Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.43122702_43122715delinsTGGGGCACATTGAA | CA1779747862 | POMK | c.878_891delinsTGGGGCACATTGAA (p.Leu293=) c.*674_*687delinsTGGGGCACATTGAA (n.*674_*687delinsTGGGGCACATTGAA) c.596_609delinsTGGGGCACATTGAA (p.Leu199=) c.*798_*811delinsTGGGGCACATTGAA (n.*798_*811delinsTGGGGCACATTGAA) c.836_849delinsTGGGGCACATTGAA (p.Leu279=) c.*663_*676delinsTGGGGCACATTGAA (n.*663_*676delinsTGGGGCACATTGAA) | |
8 | g.43122706del | CA2687148571 | POMK | c.882del (p.His295ThrfsTer?) c.*678del (n.*678del) c.600del (p.His201ThrfsTer?) c.*802del (n.*802del) c.840del (p.His281ThrfsTer?) c.*667del (n.*667del) | gnomAD v4 |
8 | g.43122706_43122718del | CA1113252749 | POMK | c.882_894del (p.His295ValfsTer?) c.*678_*690del (n.*678_*690del) c.600_612del (p.His201ValfsTer?) c.*802_*814del (n.*802_*814del) c.840_852del (p.His281ValfsTer?) c.*667_*679del (n.*667_*679del) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.43122706G>A | CA4736370 | POMK | c.882G>A (p.Gly294=) c.*678G>A (n.*678G>A) c.600G>A (p.Gly200=) c.*802G>A (n.*802G>A) c.840G>A (p.Gly280=) c.*667G>A (n.*667G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43122706G>C | CA460787400 | POMK | c.882G>C (p.Gly294=) c.*678G>C (n.*678G>C) c.600G>C (p.Gly200=) c.*802G>C (n.*802G>C) c.840G>C (p.Gly280=) c.*667G>C (n.*667G>C) | |
8 | g.43122706G= | CA1779747870 | POMK | c.882G= (p.Gly294=) c.*678G= (n.*678G=) c.600G= (p.Gly200=) c.*802G= (n.*802G=) c.840G= (p.Gly280=) c.*667G= (n.*667G=) | |
8 | g.43122706G>T | CA460787399 | POMK | c.882G>T (p.Gly294=) c.*678G>T (n.*678G>T) c.600G>T (p.Gly200=) c.*802G>T (n.*802G>T) c.840G>T (p.Gly280=) c.*667G>T (n.*667G>T) | |
8 | g.43122707C>A | CA371122885 | POMK | c.883C>A (p.His295Asn) c.*679C>A (n.*679C>A) c.601C>A (p.His201Asn) c.*803C>A (n.*803C>A) c.841C>A (p.His281Asn) c.*668C>A (n.*668C>A) | |
8 | g.43122707C= | CA1779747874 | POMK | c.883C= (p.His295=) c.*679C= (n.*679C=) c.601C= (p.His201=) c.*803C= (n.*803C=) c.841C= (p.His281=) c.*668C= (n.*668C=) | |
8 | g.43122707C>G | CA371122886 | POMK | c.883C>G (p.His295Asp) c.*679C>G (n.*679C>G) c.601C>G (p.His201Asp) c.*803C>G (n.*803C>G) c.841C>G (p.His281Asp) c.*668C>G (n.*668C>G) | gnomAD v4 |
8 | g.43122707C>T | CA371122884 | POMK | c.883C>T (p.His295Tyr) c.*679C>T (n.*679C>T) c.601C>T (p.His201Tyr) c.*803C>T (n.*803C>T) c.841C>T (p.His281Tyr) c.*668C>T (n.*668C>T) | ClinVar dbSNP gnomAD v4 |
8 | g.43122708A>C | CA371122887 | POMK | c.884A>C (p.His295Pro) c.*680A>C (n.*680A>C) c.602A>C (p.His201Pro) c.*804A>C (n.*804A>C) c.842A>C (p.His281Pro) c.*669A>C (n.*669A>C) | |
8 | g.43122708A>G | CA371122888 | POMK | c.884A>G (p.His295Arg) c.*680A>G (n.*680A>G) c.602A>G (p.His201Arg) c.*804A>G (n.*804A>G) c.842A>G (p.His281Arg) c.*669A>G (n.*669A>G) | |
8 | g.43122708A>T | CA371122889 | POMK | c.884A>T (p.His295Leu) c.*680A>T (n.*680A>T) c.602A>T (p.His201Leu) c.*804A>T (n.*804A>T) c.842A>T (p.His281Leu) c.*669A>T (n.*669A>T) | gnomAD v4 |
8 | g.43122709C>A | CA371122890 | POMK | c.885C>A (p.His295Gln) c.*681C>A (n.*681C>A) c.603C>A (p.His201Gln) c.*805C>A (n.*805C>A) c.843C>A (p.His281Gln) c.*670C>A (n.*670C>A) | |
8 | g.43122709C= | CA1779747880 | POMK | c.885C= (p.His295=) c.*681C= (n.*681C=) c.603C= (p.His201=) c.*805C= (n.*805C=) c.843C= (p.His281=) c.*670C= (n.*670C=) | |
8 | g.43122709C>G | CA371122891 | POMK | c.885C>G (p.His295Gln) c.*681C>G (n.*681C>G) c.603C>G (p.His201Gln) c.*805C>G (n.*805C>G) c.843C>G (p.His281Gln) c.*670C>G (n.*670C>G) | |
8 | g.43122709C>T | CA460787403 | POMK | c.885C>T (p.His295=) c.*681C>T (n.*681C>T) c.603C>T (p.His201=) c.*805C>T (n.*805C>T) c.843C>T (p.His281=) c.*670C>T (n.*670C>T) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.43122710A= | CA1779747885 | POMK | c.886A= (p.Ile296=) c.*682A= (n.*682A=) c.604A= (p.Ile202=) c.*806A= (n.*806A=) c.844A= (p.Ile282=) c.*671A= (n.*671A=) | |
8 | g.43122710A>C | CA371122892 | POMK | c.886A>C (p.Ile296Leu) c.*682A>C (n.*682A>C) c.604A>C (p.Ile202Leu) c.*806A>C (n.*806A>C) c.844A>C (p.Ile282Leu) c.*671A>C (n.*671A>C) | |
8 | g.43122710A>G | CA4736371 | POMK | c.886A>G (p.Ile296Val) c.*682A>G (n.*682A>G) c.604A>G (p.Ile202Val) c.*806A>G (n.*806A>G) c.844A>G (p.Ile282Val) c.*671A>G (n.*671A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43122710A>T | CA371122893 | POMK | c.886A>T (p.Ile296Phe) c.*682A>T (n.*682A>T) c.604A>T (p.Ile202Phe) c.*806A>T (n.*806A>T) c.844A>T (p.Ile282Phe) c.*671A>T (n.*671A>T) | |
8 | g.43122712_43122724del | CA2687148572 | POMK | c.888_900del (p.Glu297TrpfsTer?) c.*684_*696del (n.*684_*696del) c.606_618del (p.Glu203TrpfsTer?) c.*808_*820del (n.*808_*820del) c.846_858del (p.Glu283TrpfsTer?) c.*673_*685del (n.*673_*685del) | gnomAD v4 |
8 | g.43122711T>A | CA176080688 | POMK | c.887T>A (p.Ile296Asn) c.*683T>A (n.*683T>A) c.605T>A (p.Ile202Asn) c.*807T>A (n.*807T>A) c.845T>A (p.Ile282Asn) c.*672T>A (n.*672T>A) | dbSNP gnomAD v4 |
8 | g.43122711T>C | CA4736372 | POMK | c.887T>C (p.Ile296Thr) c.*683T>C (n.*683T>C) c.605T>C (p.Ile202Thr) c.*807T>C (n.*807T>C) c.845T>C (p.Ile282Thr) c.*672T>C (n.*672T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43122711T>G | CA371122894 | POMK | c.887T>G (p.Ile296Ser) c.*683T>G (n.*683T>G) c.605T>G (p.Ile202Ser) c.*807T>G (n.*807T>G) c.845T>G (p.Ile282Ser) c.*672T>G (n.*672T>G) | |
8 | g.43122711T= | CA1779747888 | POMK | c.887T= (p.Ile296=) c.*683T= (n.*683T=) c.605T= (p.Ile202=) c.*807T= (n.*807T=) c.845T= (p.Ile282=) c.*672T= (n.*672T=) | |
8 | g.43122712T>A | CA460787406 | POMK | c.888T>A (p.Ile296=) c.*684T>A (n.*684T>A) c.606T>A (p.Ile202=) c.*808T>A (n.*808T>A) c.846T>A (p.Ile282=) c.*673T>A (n.*673T>A) | |
8 | g.43122712T>C | CA460787407 | POMK | c.888T>C (p.Ile296=) c.*684T>C (n.*684T>C) c.606T>C (p.Ile202=) c.*808T>C (n.*808T>C) c.846T>C (p.Ile282=) c.*673T>C (n.*673T>C) | |
8 | g.43122712T>G | CA371122895 | POMK | c.888T>G (p.Ile296Met) c.*684T>G (n.*684T>G) c.606T>G (p.Ile202Met) c.*808T>G (n.*808T>G) c.846T>G (p.Ile282Met) c.*673T>G (n.*673T>G) | |
8 | g.43122713G>A | CA371122896 | POMK | c.889G>A (p.Glu297Lys) c.*685G>A (n.*685G>A) c.607G>A (p.Glu203Lys) c.*809G>A (n.*809G>A) c.847G>A (p.Glu283Lys) c.*674G>A (n.*674G>A) | COSMIC COSMIC |
8 | g.43122713G>C | CA371122897 | POMK | c.889G>C (p.Glu297Gln) c.*685G>C (n.*685G>C) c.607G>C (p.Glu203Gln) c.*809G>C (n.*809G>C) c.847G>C (p.Glu283Gln) c.*674G>C (n.*674G>C) | |
8 | g.43122713G= | CA1779747890 | POMK | c.889G= (p.Glu297=) c.*685G= (n.*685G=) c.607G= (p.Glu203=) c.*809G= (n.*809G=) c.847G= (p.Glu283=) c.*674G= (n.*674G=) | |
8 | g.43122713G>T | CA371122898 | POMK | c.889G>T (p.Glu297Ter) c.*685G>T (n.*685G>T) c.607G>T (p.Glu203Ter) c.*809G>T (n.*809G>T) c.847G>T (p.Glu283Ter) c.*674G>T (n.*674G>T) | |
8 | g.43122714A>C | CA371122899 | POMK | c.890A>C (p.Glu297Ala) c.*686A>C (n.*686A>C) c.608A>C (p.Glu203Ala) c.*810A>C (n.*810A>C) c.848A>C (p.Glu283Ala) c.*675A>C (n.*675A>C) | |
8 | g.43122714A>G | CA371122901 | POMK | c.890A>G (p.Glu297Gly) c.*686A>G (n.*686A>G) c.608A>G (p.Glu203Gly) c.*810A>G (n.*810A>G) c.848A>G (p.Glu283Gly) c.*675A>G (n.*675A>G) | |
8 | g.43122714A>T | CA371122900 | POMK | c.890A>T (p.Glu297Val) c.*686A>T (n.*686A>T) c.608A>T (p.Glu203Val) c.*810A>T (n.*810A>T) c.848A>T (p.Glu283Val) c.*675A>T (n.*675A>T) | |
8 | g.43122715dup | CA1779747891 | POMK | c.891dup (p.Gly298ArgfsTer3) c.*687dup (n.*687dup) c.609dup (p.Gly204ArgfsTer3) c.*811dup (n.*811dup) c.849dup (p.Gly284ArgfsTer3) c.*676dup (n.*676dup) | dbSNP |
8 | g.43122715A>C | CA371122902 | POMK | c.891A>C (p.Glu297Asp) c.*687A>C (n.*687A>C) c.609A>C (p.Glu203Asp) c.*811A>C (n.*811A>C) c.849A>C (p.Glu283Asp) c.*676A>C (n.*676A>C) | |
8 | g.43122715A>G | CA460787409 | POMK | c.891A>G (p.Glu297=) c.*687A>G (n.*687A>G) c.609A>G (p.Glu203=) c.*811A>G (n.*811A>G) c.849A>G (p.Glu283=) c.*676A>G (n.*676A>G) | |
8 | g.43122715A>T | CA371122903 | POMK | c.891A>T (p.Glu297Asp) c.*687A>T (n.*687A>T) c.609A>T (p.Glu203Asp) c.*811A>T (n.*811A>T) c.849A>T (p.Glu283Asp) c.*676A>T (n.*676A>T) | |
8 | g.43122716G>A | CA371122904 | POMK | c.892G>A (p.Gly298Arg) c.*688G>A (n.*688G>A) c.610G>A (p.Gly204Arg) c.*812G>A (n.*812G>A) c.850G>A (p.Gly284Arg) c.*677G>A (n.*677G>A) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.43122716G>C | CA371122905 | POMK | c.892G>C (p.Gly298Arg) c.*688G>C (n.*688G>C) c.610G>C (p.Gly204Arg) c.*812G>C (n.*812G>C) c.850G>C (p.Gly284Arg) c.*677G>C (n.*677G>C) | |
8 | g.43122716G= | CA1779747894 | POMK | c.892G= (p.Gly298=) c.*688G= (n.*688G=) c.610G= (p.Gly204=) c.*812G= (n.*812G=) c.850G= (p.Gly284=) c.*677G= (n.*677G=) | |
8 | g.43122716G>T | CA371122906 | POMK | c.892G>T (p.Gly298Trp) c.*688G>T (n.*688G>T) c.610G>T (p.Gly204Trp) c.*812G>T (n.*812G>T) c.850G>T (p.Gly284Trp) c.*677G>T (n.*677G>T) | |
8 | g.43122717G>A | CA371122907 | POMK | c.893G>A (p.Gly298Glu) c.*689G>A (n.*689G>A) c.611G>A (p.Gly204Glu) c.*813G>A (n.*813G>A) c.851G>A (p.Gly284Glu) c.*678G>A (n.*678G>A) | |
8 | g.43122717G>C | CA371122908 | POMK | c.893G>C (p.Gly298Ala) c.*689G>C (n.*689G>C) c.611G>C (p.Gly204Ala) c.*813G>C (n.*813G>C) c.851G>C (p.Gly284Ala) c.*678G>C (n.*678G>C) | |
8 | g.43122717G>T | CA371122909 | POMK | c.893G>T (p.Gly298Val) c.*689G>T (n.*689G>T) c.611G>T (p.Gly204Val) c.*813G>T (n.*813G>T) c.851G>T (p.Gly284Val) c.*678G>T (n.*678G>T) | |
8 | g.43122718G>A | CA460787410 | POMK | c.894G>A (p.Gly298=) c.*690G>A (n.*690G>A) c.612G>A (p.Gly204=) c.*814G>A (n.*814G>A) c.852G>A (p.Gly284=) c.*679G>A (n.*679G>A) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.43122718G>C | CA460787411 | POMK | c.894G>C (p.Gly298=) c.*690G>C (n.*690G>C) c.612G>C (p.Gly204=) c.*814G>C (n.*814G>C) c.852G>C (p.Gly284=) c.*679G>C (n.*679G>C) | |
8 | g.43122718G= | CA1779747897 | POMK | c.894G= (p.Gly298=) c.*690G= (n.*690G=) c.612G= (p.Gly204=) c.*814G= (n.*814G=) c.852G= (p.Gly284=) c.*679G= (n.*679G=) | |
8 | g.43122718G>T | CA460787412 | POMK | c.894G>T (p.Gly298=) c.*690G>T (n.*690G>T) c.612G>T (p.Gly204=) c.*814G>T (n.*814G>T) c.852G>T (p.Gly284=) c.*679G>T (n.*679G>T) | gnomAD v4 |
8 | g.43122719A>C | CA371122910 | POMK | c.895A>C (p.Ser299Arg) c.*691A>C (n.*691A>C) c.613A>C (p.Ser205Arg) c.*815A>C (n.*815A>C) c.853A>C (p.Ser285Arg) c.*680A>C (n.*680A>C) | gnomAD v4 |
8 | g.43122719A>G | CA371122911 | POMK | c.895A>G (p.Ser299Gly) c.*691A>G (n.*691A>G) c.613A>G (p.Ser205Gly) c.*815A>G (n.*815A>G) c.853A>G (p.Ser285Gly) c.*680A>G (n.*680A>G) | |
8 | g.43122719A>T | CA371122912 | POMK | c.895A>T (p.Ser299Cys) c.*691A>T (n.*691A>T) c.613A>T (p.Ser205Cys) c.*815A>T (n.*815A>T) c.853A>T (p.Ser285Cys) c.*680A>T (n.*680A>T) | |
8 | g.43122720G>A | CA371122913 | POMK | c.896G>A (p.Ser299Asn) c.*692G>A (n.*692G>A) c.614G>A (p.Ser205Asn) c.*816G>A (n.*816G>A) c.854G>A (p.Ser285Asn) c.*681G>A (n.*681G>A) | |
8 | g.43122720G>C | CA371122915 | POMK | c.896G>C (p.Ser299Thr) c.*692G>C (n.*692G>C) c.614G>C (p.Ser205Thr) c.*816G>C (n.*816G>C) c.854G>C (p.Ser285Thr) c.*681G>C (n.*681G>C) | |
8 | g.43122720G>T | CA371122914 | POMK | c.896G>T (p.Ser299Ile) c.*692G>T (n.*692G>T) c.614G>T (p.Ser205Ile) c.*816G>T (n.*816G>T) c.854G>T (p.Ser285Ile) c.*681G>T (n.*681G>T) | |
8 | g.43122721T>A | CA371122916 | POMK | c.897T>A (p.Ser299Arg) c.*693T>A (n.*693T>A) c.615T>A (p.Ser205Arg) c.*817T>A (n.*817T>A) c.855T>A (p.Ser285Arg) c.*682T>A (n.*682T>A) | |
8 | g.43122721T>C | CA460787415 | POMK | c.897T>C (p.Ser299=) c.*693T>C (n.*693T>C) c.615T>C (p.Ser205=) c.*817T>C (n.*817T>C) c.855T>C (p.Ser285=) c.*682T>C (n.*682T>C) | |
8 | g.43122721T>G | CA371122917 | POMK | c.897T>G (p.Ser299Arg) c.*693T>G (n.*693T>G) c.615T>G (p.Ser205Arg) c.*817T>G (n.*817T>G) c.855T>G (p.Ser285Arg) c.*682T>G (n.*682T>G) | |
8 | g.43122722G>A | CA371122918 | POMK | c.898G>A (p.Asp300Asn) c.*694G>A (n.*694G>A) c.616G>A (p.Asp206Asn) c.*818G>A (n.*818G>A) c.856G>A (p.Asp286Asn) c.*683G>A (n.*683G>A) | |
8 | g.43122722G>C | CA371122919 | POMK | c.898G>C (p.Asp300His) c.*694G>C (n.*694G>C) c.616G>C (p.Asp206His) c.*818G>C (n.*818G>C) c.856G>C (p.Asp286His) c.*683G>C (n.*683G>C) | |
8 | g.43122722G>T | CA371122920 | POMK | c.898G>T (p.Asp300Tyr) c.*694G>T (n.*694G>T) c.616G>T (p.Asp206Tyr) c.*818G>T (n.*818G>T) c.856G>T (p.Asp286Tyr) c.*683G>T (n.*683G>T) | |
8 | g.43122723A>C | CA371122921 | POMK | c.899A>C (p.Asp300Ala) c.*695A>C (n.*695A>C) c.617A>C (p.Asp206Ala) c.*819A>C (n.*819A>C) c.857A>C (p.Asp286Ala) c.*684A>C (n.*684A>C) | |
8 | g.43122723A>G | CA371122922 | POMK | c.899A>G (p.Asp300Gly) c.*695A>G (n.*695A>G) c.617A>G (p.Asp206Gly) c.*819A>G (n.*819A>G) c.857A>G (p.Asp286Gly) c.*684A>G (n.*684A>G) | |
8 | g.43122723A>T | CA371122923 | POMK | c.899A>T (p.Asp300Val) c.*695A>T (n.*695A>T) c.617A>T (p.Asp206Val) c.*819A>T (n.*819A>T) c.857A>T (p.Asp286Val) c.*684A>T (n.*684A>T) | |
8 | g.43122724T>A | CA371122924 | POMK | c.900T>A (p.Asp300Glu) c.*696T>A (n.*696T>A) c.618T>A (p.Asp206Glu) c.*820T>A (n.*820T>A) c.858T>A (p.Asp286Glu) c.*685T>A (n.*685T>A) | |
8 | g.43122724T>C | CA460787420 | POMK | c.900T>C (p.Asp300=) c.*696T>C (n.*696T>C) c.618T>C (p.Asp206=) c.*820T>C (n.*820T>C) c.858T>C (p.Asp286=) c.*685T>C (n.*685T>C) | |
8 | g.43122724T>G | CA371122925 | POMK | c.900T>G (p.Asp300Glu) c.*696T>G (n.*696T>G) c.618T>G (p.Asp206Glu) c.*820T>G (n.*820T>G) c.858T>G (p.Asp286Glu) c.*685T>G (n.*685T>G) | |
8 | g.43122725A= | CA1779747899 | POMK | c.901A= (p.Met301=) c.*697A= (n.*697A=) c.619A= (p.Met207=) c.*821A= (n.*821A=) c.859A= (p.Met287=) c.*686A= (n.*686A=) | |
8 | g.43122725A>C | CA371122926 | POMK | c.901A>C (p.Met301Leu) c.*697A>C (n.*697A>C) c.619A>C (p.Met207Leu) c.*821A>C (n.*821A>C) c.859A>C (p.Met287Leu) c.*686A>C (n.*686A>C) | |
8 | g.43122725A>G | CA4736373 | POMK | c.901A>G (p.Met301Val) c.*697A>G (n.*697A>G) c.619A>G (p.Met207Val) c.*821A>G (n.*821A>G) c.859A>G (p.Met287Val) c.*686A>G (n.*686A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43122725A>T | CA371122927 | POMK | c.901A>T (p.Met301Leu) c.*697A>T (n.*697A>T) c.619A>T (p.Met207Leu) c.*821A>T (n.*821A>T) c.859A>T (p.Met287Leu) c.*686A>T (n.*686A>T) | |
8 | g.43122726T>A | CA371122928 | POMK | c.902T>A (p.Met301Lys) c.*698T>A (n.*698T>A) c.620T>A (p.Met207Lys) c.*822T>A (n.*822T>A) c.860T>A (p.Met287Lys) c.*687T>A (n.*687T>A) | |
8 | g.43122726T>C | CA4736374 | POMK | c.902T>C (p.Met301Thr) c.*698T>C (n.*698T>C) c.620T>C (p.Met207Thr) c.*822T>C (n.*822T>C) c.860T>C (p.Met287Thr) c.*687T>C (n.*687T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43122726T>G | CA371122929 | POMK | c.902T>G (p.Met301Arg) c.*698T>G (n.*698T>G) c.620T>G (p.Met207Arg) c.*822T>G (n.*822T>G) c.860T>G (p.Met287Arg) c.*687T>G (n.*687T>G) | |
8 | g.43122726T= | CA1779747904 | POMK | c.902T= (p.Met301=) c.*698T= (n.*698T=) c.620T= (p.Met207=) c.*822T= (n.*822T=) c.860T= (p.Met287=) c.*687T= (n.*687T=) | |
8 | g.43122727G>A | CA371122930 | POMK | c.903G>A (p.Met301Ile) c.*699G>A (n.*699G>A) c.621G>A (p.Met207Ile) c.*823G>A (n.*823G>A) c.861G>A (p.Met287Ile) c.*688G>A (n.*688G>A) | |
8 | g.43122727G>C | CA371122931 | POMK | c.903G>C (p.Met301Ile) c.*699G>C (n.*699G>C) c.621G>C (p.Met207Ile) c.*823G>C (n.*823G>C) c.861G>C (p.Met287Ile) c.*688G>C (n.*688G>C) | |
8 | g.43122727G>T | CA371122932 | POMK | c.903G>T (p.Met301Ile) c.*699G>T (n.*699G>T) c.621G>T (p.Met207Ile) c.*823G>T (n.*823G>T) c.861G>T (p.Met287Ile) c.*688G>T (n.*688G>T) | |
8 | g.43122728G>A | CA371122933 | POMK | c.904G>A (p.Val302Ile) c.*700G>A (n.*700G>A) c.622G>A (p.Val208Ile) c.*824G>A (n.*824G>A) c.862G>A (p.Val288Ile) c.*689G>A (n.*689G>A) | |
8 | g.43122728G>C | CA371122934 | POMK | c.904G>C (p.Val302Leu) c.*700G>C (n.*700G>C) c.622G>C (p.Val208Leu) c.*824G>C (n.*824G>C) c.862G>C (p.Val288Leu) c.*689G>C (n.*689G>C) | |
8 | g.43122728G= | CA1779747906 | POMK | c.904G= (p.Val302=) c.*700G= (n.*700G=) c.622G= (p.Val208=) c.*824G= (n.*824G=) c.862G= (p.Val288=) c.*689G= (n.*689G=) | |
8 | g.43122728G>T | CA371122935 | POMK | c.904G>T (p.Val302Phe) c.*700G>T (n.*700G>T) c.622G>T (p.Val208Phe) c.*824G>T (n.*824G>T) c.862G>T (p.Val288Phe) c.*689G>T (n.*689G>T) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.43122729T>A | CA173960 | POMK | c.905T>A (p.Val302Asp) c.*701T>A (n.*701T>A) c.623T>A (p.Val208Asp) c.*825T>A (n.*825T>A) c.863T>A (p.Val288Asp) c.*690T>A (n.*690T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43122729T>C | CA371122936 | POMK | c.905T>C (p.Val302Ala) c.*701T>C (n.*701T>C) c.623T>C (p.Val208Ala) c.*825T>C (n.*825T>C) c.863T>C (p.Val288Ala) c.*690T>C (n.*690T>C) | COSMIC COSMIC |
8 | g.43122729T>G | CA371122937 | POMK | c.905T>G (p.Val302Gly) c.*701T>G (n.*701T>G) c.623T>G (p.Val208Gly) c.*825T>G (n.*825T>G) c.863T>G (p.Val288Gly) c.*690T>G (n.*690T>G) | |
8 | g.43122729T= | CA1779747909 | POMK | c.905T= (p.Val302=) c.*701T= (n.*701T=) c.623T= (p.Val208=) c.*825T= (n.*825T=) c.863T= (p.Val288=) c.*690T= (n.*690T=) | |
8 | g.43122730C>A | CA460787427 | POMK | c.906C>A (p.Val302=) c.*702C>A (n.*702C>A) c.624C>A (p.Val208=) c.*826C>A (n.*826C>A) c.864C>A (p.Val288=) c.*691C>A (n.*691C>A) | |
8 | g.43122730C= | CA1779747915 | POMK | c.906C= (p.Val302=) c.*702C= (n.*702C=) c.624C= (p.Val208=) c.*826C= (n.*826C=) c.864C= (p.Val288=) c.*691C= (n.*691C=) | |
8 | g.43122730C>G | CA460787428 | POMK | c.906C>G (p.Val302=) c.*702C>G (n.*702C>G) c.624C>G (p.Val208=) c.*826C>G (n.*826C>G) c.864C>G (p.Val288=) c.*691C>G (n.*691C>G) | |
8 | g.43122730C>T | CA460787429 | POMK | c.906C>T (p.Val302=) c.*702C>T (n.*702C>T) c.624C>T (p.Val208=) c.*826C>T (n.*826C>T) c.864C>T (p.Val288=) c.*691C>T (n.*691C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43122731C>A | CA460787430 | POMK | c.907C>A (p.Arg303=) c.*703C>A (n.*703C>A) c.625C>A (p.Arg209=) c.*827C>A (n.*827C>A) c.865C>A (p.Arg289=) c.*692C>A (n.*692C>A) | |
8 | g.43122731C= | CA1779747919 | POMK | c.907C= (p.Arg303=) c.*703C= (n.*703C=) c.625C= (p.Arg209=) c.*827C= (n.*827C=) c.865C= (p.Arg289=) c.*692C= (n.*692C=) | |
8 | g.43122731C>G | CA371122938 | POMK | c.907C>G (p.Arg303Gly) c.*703C>G (n.*703C>G) c.625C>G (p.Arg209Gly) c.*827C>G (n.*827C>G) c.865C>G (p.Arg289Gly) c.*692C>G (n.*692C>G) | |
8 | g.43122731C>T | CA4736375 | POMK | c.907C>T (p.Arg303Ter) c.*703C>T (n.*703C>T) c.625C>T (p.Arg209Ter) c.*827C>T (n.*827C>T) c.865C>T (p.Arg289Ter) c.*692C>T (n.*692C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43122732G>A | CA4736376 | POMK | c.908G>A (p.Arg303Gln) c.*704G>A (n.*704G>A) c.626G>A (p.Arg209Gln) c.*828G>A (n.*828G>A) c.866G>A (p.Arg289Gln) c.*693G>A (n.*693G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43122732G>C | CA371122940 | POMK | c.908G>C (p.Arg303Pro) c.*704G>C (n.*704G>C) c.626G>C (p.Arg209Pro) c.*828G>C (n.*828G>C) c.866G>C (p.Arg289Pro) c.*693G>C (n.*693G>C) | |
8 | g.43122732G= | CA1779747923 | POMK | c.908G= (p.Arg303=) c.*704G= (n.*704G=) c.626G= (p.Arg209=) c.*828G= (n.*828G=) c.866G= (p.Arg289=) c.*693G= (n.*693G=) | |
8 | g.43122732G>T | CA371122939 | POMK | c.908G>T (p.Arg303Leu) c.*704G>T (n.*704G>T) c.626G>T (p.Arg209Leu) c.*828G>T (n.*828G>T) c.866G>T (p.Arg289Leu) c.*693G>T (n.*693G>T) | |
8 | g.43122733A>C | CA460787432 | POMK | c.909A>C (p.Arg303=) c.*705A>C (n.*705A>C) c.627A>C (p.Arg209=) c.*829A>C (n.*829A>C) c.867A>C (p.Arg289=) c.*694A>C (n.*694A>C) | |
8 | g.43122733A>G | CA460787433 | POMK | c.909A>G (p.Arg303=) c.*705A>G (n.*705A>G) c.627A>G (p.Arg209=) c.*829A>G (n.*829A>G) c.867A>G (p.Arg289=) c.*694A>G (n.*694A>G) | |
8 | g.43122733A>T | CA460787434 | POMK | c.909A>T (p.Arg303=) c.*705A>T (n.*705A>T) c.627A>T (p.Arg209=) c.*829A>T (n.*829A>T) c.867A>T (p.Arg289=) c.*694A>T (n.*694A>T) | |
8 | g.43122734T>A | CA371122941 | POMK | c.910T>A (p.Phe304Ile) c.*706T>A (n.*706T>A) c.628T>A (p.Phe210Ile) c.*830T>A (n.*830T>A) c.868T>A (p.Phe290Ile) c.*695T>A (n.*695T>A) | |
8 | g.43122734T>C | CA4736377 | POMK | c.910T>C (p.Phe304Leu) c.*706T>C (n.*706T>C) c.628T>C (p.Phe210Leu) c.*830T>C (n.*830T>C) c.868T>C (p.Phe290Leu) c.*695T>C (n.*695T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43122734T>G | CA371122942 | POMK | c.910T>G (p.Phe304Val) c.*706T>G (n.*706T>G) c.628T>G (p.Phe210Val) c.*830T>G (n.*830T>G) c.868T>G (p.Phe290Val) c.*695T>G (n.*695T>G) | |
8 | g.43122734T= | CA1779747931 | POMK | c.910T= (p.Phe304=) c.*706T= (n.*706T=) c.628T= (p.Phe210=) c.*830T= (n.*830T=) c.868T= (p.Phe290=) c.*695T= (n.*695T=) | |
8 | g.43122735T>A | CA371122943 | POMK | c.911T>A (p.Phe304Tyr) c.*707T>A (n.*707T>A) c.629T>A (p.Phe210Tyr) c.*831T>A (n.*831T>A) c.869T>A (p.Phe290Tyr) c.*696T>A (n.*696T>A) | |
8 | g.43122735T>C | CA371122945 | POMK | c.911T>C (p.Phe304Ser) c.*707T>C (n.*707T>C) c.629T>C (p.Phe210Ser) c.*831T>C (n.*831T>C) c.869T>C (p.Phe290Ser) c.*696T>C (n.*696T>C) | |
8 | g.43122735T>G | CA371122944 | POMK | c.911T>G (p.Phe304Cys) c.*707T>G (n.*707T>G) c.629T>G (p.Phe210Cys) c.*831T>G (n.*831T>G) c.869T>G (p.Phe290Cys) c.*696T>G (n.*696T>G) | |
8 | g.43122736C>A | CA371122946 | POMK | c.912C>A (p.Phe304Leu) c.*708C>A (n.*708C>A) c.630C>A (p.Phe210Leu) c.*832C>A (n.*832C>A) c.870C>A (p.Phe290Leu) c.*697C>A (n.*697C>A) | |
8 | g.43122736C>G | CA371122947 | POMK | c.912C>G (p.Phe304Leu) c.*708C>G (n.*708C>G) c.630C>G (p.Phe210Leu) c.*832C>G (n.*832C>G) c.870C>G (p.Phe290Leu) c.*697C>G (n.*697C>G) | |
8 | g.43122736C>T | CA460787439 | POMK | c.912C>T (p.Phe304=) c.*708C>T (n.*708C>T) c.630C>T (p.Phe210=) c.*832C>T (n.*832C>T) c.870C>T (p.Phe290=) c.*697C>T (n.*697C>T) | gnomAD v4 |
8 | g.43122737C>A | CA371122948 | POMK | c.913C>A (p.His305Asn) c.*709C>A (n.*709C>A) c.631C>A (p.His211Asn) c.*833C>A (n.*833C>A) c.871C>A (p.His291Asn) c.*698C>A (n.*698C>A) | |
8 | g.43122737C>G | CA371122949 | POMK | c.913C>G (p.His305Asp) c.*709C>G (n.*709C>G) c.631C>G (p.His211Asp) c.*833C>G (n.*833C>G) c.871C>G (p.His291Asp) c.*698C>G (n.*698C>G) | |
8 | g.43122737C>T | CA371122950 | POMK | c.913C>T (p.His305Tyr) c.*709C>T (n.*709C>T) c.631C>T (p.His211Tyr) c.*833C>T (n.*833C>T) c.871C>T (p.His291Tyr) c.*698C>T (n.*698C>T) | |
8 | g.43122738A= | CA1779747939 | POMK | c.914A= (p.His305=) c.*710A= (n.*710A=) c.632A= (p.His211=) c.*834A= (n.*834A=) c.872A= (p.His291=) c.*699A= (n.*699A=) | |
8 | g.43122738A>C | CA371122951 | POMK | c.914A>C (p.His305Pro) c.*710A>C (n.*710A>C) c.632A>C (p.His211Pro) c.*834A>C (n.*834A>C) c.872A>C (p.His291Pro) c.*699A>C (n.*699A>C) | |
8 | g.43122738A>G | CA4736378 | POMK | c.914A>G (p.His305Arg) c.*710A>G (n.*710A>G) c.632A>G (p.His211Arg) c.*834A>G (n.*834A>G) c.872A>G (p.His291Arg) c.*699A>G (n.*699A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43122738A>T | CA371122952 | POMK | c.914A>T (p.His305Leu) c.*710A>T (n.*710A>T) c.632A>T (p.His211Leu) c.*834A>T (n.*834A>T) c.872A>T (p.His291Leu) c.*699A>T (n.*699A>T) | |
8 | g.43122739T>A | CA371122953 | POMK | c.915T>A (p.His305Gln) c.*711T>A (n.*711T>A) c.633T>A (p.His211Gln) c.*835T>A (n.*835T>A) c.873T>A (p.His291Gln) c.*700T>A (n.*700T>A) | |
8 | g.43122739T>C | CA460787441 | POMK | c.915T>C (p.His305=) c.*711T>C (n.*711T>C) c.633T>C (p.His211=) c.*835T>C (n.*835T>C) c.873T>C (p.His291=) c.*700T>C (n.*700T>C) | |
8 | g.43122739T>G | CA371122954 | POMK | c.915T>G (p.His305Gln) c.*711T>G (n.*711T>G) c.633T>G (p.His211Gln) c.*835T>G (n.*835T>G) c.873T>G (p.His291Gln) c.*700T>G (n.*700T>G) | |
8 | g.43122741dup | CA10603099 | POMK | c.917dup (p.Leu306PhefsTer3) c.*713dup (n.*713dup) c.635dup (p.Leu212PhefsTer3) c.*837dup (n.*837dup) c.875dup (p.Leu292PhefsTer3) c.*702dup (n.*702dup) | ClinVar dbSNP |
8 | g.43122740T>A | CA371122955 | POMK | c.916T>A (p.Leu306Met) c.*712T>A (n.*712T>A) c.634T>A (p.Leu212Met) c.*836T>A (n.*836T>A) c.874T>A (p.Leu292Met) c.*701T>A (n.*701T>A) | |
8 | g.43122740T>C | CA460787442 | POMK | c.916T>C (p.Leu306=) c.*712T>C (n.*712T>C) c.634T>C (p.Leu212=) c.*836T>C (n.*836T>C) c.874T>C (p.Leu292=) c.*701T>C (n.*701T>C) | |
8 | g.43122740T>G | CA371122956 | POMK | c.916T>G (p.Leu306Val) c.*712T>G (n.*712T>G) c.634T>G (p.Leu212Val) c.*836T>G (n.*836T>G) c.874T>G (p.Leu292Val) c.*701T>G (n.*701T>G) | |
8 | g.43122741T>A | CA371122959 | POMK | c.917T>A (p.Leu306Ter) c.*713T>A (n.*713T>A) c.635T>A (p.Leu212Ter) c.*837T>A (n.*837T>A) c.875T>A (p.Leu292Ter) c.*702T>A (n.*702T>A) | |
8 | g.43122741T>C | CA371122958 | POMK | c.917T>C (p.Leu306Ser) c.*713T>C (n.*713T>C) c.635T>C (p.Leu212Ser) c.*837T>C (n.*837T>C) c.875T>C (p.Leu292Ser) c.*702T>C (n.*702T>C) | |
8 | g.43122741T>G | CA371122957 | POMK | c.917T>G (p.Leu306Trp) c.*713T>G (n.*713T>G) c.635T>G (p.Leu212Trp) c.*837T>G (n.*837T>G) c.875T>G (p.Leu292Trp) c.*702T>G (n.*702T>G) | |
8 | g.43122742G>A | CA460787447 | POMK | c.918G>A (p.Leu306=) c.*714G>A (n.*714G>A) c.636G>A (p.Leu212=) c.*838G>A (n.*838G>A) c.876G>A (p.Leu292=) c.*703G>A (n.*703G>A) | |
8 | g.43122742G>C | CA371122960 | POMK | c.918G>C (p.Leu306Phe) c.*714G>C (n.*714G>C) c.636G>C (p.Leu212Phe) c.*838G>C (n.*838G>C) c.876G>C (p.Leu292Phe) c.*703G>C (n.*703G>C) | |
8 | g.43122742G>T | CA371122961 | POMK | c.918G>T (p.Leu306Phe) c.*714G>T (n.*714G>T) c.636G>T (p.Leu212Phe) c.*838G>T (n.*838G>T) c.876G>T (p.Leu292Phe) c.*703G>T (n.*703G>T) | |
8 | g.43122743T>A | CA371122962 | POMK | c.919T>A (p.Phe307Ile) c.*715T>A (n.*715T>A) c.637T>A (p.Phe213Ile) c.*839T>A (n.*839T>A) c.877T>A (p.Phe293Ile) c.*704T>A (n.*704T>A) | |
8 | g.43122743T>C | CA176080751 | POMK | c.919T>C (p.Phe307Leu) c.*715T>C (n.*715T>C) c.637T>C (p.Phe213Leu) c.*839T>C (n.*839T>C) c.877T>C (p.Phe293Leu) c.*704T>C (n.*704T>C) | dbSNP |
8 | g.43122743T>G | CA371122963 | POMK | c.919T>G (p.Phe307Val) c.*715T>G (n.*715T>G) c.637T>G (p.Phe213Val) c.*839T>G (n.*839T>G) c.877T>G (p.Phe293Val) c.*704T>G (n.*704T>G) | |
8 | g.43122743T= | CA1779747950 | POMK | c.919T= (p.Phe307=) c.*715T= (n.*715T=) c.637T= (p.Phe213=) c.*839T= (n.*839T=) c.877T= (p.Phe293=) c.*704T= (n.*704T=) | |
8 | g.43122744T>A | CA371122964 | POMK | c.920T>A (p.Phe307Tyr) c.*716T>A (n.*716T>A) c.638T>A (p.Phe213Tyr) c.*840T>A (n.*840T>A) c.878T>A (p.Phe293Tyr) c.*705T>A (n.*705T>A) | |
8 | g.43122744T>C | CA371122965 | POMK | c.920T>C (p.Phe307Ser) c.*716T>C (n.*716T>C) c.638T>C (p.Phe213Ser) c.*840T>C (n.*840T>C) c.878T>C (p.Phe293Ser) c.*705T>C (n.*705T>C) | gnomAD v4 |
8 | g.43122744T>G | CA371122966 | POMK | c.920T>G (p.Phe307Cys) c.*716T>G (n.*716T>G) c.638T>G (p.Phe213Cys) c.*840T>G (n.*840T>G) c.878T>G (p.Phe293Cys) c.*705T>G (n.*705T>G) | |
8 | g.43122745T>A | CA371122967 | POMK | c.921T>A (p.Phe307Leu) c.*717T>A (n.*717T>A) c.639T>A (p.Phe213Leu) c.*841T>A (n.*841T>A) c.879T>A (p.Phe293Leu) c.*706T>A (n.*706T>A) | |
8 | g.43122745T>C | CA460787449 | POMK | c.921T>C (p.Phe307=) c.*717T>C (n.*717T>C) c.639T>C (p.Phe213=) c.*841T>C (n.*841T>C) c.879T>C (p.Phe293=) c.*706T>C (n.*706T>C) | |
8 | g.43122745T>G | CA371122968 | POMK | c.921T>G (p.Phe307Leu) c.*717T>G (n.*717T>G) c.639T>G (p.Phe213Leu) c.*841T>G (n.*841T>G) c.879T>G (p.Phe293Leu) c.*706T>G (n.*706T>G) | |
8 | g.43122746G>A | CA371122969 | POMK | c.922G>A (p.Asp308Asn) c.*718G>A (n.*718G>A) c.640G>A (p.Asp214Asn) c.*842G>A (n.*842G>A) c.880G>A (p.Asp294Asn) c.*707G>A (n.*707G>A) | |
8 | g.43122746G>C | CA371122970 | POMK | c.922G>C (p.Asp308His) c.*718G>C (n.*718G>C) c.640G>C (p.Asp214His) c.*842G>C (n.*842G>C) c.880G>C (p.Asp294His) c.*707G>C (n.*707G>C) | |
8 | g.43122746G>T | CA371122971 | POMK | c.922G>T (p.Asp308Tyr) c.*718G>T (n.*718G>T) c.640G>T (p.Asp214Tyr) c.*842G>T (n.*842G>T) c.880G>T (p.Asp294Tyr) c.*707G>T (n.*707G>T) | gnomAD v4 |
8 | g.43122747A>C | CA371122973 | POMK | c.923A>C (p.Asp308Ala) c.*719A>C (n.*719A>C) c.641A>C (p.Asp214Ala) c.*843A>C (n.*843A>C) c.881A>C (p.Asp294Ala) c.*708A>C (n.*708A>C) | |
8 | g.43122747A>G | CA371122974 | POMK | c.923A>G (p.Asp308Gly) c.*719A>G (n.*719A>G) c.641A>G (p.Asp214Gly) c.*843A>G (n.*843A>G) c.881A>G (p.Asp294Gly) c.*708A>G (n.*708A>G) | gnomAD v4 |
8 | g.43122747A>T | CA371122972 | POMK | c.923A>T (p.Asp308Val) c.*719A>T (n.*719A>T) c.641A>T (p.Asp214Val) c.*843A>T (n.*843A>T) c.881A>T (p.Asp294Val) c.*708A>T (n.*708A>T) | |
8 | g.43122748T>A | CA371122975 | POMK | c.924T>A (p.Asp308Glu) c.*720T>A (n.*720T>A) c.642T>A (p.Asp214Glu) c.*844T>A (n.*844T>A) c.882T>A (p.Asp294Glu) c.*709T>A (n.*709T>A) | |
8 | g.43122748T>C | CA460787517 | POMK | c.924T>C (p.Asp308=) c.*720T>C (n.*720T>C) c.642T>C (p.Asp214=) c.*844T>C (n.*844T>C) c.882T>C (p.Asp294=) c.*709T>C (n.*709T>C) | |
8 | g.43122748T>G | CA371122976 | POMK | c.924T>G (p.Asp308Glu) c.*720T>G (n.*720T>G) c.642T>G (p.Asp214Glu) c.*844T>G (n.*844T>G) c.882T>G (p.Asp294Glu) c.*709T>G (n.*709T>G) | |
8 | g.43122749A>C | CA371122977 | POMK | c.925A>C (p.Ile309Leu) c.*721A>C (n.*721A>C) c.643A>C (p.Ile215Leu) c.*845A>C (n.*845A>C) c.883A>C (p.Ile295Leu) c.*710A>C (n.*710A>C) | |
8 | g.43122749A>G | CA371122978 | POMK | c.925A>G (p.Ile309Val) c.*721A>G (n.*721A>G) c.643A>G (p.Ile215Val) c.*845A>G (n.*845A>G) c.883A>G (p.Ile295Val) c.*710A>G (n.*710A>G) | |
8 | g.43122749A>T | CA371122979 | POMK | c.925A>T (p.Ile309Phe) c.*721A>T (n.*721A>T) c.643A>T (p.Ile215Phe) c.*845A>T (n.*845A>T) c.883A>T (p.Ile295Phe) c.*710A>T (n.*710A>T) | |
8 | g.43122750T>A | CA371122980 | POMK | c.926T>A (p.Ile309Asn) c.*722T>A (n.*722T>A) c.644T>A (p.Ile215Asn) c.*846T>A (n.*846T>A) c.884T>A (p.Ile295Asn) c.*711T>A (n.*711T>A) | gnomAD v4 |
8 | g.43122750T>C | CA4736379 | POMK | c.926T>C (p.Ile309Thr) c.*722T>C (n.*722T>C) c.644T>C (p.Ile215Thr) c.*846T>C (n.*846T>C) c.884T>C (p.Ile295Thr) c.*711T>C (n.*711T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43122750T>G | CA371122981 | POMK | c.926T>G (p.Ile309Ser) c.*722T>G (n.*722T>G) c.644T>G (p.Ile215Ser) c.*846T>G (n.*846T>G) c.884T>G (p.Ile295Ser) c.*711T>G (n.*711T>G) | |
8 | g.43122750T= | CA1779748162 | POMK | c.926T= (p.Ile309=) c.*722T= (n.*722T=) c.644T= (p.Ile215=) c.*846T= (n.*846T=) c.884T= (p.Ile295=) c.*711T= (n.*711T=) | |
8 | g.43122751T>A | CA460787518 | POMK | c.927T>A (p.Ile309=) c.*723T>A (n.*723T>A) c.645T>A (p.Ile215=) c.*847T>A (n.*847T>A) c.885T>A (p.Ile295=) c.*712T>A (n.*712T>A) | |
8 | g.43122751T>C | CA460787519 | POMK | c.927T>C (p.Ile309=) c.*723T>C (n.*723T>C) c.645T>C (p.Ile215=) c.*847T>C (n.*847T>C) c.885T>C (p.Ile295=) c.*712T>C (n.*712T>C) | |
8 | g.43122751T>G | CA371122982 | POMK | c.927T>G (p.Ile309Met) c.*723T>G (n.*723T>G) c.645T>G (p.Ile215Met) c.*847T>G (n.*847T>G) c.885T>G (p.Ile295Met) c.*712T>G (n.*712T>G) | |
8 | g.43122752C>A | CA371122983 | POMK | c.928C>A (p.His310Asn) c.*724C>A (n.*724C>A) c.646C>A (p.His216Asn) c.*848C>A (n.*848C>A) c.886C>A (p.His296Asn) c.*713C>A (n.*713C>A) | |
8 | g.43122752C>G | CA371122984 | POMK | c.928C>G (p.His310Asp) c.*724C>G (n.*724C>G) c.646C>G (p.His216Asp) c.*848C>G (n.*848C>G) c.886C>G (p.His296Asp) c.*713C>G (n.*713C>G) | |
8 | g.43122752C>T | CA371122985 | POMK | c.928C>T (p.His310Tyr) c.*724C>T (n.*724C>T) c.646C>T (p.His216Tyr) c.*848C>T (n.*848C>T) c.886C>T (p.His296Tyr) c.*713C>T (n.*713C>T) | |
8 | g.43122753A>C | CA371122986 | POMK | c.929A>C (p.His310Pro) c.*725A>C (n.*725A>C) c.647A>C (p.His216Pro) c.*849A>C (n.*849A>C) c.887A>C (p.His296Pro) c.*714A>C (n.*714A>C) | |
8 | g.43122753A>G | CA371122988 | POMK | c.929A>G (p.His310Arg) c.*725A>G (n.*725A>G) c.647A>G (p.His216Arg) c.*849A>G (n.*849A>G) c.887A>G (p.His296Arg) c.*714A>G (n.*714A>G) | |
8 | g.43122753A>T | CA371122987 | POMK | c.929A>T (p.His310Leu) c.*725A>T (n.*725A>T) c.647A>T (p.His216Leu) c.*849A>T (n.*849A>T) c.887A>T (p.His296Leu) c.*714A>T (n.*714A>T) | |
8 | g.43122754C>A | CA371122989 | POMK | c.930C>A (p.His310Gln) c.*726C>A (n.*726C>A) c.648C>A (p.His216Gln) c.*850C>A (n.*850C>A) c.888C>A (p.His296Gln) c.*715C>A (n.*715C>A) | |
8 | g.43122754C>G | CA371122990 | POMK | c.930C>G (p.His310Gln) c.*726C>G (n.*726C>G) c.648C>G (p.His216Gln) c.*850C>G (n.*850C>G) c.888C>G (p.His296Gln) c.*715C>G (n.*715C>G) | |
8 | g.43122754C>T | CA460787523 | POMK | c.930C>T (p.His310=) c.*726C>T (n.*726C>T) c.648C>T (p.His216=) c.*850C>T (n.*850C>T) c.888C>T (p.His296=) c.*715C>T (n.*715C>T) | |
8 | g.43122755A>C | CA371122991 | POMK | c.931A>C (p.Lys311Gln) c.*727A>C (n.*727A>C) c.649A>C (p.Lys217Gln) c.*851A>C (n.*851A>C) c.889A>C (p.Lys297Gln) c.*716A>C (n.*716A>C) | |
8 | g.43122755A>G | CA371122992 | POMK | c.931A>G (p.Lys311Glu) c.*727A>G (n.*727A>G) c.649A>G (p.Lys217Glu) c.*851A>G (n.*851A>G) c.889A>G (p.Lys297Glu) c.*716A>G (n.*716A>G) | |
8 | g.43122755A>T | CA371122993 | POMK | c.931A>T (p.Lys311Ter) c.*727A>T (n.*727A>T) c.649A>T (p.Lys217Ter) c.*851A>T (n.*851A>T) c.889A>T (p.Lys297Ter) c.*716A>T (n.*716A>T) | |
8 | g.43122756A>C | CA371122994 | POMK | c.932A>C (p.Lys311Thr) c.*728A>C (n.*728A>C) c.650A>C (p.Lys217Thr) c.*852A>C (n.*852A>C) c.890A>C (p.Lys297Thr) c.*717A>C (n.*717A>C) | |
8 | g.43122756A>G | CA371122995 | POMK | c.932A>G (p.Lys311Arg) c.*728A>G (n.*728A>G) c.650A>G (p.Lys217Arg) c.*852A>G (n.*852A>G) c.890A>G (p.Lys297Arg) c.*717A>G (n.*717A>G) | |
8 | g.43122756A>T | CA371122996 | POMK | c.932A>T (p.Lys311Ile) c.*728A>T (n.*728A>T) c.650A>T (p.Lys217Ile) c.*852A>T (n.*852A>T) c.890A>T (p.Lys297Ile) c.*717A>T (n.*717A>T) | |
8 | g.43122757A>C | CA371122997 | POMK | c.933A>C (p.Lys311Asn) c.*729A>C (n.*729A>C) c.651A>C (p.Lys217Asn) c.*853A>C (n.*853A>C) c.891A>C (p.Lys297Asn) c.*718A>C (n.*718A>C) | |
8 | g.43122757A>G | CA460787524 | POMK | c.933A>G (p.Lys311=) c.*729A>G (n.*729A>G) c.651A>G (p.Lys217=) c.*853A>G (n.*853A>G) c.891A>G (p.Lys297=) c.*718A>G (n.*718A>G) | |
8 | g.43122757A>T | CA371122998 | POMK | c.933A>T (p.Lys311Asn) c.*729A>T (n.*729A>T) c.651A>T (p.Lys217Asn) c.*853A>T (n.*853A>T) c.891A>T (p.Lys297Asn) c.*718A>T (n.*718A>T) | |
8 | g.43122758G>A | CA371123000 | POMK | c.934G>A (p.Ala312Thr) c.*730G>A (n.*730G>A) c.652G>A (p.Ala218Thr) c.*854G>A (n.*854G>A) c.892G>A (p.Ala298Thr) c.*719G>A (n.*719G>A) | |
8 | g.43122758G>C | CA371123001 | POMK | c.934G>C (p.Ala312Pro) c.*730G>C (n.*730G>C) c.652G>C (p.Ala218Pro) c.*854G>C (n.*854G>C) c.892G>C (p.Ala298Pro) c.*719G>C (n.*719G>C) | |
8 | g.43122758G>T | CA371122999 | POMK | c.934G>T (p.Ala312Ser) c.*730G>T (n.*730G>T) c.652G>T (p.Ala218Ser) c.*854G>T (n.*854G>T) c.892G>T (p.Ala298Ser) c.*719G>T (n.*719G>T) | |
8 | g.43122759C>A | CA371123003 | POMK | c.935C>A (p.Ala312Glu) c.*731C>A (n.*731C>A) c.653C>A (p.Ala218Glu) c.*855C>A (n.*855C>A) c.893C>A (p.Ala298Glu) c.*720C>A (n.*720C>A) | |
8 | g.43122759C= | CA1779748169 | POMK | c.935C= (p.Ala312=) c.*731C= (n.*731C=) c.653C= (p.Ala218=) c.*855C= (n.*855C=) c.893C= (p.Ala298=) c.*720C= (n.*720C=) | |
8 | g.43122759C>G | CA371123002 | POMK | c.935C>G (p.Ala312Gly) c.*731C>G (n.*731C>G) c.653C>G (p.Ala218Gly) c.*855C>G (n.*855C>G) c.893C>G (p.Ala298Gly) c.*720C>G (n.*720C>G) | |
8 | g.43122759C>T | CA176080759 | POMK | c.935C>T (p.Ala312Val) c.*731C>T (n.*731C>T) c.653C>T (p.Ala218Val) c.*855C>T (n.*855C>T) c.893C>T (p.Ala298Val) c.*720C>T (n.*720C>T) | dbSNP |
8 | g.43122760A= | CA1779748174 | POMK | c.936A= (p.Ala312=) c.*732A= (n.*732A=) c.654A= (p.Ala218=) c.*856A= (n.*856A=) c.894A= (p.Ala298=) c.*721A= (n.*721A=) | |
8 | g.43122760A>C | CA460787529 | POMK | c.936A>C (p.Ala312=) c.*732A>C (n.*732A>C) c.654A>C (p.Ala218=) c.*856A>C (n.*856A>C) c.894A>C (p.Ala298=) c.*721A>C (n.*721A>C) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.43122760A>G | CA4736380 | POMK | c.936A>G (p.Ala312=) c.*732A>G (n.*732A>G) c.654A>G (p.Ala218=) c.*856A>G (n.*856A>G) c.894A>G (p.Ala298=) c.*721A>G (n.*721A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.43122760A>T | CA460787530 | POMK | c.936A>T (p.Ala312=) c.*732A>T (n.*732A>T) c.654A>T (p.Ala218=) c.*856A>T (n.*856A>T) c.894A>T (p.Ala298=) c.*721A>T (n.*721A>T) | |
8 | g.43122761T>A | CA371123004 | POMK | c.937T>A (p.Cys313Ser) c.*733T>A (n.*733T>A) c.655T>A (p.Cys219Ser) c.*857T>A (n.*857T>A) c.895T>A (p.Cys299Ser) c.*722T>A (n.*722T>A) | |
8 | g.43122761T>C | CA371123005 | POMK | c.937T>C (p.Cys313Arg) c.*733T>C (n.*733T>C) c.655T>C (p.Cys219Arg) c.*857T>C (n.*857T>C) c.895T>C (p.Cys299Arg) c.*722T>C (n.*722T>C) | |
8 | g.43122761T>G | CA371123006 | POMK | c.937T>G (p.Cys313Gly) c.*733T>G (n.*733T>G) c.655T>G (p.Cys219Gly) c.*857T>G (n.*857T>G) c.895T>G (p.Cys299Gly) c.*722T>G (n.*722T>G) | |
8 | g.43122762G>A | CA371123009 | POMK | c.938G>A (p.Cys313Tyr) c.*734G>A (n.*734G>A) c.656G>A (p.Cys219Tyr) c.*858G>A (n.*858G>A) c.896G>A (p.Cys299Tyr) c.*723G>A (n.*723G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.43122762G>C | CA371123007 | POMK | c.938G>C (p.Cys313Ser) c.*734G>C (n.*734G>C) c.656G>C (p.Cys219Ser) c.*858G>C (n.*858G>C) c.896G>C (p.Cys299Ser) c.*723G>C (n.*723G>C) | |
8 | g.43122762G= | CA1779748177 | POMK | c.938G= (p.Cys313=) c.*734G= (n.*734G=) c.656G= (p.Cys219=) c.*858G= (n.*858G=) c.896G= (p.Cys299=) c.*723G= (n.*723G=) | |
8 | g.43122762G>T | CA371123008 | POMK | c.938G>T (p.Cys313Phe) c.*734G>T (n.*734G>T) c.656G>T (p.Cys219Phe) c.*858G>T (n.*858G>T) c.896G>T (p.Cys299Phe) c.*723G>T (n.*723G>T) | |
8 | g.43122763C>A | CA371123010 | POMK | c.939C>A (p.Cys313Ter) c.*735C>A (n.*735C>A) c.657C>A (p.Cys219Ter) c.*859C>A (n.*859C>A) c.897C>A (p.Cys299Ter) c.*724C>A (n.*724C>A) | |
8 | g.43122763C>G | CA371123011 | POMK | c.939C>G (p.Cys313Trp) c.*735C>G (n.*735C>G) c.657C>G (p.Cys219Trp) c.*859C>G (n.*859C>G) c.897C>G (p.Cys299Trp) c.*724C>G (n.*724C>G) | |
8 | g.43122763C>T | CA460787532 | POMK | c.939C>T (p.Cys313=) c.*735C>T (n.*735C>T) c.657C>T (p.Cys219=) c.*859C>T (n.*859C>T) c.897C>T (p.Cys299=) c.*724C>T (n.*724C>T) | |
8 | g.43122764A= | CA1779748181 | POMK | c.940A= (p.Lys314=) c.*736A= (n.*736A=) c.658A= (p.Lys220=) c.*860A= (n.*860A=) c.898A= (p.Lys300=) c.*725A= (n.*725A=) | |
8 | g.43122764A>C | CA371123012 | POMK | c.940A>C (p.Lys314Gln) c.*736A>C (n.*736A>C) c.658A>C (p.Lys220Gln) c.*860A>C (n.*860A>C) c.898A>C (p.Lys300Gln) c.*725A>C (n.*725A>C) | |
8 | g.43122764A>G | CA371123013 | POMK | c.940A>G (p.Lys314Glu) c.*736A>G (n.*736A>G) c.658A>G (p.Lys220Glu) c.*860A>G (n.*860A>G) c.898A>G (p.Lys300Glu) c.*725A>G (n.*725A>G) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.43122764A>T | CA371123014 | POMK | c.940A>T (p.Lys314Ter) c.*736A>T (n.*736A>T) c.658A>T (p.Lys220Ter) c.*860A>T (n.*860A>T) c.898A>T (p.Lys300Ter) c.*725A>T (n.*725A>T) | |
8 | g.43122765A>C | CA371123015 | POMK | c.941A>C (p.Lys314Thr) c.*737A>C (n.*737A>C) c.659A>C (p.Lys220Thr) c.*861A>C (n.*861A>C) c.899A>C (p.Lys300Thr) c.*726A>C (n.*726A>C) | |
8 | g.43122765A>G | CA371123017 | POMK | c.941A>G (p.Lys314Arg) c.*737A>G (n.*737A>G) c.659A>G (p.Lys220Arg) c.*861A>G (n.*861A>G) c.899A>G (p.Lys300Arg) c.*726A>G (n.*726A>G) | |
8 | g.43122765A>T | CA371123016 | POMK | c.941A>T (p.Lys314Met) c.*737A>T (n.*737A>T) c.659A>T (p.Lys220Met) c.*861A>T (n.*861A>T) c.899A>T (p.Lys300Met) c.*726A>T (n.*726A>T) | |
8 | g.43122766G>A | CA4736381 | POMK | c.942G>A (p.Lys314=) c.*738G>A (n.*738G>A) c.660G>A (p.Lys220=) c.*862G>A (n.*862G>A) c.900G>A (p.Lys300=) c.*727G>A (n.*727G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43122766G>C | CA371123018 | POMK | c.942G>C (p.Lys314Asn) c.*738G>C (n.*738G>C) c.660G>C (p.Lys220Asn) c.*862G>C (n.*862G>C) c.900G>C (p.Lys300Asn) c.*727G>C (n.*727G>C) | |
8 | g.43122766G= | CA1779748184 | POMK | c.942G= (p.Lys314=) c.*738G= (n.*738G=) c.660G= (p.Lys220=) c.*862G= (n.*862G=) c.900G= (p.Lys300=) c.*727G= (n.*727G=) | |
8 | g.43122766G>T | CA371123019 | POMK | c.942G>T (p.Lys314Asn) c.*738G>T (n.*738G>T) c.660G>T (p.Lys220Asn) c.*862G>T (n.*862G>T) c.900G>T (p.Lys300Asn) c.*727G>T (n.*727G>T) | |
8 | g.43122767A>C | CA371123020 | POMK | c.943A>C (p.Ser315Arg) c.*739A>C (n.*739A>C) c.661A>C (p.Ser221Arg) c.*863A>C (n.*863A>C) c.901A>C (p.Ser301Arg) c.*728A>C (n.*728A>C) | |
8 | g.43122767A>G | CA371123021 | POMK | c.943A>G (p.Ser315Gly) c.*739A>G (n.*739A>G) c.661A>G (p.Ser221Gly) c.*863A>G (n.*863A>G) c.901A>G (p.Ser301Gly) c.*728A>G (n.*728A>G) | gnomAD v4 |
8 | g.43122767A>T | CA371123022 | POMK | c.943A>T (p.Ser315Cys) c.*739A>T (n.*739A>T) c.661A>T (p.Ser221Cys) c.*863A>T (n.*863A>T) c.901A>T (p.Ser301Cys) c.*728A>T (n.*728A>T) | gnomAD v4 |
8 | g.43122768G>A | CA371123023 | POMK | c.944G>A (p.Ser315Asn) c.*740G>A (n.*740G>A) c.662G>A (p.Ser221Asn) c.*864G>A (n.*864G>A) c.902G>A (p.Ser301Asn) c.*729G>A (n.*729G>A) | dbSNP gnomAD v4 |
8 | g.43122768G>C | CA371123024 | POMK | c.944G>C (p.Ser315Thr) c.*740G>C (n.*740G>C) c.662G>C (p.Ser221Thr) c.*864G>C (n.*864G>C) c.902G>C (p.Ser301Thr) c.*729G>C (n.*729G>C) | |
8 | g.43122768G= | CA1779748188 | POMK | c.944G= (p.Ser315=) c.*740G= (n.*740G=) c.662G= (p.Ser221=) c.*864G= (n.*864G=) c.902G= (p.Ser301=) c.*729G= (n.*729G=) | |
8 | g.43122768G>T | CA371123025 | POMK | c.944G>T (p.Ser315Ile) c.*740G>T (n.*740G>T) c.662G>T (p.Ser221Ile) c.*864G>T (n.*864G>T) c.902G>T (p.Ser301Ile) c.*729G>T (n.*729G>T) | |
8 | g.43122769C>A | CA371123026 | POMK | c.945C>A (p.Ser315Arg) c.*741C>A (n.*741C>A) c.663C>A (p.Ser221Arg) c.*865C>A (n.*865C>A) c.903C>A (p.Ser301Arg) c.*730C>A (n.*730C>A) | |
8 | g.43122769C= | CA1779748190 | POMK | c.945C= (p.Ser315=) c.*741C= (n.*741C=) c.663C= (p.Ser221=) c.*865C= (n.*865C=) c.903C= (p.Ser301=) c.*730C= (n.*730C=) | |
8 | g.43122769C>G | CA371123027 | POMK | c.945C>G (p.Ser315Arg) c.*741C>G (n.*741C>G) c.663C>G (p.Ser221Arg) c.*865C>G (n.*865C>G) c.903C>G (p.Ser301Arg) c.*730C>G (n.*730C>G) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.43122769C>T | CA460787534 | POMK | c.945C>T (p.Ser315=) c.*741C>T (n.*741C>T) c.663C>T (p.Ser221=) c.*865C>T (n.*865C>T) c.903C>T (p.Ser301=) c.*730C>T (n.*730C>T) | |
8 | g.43122770C>A | CA371123030 | POMK | c.946C>A (p.Gln316Lys) c.*742C>A (n.*742C>A) c.664C>A (p.Gln222Lys) c.*866C>A (n.*866C>A) c.904C>A (p.Gln302Lys) c.*731C>A (n.*731C>A) | |
8 | g.43122770C>G | CA371123029 | POMK | c.946C>G (p.Gln316Glu) c.*742C>G (n.*742C>G) c.664C>G (p.Gln222Glu) c.*866C>G (n.*866C>G) c.904C>G (p.Gln302Glu) c.*731C>G (n.*731C>G) | |
8 | g.43122770C>T | CA371123028 | POMK | c.946C>T (p.Gln316Ter) c.*742C>T (n.*742C>T) c.664C>T (p.Gln222Ter) c.*866C>T (n.*866C>T) c.904C>T (p.Gln302Ter) c.*731C>T (n.*731C>T) | gnomAD v4 |
8 | g.43122771A>C | CA371123031 | POMK | c.947A>C (p.Gln316Pro) c.*743A>C (n.*743A>C) c.665A>C (p.Gln222Pro) c.*867A>C (n.*867A>C) c.905A>C (p.Gln302Pro) c.*732A>C (n.*732A>C) | |
8 | g.43122771A>G | CA371123032 | POMK | c.947A>G (p.Gln316Arg) c.*743A>G (n.*743A>G) c.665A>G (p.Gln222Arg) c.*867A>G (n.*867A>G) c.905A>G (p.Gln302Arg) c.*732A>G (n.*732A>G) | |
8 | g.43122771A>T | CA371123033 | POMK | c.947A>T (p.Gln316Leu) c.*743A>T (n.*743A>T) c.665A>T (p.Gln222Leu) c.*867A>T (n.*867A>T) c.905A>T (p.Gln302Leu) c.*732A>T (n.*732A>T) | |
8 | g.43122772G>A | CA460787535 | POMK | c.948G>A (p.Gln316=) c.*744G>A (n.*744G>A) c.666G>A (p.Gln222=) c.*868G>A (n.*868G>A) c.906G>A (p.Gln302=) c.*733G>A (n.*733G>A) | |
8 | g.43122772G>C | CA371123034 | POMK | c.948G>C (p.Gln316His) c.*744G>C (n.*744G>C) c.666G>C (p.Gln222His) c.*868G>C (n.*868G>C) c.906G>C (p.Gln302His) c.*733G>C (n.*733G>C) | |
8 | g.43122772G>T | CA371123035 | POMK | c.948G>T (p.Gln316His) c.*744G>T (n.*744G>T) c.666G>T (p.Gln222His) c.*868G>T (n.*868G>T) c.906G>T (p.Gln302His) c.*733G>T (n.*733G>T) | |
8 | g.43122773A>C | CA371123038 | POMK | c.949A>C (p.Thr317Pro) c.*745A>C (n.*745A>C) c.667A>C (p.Thr223Pro) c.*869A>C (n.*869A>C) c.907A>C (p.Thr303Pro) c.*734A>C (n.*734A>C) | |
8 | g.43122773A>G | CA371123037 | POMK | c.949A>G (p.Thr317Ala) c.*745A>G (n.*745A>G) c.667A>G (p.Thr223Ala) c.*869A>G (n.*869A>G) c.907A>G (p.Thr303Ala) c.*734A>G (n.*734A>G) | |
8 | g.43122773A>T | CA371123036 | POMK | c.949A>T (p.Thr317Ser) c.*745A>T (n.*745A>T) c.667A>T (p.Thr223Ser) c.*869A>T (n.*869A>T) c.907A>T (p.Thr303Ser) c.*734A>T (n.*734A>T) | |
8 | g.43122774C>A | CA371123039 | POMK | c.950C>A (p.Thr317Asn) c.*746C>A (n.*746C>A) c.668C>A (p.Thr223Asn) c.*870C>A (n.*870C>A) c.908C>A (p.Thr303Asn) c.*735C>A (n.*735C>A) | |
8 | g.43122774C>G | CA371123040 | POMK | c.950C>G (p.Thr317Ser) c.*746C>G (n.*746C>G) c.668C>G (p.Thr223Ser) c.*870C>G (n.*870C>G) c.908C>G (p.Thr303Ser) c.*735C>G (n.*735C>G) | |
8 | g.43122774C>T | CA371123041 | POMK | c.950C>T (p.Thr317Ile) c.*746C>T (n.*746C>T) c.668C>T (p.Thr223Ile) c.*870C>T (n.*870C>T) c.908C>T (p.Thr303Ile) c.*735C>T (n.*735C>T) | gnomAD v4 |
8 | g.43122777_43122780del | CA2687148605 | POMK | c.953_956del (p.Pro318GlnfsTer24) c.*749_*752del (n.*749_*752del) c.671_674del (p.Pro224GlnfsTer24) c.*873_*876del (n.*873_*876del) c.911_914del (p.Pro304GlnfsTer24) c.*738_*741del (n.*738_*741del) | gnomAD v4 |
8 | g.43122775T>A | CA460787538 | POMK | c.951T>A (p.Thr317=) c.*747T>A (n.*747T>A) c.669T>A (p.Thr223=) c.*871T>A (n.*871T>A) c.909T>A (p.Thr303=) c.*736T>A (n.*736T>A) | |
8 | g.43122775T>C | CA460787539 | POMK | c.951T>C (p.Thr317=) c.*747T>C (n.*747T>C) c.669T>C (p.Thr223=) c.*871T>C (n.*871T>C) c.909T>C (p.Thr303=) c.*736T>C (n.*736T>C) | gnomAD v4 |
8 | g.43122775T>G | CA460787540 | POMK | c.951T>G (p.Thr317=) c.*747T>G (n.*747T>G) c.669T>G (p.Thr223=) c.*871T>G (n.*871T>G) c.909T>G (p.Thr303=) c.*736T>G (n.*736T>G) | |
8 | g.43122776C>A | CA371123042 | POMK | c.952C>A (p.Pro318Thr) c.*748C>A (n.*748C>A) c.670C>A (p.Pro224Thr) c.*872C>A (n.*872C>A) c.910C>A (p.Pro304Thr) c.*737C>A (n.*737C>A) | |
8 | g.43122776C>G | CA371123043 | POMK | c.952C>G (p.Pro318Ala) c.*748C>G (n.*748C>G) c.670C>G (p.Pro224Ala) c.*872C>G (n.*872C>G) c.910C>G (p.Pro304Ala) c.*737C>G (n.*737C>G) | |
8 | g.43122776C>T | CA371123044 | POMK | c.952C>T (p.Pro318Ser) c.*748C>T (n.*748C>T) c.670C>T (p.Pro224Ser) c.*872C>T (n.*872C>T) c.910C>T (p.Pro304Ser) c.*737C>T (n.*737C>T) | |
8 | g.43122777C>A | CA371123045 | POMK | c.953C>A (p.Pro318His) c.*749C>A (n.*749C>A) c.671C>A (p.Pro224His) c.*873C>A (n.*873C>A) c.911C>A (p.Pro304His) c.*738C>A (n.*738C>A) | |
8 | g.43122777C>G | CA371123047 | POMK | c.953C>G (p.Pro318Arg) c.*749C>G (n.*749C>G) c.671C>G (p.Pro224Arg) c.*873C>G (n.*873C>G) c.911C>G (p.Pro304Arg) c.*738C>G (n.*738C>G) | |
8 | g.43122777C>T | CA371123046 | POMK | c.953C>T (p.Pro318Leu) c.*749C>T (n.*749C>T) c.671C>T (p.Pro224Leu) c.*873C>T (n.*873C>T) c.911C>T (p.Pro304Leu) c.*738C>T (n.*738C>T) | COSMIC COSMIC |
8 | g.43122778C>A | CA460787544 | POMK | c.954C>A (p.Pro318=) c.*750C>A (n.*750C>A) c.672C>A (p.Pro224=) c.*874C>A (n.*874C>A) c.912C>A (p.Pro304=) c.*739C>A (n.*739C>A) | |
8 | g.43122778C= | CA1779748193 | POMK | c.954C= (p.Pro318=) c.*750C= (n.*750C=) c.672C= (p.Pro224=) c.*874C= (n.*874C=) c.912C= (p.Pro304=) c.*739C= (n.*739C=) | |
8 | g.43122778C>G | CA176080780 | POMK | c.954C>G (p.Pro318=) c.*750C>G (n.*750C>G) c.672C>G (p.Pro224=) c.*874C>G (n.*874C>G) c.912C>G (p.Pro304=) c.*739C>G (n.*739C>G) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.43122778C>T | CA460787545 | POMK | c.954C>T (p.Pro318=) c.*750C>T (n.*750C>T) c.672C>T (p.Pro224=) c.*874C>T (n.*874C>T) c.912C>T (p.Pro304=) c.*739C>T (n.*739C>T) | |
8 | g.43122779T>A | CA371123048 | POMK | c.955T>A (p.Ser319Thr) c.*751T>A (n.*751T>A) c.673T>A (p.Ser225Thr) c.*875T>A (n.*875T>A) c.913T>A (p.Ser305Thr) c.*740T>A (n.*740T>A) | |
8 | g.43122779T>C | CA371123049 | POMK | c.955T>C (p.Ser319Pro) c.*751T>C (n.*751T>C) c.673T>C (p.Ser225Pro) c.*875T>C (n.*875T>C) c.913T>C (p.Ser305Pro) c.*740T>C (n.*740T>C) | |
8 | g.43122779T>G | CA371123050 | POMK | c.955T>G (p.Ser319Ala) c.*751T>G (n.*751T>G) c.673T>G (p.Ser225Ala) c.*875T>G (n.*875T>G) c.913T>G (p.Ser305Ala) c.*740T>G (n.*740T>G) | |
8 | g.43122780C>A | CA371123051 | POMK | c.956C>A (p.Ser319Ter) c.*752C>A (n.*752C>A) c.674C>A (p.Ser225Ter) c.*876C>A (n.*876C>A) c.914C>A (p.Ser305Ter) c.*741C>A (n.*741C>A) | |
8 | g.43122780C= | CA1779748198 | POMK | c.956C= (p.Ser319=) c.*752C= (n.*752C=) c.674C= (p.Ser225=) c.*876C= (n.*876C=) c.914C= (p.Ser305=) c.*741C= (n.*741C=) | |
8 | g.43122780C>G | CA371123052 | POMK | c.956C>G (p.Ser319Ter) c.*752C>G (n.*752C>G) c.674C>G (p.Ser225Ter) c.*876C>G (n.*876C>G) c.914C>G (p.Ser305Ter) c.*741C>G (n.*741C>G) | |
8 | g.43122780C>T | CA371123053 | POMK | c.956C>T (p.Ser319Leu) c.*752C>T (n.*752C>T) c.674C>T (p.Ser225Leu) c.*876C>T (n.*876C>T) c.914C>T (p.Ser305Leu) c.*741C>T (n.*741C>T) | dbSNP gnomAD v4 |
8 | g.43122781A= | CA1779748202 | POMK | c.957A= (p.Ser319=) c.*753A= (n.*753A=) c.675A= (p.Ser225=) c.*877A= (n.*877A=) c.915A= (p.Ser305=) c.*742A= (n.*742A=) | |
8 | g.43122781A>C | CA460787546 | POMK | c.957A>C (p.Ser319=) c.*753A>C (n.*753A>C) c.675A>C (p.Ser225=) c.*877A>C (n.*877A>C) c.915A>C (p.Ser305=) c.*742A>C (n.*742A>C) | |
8 | g.43122781A>G | CA176080782 | POMK | c.957A>G (p.Ser319=) c.*753A>G (n.*753A>G) c.675A>G (p.Ser225=) c.*877A>G (n.*877A>G) c.915A>G (p.Ser305=) c.*742A>G (n.*742A>G) | dbSNP |
8 | g.43122781A>T | CA460787547 | POMK | c.957A>T (p.Ser319=) c.*753A>T (n.*753A>T) c.675A>T (p.Ser225=) c.*877A>T (n.*877A>T) c.915A>T (p.Ser305=) c.*742A>T (n.*742A>T) | |
8 | g.43122784_43122787del | CA2687148610 | POMK | c.960_963del (p.Glu320AspfsTer22) c.*756_*759del (n.*756_*759del) c.678_681del (p.Glu226AspfsTer22) c.*880_*883del (n.*880_*883del) c.918_921del (p.Glu306AspfsTer22) c.*745_*748del (n.*745_*748del) | gnomAD v4 |
8 | g.43122782G>A | CA371123054 | POMK | c.958G>A (p.Glu320Lys) c.*754G>A (n.*754G>A) c.676G>A (p.Glu226Lys) c.*878G>A (n.*878G>A) c.916G>A (p.Glu306Lys) c.*743G>A (n.*743G>A) | |
8 | g.43122782G>C | CA371123055 | POMK | c.958G>C (p.Glu320Gln) c.*754G>C (n.*754G>C) c.676G>C (p.Glu226Gln) c.*878G>C (n.*878G>C) c.916G>C (p.Glu306Gln) c.*743G>C (n.*743G>C) | |
8 | g.43122782G>T | CA371123056 | POMK | c.958G>T (p.Glu320Ter) c.*754G>T (n.*754G>T) c.676G>T (p.Glu226Ter) c.*878G>T (n.*878G>T) c.916G>T (p.Glu306Ter) c.*743G>T (n.*743G>T) | |
8 | g.43122783A>C | CA371123057 | POMK | c.959A>C (p.Glu320Ala) c.*755A>C (n.*755A>C) c.677A>C (p.Glu226Ala) c.*879A>C (n.*879A>C) c.917A>C (p.Glu306Ala) c.*744A>C (n.*744A>C) | |
8 | g.43122783A>G | CA371123058 | POMK | c.959A>G (p.Glu320Gly) c.*755A>G (n.*755A>G) c.677A>G (p.Glu226Gly) c.*879A>G (n.*879A>G) c.917A>G (p.Glu306Gly) c.*744A>G (n.*744A>G) | |
8 | g.43122783A>T | CA371123059 | POMK | c.959A>T (p.Glu320Val) c.*755A>T (n.*755A>T) c.677A>T (p.Glu226Val) c.*879A>T (n.*879A>T) c.917A>T (p.Glu306Val) c.*744A>T (n.*744A>T) | |
8 | g.43122784A>C | CA371123061 | POMK | c.960A>C (p.Glu320Asp) c.*756A>C (n.*756A>C) c.678A>C (p.Glu226Asp) c.*880A>C (n.*880A>C) c.918A>C (p.Glu306Asp) c.*745A>C (n.*745A>C) | |
8 | g.43122784A>G | CA460787549 | POMK | c.960A>G (p.Glu320=) c.*756A>G (n.*756A>G) c.678A>G (p.Glu226=) c.*880A>G (n.*880A>G) c.918A>G (p.Glu306=) c.*745A>G (n.*745A>G) | gnomAD v4 |
8 | g.43122784A>T | CA371123060 | POMK | c.960A>T (p.Glu320Asp) c.*756A>T (n.*756A>T) c.678A>T (p.Glu226Asp) c.*880A>T (n.*880A>T) c.918A>T (p.Glu306Asp) c.*745A>T (n.*745A>T) | |
8 | g.43122785A>C | CA460787550 | POMK | c.961A>C (p.Arg321=) c.*757A>C (n.*757A>C) c.679A>C (p.Arg227=) c.*881A>C (n.*881A>C) c.919A>C (p.Arg307=) c.*746A>C (n.*746A>C) | |
8 | g.43122785A>G | CA371123062 | POMK | c.961A>G (p.Arg321Gly) c.*757A>G (n.*757A>G) c.679A>G (p.Arg227Gly) c.*881A>G (n.*881A>G) c.919A>G (p.Arg307Gly) c.*746A>G (n.*746A>G) | |
8 | g.43122785A>T | CA371123063 | POMK | c.961A>T (p.Arg321Ter) c.*757A>T (n.*757A>T) c.679A>T (p.Arg227Ter) c.*881A>T (n.*881A>T) c.919A>T (p.Arg307Ter) c.*746A>T (n.*746A>T) | |
8 | g.43122786G>A | CA371123064 | POMK | c.962G>A (p.Arg321Lys) c.*758G>A (n.*758G>A) c.680G>A (p.Arg227Lys) c.*882G>A (n.*882G>A) c.920G>A (p.Arg307Lys) c.*747G>A (n.*747G>A) | |
8 | g.43122786G>C | CA371123066 | POMK | c.962G>C (p.Arg321Thr) c.*758G>C (n.*758G>C) c.680G>C (p.Arg227Thr) c.*882G>C (n.*882G>C) c.920G>C (p.Arg307Thr) c.*747G>C (n.*747G>C) | |
8 | g.43122786G>T | CA371123065 | POMK | c.962G>T (p.Arg321Ile) c.*758G>T (n.*758G>T) c.680G>T (p.Arg227Ile) c.*882G>T (n.*882G>T) c.920G>T (p.Arg307Ile) c.*747G>T (n.*747G>T) | |
8 | g.43122787A>C | CA371123067 | POMK | c.963A>C (p.Arg321Ser) c.*759A>C (n.*759A>C) c.681A>C (p.Arg227Ser) c.*883A>C (n.*883A>C) c.921A>C (p.Arg307Ser) c.*748A>C (n.*748A>C) | |
8 | g.43122787A>G | CA460787551 | POMK | c.963A>G (p.Arg321=) c.*759A>G (n.*759A>G) c.681A>G (p.Arg227=) c.*883A>G (n.*883A>G) c.921A>G (p.Arg307=) c.*748A>G (n.*748A>G) | |
8 | g.43122787A>T | CA371123068 | POMK | c.963A>T (p.Arg321Ser) c.*759A>T (n.*759A>T) c.681A>T (p.Arg227Ser) c.*883A>T (n.*883A>T) c.921A>T (p.Arg307Ser) c.*748A>T (n.*748A>T) | |
8 | g.43122788C>A | CA371123069 | POMK | c.964C>A (p.Pro322Thr) c.*760C>A (n.*760C>A) c.682C>A (p.Pro228Thr) c.*884C>A (n.*884C>A) c.922C>A (p.Pro308Thr) c.*749C>A (n.*749C>A) | |
8 | g.43122788C>G | CA371123070 | POMK | c.964C>G (p.Pro322Ala) c.*760C>G (n.*760C>G) c.682C>G (p.Pro228Ala) c.*884C>G (n.*884C>G) c.922C>G (p.Pro308Ala) c.*749C>G (n.*749C>G) | |
8 | g.43122788C>T | CA371123071 | POMK | c.964C>T (p.Pro322Ser) c.*760C>T (n.*760C>T) c.682C>T (p.Pro228Ser) c.*884C>T (n.*884C>T) c.922C>T (p.Pro308Ser) c.*749C>T (n.*749C>T) | |
8 | g.43122789C>A | CA371123072 | POMK | c.965C>A (p.Pro322His) c.*761C>A (n.*761C>A) c.683C>A (p.Pro228His) c.*885C>A (n.*885C>A) c.923C>A (p.Pro308His) c.*750C>A (n.*750C>A) | |
8 | g.43122789C= | CA1779748209 | POMK | c.965C= (p.Pro322=) c.*761C= (n.*761C=) c.683C= (p.Pro228=) c.*885C= (n.*885C=) c.923C= (p.Pro308=) c.*750C= (n.*750C=) | |
8 | g.43122789C>G | CA371123073 | POMK | c.965C>G (p.Pro322Arg) c.*761C>G (n.*761C>G) c.683C>G (p.Pro228Arg) c.*885C>G (n.*885C>G) c.923C>G (p.Pro308Arg) c.*750C>G (n.*750C>G) | |
8 | g.43122789C>T | CA4736382 | POMK | c.965C>T (p.Pro322Leu) c.*761C>T (n.*761C>T) c.683C>T (p.Pro228Leu) c.*885C>T (n.*885C>T) c.923C>T (p.Pro308Leu) c.*750C>T (n.*750C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.43122790C>A | CA460787555 | POMK | c.966C>A (p.Pro322=) c.*762C>A (n.*762C>A) c.684C>A (p.Pro228=) c.*886C>A (n.*886C>A) c.924C>A (p.Pro308=) c.*751C>A (n.*751C>A) | |
8 | g.43122790C= | CA1779748213 | POMK | c.966C= (p.Pro322=) c.*762C= (n.*762C=) c.684C= (p.Pro228=) c.*886C= (n.*886C=) c.924C= (p.Pro308=) c.*751C= (n.*751C=) | |
8 | g.43122790C>G | CA460787557 | POMK | c.966C>G (p.Pro322=) c.*762C>G (n.*762C>G) c.684C>G (p.Pro228=) c.*886C>G (n.*886C>G) c.924C>G (p.Pro308=) c.*751C>G (n.*751C>G) | |
8 | g.43122790C>T | CA4736383 | POMK | c.966C>T (p.Pro322=) c.*762C>T (n.*762C>T) c.684C>T (p.Pro228=) c.*886C>T (n.*886C>T) c.924C>T (p.Pro308=) c.*751C>T (n.*751C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.43122791_43122792insACACA | CA2779904299 | POMK | c.967_968insACACA (p.Thr323AsnfsTer22) c.*763_*764insACACA (n.*763_*764insACACA) c.685_686insACACA (p.Thr229AsnfsTer22) c.*887_*888insACACA (n.*887_*888insACACA) c.925_926insACACA (p.Thr309AsnfsTer22) c.*752_*753insACACA (n.*752_*753insACACA) | |
8 | g.43122791A= | CA1779748215 | POMK | c.967A= (p.Thr323=) c.*763A= (n.*763A=) c.685A= (p.Thr229=) c.*887A= (n.*887A=) c.925A= (p.Thr309=) c.*752A= (n.*752A=) | |
8 | g.43122791A>C | CA371123074 | POMK | c.967A>C (p.Thr323Pro) c.*763A>C (n.*763A>C) c.685A>C (p.Thr229Pro) c.*887A>C (n.*887A>C) c.925A>C (p.Thr309Pro) c.*752A>C (n.*752A>C) | dbSNP |
8 | g.43122791A>G | CA4736384 | POMK | c.967A>G (p.Thr323Ala) c.*763A>G (n.*763A>G) c.685A>G (p.Thr229Ala) c.*887A>G (n.*887A>G) c.925A>G (p.Thr309Ala) c.*752A>G (n.*752A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43122791A>T | CA371123075 | POMK | c.967A>T (p.Thr323Ser) c.*763A>T (n.*763A>T) c.685A>T (p.Thr229Ser) c.*887A>T (n.*887A>T) c.925A>T (p.Thr309Ser) c.*752A>T (n.*752A>T) | |
8 | g.43122792C>A | CA371123076 | POMK | c.968C>A (p.Thr323Asn) c.*764C>A (n.*764C>A) c.686C>A (p.Thr229Asn) c.*888C>A (n.*888C>A) c.926C>A (p.Thr309Asn) c.*753C>A (n.*753C>A) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.43122792C= | CA1779748218 | POMK | c.968C= (p.Thr323=) c.*764C= (n.*764C=) c.686C= (p.Thr229=) c.*888C= (n.*888C=) c.926C= (p.Thr309=) c.*753C= (n.*753C=) | |
8 | g.43122792C>G | CA371123077 | POMK | c.968C>G (p.Thr323Ser) c.*764C>G (n.*764C>G) c.686C>G (p.Thr229Ser) c.*888C>G (n.*888C>G) c.926C>G (p.Thr309Ser) c.*753C>G (n.*753C>G) | |
8 | g.43122792C>T | CA176080807 | POMK | c.968C>T (p.Thr323Ile) c.*764C>T (n.*764C>T) c.686C>T (p.Thr229Ile) c.*888C>T (n.*888C>T) c.926C>T (p.Thr309Ile) c.*753C>T (n.*753C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43122793T>A | CA460787560 | POMK | c.969T>A (p.Thr323=) c.*765T>A (n.*765T>A) c.687T>A (p.Thr229=) c.*889T>A (n.*889T>A) c.927T>A (p.Thr309=) c.*754T>A (n.*754T>A) | |
8 | g.43122793T>C | CA460787561 | POMK | c.969T>C (p.Thr323=) c.*765T>C (n.*765T>C) c.687T>C (p.Thr229=) c.*889T>C (n.*889T>C) c.927T>C (p.Thr309=) c.*754T>C (n.*754T>C) | |
8 | g.43122793T>G | CA460787562 | POMK | c.969T>G (p.Thr323=) c.*765T>G (n.*765T>G) c.687T>G (p.Thr229=) c.*889T>G (n.*889T>G) c.927T>G (p.Thr309=) c.*754T>G (n.*754T>G) | |
8 | g.43122794G>A | CA371123078 | POMK | c.970G>A (p.Ala324Thr) c.*766G>A (n.*766G>A) c.688G>A (p.Ala230Thr) c.*890G>A (n.*890G>A) c.928G>A (p.Ala310Thr) c.*755G>A (n.*755G>A) | gnomAD v4 |
8 | g.43122794G>C | CA371123079 | POMK | c.970G>C (p.Ala324Pro) c.*766G>C (n.*766G>C) c.688G>C (p.Ala230Pro) c.*890G>C (n.*890G>C) c.928G>C (p.Ala310Pro) c.*755G>C (n.*755G>C) | |
8 | g.43122794G>T | CA371123080 | POMK | c.970G>T (p.Ala324Ser) c.*766G>T (n.*766G>T) c.688G>T (p.Ala230Ser) c.*890G>T (n.*890G>T) c.928G>T (p.Ala310Ser) c.*755G>T (n.*755G>T) | ClinVar gnomAD v4 |
8 | g.43122795C>A | CA371123081 | POMK | c.971C>A (p.Ala324Asp) c.*767C>A (n.*767C>A) c.689C>A (p.Ala230Asp) c.*891C>A (n.*891C>A) c.929C>A (p.Ala310Asp) c.*756C>A (n.*756C>A) | |
8 | g.43122795C= | CA1779748223 | POMK | c.971C= (p.Ala324=) c.*767C= (n.*767C=) c.689C= (p.Ala230=) c.*891C= (n.*891C=) c.929C= (p.Ala310=) c.*756C= (n.*756C=) | |
8 | g.43122795C>G | CA371123082 | POMK | c.971C>G (p.Ala324Gly) c.*767C>G (n.*767C>G) c.689C>G (p.Ala230Gly) c.*891C>G (n.*891C>G) c.929C>G (p.Ala310Gly) c.*756C>G (n.*756C>G) | |
8 | g.43122795C>T | CA4736385 | POMK | c.971C>T (p.Ala324Val) c.*767C>T (n.*767C>T) c.689C>T (p.Ala230Val) c.*891C>T (n.*891C>T) c.929C>T (p.Ala310Val) c.*756C>T (n.*756C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.43122796C>A | CA460787568 | POMK | c.972C>A (p.Ala324=) c.*768C>A (n.*768C>A) c.690C>A (p.Ala230=) c.*892C>A (n.*892C>A) c.930C>A (p.Ala310=) c.*757C>A (n.*757C>A) | |
8 | g.43122796C>G | CA460787566 | POMK | c.972C>G (p.Ala324=) c.*768C>G (n.*768C>G) c.690C>G (p.Ala230=) c.*892C>G (n.*892C>G) c.930C>G (p.Ala310=) c.*757C>G (n.*757C>G) | |
8 | g.43122796C>T | CA460787567 | POMK | c.972C>T (p.Ala324=) c.*768C>T (n.*768C>T) c.690C>T (p.Ala230=) c.*892C>T (n.*892C>T) c.930C>T (p.Ala310=) c.*757C>T (n.*757C>T) | COSMIC COSMIC |
8 | g.43122797C>A | CA371123083 | POMK | c.973C>A (p.Gln325Lys) c.*769C>A (n.*769C>A) c.691C>A (p.Gln231Lys) c.*893C>A (n.*893C>A) c.931C>A (p.Gln311Lys) c.*758C>A (n.*758C>A) | |
8 | g.43122797C>G | CA371123084 | POMK | c.973C>G (p.Gln325Glu) c.*769C>G (n.*769C>G) c.691C>G (p.Gln231Glu) c.*893C>G (n.*893C>G) c.931C>G (p.Gln311Glu) c.*758C>G (n.*758C>G) | |
8 | g.43122797C>T | CA371123085 | POMK | c.973C>T (p.Gln325Ter) c.*769C>T (n.*769C>T) c.691C>T (p.Gln231Ter) c.*893C>T (n.*893C>T) c.931C>T (p.Gln311Ter) c.*758C>T (n.*758C>T) | gnomAD v4 |
8 | g.43122798A>C | CA371123087 | POMK | c.974A>C (p.Gln325Pro) c.*770A>C (n.*770A>C) c.692A>C (p.Gln231Pro) c.*894A>C (n.*894A>C) c.932A>C (p.Gln311Pro) c.*759A>C (n.*759A>C) | |
8 | g.43122798A>G | CA371123088 | POMK | c.974A>G (p.Gln325Arg) c.*770A>G (n.*770A>G) c.692A>G (p.Gln231Arg) c.*894A>G (n.*894A>G) c.932A>G (p.Gln311Arg) c.*759A>G (n.*759A>G) | |
8 | g.43122798A>T | CA371123086 | POMK | c.974A>T (p.Gln325Leu) c.*770A>T (n.*770A>T) c.692A>T (p.Gln231Leu) c.*894A>T (n.*894A>T) c.932A>T (p.Gln311Leu) c.*759A>T (n.*759A>T) | |
8 | g.43122799G>A | CA460787569 | POMK | c.975G>A (p.Gln325=) c.*771G>A (n.*771G>A) c.693G>A (p.Gln231=) c.*895G>A (n.*895G>A) c.933G>A (p.Gln311=) c.*760G>A (n.*760G>A) | |
8 | g.43122799G>C | CA371123089 | POMK | c.975G>C (p.Gln325His) c.*771G>C (n.*771G>C) c.693G>C (p.Gln231His) c.*895G>C (n.*895G>C) c.933G>C (p.Gln311His) c.*760G>C (n.*760G>C) | |
8 | g.43122799G>T | CA371123090 | POMK | c.975G>T (p.Gln325His) c.*771G>T (n.*771G>T) c.693G>T (p.Gln231His) c.*895G>T (n.*895G>T) c.933G>T (p.Gln311His) c.*760G>T (n.*760G>T) | |
8 | g.43122800G>A | CA371123091 | POMK | c.976G>A (p.Asp326Asn) c.*772G>A (n.*772G>A) c.694G>A (p.Asp232Asn) c.*896G>A (n.*896G>A) c.934G>A (p.Asp312Asn) c.*761G>A (n.*761G>A) | |
8 | g.43122800G>C | CA371123092 | POMK | c.976G>C (p.Asp326His) c.*772G>C (n.*772G>C) c.694G>C (p.Asp232His) c.*896G>C (n.*896G>C) c.934G>C (p.Asp312His) c.*761G>C (n.*761G>C) | |
8 | g.43122800G>T | CA371123093 | POMK | c.976G>T (p.Asp326Tyr) c.*772G>T (n.*772G>T) c.694G>T (p.Asp232Tyr) c.*896G>T (n.*896G>T) c.934G>T (p.Asp312Tyr) c.*761G>T (n.*761G>T) | |
8 | g.43122801A>C | CA371123094 | POMK | c.977A>C (p.Asp326Ala) c.*773A>C (n.*773A>C) c.695A>C (p.Asp232Ala) c.*897A>C (n.*897A>C) c.935A>C (p.Asp312Ala) c.*762A>C (n.*762A>C) | |
8 | g.43122801A>G | CA371123095 | POMK | c.977A>G (p.Asp326Gly) c.*773A>G (n.*773A>G) c.695A>G (p.Asp232Gly) c.*897A>G (n.*897A>G) c.935A>G (p.Asp312Gly) c.*762A>G (n.*762A>G) | |
8 | g.43122801A>T | CA371123096 | POMK | c.977A>T (p.Asp326Val) c.*773A>T (n.*773A>T) c.695A>T (p.Asp232Val) c.*897A>T (n.*897A>T) c.935A>T (p.Asp312Val) c.*762A>T (n.*762A>T) | |
8 | g.43122802C>A | CA371123097 | POMK | c.978C>A (p.Asp326Glu) c.*774C>A (n.*774C>A) c.696C>A (p.Asp232Glu) c.*898C>A (n.*898C>A) c.936C>A (p.Asp312Glu) c.*763C>A (n.*763C>A) | |
8 | g.43122802C= | CA1779748228 | POMK | c.978C= (p.Asp326=) c.*774C= (n.*774C=) c.696C= (p.Asp232=) c.*898C= (n.*898C=) c.936C= (p.Asp312=) c.*763C= (n.*763C=) | |
8 | g.43122802C>G | CA371123098 | POMK | c.978C>G (p.Asp326Glu) c.*774C>G (n.*774C>G) c.696C>G (p.Asp232Glu) c.*898C>G (n.*898C>G) c.936C>G (p.Asp312Glu) c.*763C>G (n.*763C>G) | |
8 | g.43122802C>T | CA4736387 | POMK | c.978C>T (p.Asp326=) c.*774C>T (n.*774C>T) c.696C>T (p.Asp232=) c.*898C>T (n.*898C>T) c.936C>T (p.Asp312=) c.*763C>T (n.*763C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43122802_43122803delinsCG | CA1779748229 | POMK | c.978_979delinsCG (p.Asp326=) c.*774_*775delinsCG (n.*774_*775delinsCG) c.696_697delinsCG (p.Asp232=) c.*898_*899delinsCG (n.*898_*899delinsCG) c.936_937delinsCG (p.Asp312=) c.*763_*764delinsCG (n.*763_*764delinsCG) | |
8 | g.43122803del | CA4736386 | POMK | c.979del (p.Val327PhefsTer16) c.*775del (n.*775del) c.697del (p.Val233PhefsTer16) c.*899del (n.*899del) c.937del (p.Val313PhefsTer16) c.*764del (n.*764del) | dbSNP ExAC gnomAD v4 |
8 | g.43122803G>A | CA4736388 | POMK | c.979G>A (p.Val327Ile) c.*775G>A (n.*775G>A) c.697G>A (p.Val233Ile) c.*899G>A (n.*899G>A) c.937G>A (p.Val313Ile) c.*764G>A (n.*764G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.43122803G>C | CA371123100 | POMK | c.979G>C (p.Val327Leu) c.*775G>C (n.*775G>C) c.697G>C (p.Val233Leu) c.*899G>C (n.*899G>C) c.937G>C (p.Val313Leu) c.*764G>C (n.*764G>C) | ClinVar dbSNP gnomAD v4 |
8 | g.43122803G= | CA1779748237 | POMK | c.979G= (p.Val327=) c.*775G= (n.*775G=) c.697G= (p.Val233=) c.*899G= (n.*899G=) c.937G= (p.Val313=) c.*764G= (n.*764G=) | |
8 | g.43122803G>T | CA371123099 | POMK | c.979G>T (p.Val327Phe) c.*775G>T (n.*775G>T) c.697G>T (p.Val233Phe) c.*899G>T (n.*899G>T) c.937G>T (p.Val313Phe) c.*764G>T (n.*764G>T) | gnomAD v4 |
8 | g.43122804T>A | CA371123101 | POMK | c.980T>A (p.Val327Asp) c.*776T>A (n.*776T>A) c.698T>A (p.Val233Asp) c.*900T>A (n.*900T>A) c.938T>A (p.Val313Asp) c.*765T>A (n.*765T>A) | |
8 | g.43122804T>C | CA371123102 | POMK | c.980T>C (p.Val327Ala) c.*776T>C (n.*776T>C) c.698T>C (p.Val233Ala) c.*900T>C (n.*900T>C) c.938T>C (p.Val313Ala) c.*765T>C (n.*765T>C) | gnomAD v4 |
8 | g.43122804T>G | CA371123103 | POMK | c.980T>G (p.Val327Gly) c.*776T>G (n.*776T>G) c.698T>G (p.Val233Gly) c.*900T>G (n.*900T>G) c.938T>G (p.Val313Gly) c.*765T>G (n.*765T>G) | |
8 | g.43122805T>A | CA460787574 | POMK | c.981T>A (p.Val327=) c.*777T>A (n.*777T>A) c.699T>A (p.Val233=) c.*901T>A (n.*901T>A) c.939T>A (p.Val313=) c.*766T>A (n.*766T>A) | |
8 | g.43122805T>C | CA460787575 | POMK | c.981T>C (p.Val327=) c.*777T>C (n.*777T>C) c.699T>C (p.Val233=) c.*901T>C (n.*901T>C) c.939T>C (p.Val313=) c.*766T>C (n.*766T>C) | |
8 | g.43122805T>G | CA460787576 | POMK | c.981T>G (p.Val327=) c.*777T>G (n.*777T>G) c.699T>G (p.Val233=) c.*901T>G (n.*901T>G) c.939T>G (p.Val313=) c.*766T>G (n.*766T>G) | |
8 | g.43122806C>A | CA371123104 | POMK | c.982C>A (p.Leu328Met) c.*778C>A (n.*778C>A) c.700C>A (p.Leu234Met) c.*902C>A (n.*902C>A) c.940C>A (p.Leu314Met) c.*767C>A (n.*767C>A) | |
8 | g.43122806C>G | CA371123105 | POMK | c.982C>G (p.Leu328Val) c.*778C>G (n.*778C>G) c.700C>G (p.Leu234Val) c.*902C>G (n.*902C>G) c.940C>G (p.Leu314Val) c.*767C>G (n.*767C>G) | |
8 | g.43122806C>T | CA460787577 | POMK | c.982C>T (p.Leu328=) c.*778C>T (n.*778C>T) c.700C>T (p.Leu234=) c.*902C>T (n.*902C>T) c.940C>T (p.Leu314=) c.*767C>T (n.*767C>T) |