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 |
|---|---|---|---|---|---|
| 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) | |
| X | g.70035379G>C | CA413449360 | EDA | c.946G>C (p.Asp316His) c.940G>C (p.Asp314His) c.931G>C (p.Asp311His) c.550G>C (p.Asp184His) c.937G>C (p.Asp313His) c.904G>C (p.Asp302His) | |
| X | g.70035379G>T | CA413449363 | EDA | c.946G>T (p.Asp316Tyr) c.940G>T (p.Asp314Tyr) c.931G>T (p.Asp311Tyr) c.550G>T (p.Asp184Tyr) c.937G>T (p.Asp313Tyr) c.904G>T (p.Asp302Tyr) | |
| X | g.70035380A>C | CA413449366 | EDA | c.947A>C (p.Asp316Ala) c.941A>C (p.Asp314Ala) c.932A>C (p.Asp311Ala) c.551A>C (p.Asp184Ala) c.938A>C (p.Asp313Ala) c.905A>C (p.Asp302Ala) | |
| X | g.70035380A>G | CA413449368 | EDA | c.947A>G (p.Asp316Gly) c.941A>G (p.Asp314Gly) c.932A>G (p.Asp311Gly) c.551A>G (p.Asp184Gly) c.938A>G (p.Asp313Gly) c.905A>G (p.Asp302Gly) | |
| X | g.70035380A>T | CA413449370 | EDA | c.947A>T (p.Asp316Val) c.941A>T (p.Asp314Val) c.932A>T (p.Asp311Val) c.551A>T (p.Asp184Val) c.938A>T (p.Asp313Val) c.905A>T (p.Asp302Val) | |
| X | g.70035380_70035381delinsAC | CA2435981901 | EDA | c.947_948delinsAC (p.Asp316=) c.941_942delinsAC (p.Asp314=) c.932_933delinsAC (p.Asp311=) c.551_552delinsAC (p.Asp184=) c.938_939delinsAC (p.Asp313=) c.905_906delinsAC (p.Asp302=) | |
| X | g.70035381del | CA273146 | EDA | c.948del (p.Phe317LeufsTer?) c.942del (p.Phe315LeufsTer?) c.933del (p.Phe312LeufsTer?) c.552del (p.Phe185LeufsTer?) c.939del (p.Phe314LeufsTer?) c.906del (p.Phe303LeufsTer?) | ClinVar dbSNP |
| X | g.70035381C>A | CA413449379 | EDA | c.948C>A (p.Asp316Glu) c.942C>A (p.Asp314Glu) c.933C>A (p.Asp311Glu) c.552C>A (p.Asp184Glu) c.939C>A (p.Asp313Glu) c.906C>A (p.Asp302Glu) | |
| X | g.70035381C= | CA2435981902 | EDA | c.948C= (p.Asp316=) c.942C= (p.Asp314=) c.933C= (p.Asp311=) c.552C= (p.Asp184=) c.939C= (p.Asp313=) c.906C= (p.Asp302=) | |
| X | g.70035381C>G | CA413449376 | EDA | c.948C>G (p.Asp316Glu) c.942C>G (p.Asp314Glu) c.933C>G (p.Asp311Glu) c.552C>G (p.Asp184Glu) c.939C>G (p.Asp313Glu) c.906C>G (p.Asp302Glu) | ClinVar |
| X | g.70035381C>T | CA10439032 | EDA | c.948C>T (p.Asp316=) c.942C>T (p.Asp314=) c.933C>T (p.Asp311=) c.552C>T (p.Asp184=) c.939C>T (p.Asp313=) c.906C>T (p.Asp302=) | dbSNP ExAC |
| X | g.70035382T>A | CA413449383 | EDA | c.949T>A (p.Phe317Ile) c.943T>A (p.Phe315Ile) c.934T>A (p.Phe312Ile) c.553T>A (p.Phe185Ile) c.940T>A (p.Phe314Ile) c.907T>A (p.Phe303Ile) | |
| X | g.70035382T>C | CA10439033 | EDA | c.949T>C (p.Phe317Leu) c.943T>C (p.Phe315Leu) c.934T>C (p.Phe312Leu) c.553T>C (p.Phe185Leu) c.940T>C (p.Phe314Leu) c.907T>C (p.Phe303Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.70035382T>G | CA413449387 | EDA | c.949T>G (p.Phe317Val) c.943T>G (p.Phe315Val) c.934T>G (p.Phe312Val) c.553T>G (p.Phe185Val) c.940T>G (p.Phe314Val) c.907T>G (p.Phe303Val) | |
| X | g.70035382T= | CA2435981903 | EDA | c.949T= (p.Phe317=) c.943T= (p.Phe315=) c.934T= (p.Phe312=) c.553T= (p.Phe185=) c.940T= (p.Phe314=) c.907T= (p.Phe303=) | |
| X | g.70035384del | CA2579632581 | EDA | c.951del (p.Phe317LeufsTer?) c.945del (p.Phe315LeufsTer?) c.936del (p.Phe312LeufsTer?) c.555del (p.Phe185LeufsTer?) c.942del (p.Phe314LeufsTer?) c.909del (p.Phe303LeufsTer?) | |
| X | g.70035383T>A | CA413449392 | EDA | c.950T>A (p.Phe317Tyr) c.944T>A (p.Phe315Tyr) c.935T>A (p.Phe312Tyr) c.554T>A (p.Phe185Tyr) c.941T>A (p.Phe314Tyr) c.908T>A (p.Phe303Tyr) | |
| X | g.70035383T>C | CA413449395 | EDA | c.950T>C (p.Phe317Ser) c.944T>C (p.Phe315Ser) c.935T>C (p.Phe312Ser) c.554T>C (p.Phe185Ser) c.941T>C (p.Phe314Ser) c.908T>C (p.Phe303Ser) | |
| X | g.70035383T>G | CA413449397 | EDA | c.950T>G (p.Phe317Cys) c.944T>G (p.Phe315Cys) c.935T>G (p.Phe312Cys) c.554T>G (p.Phe185Cys) c.941T>G (p.Phe314Cys) c.908T>G (p.Phe303Cys) | ClinVar dbSNP |
| X | g.70035383T= | CA2435981904 | EDA | c.950T= (p.Phe317=) c.944T= (p.Phe315=) c.935T= (p.Phe312=) c.554T= (p.Phe185=) c.941T= (p.Phe314=) c.908T= (p.Phe303=) | |
| X | g.70035384T>A | CA413449401 | EDA | c.951T>A (p.Phe317Leu) c.945T>A (p.Phe315Leu) c.936T>A (p.Phe312Leu) c.555T>A (p.Phe185Leu) c.942T>A (p.Phe314Leu) c.909T>A (p.Phe303Leu) | |
| X | g.70035384T>C | CA517014821 | EDA | c.951T>C (p.Phe317=) c.945T>C (p.Phe315=) c.936T>C (p.Phe312=) c.555T>C (p.Phe185=) c.942T>C (p.Phe314=) c.909T>C (p.Phe303=) | |
| X | g.70035384T>G | CA413449402 | EDA | c.951T>G (p.Phe317Leu) c.945T>G (p.Phe315Leu) c.936T>G (p.Phe312Leu) c.555T>G (p.Phe185Leu) c.942T>G (p.Phe314Leu) c.909T>G (p.Phe303Leu) | |
| X | g.70035385del | CA2695234473 | EDA | c.952del (p.Ala318ProfsTer?) c.946del (p.Ala316ProfsTer?) c.937del (p.Ala313ProfsTer?) c.556del (p.Ala186ProfsTer?) c.943del (p.Ala315ProfsTer?) c.910del (p.Ala304ProfsTer?) | |
| X | g.70035385G>A | CA413449406 | EDA | c.952G>A (p.Ala318Thr) c.946G>A (p.Ala316Thr) c.937G>A (p.Ala313Thr) c.556G>A (p.Ala186Thr) c.943G>A (p.Ala315Thr) c.910G>A (p.Ala304Thr) | |
| X | g.70035385G>C | CA413449408 | EDA | c.952G>C (p.Ala318Pro) c.946G>C (p.Ala316Pro) c.937G>C (p.Ala313Pro) c.556G>C (p.Ala186Pro) c.943G>C (p.Ala315Pro) c.910G>C (p.Ala304Pro) | |
| X | g.70035385G>T | CA413449411 | EDA | c.952G>T (p.Ala318Ser) c.946G>T (p.Ala316Ser) c.937G>T (p.Ala313Ser) c.556G>T (p.Ala186Ser) c.943G>T (p.Ala315Ser) c.910G>T (p.Ala304Ser) | |
| X | g.70035386C>A | CA413449417 | EDA | c.953C>A (p.Ala318Asp) c.947C>A (p.Ala316Asp) c.938C>A (p.Ala313Asp) c.557C>A (p.Ala186Asp) c.944C>A (p.Ala315Asp) c.911C>A (p.Ala304Asp) | ClinVar dbSNP COSMIC |
| X | g.70035386C>G | CA413449419 | EDA | c.953C>G (p.Ala318Gly) c.947C>G (p.Ala316Gly) c.938C>G (p.Ala313Gly) c.557C>G (p.Ala186Gly) c.944C>G (p.Ala315Gly) c.911C>G (p.Ala304Gly) | |
| X | g.70035386C>T | CA413449414 | EDA | c.953C>T (p.Ala318Val) c.947C>T (p.Ala316Val) c.938C>T (p.Ala313Val) c.557C>T (p.Ala186Val) c.944C>T (p.Ala315Val) c.911C>T (p.Ala304Val) | gnomAD v4 |
| X | g.70035387del | CA2695234474 | EDA | c.954del (p.Ser319AlafsTer?) c.948del (p.Ser317AlafsTer?) c.939del (p.Ser314AlafsTer?) c.558del (p.Ser187AlafsTer?) c.945del (p.Ser316AlafsTer?) c.912del (p.Ser305AlafsTer?) | |
| X | g.70035386_70035434delinsCCAGCTATGAGGTGGTGGTGGATGAGAAGCCCTTCCTGCAGTGCACACG | CA2435981905 | EDA | c.953_1001delinsCCAGCTATGAGGTGGTGGTGGATGAGAAGCCCTTCCTGCAGTGCACACG (p.Ala318=) c.947_995delinsCCAGCTATGAGGTGGTGGTGGATGAGAAGCCCTTCCTGCAGTGCACACG (p.Ala316=) c.938_986delinsCCAGCTATGAGGTGGTGGTGGATGAGAAGCCCTTCCTGCAGTGCACACG (p.Ala313=) c.557_605delinsCCAGCTATGAGGTGGTGGTGGATGAGAAGCCCTTCCTGCAGTGCACACG (p.Ala186=) c.944_992delinsCCAGCTATGAGGTGGTGGTGGATGAGAAGCCCTTCCTGCAGTGCACACG (p.Ala315=) c.911_959delinsCCAGCTATGAGGTGGTGGTGGATGAGAAGCCCTTCCTGCAGTGCACACG (p.Ala304=) | |
| X | g.70035387C>A | CA517014831 | EDA | c.954C>A (p.Ala318=) c.948C>A (p.Ala316=) c.939C>A (p.Ala313=) c.558C>A (p.Ala186=) c.945C>A (p.Ala315=) c.912C>A (p.Ala304=) | |
| X | g.70035387C>G | CA517014833 | EDA | c.954C>G (p.Ala318=) c.948C>G (p.Ala316=) c.939C>G (p.Ala313=) c.558C>G (p.Ala186=) c.945C>G (p.Ala315=) c.912C>G (p.Ala304=) | |
| X | g.70035387C>T | CA517014835 | EDA | c.954C>T (p.Ala318=) c.948C>T (p.Ala316=) c.939C>T (p.Ala313=) c.558C>T (p.Ala186=) c.945C>T (p.Ala315=) c.912C>T (p.Ala304=) | |
| X | g.70035391_70035438del | CA658799794 | EDA | c.958_1005del (p.Tyr320_Ser335del) c.952_999del (p.Tyr318_Ser333del) c.943_990del (p.Tyr315_Ser330del) c.562_609del (p.Tyr188_Ser203del) c.949_996del (p.Tyr317_Ser332del) c.916_963del (p.Tyr306_Ser321del) | ClinVar dbSNP |
| X | g.70035388A>C | CA413449423 | EDA | c.955A>C (p.Ser319Arg) c.949A>C (p.Ser317Arg) c.940A>C (p.Ser314Arg) c.559A>C (p.Ser187Arg) c.946A>C (p.Ser316Arg) c.913A>C (p.Ser305Arg) | |
| X | g.70035388A>G | CA413449426 | EDA | c.955A>G (p.Ser319Gly) c.949A>G (p.Ser317Gly) c.940A>G (p.Ser314Gly) c.559A>G (p.Ser187Gly) c.946A>G (p.Ser316Gly) c.913A>G (p.Ser305Gly) | |
| X | g.70035388A>T | CA413449429 | EDA | c.955A>T (p.Ser319Cys) c.949A>T (p.Ser317Cys) c.940A>T (p.Ser314Cys) c.559A>T (p.Ser187Cys) c.946A>T (p.Ser316Cys) c.913A>T (p.Ser305Cys) | |
| X | g.70035389G>A | CA413449432 | EDA | c.956G>A (p.Ser319Asn) c.950G>A (p.Ser317Asn) c.941G>A (p.Ser314Asn) c.560G>A (p.Ser187Asn) c.947G>A (p.Ser316Asn) c.914G>A (p.Ser305Asn) | ClinVar dbSNP |
| X | g.70035389G>C | CA413449434 | EDA | c.956G>C (p.Ser319Thr) c.950G>C (p.Ser317Thr) c.941G>C (p.Ser314Thr) c.560G>C (p.Ser187Thr) c.947G>C (p.Ser316Thr) c.914G>C (p.Ser305Thr) | |
| X | g.70035389G= | CA2435981906 | EDA | c.956G= (p.Ser319=) c.950G= (p.Ser317=) c.941G= (p.Ser314=) c.560G= (p.Ser187=) c.947G= (p.Ser316=) c.914G= (p.Ser305=) | |
| X | g.70035389G>T | CA163279 | EDA | c.956G>T (p.Ser319Ile) c.950G>T (p.Ser317Ile) c.941G>T (p.Ser314Ile) c.560G>T (p.Ser187Ile) c.947G>T (p.Ser316Ile) c.914G>T (p.Ser305Ile) | ClinVar dbSNP |
| X | g.70035390C>A | CA413449439 | EDA | c.957C>A (p.Ser319Arg) c.951C>A (p.Ser317Arg) c.942C>A (p.Ser314Arg) c.561C>A (p.Ser187Arg) c.948C>A (p.Ser316Arg) c.915C>A (p.Ser305Arg) | |
| X | g.70035390C>G | CA413449443 | EDA | c.957C>G (p.Ser319Arg) c.951C>G (p.Ser317Arg) c.942C>G (p.Ser314Arg) c.561C>G (p.Ser187Arg) c.948C>G (p.Ser316Arg) c.915C>G (p.Ser305Arg) | gnomAD v4 |
| X | g.70035390C>T | CA517014843 | EDA | c.957C>T (p.Ser319=) c.951C>T (p.Ser317=) c.942C>T (p.Ser314=) c.561C>T (p.Ser187=) c.948C>T (p.Ser316=) c.915C>T (p.Ser305=) | |
| X | g.70035391T>A | CA413449446 | EDA | c.958T>A (p.Tyr320Asn) c.952T>A (p.Tyr318Asn) c.943T>A (p.Tyr315Asn) c.562T>A (p.Tyr188Asn) c.949T>A (p.Tyr317Asn) c.916T>A (p.Tyr306Asn) | |
| X | g.70035391T>C | CA413449449 | EDA | c.958T>C (p.Tyr320His) c.952T>C (p.Tyr318His) c.943T>C (p.Tyr315His) c.562T>C (p.Tyr188His) c.949T>C (p.Tyr317His) c.916T>C (p.Tyr306His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.70035391T>G | CA413449452 | EDA | c.958T>G (p.Tyr320Asp) c.952T>G (p.Tyr318Asp) c.943T>G (p.Tyr315Asp) c.562T>G (p.Tyr188Asp) c.949T>G (p.Tyr317Asp) c.916T>G (p.Tyr306Asp) | ClinVar dbSNP |
| X | g.70035391T= | CA2435981907 | EDA | c.958T= (p.Tyr320=) c.952T= (p.Tyr318=) c.943T= (p.Tyr315=) c.562T= (p.Tyr188=) c.949T= (p.Tyr317=) c.916T= (p.Tyr306=) | |
| X | g.70035392A>C | CA413449455 | EDA | c.959A>C (p.Tyr320Ser) c.953A>C (p.Tyr318Ser) c.944A>C (p.Tyr315Ser) c.563A>C (p.Tyr188Ser) c.950A>C (p.Tyr317Ser) c.917A>C (p.Tyr306Ser) | ClinVar |
| X | g.70035392A>G | CA413449458 | EDA | c.959A>G (p.Tyr320Cys) c.953A>G (p.Tyr318Cys) c.944A>G (p.Tyr315Cys) c.563A>G (p.Tyr188Cys) c.950A>G (p.Tyr317Cys) c.917A>G (p.Tyr306Cys) | |
| X | g.70035392A>T | CA413449460 | EDA | c.959A>T (p.Tyr320Phe) c.953A>T (p.Tyr318Phe) c.944A>T (p.Tyr315Phe) c.563A>T (p.Tyr188Phe) c.950A>T (p.Tyr317Phe) c.917A>T (p.Tyr306Phe) | |
| X | g.70035393T>A | CA413449465 | EDA | c.960T>A (p.Tyr320Ter) c.954T>A (p.Tyr318Ter) c.945T>A (p.Tyr315Ter) c.564T>A (p.Tyr188Ter) c.951T>A (p.Tyr317Ter) c.918T>A (p.Tyr306Ter) | |
| X | g.70035393T>C | CA517014850 | EDA | c.960T>C (p.Tyr320=) c.954T>C (p.Tyr318=) c.945T>C (p.Tyr315=) c.564T>C (p.Tyr188=) c.951T>C (p.Tyr317=) c.918T>C (p.Tyr306=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.70035393T>G | CA10577179 | EDA | c.960T>G (p.Tyr320Ter) c.954T>G (p.Tyr318Ter) c.945T>G (p.Tyr315Ter) c.564T>G (p.Tyr188Ter) c.951T>G (p.Tyr317Ter) c.918T>G (p.Tyr306Ter) | ClinVar dbSNP |
| X | g.70035393T= | CA2435981908 | EDA | c.960T= (p.Tyr320=) c.954T= (p.Tyr318=) c.945T= (p.Tyr315=) c.564T= (p.Tyr188=) c.951T= (p.Tyr317=) c.918T= (p.Tyr306=) | |
| X | g.70035394G>A | CA413449469 | EDA | c.961G>A (p.Glu321Lys) c.955G>A (p.Glu319Lys) c.946G>A (p.Glu316Lys) c.565G>A (p.Glu189Lys) c.952G>A (p.Glu318Lys) c.919G>A (p.Glu307Lys) | ClinVar dbSNP |
| X | g.70035394G>C | CA413449478 | EDA | c.961G>C (p.Glu321Gln) c.955G>C (p.Glu319Gln) c.946G>C (p.Glu316Gln) c.565G>C (p.Glu189Gln) c.952G>C (p.Glu318Gln) c.919G>C (p.Glu307Gln) | |
| X | g.70035394G= | CA2435981909 | EDA | c.961G= (p.Glu321=) c.955G= (p.Glu319=) c.946G= (p.Glu316=) c.565G= (p.Glu189=) c.952G= (p.Glu318=) c.919G= (p.Glu307=) | |
| X | g.70035394G>T | CA261512 | EDA | c.961G>T (p.Glu321Ter) c.955G>T (p.Glu319Ter) c.946G>T (p.Glu316Ter) c.565G>T (p.Glu189Ter) c.952G>T (p.Glu318Ter) c.919G>T (p.Glu307Ter) | ClinVar dbSNP |
| X | g.70035395A>C | CA413449483 | EDA | c.962A>C (p.Glu321Ala) c.956A>C (p.Glu319Ala) c.947A>C (p.Glu316Ala) c.566A>C (p.Glu189Ala) c.953A>C (p.Glu318Ala) c.920A>C (p.Glu307Ala) | |
| X | g.70035395A>G | CA413449489 | EDA | c.962A>G (p.Glu321Gly) c.956A>G (p.Glu319Gly) c.947A>G (p.Glu316Gly) c.566A>G (p.Glu189Gly) c.953A>G (p.Glu318Gly) c.920A>G (p.Glu307Gly) | |
| X | g.70035395A>T | CA413449486 | EDA | c.962A>T (p.Glu321Val) c.956A>T (p.Glu319Val) c.947A>T (p.Glu316Val) c.566A>T (p.Glu189Val) c.953A>T (p.Glu318Val) c.920A>T (p.Glu307Val) | |
| X | g.70035396G>A | CA517014871 | EDA | c.963G>A (p.Glu321=) c.957G>A (p.Glu319=) c.948G>A (p.Glu316=) c.567G>A (p.Glu189=) c.954G>A (p.Glu318=) c.921G>A (p.Glu307=) | dbSNP |
| X | g.70035396G>C | CA413449492 | EDA | c.963G>C (p.Glu321Asp) c.957G>C (p.Glu319Asp) c.948G>C (p.Glu316Asp) c.567G>C (p.Glu189Asp) c.954G>C (p.Glu318Asp) c.921G>C (p.Glu307Asp) | |
| X | g.70035396G= | CA2435981910 | EDA | c.963G= (p.Glu321=) c.957G= (p.Glu319=) c.948G= (p.Glu316=) c.567G= (p.Glu189=) c.954G= (p.Glu318=) c.921G= (p.Glu307=) | |
| X | g.70035396G>T | CA413449495 | EDA | c.963G>T (p.Glu321Asp) c.957G>T (p.Glu319Asp) c.948G>T (p.Glu316Asp) c.567G>T (p.Glu189Asp) c.954G>T (p.Glu318Asp) c.921G>T (p.Glu307Asp) | |
| X | g.70035397G>A | CA413449498 | EDA | c.964G>A (p.Val322Met) c.958G>A (p.Val320Met) c.949G>A (p.Val317Met) c.568G>A (p.Val190Met) c.955G>A (p.Val319Met) c.922G>A (p.Val308Met) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.70035397G>C | CA413449500 | EDA | c.964G>C (p.Val322Leu) c.958G>C (p.Val320Leu) c.949G>C (p.Val317Leu) c.568G>C (p.Val190Leu) c.955G>C (p.Val319Leu) c.922G>C (p.Val308Leu) | |
| X | g.70035397G= | CA2435981911 | EDA | c.964G= (p.Val322=) c.958G= (p.Val320=) c.949G= (p.Val317=) c.568G= (p.Val190=) c.955G= (p.Val319=) c.922G= (p.Val308=) | |
| X | g.70035397G>T | CA413449503 | EDA | c.964G>T (p.Val322Leu) c.958G>T (p.Val320Leu) c.949G>T (p.Val317Leu) c.568G>T (p.Val190Leu) c.955G>T (p.Val319Leu) c.922G>T (p.Val308Leu) | |
| X | g.70035398_70035399del | CA2695234475 | EDA | c.965_966del (p.Val322GlyfsTer4) c.959_960del (p.Val320GlyfsTer4) c.950_951del (p.Val317GlyfsTer4) c.569_570del (p.Val190GlyfsTer4) c.956_957del (p.Val319GlyfsTer4) c.923_924del (p.Val308GlyfsTer4) | |
| X | g.70035398T>A | CA413449505 | EDA | c.965T>A (p.Val322Glu) c.959T>A (p.Val320Glu) c.950T>A (p.Val317Glu) c.569T>A (p.Val190Glu) c.956T>A (p.Val319Glu) c.923T>A (p.Val308Glu) | |
| X | g.70035398T>C | CA413449507 | EDA | c.965T>C (p.Val322Ala) c.959T>C (p.Val320Ala) c.950T>C (p.Val317Ala) c.569T>C (p.Val190Ala) c.956T>C (p.Val319Ala) c.923T>C (p.Val308Ala) | |
| X | g.70035398T>G | CA413449510 | EDA | c.965T>G (p.Val322Gly) c.959T>G (p.Val320Gly) c.950T>G (p.Val317Gly) c.569T>G (p.Val190Gly) c.956T>G (p.Val319Gly) c.923T>G (p.Val308Gly) | |
| X | g.70035399G>A | CA517014884 | EDA | c.966G>A (p.Val322=) c.960G>A (p.Val320=) c.951G>A (p.Val317=) c.570G>A (p.Val190=) c.957G>A (p.Val319=) c.924G>A (p.Val308=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.70035399G>C | CA517014886 | EDA | c.966G>C (p.Val322=) c.960G>C (p.Val320=) c.951G>C (p.Val317=) c.570G>C (p.Val190=) c.957G>C (p.Val319=) c.924G>C (p.Val308=) | |
| X | g.70035399G= | CA2435981912 | EDA | c.966G= (p.Val322=) c.960G= (p.Val320=) c.951G= (p.Val317=) c.570G= (p.Val190=) c.957G= (p.Val319=) c.924G= (p.Val308=) | |
| X | g.70035399G>T | CA517014888 | EDA | c.966G>T (p.Val322=) c.960G>T (p.Val320=) c.951G>T (p.Val317=) c.570G>T (p.Val190=) c.957G>T (p.Val319=) c.924G>T (p.Val308=) | gnomAD v4 |
| X | g.70035400G>A | CA413449513 | EDA | c.967G>A (p.Val323Met) c.961G>A (p.Val321Met) c.952G>A (p.Val318Met) c.571G>A (p.Val191Met) c.958G>A (p.Val320Met) c.925G>A (p.Val309Met) | gnomAD v4 |
| X | g.70035400G>C | CA413449514 | EDA | c.967G>C (p.Val323Leu) c.961G>C (p.Val321Leu) c.952G>C (p.Val318Leu) c.571G>C (p.Val191Leu) c.958G>C (p.Val320Leu) c.925G>C (p.Val309Leu) | |
| X | g.70035400G>T | CA413449517 | EDA | c.967G>T (p.Val323Leu) c.961G>T (p.Val321Leu) c.952G>T (p.Val318Leu) c.571G>T (p.Val191Leu) c.958G>T (p.Val320Leu) c.925G>T (p.Val309Leu) | |
| X | g.70035401T>A | CA413449525 | EDA | c.968T>A (p.Val323Glu) c.962T>A (p.Val321Glu) c.953T>A (p.Val318Glu) c.572T>A (p.Val191Glu) c.959T>A (p.Val320Glu) c.926T>A (p.Val309Glu) | |
| X | g.70035401T>C | CA413449523 | EDA | c.968T>C (p.Val323Ala) c.962T>C (p.Val321Ala) c.953T>C (p.Val318Ala) c.572T>C (p.Val191Ala) c.959T>C (p.Val320Ala) c.926T>C (p.Val309Ala) | dbSNP |
| X | g.70035401T>G | CA413449520 | EDA | c.968T>G (p.Val323Gly) c.962T>G (p.Val321Gly) c.953T>G (p.Val318Gly) c.572T>G (p.Val191Gly) c.959T>G (p.Val320Gly) c.926T>G (p.Val309Gly) | |
| X | g.70035401T= | CA2435981913 | EDA | c.968T= (p.Val323=) c.962T= (p.Val321=) c.953T= (p.Val318=) c.572T= (p.Val191=) c.959T= (p.Val320=) c.926T= (p.Val309=) | |
| X | g.70035402G>A | CA517014896 | EDA | c.969G>A (p.Val323=) c.963G>A (p.Val321=) c.954G>A (p.Val318=) c.573G>A (p.Val191=) c.960G>A (p.Val320=) c.927G>A (p.Val309=) | dbSNP |
| X | g.70035402G>C | CA517014898 | EDA | c.969G>C (p.Val323=) c.963G>C (p.Val321=) c.954G>C (p.Val318=) c.573G>C (p.Val191=) c.960G>C (p.Val320=) c.927G>C (p.Val309=) | |
| X | g.70035402G= | CA2435981914 | EDA | c.969G= (p.Val323=) c.963G= (p.Val321=) c.954G= (p.Val318=) c.573G= (p.Val191=) c.960G= (p.Val320=) c.927G= (p.Val309=) | |
| X | g.70035402G>T | CA517014900 | EDA | c.969G>T (p.Val323=) c.963G>T (p.Val321=) c.954G>T (p.Val318=) c.573G>T (p.Val191=) c.960G>T (p.Val320=) c.927G>T (p.Val309=) | gnomAD v4 |
| X | g.70035403G>A | CA413449530 | EDA | c.970G>A (p.Val324Met) c.964G>A (p.Val322Met) c.955G>A (p.Val319Met) c.574G>A (p.Val192Met) c.961G>A (p.Val321Met) c.928G>A (p.Val310Met) | ClinVar dbSNP |
| X | g.70035403G>C | CA413449533 | EDA | c.970G>C (p.Val324Leu) c.964G>C (p.Val322Leu) c.955G>C (p.Val319Leu) c.574G>C (p.Val192Leu) c.961G>C (p.Val321Leu) c.928G>C (p.Val310Leu) | |
| X | g.70035403G= | CA2435981915 | EDA | c.970G= (p.Val324=) c.964G= (p.Val322=) c.955G= (p.Val319=) c.574G= (p.Val192=) c.961G= (p.Val321=) c.928G= (p.Val310=) | |
| X | g.70035403G>T | CA413449535 | EDA | c.970G>T (p.Val324Leu) c.964G>T (p.Val322Leu) c.955G>T (p.Val319Leu) c.574G>T (p.Val192Leu) c.961G>T (p.Val321Leu) c.928G>T (p.Val310Leu) | |
| X | g.70035404T>A | CA413449539 | EDA | c.971T>A (p.Val324Glu) c.965T>A (p.Val322Glu) c.956T>A (p.Val319Glu) c.575T>A (p.Val192Glu) c.962T>A (p.Val321Glu) c.929T>A (p.Val310Glu) | |
| X | g.70035404T>C | CA413449542 | EDA | c.971T>C (p.Val324Ala) c.965T>C (p.Val322Ala) c.956T>C (p.Val319Ala) c.575T>C (p.Val192Ala) c.962T>C (p.Val321Ala) c.929T>C (p.Val310Ala) | |
| X | g.70035404T>G | CA413449545 | EDA | c.971T>G (p.Val324Gly) c.965T>G (p.Val322Gly) c.956T>G (p.Val319Gly) c.575T>G (p.Val192Gly) c.962T>G (p.Val321Gly) c.929T>G (p.Val310Gly) | |
| X | g.70035405G>A | CA517014907 | EDA | c.972G>A (p.Val324=) c.966G>A (p.Val322=) c.957G>A (p.Val319=) c.576G>A (p.Val192=) c.963G>A (p.Val321=) c.930G>A (p.Val310=) | gnomAD v4 COSMIC COSMIC |
| X | g.70035405G>C | CA517014908 | EDA | c.972G>C (p.Val324=) c.966G>C (p.Val322=) c.957G>C (p.Val319=) c.576G>C (p.Val192=) c.963G>C (p.Val321=) c.930G>C (p.Val310=) | |
| X | g.70035405G>T | CA517014909 | EDA | c.972G>T (p.Val324=) c.966G>T (p.Val322=) c.957G>T (p.Val319=) c.576G>T (p.Val192=) c.963G>T (p.Val321=) c.930G>T (p.Val310=) | |
| X | g.70035406G>A | CA413449549 | EDA | c.973G>A (p.Asp325Asn) c.967G>A (p.Asp323Asn) c.958G>A (p.Asp320Asn) c.577G>A (p.Asp193Asn) c.964G>A (p.Asp322Asn) c.931G>A (p.Asp311Asn) | |
| X | g.70035406G>C | CA413449551 | EDA | c.973G>C (p.Asp325His) c.967G>C (p.Asp323His) c.958G>C (p.Asp320His) c.577G>C (p.Asp193His) c.964G>C (p.Asp322His) c.931G>C (p.Asp311His) | |
| X | g.70035406G>T | CA413449553 | EDA | c.973G>T (p.Asp325Tyr) c.967G>T (p.Asp323Tyr) c.958G>T (p.Asp320Tyr) c.577G>T (p.Asp193Tyr) c.964G>T (p.Asp322Tyr) c.931G>T (p.Asp311Tyr) | ClinVar dbSNP |
| X | g.70035407A>C | CA413449556 | EDA | c.974A>C (p.Asp325Ala) c.968A>C (p.Asp323Ala) c.959A>C (p.Asp320Ala) c.578A>C (p.Asp193Ala) c.965A>C (p.Asp322Ala) c.932A>C (p.Asp311Ala) | |
| X | g.70035407A>G | CA413449559 | EDA | c.974A>G (p.Asp325Gly) c.968A>G (p.Asp323Gly) c.959A>G (p.Asp320Gly) c.578A>G (p.Asp193Gly) c.965A>G (p.Asp322Gly) c.932A>G (p.Asp311Gly) | gnomAD v4 |
| X | g.70035407A>T | CA413449562 | EDA | c.974A>T (p.Asp325Val) c.968A>T (p.Asp323Val) c.959A>T (p.Asp320Val) c.578A>T (p.Asp193Val) c.965A>T (p.Asp322Val) c.932A>T (p.Asp311Val) | |
| X | g.70035408T>A | CA413449565 | EDA | c.975T>A (p.Asp325Glu) c.969T>A (p.Asp323Glu) c.960T>A (p.Asp320Glu) c.579T>A (p.Asp193Glu) c.966T>A (p.Asp322Glu) c.933T>A (p.Asp311Glu) | gnomAD v4 |
| X | g.70035408T>C | CA517015382 | EDA | c.975T>C (p.Asp325=) c.969T>C (p.Asp323=) c.960T>C (p.Asp320=) c.579T>C (p.Asp193=) c.966T>C (p.Asp322=) c.933T>C (p.Asp311=) | |
| X | g.70035408T>G | CA413449567 | EDA | c.975T>G (p.Asp325Glu) c.969T>G (p.Asp323Glu) c.960T>G (p.Asp320Glu) c.579T>G (p.Asp193Glu) c.966T>G (p.Asp322Glu) c.933T>G (p.Asp311Glu) | |
| X | g.70035409G>A | CA413449569 | EDA | c.976G>A (p.Glu326Lys) c.970G>A (p.Glu324Lys) c.961G>A (p.Glu321Lys) c.580G>A (p.Glu194Lys) c.967G>A (p.Glu323Lys) c.934G>A (p.Glu312Lys) | |
| X | g.70035409G>C | CA413449571 | EDA | c.976G>C (p.Glu326Gln) c.970G>C (p.Glu324Gln) c.961G>C (p.Glu321Gln) c.580G>C (p.Glu194Gln) c.967G>C (p.Glu323Gln) c.934G>C (p.Glu312Gln) | |
| X | g.70035409G>T | CA413449574 | EDA | c.976G>T (p.Glu326Ter) c.970G>T (p.Glu324Ter) c.961G>T (p.Glu321Ter) c.580G>T (p.Glu194Ter) c.967G>T (p.Glu323Ter) c.934G>T (p.Glu312Ter) | |
| X | g.70035410A>C | CA413449578 | EDA | c.977A>C (p.Glu326Ala) c.971A>C (p.Glu324Ala) c.962A>C (p.Glu321Ala) c.581A>C (p.Glu194Ala) c.968A>C (p.Glu323Ala) c.935A>C (p.Glu312Ala) | |
| X | g.70035410A>G | CA413449581 | EDA | c.977A>G (p.Glu326Gly) c.971A>G (p.Glu324Gly) c.962A>G (p.Glu321Gly) c.581A>G (p.Glu194Gly) c.968A>G (p.Glu323Gly) c.935A>G (p.Glu312Gly) | |
| X | g.70035410A>T | CA413449584 | EDA | c.977A>T (p.Glu326Val) c.971A>T (p.Glu324Val) c.962A>T (p.Glu321Val) c.581A>T (p.Glu194Val) c.968A>T (p.Glu323Val) c.935A>T (p.Glu312Val) | |
| X | g.70035411G>A | CA517015391 | EDA | c.978G>A (p.Glu326=) c.972G>A (p.Glu324=) c.963G>A (p.Glu321=) c.582G>A (p.Glu194=) c.969G>A (p.Glu323=) c.936G>A (p.Glu312=) | |
| X | g.70035411G>C | CA330952726 | EDA | c.978G>C (p.Glu326Asp) c.972G>C (p.Glu324Asp) c.963G>C (p.Glu321Asp) c.582G>C (p.Glu194Asp) c.969G>C (p.Glu323Asp) c.936G>C (p.Glu312Asp) | dbSNP gnomAD v4 |
| X | g.70035411G= | CA2435981916 | EDA | c.978G= (p.Glu326=) c.972G= (p.Glu324=) c.963G= (p.Glu321=) c.582G= (p.Glu194=) c.969G= (p.Glu323=) c.936G= (p.Glu312=) | |
| X | g.70035411G>T | CA413449589 | EDA | c.978G>T (p.Glu326Asp) c.972G>T (p.Glu324Asp) c.963G>T (p.Glu321Asp) c.582G>T (p.Glu194Asp) c.969G>T (p.Glu323Asp) c.936G>T (p.Glu312Asp) | |
| X | g.70035412A= | CA2435981917 | EDA | c.979A= (p.Lys327=) c.973A= (p.Lys325=) c.964A= (p.Lys322=) c.583A= (p.Lys195=) c.970A= (p.Lys324=) c.937A= (p.Lys313=) | |
| X | g.70035412A>C | CA413449592 | EDA | c.979A>C (p.Lys327Gln) c.973A>C (p.Lys325Gln) c.964A>C (p.Lys322Gln) c.583A>C (p.Lys195Gln) c.970A>C (p.Lys324Gln) c.937A>C (p.Lys313Gln) | |
| X | g.70035412A>G | CA413449596 | EDA | c.979A>G (p.Lys327Glu) c.973A>G (p.Lys325Glu) c.964A>G (p.Lys322Glu) c.583A>G (p.Lys195Glu) c.970A>G (p.Lys324Glu) c.937A>G (p.Lys313Glu) | dbSNP |
| X | g.70035412A>T | CA413449599 | EDA | c.979A>T (p.Lys327Ter) c.973A>T (p.Lys325Ter) c.964A>T (p.Lys322Ter) c.583A>T (p.Lys195Ter) c.970A>T (p.Lys324Ter) c.937A>T (p.Lys313Ter) | |
| X | g.70035413A>C | CA413449602 | EDA | c.980A>C (p.Lys327Thr) c.974A>C (p.Lys325Thr) c.965A>C (p.Lys322Thr) c.584A>C (p.Lys195Thr) c.971A>C (p.Lys324Thr) c.938A>C (p.Lys313Thr) | |
| X | g.70035413A>G | CA413449604 | EDA | c.980A>G (p.Lys327Arg) c.974A>G (p.Lys325Arg) c.965A>G (p.Lys322Arg) c.584A>G (p.Lys195Arg) c.971A>G (p.Lys324Arg) c.938A>G (p.Lys313Arg) | |
| X | g.70035413A>T | CA413449607 | EDA | c.980A>T (p.Lys327Met) c.974A>T (p.Lys325Met) c.965A>T (p.Lys322Met) c.584A>T (p.Lys195Met) c.971A>T (p.Lys324Met) c.938A>T (p.Lys313Met) | |
| X | g.70035414G>A | CA517015401 | EDA | c.981G>A (p.Lys327=) c.975G>A (p.Lys325=) c.966G>A (p.Lys322=) c.585G>A (p.Lys195=) c.972G>A (p.Lys324=) c.939G>A (p.Lys313=) | |
| X | g.70035414G>C | CA413449610 | EDA | c.981G>C (p.Lys327Asn) c.975G>C (p.Lys325Asn) c.966G>C (p.Lys322Asn) c.585G>C (p.Lys195Asn) c.972G>C (p.Lys324Asn) c.939G>C (p.Lys313Asn) | |
| X | g.70035414G>T | CA413449613 | EDA | c.981G>T (p.Lys327Asn) c.975G>T (p.Lys325Asn) c.966G>T (p.Lys322Asn) c.585G>T (p.Lys195Asn) c.972G>T (p.Lys324Asn) c.939G>T (p.Lys313Asn) | |
| X | g.70035415C>A | CA413449622 | EDA | c.982C>A (p.Pro328Thr) c.976C>A (p.Pro326Thr) c.967C>A (p.Pro323Thr) c.586C>A (p.Pro196Thr) c.973C>A (p.Pro325Thr) c.940C>A (p.Pro314Thr) | |
| X | g.70035415C= | CA2435981918 | EDA | c.982C= (p.Pro328=) c.976C= (p.Pro326=) c.967C= (p.Pro323=) c.586C= (p.Pro196=) c.973C= (p.Pro325=) c.940C= (p.Pro314=) | |
| X | g.70035415C>G | CA413449624 | EDA | c.982C>G (p.Pro328Ala) c.976C>G (p.Pro326Ala) c.967C>G (p.Pro323Ala) c.586C>G (p.Pro196Ala) c.973C>G (p.Pro325Ala) c.940C>G (p.Pro314Ala) | gnomAD v4 |
| X | g.70035415C>T | CA413449626 | EDA | c.982C>T (p.Pro328Ser) c.976C>T (p.Pro326Ser) c.967C>T (p.Pro323Ser) c.586C>T (p.Pro196Ser) c.973C>T (p.Pro325Ser) c.940C>T (p.Pro314Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.70035416C>A | CA413449628 | EDA | c.983C>A (p.Pro328His) c.977C>A (p.Pro326His) c.968C>A (p.Pro323His) c.587C>A (p.Pro196His) c.974C>A (p.Pro325His) c.941C>A (p.Pro314His) | |
| X | g.70035416C>G | CA413449631 | EDA | c.983C>G (p.Pro328Arg) c.977C>G (p.Pro326Arg) c.968C>G (p.Pro323Arg) c.587C>G (p.Pro196Arg) c.974C>G (p.Pro325Arg) c.941C>G (p.Pro314Arg) | |
| X | g.70035416C>T | CA413449633 | EDA | c.983C>T (p.Pro328Leu) c.977C>T (p.Pro326Leu) c.968C>T (p.Pro323Leu) c.587C>T (p.Pro196Leu) c.974C>T (p.Pro325Leu) c.941C>T (p.Pro314Leu) | |
| X | g.70035417C>A | CA517015413 | EDA | c.984C>A (p.Pro328=) c.978C>A (p.Pro326=) c.969C>A (p.Pro323=) c.588C>A (p.Pro196=) c.975C>A (p.Pro325=) c.942C>A (p.Pro314=) | |
| X | g.70035417C= | CA2435981919 | EDA | c.984C= (p.Pro328=) c.978C= (p.Pro326=) c.969C= (p.Pro323=) c.588C= (p.Pro196=) c.975C= (p.Pro325=) c.942C= (p.Pro314=) | |
| X | g.70035417C>G | CA517015411 | EDA | c.984C>G (p.Pro328=) c.978C>G (p.Pro326=) c.969C>G (p.Pro323=) c.588C>G (p.Pro196=) c.975C>G (p.Pro325=) c.942C>G (p.Pro314=) | |
| X | g.70035417C>T | CA330952727 | EDA | c.984C>T (p.Pro328=) c.978C>T (p.Pro326=) c.969C>T (p.Pro323=) c.588C>T (p.Pro196=) c.975C>T (p.Pro325=) c.942C>T (p.Pro314=) | dbSNP gnomAD v4 |
| X | g.70035418T>A | CA413449649 | EDA | c.985T>A (p.Phe329Ile) c.979T>A (p.Phe327Ile) c.970T>A (p.Phe324Ile) c.589T>A (p.Phe197Ile) c.976T>A (p.Phe326Ile) c.943T>A (p.Phe315Ile) | |
| X | g.70035418T>C | CA413449652 | EDA | c.985T>C (p.Phe329Leu) c.979T>C (p.Phe327Leu) c.970T>C (p.Phe324Leu) c.589T>C (p.Phe197Leu) c.976T>C (p.Phe326Leu) c.943T>C (p.Phe315Leu) | |
| X | g.70035418T>G | CA413449655 | EDA | c.985T>G (p.Phe329Val) c.979T>G (p.Phe327Val) c.970T>G (p.Phe324Val) c.589T>G (p.Phe197Val) c.976T>G (p.Phe326Val) c.943T>G (p.Phe315Val) | |
| X | g.70035419T>A | CA413449659 | EDA | c.986T>A (p.Phe329Tyr) c.980T>A (p.Phe327Tyr) c.971T>A (p.Phe324Tyr) c.590T>A (p.Phe197Tyr) c.977T>A (p.Phe326Tyr) c.944T>A (p.Phe315Tyr) | |
| X | g.70035419T>C | CA413449661 | EDA | c.986T>C (p.Phe329Ser) c.980T>C (p.Phe327Ser) c.971T>C (p.Phe324Ser) c.590T>C (p.Phe197Ser) c.977T>C (p.Phe326Ser) c.944T>C (p.Phe315Ser) | ClinVar dbSNP |
| X | g.70035419T>G | CA413449664 | EDA | c.986T>G (p.Phe329Cys) c.980T>G (p.Phe327Cys) c.971T>G (p.Phe324Cys) c.590T>G (p.Phe197Cys) c.977T>G (p.Phe326Cys) c.944T>G (p.Phe315Cys) | ClinVar |
| X | g.70035419T= | CA2435981920 | EDA | c.986T= (p.Phe329=) c.980T= (p.Phe327=) c.971T= (p.Phe324=) c.590T= (p.Phe197=) c.977T= (p.Phe326=) c.944T= (p.Phe315=) | |
| X | g.70035420C>A | CA413449670 | EDA | c.987C>A (p.Phe329Leu) c.981C>A (p.Phe327Leu) c.972C>A (p.Phe324Leu) c.591C>A (p.Phe197Leu) c.978C>A (p.Phe326Leu) c.945C>A (p.Phe315Leu) | |
| X | g.70035420C>G | CA413449667 | EDA | c.987C>G (p.Phe329Leu) c.981C>G (p.Phe327Leu) c.972C>G (p.Phe324Leu) c.591C>G (p.Phe197Leu) c.978C>G (p.Phe326Leu) c.945C>G (p.Phe315Leu) | |
| X | g.70035420C>T | CA517015421 | EDA | c.987C>T (p.Phe329=) c.981C>T (p.Phe327=) c.972C>T (p.Phe324=) c.591C>T (p.Phe197=) c.978C>T (p.Phe326=) c.945C>T (p.Phe315=) | COSMIC COSMIC |
| X | g.70035421C>A | CA413449672 | EDA | c.988C>A (p.Leu330Met) c.982C>A (p.Leu328Met) c.973C>A (p.Leu325Met) c.592C>A (p.Leu198Met) c.979C>A (p.Leu327Met) c.946C>A (p.Leu316Met) | COSMIC COSMIC |
| X | g.70035421C>G | CA413449675 | EDA | c.988C>G (p.Leu330Val) c.982C>G (p.Leu328Val) c.973C>G (p.Leu325Val) c.592C>G (p.Leu198Val) c.979C>G (p.Leu327Val) c.946C>G (p.Leu316Val) | |
| X | g.70035421C>T | CA517015427 | EDA | c.988C>T (p.Leu330=) c.982C>T (p.Leu328=) c.973C>T (p.Leu325=) c.592C>T (p.Leu198=) c.979C>T (p.Leu327=) c.946C>T (p.Leu316=) | ClinVar dbSNP gnomAD v4 |
| X | g.70035422T>A | CA413449678 | EDA | c.989T>A (p.Leu330Gln) c.983T>A (p.Leu328Gln) c.974T>A (p.Leu325Gln) c.593T>A (p.Leu198Gln) c.980T>A (p.Leu327Gln) c.947T>A (p.Leu316Gln) | |
| X | g.70035422T>C | CA413449681 | EDA | c.989T>C (p.Leu330Pro) c.983T>C (p.Leu328Pro) c.974T>C (p.Leu325Pro) c.593T>C (p.Leu198Pro) c.980T>C (p.Leu327Pro) c.947T>C (p.Leu316Pro) | |
| X | g.70035422T>G | CA413449684 | EDA | c.989T>G (p.Leu330Arg) c.983T>G (p.Leu328Arg) c.974T>G (p.Leu325Arg) c.593T>G (p.Leu198Arg) c.980T>G (p.Leu327Arg) c.947T>G (p.Leu316Arg) | |
| X | g.70035423G>A | CA10439034 | EDA | c.990G>A (p.Leu330=) c.984G>A (p.Leu328=) c.975G>A (p.Leu325=) c.594G>A (p.Leu198=) c.981G>A (p.Leu327=) c.948G>A (p.Leu316=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.70035423G>C | CA517015435 | EDA | c.990G>C (p.Leu330=) c.984G>C (p.Leu328=) c.975G>C (p.Leu325=) c.594G>C (p.Leu198=) c.981G>C (p.Leu327=) c.948G>C (p.Leu316=) | |
| X | g.70035423G= | CA2435981921 | EDA | c.990G= (p.Leu330=) c.984G= (p.Leu328=) c.975G= (p.Leu325=) c.594G= (p.Leu198=) c.981G= (p.Leu327=) c.948G= (p.Leu316=) | |
| X | g.70035423G>T | CA517015433 | EDA | c.990G>T (p.Leu330=) c.984G>T (p.Leu328=) c.975G>T (p.Leu325=) c.594G>T (p.Leu198=) c.981G>T (p.Leu327=) c.948G>T (p.Leu316=) | |
| X | g.70035424C>A | CA413449689 | EDA | c.991C>A (p.Gln331Lys) c.985C>A (p.Gln329Lys) c.976C>A (p.Gln326Lys) c.595C>A (p.Gln199Lys) c.982C>A (p.Gln328Lys) c.949C>A (p.Gln317Lys) | |
| X | g.70035424C= | CA2435981922 | EDA | c.991C= (p.Gln331=) c.985C= (p.Gln329=) c.976C= (p.Gln326=) c.595C= (p.Gln199=) c.982C= (p.Gln328=) c.949C= (p.Gln317=) | |
| X | g.70035424C>G | CA413449692 | EDA | c.991C>G (p.Gln331Glu) c.985C>G (p.Gln329Glu) c.976C>G (p.Gln326Glu) c.595C>G (p.Gln199Glu) c.982C>G (p.Gln328Glu) c.949C>G (p.Gln317Glu) | |
| X | g.70035424C>T | CA273147 | EDA | c.991C>T (p.Gln331Ter) c.985C>T (p.Gln329Ter) c.976C>T (p.Gln326Ter) c.595C>T (p.Gln199Ter) c.982C>T (p.Gln328Ter) c.949C>T (p.Gln317Ter) | ClinVar dbSNP COSMIC COSMIC |
| X | g.70035425A>C | CA413449696 | EDA | c.992A>C (p.Gln331Pro) c.986A>C (p.Gln329Pro) c.977A>C (p.Gln326Pro) c.596A>C (p.Gln199Pro) c.983A>C (p.Gln328Pro) c.950A>C (p.Gln317Pro) | |
| X | g.70035425A>G | CA413449699 | EDA | c.992A>G (p.Gln331Arg) c.986A>G (p.Gln329Arg) c.977A>G (p.Gln326Arg) c.596A>G (p.Gln199Arg) c.983A>G (p.Gln328Arg) c.950A>G (p.Gln317Arg) | gnomAD v4 |
| X | g.70035425A>T | CA413449701 | EDA | c.992A>T (p.Gln331Leu) c.986A>T (p.Gln329Leu) c.977A>T (p.Gln326Leu) c.596A>T (p.Gln199Leu) c.983A>T (p.Gln328Leu) c.950A>T (p.Gln317Leu) | |
| X | g.70035426G>A | CA517015443 | EDA | c.993G>A (p.Gln331=) c.987G>A (p.Gln329=) c.978G>A (p.Gln326=) c.597G>A (p.Gln199=) c.984G>A (p.Gln328=) c.951G>A (p.Gln317=) | ClinVar dbSNP gnomAD v2 |
| X | g.70035426G>C | CA413449704 | EDA | c.993G>C (p.Gln331His) c.987G>C (p.Gln329His) c.978G>C (p.Gln326His) c.597G>C (p.Gln199His) c.984G>C (p.Gln328His) c.951G>C (p.Gln317His) | |
| X | g.70035426G= | CA2435981923 | EDA | c.993G= (p.Gln331=) c.987G= (p.Gln329=) c.978G= (p.Gln326=) c.597G= (p.Gln199=) c.984G= (p.Gln328=) c.951G= (p.Gln317=) | |
| X | g.70035426G>T | CA413449707 | EDA | c.993G>T (p.Gln331His) c.987G>T (p.Gln329His) c.978G>T (p.Gln326His) c.597G>T (p.Gln199His) c.984G>T (p.Gln328His) c.951G>T (p.Gln317His) | |
| X | g.70035427T>A | CA413449714 | EDA | c.994T>A (p.Cys332Ser) c.988T>A (p.Cys330Ser) c.979T>A (p.Cys327Ser) c.598T>A (p.Cys200Ser) c.985T>A (p.Cys329Ser) c.952T>A (p.Cys318Ser) | |
| X | g.70035427T>C | CA413449711 | EDA | c.994T>C (p.Cys332Arg) c.988T>C (p.Cys330Arg) c.979T>C (p.Cys327Arg) c.598T>C (p.Cys200Arg) c.985T>C (p.Cys329Arg) c.952T>C (p.Cys318Arg) | |
| X | g.70035427T>G | CA413449709 | EDA | c.994T>G (p.Cys332Gly) c.988T>G (p.Cys330Gly) c.979T>G (p.Cys327Gly) c.598T>G (p.Cys200Gly) c.985T>G (p.Cys329Gly) c.952T>G (p.Cys318Gly) | |
| X | g.70035428G>A | CA413449717 | EDA | c.995G>A (p.Cys332Tyr) c.989G>A (p.Cys330Tyr) c.980G>A (p.Cys327Tyr) c.599G>A (p.Cys200Tyr) c.986G>A (p.Cys329Tyr) c.953G>A (p.Cys318Tyr) | ClinVar dbSNP |
| X | g.70035428G>C | CA413449720 | EDA | c.995G>C (p.Cys332Ser) c.989G>C (p.Cys330Ser) c.980G>C (p.Cys327Ser) c.599G>C (p.Cys200Ser) c.986G>C (p.Cys329Ser) c.953G>C (p.Cys318Ser) | |
| X | g.70035428G= | CA2435981924 | EDA | c.995G= (p.Cys332=) c.989G= (p.Cys330=) c.980G= (p.Cys327=) c.599G= (p.Cys200=) c.986G= (p.Cys329=) c.953G= (p.Cys318=) | |
| X | g.70035428G>T | CA413449723 | EDA | c.995G>T (p.Cys332Phe) c.989G>T (p.Cys330Phe) c.980G>T (p.Cys327Phe) c.599G>T (p.Cys200Phe) c.986G>T (p.Cys329Phe) c.953G>T (p.Cys318Phe) | |
| X | g.70035429C>A | CA413449725 | EDA | c.996C>A (p.Cys332Ter) c.990C>A (p.Cys330Ter) c.981C>A (p.Cys327Ter) c.600C>A (p.Cys200Ter) c.987C>A (p.Cys329Ter) c.954C>A (p.Cys318Ter) | |
| X | g.70035429C>G | CA413449728 | EDA | c.996C>G (p.Cys332Trp) c.990C>G (p.Cys330Trp) c.981C>G (p.Cys327Trp) c.600C>G (p.Cys200Trp) c.987C>G (p.Cys329Trp) c.954C>G (p.Cys318Trp) | |
| X | g.70035429C>T | CA517015453 | EDA | c.996C>T (p.Cys332=) c.990C>T (p.Cys330=) c.981C>T (p.Cys327=) c.600C>T (p.Cys200=) c.987C>T (p.Cys329=) c.954C>T (p.Cys318=) | |
| X | g.70035430A>C | CA413449731 | EDA | c.997A>C (p.Thr333Pro) c.991A>C (p.Thr331Pro) c.982A>C (p.Thr328Pro) c.601A>C (p.Thr201Pro) c.988A>C (p.Thr330Pro) c.955A>C (p.Thr319Pro) | |
| X | g.70035430A>G | CA413449732 | EDA | c.997A>G (p.Thr333Ala) c.991A>G (p.Thr331Ala) c.982A>G (p.Thr328Ala) c.601A>G (p.Thr201Ala) c.988A>G (p.Thr330Ala) c.955A>G (p.Thr319Ala) | |
| X | g.70035430A>T | CA413449736 | EDA | c.997A>T (p.Thr333Ser) c.991A>T (p.Thr331Ser) c.982A>T (p.Thr328Ser) c.601A>T (p.Thr201Ser) c.988A>T (p.Thr330Ser) c.955A>T (p.Thr319Ser) | |
| X | g.70035431C>A | CA413449741 | EDA | c.998C>A (p.Thr333Lys) c.992C>A (p.Thr331Lys) c.983C>A (p.Thr328Lys) c.602C>A (p.Thr201Lys) c.989C>A (p.Thr330Lys) c.956C>A (p.Thr319Lys) | |
| X | g.70035431C= | CA2435981925 | EDA | c.998C= (p.Thr333=) c.992C= (p.Thr331=) c.983C= (p.Thr328=) c.602C= (p.Thr201=) c.989C= (p.Thr330=) c.956C= (p.Thr319=) | |
| X | g.70035431C>G | CA413449743 | EDA | c.998C>G (p.Thr333Arg) c.992C>G (p.Thr331Arg) c.983C>G (p.Thr328Arg) c.602C>G (p.Thr201Arg) c.989C>G (p.Thr330Arg) c.956C>G (p.Thr319Arg) | ClinVar dbSNP |
| X | g.70035431C>T | CA413449746 | EDA | c.998C>T (p.Thr333Ile) c.992C>T (p.Thr331Ile) c.983C>T (p.Thr328Ile) c.602C>T (p.Thr201Ile) c.989C>T (p.Thr330Ile) c.956C>T (p.Thr319Ile) | |
| X | g.70035433_70035439del | CA2695234476 | EDA | c.1000_1006del (p.Arg334SerfsTer?) c.994_1000del (p.Arg332SerfsTer?) c.985_991del (p.Arg329SerfsTer?) c.604_610del (p.Arg202SerfsTer?) c.991_997del (p.Arg331SerfsTer?) c.958_964del (p.Arg320SerfsTer?) | |
| X | g.70035432A>C | CA517015461 | EDA | c.999A>C (p.Thr333=) c.993A>C (p.Thr331=) c.984A>C (p.Thr328=) c.603A>C (p.Thr201=) c.990A>C (p.Thr330=) c.957A>C (p.Thr319=) | |
| X | g.70035432A>G | CA517015463 | EDA | c.999A>G (p.Thr333=) c.993A>G (p.Thr331=) c.984A>G (p.Thr328=) c.603A>G (p.Thr201=) c.990A>G (p.Thr330=) c.957A>G (p.Thr319=) | |
| X | g.70035432A>T | CA517015464 | EDA | c.999A>T (p.Thr333=) c.993A>T (p.Thr331=) c.984A>T (p.Thr328=) c.603A>T (p.Thr201=) c.990A>T (p.Thr330=) c.957A>T (p.Thr319=) | |
| X | g.70035435_70035447del | CA2695234477 | EDA | c.1002_1014del (p.Ser335AlafsTer?) c.996_1008del (p.Ser333AlafsTer?) c.987_999del (p.Ser330AlafsTer?) c.606_618del (p.Ser203AlafsTer?) c.993_1005del (p.Ser332AlafsTer?) c.960_972del (p.Ser321AlafsTer?) | |
| X | g.70035433C>A | CA413449750 | EDA | c.1000C>A (p.Arg334Ser) c.994C>A (p.Arg332Ser) c.985C>A (p.Arg329Ser) c.604C>A (p.Arg202Ser) c.991C>A (p.Arg331Ser) c.958C>A (p.Arg320Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.70035433C= | CA2435981926 | EDA | c.1000C= (p.Arg334=) c.994C= (p.Arg332=) c.985C= (p.Arg329=) c.604C= (p.Arg202=) c.991C= (p.Arg331=) c.958C= (p.Arg320=) | |
| X | g.70035433C>G | CA413449753 | EDA | c.1000C>G (p.Arg334Gly) c.994C>G (p.Arg332Gly) c.985C>G (p.Arg329Gly) c.604C>G (p.Arg202Gly) c.991C>G (p.Arg331Gly) c.958C>G (p.Arg320Gly) | |
| X | g.70035433C>T | CA10439035 | EDA | c.1000C>T (p.Arg334Cys) c.994C>T (p.Arg332Cys) c.985C>T (p.Arg329Cys) c.604C>T (p.Arg202Cys) c.991C>T (p.Arg331Cys) c.958C>T (p.Arg320Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.70035434G>A | CA10439036 | EDA | c.1001G>A (p.Arg334His) c.995G>A (p.Arg332His) c.986G>A (p.Arg329His) c.605G>A (p.Arg202His) c.992G>A (p.Arg331His) c.959G>A (p.Arg320His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.70035434G>C | CA10577180 | EDA | c.1001G>C (p.Arg334Pro) c.995G>C (p.Arg332Pro) c.986G>C (p.Arg329Pro) c.605G>C (p.Arg202Pro) c.992G>C (p.Arg331Pro) c.959G>C (p.Arg320Pro) | ClinVar dbSNP |
| X | g.70035434G= | CA2435981927 | EDA | c.1001G= (p.Arg334=) c.995G= (p.Arg332=) c.986G= (p.Arg329=) c.605G= (p.Arg202=) c.992G= (p.Arg331=) c.959G= (p.Arg320=) | |
| X | g.70035434G>T | CA413449758 | EDA | c.1001G>T (p.Arg334Leu) c.995G>T (p.Arg332Leu) c.986G>T (p.Arg329Leu) c.605G>T (p.Arg202Leu) c.992G>T (p.Arg331Leu) c.959G>T (p.Arg320Leu) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.70035435C>A | CA517015473 | EDA | c.1002C>A (p.Arg334=) c.996C>A (p.Arg332=) c.987C>A (p.Arg329=) c.606C>A (p.Arg202=) c.993C>A (p.Arg331=) c.960C>A (p.Arg320=) | |
| X | g.70035435C>G | CA517015475 | EDA | c.1002C>G (p.Arg334=) c.996C>G (p.Arg332=) c.987C>G (p.Arg329=) c.606C>G (p.Arg202=) c.993C>G (p.Arg331=) c.960C>G (p.Arg320=) | |
| X | g.70035435C>T | CA517015477 | EDA | c.1002C>T (p.Arg334=) c.996C>T (p.Arg332=) c.987C>T (p.Arg329=) c.606C>T (p.Arg202=) c.993C>T (p.Arg331=) c.960C>T (p.Arg320=) | |
| X | g.70035436A>C | CA413449764 | EDA | c.1003A>C (p.Ser335Arg) c.997A>C (p.Ser333Arg) c.988A>C (p.Ser330Arg) c.607A>C (p.Ser203Arg) c.994A>C (p.Ser332Arg) c.961A>C (p.Ser321Arg) | |
| X | g.70035436A>G | CA413449767 | EDA | c.1003A>G (p.Ser335Gly) c.997A>G (p.Ser333Gly) c.988A>G (p.Ser330Gly) c.607A>G (p.Ser203Gly) c.994A>G (p.Ser332Gly) c.961A>G (p.Ser321Gly) | |
| X | g.70035436A>T | CA413449768 | EDA | c.1003A>T (p.Ser335Cys) c.997A>T (p.Ser333Cys) c.988A>T (p.Ser330Cys) c.607A>T (p.Ser203Cys) c.994A>T (p.Ser332Cys) c.961A>T (p.Ser321Cys) | |
| X | g.70035437G>A | CA413449772 | EDA | c.1004G>A (p.Ser335Asn) c.998G>A (p.Ser333Asn) c.989G>A (p.Ser330Asn) c.608G>A (p.Ser203Asn) c.995G>A (p.Ser332Asn) c.962G>A (p.Ser321Asn) | gnomAD v4 |
| X | g.70035437G>C | CA413449775 | EDA | c.1004G>C (p.Ser335Thr) c.998G>C (p.Ser333Thr) c.989G>C (p.Ser330Thr) c.608G>C (p.Ser203Thr) c.995G>C (p.Ser332Thr) c.962G>C (p.Ser321Thr) | |
| X | g.70035437G>T | CA413449777 | EDA | c.1004G>T (p.Ser335Ile) c.998G>T (p.Ser333Ile) c.989G>T (p.Ser330Ile) c.608G>T (p.Ser203Ile) c.995G>T (p.Ser332Ile) c.962G>T (p.Ser321Ile) | gnomAD v4 COSMIC |
| X | g.70035438C>A | CA413449780 | EDA | c.1005C>A (p.Ser335Arg) c.999C>A (p.Ser333Arg) c.990C>A (p.Ser330Arg) c.609C>A (p.Ser203Arg) c.996C>A (p.Ser332Arg) c.963C>A (p.Ser321Arg) | |
| X | g.70035438C>G | CA413449783 | EDA | c.1005C>G (p.Ser335Arg) c.999C>G (p.Ser333Arg) c.990C>G (p.Ser330Arg) c.609C>G (p.Ser203Arg) c.996C>G (p.Ser332Arg) c.963C>G (p.Ser321Arg) | |
| X | g.70035438C>T | CA517015486 | EDA | c.1005C>T (p.Ser335=) c.999C>T (p.Ser333=) c.990C>T (p.Ser330=) c.609C>T (p.Ser203=) c.996C>T (p.Ser332=) c.963C>T (p.Ser321=) | |
| X | g.70035439A>C | CA413449786 | EDA | c.1006A>C (p.Ile336Leu) c.1000A>C (p.Ile334Leu) c.991A>C (p.Ile331Leu) c.610A>C (p.Ile204Leu) c.997A>C (p.Ile333Leu) c.964A>C (p.Ile322Leu) | |
| X | g.70035439A>G | CA413449788 | EDA | c.1006A>G (p.Ile336Val) c.1000A>G (p.Ile334Val) c.991A>G (p.Ile331Val) c.610A>G (p.Ile204Val) c.997A>G (p.Ile333Val) c.964A>G (p.Ile322Val) | |
| X | g.70035439A>T | CA413449792 | EDA | c.1006A>T (p.Ile336Phe) c.1000A>T (p.Ile334Phe) c.991A>T (p.Ile331Phe) c.610A>T (p.Ile204Phe) c.997A>T (p.Ile333Phe) c.964A>T (p.Ile322Phe) | |
| X | g.70035440T>A | CA413449795 | EDA | c.1007T>A (p.Ile336Asn) c.1001T>A (p.Ile334Asn) c.992T>A (p.Ile331Asn) c.611T>A (p.Ile204Asn) c.998T>A (p.Ile333Asn) c.965T>A (p.Ile322Asn) | |
| X | g.70035440T>C | CA413449796 | EDA | c.1007T>C (p.Ile336Thr) c.1001T>C (p.Ile334Thr) c.992T>C (p.Ile331Thr) c.611T>C (p.Ile204Thr) c.998T>C (p.Ile333Thr) c.965T>C (p.Ile322Thr) | |
| X | g.70035440T>G | CA413449799 | EDA | c.1007T>G (p.Ile336Ser) c.1001T>G (p.Ile334Ser) c.992T>G (p.Ile331Ser) c.611T>G (p.Ile204Ser) c.998T>G (p.Ile333Ser) c.965T>G (p.Ile322Ser) | |
| X | g.70035441del | CA2695200228 | EDA | c.1008del (p.Ile336MetfsTer?) c.1002del (p.Ile334MetfsTer?) c.993del (p.Ile331MetfsTer?) c.612del (p.Ile204MetfsTer?) c.999del (p.Ile333MetfsTer?) c.966del (p.Ile322MetfsTer?) | ClinVar |
| X | g.70035441C>A | CA517015494 | EDA | c.1008C>A (p.Ile336=) c.1002C>A (p.Ile334=) c.993C>A (p.Ile331=) c.612C>A (p.Ile204=) c.999C>A (p.Ile333=) c.966C>A (p.Ile322=) | |
| X | g.70035441C= | CA2435981928 | EDA | c.1008C= (p.Ile336=) c.1002C= (p.Ile334=) c.993C= (p.Ile331=) c.612C= (p.Ile204=) c.999C= (p.Ile333=) c.966C= (p.Ile322=) | |
| X | g.70035441C>G | CA413449802 | EDA | c.1008C>G (p.Ile336Met) c.1002C>G (p.Ile334Met) c.993C>G (p.Ile331Met) c.612C>G (p.Ile204Met) c.999C>G (p.Ile333Met) c.966C>G (p.Ile322Met) | |
| X | g.70035441C>T | CA10439037 | EDA | c.1008C>T (p.Ile336=) c.1002C>T (p.Ile334=) c.993C>T (p.Ile331=) c.612C>T (p.Ile204=) c.999C>T (p.Ile333=) c.966C>T (p.Ile322=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| X | g.70035442G>A | CA10439038 | EDA | c.1009G>A (p.Glu337Lys) c.1003G>A (p.Glu335Lys) c.994G>A (p.Glu332Lys) c.613G>A (p.Glu205Lys) c.1000G>A (p.Glu334Lys) c.967G>A (p.Glu323Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.70035442G>C | CA10439039 | EDA | c.1009G>C (p.Glu337Gln) c.1003G>C (p.Glu335Gln) c.994G>C (p.Glu332Gln) c.613G>C (p.Glu205Gln) c.1000G>C (p.Glu334Gln) c.967G>C (p.Glu323Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.70035442G= | CA2435981929 | EDA | c.1009G= (p.Glu337=) c.1003G= (p.Glu335=) c.994G= (p.Glu332=) c.613G= (p.Glu205=) c.1000G= (p.Glu334=) c.967G= (p.Glu323=) | |
| X | g.70035442G>T | CA413449810 | EDA | c.1009G>T (p.Glu337Ter) c.1003G>T (p.Glu335Ter) c.994G>T (p.Glu332Ter) c.613G>T (p.Glu205Ter) c.1000G>T (p.Glu334Ter) c.967G>T (p.Glu323Ter) | ClinVar dbSNP |
| X | g.70035443A= | CA2435981930 | EDA | c.1010A= (p.Glu337=) c.1004A= (p.Glu335=) c.995A= (p.Glu332=) c.614A= (p.Glu205=) c.1001A= (p.Glu334=) c.968A= (p.Glu323=) | |
| X | g.70035443A>C | CA413449814 | EDA | c.1010A>C (p.Glu337Ala) c.1004A>C (p.Glu335Ala) c.995A>C (p.Glu332Ala) c.614A>C (p.Glu205Ala) c.1001A>C (p.Glu334Ala) c.968A>C (p.Glu323Ala) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.70035443A>G | CA413449815 | EDA | c.1010A>G (p.Glu337Gly) c.1004A>G (p.Glu335Gly) c.995A>G (p.Glu332Gly) c.614A>G (p.Glu205Gly) c.1001A>G (p.Glu334Gly) c.968A>G (p.Glu323Gly) | |
| X | g.70035443A>T | CA10439040 | EDA | c.1010A>T (p.Glu337Val) c.1004A>T (p.Glu335Val) c.995A>T (p.Glu332Val) c.614A>T (p.Glu205Val) c.1001A>T (p.Glu334Val) c.968A>T (p.Glu323Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.70035444G>A | CA517015506 | EDA | c.1011G>A (p.Glu337=) c.1005G>A (p.Glu335=) c.996G>A (p.Glu332=) c.615G>A (p.Glu205=) c.1002G>A (p.Glu334=) c.969G>A (p.Glu323=) | |
| X | g.70035444G>C | CA413449820 | EDA | c.1011G>C (p.Glu337Asp) c.1005G>C (p.Glu335Asp) c.996G>C (p.Glu332Asp) c.615G>C (p.Glu205Asp) c.1002G>C (p.Glu334Asp) c.969G>C (p.Glu323Asp) | |
| X | g.70035444G>T | CA413449822 | EDA | c.1011G>T (p.Glu337Asp) c.1005G>T (p.Glu335Asp) c.996G>T (p.Glu332Asp) c.615G>T (p.Glu205Asp) c.1002G>T (p.Glu334Asp) c.969G>T (p.Glu323Asp) | gnomAD v4 |
| X | g.70035445A>C | CA413449824 | EDA | c.1012A>C (p.Thr338Pro) c.1006A>C (p.Thr336Pro) c.997A>C (p.Thr333Pro) c.616A>C (p.Thr206Pro) c.1003A>C (p.Thr335Pro) c.970A>C (p.Thr324Pro) | |
| X | g.70035445A>G | CA413449826 | EDA | c.1012A>G (p.Thr338Ala) c.1006A>G (p.Thr336Ala) c.997A>G (p.Thr333Ala) c.616A>G (p.Thr206Ala) c.1003A>G (p.Thr335Ala) c.970A>G (p.Thr324Ala) | ClinVar |
| X | g.70035445A>T | CA413449828 | EDA | c.1012A>T (p.Thr338Ser) c.1006A>T (p.Thr336Ser) c.997A>T (p.Thr333Ser) c.616A>T (p.Thr206Ser) c.1003A>T (p.Thr335Ser) c.970A>T (p.Thr324Ser) | |
| X | g.70035446C>A | CA413449833 | EDA | c.1013C>A (p.Thr338Lys) c.1007C>A (p.Thr336Lys) c.998C>A (p.Thr333Lys) c.617C>A (p.Thr206Lys) c.1004C>A (p.Thr335Lys) c.971C>A (p.Thr324Lys) | |
| X | g.70035446C= | CA2435981931 | EDA | c.1013C= (p.Thr338=) c.1007C= (p.Thr336=) c.998C= (p.Thr333=) c.617C= (p.Thr206=) c.1004C= (p.Thr335=) c.971C= (p.Thr324=) | |
| X | g.70035446C>G | CA413449831 | EDA | c.1013C>G (p.Thr338Arg) c.1007C>G (p.Thr336Arg) c.998C>G (p.Thr333Arg) c.617C>G (p.Thr206Arg) c.1004C>G (p.Thr335Arg) c.971C>G (p.Thr324Arg) | |
| X | g.70035446C>T | CA121314 | EDA | c.1013C>T (p.Thr338Met) c.1007C>T (p.Thr336Met) c.998C>T (p.Thr333Met) c.617C>T (p.Thr206Met) c.1004C>T (p.Thr335Met) c.971C>T (p.Thr324Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.70035447G>A | CA10439041 | EDA | c.1014G>A (p.Thr338=) c.1008G>A (p.Thr336=) c.999G>A (p.Thr333=) c.618G>A (p.Thr206=) c.1005G>A (p.Thr335=) c.972G>A (p.Thr324=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.70035447G>C | CA517015515 | EDA | c.1014G>C (p.Thr338=) c.1008G>C (p.Thr336=) c.999G>C (p.Thr333=) c.618G>C (p.Thr206=) c.1005G>C (p.Thr335=) c.972G>C (p.Thr324=) | gnomAD v4 |
| X | g.70035447G= | CA2435981932 | EDA | c.1014G= (p.Thr338=) c.1008G= (p.Thr336=) c.999G= (p.Thr333=) c.618G= (p.Thr206=) c.1005G= (p.Thr335=) c.972G= (p.Thr324=) | |
| X | g.70035447G>T | CA517015517 | EDA | c.1014G>T (p.Thr338=) c.1008G>T (p.Thr336=) c.999G>T (p.Thr333=) c.618G>T (p.Thr206=) c.1005G>T (p.Thr335=) c.972G>T (p.Thr324=) | |
| X | g.70035448G>A | CA413449850 | EDA | c.1015G>A (p.Gly339Ser) c.1009G>A (p.Gly337Ser) c.1000G>A (p.Gly334Ser) c.619G>A (p.Gly207Ser) c.1006G>A (p.Gly336Ser) c.973G>A (p.Gly325Ser) | dbSNP |
| X | g.70035448G>C | CA413449839 | EDA | c.1015G>C (p.Gly339Arg) c.1009G>C (p.Gly337Arg) c.1000G>C (p.Gly334Arg) c.619G>C (p.Gly207Arg) c.1006G>C (p.Gly336Arg) c.973G>C (p.Gly325Arg) | |
| X | g.70035448G= | CA2435981933 | EDA | c.1015G= (p.Gly339=) c.1009G= (p.Gly337=) c.1000G= (p.Gly334=) c.619G= (p.Gly207=) c.1006G= (p.Gly336=) c.973G= (p.Gly325=) | |
| X | g.70035448G>T | CA413449853 | EDA | c.1015G>T (p.Gly339Cys) c.1009G>T (p.Gly337Cys) c.1000G>T (p.Gly334Cys) c.619G>T (p.Gly207Cys) c.1006G>T (p.Gly336Cys) c.973G>T (p.Gly325Cys) | |
| X | g.70035449G>A | CA413449855 | EDA | c.1016G>A (p.Gly339Asp) c.1010G>A (p.Gly337Asp) c.1001G>A (p.Gly334Asp) c.620G>A (p.Gly207Asp) c.1007G>A (p.Gly336Asp) c.974G>A (p.Gly325Asp) | gnomAD v4 |
| X | g.70035449G>C | CA413449860 | EDA | c.1016G>C (p.Gly339Ala) c.1010G>C (p.Gly337Ala) c.1001G>C (p.Gly334Ala) c.620G>C (p.Gly207Ala) c.1007G>C (p.Gly336Ala) c.974G>C (p.Gly325Ala) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.70035449G= | CA2435981934 | EDA | c.1016G= (p.Gly339=) c.1010G= (p.Gly337=) c.1001G= (p.Gly334=) c.620G= (p.Gly207=) c.1007G= (p.Gly336=) c.974G= (p.Gly325=) | |
| X | g.70035449G>T | CA413449858 | EDA | c.1016G>T (p.Gly339Val) c.1010G>T (p.Gly337Val) c.1001G>T (p.Gly334Val) c.620G>T (p.Gly207Val) c.1007G>T (p.Gly336Val) c.974G>T (p.Gly325Val) | gnomAD v4 |
| X | g.70035450C>A | CA517015526 | EDA | c.1017C>A (p.Gly339=) c.1011C>A (p.Gly337=) c.1002C>A (p.Gly334=) c.621C>A (p.Gly207=) c.1008C>A (p.Gly336=) c.975C>A (p.Gly325=) | |
| X | g.70035450C>G | CA517015529 | EDA | c.1017C>G (p.Gly339=) c.1011C>G (p.Gly337=) c.1002C>G (p.Gly334=) c.621C>G (p.Gly207=) c.1008C>G (p.Gly336=) c.975C>G (p.Gly325=) | |
| X | g.70035450C>T | CA517015528 | EDA | c.1017C>T (p.Gly339=) c.1011C>T (p.Gly337=) c.1002C>T (p.Gly334=) c.621C>T (p.Gly207=) c.1008C>T (p.Gly336=) c.975C>T (p.Gly325=) | gnomAD v4 |
| X | g.70035451A>C | CA413449863 | EDA | c.1018A>C (p.Lys340Gln) c.1012A>C (p.Lys338Gln) c.1003A>C (p.Lys335Gln) c.622A>C (p.Lys208Gln) c.1009A>C (p.Lys337Gln) c.976A>C (p.Lys326Gln) | |
| X | g.70035451A>G | CA413449869 | EDA | c.1018A>G (p.Lys340Glu) c.1012A>G (p.Lys338Glu) c.1003A>G (p.Lys335Glu) c.622A>G (p.Lys208Glu) c.1009A>G (p.Lys337Glu) c.976A>G (p.Lys326Glu) | |
| X | g.70035451A>T | CA413449866 | EDA | c.1018A>T (p.Lys340Ter) c.1012A>T (p.Lys338Ter) c.1003A>T (p.Lys335Ter) c.622A>T (p.Lys208Ter) c.1009A>T (p.Lys337Ter) c.976A>T (p.Lys326Ter) | |
| X | g.70035452A>C | CA413449873 | EDA | c.1019A>C (p.Lys340Thr) c.1013A>C (p.Lys338Thr) c.1004A>C (p.Lys335Thr) c.623A>C (p.Lys208Thr) c.1010A>C (p.Lys337Thr) c.977A>C (p.Lys326Thr) | gnomAD v4 |
| X | g.70035452A>G | CA413449877 | EDA | c.1019A>G (p.Lys340Arg) c.1013A>G (p.Lys338Arg) c.1004A>G (p.Lys335Arg) c.623A>G (p.Lys208Arg) c.1010A>G (p.Lys337Arg) c.977A>G (p.Lys326Arg) | |
| X | g.70035452A>T | CA413449875 | EDA | c.1019A>T (p.Lys340Met) c.1013A>T (p.Lys338Met) c.1004A>T (p.Lys335Met) c.623A>T (p.Lys208Met) c.1010A>T (p.Lys337Met) c.977A>T (p.Lys326Met) | |
| X | g.70035453G>A | CA517015540 | EDA | c.1020G>A (p.Lys340=) c.1014G>A (p.Lys338=) c.1005G>A (p.Lys335=) c.624G>A (p.Lys208=) c.1011G>A (p.Lys337=) c.978G>A (p.Lys326=) | |
| X | g.70035453G>C | CA413449879 | EDA | c.1020G>C (p.Lys340Asn) c.1014G>C (p.Lys338Asn) c.1005G>C (p.Lys335Asn) c.624G>C (p.Lys208Asn) c.1011G>C (p.Lys337Asn) c.978G>C (p.Lys326Asn) | |
| X | g.70035453G= | CA2435981935 | EDA | c.1020G= (p.Lys340=) c.1014G= (p.Lys338=) c.1005G= (p.Lys335=) c.624G= (p.Lys208=) c.1011G= (p.Lys337=) c.978G= (p.Lys326=) | |
| X | g.70035453G>T | CA413449882 | EDA | c.1020G>T (p.Lys340Asn) c.1014G>T (p.Lys338Asn) c.1005G>T (p.Lys335Asn) c.624G>T (p.Lys208Asn) c.1011G>T (p.Lys337Asn) c.978G>T (p.Lys326Asn) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.70035454A>C | CA413449885 | EDA | c.1021A>C (p.Thr341Pro) c.1015A>C (p.Thr339Pro) c.1006A>C (p.Thr336Pro) c.625A>C (p.Thr209Pro) c.1012A>C (p.Thr338Pro) c.979A>C (p.Thr327Pro) | |
| X | g.70035454A>G | CA413449890 | EDA | c.1021A>G (p.Thr341Ala) c.1015A>G (p.Thr339Ala) c.1006A>G (p.Thr336Ala) c.625A>G (p.Thr209Ala) c.1012A>G (p.Thr338Ala) c.979A>G (p.Thr327Ala) | gnomAD v4 |
| X | g.70035454A>T | CA413449888 | EDA | c.1021A>T (p.Thr341Ser) c.1015A>T (p.Thr339Ser) c.1006A>T (p.Thr336Ser) c.625A>T (p.Thr209Ser) c.1012A>T (p.Thr338Ser) c.979A>T (p.Thr327Ser) | |
| X | g.70035455C>A | CA413449893 | EDA | c.1022C>A (p.Thr341Asn) c.1016C>A (p.Thr339Asn) c.1007C>A (p.Thr336Asn) c.626C>A (p.Thr209Asn) c.1013C>A (p.Thr338Asn) c.980C>A (p.Thr327Asn) | |
| X | g.70035455C>G | CA413449895 | EDA | c.1022C>G (p.Thr341Ser) c.1016C>G (p.Thr339Ser) c.1007C>G (p.Thr336Ser) c.626C>G (p.Thr209Ser) c.1013C>G (p.Thr338Ser) c.980C>G (p.Thr327Ser) | |
| X | g.70035455C>T | CA413449898 | EDA | c.1022C>T (p.Thr341Ile) c.1016C>T (p.Thr339Ile) c.1007C>T (p.Thr336Ile) c.626C>T (p.Thr209Ile) c.1013C>T (p.Thr338Ile) c.980C>T (p.Thr327Ile) | ClinVar |
| X | g.70035456C>A | CA517015551 | EDA | c.1023C>A (p.Thr341=) c.1017C>A (p.Thr339=) c.1008C>A (p.Thr336=) c.627C>A (p.Thr209=) c.1014C>A (p.Thr338=) c.981C>A (p.Thr327=) | |
| X | g.70035456C>G | CA517015553 | EDA | c.1023C>G (p.Thr341=) c.1017C>G (p.Thr339=) c.1008C>G (p.Thr336=) c.627C>G (p.Thr209=) c.1014C>G (p.Thr338=) c.981C>G (p.Thr327=) | |
| X | g.70035456C>T | CA517015554 | EDA | c.1023C>T (p.Thr341=) c.1017C>T (p.Thr339=) c.1008C>T (p.Thr336=) c.627C>T (p.Thr209=) c.1014C>T (p.Thr338=) c.981C>T (p.Thr327=) | |
| X | g.70035457A>C | CA413449900 | EDA | c.1024A>C (p.Asn342His) c.1018A>C (p.Asn340His) c.1009A>C (p.Asn337His) c.628A>C (p.Asn210His) c.1015A>C (p.Asn339His) c.982A>C (p.Asn328His) | |
| X | g.70035457A>G | CA413449902 | EDA | c.1024A>G (p.Asn342Asp) c.1018A>G (p.Asn340Asp) c.1009A>G (p.Asn337Asp) c.628A>G (p.Asn210Asp) c.1015A>G (p.Asn339Asp) c.982A>G (p.Asn328Asp) | |
| X | g.70035457A>T | CA413449905 | EDA | c.1024A>T (p.Asn342Tyr) c.1018A>T (p.Asn340Tyr) c.1009A>T (p.Asn337Tyr) c.628A>T (p.Asn210Tyr) c.1015A>T (p.Asn339Tyr) c.982A>T (p.Asn328Tyr) | |
| X | g.70035458A= | CA2435981936 | EDA | c.1025A= (p.Asn342=) c.1019A= (p.Asn340=) c.1010A= (p.Asn337=) c.629A= (p.Asn210=) c.1016A= (p.Asn339=) c.983A= (p.Asn328=) | |
| X | g.70035458A>C | CA413449908 | EDA | c.1025A>C (p.Asn342Thr) c.1019A>C (p.Asn340Thr) c.1010A>C (p.Asn337Thr) c.629A>C (p.Asn210Thr) c.1016A>C (p.Asn339Thr) c.983A>C (p.Asn328Thr) | |
| X | g.70035458A>G | CA413449911 | EDA | c.1025A>G (p.Asn342Ser) c.1019A>G (p.Asn340Ser) c.1010A>G (p.Asn337Ser) c.629A>G (p.Asn210Ser) c.1016A>G (p.Asn339Ser) c.983A>G (p.Asn328Ser) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.70035458A>T | CA413449914 | EDA | c.1025A>T (p.Asn342Ile) c.1019A>T (p.Asn340Ile) c.1010A>T (p.Asn337Ile) c.629A>T (p.Asn210Ile) c.1016A>T (p.Asn339Ile) c.983A>T (p.Asn328Ile) | |
| X | g.70035459C>A | CA413449917 | EDA | c.1026C>A (p.Asn342Lys) c.1020C>A (p.Asn340Lys) c.1011C>A (p.Asn337Lys) c.630C>A (p.Asn210Lys) c.1017C>A (p.Asn339Lys) c.984C>A (p.Asn328Lys) | |
| X | g.70035459C>G | CA413449920 | EDA | c.1026C>G (p.Asn342Lys) c.1020C>G (p.Asn340Lys) c.1011C>G (p.Asn337Lys) c.630C>G (p.Asn210Lys) c.1017C>G (p.Asn339Lys) c.984C>G (p.Asn328Lys) | |
| X | g.70035459C>T | CA517015564 | EDA | c.1026C>T (p.Asn342=) c.1020C>T (p.Asn340=) c.1011C>T (p.Asn337=) c.630C>T (p.Asn210=) c.1017C>T (p.Asn339=) c.984C>T (p.Asn328=) | ClinVar dbSNP |
| X | g.70035460T>A | CA413449923 | EDA | c.1027T>A (p.Tyr343Asn) c.1021T>A (p.Tyr341Asn) c.1012T>A (p.Tyr338Asn) c.631T>A (p.Tyr211Asn) c.1018T>A (p.Tyr340Asn) c.985T>A (p.Tyr329Asn) | |
| X | g.70035460T>C | CA413449929 | EDA | c.1027T>C (p.Tyr343His) c.1021T>C (p.Tyr341His) c.1012T>C (p.Tyr338His) c.631T>C (p.Tyr211His) c.1018T>C (p.Tyr340His) c.985T>C (p.Tyr329His) | gnomAD v4 |
| X | g.70035460T>G | CA413449926 | EDA | c.1027T>G (p.Tyr343Asp) c.1021T>G (p.Tyr341Asp) c.1012T>G (p.Tyr338Asp) c.631T>G (p.Tyr211Asp) c.1018T>G (p.Tyr340Asp) c.985T>G (p.Tyr329Asp) | |
| X | g.70035461A>C | CA413449933 | EDA | c.1028A>C (p.Tyr343Ser) c.1022A>C (p.Tyr341Ser) c.1013A>C (p.Tyr338Ser) c.632A>C (p.Tyr211Ser) c.1019A>C (p.Tyr340Ser) c.986A>C (p.Tyr329Ser) | |
| X | g.70035461A>G | CA413449935 | EDA | c.1028A>G (p.Tyr343Cys) c.1022A>G (p.Tyr341Cys) c.1013A>G (p.Tyr338Cys) c.632A>G (p.Tyr211Cys) c.1019A>G (p.Tyr340Cys) c.986A>G (p.Tyr329Cys) | |
| X | g.70035461A>T | CA413449938 | EDA | c.1028A>T (p.Tyr343Phe) c.1022A>T (p.Tyr341Phe) c.1013A>T (p.Tyr338Phe) c.632A>T (p.Tyr211Phe) c.1019A>T (p.Tyr340Phe) c.986A>T (p.Tyr329Phe) | |
| X | g.70035462del | CA2739273564 | EDA | c.1029del (p.Tyr343Ter) c.1023del (p.Tyr341Ter) c.1014del (p.Tyr338Ter) c.633del (p.Tyr211Ter) c.1020del (p.Tyr340Ter) c.987del (p.Tyr329Ter) | ClinVar |
| X | g.70035462C>A | CA413449941 | EDA | c.1029C>A (p.Tyr343Ter) c.1023C>A (p.Tyr341Ter) c.1014C>A (p.Tyr338Ter) c.633C>A (p.Tyr211Ter) c.1020C>A (p.Tyr340Ter) c.987C>A (p.Tyr329Ter) | |
| X | g.70035462C>G | CA413449944 | EDA | c.1029C>G (p.Tyr343Ter) c.1023C>G (p.Tyr341Ter) c.1014C>G (p.Tyr338Ter) c.633C>G (p.Tyr211Ter) c.1020C>G (p.Tyr340Ter) c.987C>G (p.Tyr329Ter) | ClinVar |
| X | g.70035462C>T | CA517015573 | EDA | c.1029C>T (p.Tyr343=) c.1023C>T (p.Tyr341=) c.1014C>T (p.Tyr338=) c.633C>T (p.Tyr211=) c.1020C>T (p.Tyr340=) c.987C>T (p.Tyr329=) | |
| X | g.70035463A>C | CA413449947 | EDA | c.1030A>C (p.Asn344His) c.1024A>C (p.Asn342His) c.1015A>C (p.Asn339His) c.634A>C (p.Asn212His) c.1021A>C (p.Asn341His) c.988A>C (p.Asn330His) | |
| X | g.70035463A>G | CA413449950 | EDA | c.1030A>G (p.Asn344Asp) c.1024A>G (p.Asn342Asp) c.1015A>G (p.Asn339Asp) c.634A>G (p.Asn212Asp) c.1021A>G (p.Asn341Asp) c.988A>G (p.Asn330Asp) | |
| X | g.70035463A>T | CA413449952 | EDA | c.1030A>T (p.Asn344Tyr) c.1024A>T (p.Asn342Tyr) c.1015A>T (p.Asn339Tyr) c.634A>T (p.Asn212Tyr) c.1021A>T (p.Asn341Tyr) c.988A>T (p.Asn330Tyr) | |
| X | g.70035464A= | CA2435981937 | EDA | c.1031A= (p.Asn344=) c.1025A= (p.Asn342=) c.1016A= (p.Asn339=) c.635A= (p.Asn212=) c.1022A= (p.Asn341=) c.989A= (p.Asn330=) | |
| X | g.70035464A>C | CA413449957 | EDA | c.1031A>C (p.Asn344Thr) c.1025A>C (p.Asn342Thr) c.1016A>C (p.Asn339Thr) c.635A>C (p.Asn212Thr) c.1022A>C (p.Asn341Thr) c.989A>C (p.Asn330Thr) | |
| X | g.70035464A>G | CA413449961 | EDA | c.1031A>G (p.Asn344Ser) c.1025A>G (p.Asn342Ser) c.1016A>G (p.Asn339Ser) c.635A>G (p.Asn212Ser) c.1022A>G (p.Asn341Ser) c.989A>G (p.Asn330Ser) | dbSNP |
| X | g.70035464A>T | CA413449955 | EDA | c.1031A>T (p.Asn344Ile) c.1025A>T (p.Asn342Ile) c.1016A>T (p.Asn339Ile) c.635A>T (p.Asn212Ile) c.1022A>T (p.Asn341Ile) c.989A>T (p.Asn330Ile) | |
| X | g.70035465_70035466insCAAACACACCCAACAC | CA2821677709 | EDA | c.1032_1033insCAAACACACCCAACAC (p.Thr345GlnfsTer29) c.1026_1027insCAAACACACCCAACAC (p.Thr343GlnfsTer29) c.1017_1018insCAAACACACCCAACAC (p.Thr340GlnfsTer29) c.636_637insCAAACACACCCAACAC (p.Thr213GlnfsTer29) c.1023_1024insCAAACACACCCAACAC (p.Thr342GlnfsTer29) c.990_991insCAAACACACCCAACAC (p.Thr331GlnfsTer29) | |
| X | g.70035465C>A | CA413449964 | EDA | c.1032C>A (p.Asn344Lys) c.1026C>A (p.Asn342Lys) c.1017C>A (p.Asn339Lys) c.636C>A (p.Asn212Lys) c.1023C>A (p.Asn341Lys) c.990C>A (p.Asn330Lys) | |
| X | g.70035465C>G | CA413449965 | EDA | c.1032C>G (p.Asn344Lys) c.1026C>G (p.Asn342Lys) c.1017C>G (p.Asn339Lys) c.636C>G (p.Asn212Lys) c.1023C>G (p.Asn341Lys) c.990C>G (p.Asn330Lys) | |
| X | g.70035465C>T | CA517015582 | EDA | c.1032C>T (p.Asn344=) c.1026C>T (p.Asn342=) c.1017C>T (p.Asn339=) c.636C>T (p.Asn212=) c.1023C>T (p.Asn341=) c.990C>T (p.Asn330=) | gnomAD v4 |