UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 | |
| 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 | |
| 20 | g.10658633C>G | CA408240384 | JAG1 | c.529G>C (p.Ala177Pro) n.395G>C | |
| 20 | g.10658633C>T | CA408240385 | JAG1 | c.529G>A (p.Ala177Thr) n.395G>A | |
| 20 | g.10658634A= | CA2349888431 | JAG1 | c.528T= (p.Val176=) n.394T= | |
| 20 | g.10658634A>C | CA9765110 | JAG1 | c.528T>G (p.Val176=) n.394T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.10658634A>G | CA509816584 | JAG1 | c.528T>C (p.Val176=) n.394T>C | |
| 20 | g.10658634A>T | CA509816585 | JAG1 | c.528T>A (p.Val176=) n.394T>A | |
| 20 | g.10658635A= | CA2349888432 | JAG1 | c.527T= (p.Val176=) n.393T= | |
| 20 | g.10658635A>C | CA408240387 | JAG1 | c.527T>G (p.Val176Gly) n.393T>G | |
| 20 | g.10658635A>G | CA9765111 | JAG1 | c.527T>C (p.Val176Ala) n.393T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.10658635A>T | CA408240390 | JAG1 | c.527T>A (p.Val176Asp) n.393T>A | |
| 20 | g.10658636C>A | CA408240391 | JAG1 | c.526G>T (p.Val176Phe) n.392G>T | gnomAD v4 |
| 20 | g.10658636C= | CA2349888433 | JAG1 | c.526G= (p.Val176=) n.392G= | |
| 20 | g.10658636C>G | CA408240394 | JAG1 | c.526G>C (p.Val176Leu) n.392G>C | |
| 20 | g.10658636C>T | CA9765112 | JAG1 | c.526G>A (p.Val176Ile) n.392G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 20 | g.10658637G>A | CA9765113 | JAG1 | c.525C>T (p.Gly175=) n.391C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.10658637G>C | CA509816586 | JAG1 | c.525C>G (p.Gly175=) n.391C>G | |
| 20 | g.10658637G= | CA2349888434 | JAG1 | c.525C= (p.Gly175=) n.391C= | |
| 20 | g.10658637G>T | CA509816587 | JAG1 | c.525C>A (p.Gly175=) n.391C>A | |
| 20 | g.10658638C>A | CA408240396 | JAG1 | c.524G>T (p.Gly175Val) n.390G>T | ClinVar dbSNP |
| 20 | g.10658638C>G | CA408240397 | JAG1 | c.524G>C (p.Gly175Ala) n.390G>C | |
| 20 | g.10658638C>T | CA408240398 | JAG1 | c.524G>A (p.Gly175Asp) n.390G>A | |
| 20 | g.10658639C>A | CA408240403 | JAG1 | c.523G>T (p.Gly175Cys) n.389G>T | |
| 20 | g.10658639C>G | CA408240401 | JAG1 | c.523G>C (p.Gly175Arg) n.389G>C | |
| 20 | g.10658639C>T | CA408240402 | JAG1 | c.523G>A (p.Gly175Ser) n.389G>A | gnomAD v4 |
| 20 | g.10658640C>A | CA509816588 | JAG1 | c.522G>T (p.Thr174=) n.388G>T | |
| 20 | g.10658640C= | CA2349888435 | JAG1 | c.522G= (p.Thr174=) n.388G= | |
| 20 | g.10658640C>G | CA509816589 | JAG1 | c.522G>C (p.Thr174=) n.388G>C | ClinVar gnomAD v4 |
| 20 | g.10658640C>T | CA9765114 | JAG1 | c.522G>A (p.Thr174=) n.388G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.10658641G>A | CA9765115 | JAG1 | c.521C>T (p.Thr174Met) n.387C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.10658641G>C | CA408240407 | JAG1 | c.521C>G (p.Thr174Arg) n.387C>G | |
| 20 | g.10658641G= | CA2349888436 | JAG1 | c.521C= (p.Thr174=) n.387C= | |
| 20 | g.10658641G>T | CA408240408 | JAG1 | c.521C>A (p.Thr174Lys) n.387C>A | |
| 20 | g.10658641_10658644dup | CA2695229556 | JAG1 | c.518_521dup (p.Gly175HisfsTer7) n.384_387dup | |
| 20 | g.10658642T>A | CA408240410 | JAG1 | c.520A>T (p.Thr174Ser) n.386A>T | |
| 20 | g.10658642T>C | CA408240412 | JAG1 | c.520A>G (p.Thr174Ala) n.386A>G | |
| 20 | g.10658642T>G | CA408240413 | JAG1 | c.520A>C (p.Thr174Pro) n.386A>C | |
| 20 | g.10658643G>A | CA509816590 | JAG1 | c.519C>T (p.Asn173=) n.385C>T | dbSNP gnomAD v2 COSMIC COSMIC |
| 20 | g.10658643G>C | CA408240415 | JAG1 | c.519C>G (p.Asn173Lys) n.385C>G | |
| 20 | g.10658643G= | CA2349888437 | JAG1 | c.519C= (p.Asn173=) n.385C= | |
| 20 | g.10658643G>T | CA408240417 | JAG1 | c.519C>A (p.Asn173Lys) n.385C>A | |
| 20 | g.10658644T>A | CA408240418 | JAG1 | c.518A>T (p.Asn173Ile) n.384A>T | |
| 20 | g.10658644T>C | CA408240420 | JAG1 | c.518A>G (p.Asn173Ser) n.384A>G | |
| 20 | g.10658644T>G | CA408240421 | JAG1 | c.518A>C (p.Asn173Thr) n.384A>C | gnomAD v4 |
| 20 | g.10658645T>A | CA408240426 | JAG1 | c.517A>T (p.Asn173Tyr) n.383A>T | |
| 20 | g.10658645T>C | CA408240423 | JAG1 | c.517A>G (p.Asn173Asp) n.383A>G | |
| 20 | g.10658645T>G | CA408240425 | JAG1 | c.517A>C (p.Asn173His) n.383A>C | |
| 20 | g.10658646C>A | CA408240428 | JAG1 | c.516G>T (p.Gln172His) n.382G>T | |
| 20 | g.10658646C= | CA2349888438 | JAG1 | c.516G= (p.Gln172=) n.382G= | |
| 20 | g.10658646C>G | CA9765116 | JAG1 | c.516G>C (p.Gln172His) n.382G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.10658646C>T | CA509816591 | JAG1 | c.516G>A (p.Gln172=) n.382G>A | COSMIC COSMIC |
| 20 | g.10658647T>A | CA408240430 | JAG1 | c.515A>T (p.Gln172Leu) n.381A>T | |
| 20 | g.10658647T>C | CA408240431 | JAG1 | c.515A>G (p.Gln172Arg) n.381A>G | |
| 20 | g.10658647T>G | CA408240432 | JAG1 | c.515A>C (p.Gln172Pro) n.381A>C | |
| 20 | g.10658648G>A | CA408240433 | JAG1 | c.514C>T (p.Gln172Ter) n.380C>T | ClinVar |
| 20 | g.10658648G>C | CA408240435 | JAG1 | c.514C>G (p.Gln172Glu) n.380C>G | |
| 20 | g.10658648G>T | CA408240437 | JAG1 | c.514C>A (p.Gln172Lys) n.380C>A | |
| 20 | g.10658650_10658655del | CA645613328 | JAG1 | c.509_514del (p.Leu170_Lys171del) n.375_380del | COSMIC COSMIC |
| 20 | g.10658649C>A | CA408240438 | JAG1 | c.513G>T (p.Lys171Asn) n.379G>T | |
| 20 | g.10658649C= | CA2349888439 | JAG1 | c.513G= (p.Lys171=) n.379G= | |
| 20 | g.10658649C>G | CA408240439 | JAG1 | c.513G>C (p.Lys171Asn) n.379G>C | |
| 20 | g.10658649C>T | CA509816592 | JAG1 | c.513G>A (p.Lys171=) n.379G>A | ClinVar dbSNP |
| 20 | g.10658650T>A | CA408240442 | JAG1 | c.512A>T (p.Lys171Met) n.378A>T | |
| 20 | g.10658650T>C | CA408240443 | JAG1 | c.512A>G (p.Lys171Arg) n.378A>G | |
| 20 | g.10658650T>G | CA408240445 | JAG1 | c.512A>C (p.Lys171Thr) n.378A>C | |
| 20 | g.10658651T>A | CA408240450 | JAG1 | c.511A>T (p.Lys171Ter) n.377A>T | |
| 20 | g.10658651T>C | CA408240449 | JAG1 | c.511A>G (p.Lys171Glu) n.377A>G | |
| 20 | g.10658651T>G | CA408240447 | JAG1 | c.511A>C (p.Lys171Gln) n.377A>C | |
| 20 | g.10658652C>A | CA509816593 | JAG1 | c.510G>T (p.Leu170=) n.376G>T | |
| 20 | g.10658652C= | CA2349888440 | JAG1 | c.510G= (p.Leu170=) n.376G= | |
| 20 | g.10658652C>G | CA509816594 | JAG1 | c.510G>C (p.Leu170=) n.376G>C | |
| 20 | g.10658652C>T | CA509816595 | JAG1 | c.510G>A (p.Leu170=) n.376G>A | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.10658653del | CA2695229557 | JAG1 | c.509del (p.Leu170ArgfsTer16) n.375del | |
| 20 | g.10658653A>C | CA408240451 | JAG1 | c.509T>G (p.Leu170Arg) n.375T>G | |
| 20 | g.10658653A>G | CA408240453 | JAG1 | c.509T>C (p.Leu170Pro) n.375T>C | |
| 20 | g.10658653A>T | CA408240455 | JAG1 | c.509T>A (p.Leu170Gln) n.375T>A | |
| 20 | g.10658654G>A | CA509816596 | JAG1 | c.508C>T (p.Leu170=) n.374C>T | |
| 20 | g.10658654G>C | CA408240457 | JAG1 | c.508C>G (p.Leu170Val) n.374C>G | |
| 20 | g.10658654G>T | CA408240458 | JAG1 | c.508C>A (p.Leu170Met) n.374C>A | |
| 20 | g.10658655C>A | CA509816597 | JAG1 | c.507G>T (p.Thr169=) n.373G>T | gnomAD v4 |
| 20 | g.10658655C= | CA2349888441 | JAG1 | c.507G= (p.Thr169=) n.373G= | |
| 20 | g.10658655C>G | CA509816598 | JAG1 | c.507G>C (p.Thr169=) n.373G>C | |
| 20 | g.10658655C>T | CA311351541 | JAG1 | c.507G>A (p.Thr169=) n.373G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.10658656G>A | CA9765117 | JAG1 | c.506C>T (p.Thr169Met) n.372C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 20 | g.10658656G>C | CA408240461 | JAG1 | c.506C>G (p.Thr169Arg) n.372C>G | dbSNP |
| 20 | g.10658656G= | CA2349888442 | JAG1 | c.506C= (p.Thr169=) n.372C= | |
| 20 | g.10658656G>T | CA408240463 | JAG1 | c.506C>A (p.Thr169Lys) n.372C>A | |
| 20 | g.10658657T>A | CA408240464 | JAG1 | c.505A>T (p.Thr169Ser) n.371A>T | |
| 20 | g.10658657T>C | CA408240465 | JAG1 | c.505A>G (p.Thr169Ala) n.371A>G | ClinVar |
| 20 | g.10658657T>G | CA408240466 | JAG1 | c.505A>C (p.Thr169Pro) n.371A>C | |
| 20 | g.10658658C>A | CA408240468 | JAG1 | c.504G>T (p.Gln168His) n.370G>T | |
| 20 | g.10658658C= | CA2349888443 | JAG1 | c.504G= (p.Gln168=) n.370G= | |
| 20 | g.10658658C>G | CA408240469 | JAG1 | c.504G>C (p.Gln168His) n.370G>C | |
| 20 | g.10658658C>T | CA509816599 | JAG1 | c.504G>A (p.Gln168=) n.370G>A | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.10658659T>A | CA408240473 | JAG1 | c.503A>T (p.Gln168Leu) n.369A>T | |
| 20 | g.10658659T>C | CA408240472 | JAG1 | c.503A>G (p.Gln168Arg) n.369A>G | |
| 20 | g.10658659T>G | CA408240471 | JAG1 | c.503A>C (p.Gln168Pro) n.369A>C | |
| 20 | g.10658660G>A | CA408240479 | JAG1 | c.502C>T (p.Gln168Ter) n.368C>T | |
| 20 | g.10658660G>C | CA408240475 | JAG1 | c.502C>G (p.Gln168Glu) n.368C>G | |
| 20 | g.10658660G>T | CA408240477 | JAG1 | c.502C>A (p.Gln168Lys) n.368C>A | |
| 20 | g.10658661C>A | CA408240480 | JAG1 | c.501G>T (p.Trp167Cys) n.367G>T | |
| 20 | g.10658661C>G | CA408240481 | JAG1 | c.501G>C (p.Trp167Cys) n.367G>C | |
| 20 | g.10658661C>T | CA408240483 | JAG1 | c.501G>A (p.Trp167Ter) n.367G>A | |
| 20 | g.10658662C>A | CA408240488 | JAG1 | c.500G>T (p.Trp167Leu) n.366G>T | |
| 20 | g.10658662C= | CA2349888444 | JAG1 | c.500G= (p.Trp167=) n.366G= | |
| 20 | g.10658662C>G | CA408240487 | JAG1 | c.500G>C (p.Trp167Ser) n.366G>C | |
| 20 | g.10658662C>T | CA408240485 | JAG1 | c.500G>A (p.Trp167Ter) n.366G>A | ClinVar dbSNP |
| 20 | g.10658663A= | CA2349888445 | JAG1 | c.499T= (p.Trp167=) n.365T= | |
| 20 | g.10658663A>C | CA408240491 | JAG1 | c.499T>G (p.Trp167Gly) n.365T>G | |
| 20 | g.10658663A>G | CA408240492 | JAG1 | c.499T>C (p.Trp167Arg) n.365T>C | ClinVar dbSNP |
| 20 | g.10658663A>T | CA408240494 | JAG1 | c.499T>A (p.Trp167Arg) n.365T>A | |
| 20 | g.10658664C>A | CA408240495 | JAG1 | c.498G>T (p.Gln166His) n.364G>T | |
| 20 | g.10658664C= | CA2349888446 | JAG1 | c.498G= (p.Gln166=) n.364G= | |
| 20 | g.10658664C>G | CA408240497 | JAG1 | c.498G>C (p.Gln166His) n.364G>C | |
| 20 | g.10658664C>T | CA9765118 | JAG1 | c.498G>A (p.Gln166=) n.364G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.10658665T>A | CA408240499 | JAG1 | c.497A>T (p.Gln166Leu) n.363A>T | |
| 20 | g.10658665T>C | CA408240503 | JAG1 | c.497A>G (p.Gln166Arg) n.363A>G | gnomAD v4 |
| 20 | g.10658665T>G | CA408240501 | JAG1 | c.497A>C (p.Gln166Pro) n.363A>C | |
| 20 | g.10658666G>A | CA408240505 | JAG1 | c.496C>T (p.Gln166Ter) n.362C>T | ClinVar |
| 20 | g.10658666G>C | CA408240506 | JAG1 | c.496C>G (p.Gln166Glu) n.362C>G | |
| 20 | g.10658666G>T | CA408240508 | JAG1 | c.496C>A (p.Gln166Lys) n.362C>A | |
| 20 | g.10658667C>A | CA509816601 | JAG1 | c.495G>T (p.Arg165=) n.361G>T | ClinVar gnomAD v4 |
| 20 | g.10658667C>G | CA509816602 | JAG1 | c.495G>C (p.Arg165=) n.361G>C | |
| 20 | g.10658667C>T | CA509816603 | JAG1 | c.495G>A (p.Arg165=) n.361G>A | |
| 20 | g.10658668C>A | CA408240510 | JAG1 | c.494G>T (p.Arg165Leu) n.360G>T | |
| 20 | g.10658668C= | CA2349888447 | JAG1 | c.494G= (p.Arg165=) n.360G= | |
| 20 | g.10658668C>G | CA408240512 | JAG1 | c.494G>C (p.Arg165Pro) n.360G>C | |
| 20 | g.10658668C>T | CA9765119 | JAG1 | c.494G>A (p.Arg165Gln) n.360G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.10658669G>A | CA311351558 | JAG1 | c.493C>T (p.Arg165Trp) n.359C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.10658669G>C | CA408240514 | JAG1 | c.493C>G (p.Arg165Gly) n.359C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.10658669G= | CA2349888448 | JAG1 | c.493C= (p.Arg165=) n.359C= | |
| 20 | g.10658669G>T | CA9765120 | JAG1 | c.493C>A (p.Arg165=) n.359C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.10658670G>A | CA509816607 | JAG1 | c.492C>T (p.Ser164=) n.358C>T | |
| 20 | g.10658670G>C | CA408240517 | JAG1 | c.492C>G (p.Ser164Arg) n.358C>G | |
| 20 | g.10658670G>T | CA408240518 | JAG1 | c.492C>A (p.Ser164Arg) n.358C>A | |
| 20 | g.10658671C>A | CA408240521 | JAG1 | c.491G>T (p.Ser164Ile) n.357G>T | |
| 20 | g.10658671C>G | CA408240523 | JAG1 | c.491G>C (p.Ser164Thr) n.357G>C | |
| 20 | g.10658671C>T | CA408240520 | JAG1 | c.491G>A (p.Ser164Asn) n.357G>A | |
| 20 | g.10658672T>A | CA408240524 | JAG1 | c.490A>T (p.Ser164Cys) n.356A>T | |
| 20 | g.10658672T>C | CA408240526 | JAG1 | c.490A>G (p.Ser164Gly) n.356A>G | ClinVar gnomAD v4 |
| 20 | g.10658672T>G | CA408240525 | JAG1 | c.490A>C (p.Ser164Arg) n.356A>C | |
| 20 | g.10658673G>A | CA9765121 | JAG1 | c.489C>T (p.Pro163=) n.355C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.10658673G>C | CA509816609 | JAG1 | c.489C>G (p.Pro163=) n.355C>G | |
| 20 | g.10658673G= | CA2349888449 | JAG1 | c.489C= (p.Pro163=) n.355C= | |
| 20 | g.10658673G>T | CA509816610 | JAG1 | c.489C>A (p.Pro163=) n.355C>A | |
| 20 | g.10658674G>A | CA408240532 | JAG1 | c.488C>T (p.Pro163Leu) n.354C>T | |
| 20 | g.10658674G>C | CA408240529 | JAG1 | c.488C>G (p.Pro163Arg) n.354C>G | ClinVar dbSNP |
| 20 | g.10658674G= | CA2349888450 | JAG1 | c.488C= (p.Pro163=) n.354C= | |
| 20 | g.10658674G>T | CA408240530 | JAG1 | c.488C>A (p.Pro163His) n.354C>A | |
| 20 | g.10658675G>A | CA408240533 | JAG1 | c.487C>T (p.Pro163Ser) n.353C>T | ClinVar dbSNP |
| 20 | g.10658675G>C | CA408240535 | JAG1 | c.487C>G (p.Pro163Ala) n.353C>G | |
| 20 | g.10658675G= | CA2349888451 | JAG1 | c.487C= (p.Pro163=) n.353C= | |
| 20 | g.10658675G>T | CA408240537 | JAG1 | c.487C>A (p.Pro163Thr) n.353C>A | |
| 20 | g.10658676G>A | CA509816612 | JAG1 | c.486C>T (p.Asn162=) n.352C>T | gnomAD v4 |
| 20 | g.10658676G>C | CA408240538 | JAG1 | c.486C>G (p.Asn162Lys) n.352C>G | |
| 20 | g.10658676G>T | CA408240539 | JAG1 | c.486C>A (p.Asn162Lys) n.352C>A | |
| 20 | g.10658677T>A | CA408240541 | JAG1 | c.485A>T (p.Asn162Ile) n.351A>T | dbSNP |
| 20 | g.10658677T>C | CA408240542 | JAG1 | c.485A>G (p.Asn162Ser) n.351A>G | |
| 20 | g.10658677T>G | CA408240544 | JAG1 | c.485A>C (p.Asn162Thr) n.351A>C | dbSNP |
| 20 | g.10658677T= | CA2349888452 | JAG1 | c.485A= (p.Asn162=) n.351A= | |
| 20 | g.10658678T>A | CA408240545 | JAG1 | c.484A>T (p.Asn162Tyr) n.350A>T | |
| 20 | g.10658678T>C | CA408240547 | JAG1 | c.484A>G (p.Asn162Asp) n.350A>G | gnomAD v4 |
| 20 | g.10658678T>G | CA408240549 | JAG1 | c.484A>C (p.Asn162His) n.350A>C | |
| 20 | g.10658679del | CA2695229558 | JAG1 | c.483del (p.Asn162ThrfsTer9) n.349del | |
| 20 | g.10658679G>A | CA509816614 | JAG1 | c.483C>T (p.Ile161=) n.349C>T | |
| 20 | g.10658679G>C | CA408240551 | JAG1 | c.483C>G (p.Ile161Met) n.349C>G | |
| 20 | g.10658679G>T | CA509816613 | JAG1 | c.483C>A (p.Ile161=) n.349C>A | |
| 20 | g.10658680A>C | CA408240552 | JAG1 | c.482T>G (p.Ile161Ser) n.348T>G | |
| 20 | g.10658680A>G | CA408240554 | JAG1 | c.482T>C (p.Ile161Thr) n.348T>C | |
| 20 | g.10658680A>T | CA408240556 | JAG1 | c.482T>A (p.Ile161Asn) n.348T>A | |
| 20 | g.10658681T>A | CA408240558 | JAG1 | c.481A>T (p.Ile161Phe) n.347A>T | |
| 20 | g.10658681T>C | CA408240559 | JAG1 | c.481A>G (p.Ile161Val) n.347A>G | gnomAD v4 |
| 20 | g.10658681T>G | CA408240561 | JAG1 | c.481A>C (p.Ile161Leu) n.347A>C | |
| 20 | g.10658682C>A | CA408240563 | JAG1 | c.480G>T (p.Met160Ile) n.346G>T | |
| 20 | g.10658682C>G | CA408240564 | JAG1 | c.480G>C (p.Met160Ile) n.346G>C | |
| 20 | g.10658682C>T | CA408240565 | JAG1 | c.480G>A (p.Met160Ile) n.346G>A | |
| 20 | g.10658683A>C | CA408240567 | JAG1 | c.479T>G (p.Met160Arg) n.345T>G | |
| 20 | g.10658683A>G | CA408240569 | JAG1 | c.479T>C (p.Met160Thr) n.345T>C | |
| 20 | g.10658683A>T | CA408240571 | JAG1 | c.479T>A (p.Met160Lys) n.345T>A | |
| 20 | g.10658684T>A | CA408240576 | JAG1 | c.478A>T (p.Met160Leu) n.344A>T | |
| 20 | g.10658684T>C | CA408240574 | JAG1 | c.478A>G (p.Met160Val) n.344A>G | gnomAD v4 |
| 20 | g.10658684T>G | CA408240572 | JAG1 | c.478A>C (p.Met160Leu) n.344A>C | |
| 20 | g.10658685G>A | CA509816620 | JAG1 | c.477C>T (p.Gly159=) n.343C>T | COSMIC |
| 20 | g.10658685G>C | CA509816621 | JAG1 | c.477C>G (p.Gly159=) n.343C>G | |
| 20 | g.10658685G>T | CA509816622 | JAG1 | c.477C>A (p.Gly159=) n.343C>A | |
| 20 | g.10658686C>A | CA408240578 | JAG1 | c.476G>T (p.Gly159Val) n.342G>T | |
| 20 | g.10658686C>G | CA408240579 | JAG1 | c.476G>C (p.Gly159Ala) n.342G>C | |
| 20 | g.10658686C>T | CA408240580 | JAG1 | c.476G>A (p.Gly159Asp) n.342G>A | |
| 20 | g.10658687C>A | CA408240581 | JAG1 | c.475G>T (p.Gly159Cys) n.341G>T | |
| 20 | g.10658687C>G | CA408240583 | JAG1 | c.475G>C (p.Gly159Arg) n.341G>C | |
| 20 | g.10658687C>T | CA408240585 | JAG1 | c.475G>A (p.Gly159Ser) n.341G>A | |
| 20 | g.10658688C>A | CA509816626 | JAG1 | c.474G>T (p.Ser158=) n.340G>T | |
| 20 | g.10658688C= | CA2349888453 | JAG1 | c.474G= (p.Ser158=) n.340G= | |
| 20 | g.10658688C>G | CA509816627 | JAG1 | c.474G>C (p.Ser158=) n.340G>C | ClinVar dbSNP |
| 20 | g.10658688C>T | CA9765122 | JAG1 | c.474G>A (p.Ser158=) n.340G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.10658689G>A | CA9765123 | JAG1 | c.473C>T (p.Ser158Leu) n.339C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.10658689G>C | CA408240587 | JAG1 | c.473C>G (p.Ser158Trp) n.339C>G | ClinVar dbSNP gnomAD v4 |
| 20 | g.10658689G= | CA2349888454 | JAG1 | c.473C= (p.Ser158=) n.339C= | |
| 20 | g.10658689G>T | CA408240589 | JAG1 | c.473C>A (p.Ser158Ter) n.339C>A | |
| 20 | g.10658690A>C | CA408240591 | JAG1 | c.472T>G (p.Ser158Ala) n.338T>G | |
| 20 | g.10658690A>G | CA408240593 | JAG1 | c.472T>C (p.Ser158Pro) n.338T>C | gnomAD v4 |
| 20 | g.10658690A>T | CA408240594 | JAG1 | c.472T>A (p.Ser158Thr) n.338T>A | |
| 20 | g.10658690_10658691insATGTAACAGAGGTATGT | CA2568721658 | JAG1 | c.471_472insACATACCTCTGTTACAT (p.Ser158ThrfsTer9) n.337_338insACATACCTCTGTTACAT | |
| 20 | g.10658691G>A | CA509816629 | JAG1 | c.471C>T (p.His157=) n.337C>T | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.10658691G>C | CA408240598 | JAG1 | c.471C>G (p.His157Gln) n.337C>G | |
| 20 | g.10658691G= | CA2349888455 | JAG1 | c.471C= (p.His157=) n.337C= | |
| 20 | g.10658691G>T | CA408240596 | JAG1 | c.471C>A (p.His157Gln) n.337C>A | |
| 20 | g.10658692T>A | CA408240599 | JAG1 | c.470A>T (p.His157Leu) n.336A>T | |
| 20 | g.10658692T>C | CA408240601 | JAG1 | c.470A>G (p.His157Arg) n.336A>G | |
| 20 | g.10658692T>G | CA408240602 | JAG1 | c.470A>C (p.His157Pro) n.336A>C | ClinVar dbSNP |
| 20 | g.10658693G>A | CA408240604 | JAG1 | c.469C>T (p.His157Tyr) n.335C>T | |
| 20 | g.10658693G>C | CA408240606 | JAG1 | c.469C>G (p.His157Asp) n.335C>G | |
| 20 | g.10658693G>T | CA408240607 | JAG1 | c.469C>A (p.His157Asn) n.335C>A | |
| 20 | g.10658695_10658696dup | CA2695229559 | JAG1 | c.468_469dup (p.His157LeufsTer5) n.334_335dup | |
| 20 | g.10658694A>C | CA509816633 | JAG1 | c.468T>G (p.Ser156=) n.334T>G | |
| 20 | g.10658694A>G | CA509816634 | JAG1 | c.468T>C (p.Ser156=) n.334T>C | ClinVar dbSNP gnomAD v4 |
| 20 | g.10658694A>T | CA509816635 | JAG1 | c.468T>A (p.Ser156=) n.334T>A | |
| 20 | g.10658695G>A | CA408240609 | JAG1 | c.467C>T (p.Ser156Phe) n.333C>T | dbSNP |
| 20 | g.10658695G>C | CA408240611 | JAG1 | c.467C>G (p.Ser156Cys) n.333C>G | |
| 20 | g.10658695G= | CA2349888456 | JAG1 | c.467C= (p.Ser156=) n.333C= | |
| 20 | g.10658695G>T | CA408240612 | JAG1 | c.467C>A (p.Ser156Tyr) n.333C>A | dbSNP |
| 20 | g.10658696A>C | CA408240613 | JAG1 | c.466T>G (p.Ser156Ala) n.332T>G | |
| 20 | g.10658696A>G | CA408240615 | JAG1 | c.466T>C (p.Ser156Pro) n.332T>C | |
| 20 | g.10658696A>T | CA408240616 | JAG1 | c.466T>A (p.Ser156Thr) n.332T>A | |
| 20 | g.10658697A>C | CA509816637 | JAG1 | c.465T>G (p.Ala155=) n.331T>G | |
| 20 | g.10658697A>G | CA509816638 | JAG1 | c.465T>C (p.Ala155=) n.331T>C | |
| 20 | g.10658697A>T | CA509816639 | JAG1 | c.465T>A (p.Ala155=) n.331T>A | |
| 20 | g.10658698G>A | CA408240620 | JAG1 | c.464C>T (p.Ala155Val) n.330C>T | |
| 20 | g.10658698G>C | CA408240619 | JAG1 | c.464C>G (p.Ala155Gly) n.330C>G | |
| 20 | g.10658698G>T | CA408240618 | JAG1 | c.464C>A (p.Ala155Asp) n.330C>A | |
| 20 | g.10658699C>A | CA408240622 | JAG1 | c.463G>T (p.Ala155Ser) n.329G>T | |
| 20 | g.10658699C>G | CA408240624 | JAG1 | c.463G>C (p.Ala155Pro) n.329G>C | ClinVar |
| 20 | g.10658699C>T | CA408240625 | JAG1 | c.463G>A (p.Ala155Thr) n.329G>A | |
| 20 | g.10658700C>A | CA408240626 | JAG1 | c.462G>T (p.Lys154Asn) n.328G>T | |
| 20 | g.10658700C>G | CA408240627 | JAG1 | c.462G>C (p.Lys154Asn) n.328G>C | |
| 20 | g.10658700C>T | CA509816640 | JAG1 | c.462G>A (p.Lys154=) n.328G>A | gnomAD v4 |
| 20 | g.10658701T>A | CA408240629 | JAG1 | c.461A>T (p.Lys154Met) n.327A>T | |
| 20 | g.10658701T>C | CA408240631 | JAG1 | c.461A>G (p.Lys154Arg) n.327A>G | |
| 20 | g.10658701T>G | CA408240633 | JAG1 | c.461A>C (p.Lys154Thr) n.327A>C | |
| 20 | g.10658702T>A | CA408240634 | JAG1 | c.460A>T (p.Lys154Ter) n.326A>T | |
| 20 | g.10658702T>C | CA408240636 | JAG1 | c.460A>G (p.Lys154Glu) n.326A>G | |
| 20 | g.10658702T>G | CA408240638 | JAG1 | c.460A>C (p.Lys154Gln) n.326A>C | |
| 20 | g.10658702T= | CA2349888457 | JAG1 | c.460A= (p.Lys154=) n.326A= | |
| 20 | g.10658702_10658703insA | CA913190631 | JAG1 | c.459_460insT (p.Lys154Ter) n.325_326insT | ClinVar dbSNP |
| 20 | g.10658703T>A | CA408240639 | JAG1 | c.459A>T (p.Glu153Asp) n.325A>T | |
| 20 | g.10658703T>C | CA509816641 | JAG1 | c.459A>G (p.Glu153=) n.325A>G | |
| 20 | g.10658703T>G | CA408240641 | JAG1 | c.459A>C (p.Glu153Asp) n.325A>C | |
| 20 | g.10658704T>A | CA408240646 | JAG1 | c.458A>T (p.Glu153Val) n.324A>T | |
| 20 | g.10658704T>C | CA408240645 | JAG1 | c.458A>G (p.Glu153Gly) n.324A>G | |
| 20 | g.10658704T>G | CA408240643 | JAG1 | c.458A>C (p.Glu153Ala) n.324A>C | |
| 20 | g.10658705C>A | CA408240648 | JAG1 | c.457G>T (p.Glu153Ter) n.323G>T | |
| 20 | g.10658705C>G | CA408240650 | JAG1 | c.457G>C (p.Glu153Gln) n.323G>C | |
| 20 | g.10658705C>T | CA408240651 | JAG1 | c.457G>A (p.Glu153Lys) n.323G>A | |
| 20 | g.10658706A>C | CA408240653 | JAG1 | c.456T>G (p.Ile152Met) n.322T>G | |
| 20 | g.10658706A>G | CA509816643 | JAG1 | c.456T>C (p.Ile152=) n.322T>C | |
| 20 | g.10658706A>T | CA509816644 | JAG1 | c.456T>A (p.Ile152=) n.322T>A | |
| 20 | g.10658707A>C | CA408240654 | JAG1 | c.455T>G (p.Ile152Ser) n.321T>G | |
| 20 | g.10658707A>G | CA408240656 | JAG1 | c.455T>C (p.Ile152Thr) n.321T>C | |
| 20 | g.10658707A>T | CA408240658 | JAG1 | c.455T>A (p.Ile152Asn) n.321T>A | |
| 20 | g.10658708T>A | CA408240660 | JAG1 | c.454A>T (p.Ile152Phe) n.320A>T | |
| 20 | g.10658708T>C | CA408240661 | JAG1 | c.454A>G (p.Ile152Val) n.320A>G | |
| 20 | g.10658708T>G | CA408240663 | JAG1 | c.454A>C (p.Ile152Leu) n.320A>C | |
| 20 | g.10658709A>C | CA408240664 | JAG1 | c.453T>G (p.Ile151Met) n.319T>G | |
| 20 | g.10658709A>G | CA509816645 | JAG1 | c.453T>C (p.Ile151=) n.319T>C | |
| 20 | g.10658709A>T | CA509816646 | JAG1 | c.453T>A (p.Ile151=) n.319T>A | |
| 20 | g.10658710A>C | CA408240666 | JAG1 | c.452T>G (p.Ile151Ser) n.318T>G | |
| 20 | g.10658710A>G | CA408240668 | JAG1 | c.452T>C (p.Ile151Thr) n.318T>C | |
| 20 | g.10658710A>T | CA408240670 | JAG1 | c.452T>A (p.Ile151Asn) n.318T>A | |
| 20 | g.10658711T>A | CA408240673 | JAG1 | c.451A>T (p.Ile151Phe) n.317A>T | |
| 20 | g.10658711T>C | CA408240675 | JAG1 | c.451A>G (p.Ile151Val) n.317A>G | |
| 20 | g.10658711T>G | CA408240671 | JAG1 | c.451A>C (p.Ile151Leu) n.317A>C | |
| 20 | g.10658712A>C | CA408240677 | JAG1 | c.450T>G (p.Ser150Arg) n.316T>G | |
| 20 | g.10658712A>G | CA509816647 | JAG1 | c.450T>C (p.Ser150=) n.316T>C | |
| 20 | g.10658712A>T | CA408240678 | JAG1 | c.450T>A (p.Ser150Arg) n.316T>A | |
| 20 | g.10658713C>A | CA408240680 | JAG1 | c.449G>T (p.Ser150Ile) n.315G>T | |
| 20 | g.10658713C>G | CA408240681 | JAG1 | c.449G>C (p.Ser150Thr) n.315G>C | |
| 20 | g.10658713C>T | CA408240683 | JAG1 | c.449G>A (p.Ser150Asn) n.315G>A | gnomAD v4 |