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.116836297G>A | CA6289826 | APOA1,APOA1-AS | c.315C>T (p.Gly105=) c.249C>T (p.Gly83=) n.123+58G>A c.-13C>T (n.-13C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.116836297G>C | CA477049197 | APOA1,APOA1-AS | c.315C>G (p.Gly105=) c.249C>G (p.Gly83=) n.123+58G>C c.-13C>G (n.-13C>G) | |
| 11 | g.116836297G= | CA2002762006 | APOA1,APOA1-AS | c.315C= (p.Gly105=) c.249C= (p.Gly83=) n.123+58G= c.-13C= (n.-13C=) | |
| 11 | g.116836297G>T | CA477049200 | APOA1,APOA1-AS | c.315C>A (p.Gly105=) c.249C>A (p.Gly83=) n.123+58G>T c.-13C>A (n.-13C>A) | COSMIC |
| 11 | g.116836297_116836298del | CA2793765526 | APOA1,APOA1-AS | c.314_315del (p.Gly105AlafsTer?) c.248_249del (p.Gly83AlafsTer?) n.123+58_123+59del c.-14_-13del (n.-14_-13del) | |
| 11 | g.116836298C>A | CA382716789 | APOA1,APOA1-AS | c.314G>T (p.Gly105Val) c.248G>T (p.Gly83Val) n.123+59C>A c.-14G>T (n.-14G>T) | |
| 11 | g.116836298C= | CA2002762007 | APOA1,APOA1-AS | c.314G= (p.Gly105=) c.248G= (p.Gly83=) n.123+59C= c.-14G= (n.-14G=) | |
| 11 | g.116836298C>G | CA382716791 | APOA1,APOA1-AS | c.314G>C (p.Gly105Ala) c.248G>C (p.Gly83Ala) n.123+59C>G c.-14G>C (n.-14G>C) | |
| 11 | g.116836298C>T | CA382716793 | APOA1,APOA1-AS | c.314G>A (p.Gly105Asp) c.248G>A (p.Gly83Asp) n.123+59C>T c.-14G>A (n.-14G>A) | dbSNP |
| 11 | g.116836299C>A | CA382716794 | APOA1,APOA1-AS | c.313G>T (p.Gly105Cys) c.247G>T (p.Gly83Cys) n.123+60C>A c.-15G>T (n.-15G>T) | COSMIC |
| 11 | g.116836299C>G | CA382716796 | APOA1,APOA1-AS | c.313G>C (p.Gly105Arg) c.247G>C (p.Gly83Arg) n.123+60C>G c.-15G>C (n.-15G>C) | |
| 11 | g.116836299C>T | CA382716798 | APOA1,APOA1-AS | c.313G>A (p.Gly105Ser) c.247G>A (p.Gly83Ser) n.123+60C>T c.-15G>A (n.-15G>A) | |
| 11 | g.116836299_116836300insGA | CA2793765527 | APOA1,APOA1-AS | c.312_313insTC (p.Gly105SerfsTer3) c.246_247insTC (p.Gly83SerfsTer3) n.123+60_123+61insGA c.-16_-15insTC (n.-16_-15insTC) | |
| 11 | g.116836300C>A | CA6289827 | APOA1,APOA1-AS | c.312G>T (p.Glu104Asp) c.246G>T (p.Glu82Asp) n.123+61C>A c.-16G>T (n.-16G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116836300C= | CA2002762008 | APOA1,APOA1-AS | c.312G= (p.Glu104=) c.246G= (p.Glu82=) n.123+61C= c.-16G= (n.-16G=) | |
| 11 | g.116836300C>G | CA382716801 | APOA1,APOA1-AS | c.312G>C (p.Glu104Asp) c.246G>C (p.Glu82Asp) n.123+61C>G c.-16G>C (n.-16G>C) | |
| 11 | g.116836300C>T | CA477049219 | APOA1,APOA1-AS | c.312G>A (p.Glu104=) c.246G>A (p.Glu82=) n.123+61C>T c.-16G>A (n.-16G>A) | |
| 11 | g.116836302_116836303del | CA2575000172 | APOA1,APOA1-AS | c.311_312del (p.Glu104GlyfsTer?) c.245_246del (p.Glu82GlyfsTer?) n.123+63_123+64del c.-17_-16del (n.-17_-16del) | |
| 11 | g.116836301T>A | CA382716805 | APOA1,APOA1-AS | c.311A>T (p.Glu104Val) c.245A>T (p.Glu82Val) n.123+62T>A c.-17A>T (n.-17A>T) | |
| 11 | g.116836301T>C | CA382716807 | APOA1,APOA1-AS | c.311A>G (p.Glu104Gly) c.245A>G (p.Glu82Gly) n.123+62T>C c.-17A>G (n.-17A>G) | |
| 11 | g.116836301T>G | CA382716803 | APOA1,APOA1-AS | c.311A>C (p.Glu104Ala) c.245A>C (p.Glu82Ala) n.123+62T>G c.-17A>C (n.-17A>C) | |
| 11 | g.116836302C>A | CA382716810 | APOA1,APOA1-AS | c.310G>T (p.Glu104Ter) c.244G>T (p.Glu82Ter) n.123+63C>A c.-18G>T (n.-18G>T) | |
| 11 | g.116836302C= | CA2002762009 | APOA1,APOA1-AS | c.310G= (p.Glu104=) c.244G= (p.Glu82=) n.123+63C= c.-18G= (n.-18G=) | |
| 11 | g.116836302C>G | CA382716814 | APOA1,APOA1-AS | c.310G>C (p.Glu104Gln) c.244G>C (p.Glu82Gln) n.123+63C>G c.-18G>C (n.-18G>C) | |
| 11 | g.116836302C>T | CA6289828 | APOA1,APOA1-AS | c.310G>A (p.Glu104Lys) c.244G>A (p.Glu82Lys) n.123+63C>T c.-18G>A (n.-18G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116836303T>A | CA477049239 | APOA1,APOA1-AS | c.309A>T (p.Thr103=) c.243A>T (p.Thr81=) n.123+64T>A c.-19A>T (n.-19A>T) | |
| 11 | g.116836303T>C | CA477049240 | APOA1,APOA1-AS | c.309A>G (p.Thr103=) c.243A>G (p.Thr81=) n.123+64T>C c.-19A>G (n.-19A>G) | |
| 11 | g.116836303T>G | CA477049241 | APOA1,APOA1-AS | c.309A>C (p.Thr103=) c.243A>C (p.Thr81=) n.123+64T>G c.-19A>C (n.-19A>C) | |
| 11 | g.116836304G>A | CA382716817 | APOA1,APOA1-AS | c.308C>T (p.Thr103Ile) c.242C>T (p.Thr81Ile) n.123+65G>A c.-20C>T (n.-20C>T) | ClinVar dbSNP gnomAD v4 |
| 11 | g.116836304G>C | CA382716819 | APOA1,APOA1-AS | c.308C>G (p.Thr103Arg) c.242C>G (p.Thr81Arg) n.123+65G>C c.-20C>G (n.-20C>G) | |
| 11 | g.116836304G= | CA2002762010 | APOA1,APOA1-AS | c.308C= (p.Thr103=) c.242C= (p.Thr81=) n.123+65G= c.-20C= (n.-20C=) | |
| 11 | g.116836304G>T | CA382716821 | APOA1,APOA1-AS | c.308C>A (p.Thr103Lys) c.242C>A (p.Thr81Lys) n.123+65G>T c.-20C>A (n.-20C>A) | |
| 11 | g.116836305T>A | CA382716827 | APOA1,APOA1-AS | c.307A>T (p.Thr103Ser) c.241A>T (p.Thr81Ser) n.123+66T>A c.-21A>T (n.-21A>T) | |
| 11 | g.116836305T>C | CA382716823 | APOA1,APOA1-AS | c.307A>G (p.Thr103Ala) c.241A>G (p.Thr81Ala) n.123+66T>C c.-21A>G (n.-21A>G) | |
| 11 | g.116836305T>G | CA382716825 | APOA1,APOA1-AS | c.307A>C (p.Thr103Pro) c.241A>C (p.Thr81Pro) n.123+66T>G c.-21A>C (n.-21A>C) | |
| 11 | g.116836306C>A | CA382716829 | APOA1,APOA1-AS | c.306G>T (p.Glu102Asp) c.240G>T (p.Glu80Asp) n.123+67C>A c.-22G>T (n.-22G>T) | gnomAD v4 |
| 11 | g.116836306C= | CA2002762011 | APOA1,APOA1-AS | c.306G= (p.Glu102=) c.240G= (p.Glu80=) n.123+67C= c.-22G= (n.-22G=) | |
| 11 | g.116836306C>G | CA382716831 | APOA1,APOA1-AS | c.306G>C (p.Glu102Asp) c.240G>C (p.Glu80Asp) n.123+67C>G c.-22G>C (n.-22G>C) | |
| 11 | g.116836306C>T | CA477049251 | APOA1,APOA1-AS | c.306G>A (p.Glu102=) c.240G>A (p.Glu80=) n.123+67C>T c.-22G>A (n.-22G>A) | dbSNP |
| 11 | g.116836307T>A | CA382716833 | APOA1,APOA1-AS | c.305A>T (p.Glu102Val) c.239A>T (p.Glu80Val) n.123+68T>A c.-23A>T (n.-23A>T) | |
| 11 | g.116836307T>C | CA382716834 | APOA1,APOA1-AS | c.305A>G (p.Glu102Gly) c.239A>G (p.Glu80Gly) n.123+68T>C c.-23A>G (n.-23A>G) | |
| 11 | g.116836307T>G | CA382716835 | APOA1,APOA1-AS | c.305A>C (p.Glu102Ala) c.239A>C (p.Glu80Ala) n.123+68T>G c.-23A>C (n.-23A>C) | |
| 11 | g.116836308C>A | CA382716843 | APOA1,APOA1-AS | c.304G>T (p.Glu102Ter) c.238G>T (p.Glu80Ter) n.123+69C>A c.-24G>T (n.-24G>T) | |
| 11 | g.116836308C>G | CA382716838 | APOA1,APOA1-AS | c.304G>C (p.Glu102Gln) c.238G>C (p.Glu80Gln) n.123+69C>G c.-24G>C (n.-24G>C) | |
| 11 | g.116836308C>T | CA382716842 | APOA1,APOA1-AS | c.304G>A (p.Glu102Lys) c.238G>A (p.Glu80Lys) n.123+69C>T c.-24G>A (n.-24G>A) | |
| 11 | g.116836309C>A | CA382716846 | APOA1,APOA1-AS | c.303G>T (p.Lys101Asn) c.237G>T (p.Lys79Asn) n.123+70C>A c.-25G>T (n.-25G>T) | |
| 11 | g.116836309C>G | CA382716847 | APOA1,APOA1-AS | c.303G>C (p.Lys101Asn) c.237G>C (p.Lys79Asn) n.123+70C>G c.-25G>C (n.-25G>C) | |
| 11 | g.116836309C>T | CA477049259 | APOA1,APOA1-AS | c.303G>A (p.Lys101=) c.237G>A (p.Lys79=) n.123+70C>T c.-25G>A (n.-25G>A) | ClinVar |
| 11 | g.116836310T>A | CA382716849 | APOA1,APOA1-AS | c.302A>T (p.Lys101Met) c.236A>T (p.Lys79Met) n.123+71T>A c.-26A>T (n.-26A>T) |