| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.44908817_44908870del | CA2695228866 | APOE | c.521_574del (p.Gln174_Gly191del) c.599_652del (p.Gln200_Gly217del) | |
| 19 | g.44908833G>A | CA507947895 | APOE | c.537G>A (p.Val179=) c.615G>A (p.Val205=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908833G>C | CA507947896 | APOE | c.537G>C (p.Val179=) c.615G>C (p.Val205=) | |
| 19 | g.44908833G= | CA2338167910 | APOE | c.537G= (p.Val179=) c.615G= (p.Val205=) | |
| 19 | g.44908833G>T | CA507947897 | APOE | c.537G>T (p.Val179=) c.615G>T (p.Val205=) | |
| 19 | g.44908834T>A | CA406304211 | APOE | c.538T>A (p.Tyr180Asn) c.616T>A (p.Tyr206Asn) | gnomAD v4 |
| 19 | g.44908834T>C | CA9506076 | APOE | c.538T>C (p.Tyr180His) c.616T>C (p.Tyr206His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.44908834T>G | CA406304212 | APOE | c.538T>G (p.Tyr180Asp) c.616T>G (p.Tyr206Asp) | dbSNP |
| 19 | g.44908834T= | CA2338167911 | APOE | c.538T= (p.Tyr180=) c.616T= (p.Tyr206=) | |
| 19 | g.44908835A>C | CA406304213 | APOE | c.539A>C (p.Tyr180Ser) c.617A>C (p.Tyr206Ser) | |
| 19 | g.44908835A>G | CA406304214 | APOE | c.539A>G (p.Tyr180Cys) c.617A>G (p.Tyr206Cys) | |
| 19 | g.44908835A>T | CA406304215 | APOE | c.539A>T (p.Tyr180Phe) c.617A>T (p.Tyr206Phe) | |
| 19 | g.44908836C>A | CA406304216 | APOE | c.540C>A (p.Tyr180Ter) c.618C>A (p.Tyr206Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908836C= | CA2338167912 | APOE | c.540C= (p.Tyr180=) c.618C= (p.Tyr206=) | |
| 19 | g.44908836C>G | CA406304217 | APOE | c.540C>G (p.Tyr180Ter) c.618C>G (p.Tyr206Ter) | |
| 19 | g.44908836C>T | CA507947901 | APOE | c.540C>T (p.Tyr180=) c.618C>T (p.Tyr206=) | gnomAD v4 |
| 19 | g.44908837del | CA2585715443 | APOE | c.541del (p.Gln181ArgfsTer?) c.619del (p.Gln207ArgfsTer?) | gnomAD v4 |
| 19 | g.44908837C>A | CA406304218 | APOE | c.541C>A (p.Gln181Lys) c.619C>A (p.Gln207Lys) | dbSNP gnomAD v4 |
| 19 | g.44908837C= | CA2338167913 | APOE | c.541C= (p.Gln181=) c.619C= (p.Gln207=) | |
| 19 | g.44908837C>G | CA406304219 | APOE | c.541C>G (p.Gln181Glu) c.619C>G (p.Gln207Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908837C>T | CA406304220 | APOE | c.541C>T (p.Gln181Ter) c.619C>T (p.Gln207Ter) | gnomAD v4 |
| 19 | g.44908838A= | CA2740130015 | APOE | c.542A= (p.Gln181=) c.620A= (p.Gln207=) | |
| 19 | g.44908838A>C | CA406304221 | APOE | c.542A>C (p.Gln181Pro) c.620A>C (p.Gln207Pro) | |
| 19 | g.44908838A>G | CA406304222 | APOE | c.542A>G (p.Gln181Arg) c.620A>G (p.Gln207Arg) | gnomAD v4 |
| 19 | g.44908838A>T | CA406304223 | APOE | c.542A>T (p.Gln181Leu) c.620A>T (p.Gln207Leu) | ClinVar |
| 19 | g.44908839G>A | CA507947906 | APOE | c.543G>A (p.Gln181=) c.621G>A (p.Gln207=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908839G>C | CA406304224 | APOE | c.543G>C (p.Gln181His) c.621G>C (p.Gln207His) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908839G= | CA2338167914 | APOE | c.543G= (p.Gln181=) c.621G= (p.Gln207=) | |
| 19 | g.44908839G>T | CA9506077 | APOE | c.543G>T (p.Gln181His) c.621G>T (p.Gln207His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908840G>A | CA406304225 | APOE | c.544G>A (p.Ala182Thr) c.622G>A (p.Ala208Thr) | gnomAD v4 |
| 19 | g.44908840G>C | CA308885811 | APOE | c.544G>C (p.Ala182Pro) c.622G>C (p.Ala208Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44908840G= | CA2338167915 | APOE | c.544G= (p.Ala182=) c.622G= (p.Ala208=) | |
| 19 | g.44908840G>T | CA308885815 | APOE | c.544G>T (p.Ala182Ser) c.622G>T (p.Ala208Ser) | dbSNP gnomAD v4 COSMIC |
| 19 | g.44908840_44908841delinsGC | CA2338167916 | APOE | c.544_545delinsGC (p.Ala182=) c.622_623delinsGC (p.Ala208=) | |
| 19 | g.44908841C>A | CA406304226 | APOE | c.545C>A (p.Ala182Asp) c.623C>A (p.Ala208Asp) | gnomAD v4 |
| 19 | g.44908841C>G | CA406304227 | APOE | c.545C>G (p.Ala182Gly) c.623C>G (p.Ala208Gly) | |
| 19 | g.44908841C>T | CA406304228 | APOE | c.545C>T (p.Ala182Val) c.623C>T (p.Ala208Val) | dbSNP gnomAD v4 |
| 19 | g.44908842del | CA882664255 | APOE | c.546del (p.Ala184ProfsTer?) c.624del (p.Ala210ProfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44908842C>A | CA507947912 | APOE | c.546C>A (p.Ala182=) c.624C>A (p.Ala208=) | dbSNP gnomAD v4 |
| 19 | g.44908842C= | CA2338167917 | APOE | c.546C= (p.Ala182=) c.624C= (p.Ala208=) | |
| 19 | g.44908842C>G | CA507947913 | APOE | c.546C>G (p.Ala182=) c.624C>G (p.Ala208=) | |
| 19 | g.44908842C>T | CA507947914 | APOE | c.546C>T (p.Ala182=) c.624C>T (p.Ala208=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908842_44908843insAGT | CA2585715444 | APOE | c.546_547insAGT (p.Ala182_Gly183insSer) c.624_625insAGT (p.Ala208_Gly209insSer) | gnomAD v4 |
| 19 | g.44908843G>A | CA406304229 | APOE | c.547G>A (p.Gly183Arg) c.625G>A (p.Gly209Arg) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.44908843G>C | CA406304230 | APOE | c.547G>C (p.Gly183Arg) c.625G>C (p.Gly209Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908843G= | CA2338167918 | APOE | c.547G= (p.Gly183=) c.625G= (p.Gly209=) | |
| 19 | g.44908843G>T | CA406304231 | APOE | c.547G>T (p.Gly183Trp) c.625G>T (p.Gly209Trp) | dbSNP gnomAD v4 |
| 19 | g.44908846del | CA2585715445 | APOE | c.550del (p.Ala184ProfsTer?) c.628del (p.Ala210ProfsTer?) | gnomAD v4 |
| 19 | g.44908844G>A | CA406304232 | APOE | c.548G>A (p.Gly183Glu) c.626G>A (p.Gly209Glu) | gnomAD v4 |
| 19 | g.44908844G>C | CA406304233 | APOE | c.548G>C (p.Gly183Ala) c.626G>C (p.Gly209Ala) | ClinVar dbSNP |