| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.116830247_116836307delinsAGACAGAGGGCCTGAGGCAGGAGATGAGCAAGGATCTGGAGGAGGTGAAGGCCAAGGTGCAGCCCTACCTGGACGACTTCCAGAAGAAGTGGCAGGAGGAGATGGAGCTCTACCGCCAGAAGGTGGAGCCGCTGCGCGCAGAGCTCCAAGAGGGCGCGCGCCAGAAGCTGCACGAGCTGCAAGAGAAGCTGAGCCCACTGGGCGAGGAGATGCGCGACCGCGCGCGCGCCCATGTGGACGCGCTGCGCACGCATCTGGCCCCCTACAGCGACGAGCTGCGCCAGCGCTTGGCCGCGCGCCTTGAGGCTCTCAAGGAGAACGGCGGCGCCAGACTGGCCGAGTACCACGCCAAGGCCACCGAGCATCTGAGCACGCTCAGCGAGAAGGCCAAGCCCGCGCTCGAGGACCTCCGCCAAGGCCTGCTGCCCGTGCTGGAGAGCTTCAAGGTCAGCTTCCTGAGCGCTCTCGAGGAGTACACTAAGAAGCTCAACACCCAGTGAGGCGCCCGCCGCCGCCCCCCTTCCCGGTGCTCAGAATAAACGTTTCCAAAGTGGGAAGCAGCTTCTTTCTTTTGGGAGAATAGAGGGGGGTGCGGGGACATCCGGGGGAGCCCGGGTGGGGCCTTTGGCCCTGGAGCAGGGACTTCCTGCCGGATCTCAACAACTCCGTGCCCAGACTGGACGTCTTAGGGCCAAGATCGACGTTGGAGGACCTGCTGGACGCCTGGCTGCTTACGAGTGAGGGAGTAGAGTCTGCCTTAGCAAGGCTCAAGTAGAAAGGAAGTCACAGCGGACCAGGCAAAGCCACAGACAATCCAAGGCCAGGTGCCCTGAAAGGGGCTCAAACAAGGCCTGCAGCCCTGTCTGAGGCGGGCCAGGAAACAGGGTTGCTTTAGCTGGGAGCAGTGGGTTCCCCGTCCCCAGAGGTGTGTCCGTATAGAGCCTTCTCCAGCCCAGCCGCTGTCAGCGGGGCGGGACGGAGCGGGGCGGCCTCAGGGAGCCAGCCACTGGGATTGGGGTTTGGTCCCGGGTGCAAGTGAAGCGCTTGGAGTTTGCGCCTGTCCTCCTTTACTAATTCAAAAACCTCTCAAACAGACACTTCCCTTTTCTTCTCACAAGGCCAGTATCCCCCTCCCACTACTCCCATCCCGCCCAGAAACAGCCGCGGCTTCCTCAGGCACAGCAGTGGAAGCCAGTCCTCCACCCCCTGCGGCTCCATGCCATGCCACCCCCTCTTTCTGCCAGCCCTGGCAGAAGCTGGCCTGAGTAAGAAAATTCACCACCACCTCTTGCAGGTACATTTTTATTTCCAAGATGCTCTCATATCTGTGCTCTCACTGCATCCTCCCTTCCCCACATCCTGGCTAGATTGCCATCAGACGCAGAGCATGGATGAGGACACTGAAGCCTGGACCTGTGACGTCGCTTGCCCAGTGAACAGCAGGATGGGCTAGGCCGCGCTTTTTAGACCCTGCACCCCTGGCCATCCATGATTATTGAAAAGAGTGCGCGGGTCGGGTGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGTATCACTTCAGGCCAGGAGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATCAGCTGGGCATGGTGGCTTGCACCCGTAATCCCAGCTACTAGGAAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTCACAGTGAGCCGAAATCATGCCACTGCACTCCAGCCTGGGCGACGGAGCAAGACTCCAGCTAAAAAAAAAAAAAAAAAAAAAAGAGTGTGTGGCCTGGCACTCAAGTTCACATGGGTGTGCAGGCATGCCTGTGTATTCTCACATGACCTCCCTGCTCACGGTCCCTCCTTGCACTCATGTCTGAATGTCCCCGCGTGCACGCACATGGCTTCACAGATCTGGGCAGTGCCTTCCCTACCCTCTCTCTGCAGGGCCTTTTGCCCCCTCATGCAGGCCCCTGGATAATCGGCCCCATCCCCATGTCCCCATCTCCAGTGTATCTTAGCTACCCTAGGTAAAGGAGTGGGCTTTTTAGTTCCTAACCTTCCAGAGCTACAACAGCAGTCATCCAGCCAGGTCTGGGTGGGAACATTTTCTAGATACGGGTGCTGAGATCTCTCAGCCCAGAGAGAAGCCCTGGGGAATTTTCAGAGAGAAAGCAGTCTCCAGGTGGGGCTGGATGTACTGATGCCACTGAGATCTGTAAAGGAGTCCCTAACACCTGACATAGGAGTGACAAAACTGTTTTCTGCACCAACTGAGCAGAATACACGCAGCTGACCTGGGCTCAAGGTCTGGCCCTGCCACGTGCTGGCTCTGTGATGCTGGCCAAGTGCCTTCGCCTCTCCGGGCCACAGTTTTTTGATCTGAAGAGTGGAGCCCTACTCAAGCCATCTGCAGCTCTCGGGCTCTCTGACCTGACATCTTTCGGGTGGTGGGGACACAAAGGAAGCAGCCTCTATTGGGAGACCTTGTGCTTCTTTTTGGTCCCAGGACACTGCCCCCCACCACTCCAGTCCGGGTCCCAAGGGCCCAGTCAGCTCAACTGTAATCATGACAACATTGATCAAGCATCTTTACGTGCAGGTGCTGTGCCAAACGGTTCGAACGCTCTCTCATTTCAATCTCACGGCAAACCTACGGTGGAGGGGGTACGGTTGTATCCACTTTACATGTAAGAAACTGAGGCTGATATCAAGTGGTGGAGCCAAGAATAGTGCCTCGTTGCATCTTACTCCAACCTCTAGCCCATCCGGCCTCCTCCCTTCACGTGCGCCTAAGAGGGCTAGGGGGCCTGGATAGGGGAGGTCAGCTCCACAGTTTTGAGTAAACACACACAGTCTCAACTCTGATGACAACTTAAGTGCCAGGCATAGTGGCTGGCATGGGGCACACACTCAAGTCATGTTGTGCAGCACCTAACAGTTTATCAAAGTATCAGCAAACTTATTGTCCTGTTTGACCTTCCGCACAAAGCTGTCAAGGAAGGCAGGGTACGGAGGGTGATTCCTACCTTAGAGATGAAGAAACTGAGGCCCAGAGACTGCCCAGCTACCAGAAGGTGGATAGAGCGCTGGCCTCCATGCCTGCCTGACCTGGAGTCTGTCCAGTGCCCACCCACAGAACAGCCTCGGCCCTTTCCCATGCCCAGACACAGATGGCACACTTGCGACGGCCCACTCATAGCAGCTTCTTGTCCAGCTTTATTGGGAGGCCAGCATGCCTGGAGGGGGGCCAGGCATGAGGTGGGGTAGGAGAGCACTGAGAATACTGTCCCTTTTAAGCAACCTACAGGGGCAGCCCTGGAGATTGCAGGACCCAAGGAGCTCGCAGGATGGATAGGCAGGTGGACTTGGGGTATTGAGGTCTCAGGCAGCCACGGCTGAAGTTGGTCTGACCTCAGGGTCCAAATCCCAGAACTCAGAGAACTTGTCCTTAACGGTGCTCCAGTAGTCTTTCAGGGAACTGAAGCCATCGGTCACCCAGCCCCTAAATCAGTCAGGGGAAGCAACAGAGCAGGGCATGAGAACTCCTCTGTAGGCAACCATGGGACCCACACCCATGTCCCCACTGGACGACACCAGTCAGGACCACACCACCCTCTCAACTTCACTGGACGACAGCCCTGAGACCTCAGGCAGGAATCCCCCACAGCTGCCACCCTGGGAGAAGAGATATCCTTGCAGGAACCCCAGCACAAGTCAAACCCTGCCATCTCCAGGTCACCTCAGATGTTTATGCCCCTGGGCCTGAGGCACAAAGTGACAGGGTGGGGAGATGTGAAAGGTCAAGGCTGTCATTGTTTTCTGTGCAAACAGCACCGCCTGGAGTTGCACAACCTGGTGGCTCTGAGCAGGGTAGGACAGAGGGAGGCAGCCTCTCATTTGGAAAGTCATTGGAGGATTGATTAGTTGTGTGATCTGGGGCAGGTCACCTAATCGCTCTGAGCCTCAATTTTCTCATCTGCAAAGTGAGAAAATAACACCTACCCCAAAGCCGGTTCTGGGGACTAAGAATGTTTATGAACACCTCTGCTATGCCAGCTAATGCCAGTCAGGGTGAGGTGGAGAAGGGAGTAGGGGAGAGGAGAGTACTGATGGGCAGGGGCAGGATGGGAGAGGAAGGACACACTTCTGCTCACACTGGCCCCAGGTCTTAGAACAAAGCAGAAGCACTCACGGGCTTGAATTGGGTCAGGTGGGGCCTCCCAAGGCAAACCCCTAGCCCAGGGGTCCCCAACCCCCAAGTCATAGATAGGTACTGGTCCATGGACTGTTAGGAGCCGGGCTGCACAGCACGAAGTGAGTGGTGGGTGAGTGAGCAATACCGCCTGAGCTCCGCCTCCTGTCAGATCAAGTGGCCTTACATTCTCATAGGAGTGTGAACCCTATTGTGAACTGCACATGCCAGGGATCTAGGTGGAGGGCTCCTTATGAGAATCTAATGCCTGATGATCTGAGGTGGAACAGCTTCATCCCAAAACCATCCCCGCTGGCCCATGGAAAAATTGTCCACCACAAAACTGGTCCCTGGTGCCAAAAAGGCTGAGGACCACTGCTCTAGCCAGACCTTCAGAAAAGGAAAATGGGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCCCCTGAGGTCAGGAATTCAAGACCAACCTGGCCAACATGGTGAAACCCCATCTCTGCTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGGTTGAACCCGGGAGACGGAGGTTGCAGTGAGCCGAGATGGCACCACTGCACTCCAGCCTAGGTGACAGAGGGAGACTCCATTAAAAAAAAAAGAAGAAGAAAGAAAGAGAGAAAGGAAGAGAGGGAAAGAAAGAAAAAGGAAAGAAAGAAAGAAAGAGAAAGAAAGGAAAGAAAGAAAGAAAGGAAAGAAAGAAAGGAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAATAGAAAGAGAAAGAAAGGGAAAGGAAAGGAAAATGGAAATGAGGGCTAAAACGGCACGCCCTAGGACTGCTCCGGGGAGAAAGGAGGGACCTGGGAGGAATGCAGTCTCAACTCTGTCATCTCTCCCGCAGCAGCCTGACAAAGGCCCTGTGAGGAAAGAGGAGGCTGAAGAGGCACAGGCCCAGGGGAGGCTGGAGCACCTCCATTCCATTGTTGGGATCTCACCAGGGCAGGGGCGGGTGGGAATGGAGGCAGCTGGCAGGGGGGATGGGGAGGGAGGCCAGCGGGTGTACCTGGCCTGCTGGGCCACCTGGGACTCCTGCACGCTGCTCAGTGCATCCTTGGCGGTCTTGGTGGCGTGCTTCATGTAACCCTGCATGAAGCTGAGAAGGGAGGCATCCTCGGCCTCTGAAGCTCCTGAGGAAAGAGCAGGGCTGAGTGGGGTGGATCGGCCTCTGGACGAGCCCTGGGCTCCTGCTTGACCACCCATTGGGACTGGGATCCCCAAGTTGCCTCCACCCTGCCCCCAGCCCAGTCCCACCAAGTGCTTACGGGCAGAGGCCAGGAGCGCCAGGAGGGCAACAACAAGGAGTACCCGGGGCTGCATGGCACCTCTGTTCCTGCAAGGAAGTGTCCTGTGAGGGGCACCCCAGGTCCCCATGCCTCTGGACCCCTCCCTGGGGAGGTGGCGTGGCCCCTAAGGTAGAACCTTAGCTGGGTCTGCCAGAAGGAGTAGGGGCCGGCTCCCTGCTAATACGGGCTCTCAGAAGGGGGACTGGTGAGGGGCGAGGGATCGAGGCCCAAAGGGAGGTGGGTGGGATGGAGCAGAAAACCCACCAGACTGAACATCAAGGCACCTGCGGTCTGGACTGATCTCCGTCCAGTCCAGCCAACATGCTGTGTGTCTTTGGGTGATTTCTGGCCCTCTCCAGGCCTCAGTTTC | CA2697558960 | ClinVar | ||
| 11 | g.116832726C= | CA2002760250 | APOC3 | c.180-38C= (n.180-38C=) c.234-38C= (n.234-38C=) | |
| 11 | g.116832726C>T | CA2002760251 | APOC3 | c.180-38C>T (n.180-38C>T) c.234-38C>T (n.234-38C>T) | dbSNP |
| 11 | g.116832729A= | CA2002760252 | APOC3 | c.180-35A= (n.180-35A=) c.234-35A= (n.234-35A=) | |
| 11 | g.116832729A>C | CA2002760253 | APOC3 | c.180-35A>C (n.180-35A>C) c.234-35A>C (n.234-35A>C) | dbSNP |
| 11 | g.116832729A>T | CA6289676 | APOC3 | c.180-35A>T (n.180-35A>T) c.234-35A>T (n.234-35A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116832730T>C | CA6289677 | APOC3 | c.180-34T>C (n.180-34T>C) c.234-34T>C (n.234-34T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116832730T= | CA2002760254 | APOC3 | c.180-34T= (n.180-34T=) c.234-34T= (n.234-34T=) | |
| 11 | g.116832731G>C | CA6289678 | APOC3 | c.180-33G>C (n.180-33G>C) c.234-33G>C (n.234-33G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116832731G= | CA2002760255 | APOC3 | c.180-33G= (n.180-33G=) c.234-33G= (n.234-33G=) | |
| 11 | g.116832732C>T | CA2616111294 | APOC3 | c.180-32C>T (n.180-32C>T) c.234-32C>T (n.234-32C>T) | gnomAD v4 |
| 11 | g.116832734C>A | CA6289679 | APOC3 | c.180-30C>A (n.180-30C>A) c.234-30C>A (n.234-30C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116832734C= | CA2002760256 | APOC3 | c.180-30C= (n.180-30C=) c.234-30C= (n.234-30C=) | |
| 11 | g.116832737C= | CA2002760257 | APOC3 | c.180-27C= (n.180-27C=) c.234-27C= (n.234-27C=) | |
| 11 | g.116832737C>T | CA672202013 | APOC3 | c.180-27C>T (n.180-27C>T) c.234-27C>T (n.234-27C>T) | dbSNP |
| 11 | g.116832738T>C | CA654624860 | APOC3 | c.180-26T>C (n.180-26T>C) c.234-26T>C (n.234-26T>C) | COSMIC |
| 11 | g.116832740T>A | CA2574986581 | APOC3 | c.180-24T>A (n.180-24T>A) c.234-24T>A (n.234-24T>A) | |
| 11 | g.116832740T>C | CA2519083956 | APOC3 | c.180-24T>C (n.180-24T>C) c.234-24T>C (n.234-24T>C) | gnomAD v4 |
| 11 | g.116832740T>G | CA6289680 | APOC3 | c.180-24T>G (n.180-24T>G) c.234-24T>G (n.234-24T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116832740T= | CA2002760258 | APOC3 | c.180-24T= (n.180-24T=) c.234-24T= (n.234-24T=) | |
| 11 | g.116832745C= | CA2002760259 | APOC3 | c.180-19C= (n.180-19C=) c.234-19C= (n.234-19C=) | |
| 11 | g.116832745C>G | CA601825988 | APOC3 | c.180-19C>G (n.180-19C>G) c.234-19C>G (n.234-19C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116832748C= | CA2002760260 | APOC3 | c.180-16C= (n.180-16C=) c.234-16C= (n.234-16C=) | |
| 11 | g.116832748C>G | CA2002760261 | APOC3 | c.180-16C>G (n.180-16C>G) c.234-16C>G (n.234-16C>G) | ClinVar dbSNP gnomAD v4 |
| 11 | g.116832748C>T | CA6289681 | APOC3 | c.180-16C>T (n.180-16C>T) c.234-16C>T (n.234-16C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116832749C= | CA2002760262 | APOC3 | c.180-15C= (n.180-15C=) c.234-15C= (n.234-15C=) | |
| 11 | g.116832749C>T | CA601825989 | APOC3 | c.180-15C>T (n.180-15C>T) c.234-15C>T (n.234-15C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116832751C= | CA2002760263 | APOC3 | c.180-13C= (n.180-13C=) c.234-13C= (n.234-13C=) | |
| 11 | g.116832751C>T | CA601825990 | APOC3 | c.180-13C>T (n.180-13C>T) c.234-13C>T (n.234-13C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116832753G>C | CA2616111295 | APOC3 | c.180-11G>C (n.180-11G>C) c.234-11G>C (n.234-11G>C) | gnomAD v4 |
| 11 | g.116832754A= | CA2002760264 | APOC3 | c.180-10A= (n.180-10A=) c.234-10A= (n.234-10A=) | |
| 11 | g.116832754A>G | CA2002760265 | APOC3 | c.180-10A>G (n.180-10A>G) c.234-10A>G (n.234-10A>G) | dbSNP |
| 11 | g.116832755C= | CA2002760266 | APOC3 | c.180-9C= (n.180-9C=) c.234-9C= (n.234-9C=) | |
| 11 | g.116832755C>T | CA229320824 | APOC3 | c.180-9C>T (n.180-9C>T) c.234-9C>T (n.234-9C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116832757G>A | CA6289682 | APOC3 | c.180-7G>A (n.180-7G>A) c.234-7G>A (n.234-7G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116832757G>C | CA672202029 | APOC3 | c.180-7G>C (n.180-7G>C) c.234-7G>C (n.234-7G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116832757G= | CA2002760267 | APOC3 | c.180-7G= (n.180-7G=) c.234-7G= (n.234-7G=) | |
| 11 | g.116832760T>C | CA601825992 | APOC3 | c.180-4T>C (n.180-4T>C) c.234-4T>C (n.234-4T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116832760T= | CA2002760268 | APOC3 | c.180-4T= (n.180-4T=) c.234-4T= (n.234-4T=) | |
| 11 | g.116832762A>C | CA382711057 | APOC3 | c.180-2A>C (n.180-2A>C) c.234-2A>C (n.234-2A>C) | |
| 11 | g.116832762A>G | CA382711058 | APOC3 | c.180-2A>G (n.180-2A>G) c.234-2A>G (n.234-2A>G) | |
| 11 | g.116832762A>T | CA382711060 | APOC3 | c.180-2A>T (n.180-2A>T) c.234-2A>T (n.234-2A>T) | |
| 11 | g.116832763G>A | CA382711061 | APOC3 | c.180-1G>A (n.180-1G>A) c.234-1G>A (n.234-1G>A) | dbSNP |
| 11 | g.116832763G>C | CA382711062 | APOC3 | c.180-1G>C (n.180-1G>C) c.234-1G>C (n.234-1G>C) | |
| 11 | g.116832763G= | CA2002760269 | APOC3 | c.180-1G= (n.180-1G=) c.234-1G= (n.234-1G=) | |
| 11 | g.116832763G>T | CA382711063 | APOC3 | c.180-1G>T (n.180-1G>T) c.234-1G>T (n.234-1G>T) | |
| 11 | g.116832764G>A | CA6289683 | APOC3 | c.180G>A (p.Arg60=) c.234G>A (p.Arg78=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.116832764G>C | CA382711064 | APOC3 | c.180G>C (p.Arg60Ser) c.234G>C (p.Arg78Ser) | |
| 11 | g.116832764G= | CA2002760270 | APOC3 | c.180G= (p.Arg60=) c.234G= (p.Arg78=) | |
| 11 | g.116832764G>T | CA382711066 | APOC3 | c.180G>T (p.Arg60Ser) c.234G>T (p.Arg78Ser) |