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