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.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.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 |