| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.70035365A= | CA2435981895 | EDA | c.932A= (p.Tyr311=) c.926A= (p.Tyr309=) c.917A= (p.Tyr306=) c.536A= (p.Tyr179=) c.923A= (p.Tyr308=) c.890A= (p.Tyr297=) | |
| X | g.70035365A>C | CA16043303 | EDA | c.932A>C (p.Tyr311Ser) c.926A>C (p.Tyr309Ser) c.917A>C (p.Tyr306Ser) c.536A>C (p.Tyr179Ser) c.923A>C (p.Tyr308Ser) c.890A>C (p.Tyr297Ser) | ClinVar dbSNP |
| X | g.70035365A>G | CA413449253 | EDA | c.932A>G (p.Tyr311Cys) c.926A>G (p.Tyr309Cys) c.917A>G (p.Tyr306Cys) c.536A>G (p.Tyr179Cys) c.923A>G (p.Tyr308Cys) c.890A>G (p.Tyr297Cys) | |
| X | g.70035365A>T | CA413449256 | EDA | c.932A>T (p.Tyr311Phe) c.926A>T (p.Tyr309Phe) c.917A>T (p.Tyr306Phe) c.536A>T (p.Tyr179Phe) c.923A>T (p.Tyr308Phe) c.890A>T (p.Tyr297Phe) | |
| X | g.70035366C>A | CA413449259 | EDA | c.933C>A (p.Tyr311Ter) c.927C>A (p.Tyr309Ter) c.918C>A (p.Tyr306Ter) c.537C>A (p.Tyr179Ter) c.924C>A (p.Tyr308Ter) c.891C>A (p.Tyr297Ter) | |
| X | g.70035366C>G | CA413449263 | EDA | c.933C>G (p.Tyr311Ter) c.927C>G (p.Tyr309Ter) c.918C>G (p.Tyr306Ter) c.537C>G (p.Tyr179Ter) c.924C>G (p.Tyr308Ter) c.891C>G (p.Tyr297Ter) | |
| X | g.70035366C>T | CA517014759 | EDA | c.933C>T (p.Tyr311=) c.927C>T (p.Tyr309=) c.918C>T (p.Tyr306=) c.537C>T (p.Tyr179=) c.924C>T (p.Tyr308=) c.891C>T (p.Tyr297=) | |
| X | g.70035367A= | CA2435981896 | EDA | c.934A= (p.Ile312=) c.928A= (p.Ile310=) c.919A= (p.Ile307=) c.538A= (p.Ile180=) c.925A= (p.Ile309=) c.892A= (p.Ile298=) | |
| X | g.70035367A>C | CA413449266 | EDA | c.934A>C (p.Ile312Leu) c.928A>C (p.Ile310Leu) c.919A>C (p.Ile307Leu) c.538A>C (p.Ile180Leu) c.925A>C (p.Ile309Leu) c.892A>C (p.Ile298Leu) | |
| X | g.70035367A>G | CA10439031 | EDA | c.934A>G (p.Ile312Val) c.928A>G (p.Ile310Val) c.919A>G (p.Ile307Val) c.538A>G (p.Ile180Val) c.925A>G (p.Ile309Val) c.892A>G (p.Ile298Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.70035367A>T | CA413449271 | EDA | c.934A>T (p.Ile312Phe) c.928A>T (p.Ile310Phe) c.919A>T (p.Ile307Phe) c.538A>T (p.Ile180Phe) c.925A>T (p.Ile309Phe) c.892A>T (p.Ile298Phe) | |
| X | g.70035368T>A | CA413449287 | EDA | c.935T>A (p.Ile312Asn) c.929T>A (p.Ile310Asn) c.920T>A (p.Ile307Asn) c.539T>A (p.Ile180Asn) c.926T>A (p.Ile309Asn) c.893T>A (p.Ile298Asn) | |
| X | g.70035368T>C | CA413449290 | EDA | c.935T>C (p.Ile312Thr) c.929T>C (p.Ile310Thr) c.920T>C (p.Ile307Thr) c.539T>C (p.Ile180Thr) c.926T>C (p.Ile309Thr) c.893T>C (p.Ile298Thr) | ClinVar dbSNP |
| X | g.70035368T>G | CA413449284 | EDA | c.935T>G (p.Ile312Ser) c.929T>G (p.Ile310Ser) c.920T>G (p.Ile307Ser) c.539T>G (p.Ile180Ser) c.926T>G (p.Ile309Ser) c.893T>G (p.Ile298Ser) | |
| X | g.70035368T= | CA2435981897 | EDA | c.935T= (p.Ile312=) c.929T= (p.Ile310=) c.920T= (p.Ile307=) c.539T= (p.Ile180=) c.926T= (p.Ile309=) c.893T= (p.Ile298=) | |
| X | g.70035369C>A | CA517014767 | EDA | c.936C>A (p.Ile312=) c.930C>A (p.Ile310=) c.921C>A (p.Ile307=) c.540C>A (p.Ile180=) c.927C>A (p.Ile309=) c.894C>A (p.Ile298=) | dbSNP gnomAD v2 |
| X | g.70035369C= | CA2435981898 | EDA | c.936C= (p.Ile312=) c.930C= (p.Ile310=) c.921C= (p.Ile307=) c.540C= (p.Ile180=) c.927C= (p.Ile309=) c.894C= (p.Ile298=) | |
| X | g.70035369C>G | CA413449293 | EDA | c.936C>G (p.Ile312Met) c.930C>G (p.Ile310Met) c.921C>G (p.Ile307Met) c.540C>G (p.Ile180Met) c.927C>G (p.Ile309Met) c.894C>G (p.Ile298Met) | |
| X | g.70035369C>T | CA517014771 | EDA | c.936C>T (p.Ile312=) c.930C>T (p.Ile310=) c.921C>T (p.Ile307=) c.540C>T (p.Ile180=) c.927C>T (p.Ile309=) c.894C>T (p.Ile298=) | |
| X | g.70035370A>C | CA413449296 | EDA | c.937A>C (p.Asn313His) c.931A>C (p.Asn311His) c.922A>C (p.Asn308His) c.541A>C (p.Asn181His) c.928A>C (p.Asn310His) c.895A>C (p.Asn299His) | |
| X | g.70035370A>G | CA413449298 | EDA | c.937A>G (p.Asn313Asp) c.931A>G (p.Asn311Asp) c.922A>G (p.Asn308Asp) c.541A>G (p.Asn181Asp) c.928A>G (p.Asn310Asp) c.895A>G (p.Asn299Asp) | gnomAD v4 |
| X | g.70035370A>T | CA413449300 | EDA | c.937A>T (p.Asn313Tyr) c.931A>T (p.Asn311Tyr) c.922A>T (p.Asn308Tyr) c.541A>T (p.Asn181Tyr) c.928A>T (p.Asn310Tyr) c.895A>T (p.Asn299Tyr) | |
| X | g.70035371A>C | CA413449303 | EDA | c.938A>C (p.Asn313Thr) c.932A>C (p.Asn311Thr) c.923A>C (p.Asn308Thr) c.542A>C (p.Asn181Thr) c.929A>C (p.Asn310Thr) c.896A>C (p.Asn299Thr) | |
| X | g.70035371A>G | CA413449307 | EDA | c.938A>G (p.Asn313Ser) c.932A>G (p.Asn311Ser) c.923A>G (p.Asn308Ser) c.542A>G (p.Asn181Ser) c.929A>G (p.Asn310Ser) c.896A>G (p.Asn299Ser) | |
| X | g.70035371A>T | CA413449309 | EDA | c.938A>T (p.Asn313Ile) c.932A>T (p.Asn311Ile) c.923A>T (p.Asn308Ile) c.542A>T (p.Asn181Ile) c.929A>T (p.Asn310Ile) c.896A>T (p.Asn299Ile) | |
| X | g.70035372C>A | CA413449312 | EDA | c.939C>A (p.Asn313Lys) c.933C>A (p.Asn311Lys) c.924C>A (p.Asn308Lys) c.543C>A (p.Asn181Lys) c.930C>A (p.Asn310Lys) c.897C>A (p.Asn299Lys) | |
| X | g.70035372C>G | CA413449314 | EDA | c.939C>G (p.Asn313Lys) c.933C>G (p.Asn311Lys) c.924C>G (p.Asn308Lys) c.543C>G (p.Asn181Lys) c.930C>G (p.Asn310Lys) c.897C>G (p.Asn299Lys) | |
| X | g.70035372C>T | CA517014781 | EDA | c.939C>T (p.Asn313=) c.933C>T (p.Asn311=) c.924C>T (p.Asn308=) c.543C>T (p.Asn181=) c.930C>T (p.Asn310=) c.897C>T (p.Asn299=) | |
| X | g.70035373T>A | CA413449319 | EDA | c.940T>A (p.Phe314Ile) c.934T>A (p.Phe312Ile) c.925T>A (p.Phe309Ile) c.544T>A (p.Phe182Ile) c.931T>A (p.Phe311Ile) c.898T>A (p.Phe300Ile) | |
| X | g.70035373T>C | CA413449326 | EDA | c.940T>C (p.Phe314Leu) c.934T>C (p.Phe312Leu) c.925T>C (p.Phe309Leu) c.544T>C (p.Phe182Leu) c.931T>C (p.Phe311Leu) c.898T>C (p.Phe300Leu) | gnomAD v4 |
| X | g.70035373T>G | CA413449329 | EDA | c.940T>G (p.Phe314Val) c.934T>G (p.Phe312Val) c.925T>G (p.Phe309Val) c.544T>G (p.Phe182Val) c.931T>G (p.Phe311Val) c.898T>G (p.Phe300Val) | |
| X | g.70035374T>A | CA413449330 | EDA | c.941T>A (p.Phe314Tyr) c.935T>A (p.Phe312Tyr) c.926T>A (p.Phe309Tyr) c.545T>A (p.Phe182Tyr) c.932T>A (p.Phe311Tyr) c.899T>A (p.Phe300Tyr) | |
| X | g.70035374T>C | CA413449333 | EDA | c.941T>C (p.Phe314Ser) c.935T>C (p.Phe312Ser) c.926T>C (p.Phe309Ser) c.545T>C (p.Phe182Ser) c.932T>C (p.Phe311Ser) c.899T>C (p.Phe300Ser) | ClinVar dbSNP |
| X | g.70035374T>G | CA413449335 | EDA | c.941T>G (p.Phe314Cys) c.935T>G (p.Phe312Cys) c.926T>G (p.Phe309Cys) c.545T>G (p.Phe182Cys) c.932T>G (p.Phe311Cys) c.899T>G (p.Phe300Cys) | |
| X | g.70035374T= | CA2435981899 | EDA | c.941T= (p.Phe314=) c.935T= (p.Phe312=) c.926T= (p.Phe309=) c.545T= (p.Phe182=) c.932T= (p.Phe311=) c.899T= (p.Phe300=) | |
| X | g.70035375C>A | CA413449338 | EDA | c.942C>A (p.Phe314Leu) c.936C>A (p.Phe312Leu) c.927C>A (p.Phe309Leu) c.546C>A (p.Phe182Leu) c.933C>A (p.Phe311Leu) c.900C>A (p.Phe300Leu) | |
| X | g.70035375C>G | CA413449340 | EDA | c.942C>G (p.Phe314Leu) c.936C>G (p.Phe312Leu) c.927C>G (p.Phe309Leu) c.546C>G (p.Phe182Leu) c.933C>G (p.Phe311Leu) c.900C>G (p.Phe300Leu) | |
| X | g.70035375C>T | CA517014790 | EDA | c.942C>T (p.Phe314=) c.936C>T (p.Phe312=) c.927C>T (p.Phe309=) c.546C>T (p.Phe182=) c.933C>T (p.Phe311=) c.900C>T (p.Phe300=) | |
| X | g.70035376A>C | CA413449344 | EDA | c.943A>C (p.Thr315Pro) c.937A>C (p.Thr313Pro) c.928A>C (p.Thr310Pro) c.547A>C (p.Thr183Pro) c.934A>C (p.Thr312Pro) c.901A>C (p.Thr301Pro) | |
| X | g.70035376A>G | CA413449345 | EDA | c.943A>G (p.Thr315Ala) c.937A>G (p.Thr313Ala) c.928A>G (p.Thr310Ala) c.547A>G (p.Thr183Ala) c.934A>G (p.Thr312Ala) c.901A>G (p.Thr301Ala) | |
| X | g.70035376A>T | CA413449347 | EDA | c.943A>T (p.Thr315Ser) c.937A>T (p.Thr313Ser) c.928A>T (p.Thr310Ser) c.547A>T (p.Thr183Ser) c.934A>T (p.Thr312Ser) c.901A>T (p.Thr301Ser) | |
| X | g.70035377C>A | CA413449349 | EDA | c.944C>A (p.Thr315Asn) c.938C>A (p.Thr313Asn) c.929C>A (p.Thr310Asn) c.548C>A (p.Thr183Asn) c.935C>A (p.Thr312Asn) c.902C>A (p.Thr301Asn) | |
| X | g.70035377C>G | CA413449351 | EDA | c.944C>G (p.Thr315Ser) c.938C>G (p.Thr313Ser) c.929C>G (p.Thr310Ser) c.548C>G (p.Thr183Ser) c.935C>G (p.Thr312Ser) c.902C>G (p.Thr301Ser) | |
| X | g.70035377C>T | CA413449353 | EDA | c.944C>T (p.Thr315Ile) c.938C>T (p.Thr313Ile) c.929C>T (p.Thr310Ile) c.548C>T (p.Thr183Ile) c.935C>T (p.Thr312Ile) c.902C>T (p.Thr301Ile) | gnomAD v4 |
| X | g.70035378T>A | CA330952725 | EDA | c.945T>A (p.Thr315=) c.939T>A (p.Thr313=) c.930T>A (p.Thr310=) c.549T>A (p.Thr183=) c.936T>A (p.Thr312=) c.903T>A (p.Thr301=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.70035378T>C | CA517014800 | EDA | c.945T>C (p.Thr315=) c.939T>C (p.Thr313=) c.930T>C (p.Thr310=) c.549T>C (p.Thr183=) c.936T>C (p.Thr312=) c.903T>C (p.Thr301=) | gnomAD v4 |
| X | g.70035378T>G | CA517014802 | EDA | c.945T>G (p.Thr315=) c.939T>G (p.Thr313=) c.930T>G (p.Thr310=) c.549T>G (p.Thr183=) c.936T>G (p.Thr312=) c.903T>G (p.Thr301=) | |
| X | g.70035378T= | CA2435981900 | EDA | c.945T= (p.Thr315=) c.939T= (p.Thr313=) c.930T= (p.Thr310=) c.549T= (p.Thr183=) c.936T= (p.Thr312=) c.903T= (p.Thr301=) | |
| X | g.70035380_70035385del | CA2695234472 | EDA | c.947_952del (p.Asp316_Phe317del) c.941_946del (p.Asp314_Phe315del) c.932_937del (p.Asp311_Phe312del) c.551_556del (p.Asp184_Phe185del) c.938_943del (p.Asp313_Phe314del) c.905_910del (p.Asp302_Phe303del) | |
| X | g.70035379G>A | CA413449357 | EDA | c.946G>A (p.Asp316Asn) c.940G>A (p.Asp314Asn) c.931G>A (p.Asp311Asn) c.550G>A (p.Asp184Asn) c.937G>A (p.Asp313Asn) c.904G>A (p.Asp302Asn) |