Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.43122605C>A | CA371122649 | POMK | c.781C>A (p.Pro261Thr) c.*577C>A (n.*577C>A) c.499C>A (p.Pro167Thr) c.*701C>A (n.*701C>A) c.739C>A (p.Pro247Thr) c.*566C>A (n.*566C>A) | |
8 | g.43122605C>G | CA371122648 | POMK | c.781C>G (p.Pro261Ala) c.*577C>G (n.*577C>G) c.499C>G (p.Pro167Ala) c.*701C>G (n.*701C>G) c.739C>G (p.Pro247Ala) c.*566C>G (n.*566C>G) | |
8 | g.43122605C>T | CA371122647 | POMK | c.781C>T (p.Pro261Ser) c.*577C>T (n.*577C>T) c.499C>T (p.Pro167Ser) c.*701C>T (n.*701C>T) c.739C>T (p.Pro247Ser) c.*566C>T (n.*566C>T) | |
8 | g.43122606C>A | CA371122650 | POMK | c.782C>A (p.Pro261His) c.*578C>A (n.*578C>A) c.500C>A (p.Pro167His) c.*702C>A (n.*702C>A) c.740C>A (p.Pro247His) c.*567C>A (n.*567C>A) | |
8 | g.43122606C= | CA1779747716 | POMK | c.782C= (p.Pro261=) c.*578C= (n.*578C=) c.500C= (p.Pro167=) c.*702C= (n.*702C=) c.740C= (p.Pro247=) c.*567C= (n.*567C=) | |
8 | g.43122606C>G | CA371122651 | POMK | c.782C>G (p.Pro261Arg) c.*578C>G (n.*578C>G) c.500C>G (p.Pro167Arg) c.*702C>G (n.*702C>G) c.740C>G (p.Pro247Arg) c.*567C>G (n.*567C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43122606C>T | CA371122652 | POMK | c.782C>T (p.Pro261Leu) c.*578C>T (n.*578C>T) c.500C>T (p.Pro167Leu) c.*702C>T (n.*702C>T) c.740C>T (p.Pro247Leu) c.*567C>T (n.*567C>T) | gnomAD v4 |
8 | g.43122607C>A | CA460787490 | POMK | c.783C>A (p.Pro261=) c.*579C>A (n.*579C>A) c.501C>A (p.Pro167=) c.*703C>A (n.*703C>A) c.741C>A (p.Pro247=) c.*568C>A (n.*568C>A) | |
8 | g.43122607C>G | CA460787491 | POMK | c.783C>G (p.Pro261=) c.*579C>G (n.*579C>G) c.501C>G (p.Pro167=) c.*703C>G (n.*703C>G) c.741C>G (p.Pro247=) c.*568C>G (n.*568C>G) | |
8 | g.43122607C>T | CA460787492 | POMK | c.783C>T (p.Pro261=) c.*579C>T (n.*579C>T) c.501C>T (p.Pro167=) c.*703C>T (n.*703C>T) c.741C>T (p.Pro247=) c.*568C>T (n.*568C>T) | gnomAD v4 |
8 | g.43122608T>A | CA371122653 | POMK | c.784T>A (p.Tyr262Asn) c.*580T>A (n.*580T>A) c.502T>A (p.Tyr168Asn) c.*704T>A (n.*704T>A) c.742T>A (p.Tyr248Asn) c.*569T>A (n.*569T>A) | |
8 | g.43122608T>C | CA371122654 | POMK | c.784T>C (p.Tyr262His) c.*580T>C (n.*580T>C) c.502T>C (p.Tyr168His) c.*704T>C (n.*704T>C) c.742T>C (p.Tyr248His) c.*569T>C (n.*569T>C) | gnomAD v4 |
8 | g.43122608T>G | CA371122655 | POMK | c.784T>G (p.Tyr262Asp) c.*580T>G (n.*580T>G) c.502T>G (p.Tyr168Asp) c.*704T>G (n.*704T>G) c.742T>G (p.Tyr248Asp) c.*569T>G (n.*569T>G) | |
8 | g.43122609A= | CA1779747719 | POMK | c.785A= (p.Tyr262=) c.*581A= (n.*581A=) c.503A= (p.Tyr168=) c.*705A= (n.*705A=) c.743A= (p.Tyr248=) c.*570A= (n.*570A=) | |
8 | g.43122609A>C | CA371122658 | POMK | c.785A>C (p.Tyr262Ser) c.*581A>C (n.*581A>C) c.503A>C (p.Tyr168Ser) c.*705A>C (n.*705A>C) c.743A>C (p.Tyr248Ser) c.*570A>C (n.*570A>C) | |
8 | g.43122609A>G | CA371122656 | POMK | c.785A>G (p.Tyr262Cys) c.*581A>G (n.*581A>G) c.503A>G (p.Tyr168Cys) c.*705A>G (n.*705A>G) c.743A>G (p.Tyr248Cys) c.*570A>G (n.*570A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43122609A>T | CA371122657 | POMK | c.785A>T (p.Tyr262Phe) c.*581A>T (n.*581A>T) c.503A>T (p.Tyr168Phe) c.*705A>T (n.*705A>T) c.743A>T (p.Tyr248Phe) c.*570A>T (n.*570A>T) | |
8 | g.43122610T>A | CA371122659 | POMK | c.786T>A (p.Tyr262Ter) c.*582T>A (n.*582T>A) c.504T>A (p.Tyr168Ter) c.*706T>A (n.*706T>A) c.744T>A (p.Tyr248Ter) c.*571T>A (n.*571T>A) | |
8 | g.43122610T>C | CA460787494 | POMK | c.786T>C (p.Tyr262=) c.*582T>C (n.*582T>C) c.504T>C (p.Tyr168=) c.*706T>C (n.*706T>C) c.744T>C (p.Tyr248=) c.*571T>C (n.*571T>C) | gnomAD v4 |
8 | g.43122610T>G | CA371122660 | POMK | c.786T>G (p.Tyr262Ter) c.*582T>G (n.*582T>G) c.504T>G (p.Tyr168Ter) c.*706T>G (n.*706T>G) c.744T>G (p.Tyr248Ter) c.*571T>G (n.*571T>G) | |
8 | g.43122611G>A | CA371122661 | POMK | c.787G>A (p.Gly263Arg) c.*583G>A (n.*583G>A) c.505G>A (p.Gly169Arg) c.*707G>A (n.*707G>A) c.745G>A (p.Gly249Arg) c.*572G>A (n.*572G>A) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.43122611G>C | CA371122662 | POMK | c.787G>C (p.Gly263Arg) c.*583G>C (n.*583G>C) c.505G>C (p.Gly169Arg) c.*707G>C (n.*707G>C) c.745G>C (p.Gly249Arg) c.*572G>C (n.*572G>C) | |
8 | g.43122611G= | CA1779747722 | POMK | c.787G= (p.Gly263=) c.*583G= (n.*583G=) c.505G= (p.Gly169=) c.*707G= (n.*707G=) c.745G= (p.Gly249=) c.*572G= (n.*572G=) | |
8 | g.43122611G>T | CA371122663 | POMK | c.787G>T (p.Gly263Ter) c.*583G>T (n.*583G>T) c.505G>T (p.Gly169Ter) c.*707G>T (n.*707G>T) c.745G>T (p.Gly249Ter) c.*572G>T (n.*572G>T) | |
8 | g.43122612G>A | CA371122666 | POMK | c.788G>A (p.Gly263Glu) c.*584G>A (n.*584G>A) c.506G>A (p.Gly169Glu) c.*708G>A (n.*708G>A) c.746G>A (p.Gly249Glu) c.*573G>A (n.*573G>A) | dbSNP |
8 | g.43122612G>C | CA371122664 | POMK | c.788G>C (p.Gly263Ala) c.*584G>C (n.*584G>C) c.506G>C (p.Gly169Ala) c.*708G>C (n.*708G>C) c.746G>C (p.Gly249Ala) c.*573G>C (n.*573G>C) | |
8 | g.43122612G= | CA1779747725 | POMK | c.788G= (p.Gly263=) c.*584G= (n.*584G=) c.506G= (p.Gly169=) c.*708G= (n.*708G=) c.746G= (p.Gly249=) c.*573G= (n.*573G=) | |
8 | g.43122612G>T | CA371122665 | POMK | c.788G>T (p.Gly263Val) c.*584G>T (n.*584G>T) c.506G>T (p.Gly169Val) c.*708G>T (n.*708G>T) c.746G>T (p.Gly249Val) c.*573G>T (n.*573G>T) | |
8 | g.43122613A>C | CA460787496 | POMK | c.789A>C (p.Gly263=) c.*585A>C (n.*585A>C) c.507A>C (p.Gly169=) c.*709A>C (n.*709A>C) c.747A>C (p.Gly249=) c.*574A>C (n.*574A>C) | |
8 | g.43122613A>G | CA460787497 | POMK | c.789A>G (p.Gly263=) c.*585A>G (n.*585A>G) c.507A>G (p.Gly169=) c.*709A>G (n.*709A>G) c.747A>G (p.Gly249=) c.*574A>G (n.*574A>G) | |
8 | g.43122613A>T | CA460787498 | POMK | c.789A>T (p.Gly263=) c.*585A>T (n.*585A>T) c.507A>T (p.Gly169=) c.*709A>T (n.*709A>T) c.747A>T (p.Gly249=) c.*574A>T (n.*574A>T) | |
8 | g.43122614G>A | CA371122667 | POMK | c.790G>A (p.Glu264Lys) c.*586G>A (n.*586G>A) c.508G>A (p.Glu170Lys) c.*710G>A (n.*710G>A) c.748G>A (p.Glu250Lys) c.*575G>A (n.*575G>A) | |
8 | g.43122614G>C | CA371122668 | POMK | c.790G>C (p.Glu264Gln) c.*586G>C (n.*586G>C) c.508G>C (p.Glu170Gln) c.*710G>C (n.*710G>C) c.748G>C (p.Glu250Gln) c.*575G>C (n.*575G>C) | |
8 | g.43122614G>T | CA371122669 | POMK | c.790G>T (p.Glu264Ter) c.*586G>T (n.*586G>T) c.508G>T (p.Glu170Ter) c.*710G>T (n.*710G>T) c.748G>T (p.Glu250Ter) c.*575G>T (n.*575G>T) | |
8 | g.43122615A>C | CA371122670 | POMK | c.791A>C (p.Glu264Ala) c.*587A>C (n.*587A>C) c.509A>C (p.Glu170Ala) c.*711A>C (n.*711A>C) c.749A>C (p.Glu250Ala) c.*576A>C (n.*576A>C) | |
8 | g.43122615A>G | CA371122671 | POMK | c.791A>G (p.Glu264Gly) c.*587A>G (n.*587A>G) c.509A>G (p.Glu170Gly) c.*711A>G (n.*711A>G) c.749A>G (p.Glu250Gly) c.*576A>G (n.*576A>G) | gnomAD v4 |
8 | g.43122615A>T | CA371122672 | POMK | c.791A>T (p.Glu264Val) c.*587A>T (n.*587A>T) c.509A>T (p.Glu170Val) c.*711A>T (n.*711A>T) c.749A>T (p.Glu250Val) c.*576A>T (n.*576A>T) | gnomAD v4 |
8 | g.43122615dup | CA2687148499 | POMK | c.791dup (p.Asp265GlyfsTer7) c.*587dup (n.*587dup) c.509dup (p.Asp171GlyfsTer7) c.*711dup (n.*711dup) c.749dup (p.Asp251GlyfsTer7) c.*576dup (n.*576dup) | gnomAD v4 |
8 | g.43122616G>A | CA4736357 | POMK | c.792G>A (p.Glu264=) c.*588G>A (n.*588G>A) c.510G>A (p.Glu170=) c.*712G>A (n.*712G>A) c.750G>A (p.Glu250=) c.*577G>A (n.*577G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43122616G>C | CA371122673 | POMK | c.792G>C (p.Glu264Asp) c.*588G>C (n.*588G>C) c.510G>C (p.Glu170Asp) c.*712G>C (n.*712G>C) c.750G>C (p.Glu250Asp) c.*577G>C (n.*577G>C) | |
8 | g.43122616G= | CA1779747727 | POMK | c.792G= (p.Glu264=) c.*588G= (n.*588G=) c.510G= (p.Glu170=) c.*712G= (n.*712G=) c.750G= (p.Glu250=) c.*577G= (n.*577G=) | |
8 | g.43122616G>T | CA371122674 | POMK | c.792G>T (p.Glu264Asp) c.*588G>T (n.*588G>T) c.510G>T (p.Glu170Asp) c.*712G>T (n.*712G>T) c.750G>T (p.Glu250Asp) c.*577G>T (n.*577G>T) | |
8 | g.43122617G>A | CA371122675 | POMK | c.793G>A (p.Asp265Asn) c.*589G>A (n.*589G>A) c.511G>A (p.Asp171Asn) c.*713G>A (n.*713G>A) c.751G>A (p.Asp251Asn) c.*578G>A (n.*578G>A) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.43122617G>C | CA371122676 | POMK | c.793G>C (p.Asp265His) c.*589G>C (n.*589G>C) c.511G>C (p.Asp171His) c.*713G>C (n.*713G>C) c.751G>C (p.Asp251His) c.*578G>C (n.*578G>C) | |
8 | g.43122617G= | CA1779747732 | POMK | c.793G= (p.Asp265=) c.*589G= (n.*589G=) c.511G= (p.Asp171=) c.*713G= (n.*713G=) c.751G= (p.Asp251=) c.*578G= (n.*578G=) | |
8 | g.43122617G>T | CA371122677 | POMK | c.793G>T (p.Asp265Tyr) c.*589G>T (n.*589G>T) c.511G>T (p.Asp171Tyr) c.*713G>T (n.*713G>T) c.751G>T (p.Asp251Tyr) c.*578G>T (n.*578G>T) | |
8 | g.43122618A>C | CA371122678 | POMK | c.794A>C (p.Asp265Ala) c.*590A>C (n.*590A>C) c.512A>C (p.Asp171Ala) c.*714A>C (n.*714A>C) c.752A>C (p.Asp251Ala) c.*579A>C (n.*579A>C) | |
8 | g.43122618A>G | CA371122680 | POMK | c.794A>G (p.Asp265Gly) c.*590A>G (n.*590A>G) c.512A>G (p.Asp171Gly) c.*714A>G (n.*714A>G) c.752A>G (p.Asp251Gly) c.*579A>G (n.*579A>G) | |
8 | g.43122618A>T | CA371122679 | POMK | c.794A>T (p.Asp265Val) c.*590A>T (n.*590A>T) c.512A>T (p.Asp171Val) c.*714A>T (n.*714A>T) c.752A>T (p.Asp251Val) c.*579A>T (n.*579A>T) | |
8 | g.43122619C>A | CA371122681 | POMK | c.795C>A (p.Asp265Glu) c.*591C>A (n.*591C>A) c.513C>A (p.Asp171Glu) c.*715C>A (n.*715C>A) c.753C>A (p.Asp251Glu) c.*580C>A (n.*580C>A) | dbSNP |
8 | g.43122619C= | CA1779747738 | POMK | c.795C= (p.Asp265=) c.*591C= (n.*591C=) c.513C= (p.Asp171=) c.*715C= (n.*715C=) c.753C= (p.Asp251=) c.*580C= (n.*580C=) | |
8 | g.43122619C>G | CA371122682 | POMK | c.795C>G (p.Asp265Glu) c.*591C>G (n.*591C>G) c.513C>G (p.Asp171Glu) c.*715C>G (n.*715C>G) c.753C>G (p.Asp251Glu) c.*580C>G (n.*580C>G) | |
8 | g.43122619C>T | CA4736358 | POMK | c.795C>T (p.Asp265=) c.*591C>T (n.*591C>T) c.513C>T (p.Asp171=) c.*715C>T (n.*715C>T) c.753C>T (p.Asp251=) c.*580C>T (n.*580C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43122619_43122620delinsCG | CA1779747743 | POMK | c.795_796delinsCG (p.Asp265=) c.*591_*592delinsCG (n.*591_*592delinsCG) c.513_514delinsCG (p.Asp171=) c.*715_*716delinsCG (n.*715_*716delinsCG) c.753_754delinsCG (p.Asp251=) c.*580_*581delinsCG (n.*580_*581delinsCG) | |
8 | g.43122620del | CA1113252712 | POMK | c.796del (p.Val266CysfsTer?) c.*592del (n.*592del) c.514del (p.Val172CysfsTer?) c.*716del (n.*716del) c.754del (p.Val252CysfsTer?) c.*581del (n.*581del) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.43122620G>A | CA4736359 | POMK | c.796G>A (p.Val266Met) c.*592G>A (n.*592G>A) c.514G>A (p.Val172Met) c.*716G>A (n.*716G>A) c.754G>A (p.Val252Met) c.*581G>A (n.*581G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43122620G>C | CA371122683 | POMK | c.796G>C (p.Val266Leu) c.*592G>C (n.*592G>C) c.514G>C (p.Val172Leu) c.*716G>C (n.*716G>C) c.754G>C (p.Val252Leu) c.*581G>C (n.*581G>C) | |
8 | g.43122620G= | CA1779747746 | POMK | c.796G= (p.Val266=) c.*592G= (n.*592G=) c.514G= (p.Val172=) c.*716G= (n.*716G=) c.754G= (p.Val252=) c.*581G= (n.*581G=) | |
8 | g.43122620G>T | CA371122684 | POMK | c.796G>T (p.Val266Leu) c.*592G>T (n.*592G>T) c.514G>T (p.Val172Leu) c.*716G>T (n.*716G>T) c.754G>T (p.Val252Leu) c.*581G>T (n.*581G>T) | |
8 | g.43122621T>A | CA371122685 | POMK | c.797T>A (p.Val266Glu) c.*593T>A (n.*593T>A) c.515T>A (p.Val172Glu) c.*717T>A (n.*717T>A) c.755T>A (p.Val252Glu) c.*582T>A (n.*582T>A) | |
8 | g.43122621T>C | CA371122686 | POMK | c.797T>C (p.Val266Ala) c.*593T>C (n.*593T>C) c.515T>C (p.Val172Ala) c.*717T>C (n.*717T>C) c.755T>C (p.Val252Ala) c.*582T>C (n.*582T>C) | gnomAD v4 |
8 | g.43122621T>G | CA371122687 | POMK | c.797T>G (p.Val266Gly) c.*593T>G (n.*593T>G) c.515T>G (p.Val172Gly) c.*717T>G (n.*717T>G) c.755T>G (p.Val252Gly) c.*582T>G (n.*582T>G) | |
8 | g.43122622G>A | CA460787290 | POMK | c.798G>A (p.Val266=) c.*594G>A (n.*594G>A) c.516G>A (p.Val172=) c.*718G>A (n.*718G>A) c.756G>A (p.Val252=) c.*583G>A (n.*583G>A) | |
8 | g.43122622G>C | CA460787292 | POMK | c.798G>C (p.Val266=) c.*594G>C (n.*594G>C) c.516G>C (p.Val172=) c.*718G>C (n.*718G>C) c.756G>C (p.Val252=) c.*583G>C (n.*583G>C) | |
8 | g.43122622G= | CA1779747748 | POMK | c.798G= (p.Val266=) c.*594G= (n.*594G=) c.516G= (p.Val172=) c.*718G= (n.*718G=) c.756G= (p.Val252=) c.*583G= (n.*583G=) | |
8 | g.43122622G>T | CA460787291 | POMK | c.798G>T (p.Val266=) c.*594G>T (n.*594G>T) c.516G>T (p.Val172=) c.*718G>T (n.*718G>T) c.756G>T (p.Val252=) c.*583G>T (n.*583G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43122623C>A | CA371122688 | POMK | c.799C>A (p.Pro267Thr) c.*595C>A (n.*595C>A) c.517C>A (p.Pro173Thr) c.*719C>A (n.*719C>A) c.757C>A (p.Pro253Thr) c.*584C>A (n.*584C>A) | gnomAD v4 |
8 | g.43122623C>G | CA371122689 | POMK | c.799C>G (p.Pro267Ala) c.*595C>G (n.*595C>G) c.517C>G (p.Pro173Ala) c.*719C>G (n.*719C>G) c.757C>G (p.Pro253Ala) c.*584C>G (n.*584C>G) | |
8 | g.43122623C>T | CA371122690 | POMK | c.799C>T (p.Pro267Ser) c.*595C>T (n.*595C>T) c.517C>T (p.Pro173Ser) c.*719C>T (n.*719C>T) c.757C>T (p.Pro253Ser) c.*584C>T (n.*584C>T) | ClinVar gnomAD v4 |
8 | g.43122624C>A | CA371122693 | POMK | c.800C>A (p.Pro267His) c.*596C>A (n.*596C>A) c.518C>A (p.Pro173His) c.*720C>A (n.*720C>A) c.758C>A (p.Pro253His) c.*585C>A (n.*585C>A) | |
8 | g.43122624C>G | CA371122691 | POMK | c.800C>G (p.Pro267Arg) c.*596C>G (n.*596C>G) c.518C>G (p.Pro173Arg) c.*720C>G (n.*720C>G) c.758C>G (p.Pro253Arg) c.*585C>G (n.*585C>G) | |
8 | g.43122624C>T | CA371122692 | POMK | c.800C>T (p.Pro267Leu) c.*596C>T (n.*596C>T) c.518C>T (p.Pro173Leu) c.*720C>T (n.*720C>T) c.758C>T (p.Pro253Leu) c.*585C>T (n.*585C>T) | |
8 | g.43122625T>A | CA460787296 | POMK | c.801T>A (p.Pro267=) c.*597T>A (n.*597T>A) c.519T>A (p.Pro173=) c.*721T>A (n.*721T>A) c.759T>A (p.Pro253=) c.*586T>A (n.*586T>A) | |
8 | g.43122625T>C | CA460787298 | POMK | c.801T>C (p.Pro267=) c.*597T>C (n.*597T>C) c.519T>C (p.Pro173=) c.*721T>C (n.*721T>C) c.759T>C (p.Pro253=) c.*586T>C (n.*586T>C) | |
8 | g.43122625T>G | CA460787300 | POMK | c.801T>G (p.Pro267=) c.*597T>G (n.*597T>G) c.519T>G (p.Pro173=) c.*721T>G (n.*721T>G) c.759T>G (p.Pro253=) c.*586T>G (n.*586T>G) | |
8 | g.43122627del | CA2579158817 | POMK | c.803del (p.Phe268SerfsTer?) c.*599del (n.*599del) c.521del (p.Phe174SerfsTer?) c.*723del (n.*723del) c.761del (p.Phe254SerfsTer?) c.*588del (n.*588del) | ClinVar |
8 | g.43122626T>A | CA371122694 | POMK | c.802T>A (p.Phe268Ile) c.*598T>A (n.*598T>A) c.520T>A (p.Phe174Ile) c.*722T>A (n.*722T>A) c.760T>A (p.Phe254Ile) c.*587T>A (n.*587T>A) | |
8 | g.43122626T>C | CA371122695 | POMK | c.802T>C (p.Phe268Leu) c.*598T>C (n.*598T>C) c.520T>C (p.Phe174Leu) c.*722T>C (n.*722T>C) c.760T>C (p.Phe254Leu) c.*587T>C (n.*587T>C) | |
8 | g.43122626T>G | CA371122696 | POMK | c.802T>G (p.Phe268Val) c.*598T>G (n.*598T>G) c.520T>G (p.Phe174Val) c.*722T>G (n.*722T>G) c.760T>G (p.Phe254Val) c.*587T>G (n.*587T>G) | |
8 | g.43122627T>A | CA371122697 | POMK | c.803T>A (p.Phe268Tyr) c.*599T>A (n.*599T>A) c.521T>A (p.Phe174Tyr) c.*723T>A (n.*723T>A) c.761T>A (p.Phe254Tyr) c.*588T>A (n.*588T>A) | |
8 | g.43122627T>C | CA371122698 | POMK | c.803T>C (p.Phe268Ser) c.*599T>C (n.*599T>C) c.521T>C (p.Phe174Ser) c.*723T>C (n.*723T>C) c.761T>C (p.Phe254Ser) c.*588T>C (n.*588T>C) | gnomAD v4 |
8 | g.43122627T>G | CA371122699 | POMK | c.803T>G (p.Phe268Cys) c.*599T>G (n.*599T>G) c.521T>G (p.Phe174Cys) c.*723T>G (n.*723T>G) c.761T>G (p.Phe254Cys) c.*588T>G (n.*588T>G) | |
8 | g.43122628C>A | CA371122700 | POMK | c.804C>A (p.Phe268Leu) c.*600C>A (n.*600C>A) c.522C>A (p.Phe174Leu) c.*724C>A (n.*724C>A) c.762C>A (p.Phe254Leu) c.*589C>A (n.*589C>A) | |
8 | g.43122628C>G | CA371122701 | POMK | c.804C>G (p.Phe268Leu) c.*600C>G (n.*600C>G) c.522C>G (p.Phe174Leu) c.*724C>G (n.*724C>G) c.762C>G (p.Phe254Leu) c.*589C>G (n.*589C>G) | |
8 | g.43122628C>T | CA460787306 | POMK | c.804C>T (p.Phe268=) c.*600C>T (n.*600C>T) c.522C>T (p.Phe174=) c.*724C>T (n.*724C>T) c.762C>T (p.Phe254=) c.*589C>T (n.*589C>T) | ClinVar gnomAD v4 |
8 | g.43122629C>A | CA371122702 | POMK | c.805C>A (p.His269Asn) c.*601C>A (n.*601C>A) c.523C>A (p.His175Asn) c.*725C>A (n.*725C>A) c.763C>A (p.His255Asn) c.*590C>A (n.*590C>A) | |
8 | g.43122629C>G | CA371122703 | POMK | c.805C>G (p.His269Asp) c.*601C>G (n.*601C>G) c.523C>G (p.His175Asp) c.*725C>G (n.*725C>G) c.763C>G (p.His255Asp) c.*590C>G (n.*590C>G) | gnomAD v4 |
8 | g.43122629C>T | CA371122704 | POMK | c.805C>T (p.His269Tyr) c.*601C>T (n.*601C>T) c.523C>T (p.His175Tyr) c.*725C>T (n.*725C>T) c.763C>T (p.His255Tyr) c.*590C>T (n.*590C>T) | |
8 | g.43122630A= | CA1779747751 | POMK | c.806A= (p.His269=) c.*602A= (n.*602A=) c.524A= (p.His175=) c.*726A= (n.*726A=) c.764A= (p.His255=) c.*591A= (n.*591A=) | |
8 | g.43122630A>C | CA371122707 | POMK | c.806A>C (p.His269Pro) c.*602A>C (n.*602A>C) c.524A>C (p.His175Pro) c.*726A>C (n.*726A>C) c.764A>C (p.His255Pro) c.*591A>C (n.*591A>C) | |
8 | g.43122630A>G | CA371122706 | POMK | c.806A>G (p.His269Arg) c.*602A>G (n.*602A>G) c.524A>G (p.His175Arg) c.*726A>G (n.*726A>G) c.764A>G (p.His255Arg) c.*591A>G (n.*591A>G) | dbSNP |
8 | g.43122630A>T | CA371122705 | POMK | c.806A>T (p.His269Leu) c.*602A>T (n.*602A>T) c.524A>T (p.His175Leu) c.*726A>T (n.*726A>T) c.764A>T (p.His255Leu) c.*591A>T (n.*591A>T) | |
8 | g.43122631C>A | CA371122708 | POMK | c.807C>A (p.His269Gln) c.*603C>A (n.*603C>A) c.525C>A (p.His175Gln) c.*727C>A (n.*727C>A) c.765C>A (p.His255Gln) c.*592C>A (n.*592C>A) | |
8 | g.43122631C= | CA1779747754 | POMK | c.807C= (p.His269=) c.*603C= (n.*603C=) c.525C= (p.His175=) c.*727C= (n.*727C=) c.765C= (p.His255=) c.*592C= (n.*592C=) | |
8 | g.43122631C>G | CA371122709 | POMK | c.807C>G (p.His269Gln) c.*603C>G (n.*603C>G) c.525C>G (p.His175Gln) c.*727C>G (n.*727C>G) c.765C>G (p.His255Gln) c.*592C>G (n.*592C>G) | |
8 | g.43122631C>T | CA4736360 | POMK | c.807C>T (p.His269=) c.*603C>T (n.*603C>T) c.525C>T (p.His175=) c.*727C>T (n.*727C>T) c.765C>T (p.His255=) c.*592C>T (n.*592C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
8 | g.43122632G>A | CA371122710 | POMK | c.808G>A (p.Asp270Asn) c.*604G>A (n.*604G>A) c.526G>A (p.Asp176Asn) c.*728G>A (n.*728G>A) c.766G>A (p.Asp256Asn) c.*593G>A (n.*593G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.43122632G>C | CA371122712 | POMK | c.808G>C (p.Asp270His) c.*604G>C (n.*604G>C) c.526G>C (p.Asp176His) c.*728G>C (n.*728G>C) c.766G>C (p.Asp256His) c.*593G>C (n.*593G>C) | ClinVar |
8 | g.43122632G= | CA1779747760 | POMK | c.808G= (p.Asp270=) c.*604G= (n.*604G=) c.526G= (p.Asp176=) c.*728G= (n.*728G=) c.766G= (p.Asp256=) c.*593G= (n.*593G=) | |
8 | g.43122632G>T | CA371122711 | POMK | c.808G>T (p.Asp270Tyr) c.*604G>T (n.*604G>T) c.526G>T (p.Asp176Tyr) c.*728G>T (n.*728G>T) c.766G>T (p.Asp256Tyr) c.*593G>T (n.*593G>T) | |
8 | g.43122633A>C | CA371122713 | POMK | c.809A>C (p.Asp270Ala) c.*605A>C (n.*605A>C) c.527A>C (p.Asp176Ala) c.*729A>C (n.*729A>C) c.767A>C (p.Asp256Ala) c.*594A>C (n.*594A>C) | |
8 | g.43122633A>G | CA371122714 | POMK | c.809A>G (p.Asp270Gly) c.*605A>G (n.*605A>G) c.527A>G (p.Asp176Gly) c.*729A>G (n.*729A>G) c.767A>G (p.Asp256Gly) c.*594A>G (n.*594A>G) | gnomAD v4 |
8 | g.43122633A>T | CA371122715 | POMK | c.809A>T (p.Asp270Val) c.*605A>T (n.*605A>T) c.527A>T (p.Asp176Val) c.*729A>T (n.*729A>T) c.767A>T (p.Asp256Val) c.*594A>T (n.*594A>T) | |
8 | g.43122634T>A | CA371122716 | POMK | c.810T>A (p.Asp270Glu) c.*606T>A (n.*606T>A) c.528T>A (p.Asp176Glu) c.*730T>A (n.*730T>A) c.768T>A (p.Asp256Glu) c.*595T>A (n.*595T>A) | |
8 | g.43122634T>C | CA460787310 | POMK | c.810T>C (p.Asp270=) c.*606T>C (n.*606T>C) c.528T>C (p.Asp176=) c.*730T>C (n.*730T>C) c.768T>C (p.Asp256=) c.*595T>C (n.*595T>C) | |
8 | g.43122634T>G | CA371122717 | POMK | c.810T>G (p.Asp270Glu) c.*606T>G (n.*606T>G) c.528T>G (p.Asp176Glu) c.*730T>G (n.*730T>G) c.768T>G (p.Asp256Glu) c.*595T>G (n.*595T>G) | |
8 | g.43122635G>A | CA371122718 | POMK | c.811G>A (p.Asp271Asn) c.*607G>A (n.*607G>A) c.529G>A (p.Asp177Asn) c.*731G>A (n.*731G>A) c.769G>A (p.Asp257Asn) c.*596G>A (n.*596G>A) | |
8 | g.43122635G>C | CA371122719 | POMK | c.811G>C (p.Asp271His) c.*607G>C (n.*607G>C) c.529G>C (p.Asp177His) c.*731G>C (n.*731G>C) c.769G>C (p.Asp257His) c.*596G>C (n.*596G>C) | |
8 | g.43122635G>T | CA371122720 | POMK | c.811G>T (p.Asp271Tyr) c.*607G>T (n.*607G>T) c.529G>T (p.Asp177Tyr) c.*731G>T (n.*731G>T) c.769G>T (p.Asp257Tyr) c.*596G>T (n.*596G>T) | |
8 | g.43122636A= | CA1779747762 | POMK | c.812A= (p.Asp271=) c.*608A= (n.*608A=) c.530A= (p.Asp177=) c.*732A= (n.*732A=) c.770A= (p.Asp257=) c.*597A= (n.*597A=) | |
8 | g.43122636A>C | CA371122721 | POMK | c.812A>C (p.Asp271Ala) c.*608A>C (n.*608A>C) c.530A>C (p.Asp177Ala) c.*732A>C (n.*732A>C) c.770A>C (p.Asp257Ala) c.*597A>C (n.*597A>C) | |
8 | g.43122636A>G | CA371122722 | POMK | c.812A>G (p.Asp271Gly) c.*608A>G (n.*608A>G) c.530A>G (p.Asp177Gly) c.*732A>G (n.*732A>G) c.770A>G (p.Asp257Gly) c.*597A>G (n.*597A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43122636A>T | CA371122723 | POMK | c.812A>T (p.Asp271Val) c.*608A>T (n.*608A>T) c.530A>T (p.Asp177Val) c.*732A>T (n.*732A>T) c.770A>T (p.Asp257Val) c.*597A>T (n.*597A>T) | |
8 | g.43122637T>A | CA371122724 | POMK | c.813T>A (p.Asp271Glu) c.*609T>A (n.*609T>A) c.531T>A (p.Asp177Glu) c.*733T>A (n.*733T>A) c.771T>A (p.Asp257Glu) c.*598T>A (n.*598T>A) | |
8 | g.43122637T>C | CA460787311 | POMK | c.813T>C (p.Asp271=) c.*609T>C (n.*609T>C) c.531T>C (p.Asp177=) c.*733T>C (n.*733T>C) c.771T>C (p.Asp257=) c.*598T>C (n.*598T>C) | |
8 | g.43122637T>G | CA371122725 | POMK | c.813T>G (p.Asp271Glu) c.*609T>G (n.*609T>G) c.531T>G (p.Asp177Glu) c.*733T>G (n.*733T>G) c.771T>G (p.Asp257Glu) c.*598T>G (n.*598T>G) | |
8 | g.43122638C>A | CA371122728 | POMK | c.814C>A (p.Leu272Ile) c.*610C>A (n.*610C>A) c.532C>A (p.Leu178Ile) c.*734C>A (n.*734C>A) c.772C>A (p.Leu258Ile) c.*599C>A (n.*599C>A) | |
8 | g.43122638C= | CA1779747769 | POMK | c.814C= (p.Leu272=) c.*610C= (n.*610C=) c.532C= (p.Leu178=) c.*734C= (n.*734C=) c.772C= (p.Leu258=) c.*599C= (n.*599C=) | |
8 | g.43122638C>G | CA371122726 | POMK | c.814C>G (p.Leu272Val) c.*610C>G (n.*610C>G) c.532C>G (p.Leu178Val) c.*734C>G (n.*734C>G) c.772C>G (p.Leu258Val) c.*599C>G (n.*599C>G) | dbSNP gnomAD v4 |
8 | g.43122638C>T | CA371122727 | POMK | c.814C>T (p.Leu272Phe) c.*610C>T (n.*610C>T) c.532C>T (p.Leu178Phe) c.*734C>T (n.*734C>T) c.772C>T (p.Leu258Phe) c.*599C>T (n.*599C>T) | |
8 | g.43122639T>A | CA371122729 | POMK | c.815T>A (p.Leu272His) c.*611T>A (n.*611T>A) c.533T>A (p.Leu178His) c.*735T>A (n.*735T>A) c.773T>A (p.Leu258His) c.*600T>A (n.*600T>A) | gnomAD v4 |
8 | g.43122639T>C | CA371122730 | POMK | c.815T>C (p.Leu272Pro) c.*611T>C (n.*611T>C) c.533T>C (p.Leu178Pro) c.*735T>C (n.*735T>C) c.773T>C (p.Leu258Pro) c.*600T>C (n.*600T>C) | |
8 | g.43122639T>G | CA371122731 | POMK | c.815T>G (p.Leu272Arg) c.*611T>G (n.*611T>G) c.533T>G (p.Leu178Arg) c.*735T>G (n.*735T>G) c.773T>G (p.Leu258Arg) c.*600T>G (n.*600T>G) | |
8 | g.43122640C>A | CA460787315 | POMK | c.816C>A (p.Leu272=) c.*612C>A (n.*612C>A) c.534C>A (p.Leu178=) c.*736C>A (n.*736C>A) c.774C>A (p.Leu258=) c.*601C>A (n.*601C>A) | |
8 | g.43122640C>G | CA460787316 | POMK | c.816C>G (p.Leu272=) c.*612C>G (n.*612C>G) c.534C>G (p.Leu178=) c.*736C>G (n.*736C>G) c.774C>G (p.Leu258=) c.*601C>G (n.*601C>G) | |
8 | g.43122640C>T | CA460787318 | POMK | c.816C>T (p.Leu272=) c.*612C>T (n.*612C>T) c.534C>T (p.Leu178=) c.*736C>T (n.*736C>T) c.774C>T (p.Leu258=) c.*601C>T (n.*601C>T) | |
8 | g.43122641A= | CA1779747773 | POMK | c.817A= (p.Met273=) c.*613A= (n.*613A=) c.535A= (p.Met179=) c.*737A= (n.*737A=) c.775A= (p.Met259=) c.*602A= (n.*602A=) | |
8 | g.43122641A>C | CA371122732 | POMK | c.817A>C (p.Met273Leu) c.*613A>C (n.*613A>C) c.535A>C (p.Met179Leu) c.*737A>C (n.*737A>C) c.775A>C (p.Met259Leu) c.*602A>C (n.*602A>C) | dbSNP gnomAD v4 |
8 | g.43122641A>G | CA371122733 | POMK | c.817A>G (p.Met273Val) c.*613A>G (n.*613A>G) c.535A>G (p.Met179Val) c.*737A>G (n.*737A>G) c.775A>G (p.Met259Val) c.*602A>G (n.*602A>G) | gnomAD v4 |
8 | g.43122641A>T | CA371122734 | POMK | c.817A>T (p.Met273Leu) c.*613A>T (n.*613A>T) c.535A>T (p.Met179Leu) c.*737A>T (n.*737A>T) c.775A>T (p.Met259Leu) c.*602A>T (n.*602A>T) | ClinVar dbSNP |
8 | g.43122642T>A | CA371122735 | POMK | c.818T>A (p.Met273Lys) c.*614T>A (n.*614T>A) c.536T>A (p.Met179Lys) c.*738T>A (n.*738T>A) c.776T>A (p.Met259Lys) c.*603T>A (n.*603T>A) | |
8 | g.43122642T>C | CA371122736 | POMK | c.818T>C (p.Met273Thr) c.*614T>C (n.*614T>C) c.536T>C (p.Met179Thr) c.*738T>C (n.*738T>C) c.776T>C (p.Met259Thr) c.*603T>C (n.*603T>C) | |
8 | g.43122642T>G | CA371122737 | POMK | c.818T>G (p.Met273Arg) c.*614T>G (n.*614T>G) c.536T>G (p.Met179Arg) c.*738T>G (n.*738T>G) c.776T>G (p.Met259Arg) c.*603T>G (n.*603T>G) | |
8 | g.43122643G>A | CA371122738 | POMK | c.819G>A (p.Met273Ile) c.*615G>A (n.*615G>A) c.537G>A (p.Met179Ile) c.*739G>A (n.*739G>A) c.777G>A (p.Met259Ile) c.*604G>A (n.*604G>A) | gnomAD v4 |
8 | g.43122643G>C | CA371122739 | POMK | c.819G>C (p.Met273Ile) c.*615G>C (n.*615G>C) c.537G>C (p.Met179Ile) c.*739G>C (n.*739G>C) c.777G>C (p.Met259Ile) c.*604G>C (n.*604G>C) | |
8 | g.43122643G>T | CA371122740 | POMK | c.819G>T (p.Met273Ile) c.*615G>T (n.*615G>T) c.537G>T (p.Met179Ile) c.*739G>T (n.*739G>T) c.777G>T (p.Met259Ile) c.*604G>T (n.*604G>T) | |
8 | g.43122644C>A | CA371122741 | POMK | c.820C>A (p.Pro274Thr) c.*616C>A (n.*616C>A) c.538C>A (p.Pro180Thr) c.*740C>A (n.*740C>A) c.778C>A (p.Pro260Thr) c.*605C>A (n.*605C>A) | |
8 | g.43122644C= | CA1779747776 | POMK | c.820C= (p.Pro274=) c.*616C= (n.*616C=) c.538C= (p.Pro180=) c.*740C= (n.*740C=) c.778C= (p.Pro260=) c.*605C= (n.*605C=) | |
8 | g.43122644C>G | CA371122742 | POMK | c.820C>G (p.Pro274Ala) c.*616C>G (n.*616C>G) c.538C>G (p.Pro180Ala) c.*740C>G (n.*740C>G) c.778C>G (p.Pro260Ala) c.*605C>G (n.*605C>G) | |
8 | g.43122644C>T | CA176080596 | POMK | c.820C>T (p.Pro274Ser) c.*616C>T (n.*616C>T) c.538C>T (p.Pro180Ser) c.*740C>T (n.*740C>T) c.778C>T (p.Pro260Ser) c.*605C>T (n.*605C>T) | dbSNP |
8 | g.43122645C>A | CA371122743 | POMK | c.821C>A (p.Pro274His) c.*617C>A (n.*617C>A) c.539C>A (p.Pro180His) c.*741C>A (n.*741C>A) c.779C>A (p.Pro260His) c.*606C>A (n.*606C>A) | gnomAD v4 |
8 | g.43122645C>G | CA371122744 | POMK | c.821C>G (p.Pro274Arg) c.*617C>G (n.*617C>G) c.539C>G (p.Pro180Arg) c.*741C>G (n.*741C>G) c.779C>G (p.Pro260Arg) c.*606C>G (n.*606C>G) | |
8 | g.43122645C>T | CA371122745 | POMK | c.821C>T (p.Pro274Leu) c.*617C>T (n.*617C>T) c.539C>T (p.Pro180Leu) c.*741C>T (n.*741C>T) c.779C>T (p.Pro260Leu) c.*606C>T (n.*606C>T) | gnomAD v4 |
8 | g.43122646C>A | CA460787321 | POMK | c.822C>A (p.Pro274=) c.*618C>A (n.*618C>A) c.540C>A (p.Pro180=) c.*742C>A (n.*742C>A) c.780C>A (p.Pro260=) c.*607C>A (n.*607C>A) | |
8 | g.43122646C= | CA1779747780 | POMK | c.822C= (p.Pro274=) c.*618C= (n.*618C=) c.540C= (p.Pro180=) c.*742C= (n.*742C=) c.780C= (p.Pro260=) c.*607C= (n.*607C=) | |
8 | g.43122646C>G | CA460787322 | POMK | c.822C>G (p.Pro274=) c.*618C>G (n.*618C>G) c.540C>G (p.Pro180=) c.*742C>G (n.*742C>G) c.780C>G (p.Pro260=) c.*607C>G (n.*607C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.43122646C>T | CA460787323 | POMK | c.822C>T (p.Pro274=) c.*618C>T (n.*618C>T) c.540C>T (p.Pro180=) c.*742C>T (n.*742C>T) c.780C>T (p.Pro260=) c.*607C>T (n.*607C>T) | ClinVar |
8 | g.43122647T>A | CA371122746 | POMK | c.823T>A (p.Ser275Thr) c.*619T>A (n.*619T>A) c.541T>A (p.Ser181Thr) c.*743T>A (n.*743T>A) c.781T>A (p.Ser261Thr) c.*608T>A (n.*608T>A) | |
8 | g.43122647T>C | CA371122747 | POMK | c.823T>C (p.Ser275Pro) c.*619T>C (n.*619T>C) c.541T>C (p.Ser181Pro) c.*743T>C (n.*743T>C) c.781T>C (p.Ser261Pro) c.*608T>C (n.*608T>C) | gnomAD v4 |
8 | g.43122647T>G | CA371122748 | POMK | c.823T>G (p.Ser275Ala) c.*619T>G (n.*619T>G) c.541T>G (p.Ser181Ala) c.*743T>G (n.*743T>G) c.781T>G (p.Ser261Ala) c.*608T>G (n.*608T>G) | |
8 | g.43122647_43122652del | CA2779904289 | POMK | c.823_828del (p.Ser275_Tyr276del) c.*619_*624del (n.*619_*624del) c.541_546del (p.Ser181_Tyr182del) c.*743_*748del (n.*743_*748del) c.781_786del (p.Ser261_Tyr262del) c.*608_*613del (n.*608_*613del) | |
8 | g.43122648C>A | CA371122749 | POMK | c.824C>A (p.Ser275Ter) c.*620C>A (n.*620C>A) c.542C>A (p.Ser181Ter) c.*744C>A (n.*744C>A) c.782C>A (p.Ser261Ter) c.*609C>A (n.*609C>A) | |
8 | g.43122648C>G | CA371122750 | POMK | c.824C>G (p.Ser275Ter) c.*620C>G (n.*620C>G) c.542C>G (p.Ser181Ter) c.*744C>G (n.*744C>G) c.782C>G (p.Ser261Ter) c.*609C>G (n.*609C>G) | |
8 | g.43122648C>T | CA371122751 | POMK | c.824C>T (p.Ser275Leu) c.*620C>T (n.*620C>T) c.542C>T (p.Ser181Leu) c.*744C>T (n.*744C>T) c.782C>T (p.Ser261Leu) c.*609C>T (n.*609C>T) | |
8 | g.43122649A= | CA1779747784 | POMK | c.825A= (p.Ser275=) c.*621A= (n.*621A=) c.543A= (p.Ser181=) c.*745A= (n.*745A=) c.783A= (p.Ser261=) c.*610A= (n.*610A=) | |
8 | g.43122649A>C | CA460787324 | POMK | c.825A>C (p.Ser275=) c.*621A>C (n.*621A>C) c.543A>C (p.Ser181=) c.*745A>C (n.*745A>C) c.783A>C (p.Ser261=) c.*610A>C (n.*610A>C) | dbSNP gnomAD v2 |
8 | g.43122649A>G | CA460787325 | POMK | c.825A>G (p.Ser275=) c.*621A>G (n.*621A>G) c.543A>G (p.Ser181=) c.*745A>G (n.*745A>G) c.783A>G (p.Ser261=) c.*610A>G (n.*610A>G) | gnomAD v4 |
8 | g.43122649A>T | CA460787327 | POMK | c.825A>T (p.Ser275=) c.*621A>T (n.*621A>T) c.543A>T (p.Ser181=) c.*745A>T (n.*745A>T) c.783A>T (p.Ser261=) c.*610A>T (n.*610A>T) | ClinVar |
8 | g.43122650T>A | CA371122752 | POMK | c.826T>A (p.Tyr276Asn) c.*622T>A (n.*622T>A) c.544T>A (p.Tyr182Asn) c.*746T>A (n.*746T>A) c.784T>A (p.Tyr262Asn) c.*611T>A (n.*611T>A) | |
8 | g.43122650T>C | CA371122753 | POMK | c.826T>C (p.Tyr276His) c.*622T>C (n.*622T>C) c.544T>C (p.Tyr182His) c.*746T>C (n.*746T>C) c.784T>C (p.Tyr262His) c.*611T>C (n.*611T>C) | |
8 | g.43122650T>G | CA371122754 | POMK | c.826T>G (p.Tyr276Asp) c.*622T>G (n.*622T>G) c.544T>G (p.Tyr182Asp) c.*746T>G (n.*746T>G) c.784T>G (p.Tyr262Asp) c.*611T>G (n.*611T>G) | gnomAD v4 |
8 | g.43122651A= | CA1779747790 | POMK | c.827A= (p.Tyr276=) c.*623A= (n.*623A=) c.545A= (p.Tyr182=) c.*747A= (n.*747A=) c.785A= (p.Tyr262=) c.*612A= (n.*612A=) | |
8 | g.43122651A>C | CA371122755 | POMK | c.827A>C (p.Tyr276Ser) c.*623A>C (n.*623A>C) c.545A>C (p.Tyr182Ser) c.*747A>C (n.*747A>C) c.785A>C (p.Tyr262Ser) c.*612A>C (n.*612A>C) | |
8 | g.43122651A>G | CA371122757 | POMK | c.827A>G (p.Tyr276Cys) c.*623A>G (n.*623A>G) c.545A>G (p.Tyr182Cys) c.*747A>G (n.*747A>G) c.785A>G (p.Tyr262Cys) c.*612A>G (n.*612A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.43122651A>T | CA371122756 | POMK | c.827A>T (p.Tyr276Phe) c.*623A>T (n.*623A>T) c.545A>T (p.Tyr182Phe) c.*747A>T (n.*747A>T) c.785A>T (p.Tyr262Phe) c.*612A>T (n.*612A>T) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.43122652T>A | CA371122758 | POMK | c.828T>A (p.Tyr276Ter) c.*624T>A (n.*624T>A) c.546T>A (p.Tyr182Ter) c.*748T>A (n.*748T>A) c.786T>A (p.Tyr262Ter) c.*613T>A (n.*613T>A) | |
8 | g.43122652T>C | CA460787334 | POMK | c.828T>C (p.Tyr276=) c.*624T>C (n.*624T>C) c.546T>C (p.Tyr182=) c.*748T>C (n.*748T>C) c.786T>C (p.Tyr262=) c.*613T>C (n.*613T>C) | |
8 | g.43122652T>G | CA371122759 | POMK | c.828T>G (p.Tyr276Ter) c.*624T>G (n.*624T>G) c.546T>G (p.Tyr182Ter) c.*748T>G (n.*748T>G) c.786T>G (p.Tyr262Ter) c.*613T>G (n.*613T>G) | |
8 | g.43122653G>A | CA371122760 | POMK | c.829G>A (p.Asp277Asn) c.*625G>A (n.*625G>A) c.547G>A (p.Asp183Asn) c.*749G>A (n.*749G>A) c.787G>A (p.Asp263Asn) c.*614G>A (n.*614G>A) | |
8 | g.43122653G>C | CA371122761 | POMK | c.829G>C (p.Asp277His) c.*625G>C (n.*625G>C) c.547G>C (p.Asp183His) c.*749G>C (n.*749G>C) c.787G>C (p.Asp263His) c.*614G>C (n.*614G>C) | |
8 | g.43122653G>T | CA371122762 | POMK | c.829G>T (p.Asp277Tyr) c.*625G>T (n.*625G>T) c.547G>T (p.Asp183Tyr) c.*749G>T (n.*749G>T) c.787G>T (p.Asp263Tyr) c.*614G>T (n.*614G>T) | |
8 | g.43122654A= | CA1779747793 | POMK | c.830A= (p.Asp277=) c.*626A= (n.*626A=) c.548A= (p.Asp183=) c.*750A= (n.*750A=) c.788A= (p.Asp263=) c.*615A= (n.*615A=) | |
8 | g.43122654A>C | CA371122763 | POMK | c.830A>C (p.Asp277Ala) c.*626A>C (n.*626A>C) c.548A>C (p.Asp183Ala) c.*750A>C (n.*750A>C) c.788A>C (p.Asp263Ala) c.*615A>C (n.*615A>C) | |
8 | g.43122654A>G | CA371122764 | POMK | c.830A>G (p.Asp277Gly) c.*626A>G (n.*626A>G) c.548A>G (p.Asp183Gly) c.*750A>G (n.*750A>G) c.788A>G (p.Asp263Gly) c.*615A>G (n.*615A>G) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.43122654A>T | CA371122765 | POMK | c.830A>T (p.Asp277Val) c.*626A>T (n.*626A>T) c.548A>T (p.Asp183Val) c.*750A>T (n.*750A>T) c.788A>T (p.Asp263Val) c.*615A>T (n.*615A>T) | |
8 | g.43122655T>A | CA371122766 | POMK | c.831T>A (p.Asp277Glu) c.*627T>A (n.*627T>A) c.549T>A (p.Asp183Glu) c.*751T>A (n.*751T>A) c.789T>A (p.Asp263Glu) c.*616T>A (n.*616T>A) | |
8 | g.43122655T>C | CA460787337 | POMK | c.831T>C (p.Asp277=) c.*627T>C (n.*627T>C) c.549T>C (p.Asp183=) c.*751T>C (n.*751T>C) c.789T>C (p.Asp263=) c.*616T>C (n.*616T>C) | |
8 | g.43122655T>G | CA371122767 | POMK | c.831T>G (p.Asp277Glu) c.*627T>G (n.*627T>G) c.549T>G (p.Asp183Glu) c.*751T>G (n.*751T>G) c.789T>G (p.Asp263Glu) c.*616T>G (n.*616T>G) | gnomAD v4 |
8 | g.43122656G>A | CA371122769 | POMK | c.832G>A (p.Glu278Lys) c.*628G>A (n.*628G>A) c.550G>A (p.Glu184Lys) c.*752G>A (n.*752G>A) c.790G>A (p.Glu264Lys) c.*617G>A (n.*617G>A) | |
8 | g.43122656G>C | CA371122770 | POMK | c.832G>C (p.Glu278Gln) c.*628G>C (n.*628G>C) c.550G>C (p.Glu184Gln) c.*752G>C (n.*752G>C) c.790G>C (p.Glu264Gln) c.*617G>C (n.*617G>C) | |
8 | g.43122656G>T | CA371122768 | POMK | c.832G>T (p.Glu278Ter) c.*628G>T (n.*628G>T) c.550G>T (p.Glu184Ter) c.*752G>T (n.*752G>T) c.790G>T (p.Glu264Ter) c.*617G>T (n.*617G>T) | |
8 | g.43122657A= | CA1779747796 | POMK | c.833A= (p.Glu278=) c.*629A= (n.*629A=) c.551A= (p.Glu184=) c.*753A= (n.*753A=) c.791A= (p.Glu264=) c.*618A= (n.*618A=) | |
8 | g.43122657A>C | CA371122772 | POMK | c.833A>C (p.Glu278Ala) c.*629A>C (n.*629A>C) c.551A>C (p.Glu184Ala) c.*753A>C (n.*753A>C) c.791A>C (p.Glu264Ala) c.*618A>C (n.*618A>C) | |
8 | g.43122657A>G | CA4736361 | POMK | c.833A>G (p.Glu278Gly) c.*629A>G (n.*629A>G) c.551A>G (p.Glu184Gly) c.*753A>G (n.*753A>G) c.791A>G (p.Glu264Gly) c.*618A>G (n.*618A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43122657A>T | CA371122771 | POMK | c.833A>T (p.Glu278Val) c.*629A>T (n.*629A>T) c.551A>T (p.Glu184Val) c.*753A>T (n.*753A>T) c.791A>T (p.Glu264Val) c.*618A>T (n.*618A>T) | |
8 | g.43122658G>A | CA460787341 | POMK | c.834G>A (p.Glu278=) c.*630G>A (n.*630G>A) c.552G>A (p.Glu184=) c.*754G>A (n.*754G>A) c.792G>A (p.Glu264=) c.*619G>A (n.*619G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43122658G>C | CA371122773 | POMK | c.834G>C (p.Glu278Asp) c.*630G>C (n.*630G>C) c.552G>C (p.Glu184Asp) c.*754G>C (n.*754G>C) c.792G>C (p.Glu264Asp) c.*619G>C (n.*619G>C) | |
8 | g.43122658G= | CA1779747801 | POMK | c.834G= (p.Glu278=) c.*630G= (n.*630G=) c.552G= (p.Glu184=) c.*754G= (n.*754G=) c.792G= (p.Glu264=) c.*619G= (n.*619G=) | |
8 | g.43122658G>T | CA371122774 | POMK | c.834G>T (p.Glu278Asp) c.*630G>T (n.*630G>T) c.552G>T (p.Glu184Asp) c.*754G>T (n.*754G>T) c.792G>T (p.Glu264Asp) c.*619G>T (n.*619G>T) | |
8 | g.43122659A>C | CA371122775 | POMK | c.835A>C (p.Lys279Gln) c.*631A>C (n.*631A>C) c.553A>C (p.Lys185Gln) c.*755A>C (n.*755A>C) c.793A>C (p.Lys265Gln) c.*620A>C (n.*620A>C) | |
8 | g.43122659A>G | CA371122776 | POMK | c.835A>G (p.Lys279Glu) c.*631A>G (n.*631A>G) c.553A>G (p.Lys185Glu) c.*755A>G (n.*755A>G) c.793A>G (p.Lys265Glu) c.*620A>G (n.*620A>G) | |
8 | g.43122659A>T | CA371122777 | POMK | c.835A>T (p.Lys279Ter) c.*631A>T (n.*631A>T) c.553A>T (p.Lys185Ter) c.*755A>T (n.*755A>T) c.793A>T (p.Lys265Ter) c.*620A>T (n.*620A>T) | |
8 | g.43122660A>C | CA371122778 | POMK | c.836A>C (p.Lys279Thr) c.*632A>C (n.*632A>C) c.554A>C (p.Lys185Thr) c.*756A>C (n.*756A>C) c.794A>C (p.Lys265Thr) c.*621A>C (n.*621A>C) | |
8 | g.43122660A>G | CA371122779 | POMK | c.836A>G (p.Lys279Arg) c.*632A>G (n.*632A>G) c.554A>G (p.Lys185Arg) c.*756A>G (n.*756A>G) c.794A>G (p.Lys265Arg) c.*621A>G (n.*621A>G) | |
8 | g.43122660A>T | CA371122780 | POMK | c.836A>T (p.Lys279Met) c.*632A>T (n.*632A>T) c.554A>T (p.Lys185Met) c.*756A>T (n.*756A>T) c.794A>T (p.Lys265Met) c.*621A>T (n.*621A>T) | |
8 | g.43122661G>A | CA460787343 | POMK | c.837G>A (p.Lys279=) c.*633G>A (n.*633G>A) c.555G>A (p.Lys185=) c.*757G>A (n.*757G>A) c.795G>A (p.Lys265=) c.*622G>A (n.*622G>A) | |
8 | g.43122661G>C | CA371122781 | POMK | c.837G>C (p.Lys279Asn) c.*633G>C (n.*633G>C) c.555G>C (p.Lys185Asn) c.*757G>C (n.*757G>C) c.795G>C (p.Lys265Asn) c.*622G>C (n.*622G>C) | |
8 | g.43122661G>T | CA371122782 | POMK | c.837G>T (p.Lys279Asn) c.*633G>T (n.*633G>T) c.555G>T (p.Lys185Asn) c.*757G>T (n.*757G>T) c.795G>T (p.Lys265Asn) c.*622G>T (n.*622G>T) | |
8 | g.43122662A= | CA1779747803 | POMK | c.838A= (p.Ile280=) c.*634A= (n.*634A=) c.556A= (p.Ile186=) c.*758A= (n.*758A=) c.796A= (p.Ile266=) c.*623A= (n.*623A=) | |
8 | g.43122662A>C | CA371122785 | POMK | c.838A>C (p.Ile280Leu) c.*634A>C (n.*634A>C) c.556A>C (p.Ile186Leu) c.*758A>C (n.*758A>C) c.796A>C (p.Ile266Leu) c.*623A>C (n.*623A>C) | |
8 | g.43122662A>G | CA371122784 | POMK | c.838A>G (p.Ile280Val) c.*634A>G (n.*634A>G) c.556A>G (p.Ile186Val) c.*758A>G (n.*758A>G) c.796A>G (p.Ile266Val) c.*623A>G (n.*623A>G) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.43122662A>T | CA371122783 | POMK | c.838A>T (p.Ile280Phe) c.*634A>T (n.*634A>T) c.556A>T (p.Ile186Phe) c.*758A>T (n.*758A>T) c.796A>T (p.Ile266Phe) c.*623A>T (n.*623A>T) | |
8 | g.43122663T>A | CA371122786 | POMK | c.839T>A (p.Ile280Asn) c.*635T>A (n.*635T>A) c.557T>A (p.Ile186Asn) c.*759T>A (n.*759T>A) c.797T>A (p.Ile266Asn) c.*624T>A (n.*624T>A) | |
8 | g.43122663T>C | CA371122787 | POMK | c.839T>C (p.Ile280Thr) c.*635T>C (n.*635T>C) c.557T>C (p.Ile186Thr) c.*759T>C (n.*759T>C) c.797T>C (p.Ile266Thr) c.*624T>C (n.*624T>C) | |
8 | g.43122663T>G | CA371122788 | POMK | c.839T>G (p.Ile280Ser) c.*635T>G (n.*635T>G) c.557T>G (p.Ile186Ser) c.*759T>G (n.*759T>G) c.797T>G (p.Ile266Ser) c.*624T>G (n.*624T>G) | gnomAD v4 |
8 | g.43122664T>A | CA460787347 | POMK | c.840T>A (p.Ile280=) c.*636T>A (n.*636T>A) c.558T>A (p.Ile186=) c.*760T>A (n.*760T>A) c.798T>A (p.Ile266=) c.*625T>A (n.*625T>A) | |
8 | g.43122664T>C | CA460787348 | POMK | c.840T>C (p.Ile280=) c.*636T>C (n.*636T>C) c.558T>C (p.Ile186=) c.*760T>C (n.*760T>C) c.798T>C (p.Ile266=) c.*625T>C (n.*625T>C) | |
8 | g.43122664T>G | CA371122789 | POMK | c.840T>G (p.Ile280Met) c.*636T>G (n.*636T>G) c.558T>G (p.Ile186Met) c.*760T>G (n.*760T>G) c.798T>G (p.Ile266Met) c.*625T>G (n.*625T>G) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.43122664T= | CA1779747808 | POMK | c.840T= (p.Ile280=) c.*636T= (n.*636T=) c.558T= (p.Ile186=) c.*760T= (n.*760T=) c.798T= (p.Ile266=) c.*625T= (n.*625T=) | |
8 | g.43122665G>A | CA371122790 | POMK | c.841G>A (p.Asp281Asn) c.*637G>A (n.*637G>A) c.559G>A (p.Asp187Asn) c.*761G>A (n.*761G>A) c.799G>A (p.Asp267Asn) c.*626G>A (n.*626G>A) | |
8 | g.43122665G>C | CA371122791 | POMK | c.841G>C (p.Asp281His) c.*637G>C (n.*637G>C) c.559G>C (p.Asp187His) c.*761G>C (n.*761G>C) c.799G>C (p.Asp267His) c.*626G>C (n.*626G>C) | |
8 | g.43122665G>T | CA371122792 | POMK | c.841G>T (p.Asp281Tyr) c.*637G>T (n.*637G>T) c.559G>T (p.Asp187Tyr) c.*761G>T (n.*761G>T) c.799G>T (p.Asp267Tyr) c.*626G>T (n.*626G>T) | |
8 | g.43122666A>C | CA371122793 | POMK | c.842A>C (p.Asp281Ala) c.*638A>C (n.*638A>C) c.560A>C (p.Asp187Ala) c.*762A>C (n.*762A>C) c.800A>C (p.Asp267Ala) c.*627A>C (n.*627A>C) | |
8 | g.43122666A>G | CA371122794 | POMK | c.842A>G (p.Asp281Gly) c.*638A>G (n.*638A>G) c.560A>G (p.Asp187Gly) c.*762A>G (n.*762A>G) c.800A>G (p.Asp267Gly) c.*627A>G (n.*627A>G) | |
8 | g.43122666A>T | CA371122795 | POMK | c.842A>T (p.Asp281Val) c.*638A>T (n.*638A>T) c.560A>T (p.Asp187Val) c.*762A>T (n.*762A>T) c.800A>T (p.Asp267Val) c.*627A>T (n.*627A>T) | |
8 | g.43122667C>A | CA371122796 | POMK | c.843C>A (p.Asp281Glu) c.*639C>A (n.*639C>A) c.561C>A (p.Asp187Glu) c.*763C>A (n.*763C>A) c.801C>A (p.Asp267Glu) c.*628C>A (n.*628C>A) | |
8 | g.43122667C>G | CA371122797 | POMK | c.843C>G (p.Asp281Glu) c.*639C>G (n.*639C>G) c.561C>G (p.Asp187Glu) c.*763C>G (n.*763C>G) c.801C>G (p.Asp267Glu) c.*628C>G (n.*628C>G) | gnomAD v4 |
8 | g.43122667C>T | CA460787352 | POMK | c.843C>T (p.Asp281=) c.*639C>T (n.*639C>T) c.561C>T (p.Asp187=) c.*763C>T (n.*763C>T) c.801C>T (p.Asp267=) c.*628C>T (n.*628C>T) | gnomAD v4 |
8 | g.43122668A= | CA1779747811 | POMK | c.844A= (p.Ile282=) c.*640A= (n.*640A=) c.562A= (p.Ile188=) c.*764A= (n.*764A=) c.802A= (p.Ile268=) c.*629A= (n.*629A=) | |
8 | g.43122668A>C | CA371122799 | POMK | c.844A>C (p.Ile282Leu) c.*640A>C (n.*640A>C) c.562A>C (p.Ile188Leu) c.*764A>C (n.*764A>C) c.802A>C (p.Ile268Leu) c.*629A>C (n.*629A>C) | |
8 | g.43122668A>G | CA4736362 | POMK | c.844A>G (p.Ile282Val) c.*640A>G (n.*640A>G) c.562A>G (p.Ile188Val) c.*764A>G (n.*764A>G) c.802A>G (p.Ile268Val) c.*629A>G (n.*629A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43122668A>T | CA371122798 | POMK | c.844A>T (p.Ile282Phe) c.*640A>T (n.*640A>T) c.562A>T (p.Ile188Phe) c.*764A>T (n.*764A>T) c.802A>T (p.Ile268Phe) c.*629A>T (n.*629A>T) | |
8 | g.43122669T>A | CA371122800 | POMK | c.845T>A (p.Ile282Asn) c.*641T>A (n.*641T>A) c.563T>A (p.Ile188Asn) c.*765T>A (n.*765T>A) c.803T>A (p.Ile268Asn) c.*630T>A (n.*630T>A) | |
8 | g.43122669T>C | CA371122801 | POMK | c.845T>C (p.Ile282Thr) c.*641T>C (n.*641T>C) c.563T>C (p.Ile188Thr) c.*765T>C (n.*765T>C) c.803T>C (p.Ile268Thr) c.*630T>C (n.*630T>C) | dbSNP |
8 | g.43122669T>G | CA371122802 | POMK | c.845T>G (p.Ile282Ser) c.*641T>G (n.*641T>G) c.563T>G (p.Ile188Ser) c.*765T>G (n.*765T>G) c.803T>G (p.Ile268Ser) c.*630T>G (n.*630T>G) | |
8 | g.43122669T= | CA1779747813 | POMK | c.845T= (p.Ile282=) c.*641T= (n.*641T=) c.563T= (p.Ile188=) c.*765T= (n.*765T=) c.803T= (p.Ile268=) c.*630T= (n.*630T=) | |
8 | g.43122671del | CA2740095019 | POMK | c.847del (p.Trp283GlyfsTer?) c.*643del (n.*643del) c.565del (p.Trp189GlyfsTer?) c.*767del (n.*767del) c.805del (p.Trp269GlyfsTer?) c.*632del (n.*632del) | ClinVar |
8 | g.43122670T>A | CA460787354 | POMK | c.846T>A (p.Ile282=) c.*642T>A (n.*642T>A) c.564T>A (p.Ile188=) c.*766T>A (n.*766T>A) c.804T>A (p.Ile268=) c.*631T>A (n.*631T>A) | |
8 | g.43122670T>C | CA460787355 | POMK | c.846T>C (p.Ile282=) c.*642T>C (n.*642T>C) c.564T>C (p.Ile188=) c.*766T>C (n.*766T>C) c.804T>C (p.Ile268=) c.*631T>C (n.*631T>C) | |
8 | g.43122670T>G | CA371122803 | POMK | c.846T>G (p.Ile282Met) c.*642T>G (n.*642T>G) c.564T>G (p.Ile188Met) c.*766T>G (n.*766T>G) c.804T>G (p.Ile268Met) c.*631T>G (n.*631T>G) | |
8 | g.43122671T>A | CA371122804 | POMK | c.847T>A (p.Trp283Arg) c.*643T>A (n.*643T>A) c.565T>A (p.Trp189Arg) c.*767T>A (n.*767T>A) c.805T>A (p.Trp269Arg) c.*632T>A (n.*632T>A) | |
8 | g.43122671T>C | CA371122805 | POMK | c.847T>C (p.Trp283Arg) c.*643T>C (n.*643T>C) c.565T>C (p.Trp189Arg) c.*767T>C (n.*767T>C) c.805T>C (p.Trp269Arg) c.*632T>C (n.*632T>C) | dbSNP |
8 | g.43122671T>G | CA371122806 | POMK | c.847T>G (p.Trp283Gly) c.*643T>G (n.*643T>G) c.565T>G (p.Trp189Gly) c.*767T>G (n.*767T>G) c.805T>G (p.Trp269Gly) c.*632T>G (n.*632T>G) | |
8 | g.43122671T= | CA1779747816 | POMK | c.847T= (p.Trp283=) c.*643T= (n.*643T=) c.565T= (p.Trp189=) c.*767T= (n.*767T=) c.805T= (p.Trp269=) c.*632T= (n.*632T=) | |
8 | g.43122672G>A | CA371122807 | POMK | c.848G>A (p.Trp283Ter) c.*644G>A (n.*644G>A) c.566G>A (p.Trp189Ter) c.*768G>A (n.*768G>A) c.806G>A (p.Trp269Ter) c.*633G>A (n.*633G>A) | |
8 | g.43122672G>C | CA371122808 | POMK | c.848G>C (p.Trp283Ser) c.*644G>C (n.*644G>C) c.566G>C (p.Trp189Ser) c.*768G>C (n.*768G>C) c.806G>C (p.Trp269Ser) c.*633G>C (n.*633G>C) | |
8 | g.43122672G>T | CA371122809 | POMK | c.848G>T (p.Trp283Leu) c.*644G>T (n.*644G>T) c.566G>T (p.Trp189Leu) c.*768G>T (n.*768G>T) c.806G>T (p.Trp269Leu) c.*633G>T (n.*633G>T) | gnomAD v4 |
8 | g.43122673G>A | CA371122810 | POMK | c.849G>A (p.Trp283Ter) c.*645G>A (n.*645G>A) c.567G>A (p.Trp189Ter) c.*769G>A (n.*769G>A) c.807G>A (p.Trp269Ter) c.*634G>A (n.*634G>A) | |
8 | g.43122673G>C | CA371122811 | POMK | c.849G>C (p.Trp283Cys) c.*645G>C (n.*645G>C) c.567G>C (p.Trp189Cys) c.*769G>C (n.*769G>C) c.807G>C (p.Trp269Cys) c.*634G>C (n.*634G>C) | |
8 | g.43122673G>T | CA371122812 | POMK | c.849G>T (p.Trp283Cys) c.*645G>T (n.*645G>T) c.567G>T (p.Trp189Cys) c.*769G>T (n.*769G>T) c.807G>T (p.Trp269Cys) c.*634G>T (n.*634G>T) | |
8 | g.43122674A= | CA1779747819 | POMK | c.850A= (p.Lys284=) c.*646A= (n.*646A=) c.568A= (p.Lys190=) c.*770A= (n.*770A=) c.808A= (p.Lys270=) c.*635A= (n.*635A=) | |
8 | g.43122674A>C | CA371122814 | POMK | c.850A>C (p.Lys284Gln) c.*646A>C (n.*646A>C) c.568A>C (p.Lys190Gln) c.*770A>C (n.*770A>C) c.808A>C (p.Lys270Gln) c.*635A>C (n.*635A>C) | |
8 | g.43122674A>G | CA4736363 | POMK | c.850A>G (p.Lys284Glu) c.*646A>G (n.*646A>G) c.568A>G (p.Lys190Glu) c.*770A>G (n.*770A>G) c.808A>G (p.Lys270Glu) c.*635A>G (n.*635A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.43122674A>T | CA371122813 | POMK | c.850A>T (p.Lys284Ter) c.*646A>T (n.*646A>T) c.568A>T (p.Lys190Ter) c.*770A>T (n.*770A>T) c.808A>T (p.Lys270Ter) c.*635A>T (n.*635A>T) | |
8 | g.43122675A>C | CA371122815 | POMK | c.851A>C (p.Lys284Thr) c.*647A>C (n.*647A>C) c.569A>C (p.Lys190Thr) c.*771A>C (n.*771A>C) c.809A>C (p.Lys270Thr) c.*636A>C (n.*636A>C) | |
8 | g.43122675A>G | CA371122816 | POMK | c.851A>G (p.Lys284Arg) c.*647A>G (n.*647A>G) c.569A>G (p.Lys190Arg) c.*771A>G (n.*771A>G) c.809A>G (p.Lys270Arg) c.*636A>G (n.*636A>G) | |
8 | g.43122675A>T | CA371122817 | POMK | c.851A>T (p.Lys284Met) c.*647A>T (n.*647A>T) c.569A>T (p.Lys190Met) c.*771A>T (n.*771A>T) c.809A>T (p.Lys270Met) c.*636A>T (n.*636A>T) | |
8 | g.43122676G>A | CA460787359 | POMK | c.852G>A (p.Lys284=) c.*648G>A (n.*648G>A) c.570G>A (p.Lys190=) c.*772G>A (n.*772G>A) c.810G>A (p.Lys270=) c.*637G>A (n.*637G>A) | |
8 | g.43122676G>C | CA371122818 | POMK | c.852G>C (p.Lys284Asn) c.*648G>C (n.*648G>C) c.570G>C (p.Lys190Asn) c.*772G>C (n.*772G>C) c.810G>C (p.Lys270Asn) c.*637G>C (n.*637G>C) | |
8 | g.43122676G>T | CA371122819 | POMK | c.852G>T (p.Lys284Asn) c.*648G>T (n.*648G>T) c.570G>T (p.Lys190Asn) c.*772G>T (n.*772G>T) c.810G>T (p.Lys270Asn) c.*637G>T (n.*637G>T) | |
8 | g.43122677A= | CA1779747823 | POMK | c.853A= (p.Ile285=) c.*649A= (n.*649A=) c.571A= (p.Ile191=) c.*773A= (n.*773A=) c.811A= (p.Ile271=) c.*638A= (n.*638A=) | |
8 | g.43122677A>C | CA371122820 | POMK | c.853A>C (p.Ile285Leu) c.*649A>C (n.*649A>C) c.571A>C (p.Ile191Leu) c.*773A>C (n.*773A>C) c.811A>C (p.Ile271Leu) c.*638A>C (n.*638A>C) | |
8 | g.43122677A>G | CA371122821 | POMK | c.853A>G (p.Ile285Val) c.*649A>G (n.*649A>G) c.571A>G (p.Ile191Val) c.*773A>G (n.*773A>G) c.811A>G (p.Ile271Val) c.*638A>G (n.*638A>G) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.43122677A>T | CA371122822 | POMK | c.853A>T (p.Ile285Phe) c.*649A>T (n.*649A>T) c.571A>T (p.Ile191Phe) c.*773A>T (n.*773A>T) c.811A>T (p.Ile271Phe) c.*638A>T (n.*638A>T) | |
8 | g.43122678T>A | CA371122823 | POMK | c.854T>A (p.Ile285Asn) c.*650T>A (n.*650T>A) c.572T>A (p.Ile191Asn) c.*774T>A (n.*774T>A) c.812T>A (p.Ile271Asn) c.*639T>A (n.*639T>A) | |
8 | g.43122678T>C | CA371122824 | POMK | c.854T>C (p.Ile285Thr) c.*650T>C (n.*650T>C) c.572T>C (p.Ile191Thr) c.*774T>C (n.*774T>C) c.812T>C (p.Ile271Thr) c.*639T>C (n.*639T>C) | |
8 | g.43122678T>G | CA371122825 | POMK | c.854T>G (p.Ile285Ser) c.*650T>G (n.*650T>G) c.572T>G (p.Ile191Ser) c.*774T>G (n.*774T>G) c.812T>G (p.Ile271Ser) c.*639T>G (n.*639T>G) | |
8 | g.43122679C>A | CA460787361 | POMK | c.855C>A (p.Ile285=) c.*651C>A (n.*651C>A) c.573C>A (p.Ile191=) c.*775C>A (n.*775C>A) c.813C>A (p.Ile271=) c.*640C>A (n.*640C>A) | |
8 | g.43122679C= | CA1779747824 | POMK | c.855C= (p.Ile285=) c.*651C= (n.*651C=) c.573C= (p.Ile191=) c.*775C= (n.*775C=) c.813C= (p.Ile271=) c.*640C= (n.*640C=) | |
8 | g.43122679C>G | CA371122826 | POMK | c.855C>G (p.Ile285Met) c.*651C>G (n.*651C>G) c.573C>G (p.Ile191Met) c.*775C>G (n.*775C>G) c.813C>G (p.Ile271Met) c.*640C>G (n.*640C>G) | dbSNP gnomAD v4 |
8 | g.43122679C>T | CA460787362 | POMK | c.855C>T (p.Ile285=) c.*651C>T (n.*651C>T) c.573C>T (p.Ile191=) c.*775C>T (n.*775C>T) c.813C>T (p.Ile271=) c.*640C>T (n.*640C>T) | |
8 | g.43122680C>A | CA371122828 | POMK | c.856C>A (p.Pro286Thr) c.*652C>A (n.*652C>A) c.574C>A (p.Pro192Thr) c.*776C>A (n.*776C>A) c.814C>A (p.Pro272Thr) c.*641C>A (n.*641C>A) | dbSNP |
8 | g.43122680C= | CA1779747828 | POMK | c.856C= (p.Pro286=) c.*652C= (n.*652C=) c.574C= (p.Pro192=) c.*776C= (n.*776C=) c.814C= (p.Pro272=) c.*641C= (n.*641C=) | |
8 | g.43122680C>G | CA371122827 | POMK | c.856C>G (p.Pro286Ala) c.*652C>G (n.*652C>G) c.574C>G (p.Pro192Ala) c.*776C>G (n.*776C>G) c.814C>G (p.Pro272Ala) c.*641C>G (n.*641C>G) | |
8 | g.43122680C>T | CA4736364 | POMK | c.856C>T (p.Pro286Ser) c.*652C>T (n.*652C>T) c.574C>T (p.Pro192Ser) c.*776C>T (n.*776C>T) c.814C>T (p.Pro272Ser) c.*641C>T (n.*641C>T) | dbSNP ExAC gnomAD v2 |
8 | g.43122681C>A | CA371122829 | POMK | c.857C>A (p.Pro286Gln) c.*653C>A (n.*653C>A) c.575C>A (p.Pro192Gln) c.*777C>A (n.*777C>A) c.815C>A (p.Pro272Gln) c.*642C>A (n.*642C>A) | |
8 | g.43122681C>G | CA371122831 | POMK | c.857C>G (p.Pro286Arg) c.*653C>G (n.*653C>G) c.575C>G (p.Pro192Arg) c.*777C>G (n.*777C>G) c.815C>G (p.Pro272Arg) c.*642C>G (n.*642C>G) | |
8 | g.43122681C>T | CA371122830 | POMK | c.857C>T (p.Pro286Leu) c.*653C>T (n.*653C>T) c.575C>T (p.Pro192Leu) c.*777C>T (n.*777C>T) c.815C>T (p.Pro272Leu) c.*642C>T (n.*642C>T) | |
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) |