| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.116830247_116836307delinsAGACAGAGGGCCTGAGGCAGGAGATGAGCAAGGATCTGGAGGAGGTGAAGGCCAAGGTGCAGCCCTACCTGGACGACTTCCAGAAGAAGTGGCAGGAGGAGATGGAGCTCTACCGCCAGAAGGTGGAGCCGCTGCGCGCAGAGCTCCAAGAGGGCGCGCGCCAGAAGCTGCACGAGCTGCAAGAGAAGCTGAGCCCACTGGGCGAGGAGATGCGCGACCGCGCGCGCGCCCATGTGGACGCGCTGCGCACGCATCTGGCCCCCTACAGCGACGAGCTGCGCCAGCGCTTGGCCGCGCGCCTTGAGGCTCTCAAGGAGAACGGCGGCGCCAGACTGGCCGAGTACCACGCCAAGGCCACCGAGCATCTGAGCACGCTCAGCGAGAAGGCCAAGCCCGCGCTCGAGGACCTCCGCCAAGGCCTGCTGCCCGTGCTGGAGAGCTTCAAGGTCAGCTTCCTGAGCGCTCTCGAGGAGTACACTAAGAAGCTCAACACCCAGTGAGGCGCCCGCCGCCGCCCCCCTTCCCGGTGCTCAGAATAAACGTTTCCAAAGTGGGAAGCAGCTTCTTTCTTTTGGGAGAATAGAGGGGGGTGCGGGGACATCCGGGGGAGCCCGGGTGGGGCCTTTGGCCCTGGAGCAGGGACTTCCTGCCGGATCTCAACAACTCCGTGCCCAGACTGGACGTCTTAGGGCCAAGATCGACGTTGGAGGACCTGCTGGACGCCTGGCTGCTTACGAGTGAGGGAGTAGAGTCTGCCTTAGCAAGGCTCAAGTAGAAAGGAAGTCACAGCGGACCAGGCAAAGCCACAGACAATCCAAGGCCAGGTGCCCTGAAAGGGGCTCAAACAAGGCCTGCAGCCCTGTCTGAGGCGGGCCAGGAAACAGGGTTGCTTTAGCTGGGAGCAGTGGGTTCCCCGTCCCCAGAGGTGTGTCCGTATAGAGCCTTCTCCAGCCCAGCCGCTGTCAGCGGGGCGGGACGGAGCGGGGCGGCCTCAGGGAGCCAGCCACTGGGATTGGGGTTTGGTCCCGGGTGCAAGTGAAGCGCTTGGAGTTTGCGCCTGTCCTCCTTTACTAATTCAAAAACCTCTCAAACAGACACTTCCCTTTTCTTCTCACAAGGCCAGTATCCCCCTCCCACTACTCCCATCCCGCCCAGAAACAGCCGCGGCTTCCTCAGGCACAGCAGTGGAAGCCAGTCCTCCACCCCCTGCGGCTCCATGCCATGCCACCCCCTCTTTCTGCCAGCCCTGGCAGAAGCTGGCCTGAGTAAGAAAATTCACCACCACCTCTTGCAGGTACATTTTTATTTCCAAGATGCTCTCATATCTGTGCTCTCACTGCATCCTCCCTTCCCCACATCCTGGCTAGATTGCCATCAGACGCAGAGCATGGATGAGGACACTGAAGCCTGGACCTGTGACGTCGCTTGCCCAGTGAACAGCAGGATGGGCTAGGCCGCGCTTTTTAGACCCTGCACCCCTGGCCATCCATGATTATTGAAAAGAGTGCGCGGGTCGGGTGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGTATCACTTCAGGCCAGGAGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATCAGCTGGGCATGGTGGCTTGCACCCGTAATCCCAGCTACTAGGAAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTCACAGTGAGCCGAAATCATGCCACTGCACTCCAGCCTGGGCGACGGAGCAAGACTCCAGCTAAAAAAAAAAAAAAAAAAAAAAGAGTGTGTGGCCTGGCACTCAAGTTCACATGGGTGTGCAGGCATGCCTGTGTATTCTCACATGACCTCCCTGCTCACGGTCCCTCCTTGCACTCATGTCTGAATGTCCCCGCGTGCACGCACATGGCTTCACAGATCTGGGCAGTGCCTTCCCTACCCTCTCTCTGCAGGGCCTTTTGCCCCCTCATGCAGGCCCCTGGATAATCGGCCCCATCCCCATGTCCCCATCTCCAGTGTATCTTAGCTACCCTAGGTAAAGGAGTGGGCTTTTTAGTTCCTAACCTTCCAGAGCTACAACAGCAGTCATCCAGCCAGGTCTGGGTGGGAACATTTTCTAGATACGGGTGCTGAGATCTCTCAGCCCAGAGAGAAGCCCTGGGGAATTTTCAGAGAGAAAGCAGTCTCCAGGTGGGGCTGGATGTACTGATGCCACTGAGATCTGTAAAGGAGTCCCTAACACCTGACATAGGAGTGACAAAACTGTTTTCTGCACCAACTGAGCAGAATACACGCAGCTGACCTGGGCTCAAGGTCTGGCCCTGCCACGTGCTGGCTCTGTGATGCTGGCCAAGTGCCTTCGCCTCTCCGGGCCACAGTTTTTTGATCTGAAGAGTGGAGCCCTACTCAAGCCATCTGCAGCTCTCGGGCTCTCTGACCTGACATCTTTCGGGTGGTGGGGACACAAAGGAAGCAGCCTCTATTGGGAGACCTTGTGCTTCTTTTTGGTCCCAGGACACTGCCCCCCACCACTCCAGTCCGGGTCCCAAGGGCCCAGTCAGCTCAACTGTAATCATGACAACATTGATCAAGCATCTTTACGTGCAGGTGCTGTGCCAAACGGTTCGAACGCTCTCTCATTTCAATCTCACGGCAAACCTACGGTGGAGGGGGTACGGTTGTATCCACTTTACATGTAAGAAACTGAGGCTGATATCAAGTGGTGGAGCCAAGAATAGTGCCTCGTTGCATCTTACTCCAACCTCTAGCCCATCCGGCCTCCTCCCTTCACGTGCGCCTAAGAGGGCTAGGGGGCCTGGATAGGGGAGGTCAGCTCCACAGTTTTGAGTAAACACACACAGTCTCAACTCTGATGACAACTTAAGTGCCAGGCATAGTGGCTGGCATGGGGCACACACTCAAGTCATGTTGTGCAGCACCTAACAGTTTATCAAAGTATCAGCAAACTTATTGTCCTGTTTGACCTTCCGCACAAAGCTGTCAAGGAAGGCAGGGTACGGAGGGTGATTCCTACCTTAGAGATGAAGAAACTGAGGCCCAGAGACTGCCCAGCTACCAGAAGGTGGATAGAGCGCTGGCCTCCATGCCTGCCTGACCTGGAGTCTGTCCAGTGCCCACCCACAGAACAGCCTCGGCCCTTTCCCATGCCCAGACACAGATGGCACACTTGCGACGGCCCACTCATAGCAGCTTCTTGTCCAGCTTTATTGGGAGGCCAGCATGCCTGGAGGGGGGCCAGGCATGAGGTGGGGTAGGAGAGCACTGAGAATACTGTCCCTTTTAAGCAACCTACAGGGGCAGCCCTGGAGATTGCAGGACCCAAGGAGCTCGCAGGATGGATAGGCAGGTGGACTTGGGGTATTGAGGTCTCAGGCAGCCACGGCTGAAGTTGGTCTGACCTCAGGGTCCAAATCCCAGAACTCAGAGAACTTGTCCTTAACGGTGCTCCAGTAGTCTTTCAGGGAACTGAAGCCATCGGTCACCCAGCCCCTAAATCAGTCAGGGGAAGCAACAGAGCAGGGCATGAGAACTCCTCTGTAGGCAACCATGGGACCCACACCCATGTCCCCACTGGACGACACCAGTCAGGACCACACCACCCTCTCAACTTCACTGGACGACAGCCCTGAGACCTCAGGCAGGAATCCCCCACAGCTGCCACCCTGGGAGAAGAGATATCCTTGCAGGAACCCCAGCACAAGTCAAACCCTGCCATCTCCAGGTCACCTCAGATGTTTATGCCCCTGGGCCTGAGGCACAAAGTGACAGGGTGGGGAGATGTGAAAGGTCAAGGCTGTCATTGTTTTCTGTGCAAACAGCACCGCCTGGAGTTGCACAACCTGGTGGCTCTGAGCAGGGTAGGACAGAGGGAGGCAGCCTCTCATTTGGAAAGTCATTGGAGGATTGATTAGTTGTGTGATCTGGGGCAGGTCACCTAATCGCTCTGAGCCTCAATTTTCTCATCTGCAAAGTGAGAAAATAACACCTACCCCAAAGCCGGTTCTGGGGACTAAGAATGTTTATGAACACCTCTGCTATGCCAGCTAATGCCAGTCAGGGTGAGGTGGAGAAGGGAGTAGGGGAGAGGAGAGTACTGATGGGCAGGGGCAGGATGGGAGAGGAAGGACACACTTCTGCTCACACTGGCCCCAGGTCTTAGAACAAAGCAGAAGCACTCACGGGCTTGAATTGGGTCAGGTGGGGCCTCCCAAGGCAAACCCCTAGCCCAGGGGTCCCCAACCCCCAAGTCATAGATAGGTACTGGTCCATGGACTGTTAGGAGCCGGGCTGCACAGCACGAAGTGAGTGGTGGGTGAGTGAGCAATACCGCCTGAGCTCCGCCTCCTGTCAGATCAAGTGGCCTTACATTCTCATAGGAGTGTGAACCCTATTGTGAACTGCACATGCCAGGGATCTAGGTGGAGGGCTCCTTATGAGAATCTAATGCCTGATGATCTGAGGTGGAACAGCTTCATCCCAAAACCATCCCCGCTGGCCCATGGAAAAATTGTCCACCACAAAACTGGTCCCTGGTGCCAAAAAGGCTGAGGACCACTGCTCTAGCCAGACCTTCAGAAAAGGAAAATGGGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCCCCTGAGGTCAGGAATTCAAGACCAACCTGGCCAACATGGTGAAACCCCATCTCTGCTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGGTTGAACCCGGGAGACGGAGGTTGCAGTGAGCCGAGATGGCACCACTGCACTCCAGCCTAGGTGACAGAGGGAGACTCCATTAAAAAAAAAAGAAGAAGAAAGAAAGAGAGAAAGGAAGAGAGGGAAAGAAAGAAAAAGGAAAGAAAGAAAGAAAGAGAAAGAAAGGAAAGAAAGAAAGAAAGGAAAGAAAGAAAGGAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAATAGAAAGAGAAAGAAAGGGAAAGGAAAGGAAAATGGAAATGAGGGCTAAAACGGCACGCCCTAGGACTGCTCCGGGGAGAAAGGAGGGACCTGGGAGGAATGCAGTCTCAACTCTGTCATCTCTCCCGCAGCAGCCTGACAAAGGCCCTGTGAGGAAAGAGGAGGCTGAAGAGGCACAGGCCCAGGGGAGGCTGGAGCACCTCCATTCCATTGTTGGGATCTCACCAGGGCAGGGGCGGGTGGGAATGGAGGCAGCTGGCAGGGGGGATGGGGAGGGAGGCCAGCGGGTGTACCTGGCCTGCTGGGCCACCTGGGACTCCTGCACGCTGCTCAGTGCATCCTTGGCGGTCTTGGTGGCGTGCTTCATGTAACCCTGCATGAAGCTGAGAAGGGAGGCATCCTCGGCCTCTGAAGCTCCTGAGGAAAGAGCAGGGCTGAGTGGGGTGGATCGGCCTCTGGACGAGCCCTGGGCTCCTGCTTGACCACCCATTGGGACTGGGATCCCCAAGTTGCCTCCACCCTGCCCCCAGCCCAGTCCCACCAAGTGCTTACGGGCAGAGGCCAGGAGCGCCAGGAGGGCAACAACAAGGAGTACCCGGGGCTGCATGGCACCTCTGTTCCTGCAAGGAAGTGTCCTGTGAGGGGCACCCCAGGTCCCCATGCCTCTGGACCCCTCCCTGGGGAGGTGGCGTGGCCCCTAAGGTAGAACCTTAGCTGGGTCTGCCAGAAGGAGTAGGGGCCGGCTCCCTGCTAATACGGGCTCTCAGAAGGGGGACTGGTGAGGGGCGAGGGATCGAGGCCCAAAGGGAGGTGGGTGGGATGGAGCAGAAAACCCACCAGACTGAACATCAAGGCACCTGCGGTCTGGACTGATCTCCGTCCAGTCCAGCCAACATGCTGTGTGTCTTTGGGTGATTTCTGGCCCTCTCCAGGCCTCAGTTTC | CA2697558960 | ClinVar | ||
| 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 |