Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.43122682A>CCA460787365POMKc.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)
8g.43122682A>GCA460787366POMKc.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
8g.43122682A>TCA460787367POMKc.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)
8g.43122683G>ACA371122832POMKc.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
8g.43122683G>CCA371122833POMKc.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
8g.43122683G=CA1779747833POMKc.859G= (p.Asp287=)
c.*655G= (n.*655G=)
c.577G= (p.Asp193=)
c.*779G= (n.*779G=)
c.817G= (p.Asp273=)
c.*644G= (n.*644G=)
8g.43122683G>TCA371122834POMKc.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)
8g.43122684A=CA1779747839POMKc.860A= (p.Asp287=)
c.*656A= (n.*656A=)
c.578A= (p.Asp193=)
c.*780A= (n.*780A=)
c.818A= (p.Asp273=)
c.*645A= (n.*645A=)
8g.43122684A>CCA371122835POMKc.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)
8g.43122684A>GCA4736365POMKc.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
8g.43122684A>TCA371122836POMKc.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
8g.43122685C>ACA371122837POMKc.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)
8g.43122685C=CA1779747843POMKc.861C= (p.Asp287=)
c.*657C= (n.*657C=)
c.579C= (p.Asp193=)
c.*781C= (n.*781C=)
c.819C= (p.Asp273=)
c.*646C= (n.*646C=)
8g.43122685C>GCA371122838POMKc.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)
8g.43122685C>TCA4736366POMKc.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
8g.43122686A=CA1779747849POMKc.862A= (p.Ile288=)
c.*658A= (n.*658A=)
c.580A= (p.Ile194=)
c.*782A= (n.*782A=)
c.820A= (p.Ile274=)
c.*647A= (n.*647A=)
8g.43122686A>CCA371122839POMKc.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)
8g.43122686A>GCA371122840POMKc.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
8g.43122686A>TCA4736367POMKc.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
8g.43122687T>ACA371122843POMKc.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)
8g.43122687T>CCA371122841POMKc.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)
8g.43122687T>GCA371122842POMKc.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)
8g.43122688C>ACA460787372POMKc.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)
8g.43122688C=CA1779747852POMKc.864C= (p.Ile288=)
c.*660C= (n.*660C=)
c.582C= (p.Ile194=)
c.*784C= (n.*784C=)
c.822C= (p.Ile274=)
c.*649C= (n.*649C=)
8g.43122688C>GCA371122844POMKc.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)
8g.43122688C>TCA4736368POMKc.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
8g.43122689T>ACA371122845POMKc.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)
8g.43122689T>CCA371122846POMKc.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
8g.43122689T>GCA371122847POMKc.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)
8g.43122690C>ACA371122848POMKc.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)
8g.43122690C>GCA371122849POMKc.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)
8g.43122690C>TCA371122850POMKc.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)
8g.43122691C>ACA460787376POMKc.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)
8g.43122691C>GCA460787377POMKc.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)
8g.43122691C>TCA460787378POMKc.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)
8g.43122692A>CCA371122851POMKc.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)
8g.43122692A>GCA371122852POMKc.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)
8g.43122692A>TCA371122853POMKc.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)
8g.43122693G>ACA371122856POMKc.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)
8g.43122693G>CCA371122855POMKc.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
8g.43122693G>TCA371122854POMKc.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
8g.43122694T>ACA371122858POMKc.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)
8g.43122694T>CCA460787382POMKc.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)
8g.43122694T>GCA371122857POMKc.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)
8g.43122695T>ACA371122859POMKc.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)
8g.43122695T>CCA371122860POMKc.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)
8g.43122695T>GCA371122861POMKc.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)
8g.43122696T>ACA371122862POMKc.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)
8g.43122696T>CCA371122863POMKc.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)
8g.43122696T>GCA371122864POMKc.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)
8g.43122697C>ACA371122865POMKc.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)
8g.43122697C>GCA371122866POMKc.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)
8g.43122697C>TCA460787387POMKc.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
8g.43122698C>ACA371122867POMKc.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)
8g.43122698C=CA1779747854POMKc.874C= (p.Leu292=)
c.*670C= (n.*670C=)
c.592C= (p.Leu198=)
c.*794C= (n.*794C=)
c.832C= (p.Leu278=)
c.*659C= (n.*659C=)
8g.43122698C>GCA371122868POMKc.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)
8g.43122698C>TCA371122869POMKc.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
8g.43122699T>ACA371122872POMKc.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)
8g.43122699T>CCA371122871POMKc.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)
8g.43122699T>GCA371122870POMKc.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)
8g.43122700T>ACA460787389POMKc.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)
8g.43122700T>CCA460787391POMKc.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)
8g.43122700T>GCA460787393POMKc.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)
8g.43122701C>ACA371122873POMKc.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)
8g.43122701C=CA1779747858POMKc.877C= (p.Leu293=)
c.*673C= (n.*673C=)
c.595C= (p.Leu199=)
c.*797C= (n.*797C=)
c.835C= (p.Leu279=)
c.*662C= (n.*662C=)
8g.43122701C>GCA371122874POMKc.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)
8g.43122701C>TCA4736369POMKc.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
8g.43122702T>ACA371122875POMKc.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)
8g.43122702T>CCA371122876POMKc.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)
8g.43122702T>GCA371122877POMKc.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)
8g.43122702_43122715delinsTGGGGCACATTGAACA1779747862POMKc.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)
8g.43122703G>ACA460787394POMKc.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)
8g.43122703G>CCA460787395POMKc.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
8g.43122703G>TCA460787396POMKc.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)
8g.43122706delCA2687148571POMKc.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
8g.43122706_43122718delCA1113252749POMKc.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
8g.43122704G>ACA371122878POMKc.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)
8g.43122704G>CCA371122879POMKc.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
8g.43122704G=CA1779747865POMKc.880G= (p.Gly294=)
c.*676G= (n.*676G=)
c.598G= (p.Gly200=)
c.*800G= (n.*800G=)
c.838G= (p.Gly280=)
c.*665G= (n.*665G=)
8g.43122704G>TCA371122880POMKc.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)
8g.43122705G>ACA371122881POMKc.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
8g.43122705G>CCA371122882POMKc.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)
8g.43122705G=CA1779747867POMKc.881G= (p.Gly294=)
c.*677G= (n.*677G=)
c.599G= (p.Gly200=)
c.*801G= (n.*801G=)
c.839G= (p.Gly280=)
c.*666G= (n.*666G=)
8g.43122705G>TCA371122883POMKc.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)
8g.43122706G>ACA4736370POMKc.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
8g.43122706G>CCA460787400POMKc.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)
8g.43122706G=CA1779747870POMKc.882G= (p.Gly294=)
c.*678G= (n.*678G=)
c.600G= (p.Gly200=)
c.*802G= (n.*802G=)
c.840G= (p.Gly280=)
c.*667G= (n.*667G=)
8g.43122706G>TCA460787399POMKc.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)
8g.43122707C>ACA371122885POMKc.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)
8g.43122707C=CA1779747874POMKc.883C= (p.His295=)
c.*679C= (n.*679C=)
c.601C= (p.His201=)
c.*803C= (n.*803C=)
c.841C= (p.His281=)
c.*668C= (n.*668C=)
8g.43122707C>GCA371122886POMKc.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
8g.43122707C>TCA371122884POMKc.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
8g.43122708A>CCA371122887POMKc.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)
8g.43122708A>GCA371122888POMKc.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)
8g.43122708A>TCA371122889POMKc.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
8g.43122709C>ACA371122890POMKc.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)
8g.43122709C=CA1779747880POMKc.885C= (p.His295=)
c.*681C= (n.*681C=)
c.603C= (p.His201=)
c.*805C= (n.*805C=)
c.843C= (p.His281=)
c.*670C= (n.*670C=)
8g.43122709C>GCA371122891POMKc.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)
8g.43122709C>TCA460787403POMKc.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
8g.43122710A=CA1779747885POMKc.886A= (p.Ile296=)
c.*682A= (n.*682A=)
c.604A= (p.Ile202=)
c.*806A= (n.*806A=)
c.844A= (p.Ile282=)
c.*671A= (n.*671A=)
8g.43122710A>CCA371122892POMKc.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)
8g.43122710A>GCA4736371POMKc.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
8g.43122710A>TCA371122893POMKc.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)
8g.43122712_43122724delCA2687148572POMKc.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
8g.43122711T>ACA176080688POMKc.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
8g.43122711T>CCA4736372POMKc.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
8g.43122711T>GCA371122894POMKc.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)
8g.43122711T=CA1779747888POMKc.887T= (p.Ile296=)
c.*683T= (n.*683T=)
c.605T= (p.Ile202=)
c.*807T= (n.*807T=)
c.845T= (p.Ile282=)
c.*672T= (n.*672T=)
8g.43122712T>ACA460787406POMKc.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)
8g.43122712T>CCA460787407POMKc.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)
8g.43122712T>GCA371122895POMKc.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)
8g.43122713G>ACA371122896POMKc.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
8g.43122713G>CCA371122897POMKc.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)
8g.43122713G=CA1779747890POMKc.889G= (p.Glu297=)
c.*685G= (n.*685G=)
c.607G= (p.Glu203=)
c.*809G= (n.*809G=)
c.847G= (p.Glu283=)
c.*674G= (n.*674G=)
8g.43122713G>TCA371122898POMKc.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)
8g.43122714A>CCA371122899POMKc.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)
8g.43122714A>GCA371122901POMKc.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)
8g.43122714A>TCA371122900POMKc.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)
8g.43122715dupCA1779747891POMKc.891dup (p.Gly298ArgfsTer3)
c.*687dup (n.*687dup)
c.609dup (p.Gly204ArgfsTer3)
c.*811dup (n.*811dup)
c.849dup (p.Gly284ArgfsTer3)
c.*676dup (n.*676dup)
dbSNP
8g.43122715A>CCA371122902POMKc.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)
8g.43122715A>GCA460787409POMKc.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)
8g.43122715A>TCA371122903POMKc.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)
8g.43122716G>ACA371122904POMKc.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
8g.43122716G>CCA371122905POMKc.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)
8g.43122716G=CA1779747894POMKc.892G= (p.Gly298=)
c.*688G= (n.*688G=)
c.610G= (p.Gly204=)
c.*812G= (n.*812G=)
c.850G= (p.Gly284=)
c.*677G= (n.*677G=)
8g.43122716G>TCA371122906POMKc.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)
8g.43122717G>ACA371122907POMKc.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)
8g.43122717G>CCA371122908POMKc.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)
8g.43122717G>TCA371122909POMKc.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)
8g.43122718G>ACA460787410POMKc.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
8g.43122718G>CCA460787411POMKc.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)
8g.43122718G=CA1779747897POMKc.894G= (p.Gly298=)
c.*690G= (n.*690G=)
c.612G= (p.Gly204=)
c.*814G= (n.*814G=)
c.852G= (p.Gly284=)
c.*679G= (n.*679G=)
8g.43122718G>TCA460787412POMKc.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
8g.43122719A>CCA371122910POMKc.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
8g.43122719A>GCA371122911POMKc.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)
8g.43122719A>TCA371122912POMKc.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)
8g.43122720G>ACA371122913POMKc.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)
8g.43122720G>CCA371122915POMKc.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)
8g.43122720G>TCA371122914POMKc.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)
8g.43122721T>ACA371122916POMKc.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)
8g.43122721T>CCA460787415POMKc.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)
8g.43122721T>GCA371122917POMKc.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)
8g.43122722G>ACA371122918POMKc.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)
8g.43122722G>CCA371122919POMKc.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)
8g.43122722G>TCA371122920POMKc.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)
8g.43122723A>CCA371122921POMKc.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)
8g.43122723A>GCA371122922POMKc.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)
8g.43122723A>TCA371122923POMKc.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)
8g.43122724T>ACA371122924POMKc.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)
8g.43122724T>CCA460787420POMKc.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)
8g.43122724T>GCA371122925POMKc.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)
8g.43122725A=CA1779747899POMKc.901A= (p.Met301=)
c.*697A= (n.*697A=)
c.619A= (p.Met207=)
c.*821A= (n.*821A=)
c.859A= (p.Met287=)
c.*686A= (n.*686A=)
8g.43122725A>CCA371122926POMKc.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)
8g.43122725A>GCA4736373POMKc.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
8g.43122725A>TCA371122927POMKc.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)
8g.43122726T>ACA371122928POMKc.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)
8g.43122726T>CCA4736374POMKc.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
8g.43122726T>GCA371122929POMKc.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)
8g.43122726T=CA1779747904POMKc.902T= (p.Met301=)
c.*698T= (n.*698T=)
c.620T= (p.Met207=)
c.*822T= (n.*822T=)
c.860T= (p.Met287=)
c.*687T= (n.*687T=)
8g.43122727G>ACA371122930POMKc.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)
8g.43122727G>CCA371122931POMKc.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)
8g.43122727G>TCA371122932POMKc.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)
8g.43122728G>ACA371122933POMKc.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)
8g.43122728G>CCA371122934POMKc.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)
8g.43122728G=CA1779747906POMKc.904G= (p.Val302=)
c.*700G= (n.*700G=)
c.622G= (p.Val208=)
c.*824G= (n.*824G=)
c.862G= (p.Val288=)
c.*689G= (n.*689G=)
8g.43122728G>TCA371122935POMKc.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
8g.43122729T>ACA173960POMKc.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
8g.43122729T>CCA371122936POMKc.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
8g.43122729T>GCA371122937POMKc.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)
8g.43122729T=CA1779747909POMKc.905T= (p.Val302=)
c.*701T= (n.*701T=)
c.623T= (p.Val208=)
c.*825T= (n.*825T=)
c.863T= (p.Val288=)
c.*690T= (n.*690T=)
8g.43122730C>ACA460787427POMKc.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)
8g.43122730C=CA1779747915POMKc.906C= (p.Val302=)
c.*702C= (n.*702C=)
c.624C= (p.Val208=)
c.*826C= (n.*826C=)
c.864C= (p.Val288=)
c.*691C= (n.*691C=)
8g.43122730C>GCA460787428POMKc.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)
8g.43122730C>TCA460787429POMKc.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
8g.43122731C>ACA460787430POMKc.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)
8g.43122731C=CA1779747919POMKc.907C= (p.Arg303=)
c.*703C= (n.*703C=)
c.625C= (p.Arg209=)
c.*827C= (n.*827C=)
c.865C= (p.Arg289=)
c.*692C= (n.*692C=)
8g.43122731C>GCA371122938POMKc.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)
8g.43122731C>TCA4736375POMKc.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
8g.43122732G>ACA4736376POMKc.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
8g.43122732G>CCA371122940POMKc.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)
8g.43122732G=CA1779747923POMKc.908G= (p.Arg303=)
c.*704G= (n.*704G=)
c.626G= (p.Arg209=)
c.*828G= (n.*828G=)
c.866G= (p.Arg289=)
c.*693G= (n.*693G=)
8g.43122732G>TCA371122939POMKc.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)
8g.43122733A>CCA460787432POMKc.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)
8g.43122733A>GCA460787433POMKc.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)
8g.43122733A>TCA460787434POMKc.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)
8g.43122734T>ACA371122941POMKc.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)
8g.43122734T>CCA4736377POMKc.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
8g.43122734T>GCA371122942POMKc.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)
8g.43122734T=CA1779747931POMKc.910T= (p.Phe304=)
c.*706T= (n.*706T=)
c.628T= (p.Phe210=)
c.*830T= (n.*830T=)
c.868T= (p.Phe290=)
c.*695T= (n.*695T=)
8g.43122735T>ACA371122943POMKc.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)
8g.43122735T>CCA371122945POMKc.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)
8g.43122735T>GCA371122944POMKc.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)
8g.43122736C>ACA371122946POMKc.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)
8g.43122736C>GCA371122947POMKc.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)
8g.43122736C>TCA460787439POMKc.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
8g.43122737C>ACA371122948POMKc.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)
8g.43122737C>GCA371122949POMKc.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)
8g.43122737C>TCA371122950POMKc.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)
8g.43122738A=CA1779747939POMKc.914A= (p.His305=)
c.*710A= (n.*710A=)
c.632A= (p.His211=)
c.*834A= (n.*834A=)
c.872A= (p.His291=)
c.*699A= (n.*699A=)
8g.43122738A>CCA371122951POMKc.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)
8g.43122738A>GCA4736378POMKc.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
8g.43122738A>TCA371122952POMKc.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)
8g.43122739T>ACA371122953POMKc.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)
8g.43122739T>CCA460787441POMKc.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)
8g.43122739T>GCA371122954POMKc.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)
8g.43122741dupCA10603099POMKc.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
8g.43122740T>ACA371122955POMKc.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)
8g.43122740T>CCA460787442POMKc.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)
8g.43122740T>GCA371122956POMKc.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)
8g.43122741T>ACA371122959POMKc.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)
8g.43122741T>CCA371122958POMKc.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)
8g.43122741T>GCA371122957POMKc.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)
8g.43122742G>ACA460787447POMKc.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)
8g.43122742G>CCA371122960POMKc.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)
8g.43122742G>TCA371122961POMKc.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)
8g.43122743T>ACA371122962POMKc.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)
8g.43122743T>CCA176080751POMKc.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
8g.43122743T>GCA371122963POMKc.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)
8g.43122743T=CA1779747950POMKc.919T= (p.Phe307=)
c.*715T= (n.*715T=)
c.637T= (p.Phe213=)
c.*839T= (n.*839T=)
c.877T= (p.Phe293=)
c.*704T= (n.*704T=)
8g.43122744T>ACA371122964POMKc.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)
8g.43122744T>CCA371122965POMKc.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
8g.43122744T>GCA371122966POMKc.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)
8g.43122745T>ACA371122967POMKc.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)
8g.43122745T>CCA460787449POMKc.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)
8g.43122745T>GCA371122968POMKc.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)
8g.43122746G>ACA371122969POMKc.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)
8g.43122746G>CCA371122970POMKc.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)
8g.43122746G>TCA371122971POMKc.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
8g.43122747A>CCA371122973POMKc.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)
8g.43122747A>GCA371122974POMKc.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
8g.43122747A>TCA371122972POMKc.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)
8g.43122748T>ACA371122975POMKc.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)
8g.43122748T>CCA460787517POMKc.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)
8g.43122748T>GCA371122976POMKc.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)
8g.43122749A>CCA371122977POMKc.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)
8g.43122749A>GCA371122978POMKc.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)
8g.43122749A>TCA371122979POMKc.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)
8g.43122750T>ACA371122980POMKc.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
8g.43122750T>CCA4736379POMKc.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
8g.43122750T>GCA371122981POMKc.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)
8g.43122750T=CA1779748162POMKc.926T= (p.Ile309=)
c.*722T= (n.*722T=)
c.644T= (p.Ile215=)
c.*846T= (n.*846T=)
c.884T= (p.Ile295=)
c.*711T= (n.*711T=)
8g.43122751T>ACA460787518POMKc.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)
8g.43122751T>CCA460787519POMKc.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)
8g.43122751T>GCA371122982POMKc.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)
8g.43122752C>ACA371122983POMKc.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)
8g.43122752C>GCA371122984POMKc.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)
8g.43122752C>TCA371122985POMKc.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)
8g.43122753A>CCA371122986POMKc.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)
8g.43122753A>GCA371122988POMKc.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)
8g.43122753A>TCA371122987POMKc.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)
8g.43122754C>ACA371122989POMKc.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)
8g.43122754C>GCA371122990POMKc.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)
8g.43122754C>TCA460787523POMKc.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)
8g.43122755A>CCA371122991POMKc.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)
8g.43122755A>GCA371122992POMKc.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)
8g.43122755A>TCA371122993POMKc.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)
8g.43122756A>CCA371122994POMKc.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)
8g.43122756A>GCA371122995POMKc.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)
8g.43122756A>TCA371122996POMKc.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)
8g.43122757A>CCA371122997POMKc.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)
8g.43122757A>GCA460787524POMKc.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)
8g.43122757A>TCA371122998POMKc.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)
8g.43122758G>ACA371123000POMKc.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)
8g.43122758G>CCA371123001POMKc.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)
8g.43122758G>TCA371122999POMKc.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)
8g.43122759C>ACA371123003POMKc.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)
8g.43122759C=CA1779748169POMKc.935C= (p.Ala312=)
c.*731C= (n.*731C=)
c.653C= (p.Ala218=)
c.*855C= (n.*855C=)
c.893C= (p.Ala298=)
c.*720C= (n.*720C=)
8g.43122759C>GCA371123002POMKc.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)
8g.43122759C>TCA176080759POMKc.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
8g.43122760A=CA1779748174POMKc.936A= (p.Ala312=)
c.*732A= (n.*732A=)
c.654A= (p.Ala218=)
c.*856A= (n.*856A=)
c.894A= (p.Ala298=)
c.*721A= (n.*721A=)
8g.43122760A>CCA460787529POMKc.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
8g.43122760A>GCA4736380POMKc.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
8g.43122760A>TCA460787530POMKc.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)
8g.43122761T>ACA371123004POMKc.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)
8g.43122761T>CCA371123005POMKc.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)
8g.43122761T>GCA371123006POMKc.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)
8g.43122762G>ACA371123009POMKc.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
8g.43122762G>CCA371123007POMKc.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)
8g.43122762G=CA1779748177POMKc.938G= (p.Cys313=)
c.*734G= (n.*734G=)
c.656G= (p.Cys219=)
c.*858G= (n.*858G=)
c.896G= (p.Cys299=)
c.*723G= (n.*723G=)
8g.43122762G>TCA371123008POMKc.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)
8g.43122763C>ACA371123010POMKc.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)
8g.43122763C>GCA371123011POMKc.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)
8g.43122763C>TCA460787532POMKc.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)
8g.43122764A=CA1779748181POMKc.940A= (p.Lys314=)
c.*736A= (n.*736A=)
c.658A= (p.Lys220=)
c.*860A= (n.*860A=)
c.898A= (p.Lys300=)
c.*725A= (n.*725A=)
8g.43122764A>CCA371123012POMKc.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)
8g.43122764A>GCA371123013POMKc.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
8g.43122764A>TCA371123014POMKc.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)
8g.43122765A>CCA371123015POMKc.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)
8g.43122765A>GCA371123017POMKc.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)
8g.43122765A>TCA371123016POMKc.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)
8g.43122766G>ACA4736381POMKc.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
8g.43122766G>CCA371123018POMKc.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)
8g.43122766G=CA1779748184POMKc.942G= (p.Lys314=)
c.*738G= (n.*738G=)
c.660G= (p.Lys220=)
c.*862G= (n.*862G=)
c.900G= (p.Lys300=)
c.*727G= (n.*727G=)
8g.43122766G>TCA371123019POMKc.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)
8g.43122767A>CCA371123020POMKc.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)
8g.43122767A>GCA371123021POMKc.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
8g.43122767A>TCA371123022POMKc.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
8g.43122768G>ACA371123023POMKc.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
8g.43122768G>CCA371123024POMKc.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)
8g.43122768G=CA1779748188POMKc.944G= (p.Ser315=)
c.*740G= (n.*740G=)
c.662G= (p.Ser221=)
c.*864G= (n.*864G=)
c.902G= (p.Ser301=)
c.*729G= (n.*729G=)
8g.43122768G>TCA371123025POMKc.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)
8g.43122769C>ACA371123026POMKc.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)
8g.43122769C=CA1779748190POMKc.945C= (p.Ser315=)
c.*741C= (n.*741C=)
c.663C= (p.Ser221=)
c.*865C= (n.*865C=)
c.903C= (p.Ser301=)
c.*730C= (n.*730C=)
8g.43122769C>GCA371123027POMKc.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
8g.43122769C>TCA460787534POMKc.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)
8g.43122770C>ACA371123030POMKc.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)
8g.43122770C>GCA371123029POMKc.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)
8g.43122770C>TCA371123028POMKc.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
8g.43122771A>CCA371123031POMKc.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)
8g.43122771A>GCA371123032POMKc.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)
8g.43122771A>TCA371123033POMKc.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)
8g.43122772G>ACA460787535POMKc.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)
8g.43122772G>CCA371123034POMKc.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)
8g.43122772G>TCA371123035POMKc.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)
8g.43122773A>CCA371123038POMKc.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)
8g.43122773A>GCA371123037POMKc.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)
8g.43122773A>TCA371123036POMKc.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)
8g.43122774C>ACA371123039POMKc.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)
8g.43122774C>GCA371123040POMKc.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)
8g.43122774C>TCA371123041POMKc.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
8g.43122777_43122780delCA2687148605POMKc.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
8g.43122775T>ACA460787538POMKc.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)
8g.43122775T>CCA460787539POMKc.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
8g.43122775T>GCA460787540POMKc.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)
8g.43122776C>ACA371123042POMKc.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)
8g.43122776C>GCA371123043POMKc.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)
8g.43122776C>TCA371123044POMKc.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)
8g.43122777C>ACA371123045POMKc.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)
8g.43122777C>GCA371123047POMKc.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)
8g.43122777C>TCA371123046POMKc.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
8g.43122778C>ACA460787544POMKc.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)
8g.43122778C=CA1779748193POMKc.954C= (p.Pro318=)
c.*750C= (n.*750C=)
c.672C= (p.Pro224=)
c.*874C= (n.*874C=)
c.912C= (p.Pro304=)
c.*739C= (n.*739C=)
8g.43122778C>GCA176080780POMKc.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
8g.43122778C>TCA460787545POMKc.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)
8g.43122779T>ACA371123048POMKc.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)
8g.43122779T>CCA371123049POMKc.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)
8g.43122779T>GCA371123050POMKc.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)
8g.43122780C>ACA371123051POMKc.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)
8g.43122780C=CA1779748198POMKc.956C= (p.Ser319=)
c.*752C= (n.*752C=)
c.674C= (p.Ser225=)
c.*876C= (n.*876C=)
c.914C= (p.Ser305=)
c.*741C= (n.*741C=)
8g.43122780C>GCA371123052POMKc.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)
8g.43122780C>TCA371123053POMKc.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
8g.43122781A=CA1779748202POMKc.957A= (p.Ser319=)
c.*753A= (n.*753A=)
c.675A= (p.Ser225=)
c.*877A= (n.*877A=)
c.915A= (p.Ser305=)
c.*742A= (n.*742A=)
8g.43122781A>CCA460787546POMKc.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)
8g.43122781A>GCA176080782POMKc.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
8g.43122781A>TCA460787547POMKc.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)
8g.43122784_43122787delCA2687148610POMKc.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
8g.43122782G>ACA371123054POMKc.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)
8g.43122782G>CCA371123055POMKc.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)
8g.43122782G>TCA371123056POMKc.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)

Number of alleles fetched