Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.44908588del | CA294543 | APOE | c.292del (p.Glu98AsnfsTer3) c.370del (p.Glu124AsnfsTer3) | ClinVar dbSNP |
19 | g.44908588G>A | CA406303739 | APOE | c.292G>A (p.Glu98Lys) c.370G>A (p.Glu124Lys) | dbSNP gnomAD v2 |
19 | g.44908588G>C | CA406303741 | APOE | c.292G>C (p.Glu98Gln) c.370G>C (p.Glu124Gln) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.44908588G= | CA2338167858 | APOE | c.292G= (p.Glu98=) c.370G= (p.Glu124=) | |
19 | g.44908588G>T | CA406303740 | APOE | c.292G>T (p.Glu98Ter) c.370G>T (p.Glu124Ter) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.44908589A>C | CA406303742 | APOE | c.293A>C (p.Glu98Ala) c.371A>C (p.Glu124Ala) | |
19 | g.44908589A>G | CA406303743 | APOE | c.293A>G (p.Glu98Gly) c.371A>G (p.Glu124Gly) | |
19 | g.44908589A>T | CA406303744 | APOE | c.293A>T (p.Glu98Val) c.371A>T (p.Glu124Val) | |
19 | g.44908590A>C | CA406303745 | APOE | c.294A>C (p.Glu98Asp) c.372A>C (p.Glu124Asp) | |
19 | g.44908590A>G | CA507947295 | APOE | c.294A>G (p.Glu98=) c.372A>G (p.Glu124=) | |
19 | g.44908590A>T | CA406303746 | APOE | c.294A>T (p.Glu98Asp) c.372A>T (p.Glu124Asp) | |
19 | g.44908591C>A | CA406303747 | APOE | c.295C>A (p.Gln99Lys) c.373C>A (p.Gln125Lys) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44908591C= | CA2338167859 | APOE | c.295C= (p.Gln99=) c.373C= (p.Gln125=) | |
19 | g.44908591C>G | CA406303748 | APOE | c.295C>G (p.Gln99Glu) c.373C>G (p.Gln125Glu) | |
19 | g.44908591C>T | CA406303749 | APOE | c.295C>T (p.Gln99Ter) c.373C>T (p.Gln125Ter) | |
19 | g.44908592A= | CA2338167860 | APOE | c.296A= (p.Gln99=) c.374A= (p.Gln125=) | |
19 | g.44908592A>C | CA406303750 | APOE | c.296A>C (p.Gln99Pro) c.374A>C (p.Gln125Pro) | |
19 | g.44908592A>G | CA9506033 | APOE | c.296A>G (p.Gln99Arg) c.374A>G (p.Gln125Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44908592A>T | CA406303751 | APOE | c.296A>T (p.Gln99Leu) c.374A>T (p.Gln125Leu) | |
19 | g.44908593A>C | CA406303752 | APOE | c.297A>C (p.Gln99His) c.375A>C (p.Gln125His) | gnomAD v4 |
19 | g.44908593A>G | CA507947372 | APOE | c.297A>G (p.Gln99=) c.375A>G (p.Gln125=) | gnomAD v4 |
19 | g.44908593A>T | CA406303753 | APOE | c.297A>T (p.Gln99His) c.375A>T (p.Gln125His) | |
19 | g.44908594C>A | CA406303754 | APOE | c.298C>A (p.Leu100Met) c.376C>A (p.Leu126Met) | |
19 | g.44908594C>G | CA406303755 | APOE | c.298C>G (p.Leu100Val) c.376C>G (p.Leu126Val) | |
19 | g.44908594C>T | CA507947381 | APOE | c.298C>T (p.Leu100=) c.376C>T (p.Leu126=) | |
19 | g.44908595T>A | CA406303756 | APOE | c.299T>A (p.Leu100Gln) c.377T>A (p.Leu126Gln) | |
19 | g.44908595T>C | CA406303758 | APOE | c.299T>C (p.Leu100Pro) c.377T>C (p.Leu126Pro) | |
19 | g.44908595T>G | CA406303757 | APOE | c.299T>G (p.Leu100Arg) c.377T>G (p.Leu126Arg) | |
19 | g.44908596G>A | CA308885267 | APOE | c.300G>A (p.Leu100=) c.378G>A (p.Leu126=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44908596G>C | CA507947384 | APOE | c.300G>C (p.Leu100=) c.378G>C (p.Leu126=) | |
19 | g.44908596G= | CA2338167861 | APOE | c.300G= (p.Leu100=) c.378G= (p.Leu126=) | |
19 | g.44908596G>T | CA507947385 | APOE | c.300G>T (p.Leu100=) c.378G>T (p.Leu126=) | |
19 | g.44908597A>C | CA406303759 | APOE | c.301A>C (p.Thr101Pro) c.379A>C (p.Thr127Pro) | |
19 | g.44908597A>G | CA406303760 | APOE | c.301A>G (p.Thr101Ala) c.379A>G (p.Thr127Ala) | |
19 | g.44908597A>T | CA406303761 | APOE | c.301A>T (p.Thr101Ser) c.379A>T (p.Thr127Ser) | |
19 | g.44908598C>A | CA406303762 | APOE | c.302C>A (p.Thr101Asn) c.380C>A (p.Thr127Asn) | |
19 | g.44908598C= | CA2338167862 | APOE | c.302C= (p.Thr101=) c.380C= (p.Thr127=) | |
19 | g.44908598C>G | CA406303763 | APOE | c.302C>G (p.Thr101Ser) c.380C>G (p.Thr127Ser) | |
19 | g.44908598C>T | CA406303764 | APOE | c.302C>T (p.Thr101Ile) c.380C>T (p.Thr127Ile) | dbSNP |
19 | g.44908599C>A | CA507947388 | APOE | c.303C>A (p.Thr101=) c.381C>A (p.Thr127=) | |
19 | g.44908599C= | CA2338167385 | APOE | c.303C= (p.Thr101=) c.381C= (p.Thr127=) | |
19 | g.44908599C>G | CA507947387 | APOE | c.303C>G (p.Thr101=) c.381C>G (p.Thr127=) | |
19 | g.44908599C>T | CA507947389 | APOE | c.303C>T (p.Thr101=) c.381C>T (p.Thr127=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44908600C>A | CA308885268 | APOE | c.304C>A (p.Pro102Thr) c.382C>A (p.Pro128Thr) | dbSNP gnomAD v4 |
19 | g.44908600C= | CA2338167389 | APOE | c.304C= (p.Pro102=) c.382C= (p.Pro128=) | |
19 | g.44908600C>G | CA406303765 | APOE | c.304C>G (p.Pro102Ala) c.382C>G (p.Pro128Ala) | |
19 | g.44908600C>T | CA406303766 | APOE | c.304C>T (p.Pro102Ser) c.382C>T (p.Pro128Ser) | |
19 | g.44908601C>A | CA308885274 | APOE | c.305C>A (p.Pro102Gln) c.383C>A (p.Pro128Gln) | dbSNP |
19 | g.44908601C= | CA2338167393 | APOE | c.305C= (p.Pro102=) c.383C= (p.Pro128=) | |
19 | g.44908601C>G | CA042073 | APOE | c.305C>G (p.Pro102Arg) c.383C>G (p.Pro128Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |