| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.43122392A>C | CA371122195 | POMK | c.568A>C (p.Asn190His) c.*364A>C (n.*364A>C) c.286A>C (p.Asn96His) c.*488A>C (n.*488A>C) c.526A>C (p.Asn176His) c.*353A>C (n.*353A>C) | |
| 8 | g.43122392A>G | CA371122192 | POMK | c.568A>G (p.Asn190Asp) c.*364A>G (n.*364A>G) c.286A>G (p.Asn96Asp) c.*488A>G (n.*488A>G) c.526A>G (p.Asn176Asp) c.*353A>G (n.*353A>G) | |
| 8 | g.43122392A>T | CA371122193 | POMK | c.568A>T (p.Asn190Tyr) c.*364A>T (n.*364A>T) c.286A>T (p.Asn96Tyr) c.*488A>T (n.*488A>T) c.526A>T (p.Asn176Tyr) c.*353A>T (n.*353A>T) | |
| 8 | g.43122393A= | CA1779747313 | POMK | c.569A= (p.Asn190=) c.*365A= (n.*365A=) c.287A= (p.Asn96=) c.*489A= (n.*489A=) c.527A= (p.Asn176=) c.*354A= (n.*354A=) | |
| 8 | g.43122393A>C | CA371122196 | POMK | c.569A>C (p.Asn190Thr) c.*365A>C (n.*365A>C) c.287A>C (p.Asn96Thr) c.*489A>C (n.*489A>C) c.527A>C (p.Asn176Thr) c.*354A>C (n.*354A>C) | |
| 8 | g.43122393A>G | CA371122197 | POMK | c.569A>G (p.Asn190Ser) c.*365A>G (n.*365A>G) c.287A>G (p.Asn96Ser) c.*489A>G (n.*489A>G) c.527A>G (p.Asn176Ser) c.*354A>G (n.*354A>G) | dbSNP gnomAD v4 |
| 8 | g.43122393A>T | CA371122198 | POMK | c.569A>T (p.Asn190Ile) c.*365A>T (n.*365A>T) c.287A>T (p.Asn96Ile) c.*489A>T (n.*489A>T) c.527A>T (p.Asn176Ile) c.*354A>T (n.*354A>T) | |
| 8 | g.43122394T>A | CA371122199 | POMK | c.570T>A (p.Asn190Lys) c.*366T>A (n.*366T>A) c.288T>A (p.Asn96Lys) c.*490T>A (n.*490T>A) c.528T>A (p.Asn176Lys) c.*355T>A (n.*355T>A) | |
| 8 | g.43122394T>C | CA460787211 | POMK | c.570T>C (p.Asn190=) c.*366T>C (n.*366T>C) c.288T>C (p.Asn96=) c.*490T>C (n.*490T>C) c.528T>C (p.Asn176=) c.*355T>C (n.*355T>C) | |
| 8 | g.43122394T>G | CA371122200 | POMK | c.570T>G (p.Asn190Lys) c.*366T>G (n.*366T>G) c.288T>G (p.Asn96Lys) c.*490T>G (n.*490T>G) c.528T>G (p.Asn176Lys) c.*355T>G (n.*355T>G) | |
| 8 | g.43122395T>A | CA371122201 | POMK | c.571T>A (p.Tyr191Asn) c.*367T>A (n.*367T>A) c.289T>A (p.Tyr97Asn) c.*491T>A (n.*491T>A) c.529T>A (p.Tyr177Asn) c.*356T>A (n.*356T>A) | |
| 8 | g.43122395T>C | CA371122202 | POMK | c.571T>C (p.Tyr191His) c.*367T>C (n.*367T>C) c.289T>C (p.Tyr97His) c.*491T>C (n.*491T>C) c.529T>C (p.Tyr177His) c.*356T>C (n.*356T>C) | |
| 8 | g.43122395T>G | CA371122203 | POMK | c.571T>G (p.Tyr191Asp) c.*367T>G (n.*367T>G) c.289T>G (p.Tyr97Asp) c.*491T>G (n.*491T>G) c.529T>G (p.Tyr177Asp) c.*356T>G (n.*356T>G) | dbSNP |
| 8 | g.43122396A= | CA1779747315 | POMK | c.572A= (p.Tyr191=) c.*368A= (n.*368A=) c.290A= (p.Tyr97=) c.*492A= (n.*492A=) c.530A= (p.Tyr177=) c.*357A= (n.*357A=) | |
| 8 | g.43122396A>C | CA371122204 | POMK | c.572A>C (p.Tyr191Ser) c.*368A>C (n.*368A>C) c.290A>C (p.Tyr97Ser) c.*492A>C (n.*492A>C) c.530A>C (p.Tyr177Ser) c.*357A>C (n.*357A>C) | dbSNP |
| 8 | g.43122396A>G | CA371122205 | POMK | c.572A>G (p.Tyr191Cys) c.*368A>G (n.*368A>G) c.290A>G (p.Tyr97Cys) c.*492A>G (n.*492A>G) c.530A>G (p.Tyr177Cys) c.*357A>G (n.*357A>G) | |
| 8 | g.43122396A>T | CA371122206 | POMK | c.572A>T (p.Tyr191Phe) c.*368A>T (n.*368A>T) c.290A>T (p.Tyr97Phe) c.*492A>T (n.*492A>T) c.530A>T (p.Tyr177Phe) c.*357A>T (n.*357A>T) | |
| 8 | g.43122397C>A | CA371122207 | POMK | c.573C>A (p.Tyr191Ter) c.*369C>A (n.*369C>A) c.291C>A (p.Tyr97Ter) c.*493C>A (n.*493C>A) c.531C>A (p.Tyr177Ter) c.*358C>A (n.*358C>A) | |
| 8 | g.43122397C>G | CA371122208 | POMK | c.573C>G (p.Tyr191Ter) c.*369C>G (n.*369C>G) c.291C>G (p.Tyr97Ter) c.*493C>G (n.*493C>G) c.531C>G (p.Tyr177Ter) c.*358C>G (n.*358C>G) | |
| 8 | g.43122397C>T | CA460787212 | POMK | c.573C>T (p.Tyr191=) c.*369C>T (n.*369C>T) c.291C>T (p.Tyr97=) c.*493C>T (n.*493C>T) c.531C>T (p.Tyr177=) c.*358C>T (n.*358C>T) | |
| 8 | g.43122398C>A | CA371122209 | POMK | c.574C>A (p.Leu192Met) c.*370C>A (n.*370C>A) c.292C>A (p.Leu98Met) c.*494C>A (n.*494C>A) c.532C>A (p.Leu178Met) c.*359C>A (n.*359C>A) | |
| 8 | g.43122398C>G | CA371122210 | POMK | c.574C>G (p.Leu192Val) c.*370C>G (n.*370C>G) c.292C>G (p.Leu98Val) c.*494C>G (n.*494C>G) c.532C>G (p.Leu178Val) c.*359C>G (n.*359C>G) | COSMIC COSMIC |
| 8 | g.43122398C>T | CA460787213 | POMK | c.574C>T (p.Leu192=) c.*370C>T (n.*370C>T) c.292C>T (p.Leu98=) c.*494C>T (n.*494C>T) c.532C>T (p.Leu178=) c.*359C>T (n.*359C>T) | |
| 8 | g.43122399T>A | CA371122211 | POMK | c.575T>A (p.Leu192Gln) c.*371T>A (n.*371T>A) c.293T>A (p.Leu98Gln) c.*495T>A (n.*495T>A) c.533T>A (p.Leu178Gln) c.*360T>A (n.*360T>A) | |
| 8 | g.43122399T>C | CA371122212 | POMK | c.575T>C (p.Leu192Pro) c.*371T>C (n.*371T>C) c.293T>C (p.Leu98Pro) c.*495T>C (n.*495T>C) c.533T>C (p.Leu178Pro) c.*360T>C (n.*360T>C) | |
| 8 | g.43122399T>G | CA371122213 | POMK | c.575T>G (p.Leu192Arg) c.*371T>G (n.*371T>G) c.293T>G (p.Leu98Arg) c.*495T>G (n.*495T>G) c.533T>G (p.Leu178Arg) c.*360T>G (n.*360T>G) | |
| 8 | g.43122400G>A | CA460787214 | POMK | c.576G>A (p.Leu192=) c.*372G>A (n.*372G>A) c.294G>A (p.Leu98=) c.*496G>A (n.*496G>A) c.534G>A (p.Leu178=) c.*361G>A (n.*361G>A) | ClinVar dbSNP gnomAD v2 |
| 8 | g.43122400G>C | CA460787215 | POMK | c.576G>C (p.Leu192=) c.*372G>C (n.*372G>C) c.294G>C (p.Leu98=) c.*496G>C (n.*496G>C) c.534G>C (p.Leu178=) c.*361G>C (n.*361G>C) | |
| 8 | g.43122400G= | CA1779747318 | POMK | c.576G= (p.Leu192=) c.*372G= (n.*372G=) c.294G= (p.Leu98=) c.*496G= (n.*496G=) c.534G= (p.Leu178=) c.*361G= (n.*361G=) | |
| 8 | g.43122400G>T | CA460787216 | POMK | c.576G>T (p.Leu192=) c.*372G>T (n.*372G>T) c.294G>T (p.Leu98=) c.*496G>T (n.*496G>T) c.534G>T (p.Leu178=) c.*361G>T (n.*361G>T) | gnomAD v4 |
| 8 | g.43122401C>A | CA371122214 | POMK | c.577C>A (p.His193Asn) c.*373C>A (n.*373C>A) c.295C>A (p.His99Asn) c.*497C>A (n.*497C>A) c.535C>A (p.His179Asn) c.*362C>A (n.*362C>A) | |
| 8 | g.43122401C>G | CA371122215 | POMK | c.577C>G (p.His193Asp) c.*373C>G (n.*373C>G) c.295C>G (p.His99Asp) c.*497C>G (n.*497C>G) c.535C>G (p.His179Asp) c.*362C>G (n.*362C>G) | ClinVar |
| 8 | g.43122401C>T | CA371122216 | POMK | c.577C>T (p.His193Tyr) c.*373C>T (n.*373C>T) c.295C>T (p.His99Tyr) c.*497C>T (n.*497C>T) c.535C>T (p.His179Tyr) c.*362C>T (n.*362C>T) | |
| 8 | g.43122402A>C | CA371122217 | POMK | c.578A>C (p.His193Pro) c.*374A>C (n.*374A>C) c.296A>C (p.His99Pro) c.*498A>C (n.*498A>C) c.536A>C (p.His179Pro) c.*363A>C (n.*363A>C) | |
| 8 | g.43122402A>G | CA371122218 | POMK | c.578A>G (p.His193Arg) c.*374A>G (n.*374A>G) c.296A>G (p.His99Arg) c.*498A>G (n.*498A>G) c.536A>G (p.His179Arg) c.*363A>G (n.*363A>G) | |
| 8 | g.43122402A>T | CA371122219 | POMK | c.578A>T (p.His193Leu) c.*374A>T (n.*374A>T) c.296A>T (p.His99Leu) c.*498A>T (n.*498A>T) c.536A>T (p.His179Leu) c.*363A>T (n.*363A>T) | |
| 8 | g.43122403C>A | CA371122220 | POMK | c.579C>A (p.His193Gln) c.*375C>A (n.*375C>A) c.297C>A (p.His99Gln) c.*499C>A (n.*499C>A) c.537C>A (p.His179Gln) c.*364C>A (n.*364C>A) | gnomAD v4 |
| 8 | g.43122403C= | CA1779747322 | POMK | c.579C= (p.His193=) c.*375C= (n.*375C=) c.297C= (p.His99=) c.*499C= (n.*499C=) c.537C= (p.His179=) c.*364C= (n.*364C=) | |
| 8 | g.43122403C>G | CA371122221 | POMK | c.579C>G (p.His193Gln) c.*375C>G (n.*375C>G) c.297C>G (p.His99Gln) c.*499C>G (n.*499C>G) c.537C>G (p.His179Gln) c.*364C>G (n.*364C>G) | |
| 8 | g.43122403C>T | CA4736305 | POMK | c.579C>T (p.His193=) c.*375C>T (n.*375C>T) c.297C>T (p.His99=) c.*499C>T (n.*499C>T) c.537C>T (p.His179=) c.*364C>T (n.*364C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122404C>A | CA371122222 | POMK | c.580C>A (p.His194Asn) c.*376C>A (n.*376C>A) c.298C>A (p.His100Asn) c.*500C>A (n.*500C>A) c.538C>A (p.His180Asn) c.*365C>A (n.*365C>A) | gnomAD v4 |
| 8 | g.43122404C= | CA1779747325 | POMK | c.580C= (p.His194=) c.*376C= (n.*376C=) c.298C= (p.His100=) c.*500C= (n.*500C=) c.538C= (p.His180=) c.*365C= (n.*365C=) | |
| 8 | g.43122404C>G | CA371122223 | POMK | c.580C>G (p.His194Asp) c.*376C>G (n.*376C>G) c.298C>G (p.His100Asp) c.*500C>G (n.*500C>G) c.538C>G (p.His180Asp) c.*365C>G (n.*365C>G) | |
| 8 | g.43122404C>T | CA4736306 | POMK | c.580C>T (p.His194Tyr) c.*376C>T (n.*376C>T) c.298C>T (p.His100Tyr) c.*500C>T (n.*500C>T) c.538C>T (p.His180Tyr) c.*365C>T (n.*365C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122405A= | CA1779747328 | POMK | c.581A= (p.His194=) c.*377A= (n.*377A=) c.299A= (p.His100=) c.*501A= (n.*501A=) c.539A= (p.His180=) c.*366A= (n.*366A=) | |
| 8 | g.43122405A>C | CA371122224 | POMK | c.581A>C (p.His194Pro) c.*377A>C (n.*377A>C) c.299A>C (p.His100Pro) c.*501A>C (n.*501A>C) c.539A>C (p.His180Pro) c.*366A>C (n.*366A>C) | |
| 8 | g.43122405A>G | CA371122225 | POMK | c.581A>G (p.His194Arg) c.*377A>G (n.*377A>G) c.299A>G (p.His100Arg) c.*501A>G (n.*501A>G) c.539A>G (p.His180Arg) c.*366A>G (n.*366A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.43122405A>T | CA4736307 | POMK | c.581A>T (p.His194Leu) c.*377A>T (n.*377A>T) c.299A>T (p.His100Leu) c.*501A>T (n.*501A>T) c.539A>T (p.His180Leu) c.*366A>T (n.*366A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.43122406C>A | CA371122226 | POMK | c.582C>A (p.His194Gln) c.*378C>A (n.*378C>A) c.300C>A (p.His100Gln) c.*502C>A (n.*502C>A) c.540C>A (p.His180Gln) c.*367C>A (n.*367C>A) | |
| 8 | g.43122406C= | CA1779747331 | POMK | c.582C= (p.His194=) c.*378C= (n.*378C=) c.300C= (p.His100=) c.*502C= (n.*502C=) c.540C= (p.His180=) c.*367C= (n.*367C=) | |
| 8 | g.43122406C>G | CA4736308 | POMK | c.582C>G (p.His194Gln) c.*378C>G (n.*378C>G) c.300C>G (p.His100Gln) c.*502C>G (n.*502C>G) c.540C>G (p.His180Gln) c.*367C>G (n.*367C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.43122406C>T | CA460787217 | POMK | c.582C>T (p.His194=) c.*378C>T (n.*378C>T) c.300C>T (p.His100=) c.*502C>T (n.*502C>T) c.540C>T (p.His180=) c.*367C>T (n.*367C>T) | dbSNP gnomAD v4 |
| 8 | g.43122407A>C | CA371122227 | POMK | c.583A>C (p.Ser195Arg) c.*379A>C (n.*379A>C) c.301A>C (p.Ser101Arg) c.*503A>C (n.*503A>C) c.541A>C (p.Ser181Arg) c.*368A>C (n.*368A>C) | |
| 8 | g.43122407A>G | CA371122228 | POMK | c.583A>G (p.Ser195Gly) c.*379A>G (n.*379A>G) c.301A>G (p.Ser101Gly) c.*503A>G (n.*503A>G) c.541A>G (p.Ser181Gly) c.*368A>G (n.*368A>G) | gnomAD v4 |
| 8 | g.43122407A>T | CA371122229 | POMK | c.583A>T (p.Ser195Cys) c.*379A>T (n.*379A>T) c.301A>T (p.Ser101Cys) c.*503A>T (n.*503A>T) c.541A>T (p.Ser181Cys) c.*368A>T (n.*368A>T) | |
| 8 | g.43122408G>A | CA371122230 | POMK | c.584G>A (p.Ser195Asn) c.*380G>A (n.*380G>A) c.302G>A (p.Ser101Asn) c.*504G>A (n.*504G>A) c.542G>A (p.Ser181Asn) c.*369G>A (n.*369G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 8 | g.43122408G>C | CA371122231 | POMK | c.584G>C (p.Ser195Thr) c.*380G>C (n.*380G>C) c.302G>C (p.Ser101Thr) c.*504G>C (n.*504G>C) c.542G>C (p.Ser181Thr) c.*369G>C (n.*369G>C) | |
| 8 | g.43122408G= | CA1779747335 | POMK | c.584G= (p.Ser195=) c.*380G= (n.*380G=) c.302G= (p.Ser101=) c.*504G= (n.*504G=) c.542G= (p.Ser181=) c.*369G= (n.*369G=) | |
| 8 | g.43122408G>T | CA371122232 | POMK | c.584G>T (p.Ser195Ile) c.*380G>T (n.*380G>T) c.302G>T (p.Ser101Ile) c.*504G>T (n.*504G>T) c.542G>T (p.Ser181Ile) c.*369G>T (n.*369G>T) | |
| 8 | g.43122409_43122430del | CA2579158816 | POMK | c.585_606del (p.Pro196AlafsTer15) c.*381_*402del (n.*381_*402del) c.303_324del (p.Pro102AlafsTer15) c.*505_*526del (n.*505_*526del) c.543_564del (p.Pro182AlafsTer15) c.*370_*391del (n.*370_*391del) | |
| 8 | g.43122409C>A | CA4736309 | POMK | c.585C>A (p.Ser195Arg) c.*381C>A (n.*381C>A) c.303C>A (p.Ser101Arg) c.*505C>A (n.*505C>A) c.543C>A (p.Ser181Arg) c.*370C>A (n.*370C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.43122409C= | CA1779747338 | POMK | c.585C= (p.Ser195=) c.*381C= (n.*381C=) c.303C= (p.Ser101=) c.*505C= (n.*505C=) c.543C= (p.Ser181=) c.*370C= (n.*370C=) | |
| 8 | g.43122409C>G | CA371122233 | POMK | c.585C>G (p.Ser195Arg) c.*381C>G (n.*381C>G) c.303C>G (p.Ser101Arg) c.*505C>G (n.*505C>G) c.543C>G (p.Ser181Arg) c.*370C>G (n.*370C>G) | gnomAD v4 |
| 8 | g.43122409C>T | CA460787218 | POMK | c.585C>T (p.Ser195=) c.*381C>T (n.*381C>T) c.303C>T (p.Ser101=) c.*505C>T (n.*505C>T) c.543C>T (p.Ser181=) c.*370C>T (n.*370C>T) | dbSNP |
| 8 | g.43122409_43122412del | CA2687148295 | POMK | c.585_588del (p.Ser195ArgfsTer22) c.*381_*384del (n.*381_*384del) c.303_306del (p.Ser101ArgfsTer22) c.*505_*508del (n.*505_*508del) c.543_546del (p.Ser181ArgfsTer22) c.*370_*373del (n.*370_*373del) | gnomAD v4 |
| 8 | g.43122410C>A | CA371122234 | POMK | c.586C>A (p.Pro196Thr) c.*382C>A (n.*382C>A) c.304C>A (p.Pro102Thr) c.*506C>A (n.*506C>A) c.544C>A (p.Pro182Thr) c.*371C>A (n.*371C>A) | |
| 8 | g.43122410C>G | CA371122235 | POMK | c.586C>G (p.Pro196Ala) c.*382C>G (n.*382C>G) c.304C>G (p.Pro102Ala) c.*506C>G (n.*506C>G) c.544C>G (p.Pro182Ala) c.*371C>G (n.*371C>G) | |
| 8 | g.43122410C>T | CA371122236 | POMK | c.586C>T (p.Pro196Ser) c.*382C>T (n.*382C>T) c.304C>T (p.Pro102Ser) c.*506C>T (n.*506C>T) c.544C>T (p.Pro182Ser) c.*371C>T (n.*371C>T) | |
| 8 | g.43122411C>A | CA371122237 | POMK | c.587C>A (p.Pro196His) c.*383C>A (n.*383C>A) c.305C>A (p.Pro102His) c.*507C>A (n.*507C>A) c.545C>A (p.Pro182His) c.*372C>A (n.*372C>A) | |
| 8 | g.43122411C>G | CA371122238 | POMK | c.587C>G (p.Pro196Arg) c.*383C>G (n.*383C>G) c.305C>G (p.Pro102Arg) c.*507C>G (n.*507C>G) c.545C>G (p.Pro182Arg) c.*372C>G (n.*372C>G) | |
| 8 | g.43122411C>T | CA371122239 | POMK | c.587C>T (p.Pro196Leu) c.*383C>T (n.*383C>T) c.305C>T (p.Pro102Leu) c.*507C>T (n.*507C>T) c.545C>T (p.Pro182Leu) c.*372C>T (n.*372C>T) | gnomAD v3 gnomAD v4 |
| 8 | g.43122412T>A | CA460787220 | POMK | c.588T>A (p.Pro196=) c.*384T>A (n.*384T>A) c.306T>A (p.Pro102=) c.*508T>A (n.*508T>A) c.546T>A (p.Pro182=) c.*373T>A (n.*373T>A) | |
| 8 | g.43122412T>C | CA4736310 | POMK | c.588T>C (p.Pro196=) c.*384T>C (n.*384T>C) c.306T>C (p.Pro102=) c.*508T>C (n.*508T>C) c.546T>C (p.Pro182=) c.*373T>C (n.*373T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122412T>G | CA460787219 | POMK | c.588T>G (p.Pro196=) c.*384T>G (n.*384T>G) c.306T>G (p.Pro102=) c.*508T>G (n.*508T>G) c.546T>G (p.Pro182=) c.*373T>G (n.*373T>G) | |
| 8 | g.43122412T= | CA1779747341 | POMK | c.588T= (p.Pro196=) c.*384T= (n.*384T=) c.306T= (p.Pro102=) c.*508T= (n.*508T=) c.546T= (p.Pro182=) c.*373T= (n.*373T=) | |
| 8 | g.43122413G>A | CA371122240 | POMK | c.589G>A (p.Val197Met) c.*385G>A (n.*385G>A) c.307G>A (p.Val103Met) c.*509G>A (n.*509G>A) c.547G>A (p.Val183Met) c.*374G>A (n.*374G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.43122413G>C | CA371122241 | POMK | c.589G>C (p.Val197Leu) c.*385G>C (n.*385G>C) c.307G>C (p.Val103Leu) c.*509G>C (n.*509G>C) c.547G>C (p.Val183Leu) c.*374G>C (n.*374G>C) | |
| 8 | g.43122413G= | CA1779747348 | POMK | c.589G= (p.Val197=) c.*385G= (n.*385G=) c.307G= (p.Val103=) c.*509G= (n.*509G=) c.547G= (p.Val183=) c.*374G= (n.*374G=) | |
| 8 | g.43122413G>T | CA4736311 | POMK | c.589G>T (p.Val197Leu) c.*385G>T (n.*385G>T) c.307G>T (p.Val103Leu) c.*509G>T (n.*509G>T) c.547G>T (p.Val183Leu) c.*374G>T (n.*374G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122414T>A | CA371122242 | POMK | c.590T>A (p.Val197Glu) c.*386T>A (n.*386T>A) c.308T>A (p.Val103Glu) c.*510T>A (n.*510T>A) c.548T>A (p.Val183Glu) c.*375T>A (n.*375T>A) | |
| 8 | g.43122414T>C | CA371122243 | POMK | c.590T>C (p.Val197Ala) c.*386T>C (n.*386T>C) c.308T>C (p.Val103Ala) c.*510T>C (n.*510T>C) c.548T>C (p.Val183Ala) c.*375T>C (n.*375T>C) | gnomAD v4 |
| 8 | g.43122414T>G | CA371122244 | POMK | c.590T>G (p.Val197Gly) c.*386T>G (n.*386T>G) c.308T>G (p.Val103Gly) c.*510T>G (n.*510T>G) c.548T>G (p.Val183Gly) c.*375T>G (n.*375T>G) | |
| 8 | g.43122414_43122431del | CA2687148312 | POMK | c.590_607del (p.Val197_Cys203delinsGly) c.*386_*403del (n.*386_*403del) c.308_325del (p.Val103_Cys109delinsGly) c.*510_*527del (n.*510_*527del) c.548_565del (p.Val183_Cys189delinsGly) c.*375_*392del (n.*375_*392del) | gnomAD v4 |
| 8 | g.43122415G>A | CA460787221 | POMK | c.591G>A (p.Val197=) c.*387G>A (n.*387G>A) c.309G>A (p.Val103=) c.*511G>A (n.*511G>A) c.549G>A (p.Val183=) c.*376G>A (n.*376G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122415G>C | CA460787222 | POMK | c.591G>C (p.Val197=) c.*387G>C (n.*387G>C) c.309G>C (p.Val103=) c.*511G>C (n.*511G>C) c.549G>C (p.Val183=) c.*376G>C (n.*376G>C) | |
| 8 | g.43122415G= | CA1779747353 | POMK | c.591G= (p.Val197=) c.*387G= (n.*387G=) c.309G= (p.Val103=) c.*511G= (n.*511G=) c.549G= (p.Val183=) c.*376G= (n.*376G=) | |
| 8 | g.43122415G>T | CA4736312 | POMK | c.591G>T (p.Val197=) c.*387G>T (n.*387G>T) c.309G>T (p.Val103=) c.*511G>T (n.*511G>T) c.549G>T (p.Val183=) c.*376G>T (n.*376G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122416G>A | CA371122246 | POMK | c.592G>A (p.Gly198Ser) c.*388G>A (n.*388G>A) c.310G>A (p.Gly104Ser) c.*512G>A (n.*512G>A) c.550G>A (p.Gly184Ser) c.*377G>A (n.*377G>A) | |
| 8 | g.43122416G>C | CA371122245 | POMK | c.592G>C (p.Gly198Arg) c.*388G>C (n.*388G>C) c.310G>C (p.Gly104Arg) c.*512G>C (n.*512G>C) c.550G>C (p.Gly184Arg) c.*377G>C (n.*377G>C) | |
| 8 | g.43122416G>T | CA371122247 | POMK | c.592G>T (p.Gly198Cys) c.*388G>T (n.*388G>T) c.310G>T (p.Gly104Cys) c.*512G>T (n.*512G>T) c.550G>T (p.Gly184Cys) c.*377G>T (n.*377G>T) | |
| 8 | g.43122417G>A | CA371122248 | POMK | c.593G>A (p.Gly198Asp) c.*389G>A (n.*389G>A) c.311G>A (p.Gly104Asp) c.*513G>A (n.*513G>A) c.551G>A (p.Gly184Asp) c.*378G>A (n.*378G>A) | gnomAD v4 |
| 8 | g.43122417G>C | CA371122250 | POMK | c.593G>C (p.Gly198Ala) c.*389G>C (n.*389G>C) c.311G>C (p.Gly104Ala) c.*513G>C (n.*513G>C) c.551G>C (p.Gly184Ala) c.*378G>C (n.*378G>C) | |
| 8 | g.43122417G>T | CA371122249 | POMK | c.593G>T (p.Gly198Val) c.*389G>T (n.*389G>T) c.311G>T (p.Gly104Val) c.*513G>T (n.*513G>T) c.551G>T (p.Gly184Val) c.*378G>T (n.*378G>T) | |
| 8 | g.43122418C>A | CA460787223 | POMK | c.594C>A (p.Gly198=) c.*390C>A (n.*390C>A) c.312C>A (p.Gly104=) c.*514C>A (n.*514C>A) c.552C>A (p.Gly184=) c.*379C>A (n.*379C>A) | |
| 8 | g.43122418C= | CA1779747359 | POMK | c.594C= (p.Gly198=) c.*390C= (n.*390C=) c.312C= (p.Gly104=) c.*514C= (n.*514C=) c.552C= (p.Gly184=) c.*379C= (n.*379C=) | |
| 8 | g.43122418C>G | CA460787224 | POMK | c.594C>G (p.Gly198=) c.*390C>G (n.*390C>G) c.312C>G (p.Gly104=) c.*514C>G (n.*514C>G) c.552C>G (p.Gly184=) c.*379C>G (n.*379C>G) | |
| 8 | g.43122418C>T | CA460787225 | POMK | c.594C>T (p.Gly198=) c.*390C>T (n.*390C>T) c.312C>T (p.Gly104=) c.*514C>T (n.*514C>T) c.552C>T (p.Gly184=) c.*379C>T (n.*379C>T) | |
| 8 | g.43122419A>C | CA371122251 | POMK | c.595A>C (p.Thr199Pro) c.*391A>C (n.*391A>C) c.313A>C (p.Thr105Pro) c.*515A>C (n.*515A>C) c.553A>C (p.Thr185Pro) c.*380A>C (n.*380A>C) | |
| 8 | g.43122419A>G | CA371122252 | POMK | c.595A>G (p.Thr199Ala) c.*391A>G (n.*391A>G) c.313A>G (p.Thr105Ala) c.*515A>G (n.*515A>G) c.553A>G (p.Thr185Ala) c.*380A>G (n.*380A>G) | |
| 8 | g.43122419A>T | CA371122253 | POMK | c.595A>T (p.Thr199Ser) c.*391A>T (n.*391A>T) c.313A>T (p.Thr105Ser) c.*515A>T (n.*515A>T) c.553A>T (p.Thr185Ser) c.*380A>T (n.*380A>T) | |
| 8 | g.43122419dup | CA581929121 | POMK | c.595dup (p.Thr199AsnfsTer29) c.*391dup (n.*391dup) c.313dup (p.Thr105AsnfsTer29) c.*515dup (n.*515dup) c.553dup (p.Thr185AsnfsTer29) c.*380dup (n.*380dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122420C>A | CA371122254 | POMK | c.596C>A (p.Thr199Lys) c.*392C>A (n.*392C>A) c.314C>A (p.Thr105Lys) c.*516C>A (n.*516C>A) c.554C>A (p.Thr185Lys) c.*381C>A (n.*381C>A) | |
| 8 | g.43122420C>G | CA371122255 | POMK | c.596C>G (p.Thr199Arg) c.*392C>G (n.*392C>G) c.314C>G (p.Thr105Arg) c.*516C>G (n.*516C>G) c.554C>G (p.Thr185Arg) c.*381C>G (n.*381C>G) | |
| 8 | g.43122420C>T | CA371122256 | POMK | c.596C>T (p.Thr199Ile) c.*392C>T (n.*392C>T) c.314C>T (p.Thr105Ile) c.*516C>T (n.*516C>T) c.554C>T (p.Thr185Ile) c.*381C>T (n.*381C>T) | gnomAD v4 |
| 8 | g.43122421A>C | CA460787226 | POMK | c.597A>C (p.Thr199=) c.*393A>C (n.*393A>C) c.315A>C (p.Thr105=) c.*517A>C (n.*517A>C) c.555A>C (p.Thr185=) c.*382A>C (n.*382A>C) | |
| 8 | g.43122421A>G | CA460787227 | POMK | c.597A>G (p.Thr199=) c.*393A>G (n.*393A>G) c.315A>G (p.Thr105=) c.*517A>G (n.*517A>G) c.555A>G (p.Thr185=) c.*382A>G (n.*382A>G) | |
| 8 | g.43122421A>T | CA460787228 | POMK | c.597A>T (p.Thr199=) c.*393A>T (n.*393A>T) c.315A>T (p.Thr105=) c.*517A>T (n.*517A>T) c.555A>T (p.Thr185=) c.*382A>T (n.*382A>T) | |
| 8 | g.43122422C>A | CA460787229 | POMK | c.598C>A (p.Arg200=) c.*394C>A (n.*394C>A) c.316C>A (p.Arg106=) c.*518C>A (n.*518C>A) c.556C>A (p.Arg186=) c.*383C>A (n.*383C>A) | |
| 8 | g.43122422C= | CA1779747364 | POMK | c.598C= (p.Arg200=) c.*394C= (n.*394C=) c.316C= (p.Arg106=) c.*518C= (n.*518C=) c.556C= (p.Arg186=) c.*383C= (n.*383C=) | |
| 8 | g.43122422C>G | CA371122257 | POMK | c.598C>G (p.Arg200Gly) c.*394C>G (n.*394C>G) c.316C>G (p.Arg106Gly) c.*518C>G (n.*518C>G) c.556C>G (p.Arg186Gly) c.*383C>G (n.*383C>G) | |
| 8 | g.43122422C>T | CA4736313 | POMK | c.598C>T (p.Arg200Trp) c.*394C>T (n.*394C>T) c.316C>T (p.Arg106Trp) c.*518C>T (n.*518C>T) c.556C>T (p.Arg186Trp) c.*383C>T (n.*383C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122423G>A | CA4736314 | POMK | c.599G>A (p.Arg200Gln) c.*395G>A (n.*395G>A) c.317G>A (p.Arg106Gln) c.*519G>A (n.*519G>A) c.557G>A (p.Arg186Gln) c.*384G>A (n.*384G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122423G>C | CA371122258 | POMK | c.599G>C (p.Arg200Pro) c.*395G>C (n.*395G>C) c.317G>C (p.Arg106Pro) c.*519G>C (n.*519G>C) c.557G>C (p.Arg186Pro) c.*384G>C (n.*384G>C) | |
| 8 | g.43122423G= | CA1779747378 | POMK | c.599G= (p.Arg200=) c.*395G= (n.*395G=) c.317G= (p.Arg106=) c.*519G= (n.*519G=) c.557G= (p.Arg186=) c.*384G= (n.*384G=) | |
| 8 | g.43122423G>T | CA4736315 | POMK | c.599G>T (p.Arg200Leu) c.*395G>T (n.*395G>T) c.317G>T (p.Arg106Leu) c.*519G>T (n.*519G>T) c.557G>T (p.Arg186Leu) c.*384G>T (n.*384G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122424G>A | CA460787230 | POMK | c.600G>A (p.Arg200=) c.*396G>A (n.*396G>A) c.318G>A (p.Arg106=) c.*520G>A (n.*520G>A) c.558G>A (p.Arg186=) c.*385G>A (n.*385G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.43122424G>C | CA460787231 | POMK | c.600G>C (p.Arg200=) c.*396G>C (n.*396G>C) c.318G>C (p.Arg106=) c.*520G>C (n.*520G>C) c.558G>C (p.Arg186=) c.*385G>C (n.*385G>C) | |
| 8 | g.43122424G= | CA1779747388 | POMK | c.600G= (p.Arg200=) c.*396G= (n.*396G=) c.318G= (p.Arg106=) c.*520G= (n.*520G=) c.558G= (p.Arg186=) c.*385G= (n.*385G=) | |
| 8 | g.43122424G>T | CA460787232 | POMK | c.600G>T (p.Arg200=) c.*396G>T (n.*396G>T) c.318G>T (p.Arg106=) c.*520G>T (n.*520G>T) c.558G>T (p.Arg186=) c.*385G>T (n.*385G>T) | |
| 8 | g.43122425G>A | CA371122261 | POMK | c.601G>A (p.Val201Ile) c.*397G>A (n.*397G>A) c.319G>A (p.Val107Ile) c.*521G>A (n.*521G>A) c.559G>A (p.Val187Ile) c.*386G>A (n.*386G>A) | |
| 8 | g.43122425G>C | CA371122260 | POMK | c.601G>C (p.Val201Leu) c.*397G>C (n.*397G>C) c.319G>C (p.Val107Leu) c.*521G>C (n.*521G>C) c.559G>C (p.Val187Leu) c.*386G>C (n.*386G>C) | |
| 8 | g.43122425G>T | CA371122259 | POMK | c.601G>T (p.Val201Phe) c.*397G>T (n.*397G>T) c.319G>T (p.Val107Phe) c.*521G>T (n.*521G>T) c.559G>T (p.Val187Phe) c.*386G>T (n.*386G>T) | |
| 8 | g.43122426T>A | CA371122262 | POMK | c.602T>A (p.Val201Asp) c.*398T>A (n.*398T>A) c.320T>A (p.Val107Asp) c.*522T>A (n.*522T>A) c.560T>A (p.Val187Asp) c.*387T>A (n.*387T>A) | |
| 8 | g.43122426T>C | CA371122263 | POMK | c.602T>C (p.Val201Ala) c.*398T>C (n.*398T>C) c.320T>C (p.Val107Ala) c.*522T>C (n.*522T>C) c.560T>C (p.Val187Ala) c.*387T>C (n.*387T>C) | gnomAD v4 |
| 8 | g.43122426T>G | CA371122264 | POMK | c.602T>G (p.Val201Gly) c.*398T>G (n.*398T>G) c.320T>G (p.Val107Gly) c.*522T>G (n.*522T>G) c.560T>G (p.Val187Gly) c.*387T>G (n.*387T>G) | |
| 8 | g.43122427C>A | CA460787233 | POMK | c.603C>A (p.Val201=) c.*399C>A (n.*399C>A) c.321C>A (p.Val107=) c.*523C>A (n.*523C>A) c.561C>A (p.Val187=) c.*388C>A (n.*388C>A) | gnomAD v4 |
| 8 | g.43122427C>G | CA460787234 | POMK | c.603C>G (p.Val201=) c.*399C>G (n.*399C>G) c.321C>G (p.Val107=) c.*523C>G (n.*523C>G) c.561C>G (p.Val187=) c.*388C>G (n.*388C>G) | |
| 8 | g.43122427C>T | CA460787235 | POMK | c.603C>T (p.Val201=) c.*399C>T (n.*399C>T) c.321C>T (p.Val107=) c.*523C>T (n.*523C>T) c.561C>T (p.Val187=) c.*388C>T (n.*388C>T) | gnomAD v4 |
| 8 | g.43122428A>C | CA371122265 | POMK | c.604A>C (p.Met202Leu) c.*400A>C (n.*400A>C) c.322A>C (p.Met108Leu) c.*524A>C (n.*524A>C) c.562A>C (p.Met188Leu) c.*389A>C (n.*389A>C) | |
| 8 | g.43122428A>G | CA371122266 | POMK | c.604A>G (p.Met202Val) c.*400A>G (n.*400A>G) c.322A>G (p.Met108Val) c.*524A>G (n.*524A>G) c.562A>G (p.Met188Val) c.*389A>G (n.*389A>G) | |
| 8 | g.43122428A>T | CA371122267 | POMK | c.604A>T (p.Met202Leu) c.*400A>T (n.*400A>T) c.322A>T (p.Met108Leu) c.*524A>T (n.*524A>T) c.562A>T (p.Met188Leu) c.*389A>T (n.*389A>T) | |
| 8 | g.43122429T>A | CA371122268 | POMK | c.605T>A (p.Met202Lys) c.*401T>A (n.*401T>A) c.323T>A (p.Met108Lys) c.*525T>A (n.*525T>A) c.563T>A (p.Met188Lys) c.*390T>A (n.*390T>A) | |
| 8 | g.43122429T>C | CA4736316 | POMK | c.605T>C (p.Met202Thr) c.*401T>C (n.*401T>C) c.323T>C (p.Met108Thr) c.*525T>C (n.*525T>C) c.563T>C (p.Met188Thr) c.*390T>C (n.*390T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122429T>G | CA371122269 | POMK | c.605T>G (p.Met202Arg) c.*401T>G (n.*401T>G) c.323T>G (p.Met108Arg) c.*525T>G (n.*525T>G) c.563T>G (p.Met188Arg) c.*390T>G (n.*390T>G) | |
| 8 | g.43122429T= | CA1779747393 | POMK | c.605T= (p.Met202=) c.*401T= (n.*401T=) c.323T= (p.Met108=) c.*525T= (n.*525T=) c.563T= (p.Met188=) c.*390T= (n.*390T=) | |
| 8 | g.43122430G>A | CA371122270 | POMK | c.606G>A (p.Met202Ile) c.*402G>A (n.*402G>A) c.324G>A (p.Met108Ile) c.*526G>A (n.*526G>A) c.564G>A (p.Met188Ile) c.*391G>A (n.*391G>A) | gnomAD v4 |
| 8 | g.43122430G>C | CA371122271 | POMK | c.606G>C (p.Met202Ile) c.*402G>C (n.*402G>C) c.324G>C (p.Met108Ile) c.*526G>C (n.*526G>C) c.564G>C (p.Met188Ile) c.*391G>C (n.*391G>C) | |
| 8 | g.43122430G>T | CA371122272 | POMK | c.606G>T (p.Met202Ile) c.*402G>T (n.*402G>T) c.324G>T (p.Met108Ile) c.*526G>T (n.*526G>T) c.564G>T (p.Met188Ile) c.*391G>T (n.*391G>T) | |
| 8 | g.43122431T>A | CA371122275 | POMK | c.607T>A (p.Cys203Ser) c.*403T>A (n.*403T>A) c.325T>A (p.Cys109Ser) c.*527T>A (n.*527T>A) c.565T>A (p.Cys189Ser) c.*392T>A (n.*392T>A) | COSMIC COSMIC |
| 8 | g.43122431T>C | CA371122274 | POMK | c.607T>C (p.Cys203Arg) c.*403T>C (n.*403T>C) c.325T>C (p.Cys109Arg) c.*527T>C (n.*527T>C) c.565T>C (p.Cys189Arg) c.*392T>C (n.*392T>C) | |
| 8 | g.43122431T>G | CA371122273 | POMK | c.607T>G (p.Cys203Gly) c.*403T>G (n.*403T>G) c.325T>G (p.Cys109Gly) c.*527T>G (n.*527T>G) c.565T>G (p.Cys189Gly) c.*392T>G (n.*392T>G) | |
| 8 | g.43122432G>A | CA371122278 | POMK | c.608G>A (p.Cys203Tyr) c.*404G>A (n.*404G>A) c.326G>A (p.Cys109Tyr) c.*528G>A (n.*528G>A) c.566G>A (p.Cys189Tyr) c.*393G>A (n.*393G>A) | |
| 8 | g.43122432G>C | CA371122276 | POMK | c.608G>C (p.Cys203Ser) c.*404G>C (n.*404G>C) c.326G>C (p.Cys109Ser) c.*528G>C (n.*528G>C) c.566G>C (p.Cys189Ser) c.*393G>C (n.*393G>C) | |
| 8 | g.43122432G>T | CA371122277 | POMK | c.608G>T (p.Cys203Phe) c.*404G>T (n.*404G>T) c.326G>T (p.Cys109Phe) c.*528G>T (n.*528G>T) c.566G>T (p.Cys189Phe) c.*393G>T (n.*393G>T) | |
| 8 | g.43122433C>A | CA371122279 | POMK | c.609C>A (p.Cys203Ter) c.*405C>A (n.*405C>A) c.327C>A (p.Cys109Ter) c.*529C>A (n.*529C>A) c.567C>A (p.Cys189Ter) c.*394C>A (n.*394C>A) | |
| 8 | g.43122433C= | CA1779747397 | POMK | c.609C= (p.Cys203=) c.*405C= (n.*405C=) c.327C= (p.Cys109=) c.*529C= (n.*529C=) c.567C= (p.Cys189=) c.*394C= (n.*394C=) | |
| 8 | g.43122433C>G | CA371122280 | POMK | c.609C>G (p.Cys203Trp) c.*405C>G (n.*405C>G) c.327C>G (p.Cys109Trp) c.*529C>G (n.*529C>G) c.567C>G (p.Cys189Trp) c.*394C>G (n.*394C>G) | |
| 8 | g.43122433C>T | CA4736317 | POMK | c.609C>T (p.Cys203=) c.*405C>T (n.*405C>T) c.327C>T (p.Cys109=) c.*529C>T (n.*529C>T) c.567C>T (p.Cys189=) c.*394C>T (n.*394C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 8 | g.43122434G>A | CA4736318 | POMK | c.610G>A (p.Asp204Asn) c.*406G>A (n.*406G>A) c.328G>A (p.Asp110Asn) c.*530G>A (n.*530G>A) c.568G>A (p.Asp190Asn) c.*395G>A (n.*395G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.43122434G>C | CA371122281 | POMK | c.610G>C (p.Asp204His) c.*406G>C (n.*406G>C) c.328G>C (p.Asp110His) c.*530G>C (n.*530G>C) c.568G>C (p.Asp190His) c.*395G>C (n.*395G>C) | |
| 8 | g.43122434G= | CA1779747402 | POMK | c.610G= (p.Asp204=) c.*406G= (n.*406G=) c.328G= (p.Asp110=) c.*530G= (n.*530G=) c.568G= (p.Asp190=) c.*395G= (n.*395G=) | |
| 8 | g.43122434G>T | CA371122282 | POMK | c.610G>T (p.Asp204Tyr) c.*406G>T (n.*406G>T) c.328G>T (p.Asp110Tyr) c.*530G>T (n.*530G>T) c.568G>T (p.Asp190Tyr) c.*395G>T (n.*395G>T) | gnomAD v4 |
| 8 | g.43122435A>C | CA371122283 | POMK | c.611A>C (p.Asp204Ala) c.*407A>C (n.*407A>C) c.329A>C (p.Asp110Ala) c.*531A>C (n.*531A>C) c.569A>C (p.Asp190Ala) c.*396A>C (n.*396A>C) | |
| 8 | g.43122435A>G | CA371122284 | POMK | c.611A>G (p.Asp204Gly) c.*407A>G (n.*407A>G) c.329A>G (p.Asp110Gly) c.*531A>G (n.*531A>G) c.569A>G (p.Asp190Gly) c.*396A>G (n.*396A>G) | |
| 8 | g.43122435A>T | CA371122285 | POMK | c.611A>T (p.Asp204Val) c.*407A>T (n.*407A>T) c.329A>T (p.Asp110Val) c.*531A>T (n.*531A>T) c.569A>T (p.Asp190Val) c.*396A>T (n.*396A>T) | |
| 8 | g.43122436C>A | CA371122286 | POMK | c.612C>A (p.Asp204Glu) c.*408C>A (n.*408C>A) c.330C>A (p.Asp110Glu) c.*532C>A (n.*532C>A) c.570C>A (p.Asp190Glu) c.*397C>A (n.*397C>A) | |
| 8 | g.43122436C>G | CA371122287 | POMK | c.612C>G (p.Asp204Glu) c.*408C>G (n.*408C>G) c.330C>G (p.Asp110Glu) c.*532C>G (n.*532C>G) c.570C>G (p.Asp190Glu) c.*397C>G (n.*397C>G) | |
| 8 | g.43122436C>T | CA460787236 | POMK | c.612C>T (p.Asp204=) c.*408C>T (n.*408C>T) c.330C>T (p.Asp110=) c.*532C>T (n.*532C>T) c.570C>T (p.Asp190=) c.*397C>T (n.*397C>T) | |
| 8 | g.43122437T>A | CA371122290 | POMK | c.613T>A (p.Ser205Thr) c.*409T>A (n.*409T>A) c.331T>A (p.Ser111Thr) c.*533T>A (n.*533T>A) c.571T>A (p.Ser191Thr) c.*398T>A (n.*398T>A) | |
| 8 | g.43122437T>C | CA371122288 | POMK | c.613T>C (p.Ser205Pro) c.*409T>C (n.*409T>C) c.331T>C (p.Ser111Pro) c.*533T>C (n.*533T>C) c.571T>C (p.Ser191Pro) c.*398T>C (n.*398T>C) | |
| 8 | g.43122437T>G | CA371122289 | POMK | c.613T>G (p.Ser205Ala) c.*409T>G (n.*409T>G) c.331T>G (p.Ser111Ala) c.*533T>G (n.*533T>G) c.571T>G (p.Ser191Ala) c.*398T>G (n.*398T>G) | |
| 8 | g.43122438C>A | CA371122291 | POMK | c.614C>A (p.Ser205Tyr) c.*410C>A (n.*410C>A) c.332C>A (p.Ser111Tyr) c.*534C>A (n.*534C>A) c.572C>A (p.Ser191Tyr) c.*399C>A (n.*399C>A) | |
| 8 | g.43122438C= | CA1779747405 | POMK | c.614C= (p.Ser205=) c.*410C= (n.*410C=) c.332C= (p.Ser111=) c.*534C= (n.*534C=) c.572C= (p.Ser191=) c.*399C= (n.*399C=) | |
| 8 | g.43122438C>G | CA4736319 | POMK | c.614C>G (p.Ser205Cys) c.*410C>G (n.*410C>G) c.332C>G (p.Ser111Cys) c.*534C>G (n.*534C>G) c.572C>G (p.Ser191Cys) c.*399C>G (n.*399C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.43122438C>T | CA371122292 | POMK | c.614C>T (p.Ser205Phe) c.*410C>T (n.*410C>T) c.332C>T (p.Ser111Phe) c.*534C>T (n.*534C>T) c.572C>T (p.Ser191Phe) c.*399C>T (n.*399C>T) | |
| 8 | g.43122439dup | CA2695199724 | POMK | c.615dup (p.Asn206GlnfsTer22) c.*411dup (n.*411dup) c.333dup (p.Asn112GlnfsTer22) c.*535dup (n.*535dup) c.573dup (p.Asn192GlnfsTer22) c.*400dup (n.*400dup) | ClinVar |
| 8 | g.43122439C>A | CA460787237 | POMK | c.615C>A (p.Ser205=) c.*411C>A (n.*411C>A) c.333C>A (p.Ser111=) c.*535C>A (n.*535C>A) c.573C>A (p.Ser191=) c.*400C>A (n.*400C>A) | |
| 8 | g.43122439C= | CA1779747408 | POMK | c.615C= (p.Ser205=) c.*411C= (n.*411C=) c.333C= (p.Ser111=) c.*535C= (n.*535C=) c.573C= (p.Ser191=) c.*400C= (n.*400C=) | |
| 8 | g.43122439C>G | CA460787238 | POMK | c.615C>G (p.Ser205=) c.*411C>G (n.*411C>G) c.333C>G (p.Ser111=) c.*535C>G (n.*535C>G) c.573C>G (p.Ser191=) c.*400C>G (n.*400C>G) | |
| 8 | g.43122439C>T | CA4736320 | POMK | c.615C>T (p.Ser205=) c.*411C>T (n.*411C>T) c.333C>T (p.Ser111=) c.*535C>T (n.*535C>T) c.573C>T (p.Ser191=) c.*400C>T (n.*400C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.43122440A= | CA1779747411 | POMK | c.616A= (p.Asn206=) c.*412A= (n.*412A=) c.334A= (p.Asn112=) c.*536A= (n.*536A=) c.574A= (p.Asn192=) c.*401A= (n.*401A=) | |
| 8 | g.43122440A>C | CA371122293 | POMK | c.616A>C (p.Asn206His) c.*412A>C (n.*412A>C) c.334A>C (p.Asn112His) c.*536A>C (n.*536A>C) c.574A>C (p.Asn192His) c.*401A>C (n.*401A>C) | |
| 8 | g.43122440A>G | CA371122294 | POMK | c.616A>G (p.Asn206Asp) c.*412A>G (n.*412A>G) c.334A>G (p.Asn112Asp) c.*536A>G (n.*536A>G) c.574A>G (p.Asn192Asp) c.*401A>G (n.*401A>G) | dbSNP gnomAD v4 |
| 8 | g.43122440A>T | CA371122295 | POMK | c.616A>T (p.Asn206Tyr) c.*412A>T (n.*412A>T) c.334A>T (p.Asn112Tyr) c.*536A>T (n.*536A>T) c.574A>T (p.Asn192Tyr) c.*401A>T (n.*401A>T) | |
| 8 | g.43122441A= | CA1779747415 | POMK | c.617A= (p.Asn206=) c.*413A= (n.*413A=) c.335A= (p.Asn112=) c.*537A= (n.*537A=) c.575A= (p.Asn192=) c.*402A= (n.*402A=) | |
| 8 | g.43122441A>C | CA371122296 | POMK | c.617A>C (p.Asn206Thr) c.*413A>C (n.*413A>C) c.335A>C (p.Asn112Thr) c.*537A>C (n.*537A>C) c.575A>C (p.Asn192Thr) c.*402A>C (n.*402A>C) | |
| 8 | g.43122441A>G | CA4736321 | POMK | c.617A>G (p.Asn206Ser) c.*413A>G (n.*413A>G) c.335A>G (p.Asn112Ser) c.*537A>G (n.*537A>G) c.575A>G (p.Asn192Ser) c.*402A>G (n.*402A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122441A>T | CA371122297 | POMK | c.617A>T (p.Asn206Ile) c.*413A>T (n.*413A>T) c.335A>T (p.Asn112Ile) c.*537A>T (n.*537A>T) c.575A>T (p.Asn192Ile) c.*402A>T (n.*402A>T) | |
| 8 | g.43122442C>A | CA371122298 | POMK | c.618C>A (p.Asn206Lys) c.*414C>A (n.*414C>A) c.336C>A (p.Asn112Lys) c.*538C>A (n.*538C>A) c.576C>A (p.Asn192Lys) c.*403C>A (n.*403C>A) | gnomAD v4 |
| 8 | g.43122442C= | CA1779747420 | POMK | c.618C= (p.Asn206=) c.*414C= (n.*414C=) c.336C= (p.Asn112=) c.*538C= (n.*538C=) c.576C= (p.Asn192=) c.*403C= (n.*403C=) | |
| 8 | g.43122442C>G | CA371122299 | POMK | c.618C>G (p.Asn206Lys) c.*414C>G (n.*414C>G) c.336C>G (p.Asn112Lys) c.*538C>G (n.*538C>G) c.576C>G (p.Asn192Lys) c.*403C>G (n.*403C>G) | |
| 8 | g.43122442C>T | CA4736322 | POMK | c.618C>T (p.Asn206=) c.*414C>T (n.*414C>T) c.336C>T (p.Asn112=) c.*538C>T (n.*538C>T) c.576C>T (p.Asn192=) c.*403C>T (n.*403C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122443G>A | CA4736323 | POMK | c.619G>A (p.Asp207Asn) c.*415G>A (n.*415G>A) c.337G>A (p.Asp113Asn) c.*539G>A (n.*539G>A) c.577G>A (p.Asp193Asn) c.*404G>A (n.*404G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.43122443G>C | CA371122301 | POMK | c.619G>C (p.Asp207His) c.*415G>C (n.*415G>C) c.337G>C (p.Asp113His) c.*539G>C (n.*539G>C) c.577G>C (p.Asp193His) c.*404G>C (n.*404G>C) | |
| 8 | g.43122443G= | CA1779747428 | POMK | c.619G= (p.Asp207=) c.*415G= (n.*415G=) c.337G= (p.Asp113=) c.*539G= (n.*539G=) c.577G= (p.Asp193=) c.*404G= (n.*404G=) | |
| 8 | g.43122443G>T | CA371122300 | POMK | c.619G>T (p.Asp207Tyr) c.*415G>T (n.*415G>T) c.337G>T (p.Asp113Tyr) c.*539G>T (n.*539G>T) c.577G>T (p.Asp193Tyr) c.*404G>T (n.*404G>T) | |
| 8 | g.43122444A= | CA1779747433 | POMK | c.620A= (p.Asp207=) c.*416A= (n.*416A=) c.338A= (p.Asp113=) c.*540A= (n.*540A=) c.578A= (p.Asp193=) c.*405A= (n.*405A=) | |
| 8 | g.43122444A>C | CA371122302 | POMK | c.620A>C (p.Asp207Ala) c.*416A>C (n.*416A>C) c.338A>C (p.Asp113Ala) c.*540A>C (n.*540A>C) c.578A>C (p.Asp193Ala) c.*405A>C (n.*405A>C) | dbSNP gnomAD v4 |
| 8 | g.43122444A>G | CA4736324 | POMK | c.620A>G (p.Asp207Gly) c.*416A>G (n.*416A>G) c.338A>G (p.Asp113Gly) c.*540A>G (n.*540A>G) c.578A>G (p.Asp193Gly) c.*405A>G (n.*405A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122444A>T | CA371122303 | POMK | c.620A>T (p.Asp207Val) c.*416A>T (n.*416A>T) c.338A>T (p.Asp113Val) c.*540A>T (n.*540A>T) c.578A>T (p.Asp193Val) c.*405A>T (n.*405A>T) | |
| 8 | g.43122445C>A | CA371122304 | POMK | c.621C>A (p.Asp207Glu) c.*417C>A (n.*417C>A) c.339C>A (p.Asp113Glu) c.*541C>A (n.*541C>A) c.579C>A (p.Asp193Glu) c.*406C>A (n.*406C>A) | |
| 8 | g.43122445C= | CA1779747439 | POMK | c.621C= (p.Asp207=) c.*417C= (n.*417C=) c.339C= (p.Asp113=) c.*541C= (n.*541C=) c.579C= (p.Asp193=) c.*406C= (n.*406C=) | |
| 8 | g.43122445C>G | CA371122305 | POMK | c.621C>G (p.Asp207Glu) c.*417C>G (n.*417C>G) c.339C>G (p.Asp113Glu) c.*541C>G (n.*541C>G) c.579C>G (p.Asp193Glu) c.*406C>G (n.*406C>G) | |
| 8 | g.43122445C>T | CA460787239 | POMK | c.621C>T (p.Asp207=) c.*417C>T (n.*417C>T) c.339C>T (p.Asp113=) c.*541C>T (n.*541C>T) c.579C>T (p.Asp193=) c.*406C>T (n.*406C>T) | dbSNP |
| 8 | g.43122447_43122450del | CA2779904272 | POMK | c.623_626del (p.Leu208ArgfsTer9) c.*419_*422del (n.*419_*422del) c.341_344del (p.Leu114ArgfsTer9) c.*543_*546del (n.*543_*546del) c.581_584del (p.Leu194ArgfsTer9) c.*408_*411del (n.*408_*411del) | |
| 8 | g.43122446C>A | CA371122306 | POMK | c.622C>A (p.Leu208Met) c.*418C>A (n.*418C>A) c.340C>A (p.Leu114Met) c.*542C>A (n.*542C>A) c.580C>A (p.Leu194Met) c.*407C>A (n.*407C>A) | |
| 8 | g.43122446C= | CA1779747441 | POMK | c.622C= (p.Leu208=) c.*418C= (n.*418C=) c.340C= (p.Leu114=) c.*542C= (n.*542C=) c.580C= (p.Leu194=) c.*407C= (n.*407C=) | |
| 8 | g.43122446C>G | CA371122307 | POMK | c.622C>G (p.Leu208Val) c.*418C>G (n.*418C>G) c.340C>G (p.Leu114Val) c.*542C>G (n.*542C>G) c.580C>G (p.Leu194Val) c.*407C>G (n.*407C>G) | |
| 8 | g.43122446C>T | CA460787240 | POMK | c.622C>T (p.Leu208=) c.*418C>T (n.*418C>T) c.340C>T (p.Leu114=) c.*542C>T (n.*542C>T) c.580C>T (p.Leu194=) c.*407C>T (n.*407C>T) | ClinVar dbSNP gnomAD v4 |
| 8 | g.43122447T>A | CA371122308 | POMK | c.623T>A (p.Leu208Gln) c.*419T>A (n.*419T>A) c.341T>A (p.Leu114Gln) c.*543T>A (n.*543T>A) c.581T>A (p.Leu194Gln) c.*408T>A (n.*408T>A) | |
| 8 | g.43122447T>C | CA371122310 | POMK | c.623T>C (p.Leu208Pro) c.*419T>C (n.*419T>C) c.341T>C (p.Leu114Pro) c.*543T>C (n.*543T>C) c.581T>C (p.Leu194Pro) c.*408T>C (n.*408T>C) | |
| 8 | g.43122447T>G | CA371122309 | POMK | c.623T>G (p.Leu208Arg) c.*419T>G (n.*419T>G) c.341T>G (p.Leu114Arg) c.*543T>G (n.*543T>G) c.581T>G (p.Leu194Arg) c.*408T>G (n.*408T>G) | |
| 8 | g.43122448G>A | CA460787241 | POMK | c.624G>A (p.Leu208=) c.*420G>A (n.*420G>A) c.342G>A (p.Leu114=) c.*544G>A (n.*544G>A) c.582G>A (p.Leu194=) c.*409G>A (n.*409G>A) | |
| 8 | g.43122448G>C | CA4736325 | POMK | c.624G>C (p.Leu208=) c.*420G>C (n.*420G>C) c.342G>C (p.Leu114=) c.*544G>C (n.*544G>C) c.582G>C (p.Leu194=) c.*409G>C (n.*409G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122448G= | CA1779747446 | POMK | c.624G= (p.Leu208=) c.*420G= (n.*420G=) c.342G= (p.Leu114=) c.*544G= (n.*544G=) c.582G= (p.Leu194=) c.*409G= (n.*409G=) | |
| 8 | g.43122448G>T | CA460787242 | POMK | c.624G>T (p.Leu208=) c.*420G>T (n.*420G>T) c.342G>T (p.Leu114=) c.*544G>T (n.*544G>T) c.582G>T (p.Leu194=) c.*409G>T (n.*409G>T) | |
| 8 | g.43122449C>A | CA371122311 | POMK | c.625C>A (p.Pro209Thr) c.*421C>A (n.*421C>A) c.343C>A (p.Pro115Thr) c.*545C>A (n.*545C>A) c.583C>A (p.Pro195Thr) c.*410C>A (n.*410C>A) | |
| 8 | g.43122449C= | CA1779747451 | POMK | c.625C= (p.Pro209=) c.*421C= (n.*421C=) c.343C= (p.Pro115=) c.*545C= (n.*545C=) c.583C= (p.Pro195=) c.*410C= (n.*410C=) | |
| 8 | g.43122449C>G | CA371122312 | POMK | c.625C>G (p.Pro209Ala) c.*421C>G (n.*421C>G) c.343C>G (p.Pro115Ala) c.*545C>G (n.*545C>G) c.583C>G (p.Pro195Ala) c.*410C>G (n.*410C>G) | |
| 8 | g.43122449C>T | CA371122313 | POMK | c.625C>T (p.Pro209Ser) c.*421C>T (n.*421C>T) c.343C>T (p.Pro115Ser) c.*545C>T (n.*545C>T) c.583C>T (p.Pro195Ser) c.*410C>T (n.*410C>T) | dbSNP gnomAD v2 |
| 8 | g.43122450C>A | CA371122315 | POMK | c.626C>A (p.Pro209Gln) c.*422C>A (n.*422C>A) c.344C>A (p.Pro115Gln) c.*546C>A (n.*546C>A) c.584C>A (p.Pro195Gln) c.*411C>A (n.*411C>A) | |
| 8 | g.43122450C= | CA1779747453 | POMK | c.626C= (p.Pro209=) c.*422C= (n.*422C=) c.344C= (p.Pro115=) c.*546C= (n.*546C=) c.584C= (p.Pro195=) c.*411C= (n.*411C=) | |
| 8 | g.43122450C>G | CA371122314 | POMK | c.626C>G (p.Pro209Arg) c.*422C>G (n.*422C>G) c.344C>G (p.Pro115Arg) c.*546C>G (n.*546C>G) c.584C>G (p.Pro195Arg) c.*411C>G (n.*411C>G) | |
| 8 | g.43122450C>T | CA4736326 | POMK | c.626C>T (p.Pro209Leu) c.*422C>T (n.*422C>T) c.344C>T (p.Pro115Leu) c.*546C>T (n.*546C>T) c.584C>T (p.Pro195Leu) c.*411C>T (n.*411C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122451G>A | CA4736327 | POMK | c.627G>A (p.Pro209=) c.*423G>A (n.*423G>A) c.345G>A (p.Pro115=) c.*547G>A (n.*547G>A) c.585G>A (p.Pro195=) c.*412G>A (n.*412G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 8 | g.43122451G>C | CA460787243 | POMK | c.627G>C (p.Pro209=) c.*423G>C (n.*423G>C) c.345G>C (p.Pro115=) c.*547G>C (n.*547G>C) c.585G>C (p.Pro195=) c.*412G>C (n.*412G>C) | |
| 8 | g.43122451G= | CA1779747457 | POMK | c.627G= (p.Pro209=) c.*423G= (n.*423G=) c.345G= (p.Pro115=) c.*547G= (n.*547G=) c.585G= (p.Pro195=) c.*412G= (n.*412G=) | |
| 8 | g.43122451G>T | CA460787244 | POMK | c.627G>T (p.Pro209=) c.*423G>T (n.*423G>T) c.345G>T (p.Pro115=) c.*547G>T (n.*547G>T) c.585G>T (p.Pro195=) c.*412G>T (n.*412G>T) | |
| 8 | g.43122452A>C | CA371122316 | POMK | c.628A>C (p.Lys210Gln) c.*424A>C (n.*424A>C) c.346A>C (p.Lys116Gln) c.*548A>C (n.*548A>C) c.586A>C (p.Lys196Gln) c.*413A>C (n.*413A>C) | |
| 8 | g.43122452A>G | CA371122317 | POMK | c.628A>G (p.Lys210Glu) c.*424A>G (n.*424A>G) c.346A>G (p.Lys116Glu) c.*548A>G (n.*548A>G) c.586A>G (p.Lys196Glu) c.*413A>G (n.*413A>G) | gnomAD v4 |
| 8 | g.43122452A>T | CA371122318 | POMK | c.628A>T (p.Lys210Ter) c.*424A>T (n.*424A>T) c.346A>T (p.Lys116Ter) c.*548A>T (n.*548A>T) c.586A>T (p.Lys196Ter) c.*413A>T (n.*413A>T) | |
| 8 | g.43122453A>C | CA371122319 | POMK | c.629A>C (p.Lys210Thr) c.*425A>C (n.*425A>C) c.347A>C (p.Lys116Thr) c.*549A>C (n.*549A>C) c.587A>C (p.Lys196Thr) c.*414A>C (n.*414A>C) | |
| 8 | g.43122453A>G | CA371122320 | POMK | c.629A>G (p.Lys210Arg) c.*425A>G (n.*425A>G) c.347A>G (p.Lys116Arg) c.*549A>G (n.*549A>G) c.587A>G (p.Lys196Arg) c.*414A>G (n.*414A>G) | |
| 8 | g.43122453A>T | CA371122321 | POMK | c.629A>T (p.Lys210Met) c.*425A>T (n.*425A>T) c.347A>T (p.Lys116Met) c.*549A>T (n.*549A>T) c.587A>T (p.Lys196Met) c.*414A>T (n.*414A>T) | |
| 8 | g.43122454G>A | CA460787245 | POMK | c.630G>A (p.Lys210=) c.*426G>A (n.*426G>A) c.348G>A (p.Lys116=) c.*550G>A (n.*550G>A) c.588G>A (p.Lys196=) c.*415G>A (n.*415G>A) | |
| 8 | g.43122454G>C | CA371122322 | POMK | c.630G>C (p.Lys210Asn) c.*426G>C (n.*426G>C) c.348G>C (p.Lys116Asn) c.*550G>C (n.*550G>C) c.588G>C (p.Lys196Asn) c.*415G>C (n.*415G>C) | |
| 8 | g.43122454G>T | CA371122323 | POMK | c.630G>T (p.Lys210Asn) c.*426G>T (n.*426G>T) c.348G>T (p.Lys116Asn) c.*550G>T (n.*550G>T) c.588G>T (p.Lys196Asn) c.*415G>T (n.*415G>T) | COSMIC COSMIC |
| 8 | g.43122455A>C | CA371122324 | POMK | c.631A>C (p.Thr211Pro) c.*427A>C (n.*427A>C) c.349A>C (p.Thr117Pro) c.*551A>C (n.*551A>C) c.589A>C (p.Thr197Pro) c.*416A>C (n.*416A>C) | |
| 8 | g.43122455A>G | CA371122325 | POMK | c.631A>G (p.Thr211Ala) c.*427A>G (n.*427A>G) c.349A>G (p.Thr117Ala) c.*551A>G (n.*551A>G) c.589A>G (p.Thr197Ala) c.*416A>G (n.*416A>G) | |
| 8 | g.43122455A>T | CA371122326 | POMK | c.631A>T (p.Thr211Ser) c.*427A>T (n.*427A>T) c.349A>T (p.Thr117Ser) c.*551A>T (n.*551A>T) c.589A>T (p.Thr197Ser) c.*416A>T (n.*416A>T) | |
| 8 | g.43122456C>A | CA371122327 | POMK | c.632C>A (p.Thr211Lys) c.*428C>A (n.*428C>A) c.350C>A (p.Thr117Lys) c.*552C>A (n.*552C>A) c.590C>A (p.Thr197Lys) c.*417C>A (n.*417C>A) | |
| 8 | g.43122456C>G | CA371122329 | POMK | c.632C>G (p.Thr211Arg) c.*428C>G (n.*428C>G) c.350C>G (p.Thr117Arg) c.*552C>G (n.*552C>G) c.590C>G (p.Thr197Arg) c.*417C>G (n.*417C>G) | |
| 8 | g.43122456C>T | CA371122328 | POMK | c.632C>T (p.Thr211Ile) c.*428C>T (n.*428C>T) c.350C>T (p.Thr117Ile) c.*552C>T (n.*552C>T) c.590C>T (p.Thr197Ile) c.*417C>T (n.*417C>T) | gnomAD v4 |
| 8 | g.43122457A= | CA1779747460 | POMK | c.633A= (p.Thr211=) c.*429A= (n.*429A=) c.351A= (p.Thr117=) c.*553A= (n.*553A=) c.591A= (p.Thr197=) c.*418A= (n.*418A=) | |
| 8 | g.43122457A>C | CA176080176 | POMK | c.633A>C (p.Thr211=) c.*429A>C (n.*429A>C) c.351A>C (p.Thr117=) c.*553A>C (n.*553A>C) c.591A>C (p.Thr197=) c.*418A>C (n.*418A>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.43122457A>G | CA460787246 | POMK | c.633A>G (p.Thr211=) c.*429A>G (n.*429A>G) c.351A>G (p.Thr117=) c.*553A>G (n.*553A>G) c.591A>G (p.Thr197=) c.*418A>G (n.*418A>G) | gnomAD v4 |
| 8 | g.43122457A>T | CA460787247 | POMK | c.633A>T (p.Thr211=) c.*429A>T (n.*429A>T) c.351A>T (p.Thr117=) c.*553A>T (n.*553A>T) c.591A>T (p.Thr197=) c.*418A>T (n.*418A>T) | |
| 8 | g.43122458C>A | CA371122330 | POMK | c.634C>A (p.Leu212Met) c.*430C>A (n.*430C>A) c.352C>A (p.Leu118Met) c.*554C>A (n.*554C>A) c.592C>A (p.Leu198Met) c.*419C>A (n.*419C>A) | |
| 8 | g.43122458C= | CA1779747468 | POMK | c.634C= (p.Leu212=) c.*430C= (n.*430C=) c.352C= (p.Leu118=) c.*554C= (n.*554C=) c.592C= (p.Leu198=) c.*419C= (n.*419C=) | |
| 8 | g.43122458C>G | CA371122331 | POMK | c.634C>G (p.Leu212Val) c.*430C>G (n.*430C>G) c.352C>G (p.Leu118Val) c.*554C>G (n.*554C>G) c.592C>G (p.Leu198Val) c.*419C>G (n.*419C>G) | ClinVar dbSNP gnomAD v4 |
| 8 | g.43122458C>T | CA4736328 | POMK | c.634C>T (p.Leu212=) c.*430C>T (n.*430C>T) c.352C>T (p.Leu118=) c.*554C>T (n.*554C>T) c.592C>T (p.Leu198=) c.*419C>T (n.*419C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122459T>A | CA371122332 | POMK | c.635T>A (p.Leu212Gln) c.*431T>A (n.*431T>A) c.353T>A (p.Leu118Gln) c.*555T>A (n.*555T>A) c.593T>A (p.Leu198Gln) c.*420T>A (n.*420T>A) | |
| 8 | g.43122459T>C | CA371122333 | POMK | c.635T>C (p.Leu212Pro) c.*431T>C (n.*431T>C) c.353T>C (p.Leu118Pro) c.*555T>C (n.*555T>C) c.593T>C (p.Leu198Pro) c.*420T>C (n.*420T>C) | gnomAD v4 |
| 8 | g.43122459T>G | CA371122334 | POMK | c.635T>G (p.Leu212Arg) c.*431T>G (n.*431T>G) c.353T>G (p.Leu118Arg) c.*555T>G (n.*555T>G) c.593T>G (p.Leu198Arg) c.*420T>G (n.*420T>G) | |
| 8 | g.43122460G>A | CA460787248 | POMK | c.636G>A (p.Leu212=) c.*432G>A (n.*432G>A) c.354G>A (p.Leu118=) c.*556G>A (n.*556G>A) c.594G>A (p.Leu198=) c.*421G>A (n.*421G>A) | gnomAD v4 |
| 8 | g.43122460G>C | CA460787250 | POMK | c.636G>C (p.Leu212=) c.*432G>C (n.*432G>C) c.354G>C (p.Leu118=) c.*556G>C (n.*556G>C) c.594G>C (p.Leu198=) c.*421G>C (n.*421G>C) | |
| 8 | g.43122460G>T | CA460787249 | POMK | c.636G>T (p.Leu212=) c.*432G>T (n.*432G>T) c.354G>T (p.Leu118=) c.*556G>T (n.*556G>T) c.594G>T (p.Leu198=) c.*421G>T (n.*421G>T) | |
| 8 | g.43122461T>A | CA371122335 | POMK | c.637T>A (p.Ser213Thr) c.*433T>A (n.*433T>A) c.355T>A (p.Ser119Thr) c.*557T>A (n.*557T>A) c.595T>A (p.Ser199Thr) c.*422T>A (n.*422T>A) | |
| 8 | g.43122461T>C | CA371122336 | POMK | c.637T>C (p.Ser213Pro) c.*433T>C (n.*433T>C) c.355T>C (p.Ser119Pro) c.*557T>C (n.*557T>C) c.595T>C (p.Ser199Pro) c.*422T>C (n.*422T>C) | COSMIC COSMIC |
| 8 | g.43122461T>G | CA371122337 | POMK | c.637T>G (p.Ser213Ala) c.*433T>G (n.*433T>G) c.355T>G (p.Ser119Ala) c.*557T>G (n.*557T>G) c.595T>G (p.Ser199Ala) c.*422T>G (n.*422T>G) | |
| 8 | g.43122462C>A | CA371122338 | POMK | c.638C>A (p.Ser213Tyr) c.*434C>A (n.*434C>A) c.356C>A (p.Ser119Tyr) c.*558C>A (n.*558C>A) c.596C>A (p.Ser199Tyr) c.*423C>A (n.*423C>A) | |
| 8 | g.43122462C= | CA1779747471 | POMK | c.638C= (p.Ser213=) c.*434C= (n.*434C=) c.356C= (p.Ser119=) c.*558C= (n.*558C=) c.596C= (p.Ser199=) c.*423C= (n.*423C=) | |
| 8 | g.43122462C>G | CA371122339 | POMK | c.638C>G (p.Ser213Cys) c.*434C>G (n.*434C>G) c.356C>G (p.Ser119Cys) c.*558C>G (n.*558C>G) c.596C>G (p.Ser199Cys) c.*423C>G (n.*423C>G) | |
| 8 | g.43122462C>T | CA4736329 | POMK | c.638C>T (p.Ser213Phe) c.*434C>T (n.*434C>T) c.356C>T (p.Ser119Phe) c.*558C>T (n.*558C>T) c.596C>T (p.Ser199Phe) c.*423C>T (n.*423C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122463C>A | CA460787253 | POMK | c.639C>A (p.Ser213=) c.*435C>A (n.*435C>A) c.357C>A (p.Ser119=) c.*559C>A (n.*559C>A) c.597C>A (p.Ser199=) c.*424C>A (n.*424C>A) | |
| 8 | g.43122463C= | CA1779747474 | POMK | c.639C= (p.Ser213=) c.*435C= (n.*435C=) c.357C= (p.Ser119=) c.*559C= (n.*559C=) c.597C= (p.Ser199=) c.*424C= (n.*424C=) | |
| 8 | g.43122463C>G | CA460787252 | POMK | c.639C>G (p.Ser213=) c.*435C>G (n.*435C>G) c.357C>G (p.Ser119=) c.*559C>G (n.*559C>G) c.597C>G (p.Ser199=) c.*424C>G (n.*424C>G) | gnomAD v4 |
| 8 | g.43122463C>T | CA460787251 | POMK | c.639C>T (p.Ser213=) c.*435C>T (n.*435C>T) c.357C>T (p.Ser119=) c.*559C>T (n.*559C>T) c.597C>T (p.Ser199=) c.*424C>T (n.*424C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.43122463_43122466del | CA2687148390 | POMK | c.639_642del (p.Gln214IlefsTer3) c.*435_*438del (n.*435_*438del) c.357_360del (p.Gln120IlefsTer3) c.*559_*562del (n.*559_*562del) c.597_600del (p.Gln200IlefsTer3) c.*424_*427del (n.*424_*427del) | gnomAD v4 |
| 8 | g.43122464C>A | CA371122342 | POMK | c.640C>A (p.Gln214Lys) c.*436C>A (n.*436C>A) c.358C>A (p.Gln120Lys) c.*560C>A (n.*560C>A) c.598C>A (p.Gln200Lys) c.*425C>A (n.*425C>A) | |
| 8 | g.43122464C>G | CA371122340 | POMK | c.640C>G (p.Gln214Glu) c.*436C>G (n.*436C>G) c.358C>G (p.Gln120Glu) c.*560C>G (n.*560C>G) c.598C>G (p.Gln200Glu) c.*425C>G (n.*425C>G) | |
| 8 | g.43122464C>T | CA371122341 | POMK | c.640C>T (p.Gln214Ter) c.*436C>T (n.*436C>T) c.358C>T (p.Gln120Ter) c.*560C>T (n.*560C>T) c.598C>T (p.Gln200Ter) c.*425C>T (n.*425C>T) | gnomAD v4 |
| 8 | g.43122464_43122467dup | CA581929128 | POMK | c.640_643dup (p.Tyr215SerfsTer14) c.*436_*439dup (n.*436_*439dup) c.358_361dup (p.Tyr121SerfsTer14) c.*560_*563dup (n.*560_*563dup) c.598_601dup (p.Tyr201SerfsTer14) c.*425_*428dup (n.*425_*428dup) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.43122465A= | CA1779747478 | POMK | c.641A= (p.Gln214=) c.*437A= (n.*437A=) c.359A= (p.Gln120=) c.*561A= (n.*561A=) c.599A= (p.Gln200=) c.*426A= (n.*426A=) | |
| 8 | g.43122465A>C | CA371122343 | POMK | c.641A>C (p.Gln214Pro) c.*437A>C (n.*437A>C) c.359A>C (p.Gln120Pro) c.*561A>C (n.*561A>C) c.599A>C (p.Gln200Pro) c.*426A>C (n.*426A>C) | gnomAD v4 |
| 8 | g.43122465A>G | CA371122344 | POMK | c.641A>G (p.Gln214Arg) c.*437A>G (n.*437A>G) c.359A>G (p.Gln120Arg) c.*561A>G (n.*561A>G) c.599A>G (p.Gln200Arg) c.*426A>G (n.*426A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122465A>T | CA371122345 | POMK | c.641A>T (p.Gln214Leu) c.*437A>T (n.*437A>T) c.359A>T (p.Gln120Leu) c.*561A>T (n.*561A>T) c.599A>T (p.Gln200Leu) c.*426A>T (n.*426A>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.43122466G>A | CA4736330 | POMK | c.642G>A (p.Gln214=) c.*438G>A (n.*438G>A) c.360G>A (p.Gln120=) c.*562G>A (n.*562G>A) c.600G>A (p.Gln200=) c.*427G>A (n.*427G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122466G>C | CA371122346 | POMK | c.642G>C (p.Gln214His) c.*438G>C (n.*438G>C) c.360G>C (p.Gln120His) c.*562G>C (n.*562G>C) c.600G>C (p.Gln200His) c.*427G>C (n.*427G>C) | |
| 8 | g.43122466G= | CA1779747484 | POMK | c.642G= (p.Gln214=) c.*438G= (n.*438G=) c.360G= (p.Gln120=) c.*562G= (n.*562G=) c.600G= (p.Gln200=) c.*427G= (n.*427G=) | |
| 8 | g.43122466G>T | CA176080190 | POMK | c.642G>T (p.Gln214His) c.*438G>T (n.*438G>T) c.360G>T (p.Gln120His) c.*562G>T (n.*562G>T) c.600G>T (p.Gln200His) c.*427G>T (n.*427G>T) | dbSNP |
| 8 | g.43122467T>A | CA371122347 | POMK | c.643T>A (p.Tyr215Asn) c.*439T>A (n.*439T>A) c.361T>A (p.Tyr121Asn) c.*563T>A (n.*563T>A) c.601T>A (p.Tyr201Asn) c.*428T>A (n.*428T>A) | |
| 8 | g.43122467T>C | CA371122348 | POMK | c.643T>C (p.Tyr215His) c.*439T>C (n.*439T>C) c.361T>C (p.Tyr121His) c.*563T>C (n.*563T>C) c.601T>C (p.Tyr201His) c.*428T>C (n.*428T>C) | COSMIC COSMIC |
| 8 | g.43122467T>G | CA371122349 | POMK | c.643T>G (p.Tyr215Asp) c.*439T>G (n.*439T>G) c.361T>G (p.Tyr121Asp) c.*563T>G (n.*563T>G) c.601T>G (p.Tyr201Asp) c.*428T>G (n.*428T>G) | |
| 8 | g.43122468del | CA2687148405 | POMK | c.644del (p.Tyr215PhefsTer3) c.*440del (n.*440del) c.362del (p.Tyr121PhefsTer3) c.*564del (n.*564del) c.602del (p.Tyr201PhefsTer3) c.*429del (n.*429del) | gnomAD v4 |
| 8 | g.43122468A= | CA1779747488 | POMK | c.644A= (p.Tyr215=) c.*440A= (n.*440A=) c.362A= (p.Tyr121=) c.*564A= (n.*564A=) c.602A= (p.Tyr201=) c.*429A= (n.*429A=) | |
| 8 | g.43122468A>C | CA371122350 | POMK | c.644A>C (p.Tyr215Ser) c.*440A>C (n.*440A>C) c.362A>C (p.Tyr121Ser) c.*564A>C (n.*564A>C) c.602A>C (p.Tyr201Ser) c.*429A>C (n.*429A>C) | |
| 8 | g.43122468A>G | CA371122351 | POMK | c.644A>G (p.Tyr215Cys) c.*440A>G (n.*440A>G) c.362A>G (p.Tyr121Cys) c.*564A>G (n.*564A>G) c.602A>G (p.Tyr201Cys) c.*429A>G (n.*429A>G) | |
| 8 | g.43122468A>T | CA371122352 | POMK | c.644A>T (p.Tyr215Phe) c.*440A>T (n.*440A>T) c.362A>T (p.Tyr121Phe) c.*564A>T (n.*564A>T) c.602A>T (p.Tyr201Phe) c.*429A>T (n.*429A>T) | dbSNP |
| 8 | g.43122469T>A | CA371122353 | POMK | c.645T>A (p.Tyr215Ter) c.*441T>A (n.*441T>A) c.363T>A (p.Tyr121Ter) c.*565T>A (n.*565T>A) c.603T>A (p.Tyr201Ter) c.*430T>A (n.*430T>A) | |
| 8 | g.43122469T>C | CA460787254 | POMK | c.645T>C (p.Tyr215=) c.*441T>C (n.*441T>C) c.363T>C (p.Tyr121=) c.*565T>C (n.*565T>C) c.603T>C (p.Tyr201=) c.*430T>C (n.*430T>C) | dbSNP |
| 8 | g.43122469T>G | CA371122354 | POMK | c.645T>G (p.Tyr215Ter) c.*441T>G (n.*441T>G) c.363T>G (p.Tyr121Ter) c.*565T>G (n.*565T>G) c.603T>G (p.Tyr201Ter) c.*430T>G (n.*430T>G) | ClinVar |
| 8 | g.43122469T= | CA1779747490 | POMK | c.645T= (p.Tyr215=) c.*441T= (n.*441T=) c.363T= (p.Tyr121=) c.*565T= (n.*565T=) c.603T= (p.Tyr201=) c.*430T= (n.*430T=) | |
| 8 | g.43122470C>A | CA371122355 | POMK | c.646C>A (p.Leu216Met) c.*442C>A (n.*442C>A) c.364C>A (p.Leu122Met) c.*566C>A (n.*566C>A) c.604C>A (p.Leu202Met) c.*431C>A (n.*431C>A) | |
| 8 | g.43122470C>G | CA371122356 | POMK | c.646C>G (p.Leu216Val) c.*442C>G (n.*442C>G) c.364C>G (p.Leu122Val) c.*566C>G (n.*566C>G) c.604C>G (p.Leu202Val) c.*431C>G (n.*431C>G) | |
| 8 | g.43122470C>T | CA460787255 | POMK | c.646C>T (p.Leu216=) c.*442C>T (n.*442C>T) c.364C>T (p.Leu122=) c.*566C>T (n.*566C>T) c.604C>T (p.Leu202=) c.*431C>T (n.*431C>T) | |
| 8 | g.43122471T>A | CA371122357 | POMK | c.647T>A (p.Leu216Gln) c.*443T>A (n.*443T>A) c.365T>A (p.Leu122Gln) c.*567T>A (n.*567T>A) c.605T>A (p.Leu202Gln) c.*432T>A (n.*432T>A) | |
| 8 | g.43122471T>C | CA371122358 | POMK | c.647T>C (p.Leu216Pro) c.*443T>C (n.*443T>C) c.365T>C (p.Leu122Pro) c.*567T>C (n.*567T>C) c.605T>C (p.Leu202Pro) c.*432T>C (n.*432T>C) | |
| 8 | g.43122471T>G | CA371122359 | POMK | c.647T>G (p.Leu216Arg) c.*443T>G (n.*443T>G) c.365T>G (p.Leu122Arg) c.*567T>G (n.*567T>G) c.605T>G (p.Leu202Arg) c.*432T>G (n.*432T>G) | gnomAD v4 |
| 8 | g.43122472G>A | CA460787256 | POMK | c.648G>A (p.Leu216=) c.*444G>A (n.*444G>A) c.366G>A (p.Leu122=) c.*568G>A (n.*568G>A) c.606G>A (p.Leu202=) c.*433G>A (n.*433G>A) | dbSNP |
| 8 | g.43122472G>C | CA460787257 | POMK | c.648G>C (p.Leu216=) c.*444G>C (n.*444G>C) c.366G>C (p.Leu122=) c.*568G>C (n.*568G>C) c.606G>C (p.Leu202=) c.*433G>C (n.*433G>C) | |
| 8 | g.43122472G= | CA1779747492 | POMK | c.648G= (p.Leu216=) c.*444G= (n.*444G=) c.366G= (p.Leu122=) c.*568G= (n.*568G=) c.606G= (p.Leu202=) c.*433G= (n.*433G=) | |
| 8 | g.43122472G>T | CA460787258 | POMK | c.648G>T (p.Leu216=) c.*444G>T (n.*444G>T) c.366G>T (p.Leu122=) c.*568G>T (n.*568G>T) c.606G>T (p.Leu202=) c.*433G>T (n.*433G>T) | |
| 8 | g.43122473C>A | CA4736331 | POMK | c.649C>A (p.Leu217Ile) c.*445C>A (n.*445C>A) c.367C>A (p.Leu123Ile) c.*569C>A (n.*569C>A) c.607C>A (p.Leu203Ile) c.*434C>A (n.*434C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.43122473C= | CA1779747496 | POMK | c.649C= (p.Leu217=) c.*445C= (n.*445C=) c.367C= (p.Leu123=) c.*569C= (n.*569C=) c.607C= (p.Leu203=) c.*434C= (n.*434C=) | |
| 8 | g.43122473C>G | CA371122360 | POMK | c.649C>G (p.Leu217Val) c.*445C>G (n.*445C>G) c.367C>G (p.Leu123Val) c.*569C>G (n.*569C>G) c.607C>G (p.Leu203Val) c.*434C>G (n.*434C>G) | gnomAD v4 |
| 8 | g.43122473C>T | CA460787259 | POMK | c.649C>T (p.Leu217=) c.*445C>T (n.*445C>T) c.367C>T (p.Leu123=) c.*569C>T (n.*569C>T) c.607C>T (p.Leu203=) c.*434C>T (n.*434C>T) | gnomAD v4 |
| 8 | g.43122474del | CA2687148409 | POMK | c.650del (p.Leu217GlnfsTer18) c.*446del (n.*446del) c.368del (p.Leu123GlnfsTer18) c.*570del (n.*570del) c.608del (p.Leu203GlnfsTer18) c.*435del (n.*435del) | gnomAD v4 |
| 8 | g.43122474T>A | CA371122363 | POMK | c.650T>A (p.Leu217Gln) c.*446T>A (n.*446T>A) c.368T>A (p.Leu123Gln) c.*570T>A (n.*570T>A) c.608T>A (p.Leu203Gln) c.*435T>A (n.*435T>A) | |
| 8 | g.43122474T>C | CA371122362 | POMK | c.650T>C (p.Leu217Pro) c.*446T>C (n.*446T>C) c.368T>C (p.Leu123Pro) c.*570T>C (n.*570T>C) c.608T>C (p.Leu203Pro) c.*435T>C (n.*435T>C) | |
| 8 | g.43122474T>G | CA371122361 | POMK | c.650T>G (p.Leu217Arg) c.*446T>G (n.*446T>G) c.368T>G (p.Leu123Arg) c.*570T>G (n.*570T>G) c.608T>G (p.Leu203Arg) c.*435T>G (n.*435T>G) | |
| 8 | g.43122475A>C | CA460787260 | POMK | c.651A>C (p.Leu217=) c.*447A>C (n.*447A>C) c.369A>C (p.Leu123=) c.*571A>C (n.*571A>C) c.609A>C (p.Leu203=) c.*436A>C (n.*436A>C) | |
| 8 | g.43122475A>G | CA460787261 | POMK | c.651A>G (p.Leu217=) c.*447A>G (n.*447A>G) c.369A>G (p.Leu123=) c.*571A>G (n.*571A>G) c.609A>G (p.Leu203=) c.*436A>G (n.*436A>G) | |
| 8 | g.43122475A>T | CA460787262 | POMK | c.651A>T (p.Leu217=) c.*447A>T (n.*447A>T) c.369A>T (p.Leu123=) c.*571A>T (n.*571A>T) c.609A>T (p.Leu203=) c.*436A>T (n.*436A>T) | |
| 8 | g.43122476A>C | CA371122364 | POMK | c.652A>C (p.Thr218Pro) c.*448A>C (n.*448A>C) c.370A>C (p.Thr124Pro) c.*572A>C (n.*572A>C) c.610A>C (p.Thr204Pro) c.*437A>C (n.*437A>C) | |
| 8 | g.43122476A>G | CA371122365 | POMK | c.652A>G (p.Thr218Ala) c.*448A>G (n.*448A>G) c.370A>G (p.Thr124Ala) c.*572A>G (n.*572A>G) c.610A>G (p.Thr204Ala) c.*437A>G (n.*437A>G) | |
| 8 | g.43122476A>T | CA371122366 | POMK | c.652A>T (p.Thr218Ser) c.*448A>T (n.*448A>T) c.370A>T (p.Thr124Ser) c.*572A>T (n.*572A>T) c.610A>T (p.Thr204Ser) c.*437A>T (n.*437A>T) | |
| 8 | g.43122477C>A | CA4736332 | POMK | c.653C>A (p.Thr218Lys) c.*449C>A (n.*449C>A) c.371C>A (p.Thr124Lys) c.*573C>A (n.*573C>A) c.611C>A (p.Thr204Lys) c.*438C>A (n.*438C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.43122477C= | CA1779747500 | POMK | c.653C= (p.Thr218=) c.*449C= (n.*449C=) c.371C= (p.Thr124=) c.*573C= (n.*573C=) c.611C= (p.Thr204=) c.*438C= (n.*438C=) | |
| 8 | g.43122477C>G | CA371122367 | POMK | c.653C>G (p.Thr218Arg) c.*449C>G (n.*449C>G) c.371C>G (p.Thr124Arg) c.*573C>G (n.*573C>G) c.611C>G (p.Thr204Arg) c.*438C>G (n.*438C>G) | |
| 8 | g.43122477C>T | CA4736333 | POMK | c.653C>T (p.Thr218Ile) c.*449C>T (n.*449C>T) c.371C>T (p.Thr124Ile) c.*573C>T (n.*573C>T) c.611C>T (p.Thr204Ile) c.*438C>T (n.*438C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122478A>C | CA460787263 | POMK | c.654A>C (p.Thr218=) c.*450A>C (n.*450A>C) c.372A>C (p.Thr124=) c.*574A>C (n.*574A>C) c.612A>C (p.Thr204=) c.*439A>C (n.*439A>C) | |
| 8 | g.43122478A>G | CA460787264 | POMK | c.654A>G (p.Thr218=) c.*450A>G (n.*450A>G) c.372A>G (p.Thr124=) c.*574A>G (n.*574A>G) c.612A>G (p.Thr204=) c.*439A>G (n.*439A>G) | gnomAD v4 |
| 8 | g.43122478A>T | CA460787265 | POMK | c.654A>T (p.Thr218=) c.*450A>T (n.*450A>T) c.372A>T (p.Thr124=) c.*574A>T (n.*574A>T) c.612A>T (p.Thr204=) c.*439A>T (n.*439A>T) | |
| 8 | g.43122479A>C | CA371122368 | POMK | c.655A>C (p.Ser219Arg) c.*451A>C (n.*451A>C) c.373A>C (p.Ser125Arg) c.*575A>C (n.*575A>C) c.613A>C (p.Ser205Arg) c.*440A>C (n.*440A>C) | |
| 8 | g.43122479A>G | CA371122370 | POMK | c.655A>G (p.Ser219Gly) c.*451A>G (n.*451A>G) c.373A>G (p.Ser125Gly) c.*575A>G (n.*575A>G) c.613A>G (p.Ser205Gly) c.*440A>G (n.*440A>G) | |
| 8 | g.43122479A>T | CA371122369 | POMK | c.655A>T (p.Ser219Cys) c.*451A>T (n.*451A>T) c.373A>T (p.Ser125Cys) c.*575A>T (n.*575A>T) c.613A>T (p.Ser205Cys) c.*440A>T (n.*440A>T) | |
| 8 | g.43122480G>A | CA371122371 | POMK | c.656G>A (p.Ser219Asn) c.*452G>A (n.*452G>A) c.374G>A (p.Ser125Asn) c.*576G>A (n.*576G>A) c.614G>A (p.Ser205Asn) c.*441G>A (n.*441G>A) | |
| 8 | g.43122480G>C | CA371122372 | POMK | c.656G>C (p.Ser219Thr) c.*452G>C (n.*452G>C) c.374G>C (p.Ser125Thr) c.*576G>C (n.*576G>C) c.614G>C (p.Ser205Thr) c.*441G>C (n.*441G>C) | |
| 8 | g.43122480G>T | CA371122373 | POMK | c.656G>T (p.Ser219Ile) c.*452G>T (n.*452G>T) c.374G>T (p.Ser125Ile) c.*576G>T (n.*576G>T) c.614G>T (p.Ser205Ile) c.*441G>T (n.*441G>T) | |
| 8 | g.43122481C>A | CA371122374 | POMK | c.657C>A (p.Ser219Arg) c.*453C>A (n.*453C>A) c.375C>A (p.Ser125Arg) c.*577C>A (n.*577C>A) c.615C>A (p.Ser205Arg) c.*442C>A (n.*442C>A) | ClinVar dbSNP |
| 8 | g.43122481C= | CA1779747503 | POMK | c.657C= (p.Ser219=) c.*453C= (n.*453C=) c.375C= (p.Ser125=) c.*577C= (n.*577C=) c.615C= (p.Ser205=) c.*442C= (n.*442C=) | |
| 8 | g.43122481C>G | CA371122375 | POMK | c.657C>G (p.Ser219Arg) c.*453C>G (n.*453C>G) c.375C>G (p.Ser125Arg) c.*577C>G (n.*577C>G) c.615C>G (p.Ser205Arg) c.*442C>G (n.*442C>G) | |
| 8 | g.43122481C>T | CA460787266 | POMK | c.657C>T (p.Ser219=) c.*453C>T (n.*453C>T) c.375C>T (p.Ser125=) c.*577C>T (n.*577C>T) c.615C>T (p.Ser205=) c.*442C>T (n.*442C>T) | |
| 8 | g.43122482A= | CA1779747507 | POMK | c.658A= (p.Asn220=) c.*454A= (n.*454A=) c.376A= (p.Asn126=) c.*578A= (n.*578A=) c.616A= (p.Asn206=) c.*443A= (n.*443A=) | |
| 8 | g.43122482A>C | CA371122376 | POMK | c.658A>C (p.Asn220His) c.*454A>C (n.*454A>C) c.376A>C (p.Asn126His) c.*578A>C (n.*578A>C) c.616A>C (p.Asn206His) c.*443A>C (n.*443A>C) | |
| 8 | g.43122482A>G | CA371122377 | POMK | c.658A>G (p.Asn220Asp) c.*454A>G (n.*454A>G) c.376A>G (p.Asn126Asp) c.*578A>G (n.*578A>G) c.616A>G (p.Asn206Asp) c.*443A>G (n.*443A>G) | dbSNP |
| 8 | g.43122482A>T | CA371122378 | POMK | c.658A>T (p.Asn220Tyr) c.*454A>T (n.*454A>T) c.376A>T (p.Asn126Tyr) c.*578A>T (n.*578A>T) c.616A>T (p.Asn206Tyr) c.*443A>T (n.*443A>T) | |
| 8 | g.43122483A>C | CA371122379 | POMK | c.659A>C (p.Asn220Thr) c.*455A>C (n.*455A>C) c.377A>C (p.Asn126Thr) c.*579A>C (n.*579A>C) c.617A>C (p.Asn206Thr) c.*444A>C (n.*444A>C) | |
| 8 | g.43122483A>G | CA371122380 | POMK | c.659A>G (p.Asn220Ser) c.*455A>G (n.*455A>G) c.377A>G (p.Asn126Ser) c.*579A>G (n.*579A>G) c.617A>G (p.Asn206Ser) c.*444A>G (n.*444A>G) | |
| 8 | g.43122483A>T | CA371122381 | POMK | c.659A>T (p.Asn220Ile) c.*455A>T (n.*455A>T) c.377A>T (p.Asn126Ile) c.*579A>T (n.*579A>T) c.617A>T (p.Asn206Ile) c.*444A>T (n.*444A>T) | |
| 8 | g.43122484C>A | CA371122383 | POMK | c.660C>A (p.Asn220Lys) c.*456C>A (n.*456C>A) c.378C>A (p.Asn126Lys) c.*580C>A (n.*580C>A) c.618C>A (p.Asn206Lys) c.*445C>A (n.*445C>A) | |
| 8 | g.43122484C= | CA1779747511 | POMK | c.660C= (p.Asn220=) c.*456C= (n.*456C=) c.378C= (p.Asn126=) c.*580C= (n.*580C=) c.618C= (p.Asn206=) c.*445C= (n.*445C=) | |
| 8 | g.43122484C>G | CA371122382 | POMK | c.660C>G (p.Asn220Lys) c.*456C>G (n.*456C>G) c.378C>G (p.Asn126Lys) c.*580C>G (n.*580C>G) c.618C>G (p.Asn206Lys) c.*445C>G (n.*445C>G) | |
| 8 | g.43122484C>T | CA460787267 | POMK | c.660C>T (p.Asn220=) c.*456C>T (n.*456C>T) c.378C>T (p.Asn126=) c.*580C>T (n.*580C>T) c.618C>T (p.Asn206=) c.*445C>T (n.*445C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.43122485T>A | CA371122384 | POMK | c.661T>A (p.Phe221Ile) c.*457T>A (n.*457T>A) c.379T>A (p.Phe127Ile) c.*581T>A (n.*581T>A) c.619T>A (p.Phe207Ile) c.*446T>A (n.*446T>A) | |
| 8 | g.43122485T>C | CA371122385 | POMK | c.661T>C (p.Phe221Leu) c.*457T>C (n.*457T>C) c.379T>C (p.Phe127Leu) c.*581T>C (n.*581T>C) c.619T>C (p.Phe207Leu) c.*446T>C (n.*446T>C) | ClinVar dbSNP |
| 8 | g.43122485T>G | CA371122386 | POMK | c.661T>G (p.Phe221Val) c.*457T>G (n.*457T>G) c.379T>G (p.Phe127Val) c.*581T>G (n.*581T>G) c.619T>G (p.Phe207Val) c.*446T>G (n.*446T>G) | |
| 8 | g.43122485T= | CA1779747516 | POMK | c.661T= (p.Phe221=) c.*457T= (n.*457T=) c.379T= (p.Phe127=) c.*581T= (n.*581T=) c.619T= (p.Phe207=) c.*446T= (n.*446T=) | |
| 8 | g.43122486T>A | CA371122387 | POMK | c.662T>A (p.Phe221Tyr) c.*458T>A (n.*458T>A) c.380T>A (p.Phe127Tyr) c.*582T>A (n.*582T>A) c.620T>A (p.Phe207Tyr) c.*447T>A (n.*447T>A) | |
| 8 | g.43122486T>C | CA176080209 | POMK | c.662T>C (p.Phe221Ser) c.*458T>C (n.*458T>C) c.380T>C (p.Phe127Ser) c.*582T>C (n.*582T>C) c.620T>C (p.Phe207Ser) c.*447T>C (n.*447T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.43122486T>G | CA371122388 | POMK | c.662T>G (p.Phe221Cys) c.*458T>G (n.*458T>G) c.380T>G (p.Phe127Cys) c.*582T>G (n.*582T>G) c.620T>G (p.Phe207Cys) c.*447T>G (n.*447T>G) | |
| 8 | g.43122486T= | CA1779747521 | POMK | c.662T= (p.Phe221=) c.*458T= (n.*458T=) c.380T= (p.Phe127=) c.*582T= (n.*582T=) c.620T= (p.Phe207=) c.*447T= (n.*447T=) | |
| 8 | g.43122487C>A | CA4736334 | POMK | c.663C>A (p.Phe221Leu) c.*459C>A (n.*459C>A) c.381C>A (p.Phe127Leu) c.*583C>A (n.*583C>A) c.621C>A (p.Phe207Leu) c.*448C>A (n.*448C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.43122487C= | CA1779747526 | POMK | c.663C= (p.Phe221=) c.*459C= (n.*459C=) c.381C= (p.Phe127=) c.*583C= (n.*583C=) c.621C= (p.Phe207=) c.*448C= (n.*448C=) | |
| 8 | g.43122487C>G | CA371122389 | POMK | c.663C>G (p.Phe221Leu) c.*459C>G (n.*459C>G) c.381C>G (p.Phe127Leu) c.*583C>G (n.*583C>G) c.621C>G (p.Phe207Leu) c.*448C>G (n.*448C>G) | |
| 8 | g.43122487C>T | CA176080216 | POMK | c.663C>T (p.Phe221=) c.*459C>T (n.*459C>T) c.381C>T (p.Phe127=) c.*583C>T (n.*583C>T) c.621C>T (p.Phe207=) c.*448C>T (n.*448C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.43122488A>C | CA371122390 | POMK | c.664A>C (p.Ser222Arg) c.*460A>C (n.*460A>C) c.382A>C (p.Ser128Arg) c.*584A>C (n.*584A>C) c.622A>C (p.Ser208Arg) c.*449A>C (n.*449A>C) | |
| 8 | g.43122488A>G | CA371122391 | POMK | c.664A>G (p.Ser222Gly) c.*460A>G (n.*460A>G) c.382A>G (p.Ser128Gly) c.*584A>G (n.*584A>G) c.622A>G (p.Ser208Gly) c.*449A>G (n.*449A>G) | gnomAD v4 |
| 8 | g.43122488A>T | CA371122392 | POMK | c.664A>T (p.Ser222Cys) c.*460A>T (n.*460A>T) c.382A>T (p.Ser128Cys) c.*584A>T (n.*584A>T) c.622A>T (p.Ser208Cys) c.*449A>T (n.*449A>T) | |
| 8 | g.43122489G>A | CA371122393 | POMK | c.665G>A (p.Ser222Asn) c.*461G>A (n.*461G>A) c.383G>A (p.Ser128Asn) c.*585G>A (n.*585G>A) c.623G>A (p.Ser208Asn) c.*450G>A (n.*450G>A) | |
| 8 | g.43122489G>C | CA371122394 | POMK | c.665G>C (p.Ser222Thr) c.*461G>C (n.*461G>C) c.383G>C (p.Ser128Thr) c.*585G>C (n.*585G>C) c.623G>C (p.Ser208Thr) c.*450G>C (n.*450G>C) | |
| 8 | g.43122489G>T | CA371122395 | POMK | c.665G>T (p.Ser222Ile) c.*461G>T (n.*461G>T) c.383G>T (p.Ser128Ile) c.*585G>T (n.*585G>T) c.623G>T (p.Ser208Ile) c.*450G>T (n.*450G>T) | |
| 8 | g.43122490C>A | CA371122397 | POMK | c.666C>A (p.Ser222Arg) c.*462C>A (n.*462C>A) c.384C>A (p.Ser128Arg) c.*586C>A (n.*586C>A) c.624C>A (p.Ser208Arg) c.*451C>A (n.*451C>A) | |
| 8 | g.43122490C>G | CA371122396 | POMK | c.666C>G (p.Ser222Arg) c.*462C>G (n.*462C>G) c.384C>G (p.Ser128Arg) c.*586C>G (n.*586C>G) c.624C>G (p.Ser208Arg) c.*451C>G (n.*451C>G) | |
| 8 | g.43122490C>T | CA460787268 | POMK | c.666C>T (p.Ser222=) c.*462C>T (n.*462C>T) c.384C>T (p.Ser128=) c.*586C>T (n.*586C>T) c.624C>T (p.Ser208=) c.*451C>T (n.*451C>T) | |
| 8 | g.43122491A>C | CA371122398 | POMK | c.667A>C (p.Ile223Leu) c.*463A>C (n.*463A>C) c.385A>C (p.Ile129Leu) c.*587A>C (n.*587A>C) c.625A>C (p.Ile209Leu) c.*452A>C (n.*452A>C) | |
| 8 | g.43122491A>G | CA371122399 | POMK | c.667A>G (p.Ile223Val) c.*463A>G (n.*463A>G) c.385A>G (p.Ile129Val) c.*587A>G (n.*587A>G) c.625A>G (p.Ile209Val) c.*452A>G (n.*452A>G) | ClinVar gnomAD v4 |
| 8 | g.43122491A>T | CA371122400 | POMK | c.667A>T (p.Ile223Phe) c.*463A>T (n.*463A>T) c.385A>T (p.Ile129Phe) c.*587A>T (n.*587A>T) c.625A>T (p.Ile209Phe) c.*452A>T (n.*452A>T) | |
| 8 | g.43122492T>A | CA371122401 | POMK | c.668T>A (p.Ile223Asn) c.*464T>A (n.*464T>A) c.386T>A (p.Ile129Asn) c.*588T>A (n.*588T>A) c.626T>A (p.Ile209Asn) c.*453T>A (n.*453T>A) | |
| 8 | g.43122492T>C | CA371122402 | POMK | c.668T>C (p.Ile223Thr) c.*464T>C (n.*464T>C) c.386T>C (p.Ile129Thr) c.*588T>C (n.*588T>C) c.626T>C (p.Ile209Thr) c.*453T>C (n.*453T>C) | |
| 8 | g.43122492T>G | CA371122403 | POMK | c.668T>G (p.Ile223Ser) c.*464T>G (n.*464T>G) c.386T>G (p.Ile129Ser) c.*588T>G (n.*588T>G) c.626T>G (p.Ile209Ser) c.*453T>G (n.*453T>G) |