Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.43122682A>C | CA460787365 | POMK | c.858A>C (p.Pro286=) c.*654A>C (n.*654A>C) c.576A>C (p.Pro192=) c.*778A>C (n.*778A>C) c.816A>C (p.Pro272=) c.*643A>C (n.*643A>C) | |
8 | g.43122682A>G | CA460787366 | POMK | c.858A>G (p.Pro286=) c.*654A>G (n.*654A>G) c.576A>G (p.Pro192=) c.*778A>G (n.*778A>G) c.816A>G (p.Pro272=) c.*643A>G (n.*643A>G) | gnomAD v4 |
8 | g.43122682A>T | CA460787367 | POMK | c.858A>T (p.Pro286=) c.*654A>T (n.*654A>T) c.576A>T (p.Pro192=) c.*778A>T (n.*778A>T) c.816A>T (p.Pro272=) c.*643A>T (n.*643A>T) | |
8 | g.43122683G>A | CA371122832 | POMK | c.859G>A (p.Asp287Asn) c.*655G>A (n.*655G>A) c.577G>A (p.Asp193Asn) c.*779G>A (n.*779G>A) c.817G>A (p.Asp273Asn) c.*644G>A (n.*644G>A) | ClinVar |
8 | g.43122683G>C | CA371122833 | POMK | c.859G>C (p.Asp287His) c.*655G>C (n.*655G>C) c.577G>C (p.Asp193His) c.*779G>C (n.*779G>C) c.817G>C (p.Asp273His) c.*644G>C (n.*644G>C) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
8 | g.43122683G= | CA1779747833 | POMK | c.859G= (p.Asp287=) c.*655G= (n.*655G=) c.577G= (p.Asp193=) c.*779G= (n.*779G=) c.817G= (p.Asp273=) c.*644G= (n.*644G=) | |
8 | g.43122683G>T | CA371122834 | POMK | c.859G>T (p.Asp287Tyr) c.*655G>T (n.*655G>T) c.577G>T (p.Asp193Tyr) c.*779G>T (n.*779G>T) c.817G>T (p.Asp273Tyr) c.*644G>T (n.*644G>T) | |
8 | g.43122684A= | CA1779747839 | POMK | c.860A= (p.Asp287=) c.*656A= (n.*656A=) c.578A= (p.Asp193=) c.*780A= (n.*780A=) c.818A= (p.Asp273=) c.*645A= (n.*645A=) | |
8 | g.43122684A>C | CA371122835 | POMK | c.860A>C (p.Asp287Ala) c.*656A>C (n.*656A>C) c.578A>C (p.Asp193Ala) c.*780A>C (n.*780A>C) c.818A>C (p.Asp273Ala) c.*645A>C (n.*645A>C) | |
8 | g.43122684A>G | CA4736365 | POMK | c.860A>G (p.Asp287Gly) c.*656A>G (n.*656A>G) c.578A>G (p.Asp193Gly) c.*780A>G (n.*780A>G) c.818A>G (p.Asp273Gly) c.*645A>G (n.*645A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43122684A>T | CA371122836 | POMK | c.860A>T (p.Asp287Val) c.*656A>T (n.*656A>T) c.578A>T (p.Asp193Val) c.*780A>T (n.*780A>T) c.818A>T (p.Asp273Val) c.*645A>T (n.*645A>T) | gnomAD v4 |
8 | g.43122685C>A | CA371122837 | POMK | c.861C>A (p.Asp287Glu) c.*657C>A (n.*657C>A) c.579C>A (p.Asp193Glu) c.*781C>A (n.*781C>A) c.819C>A (p.Asp273Glu) c.*646C>A (n.*646C>A) | |
8 | g.43122685C= | CA1779747843 | POMK | c.861C= (p.Asp287=) c.*657C= (n.*657C=) c.579C= (p.Asp193=) c.*781C= (n.*781C=) c.819C= (p.Asp273=) c.*646C= (n.*646C=) | |
8 | g.43122685C>G | CA371122838 | POMK | c.861C>G (p.Asp287Glu) c.*657C>G (n.*657C>G) c.579C>G (p.Asp193Glu) c.*781C>G (n.*781C>G) c.819C>G (p.Asp273Glu) c.*646C>G (n.*646C>G) | |
8 | g.43122685C>T | CA4736366 | POMK | c.861C>T (p.Asp287=) c.*657C>T (n.*657C>T) c.579C>T (p.Asp193=) c.*781C>T (n.*781C>T) c.819C>T (p.Asp273=) c.*646C>T (n.*646C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43122686A= | CA1779747849 | POMK | c.862A= (p.Ile288=) c.*658A= (n.*658A=) c.580A= (p.Ile194=) c.*782A= (n.*782A=) c.820A= (p.Ile274=) c.*647A= (n.*647A=) | |
8 | g.43122686A>C | CA371122839 | POMK | c.862A>C (p.Ile288Leu) c.*658A>C (n.*658A>C) c.580A>C (p.Ile194Leu) c.*782A>C (n.*782A>C) c.820A>C (p.Ile274Leu) c.*647A>C (n.*647A>C) | |
8 | g.43122686A>G | CA371122840 | POMK | c.862A>G (p.Ile288Val) c.*658A>G (n.*658A>G) c.580A>G (p.Ile194Val) c.*782A>G (n.*782A>G) c.820A>G (p.Ile274Val) c.*647A>G (n.*647A>G) | gnomAD v4 |
8 | g.43122686A>T | CA4736367 | POMK | c.862A>T (p.Ile288Phe) c.*658A>T (n.*658A>T) c.580A>T (p.Ile194Phe) c.*782A>T (n.*782A>T) c.820A>T (p.Ile274Phe) c.*647A>T (n.*647A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.43122687T>A | CA371122843 | POMK | c.863T>A (p.Ile288Asn) c.*659T>A (n.*659T>A) c.581T>A (p.Ile194Asn) c.*783T>A (n.*783T>A) c.821T>A (p.Ile274Asn) c.*648T>A (n.*648T>A) | |
8 | g.43122687T>C | CA371122841 | POMK | c.863T>C (p.Ile288Thr) c.*659T>C (n.*659T>C) c.581T>C (p.Ile194Thr) c.*783T>C (n.*783T>C) c.821T>C (p.Ile274Thr) c.*648T>C (n.*648T>C) | |
8 | g.43122687T>G | CA371122842 | POMK | c.863T>G (p.Ile288Ser) c.*659T>G (n.*659T>G) c.581T>G (p.Ile194Ser) c.*783T>G (n.*783T>G) c.821T>G (p.Ile274Ser) c.*648T>G (n.*648T>G) | |
8 | g.43122688C>A | CA460787372 | POMK | c.864C>A (p.Ile288=) c.*660C>A (n.*660C>A) c.582C>A (p.Ile194=) c.*784C>A (n.*784C>A) c.822C>A (p.Ile274=) c.*649C>A (n.*649C>A) | |
8 | g.43122688C= | CA1779747852 | POMK | c.864C= (p.Ile288=) c.*660C= (n.*660C=) c.582C= (p.Ile194=) c.*784C= (n.*784C=) c.822C= (p.Ile274=) c.*649C= (n.*649C=) | |
8 | g.43122688C>G | CA371122844 | POMK | c.864C>G (p.Ile288Met) c.*660C>G (n.*660C>G) c.582C>G (p.Ile194Met) c.*784C>G (n.*784C>G) c.822C>G (p.Ile274Met) c.*649C>G (n.*649C>G) | |
8 | g.43122688C>T | CA4736368 | POMK | c.864C>T (p.Ile288=) c.*660C>T (n.*660C>T) c.582C>T (p.Ile194=) c.*784C>T (n.*784C>T) c.822C>T (p.Ile274=) c.*649C>T (n.*649C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.43122689T>A | CA371122845 | POMK | c.865T>A (p.Ser289Thr) c.*661T>A (n.*661T>A) c.583T>A (p.Ser195Thr) c.*785T>A (n.*785T>A) c.823T>A (p.Ser275Thr) c.*650T>A (n.*650T>A) | |
8 | g.43122689T>C | CA371122846 | POMK | c.865T>C (p.Ser289Pro) c.*661T>C (n.*661T>C) c.583T>C (p.Ser195Pro) c.*785T>C (n.*785T>C) c.823T>C (p.Ser275Pro) c.*650T>C (n.*650T>C) | gnomAD v4 |
8 | g.43122689T>G | CA371122847 | POMK | c.865T>G (p.Ser289Ala) c.*661T>G (n.*661T>G) c.583T>G (p.Ser195Ala) c.*785T>G (n.*785T>G) c.823T>G (p.Ser275Ala) c.*650T>G (n.*650T>G) | |
8 | g.43122690C>A | CA371122848 | POMK | c.866C>A (p.Ser289Tyr) c.*662C>A (n.*662C>A) c.584C>A (p.Ser195Tyr) c.*786C>A (n.*786C>A) c.824C>A (p.Ser275Tyr) c.*651C>A (n.*651C>A) | |
8 | g.43122690C>G | CA371122849 | POMK | c.866C>G (p.Ser289Cys) c.*662C>G (n.*662C>G) c.584C>G (p.Ser195Cys) c.*786C>G (n.*786C>G) c.824C>G (p.Ser275Cys) c.*651C>G (n.*651C>G) | |
8 | g.43122690C>T | CA371122850 | POMK | c.866C>T (p.Ser289Phe) c.*662C>T (n.*662C>T) c.584C>T (p.Ser195Phe) c.*786C>T (n.*786C>T) c.824C>T (p.Ser275Phe) c.*651C>T (n.*651C>T) | |
8 | g.43122691C>A | CA460787376 | POMK | c.867C>A (p.Ser289=) c.*663C>A (n.*663C>A) c.585C>A (p.Ser195=) c.*787C>A (n.*787C>A) c.825C>A (p.Ser275=) c.*652C>A (n.*652C>A) | |
8 | g.43122691C>G | CA460787377 | POMK | c.867C>G (p.Ser289=) c.*663C>G (n.*663C>G) c.585C>G (p.Ser195=) c.*787C>G (n.*787C>G) c.825C>G (p.Ser275=) c.*652C>G (n.*652C>G) | |
8 | g.43122691C>T | CA460787378 | POMK | c.867C>T (p.Ser289=) c.*663C>T (n.*663C>T) c.585C>T (p.Ser195=) c.*787C>T (n.*787C>T) c.825C>T (p.Ser275=) c.*652C>T (n.*652C>T) | |
8 | g.43122692A>C | CA371122851 | POMK | c.868A>C (p.Ser290Arg) c.*664A>C (n.*664A>C) c.586A>C (p.Ser196Arg) c.*788A>C (n.*788A>C) c.826A>C (p.Ser276Arg) c.*653A>C (n.*653A>C) | |
8 | g.43122692A>G | CA371122852 | POMK | c.868A>G (p.Ser290Gly) c.*664A>G (n.*664A>G) c.586A>G (p.Ser196Gly) c.*788A>G (n.*788A>G) c.826A>G (p.Ser276Gly) c.*653A>G (n.*653A>G) | |
8 | g.43122692A>T | CA371122853 | POMK | c.868A>T (p.Ser290Cys) c.*664A>T (n.*664A>T) c.586A>T (p.Ser196Cys) c.*788A>T (n.*788A>T) c.826A>T (p.Ser276Cys) c.*653A>T (n.*653A>T) | |
8 | g.43122693G>A | CA371122856 | POMK | c.869G>A (p.Ser290Asn) c.*665G>A (n.*665G>A) c.587G>A (p.Ser196Asn) c.*789G>A (n.*789G>A) c.827G>A (p.Ser276Asn) c.*654G>A (n.*654G>A) | |
8 | g.43122693G>C | CA371122855 | POMK | c.869G>C (p.Ser290Thr) c.*665G>C (n.*665G>C) c.587G>C (p.Ser196Thr) c.*789G>C (n.*789G>C) c.827G>C (p.Ser276Thr) c.*654G>C (n.*654G>C) | ClinVar |
8 | g.43122693G>T | CA371122854 | POMK | c.869G>T (p.Ser290Ile) c.*665G>T (n.*665G>T) c.587G>T (p.Ser196Ile) c.*789G>T (n.*789G>T) c.827G>T (p.Ser276Ile) c.*654G>T (n.*654G>T) | gnomAD v4 |
8 | g.43122694T>A | CA371122858 | POMK | c.870T>A (p.Ser290Arg) c.*666T>A (n.*666T>A) c.588T>A (p.Ser196Arg) c.*790T>A (n.*790T>A) c.828T>A (p.Ser276Arg) c.*655T>A (n.*655T>A) | |
8 | g.43122694T>C | CA460787382 | POMK | c.870T>C (p.Ser290=) c.*666T>C (n.*666T>C) c.588T>C (p.Ser196=) c.*790T>C (n.*790T>C) c.828T>C (p.Ser276=) c.*655T>C (n.*655T>C) | |
8 | g.43122694T>G | CA371122857 | POMK | c.870T>G (p.Ser290Arg) c.*666T>G (n.*666T>G) c.588T>G (p.Ser196Arg) c.*790T>G (n.*790T>G) c.828T>G (p.Ser276Arg) c.*655T>G (n.*655T>G) | |
8 | g.43122695T>A | CA371122859 | POMK | c.871T>A (p.Phe291Ile) c.*667T>A (n.*667T>A) c.589T>A (p.Phe197Ile) c.*791T>A (n.*791T>A) c.829T>A (p.Phe277Ile) c.*656T>A (n.*656T>A) | |
8 | g.43122695T>C | CA371122860 | POMK | c.871T>C (p.Phe291Leu) c.*667T>C (n.*667T>C) c.589T>C (p.Phe197Leu) c.*791T>C (n.*791T>C) c.829T>C (p.Phe277Leu) c.*656T>C (n.*656T>C) | |
8 | g.43122695T>G | CA371122861 | POMK | c.871T>G (p.Phe291Val) c.*667T>G (n.*667T>G) c.589T>G (p.Phe197Val) c.*791T>G (n.*791T>G) c.829T>G (p.Phe277Val) c.*656T>G (n.*656T>G) | |
8 | g.43122696T>A | CA371122862 | POMK | c.872T>A (p.Phe291Tyr) c.*668T>A (n.*668T>A) c.590T>A (p.Phe197Tyr) c.*792T>A (n.*792T>A) c.830T>A (p.Phe277Tyr) c.*657T>A (n.*657T>A) | |
8 | g.43122696T>C | CA371122863 | POMK | c.872T>C (p.Phe291Ser) c.*668T>C (n.*668T>C) c.590T>C (p.Phe197Ser) c.*792T>C (n.*792T>C) c.830T>C (p.Phe277Ser) c.*657T>C (n.*657T>C) | |
8 | g.43122696T>G | CA371122864 | POMK | c.872T>G (p.Phe291Cys) c.*668T>G (n.*668T>G) c.590T>G (p.Phe197Cys) c.*792T>G (n.*792T>G) c.830T>G (p.Phe277Cys) c.*657T>G (n.*657T>G) | |
8 | g.43122697C>A | CA371122865 | POMK | c.873C>A (p.Phe291Leu) c.*669C>A (n.*669C>A) c.591C>A (p.Phe197Leu) c.*793C>A (n.*793C>A) c.831C>A (p.Phe277Leu) c.*658C>A (n.*658C>A) | |
8 | g.43122697C>G | CA371122866 | POMK | c.873C>G (p.Phe291Leu) c.*669C>G (n.*669C>G) c.591C>G (p.Phe197Leu) c.*793C>G (n.*793C>G) c.831C>G (p.Phe277Leu) c.*658C>G (n.*658C>G) | |
8 | g.43122697C>T | CA460787387 | POMK | c.873C>T (p.Phe291=) c.*669C>T (n.*669C>T) c.591C>T (p.Phe197=) c.*793C>T (n.*793C>T) c.831C>T (p.Phe277=) c.*658C>T (n.*658C>T) | gnomAD v4 COSMIC COSMIC |
8 | g.43122698C>A | CA371122867 | POMK | c.874C>A (p.Leu292Ile) c.*670C>A (n.*670C>A) c.592C>A (p.Leu198Ile) c.*794C>A (n.*794C>A) c.832C>A (p.Leu278Ile) c.*659C>A (n.*659C>A) | |
8 | g.43122698C= | CA1779747854 | POMK | c.874C= (p.Leu292=) c.*670C= (n.*670C=) c.592C= (p.Leu198=) c.*794C= (n.*794C=) c.832C= (p.Leu278=) c.*659C= (n.*659C=) | |
8 | g.43122698C>G | CA371122868 | POMK | c.874C>G (p.Leu292Val) c.*670C>G (n.*670C>G) c.592C>G (p.Leu198Val) c.*794C>G (n.*794C>G) c.832C>G (p.Leu278Val) c.*659C>G (n.*659C>G) | |
8 | g.43122698C>T | CA371122869 | POMK | c.874C>T (p.Leu292Phe) c.*670C>T (n.*670C>T) c.592C>T (p.Leu198Phe) c.*794C>T (n.*794C>T) c.832C>T (p.Leu278Phe) c.*659C>T (n.*659C>T) | ClinVar dbSNP |
8 | g.43122699T>A | CA371122872 | POMK | c.875T>A (p.Leu292His) c.*671T>A (n.*671T>A) c.593T>A (p.Leu198His) c.*795T>A (n.*795T>A) c.833T>A (p.Leu278His) c.*660T>A (n.*660T>A) | |
8 | g.43122699T>C | CA371122871 | POMK | c.875T>C (p.Leu292Pro) c.*671T>C (n.*671T>C) c.593T>C (p.Leu198Pro) c.*795T>C (n.*795T>C) c.833T>C (p.Leu278Pro) c.*660T>C (n.*660T>C) | |
8 | g.43122699T>G | CA371122870 | POMK | c.875T>G (p.Leu292Arg) c.*671T>G (n.*671T>G) c.593T>G (p.Leu198Arg) c.*795T>G (n.*795T>G) c.833T>G (p.Leu278Arg) c.*660T>G (n.*660T>G) | |
8 | g.43122700T>A | CA460787389 | POMK | c.876T>A (p.Leu292=) c.*672T>A (n.*672T>A) c.594T>A (p.Leu198=) c.*796T>A (n.*796T>A) c.834T>A (p.Leu278=) c.*661T>A (n.*661T>A) | |
8 | g.43122700T>C | CA460787391 | POMK | c.876T>C (p.Leu292=) c.*672T>C (n.*672T>C) c.594T>C (p.Leu198=) c.*796T>C (n.*796T>C) c.834T>C (p.Leu278=) c.*661T>C (n.*661T>C) | |
8 | g.43122700T>G | CA460787393 | POMK | c.876T>G (p.Leu292=) c.*672T>G (n.*672T>G) c.594T>G (p.Leu198=) c.*796T>G (n.*796T>G) c.834T>G (p.Leu278=) c.*661T>G (n.*661T>G) | |
8 | g.43122701C>A | CA371122873 | POMK | c.877C>A (p.Leu293Met) c.*673C>A (n.*673C>A) c.595C>A (p.Leu199Met) c.*797C>A (n.*797C>A) c.835C>A (p.Leu279Met) c.*662C>A (n.*662C>A) | |
8 | g.43122701C= | CA1779747858 | POMK | c.877C= (p.Leu293=) c.*673C= (n.*673C=) c.595C= (p.Leu199=) c.*797C= (n.*797C=) c.835C= (p.Leu279=) c.*662C= (n.*662C=) | |
8 | g.43122701C>G | CA371122874 | POMK | c.877C>G (p.Leu293Val) c.*673C>G (n.*673C>G) c.595C>G (p.Leu199Val) c.*797C>G (n.*797C>G) c.835C>G (p.Leu279Val) c.*662C>G (n.*662C>G) | |
8 | g.43122701C>T | CA4736369 | POMK | c.877C>T (p.Leu293=) c.*673C>T (n.*673C>T) c.595C>T (p.Leu199=) c.*797C>T (n.*797C>T) c.835C>T (p.Leu279=) c.*662C>T (n.*662C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43122702T>A | CA371122875 | POMK | c.878T>A (p.Leu293Gln) c.*674T>A (n.*674T>A) c.596T>A (p.Leu199Gln) c.*798T>A (n.*798T>A) c.836T>A (p.Leu279Gln) c.*663T>A (n.*663T>A) | |
8 | g.43122702T>C | CA371122876 | POMK | c.878T>C (p.Leu293Pro) c.*674T>C (n.*674T>C) c.596T>C (p.Leu199Pro) c.*798T>C (n.*798T>C) c.836T>C (p.Leu279Pro) c.*663T>C (n.*663T>C) | |
8 | g.43122702T>G | CA371122877 | POMK | c.878T>G (p.Leu293Arg) c.*674T>G (n.*674T>G) c.596T>G (p.Leu199Arg) c.*798T>G (n.*798T>G) c.836T>G (p.Leu279Arg) c.*663T>G (n.*663T>G) | |
8 | g.43122702_43122715delinsTGGGGCACATTGAA | CA1779747862 | POMK | c.878_891delinsTGGGGCACATTGAA (p.Leu293=) c.*674_*687delinsTGGGGCACATTGAA (n.*674_*687delinsTGGGGCACATTGAA) c.596_609delinsTGGGGCACATTGAA (p.Leu199=) c.*798_*811delinsTGGGGCACATTGAA (n.*798_*811delinsTGGGGCACATTGAA) c.836_849delinsTGGGGCACATTGAA (p.Leu279=) c.*663_*676delinsTGGGGCACATTGAA (n.*663_*676delinsTGGGGCACATTGAA) | |
8 | g.43122703G>A | CA460787394 | POMK | c.879G>A (p.Leu293=) c.*675G>A (n.*675G>A) c.597G>A (p.Leu199=) c.*799G>A (n.*799G>A) c.837G>A (p.Leu279=) c.*664G>A (n.*664G>A) | |
8 | g.43122703G>C | CA460787395 | POMK | c.879G>C (p.Leu293=) c.*675G>C (n.*675G>C) c.597G>C (p.Leu199=) c.*799G>C (n.*799G>C) c.837G>C (p.Leu279=) c.*664G>C (n.*664G>C) | gnomAD v4 |
8 | g.43122703G>T | CA460787396 | POMK | c.879G>T (p.Leu293=) c.*675G>T (n.*675G>T) c.597G>T (p.Leu199=) c.*799G>T (n.*799G>T) c.837G>T (p.Leu279=) c.*664G>T (n.*664G>T) | |
8 | g.43122706del | CA2687148571 | POMK | c.882del (p.His295ThrfsTer?) c.*678del (n.*678del) c.600del (p.His201ThrfsTer?) c.*802del (n.*802del) c.840del (p.His281ThrfsTer?) c.*667del (n.*667del) | gnomAD v4 |
8 | g.43122706_43122718del | CA1113252749 | POMK | c.882_894del (p.His295ValfsTer?) c.*678_*690del (n.*678_*690del) c.600_612del (p.His201ValfsTer?) c.*802_*814del (n.*802_*814del) c.840_852del (p.His281ValfsTer?) c.*667_*679del (n.*667_*679del) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.43122704G>A | CA371122878 | POMK | c.880G>A (p.Gly294Arg) c.*676G>A (n.*676G>A) c.598G>A (p.Gly200Arg) c.*800G>A (n.*800G>A) c.838G>A (p.Gly280Arg) c.*665G>A (n.*665G>A) | |
8 | g.43122704G>C | CA371122879 | POMK | c.880G>C (p.Gly294Arg) c.*676G>C (n.*676G>C) c.598G>C (p.Gly200Arg) c.*800G>C (n.*800G>C) c.838G>C (p.Gly280Arg) c.*665G>C (n.*665G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43122704G= | CA1779747865 | POMK | c.880G= (p.Gly294=) c.*676G= (n.*676G=) c.598G= (p.Gly200=) c.*800G= (n.*800G=) c.838G= (p.Gly280=) c.*665G= (n.*665G=) | |
8 | g.43122704G>T | CA371122880 | POMK | c.880G>T (p.Gly294Trp) c.*676G>T (n.*676G>T) c.598G>T (p.Gly200Trp) c.*800G>T (n.*800G>T) c.838G>T (p.Gly280Trp) c.*665G>T (n.*665G>T) | |
8 | g.43122705G>A | CA371122881 | POMK | c.881G>A (p.Gly294Glu) c.*677G>A (n.*677G>A) c.599G>A (p.Gly200Glu) c.*801G>A (n.*801G>A) c.839G>A (p.Gly280Glu) c.*666G>A (n.*666G>A) | dbSNP |
8 | g.43122705G>C | CA371122882 | POMK | c.881G>C (p.Gly294Ala) c.*677G>C (n.*677G>C) c.599G>C (p.Gly200Ala) c.*801G>C (n.*801G>C) c.839G>C (p.Gly280Ala) c.*666G>C (n.*666G>C) | |
8 | g.43122705G= | CA1779747867 | POMK | c.881G= (p.Gly294=) c.*677G= (n.*677G=) c.599G= (p.Gly200=) c.*801G= (n.*801G=) c.839G= (p.Gly280=) c.*666G= (n.*666G=) | |
8 | g.43122705G>T | CA371122883 | POMK | c.881G>T (p.Gly294Val) c.*677G>T (n.*677G>T) c.599G>T (p.Gly200Val) c.*801G>T (n.*801G>T) c.839G>T (p.Gly280Val) c.*666G>T (n.*666G>T) | |
8 | g.43122706G>A | CA4736370 | POMK | c.882G>A (p.Gly294=) c.*678G>A (n.*678G>A) c.600G>A (p.Gly200=) c.*802G>A (n.*802G>A) c.840G>A (p.Gly280=) c.*667G>A (n.*667G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43122706G>C | CA460787400 | POMK | c.882G>C (p.Gly294=) c.*678G>C (n.*678G>C) c.600G>C (p.Gly200=) c.*802G>C (n.*802G>C) c.840G>C (p.Gly280=) c.*667G>C (n.*667G>C) | |
8 | g.43122706G= | CA1779747870 | POMK | c.882G= (p.Gly294=) c.*678G= (n.*678G=) c.600G= (p.Gly200=) c.*802G= (n.*802G=) c.840G= (p.Gly280=) c.*667G= (n.*667G=) | |
8 | g.43122706G>T | CA460787399 | POMK | c.882G>T (p.Gly294=) c.*678G>T (n.*678G>T) c.600G>T (p.Gly200=) c.*802G>T (n.*802G>T) c.840G>T (p.Gly280=) c.*667G>T (n.*667G>T) | |
8 | g.43122707C>A | CA371122885 | POMK | c.883C>A (p.His295Asn) c.*679C>A (n.*679C>A) c.601C>A (p.His201Asn) c.*803C>A (n.*803C>A) c.841C>A (p.His281Asn) c.*668C>A (n.*668C>A) | |
8 | g.43122707C= | CA1779747874 | POMK | c.883C= (p.His295=) c.*679C= (n.*679C=) c.601C= (p.His201=) c.*803C= (n.*803C=) c.841C= (p.His281=) c.*668C= (n.*668C=) | |
8 | g.43122707C>G | CA371122886 | POMK | c.883C>G (p.His295Asp) c.*679C>G (n.*679C>G) c.601C>G (p.His201Asp) c.*803C>G (n.*803C>G) c.841C>G (p.His281Asp) c.*668C>G (n.*668C>G) | gnomAD v4 |
8 | g.43122707C>T | CA371122884 | POMK | c.883C>T (p.His295Tyr) c.*679C>T (n.*679C>T) c.601C>T (p.His201Tyr) c.*803C>T (n.*803C>T) c.841C>T (p.His281Tyr) c.*668C>T (n.*668C>T) | ClinVar dbSNP gnomAD v4 |
8 | g.43122708A>C | CA371122887 | POMK | c.884A>C (p.His295Pro) c.*680A>C (n.*680A>C) c.602A>C (p.His201Pro) c.*804A>C (n.*804A>C) c.842A>C (p.His281Pro) c.*669A>C (n.*669A>C) | |
8 | g.43122708A>G | CA371122888 | POMK | c.884A>G (p.His295Arg) c.*680A>G (n.*680A>G) c.602A>G (p.His201Arg) c.*804A>G (n.*804A>G) c.842A>G (p.His281Arg) c.*669A>G (n.*669A>G) | |
8 | g.43122708A>T | CA371122889 | POMK | c.884A>T (p.His295Leu) c.*680A>T (n.*680A>T) c.602A>T (p.His201Leu) c.*804A>T (n.*804A>T) c.842A>T (p.His281Leu) c.*669A>T (n.*669A>T) | gnomAD v4 |
8 | g.43122709C>A | CA371122890 | POMK | c.885C>A (p.His295Gln) c.*681C>A (n.*681C>A) c.603C>A (p.His201Gln) c.*805C>A (n.*805C>A) c.843C>A (p.His281Gln) c.*670C>A (n.*670C>A) | |
8 | g.43122709C= | CA1779747880 | POMK | c.885C= (p.His295=) c.*681C= (n.*681C=) c.603C= (p.His201=) c.*805C= (n.*805C=) c.843C= (p.His281=) c.*670C= (n.*670C=) | |
8 | g.43122709C>G | CA371122891 | POMK | c.885C>G (p.His295Gln) c.*681C>G (n.*681C>G) c.603C>G (p.His201Gln) c.*805C>G (n.*805C>G) c.843C>G (p.His281Gln) c.*670C>G (n.*670C>G) | |
8 | g.43122709C>T | CA460787403 | POMK | c.885C>T (p.His295=) c.*681C>T (n.*681C>T) c.603C>T (p.His201=) c.*805C>T (n.*805C>T) c.843C>T (p.His281=) c.*670C>T (n.*670C>T) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.43122710A= | CA1779747885 | POMK | c.886A= (p.Ile296=) c.*682A= (n.*682A=) c.604A= (p.Ile202=) c.*806A= (n.*806A=) c.844A= (p.Ile282=) c.*671A= (n.*671A=) | |
8 | g.43122710A>C | CA371122892 | POMK | c.886A>C (p.Ile296Leu) c.*682A>C (n.*682A>C) c.604A>C (p.Ile202Leu) c.*806A>C (n.*806A>C) c.844A>C (p.Ile282Leu) c.*671A>C (n.*671A>C) | |
8 | g.43122710A>G | CA4736371 | POMK | c.886A>G (p.Ile296Val) c.*682A>G (n.*682A>G) c.604A>G (p.Ile202Val) c.*806A>G (n.*806A>G) c.844A>G (p.Ile282Val) c.*671A>G (n.*671A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43122710A>T | CA371122893 | POMK | c.886A>T (p.Ile296Phe) c.*682A>T (n.*682A>T) c.604A>T (p.Ile202Phe) c.*806A>T (n.*806A>T) c.844A>T (p.Ile282Phe) c.*671A>T (n.*671A>T) | |
8 | g.43122712_43122724del | CA2687148572 | POMK | c.888_900del (p.Glu297TrpfsTer?) c.*684_*696del (n.*684_*696del) c.606_618del (p.Glu203TrpfsTer?) c.*808_*820del (n.*808_*820del) c.846_858del (p.Glu283TrpfsTer?) c.*673_*685del (n.*673_*685del) | gnomAD v4 |
8 | g.43122711T>A | CA176080688 | POMK | c.887T>A (p.Ile296Asn) c.*683T>A (n.*683T>A) c.605T>A (p.Ile202Asn) c.*807T>A (n.*807T>A) c.845T>A (p.Ile282Asn) c.*672T>A (n.*672T>A) | dbSNP gnomAD v4 |
8 | g.43122711T>C | CA4736372 | POMK | c.887T>C (p.Ile296Thr) c.*683T>C (n.*683T>C) c.605T>C (p.Ile202Thr) c.*807T>C (n.*807T>C) c.845T>C (p.Ile282Thr) c.*672T>C (n.*672T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43122711T>G | CA371122894 | POMK | c.887T>G (p.Ile296Ser) c.*683T>G (n.*683T>G) c.605T>G (p.Ile202Ser) c.*807T>G (n.*807T>G) c.845T>G (p.Ile282Ser) c.*672T>G (n.*672T>G) | |
8 | g.43122711T= | CA1779747888 | POMK | c.887T= (p.Ile296=) c.*683T= (n.*683T=) c.605T= (p.Ile202=) c.*807T= (n.*807T=) c.845T= (p.Ile282=) c.*672T= (n.*672T=) | |
8 | g.43122712T>A | CA460787406 | POMK | c.888T>A (p.Ile296=) c.*684T>A (n.*684T>A) c.606T>A (p.Ile202=) c.*808T>A (n.*808T>A) c.846T>A (p.Ile282=) c.*673T>A (n.*673T>A) | |
8 | g.43122712T>C | CA460787407 | POMK | c.888T>C (p.Ile296=) c.*684T>C (n.*684T>C) c.606T>C (p.Ile202=) c.*808T>C (n.*808T>C) c.846T>C (p.Ile282=) c.*673T>C (n.*673T>C) | |
8 | g.43122712T>G | CA371122895 | POMK | c.888T>G (p.Ile296Met) c.*684T>G (n.*684T>G) c.606T>G (p.Ile202Met) c.*808T>G (n.*808T>G) c.846T>G (p.Ile282Met) c.*673T>G (n.*673T>G) | |
8 | g.43122713G>A | CA371122896 | POMK | c.889G>A (p.Glu297Lys) c.*685G>A (n.*685G>A) c.607G>A (p.Glu203Lys) c.*809G>A (n.*809G>A) c.847G>A (p.Glu283Lys) c.*674G>A (n.*674G>A) | COSMIC COSMIC |
8 | g.43122713G>C | CA371122897 | POMK | c.889G>C (p.Glu297Gln) c.*685G>C (n.*685G>C) c.607G>C (p.Glu203Gln) c.*809G>C (n.*809G>C) c.847G>C (p.Glu283Gln) c.*674G>C (n.*674G>C) | |
8 | g.43122713G= | CA1779747890 | POMK | c.889G= (p.Glu297=) c.*685G= (n.*685G=) c.607G= (p.Glu203=) c.*809G= (n.*809G=) c.847G= (p.Glu283=) c.*674G= (n.*674G=) | |
8 | g.43122713G>T | CA371122898 | POMK | c.889G>T (p.Glu297Ter) c.*685G>T (n.*685G>T) c.607G>T (p.Glu203Ter) c.*809G>T (n.*809G>T) c.847G>T (p.Glu283Ter) c.*674G>T (n.*674G>T) | |
8 | g.43122714A>C | CA371122899 | POMK | c.890A>C (p.Glu297Ala) c.*686A>C (n.*686A>C) c.608A>C (p.Glu203Ala) c.*810A>C (n.*810A>C) c.848A>C (p.Glu283Ala) c.*675A>C (n.*675A>C) | |
8 | g.43122714A>G | CA371122901 | POMK | c.890A>G (p.Glu297Gly) c.*686A>G (n.*686A>G) c.608A>G (p.Glu203Gly) c.*810A>G (n.*810A>G) c.848A>G (p.Glu283Gly) c.*675A>G (n.*675A>G) | |
8 | g.43122714A>T | CA371122900 | POMK | c.890A>T (p.Glu297Val) c.*686A>T (n.*686A>T) c.608A>T (p.Glu203Val) c.*810A>T (n.*810A>T) c.848A>T (p.Glu283Val) c.*675A>T (n.*675A>T) | |
8 | g.43122715dup | CA1779747891 | POMK | c.891dup (p.Gly298ArgfsTer3) c.*687dup (n.*687dup) c.609dup (p.Gly204ArgfsTer3) c.*811dup (n.*811dup) c.849dup (p.Gly284ArgfsTer3) c.*676dup (n.*676dup) | dbSNP |
8 | g.43122715A>C | CA371122902 | POMK | c.891A>C (p.Glu297Asp) c.*687A>C (n.*687A>C) c.609A>C (p.Glu203Asp) c.*811A>C (n.*811A>C) c.849A>C (p.Glu283Asp) c.*676A>C (n.*676A>C) | |
8 | g.43122715A>G | CA460787409 | POMK | c.891A>G (p.Glu297=) c.*687A>G (n.*687A>G) c.609A>G (p.Glu203=) c.*811A>G (n.*811A>G) c.849A>G (p.Glu283=) c.*676A>G (n.*676A>G) | |
8 | g.43122715A>T | CA371122903 | POMK | c.891A>T (p.Glu297Asp) c.*687A>T (n.*687A>T) c.609A>T (p.Glu203Asp) c.*811A>T (n.*811A>T) c.849A>T (p.Glu283Asp) c.*676A>T (n.*676A>T) | |
8 | g.43122716G>A | CA371122904 | POMK | c.892G>A (p.Gly298Arg) c.*688G>A (n.*688G>A) c.610G>A (p.Gly204Arg) c.*812G>A (n.*812G>A) c.850G>A (p.Gly284Arg) c.*677G>A (n.*677G>A) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.43122716G>C | CA371122905 | POMK | c.892G>C (p.Gly298Arg) c.*688G>C (n.*688G>C) c.610G>C (p.Gly204Arg) c.*812G>C (n.*812G>C) c.850G>C (p.Gly284Arg) c.*677G>C (n.*677G>C) | |
8 | g.43122716G= | CA1779747894 | POMK | c.892G= (p.Gly298=) c.*688G= (n.*688G=) c.610G= (p.Gly204=) c.*812G= (n.*812G=) c.850G= (p.Gly284=) c.*677G= (n.*677G=) | |
8 | g.43122716G>T | CA371122906 | POMK | c.892G>T (p.Gly298Trp) c.*688G>T (n.*688G>T) c.610G>T (p.Gly204Trp) c.*812G>T (n.*812G>T) c.850G>T (p.Gly284Trp) c.*677G>T (n.*677G>T) | |
8 | g.43122717G>A | CA371122907 | POMK | c.893G>A (p.Gly298Glu) c.*689G>A (n.*689G>A) c.611G>A (p.Gly204Glu) c.*813G>A (n.*813G>A) c.851G>A (p.Gly284Glu) c.*678G>A (n.*678G>A) | |
8 | g.43122717G>C | CA371122908 | POMK | c.893G>C (p.Gly298Ala) c.*689G>C (n.*689G>C) c.611G>C (p.Gly204Ala) c.*813G>C (n.*813G>C) c.851G>C (p.Gly284Ala) c.*678G>C (n.*678G>C) | |
8 | g.43122717G>T | CA371122909 | POMK | c.893G>T (p.Gly298Val) c.*689G>T (n.*689G>T) c.611G>T (p.Gly204Val) c.*813G>T (n.*813G>T) c.851G>T (p.Gly284Val) c.*678G>T (n.*678G>T) | |
8 | g.43122718G>A | CA460787410 | POMK | c.894G>A (p.Gly298=) c.*690G>A (n.*690G>A) c.612G>A (p.Gly204=) c.*814G>A (n.*814G>A) c.852G>A (p.Gly284=) c.*679G>A (n.*679G>A) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.43122718G>C | CA460787411 | POMK | c.894G>C (p.Gly298=) c.*690G>C (n.*690G>C) c.612G>C (p.Gly204=) c.*814G>C (n.*814G>C) c.852G>C (p.Gly284=) c.*679G>C (n.*679G>C) | |
8 | g.43122718G= | CA1779747897 | POMK | c.894G= (p.Gly298=) c.*690G= (n.*690G=) c.612G= (p.Gly204=) c.*814G= (n.*814G=) c.852G= (p.Gly284=) c.*679G= (n.*679G=) | |
8 | g.43122718G>T | CA460787412 | POMK | c.894G>T (p.Gly298=) c.*690G>T (n.*690G>T) c.612G>T (p.Gly204=) c.*814G>T (n.*814G>T) c.852G>T (p.Gly284=) c.*679G>T (n.*679G>T) | gnomAD v4 |
8 | g.43122719A>C | CA371122910 | POMK | c.895A>C (p.Ser299Arg) c.*691A>C (n.*691A>C) c.613A>C (p.Ser205Arg) c.*815A>C (n.*815A>C) c.853A>C (p.Ser285Arg) c.*680A>C (n.*680A>C) | gnomAD v4 |
8 | g.43122719A>G | CA371122911 | POMK | c.895A>G (p.Ser299Gly) c.*691A>G (n.*691A>G) c.613A>G (p.Ser205Gly) c.*815A>G (n.*815A>G) c.853A>G (p.Ser285Gly) c.*680A>G (n.*680A>G) | |
8 | g.43122719A>T | CA371122912 | POMK | c.895A>T (p.Ser299Cys) c.*691A>T (n.*691A>T) c.613A>T (p.Ser205Cys) c.*815A>T (n.*815A>T) c.853A>T (p.Ser285Cys) c.*680A>T (n.*680A>T) | |
8 | g.43122720G>A | CA371122913 | POMK | c.896G>A (p.Ser299Asn) c.*692G>A (n.*692G>A) c.614G>A (p.Ser205Asn) c.*816G>A (n.*816G>A) c.854G>A (p.Ser285Asn) c.*681G>A (n.*681G>A) | |
8 | g.43122720G>C | CA371122915 | POMK | c.896G>C (p.Ser299Thr) c.*692G>C (n.*692G>C) c.614G>C (p.Ser205Thr) c.*816G>C (n.*816G>C) c.854G>C (p.Ser285Thr) c.*681G>C (n.*681G>C) | |
8 | g.43122720G>T | CA371122914 | POMK | c.896G>T (p.Ser299Ile) c.*692G>T (n.*692G>T) c.614G>T (p.Ser205Ile) c.*816G>T (n.*816G>T) c.854G>T (p.Ser285Ile) c.*681G>T (n.*681G>T) | |
8 | g.43122721T>A | CA371122916 | POMK | c.897T>A (p.Ser299Arg) c.*693T>A (n.*693T>A) c.615T>A (p.Ser205Arg) c.*817T>A (n.*817T>A) c.855T>A (p.Ser285Arg) c.*682T>A (n.*682T>A) | |
8 | g.43122721T>C | CA460787415 | POMK | c.897T>C (p.Ser299=) c.*693T>C (n.*693T>C) c.615T>C (p.Ser205=) c.*817T>C (n.*817T>C) c.855T>C (p.Ser285=) c.*682T>C (n.*682T>C) | |
8 | g.43122721T>G | CA371122917 | POMK | c.897T>G (p.Ser299Arg) c.*693T>G (n.*693T>G) c.615T>G (p.Ser205Arg) c.*817T>G (n.*817T>G) c.855T>G (p.Ser285Arg) c.*682T>G (n.*682T>G) | |
8 | g.43122722G>A | CA371122918 | POMK | c.898G>A (p.Asp300Asn) c.*694G>A (n.*694G>A) c.616G>A (p.Asp206Asn) c.*818G>A (n.*818G>A) c.856G>A (p.Asp286Asn) c.*683G>A (n.*683G>A) | |
8 | g.43122722G>C | CA371122919 | POMK | c.898G>C (p.Asp300His) c.*694G>C (n.*694G>C) c.616G>C (p.Asp206His) c.*818G>C (n.*818G>C) c.856G>C (p.Asp286His) c.*683G>C (n.*683G>C) | |
8 | g.43122722G>T | CA371122920 | POMK | c.898G>T (p.Asp300Tyr) c.*694G>T (n.*694G>T) c.616G>T (p.Asp206Tyr) c.*818G>T (n.*818G>T) c.856G>T (p.Asp286Tyr) c.*683G>T (n.*683G>T) | |
8 | g.43122723A>C | CA371122921 | POMK | c.899A>C (p.Asp300Ala) c.*695A>C (n.*695A>C) c.617A>C (p.Asp206Ala) c.*819A>C (n.*819A>C) c.857A>C (p.Asp286Ala) c.*684A>C (n.*684A>C) | |
8 | g.43122723A>G | CA371122922 | POMK | c.899A>G (p.Asp300Gly) c.*695A>G (n.*695A>G) c.617A>G (p.Asp206Gly) c.*819A>G (n.*819A>G) c.857A>G (p.Asp286Gly) c.*684A>G (n.*684A>G) | |
8 | g.43122723A>T | CA371122923 | POMK | c.899A>T (p.Asp300Val) c.*695A>T (n.*695A>T) c.617A>T (p.Asp206Val) c.*819A>T (n.*819A>T) c.857A>T (p.Asp286Val) c.*684A>T (n.*684A>T) | |
8 | g.43122724T>A | CA371122924 | POMK | c.900T>A (p.Asp300Glu) c.*696T>A (n.*696T>A) c.618T>A (p.Asp206Glu) c.*820T>A (n.*820T>A) c.858T>A (p.Asp286Glu) c.*685T>A (n.*685T>A) | |
8 | g.43122724T>C | CA460787420 | POMK | c.900T>C (p.Asp300=) c.*696T>C (n.*696T>C) c.618T>C (p.Asp206=) c.*820T>C (n.*820T>C) c.858T>C (p.Asp286=) c.*685T>C (n.*685T>C) | |
8 | g.43122724T>G | CA371122925 | POMK | c.900T>G (p.Asp300Glu) c.*696T>G (n.*696T>G) c.618T>G (p.Asp206Glu) c.*820T>G (n.*820T>G) c.858T>G (p.Asp286Glu) c.*685T>G (n.*685T>G) | |
8 | g.43122725A= | CA1779747899 | POMK | c.901A= (p.Met301=) c.*697A= (n.*697A=) c.619A= (p.Met207=) c.*821A= (n.*821A=) c.859A= (p.Met287=) c.*686A= (n.*686A=) | |
8 | g.43122725A>C | CA371122926 | POMK | c.901A>C (p.Met301Leu) c.*697A>C (n.*697A>C) c.619A>C (p.Met207Leu) c.*821A>C (n.*821A>C) c.859A>C (p.Met287Leu) c.*686A>C (n.*686A>C) | |
8 | g.43122725A>G | CA4736373 | POMK | c.901A>G (p.Met301Val) c.*697A>G (n.*697A>G) c.619A>G (p.Met207Val) c.*821A>G (n.*821A>G) c.859A>G (p.Met287Val) c.*686A>G (n.*686A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43122725A>T | CA371122927 | POMK | c.901A>T (p.Met301Leu) c.*697A>T (n.*697A>T) c.619A>T (p.Met207Leu) c.*821A>T (n.*821A>T) c.859A>T (p.Met287Leu) c.*686A>T (n.*686A>T) | |
8 | g.43122726T>A | CA371122928 | POMK | c.902T>A (p.Met301Lys) c.*698T>A (n.*698T>A) c.620T>A (p.Met207Lys) c.*822T>A (n.*822T>A) c.860T>A (p.Met287Lys) c.*687T>A (n.*687T>A) | |
8 | g.43122726T>C | CA4736374 | POMK | c.902T>C (p.Met301Thr) c.*698T>C (n.*698T>C) c.620T>C (p.Met207Thr) c.*822T>C (n.*822T>C) c.860T>C (p.Met287Thr) c.*687T>C (n.*687T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43122726T>G | CA371122929 | POMK | c.902T>G (p.Met301Arg) c.*698T>G (n.*698T>G) c.620T>G (p.Met207Arg) c.*822T>G (n.*822T>G) c.860T>G (p.Met287Arg) c.*687T>G (n.*687T>G) | |
8 | g.43122726T= | CA1779747904 | POMK | c.902T= (p.Met301=) c.*698T= (n.*698T=) c.620T= (p.Met207=) c.*822T= (n.*822T=) c.860T= (p.Met287=) c.*687T= (n.*687T=) | |
8 | g.43122727G>A | CA371122930 | POMK | c.903G>A (p.Met301Ile) c.*699G>A (n.*699G>A) c.621G>A (p.Met207Ile) c.*823G>A (n.*823G>A) c.861G>A (p.Met287Ile) c.*688G>A (n.*688G>A) | |
8 | g.43122727G>C | CA371122931 | POMK | c.903G>C (p.Met301Ile) c.*699G>C (n.*699G>C) c.621G>C (p.Met207Ile) c.*823G>C (n.*823G>C) c.861G>C (p.Met287Ile) c.*688G>C (n.*688G>C) | |
8 | g.43122727G>T | CA371122932 | POMK | c.903G>T (p.Met301Ile) c.*699G>T (n.*699G>T) c.621G>T (p.Met207Ile) c.*823G>T (n.*823G>T) c.861G>T (p.Met287Ile) c.*688G>T (n.*688G>T) | |
8 | g.43122728G>A | CA371122933 | POMK | c.904G>A (p.Val302Ile) c.*700G>A (n.*700G>A) c.622G>A (p.Val208Ile) c.*824G>A (n.*824G>A) c.862G>A (p.Val288Ile) c.*689G>A (n.*689G>A) | |
8 | g.43122728G>C | CA371122934 | POMK | c.904G>C (p.Val302Leu) c.*700G>C (n.*700G>C) c.622G>C (p.Val208Leu) c.*824G>C (n.*824G>C) c.862G>C (p.Val288Leu) c.*689G>C (n.*689G>C) | |
8 | g.43122728G= | CA1779747906 | POMK | c.904G= (p.Val302=) c.*700G= (n.*700G=) c.622G= (p.Val208=) c.*824G= (n.*824G=) c.862G= (p.Val288=) c.*689G= (n.*689G=) | |
8 | g.43122728G>T | CA371122935 | POMK | c.904G>T (p.Val302Phe) c.*700G>T (n.*700G>T) c.622G>T (p.Val208Phe) c.*824G>T (n.*824G>T) c.862G>T (p.Val288Phe) c.*689G>T (n.*689G>T) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.43122729T>A | CA173960 | POMK | c.905T>A (p.Val302Asp) c.*701T>A (n.*701T>A) c.623T>A (p.Val208Asp) c.*825T>A (n.*825T>A) c.863T>A (p.Val288Asp) c.*690T>A (n.*690T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43122729T>C | CA371122936 | POMK | c.905T>C (p.Val302Ala) c.*701T>C (n.*701T>C) c.623T>C (p.Val208Ala) c.*825T>C (n.*825T>C) c.863T>C (p.Val288Ala) c.*690T>C (n.*690T>C) | COSMIC COSMIC |
8 | g.43122729T>G | CA371122937 | POMK | c.905T>G (p.Val302Gly) c.*701T>G (n.*701T>G) c.623T>G (p.Val208Gly) c.*825T>G (n.*825T>G) c.863T>G (p.Val288Gly) c.*690T>G (n.*690T>G) | |
8 | g.43122729T= | CA1779747909 | POMK | c.905T= (p.Val302=) c.*701T= (n.*701T=) c.623T= (p.Val208=) c.*825T= (n.*825T=) c.863T= (p.Val288=) c.*690T= (n.*690T=) | |
8 | g.43122730C>A | CA460787427 | POMK | c.906C>A (p.Val302=) c.*702C>A (n.*702C>A) c.624C>A (p.Val208=) c.*826C>A (n.*826C>A) c.864C>A (p.Val288=) c.*691C>A (n.*691C>A) | |
8 | g.43122730C= | CA1779747915 | POMK | c.906C= (p.Val302=) c.*702C= (n.*702C=) c.624C= (p.Val208=) c.*826C= (n.*826C=) c.864C= (p.Val288=) c.*691C= (n.*691C=) | |
8 | g.43122730C>G | CA460787428 | POMK | c.906C>G (p.Val302=) c.*702C>G (n.*702C>G) c.624C>G (p.Val208=) c.*826C>G (n.*826C>G) c.864C>G (p.Val288=) c.*691C>G (n.*691C>G) | |
8 | g.43122730C>T | CA460787429 | POMK | c.906C>T (p.Val302=) c.*702C>T (n.*702C>T) c.624C>T (p.Val208=) c.*826C>T (n.*826C>T) c.864C>T (p.Val288=) c.*691C>T (n.*691C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43122731C>A | CA460787430 | POMK | c.907C>A (p.Arg303=) c.*703C>A (n.*703C>A) c.625C>A (p.Arg209=) c.*827C>A (n.*827C>A) c.865C>A (p.Arg289=) c.*692C>A (n.*692C>A) | |
8 | g.43122731C= | CA1779747919 | POMK | c.907C= (p.Arg303=) c.*703C= (n.*703C=) c.625C= (p.Arg209=) c.*827C= (n.*827C=) c.865C= (p.Arg289=) c.*692C= (n.*692C=) | |
8 | g.43122731C>G | CA371122938 | POMK | c.907C>G (p.Arg303Gly) c.*703C>G (n.*703C>G) c.625C>G (p.Arg209Gly) c.*827C>G (n.*827C>G) c.865C>G (p.Arg289Gly) c.*692C>G (n.*692C>G) | |
8 | g.43122731C>T | CA4736375 | POMK | c.907C>T (p.Arg303Ter) c.*703C>T (n.*703C>T) c.625C>T (p.Arg209Ter) c.*827C>T (n.*827C>T) c.865C>T (p.Arg289Ter) c.*692C>T (n.*692C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43122732G>A | CA4736376 | POMK | c.908G>A (p.Arg303Gln) c.*704G>A (n.*704G>A) c.626G>A (p.Arg209Gln) c.*828G>A (n.*828G>A) c.866G>A (p.Arg289Gln) c.*693G>A (n.*693G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43122732G>C | CA371122940 | POMK | c.908G>C (p.Arg303Pro) c.*704G>C (n.*704G>C) c.626G>C (p.Arg209Pro) c.*828G>C (n.*828G>C) c.866G>C (p.Arg289Pro) c.*693G>C (n.*693G>C) | |
8 | g.43122732G= | CA1779747923 | POMK | c.908G= (p.Arg303=) c.*704G= (n.*704G=) c.626G= (p.Arg209=) c.*828G= (n.*828G=) c.866G= (p.Arg289=) c.*693G= (n.*693G=) | |
8 | g.43122732G>T | CA371122939 | POMK | c.908G>T (p.Arg303Leu) c.*704G>T (n.*704G>T) c.626G>T (p.Arg209Leu) c.*828G>T (n.*828G>T) c.866G>T (p.Arg289Leu) c.*693G>T (n.*693G>T) | |
8 | g.43122733A>C | CA460787432 | POMK | c.909A>C (p.Arg303=) c.*705A>C (n.*705A>C) c.627A>C (p.Arg209=) c.*829A>C (n.*829A>C) c.867A>C (p.Arg289=) c.*694A>C (n.*694A>C) | |
8 | g.43122733A>G | CA460787433 | POMK | c.909A>G (p.Arg303=) c.*705A>G (n.*705A>G) c.627A>G (p.Arg209=) c.*829A>G (n.*829A>G) c.867A>G (p.Arg289=) c.*694A>G (n.*694A>G) | |
8 | g.43122733A>T | CA460787434 | POMK | c.909A>T (p.Arg303=) c.*705A>T (n.*705A>T) c.627A>T (p.Arg209=) c.*829A>T (n.*829A>T) c.867A>T (p.Arg289=) c.*694A>T (n.*694A>T) | |
8 | g.43122734T>A | CA371122941 | POMK | c.910T>A (p.Phe304Ile) c.*706T>A (n.*706T>A) c.628T>A (p.Phe210Ile) c.*830T>A (n.*830T>A) c.868T>A (p.Phe290Ile) c.*695T>A (n.*695T>A) | |
8 | g.43122734T>C | CA4736377 | POMK | c.910T>C (p.Phe304Leu) c.*706T>C (n.*706T>C) c.628T>C (p.Phe210Leu) c.*830T>C (n.*830T>C) c.868T>C (p.Phe290Leu) c.*695T>C (n.*695T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43122734T>G | CA371122942 | POMK | c.910T>G (p.Phe304Val) c.*706T>G (n.*706T>G) c.628T>G (p.Phe210Val) c.*830T>G (n.*830T>G) c.868T>G (p.Phe290Val) c.*695T>G (n.*695T>G) | |
8 | g.43122734T= | CA1779747931 | POMK | c.910T= (p.Phe304=) c.*706T= (n.*706T=) c.628T= (p.Phe210=) c.*830T= (n.*830T=) c.868T= (p.Phe290=) c.*695T= (n.*695T=) | |
8 | g.43122735T>A | CA371122943 | POMK | c.911T>A (p.Phe304Tyr) c.*707T>A (n.*707T>A) c.629T>A (p.Phe210Tyr) c.*831T>A (n.*831T>A) c.869T>A (p.Phe290Tyr) c.*696T>A (n.*696T>A) | |
8 | g.43122735T>C | CA371122945 | POMK | c.911T>C (p.Phe304Ser) c.*707T>C (n.*707T>C) c.629T>C (p.Phe210Ser) c.*831T>C (n.*831T>C) c.869T>C (p.Phe290Ser) c.*696T>C (n.*696T>C) | |
8 | g.43122735T>G | CA371122944 | POMK | c.911T>G (p.Phe304Cys) c.*707T>G (n.*707T>G) c.629T>G (p.Phe210Cys) c.*831T>G (n.*831T>G) c.869T>G (p.Phe290Cys) c.*696T>G (n.*696T>G) | |
8 | g.43122736C>A | CA371122946 | POMK | c.912C>A (p.Phe304Leu) c.*708C>A (n.*708C>A) c.630C>A (p.Phe210Leu) c.*832C>A (n.*832C>A) c.870C>A (p.Phe290Leu) c.*697C>A (n.*697C>A) | |
8 | g.43122736C>G | CA371122947 | POMK | c.912C>G (p.Phe304Leu) c.*708C>G (n.*708C>G) c.630C>G (p.Phe210Leu) c.*832C>G (n.*832C>G) c.870C>G (p.Phe290Leu) c.*697C>G (n.*697C>G) | |
8 | g.43122736C>T | CA460787439 | POMK | c.912C>T (p.Phe304=) c.*708C>T (n.*708C>T) c.630C>T (p.Phe210=) c.*832C>T (n.*832C>T) c.870C>T (p.Phe290=) c.*697C>T (n.*697C>T) | gnomAD v4 |
8 | g.43122737C>A | CA371122948 | POMK | c.913C>A (p.His305Asn) c.*709C>A (n.*709C>A) c.631C>A (p.His211Asn) c.*833C>A (n.*833C>A) c.871C>A (p.His291Asn) c.*698C>A (n.*698C>A) | |
8 | g.43122737C>G | CA371122949 | POMK | c.913C>G (p.His305Asp) c.*709C>G (n.*709C>G) c.631C>G (p.His211Asp) c.*833C>G (n.*833C>G) c.871C>G (p.His291Asp) c.*698C>G (n.*698C>G) | |
8 | g.43122737C>T | CA371122950 | POMK | c.913C>T (p.His305Tyr) c.*709C>T (n.*709C>T) c.631C>T (p.His211Tyr) c.*833C>T (n.*833C>T) c.871C>T (p.His291Tyr) c.*698C>T (n.*698C>T) | |
8 | g.43122738A= | CA1779747939 | POMK | c.914A= (p.His305=) c.*710A= (n.*710A=) c.632A= (p.His211=) c.*834A= (n.*834A=) c.872A= (p.His291=) c.*699A= (n.*699A=) | |
8 | g.43122738A>C | CA371122951 | POMK | c.914A>C (p.His305Pro) c.*710A>C (n.*710A>C) c.632A>C (p.His211Pro) c.*834A>C (n.*834A>C) c.872A>C (p.His291Pro) c.*699A>C (n.*699A>C) | |
8 | g.43122738A>G | CA4736378 | POMK | c.914A>G (p.His305Arg) c.*710A>G (n.*710A>G) c.632A>G (p.His211Arg) c.*834A>G (n.*834A>G) c.872A>G (p.His291Arg) c.*699A>G (n.*699A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43122738A>T | CA371122952 | POMK | c.914A>T (p.His305Leu) c.*710A>T (n.*710A>T) c.632A>T (p.His211Leu) c.*834A>T (n.*834A>T) c.872A>T (p.His291Leu) c.*699A>T (n.*699A>T) | |
8 | g.43122739T>A | CA371122953 | POMK | c.915T>A (p.His305Gln) c.*711T>A (n.*711T>A) c.633T>A (p.His211Gln) c.*835T>A (n.*835T>A) c.873T>A (p.His291Gln) c.*700T>A (n.*700T>A) | |
8 | g.43122739T>C | CA460787441 | POMK | c.915T>C (p.His305=) c.*711T>C (n.*711T>C) c.633T>C (p.His211=) c.*835T>C (n.*835T>C) c.873T>C (p.His291=) c.*700T>C (n.*700T>C) | |
8 | g.43122739T>G | CA371122954 | POMK | c.915T>G (p.His305Gln) c.*711T>G (n.*711T>G) c.633T>G (p.His211Gln) c.*835T>G (n.*835T>G) c.873T>G (p.His291Gln) c.*700T>G (n.*700T>G) | |
8 | g.43122741dup | CA10603099 | POMK | c.917dup (p.Leu306PhefsTer3) c.*713dup (n.*713dup) c.635dup (p.Leu212PhefsTer3) c.*837dup (n.*837dup) c.875dup (p.Leu292PhefsTer3) c.*702dup (n.*702dup) | ClinVar dbSNP |
8 | g.43122740T>A | CA371122955 | POMK | c.916T>A (p.Leu306Met) c.*712T>A (n.*712T>A) c.634T>A (p.Leu212Met) c.*836T>A (n.*836T>A) c.874T>A (p.Leu292Met) c.*701T>A (n.*701T>A) | |
8 | g.43122740T>C | CA460787442 | POMK | c.916T>C (p.Leu306=) c.*712T>C (n.*712T>C) c.634T>C (p.Leu212=) c.*836T>C (n.*836T>C) c.874T>C (p.Leu292=) c.*701T>C (n.*701T>C) | |
8 | g.43122740T>G | CA371122956 | POMK | c.916T>G (p.Leu306Val) c.*712T>G (n.*712T>G) c.634T>G (p.Leu212Val) c.*836T>G (n.*836T>G) c.874T>G (p.Leu292Val) c.*701T>G (n.*701T>G) | |
8 | g.43122741T>A | CA371122959 | POMK | c.917T>A (p.Leu306Ter) c.*713T>A (n.*713T>A) c.635T>A (p.Leu212Ter) c.*837T>A (n.*837T>A) c.875T>A (p.Leu292Ter) c.*702T>A (n.*702T>A) | |
8 | g.43122741T>C | CA371122958 | POMK | c.917T>C (p.Leu306Ser) c.*713T>C (n.*713T>C) c.635T>C (p.Leu212Ser) c.*837T>C (n.*837T>C) c.875T>C (p.Leu292Ser) c.*702T>C (n.*702T>C) | |
8 | g.43122741T>G | CA371122957 | POMK | c.917T>G (p.Leu306Trp) c.*713T>G (n.*713T>G) c.635T>G (p.Leu212Trp) c.*837T>G (n.*837T>G) c.875T>G (p.Leu292Trp) c.*702T>G (n.*702T>G) | |
8 | g.43122742G>A | CA460787447 | POMK | c.918G>A (p.Leu306=) c.*714G>A (n.*714G>A) c.636G>A (p.Leu212=) c.*838G>A (n.*838G>A) c.876G>A (p.Leu292=) c.*703G>A (n.*703G>A) | |
8 | g.43122742G>C | CA371122960 | POMK | c.918G>C (p.Leu306Phe) c.*714G>C (n.*714G>C) c.636G>C (p.Leu212Phe) c.*838G>C (n.*838G>C) c.876G>C (p.Leu292Phe) c.*703G>C (n.*703G>C) | |
8 | g.43122742G>T | CA371122961 | POMK | c.918G>T (p.Leu306Phe) c.*714G>T (n.*714G>T) c.636G>T (p.Leu212Phe) c.*838G>T (n.*838G>T) c.876G>T (p.Leu292Phe) c.*703G>T (n.*703G>T) | |
8 | g.43122743T>A | CA371122962 | POMK | c.919T>A (p.Phe307Ile) c.*715T>A (n.*715T>A) c.637T>A (p.Phe213Ile) c.*839T>A (n.*839T>A) c.877T>A (p.Phe293Ile) c.*704T>A (n.*704T>A) | |
8 | g.43122743T>C | CA176080751 | POMK | c.919T>C (p.Phe307Leu) c.*715T>C (n.*715T>C) c.637T>C (p.Phe213Leu) c.*839T>C (n.*839T>C) c.877T>C (p.Phe293Leu) c.*704T>C (n.*704T>C) | dbSNP |
8 | g.43122743T>G | CA371122963 | POMK | c.919T>G (p.Phe307Val) c.*715T>G (n.*715T>G) c.637T>G (p.Phe213Val) c.*839T>G (n.*839T>G) c.877T>G (p.Phe293Val) c.*704T>G (n.*704T>G) | |
8 | g.43122743T= | CA1779747950 | POMK | c.919T= (p.Phe307=) c.*715T= (n.*715T=) c.637T= (p.Phe213=) c.*839T= (n.*839T=) c.877T= (p.Phe293=) c.*704T= (n.*704T=) | |
8 | g.43122744T>A | CA371122964 | POMK | c.920T>A (p.Phe307Tyr) c.*716T>A (n.*716T>A) c.638T>A (p.Phe213Tyr) c.*840T>A (n.*840T>A) c.878T>A (p.Phe293Tyr) c.*705T>A (n.*705T>A) | |
8 | g.43122744T>C | CA371122965 | POMK | c.920T>C (p.Phe307Ser) c.*716T>C (n.*716T>C) c.638T>C (p.Phe213Ser) c.*840T>C (n.*840T>C) c.878T>C (p.Phe293Ser) c.*705T>C (n.*705T>C) | gnomAD v4 |
8 | g.43122744T>G | CA371122966 | POMK | c.920T>G (p.Phe307Cys) c.*716T>G (n.*716T>G) c.638T>G (p.Phe213Cys) c.*840T>G (n.*840T>G) c.878T>G (p.Phe293Cys) c.*705T>G (n.*705T>G) | |
8 | g.43122745T>A | CA371122967 | POMK | c.921T>A (p.Phe307Leu) c.*717T>A (n.*717T>A) c.639T>A (p.Phe213Leu) c.*841T>A (n.*841T>A) c.879T>A (p.Phe293Leu) c.*706T>A (n.*706T>A) | |
8 | g.43122745T>C | CA460787449 | POMK | c.921T>C (p.Phe307=) c.*717T>C (n.*717T>C) c.639T>C (p.Phe213=) c.*841T>C (n.*841T>C) c.879T>C (p.Phe293=) c.*706T>C (n.*706T>C) | |
8 | g.43122745T>G | CA371122968 | POMK | c.921T>G (p.Phe307Leu) c.*717T>G (n.*717T>G) c.639T>G (p.Phe213Leu) c.*841T>G (n.*841T>G) c.879T>G (p.Phe293Leu) c.*706T>G (n.*706T>G) | |
8 | g.43122746G>A | CA371122969 | POMK | c.922G>A (p.Asp308Asn) c.*718G>A (n.*718G>A) c.640G>A (p.Asp214Asn) c.*842G>A (n.*842G>A) c.880G>A (p.Asp294Asn) c.*707G>A (n.*707G>A) | |
8 | g.43122746G>C | CA371122970 | POMK | c.922G>C (p.Asp308His) c.*718G>C (n.*718G>C) c.640G>C (p.Asp214His) c.*842G>C (n.*842G>C) c.880G>C (p.Asp294His) c.*707G>C (n.*707G>C) | |
8 | g.43122746G>T | CA371122971 | POMK | c.922G>T (p.Asp308Tyr) c.*718G>T (n.*718G>T) c.640G>T (p.Asp214Tyr) c.*842G>T (n.*842G>T) c.880G>T (p.Asp294Tyr) c.*707G>T (n.*707G>T) | gnomAD v4 |
8 | g.43122747A>C | CA371122973 | POMK | c.923A>C (p.Asp308Ala) c.*719A>C (n.*719A>C) c.641A>C (p.Asp214Ala) c.*843A>C (n.*843A>C) c.881A>C (p.Asp294Ala) c.*708A>C (n.*708A>C) | |
8 | g.43122747A>G | CA371122974 | POMK | c.923A>G (p.Asp308Gly) c.*719A>G (n.*719A>G) c.641A>G (p.Asp214Gly) c.*843A>G (n.*843A>G) c.881A>G (p.Asp294Gly) c.*708A>G (n.*708A>G) | gnomAD v4 |
8 | g.43122747A>T | CA371122972 | POMK | c.923A>T (p.Asp308Val) c.*719A>T (n.*719A>T) c.641A>T (p.Asp214Val) c.*843A>T (n.*843A>T) c.881A>T (p.Asp294Val) c.*708A>T (n.*708A>T) | |
8 | g.43122748T>A | CA371122975 | POMK | c.924T>A (p.Asp308Glu) c.*720T>A (n.*720T>A) c.642T>A (p.Asp214Glu) c.*844T>A (n.*844T>A) c.882T>A (p.Asp294Glu) c.*709T>A (n.*709T>A) | |
8 | g.43122748T>C | CA460787517 | POMK | c.924T>C (p.Asp308=) c.*720T>C (n.*720T>C) c.642T>C (p.Asp214=) c.*844T>C (n.*844T>C) c.882T>C (p.Asp294=) c.*709T>C (n.*709T>C) | |
8 | g.43122748T>G | CA371122976 | POMK | c.924T>G (p.Asp308Glu) c.*720T>G (n.*720T>G) c.642T>G (p.Asp214Glu) c.*844T>G (n.*844T>G) c.882T>G (p.Asp294Glu) c.*709T>G (n.*709T>G) | |
8 | g.43122749A>C | CA371122977 | POMK | c.925A>C (p.Ile309Leu) c.*721A>C (n.*721A>C) c.643A>C (p.Ile215Leu) c.*845A>C (n.*845A>C) c.883A>C (p.Ile295Leu) c.*710A>C (n.*710A>C) | |
8 | g.43122749A>G | CA371122978 | POMK | c.925A>G (p.Ile309Val) c.*721A>G (n.*721A>G) c.643A>G (p.Ile215Val) c.*845A>G (n.*845A>G) c.883A>G (p.Ile295Val) c.*710A>G (n.*710A>G) | |
8 | g.43122749A>T | CA371122979 | POMK | c.925A>T (p.Ile309Phe) c.*721A>T (n.*721A>T) c.643A>T (p.Ile215Phe) c.*845A>T (n.*845A>T) c.883A>T (p.Ile295Phe) c.*710A>T (n.*710A>T) | |
8 | g.43122750T>A | CA371122980 | POMK | c.926T>A (p.Ile309Asn) c.*722T>A (n.*722T>A) c.644T>A (p.Ile215Asn) c.*846T>A (n.*846T>A) c.884T>A (p.Ile295Asn) c.*711T>A (n.*711T>A) | gnomAD v4 |
8 | g.43122750T>C | CA4736379 | POMK | c.926T>C (p.Ile309Thr) c.*722T>C (n.*722T>C) c.644T>C (p.Ile215Thr) c.*846T>C (n.*846T>C) c.884T>C (p.Ile295Thr) c.*711T>C (n.*711T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43122750T>G | CA371122981 | POMK | c.926T>G (p.Ile309Ser) c.*722T>G (n.*722T>G) c.644T>G (p.Ile215Ser) c.*846T>G (n.*846T>G) c.884T>G (p.Ile295Ser) c.*711T>G (n.*711T>G) | |
8 | g.43122750T= | CA1779748162 | POMK | c.926T= (p.Ile309=) c.*722T= (n.*722T=) c.644T= (p.Ile215=) c.*846T= (n.*846T=) c.884T= (p.Ile295=) c.*711T= (n.*711T=) | |
8 | g.43122751T>A | CA460787518 | POMK | c.927T>A (p.Ile309=) c.*723T>A (n.*723T>A) c.645T>A (p.Ile215=) c.*847T>A (n.*847T>A) c.885T>A (p.Ile295=) c.*712T>A (n.*712T>A) | |
8 | g.43122751T>C | CA460787519 | POMK | c.927T>C (p.Ile309=) c.*723T>C (n.*723T>C) c.645T>C (p.Ile215=) c.*847T>C (n.*847T>C) c.885T>C (p.Ile295=) c.*712T>C (n.*712T>C) | |
8 | g.43122751T>G | CA371122982 | POMK | c.927T>G (p.Ile309Met) c.*723T>G (n.*723T>G) c.645T>G (p.Ile215Met) c.*847T>G (n.*847T>G) c.885T>G (p.Ile295Met) c.*712T>G (n.*712T>G) | |
8 | g.43122752C>A | CA371122983 | POMK | c.928C>A (p.His310Asn) c.*724C>A (n.*724C>A) c.646C>A (p.His216Asn) c.*848C>A (n.*848C>A) c.886C>A (p.His296Asn) c.*713C>A (n.*713C>A) | |
8 | g.43122752C>G | CA371122984 | POMK | c.928C>G (p.His310Asp) c.*724C>G (n.*724C>G) c.646C>G (p.His216Asp) c.*848C>G (n.*848C>G) c.886C>G (p.His296Asp) c.*713C>G (n.*713C>G) | |
8 | g.43122752C>T | CA371122985 | POMK | c.928C>T (p.His310Tyr) c.*724C>T (n.*724C>T) c.646C>T (p.His216Tyr) c.*848C>T (n.*848C>T) c.886C>T (p.His296Tyr) c.*713C>T (n.*713C>T) | |
8 | g.43122753A>C | CA371122986 | POMK | c.929A>C (p.His310Pro) c.*725A>C (n.*725A>C) c.647A>C (p.His216Pro) c.*849A>C (n.*849A>C) c.887A>C (p.His296Pro) c.*714A>C (n.*714A>C) | |
8 | g.43122753A>G | CA371122988 | POMK | c.929A>G (p.His310Arg) c.*725A>G (n.*725A>G) c.647A>G (p.His216Arg) c.*849A>G (n.*849A>G) c.887A>G (p.His296Arg) c.*714A>G (n.*714A>G) | |
8 | g.43122753A>T | CA371122987 | POMK | c.929A>T (p.His310Leu) c.*725A>T (n.*725A>T) c.647A>T (p.His216Leu) c.*849A>T (n.*849A>T) c.887A>T (p.His296Leu) c.*714A>T (n.*714A>T) | |
8 | g.43122754C>A | CA371122989 | POMK | c.930C>A (p.His310Gln) c.*726C>A (n.*726C>A) c.648C>A (p.His216Gln) c.*850C>A (n.*850C>A) c.888C>A (p.His296Gln) c.*715C>A (n.*715C>A) | |
8 | g.43122754C>G | CA371122990 | POMK | c.930C>G (p.His310Gln) c.*726C>G (n.*726C>G) c.648C>G (p.His216Gln) c.*850C>G (n.*850C>G) c.888C>G (p.His296Gln) c.*715C>G (n.*715C>G) | |
8 | g.43122754C>T | CA460787523 | POMK | c.930C>T (p.His310=) c.*726C>T (n.*726C>T) c.648C>T (p.His216=) c.*850C>T (n.*850C>T) c.888C>T (p.His296=) c.*715C>T (n.*715C>T) | |
8 | g.43122755A>C | CA371122991 | POMK | c.931A>C (p.Lys311Gln) c.*727A>C (n.*727A>C) c.649A>C (p.Lys217Gln) c.*851A>C (n.*851A>C) c.889A>C (p.Lys297Gln) c.*716A>C (n.*716A>C) | |
8 | g.43122755A>G | CA371122992 | POMK | c.931A>G (p.Lys311Glu) c.*727A>G (n.*727A>G) c.649A>G (p.Lys217Glu) c.*851A>G (n.*851A>G) c.889A>G (p.Lys297Glu) c.*716A>G (n.*716A>G) | |
8 | g.43122755A>T | CA371122993 | POMK | c.931A>T (p.Lys311Ter) c.*727A>T (n.*727A>T) c.649A>T (p.Lys217Ter) c.*851A>T (n.*851A>T) c.889A>T (p.Lys297Ter) c.*716A>T (n.*716A>T) | |
8 | g.43122756A>C | CA371122994 | POMK | c.932A>C (p.Lys311Thr) c.*728A>C (n.*728A>C) c.650A>C (p.Lys217Thr) c.*852A>C (n.*852A>C) c.890A>C (p.Lys297Thr) c.*717A>C (n.*717A>C) | |
8 | g.43122756A>G | CA371122995 | POMK | c.932A>G (p.Lys311Arg) c.*728A>G (n.*728A>G) c.650A>G (p.Lys217Arg) c.*852A>G (n.*852A>G) c.890A>G (p.Lys297Arg) c.*717A>G (n.*717A>G) | |
8 | g.43122756A>T | CA371122996 | POMK | c.932A>T (p.Lys311Ile) c.*728A>T (n.*728A>T) c.650A>T (p.Lys217Ile) c.*852A>T (n.*852A>T) c.890A>T (p.Lys297Ile) c.*717A>T (n.*717A>T) | |
8 | g.43122757A>C | CA371122997 | POMK | c.933A>C (p.Lys311Asn) c.*729A>C (n.*729A>C) c.651A>C (p.Lys217Asn) c.*853A>C (n.*853A>C) c.891A>C (p.Lys297Asn) c.*718A>C (n.*718A>C) | |
8 | g.43122757A>G | CA460787524 | POMK | c.933A>G (p.Lys311=) c.*729A>G (n.*729A>G) c.651A>G (p.Lys217=) c.*853A>G (n.*853A>G) c.891A>G (p.Lys297=) c.*718A>G (n.*718A>G) | |
8 | g.43122757A>T | CA371122998 | POMK | c.933A>T (p.Lys311Asn) c.*729A>T (n.*729A>T) c.651A>T (p.Lys217Asn) c.*853A>T (n.*853A>T) c.891A>T (p.Lys297Asn) c.*718A>T (n.*718A>T) | |
8 | g.43122758G>A | CA371123000 | POMK | c.934G>A (p.Ala312Thr) c.*730G>A (n.*730G>A) c.652G>A (p.Ala218Thr) c.*854G>A (n.*854G>A) c.892G>A (p.Ala298Thr) c.*719G>A (n.*719G>A) | |
8 | g.43122758G>C | CA371123001 | POMK | c.934G>C (p.Ala312Pro) c.*730G>C (n.*730G>C) c.652G>C (p.Ala218Pro) c.*854G>C (n.*854G>C) c.892G>C (p.Ala298Pro) c.*719G>C (n.*719G>C) | |
8 | g.43122758G>T | CA371122999 | POMK | c.934G>T (p.Ala312Ser) c.*730G>T (n.*730G>T) c.652G>T (p.Ala218Ser) c.*854G>T (n.*854G>T) c.892G>T (p.Ala298Ser) c.*719G>T (n.*719G>T) | |
8 | g.43122759C>A | CA371123003 | POMK | c.935C>A (p.Ala312Glu) c.*731C>A (n.*731C>A) c.653C>A (p.Ala218Glu) c.*855C>A (n.*855C>A) c.893C>A (p.Ala298Glu) c.*720C>A (n.*720C>A) | |
8 | g.43122759C= | CA1779748169 | POMK | c.935C= (p.Ala312=) c.*731C= (n.*731C=) c.653C= (p.Ala218=) c.*855C= (n.*855C=) c.893C= (p.Ala298=) c.*720C= (n.*720C=) | |
8 | g.43122759C>G | CA371123002 | POMK | c.935C>G (p.Ala312Gly) c.*731C>G (n.*731C>G) c.653C>G (p.Ala218Gly) c.*855C>G (n.*855C>G) c.893C>G (p.Ala298Gly) c.*720C>G (n.*720C>G) | |
8 | g.43122759C>T | CA176080759 | POMK | c.935C>T (p.Ala312Val) c.*731C>T (n.*731C>T) c.653C>T (p.Ala218Val) c.*855C>T (n.*855C>T) c.893C>T (p.Ala298Val) c.*720C>T (n.*720C>T) | dbSNP |
8 | g.43122760A= | CA1779748174 | POMK | c.936A= (p.Ala312=) c.*732A= (n.*732A=) c.654A= (p.Ala218=) c.*856A= (n.*856A=) c.894A= (p.Ala298=) c.*721A= (n.*721A=) | |
8 | g.43122760A>C | CA460787529 | POMK | c.936A>C (p.Ala312=) c.*732A>C (n.*732A>C) c.654A>C (p.Ala218=) c.*856A>C (n.*856A>C) c.894A>C (p.Ala298=) c.*721A>C (n.*721A>C) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.43122760A>G | CA4736380 | POMK | c.936A>G (p.Ala312=) c.*732A>G (n.*732A>G) c.654A>G (p.Ala218=) c.*856A>G (n.*856A>G) c.894A>G (p.Ala298=) c.*721A>G (n.*721A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.43122760A>T | CA460787530 | POMK | c.936A>T (p.Ala312=) c.*732A>T (n.*732A>T) c.654A>T (p.Ala218=) c.*856A>T (n.*856A>T) c.894A>T (p.Ala298=) c.*721A>T (n.*721A>T) | |
8 | g.43122761T>A | CA371123004 | POMK | c.937T>A (p.Cys313Ser) c.*733T>A (n.*733T>A) c.655T>A (p.Cys219Ser) c.*857T>A (n.*857T>A) c.895T>A (p.Cys299Ser) c.*722T>A (n.*722T>A) | |
8 | g.43122761T>C | CA371123005 | POMK | c.937T>C (p.Cys313Arg) c.*733T>C (n.*733T>C) c.655T>C (p.Cys219Arg) c.*857T>C (n.*857T>C) c.895T>C (p.Cys299Arg) c.*722T>C (n.*722T>C) | |
8 | g.43122761T>G | CA371123006 | POMK | c.937T>G (p.Cys313Gly) c.*733T>G (n.*733T>G) c.655T>G (p.Cys219Gly) c.*857T>G (n.*857T>G) c.895T>G (p.Cys299Gly) c.*722T>G (n.*722T>G) | |
8 | g.43122762G>A | CA371123009 | POMK | c.938G>A (p.Cys313Tyr) c.*734G>A (n.*734G>A) c.656G>A (p.Cys219Tyr) c.*858G>A (n.*858G>A) c.896G>A (p.Cys299Tyr) c.*723G>A (n.*723G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.43122762G>C | CA371123007 | POMK | c.938G>C (p.Cys313Ser) c.*734G>C (n.*734G>C) c.656G>C (p.Cys219Ser) c.*858G>C (n.*858G>C) c.896G>C (p.Cys299Ser) c.*723G>C (n.*723G>C) | |
8 | g.43122762G= | CA1779748177 | POMK | c.938G= (p.Cys313=) c.*734G= (n.*734G=) c.656G= (p.Cys219=) c.*858G= (n.*858G=) c.896G= (p.Cys299=) c.*723G= (n.*723G=) | |
8 | g.43122762G>T | CA371123008 | POMK | c.938G>T (p.Cys313Phe) c.*734G>T (n.*734G>T) c.656G>T (p.Cys219Phe) c.*858G>T (n.*858G>T) c.896G>T (p.Cys299Phe) c.*723G>T (n.*723G>T) | |
8 | g.43122763C>A | CA371123010 | POMK | c.939C>A (p.Cys313Ter) c.*735C>A (n.*735C>A) c.657C>A (p.Cys219Ter) c.*859C>A (n.*859C>A) c.897C>A (p.Cys299Ter) c.*724C>A (n.*724C>A) | |
8 | g.43122763C>G | CA371123011 | POMK | c.939C>G (p.Cys313Trp) c.*735C>G (n.*735C>G) c.657C>G (p.Cys219Trp) c.*859C>G (n.*859C>G) c.897C>G (p.Cys299Trp) c.*724C>G (n.*724C>G) | |
8 | g.43122763C>T | CA460787532 | POMK | c.939C>T (p.Cys313=) c.*735C>T (n.*735C>T) c.657C>T (p.Cys219=) c.*859C>T (n.*859C>T) c.897C>T (p.Cys299=) c.*724C>T (n.*724C>T) | |
8 | g.43122764A= | CA1779748181 | POMK | c.940A= (p.Lys314=) c.*736A= (n.*736A=) c.658A= (p.Lys220=) c.*860A= (n.*860A=) c.898A= (p.Lys300=) c.*725A= (n.*725A=) | |
8 | g.43122764A>C | CA371123012 | POMK | c.940A>C (p.Lys314Gln) c.*736A>C (n.*736A>C) c.658A>C (p.Lys220Gln) c.*860A>C (n.*860A>C) c.898A>C (p.Lys300Gln) c.*725A>C (n.*725A>C) | |
8 | g.43122764A>G | CA371123013 | POMK | c.940A>G (p.Lys314Glu) c.*736A>G (n.*736A>G) c.658A>G (p.Lys220Glu) c.*860A>G (n.*860A>G) c.898A>G (p.Lys300Glu) c.*725A>G (n.*725A>G) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.43122764A>T | CA371123014 | POMK | c.940A>T (p.Lys314Ter) c.*736A>T (n.*736A>T) c.658A>T (p.Lys220Ter) c.*860A>T (n.*860A>T) c.898A>T (p.Lys300Ter) c.*725A>T (n.*725A>T) | |
8 | g.43122765A>C | CA371123015 | POMK | c.941A>C (p.Lys314Thr) c.*737A>C (n.*737A>C) c.659A>C (p.Lys220Thr) c.*861A>C (n.*861A>C) c.899A>C (p.Lys300Thr) c.*726A>C (n.*726A>C) | |
8 | g.43122765A>G | CA371123017 | POMK | c.941A>G (p.Lys314Arg) c.*737A>G (n.*737A>G) c.659A>G (p.Lys220Arg) c.*861A>G (n.*861A>G) c.899A>G (p.Lys300Arg) c.*726A>G (n.*726A>G) | |
8 | g.43122765A>T | CA371123016 | POMK | c.941A>T (p.Lys314Met) c.*737A>T (n.*737A>T) c.659A>T (p.Lys220Met) c.*861A>T (n.*861A>T) c.899A>T (p.Lys300Met) c.*726A>T (n.*726A>T) | |
8 | g.43122766G>A | CA4736381 | POMK | c.942G>A (p.Lys314=) c.*738G>A (n.*738G>A) c.660G>A (p.Lys220=) c.*862G>A (n.*862G>A) c.900G>A (p.Lys300=) c.*727G>A (n.*727G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43122766G>C | CA371123018 | POMK | c.942G>C (p.Lys314Asn) c.*738G>C (n.*738G>C) c.660G>C (p.Lys220Asn) c.*862G>C (n.*862G>C) c.900G>C (p.Lys300Asn) c.*727G>C (n.*727G>C) | |
8 | g.43122766G= | CA1779748184 | POMK | c.942G= (p.Lys314=) c.*738G= (n.*738G=) c.660G= (p.Lys220=) c.*862G= (n.*862G=) c.900G= (p.Lys300=) c.*727G= (n.*727G=) | |
8 | g.43122766G>T | CA371123019 | POMK | c.942G>T (p.Lys314Asn) c.*738G>T (n.*738G>T) c.660G>T (p.Lys220Asn) c.*862G>T (n.*862G>T) c.900G>T (p.Lys300Asn) c.*727G>T (n.*727G>T) | |
8 | g.43122767A>C | CA371123020 | POMK | c.943A>C (p.Ser315Arg) c.*739A>C (n.*739A>C) c.661A>C (p.Ser221Arg) c.*863A>C (n.*863A>C) c.901A>C (p.Ser301Arg) c.*728A>C (n.*728A>C) | |
8 | g.43122767A>G | CA371123021 | POMK | c.943A>G (p.Ser315Gly) c.*739A>G (n.*739A>G) c.661A>G (p.Ser221Gly) c.*863A>G (n.*863A>G) c.901A>G (p.Ser301Gly) c.*728A>G (n.*728A>G) | gnomAD v4 |
8 | g.43122767A>T | CA371123022 | POMK | c.943A>T (p.Ser315Cys) c.*739A>T (n.*739A>T) c.661A>T (p.Ser221Cys) c.*863A>T (n.*863A>T) c.901A>T (p.Ser301Cys) c.*728A>T (n.*728A>T) | gnomAD v4 |
8 | g.43122768G>A | CA371123023 | POMK | c.944G>A (p.Ser315Asn) c.*740G>A (n.*740G>A) c.662G>A (p.Ser221Asn) c.*864G>A (n.*864G>A) c.902G>A (p.Ser301Asn) c.*729G>A (n.*729G>A) | dbSNP gnomAD v4 |
8 | g.43122768G>C | CA371123024 | POMK | c.944G>C (p.Ser315Thr) c.*740G>C (n.*740G>C) c.662G>C (p.Ser221Thr) c.*864G>C (n.*864G>C) c.902G>C (p.Ser301Thr) c.*729G>C (n.*729G>C) | |
8 | g.43122768G= | CA1779748188 | POMK | c.944G= (p.Ser315=) c.*740G= (n.*740G=) c.662G= (p.Ser221=) c.*864G= (n.*864G=) c.902G= (p.Ser301=) c.*729G= (n.*729G=) | |
8 | g.43122768G>T | CA371123025 | POMK | c.944G>T (p.Ser315Ile) c.*740G>T (n.*740G>T) c.662G>T (p.Ser221Ile) c.*864G>T (n.*864G>T) c.902G>T (p.Ser301Ile) c.*729G>T (n.*729G>T) | |
8 | g.43122769C>A | CA371123026 | POMK | c.945C>A (p.Ser315Arg) c.*741C>A (n.*741C>A) c.663C>A (p.Ser221Arg) c.*865C>A (n.*865C>A) c.903C>A (p.Ser301Arg) c.*730C>A (n.*730C>A) | |
8 | g.43122769C= | CA1779748190 | POMK | c.945C= (p.Ser315=) c.*741C= (n.*741C=) c.663C= (p.Ser221=) c.*865C= (n.*865C=) c.903C= (p.Ser301=) c.*730C= (n.*730C=) | |
8 | g.43122769C>G | CA371123027 | POMK | c.945C>G (p.Ser315Arg) c.*741C>G (n.*741C>G) c.663C>G (p.Ser221Arg) c.*865C>G (n.*865C>G) c.903C>G (p.Ser301Arg) c.*730C>G (n.*730C>G) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.43122769C>T | CA460787534 | POMK | c.945C>T (p.Ser315=) c.*741C>T (n.*741C>T) c.663C>T (p.Ser221=) c.*865C>T (n.*865C>T) c.903C>T (p.Ser301=) c.*730C>T (n.*730C>T) | |
8 | g.43122770C>A | CA371123030 | POMK | c.946C>A (p.Gln316Lys) c.*742C>A (n.*742C>A) c.664C>A (p.Gln222Lys) c.*866C>A (n.*866C>A) c.904C>A (p.Gln302Lys) c.*731C>A (n.*731C>A) | |
8 | g.43122770C>G | CA371123029 | POMK | c.946C>G (p.Gln316Glu) c.*742C>G (n.*742C>G) c.664C>G (p.Gln222Glu) c.*866C>G (n.*866C>G) c.904C>G (p.Gln302Glu) c.*731C>G (n.*731C>G) | |
8 | g.43122770C>T | CA371123028 | POMK | c.946C>T (p.Gln316Ter) c.*742C>T (n.*742C>T) c.664C>T (p.Gln222Ter) c.*866C>T (n.*866C>T) c.904C>T (p.Gln302Ter) c.*731C>T (n.*731C>T) | gnomAD v4 |
8 | g.43122771A>C | CA371123031 | POMK | c.947A>C (p.Gln316Pro) c.*743A>C (n.*743A>C) c.665A>C (p.Gln222Pro) c.*867A>C (n.*867A>C) c.905A>C (p.Gln302Pro) c.*732A>C (n.*732A>C) | |
8 | g.43122771A>G | CA371123032 | POMK | c.947A>G (p.Gln316Arg) c.*743A>G (n.*743A>G) c.665A>G (p.Gln222Arg) c.*867A>G (n.*867A>G) c.905A>G (p.Gln302Arg) c.*732A>G (n.*732A>G) | |
8 | g.43122771A>T | CA371123033 | POMK | c.947A>T (p.Gln316Leu) c.*743A>T (n.*743A>T) c.665A>T (p.Gln222Leu) c.*867A>T (n.*867A>T) c.905A>T (p.Gln302Leu) c.*732A>T (n.*732A>T) | |
8 | g.43122772G>A | CA460787535 | POMK | c.948G>A (p.Gln316=) c.*744G>A (n.*744G>A) c.666G>A (p.Gln222=) c.*868G>A (n.*868G>A) c.906G>A (p.Gln302=) c.*733G>A (n.*733G>A) | |
8 | g.43122772G>C | CA371123034 | POMK | c.948G>C (p.Gln316His) c.*744G>C (n.*744G>C) c.666G>C (p.Gln222His) c.*868G>C (n.*868G>C) c.906G>C (p.Gln302His) c.*733G>C (n.*733G>C) | |
8 | g.43122772G>T | CA371123035 | POMK | c.948G>T (p.Gln316His) c.*744G>T (n.*744G>T) c.666G>T (p.Gln222His) c.*868G>T (n.*868G>T) c.906G>T (p.Gln302His) c.*733G>T (n.*733G>T) | |
8 | g.43122773A>C | CA371123038 | POMK | c.949A>C (p.Thr317Pro) c.*745A>C (n.*745A>C) c.667A>C (p.Thr223Pro) c.*869A>C (n.*869A>C) c.907A>C (p.Thr303Pro) c.*734A>C (n.*734A>C) | |
8 | g.43122773A>G | CA371123037 | POMK | c.949A>G (p.Thr317Ala) c.*745A>G (n.*745A>G) c.667A>G (p.Thr223Ala) c.*869A>G (n.*869A>G) c.907A>G (p.Thr303Ala) c.*734A>G (n.*734A>G) | |
8 | g.43122773A>T | CA371123036 | POMK | c.949A>T (p.Thr317Ser) c.*745A>T (n.*745A>T) c.667A>T (p.Thr223Ser) c.*869A>T (n.*869A>T) c.907A>T (p.Thr303Ser) c.*734A>T (n.*734A>T) | |
8 | g.43122774C>A | CA371123039 | POMK | c.950C>A (p.Thr317Asn) c.*746C>A (n.*746C>A) c.668C>A (p.Thr223Asn) c.*870C>A (n.*870C>A) c.908C>A (p.Thr303Asn) c.*735C>A (n.*735C>A) | |
8 | g.43122774C>G | CA371123040 | POMK | c.950C>G (p.Thr317Ser) c.*746C>G (n.*746C>G) c.668C>G (p.Thr223Ser) c.*870C>G (n.*870C>G) c.908C>G (p.Thr303Ser) c.*735C>G (n.*735C>G) | |
8 | g.43122774C>T | CA371123041 | POMK | c.950C>T (p.Thr317Ile) c.*746C>T (n.*746C>T) c.668C>T (p.Thr223Ile) c.*870C>T (n.*870C>T) c.908C>T (p.Thr303Ile) c.*735C>T (n.*735C>T) | gnomAD v4 |
8 | g.43122777_43122780del | CA2687148605 | POMK | c.953_956del (p.Pro318GlnfsTer24) c.*749_*752del (n.*749_*752del) c.671_674del (p.Pro224GlnfsTer24) c.*873_*876del (n.*873_*876del) c.911_914del (p.Pro304GlnfsTer24) c.*738_*741del (n.*738_*741del) | gnomAD v4 |
8 | g.43122775T>A | CA460787538 | POMK | c.951T>A (p.Thr317=) c.*747T>A (n.*747T>A) c.669T>A (p.Thr223=) c.*871T>A (n.*871T>A) c.909T>A (p.Thr303=) c.*736T>A (n.*736T>A) | |
8 | g.43122775T>C | CA460787539 | POMK | c.951T>C (p.Thr317=) c.*747T>C (n.*747T>C) c.669T>C (p.Thr223=) c.*871T>C (n.*871T>C) c.909T>C (p.Thr303=) c.*736T>C (n.*736T>C) | gnomAD v4 |
8 | g.43122775T>G | CA460787540 | POMK | c.951T>G (p.Thr317=) c.*747T>G (n.*747T>G) c.669T>G (p.Thr223=) c.*871T>G (n.*871T>G) c.909T>G (p.Thr303=) c.*736T>G (n.*736T>G) | |
8 | g.43122776C>A | CA371123042 | POMK | c.952C>A (p.Pro318Thr) c.*748C>A (n.*748C>A) c.670C>A (p.Pro224Thr) c.*872C>A (n.*872C>A) c.910C>A (p.Pro304Thr) c.*737C>A (n.*737C>A) | |
8 | g.43122776C>G | CA371123043 | POMK | c.952C>G (p.Pro318Ala) c.*748C>G (n.*748C>G) c.670C>G (p.Pro224Ala) c.*872C>G (n.*872C>G) c.910C>G (p.Pro304Ala) c.*737C>G (n.*737C>G) | |
8 | g.43122776C>T | CA371123044 | POMK | c.952C>T (p.Pro318Ser) c.*748C>T (n.*748C>T) c.670C>T (p.Pro224Ser) c.*872C>T (n.*872C>T) c.910C>T (p.Pro304Ser) c.*737C>T (n.*737C>T) | |
8 | g.43122777C>A | CA371123045 | POMK | c.953C>A (p.Pro318His) c.*749C>A (n.*749C>A) c.671C>A (p.Pro224His) c.*873C>A (n.*873C>A) c.911C>A (p.Pro304His) c.*738C>A (n.*738C>A) | |
8 | g.43122777C>G | CA371123047 | POMK | c.953C>G (p.Pro318Arg) c.*749C>G (n.*749C>G) c.671C>G (p.Pro224Arg) c.*873C>G (n.*873C>G) c.911C>G (p.Pro304Arg) c.*738C>G (n.*738C>G) | |
8 | g.43122777C>T | CA371123046 | POMK | c.953C>T (p.Pro318Leu) c.*749C>T (n.*749C>T) c.671C>T (p.Pro224Leu) c.*873C>T (n.*873C>T) c.911C>T (p.Pro304Leu) c.*738C>T (n.*738C>T) | COSMIC COSMIC |
8 | g.43122778C>A | CA460787544 | POMK | c.954C>A (p.Pro318=) c.*750C>A (n.*750C>A) c.672C>A (p.Pro224=) c.*874C>A (n.*874C>A) c.912C>A (p.Pro304=) c.*739C>A (n.*739C>A) | |
8 | g.43122778C= | CA1779748193 | POMK | c.954C= (p.Pro318=) c.*750C= (n.*750C=) c.672C= (p.Pro224=) c.*874C= (n.*874C=) c.912C= (p.Pro304=) c.*739C= (n.*739C=) | |
8 | g.43122778C>G | CA176080780 | POMK | c.954C>G (p.Pro318=) c.*750C>G (n.*750C>G) c.672C>G (p.Pro224=) c.*874C>G (n.*874C>G) c.912C>G (p.Pro304=) c.*739C>G (n.*739C>G) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.43122778C>T | CA460787545 | POMK | c.954C>T (p.Pro318=) c.*750C>T (n.*750C>T) c.672C>T (p.Pro224=) c.*874C>T (n.*874C>T) c.912C>T (p.Pro304=) c.*739C>T (n.*739C>T) | |
8 | g.43122779T>A | CA371123048 | POMK | c.955T>A (p.Ser319Thr) c.*751T>A (n.*751T>A) c.673T>A (p.Ser225Thr) c.*875T>A (n.*875T>A) c.913T>A (p.Ser305Thr) c.*740T>A (n.*740T>A) | |
8 | g.43122779T>C | CA371123049 | POMK | c.955T>C (p.Ser319Pro) c.*751T>C (n.*751T>C) c.673T>C (p.Ser225Pro) c.*875T>C (n.*875T>C) c.913T>C (p.Ser305Pro) c.*740T>C (n.*740T>C) | |
8 | g.43122779T>G | CA371123050 | POMK | c.955T>G (p.Ser319Ala) c.*751T>G (n.*751T>G) c.673T>G (p.Ser225Ala) c.*875T>G (n.*875T>G) c.913T>G (p.Ser305Ala) c.*740T>G (n.*740T>G) | |
8 | g.43122780C>A | CA371123051 | POMK | c.956C>A (p.Ser319Ter) c.*752C>A (n.*752C>A) c.674C>A (p.Ser225Ter) c.*876C>A (n.*876C>A) c.914C>A (p.Ser305Ter) c.*741C>A (n.*741C>A) | |
8 | g.43122780C= | CA1779748198 | POMK | c.956C= (p.Ser319=) c.*752C= (n.*752C=) c.674C= (p.Ser225=) c.*876C= (n.*876C=) c.914C= (p.Ser305=) c.*741C= (n.*741C=) | |
8 | g.43122780C>G | CA371123052 | POMK | c.956C>G (p.Ser319Ter) c.*752C>G (n.*752C>G) c.674C>G (p.Ser225Ter) c.*876C>G (n.*876C>G) c.914C>G (p.Ser305Ter) c.*741C>G (n.*741C>G) | |
8 | g.43122780C>T | CA371123053 | POMK | c.956C>T (p.Ser319Leu) c.*752C>T (n.*752C>T) c.674C>T (p.Ser225Leu) c.*876C>T (n.*876C>T) c.914C>T (p.Ser305Leu) c.*741C>T (n.*741C>T) | dbSNP gnomAD v4 |
8 | g.43122781A= | CA1779748202 | POMK | c.957A= (p.Ser319=) c.*753A= (n.*753A=) c.675A= (p.Ser225=) c.*877A= (n.*877A=) c.915A= (p.Ser305=) c.*742A= (n.*742A=) | |
8 | g.43122781A>C | CA460787546 | POMK | c.957A>C (p.Ser319=) c.*753A>C (n.*753A>C) c.675A>C (p.Ser225=) c.*877A>C (n.*877A>C) c.915A>C (p.Ser305=) c.*742A>C (n.*742A>C) | |
8 | g.43122781A>G | CA176080782 | POMK | c.957A>G (p.Ser319=) c.*753A>G (n.*753A>G) c.675A>G (p.Ser225=) c.*877A>G (n.*877A>G) c.915A>G (p.Ser305=) c.*742A>G (n.*742A>G) | dbSNP |
8 | g.43122781A>T | CA460787547 | POMK | c.957A>T (p.Ser319=) c.*753A>T (n.*753A>T) c.675A>T (p.Ser225=) c.*877A>T (n.*877A>T) c.915A>T (p.Ser305=) c.*742A>T (n.*742A>T) | |
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.43122782G>A | CA371123054 | POMK | c.958G>A (p.Glu320Lys) c.*754G>A (n.*754G>A) c.676G>A (p.Glu226Lys) c.*878G>A (n.*878G>A) c.916G>A (p.Glu306Lys) c.*743G>A (n.*743G>A) | |
8 | g.43122782G>C | CA371123055 | POMK | c.958G>C (p.Glu320Gln) c.*754G>C (n.*754G>C) c.676G>C (p.Glu226Gln) c.*878G>C (n.*878G>C) c.916G>C (p.Glu306Gln) c.*743G>C (n.*743G>C) | |
8 | g.43122782G>T | CA371123056 | POMK | c.958G>T (p.Glu320Ter) c.*754G>T (n.*754G>T) c.676G>T (p.Glu226Ter) c.*878G>T (n.*878G>T) c.916G>T (p.Glu306Ter) c.*743G>T (n.*743G>T) |