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.116832872C>A | CA6289705 | APOC3 | c.288C>A (p.Ala96=) c.342C>A (p.Ala114=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116832872C= | CA2002760316 | APOC3 | c.288C= (p.Ala96=) c.342C= (p.Ala114=) | |
| 11 | g.116832872C>G | CA476868975 | APOC3 | c.288C>G (p.Ala96=) c.342C>G (p.Ala114=) | |
| 11 | g.116832872C>T | CA6289706 | APOC3 | c.288C>T (p.Ala96=) c.342C>T (p.Ala114=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116832873G>A | CA6289707 | APOC3 | c.289G>A (p.Val97Met) c.343G>A (p.Val115Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116832873G>C | CA382711776 | APOC3 | c.289G>C (p.Val97Leu) c.343G>C (p.Val115Leu) | |
| 11 | g.116832873G= | CA2002760317 | APOC3 | c.289G= (p.Val97=) c.343G= (p.Val115=) | |
| 11 | g.116832873G>T | CA382711780 | APOC3 | c.289G>T (p.Val97Leu) c.343G>T (p.Val115Leu) | dbSNP |
| 11 | g.116832874T>A | CA382711786 | APOC3 | c.290T>A (p.Val97Glu) c.344T>A (p.Val115Glu) | dbSNP |
| 11 | g.116832874T>C | CA382711788 | APOC3 | c.290T>C (p.Val97Ala) c.344T>C (p.Val115Ala) | |
| 11 | g.116832874T>G | CA382711789 | APOC3 | c.290T>G (p.Val97Gly) c.344T>G (p.Val115Gly) | |
| 11 | g.116832875G>A | CA476868976 | APOC3 | c.291G>A (p.Val97=) c.345G>A (p.Val115=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116832875G>C | CA476868978 | APOC3 | c.291G>C (p.Val97=) c.345G>C (p.Val115=) | |
| 11 | g.116832875G= | CA2002760318 | APOC3 | c.291G= (p.Val97=) c.345G= (p.Val115=) | |
| 11 | g.116832875G>T | CA476868977 | APOC3 | c.291G>T (p.Val97=) c.345G>T (p.Val115=) | |
| 11 | g.116832876G>A | CA382711795 | APOC3 | c.292G>A (p.Ala98Thr) c.346G>A (p.Ala116Thr) | |
| 11 | g.116832876G>C | CA382711791 | APOC3 | c.292G>C (p.Ala98Pro) c.346G>C (p.Ala116Pro) | |
| 11 | g.116832876G>T | CA382711790 | APOC3 | c.292G>T (p.Ala98Ser) c.346G>T (p.Ala116Ser) | |
| 11 | g.116832877C>A | CA382711800 | APOC3 | c.293C>A (p.Ala98Asp) c.347C>A (p.Ala116Asp) | |
| 11 | g.116832877C>G | CA382711803 | APOC3 | c.293C>G (p.Ala98Gly) c.347C>G (p.Ala116Gly) | |
| 11 | g.116832877C>T | CA382711809 | APOC3 | c.293C>T (p.Ala98Val) c.347C>T (p.Ala116Val) | |
| 11 | g.116832878T>A | CA476868979 | APOC3 | c.294T>A (p.Ala98=) c.348T>A (p.Ala116=) | |
| 11 | g.116832878T>C | CA476868980 | APOC3 | c.294T>C (p.Ala98=) c.348T>C (p.Ala116=) | |
| 11 | g.116832878T>G | CA476868981 | APOC3 | c.294T>G (p.Ala98=) c.348T>G (p.Ala116=) | |
| 11 | g.116832879G>A | CA382711810 | APOC3 | c.295G>A (p.Ala99Thr) c.349G>A (p.Ala117Thr) | |
| 11 | g.116832879G>C | CA382711811 | APOC3 | c.295G>C (p.Ala99Pro) c.349G>C (p.Ala117Pro) | |
| 11 | g.116832879G= | CA2002760319 | APOC3 | c.295G= (p.Ala99=) c.349G= (p.Ala117=) | |
| 11 | g.116832879G>T | CA6289708 | APOC3 | c.295G>T (p.Ala99Ser) c.349G>T (p.Ala117Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116832880C>A | CA382711814 | APOC3 | c.296C>A (p.Ala99Asp) c.350C>A (p.Ala117Asp) | |
| 11 | g.116832880C>G | CA382711817 | APOC3 | c.296C>G (p.Ala99Gly) c.350C>G (p.Ala117Gly) | |
| 11 | g.116832880C>T | CA382711821 | APOC3 | c.296C>T (p.Ala99Val) c.350C>T (p.Ala117Val) | gnomAD v4 |
| 11 | g.116832883_116832889del | CA2616111296 | APOC3 | c.299_*5del (n.[c.299_*5del;Ter100SerextTer?]) c.353_*5del (n.[c.353_*5del;Ter118SerextTer?]) c.353_359del (n.[c.353_359del;Ter118SerextTer?]) | gnomAD v4 |
| 11 | g.116832881C>A | CA476868984 | APOC3 | c.297C>A (p.Ala99=) c.351C>A (p.Ala117=) | |
| 11 | g.116832881C>G | CA476868982 | APOC3 | c.297C>G (p.Ala99=) c.351C>G (p.Ala117=) | |
| 11 | g.116832881C>T | CA476868983 | APOC3 | c.297C>T (p.Ala99=) c.351C>T (p.Ala117=) | |
| 11 | g.116832882T>A | CA382711824 | APOC3 | c.298T>A (p.Ter100Arg) c.352T>A (p.Ter118Arg) | dbSNP |
| 11 | g.116832882T>C | CA382711825 | APOC3 | c.298T>C (p.Ter100Arg) c.352T>C (p.Ter118Arg) | |
| 11 | g.116832882T>G | CA382711826 | APOC3 | c.298T>G (p.Ter100Gly) c.352T>G (p.Ter118Gly) | gnomAD v4 |
| 11 | g.116832882T= | CA2002760320 | APOC3 | c.298T= (p.Ter100=) c.352T= (p.Ter118=) | |
| 11 | g.116832883G>A | CA6289709 | APOC3 | c.299G>A (p.Ter100=) c.353G>A (p.Ter118=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116832883G>C | CA382711829 | APOC3 | c.299G>C (p.Ter100Ser) c.353G>C (p.Ter118Ser) | |
| 11 | g.116832883G= | CA2002760321 | APOC3 | c.299G= (p.Ter100=) c.353G= (p.Ter118=) | |
| 11 | g.116832883G>T | CA382711827 | APOC3 | c.299G>T (p.Ter100Leu) c.353G>T (p.Ter118Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116832884A>C | CA382711834 | APOC3 | c.300A>C (p.Ter100Cys) c.354A>C (p.Ter118Cys) | |
| 11 | g.116832884A>G | CA382711835 | APOC3 | c.300A>G (p.Ter100Trp) c.354A>G (p.Ter118Trp) | |
| 11 | g.116832884A>T | CA382711837 | APOC3 | c.300A>T (p.Ter100Cys) c.354A>T (p.Ter118Cys) | |
| 11 | g.116832885G>A | CA2574986582 | APOC3 | c.*1G>A (n.*1G>A) c.355G>A (n.355G>A) | gnomAD v4 |
| 11 | g.116832885G>C | CA2002760323 | APOC3 | c.*1G>C (n.*1G>C) c.355G>C (n.355G>C) | dbSNP |
| 11 | g.116832885G= | CA2002760322 | APOC3 | c.*1G= (n.*1G=) c.355G= (n.355G=) | |
| 11 | g.116832886A= | CA2002760324 | APOC3 | c.*2A= (n.*2A=) c.356A= (n.356A=) | |
| 11 | g.116832886A>C | CA2002760325 | APOC3 | c.*2A>C (n.*2A>C) c.356A>C (n.356A>C) | dbSNP gnomAD v4 |
| 11 | g.116832887C>A | CA942608793 | APOC3 | c.*3C>A (n.*3C>A) c.357C>A (n.357C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116832887C= | CA2002760326 | APOC3 | c.*3C= (n.*3C=) c.357C= (n.357C=) | |
| 11 | g.116832887C>T | CA601826027 | APOC3 | c.*3C>T (n.*3C>T) c.357C>T (n.357C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116832888C= | CA2002760327 | APOC3 | c.*4C= (n.*4C=) c.358C= (n.358C=) | |
| 11 | g.116832888C>T | CA229321058 | APOC3 | c.*4C>T (n.*4C>T) c.358C>T (n.358C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116832889T>G | CA601826028 | APOC3 | c.*5T>G (n.*5T>G) c.359T>G (n.359T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116832889T= | CA2002760328 | APOC3 | c.*5T= (n.*5T=) c.359T= (n.359T=) | |
| 11 | g.116832892A= | CA2002760329 | APOC3 | c.*8A= (n.*8A=) c.362A= (n.362A=) | |
| 11 | g.116832892A>G | CA6289710 | APOC3 | c.*8A>G (n.*8A>G) c.362A>G (n.362A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116832893T>C | CA601826031 | APOC3 | c.*9T>C (n.*9T>C) c.363T>C (n.363T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116832893T= | CA2002760330 | APOC3 | c.*9T= (n.*9T=) c.363T= (n.363T=) | |
| 11 | g.116832894A= | CA2002760331 | APOC3 | c.*10A= (n.*10A=) c.364A= (n.364A=) | |
| 11 | g.116832894A>C | CA6289711 | APOC3 | c.*10A>C (n.*10A>C) c.364A>C (n.364A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116832894A>G | CA942608796 | APOC3 | c.*10A>G (n.*10A>G) c.364A>G (n.364A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116832895C>T | CA2725025339 | APOC3 | c.*11C>T (n.*11C>T) c.365C>T (n.365C>T) | dbSNP |
| 11 | g.116832896C>A | CA2616111297 | APOC3 | c.*12C>A (n.*12C>A) c.366C>A (n.366C>A) | gnomAD v4 |
| 11 | g.116832896C>T | CA2793765127 | APOC3 | c.*12C>T (n.*12C>T) c.366C>T (n.366C>T) | |
| 11 | g.116832897C>T | CA2616111298 | APOC3 | c.*13C>T (n.*13C>T) c.367C>T (n.367C>T) | gnomAD v4 |
| 11 | g.116832897_116832898insAAACACACCCAACA | CA2793765128 | APOC3 | c.*13_*14insAAACACACCCAACA (n.*13_*14insAAACACACCCAACA) c.367_368insAAACACACCCAACA (n.367_368insAAACACACCCAACA) | |
| 11 | g.116832900A>G | CA2616111299 | APOC3 | c.*16A>G (n.*16A>G) c.370A>G (n.370A>G) | gnomAD v4 |
| 11 | g.116832900A>T | CA2616111300 | APOC3 | c.*16A>T (n.*16A>T) c.370A>T (n.370A>T) | gnomAD v4 |
| 11 | g.116832901G= | CA2002760332 | APOC3 | c.*17G= (n.*17G=) c.371G= (n.371G=) | |
| 11 | g.116832901G>T | CA601826033 | APOC3 | c.*17G>T (n.*17G>T) c.371G>T (n.371G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116832902T>A | CA476868985 | APOC3 | c.*18T>A (n.*18T>A) c.372T>A (n.372T>A) | gnomAD v4 |
| 11 | g.116832902T>C | CA6289712 | APOC3 | c.*18T>C (n.*18T>C) c.372T>C (n.372T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116832902T= | CA2002760333 | APOC3 | c.*18T= (n.*18T=) c.372T= (n.372T=) | |
| 11 | g.116832903C>A | CA2616111301 | APOC3 | c.*19C>A (n.*19C>A) c.373C>A (n.373C>A) | gnomAD v4 |
| 11 | g.116832904dup | CA6289713 | APOC3 | c.*20dup (n.*20dup) c.374dup (n.374dup) | dbSNP ExAC gnomAD v2 |
| 11 | g.116832905A= | CA2002760334 | APOC3 | c.*21A= (n.*21A=) c.375A= (n.375A=) | |
| 11 | g.116832905A>C | CA6289714 | APOC3 | c.*21A>C (n.*21A>C) c.375A>C (n.375A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116832905A>T | CA942608800 | APOC3 | c.*21A>T (n.*21A>T) c.375A>T (n.375A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116832906C= | CA2002760335 | APOC3 | c.*22C= (n.*22C=) c.376C= (n.376C=) | |
| 11 | g.116832906C>G | CA2574986583 | APOC3 | c.*22C>G (n.*22C>G) c.376C>G (n.376C>G) | |
| 11 | g.116832906C>T | CA229321138 | APOC3 | c.*22C>T (n.*22C>T) c.376C>T (n.376C>T) | dbSNP gnomAD v4 |
| 11 | g.116832907C>T | CA2616111302 | APOC3 | c.*23C>T (n.*23C>T) c.377C>T (n.377C>T) | dbSNP gnomAD v4 |
| 11 | g.116832908T>G | CA229321146 | APOC3 | c.*24T>G (n.*24T>G) c.378T>G (n.378T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116832908T= | CA2002760336 | APOC3 | c.*24T= (n.*24T=) c.378T= (n.378T=) | |
| 11 | g.116832909G>A | CA601826035 | APOC3 | c.*25G>A (n.*25G>A) c.379G>A (n.379G>A) | dbSNP gnomAD v2 COSMIC |
| 11 | g.116832909G= | CA2002760337 | APOC3 | c.*25G= (n.*25G=) c.379G= (n.379G=) | |
| 11 | g.116832909G>T | CA2616111303 | APOC3 | c.*25G>T (n.*25G>T) c.379G>T (n.379G>T) | gnomAD v4 |
| 11 | g.116832910C= | CA2002760338 | APOC3 | c.*26C= (n.*26C=) c.380C= (n.380C=) | |
| 11 | g.116832910C>T | CA6289715 | APOC3 | c.*26C>T (n.*26C>T) c.380C>T (n.380C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116832911C= | CA2002760339 | APOC3 | c.*27C= (n.*27C=) c.381C= (n.381C=) | |
| 11 | g.116832911C>G | CA2574986584 | APOC3 | c.*27C>G (n.*27C>G) c.381C>G (n.381C>G) | |
| 11 | g.116832911C>T | CA942608806 | APOC3 | c.*27C>T (n.*27C>T) c.381C>T (n.381C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116832913A= | CA2002760340 | APOC3 | c.*29A= (n.*29A=) c.383A= (n.383A=) | |
| 11 | g.116832913A>G | CA601826037 | APOC3 | c.*29A>G (n.*29A>G) c.383A>G (n.383A>G) | dbSNP gnomAD v2 |
| 11 | g.116832914T>A | CA2002760342 | APOC3 | c.*30T>A (n.*30T>A) c.384T>A (n.384T>A) | dbSNP gnomAD v4 |
| 11 | g.116832914T>G | CA672202298 | APOC3 | c.*30T>G (n.*30T>G) c.384T>G (n.384T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116832914T= | CA2002760341 | APOC3 | c.*30T= (n.*30T=) c.384T= (n.384T=) | |
| 11 | g.116832915C= | CA2002760343 | APOC3 | c.*31C= (n.*31C=) c.385C= (n.385C=) | |
| 11 | g.116832915C>T | CA601826038 | APOC3 | c.*31C>T (n.*31C>T) c.385C>T (n.385C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116832916C= | CA2002760344 | APOC3 | c.*32C= (n.*32C=) c.386C= (n.386C=) | |
| 11 | g.116832916C>T | CA2002760345 | APOC3 | c.*32C>T (n.*32C>T) c.386C>T (n.386C>T) | dbSNP |
| 11 | g.116832918T>C | CA6289716 | APOC3 | c.*34T>C (n.*34T>C) c.388T>C (n.388T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116832918T= | CA2002760346 | APOC3 | c.*34T= (n.*34T=) c.388T= (n.388T=) | |
| 11 | g.116832919C>A | CA2616111304 | APOC3 | c.*35C>A (n.*35C>A) c.389C>A (n.389C>A) | gnomAD v4 |
| 11 | g.116832919C= | CA2002760347 | APOC3 | c.*35C= (n.*35C=) c.389C= (n.389C=) | |
| 11 | g.116832919C>G | CA6289717 | APOC3 | c.*35C>G (n.*35C>G) c.389C>G (n.389C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116832922G>T | CA2793765129 | APOC3 | c.*38G>T (n.*38G>T) c.392G>T (n.392G>T) | |
| 11 | g.116832924G>A | CA2580575208 | APOC3 | c.*40G>A (n.*40G>A) c.394G>A (n.394G>A) | gnomAD v4 |
| 11 | g.116832924G>C | CA6289718 | APOC3 | c.*40G>C (n.*40G>C) c.394G>C (n.394G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116832924G= | CA2002760348 | APOC3 | c.*40G= (n.*40G=) c.394G= (n.394G=) | |
| 11 | g.116832924G>T | CA2580575209 | APOC3 | c.*40G>T (n.*40G>T) c.394G>T (n.394G>T) | |
| 11 | g.116832926G>A | CA2616111305 | APOC3 | c.*42G>A (n.*42G>A) c.396G>A (n.396G>A) | gnomAD v4 |
| 11 | g.116832927C>T | CA2616111306 | APOC3 | c.*43C>T (n.*43C>T) c.397C>T (n.397C>T) | gnomAD v4 |
| 11 | g.116832929C>A | CA2616111307 | APOC3 | c.*45C>A (n.*45C>A) c.399C>A (n.399C>A) | gnomAD v4 |
| 11 | g.116832929C= | CA2002760349 | APOC3 | c.*45C= (n.*45C=) c.399C= (n.399C=) | |
| 11 | g.116832929C>T | CA672202310 | APOC3 | c.*45C>T (n.*45C>T) c.399C>T (n.399C>T) | dbSNP |
| 11 | g.116832930C>A | CA6289719 | APOC3 | c.*46C>A (n.*46C>A) c.400C>A (n.400C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116832930C= | CA2002760350 | APOC3 | c.*46C= (n.*46C=) c.400C= (n.400C=) | |
| 11 | g.116832930C>T | CA2616111308 | APOC3 | c.*46C>T (n.*46C>T) c.400C>T (n.400C>T) | gnomAD v4 |
| 11 | g.116832931T>C | CA2793765130 | APOC3 | c.*47T>C (n.*47T>C) c.401T>C (n.401T>C) | |
| 11 | g.116832932T>C | CA6289720 | APOC3 | c.*48T>C (n.*48T>C) c.402T>C (n.402T>C) | dbSNP ExAC |
| 11 | g.116832932T= | CA2002760351 | APOC3 | c.*48T= (n.*48T=) c.402T= (n.402T=) | |
| 11 | g.116832933G= | CA2002760352 | APOC3 | c.*49G= (n.*49G=) c.403G= (n.403G=) | |
| 11 | g.116832933G>T | CA6289721 | APOC3 | c.*49G>T (n.*49G>T) c.403G>T (n.403G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116832934G>A | CA2616111309 | APOC3 | c.*50G>A (n.*50G>A) c.404G>A (n.404G>A) | gnomAD v4 |
| 11 | g.116832934G>C | CA6289722 | APOC3 | c.*50G>C (n.*50G>C) c.404G>C (n.404G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116832934G= | CA2002760353 | APOC3 | c.*50G= (n.*50G=) c.404G= (n.404G=) | |
| 11 | g.116832934G>T | CA2616111310 | APOC3 | c.*50G>T (n.*50G>T) c.404G>T (n.404G>T) | gnomAD v4 |
| 11 | g.116832935G>A | CA2574986585 | APOC3 | c.*51G>A (n.*51G>A) c.405G>A (n.405G>A) | gnomAD v4 |
| 11 | g.116832935G= | CA2002760354 | APOC3 | c.*51G= (n.*51G=) c.405G= (n.405G=) | |
| 11 | g.116832935G>T | CA6289723 | APOC3 | c.*51G>T (n.*51G>T) c.405G>T (n.405G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116832936T>C | CA6289724 | APOC3 | c.*52T>C (n.*52T>C) c.406T>C (n.406T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116832936T= | CA2002760355 | APOC3 | c.*52T= (n.*52T=) c.406T= (n.406T=) | |
| 11 | g.116832938C>A | CA2616111311 | APOC3 | c.*54C>A (n.*54C>A) c.408C>A (n.408C>A) | gnomAD v4 |
| 11 | g.116832938C>T | CA2616111312 | APOC3 | c.*54C>T (n.*54C>T) c.408C>T (n.408C>T) | gnomAD v4 |
| 11 | g.116832941C>T | CA2574986586 | APOC3 | c.*57C>T (n.*57C>T) c.411C>T (n.411C>T) | |
| 11 | g.116832942A= | CA2002760356 | APOC3 | c.*58A= (n.*58A=) c.412A= (n.412A=) | |
| 11 | g.116832942A>G | CA229321195 | APOC3 | c.*58A>G (n.*58A>G) c.412A>G (n.412A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116832944T>C | CA2616111313 | APOC3 | c.*60T>C (n.*60T>C) c.414T>C (n.414T>C) | gnomAD v4 |
| 11 | g.116832945C>A | CA2616111314 | APOC3 | c.*61C>A (n.*61C>A) c.415C>A (n.415C>A) | gnomAD v4 |
| 11 | g.116832947C>A | CA2616111316 | APOC3 | c.*63C>A (n.*63C>A) c.417C>A (n.417C>A) | gnomAD v4 |
| 11 | g.116832947C= | CA2002760357 | APOC3 | c.*63C= (n.*63C=) c.417C= (n.417C=) | |
| 11 | g.116832947C>T | CA672202336 | APOC3 | c.*63C>T (n.*63C>T) c.417C>T (n.417C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116832948del | CA2616111315 | APOC3 | c.*64del (n.*64del) c.418del (n.418del) | gnomAD v4 |
| 11 | g.116832948C>A | CA2616111317 | APOC3 | c.*64C>A (n.*64C>A) c.418C>A (n.418C>A) | gnomAD v4 |
| 11 | g.116832949A>C | CA2616111318 | APOC3 | c.*65A>C (n.*65A>C) c.419A>C (n.419A>C) | gnomAD v4 |
| 11 | g.116832952G>A | CA601826041 | APOC3 | c.*68G>A (n.*68G>A) c.422G>A (n.422G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116832952G>C | CA2002760359 | APOC3 | c.*68G>C (n.*68G>C) c.422G>C (n.422G>C) | dbSNP |
| 11 | g.116832952G= | CA2002760358 | APOC3 | c.*68G= (n.*68G=) c.422G= (n.422G=) | |
| 11 | g.116832952G>T | CA672202344 | APOC3 | c.*68G>T (n.*68G>T) c.422G>T (n.422G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116832953C>A | CA229321201 | APOC3 | c.*69C>A (n.*69C>A) c.423C>A (n.423C>A) | dbSNP gnomAD v4 |
| 11 | g.116832953C= | CA2002760360 | APOC3 | c.*69C= (n.*69C=) c.423C= (n.423C=) | |
| 11 | g.116832953C>T | CA2574986587 | APOC3 | c.*69C>T (n.*69C>T) c.423C>T (n.423C>T) | gnomAD v4 |
| 11 | g.116832953_116832954del | CA2616111319 | APOC3 | c.*69_*70del (n.*69_*70del) c.423_424del (n.423_424del) | gnomAD v4 |
| 11 | g.116832955G>A | CA2581038209 | APOC3 | c.*71G>A (n.*71G>A) c.425G>A (n.425G>A) | gnomAD v4 |
| 11 | g.116832955G>C | CA2581038208 | APOC3 | c.*71G>C (n.*71G>C) c.425G>C (n.425G>C) | |
| 11 | g.116832955G= | CA2002760361 | APOC3 | c.*71G= (n.*71G=) c.425G= (n.425G=) | |
| 11 | g.116832955G>T | CA13493086 | APOC3 | c.*71G>T (n.*71G>T) c.425G>T (n.425G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116832955_116832956delinsGC | CA2002760362 | APOC3 | c.*71_*72delinsGC (n.*71_*72delinsGC) c.425_426delinsGC (n.425_426delinsGC) | |
| 11 | g.116832955_116832956insT | CA654624861 | APOC3 | c.*71_*72insT (n.*71_*72insT) c.425_426insT (n.425_426insT) | |
| 11 | g.116832955_116832956insAA | CA2616111320 | APOC3 | c.*71_*72insAA (n.*71_*72insAA) c.425_426insAA (n.425_426insAA) | gnomAD v4 |
| 11 | g.116832956C>G | CA2616111321 | APOC3 | c.*72C>G (n.*72C>G) c.426C>G (n.426C>G) | gnomAD v4 |
| 11 | g.116832956C>T | CA2616111322 | APOC3 | c.*72C>T (n.*72C>T) c.426C>T (n.426C>T) | gnomAD v4 |
| 11 | g.116832959del | CA942608823 | APOC3 | c.*75del (n.*75del) c.429del (n.429del) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116832959C>A | CA2616111323 | APOC3 | c.*75C>A (n.*75C>A) c.429C>A (n.429C>A) | gnomAD v4 |
| 11 | g.116832960T>C | CA2002760364 | APOC3 | c.*76T>C (n.*76T>C) c.430T>C (n.430T>C) | dbSNP |
| 11 | g.116832960T= | CA2002760363 | APOC3 | c.*76T= (n.*76T=) c.430T= (n.430T=) | |
| 11 | g.116832962T>G | CA2616111324 | APOC3 | c.*78T>G (n.*78T>G) c.432T>G (n.432T>G) | gnomAD v4 |
| 11 | g.116832964G>A | CA2616111325 | APOC3 | c.*80G>A (n.*80G>A) c.434G>A (n.434G>A) | gnomAD v4 |
| 11 | g.116832964G= | CA2002760365 | APOC3 | c.*80G= (n.*80G=) c.434G= (n.434G=) | |
| 11 | g.116832964G>T | CA2002760366 | APOC3 | c.*80G>T (n.*80G>T) c.434G>T (n.434G>T) | dbSNP gnomAD v4 |
| 11 | g.116832965G>A | CA2616111326 | APOC3 | c.*81G>A (n.*81G>A) c.435G>A (n.435G>A) | gnomAD v4 |
| 11 | g.116832965G>C | CA2616111327 | APOC3 | c.*81G>C (n.*81G>C) c.435G>C (n.435G>C) | gnomAD v4 |
| 11 | g.116832965G>T | CA2558628937 | APOC3 | c.*81G>T (n.*81G>T) c.435G>T (n.435G>T) | gnomAD v4 |
| 11 | g.116832966T>A | CA476868986 | APOC3 | c.*82T>A (n.*82T>A) c.436T>A (n.436T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116832966T= | CA2002760367 | APOC3 | c.*82T= (n.*82T=) c.436T= (n.436T=) | |
| 11 | g.116832967T>C | CA2616111328 | APOC3 | c.*83T>C (n.*83T>C) c.437T>C (n.437T>C) | gnomAD v4 |
| 11 | g.116832968G>T | CA2616111329 | APOC3 | c.*84G>T (n.*84G>T) c.438G>T (n.438G>T) | gnomAD v4 |
| 11 | g.116832969C>A | CA2616111330 | APOC3 | c.*85C>A (n.*85C>A) c.439C>A (n.439C>A) | gnomAD v4 |
| 11 | g.116832970_116832974del | CA2616111331 | APOC3 | c.*86_*90del (n.*86_*90del) c.440_444del (n.440_444del) | gnomAD v4 |
| 11 | g.116832971T>A | CA2616111332 | APOC3 | c.*87T>A (n.*87T>A) c.441T>A (n.441T>A) | gnomAD v4 |
| 11 | g.116832972A>G | CA2616111334 | APOC3 | c.*88A>G (n.*88A>G) c.442A>G (n.442A>G) | gnomAD v4 |
| 11 | g.116832975del | CA2616111333 | APOC3 | c.*91del (n.*91del) c.445del (n.445del) | gnomAD v4 |