| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.43122555G>A | CA371122538 | POMK | c.731G>A (p.Cys244Tyr) c.*527G>A (n.*527G>A) c.449G>A (p.Cys150Tyr) c.*651G>A (n.*651G>A) c.689G>A (p.Cys230Tyr) c.*516G>A (n.*516G>A) | |
| 8 | g.43122555G>C | CA371122539 | POMK | c.731G>C (p.Cys244Ser) c.*527G>C (n.*527G>C) c.449G>C (p.Cys150Ser) c.*651G>C (n.*651G>C) c.689G>C (p.Cys230Ser) c.*516G>C (n.*516G>C) | |
| 8 | g.43122555G>T | CA371122540 | POMK | c.731G>T (p.Cys244Phe) c.*527G>T (n.*527G>T) c.449G>T (p.Cys150Phe) c.*651G>T (n.*651G>T) c.689G>T (p.Cys230Phe) c.*516G>T (n.*516G>T) | |
| 8 | g.43122556C>A | CA371122542 | POMK | c.732C>A (p.Cys244Ter) c.*528C>A (n.*528C>A) c.450C>A (p.Cys150Ter) c.*652C>A (n.*652C>A) c.690C>A (p.Cys230Ter) c.*517C>A (n.*517C>A) | |
| 8 | g.43122556C= | CA1779747639 | POMK | c.732C= (p.Cys244=) c.*528C= (n.*528C=) c.450C= (p.Cys150=) c.*652C= (n.*652C=) c.690C= (p.Cys230=) c.*517C= (n.*517C=) | |
| 8 | g.43122556C>G | CA371122541 | POMK | c.732C>G (p.Cys244Trp) c.*528C>G (n.*528C>G) c.450C>G (p.Cys150Trp) c.*652C>G (n.*652C>G) c.690C>G (p.Cys230Trp) c.*517C>G (n.*517C>G) | |
| 8 | g.43122556C>T | CA4736346 | POMK | c.732C>T (p.Cys244=) c.*528C>T (n.*528C>T) c.450C>T (p.Cys150=) c.*652C>T (n.*652C>T) c.690C>T (p.Cys230=) c.*517C>T (n.*517C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.43122557G>A | CA371122543 | POMK | c.733G>A (p.Gly245Ser) c.*529G>A (n.*529G>A) c.451G>A (p.Gly151Ser) c.*653G>A (n.*653G>A) c.691G>A (p.Gly231Ser) c.*518G>A (n.*518G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.43122557G>C | CA371122544 | POMK | c.733G>C (p.Gly245Arg) c.*529G>C (n.*529G>C) c.451G>C (p.Gly151Arg) c.*653G>C (n.*653G>C) c.691G>C (p.Gly231Arg) c.*518G>C (n.*518G>C) | |
| 8 | g.43122557G= | CA1779747642 | POMK | c.733G= (p.Gly245=) c.*529G= (n.*529G=) c.451G= (p.Gly151=) c.*653G= (n.*653G=) c.691G= (p.Gly231=) c.*518G= (n.*518G=) | |
| 8 | g.43122557G>T | CA371122545 | POMK | c.733G>T (p.Gly245Cys) c.*529G>T (n.*529G>T) c.451G>T (p.Gly151Cys) c.*653G>T (n.*653G>T) c.691G>T (p.Gly231Cys) c.*518G>T (n.*518G>T) | |
| 8 | g.43122558G>A | CA371122546 | POMK | c.734G>A (p.Gly245Asp) c.*530G>A (n.*530G>A) c.452G>A (p.Gly151Asp) c.*654G>A (n.*654G>A) c.692G>A (p.Gly231Asp) c.*519G>A (n.*519G>A) | |
| 8 | g.43122558G>C | CA371122547 | POMK | c.734G>C (p.Gly245Ala) c.*530G>C (n.*530G>C) c.452G>C (p.Gly151Ala) c.*654G>C (n.*654G>C) c.692G>C (p.Gly231Ala) c.*519G>C (n.*519G>C) | |
| 8 | g.43122558G= | CA1779747645 | POMK | c.734G= (p.Gly245=) c.*530G= (n.*530G=) c.452G= (p.Gly151=) c.*654G= (n.*654G=) c.692G= (p.Gly231=) c.*519G= (n.*519G=) | |
| 8 | g.43122558G>T | CA4736347 | POMK | c.734G>T (p.Gly245Val) c.*530G>T (n.*530G>T) c.452G>T (p.Gly151Val) c.*654G>T (n.*654G>T) c.692G>T (p.Gly231Val) c.*519G>T (n.*519G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.43122559C>A | CA460787417 | POMK | c.735C>A (p.Gly245=) c.*531C>A (n.*531C>A) c.453C>A (p.Gly151=) c.*655C>A (n.*655C>A) c.693C>A (p.Gly231=) c.*520C>A (n.*520C>A) | |
| 8 | g.43122559C>G | CA460787418 | POMK | c.735C>G (p.Gly245=) c.*531C>G (n.*531C>G) c.453C>G (p.Gly151=) c.*655C>G (n.*655C>G) c.693C>G (p.Gly231=) c.*520C>G (n.*520C>G) | |
| 8 | g.43122559C>T | CA460787419 | POMK | c.735C>T (p.Gly245=) c.*531C>T (n.*531C>T) c.453C>T (p.Gly151=) c.*655C>T (n.*655C>T) c.693C>T (p.Gly231=) c.*520C>T (n.*520C>T) | |
| 8 | g.43122560C>A | CA371122548 | POMK | c.736C>A (p.His246Asn) c.*532C>A (n.*532C>A) c.454C>A (p.His152Asn) c.*656C>A (n.*656C>A) c.694C>A (p.His232Asn) c.*521C>A (n.*521C>A) | |
| 8 | g.43122560C>G | CA371122550 | POMK | c.736C>G (p.His246Asp) c.*532C>G (n.*532C>G) c.454C>G (p.His152Asp) c.*656C>G (n.*656C>G) c.694C>G (p.His232Asp) c.*521C>G (n.*521C>G) | |
| 8 | g.43122560C>T | CA371122549 | POMK | c.736C>T (p.His246Tyr) c.*532C>T (n.*532C>T) c.454C>T (p.His152Tyr) c.*656C>T (n.*656C>T) c.694C>T (p.His232Tyr) c.*521C>T (n.*521C>T) | |
| 8 | g.43122561A= | CA1779747649 | POMK | c.737A= (p.His246=) c.*533A= (n.*533A=) c.455A= (p.His152=) c.*657A= (n.*657A=) c.695A= (p.His232=) c.*522A= (n.*522A=) | |
| 8 | g.43122561A>C | CA371122551 | POMK | c.737A>C (p.His246Pro) c.*533A>C (n.*533A>C) c.455A>C (p.His152Pro) c.*657A>C (n.*657A>C) c.695A>C (p.His232Pro) c.*522A>C (n.*522A>C) | |
| 8 | g.43122561A>G | CA4736348 | POMK | c.737A>G (p.His246Arg) c.*533A>G (n.*533A>G) c.455A>G (p.His152Arg) c.*657A>G (n.*657A>G) c.695A>G (p.His232Arg) c.*522A>G (n.*522A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.43122561A>T | CA371122552 | POMK | c.737A>T (p.His246Leu) c.*533A>T (n.*533A>T) c.455A>T (p.His152Leu) c.*657A>T (n.*657A>T) c.695A>T (p.His232Leu) c.*522A>T (n.*522A>T) | |
| 8 | g.43122562C>A | CA371122553 | POMK | c.738C>A (p.His246Gln) c.*534C>A (n.*534C>A) c.456C>A (p.His152Gln) c.*658C>A (n.*658C>A) c.696C>A (p.His232Gln) c.*523C>A (n.*523C>A) | |
| 8 | g.43122562C>G | CA371122554 | POMK | c.738C>G (p.His246Gln) c.*534C>G (n.*534C>G) c.456C>G (p.His152Gln) c.*658C>G (n.*658C>G) c.696C>G (p.His232Gln) c.*523C>G (n.*523C>G) | |
| 8 | g.43122562C>T | CA460787424 | POMK | c.738C>T (p.His246=) c.*534C>T (n.*534C>T) c.456C>T (p.His152=) c.*658C>T (n.*658C>T) c.696C>T (p.His232=) c.*523C>T (n.*523C>T) | gnomAD v4 |
| 8 | g.43122563A= | CA1779747652 | POMK | c.739A= (p.Arg247=) c.*535A= (n.*535A=) c.457A= (p.Arg153=) c.*659A= (n.*659A=) c.697A= (p.Arg233=) c.*524A= (n.*524A=) | |
| 8 | g.43122563A>C | CA460787425 | POMK | c.739A>C (p.Arg247=) c.*535A>C (n.*535A>C) c.457A>C (p.Arg153=) c.*659A>C (n.*659A>C) c.697A>C (p.Arg233=) c.*524A>C (n.*524A>C) | |
| 8 | g.43122563A>G | CA371122555 | POMK | c.739A>G (p.Arg247Gly) c.*535A>G (n.*535A>G) c.457A>G (p.Arg153Gly) c.*659A>G (n.*659A>G) c.697A>G (p.Arg233Gly) c.*524A>G (n.*524A>G) | ClinVar dbSNP |
| 8 | g.43122563A>T | CA371122556 | POMK | c.739A>T (p.Arg247Trp) c.*535A>T (n.*535A>T) c.457A>T (p.Arg153Trp) c.*659A>T (n.*659A>T) c.697A>T (p.Arg233Trp) c.*524A>T (n.*524A>T) | |
| 8 | g.43122564G>A | CA371122557 | POMK | c.740G>A (p.Arg247Lys) c.*536G>A (n.*536G>A) c.458G>A (p.Arg153Lys) c.*660G>A (n.*660G>A) c.698G>A (p.Arg233Lys) c.*525G>A (n.*525G>A) | |
| 8 | g.43122564G>C | CA371122558 | POMK | c.740G>C (p.Arg247Thr) c.*536G>C (n.*536G>C) c.458G>C (p.Arg153Thr) c.*660G>C (n.*660G>C) c.698G>C (p.Arg233Thr) c.*525G>C (n.*525G>C) | |
| 8 | g.43122564G>T | CA371122559 | POMK | c.740G>T (p.Arg247Met) c.*536G>T (n.*536G>T) c.458G>T (p.Arg153Met) c.*660G>T (n.*660G>T) c.698G>T (p.Arg233Met) c.*525G>T (n.*525G>T) | |
| 8 | g.43122565G>A | CA460787431 | POMK | c.741G>A (p.Arg247=) c.*537G>A (n.*537G>A) c.459G>A (p.Arg153=) c.*661G>A (n.*661G>A) c.699G>A (p.Arg233=) c.*526G>A (n.*526G>A) | |
| 8 | g.43122565G>C | CA371122560 | POMK | c.741G>C (p.Arg247Ser) c.*537G>C (n.*537G>C) c.459G>C (p.Arg153Ser) c.*661G>C (n.*661G>C) c.699G>C (p.Arg233Ser) c.*526G>C (n.*526G>C) | |
| 8 | g.43122565G>T | CA371122561 | POMK | c.741G>T (p.Arg247Ser) c.*537G>T (n.*537G>T) c.459G>T (p.Arg153Ser) c.*661G>T (n.*661G>T) c.699G>T (p.Arg233Ser) c.*526G>T (n.*526G>T) | |
| 8 | g.43122566G>A | CA371122563 | POMK | c.742G>A (p.Glu248Lys) c.*538G>A (n.*538G>A) c.460G>A (p.Glu154Lys) c.*662G>A (n.*662G>A) c.700G>A (p.Glu234Lys) c.*527G>A (n.*527G>A) | COSMIC COSMIC |
| 8 | g.43122566G>C | CA4736349 | POMK | c.742G>C (p.Glu248Gln) c.*538G>C (n.*538G>C) c.460G>C (p.Glu154Gln) c.*662G>C (n.*662G>C) c.700G>C (p.Glu234Gln) c.*527G>C (n.*527G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122566G= | CA1779747656 | POMK | c.742G= (p.Glu248=) c.*538G= (n.*538G=) c.460G= (p.Glu154=) c.*662G= (n.*662G=) c.700G= (p.Glu234=) c.*527G= (n.*527G=) | |
| 8 | g.43122566G>T | CA371122562 | POMK | c.742G>T (p.Glu248Ter) c.*538G>T (n.*538G>T) c.460G>T (p.Glu154Ter) c.*662G>T (n.*662G>T) c.700G>T (p.Glu234Ter) c.*527G>T (n.*527G>T) | |
| 8 | g.43122567A>C | CA371122564 | POMK | c.743A>C (p.Glu248Ala) c.*539A>C (n.*539A>C) c.461A>C (p.Glu154Ala) c.*663A>C (n.*663A>C) c.701A>C (p.Glu234Ala) c.*528A>C (n.*528A>C) | |
| 8 | g.43122567A>G | CA371122565 | POMK | c.743A>G (p.Glu248Gly) c.*539A>G (n.*539A>G) c.461A>G (p.Glu154Gly) c.*663A>G (n.*663A>G) c.701A>G (p.Glu234Gly) c.*528A>G (n.*528A>G) | |
| 8 | g.43122567A>T | CA371122566 | POMK | c.743A>T (p.Glu248Val) c.*539A>T (n.*539A>T) c.461A>T (p.Glu154Val) c.*663A>T (n.*663A>T) c.701A>T (p.Glu234Val) c.*528A>T (n.*528A>T) | |
| 8 | g.43122568G>A | CA460787438 | POMK | c.744G>A (p.Glu248=) c.*540G>A (n.*540G>A) c.462G>A (p.Glu154=) c.*664G>A (n.*664G>A) c.702G>A (p.Glu234=) c.*529G>A (n.*529G>A) | |
| 8 | g.43122568G>C | CA371122567 | POMK | c.744G>C (p.Glu248Asp) c.*540G>C (n.*540G>C) c.462G>C (p.Glu154Asp) c.*664G>C (n.*664G>C) c.702G>C (p.Glu234Asp) c.*529G>C (n.*529G>C) | |
| 8 | g.43122568G>T | CA371122568 | POMK | c.744G>T (p.Glu248Asp) c.*540G>T (n.*540G>T) c.462G>T (p.Glu154Asp) c.*664G>T (n.*664G>T) c.702G>T (p.Glu234Asp) c.*529G>T (n.*529G>T) | |
| 8 | g.43122569C>A | CA371122569 | POMK | c.745C>A (p.Leu249Met) c.*541C>A (n.*541C>A) c.463C>A (p.Leu155Met) c.*665C>A (n.*665C>A) c.703C>A (p.Leu235Met) c.*530C>A (n.*530C>A) | ClinVar dbSNP gnomAD v4 |
| 8 | g.43122569C>G | CA371122570 | POMK | c.745C>G (p.Leu249Val) c.*541C>G (n.*541C>G) c.463C>G (p.Leu155Val) c.*665C>G (n.*665C>G) c.703C>G (p.Leu235Val) c.*530C>G (n.*530C>G) | |
| 8 | g.43122569C>T | CA460787440 | POMK | c.745C>T (p.Leu249=) c.*541C>T (n.*541C>T) c.463C>T (p.Leu155=) c.*665C>T (n.*665C>T) c.703C>T (p.Leu235=) c.*530C>T (n.*530C>T) | ClinVar |
| 8 | g.43122570T>A | CA371122571 | POMK | c.746T>A (p.Leu249Gln) c.*542T>A (n.*542T>A) c.464T>A (p.Leu155Gln) c.*666T>A (n.*666T>A) c.704T>A (p.Leu235Gln) c.*531T>A (n.*531T>A) | |
| 8 | g.43122570T>C | CA371122572 | POMK | c.746T>C (p.Leu249Pro) c.*542T>C (n.*542T>C) c.464T>C (p.Leu155Pro) c.*666T>C (n.*666T>C) c.704T>C (p.Leu235Pro) c.*531T>C (n.*531T>C) | |
| 8 | g.43122570T>G | CA371122573 | POMK | c.746T>G (p.Leu249Arg) c.*542T>G (n.*542T>G) c.464T>G (p.Leu155Arg) c.*666T>G (n.*666T>G) c.704T>G (p.Leu235Arg) c.*531T>G (n.*531T>G) | |
| 8 | g.43122571G>A | CA176080388 | POMK | c.747G>A (p.Leu249=) c.*543G>A (n.*543G>A) c.465G>A (p.Leu155=) c.*667G>A (n.*667G>A) c.705G>A (p.Leu235=) c.*532G>A (n.*532G>A) | dbSNP |
| 8 | g.43122571G>C | CA460787443 | POMK | c.747G>C (p.Leu249=) c.*543G>C (n.*543G>C) c.465G>C (p.Leu155=) c.*667G>C (n.*667G>C) c.705G>C (p.Leu235=) c.*532G>C (n.*532G>C) | |
| 8 | g.43122571G= | CA1779747661 | POMK | c.747G= (p.Leu249=) c.*543G= (n.*543G=) c.465G= (p.Leu155=) c.*667G= (n.*667G=) c.705G= (p.Leu235=) c.*532G= (n.*532G=) | |
| 8 | g.43122571G>T | CA460787444 | POMK | c.747G>T (p.Leu249=) c.*543G>T (n.*543G>T) c.465G>T (p.Leu155=) c.*667G>T (n.*667G>T) c.705G>T (p.Leu235=) c.*532G>T (n.*532G>T) | |
| 8 | g.43122572C>A | CA371122574 | POMK | c.748C>A (p.His250Asn) c.*544C>A (n.*544C>A) c.466C>A (p.His156Asn) c.*668C>A (n.*668C>A) c.706C>A (p.His236Asn) c.*533C>A (n.*533C>A) | |
| 8 | g.43122572C>G | CA371122575 | POMK | c.748C>G (p.His250Asp) c.*544C>G (n.*544C>G) c.466C>G (p.His156Asp) c.*668C>G (n.*668C>G) c.706C>G (p.His236Asp) c.*533C>G (n.*533C>G) | |
| 8 | g.43122572C>T | CA371122576 | POMK | c.748C>T (p.His250Tyr) c.*544C>T (n.*544C>T) c.466C>T (p.His156Tyr) c.*668C>T (n.*668C>T) c.706C>T (p.His236Tyr) c.*533C>T (n.*533C>T) | |
| 8 | g.43122573A= | CA1779747665 | POMK | c.749A= (p.His250=) c.*545A= (n.*545A=) c.467A= (p.His156=) c.*669A= (n.*669A=) c.707A= (p.His236=) c.*534A= (n.*534A=) | |
| 8 | g.43122573A>C | CA371122578 | POMK | c.749A>C (p.His250Pro) c.*545A>C (n.*545A>C) c.467A>C (p.His156Pro) c.*669A>C (n.*669A>C) c.707A>C (p.His236Pro) c.*534A>C (n.*534A>C) | |
| 8 | g.43122573A>G | CA4736350 | POMK | c.749A>G (p.His250Arg) c.*545A>G (n.*545A>G) c.467A>G (p.His156Arg) c.*669A>G (n.*669A>G) c.707A>G (p.His236Arg) c.*534A>G (n.*534A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.43122573A>T | CA371122577 | POMK | c.749A>T (p.His250Leu) c.*545A>T (n.*545A>T) c.467A>T (p.His156Leu) c.*669A>T (n.*669A>T) c.707A>T (p.His236Leu) c.*534A>T (n.*534A>T) | |
| 8 | g.43122574T>A | CA371122579 | POMK | c.750T>A (p.His250Gln) c.*546T>A (n.*546T>A) c.468T>A (p.His156Gln) c.*670T>A (n.*670T>A) c.708T>A (p.His236Gln) c.*535T>A (n.*535T>A) | |
| 8 | g.43122574T>C | CA4736351 | POMK | c.750T>C (p.His250=) c.*546T>C (n.*546T>C) c.468T>C (p.His156=) c.*670T>C (n.*670T>C) c.708T>C (p.His236=) c.*535T>C (n.*535T>C) | dbSNP ExAC gnomAD v2 |
| 8 | g.43122574T>G | CA371122580 | POMK | c.750T>G (p.His250Gln) c.*546T>G (n.*546T>G) c.468T>G (p.His156Gln) c.*670T>G (n.*670T>G) c.708T>G (p.His236Gln) c.*535T>G (n.*535T>G) | |
| 8 | g.43122574T= | CA1779747668 | POMK | c.750T= (p.His250=) c.*546T= (n.*546T=) c.468T= (p.His156=) c.*670T= (n.*670T=) c.708T= (p.His236=) c.*535T= (n.*535T=) | |
| 8 | g.43122575G>A | CA371122581 | POMK | c.751G>A (p.Gly251Arg) c.*547G>A (n.*547G>A) c.469G>A (p.Gly157Arg) c.*671G>A (n.*671G>A) c.709G>A (p.Gly237Arg) c.*536G>A (n.*536G>A) | |
| 8 | g.43122575G>C | CA371122582 | POMK | c.751G>C (p.Gly251Arg) c.*547G>C (n.*547G>C) c.469G>C (p.Gly157Arg) c.*671G>C (n.*671G>C) c.709G>C (p.Gly237Arg) c.*536G>C (n.*536G>C) | |
| 8 | g.43122575G>T | CA371122583 | POMK | c.751G>T (p.Gly251Trp) c.*547G>T (n.*547G>T) c.469G>T (p.Gly157Trp) c.*671G>T (n.*671G>T) c.709G>T (p.Gly237Trp) c.*536G>T (n.*536G>T) | |
| 8 | g.43122578dup | CA2511368872 | POMK | c.754dup (p.Asp252GlyfsTer20) c.*550dup (n.*550dup) c.472dup (p.Asp158GlyfsTer20) c.*674dup (n.*674dup) c.712dup (p.Asp238GlyfsTer20) c.*539dup (n.*539dup) | ClinVar gnomAD v4 |
| 8 | g.43122576G>A | CA371122584 | POMK | c.752G>A (p.Gly251Glu) c.*548G>A (n.*548G>A) c.470G>A (p.Gly157Glu) c.*672G>A (n.*672G>A) c.710G>A (p.Gly237Glu) c.*537G>A (n.*537G>A) | |
| 8 | g.43122576G>C | CA371122585 | POMK | c.752G>C (p.Gly251Ala) c.*548G>C (n.*548G>C) c.470G>C (p.Gly157Ala) c.*672G>C (n.*672G>C) c.710G>C (p.Gly237Ala) c.*537G>C (n.*537G>C) | |
| 8 | g.43122576G>T | CA371122586 | POMK | c.752G>T (p.Gly251Val) c.*548G>T (n.*548G>T) c.470G>T (p.Gly157Val) c.*672G>T (n.*672G>T) c.710G>T (p.Gly237Val) c.*537G>T (n.*537G>T) | |
| 8 | g.43122577G>A | CA460787451 | POMK | c.753G>A (p.Gly251=) c.*549G>A (n.*549G>A) c.471G>A (p.Gly157=) c.*673G>A (n.*673G>A) c.711G>A (p.Gly237=) c.*538G>A (n.*538G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.43122577G>C | CA460787452 | POMK | c.753G>C (p.Gly251=) c.*549G>C (n.*549G>C) c.471G>C (p.Gly157=) c.*673G>C (n.*673G>C) c.711G>C (p.Gly237=) c.*538G>C (n.*538G>C) | |
| 8 | g.43122577G= | CA1779747671 | POMK | c.753G= (p.Gly251=) c.*549G= (n.*549G=) c.471G= (p.Gly157=) c.*673G= (n.*673G=) c.711G= (p.Gly237=) c.*538G= (n.*538G=) | |
| 8 | g.43122577G>T | CA460787454 | POMK | c.753G>T (p.Gly251=) c.*549G>T (n.*549G>T) c.471G>T (p.Gly157=) c.*673G>T (n.*673G>T) c.711G>T (p.Gly237=) c.*538G>T (n.*538G>T) | |
| 8 | g.43122578G>A | CA371122587 | POMK | c.754G>A (p.Asp252Asn) c.*550G>A (n.*550G>A) c.472G>A (p.Asp158Asn) c.*674G>A (n.*674G>A) c.712G>A (p.Asp238Asn) c.*539G>A (n.*539G>A) | gnomAD v4 |
| 8 | g.43122578G>C | CA371122588 | POMK | c.754G>C (p.Asp252His) c.*550G>C (n.*550G>C) c.472G>C (p.Asp158His) c.*674G>C (n.*674G>C) c.712G>C (p.Asp238His) c.*539G>C (n.*539G>C) | |
| 8 | g.43122578G>T | CA371122589 | POMK | c.754G>T (p.Asp252Tyr) c.*550G>T (n.*550G>T) c.472G>T (p.Asp158Tyr) c.*674G>T (n.*674G>T) c.712G>T (p.Asp238Tyr) c.*539G>T (n.*539G>T) | |
| 8 | g.43122579A>C | CA371122590 | POMK | c.755A>C (p.Asp252Ala) c.*551A>C (n.*551A>C) c.473A>C (p.Asp158Ala) c.*675A>C (n.*675A>C) c.713A>C (p.Asp238Ala) c.*540A>C (n.*540A>C) | |
| 8 | g.43122579A>G | CA371122592 | POMK | c.755A>G (p.Asp252Gly) c.*551A>G (n.*551A>G) c.473A>G (p.Asp158Gly) c.*675A>G (n.*675A>G) c.713A>G (p.Asp238Gly) c.*540A>G (n.*540A>G) | |
| 8 | g.43122579A>T | CA371122591 | POMK | c.755A>T (p.Asp252Val) c.*551A>T (n.*551A>T) c.473A>T (p.Asp158Val) c.*675A>T (n.*675A>T) c.713A>T (p.Asp238Val) c.*540A>T (n.*540A>T) | |
| 8 | g.43122580T>A | CA371122593 | POMK | c.756T>A (p.Asp252Glu) c.*552T>A (n.*552T>A) c.474T>A (p.Asp158Glu) c.*676T>A (n.*676T>A) c.714T>A (p.Asp238Glu) c.*541T>A (n.*541T>A) | |
| 8 | g.43122580T>C | CA460787458 | POMK | c.756T>C (p.Asp252=) c.*552T>C (n.*552T>C) c.474T>C (p.Asp158=) c.*676T>C (n.*676T>C) c.714T>C (p.Asp238=) c.*541T>C (n.*541T>C) | |
| 8 | g.43122580T>G | CA371122594 | POMK | c.756T>G (p.Asp252Glu) c.*552T>G (n.*552T>G) c.474T>G (p.Asp158Glu) c.*676T>G (n.*676T>G) c.714T>G (p.Asp238Glu) c.*541T>G (n.*541T>G) | |
| 8 | g.43122581T>A | CA371122595 | POMK | c.757T>A (p.Phe253Ile) c.*553T>A (n.*553T>A) c.475T>A (p.Phe159Ile) c.*677T>A (n.*677T>A) c.715T>A (p.Phe239Ile) c.*542T>A (n.*542T>A) | |
| 8 | g.43122581T>C | CA371122597 | POMK | c.757T>C (p.Phe253Leu) c.*553T>C (n.*553T>C) c.475T>C (p.Phe159Leu) c.*677T>C (n.*677T>C) c.715T>C (p.Phe239Leu) c.*542T>C (n.*542T>C) | |
| 8 | g.43122581T>G | CA371122596 | POMK | c.757T>G (p.Phe253Val) c.*553T>G (n.*553T>G) c.475T>G (p.Phe159Val) c.*677T>G (n.*677T>G) c.715T>G (p.Phe239Val) c.*542T>G (n.*542T>G) | |
| 8 | g.43122582T>A | CA371122598 | POMK | c.758T>A (p.Phe253Tyr) c.*554T>A (n.*554T>A) c.476T>A (p.Phe159Tyr) c.*678T>A (n.*678T>A) c.716T>A (p.Phe239Tyr) c.*543T>A (n.*543T>A) | |
| 8 | g.43122582T>C | CA371122599 | POMK | c.758T>C (p.Phe253Ser) c.*554T>C (n.*554T>C) c.476T>C (p.Phe159Ser) c.*678T>C (n.*678T>C) c.716T>C (p.Phe239Ser) c.*543T>C (n.*543T>C) | |
| 8 | g.43122582T>G | CA371122600 | POMK | c.758T>G (p.Phe253Cys) c.*554T>G (n.*554T>G) c.476T>G (p.Phe159Cys) c.*678T>G (n.*678T>G) c.716T>G (p.Phe239Cys) c.*543T>G (n.*543T>G) | |
| 8 | g.43122583C>A | CA371122601 | POMK | c.759C>A (p.Phe253Leu) c.*555C>A (n.*555C>A) c.477C>A (p.Phe159Leu) c.*679C>A (n.*679C>A) c.717C>A (p.Phe239Leu) c.*544C>A (n.*544C>A) | |
| 8 | g.43122583C= | CA1779747676 | POMK | c.759C= (p.Phe253=) c.*555C= (n.*555C=) c.477C= (p.Phe159=) c.*679C= (n.*679C=) c.717C= (p.Phe239=) c.*544C= (n.*544C=) | |
| 8 | g.43122583C>G | CA371122602 | POMK | c.759C>G (p.Phe253Leu) c.*555C>G (n.*555C>G) c.477C>G (p.Phe159Leu) c.*679C>G (n.*679C>G) c.717C>G (p.Phe239Leu) c.*544C>G (n.*544C>G) | |
| 8 | g.43122583C>T | CA4736352 | POMK | c.759C>T (p.Phe253=) c.*555C>T (n.*555C>T) c.477C>T (p.Phe159=) c.*679C>T (n.*679C>T) c.717C>T (p.Phe239=) c.*544C>T (n.*544C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122584G>A | CA4736353 | POMK | c.760G>A (p.Val254Met) c.*556G>A (n.*556G>A) c.478G>A (p.Val160Met) c.*680G>A (n.*680G>A) c.718G>A (p.Val240Met) c.*545G>A (n.*545G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122584G>C | CA371122603 | POMK | c.760G>C (p.Val254Leu) c.*556G>C (n.*556G>C) c.478G>C (p.Val160Leu) c.*680G>C (n.*680G>C) c.718G>C (p.Val240Leu) c.*545G>C (n.*545G>C) | |
| 8 | g.43122584G= | CA1779747680 | POMK | c.760G= (p.Val254=) c.*556G= (n.*556G=) c.478G= (p.Val160=) c.*680G= (n.*680G=) c.718G= (p.Val240=) c.*545G= (n.*545G=) | |
| 8 | g.43122584G>T | CA371122604 | POMK | c.760G>T (p.Val254Leu) c.*556G>T (n.*556G>T) c.478G>T (p.Val160Leu) c.*680G>T (n.*680G>T) c.718G>T (p.Val240Leu) c.*545G>T (n.*545G>T) | |
| 8 | g.43122585T>A | CA371122605 | POMK | c.761T>A (p.Val254Glu) c.*557T>A (n.*557T>A) c.479T>A (p.Val160Glu) c.*681T>A (n.*681T>A) c.719T>A (p.Val240Glu) c.*546T>A (n.*546T>A) | |
| 8 | g.43122585T>C | CA371122606 | POMK | c.761T>C (p.Val254Ala) c.*557T>C (n.*557T>C) c.479T>C (p.Val160Ala) c.*681T>C (n.*681T>C) c.719T>C (p.Val240Ala) c.*546T>C (n.*546T>C) | |
| 8 | g.43122585T>G | CA371122607 | POMK | c.761T>G (p.Val254Gly) c.*557T>G (n.*557T>G) c.479T>G (p.Val160Gly) c.*681T>G (n.*681T>G) c.719T>G (p.Val240Gly) c.*546T>G (n.*546T>G) | |
| 8 | g.43122586G>A | CA460787465 | POMK | c.762G>A (p.Val254=) c.*558G>A (n.*558G>A) c.480G>A (p.Val160=) c.*682G>A (n.*682G>A) c.720G>A (p.Val240=) c.*547G>A (n.*547G>A) | |
| 8 | g.43122586G>C | CA460787467 | POMK | c.762G>C (p.Val254=) c.*558G>C (n.*558G>C) c.480G>C (p.Val160=) c.*682G>C (n.*682G>C) c.720G>C (p.Val240=) c.*547G>C (n.*547G>C) | |
| 8 | g.43122586G>T | CA460787469 | POMK | c.762G>T (p.Val254=) c.*558G>T (n.*558G>T) c.480G>T (p.Val160=) c.*682G>T (n.*682G>T) c.720G>T (p.Val240=) c.*547G>T (n.*547G>T) | |
| 8 | g.43122587G>A | CA371122608 | POMK | c.763G>A (p.Ala255Thr) c.*559G>A (n.*559G>A) c.481G>A (p.Ala161Thr) c.*683G>A (n.*683G>A) c.721G>A (p.Ala241Thr) c.*548G>A (n.*548G>A) | gnomAD v4 |
| 8 | g.43122587G>C | CA371122610 | POMK | c.763G>C (p.Ala255Pro) c.*559G>C (n.*559G>C) c.481G>C (p.Ala161Pro) c.*683G>C (n.*683G>C) c.721G>C (p.Ala241Pro) c.*548G>C (n.*548G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.43122587G= | CA1779747683 | POMK | c.763G= (p.Ala255=) c.*559G= (n.*559G=) c.481G= (p.Ala161=) c.*683G= (n.*683G=) c.721G= (p.Ala241=) c.*548G= (n.*548G=) | |
| 8 | g.43122587G>T | CA371122609 | POMK | c.763G>T (p.Ala255Ser) c.*559G>T (n.*559G>T) c.481G>T (p.Ala161Ser) c.*683G>T (n.*683G>T) c.721G>T (p.Ala241Ser) c.*548G>T (n.*548G>T) | |
| 8 | g.43122588C>A | CA371122611 | POMK | c.764C>A (p.Ala255Asp) c.*560C>A (n.*560C>A) c.482C>A (p.Ala161Asp) c.*684C>A (n.*684C>A) c.722C>A (p.Ala241Asp) c.*549C>A (n.*549C>A) | |
| 8 | g.43122588C>G | CA371122612 | POMK | c.764C>G (p.Ala255Gly) c.*560C>G (n.*560C>G) c.482C>G (p.Ala161Gly) c.*684C>G (n.*684C>G) c.722C>G (p.Ala241Gly) c.*549C>G (n.*549C>G) | |
| 8 | g.43122588C>T | CA371122613 | POMK | c.764C>T (p.Ala255Val) c.*560C>T (n.*560C>T) c.482C>T (p.Ala161Val) c.*684C>T (n.*684C>T) c.722C>T (p.Ala241Val) c.*549C>T (n.*549C>T) | |
| 8 | g.43122589T>A | CA460787473 | POMK | c.765T>A (p.Ala255=) c.*561T>A (n.*561T>A) c.483T>A (p.Ala161=) c.*685T>A (n.*685T>A) c.723T>A (p.Ala241=) c.*550T>A (n.*550T>A) | |
| 8 | g.43122589T>C | CA460787475 | POMK | c.765T>C (p.Ala255=) c.*561T>C (n.*561T>C) c.483T>C (p.Ala161=) c.*685T>C (n.*685T>C) c.723T>C (p.Ala241=) c.*550T>C (n.*550T>C) | |
| 8 | g.43122589T>G | CA460787471 | POMK | c.765T>G (p.Ala255=) c.*561T>G (n.*561T>G) c.483T>G (p.Ala161=) c.*685T>G (n.*685T>G) c.723T>G (p.Ala241=) c.*550T>G (n.*550T>G) | |
| 8 | g.43122590C>A | CA371122614 | POMK | c.766C>A (p.Pro256Thr) c.*562C>A (n.*562C>A) c.484C>A (p.Pro162Thr) c.*686C>A (n.*686C>A) c.724C>A (p.Pro242Thr) c.*551C>A (n.*551C>A) | |
| 8 | g.43122590C= | CA1779747686 | POMK | c.766C= (p.Pro256=) c.*562C= (n.*562C=) c.484C= (p.Pro162=) c.*686C= (n.*686C=) c.724C= (p.Pro242=) c.*551C= (n.*551C=) | |
| 8 | g.43122590C>G | CA4736354 | POMK | c.766C>G (p.Pro256Ala) c.*562C>G (n.*562C>G) c.484C>G (p.Pro162Ala) c.*686C>G (n.*686C>G) c.724C>G (p.Pro242Ala) c.*551C>G (n.*551C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.43122590C>T | CA371122615 | POMK | c.766C>T (p.Pro256Ser) c.*562C>T (n.*562C>T) c.484C>T (p.Pro162Ser) c.*686C>T (n.*686C>T) c.724C>T (p.Pro242Ser) c.*551C>T (n.*551C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.43122591C>A | CA371122616 | POMK | c.767C>A (p.Pro256Gln) c.*563C>A (n.*563C>A) c.485C>A (p.Pro162Gln) c.*687C>A (n.*687C>A) c.725C>A (p.Pro242Gln) c.*552C>A (n.*552C>A) | |
| 8 | g.43122591C>G | CA371122617 | POMK | c.767C>G (p.Pro256Arg) c.*563C>G (n.*563C>G) c.485C>G (p.Pro162Arg) c.*687C>G (n.*687C>G) c.725C>G (p.Pro242Arg) c.*552C>G (n.*552C>G) | |
| 8 | g.43122591C>T | CA371122618 | POMK | c.767C>T (p.Pro256Leu) c.*563C>T (n.*563C>T) c.485C>T (p.Pro162Leu) c.*687C>T (n.*687C>T) c.725C>T (p.Pro242Leu) c.*552C>T (n.*552C>T) | |
| 8 | g.43122592A>C | CA460787478 | POMK | c.768A>C (p.Pro256=) c.*564A>C (n.*564A>C) c.486A>C (p.Pro162=) c.*688A>C (n.*688A>C) c.726A>C (p.Pro242=) c.*553A>C (n.*553A>C) | |
| 8 | g.43122592A>G | CA460787476 | POMK | c.768A>G (p.Pro256=) c.*564A>G (n.*564A>G) c.486A>G (p.Pro162=) c.*688A>G (n.*688A>G) c.726A>G (p.Pro242=) c.*553A>G (n.*553A>G) | |
| 8 | g.43122592A>T | CA460787477 | POMK | c.768A>T (p.Pro256=) c.*564A>T (n.*564A>T) c.486A>T (p.Pro162=) c.*688A>T (n.*688A>T) c.726A>T (p.Pro242=) c.*553A>T (n.*553A>T) | |
| 8 | g.43122593G>A | CA371122620 | POMK | c.769G>A (p.Glu257Lys) c.*565G>A (n.*565G>A) c.487G>A (p.Glu163Lys) c.*689G>A (n.*689G>A) c.727G>A (p.Glu243Lys) c.*554G>A (n.*554G>A) | |
| 8 | g.43122593G>C | CA371122621 | POMK | c.769G>C (p.Glu257Gln) c.*565G>C (n.*565G>C) c.487G>C (p.Glu163Gln) c.*689G>C (n.*689G>C) c.727G>C (p.Glu243Gln) c.*554G>C (n.*554G>C) | |
| 8 | g.43122593G>T | CA371122619 | POMK | c.769G>T (p.Glu257Ter) c.*565G>T (n.*565G>T) c.487G>T (p.Glu163Ter) c.*689G>T (n.*689G>T) c.727G>T (p.Glu243Ter) c.*554G>T (n.*554G>T) | |
| 8 | g.43122594A>C | CA371122622 | POMK | c.770A>C (p.Glu257Ala) c.*566A>C (n.*566A>C) c.488A>C (p.Glu163Ala) c.*690A>C (n.*690A>C) c.728A>C (p.Glu243Ala) c.*555A>C (n.*555A>C) | gnomAD v4 |
| 8 | g.43122594A>G | CA371122623 | POMK | c.770A>G (p.Glu257Gly) c.*566A>G (n.*566A>G) c.488A>G (p.Glu163Gly) c.*690A>G (n.*690A>G) c.728A>G (p.Glu243Gly) c.*555A>G (n.*555A>G) | |
| 8 | g.43122594A>T | CA371122624 | POMK | c.770A>T (p.Glu257Val) c.*566A>T (n.*566A>T) c.488A>T (p.Glu163Val) c.*690A>T (n.*690A>T) c.728A>T (p.Glu243Val) c.*555A>T (n.*555A>T) | |
| 8 | g.43122595G>A | CA460787482 | POMK | c.771G>A (p.Glu257=) c.*567G>A (n.*567G>A) c.489G>A (p.Glu163=) c.*691G>A (n.*691G>A) c.729G>A (p.Glu243=) c.*556G>A (n.*556G>A) | |
| 8 | g.43122595G>C | CA371122625 | POMK | c.771G>C (p.Glu257Asp) c.*567G>C (n.*567G>C) c.489G>C (p.Glu163Asp) c.*691G>C (n.*691G>C) c.729G>C (p.Glu243Asp) c.*556G>C (n.*556G>C) | |
| 8 | g.43122595G>T | CA371122626 | POMK | c.771G>T (p.Glu257Asp) c.*567G>T (n.*567G>T) c.489G>T (p.Glu163Asp) c.*691G>T (n.*691G>T) c.729G>T (p.Glu243Asp) c.*556G>T (n.*556G>T) | |
| 8 | g.43122596C>A | CA371122627 | POMK | c.772C>A (p.Gln258Lys) c.*568C>A (n.*568C>A) c.490C>A (p.Gln164Lys) c.*692C>A (n.*692C>A) c.730C>A (p.Gln244Lys) c.*557C>A (n.*557C>A) | |
| 8 | g.43122596C= | CA1779747692 | POMK | c.772C= (p.Gln258=) c.*568C= (n.*568C=) c.490C= (p.Gln164=) c.*692C= (n.*692C=) c.730C= (p.Gln244=) c.*557C= (n.*557C=) | |
| 8 | g.43122596C>G | CA371122628 | POMK | c.772C>G (p.Gln258Glu) c.*568C>G (n.*568C>G) c.490C>G (p.Gln164Glu) c.*692C>G (n.*692C>G) c.730C>G (p.Gln244Glu) c.*557C>G (n.*557C>G) | |
| 8 | g.43122596C>T | CA371122629 | POMK | c.772C>T (p.Gln258Ter) c.*568C>T (n.*568C>T) c.490C>T (p.Gln164Ter) c.*692C>T (n.*692C>T) c.730C>T (p.Gln244Ter) c.*557C>T (n.*557C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.43122597A= | CA1779747698 | POMK | c.773A= (p.Gln258=) c.*569A= (n.*569A=) c.491A= (p.Gln164=) c.*693A= (n.*693A=) c.731A= (p.Gln244=) c.*558A= (n.*558A=) | |
| 8 | g.43122597A>C | CA371122630 | POMK | c.773A>C (p.Gln258Pro) c.*569A>C (n.*569A>C) c.491A>C (p.Gln164Pro) c.*693A>C (n.*693A>C) c.731A>C (p.Gln244Pro) c.*558A>C (n.*558A>C) | |
| 8 | g.43122597A>G | CA143783 | POMK | c.773A>G (p.Gln258Arg) c.*569A>G (n.*569A>G) c.491A>G (p.Gln164Arg) c.*693A>G (n.*693A>G) c.731A>G (p.Gln244Arg) c.*558A>G (n.*558A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122597A>T | CA371122631 | POMK | c.773A>T (p.Gln258Leu) c.*569A>T (n.*569A>T) c.491A>T (p.Gln164Leu) c.*693A>T (n.*693A>T) c.731A>T (p.Gln244Leu) c.*558A>T (n.*558A>T) | |
| 8 | g.43122598A= | CA1779747703 | POMK | c.774A= (p.Gln258=) c.*570A= (n.*570A=) c.492A= (p.Gln164=) c.*694A= (n.*694A=) c.732A= (p.Gln244=) c.*559A= (n.*559A=) | |
| 8 | g.43122598A>C | CA4736355 | POMK | c.774A>C (p.Gln258His) c.*570A>C (n.*570A>C) c.492A>C (p.Gln164His) c.*694A>C (n.*694A>C) c.732A>C (p.Gln244His) c.*559A>C (n.*559A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.43122598A>G | CA4736356 | POMK | c.774A>G (p.Gln258=) c.*570A>G (n.*570A>G) c.492A>G (p.Gln164=) c.*694A>G (n.*694A>G) c.732A>G (p.Gln244=) c.*559A>G (n.*559A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122598A>T | CA371122632 | POMK | c.774A>T (p.Gln258His) c.*570A>T (n.*570A>T) c.492A>T (p.Gln164His) c.*694A>T (n.*694A>T) c.732A>T (p.Gln244His) c.*559A>T (n.*559A>T) | |
| 8 | g.43122599C>A | CA371122633 | POMK | c.775C>A (p.Leu259Met) c.*571C>A (n.*571C>A) c.493C>A (p.Leu165Met) c.*695C>A (n.*695C>A) c.733C>A (p.Leu245Met) c.*560C>A (n.*560C>A) | |
| 8 | g.43122599C= | CA1779747710 | POMK | c.775C= (p.Leu259=) c.*571C= (n.*571C=) c.493C= (p.Leu165=) c.*695C= (n.*695C=) c.733C= (p.Leu245=) c.*560C= (n.*560C=) | |
| 8 | g.43122599C>G | CA371122634 | POMK | c.775C>G (p.Leu259Val) c.*571C>G (n.*571C>G) c.493C>G (p.Leu165Val) c.*695C>G (n.*695C>G) c.733C>G (p.Leu245Val) c.*560C>G (n.*560C>G) | |
| 8 | g.43122599C>T | CA176080467 | POMK | c.775C>T (p.Leu259=) c.*571C>T (n.*571C>T) c.493C>T (p.Leu165=) c.*695C>T (n.*695C>T) c.733C>T (p.Leu245=) c.*560C>T (n.*560C>T) | ClinVar dbSNP gnomAD v4 |
| 8 | g.43122600T>A | CA371122635 | POMK | c.776T>A (p.Leu259Gln) c.*572T>A (n.*572T>A) c.494T>A (p.Leu165Gln) c.*696T>A (n.*696T>A) c.734T>A (p.Leu245Gln) c.*561T>A (n.*561T>A) | |
| 8 | g.43122600T>C | CA371122636 | POMK | c.776T>C (p.Leu259Pro) c.*572T>C (n.*572T>C) c.494T>C (p.Leu165Pro) c.*696T>C (n.*696T>C) c.734T>C (p.Leu245Pro) c.*561T>C (n.*561T>C) | COSMIC COSMIC |
| 8 | g.43122600T>G | CA371122637 | POMK | c.776T>G (p.Leu259Arg) c.*572T>G (n.*572T>G) c.494T>G (p.Leu165Arg) c.*696T>G (n.*696T>G) c.734T>G (p.Leu245Arg) c.*561T>G (n.*561T>G) | |
| 8 | g.43122601G>A | CA460787485 | POMK | c.777G>A (p.Leu259=) c.*573G>A (n.*573G>A) c.495G>A (p.Leu165=) c.*697G>A (n.*697G>A) c.735G>A (p.Leu245=) c.*562G>A (n.*562G>A) | gnomAD v4 |
| 8 | g.43122601G>C | CA460787486 | POMK | c.777G>C (p.Leu259=) c.*573G>C (n.*573G>C) c.495G>C (p.Leu165=) c.*697G>C (n.*697G>C) c.735G>C (p.Leu245=) c.*562G>C (n.*562G>C) | |
| 8 | g.43122601G>T | CA460787487 | POMK | c.777G>T (p.Leu259=) c.*573G>T (n.*573G>T) c.495G>T (p.Leu165=) c.*697G>T (n.*697G>T) c.735G>T (p.Leu245=) c.*562G>T (n.*562G>T) | |
| 8 | g.43122602T>A | CA371122638 | POMK | c.778T>A (p.Trp260Arg) c.*574T>A (n.*574T>A) c.496T>A (p.Trp166Arg) c.*698T>A (n.*698T>A) c.736T>A (p.Trp246Arg) c.*563T>A (n.*563T>A) | |
| 8 | g.43122602T>C | CA371122639 | POMK | c.778T>C (p.Trp260Arg) c.*574T>C (n.*574T>C) c.496T>C (p.Trp166Arg) c.*698T>C (n.*698T>C) c.736T>C (p.Trp246Arg) c.*563T>C (n.*563T>C) | |
| 8 | g.43122602T>G | CA371122640 | POMK | c.778T>G (p.Trp260Gly) c.*574T>G (n.*574T>G) c.496T>G (p.Trp166Gly) c.*698T>G (n.*698T>G) c.736T>G (p.Trp246Gly) c.*563T>G (n.*563T>G) | |
| 8 | g.43122603G>A | CA371122641 | POMK | c.779G>A (p.Trp260Ter) c.*575G>A (n.*575G>A) c.497G>A (p.Trp166Ter) c.*699G>A (n.*699G>A) c.737G>A (p.Trp246Ter) c.*564G>A (n.*564G>A) | |
| 8 | g.43122603G>C | CA371122642 | POMK | c.779G>C (p.Trp260Ser) c.*575G>C (n.*575G>C) c.497G>C (p.Trp166Ser) c.*699G>C (n.*699G>C) c.737G>C (p.Trp246Ser) c.*564G>C (n.*564G>C) | |
| 8 | g.43122603G>T | CA371122643 | POMK | c.779G>T (p.Trp260Leu) c.*575G>T (n.*575G>T) c.497G>T (p.Trp166Leu) c.*699G>T (n.*699G>T) c.737G>T (p.Trp246Leu) c.*564G>T (n.*564G>T) | |
| 8 | g.43122604G>A | CA371122644 | POMK | c.780G>A (p.Trp260Ter) c.*576G>A (n.*576G>A) c.498G>A (p.Trp166Ter) c.*700G>A (n.*700G>A) c.738G>A (p.Trp246Ter) c.*565G>A (n.*565G>A) | gnomAD v4 |
| 8 | g.43122604G>C | CA371122645 | POMK | c.780G>C (p.Trp260Cys) c.*576G>C (n.*576G>C) c.498G>C (p.Trp166Cys) c.*700G>C (n.*700G>C) c.738G>C (p.Trp246Cys) c.*565G>C (n.*565G>C) | |
| 8 | g.43122604G>T | CA371122646 | POMK | c.780G>T (p.Trp260Cys) c.*576G>T (n.*576G>T) c.498G>T (p.Trp166Cys) c.*700G>T (n.*700G>T) c.738G>T (p.Trp246Cys) c.*565G>T (n.*565G>T) | |
| 8 | g.43122605C>A | CA371122649 | POMK | c.781C>A (p.Pro261Thr) c.*577C>A (n.*577C>A) c.499C>A (p.Pro167Thr) c.*701C>A (n.*701C>A) c.739C>A (p.Pro247Thr) c.*566C>A (n.*566C>A) | |
| 8 | g.43122605C>G | CA371122648 | POMK | c.781C>G (p.Pro261Ala) c.*577C>G (n.*577C>G) c.499C>G (p.Pro167Ala) c.*701C>G (n.*701C>G) c.739C>G (p.Pro247Ala) c.*566C>G (n.*566C>G) | |
| 8 | g.43122605C>T | CA371122647 | POMK | c.781C>T (p.Pro261Ser) c.*577C>T (n.*577C>T) c.499C>T (p.Pro167Ser) c.*701C>T (n.*701C>T) c.739C>T (p.Pro247Ser) c.*566C>T (n.*566C>T) | |
| 8 | g.43122606C>A | CA371122650 | POMK | c.782C>A (p.Pro261His) c.*578C>A (n.*578C>A) c.500C>A (p.Pro167His) c.*702C>A (n.*702C>A) c.740C>A (p.Pro247His) c.*567C>A (n.*567C>A) | |
| 8 | g.43122606C= | CA1779747716 | POMK | c.782C= (p.Pro261=) c.*578C= (n.*578C=) c.500C= (p.Pro167=) c.*702C= (n.*702C=) c.740C= (p.Pro247=) c.*567C= (n.*567C=) | |
| 8 | g.43122606C>G | CA371122651 | POMK | c.782C>G (p.Pro261Arg) c.*578C>G (n.*578C>G) c.500C>G (p.Pro167Arg) c.*702C>G (n.*702C>G) c.740C>G (p.Pro247Arg) c.*567C>G (n.*567C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122606C>T | CA371122652 | POMK | c.782C>T (p.Pro261Leu) c.*578C>T (n.*578C>T) c.500C>T (p.Pro167Leu) c.*702C>T (n.*702C>T) c.740C>T (p.Pro247Leu) c.*567C>T (n.*567C>T) | gnomAD v4 |
| 8 | g.43122607C>A | CA460787490 | POMK | c.783C>A (p.Pro261=) c.*579C>A (n.*579C>A) c.501C>A (p.Pro167=) c.*703C>A (n.*703C>A) c.741C>A (p.Pro247=) c.*568C>A (n.*568C>A) | |
| 8 | g.43122607C>G | CA460787491 | POMK | c.783C>G (p.Pro261=) c.*579C>G (n.*579C>G) c.501C>G (p.Pro167=) c.*703C>G (n.*703C>G) c.741C>G (p.Pro247=) c.*568C>G (n.*568C>G) | |
| 8 | g.43122607C>T | CA460787492 | POMK | c.783C>T (p.Pro261=) c.*579C>T (n.*579C>T) c.501C>T (p.Pro167=) c.*703C>T (n.*703C>T) c.741C>T (p.Pro247=) c.*568C>T (n.*568C>T) | gnomAD v4 |
| 8 | g.43122608T>A | CA371122653 | POMK | c.784T>A (p.Tyr262Asn) c.*580T>A (n.*580T>A) c.502T>A (p.Tyr168Asn) c.*704T>A (n.*704T>A) c.742T>A (p.Tyr248Asn) c.*569T>A (n.*569T>A) | |
| 8 | g.43122608T>C | CA371122654 | POMK | c.784T>C (p.Tyr262His) c.*580T>C (n.*580T>C) c.502T>C (p.Tyr168His) c.*704T>C (n.*704T>C) c.742T>C (p.Tyr248His) c.*569T>C (n.*569T>C) | gnomAD v4 |
| 8 | g.43122608T>G | CA371122655 | POMK | c.784T>G (p.Tyr262Asp) c.*580T>G (n.*580T>G) c.502T>G (p.Tyr168Asp) c.*704T>G (n.*704T>G) c.742T>G (p.Tyr248Asp) c.*569T>G (n.*569T>G) | |
| 8 | g.43122609A= | CA1779747719 | POMK | c.785A= (p.Tyr262=) c.*581A= (n.*581A=) c.503A= (p.Tyr168=) c.*705A= (n.*705A=) c.743A= (p.Tyr248=) c.*570A= (n.*570A=) | |
| 8 | g.43122609A>C | CA371122658 | POMK | c.785A>C (p.Tyr262Ser) c.*581A>C (n.*581A>C) c.503A>C (p.Tyr168Ser) c.*705A>C (n.*705A>C) c.743A>C (p.Tyr248Ser) c.*570A>C (n.*570A>C) | |
| 8 | g.43122609A>G | CA371122656 | POMK | c.785A>G (p.Tyr262Cys) c.*581A>G (n.*581A>G) c.503A>G (p.Tyr168Cys) c.*705A>G (n.*705A>G) c.743A>G (p.Tyr248Cys) c.*570A>G (n.*570A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122609A>T | CA371122657 | POMK | c.785A>T (p.Tyr262Phe) c.*581A>T (n.*581A>T) c.503A>T (p.Tyr168Phe) c.*705A>T (n.*705A>T) c.743A>T (p.Tyr248Phe) c.*570A>T (n.*570A>T) | |
| 8 | g.43122610T>A | CA371122659 | POMK | c.786T>A (p.Tyr262Ter) c.*582T>A (n.*582T>A) c.504T>A (p.Tyr168Ter) c.*706T>A (n.*706T>A) c.744T>A (p.Tyr248Ter) c.*571T>A (n.*571T>A) | |
| 8 | g.43122610T>C | CA460787494 | POMK | c.786T>C (p.Tyr262=) c.*582T>C (n.*582T>C) c.504T>C (p.Tyr168=) c.*706T>C (n.*706T>C) c.744T>C (p.Tyr248=) c.*571T>C (n.*571T>C) | gnomAD v4 |
| 8 | g.43122610T>G | CA371122660 | POMK | c.786T>G (p.Tyr262Ter) c.*582T>G (n.*582T>G) c.504T>G (p.Tyr168Ter) c.*706T>G (n.*706T>G) c.744T>G (p.Tyr248Ter) c.*571T>G (n.*571T>G) | |
| 8 | g.43122611G>A | CA371122661 | POMK | c.787G>A (p.Gly263Arg) c.*583G>A (n.*583G>A) c.505G>A (p.Gly169Arg) c.*707G>A (n.*707G>A) c.745G>A (p.Gly249Arg) c.*572G>A (n.*572G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.43122611G>C | CA371122662 | POMK | c.787G>C (p.Gly263Arg) c.*583G>C (n.*583G>C) c.505G>C (p.Gly169Arg) c.*707G>C (n.*707G>C) c.745G>C (p.Gly249Arg) c.*572G>C (n.*572G>C) | |
| 8 | g.43122611G= | CA1779747722 | POMK | c.787G= (p.Gly263=) c.*583G= (n.*583G=) c.505G= (p.Gly169=) c.*707G= (n.*707G=) c.745G= (p.Gly249=) c.*572G= (n.*572G=) | |
| 8 | g.43122611G>T | CA371122663 | POMK | c.787G>T (p.Gly263Ter) c.*583G>T (n.*583G>T) c.505G>T (p.Gly169Ter) c.*707G>T (n.*707G>T) c.745G>T (p.Gly249Ter) c.*572G>T (n.*572G>T) | |
| 8 | g.43122612G>A | CA371122666 | POMK | c.788G>A (p.Gly263Glu) c.*584G>A (n.*584G>A) c.506G>A (p.Gly169Glu) c.*708G>A (n.*708G>A) c.746G>A (p.Gly249Glu) c.*573G>A (n.*573G>A) | dbSNP |
| 8 | g.43122612G>C | CA371122664 | POMK | c.788G>C (p.Gly263Ala) c.*584G>C (n.*584G>C) c.506G>C (p.Gly169Ala) c.*708G>C (n.*708G>C) c.746G>C (p.Gly249Ala) c.*573G>C (n.*573G>C) | |
| 8 | g.43122612G= | CA1779747725 | POMK | c.788G= (p.Gly263=) c.*584G= (n.*584G=) c.506G= (p.Gly169=) c.*708G= (n.*708G=) c.746G= (p.Gly249=) c.*573G= (n.*573G=) | |
| 8 | g.43122612G>T | CA371122665 | POMK | c.788G>T (p.Gly263Val) c.*584G>T (n.*584G>T) c.506G>T (p.Gly169Val) c.*708G>T (n.*708G>T) c.746G>T (p.Gly249Val) c.*573G>T (n.*573G>T) | |
| 8 | g.43122613A>C | CA460787496 | POMK | c.789A>C (p.Gly263=) c.*585A>C (n.*585A>C) c.507A>C (p.Gly169=) c.*709A>C (n.*709A>C) c.747A>C (p.Gly249=) c.*574A>C (n.*574A>C) | |
| 8 | g.43122613A>G | CA460787497 | POMK | c.789A>G (p.Gly263=) c.*585A>G (n.*585A>G) c.507A>G (p.Gly169=) c.*709A>G (n.*709A>G) c.747A>G (p.Gly249=) c.*574A>G (n.*574A>G) | |
| 8 | g.43122613A>T | CA460787498 | POMK | c.789A>T (p.Gly263=) c.*585A>T (n.*585A>T) c.507A>T (p.Gly169=) c.*709A>T (n.*709A>T) c.747A>T (p.Gly249=) c.*574A>T (n.*574A>T) | |
| 8 | g.43122614G>A | CA371122667 | POMK | c.790G>A (p.Glu264Lys) c.*586G>A (n.*586G>A) c.508G>A (p.Glu170Lys) c.*710G>A (n.*710G>A) c.748G>A (p.Glu250Lys) c.*575G>A (n.*575G>A) | |
| 8 | g.43122614G>C | CA371122668 | POMK | c.790G>C (p.Glu264Gln) c.*586G>C (n.*586G>C) c.508G>C (p.Glu170Gln) c.*710G>C (n.*710G>C) c.748G>C (p.Glu250Gln) c.*575G>C (n.*575G>C) | |
| 8 | g.43122614G>T | CA371122669 | POMK | c.790G>T (p.Glu264Ter) c.*586G>T (n.*586G>T) c.508G>T (p.Glu170Ter) c.*710G>T (n.*710G>T) c.748G>T (p.Glu250Ter) c.*575G>T (n.*575G>T) | |
| 8 | g.43122615A>C | CA371122670 | POMK | c.791A>C (p.Glu264Ala) c.*587A>C (n.*587A>C) c.509A>C (p.Glu170Ala) c.*711A>C (n.*711A>C) c.749A>C (p.Glu250Ala) c.*576A>C (n.*576A>C) | |
| 8 | g.43122615A>G | CA371122671 | POMK | c.791A>G (p.Glu264Gly) c.*587A>G (n.*587A>G) c.509A>G (p.Glu170Gly) c.*711A>G (n.*711A>G) c.749A>G (p.Glu250Gly) c.*576A>G (n.*576A>G) | gnomAD v4 |
| 8 | g.43122615A>T | CA371122672 | POMK | c.791A>T (p.Glu264Val) c.*587A>T (n.*587A>T) c.509A>T (p.Glu170Val) c.*711A>T (n.*711A>T) c.749A>T (p.Glu250Val) c.*576A>T (n.*576A>T) | gnomAD v4 |
| 8 | g.43122615dup | CA2687148499 | POMK | c.791dup (p.Asp265GlyfsTer7) c.*587dup (n.*587dup) c.509dup (p.Asp171GlyfsTer7) c.*711dup (n.*711dup) c.749dup (p.Asp251GlyfsTer7) c.*576dup (n.*576dup) | gnomAD v4 |
| 8 | g.43122616G>A | CA4736357 | POMK | c.792G>A (p.Glu264=) c.*588G>A (n.*588G>A) c.510G>A (p.Glu170=) c.*712G>A (n.*712G>A) c.750G>A (p.Glu250=) c.*577G>A (n.*577G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122616G>C | CA371122673 | POMK | c.792G>C (p.Glu264Asp) c.*588G>C (n.*588G>C) c.510G>C (p.Glu170Asp) c.*712G>C (n.*712G>C) c.750G>C (p.Glu250Asp) c.*577G>C (n.*577G>C) | |
| 8 | g.43122616G= | CA1779747727 | POMK | c.792G= (p.Glu264=) c.*588G= (n.*588G=) c.510G= (p.Glu170=) c.*712G= (n.*712G=) c.750G= (p.Glu250=) c.*577G= (n.*577G=) | |
| 8 | g.43122616G>T | CA371122674 | POMK | c.792G>T (p.Glu264Asp) c.*588G>T (n.*588G>T) c.510G>T (p.Glu170Asp) c.*712G>T (n.*712G>T) c.750G>T (p.Glu250Asp) c.*577G>T (n.*577G>T) | |
| 8 | g.43122617G>A | CA371122675 | POMK | c.793G>A (p.Asp265Asn) c.*589G>A (n.*589G>A) c.511G>A (p.Asp171Asn) c.*713G>A (n.*713G>A) c.751G>A (p.Asp251Asn) c.*578G>A (n.*578G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.43122617G>C | CA371122676 | POMK | c.793G>C (p.Asp265His) c.*589G>C (n.*589G>C) c.511G>C (p.Asp171His) c.*713G>C (n.*713G>C) c.751G>C (p.Asp251His) c.*578G>C (n.*578G>C) | |
| 8 | g.43122617G= | CA1779747732 | POMK | c.793G= (p.Asp265=) c.*589G= (n.*589G=) c.511G= (p.Asp171=) c.*713G= (n.*713G=) c.751G= (p.Asp251=) c.*578G= (n.*578G=) | |
| 8 | g.43122617G>T | CA371122677 | POMK | c.793G>T (p.Asp265Tyr) c.*589G>T (n.*589G>T) c.511G>T (p.Asp171Tyr) c.*713G>T (n.*713G>T) c.751G>T (p.Asp251Tyr) c.*578G>T (n.*578G>T) | |
| 8 | g.43122618A>C | CA371122678 | POMK | c.794A>C (p.Asp265Ala) c.*590A>C (n.*590A>C) c.512A>C (p.Asp171Ala) c.*714A>C (n.*714A>C) c.752A>C (p.Asp251Ala) c.*579A>C (n.*579A>C) | |
| 8 | g.43122618A>G | CA371122680 | POMK | c.794A>G (p.Asp265Gly) c.*590A>G (n.*590A>G) c.512A>G (p.Asp171Gly) c.*714A>G (n.*714A>G) c.752A>G (p.Asp251Gly) c.*579A>G (n.*579A>G) | |
| 8 | g.43122618A>T | CA371122679 | POMK | c.794A>T (p.Asp265Val) c.*590A>T (n.*590A>T) c.512A>T (p.Asp171Val) c.*714A>T (n.*714A>T) c.752A>T (p.Asp251Val) c.*579A>T (n.*579A>T) | |
| 8 | g.43122619C>A | CA371122681 | POMK | c.795C>A (p.Asp265Glu) c.*591C>A (n.*591C>A) c.513C>A (p.Asp171Glu) c.*715C>A (n.*715C>A) c.753C>A (p.Asp251Glu) c.*580C>A (n.*580C>A) | dbSNP |
| 8 | g.43122619C= | CA1779747738 | POMK | c.795C= (p.Asp265=) c.*591C= (n.*591C=) c.513C= (p.Asp171=) c.*715C= (n.*715C=) c.753C= (p.Asp251=) c.*580C= (n.*580C=) | |
| 8 | g.43122619C>G | CA371122682 | POMK | c.795C>G (p.Asp265Glu) c.*591C>G (n.*591C>G) c.513C>G (p.Asp171Glu) c.*715C>G (n.*715C>G) c.753C>G (p.Asp251Glu) c.*580C>G (n.*580C>G) | |
| 8 | g.43122619C>T | CA4736358 | POMK | c.795C>T (p.Asp265=) c.*591C>T (n.*591C>T) c.513C>T (p.Asp171=) c.*715C>T (n.*715C>T) c.753C>T (p.Asp251=) c.*580C>T (n.*580C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122619_43122620delinsCG | CA1779747743 | POMK | c.795_796delinsCG (p.Asp265=) c.*591_*592delinsCG (n.*591_*592delinsCG) c.513_514delinsCG (p.Asp171=) c.*715_*716delinsCG (n.*715_*716delinsCG) c.753_754delinsCG (p.Asp251=) c.*580_*581delinsCG (n.*580_*581delinsCG) | |
| 8 | g.43122620del | CA1113252712 | POMK | c.796del (p.Val266CysfsTer?) c.*592del (n.*592del) c.514del (p.Val172CysfsTer?) c.*716del (n.*716del) c.754del (p.Val252CysfsTer?) c.*581del (n.*581del) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.43122620G>A | CA4736359 | POMK | c.796G>A (p.Val266Met) c.*592G>A (n.*592G>A) c.514G>A (p.Val172Met) c.*716G>A (n.*716G>A) c.754G>A (p.Val252Met) c.*581G>A (n.*581G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122620G>C | CA371122683 | POMK | c.796G>C (p.Val266Leu) c.*592G>C (n.*592G>C) c.514G>C (p.Val172Leu) c.*716G>C (n.*716G>C) c.754G>C (p.Val252Leu) c.*581G>C (n.*581G>C) | |
| 8 | g.43122620G= | CA1779747746 | POMK | c.796G= (p.Val266=) c.*592G= (n.*592G=) c.514G= (p.Val172=) c.*716G= (n.*716G=) c.754G= (p.Val252=) c.*581G= (n.*581G=) | |
| 8 | g.43122620G>T | CA371122684 | POMK | c.796G>T (p.Val266Leu) c.*592G>T (n.*592G>T) c.514G>T (p.Val172Leu) c.*716G>T (n.*716G>T) c.754G>T (p.Val252Leu) c.*581G>T (n.*581G>T) | |
| 8 | g.43122621T>A | CA371122685 | POMK | c.797T>A (p.Val266Glu) c.*593T>A (n.*593T>A) c.515T>A (p.Val172Glu) c.*717T>A (n.*717T>A) c.755T>A (p.Val252Glu) c.*582T>A (n.*582T>A) | |
| 8 | g.43122621T>C | CA371122686 | POMK | c.797T>C (p.Val266Ala) c.*593T>C (n.*593T>C) c.515T>C (p.Val172Ala) c.*717T>C (n.*717T>C) c.755T>C (p.Val252Ala) c.*582T>C (n.*582T>C) | gnomAD v4 |
| 8 | g.43122621T>G | CA371122687 | POMK | c.797T>G (p.Val266Gly) c.*593T>G (n.*593T>G) c.515T>G (p.Val172Gly) c.*717T>G (n.*717T>G) c.755T>G (p.Val252Gly) c.*582T>G (n.*582T>G) | |
| 8 | g.43122622G>A | CA460787290 | POMK | c.798G>A (p.Val266=) c.*594G>A (n.*594G>A) c.516G>A (p.Val172=) c.*718G>A (n.*718G>A) c.756G>A (p.Val252=) c.*583G>A (n.*583G>A) | |
| 8 | g.43122622G>C | CA460787292 | POMK | c.798G>C (p.Val266=) c.*594G>C (n.*594G>C) c.516G>C (p.Val172=) c.*718G>C (n.*718G>C) c.756G>C (p.Val252=) c.*583G>C (n.*583G>C) | |
| 8 | g.43122622G= | CA1779747748 | POMK | c.798G= (p.Val266=) c.*594G= (n.*594G=) c.516G= (p.Val172=) c.*718G= (n.*718G=) c.756G= (p.Val252=) c.*583G= (n.*583G=) | |
| 8 | g.43122622G>T | CA460787291 | POMK | c.798G>T (p.Val266=) c.*594G>T (n.*594G>T) c.516G>T (p.Val172=) c.*718G>T (n.*718G>T) c.756G>T (p.Val252=) c.*583G>T (n.*583G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122623C>A | CA371122688 | POMK | c.799C>A (p.Pro267Thr) c.*595C>A (n.*595C>A) c.517C>A (p.Pro173Thr) c.*719C>A (n.*719C>A) c.757C>A (p.Pro253Thr) c.*584C>A (n.*584C>A) | gnomAD v4 |
| 8 | g.43122623C>G | CA371122689 | POMK | c.799C>G (p.Pro267Ala) c.*595C>G (n.*595C>G) c.517C>G (p.Pro173Ala) c.*719C>G (n.*719C>G) c.757C>G (p.Pro253Ala) c.*584C>G (n.*584C>G) | |
| 8 | g.43122623C>T | CA371122690 | POMK | c.799C>T (p.Pro267Ser) c.*595C>T (n.*595C>T) c.517C>T (p.Pro173Ser) c.*719C>T (n.*719C>T) c.757C>T (p.Pro253Ser) c.*584C>T (n.*584C>T) | ClinVar gnomAD v4 |
| 8 | g.43122624C>A | CA371122693 | POMK | c.800C>A (p.Pro267His) c.*596C>A (n.*596C>A) c.518C>A (p.Pro173His) c.*720C>A (n.*720C>A) c.758C>A (p.Pro253His) c.*585C>A (n.*585C>A) | |
| 8 | g.43122624C>G | CA371122691 | POMK | c.800C>G (p.Pro267Arg) c.*596C>G (n.*596C>G) c.518C>G (p.Pro173Arg) c.*720C>G (n.*720C>G) c.758C>G (p.Pro253Arg) c.*585C>G (n.*585C>G) | |
| 8 | g.43122624C>T | CA371122692 | POMK | c.800C>T (p.Pro267Leu) c.*596C>T (n.*596C>T) c.518C>T (p.Pro173Leu) c.*720C>T (n.*720C>T) c.758C>T (p.Pro253Leu) c.*585C>T (n.*585C>T) | |
| 8 | g.43122625T>A | CA460787296 | POMK | c.801T>A (p.Pro267=) c.*597T>A (n.*597T>A) c.519T>A (p.Pro173=) c.*721T>A (n.*721T>A) c.759T>A (p.Pro253=) c.*586T>A (n.*586T>A) | |
| 8 | g.43122625T>C | CA460787298 | POMK | c.801T>C (p.Pro267=) c.*597T>C (n.*597T>C) c.519T>C (p.Pro173=) c.*721T>C (n.*721T>C) c.759T>C (p.Pro253=) c.*586T>C (n.*586T>C) | |
| 8 | g.43122625T>G | CA460787300 | POMK | c.801T>G (p.Pro267=) c.*597T>G (n.*597T>G) c.519T>G (p.Pro173=) c.*721T>G (n.*721T>G) c.759T>G (p.Pro253=) c.*586T>G (n.*586T>G) | |
| 8 | g.43122627del | CA2579158817 | POMK | c.803del (p.Phe268SerfsTer?) c.*599del (n.*599del) c.521del (p.Phe174SerfsTer?) c.*723del (n.*723del) c.761del (p.Phe254SerfsTer?) c.*588del (n.*588del) | ClinVar |
| 8 | g.43122626T>A | CA371122694 | POMK | c.802T>A (p.Phe268Ile) c.*598T>A (n.*598T>A) c.520T>A (p.Phe174Ile) c.*722T>A (n.*722T>A) c.760T>A (p.Phe254Ile) c.*587T>A (n.*587T>A) | |
| 8 | g.43122626T>C | CA371122695 | POMK | c.802T>C (p.Phe268Leu) c.*598T>C (n.*598T>C) c.520T>C (p.Phe174Leu) c.*722T>C (n.*722T>C) c.760T>C (p.Phe254Leu) c.*587T>C (n.*587T>C) | |
| 8 | g.43122626T>G | CA371122696 | POMK | c.802T>G (p.Phe268Val) c.*598T>G (n.*598T>G) c.520T>G (p.Phe174Val) c.*722T>G (n.*722T>G) c.760T>G (p.Phe254Val) c.*587T>G (n.*587T>G) | |
| 8 | g.43122627T>A | CA371122697 | POMK | c.803T>A (p.Phe268Tyr) c.*599T>A (n.*599T>A) c.521T>A (p.Phe174Tyr) c.*723T>A (n.*723T>A) c.761T>A (p.Phe254Tyr) c.*588T>A (n.*588T>A) | |
| 8 | g.43122627T>C | CA371122698 | POMK | c.803T>C (p.Phe268Ser) c.*599T>C (n.*599T>C) c.521T>C (p.Phe174Ser) c.*723T>C (n.*723T>C) c.761T>C (p.Phe254Ser) c.*588T>C (n.*588T>C) | gnomAD v4 |
| 8 | g.43122627T>G | CA371122699 | POMK | c.803T>G (p.Phe268Cys) c.*599T>G (n.*599T>G) c.521T>G (p.Phe174Cys) c.*723T>G (n.*723T>G) c.761T>G (p.Phe254Cys) c.*588T>G (n.*588T>G) | |
| 8 | g.43122628C>A | CA371122700 | POMK | c.804C>A (p.Phe268Leu) c.*600C>A (n.*600C>A) c.522C>A (p.Phe174Leu) c.*724C>A (n.*724C>A) c.762C>A (p.Phe254Leu) c.*589C>A (n.*589C>A) | |
| 8 | g.43122628C>G | CA371122701 | POMK | c.804C>G (p.Phe268Leu) c.*600C>G (n.*600C>G) c.522C>G (p.Phe174Leu) c.*724C>G (n.*724C>G) c.762C>G (p.Phe254Leu) c.*589C>G (n.*589C>G) | |
| 8 | g.43122628C>T | CA460787306 | POMK | c.804C>T (p.Phe268=) c.*600C>T (n.*600C>T) c.522C>T (p.Phe174=) c.*724C>T (n.*724C>T) c.762C>T (p.Phe254=) c.*589C>T (n.*589C>T) | ClinVar gnomAD v4 |
| 8 | g.43122629C>A | CA371122702 | POMK | c.805C>A (p.His269Asn) c.*601C>A (n.*601C>A) c.523C>A (p.His175Asn) c.*725C>A (n.*725C>A) c.763C>A (p.His255Asn) c.*590C>A (n.*590C>A) | |
| 8 | g.43122629C>G | CA371122703 | POMK | c.805C>G (p.His269Asp) c.*601C>G (n.*601C>G) c.523C>G (p.His175Asp) c.*725C>G (n.*725C>G) c.763C>G (p.His255Asp) c.*590C>G (n.*590C>G) | gnomAD v4 |
| 8 | g.43122629C>T | CA371122704 | POMK | c.805C>T (p.His269Tyr) c.*601C>T (n.*601C>T) c.523C>T (p.His175Tyr) c.*725C>T (n.*725C>T) c.763C>T (p.His255Tyr) c.*590C>T (n.*590C>T) | |
| 8 | g.43122630A= | CA1779747751 | POMK | c.806A= (p.His269=) c.*602A= (n.*602A=) c.524A= (p.His175=) c.*726A= (n.*726A=) c.764A= (p.His255=) c.*591A= (n.*591A=) | |
| 8 | g.43122630A>C | CA371122707 | POMK | c.806A>C (p.His269Pro) c.*602A>C (n.*602A>C) c.524A>C (p.His175Pro) c.*726A>C (n.*726A>C) c.764A>C (p.His255Pro) c.*591A>C (n.*591A>C) | |
| 8 | g.43122630A>G | CA371122706 | POMK | c.806A>G (p.His269Arg) c.*602A>G (n.*602A>G) c.524A>G (p.His175Arg) c.*726A>G (n.*726A>G) c.764A>G (p.His255Arg) c.*591A>G (n.*591A>G) | dbSNP |
| 8 | g.43122630A>T | CA371122705 | POMK | c.806A>T (p.His269Leu) c.*602A>T (n.*602A>T) c.524A>T (p.His175Leu) c.*726A>T (n.*726A>T) c.764A>T (p.His255Leu) c.*591A>T (n.*591A>T) | |
| 8 | g.43122631C>A | CA371122708 | POMK | c.807C>A (p.His269Gln) c.*603C>A (n.*603C>A) c.525C>A (p.His175Gln) c.*727C>A (n.*727C>A) c.765C>A (p.His255Gln) c.*592C>A (n.*592C>A) | |
| 8 | g.43122631C= | CA1779747754 | POMK | c.807C= (p.His269=) c.*603C= (n.*603C=) c.525C= (p.His175=) c.*727C= (n.*727C=) c.765C= (p.His255=) c.*592C= (n.*592C=) | |
| 8 | g.43122631C>G | CA371122709 | POMK | c.807C>G (p.His269Gln) c.*603C>G (n.*603C>G) c.525C>G (p.His175Gln) c.*727C>G (n.*727C>G) c.765C>G (p.His255Gln) c.*592C>G (n.*592C>G) | |
| 8 | g.43122631C>T | CA4736360 | POMK | c.807C>T (p.His269=) c.*603C>T (n.*603C>T) c.525C>T (p.His175=) c.*727C>T (n.*727C>T) c.765C>T (p.His255=) c.*592C>T (n.*592C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 8 | g.43122632G>A | CA371122710 | POMK | c.808G>A (p.Asp270Asn) c.*604G>A (n.*604G>A) c.526G>A (p.Asp176Asn) c.*728G>A (n.*728G>A) c.766G>A (p.Asp256Asn) c.*593G>A (n.*593G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.43122632G>C | CA371122712 | POMK | c.808G>C (p.Asp270His) c.*604G>C (n.*604G>C) c.526G>C (p.Asp176His) c.*728G>C (n.*728G>C) c.766G>C (p.Asp256His) c.*593G>C (n.*593G>C) | ClinVar |
| 8 | g.43122632G= | CA1779747760 | POMK | c.808G= (p.Asp270=) c.*604G= (n.*604G=) c.526G= (p.Asp176=) c.*728G= (n.*728G=) c.766G= (p.Asp256=) c.*593G= (n.*593G=) | |
| 8 | g.43122632G>T | CA371122711 | POMK | c.808G>T (p.Asp270Tyr) c.*604G>T (n.*604G>T) c.526G>T (p.Asp176Tyr) c.*728G>T (n.*728G>T) c.766G>T (p.Asp256Tyr) c.*593G>T (n.*593G>T) | |
| 8 | g.43122633A>C | CA371122713 | POMK | c.809A>C (p.Asp270Ala) c.*605A>C (n.*605A>C) c.527A>C (p.Asp176Ala) c.*729A>C (n.*729A>C) c.767A>C (p.Asp256Ala) c.*594A>C (n.*594A>C) | |
| 8 | g.43122633A>G | CA371122714 | POMK | c.809A>G (p.Asp270Gly) c.*605A>G (n.*605A>G) c.527A>G (p.Asp176Gly) c.*729A>G (n.*729A>G) c.767A>G (p.Asp256Gly) c.*594A>G (n.*594A>G) | gnomAD v4 |
| 8 | g.43122633A>T | CA371122715 | POMK | c.809A>T (p.Asp270Val) c.*605A>T (n.*605A>T) c.527A>T (p.Asp176Val) c.*729A>T (n.*729A>T) c.767A>T (p.Asp256Val) c.*594A>T (n.*594A>T) | |
| 8 | g.43122634T>A | CA371122716 | POMK | c.810T>A (p.Asp270Glu) c.*606T>A (n.*606T>A) c.528T>A (p.Asp176Glu) c.*730T>A (n.*730T>A) c.768T>A (p.Asp256Glu) c.*595T>A (n.*595T>A) | |
| 8 | g.43122634T>C | CA460787310 | POMK | c.810T>C (p.Asp270=) c.*606T>C (n.*606T>C) c.528T>C (p.Asp176=) c.*730T>C (n.*730T>C) c.768T>C (p.Asp256=) c.*595T>C (n.*595T>C) | |
| 8 | g.43122634T>G | CA371122717 | POMK | c.810T>G (p.Asp270Glu) c.*606T>G (n.*606T>G) c.528T>G (p.Asp176Glu) c.*730T>G (n.*730T>G) c.768T>G (p.Asp256Glu) c.*595T>G (n.*595T>G) | |
| 8 | g.43122635G>A | CA371122718 | POMK | c.811G>A (p.Asp271Asn) c.*607G>A (n.*607G>A) c.529G>A (p.Asp177Asn) c.*731G>A (n.*731G>A) c.769G>A (p.Asp257Asn) c.*596G>A (n.*596G>A) | |
| 8 | g.43122635G>C | CA371122719 | POMK | c.811G>C (p.Asp271His) c.*607G>C (n.*607G>C) c.529G>C (p.Asp177His) c.*731G>C (n.*731G>C) c.769G>C (p.Asp257His) c.*596G>C (n.*596G>C) | |
| 8 | g.43122635G>T | CA371122720 | POMK | c.811G>T (p.Asp271Tyr) c.*607G>T (n.*607G>T) c.529G>T (p.Asp177Tyr) c.*731G>T (n.*731G>T) c.769G>T (p.Asp257Tyr) c.*596G>T (n.*596G>T) | |
| 8 | g.43122636A= | CA1779747762 | POMK | c.812A= (p.Asp271=) c.*608A= (n.*608A=) c.530A= (p.Asp177=) c.*732A= (n.*732A=) c.770A= (p.Asp257=) c.*597A= (n.*597A=) | |
| 8 | g.43122636A>C | CA371122721 | POMK | c.812A>C (p.Asp271Ala) c.*608A>C (n.*608A>C) c.530A>C (p.Asp177Ala) c.*732A>C (n.*732A>C) c.770A>C (p.Asp257Ala) c.*597A>C (n.*597A>C) | |
| 8 | g.43122636A>G | CA371122722 | POMK | c.812A>G (p.Asp271Gly) c.*608A>G (n.*608A>G) c.530A>G (p.Asp177Gly) c.*732A>G (n.*732A>G) c.770A>G (p.Asp257Gly) c.*597A>G (n.*597A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122636A>T | CA371122723 | POMK | c.812A>T (p.Asp271Val) c.*608A>T (n.*608A>T) c.530A>T (p.Asp177Val) c.*732A>T (n.*732A>T) c.770A>T (p.Asp257Val) c.*597A>T (n.*597A>T) | |
| 8 | g.43122637T>A | CA371122724 | POMK | c.813T>A (p.Asp271Glu) c.*609T>A (n.*609T>A) c.531T>A (p.Asp177Glu) c.*733T>A (n.*733T>A) c.771T>A (p.Asp257Glu) c.*598T>A (n.*598T>A) | |
| 8 | g.43122637T>C | CA460787311 | POMK | c.813T>C (p.Asp271=) c.*609T>C (n.*609T>C) c.531T>C (p.Asp177=) c.*733T>C (n.*733T>C) c.771T>C (p.Asp257=) c.*598T>C (n.*598T>C) | |
| 8 | g.43122637T>G | CA371122725 | POMK | c.813T>G (p.Asp271Glu) c.*609T>G (n.*609T>G) c.531T>G (p.Asp177Glu) c.*733T>G (n.*733T>G) c.771T>G (p.Asp257Glu) c.*598T>G (n.*598T>G) | |
| 8 | g.43122638C>A | CA371122728 | POMK | c.814C>A (p.Leu272Ile) c.*610C>A (n.*610C>A) c.532C>A (p.Leu178Ile) c.*734C>A (n.*734C>A) c.772C>A (p.Leu258Ile) c.*599C>A (n.*599C>A) | |
| 8 | g.43122638C= | CA1779747769 | POMK | c.814C= (p.Leu272=) c.*610C= (n.*610C=) c.532C= (p.Leu178=) c.*734C= (n.*734C=) c.772C= (p.Leu258=) c.*599C= (n.*599C=) | |
| 8 | g.43122638C>G | CA371122726 | POMK | c.814C>G (p.Leu272Val) c.*610C>G (n.*610C>G) c.532C>G (p.Leu178Val) c.*734C>G (n.*734C>G) c.772C>G (p.Leu258Val) c.*599C>G (n.*599C>G) | dbSNP gnomAD v4 |
| 8 | g.43122638C>T | CA371122727 | POMK | c.814C>T (p.Leu272Phe) c.*610C>T (n.*610C>T) c.532C>T (p.Leu178Phe) c.*734C>T (n.*734C>T) c.772C>T (p.Leu258Phe) c.*599C>T (n.*599C>T) | |
| 8 | g.43122639T>A | CA371122729 | POMK | c.815T>A (p.Leu272His) c.*611T>A (n.*611T>A) c.533T>A (p.Leu178His) c.*735T>A (n.*735T>A) c.773T>A (p.Leu258His) c.*600T>A (n.*600T>A) | gnomAD v4 |
| 8 | g.43122639T>C | CA371122730 | POMK | c.815T>C (p.Leu272Pro) c.*611T>C (n.*611T>C) c.533T>C (p.Leu178Pro) c.*735T>C (n.*735T>C) c.773T>C (p.Leu258Pro) c.*600T>C (n.*600T>C) | |
| 8 | g.43122639T>G | CA371122731 | POMK | c.815T>G (p.Leu272Arg) c.*611T>G (n.*611T>G) c.533T>G (p.Leu178Arg) c.*735T>G (n.*735T>G) c.773T>G (p.Leu258Arg) c.*600T>G (n.*600T>G) | |
| 8 | g.43122640C>A | CA460787315 | POMK | c.816C>A (p.Leu272=) c.*612C>A (n.*612C>A) c.534C>A (p.Leu178=) c.*736C>A (n.*736C>A) c.774C>A (p.Leu258=) c.*601C>A (n.*601C>A) | |
| 8 | g.43122640C>G | CA460787316 | POMK | c.816C>G (p.Leu272=) c.*612C>G (n.*612C>G) c.534C>G (p.Leu178=) c.*736C>G (n.*736C>G) c.774C>G (p.Leu258=) c.*601C>G (n.*601C>G) | |
| 8 | g.43122640C>T | CA460787318 | POMK | c.816C>T (p.Leu272=) c.*612C>T (n.*612C>T) c.534C>T (p.Leu178=) c.*736C>T (n.*736C>T) c.774C>T (p.Leu258=) c.*601C>T (n.*601C>T) | |
| 8 | g.43122641A= | CA1779747773 | POMK | c.817A= (p.Met273=) c.*613A= (n.*613A=) c.535A= (p.Met179=) c.*737A= (n.*737A=) c.775A= (p.Met259=) c.*602A= (n.*602A=) | |
| 8 | g.43122641A>C | CA371122732 | POMK | c.817A>C (p.Met273Leu) c.*613A>C (n.*613A>C) c.535A>C (p.Met179Leu) c.*737A>C (n.*737A>C) c.775A>C (p.Met259Leu) c.*602A>C (n.*602A>C) | dbSNP gnomAD v4 |
| 8 | g.43122641A>G | CA371122733 | POMK | c.817A>G (p.Met273Val) c.*613A>G (n.*613A>G) c.535A>G (p.Met179Val) c.*737A>G (n.*737A>G) c.775A>G (p.Met259Val) c.*602A>G (n.*602A>G) | gnomAD v4 |
| 8 | g.43122641A>T | CA371122734 | POMK | c.817A>T (p.Met273Leu) c.*613A>T (n.*613A>T) c.535A>T (p.Met179Leu) c.*737A>T (n.*737A>T) c.775A>T (p.Met259Leu) c.*602A>T (n.*602A>T) | ClinVar dbSNP |
| 8 | g.43122642T>A | CA371122735 | POMK | c.818T>A (p.Met273Lys) c.*614T>A (n.*614T>A) c.536T>A (p.Met179Lys) c.*738T>A (n.*738T>A) c.776T>A (p.Met259Lys) c.*603T>A (n.*603T>A) | |
| 8 | g.43122642T>C | CA371122736 | POMK | c.818T>C (p.Met273Thr) c.*614T>C (n.*614T>C) c.536T>C (p.Met179Thr) c.*738T>C (n.*738T>C) c.776T>C (p.Met259Thr) c.*603T>C (n.*603T>C) | |
| 8 | g.43122642T>G | CA371122737 | POMK | c.818T>G (p.Met273Arg) c.*614T>G (n.*614T>G) c.536T>G (p.Met179Arg) c.*738T>G (n.*738T>G) c.776T>G (p.Met259Arg) c.*603T>G (n.*603T>G) | |
| 8 | g.43122643G>A | CA371122738 | POMK | c.819G>A (p.Met273Ile) c.*615G>A (n.*615G>A) c.537G>A (p.Met179Ile) c.*739G>A (n.*739G>A) c.777G>A (p.Met259Ile) c.*604G>A (n.*604G>A) | gnomAD v4 |
| 8 | g.43122643G>C | CA371122739 | POMK | c.819G>C (p.Met273Ile) c.*615G>C (n.*615G>C) c.537G>C (p.Met179Ile) c.*739G>C (n.*739G>C) c.777G>C (p.Met259Ile) c.*604G>C (n.*604G>C) | |
| 8 | g.43122643G>T | CA371122740 | POMK | c.819G>T (p.Met273Ile) c.*615G>T (n.*615G>T) c.537G>T (p.Met179Ile) c.*739G>T (n.*739G>T) c.777G>T (p.Met259Ile) c.*604G>T (n.*604G>T) | |
| 8 | g.43122644C>A | CA371122741 | POMK | c.820C>A (p.Pro274Thr) c.*616C>A (n.*616C>A) c.538C>A (p.Pro180Thr) c.*740C>A (n.*740C>A) c.778C>A (p.Pro260Thr) c.*605C>A (n.*605C>A) | |
| 8 | g.43122644C= | CA1779747776 | POMK | c.820C= (p.Pro274=) c.*616C= (n.*616C=) c.538C= (p.Pro180=) c.*740C= (n.*740C=) c.778C= (p.Pro260=) c.*605C= (n.*605C=) | |
| 8 | g.43122644C>G | CA371122742 | POMK | c.820C>G (p.Pro274Ala) c.*616C>G (n.*616C>G) c.538C>G (p.Pro180Ala) c.*740C>G (n.*740C>G) c.778C>G (p.Pro260Ala) c.*605C>G (n.*605C>G) | |
| 8 | g.43122644C>T | CA176080596 | POMK | c.820C>T (p.Pro274Ser) c.*616C>T (n.*616C>T) c.538C>T (p.Pro180Ser) c.*740C>T (n.*740C>T) c.778C>T (p.Pro260Ser) c.*605C>T (n.*605C>T) | dbSNP |
| 8 | g.43122645C>A | CA371122743 | POMK | c.821C>A (p.Pro274His) c.*617C>A (n.*617C>A) c.539C>A (p.Pro180His) c.*741C>A (n.*741C>A) c.779C>A (p.Pro260His) c.*606C>A (n.*606C>A) | gnomAD v4 |
| 8 | g.43122645C>G | CA371122744 | POMK | c.821C>G (p.Pro274Arg) c.*617C>G (n.*617C>G) c.539C>G (p.Pro180Arg) c.*741C>G (n.*741C>G) c.779C>G (p.Pro260Arg) c.*606C>G (n.*606C>G) | |
| 8 | g.43122645C>T | CA371122745 | POMK | c.821C>T (p.Pro274Leu) c.*617C>T (n.*617C>T) c.539C>T (p.Pro180Leu) c.*741C>T (n.*741C>T) c.779C>T (p.Pro260Leu) c.*606C>T (n.*606C>T) | gnomAD v4 |
| 8 | g.43122646C>A | CA460787321 | POMK | c.822C>A (p.Pro274=) c.*618C>A (n.*618C>A) c.540C>A (p.Pro180=) c.*742C>A (n.*742C>A) c.780C>A (p.Pro260=) c.*607C>A (n.*607C>A) | |
| 8 | g.43122646C= | CA1779747780 | POMK | c.822C= (p.Pro274=) c.*618C= (n.*618C=) c.540C= (p.Pro180=) c.*742C= (n.*742C=) c.780C= (p.Pro260=) c.*607C= (n.*607C=) | |
| 8 | g.43122646C>G | CA460787322 | POMK | c.822C>G (p.Pro274=) c.*618C>G (n.*618C>G) c.540C>G (p.Pro180=) c.*742C>G (n.*742C>G) c.780C>G (p.Pro260=) c.*607C>G (n.*607C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.43122646C>T | CA460787323 | POMK | c.822C>T (p.Pro274=) c.*618C>T (n.*618C>T) c.540C>T (p.Pro180=) c.*742C>T (n.*742C>T) c.780C>T (p.Pro260=) c.*607C>T (n.*607C>T) | ClinVar |
| 8 | g.43122647T>A | CA371122746 | POMK | c.823T>A (p.Ser275Thr) c.*619T>A (n.*619T>A) c.541T>A (p.Ser181Thr) c.*743T>A (n.*743T>A) c.781T>A (p.Ser261Thr) c.*608T>A (n.*608T>A) | |
| 8 | g.43122647T>C | CA371122747 | POMK | c.823T>C (p.Ser275Pro) c.*619T>C (n.*619T>C) c.541T>C (p.Ser181Pro) c.*743T>C (n.*743T>C) c.781T>C (p.Ser261Pro) c.*608T>C (n.*608T>C) | gnomAD v4 |
| 8 | g.43122647T>G | CA371122748 | POMK | c.823T>G (p.Ser275Ala) c.*619T>G (n.*619T>G) c.541T>G (p.Ser181Ala) c.*743T>G (n.*743T>G) c.781T>G (p.Ser261Ala) c.*608T>G (n.*608T>G) | |
| 8 | g.43122647_43122652del | CA2779904289 | POMK | c.823_828del (p.Ser275_Tyr276del) c.*619_*624del (n.*619_*624del) c.541_546del (p.Ser181_Tyr182del) c.*743_*748del (n.*743_*748del) c.781_786del (p.Ser261_Tyr262del) c.*608_*613del (n.*608_*613del) | |
| 8 | g.43122648C>A | CA371122749 | POMK | c.824C>A (p.Ser275Ter) c.*620C>A (n.*620C>A) c.542C>A (p.Ser181Ter) c.*744C>A (n.*744C>A) c.782C>A (p.Ser261Ter) c.*609C>A (n.*609C>A) | |
| 8 | g.43122648C>G | CA371122750 | POMK | c.824C>G (p.Ser275Ter) c.*620C>G (n.*620C>G) c.542C>G (p.Ser181Ter) c.*744C>G (n.*744C>G) c.782C>G (p.Ser261Ter) c.*609C>G (n.*609C>G) | |
| 8 | g.43122648C>T | CA371122751 | POMK | c.824C>T (p.Ser275Leu) c.*620C>T (n.*620C>T) c.542C>T (p.Ser181Leu) c.*744C>T (n.*744C>T) c.782C>T (p.Ser261Leu) c.*609C>T (n.*609C>T) | |
| 8 | g.43122649A= | CA1779747784 | POMK | c.825A= (p.Ser275=) c.*621A= (n.*621A=) c.543A= (p.Ser181=) c.*745A= (n.*745A=) c.783A= (p.Ser261=) c.*610A= (n.*610A=) | |
| 8 | g.43122649A>C | CA460787324 | POMK | c.825A>C (p.Ser275=) c.*621A>C (n.*621A>C) c.543A>C (p.Ser181=) c.*745A>C (n.*745A>C) c.783A>C (p.Ser261=) c.*610A>C (n.*610A>C) | dbSNP gnomAD v2 |
| 8 | g.43122649A>G | CA460787325 | POMK | c.825A>G (p.Ser275=) c.*621A>G (n.*621A>G) c.543A>G (p.Ser181=) c.*745A>G (n.*745A>G) c.783A>G (p.Ser261=) c.*610A>G (n.*610A>G) | gnomAD v4 |
| 8 | g.43122649A>T | CA460787327 | POMK | c.825A>T (p.Ser275=) c.*621A>T (n.*621A>T) c.543A>T (p.Ser181=) c.*745A>T (n.*745A>T) c.783A>T (p.Ser261=) c.*610A>T (n.*610A>T) | ClinVar |
| 8 | g.43122650T>A | CA371122752 | POMK | c.826T>A (p.Tyr276Asn) c.*622T>A (n.*622T>A) c.544T>A (p.Tyr182Asn) c.*746T>A (n.*746T>A) c.784T>A (p.Tyr262Asn) c.*611T>A (n.*611T>A) | |
| 8 | g.43122650T>C | CA371122753 | POMK | c.826T>C (p.Tyr276His) c.*622T>C (n.*622T>C) c.544T>C (p.Tyr182His) c.*746T>C (n.*746T>C) c.784T>C (p.Tyr262His) c.*611T>C (n.*611T>C) | |
| 8 | g.43122650T>G | CA371122754 | POMK | c.826T>G (p.Tyr276Asp) c.*622T>G (n.*622T>G) c.544T>G (p.Tyr182Asp) c.*746T>G (n.*746T>G) c.784T>G (p.Tyr262Asp) c.*611T>G (n.*611T>G) | gnomAD v4 |
| 8 | g.43122651A= | CA1779747790 | POMK | c.827A= (p.Tyr276=) c.*623A= (n.*623A=) c.545A= (p.Tyr182=) c.*747A= (n.*747A=) c.785A= (p.Tyr262=) c.*612A= (n.*612A=) | |
| 8 | g.43122651A>C | CA371122755 | POMK | c.827A>C (p.Tyr276Ser) c.*623A>C (n.*623A>C) c.545A>C (p.Tyr182Ser) c.*747A>C (n.*747A>C) c.785A>C (p.Tyr262Ser) c.*612A>C (n.*612A>C) | |
| 8 | g.43122651A>G | CA371122757 | POMK | c.827A>G (p.Tyr276Cys) c.*623A>G (n.*623A>G) c.545A>G (p.Tyr182Cys) c.*747A>G (n.*747A>G) c.785A>G (p.Tyr262Cys) c.*612A>G (n.*612A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.43122651A>T | CA371122756 | POMK | c.827A>T (p.Tyr276Phe) c.*623A>T (n.*623A>T) c.545A>T (p.Tyr182Phe) c.*747A>T (n.*747A>T) c.785A>T (p.Tyr262Phe) c.*612A>T (n.*612A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.43122652T>A | CA371122758 | POMK | c.828T>A (p.Tyr276Ter) c.*624T>A (n.*624T>A) c.546T>A (p.Tyr182Ter) c.*748T>A (n.*748T>A) c.786T>A (p.Tyr262Ter) c.*613T>A (n.*613T>A) | |
| 8 | g.43122652T>C | CA460787334 | POMK | c.828T>C (p.Tyr276=) c.*624T>C (n.*624T>C) c.546T>C (p.Tyr182=) c.*748T>C (n.*748T>C) c.786T>C (p.Tyr262=) c.*613T>C (n.*613T>C) | |
| 8 | g.43122652T>G | CA371122759 | POMK | c.828T>G (p.Tyr276Ter) c.*624T>G (n.*624T>G) c.546T>G (p.Tyr182Ter) c.*748T>G (n.*748T>G) c.786T>G (p.Tyr262Ter) c.*613T>G (n.*613T>G) | |
| 8 | g.43122653G>A | CA371122760 | POMK | c.829G>A (p.Asp277Asn) c.*625G>A (n.*625G>A) c.547G>A (p.Asp183Asn) c.*749G>A (n.*749G>A) c.787G>A (p.Asp263Asn) c.*614G>A (n.*614G>A) | |
| 8 | g.43122653G>C | CA371122761 | POMK | c.829G>C (p.Asp277His) c.*625G>C (n.*625G>C) c.547G>C (p.Asp183His) c.*749G>C (n.*749G>C) c.787G>C (p.Asp263His) c.*614G>C (n.*614G>C) | |
| 8 | g.43122653G>T | CA371122762 | POMK | c.829G>T (p.Asp277Tyr) c.*625G>T (n.*625G>T) c.547G>T (p.Asp183Tyr) c.*749G>T (n.*749G>T) c.787G>T (p.Asp263Tyr) c.*614G>T (n.*614G>T) | |
| 8 | g.43122654A= | CA1779747793 | POMK | c.830A= (p.Asp277=) c.*626A= (n.*626A=) c.548A= (p.Asp183=) c.*750A= (n.*750A=) c.788A= (p.Asp263=) c.*615A= (n.*615A=) | |
| 8 | g.43122654A>C | CA371122763 | POMK | c.830A>C (p.Asp277Ala) c.*626A>C (n.*626A>C) c.548A>C (p.Asp183Ala) c.*750A>C (n.*750A>C) c.788A>C (p.Asp263Ala) c.*615A>C (n.*615A>C) | |
| 8 | g.43122654A>G | CA371122764 | POMK | c.830A>G (p.Asp277Gly) c.*626A>G (n.*626A>G) c.548A>G (p.Asp183Gly) c.*750A>G (n.*750A>G) c.788A>G (p.Asp263Gly) c.*615A>G (n.*615A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.43122654A>T | CA371122765 | POMK | c.830A>T (p.Asp277Val) c.*626A>T (n.*626A>T) c.548A>T (p.Asp183Val) c.*750A>T (n.*750A>T) c.788A>T (p.Asp263Val) c.*615A>T (n.*615A>T) | |
| 8 | g.43122655T>A | CA371122766 | POMK | c.831T>A (p.Asp277Glu) c.*627T>A (n.*627T>A) c.549T>A (p.Asp183Glu) c.*751T>A (n.*751T>A) c.789T>A (p.Asp263Glu) c.*616T>A (n.*616T>A) | |
| 8 | g.43122655T>C | CA460787337 | POMK | c.831T>C (p.Asp277=) c.*627T>C (n.*627T>C) c.549T>C (p.Asp183=) c.*751T>C (n.*751T>C) c.789T>C (p.Asp263=) c.*616T>C (n.*616T>C) | |
| 8 | g.43122655T>G | CA371122767 | POMK | c.831T>G (p.Asp277Glu) c.*627T>G (n.*627T>G) c.549T>G (p.Asp183Glu) c.*751T>G (n.*751T>G) c.789T>G (p.Asp263Glu) c.*616T>G (n.*616T>G) | gnomAD v4 |