| 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) |