| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.10658619A= | CA2349888426 | JAG1 | c.543T= (p.Tyr181=) n.409T= | |
| 20 | g.10658619A>C | CA408240327 | JAG1 | c.543T>G (p.Tyr181Ter) n.409T>G | |
| 20 | g.10658619A>G | CA509816577 | JAG1 | c.543T>C (p.Tyr181=) n.409T>C | |
| 20 | g.10658619A>T | CA16616456 | JAG1 | c.543T>A (p.Tyr181Ter) n.409T>A | ClinVar dbSNP |
| 20 | g.10658620T>A | CA408240329 | JAG1 | c.542A>T (p.Tyr181Phe) n.408A>T | |
| 20 | g.10658620T>C | CA408240330 | JAG1 | c.542A>G (p.Tyr181Cys) n.408A>G | gnomAD v4 |
| 20 | g.10658620T>G | CA408240332 | JAG1 | c.542A>C (p.Tyr181Ser) n.408A>C | |
| 20 | g.10658621A>C | CA408240334 | JAG1 | c.541T>G (p.Tyr181Asp) n.407T>G | |
| 20 | g.10658621A>G | CA408240336 | JAG1 | c.541T>C (p.Tyr181His) n.407T>C | |
| 20 | g.10658621A>T | CA408240337 | JAG1 | c.541T>A (p.Tyr181Asn) n.407T>A | |
| 20 | g.10658622C>A | CA408240338 | JAG1 | c.540G>T (p.Glu180Asp) n.406G>T | |
| 20 | g.10658622C>G | CA408240340 | JAG1 | c.540G>C (p.Glu180Asp) n.406G>C | |
| 20 | g.10658622C>T | CA509816578 | JAG1 | c.540G>A (p.Glu180=) n.406G>A | |
| 20 | g.10658623T>A | CA408240342 | JAG1 | c.539A>T (p.Glu180Val) n.405A>T | |
| 20 | g.10658623T>C | CA408240343 | JAG1 | c.539A>G (p.Glu180Gly) n.405A>G | |
| 20 | g.10658623T>G | CA408240345 | JAG1 | c.539A>C (p.Glu180Ala) n.405A>C | |
| 20 | g.10658624C>A | CA408240346 | JAG1 | c.538G>T (p.Glu180Ter) n.404G>T | |
| 20 | g.10658624C= | CA2349888427 | JAG1 | c.538G= (p.Glu180=) n.404G= | |
| 20 | g.10658624C>G | CA408240348 | JAG1 | c.538G>C (p.Glu180Gln) n.404G>C | |
| 20 | g.10658624C>T | CA408240350 | JAG1 | c.538G>A (p.Glu180Lys) n.404G>A | |
| 20 | g.10658625A= | CA2349888428 | JAG1 | c.537T= (p.Phe179=) n.403T= | |
| 20 | g.10658625A>C | CA408240354 | JAG1 | c.537T>G (p.Phe179Leu) n.403T>G | |
| 20 | g.10658625A>G | CA509816579 | JAG1 | c.537T>C (p.Phe179=) n.403T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.10658625A>T | CA408240352 | JAG1 | c.537T>A (p.Phe179Leu) n.403T>A | |
| 20 | g.10658627dup | CA320746 | JAG1 | c.537dup (p.Glu180Ter) n.403dup | ClinVar dbSNP |
| 20 | g.10658626A>C | CA408240356 | JAG1 | c.536T>G (p.Phe179Cys) n.402T>G | |
| 20 | g.10658626A>G | CA408240357 | JAG1 | c.536T>C (p.Phe179Ser) n.402T>C | |
| 20 | g.10658626A>T | CA408240359 | JAG1 | c.536T>A (p.Phe179Tyr) n.402T>A | |
| 20 | g.10658627A>C | CA408240360 | JAG1 | c.535T>G (p.Phe179Val) n.401T>G | |
| 20 | g.10658627A>G | CA408240362 | JAG1 | c.535T>C (p.Phe179Leu) n.401T>C | |
| 20 | g.10658627A>T | CA408240363 | JAG1 | c.535T>A (p.Phe179Ile) n.401T>A | |
| 20 | g.10658628G>A | CA509816580 | JAG1 | c.534C>T (p.His178=) n.400C>T | |
| 20 | g.10658628G>C | CA408240364 | JAG1 | c.534C>G (p.His178Gln) n.400C>G | |
| 20 | g.10658628G>T | CA408240366 | JAG1 | c.534C>A (p.His178Gln) n.400C>A | |
| 20 | g.10658629T>A | CA408240368 | JAG1 | c.533A>T (p.His178Leu) n.399A>T | |
| 20 | g.10658629T>C | CA408240369 | JAG1 | c.533A>G (p.His178Arg) n.399A>G | |
| 20 | g.10658629T>G | CA408240371 | JAG1 | c.533A>C (p.His178Pro) n.399A>C | |
| 20 | g.10658629_10658630delinsTG | CA2349888429 | JAG1 | c.532_533delinsCA (p.His178=) n.398_399delinsCA | |
| 20 | g.10658630G>A | CA408240372 | JAG1 | c.532C>T (p.His178Tyr) n.398C>T | |
| 20 | g.10658630G>C | CA408240373 | JAG1 | c.532C>G (p.His178Asp) n.398C>G | |
| 20 | g.10658630G>T | CA408240375 | JAG1 | c.532C>A (p.His178Asn) n.398C>A | |
| 20 | g.10658632del | CA916083751 | JAG1 | c.532del (p.His178ThrfsTer8) n.398del | ClinVar dbSNP |
| 20 | g.10658631G>A | CA509816581 | JAG1 | c.531C>T (p.Ala177=) n.397C>T | dbSNP |
| 20 | g.10658631G>C | CA509816582 | JAG1 | c.531C>G (p.Ala177=) n.397C>G | |
| 20 | g.10658631G= | CA2349888430 | JAG1 | c.531C= (p.Ala177=) n.397C= | |
| 20 | g.10658631G>T | CA509816583 | JAG1 | c.531C>A (p.Ala177=) n.397C>A | |
| 20 | g.10658632G>A | CA408240380 | JAG1 | c.530C>T (p.Ala177Val) n.396C>T | |
| 20 | g.10658632G>C | CA408240379 | JAG1 | c.530C>G (p.Ala177Gly) n.396C>G | |
| 20 | g.10658632G>T | CA408240377 | JAG1 | c.530C>A (p.Ala177Asp) n.396C>A | |
| 20 | g.10658633C>A | CA408240382 | JAG1 | c.529G>T (p.Ala177Ser) n.395G>T |