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