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.116836205A= | CA2002761958 | APOA1,APOA1-AS | c.407T= (p.Met136=) c.341T= (p.Met114=) n.89A= c.80T= (p.Met27=) | |
| 11 | g.116836205A>C | CA6289811 | APOA1,APOA1-AS | c.407T>G (p.Met136Arg) c.341T>G (p.Met114Arg) n.89A>C c.80T>G (p.Met27Arg) | dbSNP ExAC |
| 11 | g.116836205A>G | CA382716015 | APOA1,APOA1-AS | c.407T>C (p.Met136Thr) c.341T>C (p.Met114Thr) n.89A>G c.80T>C (p.Met27Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116836205A>T | CA382716017 | APOA1,APOA1-AS | c.407T>A (p.Met136Lys) c.341T>A (p.Met114Lys) n.89A>T c.80T>A (p.Met27Lys) | |
| 11 | g.116836206T>A | CA382716025 | APOA1,APOA1-AS | c.406A>T (p.Met136Leu) c.340A>T (p.Met114Leu) n.90T>A c.79A>T (p.Met27Leu) | |
| 11 | g.116836206T>C | CA382716027 | APOA1,APOA1-AS | c.406A>G (p.Met136Val) c.340A>G (p.Met114Val) n.90T>C c.79A>G (p.Met27Val) | dbSNP gnomAD v4 |
| 11 | g.116836206T>G | CA382716029 | APOA1,APOA1-AS | c.406A>C (p.Met136Leu) c.340A>C (p.Met114Leu) n.90T>G c.79A>C (p.Met27Leu) | |
| 11 | g.116836206T= | CA2002761959 | APOA1,APOA1-AS | c.406A= (p.Met136=) c.340A= (p.Met114=) n.90T= c.79A= (p.Met27=) | |
| 11 | g.116836206_116836209delinsTCTC | CA2002761960 | APOA1,APOA1-AS | c.403_406delinsGAGA (p.Glu135=) c.337_340delinsGAGA (p.Glu113=) n.90_93delinsTCTC c.76_79delinsGAGA (p.Glu26=) | |
| 11 | g.116836207C>A | CA382716032 | APOA1,APOA1-AS | c.405G>T (p.Glu135Asp) c.339G>T (p.Glu113Asp) n.91C>A c.78G>T (p.Glu26Asp) | dbSNP gnomAD v4 |
| 11 | g.116836207C= | CA2002761961 | APOA1,APOA1-AS | c.405G= (p.Glu135=) c.339G= (p.Glu113=) n.91C= c.78G= (p.Glu26=) | |
| 11 | g.116836207C>G | CA382716034 | APOA1,APOA1-AS | c.405G>C (p.Glu135Asp) c.339G>C (p.Glu113Asp) n.91C>G c.78G>C (p.Glu26Asp) | |
| 11 | g.116836207C>T | CA477048926 | APOA1,APOA1-AS | c.405G>A (p.Glu135=) c.339G>A (p.Glu113=) n.91C>T c.78G>A (p.Glu26=) | |
| 11 | g.116836212_116836214del | CA942609999 | APOA1,APOA1-AS | c.403_405del (p.Glu135del) c.337_339del (p.Glu113del) n.96_98del c.76_78del (p.Glu26del) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116836208T>A | CA382716039 | APOA1,APOA1-AS | c.404A>T (p.Glu135Val) c.338A>T (p.Glu113Val) n.92T>A c.77A>T (p.Glu26Val) | |
| 11 | g.116836208T>C | CA6289812 | APOA1,APOA1-AS | c.404A>G (p.Glu135Gly) c.338A>G (p.Glu113Gly) n.92T>C c.77A>G (p.Glu26Gly) | dbSNP ExAC gnomAD v2 |
| 11 | g.116836208T>G | CA382716037 | APOA1,APOA1-AS | c.404A>C (p.Glu135Ala) c.338A>C (p.Glu113Ala) n.92T>G c.77A>C (p.Glu26Ala) | gnomAD v4 |
| 11 | g.116836208T= | CA2002761962 | APOA1,APOA1-AS | c.404A= (p.Glu135=) c.338A= (p.Glu113=) n.92T= c.77A= (p.Glu26=) | |
| 11 | g.116836209C>A | CA382716043 | APOA1,APOA1-AS | c.403G>T (p.Glu135Ter) c.337G>T (p.Glu113Ter) n.93C>A c.76G>T (p.Glu26Ter) | |
| 11 | g.116836209C>G | CA382716044 | APOA1,APOA1-AS | c.403G>C (p.Glu135Gln) c.337G>C (p.Glu113Gln) n.93C>G c.76G>C (p.Glu26Gln) | |
| 11 | g.116836209C>T | CA382716048 | APOA1,APOA1-AS | c.403G>A (p.Glu135Lys) c.337G>A (p.Glu113Lys) n.93C>T c.76G>A (p.Glu26Lys) | |
| 11 | g.116836210C>A | CA382716050 | APOA1,APOA1-AS | c.402G>T (p.Glu134Asp) c.336G>T (p.Glu112Asp) n.94C>A c.75G>T (p.Glu25Asp) | |
| 11 | g.116836210C= | CA2002761963 | APOA1,APOA1-AS | c.402G= (p.Glu134=) c.336G= (p.Glu112=) n.94C= c.75G= (p.Glu25=) | |
| 11 | g.116836210C>G | CA382716051 | APOA1,APOA1-AS | c.402G>C (p.Glu134Asp) c.336G>C (p.Glu112Asp) n.94C>G c.75G>C (p.Glu25Asp) | |
| 11 | g.116836210C>T | CA229324364 | APOA1,APOA1-AS | c.402G>A (p.Glu134=) c.336G>A (p.Glu112=) n.94C>T c.75G>A (p.Glu25=) | dbSNP |
| 11 | g.116836211T>A | CA382716055 | APOA1,APOA1-AS | c.401A>T (p.Glu134Val) c.335A>T (p.Glu112Val) n.95T>A c.74A>T (p.Glu25Val) | |
| 11 | g.116836211T>C | CA6289813 | APOA1,APOA1-AS | c.401A>G (p.Glu134Gly) c.335A>G (p.Glu112Gly) n.95T>C c.74A>G (p.Glu25Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116836211T>G | CA382716060 | APOA1,APOA1-AS | c.401A>C (p.Glu134Ala) c.335A>C (p.Glu112Ala) n.95T>G c.74A>C (p.Glu25Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116836211T= | CA2002761964 | APOA1,APOA1-AS | c.401A= (p.Glu134=) c.335A= (p.Glu112=) n.95T= c.74A= (p.Glu25=) | |
| 11 | g.116836212C>A | CA382716061 | APOA1,APOA1-AS | c.400G>T (p.Glu134Ter) c.334G>T (p.Glu112Ter) n.96C>A c.73G>T (p.Glu25Ter) | gnomAD v4 |
| 11 | g.116836212C>G | CA382716064 | APOA1,APOA1-AS | c.400G>C (p.Glu134Gln) c.334G>C (p.Glu112Gln) n.96C>G c.73G>C (p.Glu25Gln) | |
| 11 | g.116836212C>T | CA382716072 | APOA1,APOA1-AS | c.400G>A (p.Glu134Lys) c.334G>A (p.Glu112Lys) n.96C>T c.73G>A (p.Glu25Lys) | |
| 11 | g.116836213C>A | CA382716073 | APOA1,APOA1-AS | c.399G>T (p.Gln133His) c.333G>T (p.Gln111His) n.97C>A c.72G>T (p.Gln24His) | |
| 11 | g.116836213C= | CA2002761965 | APOA1,APOA1-AS | c.399G= (p.Gln133=) c.333G= (p.Gln111=) n.97C= c.72G= (p.Gln24=) | |
| 11 | g.116836213C>G | CA382716076 | APOA1,APOA1-AS | c.399G>C (p.Gln133His) c.333G>C (p.Gln111His) n.97C>G c.72G>C (p.Gln24His) | |
| 11 | g.116836213C>T | CA477048932 | APOA1,APOA1-AS | c.399G>A (p.Gln133=) c.333G>A (p.Gln111=) n.97C>T c.72G>A (p.Gln24=) | dbSNP |
| 11 | g.116836214T>A | CA382716084 | APOA1,APOA1-AS | c.398A>T (p.Gln133Leu) c.332A>T (p.Gln111Leu) n.98T>A c.71A>T (p.Gln24Leu) | |
| 11 | g.116836214T>C | CA382716090 | APOA1,APOA1-AS | c.398A>G (p.Gln133Arg) c.332A>G (p.Gln111Arg) n.98T>C c.71A>G (p.Gln24Arg) | |
| 11 | g.116836214T>G | CA382716087 | APOA1,APOA1-AS | c.398A>C (p.Gln133Pro) c.332A>C (p.Gln111Pro) n.98T>G c.71A>C (p.Gln24Pro) | |
| 11 | g.116836215G>A | CA382716095 | APOA1,APOA1-AS | c.397C>T (p.Gln133Ter) c.331C>T (p.Gln111Ter) n.99G>A c.70C>T (p.Gln24Ter) | |
| 11 | g.116836215G>C | CA382716102 | APOA1,APOA1-AS | c.397C>G (p.Gln133Glu) c.331C>G (p.Gln111Glu) n.99G>C c.70C>G (p.Gln24Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116836215G= | CA2002761966 | APOA1,APOA1-AS | c.397C= (p.Gln133=) c.331C= (p.Gln111=) n.99G= c.70C= (p.Gln24=) | |
| 11 | g.116836215G>T | CA382716104 | APOA1,APOA1-AS | c.397C>A (p.Gln133Lys) c.331C>A (p.Gln111Lys) n.99G>T c.70C>A (p.Gln24Lys) | dbSNP |
| 11 | g.116836216C>A | CA382716106 | APOA1,APOA1-AS | c.396G>T (p.Trp132Cys) c.330G>T (p.Trp110Cys) n.100C>A c.69G>T (p.Trp23Cys) | |
| 11 | g.116836216C= | CA2002761967 | APOA1,APOA1-AS | c.396G= (p.Trp132=) c.330G= (p.Trp110=) n.100C= c.69G= (p.Trp23=) | |
| 11 | g.116836216C>G | CA382716108 | APOA1,APOA1-AS | c.396G>C (p.Trp132Cys) c.330G>C (p.Trp110Cys) n.100C>G c.69G>C (p.Trp23Cys) | dbSNP gnomAD v2 |
| 11 | g.116836216C>T | CA382716109 | APOA1,APOA1-AS | c.396G>A (p.Trp132Ter) c.330G>A (p.Trp110Ter) n.100C>T c.69G>A (p.Trp23Ter) | |
| 11 | g.116836217_116836219del | CA2616112114 | APOA1,APOA1-AS | c.394_396del (p.Trp132del) c.328_330del (p.Trp110del) n.101_103del c.67_69del (p.Trp23del) | gnomAD v4 |
| 11 | g.116836217C>A | CA382716111 | APOA1,APOA1-AS | c.395G>T (p.Trp132Leu) c.329G>T (p.Trp110Leu) n.101C>A c.68G>T (p.Trp23Leu) | dbSNP gnomAD v2 |