| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.10658612G>A | CA254222 | JAG1 | c.550C>T (p.Arg184Cys) n.416C>T | ClinVar dbSNP gnomAD v4 |
| 20 | g.10658612G>C | CA408240305 | JAG1 | c.550C>G (p.Arg184Gly) n.416C>G | |
| 20 | g.10658612G= | CA2349888423 | JAG1 | c.550C= (p.Arg184=) n.416C= | |
| 20 | g.10658612G>T | CA408240303 | JAG1 | c.550C>A (p.Arg184Ser) n.416C>A | |
| 20 | g.10658613G>A | CA509816574 | JAG1 | c.549C>T (p.Ile183=) n.415C>T | |
| 20 | g.10658613G>C | CA408240307 | JAG1 | c.549C>G (p.Ile183Met) n.415C>G | |
| 20 | g.10658613G>T | CA509816575 | JAG1 | c.549C>A (p.Ile183=) n.415C>A | gnomAD v4 |
| 20 | g.10658614A>C | CA408240309 | JAG1 | c.548T>G (p.Ile183Ser) n.414T>G | |
| 20 | g.10658614A>G | CA408240310 | JAG1 | c.548T>C (p.Ile183Thr) n.414T>C | |
| 20 | g.10658614A>T | CA408240311 | JAG1 | c.548T>A (p.Ile183Asn) n.414T>A | |
| 20 | g.10658615T>A | CA311351526 | JAG1 | c.547A>T (p.Ile183Phe) n.413A>T | dbSNP |
| 20 | g.10658615T>C | CA408240312 | JAG1 | c.547A>G (p.Ile183Val) n.413A>G | |
| 20 | g.10658615T>G | CA408240313 | JAG1 | c.547A>C (p.Ile183Leu) n.413A>C | |
| 20 | g.10658615T= | CA2349888424 | JAG1 | c.547A= (p.Ile183=) n.413A= | |
| 20 | g.10658616C>A | CA408240315 | JAG1 | c.546G>T (p.Gln182His) n.412G>T | |
| 20 | g.10658616C>G | CA408240317 | JAG1 | c.546G>C (p.Gln182His) n.412G>C | ClinVar dbSNP |
| 20 | g.10658616C>T | CA509816576 | JAG1 | c.546G>A (p.Gln182=) n.412G>A | |
| 20 | g.10658617T>A | CA408240319 | JAG1 | c.545A>T (p.Gln182Leu) n.411A>T | gnomAD v4 |
| 20 | g.10658617T>C | CA408240320 | JAG1 | c.545A>G (p.Gln182Arg) n.411A>G | ClinVar |
| 20 | g.10658617T>G | CA408240322 | JAG1 | c.545A>C (p.Gln182Pro) n.411A>C | |
| 20 | g.10658618G>A | CA320391 | JAG1 | c.544C>T (p.Gln182Ter) n.410C>T | ClinVar dbSNP COSMIC COSMIC |
| 20 | g.10658618G>C | CA408240324 | JAG1 | c.544C>G (p.Gln182Glu) n.410C>G | |
| 20 | g.10658618G= | CA2349888425 | JAG1 | c.544C= (p.Gln182=) n.410C= | |
| 20 | g.10658618G>T | CA408240325 | JAG1 | c.544C>A (p.Gln182Lys) n.410C>A | |
| 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 |