| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.116830247_116836307delinsAGACAGAGGGCCTGAGGCAGGAGATGAGCAAGGATCTGGAGGAGGTGAAGGCCAAGGTGCAGCCCTACCTGGACGACTTCCAGAAGAAGTGGCAGGAGGAGATGGAGCTCTACCGCCAGAAGGTGGAGCCGCTGCGCGCAGAGCTCCAAGAGGGCGCGCGCCAGAAGCTGCACGAGCTGCAAGAGAAGCTGAGCCCACTGGGCGAGGAGATGCGCGACCGCGCGCGCGCCCATGTGGACGCGCTGCGCACGCATCTGGCCCCCTACAGCGACGAGCTGCGCCAGCGCTTGGCCGCGCGCCTTGAGGCTCTCAAGGAGAACGGCGGCGCCAGACTGGCCGAGTACCACGCCAAGGCCACCGAGCATCTGAGCACGCTCAGCGAGAAGGCCAAGCCCGCGCTCGAGGACCTCCGCCAAGGCCTGCTGCCCGTGCTGGAGAGCTTCAAGGTCAGCTTCCTGAGCGCTCTCGAGGAGTACACTAAGAAGCTCAACACCCAGTGAGGCGCCCGCCGCCGCCCCCCTTCCCGGTGCTCAGAATAAACGTTTCCAAAGTGGGAAGCAGCTTCTTTCTTTTGGGAGAATAGAGGGGGGTGCGGGGACATCCGGGGGAGCCCGGGTGGGGCCTTTGGCCCTGGAGCAGGGACTTCCTGCCGGATCTCAACAACTCCGTGCCCAGACTGGACGTCTTAGGGCCAAGATCGACGTTGGAGGACCTGCTGGACGCCTGGCTGCTTACGAGTGAGGGAGTAGAGTCTGCCTTAGCAAGGCTCAAGTAGAAAGGAAGTCACAGCGGACCAGGCAAAGCCACAGACAATCCAAGGCCAGGTGCCCTGAAAGGGGCTCAAACAAGGCCTGCAGCCCTGTCTGAGGCGGGCCAGGAAACAGGGTTGCTTTAGCTGGGAGCAGTGGGTTCCCCGTCCCCAGAGGTGTGTCCGTATAGAGCCTTCTCCAGCCCAGCCGCTGTCAGCGGGGCGGGACGGAGCGGGGCGGCCTCAGGGAGCCAGCCACTGGGATTGGGGTTTGGTCCCGGGTGCAAGTGAAGCGCTTGGAGTTTGCGCCTGTCCTCCTTTACTAATTCAAAAACCTCTCAAACAGACACTTCCCTTTTCTTCTCACAAGGCCAGTATCCCCCTCCCACTACTCCCATCCCGCCCAGAAACAGCCGCGGCTTCCTCAGGCACAGCAGTGGAAGCCAGTCCTCCACCCCCTGCGGCTCCATGCCATGCCACCCCCTCTTTCTGCCAGCCCTGGCAGAAGCTGGCCTGAGTAAGAAAATTCACCACCACCTCTTGCAGGTACATTTTTATTTCCAAGATGCTCTCATATCTGTGCTCTCACTGCATCCTCCCTTCCCCACATCCTGGCTAGATTGCCATCAGACGCAGAGCATGGATGAGGACACTGAAGCCTGGACCTGTGACGTCGCTTGCCCAGTGAACAGCAGGATGGGCTAGGCCGCGCTTTTTAGACCCTGCACCCCTGGCCATCCATGATTATTGAAAAGAGTGCGCGGGTCGGGTGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGTATCACTTCAGGCCAGGAGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATCAGCTGGGCATGGTGGCTTGCACCCGTAATCCCAGCTACTAGGAAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTCACAGTGAGCCGAAATCATGCCACTGCACTCCAGCCTGGGCGACGGAGCAAGACTCCAGCTAAAAAAAAAAAAAAAAAAAAAAGAGTGTGTGGCCTGGCACTCAAGTTCACATGGGTGTGCAGGCATGCCTGTGTATTCTCACATGACCTCCCTGCTCACGGTCCCTCCTTGCACTCATGTCTGAATGTCCCCGCGTGCACGCACATGGCTTCACAGATCTGGGCAGTGCCTTCCCTACCCTCTCTCTGCAGGGCCTTTTGCCCCCTCATGCAGGCCCCTGGATAATCGGCCCCATCCCCATGTCCCCATCTCCAGTGTATCTTAGCTACCCTAGGTAAAGGAGTGGGCTTTTTAGTTCCTAACCTTCCAGAGCTACAACAGCAGTCATCCAGCCAGGTCTGGGTGGGAACATTTTCTAGATACGGGTGCTGAGATCTCTCAGCCCAGAGAGAAGCCCTGGGGAATTTTCAGAGAGAAAGCAGTCTCCAGGTGGGGCTGGATGTACTGATGCCACTGAGATCTGTAAAGGAGTCCCTAACACCTGACATAGGAGTGACAAAACTGTTTTCTGCACCAACTGAGCAGAATACACGCAGCTGACCTGGGCTCAAGGTCTGGCCCTGCCACGTGCTGGCTCTGTGATGCTGGCCAAGTGCCTTCGCCTCTCCGGGCCACAGTTTTTTGATCTGAAGAGTGGAGCCCTACTCAAGCCATCTGCAGCTCTCGGGCTCTCTGACCTGACATCTTTCGGGTGGTGGGGACACAAAGGAAGCAGCCTCTATTGGGAGACCTTGTGCTTCTTTTTGGTCCCAGGACACTGCCCCCCACCACTCCAGTCCGGGTCCCAAGGGCCCAGTCAGCTCAACTGTAATCATGACAACATTGATCAAGCATCTTTACGTGCAGGTGCTGTGCCAAACGGTTCGAACGCTCTCTCATTTCAATCTCACGGCAAACCTACGGTGGAGGGGGTACGGTTGTATCCACTTTACATGTAAGAAACTGAGGCTGATATCAAGTGGTGGAGCCAAGAATAGTGCCTCGTTGCATCTTACTCCAACCTCTAGCCCATCCGGCCTCCTCCCTTCACGTGCGCCTAAGAGGGCTAGGGGGCCTGGATAGGGGAGGTCAGCTCCACAGTTTTGAGTAAACACACACAGTCTCAACTCTGATGACAACTTAAGTGCCAGGCATAGTGGCTGGCATGGGGCACACACTCAAGTCATGTTGTGCAGCACCTAACAGTTTATCAAAGTATCAGCAAACTTATTGTCCTGTTTGACCTTCCGCACAAAGCTGTCAAGGAAGGCAGGGTACGGAGGGTGATTCCTACCTTAGAGATGAAGAAACTGAGGCCCAGAGACTGCCCAGCTACCAGAAGGTGGATAGAGCGCTGGCCTCCATGCCTGCCTGACCTGGAGTCTGTCCAGTGCCCACCCACAGAACAGCCTCGGCCCTTTCCCATGCCCAGACACAGATGGCACACTTGCGACGGCCCACTCATAGCAGCTTCTTGTCCAGCTTTATTGGGAGGCCAGCATGCCTGGAGGGGGGCCAGGCATGAGGTGGGGTAGGAGAGCACTGAGAATACTGTCCCTTTTAAGCAACCTACAGGGGCAGCCCTGGAGATTGCAGGACCCAAGGAGCTCGCAGGATGGATAGGCAGGTGGACTTGGGGTATTGAGGTCTCAGGCAGCCACGGCTGAAGTTGGTCTGACCTCAGGGTCCAAATCCCAGAACTCAGAGAACTTGTCCTTAACGGTGCTCCAGTAGTCTTTCAGGGAACTGAAGCCATCGGTCACCCAGCCCCTAAATCAGTCAGGGGAAGCAACAGAGCAGGGCATGAGAACTCCTCTGTAGGCAACCATGGGACCCACACCCATGTCCCCACTGGACGACACCAGTCAGGACCACACCACCCTCTCAACTTCACTGGACGACAGCCCTGAGACCTCAGGCAGGAATCCCCCACAGCTGCCACCCTGGGAGAAGAGATATCCTTGCAGGAACCCCAGCACAAGTCAAACCCTGCCATCTCCAGGTCACCTCAGATGTTTATGCCCCTGGGCCTGAGGCACAAAGTGACAGGGTGGGGAGATGTGAAAGGTCAAGGCTGTCATTGTTTTCTGTGCAAACAGCACCGCCTGGAGTTGCACAACCTGGTGGCTCTGAGCAGGGTAGGACAGAGGGAGGCAGCCTCTCATTTGGAAAGTCATTGGAGGATTGATTAGTTGTGTGATCTGGGGCAGGTCACCTAATCGCTCTGAGCCTCAATTTTCTCATCTGCAAAGTGAGAAAATAACACCTACCCCAAAGCCGGTTCTGGGGACTAAGAATGTTTATGAACACCTCTGCTATGCCAGCTAATGCCAGTCAGGGTGAGGTGGAGAAGGGAGTAGGGGAGAGGAGAGTACTGATGGGCAGGGGCAGGATGGGAGAGGAAGGACACACTTCTGCTCACACTGGCCCCAGGTCTTAGAACAAAGCAGAAGCACTCACGGGCTTGAATTGGGTCAGGTGGGGCCTCCCAAGGCAAACCCCTAGCCCAGGGGTCCCCAACCCCCAAGTCATAGATAGGTACTGGTCCATGGACTGTTAGGAGCCGGGCTGCACAGCACGAAGTGAGTGGTGGGTGAGTGAGCAATACCGCCTGAGCTCCGCCTCCTGTCAGATCAAGTGGCCTTACATTCTCATAGGAGTGTGAACCCTATTGTGAACTGCACATGCCAGGGATCTAGGTGGAGGGCTCCTTATGAGAATCTAATGCCTGATGATCTGAGGTGGAACAGCTTCATCCCAAAACCATCCCCGCTGGCCCATGGAAAAATTGTCCACCACAAAACTGGTCCCTGGTGCCAAAAAGGCTGAGGACCACTGCTCTAGCCAGACCTTCAGAAAAGGAAAATGGGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCCCCTGAGGTCAGGAATTCAAGACCAACCTGGCCAACATGGTGAAACCCCATCTCTGCTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGGTTGAACCCGGGAGACGGAGGTTGCAGTGAGCCGAGATGGCACCACTGCACTCCAGCCTAGGTGACAGAGGGAGACTCCATTAAAAAAAAAAGAAGAAGAAAGAAAGAGAGAAAGGAAGAGAGGGAAAGAAAGAAAAAGGAAAGAAAGAAAGAAAGAGAAAGAAAGGAAAGAAAGAAAGAAAGGAAAGAAAGAAAGGAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAATAGAAAGAGAAAGAAAGGGAAAGGAAAGGAAAATGGAAATGAGGGCTAAAACGGCACGCCCTAGGACTGCTCCGGGGAGAAAGGAGGGACCTGGGAGGAATGCAGTCTCAACTCTGTCATCTCTCCCGCAGCAGCCTGACAAAGGCCCTGTGAGGAAAGAGGAGGCTGAAGAGGCACAGGCCCAGGGGAGGCTGGAGCACCTCCATTCCATTGTTGGGATCTCACCAGGGCAGGGGCGGGTGGGAATGGAGGCAGCTGGCAGGGGGGATGGGGAGGGAGGCCAGCGGGTGTACCTGGCCTGCTGGGCCACCTGGGACTCCTGCACGCTGCTCAGTGCATCCTTGGCGGTCTTGGTGGCGTGCTTCATGTAACCCTGCATGAAGCTGAGAAGGGAGGCATCCTCGGCCTCTGAAGCTCCTGAGGAAAGAGCAGGGCTGAGTGGGGTGGATCGGCCTCTGGACGAGCCCTGGGCTCCTGCTTGACCACCCATTGGGACTGGGATCCCCAAGTTGCCTCCACCCTGCCCCCAGCCCAGTCCCACCAAGTGCTTACGGGCAGAGGCCAGGAGCGCCAGGAGGGCAACAACAAGGAGTACCCGGGGCTGCATGGCACCTCTGTTCCTGCAAGGAAGTGTCCTGTGAGGGGCACCCCAGGTCCCCATGCCTCTGGACCCCTCCCTGGGGAGGTGGCGTGGCCCCTAAGGTAGAACCTTAGCTGGGTCTGCCAGAAGGAGTAGGGGCCGGCTCCCTGCTAATACGGGCTCTCAGAAGGGGGACTGGTGAGGGGCGAGGGATCGAGGCCCAAAGGGAGGTGGGTGGGATGGAGCAGAAAACCCACCAGACTGAACATCAAGGCACCTGCGGTCTGGACTGATCTCCGTCCAGTCCAGCCAACATGCTGTGTGTCTTTGGGTGATTTCTGGCCCTCTCCAGGCCTCAGTTTC | CA2697558960 | ClinVar | ||
| 11 | g.116832996C>A | CA2616111350 | APOC3 | c.*112C>A (n.*112C>A) c.466C>A (n.466C>A) | gnomAD v4 |
| 11 | g.116832996C= | CA2002760384 | APOC3 | c.*112C= (n.*112C=) c.466C= (n.466C=) | |
| 11 | g.116832996C>T | CA229321221 | APOC3 | c.*112C>T (n.*112C>T) c.466C>T (n.466C>T) | dbSNP gnomAD v4 |
| 11 | g.116832997T>A | CA2616111351 | APOC3 | c.*113T>A (n.*113T>A) c.467T>A (n.467T>A) | gnomAD v4 |
| 11 | g.116832997T>C | CA2616111352 | APOC3 | c.*113T>C (n.*113T>C) c.467T>C (n.467T>C) | gnomAD v4 |
| 11 | g.116832998C>A | CA2616111353 | APOC3 | c.*114C>A (n.*114C>A) c.468C>A (n.468C>A) | gnomAD v4 |
| 11 | g.116832999C>A | CA2616111354 | APOC3 | c.*115C>A (n.*115C>A) c.469C>A (n.469C>A) | gnomAD v4 |
| 11 | g.116832999C>T | CA2616111355 | APOC3 | c.*115C>T (n.*115C>T) c.469C>T (n.469C>T) | gnomAD v4 |
| 11 | g.116833000T>C | CA601826043 | APOC3 | c.*116T>C (n.*116T>C) c.470T>C (n.470T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116833000T= | CA2002760385 | APOC3 | c.*116T= (n.*116T=) c.470T= (n.470T=) | |
| 11 | g.116833001A= | CA2002760386 | APOC3 | c.*117A= (n.*117A=) c.471A= (n.471A=) | |
| 11 | g.116833001A>C | CA2002760387 | APOC3 | c.*117A>C (n.*117A>C) c.471A>C (n.471A>C) | dbSNP |
| 11 | g.116833001_116833003dup | CA2616111356 | APOC3 | c.*117_*119dup (n.*117_*119dup) c.471_473dup (n.471_473dup) | gnomAD v4 |
| 11 | g.116833002C>A | CA229321222 | APOC3 | c.*118C>A (n.*118C>A) c.472C>A (n.472C>A) | dbSNP gnomAD v4 |
| 11 | g.116833002C= | CA2002760388 | APOC3 | c.*118C= (n.*118C=) c.472C= (n.472C=) | |
| 11 | g.116833002C>T | CA2616111357 | APOC3 | c.*118C>T (n.*118C>T) c.472C>T (n.472C>T) | gnomAD v4 |
| 11 | g.116833003C= | CA2002760389 | APOC3 | c.*119C= (n.*119C=) c.473C= (n.473C=) | |
| 11 | g.116833003C>G | CA2616111358 | APOC3 | c.*119C>G (n.*119C>G) c.473C>G (n.473C>G) | gnomAD v4 |
| 11 | g.116833003C>T | CA229321223 | APOC3 | c.*119C>T (n.*119C>T) c.473C>T (n.473C>T) | dbSNP gnomAD v4 |
| 11 | g.116833004C>A | CA2616111360 | APOC3 | c.*120C>A (n.*120C>A) c.474C>A (n.474C>A) | gnomAD v4 |
| 11 | g.116833004C>G | CA2616111361 | APOC3 | c.*120C>G (n.*120C>G) c.474C>G (n.474C>G) | gnomAD v4 |
| 11 | g.116833004C>T | CA2616111359 | APOC3 | c.*120C>T (n.*120C>T) c.474C>T (n.474C>T) | gnomAD v4 |
| 11 | g.116833005C>A | CA2002760390 | APOC3 | c.*121C>A (n.*121C>A) c.475C>A (n.475C>A) | dbSNP gnomAD v4 |
| 11 | g.116833005C= | CA2002760391 | APOC3 | c.*121C= (n.*121C=) c.475C= (n.475C=) | |
| 11 | g.116833006A= | CA2002760392 | APOC3 | c.*122A= (n.*122A=) c.476A= (n.476A=) | |
| 11 | g.116833006A>C | CA2002760393 | APOC3 | c.*122A>C (n.*122A>C) c.476A>C (n.476A>C) | dbSNP gnomAD v4 |
| 11 | g.116833006A>G | CA2616111362 | APOC3 | c.*122A>G (n.*122A>G) c.476A>G (n.476A>G) | gnomAD v4 |
| 11 | g.116833007C>A | CA2616111363 | APOC3 | c.*123C>A (n.*123C>A) c.477C>A (n.477C>A) | gnomAD v4 |
| 11 | g.116833007C= | CA2002760394 | APOC3 | c.*123C= (n.*123C=) c.477C= (n.477C=) | |
| 11 | g.116833007C>T | CA601826259 | APOC3 | c.*123C>T (n.*123C>T) c.477C>T (n.477C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116833008C= | CA2002760395 | APOC3 | c.*124C= (n.*124C=) c.478C= (n.478C=) | |
| 11 | g.116833008C>T | CA601826261 | APOC3 | c.*124C>T (n.*124C>T) c.478C>T (n.478C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116833009T>A | CA2616111364 | APOC3 | c.*125T>A (n.*125T>A) c.479T>A (n.479T>A) | gnomAD v4 |
| 11 | g.116833009T>G | CA672202410 | APOC3 | c.*125T>G (n.*125T>G) c.479T>G (n.479T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116833009T= | CA2002760396 | APOC3 | c.*125T= (n.*125T=) c.479T= (n.479T=) | |
| 11 | g.116833010C>A | CA2616111365 | APOC3 | c.*126C>A (n.*126C>A) c.480C>A (n.480C>A) | gnomAD v4 |
| 11 | g.116833011A>C | CA2616111366 | APOC3 | c.*127A>C (n.*127A>C) c.481A>C (n.481A>C) | gnomAD v4 |
| 11 | g.116833012T>C | CA2616111367 | APOC3 | c.*128T>C (n.*128T>C) c.482T>C (n.482T>C) | gnomAD v4 |
| 11 | g.116833013G= | CA2002760397 | APOC3 | c.*129G= (n.*129G=) c.483G= (n.483G=) | |
| 11 | g.116833013G>T | CA2002760398 | APOC3 | c.*129G>T (n.*129G>T) c.483G>T (n.483G>T) | dbSNP gnomAD v4 |
| 11 | g.116833014C>A | CA2002760399 | APOC3 | c.*130C>A (n.*130C>A) c.484C>A (n.484C>A) | dbSNP gnomAD v4 |
| 11 | g.116833014C= | CA2002760400 | APOC3 | c.*130C= (n.*130C=) c.484C= (n.484C=) | |
| 11 | g.116833014C>T | CA601826262 | APOC3 | c.*130C>T (n.*130C>T) c.484C>T (n.484C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116833015C>A | CA2616111368 | APOC3 | c.*131C>A (n.*131C>A) c.485C>A (n.485C>A) | gnomAD v4 |
| 11 | g.116833015C>T | CA2616111369 | APOC3 | c.*131C>T (n.*131C>T) c.485C>T (n.485C>T) | gnomAD v4 |
| 11 | g.116833016T>C | CA229321225 | APOC3 | c.*132T>C (n.*132T>C) c.486T>C (n.486T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116833016T= | CA2002760401 | APOC3 | c.*132T= (n.*132T=) c.486T= (n.486T=) | |
| 11 | g.116833017G>A | CA2616111370 | APOC3 | c.*133G>A (n.*133G>A) c.487G>A (n.487G>A) | gnomAD v4 |
| 11 | g.116833017G>T | CA2616111371 | APOC3 | c.*133G>T (n.*133G>T) c.487G>T (n.487G>T) | gnomAD v4 |