| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.44907894_44907914dup | CA2585715224 | APOE | c.178_198dup (p.Gln66_Glu67insThrLeuSerGluGlnValGln) c.256_276dup (p.Gln92_Glu93insThrLeuSerGluGlnValGln) | gnomAD v4 |
| 19 | g.44907893_44907894del | CA2585715225 | APOE | c.177_178del (p.Gln59HisfsTer4) c.255_256del (p.Gln85HisfsTer4) | gnomAD v4 |
| 19 | g.44907894A= | CA2338167373 | APOE | c.178A= (p.Thr60=) c.256A= (p.Thr86=) | |
| 19 | g.44907894A>C | CA406303470 | APOE | c.178A>C (p.Thr60Pro) c.256A>C (p.Thr86Pro) | |
| 19 | g.44907894A>G | CA127515 | APOE | c.178A>G (p.Thr60Ala) c.256A>G (p.Thr86Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44907894A>T | CA406303469 | APOE | c.178A>T (p.Thr60Ser) c.256A>T (p.Thr86Ser) | dbSNP |
| 19 | g.44907895C>A | CA406303473 | APOE | c.179C>A (p.Thr60Lys) c.257C>A (p.Thr86Lys) | |
| 19 | g.44907895C>G | CA406303471 | APOE | c.179C>G (p.Thr60Arg) c.257C>G (p.Thr86Arg) | |
| 19 | g.44907895C>T | CA406303472 | APOE | c.179C>T (p.Thr60Ile) c.257C>T (p.Thr86Ile) | gnomAD v4 |
| 19 | g.44907896del | CA2585715226 | APOE | c.180del (p.Leu61CysfsTer18) c.258del (p.Leu87CysfsTer18) | gnomAD v4 |
| 19 | g.44907896A= | CA2338167374 | APOE | c.180A= (p.Thr60=) c.258A= (p.Thr86=) | |
| 19 | g.44907896A>C | CA507799036 | APOE | c.180A>C (p.Thr60=) c.258A>C (p.Thr86=) | |
| 19 | g.44907896A>G | CA308884575 | APOE | c.180A>G (p.Thr60=) c.258A>G (p.Thr86=) | dbSNP gnomAD v4 |
| 19 | g.44907896A>T | CA507799037 | APOE | c.180A>T (p.Thr60=) c.258A>T (p.Thr86=) | |
| 19 | g.44907896_44907900delinsACTGT | CA2338167375 | APOE | c.180_184delinsACTGT (p.Thr60=) c.258_262delinsACTGT (p.Thr86=) | |
| 19 | g.44907897C>A | CA406303474 | APOE | c.181C>A (p.Leu61Met) c.259C>A (p.Leu87Met) | |
| 19 | g.44907897C>G | CA406303475 | APOE | c.181C>G (p.Leu61Val) c.259C>G (p.Leu87Val) | |
| 19 | g.44907897C>T | CA507799038 | APOE | c.181C>T (p.Leu61=) c.259C>T (p.Leu87=) | |
| 19 | g.44907900_44907903del | CA2338167376 | APOE | c.184_187del (p.Glu63ArgfsTer15) c.262_265del (p.Glu89ArgfsTer15) | dbSNP gnomAD v4 |
| 19 | g.44907898T>A | CA406303476 | APOE | c.182T>A (p.Leu61Gln) c.260T>A (p.Leu87Gln) | |
| 19 | g.44907898T>C | CA406303477 | APOE | c.182T>C (p.Leu61Pro) c.260T>C (p.Leu87Pro) | |
| 19 | g.44907898T>G | CA406303478 | APOE | c.182T>G (p.Leu61Arg) c.260T>G (p.Leu87Arg) | |
| 19 | g.44907899G>A | CA507799039 | APOE | c.183G>A (p.Leu61=) c.261G>A (p.Leu87=) | |
| 19 | g.44907899G>C | CA507799040 | APOE | c.183G>C (p.Leu61=) c.261G>C (p.Leu87=) | |
| 19 | g.44907899G= | CA2338167377 | APOE | c.183G= (p.Leu61=) c.261G= (p.Leu87=) | |
| 19 | g.44907899G>T | CA9505995 | APOE | c.183G>T (p.Leu61=) c.261G>T (p.Leu87=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44907900T>A | CA406303479 | APOE | c.184T>A (p.Ser62Thr) c.262T>A (p.Ser88Thr) | |
| 19 | g.44907900T>C | CA406303480 | APOE | c.184T>C (p.Ser62Pro) c.262T>C (p.Ser88Pro) | gnomAD v4 |
| 19 | g.44907900T>G | CA406303481 | APOE | c.184T>G (p.Ser62Ala) c.262T>G (p.Ser88Ala) | |
| 19 | g.44907901C>A | CA406303483 | APOE | c.185C>A (p.Ser62Tyr) c.263C>A (p.Ser88Tyr) | |
| 19 | g.44907901C>G | CA406303484 | APOE | c.185C>G (p.Ser62Cys) c.263C>G (p.Ser88Cys) | |
| 19 | g.44907901C>T | CA406303482 | APOE | c.185C>T (p.Ser62Phe) c.263C>T (p.Ser88Phe) | |
| 19 | g.44907902T>A | CA507799041 | APOE | c.186T>A (p.Ser62=) c.264T>A (p.Ser88=) | |
| 19 | g.44907902T>C | CA507799042 | APOE | c.186T>C (p.Ser62=) c.264T>C (p.Ser88=) | |
| 19 | g.44907902T>G | CA507799043 | APOE | c.186T>G (p.Ser62=) c.264T>G (p.Ser88=) | |
| 19 | g.44907903G>A | CA406303485 | APOE | c.187G>A (p.Glu63Lys) c.265G>A (p.Glu89Lys) | |
| 19 | g.44907903G>C | CA406303486 | APOE | c.187G>C (p.Glu63Gln) c.265G>C (p.Glu89Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44907903G= | CA2338167378 | APOE | c.187G= (p.Glu63=) c.265G= (p.Glu89=) | |
| 19 | g.44907903G>T | CA406303487 | APOE | c.187G>T (p.Glu63Ter) c.265G>T (p.Glu89Ter) | |
| 19 | g.44907904_44907905dup | CA2585715227 | APOE | c.188_189dup (p.Gln64SerfsTer16) c.266_267dup (p.Gln90SerfsTer16) | gnomAD v4 |
| 19 | g.44907904A>C | CA406303488 | APOE | c.188A>C (p.Glu63Ala) c.266A>C (p.Glu89Ala) | |
| 19 | g.44907904A>G | CA406303489 | APOE | c.188A>G (p.Glu63Gly) c.266A>G (p.Glu89Gly) | |
| 19 | g.44907904A>T | CA406303490 | APOE | c.188A>T (p.Glu63Val) c.266A>T (p.Glu89Val) | |
| 19 | g.44907905G>A | CA507799044 | APOE | c.189G>A (p.Glu63=) c.267G>A (p.Glu89=) | |
| 19 | g.44907905G>C | CA406303491 | APOE | c.189G>C (p.Glu63Asp) c.267G>C (p.Glu89Asp) | dbSNP |
| 19 | g.44907905G= | CA2338167379 | APOE | c.189G= (p.Glu63=) c.267G= (p.Glu89=) | |
| 19 | g.44907905G>T | CA406303492 | APOE | c.189G>T (p.Glu63Asp) c.267G>T (p.Glu89Asp) | |
| 19 | g.44907906C>A | CA406303493 | APOE | c.190C>A (p.Gln64Lys) c.268C>A (p.Gln90Lys) | |
| 19 | g.44907906C>G | CA406303494 | APOE | c.190C>G (p.Gln64Glu) c.268C>G (p.Gln90Glu) | |
| 19 | g.44907906C>T | CA406303495 | APOE | c.190C>T (p.Gln64Ter) c.268C>T (p.Gln90Ter) | ClinVar |