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This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 8 | g.43122706G>A | CA4736370 | POMK | c.882G>A (p.Gly294=) c.*678G>A (n.*678G>A) c.600G>A (p.Gly200=) c.*802G>A (n.*802G>A) c.840G>A (p.Gly280=) c.*667G>A (n.*667G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122706G>C | CA460787400 | POMK | c.882G>C (p.Gly294=) c.*678G>C (n.*678G>C) c.600G>C (p.Gly200=) c.*802G>C (n.*802G>C) c.840G>C (p.Gly280=) c.*667G>C (n.*667G>C) | |
| 8 | g.43122706G= | CA1779747870 | POMK | c.882G= (p.Gly294=) c.*678G= (n.*678G=) c.600G= (p.Gly200=) c.*802G= (n.*802G=) c.840G= (p.Gly280=) c.*667G= (n.*667G=) | |
| 8 | g.43122706G>T | CA460787399 | POMK | c.882G>T (p.Gly294=) c.*678G>T (n.*678G>T) c.600G>T (p.Gly200=) c.*802G>T (n.*802G>T) c.840G>T (p.Gly280=) c.*667G>T (n.*667G>T) | |
| 8 | g.43122707C>A | CA371122885 | POMK | c.883C>A (p.His295Asn) c.*679C>A (n.*679C>A) c.601C>A (p.His201Asn) c.*803C>A (n.*803C>A) c.841C>A (p.His281Asn) c.*668C>A (n.*668C>A) | |
| 8 | g.43122707C= | CA1779747874 | POMK | c.883C= (p.His295=) c.*679C= (n.*679C=) c.601C= (p.His201=) c.*803C= (n.*803C=) c.841C= (p.His281=) c.*668C= (n.*668C=) | |
| 8 | g.43122707C>G | CA371122886 | POMK | c.883C>G (p.His295Asp) c.*679C>G (n.*679C>G) c.601C>G (p.His201Asp) c.*803C>G (n.*803C>G) c.841C>G (p.His281Asp) c.*668C>G (n.*668C>G) | gnomAD v4 |
| 8 | g.43122707C>T | CA371122884 | POMK | c.883C>T (p.His295Tyr) c.*679C>T (n.*679C>T) c.601C>T (p.His201Tyr) c.*803C>T (n.*803C>T) c.841C>T (p.His281Tyr) c.*668C>T (n.*668C>T) | ClinVar dbSNP gnomAD v4 |
| 8 | g.43122708A>C | CA371122887 | POMK | c.884A>C (p.His295Pro) c.*680A>C (n.*680A>C) c.602A>C (p.His201Pro) c.*804A>C (n.*804A>C) c.842A>C (p.His281Pro) c.*669A>C (n.*669A>C) | |
| 8 | g.43122708A>G | CA371122888 | POMK | c.884A>G (p.His295Arg) c.*680A>G (n.*680A>G) c.602A>G (p.His201Arg) c.*804A>G (n.*804A>G) c.842A>G (p.His281Arg) c.*669A>G (n.*669A>G) | |
| 8 | g.43122708A>T | CA371122889 | POMK | c.884A>T (p.His295Leu) c.*680A>T (n.*680A>T) c.602A>T (p.His201Leu) c.*804A>T (n.*804A>T) c.842A>T (p.His281Leu) c.*669A>T (n.*669A>T) | gnomAD v4 |
| 8 | g.43122709C>A | CA371122890 | POMK | c.885C>A (p.His295Gln) c.*681C>A (n.*681C>A) c.603C>A (p.His201Gln) c.*805C>A (n.*805C>A) c.843C>A (p.His281Gln) c.*670C>A (n.*670C>A) | |
| 8 | g.43122709C= | CA1779747880 | POMK | c.885C= (p.His295=) c.*681C= (n.*681C=) c.603C= (p.His201=) c.*805C= (n.*805C=) c.843C= (p.His281=) c.*670C= (n.*670C=) | |
| 8 | g.43122709C>G | CA371122891 | POMK | c.885C>G (p.His295Gln) c.*681C>G (n.*681C>G) c.603C>G (p.His201Gln) c.*805C>G (n.*805C>G) c.843C>G (p.His281Gln) c.*670C>G (n.*670C>G) | |
| 8 | g.43122709C>T | CA460787403 | POMK | c.885C>T (p.His295=) c.*681C>T (n.*681C>T) c.603C>T (p.His201=) c.*805C>T (n.*805C>T) c.843C>T (p.His281=) c.*670C>T (n.*670C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.43122710A= | CA1779747885 | POMK | c.886A= (p.Ile296=) c.*682A= (n.*682A=) c.604A= (p.Ile202=) c.*806A= (n.*806A=) c.844A= (p.Ile282=) c.*671A= (n.*671A=) | |
| 8 | g.43122710A>C | CA371122892 | POMK | c.886A>C (p.Ile296Leu) c.*682A>C (n.*682A>C) c.604A>C (p.Ile202Leu) c.*806A>C (n.*806A>C) c.844A>C (p.Ile282Leu) c.*671A>C (n.*671A>C) | |
| 8 | g.43122710A>G | CA4736371 | POMK | c.886A>G (p.Ile296Val) c.*682A>G (n.*682A>G) c.604A>G (p.Ile202Val) c.*806A>G (n.*806A>G) c.844A>G (p.Ile282Val) c.*671A>G (n.*671A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122710A>T | CA371122893 | POMK | c.886A>T (p.Ile296Phe) c.*682A>T (n.*682A>T) c.604A>T (p.Ile202Phe) c.*806A>T (n.*806A>T) c.844A>T (p.Ile282Phe) c.*671A>T (n.*671A>T) | |
| 8 | g.43122712_43122724del | CA2687148572 | POMK | c.888_900del (p.Glu297TrpfsTer?) c.*684_*696del (n.*684_*696del) c.606_618del (p.Glu203TrpfsTer?) c.*808_*820del (n.*808_*820del) c.846_858del (p.Glu283TrpfsTer?) c.*673_*685del (n.*673_*685del) | gnomAD v4 |
| 8 | g.43122711T>A | CA176080688 | POMK | c.887T>A (p.Ile296Asn) c.*683T>A (n.*683T>A) c.605T>A (p.Ile202Asn) c.*807T>A (n.*807T>A) c.845T>A (p.Ile282Asn) c.*672T>A (n.*672T>A) | dbSNP gnomAD v4 |
| 8 | g.43122711T>C | CA4736372 | POMK | c.887T>C (p.Ile296Thr) c.*683T>C (n.*683T>C) c.605T>C (p.Ile202Thr) c.*807T>C (n.*807T>C) c.845T>C (p.Ile282Thr) c.*672T>C (n.*672T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122711T>G | CA371122894 | POMK | c.887T>G (p.Ile296Ser) c.*683T>G (n.*683T>G) c.605T>G (p.Ile202Ser) c.*807T>G (n.*807T>G) c.845T>G (p.Ile282Ser) c.*672T>G (n.*672T>G) | |
| 8 | g.43122711T= | CA1779747888 | POMK | c.887T= (p.Ile296=) c.*683T= (n.*683T=) c.605T= (p.Ile202=) c.*807T= (n.*807T=) c.845T= (p.Ile282=) c.*672T= (n.*672T=) | |
| 8 | g.43122712T>A | CA460787406 | POMK | c.888T>A (p.Ile296=) c.*684T>A (n.*684T>A) c.606T>A (p.Ile202=) c.*808T>A (n.*808T>A) c.846T>A (p.Ile282=) c.*673T>A (n.*673T>A) | |
| 8 | g.43122712T>C | CA460787407 | POMK | c.888T>C (p.Ile296=) c.*684T>C (n.*684T>C) c.606T>C (p.Ile202=) c.*808T>C (n.*808T>C) c.846T>C (p.Ile282=) c.*673T>C (n.*673T>C) | |
| 8 | g.43122712T>G | CA371122895 | POMK | c.888T>G (p.Ile296Met) c.*684T>G (n.*684T>G) c.606T>G (p.Ile202Met) c.*808T>G (n.*808T>G) c.846T>G (p.Ile282Met) c.*673T>G (n.*673T>G) | |
| 8 | g.43122713G>A | CA371122896 | POMK | c.889G>A (p.Glu297Lys) c.*685G>A (n.*685G>A) c.607G>A (p.Glu203Lys) c.*809G>A (n.*809G>A) c.847G>A (p.Glu283Lys) c.*674G>A (n.*674G>A) | COSMIC COSMIC |
| 8 | g.43122713G>C | CA371122897 | POMK | c.889G>C (p.Glu297Gln) c.*685G>C (n.*685G>C) c.607G>C (p.Glu203Gln) c.*809G>C (n.*809G>C) c.847G>C (p.Glu283Gln) c.*674G>C (n.*674G>C) | |
| 8 | g.43122713G= | CA1779747890 | POMK | c.889G= (p.Glu297=) c.*685G= (n.*685G=) c.607G= (p.Glu203=) c.*809G= (n.*809G=) c.847G= (p.Glu283=) c.*674G= (n.*674G=) | |
| 8 | g.43122713G>T | CA371122898 | POMK | c.889G>T (p.Glu297Ter) c.*685G>T (n.*685G>T) c.607G>T (p.Glu203Ter) c.*809G>T (n.*809G>T) c.847G>T (p.Glu283Ter) c.*674G>T (n.*674G>T) | |
| 8 | g.43122714A>C | CA371122899 | POMK | c.890A>C (p.Glu297Ala) c.*686A>C (n.*686A>C) c.608A>C (p.Glu203Ala) c.*810A>C (n.*810A>C) c.848A>C (p.Glu283Ala) c.*675A>C (n.*675A>C) | |
| 8 | g.43122714A>G | CA371122901 | POMK | c.890A>G (p.Glu297Gly) c.*686A>G (n.*686A>G) c.608A>G (p.Glu203Gly) c.*810A>G (n.*810A>G) c.848A>G (p.Glu283Gly) c.*675A>G (n.*675A>G) | |
| 8 | g.43122714A>T | CA371122900 | POMK | c.890A>T (p.Glu297Val) c.*686A>T (n.*686A>T) c.608A>T (p.Glu203Val) c.*810A>T (n.*810A>T) c.848A>T (p.Glu283Val) c.*675A>T (n.*675A>T) | |
| 8 | g.43122715dup | CA1779747891 | POMK | c.891dup (p.Gly298ArgfsTer3) c.*687dup (n.*687dup) c.609dup (p.Gly204ArgfsTer3) c.*811dup (n.*811dup) c.849dup (p.Gly284ArgfsTer3) c.*676dup (n.*676dup) | dbSNP |
| 8 | g.43122715A>C | CA371122902 | POMK | c.891A>C (p.Glu297Asp) c.*687A>C (n.*687A>C) c.609A>C (p.Glu203Asp) c.*811A>C (n.*811A>C) c.849A>C (p.Glu283Asp) c.*676A>C (n.*676A>C) | |
| 8 | g.43122715A>G | CA460787409 | POMK | c.891A>G (p.Glu297=) c.*687A>G (n.*687A>G) c.609A>G (p.Glu203=) c.*811A>G (n.*811A>G) c.849A>G (p.Glu283=) c.*676A>G (n.*676A>G) | |
| 8 | g.43122715A>T | CA371122903 | POMK | c.891A>T (p.Glu297Asp) c.*687A>T (n.*687A>T) c.609A>T (p.Glu203Asp) c.*811A>T (n.*811A>T) c.849A>T (p.Glu283Asp) c.*676A>T (n.*676A>T) | |
| 8 | g.43122716G>A | CA371122904 | POMK | c.892G>A (p.Gly298Arg) c.*688G>A (n.*688G>A) c.610G>A (p.Gly204Arg) c.*812G>A (n.*812G>A) c.850G>A (p.Gly284Arg) c.*677G>A (n.*677G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.43122716G>C | CA371122905 | POMK | c.892G>C (p.Gly298Arg) c.*688G>C (n.*688G>C) c.610G>C (p.Gly204Arg) c.*812G>C (n.*812G>C) c.850G>C (p.Gly284Arg) c.*677G>C (n.*677G>C) | |
| 8 | g.43122716G= | CA1779747894 | POMK | c.892G= (p.Gly298=) c.*688G= (n.*688G=) c.610G= (p.Gly204=) c.*812G= (n.*812G=) c.850G= (p.Gly284=) c.*677G= (n.*677G=) | |
| 8 | g.43122716G>T | CA371122906 | POMK | c.892G>T (p.Gly298Trp) c.*688G>T (n.*688G>T) c.610G>T (p.Gly204Trp) c.*812G>T (n.*812G>T) c.850G>T (p.Gly284Trp) c.*677G>T (n.*677G>T) | |
| 8 | g.43122717G>A | CA371122907 | POMK | c.893G>A (p.Gly298Glu) c.*689G>A (n.*689G>A) c.611G>A (p.Gly204Glu) c.*813G>A (n.*813G>A) c.851G>A (p.Gly284Glu) c.*678G>A (n.*678G>A) | |
| 8 | g.43122717G>C | CA371122908 | POMK | c.893G>C (p.Gly298Ala) c.*689G>C (n.*689G>C) c.611G>C (p.Gly204Ala) c.*813G>C (n.*813G>C) c.851G>C (p.Gly284Ala) c.*678G>C (n.*678G>C) | |
| 8 | g.43122717G>T | CA371122909 | POMK | c.893G>T (p.Gly298Val) c.*689G>T (n.*689G>T) c.611G>T (p.Gly204Val) c.*813G>T (n.*813G>T) c.851G>T (p.Gly284Val) c.*678G>T (n.*678G>T) | |
| 8 | g.43122718G>A | CA460787410 | POMK | c.894G>A (p.Gly298=) c.*690G>A (n.*690G>A) c.612G>A (p.Gly204=) c.*814G>A (n.*814G>A) c.852G>A (p.Gly284=) c.*679G>A (n.*679G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.43122718G>C | CA460787411 | POMK | c.894G>C (p.Gly298=) c.*690G>C (n.*690G>C) c.612G>C (p.Gly204=) c.*814G>C (n.*814G>C) c.852G>C (p.Gly284=) c.*679G>C (n.*679G>C) | |
| 8 | g.43122718G= | CA1779747897 | POMK | c.894G= (p.Gly298=) c.*690G= (n.*690G=) c.612G= (p.Gly204=) c.*814G= (n.*814G=) c.852G= (p.Gly284=) c.*679G= (n.*679G=) | |
| 8 | g.43122718G>T | CA460787412 | POMK | c.894G>T (p.Gly298=) c.*690G>T (n.*690G>T) c.612G>T (p.Gly204=) c.*814G>T (n.*814G>T) c.852G>T (p.Gly284=) c.*679G>T (n.*679G>T) | gnomAD v4 |
| 8 | g.43122719A>C | CA371122910 | POMK | c.895A>C (p.Ser299Arg) c.*691A>C (n.*691A>C) c.613A>C (p.Ser205Arg) c.*815A>C (n.*815A>C) c.853A>C (p.Ser285Arg) c.*680A>C (n.*680A>C) | gnomAD v4 |
| 8 | g.43122719A>G | CA371122911 | POMK | c.895A>G (p.Ser299Gly) c.*691A>G (n.*691A>G) c.613A>G (p.Ser205Gly) c.*815A>G (n.*815A>G) c.853A>G (p.Ser285Gly) c.*680A>G (n.*680A>G) | |
| 8 | g.43122719A>T | CA371122912 | POMK | c.895A>T (p.Ser299Cys) c.*691A>T (n.*691A>T) c.613A>T (p.Ser205Cys) c.*815A>T (n.*815A>T) c.853A>T (p.Ser285Cys) c.*680A>T (n.*680A>T) | |
| 8 | g.43122720G>A | CA371122913 | POMK | c.896G>A (p.Ser299Asn) c.*692G>A (n.*692G>A) c.614G>A (p.Ser205Asn) c.*816G>A (n.*816G>A) c.854G>A (p.Ser285Asn) c.*681G>A (n.*681G>A) | |
| 8 | g.43122720G>C | CA371122915 | POMK | c.896G>C (p.Ser299Thr) c.*692G>C (n.*692G>C) c.614G>C (p.Ser205Thr) c.*816G>C (n.*816G>C) c.854G>C (p.Ser285Thr) c.*681G>C (n.*681G>C) | |
| 8 | g.43122720G>T | CA371122914 | POMK | c.896G>T (p.Ser299Ile) c.*692G>T (n.*692G>T) c.614G>T (p.Ser205Ile) c.*816G>T (n.*816G>T) c.854G>T (p.Ser285Ile) c.*681G>T (n.*681G>T) | |
| 8 | g.43122721T>A | CA371122916 | POMK | c.897T>A (p.Ser299Arg) c.*693T>A (n.*693T>A) c.615T>A (p.Ser205Arg) c.*817T>A (n.*817T>A) c.855T>A (p.Ser285Arg) c.*682T>A (n.*682T>A) | |
| 8 | g.43122721T>C | CA460787415 | POMK | c.897T>C (p.Ser299=) c.*693T>C (n.*693T>C) c.615T>C (p.Ser205=) c.*817T>C (n.*817T>C) c.855T>C (p.Ser285=) c.*682T>C (n.*682T>C) | |
| 8 | g.43122721T>G | CA371122917 | POMK | c.897T>G (p.Ser299Arg) c.*693T>G (n.*693T>G) c.615T>G (p.Ser205Arg) c.*817T>G (n.*817T>G) c.855T>G (p.Ser285Arg) c.*682T>G (n.*682T>G) | |
| 8 | g.43122722G>A | CA371122918 | POMK | c.898G>A (p.Asp300Asn) c.*694G>A (n.*694G>A) c.616G>A (p.Asp206Asn) c.*818G>A (n.*818G>A) c.856G>A (p.Asp286Asn) c.*683G>A (n.*683G>A) | |
| 8 | g.43122722G>C | CA371122919 | POMK | c.898G>C (p.Asp300His) c.*694G>C (n.*694G>C) c.616G>C (p.Asp206His) c.*818G>C (n.*818G>C) c.856G>C (p.Asp286His) c.*683G>C (n.*683G>C) | |
| 8 | g.43122722G>T | CA371122920 | POMK | c.898G>T (p.Asp300Tyr) c.*694G>T (n.*694G>T) c.616G>T (p.Asp206Tyr) c.*818G>T (n.*818G>T) c.856G>T (p.Asp286Tyr) c.*683G>T (n.*683G>T) | |
| 8 | g.43122723A>C | CA371122921 | POMK | c.899A>C (p.Asp300Ala) c.*695A>C (n.*695A>C) c.617A>C (p.Asp206Ala) c.*819A>C (n.*819A>C) c.857A>C (p.Asp286Ala) c.*684A>C (n.*684A>C) | |
| 8 | g.43122723A>G | CA371122922 | POMK | c.899A>G (p.Asp300Gly) c.*695A>G (n.*695A>G) c.617A>G (p.Asp206Gly) c.*819A>G (n.*819A>G) c.857A>G (p.Asp286Gly) c.*684A>G (n.*684A>G) | |
| 8 | g.43122723A>T | CA371122923 | POMK | c.899A>T (p.Asp300Val) c.*695A>T (n.*695A>T) c.617A>T (p.Asp206Val) c.*819A>T (n.*819A>T) c.857A>T (p.Asp286Val) c.*684A>T (n.*684A>T) | |
| 8 | g.43122724T>A | CA371122924 | POMK | c.900T>A (p.Asp300Glu) c.*696T>A (n.*696T>A) c.618T>A (p.Asp206Glu) c.*820T>A (n.*820T>A) c.858T>A (p.Asp286Glu) c.*685T>A (n.*685T>A) | |
| 8 | g.43122724T>C | CA460787420 | POMK | c.900T>C (p.Asp300=) c.*696T>C (n.*696T>C) c.618T>C (p.Asp206=) c.*820T>C (n.*820T>C) c.858T>C (p.Asp286=) c.*685T>C (n.*685T>C) | |
| 8 | g.43122724T>G | CA371122925 | POMK | c.900T>G (p.Asp300Glu) c.*696T>G (n.*696T>G) c.618T>G (p.Asp206Glu) c.*820T>G (n.*820T>G) c.858T>G (p.Asp286Glu) c.*685T>G (n.*685T>G) | |
| 8 | g.43122725A= | CA1779747899 | POMK | c.901A= (p.Met301=) c.*697A= (n.*697A=) c.619A= (p.Met207=) c.*821A= (n.*821A=) c.859A= (p.Met287=) c.*686A= (n.*686A=) | |
| 8 | g.43122725A>C | CA371122926 | POMK | c.901A>C (p.Met301Leu) c.*697A>C (n.*697A>C) c.619A>C (p.Met207Leu) c.*821A>C (n.*821A>C) c.859A>C (p.Met287Leu) c.*686A>C (n.*686A>C) | |
| 8 | g.43122725A>G | CA4736373 | POMK | c.901A>G (p.Met301Val) c.*697A>G (n.*697A>G) c.619A>G (p.Met207Val) c.*821A>G (n.*821A>G) c.859A>G (p.Met287Val) c.*686A>G (n.*686A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122725A>T | CA371122927 | POMK | c.901A>T (p.Met301Leu) c.*697A>T (n.*697A>T) c.619A>T (p.Met207Leu) c.*821A>T (n.*821A>T) c.859A>T (p.Met287Leu) c.*686A>T (n.*686A>T) | |
| 8 | g.43122726T>A | CA371122928 | POMK | c.902T>A (p.Met301Lys) c.*698T>A (n.*698T>A) c.620T>A (p.Met207Lys) c.*822T>A (n.*822T>A) c.860T>A (p.Met287Lys) c.*687T>A (n.*687T>A) | |
| 8 | g.43122726T>C | CA4736374 | POMK | c.902T>C (p.Met301Thr) c.*698T>C (n.*698T>C) c.620T>C (p.Met207Thr) c.*822T>C (n.*822T>C) c.860T>C (p.Met287Thr) c.*687T>C (n.*687T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122726T>G | CA371122929 | POMK | c.902T>G (p.Met301Arg) c.*698T>G (n.*698T>G) c.620T>G (p.Met207Arg) c.*822T>G (n.*822T>G) c.860T>G (p.Met287Arg) c.*687T>G (n.*687T>G) | |
| 8 | g.43122726T= | CA1779747904 | POMK | c.902T= (p.Met301=) c.*698T= (n.*698T=) c.620T= (p.Met207=) c.*822T= (n.*822T=) c.860T= (p.Met287=) c.*687T= (n.*687T=) | |
| 8 | g.43122727G>A | CA371122930 | POMK | c.903G>A (p.Met301Ile) c.*699G>A (n.*699G>A) c.621G>A (p.Met207Ile) c.*823G>A (n.*823G>A) c.861G>A (p.Met287Ile) c.*688G>A (n.*688G>A) | |
| 8 | g.43122727G>C | CA371122931 | POMK | c.903G>C (p.Met301Ile) c.*699G>C (n.*699G>C) c.621G>C (p.Met207Ile) c.*823G>C (n.*823G>C) c.861G>C (p.Met287Ile) c.*688G>C (n.*688G>C) | |
| 8 | g.43122727G>T | CA371122932 | POMK | c.903G>T (p.Met301Ile) c.*699G>T (n.*699G>T) c.621G>T (p.Met207Ile) c.*823G>T (n.*823G>T) c.861G>T (p.Met287Ile) c.*688G>T (n.*688G>T) | |
| 8 | g.43122728G>A | CA371122933 | POMK | c.904G>A (p.Val302Ile) c.*700G>A (n.*700G>A) c.622G>A (p.Val208Ile) c.*824G>A (n.*824G>A) c.862G>A (p.Val288Ile) c.*689G>A (n.*689G>A) | |
| 8 | g.43122728G>C | CA371122934 | POMK | c.904G>C (p.Val302Leu) c.*700G>C (n.*700G>C) c.622G>C (p.Val208Leu) c.*824G>C (n.*824G>C) c.862G>C (p.Val288Leu) c.*689G>C (n.*689G>C) | |
| 8 | g.43122728G= | CA1779747906 | POMK | c.904G= (p.Val302=) c.*700G= (n.*700G=) c.622G= (p.Val208=) c.*824G= (n.*824G=) c.862G= (p.Val288=) c.*689G= (n.*689G=) | |
| 8 | g.43122728G>T | CA371122935 | POMK | c.904G>T (p.Val302Phe) c.*700G>T (n.*700G>T) c.622G>T (p.Val208Phe) c.*824G>T (n.*824G>T) c.862G>T (p.Val288Phe) c.*689G>T (n.*689G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.43122729T>A | CA173960 | POMK | c.905T>A (p.Val302Asp) c.*701T>A (n.*701T>A) c.623T>A (p.Val208Asp) c.*825T>A (n.*825T>A) c.863T>A (p.Val288Asp) c.*690T>A (n.*690T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122729T>C | CA371122936 | POMK | c.905T>C (p.Val302Ala) c.*701T>C (n.*701T>C) c.623T>C (p.Val208Ala) c.*825T>C (n.*825T>C) c.863T>C (p.Val288Ala) c.*690T>C (n.*690T>C) | COSMIC COSMIC |
| 8 | g.43122729T>G | CA371122937 | POMK | c.905T>G (p.Val302Gly) c.*701T>G (n.*701T>G) c.623T>G (p.Val208Gly) c.*825T>G (n.*825T>G) c.863T>G (p.Val288Gly) c.*690T>G (n.*690T>G) | |
| 8 | g.43122729T= | CA1779747909 | POMK | c.905T= (p.Val302=) c.*701T= (n.*701T=) c.623T= (p.Val208=) c.*825T= (n.*825T=) c.863T= (p.Val288=) c.*690T= (n.*690T=) | |
| 8 | g.43122730C>A | CA460787427 | POMK | c.906C>A (p.Val302=) c.*702C>A (n.*702C>A) c.624C>A (p.Val208=) c.*826C>A (n.*826C>A) c.864C>A (p.Val288=) c.*691C>A (n.*691C>A) | |
| 8 | g.43122730C= | CA1779747915 | POMK | c.906C= (p.Val302=) c.*702C= (n.*702C=) c.624C= (p.Val208=) c.*826C= (n.*826C=) c.864C= (p.Val288=) c.*691C= (n.*691C=) | |
| 8 | g.43122730C>G | CA460787428 | POMK | c.906C>G (p.Val302=) c.*702C>G (n.*702C>G) c.624C>G (p.Val208=) c.*826C>G (n.*826C>G) c.864C>G (p.Val288=) c.*691C>G (n.*691C>G) | |
| 8 | g.43122730C>T | CA460787429 | POMK | c.906C>T (p.Val302=) c.*702C>T (n.*702C>T) c.624C>T (p.Val208=) c.*826C>T (n.*826C>T) c.864C>T (p.Val288=) c.*691C>T (n.*691C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122731C>A | CA460787430 | POMK | c.907C>A (p.Arg303=) c.*703C>A (n.*703C>A) c.625C>A (p.Arg209=) c.*827C>A (n.*827C>A) c.865C>A (p.Arg289=) c.*692C>A (n.*692C>A) | |
| 8 | g.43122731C= | CA1779747919 | POMK | c.907C= (p.Arg303=) c.*703C= (n.*703C=) c.625C= (p.Arg209=) c.*827C= (n.*827C=) c.865C= (p.Arg289=) c.*692C= (n.*692C=) | |
| 8 | g.43122731C>G | CA371122938 | POMK | c.907C>G (p.Arg303Gly) c.*703C>G (n.*703C>G) c.625C>G (p.Arg209Gly) c.*827C>G (n.*827C>G) c.865C>G (p.Arg289Gly) c.*692C>G (n.*692C>G) | |
| 8 | g.43122731C>T | CA4736375 | POMK | c.907C>T (p.Arg303Ter) c.*703C>T (n.*703C>T) c.625C>T (p.Arg209Ter) c.*827C>T (n.*827C>T) c.865C>T (p.Arg289Ter) c.*692C>T (n.*692C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122732G>A | CA4736376 | POMK | c.908G>A (p.Arg303Gln) c.*704G>A (n.*704G>A) c.626G>A (p.Arg209Gln) c.*828G>A (n.*828G>A) c.866G>A (p.Arg289Gln) c.*693G>A (n.*693G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122732G>C | CA371122940 | POMK | c.908G>C (p.Arg303Pro) c.*704G>C (n.*704G>C) c.626G>C (p.Arg209Pro) c.*828G>C (n.*828G>C) c.866G>C (p.Arg289Pro) c.*693G>C (n.*693G>C) | |
| 8 | g.43122732G= | CA1779747923 | POMK | c.908G= (p.Arg303=) c.*704G= (n.*704G=) c.626G= (p.Arg209=) c.*828G= (n.*828G=) c.866G= (p.Arg289=) c.*693G= (n.*693G=) | |
| 8 | g.43122732G>T | CA371122939 | POMK | c.908G>T (p.Arg303Leu) c.*704G>T (n.*704G>T) c.626G>T (p.Arg209Leu) c.*828G>T (n.*828G>T) c.866G>T (p.Arg289Leu) c.*693G>T (n.*693G>T) | |
| 8 | g.43122733A>C | CA460787432 | POMK | c.909A>C (p.Arg303=) c.*705A>C (n.*705A>C) c.627A>C (p.Arg209=) c.*829A>C (n.*829A>C) c.867A>C (p.Arg289=) c.*694A>C (n.*694A>C) | |
| 8 | g.43122733A>G | CA460787433 | POMK | c.909A>G (p.Arg303=) c.*705A>G (n.*705A>G) c.627A>G (p.Arg209=) c.*829A>G (n.*829A>G) c.867A>G (p.Arg289=) c.*694A>G (n.*694A>G) | |
| 8 | g.43122733A>T | CA460787434 | POMK | c.909A>T (p.Arg303=) c.*705A>T (n.*705A>T) c.627A>T (p.Arg209=) c.*829A>T (n.*829A>T) c.867A>T (p.Arg289=) c.*694A>T (n.*694A>T) | |
| 8 | g.43122734T>A | CA371122941 | POMK | c.910T>A (p.Phe304Ile) c.*706T>A (n.*706T>A) c.628T>A (p.Phe210Ile) c.*830T>A (n.*830T>A) c.868T>A (p.Phe290Ile) c.*695T>A (n.*695T>A) | |
| 8 | g.43122734T>C | CA4736377 | POMK | c.910T>C (p.Phe304Leu) c.*706T>C (n.*706T>C) c.628T>C (p.Phe210Leu) c.*830T>C (n.*830T>C) c.868T>C (p.Phe290Leu) c.*695T>C (n.*695T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122734T>G | CA371122942 | POMK | c.910T>G (p.Phe304Val) c.*706T>G (n.*706T>G) c.628T>G (p.Phe210Val) c.*830T>G (n.*830T>G) c.868T>G (p.Phe290Val) c.*695T>G (n.*695T>G) | |
| 8 | g.43122734T= | CA1779747931 | POMK | c.910T= (p.Phe304=) c.*706T= (n.*706T=) c.628T= (p.Phe210=) c.*830T= (n.*830T=) c.868T= (p.Phe290=) c.*695T= (n.*695T=) | |
| 8 | g.43122735T>A | CA371122943 | POMK | c.911T>A (p.Phe304Tyr) c.*707T>A (n.*707T>A) c.629T>A (p.Phe210Tyr) c.*831T>A (n.*831T>A) c.869T>A (p.Phe290Tyr) c.*696T>A (n.*696T>A) | |
| 8 | g.43122735T>C | CA371122945 | POMK | c.911T>C (p.Phe304Ser) c.*707T>C (n.*707T>C) c.629T>C (p.Phe210Ser) c.*831T>C (n.*831T>C) c.869T>C (p.Phe290Ser) c.*696T>C (n.*696T>C) | |
| 8 | g.43122735T>G | CA371122944 | POMK | c.911T>G (p.Phe304Cys) c.*707T>G (n.*707T>G) c.629T>G (p.Phe210Cys) c.*831T>G (n.*831T>G) c.869T>G (p.Phe290Cys) c.*696T>G (n.*696T>G) | |
| 8 | g.43122736C>A | CA371122946 | POMK | c.912C>A (p.Phe304Leu) c.*708C>A (n.*708C>A) c.630C>A (p.Phe210Leu) c.*832C>A (n.*832C>A) c.870C>A (p.Phe290Leu) c.*697C>A (n.*697C>A) | |
| 8 | g.43122736C>G | CA371122947 | POMK | c.912C>G (p.Phe304Leu) c.*708C>G (n.*708C>G) c.630C>G (p.Phe210Leu) c.*832C>G (n.*832C>G) c.870C>G (p.Phe290Leu) c.*697C>G (n.*697C>G) | |
| 8 | g.43122736C>T | CA460787439 | POMK | c.912C>T (p.Phe304=) c.*708C>T (n.*708C>T) c.630C>T (p.Phe210=) c.*832C>T (n.*832C>T) c.870C>T (p.Phe290=) c.*697C>T (n.*697C>T) | gnomAD v4 |
| 8 | g.43122737C>A | CA371122948 | POMK | c.913C>A (p.His305Asn) c.*709C>A (n.*709C>A) c.631C>A (p.His211Asn) c.*833C>A (n.*833C>A) c.871C>A (p.His291Asn) c.*698C>A (n.*698C>A) | |
| 8 | g.43122737C>G | CA371122949 | POMK | c.913C>G (p.His305Asp) c.*709C>G (n.*709C>G) c.631C>G (p.His211Asp) c.*833C>G (n.*833C>G) c.871C>G (p.His291Asp) c.*698C>G (n.*698C>G) | |
| 8 | g.43122737C>T | CA371122950 | POMK | c.913C>T (p.His305Tyr) c.*709C>T (n.*709C>T) c.631C>T (p.His211Tyr) c.*833C>T (n.*833C>T) c.871C>T (p.His291Tyr) c.*698C>T (n.*698C>T) | |
| 8 | g.43122738A= | CA1779747939 | POMK | c.914A= (p.His305=) c.*710A= (n.*710A=) c.632A= (p.His211=) c.*834A= (n.*834A=) c.872A= (p.His291=) c.*699A= (n.*699A=) | |
| 8 | g.43122738A>C | CA371122951 | POMK | c.914A>C (p.His305Pro) c.*710A>C (n.*710A>C) c.632A>C (p.His211Pro) c.*834A>C (n.*834A>C) c.872A>C (p.His291Pro) c.*699A>C (n.*699A>C) | |
| 8 | g.43122738A>G | CA4736378 | POMK | c.914A>G (p.His305Arg) c.*710A>G (n.*710A>G) c.632A>G (p.His211Arg) c.*834A>G (n.*834A>G) c.872A>G (p.His291Arg) c.*699A>G (n.*699A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122738A>T | CA371122952 | POMK | c.914A>T (p.His305Leu) c.*710A>T (n.*710A>T) c.632A>T (p.His211Leu) c.*834A>T (n.*834A>T) c.872A>T (p.His291Leu) c.*699A>T (n.*699A>T) | |
| 8 | g.43122739T>A | CA371122953 | POMK | c.915T>A (p.His305Gln) c.*711T>A (n.*711T>A) c.633T>A (p.His211Gln) c.*835T>A (n.*835T>A) c.873T>A (p.His291Gln) c.*700T>A (n.*700T>A) | |
| 8 | g.43122739T>C | CA460787441 | POMK | c.915T>C (p.His305=) c.*711T>C (n.*711T>C) c.633T>C (p.His211=) c.*835T>C (n.*835T>C) c.873T>C (p.His291=) c.*700T>C (n.*700T>C) | |
| 8 | g.43122739T>G | CA371122954 | POMK | c.915T>G (p.His305Gln) c.*711T>G (n.*711T>G) c.633T>G (p.His211Gln) c.*835T>G (n.*835T>G) c.873T>G (p.His291Gln) c.*700T>G (n.*700T>G) | |
| 8 | g.43122741dup | CA10603099 | POMK | c.917dup (p.Leu306PhefsTer3) c.*713dup (n.*713dup) c.635dup (p.Leu212PhefsTer3) c.*837dup (n.*837dup) c.875dup (p.Leu292PhefsTer3) c.*702dup (n.*702dup) | ClinVar dbSNP |
| 8 | g.43122740T>A | CA371122955 | POMK | c.916T>A (p.Leu306Met) c.*712T>A (n.*712T>A) c.634T>A (p.Leu212Met) c.*836T>A (n.*836T>A) c.874T>A (p.Leu292Met) c.*701T>A (n.*701T>A) | |
| 8 | g.43122740T>C | CA460787442 | POMK | c.916T>C (p.Leu306=) c.*712T>C (n.*712T>C) c.634T>C (p.Leu212=) c.*836T>C (n.*836T>C) c.874T>C (p.Leu292=) c.*701T>C (n.*701T>C) | |
| 8 | g.43122740T>G | CA371122956 | POMK | c.916T>G (p.Leu306Val) c.*712T>G (n.*712T>G) c.634T>G (p.Leu212Val) c.*836T>G (n.*836T>G) c.874T>G (p.Leu292Val) c.*701T>G (n.*701T>G) | |
| 8 | g.43122741T>A | CA371122959 | POMK | c.917T>A (p.Leu306Ter) c.*713T>A (n.*713T>A) c.635T>A (p.Leu212Ter) c.*837T>A (n.*837T>A) c.875T>A (p.Leu292Ter) c.*702T>A (n.*702T>A) | |
| 8 | g.43122741T>C | CA371122958 | POMK | c.917T>C (p.Leu306Ser) c.*713T>C (n.*713T>C) c.635T>C (p.Leu212Ser) c.*837T>C (n.*837T>C) c.875T>C (p.Leu292Ser) c.*702T>C (n.*702T>C) | |
| 8 | g.43122741T>G | CA371122957 | POMK | c.917T>G (p.Leu306Trp) c.*713T>G (n.*713T>G) c.635T>G (p.Leu212Trp) c.*837T>G (n.*837T>G) c.875T>G (p.Leu292Trp) c.*702T>G (n.*702T>G) | |
| 8 | g.43122742G>A | CA460787447 | POMK | c.918G>A (p.Leu306=) c.*714G>A (n.*714G>A) c.636G>A (p.Leu212=) c.*838G>A (n.*838G>A) c.876G>A (p.Leu292=) c.*703G>A (n.*703G>A) | |
| 8 | g.43122742G>C | CA371122960 | POMK | c.918G>C (p.Leu306Phe) c.*714G>C (n.*714G>C) c.636G>C (p.Leu212Phe) c.*838G>C (n.*838G>C) c.876G>C (p.Leu292Phe) c.*703G>C (n.*703G>C) | |
| 8 | g.43122742G>T | CA371122961 | POMK | c.918G>T (p.Leu306Phe) c.*714G>T (n.*714G>T) c.636G>T (p.Leu212Phe) c.*838G>T (n.*838G>T) c.876G>T (p.Leu292Phe) c.*703G>T (n.*703G>T) | |
| 8 | g.43122743T>A | CA371122962 | POMK | c.919T>A (p.Phe307Ile) c.*715T>A (n.*715T>A) c.637T>A (p.Phe213Ile) c.*839T>A (n.*839T>A) c.877T>A (p.Phe293Ile) c.*704T>A (n.*704T>A) | |
| 8 | g.43122743T>C | CA176080751 | POMK | c.919T>C (p.Phe307Leu) c.*715T>C (n.*715T>C) c.637T>C (p.Phe213Leu) c.*839T>C (n.*839T>C) c.877T>C (p.Phe293Leu) c.*704T>C (n.*704T>C) | dbSNP |
| 8 | g.43122743T>G | CA371122963 | POMK | c.919T>G (p.Phe307Val) c.*715T>G (n.*715T>G) c.637T>G (p.Phe213Val) c.*839T>G (n.*839T>G) c.877T>G (p.Phe293Val) c.*704T>G (n.*704T>G) | |
| 8 | g.43122743T= | CA1779747950 | POMK | c.919T= (p.Phe307=) c.*715T= (n.*715T=) c.637T= (p.Phe213=) c.*839T= (n.*839T=) c.877T= (p.Phe293=) c.*704T= (n.*704T=) | |
| 8 | g.43122744T>A | CA371122964 | POMK | c.920T>A (p.Phe307Tyr) c.*716T>A (n.*716T>A) c.638T>A (p.Phe213Tyr) c.*840T>A (n.*840T>A) c.878T>A (p.Phe293Tyr) c.*705T>A (n.*705T>A) | |
| 8 | g.43122744T>C | CA371122965 | POMK | c.920T>C (p.Phe307Ser) c.*716T>C (n.*716T>C) c.638T>C (p.Phe213Ser) c.*840T>C (n.*840T>C) c.878T>C (p.Phe293Ser) c.*705T>C (n.*705T>C) | gnomAD v4 |
| 8 | g.43122744T>G | CA371122966 | POMK | c.920T>G (p.Phe307Cys) c.*716T>G (n.*716T>G) c.638T>G (p.Phe213Cys) c.*840T>G (n.*840T>G) c.878T>G (p.Phe293Cys) c.*705T>G (n.*705T>G) | |
| 8 | g.43122745T>A | CA371122967 | POMK | c.921T>A (p.Phe307Leu) c.*717T>A (n.*717T>A) c.639T>A (p.Phe213Leu) c.*841T>A (n.*841T>A) c.879T>A (p.Phe293Leu) c.*706T>A (n.*706T>A) | |
| 8 | g.43122745T>C | CA460787449 | POMK | c.921T>C (p.Phe307=) c.*717T>C (n.*717T>C) c.639T>C (p.Phe213=) c.*841T>C (n.*841T>C) c.879T>C (p.Phe293=) c.*706T>C (n.*706T>C) | |
| 8 | g.43122745T>G | CA371122968 | POMK | c.921T>G (p.Phe307Leu) c.*717T>G (n.*717T>G) c.639T>G (p.Phe213Leu) c.*841T>G (n.*841T>G) c.879T>G (p.Phe293Leu) c.*706T>G (n.*706T>G) | |
| 8 | g.43122746G>A | CA371122969 | POMK | c.922G>A (p.Asp308Asn) c.*718G>A (n.*718G>A) c.640G>A (p.Asp214Asn) c.*842G>A (n.*842G>A) c.880G>A (p.Asp294Asn) c.*707G>A (n.*707G>A) | |
| 8 | g.43122746G>C | CA371122970 | POMK | c.922G>C (p.Asp308His) c.*718G>C (n.*718G>C) c.640G>C (p.Asp214His) c.*842G>C (n.*842G>C) c.880G>C (p.Asp294His) c.*707G>C (n.*707G>C) | |
| 8 | g.43122746G>T | CA371122971 | POMK | c.922G>T (p.Asp308Tyr) c.*718G>T (n.*718G>T) c.640G>T (p.Asp214Tyr) c.*842G>T (n.*842G>T) c.880G>T (p.Asp294Tyr) c.*707G>T (n.*707G>T) | gnomAD v4 |
| 8 | g.43122747A>C | CA371122973 | POMK | c.923A>C (p.Asp308Ala) c.*719A>C (n.*719A>C) c.641A>C (p.Asp214Ala) c.*843A>C (n.*843A>C) c.881A>C (p.Asp294Ala) c.*708A>C (n.*708A>C) | |
| 8 | g.43122747A>G | CA371122974 | POMK | c.923A>G (p.Asp308Gly) c.*719A>G (n.*719A>G) c.641A>G (p.Asp214Gly) c.*843A>G (n.*843A>G) c.881A>G (p.Asp294Gly) c.*708A>G (n.*708A>G) | gnomAD v4 |
| 8 | g.43122747A>T | CA371122972 | POMK | c.923A>T (p.Asp308Val) c.*719A>T (n.*719A>T) c.641A>T (p.Asp214Val) c.*843A>T (n.*843A>T) c.881A>T (p.Asp294Val) c.*708A>T (n.*708A>T) | |
| 8 | g.43122748T>A | CA371122975 | POMK | c.924T>A (p.Asp308Glu) c.*720T>A (n.*720T>A) c.642T>A (p.Asp214Glu) c.*844T>A (n.*844T>A) c.882T>A (p.Asp294Glu) c.*709T>A (n.*709T>A) | |
| 8 | g.43122748T>C | CA460787517 | POMK | c.924T>C (p.Asp308=) c.*720T>C (n.*720T>C) c.642T>C (p.Asp214=) c.*844T>C (n.*844T>C) c.882T>C (p.Asp294=) c.*709T>C (n.*709T>C) | |
| 8 | g.43122748T>G | CA371122976 | POMK | c.924T>G (p.Asp308Glu) c.*720T>G (n.*720T>G) c.642T>G (p.Asp214Glu) c.*844T>G (n.*844T>G) c.882T>G (p.Asp294Glu) c.*709T>G (n.*709T>G) |