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.116832826T>A | CA382711406 | APOC3 | c.242T>A (p.Phe81Tyr) c.296T>A (p.Phe99Tyr) | |
| 11 | g.116832826T>C | CA382711408 | APOC3 | c.242T>C (p.Phe81Ser) c.296T>C (p.Phe99Ser) | |
| 11 | g.116832826T>G | CA382711411 | APOC3 | c.242T>G (p.Phe81Cys) c.296T>G (p.Phe99Cys) | |
| 11 | g.116832827C>A | CA382711414 | APOC3 | c.243C>A (p.Phe81Leu) c.297C>A (p.Phe99Leu) | |
| 11 | g.116832827C= | CA2002760295 | APOC3 | c.243C= (p.Phe81=) c.297C= (p.Phe99=) | |
| 11 | g.116832827C>G | CA382711418 | APOC3 | c.243C>G (p.Phe81Leu) c.297C>G (p.Phe99Leu) | |
| 11 | g.116832827C>T | CA476868949 | APOC3 | c.243C>T (p.Phe81=) c.297C>T (p.Phe99=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116832828T>A | CA382711421 | APOC3 | c.244T>A (p.Ser82Thr) c.298T>A (p.Ser100Thr) | |
| 11 | g.116832828T>C | CA382711423 | APOC3 | c.244T>C (p.Ser82Pro) c.298T>C (p.Ser100Pro) | |
| 11 | g.116832828T>G | CA382711426 | APOC3 | c.244T>G (p.Ser82Ala) c.298T>G (p.Ser100Ala) | |
| 11 | g.116832829C>A | CA382711433 | APOC3 | c.245C>A (p.Ser82Tyr) c.299C>A (p.Ser100Tyr) | |
| 11 | g.116832829C= | CA2002760296 | APOC3 | c.245C= (p.Ser82=) c.299C= (p.Ser100=) | |
| 11 | g.116832829C>G | CA229320907 | APOC3 | c.245C>G (p.Ser82Cys) c.299C>G (p.Ser100Cys) | dbSNP |
| 11 | g.116832829C>T | CA382711429 | APOC3 | c.245C>T (p.Ser82Phe) c.299C>T (p.Ser100Phe) | gnomAD v4 |
| 11 | g.116832830T>A | CA476868950 | APOC3 | c.246T>A (p.Ser82=) c.300T>A (p.Ser100=) | gnomAD v4 |
| 11 | g.116832830T>C | CA476868951 | APOC3 | c.246T>C (p.Ser82=) c.300T>C (p.Ser100=) | COSMIC |
| 11 | g.116832830T>G | CA476868952 | APOC3 | c.246T>G (p.Ser82=) c.300T>G (p.Ser100=) | |
| 11 | g.116832831G>A | CA382711436 | APOC3 | c.247G>A (p.Glu83Lys) c.301G>A (p.Glu101Lys) | |
| 11 | g.116832831G>C | CA382711438 | APOC3 | c.247G>C (p.Glu83Gln) c.301G>C (p.Glu101Gln) | gnomAD v4 |
| 11 | g.116832831G>T | CA382711441 | APOC3 | c.247G>T (p.Glu83Ter) c.301G>T (p.Glu101Ter) | |
| 11 | g.116832832A>C | CA382711445 | APOC3 | c.248A>C (p.Glu83Ala) c.302A>C (p.Glu101Ala) | |
| 11 | g.116832832A>G | CA382711446 | APOC3 | c.248A>G (p.Glu83Gly) c.302A>G (p.Glu101Gly) | |
| 11 | g.116832832A>T | CA382711449 | APOC3 | c.248A>T (p.Glu83Val) c.302A>T (p.Glu101Val) | |
| 11 | g.116832833G>A | CA476868953 | APOC3 | c.249G>A (p.Glu83=) c.303G>A (p.Glu101=) | |
| 11 | g.116832833G>C | CA382711451 | APOC3 | c.249G>C (p.Glu83Asp) c.303G>C (p.Glu101Asp) | dbSNP |
| 11 | g.116832833G>T | CA382711455 | APOC3 | c.249G>T (p.Glu83Asp) c.303G>T (p.Glu101Asp) | |
| 11 | g.116832834T>A | CA382711458 | APOC3 | c.250T>A (p.Phe84Ile) c.304T>A (p.Phe102Ile) | |
| 11 | g.116832834T>C | CA6289694 | APOC3 | c.250T>C (p.Phe84Leu) c.304T>C (p.Phe102Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116832834T>G | CA382711463 | APOC3 | c.250T>G (p.Phe84Val) c.304T>G (p.Phe102Val) | |
| 11 | g.116832834T= | CA2002760297 | APOC3 | c.250T= (p.Phe84=) c.304T= (p.Phe102=) | |
| 11 | g.116832835T>A | CA382711467 | APOC3 | c.251T>A (p.Phe84Tyr) c.305T>A (p.Phe102Tyr) | |
| 11 | g.116832835T>C | CA382711470 | APOC3 | c.251T>C (p.Phe84Ser) c.305T>C (p.Phe102Ser) | |
| 11 | g.116832835T>G | CA382711474 | APOC3 | c.251T>G (p.Phe84Cys) c.305T>G (p.Phe102Cys) | |
| 11 | g.116832836C>A | CA382711478 | APOC3 | c.252C>A (p.Phe84Leu) c.306C>A (p.Phe102Leu) | |
| 11 | g.116832836C>G | CA382711479 | APOC3 | c.252C>G (p.Phe84Leu) c.306C>G (p.Phe102Leu) | COSMIC |
| 11 | g.116832836C>T | CA476868954 | APOC3 | c.252C>T (p.Phe84=) c.306C>T (p.Phe102=) | |
| 11 | g.116832837T>A | CA382711483 | APOC3 | c.253T>A (p.Trp85Arg) c.307T>A (p.Trp103Arg) | COSMIC |
| 11 | g.116832837T>C | CA382711486 | APOC3 | c.253T>C (p.Trp85Arg) c.307T>C (p.Trp103Arg) | ClinVar |
| 11 | g.116832837T>G | CA382711488 | APOC3 | c.253T>G (p.Trp85Gly) c.307T>G (p.Trp103Gly) | |
| 11 | g.116832838G>A | CA6289695 | APOC3 | c.254G>A (p.Trp85Ter) c.308G>A (p.Trp103Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116832838G>C | CA382711495 | APOC3 | c.254G>C (p.Trp85Ser) c.308G>C (p.Trp103Ser) | |
| 11 | g.116832838G= | CA2002760298 | APOC3 | c.254G= (p.Trp85=) c.308G= (p.Trp103=) | |
| 11 | g.116832838G>T | CA382711497 | APOC3 | c.254G>T (p.Trp85Leu) c.308G>T (p.Trp103Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116832839G>A | CA382711501 | APOC3 | c.255G>A (p.Trp85Ter) c.309G>A (p.Trp103Ter) | COSMIC |
| 11 | g.116832839G>C | CA6289696 | APOC3 | c.255G>C (p.Trp85Cys) c.309G>C (p.Trp103Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116832839G= | CA2002760299 | APOC3 | c.255G= (p.Trp85=) c.309G= (p.Trp103=) | |
| 11 | g.116832839G>T | CA382711505 | APOC3 | c.255G>T (p.Trp85Cys) c.309G>T (p.Trp103Cys) | |
| 11 | g.116832840G>A | CA382711509 | APOC3 | c.256G>A (p.Asp86Asn) c.310G>A (p.Asp104Asn) | dbSNP |
| 11 | g.116832840G>C | CA382711514 | APOC3 | c.256G>C (p.Asp86His) c.310G>C (p.Asp104His) | |
| 11 | g.116832840G= | CA2002760300 | APOC3 | c.256G= (p.Asp86=) c.310G= (p.Asp104=) | |
| 11 | g.116832840G>T | CA382711517 | APOC3 | c.256G>T (p.Asp86Tyr) c.310G>T (p.Asp104Tyr) | dbSNP |
| 11 | g.116832841A>C | CA382711527 | APOC3 | c.257A>C (p.Asp86Ala) c.311A>C (p.Asp104Ala) | |
| 11 | g.116832841A>G | CA382711530 | APOC3 | c.257A>G (p.Asp86Gly) c.311A>G (p.Asp104Gly) | |
| 11 | g.116832841A>T | CA382711523 | APOC3 | c.257A>T (p.Asp86Val) c.311A>T (p.Asp104Val) | |
| 11 | g.116832842T>A | CA382711536 | APOC3 | c.258T>A (p.Asp86Glu) c.312T>A (p.Asp104Glu) | |
| 11 | g.116832842T>C | CA476868955 | APOC3 | c.258T>C (p.Asp86=) c.312T>C (p.Asp104=) | dbSNP |
| 11 | g.116832842T>G | CA382711533 | APOC3 | c.258T>G (p.Asp86Glu) c.312T>G (p.Asp104Glu) | |
| 11 | g.116832842T= | CA2002760301 | APOC3 | c.258T= (p.Asp86=) c.312T= (p.Asp104=) | |
| 11 | g.116832843T>A | CA382711546 | APOC3 | c.259T>A (p.Leu87Met) c.313T>A (p.Leu105Met) | |
| 11 | g.116832843T>C | CA476868956 | APOC3 | c.259T>C (p.Leu87=) c.313T>C (p.Leu105=) | |
| 11 | g.116832843T>G | CA382711539 | APOC3 | c.259T>G (p.Leu87Val) c.313T>G (p.Leu105Val) | |
| 11 | g.116832844T>A | CA382711551 | APOC3 | c.260T>A (p.Leu87Ter) c.314T>A (p.Leu105Ter) | |
| 11 | g.116832844T>C | CA382711548 | APOC3 | c.260T>C (p.Leu87Ser) c.314T>C (p.Leu105Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116832844T>G | CA382711550 | APOC3 | c.260T>G (p.Leu87Trp) c.314T>G (p.Leu105Trp) | |
| 11 | g.116832844T= | CA2002760302 | APOC3 | c.260T= (p.Leu87=) c.314T= (p.Leu105=) | |
| 11 | g.116832845G>A | CA476868957 | APOC3 | c.261G>A (p.Leu87=) c.315G>A (p.Leu105=) | |
| 11 | g.116832845G>C | CA6289697 | APOC3 | c.261G>C (p.Leu87Phe) c.315G>C (p.Leu105Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116832845G= | CA2002760303 | APOC3 | c.261G= (p.Leu87=) c.315G= (p.Leu105=) | |
| 11 | g.116832845G>T | CA382711553 | APOC3 | c.261G>T (p.Leu87Phe) c.315G>T (p.Leu105Phe) | |
| 11 | g.116832846G>A | CA382711554 | APOC3 | c.262G>A (p.Asp88Asn) c.316G>A (p.Asp106Asn) | |
| 11 | g.116832846G>C | CA382711556 | APOC3 | c.262G>C (p.Asp88His) c.316G>C (p.Asp106His) | |
| 11 | g.116832846G>T | CA382711559 | APOC3 | c.262G>T (p.Asp88Tyr) c.316G>T (p.Asp106Tyr) | |
| 11 | g.116832847A= | CA2002760304 | APOC3 | c.263A= (p.Asp88=) c.317A= (p.Asp106=) | |
| 11 | g.116832847A>C | CA382711562 | APOC3 | c.263A>C (p.Asp88Ala) c.317A>C (p.Asp106Ala) | dbSNP |
| 11 | g.116832847A>G | CA382711566 | APOC3 | c.263A>G (p.Asp88Gly) c.317A>G (p.Asp106Gly) | |
| 11 | g.116832847A>T | CA382711568 | APOC3 | c.263A>T (p.Asp88Val) c.317A>T (p.Asp106Val) | |
| 11 | g.116832848_116832863del | CA2500472015 | APOC3 | c.264_279del (p.Asp88GlufsTer?) c.318_333del (p.Asp106GlufsTer?) | |
| 11 | g.116832848C>A | CA6289698 | APOC3 | c.264C>A (p.Asp88Glu) c.318C>A (p.Asp106Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116832848C= | CA2002760305 | APOC3 | c.264C= (p.Asp88=) c.318C= (p.Asp106=) | |
| 11 | g.116832848C>G | CA382711572 | APOC3 | c.264C>G (p.Asp88Glu) c.318C>G (p.Asp106Glu) | |
| 11 | g.116832848C>T | CA476868958 | APOC3 | c.264C>T (p.Asp88=) c.318C>T (p.Asp106=) | |
| 11 | g.116832849C>A | CA382711577 | APOC3 | c.265C>A (p.Pro89Thr) c.319C>A (p.Pro107Thr) | |
| 11 | g.116832849C= | CA2002760306 | APOC3 | c.265C= (p.Pro89=) c.319C= (p.Pro107=) | |
| 11 | g.116832849C>G | CA382711576 | APOC3 | c.265C>G (p.Pro89Ala) c.319C>G (p.Pro107Ala) | |
| 11 | g.116832849C>T | CA6289699 | APOC3 | c.265C>T (p.Pro89Ser) c.319C>T (p.Pro107Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116832850C>A | CA382711578 | APOC3 | c.266C>A (p.Pro89His) c.320C>A (p.Pro107His) | |
| 11 | g.116832850C>G | CA382711579 | APOC3 | c.266C>G (p.Pro89Arg) c.320C>G (p.Pro107Arg) | |
| 11 | g.116832850C>T | CA382711580 | APOC3 | c.266C>T (p.Pro89Leu) c.320C>T (p.Pro107Leu) | |
| 11 | g.116832851T>A | CA476868959 | APOC3 | c.267T>A (p.Pro89=) c.321T>A (p.Pro107=) | |
| 11 | g.116832851T>C | CA476868960 | APOC3 | c.267T>C (p.Pro89=) c.321T>C (p.Pro107=) | gnomAD v4 |
| 11 | g.116832851T>G | CA476868961 | APOC3 | c.267T>G (p.Pro89=) c.321T>G (p.Pro107=) | |
| 11 | g.116832852G>A | CA382711582 | APOC3 | c.268G>A (p.Glu90Lys) c.322G>A (p.Glu108Lys) | |
| 11 | g.116832852G>C | CA382711585 | APOC3 | c.268G>C (p.Glu90Gln) c.322G>C (p.Glu108Gln) | |
| 11 | g.116832852G>T | CA382711588 | APOC3 | c.268G>T (p.Glu90Ter) c.322G>T (p.Glu108Ter) | |
| 11 | g.116832853A>C | CA382711591 | APOC3 | c.269A>C (p.Glu90Ala) c.323A>C (p.Glu108Ala) | |
| 11 | g.116832853A>G | CA382711593 | APOC3 | c.269A>G (p.Glu90Gly) c.323A>G (p.Glu108Gly) | COSMIC |
| 11 | g.116832853A>T | CA382711596 | APOC3 | c.269A>T (p.Glu90Val) c.323A>T (p.Glu108Val) | |
| 11 | g.116832854G>A | CA6289700 | APOC3 | c.270G>A (p.Glu90=) c.324G>A (p.Glu108=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116832854G>C | CA382711599 | APOC3 | c.270G>C (p.Glu90Asp) c.324G>C (p.Glu108Asp) | gnomAD v4 |
| 11 | g.116832854G= | CA2002760307 | APOC3 | c.270G= (p.Glu90=) c.324G= (p.Glu108=) | |
| 11 | g.116832854G>T | CA382711602 | APOC3 | c.270G>T (p.Glu90Asp) c.324G>T (p.Glu108Asp) | |
| 11 | g.116832855G>A | CA6289701 | APOC3 | c.271G>A (p.Val91Ile) c.325G>A (p.Val109Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116832855G>C | CA382711609 | APOC3 | c.271G>C (p.Val91Leu) c.325G>C (p.Val109Leu) | |
| 11 | g.116832855G= | CA2002760308 | APOC3 | c.271G= (p.Val91=) c.325G= (p.Val109=) | |
| 11 | g.116832855G>T | CA382711606 | APOC3 | c.271G>T (p.Val91Phe) c.325G>T (p.Val109Phe) | |
| 11 | g.116832856T>A | CA382711614 | APOC3 | c.272T>A (p.Val91Asp) c.326T>A (p.Val109Asp) | |
| 11 | g.116832856T>C | CA382711616 | APOC3 | c.272T>C (p.Val91Ala) c.326T>C (p.Val109Ala) | |
| 11 | g.116832856T>G | CA382711619 | APOC3 | c.272T>G (p.Val91Gly) c.326T>G (p.Val109Gly) | |
| 11 | g.116832857C>A | CA476868962 | APOC3 | c.273C>A (p.Val91=) c.327C>A (p.Val109=) | gnomAD v4 |
| 11 | g.116832857C>G | CA476868963 | APOC3 | c.273C>G (p.Val91=) c.327C>G (p.Val109=) | |
| 11 | g.116832857C>T | CA476868964 | APOC3 | c.273C>T (p.Val91=) c.327C>T (p.Val109=) | |
| 11 | g.116832858A= | CA2002760309 | APOC3 | c.274A= (p.Arg92=) c.328A= (p.Arg110=) | |
| 11 | g.116832858A>C | CA476868965 | APOC3 | c.274A>C (p.Arg92=) c.328A>C (p.Arg110=) | |
| 11 | g.116832858A>G | CA229320966 | APOC3 | c.274A>G (p.Arg92Gly) c.328A>G (p.Arg110Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116832858A>T | CA382711624 | APOC3 | c.274A>T (p.Arg92Ter) c.328A>T (p.Arg110Ter) | |
| 11 | g.116832859G>A | CA382711627 | APOC3 | c.275G>A (p.Arg92Lys) c.329G>A (p.Arg110Lys) | |
| 11 | g.116832859G>C | CA6289702 | APOC3 | c.275G>C (p.Arg92Thr) c.329G>C (p.Arg110Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116832859G= | CA2002760310 | APOC3 | c.275G= (p.Arg92=) c.329G= (p.Arg110=) | |
| 11 | g.116832859G>T | CA382711632 | APOC3 | c.275G>T (p.Arg92Ile) c.329G>T (p.Arg110Ile) | |
| 11 | g.116832860A>C | CA382711637 | APOC3 | c.276A>C (p.Arg92Ser) c.330A>C (p.Arg110Ser) | |
| 11 | g.116832860A>G | CA476868966 | APOC3 | c.276A>G (p.Arg92=) c.330A>G (p.Arg110=) | |
| 11 | g.116832860A>T | CA382711639 | APOC3 | c.276A>T (p.Arg92Ser) c.330A>T (p.Arg110Ser) | |
| 11 | g.116832861C>A | CA382711643 | APOC3 | c.277C>A (p.Pro93Thr) c.331C>A (p.Pro111Thr) | |
| 11 | g.116832861C= | CA2002760311 | APOC3 | c.277C= (p.Pro93=) c.331C= (p.Pro111=) | |
| 11 | g.116832861C>G | CA382711646 | APOC3 | c.277C>G (p.Pro93Ala) c.331C>G (p.Pro111Ala) | |
| 11 | g.116832861C>T | CA382711648 | APOC3 | c.277C>T (p.Pro93Ser) c.331C>T (p.Pro111Ser) | dbSNP gnomAD v4 |
| 11 | g.116832862C>A | CA382711660 | APOC3 | c.278C>A (p.Pro93Gln) c.332C>A (p.Pro111Gln) | COSMIC |
| 11 | g.116832862C>G | CA382711652 | APOC3 | c.278C>G (p.Pro93Arg) c.332C>G (p.Pro111Arg) | |
| 11 | g.116832862C>T | CA382711657 | APOC3 | c.278C>T (p.Pro93Leu) c.332C>T (p.Pro111Leu) | gnomAD v4 |
| 11 | g.116832862_116832863delinsCA | CA2002760312 | APOC3 | c.278_279delinsCA (p.Pro93=) c.332_333delinsCA (p.Pro111=) | |
| 11 | g.116832863A>C | CA476868967 | APOC3 | c.279A>C (p.Pro93=) c.333A>C (p.Pro111=) | |
| 11 | g.116832863A>G | CA476868968 | APOC3 | c.279A>G (p.Pro93=) c.333A>G (p.Pro111=) | |
| 11 | g.116832863A>T | CA476868969 | APOC3 | c.279A>T (p.Pro93=) c.333A>T (p.Pro111=) | |
| 11 | g.116832864del | CA6289703 | APOC3 | c.280del (p.Thr94LeufsTer?) c.334del (p.Thr112LeufsTer?) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116832864A= | CA2002760313 | APOC3 | c.280A= (p.Thr94=) c.334A= (p.Thr112=) | |
| 11 | g.116832864A>C | CA382711667 | APOC3 | c.280A>C (p.Thr94Pro) c.334A>C (p.Thr112Pro) | |
| 11 | g.116832864A>G | CA127528 | APOC3 | c.280A>G (p.Thr94Ala) c.334A>G (p.Thr112Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116832864A>T | CA382711673 | APOC3 | c.280A>T (p.Thr94Ser) c.334A>T (p.Thr112Ser) | |
| 11 | g.116832865C>A | CA382711677 | APOC3 | c.281C>A (p.Thr94Asn) c.335C>A (p.Thr112Asn) | |
| 11 | g.116832865C>G | CA382711683 | APOC3 | c.281C>G (p.Thr94Ser) c.335C>G (p.Thr112Ser) | |
| 11 | g.116832865C>T | CA382711689 | APOC3 | c.281C>T (p.Thr94Ile) c.335C>T (p.Thr112Ile) | gnomAD v4 |
| 11 | g.116832866T>A | CA476868970 | APOC3 | c.282T>A (p.Thr94=) c.336T>A (p.Thr112=) | |
| 11 | g.116832866T>C | CA6289704 | APOC3 | c.282T>C (p.Thr94=) c.336T>C (p.Thr112=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116832866T>G | CA476868971 | APOC3 | c.282T>G (p.Thr94=) c.336T>G (p.Thr112=) | |
| 11 | g.116832866T= | CA2002760314 | APOC3 | c.282T= (p.Thr94=) c.336T= (p.Thr112=) | |
| 11 | g.116832867T>A | CA382711697 | APOC3 | c.283T>A (p.Ser95Thr) c.337T>A (p.Ser113Thr) | |
| 11 | g.116832867T>C | CA382711704 | APOC3 | c.283T>C (p.Ser95Pro) c.337T>C (p.Ser113Pro) | |
| 11 | g.116832867T>G | CA382711706 | APOC3 | c.283T>G (p.Ser95Ala) c.337T>G (p.Ser113Ala) | |
| 11 | g.116832868C>A | CA382711719 | APOC3 | c.284C>A (p.Ser95Ter) c.338C>A (p.Ser113Ter) | |
| 11 | g.116832868C>G | CA382711716 | APOC3 | c.284C>G (p.Ser95Ter) c.338C>G (p.Ser113Ter) | |
| 11 | g.116832868C>T | CA382711712 | APOC3 | c.284C>T (p.Ser95Leu) c.338C>T (p.Ser113Leu) | |
| 11 | g.116832869A>C | CA476868974 | APOC3 | c.285A>C (p.Ser95=) c.339A>C (p.Ser113=) | |
| 11 | g.116832869A>G | CA476868973 | APOC3 | c.285A>G (p.Ser95=) c.339A>G (p.Ser113=) | gnomAD v4 COSMIC |
| 11 | g.116832869A>T | CA476868972 | APOC3 | c.285A>T (p.Ser95=) c.339A>T (p.Ser113=) | |
| 11 | g.116832870G>A | CA382711725 | APOC3 | c.286G>A (p.Ala96Thr) c.340G>A (p.Ala114Thr) | |
| 11 | g.116832870G>C | CA382711734 | APOC3 | c.286G>C (p.Ala96Pro) c.340G>C (p.Ala114Pro) | |
| 11 | g.116832870G>T | CA382711732 | APOC3 | c.286G>T (p.Ala96Ser) c.340G>T (p.Ala114Ser) | |
| 11 | g.116832871C>A | CA382711737 | APOC3 | c.287C>A (p.Ala96Asp) c.341C>A (p.Ala114Asp) | |
| 11 | g.116832871C= | CA2002760315 | APOC3 | c.287C= (p.Ala96=) c.341C= (p.Ala114=) | |
| 11 | g.116832871C>G | CA382711741 | APOC3 | c.287C>G (p.Ala96Gly) c.341C>G (p.Ala114Gly) | |
| 11 | g.116832871C>T | CA382711744 | APOC3 | c.287C>T (p.Ala96Val) c.341C>T (p.Ala114Val) | dbSNP gnomAD v2 gnomAD v4 |
| 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 |