UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.116830247_116836307delinsAGACAGAGGGCCTGAGGCAGGAGATGAGCAAGGATCTGGAGGAGGTGAAGGCCAAGGTGCAGCCCTACCTGGACGACTTCCAGAAGAAGTGGCAGGAGGAGATGGAGCTCTACCGCCAGAAGGTGGAGCCGCTGCGCGCAGAGCTCCAAGAGGGCGCGCGCCAGAAGCTGCACGAGCTGCAAGAGAAGCTGAGCCCACTGGGCGAGGAGATGCGCGACCGCGCGCGCGCCCATGTGGACGCGCTGCGCACGCATCTGGCCCCCTACAGCGACGAGCTGCGCCAGCGCTTGGCCGCGCGCCTTGAGGCTCTCAAGGAGAACGGCGGCGCCAGACTGGCCGAGTACCACGCCAAGGCCACCGAGCATCTGAGCACGCTCAGCGAGAAGGCCAAGCCCGCGCTCGAGGACCTCCGCCAAGGCCTGCTGCCCGTGCTGGAGAGCTTCAAGGTCAGCTTCCTGAGCGCTCTCGAGGAGTACACTAAGAAGCTCAACACCCAGTGAGGCGCCCGCCGCCGCCCCCCTTCCCGGTGCTCAGAATAAACGTTTCCAAAGTGGGAAGCAGCTTCTTTCTTTTGGGAGAATAGAGGGGGGTGCGGGGACATCCGGGGGAGCCCGGGTGGGGCCTTTGGCCCTGGAGCAGGGACTTCCTGCCGGATCTCAACAACTCCGTGCCCAGACTGGACGTCTTAGGGCCAAGATCGACGTTGGAGGACCTGCTGGACGCCTGGCTGCTTACGAGTGAGGGAGTAGAGTCTGCCTTAGCAAGGCTCAAGTAGAAAGGAAGTCACAGCGGACCAGGCAAAGCCACAGACAATCCAAGGCCAGGTGCCCTGAAAGGGGCTCAAACAAGGCCTGCAGCCCTGTCTGAGGCGGGCCAGGAAACAGGGTTGCTTTAGCTGGGAGCAGTGGGTTCCCCGTCCCCAGAGGTGTGTCCGTATAGAGCCTTCTCCAGCCCAGCCGCTGTCAGCGGGGCGGGACGGAGCGGGGCGGCCTCAGGGAGCCAGCCACTGGGATTGGGGTTTGGTCCCGGGTGCAAGTGAAGCGCTTGGAGTTTGCGCCTGTCCTCCTTTACTAATTCAAAAACCTCTCAAACAGACACTTCCCTTTTCTTCTCACAAGGCCAGTATCCCCCTCCCACTACTCCCATCCCGCCCAGAAACAGCCGCGGCTTCCTCAGGCACAGCAGTGGAAGCCAGTCCTCCACCCCCTGCGGCTCCATGCCATGCCACCCCCTCTTTCTGCCAGCCCTGGCAGAAGCTGGCCTGAGTAAGAAAATTCACCACCACCTCTTGCAGGTACATTTTTATTTCCAAGATGCTCTCATATCTGTGCTCTCACTGCATCCTCCCTTCCCCACATCCTGGCTAGATTGCCATCAGACGCAGAGCATGGATGAGGACACTGAAGCCTGGACCTGTGACGTCGCTTGCCCAGTGAACAGCAGGATGGGCTAGGCCGCGCTTTTTAGACCCTGCACCCCTGGCCATCCATGATTATTGAAAAGAGTGCGCGGGTCGGGTGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGTATCACTTCAGGCCAGGAGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATCAGCTGGGCATGGTGGCTTGCACCCGTAATCCCAGCTACTAGGAAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTCACAGTGAGCCGAAATCATGCCACTGCACTCCAGCCTGGGCGACGGAGCAAGACTCCAGCTAAAAAAAAAAAAAAAAAAAAAAGAGTGTGTGGCCTGGCACTCAAGTTCACATGGGTGTGCAGGCATGCCTGTGTATTCTCACATGACCTCCCTGCTCACGGTCCCTCCTTGCACTCATGTCTGAATGTCCCCGCGTGCACGCACATGGCTTCACAGATCTGGGCAGTGCCTTCCCTACCCTCTCTCTGCAGGGCCTTTTGCCCCCTCATGCAGGCCCCTGGATAATCGGCCCCATCCCCATGTCCCCATCTCCAGTGTATCTTAGCTACCCTAGGTAAAGGAGTGGGCTTTTTAGTTCCTAACCTTCCAGAGCTACAACAGCAGTCATCCAGCCAGGTCTGGGTGGGAACATTTTCTAGATACGGGTGCTGAGATCTCTCAGCCCAGAGAGAAGCCCTGGGGAATTTTCAGAGAGAAAGCAGTCTCCAGGTGGGGCTGGATGTACTGATGCCACTGAGATCTGTAAAGGAGTCCCTAACACCTGACATAGGAGTGACAAAACTGTTTTCTGCACCAACTGAGCAGAATACACGCAGCTGACCTGGGCTCAAGGTCTGGCCCTGCCACGTGCTGGCTCTGTGATGCTGGCCAAGTGCCTTCGCCTCTCCGGGCCACAGTTTTTTGATCTGAAGAGTGGAGCCCTACTCAAGCCATCTGCAGCTCTCGGGCTCTCTGACCTGACATCTTTCGGGTGGTGGGGACACAAAGGAAGCAGCCTCTATTGGGAGACCTTGTGCTTCTTTTTGGTCCCAGGACACTGCCCCCCACCACTCCAGTCCGGGTCCCAAGGGCCCAGTCAGCTCAACTGTAATCATGACAACATTGATCAAGCATCTTTACGTGCAGGTGCTGTGCCAAACGGTTCGAACGCTCTCTCATTTCAATCTCACGGCAAACCTACGGTGGAGGGGGTACGGTTGTATCCACTTTACATGTAAGAAACTGAGGCTGATATCAAGTGGTGGAGCCAAGAATAGTGCCTCGTTGCATCTTACTCCAACCTCTAGCCCATCCGGCCTCCTCCCTTCACGTGCGCCTAAGAGGGCTAGGGGGCCTGGATAGGGGAGGTCAGCTCCACAGTTTTGAGTAAACACACACAGTCTCAACTCTGATGACAACTTAAGTGCCAGGCATAGTGGCTGGCATGGGGCACACACTCAAGTCATGTTGTGCAGCACCTAACAGTTTATCAAAGTATCAGCAAACTTATTGTCCTGTTTGACCTTCCGCACAAAGCTGTCAAGGAAGGCAGGGTACGGAGGGTGATTCCTACCTTAGAGATGAAGAAACTGAGGCCCAGAGACTGCCCAGCTACCAGAAGGTGGATAGAGCGCTGGCCTCCATGCCTGCCTGACCTGGAGTCTGTCCAGTGCCCACCCACAGAACAGCCTCGGCCCTTTCCCATGCCCAGACACAGATGGCACACTTGCGACGGCCCACTCATAGCAGCTTCTTGTCCAGCTTTATTGGGAGGCCAGCATGCCTGGAGGGGGGCCAGGCATGAGGTGGGGTAGGAGAGCACTGAGAATACTGTCCCTTTTAAGCAACCTACAGGGGCAGCCCTGGAGATTGCAGGACCCAAGGAGCTCGCAGGATGGATAGGCAGGTGGACTTGGGGTATTGAGGTCTCAGGCAGCCACGGCTGAAGTTGGTCTGACCTCAGGGTCCAAATCCCAGAACTCAGAGAACTTGTCCTTAACGGTGCTCCAGTAGTCTTTCAGGGAACTGAAGCCATCGGTCACCCAGCCCCTAAATCAGTCAGGGGAAGCAACAGAGCAGGGCATGAGAACTCCTCTGTAGGCAACCATGGGACCCACACCCATGTCCCCACTGGACGACACCAGTCAGGACCACACCACCCTCTCAACTTCACTGGACGACAGCCCTGAGACCTCAGGCAGGAATCCCCCACAGCTGCCACCCTGGGAGAAGAGATATCCTTGCAGGAACCCCAGCACAAGTCAAACCCTGCCATCTCCAGGTCACCTCAGATGTTTATGCCCCTGGGCCTGAGGCACAAAGTGACAGGGTGGGGAGATGTGAAAGGTCAAGGCTGTCATTGTTTTCTGTGCAAACAGCACCGCCTGGAGTTGCACAACCTGGTGGCTCTGAGCAGGGTAGGACAGAGGGAGGCAGCCTCTCATTTGGAAAGTCATTGGAGGATTGATTAGTTGTGTGATCTGGGGCAGGTCACCTAATCGCTCTGAGCCTCAATTTTCTCATCTGCAAAGTGAGAAAATAACACCTACCCCAAAGCCGGTTCTGGGGACTAAGAATGTTTATGAACACCTCTGCTATGCCAGCTAATGCCAGTCAGGGTGAGGTGGAGAAGGGAGTAGGGGAGAGGAGAGTACTGATGGGCAGGGGCAGGATGGGAGAGGAAGGACACACTTCTGCTCACACTGGCCCCAGGTCTTAGAACAAAGCAGAAGCACTCACGGGCTTGAATTGGGTCAGGTGGGGCCTCCCAAGGCAAACCCCTAGCCCAGGGGTCCCCAACCCCCAAGTCATAGATAGGTACTGGTCCATGGACTGTTAGGAGCCGGGCTGCACAGCACGAAGTGAGTGGTGGGTGAGTGAGCAATACCGCCTGAGCTCCGCCTCCTGTCAGATCAAGTGGCCTTACATTCTCATAGGAGTGTGAACCCTATTGTGAACTGCACATGCCAGGGATCTAGGTGGAGGGCTCCTTATGAGAATCTAATGCCTGATGATCTGAGGTGGAACAGCTTCATCCCAAAACCATCCCCGCTGGCCCATGGAAAAATTGTCCACCACAAAACTGGTCCCTGGTGCCAAAAAGGCTGAGGACCACTGCTCTAGCCAGACCTTCAGAAAAGGAAAATGGGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCCCCTGAGGTCAGGAATTCAAGACCAACCTGGCCAACATGGTGAAACCCCATCTCTGCTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGGTTGAACCCGGGAGACGGAGGTTGCAGTGAGCCGAGATGGCACCACTGCACTCCAGCCTAGGTGACAGAGGGAGACTCCATTAAAAAAAAAAGAAGAAGAAAGAAAGAGAGAAAGGAAGAGAGGGAAAGAAAGAAAAAGGAAAGAAAGAAAGAAAGAGAAAGAAAGGAAAGAAAGAAAGAAAGGAAAGAAAGAAAGGAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAATAGAAAGAGAAAGAAAGGGAAAGGAAAGGAAAATGGAAATGAGGGCTAAAACGGCACGCCCTAGGACTGCTCCGGGGAGAAAGGAGGGACCTGGGAGGAATGCAGTCTCAACTCTGTCATCTCTCCCGCAGCAGCCTGACAAAGGCCCTGTGAGGAAAGAGGAGGCTGAAGAGGCACAGGCCCAGGGGAGGCTGGAGCACCTCCATTCCATTGTTGGGATCTCACCAGGGCAGGGGCGGGTGGGAATGGAGGCAGCTGGCAGGGGGGATGGGGAGGGAGGCCAGCGGGTGTACCTGGCCTGCTGGGCCACCTGGGACTCCTGCACGCTGCTCAGTGCATCCTTGGCGGTCTTGGTGGCGTGCTTCATGTAACCCTGCATGAAGCTGAGAAGGGAGGCATCCTCGGCCTCTGAAGCTCCTGAGGAAAGAGCAGGGCTGAGTGGGGTGGATCGGCCTCTGGACGAGCCCTGGGCTCCTGCTTGACCACCCATTGGGACTGGGATCCCCAAGTTGCCTCCACCCTGCCCCCAGCCCAGTCCCACCAAGTGCTTACGGGCAGAGGCCAGGAGCGCCAGGAGGGCAACAACAAGGAGTACCCGGGGCTGCATGGCACCTCTGTTCCTGCAAGGAAGTGTCCTGTGAGGGGCACCCCAGGTCCCCATGCCTCTGGACCCCTCCCTGGGGAGGTGGCGTGGCCCCTAAGGTAGAACCTTAGCTGGGTCTGCCAGAAGGAGTAGGGGCCGGCTCCCTGCTAATACGGGCTCTCAGAAGGGGGACTGGTGAGGGGCGAGGGATCGAGGCCCAAAGGGAGGTGGGTGGGATGGAGCAGAAAACCCACCAGACTGAACATCAAGGCACCTGCGGTCTGGACTGATCTCCGTCCAGTCCAGCCAACATGCTGTGTGTCTTTGGGTGATTTCTGGCCCTCTCCAGGCCTCAGTTTC | CA2697558960 | ClinVar | ||
| 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.116832746T>G | CA2793765123 | APOC3 | c.180-18T>G (n.180-18T>G) c.234-18T>G (n.234-18T>G) | |
| 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.116832757G>T | CA2793765124 | APOC3 | c.180-7G>T (n.180-7G>T) c.234-7G>T (n.234-7G>T) | |
| 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) | |
| 11 | g.116832765G>A | CA382711069 | APOC3 | c.181G>A (p.Gly61Ser) c.235G>A (p.Gly79Ser) | gnomAD v4 |
| 11 | g.116832765G>C | CA382711071 | APOC3 | c.181G>C (p.Gly61Arg) c.235G>C (p.Gly79Arg) | |
| 11 | g.116832765G>T | CA382711074 | APOC3 | c.181G>T (p.Gly61Cys) c.235G>T (p.Gly79Cys) | |
| 11 | g.116832766G>A | CA382711080 | APOC3 | c.182G>A (p.Gly61Asp) c.236G>A (p.Gly79Asp) | |
| 11 | g.116832766G>C | CA382711077 | APOC3 | c.182G>C (p.Gly61Ala) c.236G>C (p.Gly79Ala) | |
| 11 | g.116832766G>T | CA382711079 | APOC3 | c.182G>T (p.Gly61Val) c.236G>T (p.Gly79Val) | |
| 11 | g.116832767C>A | CA476868917 | APOC3 | c.183C>A (p.Gly61=) c.237C>A (p.Gly79=) | |
| 11 | g.116832767C>G | CA476868918 | APOC3 | c.183C>G (p.Gly61=) c.237C>G (p.Gly79=) | |
| 11 | g.116832767C>T | CA476868919 | APOC3 | c.183C>T (p.Gly61=) c.237C>T (p.Gly79=) | |
| 11 | g.116832768T>A | CA382711083 | APOC3 | c.184T>A (p.Trp62Arg) c.238T>A (p.Trp80Arg) | |
| 11 | g.116832768T>C | CA382711086 | APOC3 | c.184T>C (p.Trp62Arg) c.238T>C (p.Trp80Arg) | |
| 11 | g.116832768T>G | CA382711088 | APOC3 | c.184T>G (p.Trp62Gly) c.238T>G (p.Trp80Gly) | |
| 11 | g.116832768_116832769delinsTG | CA2002760271 | APOC3 | c.184_185delinsTG (p.Trp62=) c.238_239delinsTG (p.Trp80=) | |
| 11 | g.116832769G>A | CA382711090 | APOC3 | c.185G>A (p.Trp62Ter) c.239G>A (p.Trp80Ter) | |
| 11 | g.116832769G>C | CA382711092 | APOC3 | c.185G>C (p.Trp62Ser) c.239G>C (p.Trp80Ser) | |
| 11 | g.116832769G>T | CA382711093 | APOC3 | c.185G>T (p.Trp62Leu) c.239G>T (p.Trp80Leu) | COSMIC |
| 11 | g.116832771del | CA601825996 | APOC3 | c.187del (p.Val63Ter) c.241del (p.Val81Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116832770G>A | CA6289684 | APOC3 | c.186G>A (p.Trp62Ter) c.240G>A (p.Trp80Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116832770G>C | CA382711096 | APOC3 | c.186G>C (p.Trp62Cys) c.240G>C (p.Trp80Cys) | |
| 11 | g.116832770G= | CA2002760272 | APOC3 | c.186G= (p.Trp62=) c.240G= (p.Trp80=) | |
| 11 | g.116832770G>T | CA382711094 | APOC3 | c.186G>T (p.Trp62Cys) c.240G>T (p.Trp80Cys) | gnomAD v4 |
| 11 | g.116832771G>A | CA382711098 | APOC3 | c.187G>A (p.Val63Met) c.241G>A (p.Val81Met) | dbSNP |
| 11 | g.116832771G>C | CA382711101 | APOC3 | c.187G>C (p.Val63Leu) c.241G>C (p.Val81Leu) | |
| 11 | g.116832771G>T | CA382711102 | APOC3 | c.187G>T (p.Val63Leu) c.241G>T (p.Val81Leu) | gnomAD v4 |
| 11 | g.116832772T>A | CA382711105 | APOC3 | c.188T>A (p.Val63Glu) c.242T>A (p.Val81Glu) | |
| 11 | g.116832772T>C | CA382711106 | APOC3 | c.188T>C (p.Val63Ala) c.242T>C (p.Val81Ala) | |
| 11 | g.116832772T>G | CA382711108 | APOC3 | c.188T>G (p.Val63Gly) c.242T>G (p.Val81Gly) | |
| 11 | g.116832773G>A | CA476868920 | APOC3 | c.189G>A (p.Val63=) c.243G>A (p.Val81=) | |
| 11 | g.116832773G>C | CA476868921 | APOC3 | c.189G>C (p.Val63=) c.243G>C (p.Val81=) | |
| 11 | g.116832773G>T | CA476868922 | APOC3 | c.189G>T (p.Val63=) c.243G>T (p.Val81=) | gnomAD v4 |
| 11 | g.116832774A>C | CA382711110 | APOC3 | c.190A>C (p.Thr64Pro) c.244A>C (p.Thr82Pro) | |
| 11 | g.116832774A>G | CA382711115 | APOC3 | c.190A>G (p.Thr64Ala) c.244A>G (p.Thr82Ala) | |
| 11 | g.116832774A>T | CA382711112 | APOC3 | c.190A>T (p.Thr64Ser) c.244A>T (p.Thr82Ser) | |
| 11 | g.116832775C>A | CA382711117 | APOC3 | c.191C>A (p.Thr64Asn) c.245C>A (p.Thr82Asn) | |
| 11 | g.116832775C>G | CA382711119 | APOC3 | c.191C>G (p.Thr64Ser) c.245C>G (p.Thr82Ser) | |
| 11 | g.116832775C>T | CA382711120 | APOC3 | c.191C>T (p.Thr64Ile) c.245C>T (p.Thr82Ile) | |
| 11 | g.116832776C>A | CA476868923 | APOC3 | c.192C>A (p.Thr64=) c.246C>A (p.Thr82=) | |
| 11 | g.116832776C= | CA2002760273 | APOC3 | c.192C= (p.Thr64=) c.246C= (p.Thr82=) | |
| 11 | g.116832776C>G | CA476868924 | APOC3 | c.192C>G (p.Thr64=) c.246C>G (p.Thr82=) | |
| 11 | g.116832776C>T | CA476868925 | APOC3 | c.192C>T (p.Thr64=) c.246C>T (p.Thr82=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116832777G>A | CA6289685 | APOC3 | c.193G>A (p.Asp65Asn) c.247G>A (p.Asp83Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116832777G>C | CA382711121 | APOC3 | c.193G>C (p.Asp65His) c.247G>C (p.Asp83His) | |
| 11 | g.116832777G= | CA2002760274 | APOC3 | c.193G= (p.Asp65=) c.247G= (p.Asp83=) | |
| 11 | g.116832777G>T | CA382711122 | APOC3 | c.193G>T (p.Asp65Tyr) c.247G>T (p.Asp83Tyr) | |
| 11 | g.116832778A>C | CA382711123 | APOC3 | c.194A>C (p.Asp65Ala) c.248A>C (p.Asp83Ala) | |
| 11 | g.116832778A>G | CA382711124 | APOC3 | c.194A>G (p.Asp65Gly) c.248A>G (p.Asp83Gly) | |
| 11 | g.116832778A>T | CA382711126 | APOC3 | c.194A>T (p.Asp65Val) c.248A>T (p.Asp83Val) | |
| 11 | g.116832779T>A | CA382711129 | APOC3 | c.195T>A (p.Asp65Glu) c.249T>A (p.Asp83Glu) | |
| 11 | g.116832779T>C | CA229320860 | APOC3 | c.195T>C (p.Asp65=) c.249T>C (p.Asp83=) | dbSNP |
| 11 | g.116832779T>G | CA382711131 | APOC3 | c.195T>G (p.Asp65Glu) c.249T>G (p.Asp83Glu) | |
| 11 | g.116832779T= | CA2002760275 | APOC3 | c.195T= (p.Asp65=) c.249T= (p.Asp83=) | |
| 11 | g.116832780G>A | CA382711133 | APOC3 | c.196G>A (p.Gly66Ser) c.250G>A (p.Gly84Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116832780G>C | CA382711135 | APOC3 | c.196G>C (p.Gly66Arg) c.250G>C (p.Gly84Arg) | |
| 11 | g.116832780G= | CA2002760276 | APOC3 | c.196G= (p.Gly66=) c.250G= (p.Gly84=) | |
| 11 | g.116832780G>T | CA382711134 | APOC3 | c.196G>T (p.Gly66Cys) c.250G>T (p.Gly84Cys) | |
| 11 | g.116832781G>A | CA382711137 | APOC3 | c.197G>A (p.Gly66Asp) c.251G>A (p.Gly84Asp) | |
| 11 | g.116832781G>C | CA382711140 | APOC3 | c.197G>C (p.Gly66Ala) c.251G>C (p.Gly84Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116832781G= | CA2002760277 | APOC3 | c.197G= (p.Gly66=) c.251G= (p.Gly84=) | |
| 11 | g.116832781G>T | CA382711143 | APOC3 | c.197G>T (p.Gly66Val) c.251G>T (p.Gly84Val) | |
| 11 | g.116832782C>A | CA476868926 | APOC3 | c.198C>A (p.Gly66=) c.252C>A (p.Gly84=) | |
| 11 | g.116832782C>G | CA476868927 | APOC3 | c.198C>G (p.Gly66=) c.252C>G (p.Gly84=) | |
| 11 | g.116832782C>T | CA476868928 | APOC3 | c.198C>T (p.Gly66=) c.252C>T (p.Gly84=) | |
| 11 | g.116832783T>A | CA382711146 | APOC3 | c.199T>A (p.Phe67Ile) c.253T>A (p.Phe85Ile) | |
| 11 | g.116832783T>C | CA382711155 | APOC3 | c.199T>C (p.Phe67Leu) c.253T>C (p.Phe85Leu) | |
| 11 | g.116832783T>G | CA382711156 | APOC3 | c.199T>G (p.Phe67Val) c.253T>G (p.Phe85Val) | |
| 11 | g.116832784T>A | CA382711163 | APOC3 | c.200T>A (p.Phe67Tyr) c.254T>A (p.Phe85Tyr) | |
| 11 | g.116832784T>C | CA382711158 | APOC3 | c.200T>C (p.Phe67Ser) c.254T>C (p.Phe85Ser) | |
| 11 | g.116832784T>G | CA382711160 | APOC3 | c.200T>G (p.Phe67Cys) c.254T>G (p.Phe85Cys) | |
| 11 | g.116832785C>A | CA382711164 | APOC3 | c.201C>A (p.Phe67Leu) c.255C>A (p.Phe85Leu) | |
| 11 | g.116832785C>G | CA382711165 | APOC3 | c.201C>G (p.Phe67Leu) c.255C>G (p.Phe85Leu) | |
| 11 | g.116832785C>T | CA476868929 | APOC3 | c.201C>T (p.Phe67=) c.255C>T (p.Phe85=) | |
| 11 | g.116832786A>C | CA382711167 | APOC3 | c.202A>C (p.Ser68Arg) c.256A>C (p.Ser86Arg) | gnomAD v4 |
| 11 | g.116832786A>G | CA382711174 | APOC3 | c.202A>G (p.Ser68Gly) c.256A>G (p.Ser86Gly) | |
| 11 | g.116832786A>T | CA382711175 | APOC3 | c.202A>T (p.Ser68Cys) c.256A>T (p.Ser86Cys) | |
| 11 | g.116832787G>A | CA382711176 | APOC3 | c.203G>A (p.Ser68Asn) c.257G>A (p.Ser86Asn) | gnomAD v4 |
| 11 | g.116832787G>C | CA382711178 | APOC3 | c.203G>C (p.Ser68Thr) c.257G>C (p.Ser86Thr) | |
| 11 | g.116832787G>T | CA382711177 | APOC3 | c.203G>T (p.Ser68Ile) c.257G>T (p.Ser86Ile) | |
| 11 | g.116832788T>A | CA382711181 | APOC3 | c.204T>A (p.Ser68Arg) c.258T>A (p.Ser86Arg) | |
| 11 | g.116832788T>C | CA476868930 | APOC3 | c.204T>C (p.Ser68=) c.258T>C (p.Ser86=) | |
| 11 | g.116832788T>G | CA382711183 | APOC3 | c.204T>G (p.Ser68Arg) c.258T>G (p.Ser86Arg) | |
| 11 | g.116832789T>A | CA382711185 | APOC3 | c.205T>A (p.Ser69Thr) c.259T>A (p.Ser87Thr) | |
| 11 | g.116832789T>C | CA382711190 | APOC3 | c.205T>C (p.Ser69Pro) c.259T>C (p.Ser87Pro) | |
| 11 | g.116832789T>G | CA382711192 | APOC3 | c.205T>G (p.Ser69Ala) c.259T>G (p.Ser87Ala) | |
| 11 | g.116832790C>A | CA382711194 | APOC3 | c.206C>A (p.Ser69Tyr) c.260C>A (p.Ser87Tyr) | |
| 11 | g.116832790C= | CA2002760278 | APOC3 | c.206C= (p.Ser69=) c.260C= (p.Ser87=) | |
| 11 | g.116832790C>G | CA382711196 | APOC3 | c.206C>G (p.Ser69Cys) c.260C>G (p.Ser87Cys) | gnomAD v4 |
| 11 | g.116832790C>T | CA6289686 | APOC3 | c.206C>T (p.Ser69Phe) c.260C>T (p.Ser87Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116832791C>A | CA476868933 | APOC3 | c.207C>A (p.Ser69=) c.261C>A (p.Ser87=) | |
| 11 | g.116832791C>G | CA476868931 | APOC3 | c.207C>G (p.Ser69=) c.261C>G (p.Ser87=) | |
| 11 | g.116832791C>T | CA476868932 | APOC3 | c.207C>T (p.Ser69=) c.261C>T (p.Ser87=) | |
| 11 | g.116832792C>A | CA382711198 | APOC3 | c.208C>A (p.Leu70Met) c.262C>A (p.Leu88Met) | |
| 11 | g.116832792C>G | CA382711199 | APOC3 | c.208C>G (p.Leu70Val) c.262C>G (p.Leu88Val) | |
| 11 | g.116832792C>T | CA476868934 | APOC3 | c.208C>T (p.Leu70=) c.262C>T (p.Leu88=) | |
| 11 | g.116832793T>A | CA382711200 | APOC3 | c.209T>A (p.Leu70Gln) c.263T>A (p.Leu88Gln) | |
| 11 | g.116832793T>C | CA382711203 | APOC3 | c.209T>C (p.Leu70Pro) c.263T>C (p.Leu88Pro) | dbSNP gnomAD v4 |
| 11 | g.116832793T>G | CA382711202 | APOC3 | c.209T>G (p.Leu70Arg) c.263T>G (p.Leu88Arg) | |
| 11 | g.116832793T= | CA2002760279 | APOC3 | c.209T= (p.Leu70=) c.263T= (p.Leu88=) | |
| 11 | g.116832794G>A | CA476868935 | APOC3 | c.210G>A (p.Leu70=) c.264G>A (p.Leu88=) | COSMIC |
| 11 | g.116832794G>C | CA476868936 | APOC3 | c.210G>C (p.Leu70=) c.264G>C (p.Leu88=) | |
| 11 | g.116832794G>T | CA476868937 | APOC3 | c.210G>T (p.Leu70=) c.264G>T (p.Leu88=) | |
| 11 | g.116832795A= | CA2002760280 | APOC3 | c.211A= (p.Lys71=) c.265A= (p.Lys89=) | |
| 11 | g.116832795A>C | CA382711204 | APOC3 | c.211A>C (p.Lys71Gln) c.265A>C (p.Lys89Gln) | |
| 11 | g.116832795A>G | CA382711206 | APOC3 | c.211A>G (p.Lys71Glu) c.265A>G (p.Lys89Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116832795A>T | CA382711205 | APOC3 | c.211A>T (p.Lys71Ter) c.265A>T (p.Lys89Ter) | |
| 11 | g.116832796A= | CA2002760281 | APOC3 | c.212A= (p.Lys71=) c.266A= (p.Lys89=) | |
| 11 | g.116832796A>C | CA382711207 | APOC3 | c.212A>C (p.Lys71Thr) c.266A>C (p.Lys89Thr) | |
| 11 | g.116832796A>G | CA382711213 | APOC3 | c.212A>G (p.Lys71Arg) c.266A>G (p.Lys89Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116832796A>T | CA382711208 | APOC3 | c.212A>T (p.Lys71Ile) c.266A>T (p.Lys89Ile) | |
| 11 | g.116832797A>C | CA382711215 | APOC3 | c.213A>C (p.Lys71Asn) c.267A>C (p.Lys89Asn) | COSMIC |
| 11 | g.116832797A>G | CA476868938 | APOC3 | c.213A>G (p.Lys71=) c.267A>G (p.Lys89=) | |
| 11 | g.116832797A>T | CA382711216 | APOC3 | c.213A>T (p.Lys71Asn) c.267A>T (p.Lys89Asn) | |
| 11 | g.116832798G>A | CA382711217 | APOC3 | c.214G>A (p.Asp72Asn) c.268G>A (p.Asp90Asn) | |
| 11 | g.116832798G>C | CA382711218 | APOC3 | c.214G>C (p.Asp72His) c.268G>C (p.Asp90His) | |
| 11 | g.116832798G>T | CA382711219 | APOC3 | c.214G>T (p.Asp72Tyr) c.268G>T (p.Asp90Tyr) | |
| 11 | g.116832799A>C | CA382711222 | APOC3 | c.215A>C (p.Asp72Ala) c.269A>C (p.Asp90Ala) | gnomAD v4 |
| 11 | g.116832799A>G | CA382711224 | APOC3 | c.215A>G (p.Asp72Gly) c.269A>G (p.Asp90Gly) | gnomAD v4 |
| 11 | g.116832799A>T | CA382711225 | APOC3 | c.215A>T (p.Asp72Val) c.269A>T (p.Asp90Val) | |
| 11 | g.116832799_116832800delinsAC | CA2002760282 | APOC3 | c.215_216delinsAC (p.Asp72=) c.269_270delinsAC (p.Asp90=) | |
| 11 | g.116832800del | CA6289687 | APOC3 | c.216del (p.Tyr73ThrfsTer?) c.270del (p.Tyr91ThrfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116832800C>A | CA382711227 | APOC3 | c.216C>A (p.Asp72Glu) c.270C>A (p.Asp90Glu) | |
| 11 | g.116832800C>G | CA382711228 | APOC3 | c.216C>G (p.Asp72Glu) c.270C>G (p.Asp90Glu) | gnomAD v4 |
| 11 | g.116832800C>T | CA476868939 | APOC3 | c.216C>T (p.Asp72=) c.270C>T (p.Asp90=) | gnomAD v4 |
| 11 | g.116832801T>A | CA382711233 | APOC3 | c.217T>A (p.Tyr73Asn) c.271T>A (p.Tyr91Asn) | |
| 11 | g.116832801T>C | CA382711231 | APOC3 | c.217T>C (p.Tyr73His) c.271T>C (p.Tyr91His) | |
| 11 | g.116832801T>G | CA6289688 | APOC3 | c.217T>G (p.Tyr73Asp) c.271T>G (p.Tyr91Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116832801T= | CA2002760283 | APOC3 | c.217T= (p.Tyr73=) c.271T= (p.Tyr91=) | |
| 11 | g.116832802A>C | CA382711236 | APOC3 | c.218A>C (p.Tyr73Ser) c.272A>C (p.Tyr91Ser) | |
| 11 | g.116832802A>G | CA382711237 | APOC3 | c.218A>G (p.Tyr73Cys) c.272A>G (p.Tyr91Cys) | |
| 11 | g.116832802A>T | CA382711238 | APOC3 | c.218A>T (p.Tyr73Phe) c.272A>T (p.Tyr91Phe) | |
| 11 | g.116832803C>A | CA382711241 | APOC3 | c.219C>A (p.Tyr73Ter) c.273C>A (p.Tyr91Ter) | |
| 11 | g.116832803C>G | CA382711242 | APOC3 | c.219C>G (p.Tyr73Ter) c.273C>G (p.Tyr91Ter) | |
| 11 | g.116832803C>T | CA476868940 | APOC3 | c.219C>T (p.Tyr73=) c.273C>T (p.Tyr91=) | |
| 11 | g.116832804T>A | CA382711244 | APOC3 | c.220T>A (p.Trp74Arg) c.274T>A (p.Trp92Arg) | |
| 11 | g.116832804T>C | CA382711247 | APOC3 | c.220T>C (p.Trp74Arg) c.274T>C (p.Trp92Arg) | |
| 11 | g.116832804T>G | CA382711248 | APOC3 | c.220T>G (p.Trp74Gly) c.274T>G (p.Trp92Gly) | |
| 11 | g.116832805G>A | CA382711249 | APOC3 | c.221G>A (p.Trp74Ter) c.275G>A (p.Trp92Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116832805G>C | CA382711250 | APOC3 | c.221G>C (p.Trp74Ser) c.275G>C (p.Trp92Ser) | |
| 11 | g.116832805G= | CA2002760284 | APOC3 | c.221G= (p.Trp74=) c.275G= (p.Trp92=) | |
| 11 | g.116832805G>T | CA382711252 | APOC3 | c.221G>T (p.Trp74Leu) c.275G>T (p.Trp92Leu) | |
| 11 | g.116832806G>A | CA382711269 | APOC3 | c.222G>A (p.Trp74Ter) c.276G>A (p.Trp92Ter) | |
| 11 | g.116832806G>C | CA382711258 | APOC3 | c.222G>C (p.Trp74Cys) c.276G>C (p.Trp92Cys) | |
| 11 | g.116832806G= | CA2002760285 | APOC3 | c.222G= (p.Trp74=) c.276G= (p.Trp92=) | |
| 11 | g.116832806G>T | CA382711254 | APOC3 | c.222G>T (p.Trp74Cys) c.276G>T (p.Trp92Cys) | dbSNP |
| 11 | g.116832807A>C | CA382711273 | APOC3 | c.223A>C (p.Ser75Arg) c.277A>C (p.Ser93Arg) | |
| 11 | g.116832807A>G | CA382711277 | APOC3 | c.223A>G (p.Ser75Gly) c.277A>G (p.Ser93Gly) | |
| 11 | g.116832807A>T | CA382711279 | APOC3 | c.223A>T (p.Ser75Cys) c.277A>T (p.Ser93Cys) | |
| 11 | g.116832808G>A | CA382711281 | APOC3 | c.224G>A (p.Ser75Asn) c.278G>A (p.Ser93Asn) | gnomAD v4 |
| 11 | g.116832808G>C | CA382711282 | APOC3 | c.224G>C (p.Ser75Thr) c.278G>C (p.Ser93Thr) | |
| 11 | g.116832808G>T | CA382711285 | APOC3 | c.224G>T (p.Ser75Ile) c.278G>T (p.Ser93Ile) | gnomAD v4 |
| 11 | g.116832809C>A | CA6289689 | APOC3 | c.225C>A (p.Ser75Arg) c.279C>A (p.Ser93Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116832809C= | CA2002760286 | APOC3 | c.225C= (p.Ser75=) c.279C= (p.Ser93=) | |
| 11 | g.116832809C>G | CA382711290 | APOC3 | c.225C>G (p.Ser75Arg) c.279C>G (p.Ser93Arg) | |
| 11 | g.116832809C>T | CA476868941 | APOC3 | c.225C>T (p.Ser75=) c.279C>T (p.Ser93=) | |
| 11 | g.116832810A>C | CA382711292 | APOC3 | c.226A>C (p.Thr76Pro) c.280A>C (p.Thr94Pro) | |
| 11 | g.116832810A>G | CA382711293 | APOC3 | c.226A>G (p.Thr76Ala) c.280A>G (p.Thr94Ala) | |
| 11 | g.116832810A>T | CA382711294 | APOC3 | c.226A>T (p.Thr76Ser) c.280A>T (p.Thr94Ser) | |
| 11 | g.116832811C>A | CA382711300 | APOC3 | c.227C>A (p.Thr76Asn) c.281C>A (p.Thr94Asn) | |
| 11 | g.116832811C>G | CA382711297 | APOC3 | c.227C>G (p.Thr76Ser) c.281C>G (p.Thr94Ser) | gnomAD v4 |
| 11 | g.116832811C>T | CA382711295 | APOC3 | c.227C>T (p.Thr76Ile) c.281C>T (p.Thr94Ile) | |
| 11 | g.116832812C>A | CA476868942 | APOC3 | c.228C>A (p.Thr76=) c.282C>A (p.Thr94=) | dbSNP |
| 11 | g.116832812C= | CA2002760287 | APOC3 | c.228C= (p.Thr76=) c.282C= (p.Thr94=) | |
| 11 | g.116832812C>G | CA476868943 | APOC3 | c.228C>G (p.Thr76=) c.282C>G (p.Thr94=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116832812C>T | CA476868944 | APOC3 | c.228C>T (p.Thr76=) c.282C>T (p.Thr94=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116832813G>A | CA6289690 | APOC3 | c.229G>A (p.Val77Ile) c.283G>A (p.Val95Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.116832813G>C | CA6289691 | APOC3 | c.229G>C (p.Val77Leu) c.283G>C (p.Val95Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116832813G= | CA2002760288 | APOC3 | c.229G= (p.Val77=) c.283G= (p.Val95=) | |
| 11 | g.116832813G>T | CA382711305 | APOC3 | c.229G>T (p.Val77Phe) c.283G>T (p.Val95Phe) | |
| 11 | g.116832814T>A | CA382711308 | APOC3 | c.230T>A (p.Val77Asp) c.284T>A (p.Val95Asp) | |
| 11 | g.116832814T>C | CA382711311 | APOC3 | c.230T>C (p.Val77Ala) c.284T>C (p.Val95Ala) | |
| 11 | g.116832814T>G | CA382711314 | APOC3 | c.230T>G (p.Val77Gly) c.284T>G (p.Val95Gly) | |
| 11 | g.116832815T>A | CA476868945 | APOC3 | c.231T>A (p.Val77=) c.285T>A (p.Val95=) | |
| 11 | g.116832815T>C | CA476868946 | APOC3 | c.231T>C (p.Val77=) c.285T>C (p.Val95=) | |
| 11 | g.116832815T>G | CA476868947 | APOC3 | c.231T>G (p.Val77=) c.285T>G (p.Val95=) | |
| 11 | g.116832816A= | CA2002760289 | APOC3 | c.232A= (p.Lys78=) c.286A= (p.Lys96=) | |
| 11 | g.116832816A>C | CA382711319 | APOC3 | c.232A>C (p.Lys78Gln) c.286A>C (p.Lys96Gln) | |
| 11 | g.116832816A>G | CA127530 | APOC3 | c.232A>G (p.Lys78Glu) c.286A>G (p.Lys96Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116832816A>T | CA382711325 | APOC3 | c.232A>T (p.Lys78Ter) c.286A>T (p.Lys96Ter) | |
| 11 | g.116832817A>C | CA382711330 | APOC3 | c.233A>C (p.Lys78Thr) c.287A>C (p.Lys96Thr) | |
| 11 | g.116832817A>G | CA382711333 | APOC3 | c.233A>G (p.Lys78Arg) c.287A>G (p.Lys96Arg) | |
| 11 | g.116832817A>T | CA382711336 | APOC3 | c.233A>T (p.Lys78Met) c.287A>T (p.Lys96Met) | |
| 11 | g.116832818G>A | CA6289692 | APOC3 | c.234G>A (p.Lys78=) c.288G>A (p.Lys96=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116832818G>C | CA382711343 | APOC3 | c.234G>C (p.Lys78Asn) c.288G>C (p.Lys96Asn) | |
| 11 | g.116832818G= | CA2002760290 | APOC3 | c.234G= (p.Lys78=) c.288G= (p.Lys96=) | |
| 11 | g.116832818G>T | CA382711340 | APOC3 | c.234G>T (p.Lys78Asn) c.288G>T (p.Lys96Asn) | |
| 11 | g.116832819G>A | CA382711347 | APOC3 | c.235G>A (p.Asp79Asn) c.289G>A (p.Asp97Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116832819G>C | CA382711352 | APOC3 | c.235G>C (p.Asp79His) c.289G>C (p.Asp97His) | gnomAD v4 |
| 11 | g.116832819G= | CA2002760291 | APOC3 | c.235G= (p.Asp79=) c.289G= (p.Asp97=) | |
| 11 | g.116832819G>T | CA382711349 | APOC3 | c.235G>T (p.Asp79Tyr) c.289G>T (p.Asp97Tyr) | |
| 11 | g.116832820A= | CA2002760292 | APOC3 | c.236A= (p.Asp79=) c.290A= (p.Asp97=) | |
| 11 | g.116832820A>C | CA382711355 | APOC3 | c.236A>C (p.Asp79Ala) c.290A>C (p.Asp97Ala) | |
| 11 | g.116832820A>G | CA382711358 | APOC3 | c.236A>G (p.Asp79Gly) c.290A>G (p.Asp97Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116832820A>T | CA382711361 | APOC3 | c.236A>T (p.Asp79Val) c.290A>T (p.Asp97Val) | |
| 11 | g.116832821C>A | CA382711364 | APOC3 | c.237C>A (p.Asp79Glu) c.291C>A (p.Asp97Glu) | |
| 11 | g.116832821C= | CA2002760293 | APOC3 | c.237C= (p.Asp79=) c.291C= (p.Asp97=) | |
| 11 | g.116832821C>G | CA382711367 | APOC3 | c.237C>G (p.Asp79Glu) c.291C>G (p.Asp97Glu) | |
| 11 | g.116832821C>T | CA6289693 | APOC3 | c.237C>T (p.Asp79=) c.291C>T (p.Asp97=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116832822A>C | CA382711372 | APOC3 | c.238A>C (p.Lys80Gln) c.292A>C (p.Lys98Gln) | |
| 11 | g.116832822A>G | CA382711375 | APOC3 | c.238A>G (p.Lys80Glu) c.292A>G (p.Lys98Glu) | |
| 11 | g.116832822A>T | CA382711377 | APOC3 | c.238A>T (p.Lys80Ter) c.292A>T (p.Lys98Ter) | |
| 11 | g.116832823A>C | CA382711381 | APOC3 | c.239A>C (p.Lys80Thr) c.293A>C (p.Lys98Thr) | |
| 11 | g.116832823A>G | CA382711383 | APOC3 | c.239A>G (p.Lys80Arg) c.293A>G (p.Lys98Arg) | |
| 11 | g.116832823A>T | CA382711386 | APOC3 | c.239A>T (p.Lys80Met) c.293A>T (p.Lys98Met) | |
| 11 | g.116832824G>A | CA476868948 | APOC3 | c.240G>A (p.Lys80=) c.294G>A (p.Lys98=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116832824G>C | CA382711392 | APOC3 | c.240G>C (p.Lys80Asn) c.294G>C (p.Lys98Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116832824G= | CA2002760294 | APOC3 | c.240G= (p.Lys80=) c.294G= (p.Lys98=) | |
| 11 | g.116832824G>T | CA382711391 | APOC3 | c.240G>T (p.Lys80Asn) c.294G>T (p.Lys98Asn) | |
| 11 | g.116832825T>A | CA382711397 | APOC3 | c.241T>A (p.Phe81Ile) c.295T>A (p.Phe99Ile) | |
| 11 | g.116832825T>C | CA382711400 | APOC3 | c.241T>C (p.Phe81Leu) c.295T>C (p.Phe99Leu) | |
| 11 | g.116832825T>G | CA382711402 | APOC3 | c.241T>G (p.Phe81Val) c.295T>G (p.Phe99Val) | |
| 11 | g.116832826T>A | CA382711406 | APOC3 | c.242T>A (p.Phe81Tyr) c.296T>A (p.Phe99Tyr) | |
| 11 | g.116832826T>C | CA382711408 | APOC3 | c.242T>C (p.Phe81Ser) c.296T>C (p.Phe99Ser) | |
| 11 | g.116832826T>G | CA382711411 | APOC3 | c.242T>G (p.Phe81Cys) c.296T>G (p.Phe99Cys) | |
| 11 | g.116832827C>A | CA382711414 | APOC3 | c.243C>A (p.Phe81Leu) c.297C>A (p.Phe99Leu) | |
| 11 | g.116832827C= | CA2002760295 | APOC3 | c.243C= (p.Phe81=) c.297C= (p.Phe99=) | |
| 11 | g.116832827C>G | CA382711418 | APOC3 | c.243C>G (p.Phe81Leu) c.297C>G (p.Phe99Leu) | |
| 11 | g.116832827C>T | CA476868949 | APOC3 | c.243C>T (p.Phe81=) c.297C>T (p.Phe99=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116832828T>A | CA382711421 | APOC3 | c.244T>A (p.Ser82Thr) c.298T>A (p.Ser100Thr) | |
| 11 | g.116832828T>C | CA382711423 | APOC3 | c.244T>C (p.Ser82Pro) c.298T>C (p.Ser100Pro) | |
| 11 | g.116832828T>G | CA382711426 | APOC3 | c.244T>G (p.Ser82Ala) c.298T>G (p.Ser100Ala) | |
| 11 | g.116832829C>A | CA382711433 | APOC3 | c.245C>A (p.Ser82Tyr) c.299C>A (p.Ser100Tyr) | |
| 11 | g.116832829C= | CA2002760296 | APOC3 | c.245C= (p.Ser82=) c.299C= (p.Ser100=) | |
| 11 | g.116832829C>G | CA229320907 | APOC3 | c.245C>G (p.Ser82Cys) c.299C>G (p.Ser100Cys) | dbSNP |
| 11 | g.116832829C>T | CA382711429 | APOC3 | c.245C>T (p.Ser82Phe) c.299C>T (p.Ser100Phe) | gnomAD v4 |
| 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 |
| 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=) |