Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.43122784_43122787del | CA2687148610 | POMK | c.960_963del (p.Glu320AspfsTer22) c.*756_*759del (n.*756_*759del) c.678_681del (p.Glu226AspfsTer22) c.*880_*883del (n.*880_*883del) c.918_921del (p.Glu306AspfsTer22) c.*745_*748del (n.*745_*748del) | gnomAD v4 |
8 | g.43122784A>C | CA371123061 | POMK | c.960A>C (p.Glu320Asp) c.*756A>C (n.*756A>C) c.678A>C (p.Glu226Asp) c.*880A>C (n.*880A>C) c.918A>C (p.Glu306Asp) c.*745A>C (n.*745A>C) | |
8 | g.43122784A>G | CA460787549 | POMK | c.960A>G (p.Glu320=) c.*756A>G (n.*756A>G) c.678A>G (p.Glu226=) c.*880A>G (n.*880A>G) c.918A>G (p.Glu306=) c.*745A>G (n.*745A>G) | gnomAD v4 |
8 | g.43122784A>T | CA371123060 | POMK | c.960A>T (p.Glu320Asp) c.*756A>T (n.*756A>T) c.678A>T (p.Glu226Asp) c.*880A>T (n.*880A>T) c.918A>T (p.Glu306Asp) c.*745A>T (n.*745A>T) | |
8 | g.43122785A>C | CA460787550 | POMK | c.961A>C (p.Arg321=) c.*757A>C (n.*757A>C) c.679A>C (p.Arg227=) c.*881A>C (n.*881A>C) c.919A>C (p.Arg307=) c.*746A>C (n.*746A>C) | |
8 | g.43122785A>G | CA371123062 | POMK | c.961A>G (p.Arg321Gly) c.*757A>G (n.*757A>G) c.679A>G (p.Arg227Gly) c.*881A>G (n.*881A>G) c.919A>G (p.Arg307Gly) c.*746A>G (n.*746A>G) | |
8 | g.43122785A>T | CA371123063 | POMK | c.961A>T (p.Arg321Ter) c.*757A>T (n.*757A>T) c.679A>T (p.Arg227Ter) c.*881A>T (n.*881A>T) c.919A>T (p.Arg307Ter) c.*746A>T (n.*746A>T) | |
8 | g.43122786G>A | CA371123064 | POMK | c.962G>A (p.Arg321Lys) c.*758G>A (n.*758G>A) c.680G>A (p.Arg227Lys) c.*882G>A (n.*882G>A) c.920G>A (p.Arg307Lys) c.*747G>A (n.*747G>A) | |
8 | g.43122786G>C | CA371123066 | POMK | c.962G>C (p.Arg321Thr) c.*758G>C (n.*758G>C) c.680G>C (p.Arg227Thr) c.*882G>C (n.*882G>C) c.920G>C (p.Arg307Thr) c.*747G>C (n.*747G>C) | |
8 | g.43122786G>T | CA371123065 | POMK | c.962G>T (p.Arg321Ile) c.*758G>T (n.*758G>T) c.680G>T (p.Arg227Ile) c.*882G>T (n.*882G>T) c.920G>T (p.Arg307Ile) c.*747G>T (n.*747G>T) | |
8 | g.43122787A>C | CA371123067 | POMK | c.963A>C (p.Arg321Ser) c.*759A>C (n.*759A>C) c.681A>C (p.Arg227Ser) c.*883A>C (n.*883A>C) c.921A>C (p.Arg307Ser) c.*748A>C (n.*748A>C) | |
8 | g.43122787A>G | CA460787551 | POMK | c.963A>G (p.Arg321=) c.*759A>G (n.*759A>G) c.681A>G (p.Arg227=) c.*883A>G (n.*883A>G) c.921A>G (p.Arg307=) c.*748A>G (n.*748A>G) | |
8 | g.43122787A>T | CA371123068 | POMK | c.963A>T (p.Arg321Ser) c.*759A>T (n.*759A>T) c.681A>T (p.Arg227Ser) c.*883A>T (n.*883A>T) c.921A>T (p.Arg307Ser) c.*748A>T (n.*748A>T) | |
8 | g.43122788C>A | CA371123069 | POMK | c.964C>A (p.Pro322Thr) c.*760C>A (n.*760C>A) c.682C>A (p.Pro228Thr) c.*884C>A (n.*884C>A) c.922C>A (p.Pro308Thr) c.*749C>A (n.*749C>A) | |
8 | g.43122788C>G | CA371123070 | POMK | c.964C>G (p.Pro322Ala) c.*760C>G (n.*760C>G) c.682C>G (p.Pro228Ala) c.*884C>G (n.*884C>G) c.922C>G (p.Pro308Ala) c.*749C>G (n.*749C>G) | |
8 | g.43122788C>T | CA371123071 | POMK | c.964C>T (p.Pro322Ser) c.*760C>T (n.*760C>T) c.682C>T (p.Pro228Ser) c.*884C>T (n.*884C>T) c.922C>T (p.Pro308Ser) c.*749C>T (n.*749C>T) | |
8 | g.43122789C>A | CA371123072 | POMK | c.965C>A (p.Pro322His) c.*761C>A (n.*761C>A) c.683C>A (p.Pro228His) c.*885C>A (n.*885C>A) c.923C>A (p.Pro308His) c.*750C>A (n.*750C>A) | |
8 | g.43122789C= | CA1779748209 | POMK | c.965C= (p.Pro322=) c.*761C= (n.*761C=) c.683C= (p.Pro228=) c.*885C= (n.*885C=) c.923C= (p.Pro308=) c.*750C= (n.*750C=) | |
8 | g.43122789C>G | CA371123073 | POMK | c.965C>G (p.Pro322Arg) c.*761C>G (n.*761C>G) c.683C>G (p.Pro228Arg) c.*885C>G (n.*885C>G) c.923C>G (p.Pro308Arg) c.*750C>G (n.*750C>G) | |
8 | g.43122789C>T | CA4736382 | POMK | c.965C>T (p.Pro322Leu) c.*761C>T (n.*761C>T) c.683C>T (p.Pro228Leu) c.*885C>T (n.*885C>T) c.923C>T (p.Pro308Leu) c.*750C>T (n.*750C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.43122790C>A | CA460787555 | POMK | c.966C>A (p.Pro322=) c.*762C>A (n.*762C>A) c.684C>A (p.Pro228=) c.*886C>A (n.*886C>A) c.924C>A (p.Pro308=) c.*751C>A (n.*751C>A) | |
8 | g.43122790C= | CA1779748213 | POMK | c.966C= (p.Pro322=) c.*762C= (n.*762C=) c.684C= (p.Pro228=) c.*886C= (n.*886C=) c.924C= (p.Pro308=) c.*751C= (n.*751C=) | |
8 | g.43122790C>G | CA460787557 | POMK | c.966C>G (p.Pro322=) c.*762C>G (n.*762C>G) c.684C>G (p.Pro228=) c.*886C>G (n.*886C>G) c.924C>G (p.Pro308=) c.*751C>G (n.*751C>G) | |
8 | g.43122790C>T | CA4736383 | POMK | c.966C>T (p.Pro322=) c.*762C>T (n.*762C>T) c.684C>T (p.Pro228=) c.*886C>T (n.*886C>T) c.924C>T (p.Pro308=) c.*751C>T (n.*751C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.43122791_43122792insACACA | CA2779904299 | POMK | c.967_968insACACA (p.Thr323AsnfsTer22) c.*763_*764insACACA (n.*763_*764insACACA) c.685_686insACACA (p.Thr229AsnfsTer22) c.*887_*888insACACA (n.*887_*888insACACA) c.925_926insACACA (p.Thr309AsnfsTer22) c.*752_*753insACACA (n.*752_*753insACACA) | |
8 | g.43122791A= | CA1779748215 | POMK | c.967A= (p.Thr323=) c.*763A= (n.*763A=) c.685A= (p.Thr229=) c.*887A= (n.*887A=) c.925A= (p.Thr309=) c.*752A= (n.*752A=) | |
8 | g.43122791A>C | CA371123074 | POMK | c.967A>C (p.Thr323Pro) c.*763A>C (n.*763A>C) c.685A>C (p.Thr229Pro) c.*887A>C (n.*887A>C) c.925A>C (p.Thr309Pro) c.*752A>C (n.*752A>C) | dbSNP |
8 | g.43122791A>G | CA4736384 | POMK | c.967A>G (p.Thr323Ala) c.*763A>G (n.*763A>G) c.685A>G (p.Thr229Ala) c.*887A>G (n.*887A>G) c.925A>G (p.Thr309Ala) c.*752A>G (n.*752A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43122791A>T | CA371123075 | POMK | c.967A>T (p.Thr323Ser) c.*763A>T (n.*763A>T) c.685A>T (p.Thr229Ser) c.*887A>T (n.*887A>T) c.925A>T (p.Thr309Ser) c.*752A>T (n.*752A>T) | |
8 | g.43122792C>A | CA371123076 | POMK | c.968C>A (p.Thr323Asn) c.*764C>A (n.*764C>A) c.686C>A (p.Thr229Asn) c.*888C>A (n.*888C>A) c.926C>A (p.Thr309Asn) c.*753C>A (n.*753C>A) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.43122792C= | CA1779748218 | POMK | c.968C= (p.Thr323=) c.*764C= (n.*764C=) c.686C= (p.Thr229=) c.*888C= (n.*888C=) c.926C= (p.Thr309=) c.*753C= (n.*753C=) | |
8 | g.43122792C>G | CA371123077 | POMK | c.968C>G (p.Thr323Ser) c.*764C>G (n.*764C>G) c.686C>G (p.Thr229Ser) c.*888C>G (n.*888C>G) c.926C>G (p.Thr309Ser) c.*753C>G (n.*753C>G) | |
8 | g.43122792C>T | CA176080807 | POMK | c.968C>T (p.Thr323Ile) c.*764C>T (n.*764C>T) c.686C>T (p.Thr229Ile) c.*888C>T (n.*888C>T) c.926C>T (p.Thr309Ile) c.*753C>T (n.*753C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43122793T>A | CA460787560 | POMK | c.969T>A (p.Thr323=) c.*765T>A (n.*765T>A) c.687T>A (p.Thr229=) c.*889T>A (n.*889T>A) c.927T>A (p.Thr309=) c.*754T>A (n.*754T>A) | |
8 | g.43122793T>C | CA460787561 | POMK | c.969T>C (p.Thr323=) c.*765T>C (n.*765T>C) c.687T>C (p.Thr229=) c.*889T>C (n.*889T>C) c.927T>C (p.Thr309=) c.*754T>C (n.*754T>C) | |
8 | g.43122793T>G | CA460787562 | POMK | c.969T>G (p.Thr323=) c.*765T>G (n.*765T>G) c.687T>G (p.Thr229=) c.*889T>G (n.*889T>G) c.927T>G (p.Thr309=) c.*754T>G (n.*754T>G) | |
8 | g.43122794G>A | CA371123078 | POMK | c.970G>A (p.Ala324Thr) c.*766G>A (n.*766G>A) c.688G>A (p.Ala230Thr) c.*890G>A (n.*890G>A) c.928G>A (p.Ala310Thr) c.*755G>A (n.*755G>A) | gnomAD v4 |
8 | g.43122794G>C | CA371123079 | POMK | c.970G>C (p.Ala324Pro) c.*766G>C (n.*766G>C) c.688G>C (p.Ala230Pro) c.*890G>C (n.*890G>C) c.928G>C (p.Ala310Pro) c.*755G>C (n.*755G>C) | |
8 | g.43122794G>T | CA371123080 | POMK | c.970G>T (p.Ala324Ser) c.*766G>T (n.*766G>T) c.688G>T (p.Ala230Ser) c.*890G>T (n.*890G>T) c.928G>T (p.Ala310Ser) c.*755G>T (n.*755G>T) | ClinVar gnomAD v4 |
8 | g.43122795C>A | CA371123081 | POMK | c.971C>A (p.Ala324Asp) c.*767C>A (n.*767C>A) c.689C>A (p.Ala230Asp) c.*891C>A (n.*891C>A) c.929C>A (p.Ala310Asp) c.*756C>A (n.*756C>A) | |
8 | g.43122795C= | CA1779748223 | POMK | c.971C= (p.Ala324=) c.*767C= (n.*767C=) c.689C= (p.Ala230=) c.*891C= (n.*891C=) c.929C= (p.Ala310=) c.*756C= (n.*756C=) | |
8 | g.43122795C>G | CA371123082 | POMK | c.971C>G (p.Ala324Gly) c.*767C>G (n.*767C>G) c.689C>G (p.Ala230Gly) c.*891C>G (n.*891C>G) c.929C>G (p.Ala310Gly) c.*756C>G (n.*756C>G) | |
8 | g.43122795C>T | CA4736385 | POMK | c.971C>T (p.Ala324Val) c.*767C>T (n.*767C>T) c.689C>T (p.Ala230Val) c.*891C>T (n.*891C>T) c.929C>T (p.Ala310Val) c.*756C>T (n.*756C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.43122796C>A | CA460787568 | POMK | c.972C>A (p.Ala324=) c.*768C>A (n.*768C>A) c.690C>A (p.Ala230=) c.*892C>A (n.*892C>A) c.930C>A (p.Ala310=) c.*757C>A (n.*757C>A) | |
8 | g.43122796C>G | CA460787566 | POMK | c.972C>G (p.Ala324=) c.*768C>G (n.*768C>G) c.690C>G (p.Ala230=) c.*892C>G (n.*892C>G) c.930C>G (p.Ala310=) c.*757C>G (n.*757C>G) | |
8 | g.43122796C>T | CA460787567 | POMK | c.972C>T (p.Ala324=) c.*768C>T (n.*768C>T) c.690C>T (p.Ala230=) c.*892C>T (n.*892C>T) c.930C>T (p.Ala310=) c.*757C>T (n.*757C>T) | COSMIC COSMIC |
8 | g.43122797C>A | CA371123083 | POMK | c.973C>A (p.Gln325Lys) c.*769C>A (n.*769C>A) c.691C>A (p.Gln231Lys) c.*893C>A (n.*893C>A) c.931C>A (p.Gln311Lys) c.*758C>A (n.*758C>A) | |
8 | g.43122797C>G | CA371123084 | POMK | c.973C>G (p.Gln325Glu) c.*769C>G (n.*769C>G) c.691C>G (p.Gln231Glu) c.*893C>G (n.*893C>G) c.931C>G (p.Gln311Glu) c.*758C>G (n.*758C>G) | |
8 | g.43122797C>T | CA371123085 | POMK | c.973C>T (p.Gln325Ter) c.*769C>T (n.*769C>T) c.691C>T (p.Gln231Ter) c.*893C>T (n.*893C>T) c.931C>T (p.Gln311Ter) c.*758C>T (n.*758C>T) | gnomAD v4 |
8 | g.43122798A>C | CA371123087 | POMK | c.974A>C (p.Gln325Pro) c.*770A>C (n.*770A>C) c.692A>C (p.Gln231Pro) c.*894A>C (n.*894A>C) c.932A>C (p.Gln311Pro) c.*759A>C (n.*759A>C) | |
8 | g.43122798A>G | CA371123088 | POMK | c.974A>G (p.Gln325Arg) c.*770A>G (n.*770A>G) c.692A>G (p.Gln231Arg) c.*894A>G (n.*894A>G) c.932A>G (p.Gln311Arg) c.*759A>G (n.*759A>G) | |
8 | g.43122798A>T | CA371123086 | POMK | c.974A>T (p.Gln325Leu) c.*770A>T (n.*770A>T) c.692A>T (p.Gln231Leu) c.*894A>T (n.*894A>T) c.932A>T (p.Gln311Leu) c.*759A>T (n.*759A>T) | |
8 | g.43122799G>A | CA460787569 | POMK | c.975G>A (p.Gln325=) c.*771G>A (n.*771G>A) c.693G>A (p.Gln231=) c.*895G>A (n.*895G>A) c.933G>A (p.Gln311=) c.*760G>A (n.*760G>A) | |
8 | g.43122799G>C | CA371123089 | POMK | c.975G>C (p.Gln325His) c.*771G>C (n.*771G>C) c.693G>C (p.Gln231His) c.*895G>C (n.*895G>C) c.933G>C (p.Gln311His) c.*760G>C (n.*760G>C) | |
8 | g.43122799G>T | CA371123090 | POMK | c.975G>T (p.Gln325His) c.*771G>T (n.*771G>T) c.693G>T (p.Gln231His) c.*895G>T (n.*895G>T) c.933G>T (p.Gln311His) c.*760G>T (n.*760G>T) | |
8 | g.43122800G>A | CA371123091 | POMK | c.976G>A (p.Asp326Asn) c.*772G>A (n.*772G>A) c.694G>A (p.Asp232Asn) c.*896G>A (n.*896G>A) c.934G>A (p.Asp312Asn) c.*761G>A (n.*761G>A) | |
8 | g.43122800G>C | CA371123092 | POMK | c.976G>C (p.Asp326His) c.*772G>C (n.*772G>C) c.694G>C (p.Asp232His) c.*896G>C (n.*896G>C) c.934G>C (p.Asp312His) c.*761G>C (n.*761G>C) | |
8 | g.43122800G>T | CA371123093 | POMK | c.976G>T (p.Asp326Tyr) c.*772G>T (n.*772G>T) c.694G>T (p.Asp232Tyr) c.*896G>T (n.*896G>T) c.934G>T (p.Asp312Tyr) c.*761G>T (n.*761G>T) | |
8 | g.43122801A>C | CA371123094 | POMK | c.977A>C (p.Asp326Ala) c.*773A>C (n.*773A>C) c.695A>C (p.Asp232Ala) c.*897A>C (n.*897A>C) c.935A>C (p.Asp312Ala) c.*762A>C (n.*762A>C) | |
8 | g.43122801A>G | CA371123095 | POMK | c.977A>G (p.Asp326Gly) c.*773A>G (n.*773A>G) c.695A>G (p.Asp232Gly) c.*897A>G (n.*897A>G) c.935A>G (p.Asp312Gly) c.*762A>G (n.*762A>G) | |
8 | g.43122801A>T | CA371123096 | POMK | c.977A>T (p.Asp326Val) c.*773A>T (n.*773A>T) c.695A>T (p.Asp232Val) c.*897A>T (n.*897A>T) c.935A>T (p.Asp312Val) c.*762A>T (n.*762A>T) | |
8 | g.43122802C>A | CA371123097 | POMK | c.978C>A (p.Asp326Glu) c.*774C>A (n.*774C>A) c.696C>A (p.Asp232Glu) c.*898C>A (n.*898C>A) c.936C>A (p.Asp312Glu) c.*763C>A (n.*763C>A) | |
8 | g.43122802C= | CA1779748228 | POMK | c.978C= (p.Asp326=) c.*774C= (n.*774C=) c.696C= (p.Asp232=) c.*898C= (n.*898C=) c.936C= (p.Asp312=) c.*763C= (n.*763C=) | |
8 | g.43122802C>G | CA371123098 | POMK | c.978C>G (p.Asp326Glu) c.*774C>G (n.*774C>G) c.696C>G (p.Asp232Glu) c.*898C>G (n.*898C>G) c.936C>G (p.Asp312Glu) c.*763C>G (n.*763C>G) | |
8 | g.43122802C>T | CA4736387 | POMK | c.978C>T (p.Asp326=) c.*774C>T (n.*774C>T) c.696C>T (p.Asp232=) c.*898C>T (n.*898C>T) c.936C>T (p.Asp312=) c.*763C>T (n.*763C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43122802_43122803delinsCG | CA1779748229 | POMK | c.978_979delinsCG (p.Asp326=) c.*774_*775delinsCG (n.*774_*775delinsCG) c.696_697delinsCG (p.Asp232=) c.*898_*899delinsCG (n.*898_*899delinsCG) c.936_937delinsCG (p.Asp312=) c.*763_*764delinsCG (n.*763_*764delinsCG) | |
8 | g.43122803del | CA4736386 | POMK | c.979del (p.Val327PhefsTer16) c.*775del (n.*775del) c.697del (p.Val233PhefsTer16) c.*899del (n.*899del) c.937del (p.Val313PhefsTer16) c.*764del (n.*764del) | dbSNP ExAC gnomAD v4 |
8 | g.43122803G>A | CA4736388 | POMK | c.979G>A (p.Val327Ile) c.*775G>A (n.*775G>A) c.697G>A (p.Val233Ile) c.*899G>A (n.*899G>A) c.937G>A (p.Val313Ile) c.*764G>A (n.*764G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.43122803G>C | CA371123100 | POMK | c.979G>C (p.Val327Leu) c.*775G>C (n.*775G>C) c.697G>C (p.Val233Leu) c.*899G>C (n.*899G>C) c.937G>C (p.Val313Leu) c.*764G>C (n.*764G>C) | ClinVar dbSNP gnomAD v4 |
8 | g.43122803G= | CA1779748237 | POMK | c.979G= (p.Val327=) c.*775G= (n.*775G=) c.697G= (p.Val233=) c.*899G= (n.*899G=) c.937G= (p.Val313=) c.*764G= (n.*764G=) | |
8 | g.43122803G>T | CA371123099 | POMK | c.979G>T (p.Val327Phe) c.*775G>T (n.*775G>T) c.697G>T (p.Val233Phe) c.*899G>T (n.*899G>T) c.937G>T (p.Val313Phe) c.*764G>T (n.*764G>T) | gnomAD v4 |
8 | g.43122804T>A | CA371123101 | POMK | c.980T>A (p.Val327Asp) c.*776T>A (n.*776T>A) c.698T>A (p.Val233Asp) c.*900T>A (n.*900T>A) c.938T>A (p.Val313Asp) c.*765T>A (n.*765T>A) | |
8 | g.43122804T>C | CA371123102 | POMK | c.980T>C (p.Val327Ala) c.*776T>C (n.*776T>C) c.698T>C (p.Val233Ala) c.*900T>C (n.*900T>C) c.938T>C (p.Val313Ala) c.*765T>C (n.*765T>C) | gnomAD v4 |
8 | g.43122804T>G | CA371123103 | POMK | c.980T>G (p.Val327Gly) c.*776T>G (n.*776T>G) c.698T>G (p.Val233Gly) c.*900T>G (n.*900T>G) c.938T>G (p.Val313Gly) c.*765T>G (n.*765T>G) | |
8 | g.43122805T>A | CA460787574 | POMK | c.981T>A (p.Val327=) c.*777T>A (n.*777T>A) c.699T>A (p.Val233=) c.*901T>A (n.*901T>A) c.939T>A (p.Val313=) c.*766T>A (n.*766T>A) | |
8 | g.43122805T>C | CA460787575 | POMK | c.981T>C (p.Val327=) c.*777T>C (n.*777T>C) c.699T>C (p.Val233=) c.*901T>C (n.*901T>C) c.939T>C (p.Val313=) c.*766T>C (n.*766T>C) | |
8 | g.43122805T>G | CA460787576 | POMK | c.981T>G (p.Val327=) c.*777T>G (n.*777T>G) c.699T>G (p.Val233=) c.*901T>G (n.*901T>G) c.939T>G (p.Val313=) c.*766T>G (n.*766T>G) | |
8 | g.43122806C>A | CA371123104 | POMK | c.982C>A (p.Leu328Met) c.*778C>A (n.*778C>A) c.700C>A (p.Leu234Met) c.*902C>A (n.*902C>A) c.940C>A (p.Leu314Met) c.*767C>A (n.*767C>A) | |
8 | g.43122806C>G | CA371123105 | POMK | c.982C>G (p.Leu328Val) c.*778C>G (n.*778C>G) c.700C>G (p.Leu234Val) c.*902C>G (n.*902C>G) c.940C>G (p.Leu314Val) c.*767C>G (n.*767C>G) | |
8 | g.43122806C>T | CA460787577 | POMK | c.982C>T (p.Leu328=) c.*778C>T (n.*778C>T) c.700C>T (p.Leu234=) c.*902C>T (n.*902C>T) c.940C>T (p.Leu314=) c.*767C>T (n.*767C>T) | |
8 | g.43122807T>A | CA371123108 | POMK | c.983T>A (p.Leu328Gln) c.*779T>A (n.*779T>A) c.701T>A (p.Leu234Gln) c.*903T>A (n.*903T>A) c.941T>A (p.Leu314Gln) c.*768T>A (n.*768T>A) | |
8 | g.43122807T>C | CA371123106 | POMK | c.983T>C (p.Leu328Pro) c.*779T>C (n.*779T>C) c.701T>C (p.Leu234Pro) c.*903T>C (n.*903T>C) c.941T>C (p.Leu314Pro) c.*768T>C (n.*768T>C) | |
8 | g.43122807T>G | CA371123107 | POMK | c.983T>G (p.Leu328Arg) c.*779T>G (n.*779T>G) c.701T>G (p.Leu234Arg) c.*903T>G (n.*903T>G) c.941T>G (p.Leu314Arg) c.*768T>G (n.*768T>G) | |
8 | g.43122808G>A | CA460787581 | POMK | c.984G>A (p.Leu328=) c.*780G>A (n.*780G>A) c.702G>A (p.Leu234=) c.*904G>A (n.*904G>A) c.942G>A (p.Leu314=) c.*769G>A (n.*769G>A) | |
8 | g.43122808G>C | CA460787582 | POMK | c.984G>C (p.Leu328=) c.*780G>C (n.*780G>C) c.702G>C (p.Leu234=) c.*904G>C (n.*904G>C) c.942G>C (p.Leu314=) c.*769G>C (n.*769G>C) | |
8 | g.43122808G>T | CA460787583 | POMK | c.984G>T (p.Leu328=) c.*780G>T (n.*780G>T) c.702G>T (p.Leu234=) c.*904G>T (n.*904G>T) c.942G>T (p.Leu314=) c.*769G>T (n.*769G>T) | |
8 | g.43122809G>A | CA371123109 | POMK | c.985G>A (p.Glu329Lys) c.*781G>A (n.*781G>A) c.703G>A (p.Glu235Lys) c.*905G>A (n.*905G>A) c.943G>A (p.Glu315Lys) c.*770G>A (n.*770G>A) | |
8 | g.43122809G>C | CA371123110 | POMK | c.985G>C (p.Glu329Gln) c.*781G>C (n.*781G>C) c.703G>C (p.Glu235Gln) c.*905G>C (n.*905G>C) c.943G>C (p.Glu315Gln) c.*770G>C (n.*770G>C) | |
8 | g.43122809G>T | CA371123111 | POMK | c.985G>T (p.Glu329Ter) c.*781G>T (n.*781G>T) c.703G>T (p.Glu235Ter) c.*905G>T (n.*905G>T) c.943G>T (p.Glu315Ter) c.*770G>T (n.*770G>T) | |
8 | g.43122810A>C | CA371123112 | POMK | c.986A>C (p.Glu329Ala) c.*782A>C (n.*782A>C) c.704A>C (p.Glu235Ala) c.*906A>C (n.*906A>C) c.944A>C (p.Glu315Ala) c.*771A>C (n.*771A>C) | |
8 | g.43122810A>G | CA371123113 | POMK | c.986A>G (p.Glu329Gly) c.*782A>G (n.*782A>G) c.704A>G (p.Glu235Gly) c.*906A>G (n.*906A>G) c.944A>G (p.Glu315Gly) c.*771A>G (n.*771A>G) | COSMIC COSMIC |
8 | g.43122810A>T | CA371123114 | POMK | c.986A>T (p.Glu329Val) c.*782A>T (n.*782A>T) c.704A>T (p.Glu235Val) c.*906A>T (n.*906A>T) c.944A>T (p.Glu315Val) c.*771A>T (n.*771A>T) | |
8 | g.43122811G>A | CA460787584 | POMK | c.987G>A (p.Glu329=) c.*783G>A (n.*783G>A) c.705G>A (p.Glu235=) c.*907G>A (n.*907G>A) c.945G>A (p.Glu315=) c.*772G>A (n.*772G>A) | |
8 | g.43122811G>C | CA371123116 | POMK | c.987G>C (p.Glu329Asp) c.*783G>C (n.*783G>C) c.705G>C (p.Glu235Asp) c.*907G>C (n.*907G>C) c.945G>C (p.Glu315Asp) c.*772G>C (n.*772G>C) | |
8 | g.43122811G>T | CA371123115 | POMK | c.987G>T (p.Glu329Asp) c.*783G>T (n.*783G>T) c.705G>T (p.Glu235Asp) c.*907G>T (n.*907G>T) c.945G>T (p.Glu315Asp) c.*772G>T (n.*772G>T) | |
8 | g.43122812A>C | CA371123117 | POMK | c.988A>C (p.Thr330Pro) c.*784A>C (n.*784A>C) c.706A>C (p.Thr236Pro) c.*908A>C (n.*908A>C) c.946A>C (p.Thr316Pro) c.*773A>C (n.*773A>C) | |
8 | g.43122812A>G | CA371123121 | POMK | c.988A>G (p.Thr330Ala) c.*784A>G (n.*784A>G) c.706A>G (p.Thr236Ala) c.*908A>G (n.*908A>G) c.946A>G (p.Thr316Ala) c.*773A>G (n.*773A>G) | |
8 | g.43122812A>T | CA371123119 | POMK | c.988A>T (p.Thr330Ser) c.*784A>T (n.*784A>T) c.706A>T (p.Thr236Ser) c.*908A>T (n.*908A>T) c.946A>T (p.Thr316Ser) c.*773A>T (n.*773A>T) | |
8 | g.43122813C>A | CA371123123 | POMK | c.989C>A (p.Thr330Asn) c.*785C>A (n.*785C>A) c.707C>A (p.Thr236Asn) c.*909C>A (n.*909C>A) c.947C>A (p.Thr316Asn) c.*774C>A (n.*774C>A) | gnomAD v4 |
8 | g.43122813C= | CA1779748243 | POMK | c.989C= (p.Thr330=) c.*785C= (n.*785C=) c.707C= (p.Thr236=) c.*909C= (n.*909C=) c.947C= (p.Thr316=) c.*774C= (n.*774C=) | |
8 | g.43122813C>G | CA371123125 | POMK | c.989C>G (p.Thr330Ser) c.*785C>G (n.*785C>G) c.707C>G (p.Thr236Ser) c.*909C>G (n.*909C>G) c.947C>G (p.Thr316Ser) c.*774C>G (n.*774C>G) | |
8 | g.43122813C>T | CA4736389 | POMK | c.989C>T (p.Thr330Ile) c.*785C>T (n.*785C>T) c.707C>T (p.Thr236Ile) c.*909C>T (n.*909C>T) c.947C>T (p.Thr316Ile) c.*774C>T (n.*774C>T) | dbSNP ExAC gnomAD v2 |
8 | g.43122814C>A | CA460787587 | POMK | c.990C>A (p.Thr330=) c.*786C>A (n.*786C>A) c.708C>A (p.Thr236=) c.*910C>A (n.*910C>A) c.948C>A (p.Thr316=) c.*775C>A (n.*775C>A) | |
8 | g.43122814C>G | CA460787588 | POMK | c.990C>G (p.Thr330=) c.*786C>G (n.*786C>G) c.708C>G (p.Thr236=) c.*910C>G (n.*910C>G) c.948C>G (p.Thr316=) c.*775C>G (n.*775C>G) | |
8 | g.43122814C>T | CA460787589 | POMK | c.990C>T (p.Thr330=) c.*786C>T (n.*786C>T) c.708C>T (p.Thr236=) c.*910C>T (n.*910C>T) c.948C>T (p.Thr316=) c.*775C>T (n.*775C>T) | |
8 | g.43122815T>A | CA371123129 | POMK | c.991T>A (p.Tyr331Asn) c.*787T>A (n.*787T>A) c.709T>A (p.Tyr237Asn) c.*911T>A (n.*911T>A) c.949T>A (p.Tyr317Asn) c.*776T>A (n.*776T>A) | |
8 | g.43122815T>C | CA371123131 | POMK | c.991T>C (p.Tyr331His) c.*787T>C (n.*787T>C) c.709T>C (p.Tyr237His) c.*911T>C (n.*911T>C) c.949T>C (p.Tyr317His) c.*776T>C (n.*776T>C) | gnomAD v4 |
8 | g.43122815T>G | CA371123133 | POMK | c.991T>G (p.Tyr331Asp) c.*787T>G (n.*787T>G) c.709T>G (p.Tyr237Asp) c.*911T>G (n.*911T>G) c.949T>G (p.Tyr317Asp) c.*776T>G (n.*776T>G) | |
8 | g.43122816A>C | CA371123139 | POMK | c.992A>C (p.Tyr331Ser) c.*788A>C (n.*788A>C) c.710A>C (p.Tyr237Ser) c.*912A>C (n.*912A>C) c.950A>C (p.Tyr317Ser) c.*777A>C (n.*777A>C) | |
8 | g.43122816A>G | CA371123135 | POMK | c.992A>G (p.Tyr331Cys) c.*788A>G (n.*788A>G) c.710A>G (p.Tyr237Cys) c.*912A>G (n.*912A>G) c.950A>G (p.Tyr317Cys) c.*777A>G (n.*777A>G) | |
8 | g.43122816A>T | CA371123138 | POMK | c.992A>T (p.Tyr331Phe) c.*788A>T (n.*788A>T) c.710A>T (p.Tyr237Phe) c.*912A>T (n.*912A>T) c.950A>T (p.Tyr317Phe) c.*777A>T (n.*777A>T) | |
8 | g.43122817C>A | CA371123142 | POMK | c.993C>A (p.Tyr331Ter) c.*789C>A (n.*789C>A) c.711C>A (p.Tyr237Ter) c.*913C>A (n.*913C>A) c.951C>A (p.Tyr317Ter) c.*778C>A (n.*778C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43122817C= | CA1779748246 | POMK | c.993C= (p.Tyr331=) c.*789C= (n.*789C=) c.711C= (p.Tyr237=) c.*913C= (n.*913C=) c.951C= (p.Tyr317=) c.*778C= (n.*778C=) | |
8 | g.43122817C>G | CA371123144 | POMK | c.993C>G (p.Tyr331Ter) c.*789C>G (n.*789C>G) c.711C>G (p.Tyr237Ter) c.*913C>G (n.*913C>G) c.951C>G (p.Tyr317Ter) c.*778C>G (n.*778C>G) | |
8 | g.43122817C>T | CA460787591 | POMK | c.993C>T (p.Tyr331=) c.*789C>T (n.*789C>T) c.711C>T (p.Tyr237=) c.*913C>T (n.*913C>T) c.951C>T (p.Tyr317=) c.*778C>T (n.*778C>T) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.43122818C>A | CA371123147 | POMK | c.994C>A (p.Gln332Lys) c.*790C>A (n.*790C>A) c.712C>A (p.Gln238Lys) c.*914C>A (n.*914C>A) c.952C>A (p.Gln318Lys) c.*779C>A (n.*779C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43122818C= | CA1779748252 | POMK | c.994C= (p.Gln332=) c.*790C= (n.*790C=) c.712C= (p.Gln238=) c.*914C= (n.*914C=) c.952C= (p.Gln318=) c.*779C= (n.*779C=) | |
8 | g.43122818C>G | CA371123148 | POMK | c.994C>G (p.Gln332Glu) c.*790C>G (n.*790C>G) c.712C>G (p.Gln238Glu) c.*914C>G (n.*914C>G) c.952C>G (p.Gln318Glu) c.*779C>G (n.*779C>G) | |
8 | g.43122818C>T | CA371123151 | POMK | c.994C>T (p.Gln332Ter) c.*790C>T (n.*790C>T) c.712C>T (p.Gln238Ter) c.*914C>T (n.*914C>T) c.952C>T (p.Gln318Ter) c.*779C>T (n.*779C>T) | gnomAD v4 |
8 | g.43122819A>C | CA371123153 | POMK | c.995A>C (p.Gln332Pro) c.*791A>C (n.*791A>C) c.713A>C (p.Gln238Pro) c.*915A>C (n.*915A>C) c.953A>C (p.Gln318Pro) c.*780A>C (n.*780A>C) | |
8 | g.43122819A>G | CA371123157 | POMK | c.995A>G (p.Gln332Arg) c.*791A>G (n.*791A>G) c.713A>G (p.Gln238Arg) c.*915A>G (n.*915A>G) c.953A>G (p.Gln318Arg) c.*780A>G (n.*780A>G) | COSMIC COSMIC |
8 | g.43122819A>T | CA371123156 | POMK | c.995A>T (p.Gln332Leu) c.*791A>T (n.*791A>T) c.713A>T (p.Gln238Leu) c.*915A>T (n.*915A>T) c.953A>T (p.Gln318Leu) c.*780A>T (n.*780A>T) | |
8 | g.43122820G>A | CA460787592 | POMK | c.996G>A (p.Gln332=) c.*792G>A (n.*792G>A) c.714G>A (p.Gln238=) c.*916G>A (n.*916G>A) c.954G>A (p.Gln318=) c.*781G>A (n.*781G>A) | |
8 | g.43122820G>C | CA371123159 | POMK | c.996G>C (p.Gln332His) c.*792G>C (n.*792G>C) c.714G>C (p.Gln238His) c.*916G>C (n.*916G>C) c.954G>C (p.Gln318His) c.*781G>C (n.*781G>C) | |
8 | g.43122820G>T | CA371123161 | POMK | c.996G>T (p.Gln332His) c.*792G>T (n.*792G>T) c.714G>T (p.Gln238His) c.*916G>T (n.*916G>T) c.954G>T (p.Gln318His) c.*781G>T (n.*781G>T) | |
8 | g.43122821A>C | CA371123163 | POMK | c.997A>C (p.Lys333Gln) c.*793A>C (n.*793A>C) c.715A>C (p.Lys239Gln) c.*917A>C (n.*917A>C) c.955A>C (p.Lys319Gln) c.*782A>C (n.*782A>C) | |
8 | g.43122821A>G | CA371123165 | POMK | c.997A>G (p.Lys333Glu) c.*793A>G (n.*793A>G) c.715A>G (p.Lys239Glu) c.*917A>G (n.*917A>G) c.955A>G (p.Lys319Glu) c.*782A>G (n.*782A>G) | |
8 | g.43122821A>T | CA371123167 | POMK | c.997A>T (p.Lys333Ter) c.*793A>T (n.*793A>T) c.715A>T (p.Lys239Ter) c.*917A>T (n.*917A>T) c.955A>T (p.Lys319Ter) c.*782A>T (n.*782A>T) | |
8 | g.43122822A>C | CA371123170 | POMK | c.998A>C (p.Lys333Thr) c.*794A>C (n.*794A>C) c.716A>C (p.Lys239Thr) c.*918A>C (n.*918A>C) c.956A>C (p.Lys319Thr) c.*783A>C (n.*783A>C) | |
8 | g.43122822A>G | CA371123172 | POMK | c.998A>G (p.Lys333Arg) c.*794A>G (n.*794A>G) c.716A>G (p.Lys239Arg) c.*918A>G (n.*918A>G) c.956A>G (p.Lys319Arg) c.*783A>G (n.*783A>G) | |
8 | g.43122822A>T | CA371123173 | POMK | c.998A>T (p.Lys333Met) c.*794A>T (n.*794A>T) c.716A>T (p.Lys239Met) c.*918A>T (n.*918A>T) c.956A>T (p.Lys319Met) c.*783A>T (n.*783A>T) | |
8 | g.43122823G>A | CA460787594 | POMK | c.999G>A (p.Lys333=) c.*795G>A (n.*795G>A) c.717G>A (p.Lys239=) c.*919G>A (n.*919G>A) c.957G>A (p.Lys319=) c.*784G>A (n.*784G>A) | gnomAD v4 |
8 | g.43122823G>C | CA371123176 | POMK | c.999G>C (p.Lys333Asn) c.*795G>C (n.*795G>C) c.717G>C (p.Lys239Asn) c.*919G>C (n.*919G>C) c.957G>C (p.Lys319Asn) c.*784G>C (n.*784G>C) | |
8 | g.43122823G>T | CA371123178 | POMK | c.999G>T (p.Lys333Asn) c.*795G>T (n.*795G>T) c.717G>T (p.Lys239Asn) c.*919G>T (n.*919G>T) c.957G>T (p.Lys319Asn) c.*784G>T (n.*784G>T) | |
8 | g.43122824G>A | CA371123184 | POMK | c.1000G>A (p.Val334Ile) c.*796G>A (n.*796G>A) c.718G>A (p.Val240Ile) c.*920G>A (n.*920G>A) c.958G>A (p.Val320Ile) c.*785G>A (n.*785G>A) | |
8 | g.43122824G>C | CA371123182 | POMK | c.1000G>C (p.Val334Leu) c.*796G>C (n.*796G>C) c.718G>C (p.Val240Leu) c.*920G>C (n.*920G>C) c.958G>C (p.Val320Leu) c.*785G>C (n.*785G>C) | |
8 | g.43122824G>T | CA371123180 | POMK | c.1000G>T (p.Val334Phe) c.*796G>T (n.*796G>T) c.718G>T (p.Val240Phe) c.*920G>T (n.*920G>T) c.958G>T (p.Val320Phe) c.*785G>T (n.*785G>T) | |
8 | g.43122825T>A | CA371123187 | POMK | c.1001T>A (p.Val334Asp) c.*797T>A (n.*797T>A) c.719T>A (p.Val240Asp) c.*921T>A (n.*921T>A) c.959T>A (p.Val320Asp) c.*786T>A (n.*786T>A) | |
8 | g.43122825T>C | CA371123189 | POMK | c.1001T>C (p.Val334Ala) c.*797T>C (n.*797T>C) c.719T>C (p.Val240Ala) c.*921T>C (n.*921T>C) c.959T>C (p.Val320Ala) c.*786T>C (n.*786T>C) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.43122825T>G | CA371123191 | POMK | c.1001T>G (p.Val334Gly) c.*797T>G (n.*797T>G) c.719T>G (p.Val240Gly) c.*921T>G (n.*921T>G) c.959T>G (p.Val320Gly) c.*786T>G (n.*786T>G) | |
8 | g.43122825T= | CA1779748257 | POMK | c.1001T= (p.Val334=) c.*797T= (n.*797T=) c.719T= (p.Val240=) c.*921T= (n.*921T=) c.959T= (p.Val320=) c.*786T= (n.*786T=) | |
8 | g.43122826C>A | CA460787596 | POMK | c.1002C>A (p.Val334=) c.*798C>A (n.*798C>A) c.720C>A (p.Val240=) c.*922C>A (n.*922C>A) c.960C>A (p.Val320=) c.*787C>A (n.*787C>A) | |
8 | g.43122826C= | CA1779748263 | POMK | c.1002C= (p.Val334=) c.*798C= (n.*798C=) c.720C= (p.Val240=) c.*922C= (n.*922C=) c.960C= (p.Val320=) c.*787C= (n.*787C=) | |
8 | g.43122826C>G | CA460787597 | POMK | c.1002C>G (p.Val334=) c.*798C>G (n.*798C>G) c.720C>G (p.Val240=) c.*922C>G (n.*922C>G) c.960C>G (p.Val320=) c.*787C>G (n.*787C>G) | dbSNP |
8 | g.43122826C>T | CA460787598 | POMK | c.1002C>T (p.Val334=) c.*798C>T (n.*798C>T) c.720C>T (p.Val240=) c.*922C>T (n.*922C>T) c.960C>T (p.Val320=) c.*787C>T (n.*787C>T) | |
8 | g.43122827T>A | CA371123194 | POMK | c.1003T>A (p.Leu335Met) c.*799T>A (n.*799T>A) c.721T>A (p.Leu241Met) c.*923T>A (n.*923T>A) c.961T>A (p.Leu321Met) c.*788T>A (n.*788T>A) | |
8 | g.43122827T>C | CA4736390 | POMK | c.1003T>C (p.Leu335=) c.*799T>C (n.*799T>C) c.721T>C (p.Leu241=) c.*923T>C (n.*923T>C) c.961T>C (p.Leu321=) c.*788T>C (n.*788T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.43122827T>G | CA371123197 | POMK | c.1003T>G (p.Leu335Val) c.*799T>G (n.*799T>G) c.721T>G (p.Leu241Val) c.*923T>G (n.*923T>G) c.961T>G (p.Leu321Val) c.*788T>G (n.*788T>G) | |
8 | g.43122827T= | CA1779748266 | POMK | c.1003T= (p.Leu335=) c.*799T= (n.*799T=) c.721T= (p.Leu241=) c.*923T= (n.*923T=) c.961T= (p.Leu321=) c.*788T= (n.*788T=) | |
8 | g.43122827_43122828insCCTACCAGAAG | CA2573143106 | POMK | c.1003_1004insCCTACCAGAAG (p.Leu335SerfsTer12) c.*799_*800insCCTACCAGAAG (n.*799_*800insCCTACCAGAAG) c.721_722insCCTACCAGAAG (p.Leu241SerfsTer12) c.*923_*924insCCTACCAGAAG (n.*923_*924insCCTACCAGAAG) c.961_962insCCTACCAGAAG (p.Leu321SerfsTer12) c.*788_*789insCCTACCAGAAG (n.*788_*789insCCTACCAGAAG) | dbSNP |
8 | g.43122828T>A | CA371123203 | POMK | c.1004T>A (p.Leu335Ter) c.*800T>A (n.*800T>A) c.722T>A (p.Leu241Ter) c.*924T>A (n.*924T>A) c.962T>A (p.Leu321Ter) c.*789T>A (n.*789T>A) | |
8 | g.43122828T>C | CA371123200 | POMK | c.1004T>C (p.Leu335Ser) c.*800T>C (n.*800T>C) c.722T>C (p.Leu241Ser) c.*924T>C (n.*924T>C) c.962T>C (p.Leu321Ser) c.*789T>C (n.*789T>C) | |
8 | g.43122828T>G | CA371123201 | POMK | c.1004T>G (p.Leu335Trp) c.*800T>G (n.*800T>G) c.722T>G (p.Leu241Trp) c.*924T>G (n.*924T>G) c.962T>G (p.Leu321Trp) c.*789T>G (n.*789T>G) | |
8 | g.43122829G>A | CA460787599 | POMK | c.1005G>A (p.Leu335=) c.*801G>A (n.*801G>A) c.723G>A (p.Leu241=) c.*925G>A (n.*925G>A) c.963G>A (p.Leu321=) c.*790G>A (n.*790G>A) | |
8 | g.43122829G>C | CA371123205 | POMK | c.1005G>C (p.Leu335Phe) c.*801G>C (n.*801G>C) c.723G>C (p.Leu241Phe) c.*925G>C (n.*925G>C) c.963G>C (p.Leu321Phe) c.*790G>C (n.*790G>C) | |
8 | g.43122829G>T | CA371123207 | POMK | c.1005G>T (p.Leu335Phe) c.*801G>T (n.*801G>T) c.723G>T (p.Leu241Phe) c.*925G>T (n.*925G>T) c.963G>T (p.Leu321Phe) c.*790G>T (n.*790G>T) | |
8 | g.43122830G>A | CA4736391 | POMK | c.1006G>A (p.Asp336Asn) c.*802G>A (n.*802G>A) c.724G>A (p.Asp242Asn) c.*926G>A (n.*926G>A) c.964G>A (p.Asp322Asn) c.*791G>A (n.*791G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43122830G>C | CA371123211 | POMK | c.1006G>C (p.Asp336His) c.*802G>C (n.*802G>C) c.724G>C (p.Asp242His) c.*926G>C (n.*926G>C) c.964G>C (p.Asp322His) c.*791G>C (n.*791G>C) | |
8 | g.43122830G= | CA1779748274 | POMK | c.1006G= (p.Asp336=) c.*802G= (n.*802G=) c.724G= (p.Asp242=) c.*926G= (n.*926G=) c.964G= (p.Asp322=) c.*791G= (n.*791G=) | |
8 | g.43122830G>T | CA371123212 | POMK | c.1006G>T (p.Asp336Tyr) c.*802G>T (n.*802G>T) c.724G>T (p.Asp242Tyr) c.*926G>T (n.*926G>T) c.964G>T (p.Asp322Tyr) c.*791G>T (n.*791G>T) | |
8 | g.43122831A>C | CA371123216 | POMK | c.1007A>C (p.Asp336Ala) c.*803A>C (n.*803A>C) c.725A>C (p.Asp242Ala) c.*927A>C (n.*927A>C) c.965A>C (p.Asp322Ala) c.*792A>C (n.*792A>C) | |
8 | g.43122831A>G | CA371123219 | POMK | c.1007A>G (p.Asp336Gly) c.*803A>G (n.*803A>G) c.725A>G (p.Asp242Gly) c.*927A>G (n.*927A>G) c.965A>G (p.Asp322Gly) c.*792A>G (n.*792A>G) | |
8 | g.43122831A>T | CA371123217 | POMK | c.1007A>T (p.Asp336Val) c.*803A>T (n.*803A>T) c.725A>T (p.Asp242Val) c.*927A>T (n.*927A>T) c.965A>T (p.Asp322Val) c.*792A>T (n.*792A>T) | gnomAD v4 |
8 | g.43122832T>A | CA371123222 | POMK | c.1008T>A (p.Asp336Glu) c.*804T>A (n.*804T>A) c.726T>A (p.Asp242Glu) c.*928T>A (n.*928T>A) c.966T>A (p.Asp322Glu) c.*793T>A (n.*793T>A) | |
8 | g.43122832T>C | CA460787603 | POMK | c.1008T>C (p.Asp336=) c.*804T>C (n.*804T>C) c.726T>C (p.Asp242=) c.*928T>C (n.*928T>C) c.966T>C (p.Asp322=) c.*793T>C (n.*793T>C) | |
8 | g.43122832T>G | CA371123223 | POMK | c.1008T>G (p.Asp336Glu) c.*804T>G (n.*804T>G) c.726T>G (p.Asp242Glu) c.*928T>G (n.*928T>G) c.966T>G (p.Asp322Glu) c.*793T>G (n.*793T>G) | |
8 | g.43122833A>C | CA371123226 | POMK | c.1009A>C (p.Thr337Pro) c.*805A>C (n.*805A>C) c.727A>C (p.Thr243Pro) c.*929A>C (n.*929A>C) c.967A>C (p.Thr323Pro) c.*794A>C (n.*794A>C) | |
8 | g.43122833A>G | CA371123227 | POMK | c.1009A>G (p.Thr337Ala) c.*805A>G (n.*805A>G) c.727A>G (p.Thr243Ala) c.*929A>G (n.*929A>G) c.967A>G (p.Thr323Ala) c.*794A>G (n.*794A>G) | gnomAD v4 |
8 | g.43122833A>T | CA371123230 | POMK | c.1009A>T (p.Thr337Ser) c.*805A>T (n.*805A>T) c.727A>T (p.Thr243Ser) c.*929A>T (n.*929A>T) c.967A>T (p.Thr323Ser) c.*794A>T (n.*794A>T) | |
8 | g.43122834C>A | CA4736392 | POMK | c.1010C>A (p.Thr337Lys) c.*806C>A (n.*806C>A) c.728C>A (p.Thr243Lys) c.*930C>A (n.*930C>A) c.968C>A (p.Thr323Lys) c.*795C>A (n.*795C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.43122834C= | CA1779748277 | POMK | c.1010C= (p.Thr337=) c.*806C= (n.*806C=) c.728C= (p.Thr243=) c.*930C= (n.*930C=) c.968C= (p.Thr323=) c.*795C= (n.*795C=) | |
8 | g.43122834C>G | CA371123233 | POMK | c.1010C>G (p.Thr337Arg) c.*806C>G (n.*806C>G) c.728C>G (p.Thr243Arg) c.*930C>G (n.*930C>G) c.968C>G (p.Thr323Arg) c.*795C>G (n.*795C>G) | |
8 | g.43122834C>T | CA371123235 | POMK | c.1010C>T (p.Thr337Ile) c.*806C>T (n.*806C>T) c.728C>T (p.Thr243Ile) c.*930C>T (n.*930C>T) c.968C>T (p.Thr323Ile) c.*795C>T (n.*795C>T) | gnomAD v4 |
8 | g.43122835A= | CA1779748279 | POMK | c.1011A= (p.Thr337=) c.*807A= (n.*807A=) c.729A= (p.Thr243=) c.*931A= (n.*931A=) c.969A= (p.Thr323=) c.*796A= (n.*796A=) | |
8 | g.43122835A>C | CA460787605 | POMK | c.1011A>C (p.Thr337=) c.*807A>C (n.*807A>C) c.729A>C (p.Thr243=) c.*931A>C (n.*931A>C) c.969A>C (p.Thr323=) c.*796A>C (n.*796A>C) | dbSNP gnomAD v4 |
8 | g.43122835A>G | CA460787606 | POMK | c.1011A>G (p.Thr337=) c.*807A>G (n.*807A>G) c.729A>G (p.Thr243=) c.*931A>G (n.*931A>G) c.969A>G (p.Thr323=) c.*796A>G (n.*796A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.43122835A>T | CA460787607 | POMK | c.1011A>T (p.Thr337=) c.*807A>T (n.*807A>T) c.729A>T (p.Thr243=) c.*931A>T (n.*931A>T) c.969A>T (p.Thr323=) c.*796A>T (n.*796A>T) | |
8 | g.43122836C>A | CA371123238 | POMK | c.1012C>A (p.Leu338Ile) c.*808C>A (n.*808C>A) c.730C>A (p.Leu244Ile) c.*932C>A (n.*932C>A) c.970C>A (p.Leu324Ile) c.*797C>A (n.*797C>A) | |
8 | g.43122836C= | CA1779748283 | POMK | c.1012C= (p.Leu338=) c.*808C= (n.*808C=) c.730C= (p.Leu244=) c.*932C= (n.*932C=) c.970C= (p.Leu324=) c.*797C= (n.*797C=) | |
8 | g.43122836C>G | CA371123240 | POMK | c.1012C>G (p.Leu338Val) c.*808C>G (n.*808C>G) c.730C>G (p.Leu244Val) c.*932C>G (n.*932C>G) c.970C>G (p.Leu324Val) c.*797C>G (n.*797C>G) | |
8 | g.43122836C>T | CA371123241 | POMK | c.1012C>T (p.Leu338Phe) c.*808C>T (n.*808C>T) c.730C>T (p.Leu244Phe) c.*932C>T (n.*932C>T) c.970C>T (p.Leu324Phe) c.*797C>T (n.*797C>T) | gnomAD v4 |
8 | g.43122837T>A | CA371123246 | POMK | c.1013T>A (p.Leu338His) c.*809T>A (n.*809T>A) c.731T>A (p.Leu244His) c.*933T>A (n.*933T>A) c.971T>A (p.Leu324His) c.*798T>A (n.*798T>A) | |
8 | g.43122837T>C | CA371123250 | POMK | c.1013T>C (p.Leu338Pro) c.*809T>C (n.*809T>C) c.731T>C (p.Leu244Pro) c.*933T>C (n.*933T>C) c.971T>C (p.Leu324Pro) c.*798T>C (n.*798T>C) | |
8 | g.43122837T>G | CA4736394 | POMK | c.1013T>G (p.Leu338Arg) c.*809T>G (n.*809T>G) c.731T>G (p.Leu244Arg) c.*933T>G (n.*933T>G) c.971T>G (p.Leu324Arg) c.*798T>G (n.*798T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43122837T= | CA1779748289 | POMK | c.1013T= (p.Leu338=) c.*809T= (n.*809T=) c.731T= (p.Leu244=) c.*933T= (n.*933T=) c.971T= (p.Leu324=) c.*798T= (n.*798T=) | |
8 | g.43122838dup | CA4736393 | POMK | c.1014dup (p.Arg339Ter) c.*810dup (n.*810dup) c.732dup (p.Arg245Ter) c.*934dup (n.*934dup) c.972dup (p.Arg325Ter) c.*799dup (n.*799dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.43122838T>A | CA460787608 | POMK | c.1014T>A (p.Leu338=) c.*810T>A (n.*810T>A) c.732T>A (p.Leu244=) c.*934T>A (n.*934T>A) c.972T>A (p.Leu324=) c.*799T>A (n.*799T>A) | |
8 | g.43122838T>C | CA460787609 | POMK | c.1014T>C (p.Leu338=) c.*810T>C (n.*810T>C) c.732T>C (p.Leu244=) c.*934T>C (n.*934T>C) c.972T>C (p.Leu324=) c.*799T>C (n.*799T>C) | |
8 | g.43122838T>G | CA460787610 | POMK | c.1014T>G (p.Leu338=) c.*810T>G (n.*810T>G) c.732T>G (p.Leu244=) c.*934T>G (n.*934T>G) c.972T>G (p.Leu324=) c.*799T>G (n.*799T>G) | |
8 | g.43122839A>C | CA460787611 | POMK | c.1015A>C (p.Arg339=) c.*811A>C (n.*811A>C) c.733A>C (p.Arg245=) c.*935A>C (n.*935A>C) c.973A>C (p.Arg325=) c.*800A>C (n.*800A>C) | |
8 | g.43122839A>G | CA371123254 | POMK | c.1015A>G (p.Arg339Gly) c.*811A>G (n.*811A>G) c.733A>G (p.Arg245Gly) c.*935A>G (n.*935A>G) c.973A>G (p.Arg325Gly) c.*800A>G (n.*800A>G) | |
8 | g.43122839A>T | CA371123252 | POMK | c.1015A>T (p.Arg339Ter) c.*811A>T (n.*811A>T) c.733A>T (p.Arg245Ter) c.*935A>T (n.*935A>T) c.973A>T (p.Arg325Ter) c.*800A>T (n.*800A>T) | |
8 | g.43122840G>A | CA371123259 | POMK | c.1016G>A (p.Arg339Lys) c.*812G>A (n.*812G>A) c.734G>A (p.Arg245Lys) c.*936G>A (n.*936G>A) c.974G>A (p.Arg325Lys) c.*801G>A (n.*801G>A) | COSMIC COSMIC |
8 | g.43122840G>C | CA371123257 | POMK | c.1016G>C (p.Arg339Thr) c.*812G>C (n.*812G>C) c.734G>C (p.Arg245Thr) c.*936G>C (n.*936G>C) c.974G>C (p.Arg325Thr) c.*801G>C (n.*801G>C) | |
8 | g.43122840G>T | CA371123261 | POMK | c.1016G>T (p.Arg339Ile) c.*812G>T (n.*812G>T) c.734G>T (p.Arg245Ile) c.*936G>T (n.*936G>T) c.974G>T (p.Arg325Ile) c.*801G>T (n.*801G>T) | |
8 | g.43122841A>C | CA371123263 | POMK | c.1017A>C (p.Arg339Ser) c.*813A>C (n.*813A>C) c.735A>C (p.Arg245Ser) c.*937A>C (n.*937A>C) c.975A>C (p.Arg325Ser) c.*802A>C (n.*802A>C) | |
8 | g.43122841A>G | CA460787614 | POMK | c.1017A>G (p.Arg339=) c.*813A>G (n.*813A>G) c.735A>G (p.Arg245=) c.*937A>G (n.*937A>G) c.975A>G (p.Arg325=) c.*802A>G (n.*802A>G) | |
8 | g.43122841A>T | CA371123264 | POMK | c.1017A>T (p.Arg339Ser) c.*813A>T (n.*813A>T) c.735A>T (p.Arg245Ser) c.*937A>T (n.*937A>T) c.975A>T (p.Arg325Ser) c.*802A>T (n.*802A>T) | |
8 | g.43122842G>A | CA371123267 | POMK | c.1018G>A (p.Asp340Asn) c.*814G>A (n.*814G>A) c.736G>A (p.Asp246Asn) c.*938G>A (n.*938G>A) c.976G>A (p.Asp326Asn) c.*803G>A (n.*803G>A) | |
8 | g.43122842G>C | CA371123269 | POMK | c.1018G>C (p.Asp340His) c.*814G>C (n.*814G>C) c.736G>C (p.Asp246His) c.*938G>C (n.*938G>C) c.976G>C (p.Asp326His) c.*803G>C (n.*803G>C) | |
8 | g.43122842G>T | CA371123271 | POMK | c.1018G>T (p.Asp340Tyr) c.*814G>T (n.*814G>T) c.736G>T (p.Asp246Tyr) c.*938G>T (n.*938G>T) c.976G>T (p.Asp326Tyr) c.*803G>T (n.*803G>T) | |
8 | g.43122843A>C | CA371123273 | POMK | c.1019A>C (p.Asp340Ala) c.*815A>C (n.*815A>C) c.737A>C (p.Asp246Ala) c.*939A>C (n.*939A>C) c.977A>C (p.Asp326Ala) c.*804A>C (n.*804A>C) | |
8 | g.43122843A>G | CA371123275 | POMK | c.1019A>G (p.Asp340Gly) c.*815A>G (n.*815A>G) c.737A>G (p.Asp246Gly) c.*939A>G (n.*939A>G) c.977A>G (p.Asp326Gly) c.*804A>G (n.*804A>G) | |
8 | g.43122843A>T | CA371123276 | POMK | c.1019A>T (p.Asp340Val) c.*815A>T (n.*815A>T) c.737A>T (p.Asp246Val) c.*939A>T (n.*939A>T) c.977A>T (p.Asp326Val) c.*804A>T (n.*804A>T) | |
8 | g.43122844T>A | CA371123279 | POMK | c.1020T>A (p.Asp340Glu) c.*816T>A (n.*816T>A) c.738T>A (p.Asp246Glu) c.*940T>A (n.*940T>A) c.978T>A (p.Asp326Glu) c.*805T>A (n.*805T>A) | |
8 | g.43122844T>C | CA460787615 | POMK | c.1020T>C (p.Asp340=) c.*816T>C (n.*816T>C) c.738T>C (p.Asp246=) c.*940T>C (n.*940T>C) c.978T>C (p.Asp326=) c.*805T>C (n.*805T>C) | |
8 | g.43122844T>G | CA371123281 | POMK | c.1020T>G (p.Asp340Glu) c.*816T>G (n.*816T>G) c.738T>G (p.Asp246Glu) c.*940T>G (n.*940T>G) c.978T>G (p.Asp326Glu) c.*805T>G (n.*805T>G) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.43122844T= | CA1779748293 | POMK | c.1020T= (p.Asp340=) c.*816T= (n.*816T=) c.738T= (p.Asp246=) c.*940T= (n.*940T=) c.978T= (p.Asp326=) c.*805T= (n.*805T=) | |
8 | g.43122845G>A | CA371123283 | POMK | c.1021G>A (p.Ala341Thr) c.*817G>A (n.*817G>A) c.739G>A (p.Ala247Thr) c.*941G>A (n.*941G>A) c.979G>A (p.Ala327Thr) c.*806G>A (n.*806G>A) | |
8 | g.43122845G>C | CA371123285 | POMK | c.1021G>C (p.Ala341Pro) c.*817G>C (n.*817G>C) c.739G>C (p.Ala247Pro) c.*941G>C (n.*941G>C) c.979G>C (p.Ala327Pro) c.*806G>C (n.*806G>C) | |
8 | g.43122845G>T | CA371123287 | POMK | c.1021G>T (p.Ala341Ser) c.*817G>T (n.*817G>T) c.739G>T (p.Ala247Ser) c.*941G>T (n.*941G>T) c.979G>T (p.Ala327Ser) c.*806G>T (n.*806G>T) | gnomAD v4 |
8 | g.43122846C>A | CA371123290 | POMK | c.1022C>A (p.Ala341Asp) c.*818C>A (n.*818C>A) c.740C>A (p.Ala247Asp) c.*942C>A (n.*942C>A) c.980C>A (p.Ala327Asp) c.*807C>A (n.*807C>A) | |
8 | g.43122846C>G | CA371123293 | POMK | c.1022C>G (p.Ala341Gly) c.*818C>G (n.*818C>G) c.740C>G (p.Ala247Gly) c.*942C>G (n.*942C>G) c.980C>G (p.Ala327Gly) c.*807C>G (n.*807C>G) | |
8 | g.43122846C>T | CA371123292 | POMK | c.1022C>T (p.Ala341Val) c.*818C>T (n.*818C>T) c.740C>T (p.Ala247Val) c.*942C>T (n.*942C>T) c.980C>T (p.Ala327Val) c.*807C>T (n.*807C>T) | |
8 | g.43122847C>A | CA460787617 | POMK | c.1023C>A (p.Ala341=) c.*819C>A (n.*819C>A) c.741C>A (p.Ala247=) c.*943C>A (n.*943C>A) c.981C>A (p.Ala327=) c.*808C>A (n.*808C>A) | gnomAD v4 |
8 | g.43122847C= | CA1779736118 | POMK | c.1023C= (p.Ala341=) c.*819C= (n.*819C=) c.741C= (p.Ala247=) c.*943C= (n.*943C=) c.981C= (p.Ala327=) c.*808C= (n.*808C=) | |
8 | g.43122847C>G | CA460787618 | POMK | c.1023C>G (p.Ala341=) c.*819C>G (n.*819C>G) c.741C>G (p.Ala247=) c.*943C>G (n.*943C>G) c.981C>G (p.Ala327=) c.*808C>G (n.*808C>G) | COSMIC COSMIC |
8 | g.43122847C>T | CA4736395 | POMK | c.1023C>T (p.Ala341=) c.*819C>T (n.*819C>T) c.741C>T (p.Ala247=) c.*943C>T (n.*943C>T) c.981C>T (p.Ala327=) c.*808C>T (n.*808C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43122848A= | CA1779736136 | POMK | c.1024A= (p.Met342=) c.*820A= (n.*820A=) c.742A= (p.Met248=) c.*944A= (n.*944A=) c.982A= (p.Met328=) c.*809A= (n.*809A=) | |
8 | g.43122848A>C | CA371123298 | POMK | c.1024A>C (p.Met342Leu) c.*820A>C (n.*820A>C) c.742A>C (p.Met248Leu) c.*944A>C (n.*944A>C) c.982A>C (p.Met328Leu) c.*809A>C (n.*809A>C) | dbSNP gnomAD v4 |
8 | g.43122848A>G | CA4736396 | POMK | c.1024A>G (p.Met342Val) c.*820A>G (n.*820A>G) c.742A>G (p.Met248Val) c.*944A>G (n.*944A>G) c.982A>G (p.Met328Val) c.*809A>G (n.*809A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43122848A>T | CA371123301 | POMK | c.1024A>T (p.Met342Leu) c.*820A>T (n.*820A>T) c.742A>T (p.Met248Leu) c.*944A>T (n.*944A>T) c.982A>T (p.Met328Leu) c.*809A>T (n.*809A>T) | |
8 | g.43122849T>A | CA371123304 | POMK | c.1025T>A (p.Met342Lys) c.*821T>A (n.*821T>A) c.743T>A (p.Met248Lys) c.*945T>A (n.*945T>A) c.983T>A (p.Met328Lys) c.*810T>A (n.*810T>A) | dbSNP gnomAD v4 |
8 | g.43122849T>C | CA4736397 | POMK | c.1025T>C (p.Met342Thr) c.*821T>C (n.*821T>C) c.743T>C (p.Met248Thr) c.*945T>C (n.*945T>C) c.983T>C (p.Met328Thr) c.*810T>C (n.*810T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.43122849T>G | CA371123307 | POMK | c.1025T>G (p.Met342Arg) c.*821T>G (n.*821T>G) c.743T>G (p.Met248Arg) c.*945T>G (n.*945T>G) c.983T>G (p.Met328Arg) c.*810T>G (n.*810T>G) | |
8 | g.43122849T= | CA1779736143 | POMK | c.1025T= (p.Met342=) c.*821T= (n.*821T=) c.743T= (p.Met248=) c.*945T= (n.*945T=) c.983T= (p.Met328=) c.*810T= (n.*810T=) | |
8 | g.43122850G>A | CA371123309 | POMK | c.1026G>A (p.Met342Ile) c.*822G>A (n.*822G>A) c.744G>A (p.Met248Ile) c.*946G>A (n.*946G>A) c.984G>A (p.Met328Ile) c.*811G>A (n.*811G>A) | COSMIC |
8 | g.43122850G>C | CA371123311 | POMK | c.1026G>C (p.Met342Ile) c.*822G>C (n.*822G>C) c.744G>C (p.Met248Ile) c.*946G>C (n.*946G>C) c.984G>C (p.Met328Ile) c.*811G>C (n.*811G>C) | |
8 | g.43122850G>T | CA371123313 | POMK | c.1026G>T (p.Met342Ile) c.*822G>T (n.*822G>T) c.744G>T (p.Met248Ile) c.*946G>T (n.*946G>T) c.984G>T (p.Met328Ile) c.*811G>T (n.*811G>T) | |
8 | g.43122851A>C | CA371123317 | POMK | c.1027A>C (p.Met343Leu) c.*823A>C (n.*823A>C) c.745A>C (p.Met249Leu) c.*947A>C (n.*947A>C) c.985A>C (p.Met329Leu) c.*812A>C (n.*812A>C) | gnomAD v4 |
8 | g.43122851A>G | CA371123319 | POMK | c.1027A>G (p.Met343Val) c.*823A>G (n.*823A>G) c.745A>G (p.Met249Val) c.*947A>G (n.*947A>G) c.985A>G (p.Met329Val) c.*812A>G (n.*812A>G) | |
8 | g.43122851A>T | CA371123315 | POMK | c.1027A>T (p.Met343Leu) c.*823A>T (n.*823A>T) c.745A>T (p.Met249Leu) c.*947A>T (n.*947A>T) c.985A>T (p.Met329Leu) c.*812A>T (n.*812A>T) | |
8 | g.43122852T>A | CA371123322 | POMK | c.1028T>A (p.Met343Lys) c.*824T>A (n.*824T>A) c.746T>A (p.Met249Lys) c.*948T>A (n.*948T>A) c.986T>A (p.Met329Lys) c.*813T>A (n.*813T>A) | |
8 | g.43122852T>C | CA371123324 | POMK | c.1028T>C (p.Met343Thr) c.*824T>C (n.*824T>C) c.746T>C (p.Met249Thr) c.*948T>C (n.*948T>C) c.986T>C (p.Met329Thr) c.*813T>C (n.*813T>C) | gnomAD v4 |
8 | g.43122852T>G | CA371123326 | POMK | c.1028T>G (p.Met343Arg) c.*824T>G (n.*824T>G) c.746T>G (p.Met249Arg) c.*948T>G (n.*948T>G) c.986T>G (p.Met329Arg) c.*813T>G (n.*813T>G) | |
8 | g.43122853G>A | CA176080925 | POMK | c.1029G>A (p.Met343Ile) c.*825G>A (n.*825G>A) c.747G>A (p.Met249Ile) c.*949G>A (n.*949G>A) c.987G>A (p.Met329Ile) c.*814G>A (n.*814G>A) | dbSNP |
8 | g.43122853G>C | CA371123329 | POMK | c.1029G>C (p.Met343Ile) c.*825G>C (n.*825G>C) c.747G>C (p.Met249Ile) c.*949G>C (n.*949G>C) c.987G>C (p.Met329Ile) c.*814G>C (n.*814G>C) | |
8 | g.43122853G= | CA1779736149 | POMK | c.1029G= (p.Met343=) c.*825G= (n.*825G=) c.747G= (p.Met249=) c.*949G= (n.*949G=) c.987G= (p.Met329=) c.*814G= (n.*814G=) | |
8 | g.43122853G>T | CA371123331 | POMK | c.1029G>T (p.Met343Ile) c.*825G>T (n.*825G>T) c.747G>T (p.Met249Ile) c.*949G>T (n.*949G>T) c.987G>T (p.Met329Ile) c.*814G>T (n.*814G>T) | |
8 | g.43122854T>A | CA371123333 | POMK | c.1030T>A (p.Ser344Thr) c.*826T>A (n.*826T>A) c.748T>A (p.Ser250Thr) c.*950T>A (n.*950T>A) c.988T>A (p.Ser330Thr) c.*815T>A (n.*815T>A) | |
8 | g.43122854T>C | CA371123336 | POMK | c.1030T>C (p.Ser344Pro) c.*826T>C (n.*826T>C) c.748T>C (p.Ser250Pro) c.*950T>C (n.*950T>C) c.988T>C (p.Ser330Pro) c.*815T>C (n.*815T>C) | |
8 | g.43122854T>G | CA371123338 | POMK | c.1030T>G (p.Ser344Ala) c.*826T>G (n.*826T>G) c.748T>G (p.Ser250Ala) c.*950T>G (n.*950T>G) c.988T>G (p.Ser330Ala) c.*815T>G (n.*815T>G) | |
8 | g.43122855C>A | CA371123341 | POMK | c.1031C>A (p.Ser344Tyr) c.*827C>A (n.*827C>A) c.749C>A (p.Ser250Tyr) c.*951C>A (n.*951C>A) c.989C>A (p.Ser330Tyr) c.*816C>A (n.*816C>A) | gnomAD v4 |
8 | g.43122855C>G | CA371123343 | POMK | c.1031C>G (p.Ser344Cys) c.*827C>G (n.*827C>G) c.749C>G (p.Ser250Cys) c.*951C>G (n.*951C>G) c.989C>G (p.Ser330Cys) c.*816C>G (n.*816C>G) | |
8 | g.43122855C>T | CA371123344 | POMK | c.1031C>T (p.Ser344Phe) c.*827C>T (n.*827C>T) c.749C>T (p.Ser250Phe) c.*951C>T (n.*951C>T) c.989C>T (p.Ser330Phe) c.*816C>T (n.*816C>T) | |
8 | g.43122856T>A | CA460787622 | POMK | c.1032T>A (p.Ser344=) c.*828T>A (n.*828T>A) c.750T>A (p.Ser250=) c.*952T>A (n.*952T>A) c.990T>A (p.Ser330=) c.*817T>A (n.*817T>A) | COSMIC COSMIC |
8 | g.43122856T>C | CA460787623 | POMK | c.1032T>C (p.Ser344=) c.*828T>C (n.*828T>C) c.750T>C (p.Ser250=) c.*952T>C (n.*952T>C) c.990T>C (p.Ser330=) c.*817T>C (n.*817T>C) | |
8 | g.43122856T>G | CA460787624 | POMK | c.1032T>G (p.Ser344=) c.*828T>G (n.*828T>G) c.750T>G (p.Ser250=) c.*952T>G (n.*952T>G) c.990T>G (p.Ser330=) c.*817T>G (n.*817T>G) | |
8 | g.43122857C>A | CA371123350 | POMK | c.1033C>A (p.Gln345Lys) c.*829C>A (n.*829C>A) c.751C>A (p.Gln251Lys) c.*953C>A (n.*953C>A) c.991C>A (p.Gln331Lys) c.*818C>A (n.*818C>A) | COSMIC COSMIC |
8 | g.43122857C>G | CA371123352 | POMK | c.1033C>G (p.Gln345Glu) c.*829C>G (n.*829C>G) c.751C>G (p.Gln251Glu) c.*953C>G (n.*953C>G) c.991C>G (p.Gln331Glu) c.*818C>G (n.*818C>G) | |
8 | g.43122857C>T | CA371123347 | POMK | c.1033C>T (p.Gln345Ter) c.*829C>T (n.*829C>T) c.751C>T (p.Gln251Ter) c.*953C>T (n.*953C>T) c.991C>T (p.Gln331Ter) c.*818C>T (n.*818C>T) | |
8 | g.43122858A>C | CA371123354 | POMK | c.1034A>C (p.Gln345Pro) c.*830A>C (n.*830A>C) c.752A>C (p.Gln251Pro) c.*954A>C (n.*954A>C) c.992A>C (p.Gln331Pro) c.*819A>C (n.*819A>C) | |
8 | g.43122858A>G | CA371123356 | POMK | c.1034A>G (p.Gln345Arg) c.*830A>G (n.*830A>G) c.752A>G (p.Gln251Arg) c.*954A>G (n.*954A>G) c.992A>G (p.Gln331Arg) c.*819A>G (n.*819A>G) | |
8 | g.43122858A>T | CA371123358 | POMK | c.1034A>T (p.Gln345Leu) c.*830A>T (n.*830A>T) c.752A>T (p.Gln251Leu) c.*954A>T (n.*954A>T) c.992A>T (p.Gln331Leu) c.*819A>T (n.*819A>T) | |
8 | g.43122859G>A | CA460787625 | POMK | c.1035G>A (p.Gln345=) c.*831G>A (n.*831G>A) c.753G>A (p.Gln251=) c.*955G>A (n.*955G>A) c.993G>A (p.Gln331=) c.*820G>A (n.*820G>A) | |
8 | g.43122859G>C | CA371123361 | POMK | c.1035G>C (p.Gln345His) c.*831G>C (n.*831G>C) c.753G>C (p.Gln251His) c.*955G>C (n.*955G>C) c.993G>C (p.Gln331His) c.*820G>C (n.*820G>C) | |
8 | g.43122859G>T | CA371123362 | POMK | c.1035G>T (p.Gln345His) c.*831G>T (n.*831G>T) c.753G>T (p.Gln251His) c.*955G>T (n.*955G>T) c.993G>T (p.Gln331His) c.*820G>T (n.*820G>T) | |
8 | g.43122860G>A | CA371123368 | POMK | c.1036G>A (p.Ala346Thr) c.*832G>A (n.*832G>A) c.754G>A (p.Ala252Thr) c.*956G>A (n.*956G>A) c.994G>A (p.Ala332Thr) c.*821G>A (n.*821G>A) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.43122860G>C | CA371123365 | POMK | c.1036G>C (p.Ala346Pro) c.*832G>C (n.*832G>C) c.754G>C (p.Ala252Pro) c.*956G>C (n.*956G>C) c.994G>C (p.Ala332Pro) c.*821G>C (n.*821G>C) | |
8 | g.43122860G= | CA1779736154 | POMK | c.1036G= (p.Ala346=) c.*832G= (n.*832G=) c.754G= (p.Ala252=) c.*956G= (n.*956G=) c.994G= (p.Ala332=) c.*821G= (n.*821G=) | |
8 | g.43122860G>T | CA371123367 | POMK | c.1036G>T (p.Ala346Ser) c.*832G>T (n.*832G>T) c.754G>T (p.Ala252Ser) c.*956G>T (n.*956G>T) c.994G>T (p.Ala332Ser) c.*821G>T (n.*821G>T) | |
8 | g.43122861C>A | CA371123372 | POMK | c.1037C>A (p.Ala346Glu) c.*833C>A (n.*833C>A) c.755C>A (p.Ala252Glu) c.*957C>A (n.*957C>A) c.995C>A (p.Ala332Glu) c.*822C>A (n.*822C>A) | dbSNP gnomAD v4 |
8 | g.43122861C= | CA1779736159 | POMK | c.1037C= (p.Ala346=) c.*833C= (n.*833C=) c.755C= (p.Ala252=) c.*957C= (n.*957C=) c.995C= (p.Ala332=) c.*822C= (n.*822C=) | |
8 | g.43122861C>G | CA371123373 | POMK | c.1037C>G (p.Ala346Gly) c.*833C>G (n.*833C>G) c.755C>G (p.Ala252Gly) c.*957C>G (n.*957C>G) c.995C>G (p.Ala332Gly) c.*822C>G (n.*822C>G) | |
8 | g.43122861C>T | CA371123375 | POMK | c.1037C>T (p.Ala346Val) c.*833C>T (n.*833C>T) c.755C>T (p.Ala252Val) c.*957C>T (n.*957C>T) c.995C>T (p.Ala332Val) c.*822C>T (n.*822C>T) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.43122862A>C | CA460787627 | POMK | c.1038A>C (p.Ala346=) c.*834A>C (n.*834A>C) c.756A>C (p.Ala252=) c.*958A>C (n.*958A>C) c.996A>C (p.Ala332=) c.*823A>C (n.*823A>C) | |
8 | g.43122862A>G | CA460787628 | POMK | c.1038A>G (p.Ala346=) c.*834A>G (n.*834A>G) c.756A>G (p.Ala252=) c.*958A>G (n.*958A>G) c.996A>G (p.Ala332=) c.*823A>G (n.*823A>G) | |
8 | g.43122862A>T | CA460787629 | POMK | c.1038A>T (p.Ala346=) c.*834A>T (n.*834A>T) c.756A>T (p.Ala252=) c.*958A>T (n.*958A>T) c.996A>T (p.Ala332=) c.*823A>T (n.*823A>T) | |
8 | g.43122863A= | CA1779736163 | POMK | c.1039A= (p.Arg347=) c.*835A= (n.*835A=) c.757A= (p.Arg253=) c.*959A= (n.*959A=) c.997A= (p.Arg333=) c.*824A= (n.*824A=) | |
8 | g.43122863A>C | CA460787631 | POMK | c.1039A>C (p.Arg347=) c.*835A>C (n.*835A>C) c.757A>C (p.Arg253=) c.*959A>C (n.*959A>C) c.997A>C (p.Arg333=) c.*824A>C (n.*824A>C) | |
8 | g.43122863A>G | CA371123377 | POMK | c.1039A>G (p.Arg347Gly) c.*835A>G (n.*835A>G) c.757A>G (p.Arg253Gly) c.*959A>G (n.*959A>G) c.997A>G (p.Arg333Gly) c.*824A>G (n.*824A>G) | dbSNP |
8 | g.43122863A>T | CA371123378 | POMK | c.1039A>T (p.Arg347Ter) c.*835A>T (n.*835A>T) c.757A>T (p.Arg253Ter) c.*959A>T (n.*959A>T) c.997A>T (p.Arg333Ter) c.*824A>T (n.*824A>T) | |
8 | g.43122864G>A | CA371123386 | POMK | c.1040G>A (p.Arg347Lys) c.*836G>A (n.*836G>A) c.758G>A (p.Arg253Lys) c.*960G>A (n.*960G>A) c.998G>A (p.Arg333Lys) c.*825G>A (n.*825G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43122864G>C | CA371123384 | POMK | c.1040G>C (p.Arg347Thr) c.*836G>C (n.*836G>C) c.758G>C (p.Arg253Thr) c.*960G>C (n.*960G>C) c.998G>C (p.Arg333Thr) c.*825G>C (n.*825G>C) | |
8 | g.43122864G= | CA1779736165 | POMK | c.1040G= (p.Arg347=) c.*836G= (n.*836G=) c.758G= (p.Arg253=) c.*960G= (n.*960G=) c.998G= (p.Arg333=) c.*825G= (n.*825G=) | |
8 | g.43122864G>T | CA371123382 | POMK | c.1040G>T (p.Arg347Ile) c.*836G>T (n.*836G>T) c.758G>T (p.Arg253Ile) c.*960G>T (n.*960G>T) c.998G>T (p.Arg333Ile) c.*825G>T (n.*825G>T) | |
8 | g.43122865A>C | CA371123389 | POMK | c.1041A>C (p.Arg347Ser) c.*837A>C (n.*837A>C) c.759A>C (p.Arg253Ser) c.*961A>C (n.*961A>C) c.999A>C (p.Arg333Ser) c.*826A>C (n.*826A>C) | |
8 | g.43122865A>G | CA460787632 | POMK | c.1041A>G (p.Arg347=) c.*837A>G (n.*837A>G) c.759A>G (p.Arg253=) c.*961A>G (n.*961A>G) c.999A>G (p.Arg333=) c.*826A>G (n.*826A>G) | gnomAD v4 |
8 | g.43122865A>T | CA371123391 | POMK | c.1041A>T (p.Arg347Ser) c.*837A>T (n.*837A>T) c.759A>T (p.Arg253Ser) c.*961A>T (n.*961A>T) c.999A>T (p.Arg333Ser) c.*826A>T (n.*826A>T) | |
8 | g.43122866G>A | CA371123394 | POMK | c.1042G>A (p.Glu348Lys) c.*838G>A (n.*838G>A) c.760G>A (p.Glu254Lys) c.*962G>A (n.*962G>A) c.1000G>A (p.Glu334Lys) c.*827G>A (n.*827G>A) | |
8 | g.43122866G>C | CA371123396 | POMK | c.1042G>C (p.Glu348Gln) c.*838G>C (n.*838G>C) c.760G>C (p.Glu254Gln) c.*962G>C (n.*962G>C) c.1000G>C (p.Glu334Gln) c.*827G>C (n.*827G>C) | |
8 | g.43122866G>T | CA371123398 | POMK | c.1042G>T (p.Glu348Ter) c.*838G>T (n.*838G>T) c.760G>T (p.Glu254Ter) c.*962G>T (n.*962G>T) c.1000G>T (p.Glu334Ter) c.*827G>T (n.*827G>T) | |
8 | g.43122867A= | CA1779736167 | POMK | c.1043A= (p.Glu348=) c.*839A= (n.*839A=) c.761A= (p.Glu254=) c.*963A= (n.*963A=) c.1001A= (p.Glu334=) c.*828A= (n.*828A=) | |
8 | g.43122867A>C | CA371123400 | POMK | c.1043A>C (p.Glu348Ala) c.*839A>C (n.*839A>C) c.761A>C (p.Glu254Ala) c.*963A>C (n.*963A>C) c.1001A>C (p.Glu334Ala) c.*828A>C (n.*828A>C) | dbSNP gnomAD v4 |
8 | g.43122867A>G | CA371123402 | POMK | c.1043A>G (p.Glu348Gly) c.*839A>G (n.*839A>G) c.761A>G (p.Glu254Gly) c.*963A>G (n.*963A>G) c.1001A>G (p.Glu334Gly) c.*828A>G (n.*828A>G) | COSMIC COSMIC |
8 | g.43122867A>T | CA371123404 | POMK | c.1043A>T (p.Glu348Val) c.*839A>T (n.*839A>T) c.761A>T (p.Glu254Val) c.*963A>T (n.*963A>T) c.1001A>T (p.Glu334Val) c.*828A>T (n.*828A>T) | |
8 | g.43122868G>A | CA460787637 | POMK | c.1044G>A (p.Glu348=) c.*840G>A (n.*840G>A) c.762G>A (p.Glu254=) c.*964G>A (n.*964G>A) c.1002G>A (p.Glu334=) c.*829G>A (n.*829G>A) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.43122868G>C | CA371123406 | POMK | c.1044G>C (p.Glu348Asp) c.*840G>C (n.*840G>C) c.762G>C (p.Glu254Asp) c.*964G>C (n.*964G>C) c.1002G>C (p.Glu334Asp) c.*829G>C (n.*829G>C) | |
8 | g.43122868G= | CA1779736172 | POMK | c.1044G= (p.Glu348=) c.*840G= (n.*840G=) c.762G= (p.Glu254=) c.*964G= (n.*964G=) c.1002G= (p.Glu334=) c.*829G= (n.*829G=) | |
8 | g.43122868G>T | CA371123408 | POMK | c.1044G>T (p.Glu348Asp) c.*840G>T (n.*840G>T) c.762G>T (p.Glu254Asp) c.*964G>T (n.*964G>T) c.1002G>T (p.Glu334Asp) c.*829G>T (n.*829G>T) | ClinVar dbSNP |
8 | g.43122869A>C | CA371123410 | POMK | c.1045A>C (p.Met349Leu) c.*841A>C (n.*841A>C) c.763A>C (p.Met255Leu) c.*965A>C (n.*965A>C) c.1003A>C (p.Met335Leu) c.*830A>C (n.*830A>C) | |
8 | g.43122869A>G | CA371123411 | POMK | c.1045A>G (p.Met349Val) c.*841A>G (n.*841A>G) c.763A>G (p.Met255Val) c.*965A>G (n.*965A>G) c.1003A>G (p.Met335Val) c.*830A>G (n.*830A>G) | |
8 | g.43122869A>T | CA371123414 | POMK | c.1045A>T (p.Met349Leu) c.*841A>T (n.*841A>T) c.763A>T (p.Met255Leu) c.*965A>T (n.*965A>T) c.1003A>T (p.Met335Leu) c.*830A>T (n.*830A>T) | |
8 | g.43122870T>A | CA371123420 | POMK | c.1046T>A (p.Met349Lys) c.*842T>A (n.*842T>A) c.764T>A (p.Met255Lys) c.*966T>A (n.*966T>A) c.1004T>A (p.Met335Lys) c.*831T>A (n.*831T>A) | |
8 | g.43122870T>C | CA371123418 | POMK | c.1046T>C (p.Met349Thr) c.*842T>C (n.*842T>C) c.764T>C (p.Met255Thr) c.*966T>C (n.*966T>C) c.1004T>C (p.Met335Thr) c.*831T>C (n.*831T>C) | |
8 | g.43122870T>G | CA371123416 | POMK | c.1046T>G (p.Met349Arg) c.*842T>G (n.*842T>G) c.764T>G (p.Met255Arg) c.*966T>G (n.*966T>G) c.1004T>G (p.Met335Arg) c.*831T>G (n.*831T>G) | gnomAD v4 |
8 | g.43122871G>A | CA4736398 | POMK | c.1047G>A (p.Met349Ile) c.*843G>A (n.*843G>A) c.765G>A (p.Met255Ile) c.*967G>A (n.*967G>A) c.1005G>A (p.Met335Ile) c.*832G>A (n.*832G>A) | dbSNP ExAC |
8 | g.43122871G>C | CA371123423 | POMK | c.1047G>C (p.Met349Ile) c.*843G>C (n.*843G>C) c.765G>C (p.Met255Ile) c.*967G>C (n.*967G>C) c.1005G>C (p.Met335Ile) c.*832G>C (n.*832G>C) | |
8 | g.43122871G= | CA1779736174 | POMK | c.1047G= (p.Met349=) c.*843G= (n.*843G=) c.765G= (p.Met255=) c.*967G= (n.*967G=) c.1005G= (p.Met335=) c.*832G= (n.*832G=) | |
8 | g.43122871G>T | CA371123425 | POMK | c.1047G>T (p.Met349Ile) c.*843G>T (n.*843G>T) c.765G>T (p.Met255Ile) c.*967G>T (n.*967G>T) c.1005G>T (p.Met335Ile) c.*832G>T (n.*832G>T) | |
8 | g.43122872C>A | CA371123428 | POMK | c.1048C>A (p.Leu350Met) c.*844C>A (n.*844C>A) c.766C>A (p.Leu256Met) c.*968C>A (n.*968C>A) c.1006C>A (p.Leu336Met) c.*833C>A (n.*833C>A) | gnomAD v4 |
8 | g.43122872C>G | CA371123429 | POMK | c.1048C>G (p.Leu350Val) c.*844C>G (n.*844C>G) c.766C>G (p.Leu256Val) c.*968C>G (n.*968C>G) c.1006C>G (p.Leu336Val) c.*833C>G (n.*833C>G) | |
8 | g.43122872C>T | CA460787638 | POMK | c.1048C>T (p.Leu350=) c.*844C>T (n.*844C>T) c.766C>T (p.Leu256=) c.*968C>T (n.*968C>T) c.1006C>T (p.Leu336=) c.*833C>T (n.*833C>T) | |
8 | g.43122873T>A | CA371123431 | POMK | c.1049T>A (p.Leu350Gln) c.*845T>A (n.*845T>A) c.767T>A (p.Leu256Gln) c.*969T>A (n.*969T>A) c.1007T>A (p.Leu336Gln) c.*834T>A (n.*834T>A) | |
8 | g.43122873T>C | CA4736399 | POMK | c.1049T>C (p.Leu350Pro) c.*845T>C (n.*845T>C) c.767T>C (p.Leu256Pro) c.*969T>C (n.*969T>C) c.1007T>C (p.Leu336Pro) c.*834T>C (n.*834T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43122873T>G | CA371123435 | POMK | c.1049T>G (p.Leu350Arg) c.*845T>G (n.*845T>G) c.767T>G (p.Leu256Arg) c.*969T>G (n.*969T>G) c.1007T>G (p.Leu336Arg) c.*834T>G (n.*834T>G) | |
8 | g.43122873T= | CA1779736178 | POMK | c.1049T= (p.Leu350=) c.*845T= (n.*845T=) c.767T= (p.Leu256=) c.*969T= (n.*969T=) c.1007T= (p.Leu336=) c.*834T= (n.*834T=) | |
8 | g.43122874G>A | CA460787639 | POMK | c.1050G>A (p.Leu350=) c.*846G>A (n.*846G>A) c.768G>A (p.Leu256=) c.*970G>A (n.*970G>A) c.1008G>A (p.Leu336=) c.*835G>A (n.*835G>A) | gnomAD v4 |
8 | g.43122874G>C | CA460787640 | POMK | c.1050G>C (p.Leu350=) c.*846G>C (n.*846G>C) c.768G>C (p.Leu256=) c.*970G>C (n.*970G>C) c.1008G>C (p.Leu336=) c.*835G>C (n.*835G>C) | |
8 | g.43122874G= | CA1779736183 | POMK | c.1050G= (p.Leu350=) c.*846G= (n.*846G=) c.768G= (p.Leu256=) c.*970G= (n.*970G=) c.1008G= (p.Leu336=) c.*835G= (n.*835G=) | |
8 | g.43122874G>T | CA4736400 | POMK | c.1050G>T (p.Leu350=) c.*846G>T (n.*846G>T) c.768G>T (p.Leu256=) c.*970G>T (n.*970G>T) c.1008G>T (p.Leu336=) c.*835G>T (n.*835G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.43122875T>A | CA371123438 | POMK | c.1051T>A (p.Ter351Arg) c.*847T>A (n.*847T>A) c.769T>A (p.Ter257Arg) c.*971T>A (n.*971T>A) c.1009T>A (p.Ter337Arg) c.*836T>A (n.*836T>A) | |
8 | g.43122875T>C | CA371123440 | POMK | c.1051T>C (p.Ter351Arg) c.*847T>C (n.*847T>C) c.769T>C (p.Ter257Arg) c.*971T>C (n.*971T>C) c.1009T>C (p.Ter337Arg) c.*836T>C (n.*836T>C) | |
8 | g.43122875T>G | CA371123442 | POMK | c.1051T>G (p.Ter351Gly) c.*847T>G (n.*847T>G) c.769T>G (p.Ter257Gly) c.*971T>G (n.*971T>G) c.1009T>G (p.Ter337Gly) c.*836T>G (n.*836T>G) | |
8 | g.43122876G>A | CA4736401 | POMK | c.1052G>A (p.Ter351=) c.*848G>A (n.*848G>A) c.770G>A (p.Ter257=) c.*972G>A (n.*972G>A) c.1010G>A (p.Ter337=) c.*837G>A (n.*837G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.43122876G>C | CA371123448 | POMK | c.1052G>C (p.Ter351Ser) c.*848G>C (n.*848G>C) c.770G>C (p.Ter257Ser) c.*972G>C (n.*972G>C) c.1010G>C (p.Ter337Ser) c.*837G>C (n.*837G>C) | |
8 | g.43122876G= | CA1779736188 | POMK | c.1052G= (p.Ter351=) c.*848G= (n.*848G=) c.770G= (p.Ter257=) c.*972G= (n.*972G=) c.1010G= (p.Ter337=) c.*837G= (n.*837G=) | |
8 | g.43122876G>T | CA371123445 | POMK | c.1052G>T (p.Ter351Leu) c.*848G>T (n.*848G>T) c.770G>T (p.Ter257Leu) c.*972G>T (n.*972G>T) c.1010G>T (p.Ter337Leu) c.*837G>T (n.*837G>T) | |
8 | g.43122877A>C | CA371123449 | POMK | c.1053A>C (p.Ter351Cys) c.*849A>C (n.*849A>C) c.771A>C (p.Ter257Cys) c.*973A>C (n.*973A>C) c.1011A>C (p.Ter337Cys) c.*838A>C (n.*838A>C) | |
8 | g.43122877A>G | CA371123451 | POMK | c.1053A>G (p.Ter351Trp) c.*849A>G (n.*849A>G) c.771A>G (p.Ter257Trp) c.*973A>G (n.*973A>G) c.1011A>G (p.Ter337Trp) c.*838A>G (n.*838A>G) | |
8 | g.43122877A>T | CA371123453 | POMK | c.1053A>T (p.Ter351Cys) c.*849A>T (n.*849A>T) c.771A>T (p.Ter257Cys) c.*973A>T (n.*973A>T) c.1011A>T (p.Ter337Cys) c.*838A>T (n.*838A>T) | |
8 | g.43122880A= | CA1779736192 | POMK | c.*3A= (n.*3A=) c.*852A= (n.*852A=) c.774A= (n.774A=) c.*976A= (n.*976A=) c.*841A= (n.*841A=) | |
8 | g.43122880A>C | CA4736402 | POMK | c.*3A>C (n.*3A>C) c.*852A>C (n.*852A>C) c.774A>C (n.774A>C) c.*976A>C (n.*976A>C) c.*841A>C (n.*841A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.43122880A>G | CA2687148719 | POMK | c.*3A>G (n.*3A>G) c.*852A>G (n.*852A>G) c.774A>G (n.774A>G) c.*976A>G (n.*976A>G) c.*841A>G (n.*841A>G) | gnomAD v4 |
8 | g.43122881C>A | CA581929133 | POMK | c.*4C>A (n.*4C>A) c.*853C>A (n.*853C>A) c.775C>A (n.775C>A) c.*977C>A (n.*977C>A) c.*842C>A (n.*842C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43122881C= | CA1779736194 | POMK | c.*4C= (n.*4C=) c.*853C= (n.*853C=) c.775C= (n.775C=) c.*977C= (n.*977C=) c.*842C= (n.*842C=) | |
8 | g.43122882C= | CA1779736197 | POMK | c.*5C= (n.*5C=) c.*854C= (n.*854C=) c.776C= (n.776C=) c.*978C= (n.*978C=) c.*843C= (n.*843C=) | |
8 | g.43122882C>T | CA581929134 | POMK | c.*5C>T (n.*5C>T) c.*854C>T (n.*854C>T) c.776C>T (n.776C>T) c.*978C>T (n.*978C>T) c.*843C>T (n.*843C>T) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.43122883A>G | CA2687148722 | POMK | c.*6A>G (n.*6A>G) c.*855A>G (n.*855A>G) c.777A>G (n.777A>G) c.*979A>G (n.*979A>G) c.*844A>G (n.*844A>G) | gnomAD v4 |
8 | g.43122884G>A | CA2687148723 | POMK | c.*7G>A (n.*7G>A) c.*856G>A (n.*856G>A) c.778G>A (n.778G>A) c.*980G>A (n.*980G>A) c.*845G>A (n.*845G>A) | gnomAD v4 |