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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.36684423G>A | CA3780383 | CDKN1A | c.322G>A (p.Glu108Lys) n.516G>A n.541G>A c.424G>A (p.Glu142Lys) c.361G>A (p.Glu121Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.36684423G>C | CA363834465 | CDKN1A | c.322G>C (p.Glu108Gln) n.516G>C n.541G>C c.424G>C (p.Glu142Gln) c.361G>C (p.Glu121Gln) | dbSNP COSMIC COSMIC |
| 6 | g.36684423G= | CA1621457026 | CDKN1A | c.322G= (p.Glu108=) n.516G= n.541G= c.424G= (p.Glu142=) c.361G= (p.Glu121=) | |
| 6 | g.36684423G>T | CA363834466 | CDKN1A | c.322G>T (p.Glu108Ter) n.516G>T n.541G>T c.424G>T (p.Glu142Ter) c.361G>T (p.Glu121Ter) | dbSNP |
| 6 | g.36684424A>C | CA363834469 | CDKN1A | c.323A>C (p.Glu108Ala) n.517A>C n.542A>C c.425A>C (p.Glu142Ala) c.362A>C (p.Glu121Ala) | |
| 6 | g.36684424A>G | CA363834467 | CDKN1A | c.323A>G (p.Glu108Gly) n.517A>G n.542A>G c.425A>G (p.Glu142Gly) c.362A>G (p.Glu121Gly) | |
| 6 | g.36684424A>T | CA363834468 | CDKN1A | c.323A>T (p.Glu108Val) n.517A>T n.542A>T c.425A>T (p.Glu142Val) c.362A>T (p.Glu121Val) | |
| 6 | g.36684425A>C | CA363834470 | CDKN1A | c.324A>C (p.Glu108Asp) n.518A>C n.543A>C c.426A>C (p.Glu142Asp) c.363A>C (p.Glu121Asp) | |
| 6 | g.36684425A>G | CA450129471 | CDKN1A | c.324A>G (p.Glu108=) n.518A>G n.543A>G c.426A>G (p.Glu142=) c.363A>G (p.Glu121=) | dbSNP |
| 6 | g.36684425A>T | CA363834471 | CDKN1A | c.324A>T (p.Glu108Asp) n.518A>T n.543A>T c.426A>T (p.Glu142Asp) c.363A>T (p.Glu121Asp) | |
| 6 | g.36684426G>A | CA363834472 | CDKN1A | c.325G>A (p.Asp109Asn) n.519G>A n.544G>A c.427G>A (p.Asp143Asn) c.364G>A (p.Asp122Asn) | |
| 6 | g.36684426G>C | CA363834473 | CDKN1A | c.325G>C (p.Asp109His) n.519G>C n.544G>C c.427G>C (p.Asp143His) c.364G>C (p.Asp122His) | |
| 6 | g.36684426G>T | CA363834474 | CDKN1A | c.325G>T (p.Asp109Tyr) n.519G>T n.544G>T c.427G>T (p.Asp143Tyr) c.364G>T (p.Asp122Tyr) | |
| 6 | g.36684427A>C | CA363834475 | CDKN1A | c.326A>C (p.Asp109Ala) n.520A>C n.545A>C c.428A>C (p.Asp143Ala) c.365A>C (p.Asp122Ala) | |
| 6 | g.36684427A>G | CA363834476 | CDKN1A | c.326A>G (p.Asp109Gly) n.520A>G n.545A>G c.428A>G (p.Asp143Gly) c.365A>G (p.Asp122Gly) | |
| 6 | g.36684427A>T | CA363834477 | CDKN1A | c.326A>T (p.Asp109Val) n.520A>T n.545A>T c.428A>T (p.Asp143Val) c.365A>T (p.Asp122Val) | |
| 6 | g.36684428C>A | CA363834478 | CDKN1A | c.327C>A (p.Asp109Glu) n.521C>A n.546C>A c.429C>A (p.Asp143Glu) c.366C>A (p.Asp122Glu) | dbSNP |
| 6 | g.36684428C= | CA1621457027 | CDKN1A | c.327C= (p.Asp109=) n.521C= n.546C= c.429C= (p.Asp143=) c.366C= (p.Asp122=) | |
| 6 | g.36684428C>G | CA363834479 | CDKN1A | c.327C>G (p.Asp109Glu) n.521C>G n.546C>G c.429C>G (p.Asp143Glu) c.366C>G (p.Asp122Glu) | dbSNP |
| 6 | g.36684428C>T | CA450129472 | CDKN1A | c.327C>T (p.Asp109=) n.521C>T n.546C>T c.429C>T (p.Asp143=) c.366C>T (p.Asp122=) | dbSNP gnomAD v4 |
| 6 | g.36684429C>A | CA363834480 | CDKN1A | c.328C>A (p.His110Asn) n.522C>A n.547C>A c.430C>A (p.His144Asn) c.367C>A (p.His123Asn) | dbSNP |
| 6 | g.36684429C>G | CA363834481 | CDKN1A | c.328C>G (p.His110Asp) n.522C>G n.547C>G c.430C>G (p.His144Asp) c.367C>G (p.His123Asp) | ClinVar dbSNP gnomAD v4 |
| 6 | g.36684429C>T | CA363834482 | CDKN1A | c.328C>T (p.His110Tyr) n.522C>T n.547C>T c.430C>T (p.His144Tyr) c.367C>T (p.His123Tyr) | dbSNP |
| 6 | g.36684430A= | CA1621457028 | CDKN1A | c.329A= (p.His110=) n.523A= n.548A= c.431A= (p.His144=) c.368A= (p.His123=) | |
| 6 | g.36684430A>C | CA363834483 | CDKN1A | c.329A>C (p.His110Pro) n.523A>C n.548A>C c.431A>C (p.His144Pro) c.368A>C (p.His123Pro) | |
| 6 | g.36684430A>G | CA363834485 | CDKN1A | c.329A>G (p.His110Arg) n.523A>G n.548A>G c.431A>G (p.His144Arg) c.368A>G (p.His123Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.36684430A>T | CA363834484 | CDKN1A | c.329A>T (p.His110Leu) n.523A>T n.548A>T c.431A>T (p.His144Leu) c.368A>T (p.His123Leu) | dbSNP |
| 6 | g.36684431T>A | CA363834486 | CDKN1A | c.330T>A (p.His110Gln) n.524T>A n.549T>A c.432T>A (p.His144Gln) c.369T>A (p.His123Gln) | |
| 6 | g.36684431T>C | CA450129473 | CDKN1A | c.330T>C (p.His110=) n.524T>C n.549T>C c.432T>C (p.His144=) c.369T>C (p.His123=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.36684431T>G | CA363834487 | CDKN1A | c.330T>G (p.His110Gln) n.524T>G n.549T>G c.432T>G (p.His144Gln) c.369T>G (p.His123Gln) | |
| 6 | g.36684431T= | CA1621457029 | CDKN1A | c.330T= (p.His110=) n.524T= n.549T= c.432T= (p.His144=) c.369T= (p.His123=) | |
| 6 | g.36684432G>A | CA3780384 | CDKN1A | c.331G>A (p.Val111Met) n.525G>A n.550G>A c.433G>A (p.Val145Met) c.370G>A (p.Val124Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.36684432G>C | CA363834488 | CDKN1A | c.331G>C (p.Val111Leu) n.525G>C n.550G>C c.433G>C (p.Val145Leu) c.370G>C (p.Val124Leu) | dbSNP |
| 6 | g.36684432G= | CA1621457030 | CDKN1A | c.331G= (p.Val111=) n.525G= n.550G= c.433G= (p.Val145=) c.370G= (p.Val124=) | |
| 6 | g.36684432G>T | CA363834489 | CDKN1A | c.331G>T (p.Val111Leu) n.525G>T n.550G>T c.433G>T (p.Val145Leu) c.370G>T (p.Val124Leu) | |
| 6 | g.36684433T>A | CA363834490 | CDKN1A | c.332T>A (p.Val111Glu) n.526T>A n.551T>A c.434T>A (p.Val145Glu) c.371T>A (p.Val124Glu) | |
| 6 | g.36684433T>C | CA363834491 | CDKN1A | c.332T>C (p.Val111Ala) n.526T>C n.551T>C c.434T>C (p.Val145Ala) c.371T>C (p.Val124Ala) | |
| 6 | g.36684433T>G | CA363834492 | CDKN1A | c.332T>G (p.Val111Gly) n.526T>G n.551T>G c.434T>G (p.Val145Gly) c.371T>G (p.Val124Gly) | |
| 6 | g.36684434G>A | CA450129474 | CDKN1A | c.333G>A (p.Val111=) n.527G>A n.552G>A c.435G>A (p.Val145=) c.372G>A (p.Val124=) | |
| 6 | g.36684434G>C | CA450129475 | CDKN1A | c.333G>C (p.Val111=) n.527G>C n.552G>C c.435G>C (p.Val145=) c.372G>C (p.Val124=) | |
| 6 | g.36684434G>T | CA450129476 | CDKN1A | c.333G>T (p.Val111=) n.527G>T n.552G>T c.435G>T (p.Val145=) c.372G>T (p.Val124=) | |
| 6 | g.36684435G>A | CA363834493 | CDKN1A | c.334G>A (p.Asp112Asn) n.528G>A n.553G>A c.436G>A (p.Asp146Asn) c.373G>A (p.Asp125Asn) | dbSNP gnomAD v4 |
| 6 | g.36684435G>C | CA363834494 | CDKN1A | c.334G>C (p.Asp112His) n.528G>C n.553G>C c.436G>C (p.Asp146His) c.373G>C (p.Asp125His) | dbSNP |
| 6 | g.36684435G>T | CA363834495 | CDKN1A | c.334G>T (p.Asp112Tyr) n.528G>T n.553G>T c.436G>T (p.Asp146Tyr) c.373G>T (p.Asp125Tyr) | gnomAD v4 |
| 6 | g.36684436A= | CA1621457031 | CDKN1A | c.335A= (p.Asp112=) n.529A= n.554A= c.437A= (p.Asp146=) c.374A= (p.Asp125=) | |
| 6 | g.36684436A>C | CA363834498 | CDKN1A | c.335A>C (p.Asp112Ala) n.529A>C n.554A>C c.437A>C (p.Asp146Ala) c.374A>C (p.Asp125Ala) | dbSNP |
| 6 | g.36684436A>G | CA363834497 | CDKN1A | c.335A>G (p.Asp112Gly) n.529A>G n.554A>G c.437A>G (p.Asp146Gly) c.374A>G (p.Asp125Gly) | dbSNP |
| 6 | g.36684436A>T | CA363834496 | CDKN1A | c.335A>T (p.Asp112Val) n.529A>T n.554A>T c.437A>T (p.Asp146Val) c.374A>T (p.Asp125Val) | dbSNP |
| 6 | g.36684437C>A | CA3780385 | CDKN1A | c.336C>A (p.Asp112Glu) n.530C>A n.555C>A c.438C>A (p.Asp146Glu) c.375C>A (p.Asp125Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.36684437C= | CA1621457032 | CDKN1A | c.336C= (p.Asp112=) n.530C= n.555C= c.438C= (p.Asp146=) c.375C= (p.Asp125=) | |
| 6 | g.36684437C>G | CA363834499 | CDKN1A | c.336C>G (p.Asp112Glu) n.530C>G n.555C>G c.438C>G (p.Asp146Glu) c.375C>G (p.Asp125Glu) | dbSNP |
| 6 | g.36684437C>T | CA450129477 | CDKN1A | c.336C>T (p.Asp112=) n.530C>T n.555C>T c.438C>T (p.Asp146=) c.375C>T (p.Asp125=) | dbSNP gnomAD v4 |
| 6 | g.36684438C>A | CA363834500 | CDKN1A | c.337C>A (p.Leu113Met) n.531C>A n.556C>A c.439C>A (p.Leu147Met) c.376C>A (p.Leu126Met) | dbSNP COSMIC |
| 6 | g.36684438C= | CA1621457033 | CDKN1A | c.337C= (p.Leu113=) n.531C= n.556C= c.439C= (p.Leu147=) c.376C= (p.Leu126=) | |
| 6 | g.36684438C>G | CA363834501 | CDKN1A | c.337C>G (p.Leu113Val) n.531C>G n.556C>G c.439C>G (p.Leu147Val) c.376C>G (p.Leu126Val) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.36684438C>T | CA450129478 | CDKN1A | c.337C>T (p.Leu113=) n.531C>T n.556C>T c.439C>T (p.Leu147=) c.376C>T (p.Leu126=) | dbSNP gnomAD v4 |
| 6 | g.36684439T>A | CA363834502 | CDKN1A | c.338T>A (p.Leu113Gln) n.532T>A n.557T>A c.440T>A (p.Leu147Gln) c.377T>A (p.Leu126Gln) | dbSNP |
| 6 | g.36684439T>C | CA3780386 | CDKN1A | c.338T>C (p.Leu113Pro) n.532T>C n.557T>C c.440T>C (p.Leu147Pro) c.377T>C (p.Leu126Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.36684439T>G | CA363834503 | CDKN1A | c.338T>G (p.Leu113Arg) n.532T>G n.557T>G c.440T>G (p.Leu147Arg) c.377T>G (p.Leu126Arg) | |
| 6 | g.36684439T= | CA1621457034 | CDKN1A | c.338T= (p.Leu113=) n.532T= n.557T= c.440T= (p.Leu147=) c.377T= (p.Leu126=) | |
| 6 | g.36684440G>A | CA450129479 | CDKN1A | c.339G>A (p.Leu113=) n.533G>A n.558G>A c.441G>A (p.Leu147=) c.378G>A (p.Leu126=) | dbSNP |
| 6 | g.36684440G>C | CA450129480 | CDKN1A | c.339G>C (p.Leu113=) n.533G>C n.558G>C c.441G>C (p.Leu147=) c.378G>C (p.Leu126=) | dbSNP gnomAD v4 |
| 6 | g.36684440G>T | CA450129481 | CDKN1A | c.339G>T (p.Leu113=) n.533G>T n.558G>T c.441G>T (p.Leu147=) c.378G>T (p.Leu126=) | dbSNP |
| 6 | g.36684441T>A | CA363834504 | CDKN1A | c.340T>A (p.Ser114Thr) n.534T>A n.559T>A c.442T>A (p.Ser148Thr) c.379T>A (p.Ser127Thr) | dbSNP |
| 6 | g.36684441T>C | CA363834505 | CDKN1A | c.340T>C (p.Ser114Pro) n.534T>C n.559T>C c.442T>C (p.Ser148Pro) c.379T>C (p.Ser127Pro) | dbSNP |
| 6 | g.36684441T>G | CA363834506 | CDKN1A | c.340T>G (p.Ser114Ala) n.534T>G n.559T>G c.442T>G (p.Ser148Ala) c.379T>G (p.Ser127Ala) | dbSNP |
| 6 | g.36684442C>A | CA363834507 | CDKN1A | c.341C>A (p.Ser114Ter) n.535C>A n.560C>A c.443C>A (p.Ser148Ter) c.380C>A (p.Ser127Ter) | |
| 6 | g.36684442C= | CA1621457035 | CDKN1A | c.341C= (p.Ser114=) n.535C= n.560C= c.443C= (p.Ser148=) c.380C= (p.Ser127=) | |
| 6 | g.36684442C>G | CA363834508 | CDKN1A | c.341C>G (p.Ser114Ter) n.535C>G n.560C>G c.443C>G (p.Ser148Ter) c.380C>G (p.Ser127Ter) | |
| 6 | g.36684442C>T | CA363834509 | CDKN1A | c.341C>T (p.Ser114Leu) n.535C>T n.560C>T c.443C>T (p.Ser148Leu) c.380C>T (p.Ser127Leu) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 6 | g.36684443A>C | CA450129482 | CDKN1A | c.342A>C (p.Ser114=) n.536A>C n.561A>C c.444A>C (p.Ser148=) c.381A>C (p.Ser127=) | dbSNP |
| 6 | g.36684443A>G | CA450129483 | CDKN1A | c.342A>G (p.Ser114=) n.536A>G n.561A>G c.444A>G (p.Ser148=) c.381A>G (p.Ser127=) | gnomAD v4 |
| 6 | g.36684443A>T | CA450129484 | CDKN1A | c.342A>T (p.Ser114=) n.536A>T n.561A>T c.444A>T (p.Ser148=) c.381A>T (p.Ser127=) | dbSNP |
| 6 | g.36684444C>A | CA363834510 | CDKN1A | c.343C>A (p.Leu115Met) n.537C>A n.562C>A c.445C>A (p.Leu149Met) c.382C>A (p.Leu128Met) | dbSNP |
| 6 | g.36684444C= | CA1621457036 | CDKN1A | c.343C= (p.Leu115=) n.537C= n.562C= c.445C= (p.Leu149=) c.382C= (p.Leu128=) | |
| 6 | g.36684444C>G | CA363834511 | CDKN1A | c.343C>G (p.Leu115Val) n.537C>G n.562C>G c.445C>G (p.Leu149Val) c.382C>G (p.Leu128Val) | dbSNP |
| 6 | g.36684444C>T | CA450129485 | CDKN1A | c.343C>T (p.Leu115=) n.537C>T n.562C>T c.445C>T (p.Leu149=) c.382C>T (p.Leu128=) | dbSNP gnomAD v2 |
| 6 | g.36684445T>A | CA363834512 | CDKN1A | c.344T>A (p.Leu115Gln) n.538T>A n.563T>A c.446T>A (p.Leu149Gln) c.383T>A (p.Leu128Gln) | |
| 6 | g.36684445T>C | CA363834513 | CDKN1A | c.344T>C (p.Leu115Pro) n.538T>C n.563T>C c.446T>C (p.Leu149Pro) c.383T>C (p.Leu128Pro) | |
| 6 | g.36684445T>G | CA3780387 | CDKN1A | c.344T>G (p.Leu115Arg) n.538T>G n.563T>G c.446T>G (p.Leu149Arg) c.383T>G (p.Leu128Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.36684445T= | CA1621457037 | CDKN1A | c.344T= (p.Leu115=) n.538T= n.563T= c.446T= (p.Leu149=) c.383T= (p.Leu128=) | |
| 6 | g.36684446G>A | CA450129486 | CDKN1A | c.345G>A (p.Leu115=) n.539G>A n.564G>A c.447G>A (p.Leu149=) c.384G>A (p.Leu128=) | dbSNP |
| 6 | g.36684446G>C | CA450129488 | CDKN1A | c.345G>C (p.Leu115=) n.539G>C n.564G>C c.447G>C (p.Leu149=) c.384G>C (p.Leu128=) | dbSNP |
| 6 | g.36684446G>T | CA450129487 | CDKN1A | c.345G>T (p.Leu115=) n.539G>T n.564G>T c.447G>T (p.Leu149=) c.384G>T (p.Leu128=) | |
| 6 | g.36684447T>A | CA363834514 | CDKN1A | c.346T>A (p.Ser116Thr) n.540T>A n.565T>A c.448T>A (p.Ser150Thr) c.385T>A (p.Ser129Thr) | dbSNP |
| 6 | g.36684447T>C | CA363834515 | CDKN1A | c.346T>C (p.Ser116Pro) n.540T>C n.565T>C c.448T>C (p.Ser150Pro) c.385T>C (p.Ser129Pro) | |
| 6 | g.36684447T>G | CA3780388 | CDKN1A | c.346T>G (p.Ser116Ala) n.540T>G n.565T>G c.448T>G (p.Ser150Ala) c.385T>G (p.Ser129Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.36684447T= | CA1621457038 | CDKN1A | c.346T= (p.Ser116=) n.540T= n.565T= c.448T= (p.Ser150=) c.385T= (p.Ser129=) | |
| 6 | g.36684448C>A | CA363834516 | CDKN1A | c.347C>A (p.Ser116Tyr) n.541C>A n.566C>A c.449C>A (p.Ser150Tyr) c.386C>A (p.Ser129Tyr) | dbSNP |
| 6 | g.36684448C>G | CA363834517 | CDKN1A | c.347C>G (p.Ser116Cys) n.541C>G n.566C>G c.449C>G (p.Ser150Cys) c.386C>G (p.Ser129Cys) | dbSNP |
| 6 | g.36684448C>T | CA363834518 | CDKN1A | c.347C>T (p.Ser116Phe) n.541C>T n.566C>T c.449C>T (p.Ser150Phe) c.386C>T (p.Ser129Phe) | |
| 6 | g.36684449T>A | CA450129489 | CDKN1A | c.348T>A (p.Ser116=) n.542T>A n.567T>A c.450T>A (p.Ser150=) c.387T>A (p.Ser129=) | dbSNP |
| 6 | g.36684449T>C | CA450129490 | CDKN1A | c.348T>C (p.Ser116=) n.542T>C n.567T>C c.450T>C (p.Ser150=) c.387T>C (p.Ser129=) | gnomAD v4 |
| 6 | g.36684449T>G | CA450129491 | CDKN1A | c.348T>G (p.Ser116=) n.542T>G n.567T>G c.450T>G (p.Ser150=) c.387T>G (p.Ser129=) | |
| 6 | g.36684450T>A | CA363834519 | CDKN1A | c.349T>A (p.Cys117Ser) n.543T>A n.568T>A c.451T>A (p.Cys151Ser) c.388T>A (p.Cys130Ser) | dbSNP |
| 6 | g.36684450T>C | CA363834520 | CDKN1A | c.349T>C (p.Cys117Arg) n.543T>C n.568T>C c.451T>C (p.Cys151Arg) c.388T>C (p.Cys130Arg) | dbSNP gnomAD v4 |
| 6 | g.36684450T>G | CA363834521 | CDKN1A | c.349T>G (p.Cys117Gly) n.543T>G n.568T>G c.451T>G (p.Cys151Gly) c.388T>G (p.Cys130Gly) | |
| 6 | g.36684450T= | CA1621457039 | CDKN1A | c.349T= (p.Cys117=) n.543T= n.568T= c.451T= (p.Cys151=) c.388T= (p.Cys130=) | |
| 6 | g.36684451G>A | CA3780389 | CDKN1A | c.350G>A (p.Cys117Tyr) n.544G>A n.569G>A c.452G>A (p.Cys151Tyr) c.389G>A (p.Cys130Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.36684451G>C | CA363834522 | CDKN1A | c.350G>C (p.Cys117Ser) n.544G>C n.569G>C c.452G>C (p.Cys151Ser) c.389G>C (p.Cys130Ser) | dbSNP |
| 6 | g.36684451G= | CA1621457040 | CDKN1A | c.350G= (p.Cys117=) n.544G= n.569G= c.452G= (p.Cys151=) c.389G= (p.Cys130=) | |
| 6 | g.36684451G>T | CA363834523 | CDKN1A | c.350G>T (p.Cys117Phe) n.544G>T n.569G>T c.452G>T (p.Cys151Phe) c.389G>T (p.Cys130Phe) | |
| 6 | g.36684452T>A | CA363834525 | CDKN1A | c.351T>A (p.Cys117Ter) n.545T>A n.570T>A c.453T>A (p.Cys151Ter) c.390T>A (p.Cys130Ter) | dbSNP |
| 6 | g.36684452T>C | CA450129492 | CDKN1A | c.351T>C (p.Cys117=) n.545T>C n.570T>C c.453T>C (p.Cys151=) c.390T>C (p.Cys130=) | |
| 6 | g.36684452T>G | CA363834524 | CDKN1A | c.351T>G (p.Cys117Trp) n.545T>G n.570T>G c.453T>G (p.Cys151Trp) c.390T>G (p.Cys130Trp) | dbSNP |
| 6 | g.36684453A>C | CA363834526 | CDKN1A | c.352A>C (p.Thr118Pro) n.546A>C n.571A>C c.454A>C (p.Thr152Pro) c.391A>C (p.Thr131Pro) | |
| 6 | g.36684453A>G | CA363834527 | CDKN1A | c.352A>G (p.Thr118Ala) n.546A>G n.571A>G c.454A>G (p.Thr152Ala) c.391A>G (p.Thr131Ala) | |
| 6 | g.36684453A>T | CA363834528 | CDKN1A | c.352A>T (p.Thr118Ser) n.546A>T n.571A>T c.454A>T (p.Thr152Ser) c.391A>T (p.Thr131Ser) | dbSNP |
| 6 | g.36684454C>A | CA363834529 | CDKN1A | c.353C>A (p.Thr118Asn) n.547C>A n.572C>A c.455C>A (p.Thr152Asn) c.392C>A (p.Thr131Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.36684454C= | CA1621457041 | CDKN1A | c.353C= (p.Thr118=) n.547C= n.572C= c.455C= (p.Thr152=) c.392C= (p.Thr131=) | |
| 6 | g.36684454C>G | CA3780390 | CDKN1A | c.353C>G (p.Thr118Ser) n.547C>G n.572C>G c.455C>G (p.Thr152Ser) c.392C>G (p.Thr131Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.36684454C>T | CA363834530 | CDKN1A | c.353C>T (p.Thr118Ile) n.547C>T n.572C>T c.455C>T (p.Thr152Ile) c.392C>T (p.Thr131Ile) | dbSNP |
| 6 | g.36684455C>A | CA450129493 | CDKN1A | c.354C>A (p.Thr118=) n.548C>A n.573C>A c.456C>A (p.Thr152=) c.393C>A (p.Thr131=) | dbSNP |
| 6 | g.36684455C>G | CA450129494 | CDKN1A | c.354C>G (p.Thr118=) n.548C>G n.573C>G c.456C>G (p.Thr152=) c.393C>G (p.Thr131=) | dbSNP |
| 6 | g.36684455C>T | CA450129495 | CDKN1A | c.354C>T (p.Thr118=) n.548C>T n.573C>T c.456C>T (p.Thr152=) c.393C>T (p.Thr131=) | dbSNP |
| 6 | g.36684456C>A | CA363834531 | CDKN1A | c.355C>A (p.Leu119Ile) n.549C>A n.574C>A c.457C>A (p.Leu153Ile) c.394C>A (p.Leu132Ile) | dbSNP |
| 6 | g.36684456C>G | CA363834532 | CDKN1A | c.355C>G (p.Leu119Val) n.549C>G n.574C>G c.457C>G (p.Leu153Val) c.394C>G (p.Leu132Val) | dbSNP |
| 6 | g.36684456C>T | CA363834533 | CDKN1A | c.355C>T (p.Leu119Phe) n.549C>T n.574C>T c.457C>T (p.Leu153Phe) c.394C>T (p.Leu132Phe) | dbSNP |
| 6 | g.36684457T>A | CA363834534 | CDKN1A | c.356T>A (p.Leu119His) n.550T>A n.575T>A c.458T>A (p.Leu153His) c.395T>A (p.Leu132His) | dbSNP |
| 6 | g.36684457T>C | CA363834535 | CDKN1A | c.356T>C (p.Leu119Pro) n.550T>C n.575T>C c.458T>C (p.Leu153Pro) c.395T>C (p.Leu132Pro) | dbSNP |
| 6 | g.36684457T>G | CA363834536 | CDKN1A | c.356T>G (p.Leu119Arg) n.550T>G n.575T>G c.458T>G (p.Leu153Arg) c.395T>G (p.Leu132Arg) | |
| 6 | g.36684458T>A | CA450129496 | CDKN1A | c.357T>A (p.Leu119=) n.551T>A n.576T>A c.459T>A (p.Leu153=) c.396T>A (p.Leu132=) | dbSNP |
| 6 | g.36684458T>C | CA450129498 | CDKN1A | c.357T>C (p.Leu119=) n.551T>C n.576T>C c.459T>C (p.Leu153=) c.396T>C (p.Leu132=) | dbSNP |
| 6 | g.36684458T>G | CA450129497 | CDKN1A | c.357T>G (p.Leu119=) n.551T>G n.576T>G c.459T>G (p.Leu153=) c.396T>G (p.Leu132=) | |
| 6 | g.36684459G>A | CA363834539 | CDKN1A | c.358G>A (p.Val120Met) n.552G>A n.577G>A c.460G>A (p.Val154Met) c.397G>A (p.Val133Met) | dbSNP |
| 6 | g.36684459G>C | CA363834538 | CDKN1A | c.358G>C (p.Val120Leu) n.552G>C n.577G>C c.460G>C (p.Val154Leu) c.397G>C (p.Val133Leu) | dbSNP |
| 6 | g.36684459G>T | CA363834537 | CDKN1A | c.358G>T (p.Val120Leu) n.552G>T n.577G>T c.460G>T (p.Val154Leu) c.397G>T (p.Val133Leu) | |
| 6 | g.36684460T>A | CA363834540 | CDKN1A | c.359T>A (p.Val120Glu) n.553T>A n.578T>A c.461T>A (p.Val154Glu) c.398T>A (p.Val133Glu) | dbSNP |
| 6 | g.36684460T>C | CA363834541 | CDKN1A | c.359T>C (p.Val120Ala) n.553T>C n.578T>C c.461T>C (p.Val154Ala) c.398T>C (p.Val133Ala) | |
| 6 | g.36684460T>G | CA363834542 | CDKN1A | c.359T>G (p.Val120Gly) n.553T>G n.578T>G c.461T>G (p.Val154Gly) c.398T>G (p.Val133Gly) | dbSNP |
| 6 | g.36684461G>A | CA450129499 | CDKN1A | c.360G>A (p.Val120=) n.554G>A n.579G>A c.462G>A (p.Val154=) c.399G>A (p.Val133=) | dbSNP |
| 6 | g.36684461G>C | CA450129500 | CDKN1A | c.360G>C (p.Val120=) n.554G>C n.579G>C c.462G>C (p.Val154=) c.399G>C (p.Val133=) | dbSNP |
| 6 | g.36684461G= | CA1621457042 | CDKN1A | c.360G= (p.Val120=) n.554G= n.579G= c.462G= (p.Val154=) c.399G= (p.Val133=) | |
| 6 | g.36684461G>T | CA450129501 | CDKN1A | c.360G>T (p.Val120=) n.554G>T n.579G>T c.462G>T (p.Val154=) c.399G>T (p.Val133=) | |
| 6 | g.36684462C>A | CA363834543 | CDKN1A | c.361C>A (p.Pro121Thr) n.555C>A n.580C>A c.463C>A (p.Pro155Thr) c.400C>A (p.Pro134Thr) | dbSNP |
| 6 | g.36684462C>G | CA363834544 | CDKN1A | c.361C>G (p.Pro121Ala) n.555C>G n.580C>G c.463C>G (p.Pro155Ala) c.400C>G (p.Pro134Ala) | dbSNP |
| 6 | g.36684462C>T | CA363834545 | CDKN1A | c.361C>T (p.Pro121Ser) n.555C>T n.580C>T c.463C>T (p.Pro155Ser) c.400C>T (p.Pro134Ser) | dbSNP gnomAD v4 |
| 6 | g.36684463C>A | CA363834546 | CDKN1A | c.362C>A (p.Pro121His) n.556C>A n.581C>A c.464C>A (p.Pro155His) c.401C>A (p.Pro134His) | dbSNP |
| 6 | g.36684463C= | CA1621457043 | CDKN1A | c.362C= (p.Pro121=) n.556C= n.581C= c.464C= (p.Pro155=) c.401C= (p.Pro134=) | |
| 6 | g.36684463C>G | CA363834547 | CDKN1A | c.362C>G (p.Pro121Arg) n.556C>G n.581C>G c.464C>G (p.Pro155Arg) c.401C>G (p.Pro134Arg) | dbSNP |
| 6 | g.36684463C>T | CA363834548 | CDKN1A | c.362C>T (p.Pro121Leu) n.556C>T n.581C>T c.464C>T (p.Pro155Leu) c.401C>T (p.Pro134Leu) | dbSNP |
| 6 | g.36684464T>A | CA450129502 | CDKN1A | c.363T>A (p.Pro121=) n.557T>A n.582T>A c.465T>A (p.Pro155=) c.402T>A (p.Pro134=) | dbSNP |
| 6 | g.36684464T>C | CA450129503 | CDKN1A | c.363T>C (p.Pro121=) n.557T>C n.582T>C c.465T>C (p.Pro155=) c.402T>C (p.Pro134=) | dbSNP |
| 6 | g.36684464T>G | CA450129504 | CDKN1A | c.363T>G (p.Pro121=) n.557T>G n.582T>G c.465T>G (p.Pro155=) c.402T>G (p.Pro134=) | |
| 6 | g.36684465C>A | CA363834549 | CDKN1A | c.364C>A (p.Arg122Ser) n.558C>A n.583C>A c.466C>A (p.Arg156Ser) c.403C>A (p.Arg135Ser) | dbSNP |
| 6 | g.36684465C= | CA1621457044 | CDKN1A | c.364C= (p.Arg122=) n.558C= n.583C= c.466C= (p.Arg156=) c.403C= (p.Arg135=) | |
| 6 | g.36684465C>G | CA363834550 | CDKN1A | c.364C>G (p.Arg122Gly) n.558C>G n.583C>G c.466C>G (p.Arg156Gly) c.403C>G (p.Arg135Gly) | dbSNP |
| 6 | g.36684465C>T | CA3780391 | CDKN1A | c.364C>T (p.Arg122Cys) n.558C>T n.583C>T c.466C>T (p.Arg156Cys) c.403C>T (p.Arg135Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.36684466G>A | CA3780392 | CDKN1A | c.365G>A (p.Arg122His) n.559G>A n.584G>A c.467G>A (p.Arg156His) c.404G>A (p.Arg135His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.36684466G>C | CA363834552 | CDKN1A | c.365G>C (p.Arg122Pro) n.559G>C n.584G>C c.467G>C (p.Arg156Pro) c.404G>C (p.Arg135Pro) | dbSNP |
| 6 | g.36684466G= | CA1621457045 | CDKN1A | c.365G= (p.Arg122=) n.559G= n.584G= c.467G= (p.Arg156=) c.404G= (p.Arg135=) | |
| 6 | g.36684466G>T | CA363834551 | CDKN1A | c.365G>T (p.Arg122Leu) n.559G>T n.584G>T c.467G>T (p.Arg156Leu) c.404G>T (p.Arg135Leu) | dbSNP |
| 6 | g.36684467C>A | CA450129506 | CDKN1A | c.366C>A (p.Arg122=) n.560C>A n.585C>A c.468C>A (p.Arg156=) c.405C>A (p.Arg135=) | dbSNP |
| 6 | g.36684467C>G | CA450129507 | CDKN1A | c.366C>G (p.Arg122=) n.560C>G n.585C>G c.468C>G (p.Arg156=) c.405C>G (p.Arg135=) | |
| 6 | g.36684467C>T | CA450129505 | CDKN1A | c.366C>T (p.Arg122=) n.560C>T n.585C>T c.468C>T (p.Arg156=) c.405C>T (p.Arg135=) | |
| 6 | g.36684468T>A | CA137423586 | CDKN1A | c.367T>A (p.Ser123Thr) n.561T>A n.586T>A c.469T>A (p.Ser157Thr) c.406T>A (p.Ser136Thr) | dbSNP gnomAD v4 |
| 6 | g.36684468T>C | CA363834553 | CDKN1A | c.367T>C (p.Ser123Pro) n.561T>C n.586T>C c.469T>C (p.Ser157Pro) c.406T>C (p.Ser136Pro) | dbSNP |
| 6 | g.36684468T>G | CA363834554 | CDKN1A | c.367T>G (p.Ser123Ala) n.561T>G n.586T>G c.469T>G (p.Ser157Ala) c.406T>G (p.Ser136Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.36684468T= | CA1621457046 | CDKN1A | c.367T= (p.Ser123=) n.561T= n.586T= c.469T= (p.Ser157=) c.406T= (p.Ser136=) | |
| 6 | g.36684469C>A | CA363834555 | CDKN1A | c.368C>A (p.Ser123Ter) n.562C>A n.587C>A c.470C>A (p.Ser157Ter) c.407C>A (p.Ser136Ter) | dbSNP |
| 6 | g.36684469C= | CA1621457047 | CDKN1A | c.368C= (p.Ser123=) n.562C= n.587C= c.470C= (p.Ser157=) c.407C= (p.Ser136=) | |
| 6 | g.36684469C>G | CA363834556 | CDKN1A | c.368C>G (p.Ser123Ter) n.562C>G n.587C>G c.470C>G (p.Ser157Ter) c.407C>G (p.Ser136Ter) | dbSNP |
| 6 | g.36684469C>T | CA363834557 | CDKN1A | c.368C>T (p.Ser123Leu) n.562C>T n.587C>T c.470C>T (p.Ser157Leu) c.407C>T (p.Ser136Leu) | dbSNP |
| 6 | g.36684470A= | CA1621457048 | CDKN1A | c.369A= (p.Ser123=) n.563A= n.588A= c.471A= (p.Ser157=) c.408A= (p.Ser136=) | |
| 6 | g.36684470A>C | CA3780393 | CDKN1A | c.369A>C (p.Ser123=) n.563A>C n.588A>C c.471A>C (p.Ser157=) c.408A>C (p.Ser136=) | dbSNP ExAC gnomAD v2 |
| 6 | g.36684470A>G | CA450129508 | CDKN1A | c.369A>G (p.Ser123=) n.563A>G n.588A>G c.471A>G (p.Ser157=) c.408A>G (p.Ser136=) | |
| 6 | g.36684470A>T | CA450129509 | CDKN1A | c.369A>T (p.Ser123=) n.563A>T n.588A>T c.471A>T (p.Ser157=) c.408A>T (p.Ser136=) | |
| 6 | g.36684470_36684471del | CA2678467009 | CDKN1A | c.369_370del (p.Glu125AlafsTer3) n.563_564del n.588_589del c.471_472del (p.Glu159AlafsTer3) c.408_409del (p.Glu138AlafsTer3) | gnomAD v4 |
| 6 | g.36684471G>A | CA363834558 | CDKN1A | c.370G>A (p.Gly124Arg) n.564G>A n.589G>A c.472G>A (p.Gly158Arg) c.409G>A (p.Gly137Arg) | dbSNP gnomAD v4 |
| 6 | g.36684471G>C | CA363834559 | CDKN1A | c.370G>C (p.Gly124Arg) n.564G>C n.589G>C c.472G>C (p.Gly158Arg) c.409G>C (p.Gly137Arg) | |
| 6 | g.36684471G>T | CA363834560 | CDKN1A | c.370G>T (p.Gly124Trp) n.564G>T n.589G>T c.472G>T (p.Gly158Trp) c.409G>T (p.Gly137Trp) | |
| 6 | g.36684472G>A | CA3780394 | CDKN1A | c.371G>A (p.Gly124Glu) n.565G>A n.590G>A c.473G>A (p.Gly158Glu) c.410G>A (p.Gly137Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.36684472G>C | CA363834561 | CDKN1A | c.371G>C (p.Gly124Ala) n.565G>C n.590G>C c.473G>C (p.Gly158Ala) c.410G>C (p.Gly137Ala) | |
| 6 | g.36684472G= | CA1621457049 | CDKN1A | c.371G= (p.Gly124=) n.565G= n.590G= c.473G= (p.Gly158=) c.410G= (p.Gly137=) | |
| 6 | g.36684472G>T | CA363834562 | CDKN1A | c.371G>T (p.Gly124Val) n.565G>T n.590G>T c.473G>T (p.Gly158Val) c.410G>T (p.Gly137Val) | dbSNP |
| 6 | g.36684473G>A | CA450129510 | CDKN1A | c.372G>A (p.Gly124=) n.566G>A n.591G>A c.474G>A (p.Gly158=) c.411G>A (p.Gly137=) | dbSNP |
| 6 | g.36684473G>C | CA450129511 | CDKN1A | c.372G>C (p.Gly124=) n.566G>C n.591G>C c.474G>C (p.Gly158=) c.411G>C (p.Gly137=) | |
| 6 | g.36684473G>T | CA450129512 | CDKN1A | c.372G>T (p.Gly124=) n.566G>T n.591G>T c.474G>T (p.Gly158=) c.411G>T (p.Gly137=) | |
| 6 | g.36684474G>A | CA363834563 | CDKN1A | c.373G>A (p.Glu125Lys) n.567G>A n.592G>A c.475G>A (p.Glu159Lys) c.412G>A (p.Glu138Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.36684474G>C | CA363834565 | CDKN1A | c.373G>C (p.Glu125Gln) n.567G>C n.592G>C c.475G>C (p.Glu159Gln) c.412G>C (p.Glu138Gln) | |
| 6 | g.36684474G= | CA1621457050 | CDKN1A | c.373G= (p.Glu125=) n.567G= n.592G= c.475G= (p.Glu159=) c.412G= (p.Glu138=) | |
| 6 | g.36684474G>T | CA363834564 | CDKN1A | c.373G>T (p.Glu125Ter) n.567G>T n.592G>T c.475G>T (p.Glu159Ter) c.412G>T (p.Glu138Ter) | |
| 6 | g.36684475A>C | CA363834566 | CDKN1A | c.374A>C (p.Glu125Ala) n.568A>C n.593A>C c.476A>C (p.Glu159Ala) c.413A>C (p.Glu138Ala) | |
| 6 | g.36684475A>G | CA363834568 | CDKN1A | c.374A>G (p.Glu125Gly) n.568A>G n.593A>G c.476A>G (p.Glu159Gly) c.413A>G (p.Glu138Gly) | dbSNP gnomAD v4 |
| 6 | g.36684475A>T | CA363834567 | CDKN1A | c.374A>T (p.Glu125Val) n.568A>T n.593A>T c.476A>T (p.Glu159Val) c.413A>T (p.Glu138Val) | |
| 6 | g.36684476G>A | CA450129513 | CDKN1A | c.375G>A (p.Glu125=) n.569G>A n.594G>A c.477G>A (p.Glu159=) c.414G>A (p.Glu138=) | dbSNP |
| 6 | g.36684476G>C | CA363834569 | CDKN1A | c.375G>C (p.Glu125Asp) n.569G>C n.594G>C c.477G>C (p.Glu159Asp) c.414G>C (p.Glu138Asp) | |
| 6 | g.36684476G>T | CA363834570 | CDKN1A | c.375G>T (p.Glu125Asp) n.569G>T n.594G>T c.477G>T (p.Glu159Asp) c.414G>T (p.Glu138Asp) | |
| 6 | g.36684477C>A | CA363834571 | CDKN1A | c.376C>A (p.Gln126Lys) n.570C>A n.595C>A c.478C>A (p.Gln160Lys) c.415C>A (p.Gln139Lys) | dbSNP |
| 6 | g.36684477C= | CA1621457051 | CDKN1A | c.376C= (p.Gln126=) n.570C= n.595C= c.478C= (p.Gln160=) c.415C= (p.Gln139=) | |
| 6 | g.36684477C>G | CA363834572 | CDKN1A | c.376C>G (p.Gln126Glu) n.570C>G n.595C>G c.478C>G (p.Gln160Glu) c.415C>G (p.Gln139Glu) | dbSNP |
| 6 | g.36684477C>T | CA363834573 | CDKN1A | c.376C>T (p.Gln126Ter) n.570C>T n.595C>T c.478C>T (p.Gln160Ter) c.415C>T (p.Gln139Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.36684478A= | CA1621457052 | CDKN1A | c.377A= (p.Gln126=) n.571A= n.596A= c.479A= (p.Gln160=) c.416A= (p.Gln139=) | |
| 6 | g.36684478A>C | CA363834574 | CDKN1A | c.377A>C (p.Gln126Pro) n.571A>C n.596A>C c.479A>C (p.Gln160Pro) c.416A>C (p.Gln139Pro) | |
| 6 | g.36684478A>G | CA363834575 | CDKN1A | c.377A>G (p.Gln126Arg) n.571A>G n.596A>G c.479A>G (p.Gln160Arg) c.416A>G (p.Gln139Arg) | dbSNP |
| 6 | g.36684478A>T | CA363834576 | CDKN1A | c.377A>T (p.Gln126Leu) n.571A>T n.596A>T c.479A>T (p.Gln160Leu) c.416A>T (p.Gln139Leu) | |
| 6 | g.36684478_36684479insCAA | CA3780395 | CDKN1A | c.377_378insCAA (p.Gln126delinsHisLys) n.571_572insCAA n.596_597insCAA c.479_480insCAA (p.Gln160delinsHisLys) c.416_417insCAA (p.Gln139delinsHisLys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.36684478_36684479insCAAGGG | CA1621457053 | CDKN1A | c.377_378insCAAGGG (p.Gln126delinsHisLysGly) n.571_572insCAAGGG n.596_597insCAAGGG c.479_480insCAAGGG (p.Gln160delinsHisLysGly) c.416_417insCAAGGG (p.Gln139delinsHisLysGly) | dbSNP |
| 6 | g.36684479G>A | CA450129514 | CDKN1A | c.378G>A (p.Gln126=) n.572G>A n.597G>A c.480G>A (p.Gln160=) c.417G>A (p.Gln139=) | dbSNP |
| 6 | g.36684479G>C | CA363834577 | CDKN1A | c.378G>C (p.Gln126His) n.572G>C n.597G>C c.480G>C (p.Gln160His) c.417G>C (p.Gln139His) | |
| 6 | g.36684479G= | CA1621457054 | CDKN1A | c.378G= (p.Gln126=) n.572G= n.597G= c.480G= (p.Gln160=) c.417G= (p.Gln139=) | |
| 6 | g.36684479G>T | CA363834578 | CDKN1A | c.378G>T (p.Gln126His) n.572G>T n.597G>T c.480G>T (p.Gln160His) c.417G>T (p.Gln139His) | gnomAD v4 |
| 6 | g.36684480G>A | CA363834581 | CDKN1A | c.379G>A (p.Ala127Thr) n.573G>A n.598G>A c.481G>A (p.Ala161Thr) c.418G>A (p.Ala140Thr) | dbSNP gnomAD v2 |
| 6 | g.36684480G>C | CA363834579 | CDKN1A | c.379G>C (p.Ala127Pro) n.573G>C n.598G>C c.481G>C (p.Ala161Pro) c.418G>C (p.Ala140Pro) | dbSNP |
| 6 | g.36684480G= | CA1621457055 | CDKN1A | c.379G= (p.Ala127=) n.573G= n.598G= c.481G= (p.Ala161=) c.418G= (p.Ala140=) | |
| 6 | g.36684480G>T | CA363834580 | CDKN1A | c.379G>T (p.Ala127Ser) n.573G>T n.598G>T c.481G>T (p.Ala161Ser) c.418G>T (p.Ala140Ser) | gnomAD v4 |
| 6 | g.36684480_36684481insGAG | CA3780396 | CDKN1A | c.379_380insGAG (p.Gln126_Ala127insGly) n.573_574insGAG n.598_599insGAG c.481_482insGAG (p.Gln160_Ala161insGly) c.418_419insGAG (p.Gln139_Ala140insGly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.36684481C>A | CA363834582 | CDKN1A | c.380C>A (p.Ala127Asp) n.574C>A n.599C>A c.482C>A (p.Ala161Asp) c.419C>A (p.Ala140Asp) | |
| 6 | g.36684481C>G | CA363834583 | CDKN1A | c.380C>G (p.Ala127Gly) n.574C>G n.599C>G c.482C>G (p.Ala161Gly) c.419C>G (p.Ala140Gly) | |
| 6 | g.36684481C>T | CA363834584 | CDKN1A | c.380C>T (p.Ala127Val) n.574C>T n.599C>T c.482C>T (p.Ala161Val) c.419C>T (p.Ala140Val) | |
| 6 | g.36684482T>A | CA450129517 | CDKN1A | c.381T>A (p.Ala127=) n.575T>A n.600T>A c.483T>A (p.Ala161=) c.420T>A (p.Ala140=) | |
| 6 | g.36684482T>C | CA450129516 | CDKN1A | c.381T>C (p.Ala127=) n.575T>C n.600T>C c.483T>C (p.Ala161=) c.420T>C (p.Ala140=) | dbSNP COSMIC COSMIC |
| 6 | g.36684482T>G | CA450129515 | CDKN1A | c.381T>G (p.Ala127=) n.575T>G n.600T>G c.483T>G (p.Ala161=) c.420T>G (p.Ala140=) | |
| 6 | g.36684482T= | CA1621457056 | CDKN1A | c.381T= (p.Ala127=) n.575T= n.600T= c.483T= (p.Ala161=) c.420T= (p.Ala140=) | |
| 6 | g.36684483G>A | CA363834585 | CDKN1A | c.382G>A (p.Glu128Lys) n.576G>A n.601G>A c.484G>A (p.Glu162Lys) c.421G>A (p.Glu141Lys) | dbSNP gnomAD v4 |
| 6 | g.36684483G>C | CA363834586 | CDKN1A | c.382G>C (p.Glu128Gln) n.576G>C n.601G>C c.484G>C (p.Glu162Gln) c.421G>C (p.Glu141Gln) | |
| 6 | g.36684483G>T | CA363834587 | CDKN1A | c.382G>T (p.Glu128Ter) n.576G>T n.601G>T c.484G>T (p.Glu162Ter) c.421G>T (p.Glu141Ter) | |
| 6 | g.36684484A>C | CA363834588 | CDKN1A | c.383A>C (p.Glu128Ala) n.577A>C n.602A>C c.485A>C (p.Glu162Ala) c.422A>C (p.Glu141Ala) | |
| 6 | g.36684484A>G | CA363834589 | CDKN1A | c.383A>G (p.Glu128Gly) n.577A>G n.602A>G c.485A>G (p.Glu162Gly) c.422A>G (p.Glu141Gly) | |
| 6 | g.36684484A>T | CA363834590 | CDKN1A | c.383A>T (p.Glu128Val) n.577A>T n.602A>T c.485A>T (p.Glu162Val) c.422A>T (p.Glu141Val) | |
| 6 | g.36684485A>C | CA363834591 | CDKN1A | c.384A>C (p.Glu128Asp) n.578A>C n.603A>C c.486A>C (p.Glu162Asp) c.423A>C (p.Glu141Asp) | |
| 6 | g.36684485A>G | CA450129518 | CDKN1A | c.384A>G (p.Glu128=) n.578A>G n.603A>G c.486A>G (p.Glu162=) c.423A>G (p.Glu141=) | |
| 6 | g.36684485A>T | CA363834592 | CDKN1A | c.384A>T (p.Glu128Asp) n.578A>T n.603A>T c.486A>T (p.Glu162Asp) c.423A>T (p.Glu141Asp) | |
| 6 | g.36684486G>A | CA363834596 | CDKN1A | c.385G>A (p.Gly129Arg) n.579G>A n.604G>A c.487G>A (p.Gly163Arg) c.424G>A (p.Gly142Arg) | |
| 6 | g.36684486G>C | CA363834595 | CDKN1A | c.385G>C (p.Gly129Arg) n.579G>C n.604G>C c.487G>C (p.Gly163Arg) c.424G>C (p.Gly142Arg) | |
| 6 | g.36684486G>T | CA363834593 | CDKN1A | c.385G>T (p.Gly129Trp) n.579G>T n.604G>T c.487G>T (p.Gly163Trp) c.424G>T (p.Gly142Trp) | |
| 6 | g.36684487G>A | CA363834599 | CDKN1A | c.386G>A (p.Gly129Glu) n.580G>A n.605G>A c.488G>A (p.Gly163Glu) c.425G>A (p.Gly142Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.36684487G>C | CA363834597 | CDKN1A | c.386G>C (p.Gly129Ala) n.580G>C n.605G>C c.488G>C (p.Gly163Ala) c.425G>C (p.Gly142Ala) | |
| 6 | g.36684487G= | CA1621457057 | CDKN1A | c.386G= (p.Gly129=) n.580G= n.605G= c.488G= (p.Gly163=) c.425G= (p.Gly142=) | |
| 6 | g.36684487G>T | CA363834598 | CDKN1A | c.386G>T (p.Gly129Val) n.580G>T n.605G>T c.488G>T (p.Gly163Val) c.425G>T (p.Gly142Val) | |
| 6 | g.36684488G>A | CA450129519 | CDKN1A | c.387G>A (p.Gly129=) n.581G>A n.606G>A c.489G>A (p.Gly163=) c.426G>A (p.Gly142=) | dbSNP gnomAD v4 |
| 6 | g.36684488G>C | CA450129520 | CDKN1A | c.387G>C (p.Gly129=) n.581G>C n.606G>C c.489G>C (p.Gly163=) c.426G>C (p.Gly142=) | |
| 6 | g.36684488G= | CA1621457058 | CDKN1A | c.387G= (p.Gly129=) n.581G= n.606G= c.489G= (p.Gly163=) c.426G= (p.Gly142=) | |
| 6 | g.36684488G>T | CA450129521 | CDKN1A | c.387G>T (p.Gly129=) n.581G>T n.606G>T c.489G>T (p.Gly163=) c.426G>T (p.Gly142=) | |
| 6 | g.36684489T>A | CA363834600 | CDKN1A | c.388T>A (p.Ser130Thr) n.582T>A n.607T>A c.490T>A (p.Ser164Thr) c.427T>A (p.Ser143Thr) | |
| 6 | g.36684489T>C | CA363834601 | CDKN1A | c.388T>C (p.Ser130Pro) n.582T>C n.607T>C c.490T>C (p.Ser164Pro) c.427T>C (p.Ser143Pro) | |
| 6 | g.36684489T>G | CA363834602 | CDKN1A | c.388T>G (p.Ser130Ala) n.582T>G n.607T>G c.490T>G (p.Ser164Ala) c.427T>G (p.Ser143Ala) | dbSNP |
| 6 | g.36684489T= | CA1621457059 | CDKN1A | c.388T= (p.Ser130=) n.582T= n.607T= c.490T= (p.Ser164=) c.427T= (p.Ser143=) | |
| 6 | g.36684490C>A | CA363834605 | CDKN1A | c.389C>A (p.Ser130Tyr) n.583C>A n.608C>A c.491C>A (p.Ser164Tyr) c.428C>A (p.Ser143Tyr) | |
| 6 | g.36684490C= | CA1621457060 | CDKN1A | c.389C= (p.Ser130=) n.583C= n.608C= c.491C= (p.Ser164=) c.428C= (p.Ser143=) | |
| 6 | g.36684490C>G | CA363834604 | CDKN1A | c.389C>G (p.Ser130Cys) n.583C>G n.608C>G c.491C>G (p.Ser164Cys) c.428C>G (p.Ser143Cys) | dbSNP gnomAD v4 |
| 6 | g.36684490C>T | CA363834603 | CDKN1A | c.389C>T (p.Ser130Phe) n.583C>T n.608C>T c.491C>T (p.Ser164Phe) c.428C>T (p.Ser143Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.36684491C>A | CA450129522 | CDKN1A | c.390C>A (p.Ser130=) n.584C>A n.609C>A c.492C>A (p.Ser164=) c.429C>A (p.Ser143=) | |
| 6 | g.36684491C>G | CA450129523 | CDKN1A | c.390C>G (p.Ser130=) n.584C>G n.609C>G c.492C>G (p.Ser164=) c.429C>G (p.Ser143=) | |
| 6 | g.36684491C>T | CA450129524 | CDKN1A | c.390C>T (p.Ser130=) n.584C>T n.609C>T c.492C>T (p.Ser164=) c.429C>T (p.Ser143=) | |
| 6 | g.36684492C>A | CA363834606 | CDKN1A | c.391C>A (p.Pro131Thr) n.585C>A n.610C>A c.493C>A (p.Pro165Thr) c.430C>A (p.Pro144Thr) | |
| 6 | g.36684492C>G | CA363834607 | CDKN1A | c.391C>G (p.Pro131Ala) n.585C>G n.610C>G c.493C>G (p.Pro165Ala) c.430C>G (p.Pro144Ala) | |
| 6 | g.36684492C>T | CA363834608 | CDKN1A | c.391C>T (p.Pro131Ser) n.585C>T n.610C>T c.493C>T (p.Pro165Ser) c.430C>T (p.Pro144Ser) | |
| 6 | g.36684493C>A | CA363834609 | CDKN1A | c.392C>A (p.Pro131Gln) n.586C>A n.611C>A c.494C>A (p.Pro165Gln) c.431C>A (p.Pro144Gln) | |
| 6 | g.36684493C= | CA1621457061 | CDKN1A | c.392C= (p.Pro131=) n.586C= n.611C= c.494C= (p.Pro165=) c.431C= (p.Pro144=) | |
| 6 | g.36684493C>G | CA363834610 | CDKN1A | c.392C>G (p.Pro131Arg) n.586C>G n.611C>G c.494C>G (p.Pro165Arg) c.431C>G (p.Pro144Arg) | |
| 6 | g.36684493C>T | CA3780397 | CDKN1A | c.392C>T (p.Pro131Leu) n.586C>T n.611C>T c.494C>T (p.Pro165Leu) c.431C>T (p.Pro144Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.36684494A>C | CA450129150 | CDKN1A | c.393A>C (p.Pro131=) n.587A>C n.612A>C c.495A>C (p.Pro165=) c.432A>C (p.Pro144=) | |
| 6 | g.36684494A>G | CA450129151 | CDKN1A | c.393A>G (p.Pro131=) n.587A>G n.612A>G c.495A>G (p.Pro165=) c.432A>G (p.Pro144=) | |
| 6 | g.36684494A>T | CA450129152 | CDKN1A | c.393A>T (p.Pro131=) n.587A>T n.612A>T c.495A>T (p.Pro165=) c.432A>T (p.Pro144=) | |
| 6 | g.36684495G>A | CA363834611 | CDKN1A | c.394G>A (p.Gly132Ser) n.588G>A n.613G>A c.496G>A (p.Gly166Ser) c.433G>A (p.Gly145Ser) | |
| 6 | g.36684495G>C | CA363834613 | CDKN1A | c.394G>C (p.Gly132Arg) n.588G>C n.613G>C c.496G>C (p.Gly166Arg) c.433G>C (p.Gly145Arg) | gnomAD v4 |
| 6 | g.36684495G>T | CA363834612 | CDKN1A | c.394G>T (p.Gly132Cys) n.588G>T n.613G>T c.496G>T (p.Gly166Cys) c.433G>T (p.Gly145Cys) | COSMIC |
| 6 | g.36684497_36684505del | CA2678467014 | CDKN1A | c.396_404del (p.Gly133_Gly135del) n.590_598del c.498_506del (p.Gly167_Gly169del) c.435_443del (p.Gly146_Gly148del) | gnomAD v4 |
| 6 | g.36684496G>A | CA363834614 | CDKN1A | c.395G>A (p.Gly132Asp) n.589G>A n.614G>A c.497G>A (p.Gly166Asp) c.434G>A (p.Gly145Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.36684496G>C | CA3780398 | CDKN1A | c.395G>C (p.Gly132Ala) n.589G>C n.614G>C c.497G>C (p.Gly166Ala) c.434G>C (p.Gly145Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.36684496G= | CA1621457062 | CDKN1A | c.395G= (p.Gly132=) n.589G= n.614G= c.497G= (p.Gly166=) c.434G= (p.Gly145=) | |
| 6 | g.36684496G>T | CA363834615 | CDKN1A | c.395G>T (p.Gly132Val) n.589G>T n.614G>T c.497G>T (p.Gly166Val) c.434G>T (p.Gly145Val) | |
| 6 | g.36684497T>A | CA450129153 | CDKN1A | c.396T>A (p.Gly132=) n.590T>A n.615T>A c.498T>A (p.Gly166=) c.435T>A (p.Gly145=) | dbSNP |
| 6 | g.36684497T>C | CA450129155 | CDKN1A | c.396T>C (p.Gly132=) n.590T>C n.615T>C c.498T>C (p.Gly166=) c.435T>C (p.Gly145=) | |
| 6 | g.36684497T>G | CA450129154 | CDKN1A | c.396T>G (p.Gly132=) n.590T>G n.615T>G c.498T>G (p.Gly166=) c.435T>G (p.Gly145=) | |
| 6 | g.36684498G>A | CA363834616 | CDKN1A | c.397G>A (p.Gly133Arg) n.591G>A n.616G>A c.499G>A (p.Gly167Arg) c.436G>A (p.Gly146Arg) | dbSNP gnomAD v4 |
| 6 | g.36684498G>C | CA363834617 | CDKN1A | c.397G>C (p.Gly133Arg) n.591G>C n.616G>C c.499G>C (p.Gly167Arg) c.436G>C (p.Gly146Arg) | |
| 6 | g.36684498G>T | CA363834618 | CDKN1A | c.397G>T (p.Gly133Ter) n.591G>T n.616G>T c.499G>T (p.Gly167Ter) c.436G>T (p.Gly146Ter) | |
| 6 | g.36684499G>A | CA363834619 | CDKN1A | c.398G>A (p.Gly133Glu) n.592G>A c.500G>A (p.Gly167Glu) c.437G>A (p.Gly146Glu) | gnomAD v4 |
| 6 | g.36684499G>C | CA363834620 | CDKN1A | c.398G>C (p.Gly133Ala) n.592G>C c.500G>C (p.Gly167Ala) c.437G>C (p.Gly146Ala) | |
| 6 | g.36684499G= | CA1621457063 | CDKN1A | c.398G= (p.Gly133=) n.592G= c.500G= (p.Gly167=) c.437G= (p.Gly146=) | |
| 6 | g.36684499G>T | CA3780399 | CDKN1A | c.398G>T (p.Gly133Val) n.592G>T c.500G>T (p.Gly167Val) c.437G>T (p.Gly146Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.36684500A>C | CA450129156 | CDKN1A | c.399A>C (p.Gly133=) n.593A>C c.501A>C (p.Gly167=) c.438A>C (p.Gly146=) | |
| 6 | g.36684500A>G | CA450129158 | CDKN1A | c.399A>G (p.Gly133=) n.593A>G c.501A>G (p.Gly167=) c.438A>G (p.Gly146=) | dbSNP |
| 6 | g.36684500A>T | CA450129157 | CDKN1A | c.399A>T (p.Gly133=) n.593A>T c.501A>T (p.Gly167=) c.438A>T (p.Gly146=) | dbSNP |
| 6 | g.36684501C>A | CA363834621 | CDKN1A | c.400C>A (p.Pro134Thr) n.594C>A c.502C>A (p.Pro168Thr) c.439C>A (p.Pro147Thr) | |
| 6 | g.36684501C= | CA1621457064 | CDKN1A | c.400C= (p.Pro134=) n.594C= c.502C= (p.Pro168=) c.439C= (p.Pro147=) | |
| 6 | g.36684501C>G | CA363834622 | CDKN1A | c.400C>G (p.Pro134Ala) n.594C>G c.502C>G (p.Pro168Ala) c.439C>G (p.Pro147Ala) | |
| 6 | g.36684501C>T | CA363834623 | CDKN1A | c.400C>T (p.Pro134Ser) n.594C>T c.502C>T (p.Pro168Ser) c.439C>T (p.Pro147Ser) | dbSNP gnomAD v2 |
| 6 | g.36684502C>A | CA363834625 | CDKN1A | c.401C>A (p.Pro134His) n.595C>A c.503C>A (p.Pro168His) c.440C>A (p.Pro147His) | |
| 6 | g.36684502C= | CA1621457065 | CDKN1A | c.401C= (p.Pro134=) n.595C= c.503C= (p.Pro168=) c.440C= (p.Pro147=) | |
| 6 | g.36684502C>G | CA363834624 | CDKN1A | c.401C>G (p.Pro134Arg) n.595C>G c.503C>G (p.Pro168Arg) c.440C>G (p.Pro147Arg) | |
| 6 | g.36684502C>T | CA3780400 | CDKN1A | c.401C>T (p.Pro134Leu) n.595C>T c.503C>T (p.Pro168Leu) c.440C>T (p.Pro147Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.36684503T>A | CA450129159 | CDKN1A | c.402T>A (p.Pro134=) n.596T>A c.504T>A (p.Pro168=) c.441T>A (p.Pro147=) | |
| 6 | g.36684503T>C | CA450129160 | CDKN1A | c.402T>C (p.Pro134=) n.596T>C c.504T>C (p.Pro168=) c.441T>C (p.Pro147=) | |
| 6 | g.36684503T>G | CA450129161 | CDKN1A | c.402T>G (p.Pro134=) n.596T>G c.504T>G (p.Pro168=) c.441T>G (p.Pro147=) | |
| 6 | g.36684504G>A | CA363834626 | CDKN1A | c.403G>A (p.Gly135Arg) n.597G>A c.505G>A (p.Gly169Arg) c.442G>A (p.Gly148Arg) | |
| 6 | g.36684504G>C | CA363834627 | CDKN1A | c.403G>C (p.Gly135Arg) n.597G>C c.505G>C (p.Gly169Arg) c.442G>C (p.Gly148Arg) | |
| 6 | g.36684504G>T | CA363834628 | CDKN1A | c.403G>T (p.Gly135Ter) n.597G>T c.505G>T (p.Gly169Ter) c.442G>T (p.Gly148Ter) | |
| 6 | g.36684505G>A | CA363834629 | CDKN1A | c.404G>A (p.Gly135Glu) n.598G>A c.506G>A (p.Gly169Glu) c.443G>A (p.Gly148Glu) | gnomAD v4 |
| 6 | g.36684505G>C | CA363834630 | CDKN1A | c.404G>C (p.Gly135Ala) n.598G>C c.506G>C (p.Gly169Ala) c.443G>C (p.Gly148Ala) | |
| 6 | g.36684505G>T | CA363834631 | CDKN1A | c.404G>T (p.Gly135Val) n.598G>T c.506G>T (p.Gly169Val) c.443G>T (p.Gly148Val) | |
| 6 | g.36684506A>C | CA450129162 | CDKN1A | c.405A>C (p.Gly135=) n.599A>C c.507A>C (p.Gly169=) c.444A>C (p.Gly148=) | |
| 6 | g.36684506A>G | CA450129163 | CDKN1A | c.405A>G (p.Gly135=) n.599A>G c.507A>G (p.Gly169=) c.444A>G (p.Gly148=) | |
| 6 | g.36684506A>T | CA450129164 | CDKN1A | c.405A>T (p.Gly135=) n.599A>T c.507A>T (p.Gly169=) c.444A>T (p.Gly148=) | |
| 6 | g.36684507G>A | CA363834632 | CDKN1A | c.406G>A (p.Asp136Asn) n.600G>A c.508G>A (p.Asp170Asn) c.445G>A (p.Asp149Asn) | gnomAD v4 |
| 6 | g.36684507G>C | CA363834633 | CDKN1A | c.406G>C (p.Asp136His) n.600G>C c.508G>C (p.Asp170His) c.445G>C (p.Asp149His) | COSMIC |
| 6 | g.36684507G>T | CA363834634 | CDKN1A | c.406G>T (p.Asp136Tyr) n.600G>T c.508G>T (p.Asp170Tyr) c.445G>T (p.Asp149Tyr) | gnomAD v4 |
| 6 | g.36684508A= | CA1621457066 | CDKN1A | c.407A= (p.Asp136=) n.601A= c.509A= (p.Asp170=) c.446A= (p.Asp149=) | |
| 6 | g.36684508A>C | CA363834635 | CDKN1A | c.407A>C (p.Asp136Ala) n.601A>C c.509A>C (p.Asp170Ala) c.446A>C (p.Asp149Ala) | |
| 6 | g.36684508A>G | CA363834636 | CDKN1A | c.407A>G (p.Asp136Gly) n.601A>G c.509A>G (p.Asp170Gly) c.446A>G (p.Asp149Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.36684508A>T | CA363834637 | CDKN1A | c.407A>T (p.Asp136Val) n.601A>T c.509A>T (p.Asp170Val) c.446A>T (p.Asp149Val) | |
| 6 | g.36684509C>A | CA363834638 | CDKN1A | c.408C>A (p.Asp136Glu) n.602C>A c.510C>A (p.Asp170Glu) c.447C>A (p.Asp149Glu) | |
| 6 | g.36684509C>G | CA363834639 | CDKN1A | c.408C>G (p.Asp136Glu) n.602C>G c.510C>G (p.Asp170Glu) c.447C>G (p.Asp149Glu) | |
| 6 | g.36684509C>T | CA450129165 | CDKN1A | c.408C>T (p.Asp136=) n.602C>T c.510C>T (p.Asp170=) c.447C>T (p.Asp149=) | |
| 6 | g.36684509_36684510delinsTA | CA645545327 | CDKN1A | c.408_409delinsTA (p.Ser137Thr) n.602_603delinsTA c.510_511delinsTA (p.Ser171Thr) c.447_448delinsTA (p.Ser150Thr) | COSMIC COSMIC |
| 6 | g.36684512_36684513del | CA2538009745 | CDKN1A | c.411_412del (p.Gln138GlyfsTer?) c.513_514del (p.Gln172GlyfsTer?) c.450_451del (p.Gln151GlyfsTer?) c.411_412del (p.Gln138GlyfsTer21) | |
| 6 | g.36684510T>A | CA363834642 | CDKN1A | c.409T>A (p.Ser137Thr) n.603T>A c.511T>A (p.Ser171Thr) c.448T>A (p.Ser150Thr) | |
| 6 | g.36684510T>C | CA363834641 | CDKN1A | c.409T>C (p.Ser137Pro) n.603T>C c.511T>C (p.Ser171Pro) c.448T>C (p.Ser150Pro) | gnomAD v4 |
| 6 | g.36684510T>G | CA363834640 | CDKN1A | c.409T>G (p.Ser137Ala) n.603T>G c.511T>G (p.Ser171Ala) c.448T>G (p.Ser150Ala) | |
| 6 | g.36684511C>A | CA363834643 | CDKN1A | c.410C>A (p.Ser137Tyr) n.604C>A c.512C>A (p.Ser171Tyr) c.449C>A (p.Ser150Tyr) | dbSNP |
| 6 | g.36684511C>G | CA363834644 | CDKN1A | c.410C>G (p.Ser137Cys) n.604C>G c.512C>G (p.Ser171Cys) c.449C>G (p.Ser150Cys) | |
| 6 | g.36684511C>T | CA363834645 | CDKN1A | c.410C>T (p.Ser137Phe) n.604C>T c.512C>T (p.Ser171Phe) c.449C>T (p.Ser150Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.36684512T>A | CA450129166 | CDKN1A | c.411T>A (p.Ser137=) c.513T>A (p.Ser171=) c.450T>A (p.Ser150=) | |
| 6 | g.36684512T>C | CA450129168 | CDKN1A | c.411T>C (p.Ser137=) c.513T>C (p.Ser171=) c.450T>C (p.Ser150=) | |
| 6 | g.36684512T>G | CA450129167 | CDKN1A | c.411T>G (p.Ser137=) c.513T>G (p.Ser171=) c.450T>G (p.Ser150=) | |
| 6 | g.36684513C>A | CA363834646 | CDKN1A | c.412C>A (p.Gln138Lys) c.514C>A (p.Gln172Lys) c.451C>A (p.Gln151Lys) | |
| 6 | g.36684513C>G | CA363834647 | CDKN1A | c.412C>G (p.Gln138Glu) c.514C>G (p.Gln172Glu) c.451C>G (p.Gln151Glu) | gnomAD v4 COSMIC |
| 6 | g.36684513C>T | CA363834648 | CDKN1A | c.412C>T (p.Gln138Ter) c.514C>T (p.Gln172Ter) c.451C>T (p.Gln151Ter) | |
| 6 | g.36684514A>C | CA363834649 | CDKN1A | c.413A>C (p.Gln138Pro) c.515A>C (p.Gln172Pro) c.452A>C (p.Gln151Pro) | |
| 6 | g.36684514A>G | CA363834650 | CDKN1A | c.413A>G (p.Gln138Arg) c.515A>G (p.Gln172Arg) c.452A>G (p.Gln151Arg) | dbSNP |
| 6 | g.36684514A>T | CA363834651 | CDKN1A | c.413A>T (p.Gln138Leu) c.515A>T (p.Gln172Leu) c.452A>T (p.Gln151Leu) | |
| 6 | g.36684515G>A | CA450129169 | CDKN1A | c.414G>A (p.Gln138=) c.516G>A (p.Gln172=) c.453G>A (p.Gln151=) | |
| 6 | g.36684515G>C | CA363834652 | CDKN1A | c.414G>C (p.Gln138His) c.516G>C (p.Gln172His) c.453G>C (p.Gln151His) | |
| 6 | g.36684515G>T | CA363834653 | CDKN1A | c.414G>T (p.Gln138His) c.516G>T (p.Gln172His) c.453G>T (p.Gln151His) | |
| 6 | g.36684516G>A | CA363834654 | CDKN1A | c.415G>A (p.Gly139Ser) c.517G>A (p.Gly173Ser) c.454G>A (p.Gly152Ser) | |
| 6 | g.36684516G>C | CA363834655 | CDKN1A | c.415G>C (p.Gly139Arg) c.517G>C (p.Gly173Arg) c.454G>C (p.Gly152Arg) | dbSNP gnomAD v4 |
| 6 | g.36684516G= | CA1621457067 | CDKN1A | c.415G= (p.Gly139=) c.517G= (p.Gly173=) c.454G= (p.Gly152=) | |
| 6 | g.36684516G>T | CA363834656 | CDKN1A | c.415G>T (p.Gly139Cys) c.517G>T (p.Gly173Cys) c.454G>T (p.Gly152Cys) | gnomAD v4 |
| 6 | g.36684517G>A | CA363834658 | CDKN1A | c.416G>A (p.Gly139Asp) c.518G>A (p.Gly173Asp) c.455G>A (p.Gly152Asp) | |
| 6 | g.36684517G>C | CA363834659 | CDKN1A | c.416G>C (p.Gly139Ala) c.518G>C (p.Gly173Ala) c.455G>C (p.Gly152Ala) | |
| 6 | g.36684517G= | CA1621457068 | CDKN1A | c.416G= (p.Gly139=) c.518G= (p.Gly173=) c.455G= (p.Gly152=) | |
| 6 | g.36684517G>T | CA363834657 | CDKN1A | c.416G>T (p.Gly139Val) c.518G>T (p.Gly173Val) c.455G>T (p.Gly152Val) | dbSNP |
| 6 | g.36684518T>A | CA450129173 | CDKN1A | c.417T>A (p.Gly139=) c.519T>A (p.Gly173=) c.456T>A (p.Gly152=) | dbSNP |
| 6 | g.36684518T>C | CA450129174 | CDKN1A | c.417T>C (p.Gly139=) c.519T>C (p.Gly173=) c.456T>C (p.Gly152=) | dbSNP |
| 6 | g.36684518T>G | CA450129175 | CDKN1A | c.417T>G (p.Gly139=) c.519T>G (p.Gly173=) c.456T>G (p.Gly152=) | dbSNP |
| 6 | g.36684518T= | CA1621457069 | CDKN1A | c.417T= (p.Gly139=) c.519T= (p.Gly173=) c.456T= (p.Gly152=) | |
| 6 | g.36684519C>A | CA450129176 | CDKN1A | c.418C>A (p.Arg140=) c.520C>A (p.Arg174=) c.457C>A (p.Arg153=) | |
| 6 | g.36684519C= | CA1621457070 | CDKN1A | c.418C= (p.Arg140=) c.520C= (p.Arg174=) c.457C= (p.Arg153=) | |
| 6 | g.36684519C>G | CA363834660 | CDKN1A | c.418C>G (p.Arg140Gly) c.520C>G (p.Arg174Gly) c.457C>G (p.Arg153Gly) | gnomAD v4 |
| 6 | g.36684519C>T | CA3780401 | CDKN1A | c.418C>T (p.Arg140Ter) c.520C>T (p.Arg174Ter) c.457C>T (p.Arg153Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 6 | g.36684520G>A | CA3780402 | CDKN1A | c.419G>A (p.Arg140Gln) c.521G>A (p.Arg174Gln) c.458G>A (p.Arg153Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.36684520G>C | CA363834661 | CDKN1A | c.419G>C (p.Arg140Pro) c.521G>C (p.Arg174Pro) c.458G>C (p.Arg153Pro) | |
| 6 | g.36684520G= | CA1621457071 | CDKN1A | c.419G= (p.Arg140=) c.521G= (p.Arg174=) c.458G= (p.Arg153=) | |
| 6 | g.36684520G>T | CA363834662 | CDKN1A | c.419G>T (p.Arg140Leu) c.521G>T (p.Arg174Leu) c.458G>T (p.Arg153Leu) | gnomAD v4 |
| 6 | g.36684520_36684521del | CA645545328 | CDKN1A | c.419_420del (p.Arg140GlnfsTer?) c.521_522del (p.Arg174GlnfsTer?) c.458_459del (p.Arg153GlnfsTer?) c.419_420del (p.Arg140GlnfsTer19) | COSMIC COSMIC |
| 6 | g.36684521A= | CA1621457072 | CDKN1A | c.420A= (p.Arg140=) c.522A= (p.Arg174=) c.459A= (p.Arg153=) | |
| 6 | g.36684521A>C | CA450129178 | CDKN1A | c.420A>C (p.Arg140=) c.522A>C (p.Arg174=) c.459A>C (p.Arg153=) | |
| 6 | g.36684521A>G | CA3780403 | CDKN1A | c.420A>G (p.Arg140=) c.522A>G (p.Arg174=) c.459A>G (p.Arg153=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.36684521A>T | CA450129179 | CDKN1A | c.420A>T (p.Arg140=) c.522A>T (p.Arg174=) c.459A>T (p.Arg153=) | |
| 6 | g.36684524dup | CA2678467019 | CDKN1A | c.423dup (p.Arg142ThrfsTer?) c.525dup (p.Arg176ThrfsTer?) c.462dup (p.Arg155ThrfsTer?) c.423dup (p.Arg142ThrfsTer18) | gnomAD v4 |
| 6 | g.36684522A>C | CA363834663 | CDKN1A | c.421A>C (p.Lys141Gln) c.523A>C (p.Lys175Gln) c.460A>C (p.Lys154Gln) | |
| 6 | g.36684522A>G | CA363834664 | CDKN1A | c.421A>G (p.Lys141Glu) c.523A>G (p.Lys175Glu) c.460A>G (p.Lys154Glu) | |
| 6 | g.36684522A>T | CA363834665 | CDKN1A | c.421A>T (p.Lys141Ter) c.523A>T (p.Lys175Ter) c.460A>T (p.Lys154Ter) | |
| 6 | g.36684523A>C | CA363834666 | CDKN1A | c.422A>C (p.Lys141Thr) c.524A>C (p.Lys175Thr) c.461A>C (p.Lys154Thr) | |
| 6 | g.36684523A>G | CA363834667 | CDKN1A | c.422A>G (p.Lys141Arg) c.524A>G (p.Lys175Arg) c.461A>G (p.Lys154Arg) | |
| 6 | g.36684523A>T | CA363834668 | CDKN1A | c.422A>T (p.Lys141Ile) c.524A>T (p.Lys175Ile) c.461A>T (p.Lys154Ile) |