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.116830548dup | CA229318070 | APOC3 | c.-13-22dup (n.-13-22dup) c.20dup (p.His8SerfsTer?) n.20-22dup | dbSNP |
| 11 | g.116830547C>A | CA382709342 | APOC3 | c.-13-23C>A (n.-13-23C>A) c.19C>A (p.Pro7Thr) n.20-23C>A | |
| 11 | g.116830547C>G | CA382709344 | APOC3 | c.-13-23C>G (n.-13-23C>G) c.19C>G (p.Pro7Ala) n.20-23C>G | |
| 11 | g.116830547C>T | CA382709346 | APOC3 | c.-13-23C>T (n.-13-23C>T) c.19C>T (p.Pro7Ser) n.20-23C>T | |
| 11 | g.116830548C>A | CA382709348 | APOC3 | c.-13-22C>A (n.-13-22C>A) c.20C>A (p.Pro7His) n.20-22C>A | |
| 11 | g.116830548C>G | CA382709350 | APOC3 | c.-13-22C>G (n.-13-22C>G) c.20C>G (p.Pro7Arg) n.20-22C>G | |
| 11 | g.116830548C>T | CA382709352 | APOC3 | c.-13-22C>T (n.-13-22C>T) c.20C>T (p.Pro7Leu) n.20-22C>T | |
| 11 | g.116830549T>A | CA602136445 | APOC3 | c.-13-21T>A (n.-13-21T>A) c.21T>A (p.Pro7=) n.20-21T>A | dbSNP gnomAD v2 |
| 11 | g.116830549T>C | CA2002758766 | APOC3 | c.-13-21T>C (n.-13-21T>C) c.21T>C (p.Pro7=) n.20-21T>C | dbSNP |
| 11 | g.116830549T>G | CA2520163916 | APOC3 | c.-13-21T>G (n.-13-21T>G) c.21T>G (p.Pro7=) n.20-21T>G | gnomAD v4 |
| 11 | g.116830549T= | CA2002758767 | APOC3 | c.-13-21T= (n.-13-21T=) c.21T= (p.Pro7=) n.20-21T= | |
| 11 | g.116830550C>A | CA382709354 | APOC3 | c.-13-20C>A (n.-13-20C>A) c.22C>A (p.His8Asn) n.20-20C>A | |
| 11 | g.116830550C>G | CA382709355 | APOC3 | c.-13-20C>G (n.-13-20C>G) c.22C>G (p.His8Asp) n.20-20C>G | |
| 11 | g.116830550C>T | CA382709357 | APOC3 | c.-13-20C>T (n.-13-20C>T) c.22C>T (p.His8Tyr) n.20-20C>T | |
| 11 | g.116830551A>C | CA382709362 | APOC3 | c.-13-19A>C (n.-13-19A>C) c.23A>C (p.His8Pro) n.20-19A>C | |
| 11 | g.116830551A>G | CA382709359 | APOC3 | c.-13-19A>G (n.-13-19A>G) c.23A>G (p.His8Arg) n.20-19A>G | |
| 11 | g.116830551A>T | CA382709360 | APOC3 | c.-13-19A>T (n.-13-19A>T) c.23A>T (p.His8Leu) n.20-19A>T | |
| 11 | g.116830552C>A | CA6289598 | APOC3 | c.-13-18C>A (n.-13-18C>A) c.24C>A (p.His8Gln) n.20-18C>A | dbSNP ExAC gnomAD v4 |
| 11 | g.116830552C= | CA2002758768 | APOC3 | c.-13-18C= (n.-13-18C=) c.24C= (p.His8=) n.20-18C= | |
| 11 | g.116830552C>G | CA382709365 | APOC3 | c.-13-18C>G (n.-13-18C>G) c.24C>G (p.His8Gln) n.20-18C>G | |
| 11 | g.116830553A= | CA2002758769 | APOC3 | c.-13-17A= (n.-13-17A=) c.25A= (p.Arg9=) n.20-17A= | |
| 11 | g.116830553A>C | CA2002758770 | APOC3 | c.-13-17A>C (n.-13-17A>C) c.25A>C (p.Arg9=) n.20-17A>C | dbSNP |
| 11 | g.116830553A>G | CA382709367 | APOC3 | c.-13-17A>G (n.-13-17A>G) c.25A>G (p.Arg9Gly) n.20-17A>G | |
| 11 | g.116830553A>T | CA382709368 | APOC3 | c.-13-17A>T (n.-13-17A>T) c.25A>T (p.Arg9Trp) n.20-17A>T | |
| 11 | g.116830554G>A | CA382709371 | APOC3 | c.-13-16G>A (n.-13-16G>A) c.26G>A (p.Arg9Lys) n.20-16G>A | |
| 11 | g.116830554G>C | CA382709372 | APOC3 | c.-13-16G>C (n.-13-16G>C) c.26G>C (p.Arg9Thr) n.20-16G>C | |
| 11 | g.116830554G>T | CA382709375 | APOC3 | c.-13-16G>T (n.-13-16G>T) c.26G>T (p.Arg9Met) n.20-16G>T | |
| 11 | g.116830555G>A | CA602136446 | APOC3 | c.-13-15G>A (n.-13-15G>A) c.27G>A (p.Arg9=) n.20-15G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116830555G>C | CA382709377 | APOC3 | c.-13-15G>C (n.-13-15G>C) c.27G>C (p.Arg9Ser) n.20-15G>C | |
| 11 | g.116830555G= | CA2002758771 | APOC3 | c.-13-15G= (n.-13-15G=) c.27G= (p.Arg9=) n.20-15G= | |
| 11 | g.116830555G>T | CA382709379 | APOC3 | c.-13-15G>T (n.-13-15G>T) c.27G>T (p.Arg9Ser) n.20-15G>T | |
| 11 | g.116830556A= | CA2002758772 | APOC3 | c.-13-14A= (n.-13-14A=) c.28A= (p.Thr10=) n.20-14A= | |
| 11 | g.116830556A>C | CA382709381 | APOC3 | c.-13-14A>C (n.-13-14A>C) c.28A>C (p.Thr10Pro) n.20-14A>C | |
| 11 | g.116830556A>G | CA6289599 | APOC3 | c.-13-14A>G (n.-13-14A>G) c.28A>G (p.Thr10Ala) n.20-14A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116830556A>T | CA382709384 | APOC3 | c.-13-14A>T (n.-13-14A>T) c.28A>T (p.Thr10Ser) n.20-14A>T | dbSNP gnomAD v4 |
| 11 | g.116830557C>A | CA382709388 | APOC3 | c.-13-13C>A (n.-13-13C>A) c.29C>A (p.Thr10Lys) n.20-13C>A | dbSNP |
| 11 | g.116830557C= | CA2002758773 | APOC3 | c.-13-13C= (n.-13-13C=) c.29C= (p.Thr10=) n.20-13C= | |
| 11 | g.116830557C>G | CA382709390 | APOC3 | c.-13-13C>G (n.-13-13C>G) c.29C>G (p.Thr10Arg) n.20-13C>G | |
| 11 | g.116830557C>T | CA6289600 | APOC3 | c.-13-13C>T (n.-13-13C>T) c.29C>T (p.Thr10Ile) n.20-13C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116830558A= | CA2002758774 | APOC3 | c.-13-12A= (n.-13-12A=) c.30A= (p.Thr10=) n.20-12A= | |
| 11 | g.116830558A>C | CA672198962 | APOC3 | c.-13-12A>C (n.-13-12A>C) c.30A>C (p.Thr10=) n.20-12A>C | dbSNP |
| 11 | g.116830558A>G | CA2616110907 | APOC3 | c.-13-12A>G (n.-13-12A>G) c.30A>G (p.Thr10=) n.20-12A>G | gnomAD v4 |
| 11 | g.116830559C>A | CA382709395 | APOC3 | c.-13-11C>A (n.-13-11C>A) c.31C>A (p.Leu11Ile) n.20-11C>A | |
| 11 | g.116830559C>G | CA382709391 | APOC3 | c.-13-11C>G (n.-13-11C>G) c.31C>G (p.Leu11Val) n.20-11C>G | dbSNP |
| 11 | g.116830559C>T | CA382709393 | APOC3 | c.-13-11C>T (n.-13-11C>T) c.31C>T (p.Leu11Phe) n.20-11C>T | gnomAD v4 |
| 11 | g.116830560T>A | CA382709397 | APOC3 | c.-13-10T>A (n.-13-10T>A) c.32T>A (p.Leu11His) n.20-10T>A | |
| 11 | g.116830560T>C | CA382709399 | APOC3 | c.-13-10T>C (n.-13-10T>C) c.32T>C (p.Leu11Pro) n.20-10T>C | |
| 11 | g.116830560T>G | CA382709401 | APOC3 | c.-13-10T>G (n.-13-10T>G) c.32T>G (p.Leu11Arg) n.20-10T>G | |
| 11 | g.116830561T>C | CA2002758776 | APOC3 | c.-13-9T>C (n.-13-9T>C) c.33T>C (p.Leu11=) n.20-9T>C | dbSNP |
| 11 | g.116830561T= | CA2002758775 | APOC3 | c.-13-9T= (n.-13-9T=) c.33T= (p.Leu11=) n.20-9T= | |
| 11 | g.116830562C>A | CA382709406 | APOC3 | c.-13-8C>A (n.-13-8C>A) c.34C>A (p.Pro12Thr) n.20-8C>A | |
| 11 | g.116830562C>G | CA382709405 | APOC3 | c.-13-8C>G (n.-13-8C>G) c.34C>G (p.Pro12Ala) n.20-8C>G | |
| 11 | g.116830562C>T | CA382709404 | APOC3 | c.-13-8C>T (n.-13-8C>T) c.34C>T (p.Pro12Ser) n.20-8C>T | |
| 11 | g.116830562_116830563insT | CA654624849 | APOC3 | c.-13-8_-13-7insT (n.-13-8_-13-7insT) c.34_35insT (p.Pro12LeufsTer?) n.20-8_20-7insT | COSMIC |
| 11 | g.116830563C>A | CA382709409 | APOC3 | c.-13-7C>A (n.-13-7C>A) c.35C>A (p.Pro12His) n.20-7C>A | |
| 11 | g.116830563C>G | CA382709411 | APOC3 | c.-13-7C>G (n.-13-7C>G) c.35C>G (p.Pro12Arg) n.20-7C>G | |
| 11 | g.116830563C>T | CA382709412 | APOC3 | c.-13-7C>T (n.-13-7C>T) c.35C>T (p.Pro12Leu) n.20-7C>T | dbSNP gnomAD v4 |
| 11 | g.116830564T>C | CA602136447 | APOC3 | c.-13-6T>C (n.-13-6T>C) c.36T>C (p.Pro12=) n.20-6T>C | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116830564T= | CA2002758777 | APOC3 | c.-13-6T= (n.-13-6T=) c.36T= (p.Pro12=) n.20-6T= | |
| 11 | g.116830565T>A | CA382709415 | APOC3 | c.-13-5T>A (n.-13-5T>A) c.37T>A (p.Cys13Ser) n.20-5T>A | |
| 11 | g.116830565T>C | CA382709416 | APOC3 | c.-13-5T>C (n.-13-5T>C) c.37T>C (p.Cys13Arg) n.20-5T>C | gnomAD v4 |
| 11 | g.116830565T>G | CA6289601 | APOC3 | c.-13-5T>G (n.-13-5T>G) c.37T>G (p.Cys13Gly) n.20-5T>G | dbSNP ExAC gnomAD v2 |
| 11 | g.116830565T= | CA2002758778 | APOC3 | c.-13-5T= (n.-13-5T=) c.37T= (p.Cys13=) n.20-5T= | |
| 11 | g.116830566G>A | CA382709422 | APOC3 | c.-13-4G>A (n.-13-4G>A) c.38G>A (p.Cys13Tyr) n.20-4G>A | |
| 11 | g.116830566G>C | CA382709417 | APOC3 | c.-13-4G>C (n.-13-4G>C) c.38G>C (p.Cys13Ser) n.20-4G>C | |
| 11 | g.116830566G>T | CA382709420 | APOC3 | c.-13-4G>T (n.-13-4G>T) c.38G>T (p.Cys13Phe) n.20-4G>T | |
| 11 | g.116830567C>A | CA382709423 | APOC3 | c.-13-3C>A (n.-13-3C>A) c.39C>A (p.Cys13Ter) n.20-3C>A | dbSNP gnomAD v4 |
| 11 | g.116830567C= | CA2002758779 | APOC3 | c.-13-3C= (n.-13-3C=) c.39C= (p.Cys13=) n.20-3C= | |
| 11 | g.116830567C>G | CA382709425 | APOC3 | c.-13-3C>G (n.-13-3C>G) c.39C>G (p.Cys13Trp) n.20-3C>G | |
| 11 | g.116830568A= | CA2002758780 | APOC3 | c.-13-2A= (n.-13-2A=) c.40A= (p.Arg14=) n.20-2A= | |
| 11 | g.116830568A>C | CA2695215576 | APOC3 | c.-13-2A>C (n.-13-2A>C) c.40A>C (p.Arg14=) n.20-2A>C | |
| 11 | g.116830568A>G | CA6289602 | APOC3 | c.-13-2A>G (n.-13-2A>G) c.40A>G (p.Arg14Gly) n.20-2A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116830568A>T | CA382709428 | APOC3 | c.-13-2A>T (n.-13-2A>T) c.40A>T (p.Arg14Trp) n.20-2A>T | |
| 11 | g.116830569G>A | CA382709431 | APOC3 | c.-13-1G>A (n.-13-1G>A) c.41G>A (p.Arg14Lys) n.20-1G>A | |
| 11 | g.116830569G>C | CA382709432 | APOC3 | c.-13-1G>C (n.-13-1G>C) c.41G>C (p.Arg14Thr) n.20-1G>C | |
| 11 | g.116830569G>T | CA382709433 | APOC3 | c.-13-1G>T (n.-13-1G>T) c.41G>T (p.Arg14Met) n.20-1G>T | |
| 11 | g.116830570G>A | CA602136449 | APOC3 | c.-13G>A (n.-13G>A) c.42G>A (p.Arg14=) n.20G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116830570G>C | CA382709436 | APOC3 | c.-13G>C (n.-13G>C) c.42G>C (p.Arg14Ser) n.20G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116830570G= | CA2002758781 | APOC3 | c.-13G= (n.-13G=) c.42G= (p.Arg14=) n.20G= | |
| 11 | g.116830570G>T | CA382709438 | APOC3 | c.-13G>T (n.-13G>T) c.42G>T (p.Arg14Ser) n.20G>T | |
| 11 | g.116830571A>C | CA382709440 | APOC3 | c.-12A>C (n.-12A>C) c.43A>C (p.Asn15His) n.21A>C | |
| 11 | g.116830571A>G | CA382709442 | APOC3 | c.-12A>G (n.-12A>G) c.43A>G (p.Asn15Asp) n.21A>G | |
| 11 | g.116830571A>T | CA382709444 | APOC3 | c.-12A>T (n.-12A>T) c.43A>T (p.Asn15Tyr) n.21A>T | |
| 11 | g.116830572A>C | CA382709445 | APOC3 | c.-11A>C (n.-11A>C) c.44A>C (p.Asn15Thr) n.22A>C | |
| 11 | g.116830572A>G | CA382709449 | APOC3 | c.-11A>G (n.-11A>G) c.44A>G (p.Asn15Ser) n.22A>G | |
| 11 | g.116830572A>T | CA382709446 | APOC3 | c.-11A>T (n.-11A>T) c.44A>T (p.Asn15Ile) n.22A>T | |
| 11 | g.116830573C>A | CA382709451 | APOC3 | c.-10C>A (n.-10C>A) c.45C>A (p.Asn15Lys) n.23C>A | |
| 11 | g.116830573C>G | CA382709453 | APOC3 | c.-10C>G (n.-10C>G) c.45C>G (p.Asn15Lys) n.23C>G | |
| 11 | g.116830574A>G | CA382709454 | APOC3 | c.-9A>G (n.-9A>G) c.46A>G (p.Arg16Gly) n.24A>G | |
| 11 | g.116830574A>T | CA382709455 | APOC3 | c.-9A>T (n.-9A>T) c.46A>T (p.Arg16Ter) n.24A>T | |
| 11 | g.116830575G>A | CA382709459 | APOC3 | c.-8G>A (n.-8G>A) c.47G>A (p.Arg16Lys) n.25G>A | |
| 11 | g.116830575G>C | CA382709460 | APOC3 | c.-8G>C (n.-8G>C) c.47G>C (p.Arg16Thr) n.25G>C | |
| 11 | g.116830575G>T | CA382709461 | APOC3 | c.-8G>T (n.-8G>T) c.47G>T (p.Arg16Ile) n.25G>T | |
| 11 | g.116830576A>C | CA382709464 | APOC3 | c.-7A>C (n.-7A>C) c.48A>C (p.Arg16Ser) n.26A>C | |
| 11 | g.116830576A>T | CA382709466 | APOC3 | c.-7A>T (n.-7A>T) c.48A>T (p.Arg16Ser) n.26A>T | |
| 11 | g.116830577G>A | CA382709468 | APOC3 | c.-6G>A (n.-6G>A) c.49G>A (p.Gly17Ser) n.27G>A | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116830577G>C | CA382709470 | APOC3 | c.-6G>C (n.-6G>C) c.49G>C (p.Gly17Arg) n.27G>C | |
| 11 | g.116830577G= | CA2002758782 | APOC3 | c.-6G= (n.-6G=) c.49G= (p.Gly17=) n.27G= | |
| 11 | g.116830577G>T | CA382709472 | APOC3 | c.-6G>T (n.-6G>T) c.49G>T (p.Gly17Cys) n.27G>T | |
| 11 | g.116830578G>A | CA382709478 | APOC3 | c.-5G>A (n.-5G>A) c.50G>A (p.Gly17Asp) n.28G>A | |
| 11 | g.116830578G>C | CA382709474 | APOC3 | c.-5G>C (n.-5G>C) c.50G>C (p.Gly17Ala) n.28G>C | |
| 11 | g.116830578G>T | CA382709475 | APOC3 | c.-5G>T (n.-5G>T) c.50G>T (p.Gly17Val) n.28G>T | gnomAD v4 |
| 11 | g.116830580G>A | CA382709480 | APOC3 | c.-3G>A (n.-3G>A) c.52G>A (p.Ala18Thr) n.30G>A | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116830580G>C | CA382709482 | APOC3 | c.-3G>C (n.-3G>C) c.52G>C (p.Ala18Pro) n.30G>C | |
| 11 | g.116830580G= | CA2002758783 | APOC3 | c.-3G= (n.-3G=) c.52G= (p.Ala18=) n.30G= | |
| 11 | g.116830580G>T | CA382709484 | APOC3 | c.-3G>T (n.-3G>T) c.52G>T (p.Ala18Ser) n.30G>T | COSMIC |
| 11 | g.116830581C>A | CA382709486 | APOC3 | c.-2C>A (n.-2C>A) c.53C>A (p.Ala18Asp) n.31C>A | |
| 11 | g.116830581C>G | CA382709488 | APOC3 | c.-2C>G (n.-2C>G) c.53C>G (p.Ala18Gly) n.31C>G | |
| 11 | g.116830581C>T | CA382709490 | APOC3 | c.-2C>T (n.-2C>T) c.53C>T (p.Ala18Val) n.31C>T | gnomAD v4 |
| 11 | g.116830582C= | CA2002758784 | APOC3 | c.-1C= (n.-1C=) c.54C= (p.Ala18=) n.32C= | |
| 11 | g.116830582C>T | CA672198996 | APOC3 | c.-1C>T (n.-1C>T) c.54C>T (p.Ala18=) n.32C>T | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116830583A= | CA2002758785 | APOC3 | c.1A= (p.Met1=) c.55A= (p.Met19=) n.33A= | |
| 11 | g.116830583A>C | CA382709492 | APOC3 | c.1A>C (p.Met1Leu) c.55A>C (p.Met19Leu) n.33A>C | |
| 11 | g.116830583A>G | CA382709495 | APOC3 | c.1A>G (p.Met1Val) c.55A>G (p.Met19Val) n.33A>G | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116830583A>T | CA6289603 | APOC3 | c.1A>T (p.Met1Leu) c.55A>T (p.Met19Leu) n.33A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116830584T>A | CA382709497 | APOC3 | c.2T>A (p.Met1Lys) c.56T>A (p.Met19Lys) n.34T>A | |
| 11 | g.116830584T>C | CA229318096 | APOC3 | c.2T>C (p.Met1Thr) c.56T>C (p.Met19Thr) n.34T>C | dbSNP gnomAD v4 |
| 11 | g.116830584T>G | CA382709500 | APOC3 | c.2T>G (p.Met1Arg) c.56T>G (p.Met19Arg) n.34T>G | gnomAD v4 |
| 11 | g.116830584T= | CA2002758786 | APOC3 | c.2T= (p.Met1=) c.56T= (p.Met19=) n.34T= | |
| 11 | g.116830585G>A | CA382709504 | APOC3 | c.3G>A (p.Met1Ile) c.57G>A (p.Met19Ile) n.35G>A | |
| 11 | g.116830585G>C | CA382709505 | APOC3 | c.3G>C (p.Met1Ile) c.57G>C (p.Met19Ile) n.35G>C | |
| 11 | g.116830585G= | CA2002758787 | APOC3 | c.3G= (p.Met1=) c.57G= (p.Met19=) n.35G= | |
| 11 | g.116830585G>T | CA6289604 | APOC3 | c.3G>T (p.Met1Ile) c.57G>T (p.Met19Ile) n.35G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116830586C>A | CA382709510 | APOC3 | c.4C>A (p.Gln2Lys) c.58C>A (p.Gln20Lys) n.36C>A | |
| 11 | g.116830586C>G | CA382709508 | APOC3 | c.4C>G (p.Gln2Glu) c.58C>G (p.Gln20Glu) n.36C>G | |
| 11 | g.116830586C>T | CA382709509 | APOC3 | c.4C>T (p.Gln2Ter) c.58C>T (p.Gln20Ter) n.36C>T | |
| 11 | g.116830587A>C | CA382709511 | APOC3 | c.5A>C (p.Gln2Pro) c.59A>C (p.Gln20Pro) n.37A>C | |
| 11 | g.116830587A>G | CA382709514 | APOC3 | c.5A>G (p.Gln2Arg) c.59A>G (p.Gln20Arg) n.37A>G | |
| 11 | g.116830587A>T | CA382709515 | APOC3 | c.5A>T (p.Gln2Leu) c.59A>T (p.Gln20Leu) n.37A>T | |
| 11 | g.116830588G>A | CA477048319 | APOC3 | c.6G>A (p.Gln2=) c.60G>A (p.Gln20=) n.38G>A | dbSNP gnomAD v4 |
| 11 | g.116830588G>C | CA382709518 | APOC3 | c.6G>C (p.Gln2His) c.60G>C (p.Gln20His) n.38G>C | |
| 11 | g.116830588G= | CA2002758788 | APOC3 | c.6G= (p.Gln2=) c.60G= (p.Gln20=) n.38G= | |
| 11 | g.116830588G>T | CA382709520 | APOC3 | c.6G>T (p.Gln2His) c.60G>T (p.Gln20His) n.38G>T | |
| 11 | g.116830589C>A | CA382709522 | APOC3 | c.7C>A (p.Pro3Thr) c.61C>A (p.Pro21Thr) n.39C>A | |
| 11 | g.116830589C= | CA2002758789 | APOC3 | c.7C= (p.Pro3=) c.61C= (p.Pro21=) n.39C= | |
| 11 | g.116830589C>G | CA382709524 | APOC3 | c.7C>G (p.Pro3Ala) c.61C>G (p.Pro21Ala) n.39C>G | |
| 11 | g.116830589C>T | CA6289605 | APOC3 | c.7C>T (p.Pro3Ser) c.61C>T (p.Pro21Ser) n.39C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116830590C>A | CA382709527 | APOC3 | c.8C>A (p.Pro3His) c.62C>A (p.Pro21His) n.40C>A | |
| 11 | g.116830590C= | CA2002758790 | APOC3 | c.8C= (p.Pro3=) c.62C= (p.Pro21=) n.40C= | |
| 11 | g.116830590C>G | CA382709529 | APOC3 | c.8C>G (p.Pro3Arg) c.62C>G (p.Pro21Arg) n.40C>G | |
| 11 | g.116830590C>T | CA382709530 | APOC3 | c.8C>T (p.Pro3Leu) c.62C>T (p.Pro21Leu) n.40C>T | dbSNP gnomAD v4 |
| 11 | g.116830591C>A | CA477048323 | APOC3 | c.9C>A (p.Pro3=) c.63C>A (p.Pro21=) n.41C>A | |
| 11 | g.116830591C>G | CA477048325 | APOC3 | c.9C>G (p.Pro3=) c.63C>G (p.Pro21=) n.41C>G | gnomAD v4 |
| 11 | g.116830591C>T | CA477048324 | APOC3 | c.9C>T (p.Pro3=) c.63C>T (p.Pro21=) n.41C>T | |
| 11 | g.116830592C>A | CA477048327 | APOC3 | c.10C>A (p.Arg4=) c.64C>A (p.Arg22=) n.42C>A | |
| 11 | g.116830592C= | CA2002758791 | APOC3 | c.10C= (p.Arg4=) c.64C= (p.Arg22=) n.42C= | |
| 11 | g.116830592C>G | CA6289607 | APOC3 | c.10C>G (p.Arg4Gly) c.64C>G (p.Arg22Gly) n.42C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116830592C>T | CA6289606 | APOC3 | c.10C>T (p.Arg4Trp) c.64C>T (p.Arg22Trp) n.42C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.116830593G>A | CA6289608 | APOC3 | c.11G>A (p.Arg4Gln) c.65G>A (p.Arg22Gln) n.43G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116830593G>C | CA382709536 | APOC3 | c.11G>C (p.Arg4Pro) c.65G>C (p.Arg22Pro) n.43G>C | |
| 11 | g.116830593G= | CA2002758792 | APOC3 | c.11G= (p.Arg4=) c.65G= (p.Arg22=) n.43G= | |
| 11 | g.116830593G>T | CA382709538 | APOC3 | c.11G>T (p.Arg4Leu) c.65G>T (p.Arg22Leu) n.43G>T | gnomAD v4 |
| 11 | g.116830594G>A | CA6289609 | APOC3 | c.12G>A (p.Arg4=) c.66G>A (p.Arg22=) n.44G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116830594G>C | CA477048328 | APOC3 | c.12G>C (p.Arg4=) c.66G>C (p.Arg22=) n.44G>C | gnomAD v4 |
| 11 | g.116830594G= | CA2002758793 | APOC3 | c.12G= (p.Arg4=) c.66G= (p.Arg22=) n.44G= | |
| 11 | g.116830594G>T | CA477048329 | APOC3 | c.12G>T (p.Arg4=) c.66G>T (p.Arg22=) n.44G>T | |
| 11 | g.116830595G>A | CA382709542 | APOC3 | c.13G>A (p.Val5Ile) c.67G>A (p.Val23Ile) n.45G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116830595G>C | CA382709544 | APOC3 | c.13G>C (p.Val5Leu) c.67G>C (p.Val23Leu) n.45G>C | |
| 11 | g.116830595G= | CA2002758794 | APOC3 | c.13G= (p.Val5=) c.67G= (p.Val23=) n.45G= | |
| 11 | g.116830595G>T | CA382709546 | APOC3 | c.13G>T (p.Val5Leu) c.67G>T (p.Val23Leu) n.45G>T | |
| 11 | g.116830596T>A | CA382709549 | APOC3 | c.14T>A (p.Val5Glu) c.68T>A (p.Val23Glu) n.46T>A | |
| 11 | g.116830596T>C | CA382709551 | APOC3 | c.14T>C (p.Val5Ala) c.68T>C (p.Val23Ala) n.46T>C | |
| 11 | g.116830596T>G | CA382709552 | APOC3 | c.14T>G (p.Val5Gly) c.68T>G (p.Val23Gly) n.46T>G | |
| 11 | g.116830597A>C | CA477048334 | APOC3 | c.15A>C (p.Val5=) c.69A>C (p.Val23=) n.47A>C | |
| 11 | g.116830597A>G | CA477048336 | APOC3 | c.15A>G (p.Val5=) c.69A>G (p.Val23=) n.47A>G | |
| 11 | g.116830597A>T | CA477048335 | APOC3 | c.15A>T (p.Val5=) c.69A>T (p.Val23=) n.47A>T | |
| 11 | g.116830598C>A | CA382709555 | APOC3 | c.16C>A (p.Leu6Ile) c.70C>A (p.Leu24Ile) n.48C>A | |
| 11 | g.116830598C= | CA2002758795 | APOC3 | c.16C= (p.Leu6=) c.70C= (p.Leu24=) n.48C= | |
| 11 | g.116830598C>G | CA382709557 | APOC3 | c.16C>G (p.Leu6Val) c.70C>G (p.Leu24Val) n.48C>G | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116830598C>T | CA229318169 | APOC3 | c.16C>T (p.Leu6Phe) c.70C>T (p.Leu24Phe) n.48C>T | dbSNP gnomAD v4 |
| 11 | g.116830599T>A | CA382709562 | APOC3 | c.17T>A (p.Leu6His) c.71T>A (p.Leu24His) n.49T>A | |
| 11 | g.116830599T>C | CA382709564 | APOC3 | c.17T>C (p.Leu6Pro) c.71T>C (p.Leu24Pro) n.49T>C | |
| 11 | g.116830599T>G | CA382709561 | APOC3 | c.17T>G (p.Leu6Arg) c.71T>G (p.Leu24Arg) n.49T>G | |
| 11 | g.116830600C>A | CA477048337 | APOC3 | c.18C>A (p.Leu6=) c.72C>A (p.Leu24=) n.50C>A | dbSNP gnomAD v2 |
| 11 | g.116830600C= | CA2002758796 | APOC3 | c.18C= (p.Leu6=) c.72C= (p.Leu24=) n.50C= | |
| 11 | g.116830600C>G | CA477048338 | APOC3 | c.18C>G (p.Leu6=) c.72C>G (p.Leu24=) n.50C>G | |
| 11 | g.116830600C>T | CA477048339 | APOC3 | c.18C>T (p.Leu6=) c.72C>T (p.Leu24=) n.50C>T | |
| 11 | g.116830600_116830603delinsCCTT | CA2002758797 | APOC3 | c.18_21delinsCCTT (p.Leu6=) c.72_75delinsCCTT (p.Leu24=) n.50_53delinsCCTT | |
| 11 | g.116830601C>A | CA382709567 | APOC3 | c.19C>A (p.Leu7Ile) c.73C>A (p.Leu25Ile) n.51C>A | |
| 11 | g.116830601C>G | CA382709569 | APOC3 | c.19C>G (p.Leu7Val) c.73C>G (p.Leu25Val) n.51C>G | COSMIC |
| 11 | g.116830601C>T | CA382709571 | APOC3 | c.19C>T (p.Leu7Phe) c.73C>T (p.Leu25Phe) n.51C>T | |
| 11 | g.116830601_116830603del | CA6289610 | APOC3 | c.19_21del (p.Leu7del) c.73_75del (p.Leu25del) n.51_53del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116830601_116830604delinsCTTG | CA2002758798 | APOC3 | c.19_22delinsCTTG (p.Leu7=) c.73_76delinsCTTG (p.Leu25=) n.51_54delinsCTTG | |
| 11 | g.116830602T>A | CA382709574 | APOC3 | c.20T>A (p.Leu7His) c.74T>A (p.Leu25His) n.52T>A | |
| 11 | g.116830602T>C | CA382709576 | APOC3 | c.20T>C (p.Leu7Pro) c.74T>C (p.Leu25Pro) n.52T>C | |
| 11 | g.116830602T>G | CA382709578 | APOC3 | c.20T>G (p.Leu7Arg) c.74T>G (p.Leu25Arg) n.52T>G | |
| 11 | g.116830608_116830610del | CA602136456 | APOC3 | c.26_28del (p.Val9del) c.80_82del (p.Val27del) n.58_60del | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116830603T>A | CA477048340 | APOC3 | c.21T>A (p.Leu7=) c.75T>A (p.Leu25=) n.53T>A | |
| 11 | g.116830603T>C | CA477048341 | APOC3 | c.21T>C (p.Leu7=) c.75T>C (p.Leu25=) n.53T>C | |
| 11 | g.116830603T>G | CA6289611 | APOC3 | c.21T>G (p.Leu7=) c.75T>G (p.Leu25=) n.53T>G | dbSNP ExAC |
| 11 | g.116830603T= | CA2002758799 | APOC3 | c.21T= (p.Leu7=) c.75T= (p.Leu25=) n.53T= | |
| 11 | g.116830604G>A | CA382709581 | APOC3 | c.22G>A (p.Val8Ile) c.76G>A (p.Val26Ile) n.54G>A | gnomAD v4 |
| 11 | g.116830604G>C | CA382709582 | APOC3 | c.22G>C (p.Val8Leu) c.76G>C (p.Val26Leu) n.54G>C | |
| 11 | g.116830604G>T | CA382709584 | APOC3 | c.22G>T (p.Val8Phe) c.76G>T (p.Val26Phe) n.54G>T | |
| 11 | g.116830605T>A | CA382709587 | APOC3 | c.23T>A (p.Val8Asp) c.77T>A (p.Val26Asp) n.55T>A | |
| 11 | g.116830605T>C | CA382709589 | APOC3 | c.23T>C (p.Val8Ala) c.77T>C (p.Val26Ala) n.55T>C | gnomAD v4 |
| 11 | g.116830605T>G | CA382709591 | APOC3 | c.23T>G (p.Val8Gly) c.77T>G (p.Val26Gly) n.55T>G | |
| 11 | g.116830606T>A | CA477048344 | APOC3 | c.24T>A (p.Val8=) c.78T>A (p.Val26=) n.56T>A | |
| 11 | g.116830606T>C | CA477048343 | APOC3 | c.24T>C (p.Val8=) c.78T>C (p.Val26=) n.56T>C | |
| 11 | g.116830606T>G | CA477048342 | APOC3 | c.24T>G (p.Val8=) c.78T>G (p.Val26=) n.56T>G | |
| 11 | g.116830607G>A | CA382709597 | APOC3 | c.25G>A (p.Val9Ile) c.79G>A (p.Val27Ile) n.57G>A | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116830607G>C | CA382709595 | APOC3 | c.25G>C (p.Val9Leu) c.79G>C (p.Val27Leu) n.57G>C | |
| 11 | g.116830607G= | CA2002758800 | APOC3 | c.25G= (p.Val9=) c.79G= (p.Val27=) n.57G= | |
| 11 | g.116830607G>T | CA382709594 | APOC3 | c.25G>T (p.Val9Phe) c.79G>T (p.Val27Phe) n.57G>T | COSMIC |
| 11 | g.116830608T>A | CA382709599 | APOC3 | c.26T>A (p.Val9Asp) c.80T>A (p.Val27Asp) n.58T>A | |
| 11 | g.116830608T>C | CA382709601 | APOC3 | c.26T>C (p.Val9Ala) c.80T>C (p.Val27Ala) n.58T>C | |
| 11 | g.116830608T>G | CA382709602 | APOC3 | c.26T>G (p.Val9Gly) c.80T>G (p.Val27Gly) n.58T>G | |
| 11 | g.116830609T>A | CA477048345 | APOC3 | c.27T>A (p.Val9=) c.81T>A (p.Val27=) n.59T>A | |
| 11 | g.116830609T>C | CA477048346 | APOC3 | c.27T>C (p.Val9=) c.81T>C (p.Val27=) n.59T>C | |
| 11 | g.116830609T>G | CA477048347 | APOC3 | c.27T>G (p.Val9=) c.81T>G (p.Val27=) n.59T>G | |
| 11 | g.116830610G>A | CA6289612 | APOC3 | c.28G>A (p.Ala10Thr) c.82G>A (p.Ala28Thr) n.60G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116830610G>C | CA382709605 | APOC3 | c.28G>C (p.Ala10Pro) c.82G>C (p.Ala28Pro) n.60G>C | |
| 11 | g.116830610G= | CA2002758801 | APOC3 | c.28G= (p.Ala10=) c.82G= (p.Ala28=) n.60G= | |
| 11 | g.116830610G>T | CA382709606 | APOC3 | c.28G>T (p.Ala10Ser) c.82G>T (p.Ala28Ser) n.60G>T | gnomAD v4 |
| 11 | g.116830611C>A | CA382709609 | APOC3 | c.29C>A (p.Ala10Asp) c.83C>A (p.Ala28Asp) n.61C>A | |
| 11 | g.116830611C>G | CA382709610 | APOC3 | c.29C>G (p.Ala10Gly) c.83C>G (p.Ala28Gly) n.61C>G | |
| 11 | g.116830611C>T | CA382709613 | APOC3 | c.29C>T (p.Ala10Val) c.83C>T (p.Ala28Val) n.61C>T | gnomAD v4 |
| 11 | g.116830612C>A | CA477048348 | APOC3 | c.30C>A (p.Ala10=) c.84C>A (p.Ala28=) n.62C>A | |
| 11 | g.116830612C= | CA2002758802 | APOC3 | c.30C= (p.Ala10=) c.84C= (p.Ala28=) n.62C= | |
| 11 | g.116830612C>G | CA477048349 | APOC3 | c.30C>G (p.Ala10=) c.84C>G (p.Ala28=) n.62C>G | |
| 11 | g.116830612C>T | CA6289613 | APOC3 | c.30C>T (p.Ala10=) c.84C>T (p.Ala28=) n.62C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116830613C>A | CA382709615 | APOC3 | c.31C>A (p.Leu11Ile) c.85C>A (p.Leu29Ile) n.63C>A | |
| 11 | g.116830613C>G | CA382709616 | APOC3 | c.31C>G (p.Leu11Val) c.85C>G (p.Leu29Val) n.63C>G | |
| 11 | g.116830613C>T | CA382709618 | APOC3 | c.31C>T (p.Leu11Phe) c.85C>T (p.Leu29Phe) n.63C>T | gnomAD v4 |
| 11 | g.116830621_116830629del | CA942637541 | APOC3 | c.39_47del (p.Leu14_Ala16del) c.93_101del (p.Leu32_Ala34del) n.71_79del | gnomAD v3 gnomAD v4 |
| 11 | g.116830614T>A | CA382709621 | APOC3 | c.32T>A (p.Leu11His) c.86T>A (p.Leu29His) n.64T>A | dbSNP |
| 11 | g.116830614T>C | CA382709624 | APOC3 | c.32T>C (p.Leu11Pro) c.86T>C (p.Leu29Pro) n.64T>C | |
| 11 | g.116830614T>G | CA382709622 | APOC3 | c.32T>G (p.Leu11Arg) c.86T>G (p.Leu29Arg) n.64T>G | |
| 11 | g.116830614T= | CA2002758803 | APOC3 | c.32T= (p.Leu11=) c.86T= (p.Leu29=) n.64T= | |
| 11 | g.116830615C>A | CA477048350 | APOC3 | c.33C>A (p.Leu11=) c.87C>A (p.Leu29=) n.65C>A | |
| 11 | g.116830615C= | CA2002758804 | APOC3 | c.33C= (p.Leu11=) c.87C= (p.Leu29=) n.65C= | |
| 11 | g.116830615C>G | CA477048351 | APOC3 | c.33C>G (p.Leu11=) c.87C>G (p.Leu29=) n.65C>G | |
| 11 | g.116830615C>T | CA6289614 | APOC3 | c.33C>T (p.Leu11=) c.87C>T (p.Leu29=) n.65C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116830616C>A | CA382709629 | APOC3 | c.34C>A (p.Leu12Met) c.88C>A (p.Leu30Met) n.66C>A | |
| 11 | g.116830616C>G | CA382709627 | APOC3 | c.34C>G (p.Leu12Val) c.88C>G (p.Leu30Val) n.66C>G | |
| 11 | g.116830616C>T | CA477048352 | APOC3 | c.34C>T (p.Leu12=) c.88C>T (p.Leu30=) n.66C>T | |
| 11 | g.116830617T>A | CA382709635 | APOC3 | c.35T>A (p.Leu12Gln) c.89T>A (p.Leu30Gln) n.67T>A | |
| 11 | g.116830617T>C | CA382709632 | APOC3 | c.35T>C (p.Leu12Pro) c.89T>C (p.Leu30Pro) n.67T>C | |
| 11 | g.116830617T>G | CA382709633 | APOC3 | c.35T>G (p.Leu12Arg) c.89T>G (p.Leu30Arg) n.67T>G | |
| 11 | g.116830617dup | CA2574986549 | APOC3 | c.35dup (p.Ala13GlyfsTer?) c.89dup (p.Ala31GlyfsTer?) n.67dup | gnomAD v4 |
| 11 | g.116830618G>A | CA477048353 | APOC3 | c.36G>A (p.Leu12=) c.90G>A (p.Leu30=) n.68G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116830618G>C | CA477048355 | APOC3 | c.36G>C (p.Leu12=) c.90G>C (p.Leu30=) n.68G>C | |
| 11 | g.116830618G= | CA2002758805 | APOC3 | c.36G= (p.Leu12=) c.90G= (p.Leu30=) n.68G= | |
| 11 | g.116830618G>T | CA477048354 | APOC3 | c.36G>T (p.Leu12=) c.90G>T (p.Leu30=) n.68G>T | |
| 11 | g.116830619G>A | CA382709638 | APOC3 | c.37G>A (p.Ala13Thr) c.91G>A (p.Ala31Thr) n.69G>A | |
| 11 | g.116830619G>C | CA382709639 | APOC3 | c.37G>C (p.Ala13Pro) c.91G>C (p.Ala31Pro) n.69G>C | |
| 11 | g.116830619G>T | CA382709641 | APOC3 | c.37G>T (p.Ala13Ser) c.91G>T (p.Ala31Ser) n.69G>T | |
| 11 | g.116830620C>A | CA382709644 | APOC3 | c.38C>A (p.Ala13Glu) c.92C>A (p.Ala31Glu) n.70C>A | dbSNP gnomAD v4 |
| 11 | g.116830620C= | CA2002758806 | APOC3 | c.38C= (p.Ala13=) c.92C= (p.Ala31=) n.70C= | |
| 11 | g.116830620C>G | CA382709645 | APOC3 | c.38C>G (p.Ala13Gly) c.92C>G (p.Ala31Gly) n.70C>G | |
| 11 | g.116830620C>T | CA6289615 | APOC3 | c.38C>T (p.Ala13Val) c.92C>T (p.Ala31Val) n.70C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.116830621G>A | CA6289616 | APOC3 | c.39G>A (p.Ala13=) c.93G>A (p.Ala31=) n.71G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116830621G>C | CA477048356 | APOC3 | c.39G>C (p.Ala13=) c.93G>C (p.Ala31=) n.71G>C | |
| 11 | g.116830621G= | CA2002758807 | APOC3 | c.39G= (p.Ala13=) c.93G= (p.Ala31=) n.71G= | |
| 11 | g.116830621G>T | CA477048357 | APOC3 | c.39G>T (p.Ala13=) c.93G>T (p.Ala31=) n.71G>T | |
| 11 | g.116830622C>A | CA382709649 | APOC3 | c.40C>A (p.Leu14Ile) c.94C>A (p.Leu32Ile) n.72C>A | |
| 11 | g.116830622C= | CA2002758808 | APOC3 | c.40C= (p.Leu14=) c.94C= (p.Leu32=) n.72C= | |
| 11 | g.116830622C>G | CA382709650 | APOC3 | c.40C>G (p.Leu14Val) c.94C>G (p.Leu32Val) n.72C>G | |
| 11 | g.116830622C>T | CA6289617 | APOC3 | c.40C>T (p.Leu14Phe) c.94C>T (p.Leu32Phe) n.72C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.116830623T>A | CA382709658 | APOC3 | c.41T>A (p.Leu14His) c.95T>A (p.Leu32His) n.73T>A | |
| 11 | g.116830623T>C | CA382709656 | APOC3 | c.41T>C (p.Leu14Pro) c.95T>C (p.Leu32Pro) n.73T>C | |
| 11 | g.116830623T>G | CA382709653 | APOC3 | c.41T>G (p.Leu14Arg) c.95T>G (p.Leu32Arg) n.73T>G | |
| 11 | g.116830624C>A | CA477048358 | APOC3 | c.42C>A (p.Leu14=) c.96C>A (p.Leu32=) n.74C>A | |
| 11 | g.116830624C>G | CA477048359 | APOC3 | c.42C>G (p.Leu14=) c.96C>G (p.Leu32=) n.74C>G | |
| 11 | g.116830624C>T | CA477048360 | APOC3 | c.42C>T (p.Leu14=) c.96C>T (p.Leu32=) n.74C>T | |
| 11 | g.116830625C>A | CA382709660 | APOC3 | c.43C>A (p.Leu15Met) c.97C>A (p.Leu33Met) n.75C>A | dbSNP gnomAD v2 |
| 11 | g.116830625C= | CA2002758809 | APOC3 | c.43C= (p.Leu15=) c.97C= (p.Leu33=) n.75C= | |
| 11 | g.116830625C>G | CA382709662 | APOC3 | c.43C>G (p.Leu15Val) c.97C>G (p.Leu33Val) n.75C>G | |
| 11 | g.116830625C>T | CA477048361 | APOC3 | c.43C>T (p.Leu15=) c.97C>T (p.Leu33=) n.75C>T | gnomAD v4 |
| 11 | g.116830626T>A | CA382709664 | APOC3 | c.44T>A (p.Leu15Gln) c.98T>A (p.Leu33Gln) n.76T>A | |
| 11 | g.116830626T>C | CA382709666 | APOC3 | c.44T>C (p.Leu15Pro) c.98T>C (p.Leu33Pro) n.76T>C | gnomAD v4 |
| 11 | g.116830626T>G | CA382709668 | APOC3 | c.44T>G (p.Leu15Arg) c.98T>G (p.Leu33Arg) n.76T>G | dbSNP |
| 11 | g.116830626T= | CA2002758810 | APOC3 | c.44T= (p.Leu15=) c.98T= (p.Leu33=) n.76T= | |
| 11 | g.116830627G>A | CA477048364 | APOC3 | c.45G>A (p.Leu15=) c.99G>A (p.Leu33=) n.77G>A | |
| 11 | g.116830627G>C | CA477048363 | APOC3 | c.45G>C (p.Leu15=) c.99G>C (p.Leu33=) n.77G>C | |
| 11 | g.116830627G>T | CA477048362 | APOC3 | c.45G>T (p.Leu15=) c.99G>T (p.Leu33=) n.77G>T | |
| 11 | g.116830628del | CA2616110908 | APOC3 | c.46del (p.Ala16ProfsTer21) c.100del (p.Ala34ProfsTer21) n.78del | gnomAD v4 |
| 11 | g.116830628G>A | CA382709670 | APOC3 | c.46G>A (p.Ala16Thr) c.100G>A (p.Ala34Thr) n.78G>A | |
| 11 | g.116830628G>C | CA382709672 | APOC3 | c.46G>C (p.Ala16Pro) c.100G>C (p.Ala34Pro) n.78G>C | dbSNP gnomAD v4 |
| 11 | g.116830628G= | CA2002758811 | APOC3 | c.46G= (p.Ala16=) c.100G= (p.Ala34=) n.78G= | |
| 11 | g.116830628G>T | CA382709674 | APOC3 | c.46G>T (p.Ala16Ser) c.100G>T (p.Ala34Ser) n.78G>T | |
| 11 | g.116830629C>A | CA382709676 | APOC3 | c.47C>A (p.Ala16Asp) c.101C>A (p.Ala34Asp) n.79C>A | |
| 11 | g.116830629C>G | CA382709679 | APOC3 | c.47C>G (p.Ala16Gly) c.101C>G (p.Ala34Gly) n.79C>G | |
| 11 | g.116830629C>T | CA382709680 | APOC3 | c.47C>T (p.Ala16Val) c.101C>T (p.Ala34Val) n.79C>T | |
| 11 | g.116830630C>A | CA477048365 | APOC3 | c.48C>A (p.Ala16=) c.102C>A (p.Ala34=) n.80C>A | |
| 11 | g.116830630C= | CA2002758812 | APOC3 | c.48C= (p.Ala16=) c.102C= (p.Ala34=) n.80C= | |
| 11 | g.116830630C>G | CA477048366 | APOC3 | c.48C>G (p.Ala16=) c.102C>G (p.Ala34=) n.80C>G | |
| 11 | g.116830630C>T | CA6289618 | APOC3 | c.48C>T (p.Ala16=) c.102C>T (p.Ala34=) n.80C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116830631T>A | CA382709688 | APOC3 | c.49T>A (p.Ser17Thr) c.103T>A (p.Ser35Thr) n.81T>A | |
| 11 | g.116830631T>C | CA382709686 | APOC3 | c.49T>C (p.Ser17Pro) c.103T>C (p.Ser35Pro) n.81T>C | |
| 11 | g.116830631T>G | CA382709684 | APOC3 | c.49T>G (p.Ser17Ala) c.103T>G (p.Ser35Ala) n.81T>G | |
| 11 | g.116830632C>A | CA382709691 | APOC3 | c.50C>A (p.Ser17Tyr) c.104C>A (p.Ser35Tyr) n.82C>A | |
| 11 | g.116830632C>G | CA382709692 | APOC3 | c.50C>G (p.Ser17Cys) c.104C>G (p.Ser35Cys) n.82C>G | |
| 11 | g.116830632C>T | CA382709693 | APOC3 | c.50C>T (p.Ser17Phe) c.104C>T (p.Ser35Phe) n.82C>T | gnomAD v4 |
| 11 | g.116830633T>A | CA477048367 | APOC3 | c.51T>A (p.Ser17=) c.105T>A (p.Ser35=) n.83T>A | |
| 11 | g.116830633T>C | CA477048368 | APOC3 | c.51T>C (p.Ser17=) c.105T>C (p.Ser35=) n.83T>C | gnomAD v4 |
| 11 | g.116830633T>G | CA477048369 | APOC3 | c.51T>G (p.Ser17=) c.105T>G (p.Ser35=) n.83T>G | |
| 11 | g.116830634G>A | CA382709695 | APOC3 | c.52G>A (p.Ala18Thr) c.106G>A (p.Ala36Thr) n.84G>A | |
| 11 | g.116830634G>C | CA382709697 | APOC3 | c.52G>C (p.Ala18Pro) c.106G>C (p.Ala36Pro) n.84G>C | |
| 11 | g.116830634G>T | CA382709698 | APOC3 | c.52G>T (p.Ala18Ser) c.106G>T (p.Ala36Ser) n.84G>T | |
| 11 | g.116830635C>A | CA382709705 | APOC3 | c.53C>A (p.Ala18Asp) c.107C>A (p.Ala36Asp) n.85C>A | |
| 11 | g.116830635C= | CA2002758813 | APOC3 | c.53C= (p.Ala18=) c.107C= (p.Ala36=) n.85C= | |
| 11 | g.116830635C>G | CA382709701 | APOC3 | c.53C>G (p.Ala18Gly) c.107C>G (p.Ala36Gly) n.85C>G | |
| 11 | g.116830635C>T | CA382709703 | APOC3 | c.53C>T (p.Ala18Val) c.107C>T (p.Ala36Val) n.85C>T | dbSNP gnomAD v2 |
| 11 | g.116830636C>A | CA477048370 | APOC3 | c.54C>A (p.Ala18=) c.108C>A (p.Ala36=) n.86C>A | |
| 11 | g.116830636C>G | CA477048371 | APOC3 | c.54C>G (p.Ala18=) c.108C>G (p.Ala36=) n.86C>G | |
| 11 | g.116830636C>T | CA477048372 | APOC3 | c.54C>T (p.Ala18=) c.108C>T (p.Ala36=) n.86C>T | gnomAD v4 |
| 11 | g.116830637C>A | CA477048373 | APOC3 | c.55C>A (p.Arg19=) c.109C>A (p.Arg37=) n.87C>A | |
| 11 | g.116830637C= | CA2002758814 | APOC3 | c.55C= (p.Arg19=) c.109C= (p.Arg37=) n.87C= | |
| 11 | g.116830637C>G | CA6289619 | APOC3 | c.55C>G (p.Arg19Gly) c.109C>G (p.Arg37Gly) n.87C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116830637C>T | CA127531 | APOC3 | c.55C>T (p.Arg19Ter) c.109C>T (p.Arg37Ter) n.87C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116830638G>A | CA163265 | APOC3 | c.55+1G>A (n.55+1G>A) c.109+1G>A (n.109+1G>A) n.87+1G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.116830638G>C | CA382709710 | APOC3 | c.55+1G>C (n.55+1G>C) c.109+1G>C (n.109+1G>C) n.87+1G>C | |
| 11 | g.116830638G= | CA2002758815 | APOC3 | c.55+1G= (n.55+1G=) c.109+1G= (n.109+1G=) n.87+1G= | |
| 11 | g.116830638G>T | CA382709712 | APOC3 | c.55+1G>T (n.55+1G>T) c.109+1G>T (n.109+1G>T) n.87+1G>T | gnomAD v4 |
| 11 | g.116830639T>A | CA382709713 | APOC3 | c.55+2T>A (n.55+2T>A) c.109+2T>A (n.109+2T>A) n.87+2T>A | |
| 11 | g.116830639T>C | CA382709717 | APOC3 | c.55+2T>C (n.55+2T>C) c.109+2T>C (n.109+2T>C) n.87+2T>C | |
| 11 | g.116830639T>G | CA382709715 | APOC3 | c.55+2T>G (n.55+2T>G) c.109+2T>G (n.109+2T>G) n.87+2T>G | |
| 11 | g.116830641A>G | CA2616110909 | APOC3 | c.55+4A>G (n.55+4A>G) c.109+4A>G (n.109+4A>G) n.87+4A>G | gnomAD v4 |
| 11 | g.116830642G>A | CA2574986550 | APOC3 | c.55+5G>A (n.55+5G>A) c.109+5G>A (n.109+5G>A) n.87+5G>A | |
| 11 | g.116830645C= | CA2002758816 | APOC3 | c.55+8C= (n.55+8C=) c.109+8C= (n.109+8C=) n.87+8C= | |
| 11 | g.116830645C>G | CA2002758817 | APOC3 | c.55+8C>G (n.55+8C>G) c.109+8C>G (n.109+8C>G) n.87+8C>G | dbSNP gnomAD v4 |
| 11 | g.116830646T>C | CA2616110910 | APOC3 | c.55+9T>C (n.55+9T>C) c.109+9T>C (n.109+9T>C) n.87+9T>C | gnomAD v4 |