | APOA1 | c.693C>A (p.Ala231=) c.627C>A (p.Ala209=) c.366C>A (p.Ala122=) | |
| 11 | g.116835919_116835940dup | CA2616111912 | APOA1 | c.672_693dup (p.Lys232GlufsTer?) c.606_627dup (p.Lys210GlufsTer?) c.345_366dup (p.Lys123GlufsTer?) | gnomAD v4 |
| 11 | g.116835920G>A | CA382714422 | APOA1 | c.692C>T (p.Ala231Val) c.626C>T (p.Ala209Val) c.365C>T (p.Ala122Val) | |
| 11 | g.116835920G>C | CA382714425 | APOA1 | c.692C>G (p.Ala231Gly) c.626C>G (p.Ala209Gly) c.365C>G (p.Ala122Gly) | |
| 11 | g.116835920G>T | CA382714428 | APOA1 | c.692C>A (p.Ala231Asp) c.626C>A (p.Ala209Asp) c.365C>A (p.Ala122Asp) | |
| 11 | g.116835921C>A | CA382714436 | APOA1 | c.691G>T (p.Ala231Ser) c.625G>T (p.Ala209Ser) c.364G>T (p.Ala122Ser) | |
| 11 | g.116835921C>G | CA382714431 | APOA1 | c.691G>C (p.Ala231Pro) c.625G>C (p.Ala209Pro) c.364G>C (p.Ala122Pro) | |
| 11 | g.116835921C>T | CA382714434 | APOA1 | c.691G>A (p.Ala231Thr) c.625G>A (p.Ala209Thr) c.364G>A (p.Ala122Thr) | |
| 11 | g.116835921_116835924delinsCCTT | CA2002761789 | APOA1 | c.688_691delinsAAGG (p.Lys230=) c.622_625delinsAAGG (p.Lys208=) c.361_364delinsAAGG (p.Lys121=) | |
| 11 | g.116835922C>A | CA382714439 | APOA1 | c.690G>T (p.Lys230Asn) c.624G>T (p.Lys208Asn) c.363G>T (p.Lys121Asn) | |
| 11 | g.116835922C= | CA2002761790 | APOA1 | c.690G= (p.Lys230=) c.624G= (p.Lys208=) c.363G= (p.Lys121=) | |
| 11 | g.116835922C>G | CA382714442 | APOA1 | c.690G>C (p.Lys230Asn) c.624G>C (p.Lys208Asn) c.363G>C (p.Lys121Asn) | |
| 11 | g.116835922C>T | CA477048578 | APOA1 | c.690G>A (p.Lys230=) c.624G>A (p.Lys208=) c.363G>A (p.Lys121=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116835924_116835926del | CA602136485 | APOA1 | c.688_690del (p.Lys230del) c.622_624del (p.Lys208del) c.361_363del (p.Lys121del) | dbSNP gnomAD v2 |
| 11 | g.116835923T>A | CA382714445 | APOA1 | c.689A>T (p.Lys230Met) c.623A>T (p.Lys208Met) c.362A>T (p.Lys121Met) | |
| 11 | g.116835923T>C | CA382714446 | APOA1 | c.689A>G (p.Lys230Arg) c.623A>G (p.Lys208Arg) c.362A>G (p.Lys121Arg) | |
| 11 | g.116835923T>G | CA382714447 | APOA1 | c.689A>C (p.Lys230Thr) c.623A>C (p.Lys208Thr) c.362A>C (p.Lys121Thr) | |
| 11 | g.116835924T>A | CA382714448 | APOA1 | c.688A>T (p.Lys230Ter) c.622A>T (p.Lys208Ter) c.361A>T (p.Lys121Ter) | |
| 11 | g.116835924T>C | CA382714451 | APOA1 | c.688A>G (p.Lys230Glu) c.622A>G (p.Lys208Glu) c.361A>G (p.Lys121Glu) | |
| 11 | g.116835924T>G | CA382714449 | APOA1 | c.688A>C (p.Lys230Gln) c.622A>C (p.Lys208Gln) c.361A>C (p.Lys121Gln) | |
| 11 | g.116835925C>A | CA382714454 | APOA1 | c.687G>T (p.Glu229Asp) c.621G>T (p.Glu207Asp) c.360G>T (p.Glu120Asp) | |
| 11 | g.116835925C= | CA2002761791 | APOA1 | c.687G= (p.Glu229=) c.621G= (p.Glu207=) c.360G= (p.Glu120=) | |
| 11 | g.116835925C>G | CA382714456 | APOA1 | c.687G>C (p.Glu229Asp) c.621G>C (p.Glu207Asp) c.360G>C (p.Glu120Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116835925C>T | CA477048579 | APOA1 | c.687G>A (p.Glu229=) c.621G>A (p.Glu207=) c.360G>A (p.Glu120=) | ClinVar gnomAD v4 COSMIC |
| 11 | g.116835926T>A | CA382714459 | APOA1 | c.686A>T (p.Glu229Val) c.620A>T (p.Glu207Val) c.359A>T (p.Glu120Val) | |
| 11 | g.116835926T>C | CA382714462 | APOA1 | c.686A>G (p.Glu229Gly) c.620A>G (p.Glu207Gly) c.359A>G (p.Glu120Gly) | |
| 11 | g.116835926T>G | CA382714465 | APOA1 | c.686A>C (p.Glu229Ala) c.620A>C (p.Glu207Ala) c.359A>C (p.Glu120Ala) | |
| 11 | g.116835927C>A | CA382714473 | APOA1 | c.685G>T (p.Glu229Ter) c.619G>T (p.Glu207Ter) c.358G>T (p.Glu120Ter) | gnomAD v4 COSMIC |
| 11 | g.116835927C= | CA2002761792 | APOA1 | c.685G= (p.Glu229=) c.619G= (p.Glu207=) c.358G= (p.Glu120=) | |
| 11 | g.116835927C>G | CA382714475 | APOA1 | c.685G>C (p.Glu229Gln) c.619G>C (p.Glu207Gln) c.358G>C (p.Glu120Gln) | |
| 11 | g.116835927C>T | CA6289756 | APOA1 | c.685G>A (p.Glu229Lys) c.619G>A (p.Glu207Lys) c.358G>A (p.Glu120Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116835928G>A | CA477048580 | APOA1 | c.684C>T (p.Ser228=) c.618C>T (p.Ser206=) c.357C>T (p.Ser119=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116835928G>C | CA382714479 | APOA1 | c.684C>G (p.Ser228Arg) c.618C>G (p.Ser206Arg) c.357C>G (p.Ser119Arg) | |
| 11 | g.116835928G= | CA2002761793 | APOA1 | c.684C= (p.Ser228=) c.618C= (p.Ser206=) c.357C= (p.Ser119=) | |
| 11 | g.116835928G>T | CA6289757 | APOA1 | c.684C>A (p.Ser228Arg) c.618C>A (p.Ser206Arg) c.357C>A (p.Ser119Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116835929C>A | CA382714488 | APOA1 | c.683G>T (p.Ser228Ile) c.617G>T (p.Ser206Ile) c.356G>T (p.Ser119Ile) | |
| 11 | g.116835929C>G | CA382714486 | APOA1 | c.683G>C (p.Ser228Thr) c.617G>C (p.Ser206Thr) c.356G>C (p.Ser119Thr) | |
| 11 | g.116835929C>T | CA382714485 | APOA1 | c.683G>A (p.Ser228Asn) c.617G>A (p.Ser206Asn) c.356G>A (p.Ser119Asn) | |
| 11 | g.116835930T>A | CA382714491 | APOA1 | c.682A>T (p.Ser228Cys) c.616A>T (p.Ser206Cys) c.355A>T (p.Ser119Cys) | gnomAD v4 |
| 11 | g.116835930T>C | CA382714496 | APOA1 | c.682A>G (p.Ser228Gly) c.616A>G (p.Ser206Gly) c.355A>G (p.Ser119Gly) | |
| 11 | g.116835930T>G | CA382714493 | APOA1 | c.682A>C (p.Ser228Arg) c.616A>C (p.Ser206Arg) c.355A>C (p.Ser119Arg) | dbSNP |
| 11 | g.116835930T= | CA2002761794 | APOA1 | c.682A= (p.Ser228=) c.616A= (p.Ser206=) c.355A= (p.Ser119=) | |
| 11 | g.116835931G>A | CA477048582 | APOA1 | c.681C>T (p.Leu227=) c.615C>T (p.Leu205=) c.354C>T (p.Leu118=) | |
| 11 | g.116835931G>C | CA477048583 | APOA1 | c.681C>G (p.Leu227=) c.615C>G (p.Leu205=) c.354C>G (p.Leu118=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116835931G= | CA2002761795 | APOA1 | c.681C= (p.Leu227=) c.615C= (p.Leu205=) c.354C= (p.Leu118=) | |
| 11 | g.116835931G>T | CA477048584 | APOA1 | c.681C>A (p.Leu227=) c.615C>A (p.Leu205=) c.354C>A (p.Leu118=) | |
| 11 | g.116835932A>C | CA382714500 | APOA1 | c.680T>G (p.Leu227Arg) c.614T>G (p.Leu205Arg) c.353T>G (p.Leu118Arg) | |
| 11 | g.116835932A>G | CA382714503 | APOA1 | c.680T>C (p.Leu227Pro) c.614T>C (p.Leu205Pro) c.353T>C (p.Leu118Pro) | |
| 11 | g.116835932A>T | CA382714505 | APOA1 | c.680T>A (p.Leu227His) c.614T>A (p.Leu205His) c.353T>A (p.Leu118His) | |
| 11 | g.116835933G>A | CA382714508 | APOA1 | c.679C>T (p.Leu227Phe) c.613C>T (p.Leu205Phe) c.352C>T (p.Leu118Phe) | |
| 11 | g.116835933G>C | CA382714509 | APOA1 | c.679C>G (p.Leu227Val) c.613C>G (p.Leu205Val) c.352C>G (p.Leu118Val) | |
| 11 | g.116835933G>T | CA382714511 | APOA1 | c.679C>A (p.Leu227Ile) c.613C>A (p.Leu205Ile) c.352C>A (p.Leu118Ile) | gnomAD v4 |
| 11 | g.116835933_116835934delinsGC | CA2002761796 | APOA1 | c.678_679delinsGC (p.Thr226=) c.612_613delinsGC (p.Thr204=) c.351_352delinsGC (p.Thr117=) | |
| 11 | g.116835934del | CA602136487 | APOA1 | c.678del (p.Leu227SerfsTer28) c.612del (p.Leu205SerfsTer28) c.351del (p.Leu118SerfsTer28) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116835934C>A | CA6289758 | APOA1 | c.678G>T (p.Thr226=) c.612G>T (p.Thr204=) c.351G>T (p.Thr117=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116835934C= | CA2002761797 | APOA1 | c.678G= (p.Thr226=) c.612G= (p.Thr204=) c.351G= (p.Thr117=) | |
| 11 | g.116835934C>G | CA6289759 | APOA1 | c.678G>C (p.Thr226=) c.612G>C (p.Thr204=) c.351G>C (p.Thr117=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116835934C>T | CA229323968 | APOA1 | c.678G>A (p.Thr226=) c.612G>A (p.Thr204=) c.351G>A (p.Thr117=) | dbSNP |
| 11 | g.116835935G>A | CA382714518 | APOA1 | c.677C>T (p.Thr226Met) c.611C>T (p.Thr204Met) c.350C>T (p.Thr117Met) | ClinVar dbSNP |
| 11 | g.116835935G>C | CA382714521 | APOA1 | c.677C>G (p.Thr226Arg) c.611C>G (p.Thr204Arg) c.350C>G (p.Thr117Arg) | |
| 11 | g.116835935G= | CA2002761798 | APOA1 | c.677C= (p.Thr226=) c.611C= (p.Thr204=) c.350C= (p.Thr117=) | |
| 11 | g.116835935G>T | CA382714523 | APOA1 | c.677C>A (p.Thr226Lys) c.611C>A (p.Thr204Lys) c.350C>A (p.Thr117Lys) | COSMIC |
| 11 | g.116835936T>A | CA382714531 | APOA1 | c.676A>T (p.Thr226Ser) c.610A>T (p.Thr204Ser) c.349A>T (p.Thr117Ser) | |
| 11 | g.116835936T>C | CA382714526 | APOA1 | c.676A>G (p.Thr226Ala) c.610A>G (p.Thr204Ala) c.349A>G (p.Thr117Ala) | |
| 11 | g.116835936T>G | CA382714529 | APOA1 | c.676A>C (p.Thr226Pro) c.610A>C (p.Thr204Pro) c.349A>C (p.Thr117Pro) | |
| 11 | g.116835937G>A | CA477048589 | APOA1 | c.675C>T (p.Ser225=) c.609C>T (p.Ser203=) c.348C>T (p.Ser116=) | dbSNP |
| 11 | g.116835937G>C | CA382714533 | APOA1 | c.675C>G (p.Ser225Arg) c.609C>G (p.Ser203Arg) c.348C>G (p.Ser116Arg) | |
| 11 | g.116835937G= | CA2002761799 | APOA1 | c.675C= (p.Ser225=) c.609C= (p.Ser203=) c.348C= (p.Ser116=) | |
| 11 | g.116835937G>T | CA382714534 | APOA1 | c.675C>A (p.Ser225Arg) c.609C>A (p.Ser203Arg) c.348C>A (p.Ser116Arg) | gnomAD v4 |
| 11 | g.116835938C>A | CA382714541 | APOA1 | c.674G>T (p.Ser225Ile) c.608G>T (p.Ser203Ile) c.347G>T (p.Ser116Ile) | |
| 11 | g.116835938C>G | CA382714543 | APOA1 | c.674G>C (p.Ser225Thr) c.608G>C (p.Ser203Thr) c.347G>C (p.Ser116Thr) | |
| 11 | g.116835938C>T | CA382714546 | APOA1 | c.674G>A (p.Ser225Asn) c.608G>A (p.Ser203Asn) c.347G>A (p.Ser116Asn) | |
| 11 | g.116835939T>A | CA382714549 | APOA1 | c.673A>T (p.Ser225Cys) c.607A>T (p.Ser203Cys) c.346A>T (p.Ser116Cys) | |
| 11 | g.116835939T>C | CA6289760 | APOA1 | c.673A>G (p.Ser225Gly) c.607A>G (p.Ser203Gly) c.346A>G (p.Ser116Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116835939T>G | CA382714552 | APOA1 | c.673A>C (p.Ser225Arg) c.607A>C (p.Ser203Arg) c.346A>C (p.Ser116Arg) | |
| 11 | g.116835939T= | CA2002761800 | APOA1 | c.673A= (p.Ser225=) c.607A= (p.Ser203=) c.346A= (p.Ser116=) | |
| 11 | g.116835940C>A | CA477048591 | APOA1 | c.672G>T (p.Leu224=) c.606G>T (p.Leu202=) c.345G>T (p.Leu115=) | |
| 11 | g.116835940C= | CA2002761801 | APOA1 | c.672G= (p.Leu224=) c.606G= (p.Leu202=) c.345G= (p.Leu115=) | |
| 11 | g.116835940C>G | CA477048593 | APOA1 | c.672G>C (p.Leu224=) c.606G>C (p.Leu202=) c.345G>C (p.Leu115=) | |
| 11 | g.116835940C>T | CA477048595 | APOA1 | c.672G>A (p.Leu224=) c.606G>A (p.Leu202=) c.345G>A (p.Leu115=) | dbSNP |
| 11 | g.116835941A>C | CA382714555 | APOA1 | c.671T>G (p.Leu224Arg) c.605T>G (p.Leu202Arg) c.344T>G (p.Leu115Arg) | |
| 11 | g.116835941A>G | CA382714556 | APOA1 | c.671T>C (p.Leu224Pro) c.605T>C (p.Leu202Pro) c.344T>C (p.Leu115Pro) | |
| 11 | g.116835941A>T | CA382714557 | APOA1 | c.671T>A (p.Leu224Gln) c.605T>A (p.Leu202Gln) c.344T>A (p.Leu115Gln) | |
| 11 | g.116835942G>A | CA229323994 | APOA1 | c.670C>T (p.Leu224=) c.604C>T (p.Leu202=) c.343C>T (p.Leu115=) | dbSNP |
| 11 | g.116835942G>C | CA382714564 | APOA1 | c.670C>G (p.Leu224Val) c.604C>G (p.Leu202Val) c.343C>G (p.Leu115Val) | |
| 11 | g.116835942G= | CA2002761802 | APOA1 | c.670C= (p.Leu224=) c.604C= (p.Leu202=) c.343C= (p.Leu115=) | |
| 11 | g.116835942G>T | CA382714560 | APOA1 | c.670C>A (p.Leu224Met) c.604C>A (p.Leu202Met) c.343C>A (p.Leu115Met) | |
| 11 | g.116835943A>C | CA382714567 | APOA1 | c.669T>G (p.His223Gln) c.603T>G (p.His201Gln) c.342T>G (p.His114Gln) | |
| 11 | g.116835943A>G | CA477048596 | APOA1 | c.669T>C (p.His223=) c.603T>C (p.His201=) c.342T>C (p.His114=) | gnomAD v4 |
| 11 | g.116835943A>T | CA382714570 | APOA1 | c.669T>A (p.His223Gln) c.603T>A (p.His201Gln) c.342T>A (p.His114Gln) | |
| 11 | g.116835944T>A | CA382714573 | APOA1 | c.668A>T (p.His223Leu) c.602A>T (p.His201Leu) c.341A>T (p.His114Leu) | |
| 11 | g.116835944T>C | CA382714576 | APOA1 | c.668A>G (p.His223Arg) c.602A>G (p.His201Arg) c.341A>G (p.His114Arg) | ClinVar dbSNP gnomAD v4 |
| 11 | g.116835944T>G | CA382714580 | APOA1 | c.668A>C (p.His223Pro) c.602A>C (p.His201Pro) c.341A>C (p.His114Pro) | |
| 11 | g.116835945G>A | CA382714595 | APOA1 | c.667C>T (p.His223Tyr) c.601C>T (p.His201Tyr) c.340C>T (p.His114Tyr) | |
| 11 | g.116835945G>C | CA382714591 | APOA1 | c.667C>G (p.His223Asp) c.601C>G (p.His201Asp) c.340C>G (p.His114Asp) | |
| 11 | g.116835945G>T | CA382714589 | APOA1 | c.667C>A (p.His223Asn) c.601C>A (p.His201Asn) c.340C>A (p.His114Asn) | |
| 11 | g.116835946C>A | CA382714596 | APOA1 | c.666G>T (p.Glu222Asp) c.600G>T (p.Glu200Asp) c.339G>T (p.Glu113Asp) | |
| 11 | g.116835946C= | CA2002761803 | APOA1 | c.666G= (p.Glu222=) c.600G= (p.Glu200=) c.339G= (p.Glu113=) | |
| 11 | g.116835946C>G | CA382714599 | APOA1 | c.666G>C (p.Glu222Asp) c.600G>C (p.Glu200Asp) c.339G>C (p.Glu113Asp) | |
| 11 | g.116835946C>T | CA6289761 | APOA1 | c.666G>A (p.Glu222=) c.600G>A (p.Glu200=) c.339G>A (p.Glu113=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116835947T>A | CA382714606 | APOA1 | c.665A>T (p.Glu222Val) c.599A>T (p.Glu200Val) c.338A>T (p.Glu113Val) | |
| 11 | g.116835947T>C | CA382714608 | APOA1 | c.665A>G (p.Glu222Gly) c.599A>G (p.Glu200Gly) c.338A>G (p.Glu113Gly) | gnomAD v4 |
| 11 | g.116835947T>G | CA382714610 | APOA1 | c.665A>C (p.Glu222Ala) c.599A>C (p.Glu200Ala) c.338A>C (p.Glu113Ala) | |
| 11 | g.116835948C>A | CA382714613 | APOA1 | c.664G>T (p.Glu222Ter) c.598G>T (p.Glu200Ter) c.337G>T (p.Glu113Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116835948C= | CA2002761804 | APOA1 | c.664G= (p.Glu222=) c.598G= (p.Glu200=) c.337G= (p.Glu113=) | |
| 11 | g.116835948C>G | CA382714615 | APOA1 | c.664G>C (p.Glu222Gln) c.598G>C (p.Glu200Gln) c.337G>C (p.Glu113Gln) | |
| 11 | g.116835948C>T | CA127546 | APOA1 | c.664G>A (p.Glu222Lys) c.598G>A (p.Glu200Lys) c.337G>A (p.Glu113Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116835949G>A | CA477048598 | APOA1 | c.663C>T (p.Thr221=) c.597C>T (p.Thr199=) c.336C>T (p.Thr112=) | |
| 11 | g.116835949G>C | CA477048599 | APOA1 | c.663C>G (p.Thr221=) c.597C>G (p.Thr199=) c.336C>G (p.Thr112=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116835949G= | CA2002761805 | APOA1 | c.663C= (p.Thr221=) c.597C= (p.Thr199=) c.336C= (p.Thr112=) | |
| 11 | g.116835949G>T | CA229324001 | APOA1 | c.663C>A (p.Thr221=) c.597C>A (p.Thr199=) c.336C>A (p.Thr112=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116835950G>A | CA382714620 | APOA1 | c.662C>T (p.Thr221Ile) c.596C>T (p.Thr199Ile) c.335C>T (p.Thr112Ile) | |
| 11 | g.116835950G>C | CA6289762 | APOA1 | c.662C>G (p.Thr221Ser) c.596C>G (p.Thr199Ser) c.335C>G (p.Thr112Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116835950G= | CA2002761806 | APOA1 | c.662C= (p.Thr221=) c.596C= (p.Thr199=) c.335C= (p.Thr112=) | |
| 11 | g.116835950G>T | CA382714623 | APOA1 | c.662C>A (p.Thr221Asn) c.596C>A (p.Thr199Asn) c.335C>A (p.Thr112Asn) | |
| 11 | g.116835951T>A | CA382714625 | APOA1 | c.661A>T (p.Thr221Ser) c.595A>T (p.Thr199Ser) c.334A>T (p.Thr112Ser) | |
| 11 | g.116835951T>C | CA382714627 | APOA1 | c.661A>G (p.Thr221Ala) c.595A>G (p.Thr199Ala) c.334A>G (p.Thr112Ala) | |
| 11 | g.116835951T>G | CA382714638 | APOA1 | c.661A>C (p.Thr221Pro) c.595A>C (p.Thr199Pro) c.334A>C (p.Thr112Pro) | |
| 11 | g.116835952G>A | CA477048600 | APOA1 | c.660C>T (p.Ala220=) c.594C>T (p.Ala198=) c.333C>T (p.Ala111=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116835952G>C | CA477048602 | APOA1 | c.660C>G (p.Ala220=) c.594C>G (p.Ala198=) c.333C>G (p.Ala111=) | gnomAD v4 |
| 11 | g.116835952G= | CA2002761807 | APOA1 | c.660C= (p.Ala220=) c.594C= (p.Ala198=) c.333C= (p.Ala111=) | |
| 11 | g.116835952G>T | CA477048603 | APOA1 | c.660C>A (p.Ala220=) c.594C>A (p.Ala198=) c.333C>A (p.Ala111=) | |
| 11 | g.116835953G>A | CA382714641 | APOA1 | c.659C>T (p.Ala220Val) c.593C>T (p.Ala198Val) c.332C>T (p.Ala111Val) | gnomAD v4 |
| 11 | g.116835953G>C | CA382714643 | APOA1 | c.659C>G (p.Ala220Gly) c.593C>G (p.Ala198Gly) c.332C>G (p.Ala111Gly) | |
| 11 | g.116835953G>T | CA382714645 | APOA1 | c.659C>A (p.Ala220Asp) c.593C>A (p.Ala198Asp) c.332C>A (p.Ala111Asp) | |
| 11 | g.116835954C>A | CA382714648 | APOA1 | c.658G>T (p.Ala220Ser) c.592G>T (p.Ala198Ser) c.331G>T (p.Ala111Ser) | |
| 11 | g.116835954C= | CA2002761808 | APOA1 | c.658G= (p.Ala220=) c.592G= (p.Ala198=) c.331G= (p.Ala111=) | |
| 11 | g.116835954C>G | CA6289763 | APOA1 | c.658G>C (p.Ala220Pro) c.592G>C (p.Ala198Pro) c.331G>C (p.Ala111Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116835954C>T | CA382714653 | APOA1 | c.658G>A (p.Ala220Thr) c.592G>A (p.Ala198Thr) c.331G>A (p.Ala111Thr) | |
| 11 | g.116835955C>A | CA382714659 | APOA1 | c.657G>T (p.Lys219Asn) c.591G>T (p.Lys197Asn) c.330G>T (p.Lys110Asn) | |
| 11 | g.116835955C>G | CA382714657 | APOA1 | c.657G>C (p.Lys219Asn) c.591G>C (p.Lys197Asn) c.330G>C (p.Lys110Asn) | |
| 11 | g.116835955C>T | CA477048604 | APOA1 | c.657G>A (p.Lys219=) c.591G>A (p.Lys197=) c.330G>A (p.Lys110=) | |
| 11 | g.116835956T>A | CA382714660 | APOA1 | c.656A>T (p.Lys219Met) c.590A>T (p.Lys197Met) c.329A>T (p.Lys110Met) | |
| 11 | g.116835956T>C | CA382714663 | APOA1 | c.656A>G (p.Lys219Arg) c.590A>G (p.Lys197Arg) c.329A>G (p.Lys110Arg) | |
| 11 | g.116835956T>G | CA382714661 | APOA1 | c.656A>C (p.Lys219Thr) c.590A>C (p.Lys197Thr) c.329A>C (p.Lys110Thr) | |
| 11 | g.116835957T>A | CA382714666 | APOA1 | c.655A>T (p.Lys219Ter) c.589A>T (p.Lys197Ter) c.328A>T (p.Lys110Ter) | |
| 11 | g.116835957T>C | CA382714669 | APOA1 | c.655A>G (p.Lys219Glu) c.589A>G (p.Lys197Glu) c.328A>G (p.Lys110Glu) | |
| 11 | g.116835957T>G | CA382714672 | APOA1 | c.655A>C (p.Lys219Gln) c.589A>C (p.Lys197Gln) c.328A>C (p.Lys110Gln) | |
| 11 | g.116835958G>A | CA477048606 | APOA1 | c.654C>T (p.Ala218=) c.588C>T (p.Ala196=) c.327C>T (p.Ala109=) | |
| 11 | g.116835958G>C | CA477048607 | APOA1 | c.654C>G (p.Ala218=) c.588C>G (p.Ala196=) c.327C>G (p.Ala109=) | |
| 11 | g.116835958G>T | CA477048608 | APOA1 | c.654C>A (p.Ala218=) c.588C>A (p.Ala196=) c.327C>A (p.Ala109=) | |
| 11 | g.116835959G>A | CA382714675 | APOA1 | c.653C>T (p.Ala218Val) c.587C>T (p.Ala196Val) c.326C>T (p.Ala109Val) | |
| 11 | g.116835959G>C | CA382714682 | APOA1 | c.653C>G (p.Ala218Gly) c.587C>G (p.Ala196Gly) c.326C>G (p.Ala109Gly) | dbSNP gnomAD v2 |
| 11 | g.116835959G= | CA2002761809 | APOA1 | c.653C= (p.Ala218=) c.587C= (p.Ala196=) c.326C= (p.Ala109=) | |
| 11 | g.116835959G>T | CA382714688 | APOA1 | c.653C>A (p.Ala218Asp) c.587C>A (p.Ala196Asp) c.326C>A (p.Ala109Asp) | |
| 11 | g.116835960C>A | CA382714695 | APOA1 | c.652G>T (p.Ala218Ser) c.586G>T (p.Ala196Ser) c.325G>T (p.Ala109Ser) | |
| 11 | g.116835960C= | CA2002761810 | APOA1 | c.652G= (p.Ala218=) c.586G= (p.Ala196=) c.325G= (p.Ala109=) | |
| 11 | g.116835960C>G | CA229324006 | APOA1 | c.652G>C (p.Ala218Pro) c.586G>C (p.Ala196Pro) c.325G>C (p.Ala109Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116835960C>T | CA382714690 | APOA1 | c.652G>A (p.Ala218Thr) c.586G>A (p.Ala196Thr) c.325G>A (p.Ala109Thr) | |
| 11 | g.116835961G>A | CA6289764 | APOA1 | c.651C>T (p.His217=) c.585C>T (p.His195=) c.324C>T (p.His108=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116835961G>C | CA382714699 | APOA1 | c.651C>G (p.His217Gln) c.585C>G (p.His195Gln) c.324C>G (p.His108Gln) | |
| 11 | g.116835961G= | CA2002761811 | APOA1 | c.651C= (p.His217=) c.585C= (p.His195=) c.324C= (p.His108=) | |
| 11 | g.116835961G>T | CA382714702 | APOA1 | c.651C>A (p.His217Gln) c.585C>A (p.His195Gln) c.324C>A (p.His108Gln) | |
| 11 | g.116835962T>A | CA382714707 | APOA1 | c.650A>T (p.His217Leu) c.584A>T (p.His195Leu) c.323A>T (p.His108Leu) | |
| 11 | g.116835962T>C | CA382714709 | APOA1 | c.650A>G (p.His217Arg) c.584A>G (p.His195Arg) c.323A>G (p.His108Arg) | |
| 11 | g.116835962T>G | CA382714712 | APOA1 | c.650A>C (p.His217Pro) c.584A>C (p.His195Pro) c.323A>C (p.His108Pro) | |
| 11 | g.116835963G>A | CA382714716 | APOA1 | c.649C>T (p.His217Tyr) c.583C>T (p.His195Tyr) c.322C>T (p.His108Tyr) | dbSNP |
| 11 | g.116835963G>C | CA382714721 | APOA1 | c.649C>G (p.His217Asp) c.583C>G (p.His195Asp) c.322C>G (p.His108Asp) | |
| 11 | g.116835963G= | CA2002761812 | APOA1 | c.649C= (p.His217=) c.583C= (p.His195=) c.322C= (p.His108=) | |
| 11 | g.116835963G>T | CA382714717 | APOA1 | c.649C>A (p.His217Asn) c.583C>A (p.His195Asn) c.322C>A (p.His108Asn) | |
| 11 | g.116835964G>A | CA6289765 | APOA1 | c.648C>T (p.Tyr216=) c.582C>T (p.Tyr194=) c.321C>T (p.Tyr107=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.116835964G>C | CA382714725 | APOA1 | c.648C>G (p.Tyr216Ter) c.582C>G (p.Tyr194Ter) c.321C>G (p.Tyr107Ter) | |
| 11 | g.116835964G= | CA2002761813 | APOA1 | c.648C= (p.Tyr216=) c.582C= (p.Tyr194=) c.321C= (p.Tyr107=) | |
| 11 | g.116835964G>T | CA382714728 | APOA1 | c.648C>A (p.Tyr216Ter) c.582C>A (p.Tyr194Ter) c.321C>A (p.Tyr107Ter) | |
| 11 | g.116835965T>A | CA382714734 | APOA1 | c.647A>T (p.Tyr216Phe) c.581A>T (p.Tyr194Phe) c.320A>T (p.Tyr107Phe) | |
| 11 | g.116835965T>C | CA382714735 | APOA1 | c.647A>G (p.Tyr216Cys) c.581A>G (p.Tyr194Cys) c.320A>G (p.Tyr107Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116835965T>G | CA382714738 | APOA1 | c.647A>C (p.Tyr216Ser) c.581A>C (p.Tyr194Ser) c.320A>C (p.Tyr107Ser) | |
| 11 | g.116835966A= | CA2002761814 | APOA1 | c.646T= (p.Tyr216=) c.580T= (p.Tyr194=) c.319T= (p.Tyr107=) | |
| 11 | g.116835966A>C | CA382714742 | APOA1 | c.646T>G (p.Tyr216Asp) c.580T>G (p.Tyr194Asp) c.319T>G (p.Tyr107Asp) | dbSNP |
| 11 | g.116835966A>G | CA382714745 | APOA1 | c.646T>C (p.Tyr216His) c.580T>C (p.Tyr194His) c.319T>C (p.Tyr107His) | gnomAD v4 |
| 11 | g.116835966A>T | CA382714748 | APOA1 | c.646T>A (p.Tyr216Asn) c.580T>A (p.Tyr194Asn) c.319T>A (p.Tyr107Asn) | |
| 11 | g.116835967C>A | CA382714749 | APOA1 | c.645G>T (p.Glu215Asp) c.579G>T (p.Glu193Asp) c.318G>T (p.Glu106Asp) | |
| 11 | g.116835967C= | CA2002761815 | APOA1 | c.645G= (p.Glu215=) c.579G= (p.Glu193=) c.318G= (p.Glu106=) | |
| 11 | g.116835967C>G | CA382714757 | APOA1 | c.645G>C (p.Glu215Asp) c.579G>C (p.Glu193Asp) c.318G>C (p.Glu106Asp) | |
| 11 | g.116835967C>T | CA6289766 | APOA1 | c.645G>A (p.Glu215=) c.579G>A (p.Glu193=) c.318G>A (p.Glu106=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116835968T>A | CA382714765 | APOA1 | c.644A>T (p.Glu215Val) c.578A>T (p.Glu193Val) c.317A>T (p.Glu106Val) | |
| 11 | g.116835968T>C | CA382714771 | APOA1 | c.644A>G (p.Glu215Gly) c.578A>G (p.Glu193Gly) c.317A>G (p.Glu106Gly) | |
| 11 | g.116835968T>G | CA382714767 | APOA1 | c.644A>C (p.Glu215Ala) c.578A>C (p.Glu193Ala) c.317A>C (p.Glu106Ala) | |
| 11 | g.116835970_116835977del | CA602136489 | APOA1 | c.637_644del (p.Leu213ValfsTer?) c.571_578del (p.Leu191ValfsTer?) c.310_317del (p.Leu104ValfsTer?) | gnomAD v2 gnomAD v4 |
| 11 | g.116835969C>A | CA382714774 | APOA1 | c.643G>T (p.Glu215Ter) c.577G>T (p.Glu193Ter) c.316G>T (p.Glu106Ter) | |
| 11 | g.116835969C= | CA2002761816 | APOA1 | c.643G= (p.Glu215=) c.577G= (p.Glu193=) c.316G= (p.Glu106=) | |
| 11 | g.116835969C>G | CA229324035 | APOA1 | c.643G>C (p.Glu215Gln) c.577G>C (p.Glu193Gln) c.316G>C (p.Glu106Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116835969C>T | CA382714776 | APOA1 | c.643G>A (p.Glu215Lys) c.577G>A (p.Glu193Lys) c.316G>A (p.Glu106Lys) | ClinVar gnomAD v4 |
| 11 | g.116835970G>A | CA6289768 | APOA1 | c.642C>T (p.Ala214=) c.576C>T (p.Ala192=) c.315C>T (p.Ala105=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116835970G>C | CA6289767 | APOA1 | c.642C>G (p.Ala214=) c.576C>G (p.Ala192=) c.315C>G (p.Ala105=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116835970G= | CA2002761817 | APOA1 | c.642C= (p.Ala214=) c.576C= (p.Ala192=) c.315C= (p.Ala105=) | |
| 11 | g.116835970G>T | CA477048609 | APOA1 | c.642C>A (p.Ala214=) c.576C>A (p.Ala192=) c.315C>A (p.Ala105=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116835971G>A | CA382714779 | APOA1 | c.641C>T (p.Ala214Val) c.575C>T (p.Ala192Val) c.314C>T (p.Ala105Val) | ClinVar gnomAD v4 |
| 11 | g.116835971G>C | CA382714781 | APOA1 | c.641C>G (p.Ala214Gly) c.575C>G (p.Ala192Gly) c.314C>G (p.Ala105Gly) | dbSNP gnomAD v4 |
| 11 | g.116835971G= | CA2002761818 | APOA1 | c.641C= (p.Ala214=) c.575C= (p.Ala192=) c.314C= (p.Ala105=) | |
| 11 | g.116835971G>T | CA382714783 | APOA1 | c.641C>A (p.Ala214Asp) c.575C>A (p.Ala192Asp) c.314C>A (p.Ala105Asp) | |
| 11 | g.116835972C>A | CA382714787 | APOA1 | c.640G>T (p.Ala214Ser) c.574G>T (p.Ala192Ser) c.313G>T (p.Ala105Ser) | |
| 11 | g.116835972C= | CA2002761819 | APOA1 | c.640G= (p.Ala214=) c.574G= (p.Ala192=) c.313G= (p.Ala105=) | |
| 11 | g.116835972C>G | CA382714789 | APOA1 | c.640G>C (p.Ala214Pro) c.574G>C (p.Ala192Pro) c.313G>C (p.Ala105Pro) | |
| 11 | g.116835972C>T | CA382714791 | APOA1 | c.640G>A (p.Ala214Thr) c.574G>A (p.Ala192Thr) c.313G>A (p.Ala105Thr) | dbSNP gnomAD v2 |
| 11 | g.116835973C>A | CA477048610 | APOA1 | c.639G>T (p.Leu213=) c.573G>T (p.Leu191=) c.312G>T (p.Leu104=) | |
| 11 | g.116835973C>G | CA477048612 | APOA1 | c.639G>C (p.Leu213=) c.573G>C (p.Leu191=) c.312G>C (p.Leu104=) | |
| 11 | g.116835973C>T | CA477048611 | APOA1 | c.639G>A (p.Leu213=) c.573G>A (p.Leu191=) c.312G>A (p.Leu104=) | ClinVar |