Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
8 | g.43122807T>A | CA371123108 | POMK | c.983T>A (p.Leu328Gln) c.*779T>A (n.*779T>A) c.701T>A (p.Leu234Gln) c.*903T>A (n.*903T>A) c.941T>A (p.Leu314Gln) c.*768T>A (n.*768T>A) | |
8 | g.43122807T>C | CA371123106 | POMK | c.983T>C (p.Leu328Pro) c.*779T>C (n.*779T>C) c.701T>C (p.Leu234Pro) c.*903T>C (n.*903T>C) c.941T>C (p.Leu314Pro) c.*768T>C (n.*768T>C) | |
8 | g.43122807T>G | CA371123107 | POMK | c.983T>G (p.Leu328Arg) c.*779T>G (n.*779T>G) c.701T>G (p.Leu234Arg) c.*903T>G (n.*903T>G) c.941T>G (p.Leu314Arg) c.*768T>G (n.*768T>G) | |
8 | g.43122808G>A | CA460787581 | POMK | c.984G>A (p.Leu328=) c.*780G>A (n.*780G>A) c.702G>A (p.Leu234=) c.*904G>A (n.*904G>A) c.942G>A (p.Leu314=) c.*769G>A (n.*769G>A) | |
8 | g.43122808G>C | CA460787582 | POMK | c.984G>C (p.Leu328=) c.*780G>C (n.*780G>C) c.702G>C (p.Leu234=) c.*904G>C (n.*904G>C) c.942G>C (p.Leu314=) c.*769G>C (n.*769G>C) | |
8 | g.43122808G>T | CA460787583 | POMK | c.984G>T (p.Leu328=) c.*780G>T (n.*780G>T) c.702G>T (p.Leu234=) c.*904G>T (n.*904G>T) c.942G>T (p.Leu314=) c.*769G>T (n.*769G>T) | |
8 | g.43122809G>A | CA371123109 | POMK | c.985G>A (p.Glu329Lys) c.*781G>A (n.*781G>A) c.703G>A (p.Glu235Lys) c.*905G>A (n.*905G>A) c.943G>A (p.Glu315Lys) c.*770G>A (n.*770G>A) | |
8 | g.43122809G>C | CA371123110 | POMK | c.985G>C (p.Glu329Gln) c.*781G>C (n.*781G>C) c.703G>C (p.Glu235Gln) c.*905G>C (n.*905G>C) c.943G>C (p.Glu315Gln) c.*770G>C (n.*770G>C) | |
8 | g.43122809G>T | CA371123111 | POMK | c.985G>T (p.Glu329Ter) c.*781G>T (n.*781G>T) c.703G>T (p.Glu235Ter) c.*905G>T (n.*905G>T) c.943G>T (p.Glu315Ter) c.*770G>T (n.*770G>T) | |
8 | g.43122810A>C | CA371123112 | POMK | c.986A>C (p.Glu329Ala) c.*782A>C (n.*782A>C) c.704A>C (p.Glu235Ala) c.*906A>C (n.*906A>C) c.944A>C (p.Glu315Ala) c.*771A>C (n.*771A>C) | |
8 | g.43122810A>G | CA371123113 | POMK | c.986A>G (p.Glu329Gly) c.*782A>G (n.*782A>G) c.704A>G (p.Glu235Gly) c.*906A>G (n.*906A>G) c.944A>G (p.Glu315Gly) c.*771A>G (n.*771A>G) | COSMIC COSMIC |
8 | g.43122810A>T | CA371123114 | POMK | c.986A>T (p.Glu329Val) c.*782A>T (n.*782A>T) c.704A>T (p.Glu235Val) c.*906A>T (n.*906A>T) c.944A>T (p.Glu315Val) c.*771A>T (n.*771A>T) | |
8 | g.43122811G>A | CA460787584 | POMK | c.987G>A (p.Glu329=) c.*783G>A (n.*783G>A) c.705G>A (p.Glu235=) c.*907G>A (n.*907G>A) c.945G>A (p.Glu315=) c.*772G>A (n.*772G>A) | |
8 | g.43122811G>C | CA371123116 | POMK | c.987G>C (p.Glu329Asp) c.*783G>C (n.*783G>C) c.705G>C (p.Glu235Asp) c.*907G>C (n.*907G>C) c.945G>C (p.Glu315Asp) c.*772G>C (n.*772G>C) | |
8 | g.43122811G>T | CA371123115 | POMK | c.987G>T (p.Glu329Asp) c.*783G>T (n.*783G>T) c.705G>T (p.Glu235Asp) c.*907G>T (n.*907G>T) c.945G>T (p.Glu315Asp) c.*772G>T (n.*772G>T) | |
8 | g.43122812A>C | CA371123117 | POMK | c.988A>C (p.Thr330Pro) c.*784A>C (n.*784A>C) c.706A>C (p.Thr236Pro) c.*908A>C (n.*908A>C) c.946A>C (p.Thr316Pro) c.*773A>C (n.*773A>C) | |
8 | g.43122812A>G | CA371123121 | POMK | c.988A>G (p.Thr330Ala) c.*784A>G (n.*784A>G) c.706A>G (p.Thr236Ala) c.*908A>G (n.*908A>G) c.946A>G (p.Thr316Ala) c.*773A>G (n.*773A>G) | |
8 | g.43122812A>T | CA371123119 | POMK | c.988A>T (p.Thr330Ser) c.*784A>T (n.*784A>T) c.706A>T (p.Thr236Ser) c.*908A>T (n.*908A>T) c.946A>T (p.Thr316Ser) c.*773A>T (n.*773A>T) | |
8 | g.43122813C>A | CA371123123 | POMK | c.989C>A (p.Thr330Asn) c.*785C>A (n.*785C>A) c.707C>A (p.Thr236Asn) c.*909C>A (n.*909C>A) c.947C>A (p.Thr316Asn) c.*774C>A (n.*774C>A) | gnomAD v4 |
8 | g.43122813C= | CA1779748243 | POMK | c.989C= (p.Thr330=) c.*785C= (n.*785C=) c.707C= (p.Thr236=) c.*909C= (n.*909C=) c.947C= (p.Thr316=) c.*774C= (n.*774C=) | |
8 | g.43122813C>G | CA371123125 | POMK | c.989C>G (p.Thr330Ser) c.*785C>G (n.*785C>G) c.707C>G (p.Thr236Ser) c.*909C>G (n.*909C>G) c.947C>G (p.Thr316Ser) c.*774C>G (n.*774C>G) | |
8 | g.43122813C>T | CA4736389 | POMK | c.989C>T (p.Thr330Ile) c.*785C>T (n.*785C>T) c.707C>T (p.Thr236Ile) c.*909C>T (n.*909C>T) c.947C>T (p.Thr316Ile) c.*774C>T (n.*774C>T) | dbSNP ExAC gnomAD v2 |
8 | g.43122814C>A | CA460787587 | POMK | c.990C>A (p.Thr330=) c.*786C>A (n.*786C>A) c.708C>A (p.Thr236=) c.*910C>A (n.*910C>A) c.948C>A (p.Thr316=) c.*775C>A (n.*775C>A) | |
8 | g.43122814C>G | CA460787588 | POMK | c.990C>G (p.Thr330=) c.*786C>G (n.*786C>G) c.708C>G (p.Thr236=) c.*910C>G (n.*910C>G) c.948C>G (p.Thr316=) c.*775C>G (n.*775C>G) | |
8 | g.43122814C>T | CA460787589 | POMK | c.990C>T (p.Thr330=) c.*786C>T (n.*786C>T) c.708C>T (p.Thr236=) c.*910C>T (n.*910C>T) c.948C>T (p.Thr316=) c.*775C>T (n.*775C>T) | |
8 | g.43122815T>A | CA371123129 | POMK | c.991T>A (p.Tyr331Asn) c.*787T>A (n.*787T>A) c.709T>A (p.Tyr237Asn) c.*911T>A (n.*911T>A) c.949T>A (p.Tyr317Asn) c.*776T>A (n.*776T>A) | |
8 | g.43122815T>C | CA371123131 | POMK | c.991T>C (p.Tyr331His) c.*787T>C (n.*787T>C) c.709T>C (p.Tyr237His) c.*911T>C (n.*911T>C) c.949T>C (p.Tyr317His) c.*776T>C (n.*776T>C) | gnomAD v4 |
8 | g.43122815T>G | CA371123133 | POMK | c.991T>G (p.Tyr331Asp) c.*787T>G (n.*787T>G) c.709T>G (p.Tyr237Asp) c.*911T>G (n.*911T>G) c.949T>G (p.Tyr317Asp) c.*776T>G (n.*776T>G) | |
8 | g.43122816A>C | CA371123139 | POMK | c.992A>C (p.Tyr331Ser) c.*788A>C (n.*788A>C) c.710A>C (p.Tyr237Ser) c.*912A>C (n.*912A>C) c.950A>C (p.Tyr317Ser) c.*777A>C (n.*777A>C) | |
8 | g.43122816A>G | CA371123135 | POMK | c.992A>G (p.Tyr331Cys) c.*788A>G (n.*788A>G) c.710A>G (p.Tyr237Cys) c.*912A>G (n.*912A>G) c.950A>G (p.Tyr317Cys) c.*777A>G (n.*777A>G) | |
8 | g.43122816A>T | CA371123138 | POMK | c.992A>T (p.Tyr331Phe) c.*788A>T (n.*788A>T) c.710A>T (p.Tyr237Phe) c.*912A>T (n.*912A>T) c.950A>T (p.Tyr317Phe) c.*777A>T (n.*777A>T) | |
8 | g.43122817C>A | CA371123142 | POMK | c.993C>A (p.Tyr331Ter) c.*789C>A (n.*789C>A) c.711C>A (p.Tyr237Ter) c.*913C>A (n.*913C>A) c.951C>A (p.Tyr317Ter) c.*778C>A (n.*778C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43122817C= | CA1779748246 | POMK | c.993C= (p.Tyr331=) c.*789C= (n.*789C=) c.711C= (p.Tyr237=) c.*913C= (n.*913C=) c.951C= (p.Tyr317=) c.*778C= (n.*778C=) | |
8 | g.43122817C>G | CA371123144 | POMK | c.993C>G (p.Tyr331Ter) c.*789C>G (n.*789C>G) c.711C>G (p.Tyr237Ter) c.*913C>G (n.*913C>G) c.951C>G (p.Tyr317Ter) c.*778C>G (n.*778C>G) | |
8 | g.43122817C>T | CA460787591 | POMK | c.993C>T (p.Tyr331=) c.*789C>T (n.*789C>T) c.711C>T (p.Tyr237=) c.*913C>T (n.*913C>T) c.951C>T (p.Tyr317=) c.*778C>T (n.*778C>T) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.43122818C>A | CA371123147 | POMK | c.994C>A (p.Gln332Lys) c.*790C>A (n.*790C>A) c.712C>A (p.Gln238Lys) c.*914C>A (n.*914C>A) c.952C>A (p.Gln318Lys) c.*779C>A (n.*779C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43122818C= | CA1779748252 | POMK | c.994C= (p.Gln332=) c.*790C= (n.*790C=) c.712C= (p.Gln238=) c.*914C= (n.*914C=) c.952C= (p.Gln318=) c.*779C= (n.*779C=) | |
8 | g.43122818C>G | CA371123148 | POMK | c.994C>G (p.Gln332Glu) c.*790C>G (n.*790C>G) c.712C>G (p.Gln238Glu) c.*914C>G (n.*914C>G) c.952C>G (p.Gln318Glu) c.*779C>G (n.*779C>G) | |
8 | g.43122818C>T | CA371123151 | POMK | c.994C>T (p.Gln332Ter) c.*790C>T (n.*790C>T) c.712C>T (p.Gln238Ter) c.*914C>T (n.*914C>T) c.952C>T (p.Gln318Ter) c.*779C>T (n.*779C>T) | gnomAD v4 |
8 | g.43122819A>C | CA371123153 | POMK | c.995A>C (p.Gln332Pro) c.*791A>C (n.*791A>C) c.713A>C (p.Gln238Pro) c.*915A>C (n.*915A>C) c.953A>C (p.Gln318Pro) c.*780A>C (n.*780A>C) | |
8 | g.43122819A>G | CA371123157 | POMK | c.995A>G (p.Gln332Arg) c.*791A>G (n.*791A>G) c.713A>G (p.Gln238Arg) c.*915A>G (n.*915A>G) c.953A>G (p.Gln318Arg) c.*780A>G (n.*780A>G) | COSMIC COSMIC |
8 | g.43122819A>T | CA371123156 | POMK | c.995A>T (p.Gln332Leu) c.*791A>T (n.*791A>T) c.713A>T (p.Gln238Leu) c.*915A>T (n.*915A>T) c.953A>T (p.Gln318Leu) c.*780A>T (n.*780A>T) | |
8 | g.43122820G>A | CA460787592 | POMK | c.996G>A (p.Gln332=) c.*792G>A (n.*792G>A) c.714G>A (p.Gln238=) c.*916G>A (n.*916G>A) c.954G>A (p.Gln318=) c.*781G>A (n.*781G>A) | |
8 | g.43122820G>C | CA371123159 | POMK | c.996G>C (p.Gln332His) c.*792G>C (n.*792G>C) c.714G>C (p.Gln238His) c.*916G>C (n.*916G>C) c.954G>C (p.Gln318His) c.*781G>C (n.*781G>C) | |
8 | g.43122820G>T | CA371123161 | POMK | c.996G>T (p.Gln332His) c.*792G>T (n.*792G>T) c.714G>T (p.Gln238His) c.*916G>T (n.*916G>T) c.954G>T (p.Gln318His) c.*781G>T (n.*781G>T) | |
8 | g.43122821A>C | CA371123163 | POMK | c.997A>C (p.Lys333Gln) c.*793A>C (n.*793A>C) c.715A>C (p.Lys239Gln) c.*917A>C (n.*917A>C) c.955A>C (p.Lys319Gln) c.*782A>C (n.*782A>C) | |
8 | g.43122821A>G | CA371123165 | POMK | c.997A>G (p.Lys333Glu) c.*793A>G (n.*793A>G) c.715A>G (p.Lys239Glu) c.*917A>G (n.*917A>G) c.955A>G (p.Lys319Glu) c.*782A>G (n.*782A>G) | |
8 | g.43122821A>T | CA371123167 | POMK | c.997A>T (p.Lys333Ter) c.*793A>T (n.*793A>T) c.715A>T (p.Lys239Ter) c.*917A>T (n.*917A>T) c.955A>T (p.Lys319Ter) c.*782A>T (n.*782A>T) | |
8 | g.43122822A>C | CA371123170 | POMK | c.998A>C (p.Lys333Thr) c.*794A>C (n.*794A>C) c.716A>C (p.Lys239Thr) c.*918A>C (n.*918A>C) c.956A>C (p.Lys319Thr) c.*783A>C (n.*783A>C) | |
8 | g.43122822A>G | CA371123172 | POMK | c.998A>G (p.Lys333Arg) c.*794A>G (n.*794A>G) c.716A>G (p.Lys239Arg) c.*918A>G (n.*918A>G) c.956A>G (p.Lys319Arg) c.*783A>G (n.*783A>G) | |
8 | g.43122822A>T | CA371123173 | POMK | c.998A>T (p.Lys333Met) c.*794A>T (n.*794A>T) c.716A>T (p.Lys239Met) c.*918A>T (n.*918A>T) c.956A>T (p.Lys319Met) c.*783A>T (n.*783A>T) | |
8 | g.43122823G>A | CA460787594 | POMK | c.999G>A (p.Lys333=) c.*795G>A (n.*795G>A) c.717G>A (p.Lys239=) c.*919G>A (n.*919G>A) c.957G>A (p.Lys319=) c.*784G>A (n.*784G>A) | gnomAD v4 |
8 | g.43122823G>C | CA371123176 | POMK | c.999G>C (p.Lys333Asn) c.*795G>C (n.*795G>C) c.717G>C (p.Lys239Asn) c.*919G>C (n.*919G>C) c.957G>C (p.Lys319Asn) c.*784G>C (n.*784G>C) | |
8 | g.43122823G>T | CA371123178 | POMK | c.999G>T (p.Lys333Asn) c.*795G>T (n.*795G>T) c.717G>T (p.Lys239Asn) c.*919G>T (n.*919G>T) c.957G>T (p.Lys319Asn) c.*784G>T (n.*784G>T) | |
8 | g.43122824G>A | CA371123184 | POMK | c.1000G>A (p.Val334Ile) c.*796G>A (n.*796G>A) c.718G>A (p.Val240Ile) c.*920G>A (n.*920G>A) c.958G>A (p.Val320Ile) c.*785G>A (n.*785G>A) | |
8 | g.43122824G>C | CA371123182 | POMK | c.1000G>C (p.Val334Leu) c.*796G>C (n.*796G>C) c.718G>C (p.Val240Leu) c.*920G>C (n.*920G>C) c.958G>C (p.Val320Leu) c.*785G>C (n.*785G>C) | |
8 | g.43122824G>T | CA371123180 | POMK | c.1000G>T (p.Val334Phe) c.*796G>T (n.*796G>T) c.718G>T (p.Val240Phe) c.*920G>T (n.*920G>T) c.958G>T (p.Val320Phe) c.*785G>T (n.*785G>T) | |
8 | g.43122825T>A | CA371123187 | POMK | c.1001T>A (p.Val334Asp) c.*797T>A (n.*797T>A) c.719T>A (p.Val240Asp) c.*921T>A (n.*921T>A) c.959T>A (p.Val320Asp) c.*786T>A (n.*786T>A) | |
8 | g.43122825T>C | CA371123189 | POMK | c.1001T>C (p.Val334Ala) c.*797T>C (n.*797T>C) c.719T>C (p.Val240Ala) c.*921T>C (n.*921T>C) c.959T>C (p.Val320Ala) c.*786T>C (n.*786T>C) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.43122825T>G | CA371123191 | POMK | c.1001T>G (p.Val334Gly) c.*797T>G (n.*797T>G) c.719T>G (p.Val240Gly) c.*921T>G (n.*921T>G) c.959T>G (p.Val320Gly) c.*786T>G (n.*786T>G) | |
8 | g.43122825T= | CA1779748257 | POMK | c.1001T= (p.Val334=) c.*797T= (n.*797T=) c.719T= (p.Val240=) c.*921T= (n.*921T=) c.959T= (p.Val320=) c.*786T= (n.*786T=) | |
8 | g.43122826C>A | CA460787596 | POMK | c.1002C>A (p.Val334=) c.*798C>A (n.*798C>A) c.720C>A (p.Val240=) c.*922C>A (n.*922C>A) c.960C>A (p.Val320=) c.*787C>A (n.*787C>A) | |
8 | g.43122826C= | CA1779748263 | POMK | c.1002C= (p.Val334=) c.*798C= (n.*798C=) c.720C= (p.Val240=) c.*922C= (n.*922C=) c.960C= (p.Val320=) c.*787C= (n.*787C=) | |
8 | g.43122826C>G | CA460787597 | POMK | c.1002C>G (p.Val334=) c.*798C>G (n.*798C>G) c.720C>G (p.Val240=) c.*922C>G (n.*922C>G) c.960C>G (p.Val320=) c.*787C>G (n.*787C>G) | dbSNP |
8 | g.43122826C>T | CA460787598 | POMK | c.1002C>T (p.Val334=) c.*798C>T (n.*798C>T) c.720C>T (p.Val240=) c.*922C>T (n.*922C>T) c.960C>T (p.Val320=) c.*787C>T (n.*787C>T) | |
8 | g.43122827T>A | CA371123194 | POMK | c.1003T>A (p.Leu335Met) c.*799T>A (n.*799T>A) c.721T>A (p.Leu241Met) c.*923T>A (n.*923T>A) c.961T>A (p.Leu321Met) c.*788T>A (n.*788T>A) | |
8 | g.43122827T>C | CA4736390 | POMK | c.1003T>C (p.Leu335=) c.*799T>C (n.*799T>C) c.721T>C (p.Leu241=) c.*923T>C (n.*923T>C) c.961T>C (p.Leu321=) c.*788T>C (n.*788T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.43122827T>G | CA371123197 | POMK | c.1003T>G (p.Leu335Val) c.*799T>G (n.*799T>G) c.721T>G (p.Leu241Val) c.*923T>G (n.*923T>G) c.961T>G (p.Leu321Val) c.*788T>G (n.*788T>G) | |
8 | g.43122827T= | CA1779748266 | POMK | c.1003T= (p.Leu335=) c.*799T= (n.*799T=) c.721T= (p.Leu241=) c.*923T= (n.*923T=) c.961T= (p.Leu321=) c.*788T= (n.*788T=) | |
8 | g.43122827_43122828insCCTACCAGAAG | CA2573143106 | POMK | c.1003_1004insCCTACCAGAAG (p.Leu335SerfsTer12) c.*799_*800insCCTACCAGAAG (n.*799_*800insCCTACCAGAAG) c.721_722insCCTACCAGAAG (p.Leu241SerfsTer12) c.*923_*924insCCTACCAGAAG (n.*923_*924insCCTACCAGAAG) c.961_962insCCTACCAGAAG (p.Leu321SerfsTer12) c.*788_*789insCCTACCAGAAG (n.*788_*789insCCTACCAGAAG) | dbSNP |
8 | g.43122828T>A | CA371123203 | POMK | c.1004T>A (p.Leu335Ter) c.*800T>A (n.*800T>A) c.722T>A (p.Leu241Ter) c.*924T>A (n.*924T>A) c.962T>A (p.Leu321Ter) c.*789T>A (n.*789T>A) | |
8 | g.43122828T>C | CA371123200 | POMK | c.1004T>C (p.Leu335Ser) c.*800T>C (n.*800T>C) c.722T>C (p.Leu241Ser) c.*924T>C (n.*924T>C) c.962T>C (p.Leu321Ser) c.*789T>C (n.*789T>C) | |
8 | g.43122828T>G | CA371123201 | POMK | c.1004T>G (p.Leu335Trp) c.*800T>G (n.*800T>G) c.722T>G (p.Leu241Trp) c.*924T>G (n.*924T>G) c.962T>G (p.Leu321Trp) c.*789T>G (n.*789T>G) | |
8 | g.43122829G>A | CA460787599 | POMK | c.1005G>A (p.Leu335=) c.*801G>A (n.*801G>A) c.723G>A (p.Leu241=) c.*925G>A (n.*925G>A) c.963G>A (p.Leu321=) c.*790G>A (n.*790G>A) | |
8 | g.43122829G>C | CA371123205 | POMK | c.1005G>C (p.Leu335Phe) c.*801G>C (n.*801G>C) c.723G>C (p.Leu241Phe) c.*925G>C (n.*925G>C) c.963G>C (p.Leu321Phe) c.*790G>C (n.*790G>C) | |
8 | g.43122829G>T | CA371123207 | POMK | c.1005G>T (p.Leu335Phe) c.*801G>T (n.*801G>T) c.723G>T (p.Leu241Phe) c.*925G>T (n.*925G>T) c.963G>T (p.Leu321Phe) c.*790G>T (n.*790G>T) | |
8 | g.43122830G>A | CA4736391 | POMK | c.1006G>A (p.Asp336Asn) c.*802G>A (n.*802G>A) c.724G>A (p.Asp242Asn) c.*926G>A (n.*926G>A) c.964G>A (p.Asp322Asn) c.*791G>A (n.*791G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43122830G>C | CA371123211 | POMK | c.1006G>C (p.Asp336His) c.*802G>C (n.*802G>C) c.724G>C (p.Asp242His) c.*926G>C (n.*926G>C) c.964G>C (p.Asp322His) c.*791G>C (n.*791G>C) | |
8 | g.43122830G= | CA1779748274 | POMK | c.1006G= (p.Asp336=) c.*802G= (n.*802G=) c.724G= (p.Asp242=) c.*926G= (n.*926G=) c.964G= (p.Asp322=) c.*791G= (n.*791G=) | |
8 | g.43122830G>T | CA371123212 | POMK | c.1006G>T (p.Asp336Tyr) c.*802G>T (n.*802G>T) c.724G>T (p.Asp242Tyr) c.*926G>T (n.*926G>T) c.964G>T (p.Asp322Tyr) c.*791G>T (n.*791G>T) | |
8 | g.43122831A>C | CA371123216 | POMK | c.1007A>C (p.Asp336Ala) c.*803A>C (n.*803A>C) c.725A>C (p.Asp242Ala) c.*927A>C (n.*927A>C) c.965A>C (p.Asp322Ala) c.*792A>C (n.*792A>C) | |
8 | g.43122831A>G | CA371123219 | POMK | c.1007A>G (p.Asp336Gly) c.*803A>G (n.*803A>G) c.725A>G (p.Asp242Gly) c.*927A>G (n.*927A>G) c.965A>G (p.Asp322Gly) c.*792A>G (n.*792A>G) | |
8 | g.43122831A>T | CA371123217 | POMK | c.1007A>T (p.Asp336Val) c.*803A>T (n.*803A>T) c.725A>T (p.Asp242Val) c.*927A>T (n.*927A>T) c.965A>T (p.Asp322Val) c.*792A>T (n.*792A>T) | gnomAD v4 |
8 | g.43122832T>A | CA371123222 | POMK | c.1008T>A (p.Asp336Glu) c.*804T>A (n.*804T>A) c.726T>A (p.Asp242Glu) c.*928T>A (n.*928T>A) c.966T>A (p.Asp322Glu) c.*793T>A (n.*793T>A) | |
8 | g.43122832T>C | CA460787603 | POMK | c.1008T>C (p.Asp336=) c.*804T>C (n.*804T>C) c.726T>C (p.Asp242=) c.*928T>C (n.*928T>C) c.966T>C (p.Asp322=) c.*793T>C (n.*793T>C) | |
8 | g.43122832T>G | CA371123223 | POMK | c.1008T>G (p.Asp336Glu) c.*804T>G (n.*804T>G) c.726T>G (p.Asp242Glu) c.*928T>G (n.*928T>G) c.966T>G (p.Asp322Glu) c.*793T>G (n.*793T>G) | |
8 | g.43122833A>C | CA371123226 | POMK | c.1009A>C (p.Thr337Pro) c.*805A>C (n.*805A>C) c.727A>C (p.Thr243Pro) c.*929A>C (n.*929A>C) c.967A>C (p.Thr323Pro) c.*794A>C (n.*794A>C) | |
8 | g.43122833A>G | CA371123227 | POMK | c.1009A>G (p.Thr337Ala) c.*805A>G (n.*805A>G) c.727A>G (p.Thr243Ala) c.*929A>G (n.*929A>G) c.967A>G (p.Thr323Ala) c.*794A>G (n.*794A>G) | gnomAD v4 |
8 | g.43122833A>T | CA371123230 | POMK | c.1009A>T (p.Thr337Ser) c.*805A>T (n.*805A>T) c.727A>T (p.Thr243Ser) c.*929A>T (n.*929A>T) c.967A>T (p.Thr323Ser) c.*794A>T (n.*794A>T) | |
8 | g.43122834C>A | CA4736392 | POMK | c.1010C>A (p.Thr337Lys) c.*806C>A (n.*806C>A) c.728C>A (p.Thr243Lys) c.*930C>A (n.*930C>A) c.968C>A (p.Thr323Lys) c.*795C>A (n.*795C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.43122834C= | CA1779748277 | POMK | c.1010C= (p.Thr337=) c.*806C= (n.*806C=) c.728C= (p.Thr243=) c.*930C= (n.*930C=) c.968C= (p.Thr323=) c.*795C= (n.*795C=) | |
8 | g.43122834C>G | CA371123233 | POMK | c.1010C>G (p.Thr337Arg) c.*806C>G (n.*806C>G) c.728C>G (p.Thr243Arg) c.*930C>G (n.*930C>G) c.968C>G (p.Thr323Arg) c.*795C>G (n.*795C>G) | |
8 | g.43122834C>T | CA371123235 | POMK | c.1010C>T (p.Thr337Ile) c.*806C>T (n.*806C>T) c.728C>T (p.Thr243Ile) c.*930C>T (n.*930C>T) c.968C>T (p.Thr323Ile) c.*795C>T (n.*795C>T) | gnomAD v4 |
8 | g.43122835A= | CA1779748279 | POMK | c.1011A= (p.Thr337=) c.*807A= (n.*807A=) c.729A= (p.Thr243=) c.*931A= (n.*931A=) c.969A= (p.Thr323=) c.*796A= (n.*796A=) | |
8 | g.43122835A>C | CA460787605 | POMK | c.1011A>C (p.Thr337=) c.*807A>C (n.*807A>C) c.729A>C (p.Thr243=) c.*931A>C (n.*931A>C) c.969A>C (p.Thr323=) c.*796A>C (n.*796A>C) | dbSNP gnomAD v4 |
8 | g.43122835A>G | CA460787606 | POMK | c.1011A>G (p.Thr337=) c.*807A>G (n.*807A>G) c.729A>G (p.Thr243=) c.*931A>G (n.*931A>G) c.969A>G (p.Thr323=) c.*796A>G (n.*796A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.43122835A>T | CA460787607 | POMK | c.1011A>T (p.Thr337=) c.*807A>T (n.*807A>T) c.729A>T (p.Thr243=) c.*931A>T (n.*931A>T) c.969A>T (p.Thr323=) c.*796A>T (n.*796A>T) | |
8 | g.43122836C>A | CA371123238 | POMK | c.1012C>A (p.Leu338Ile) c.*808C>A (n.*808C>A) c.730C>A (p.Leu244Ile) c.*932C>A (n.*932C>A) c.970C>A (p.Leu324Ile) c.*797C>A (n.*797C>A) | |
8 | g.43122836C= | CA1779748283 | POMK | c.1012C= (p.Leu338=) c.*808C= (n.*808C=) c.730C= (p.Leu244=) c.*932C= (n.*932C=) c.970C= (p.Leu324=) c.*797C= (n.*797C=) | |
8 | g.43122836C>G | CA371123240 | POMK | c.1012C>G (p.Leu338Val) c.*808C>G (n.*808C>G) c.730C>G (p.Leu244Val) c.*932C>G (n.*932C>G) c.970C>G (p.Leu324Val) c.*797C>G (n.*797C>G) | |
8 | g.43122836C>T | CA371123241 | POMK | c.1012C>T (p.Leu338Phe) c.*808C>T (n.*808C>T) c.730C>T (p.Leu244Phe) c.*932C>T (n.*932C>T) c.970C>T (p.Leu324Phe) c.*797C>T (n.*797C>T) | gnomAD v4 |
8 | g.43122837T>A | CA371123246 | POMK | c.1013T>A (p.Leu338His) c.*809T>A (n.*809T>A) c.731T>A (p.Leu244His) c.*933T>A (n.*933T>A) c.971T>A (p.Leu324His) c.*798T>A (n.*798T>A) | |
8 | g.43122837T>C | CA371123250 | POMK | c.1013T>C (p.Leu338Pro) c.*809T>C (n.*809T>C) c.731T>C (p.Leu244Pro) c.*933T>C (n.*933T>C) c.971T>C (p.Leu324Pro) c.*798T>C (n.*798T>C) | |
8 | g.43122837T>G | CA4736394 | POMK | c.1013T>G (p.Leu338Arg) c.*809T>G (n.*809T>G) c.731T>G (p.Leu244Arg) c.*933T>G (n.*933T>G) c.971T>G (p.Leu324Arg) c.*798T>G (n.*798T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43122837T= | CA1779748289 | POMK | c.1013T= (p.Leu338=) c.*809T= (n.*809T=) c.731T= (p.Leu244=) c.*933T= (n.*933T=) c.971T= (p.Leu324=) c.*798T= (n.*798T=) | |
8 | g.43122838dup | CA4736393 | POMK | c.1014dup (p.Arg339Ter) c.*810dup (n.*810dup) c.732dup (p.Arg245Ter) c.*934dup (n.*934dup) c.972dup (p.Arg325Ter) c.*799dup (n.*799dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.43122838T>A | CA460787608 | POMK | c.1014T>A (p.Leu338=) c.*810T>A (n.*810T>A) c.732T>A (p.Leu244=) c.*934T>A (n.*934T>A) c.972T>A (p.Leu324=) c.*799T>A (n.*799T>A) | |
8 | g.43122838T>C | CA460787609 | POMK | c.1014T>C (p.Leu338=) c.*810T>C (n.*810T>C) c.732T>C (p.Leu244=) c.*934T>C (n.*934T>C) c.972T>C (p.Leu324=) c.*799T>C (n.*799T>C) | |
8 | g.43122838T>G | CA460787610 | POMK | c.1014T>G (p.Leu338=) c.*810T>G (n.*810T>G) c.732T>G (p.Leu244=) c.*934T>G (n.*934T>G) c.972T>G (p.Leu324=) c.*799T>G (n.*799T>G) | |
8 | g.43122839A>C | CA460787611 | POMK | c.1015A>C (p.Arg339=) c.*811A>C (n.*811A>C) c.733A>C (p.Arg245=) c.*935A>C (n.*935A>C) c.973A>C (p.Arg325=) c.*800A>C (n.*800A>C) | |
8 | g.43122839A>G | CA371123254 | POMK | c.1015A>G (p.Arg339Gly) c.*811A>G (n.*811A>G) c.733A>G (p.Arg245Gly) c.*935A>G (n.*935A>G) c.973A>G (p.Arg325Gly) c.*800A>G (n.*800A>G) | |
8 | g.43122839A>T | CA371123252 | POMK | c.1015A>T (p.Arg339Ter) c.*811A>T (n.*811A>T) c.733A>T (p.Arg245Ter) c.*935A>T (n.*935A>T) c.973A>T (p.Arg325Ter) c.*800A>T (n.*800A>T) | |
8 | g.43122840G>A | CA371123259 | POMK | c.1016G>A (p.Arg339Lys) c.*812G>A (n.*812G>A) c.734G>A (p.Arg245Lys) c.*936G>A (n.*936G>A) c.974G>A (p.Arg325Lys) c.*801G>A (n.*801G>A) | COSMIC COSMIC |
8 | g.43122840G>C | CA371123257 | POMK | c.1016G>C (p.Arg339Thr) c.*812G>C (n.*812G>C) c.734G>C (p.Arg245Thr) c.*936G>C (n.*936G>C) c.974G>C (p.Arg325Thr) c.*801G>C (n.*801G>C) | |
8 | g.43122840G>T | CA371123261 | POMK | c.1016G>T (p.Arg339Ile) c.*812G>T (n.*812G>T) c.734G>T (p.Arg245Ile) c.*936G>T (n.*936G>T) c.974G>T (p.Arg325Ile) c.*801G>T (n.*801G>T) | |
8 | g.43122841A>C | CA371123263 | POMK | c.1017A>C (p.Arg339Ser) c.*813A>C (n.*813A>C) c.735A>C (p.Arg245Ser) c.*937A>C (n.*937A>C) c.975A>C (p.Arg325Ser) c.*802A>C (n.*802A>C) | |
8 | g.43122841A>G | CA460787614 | POMK | c.1017A>G (p.Arg339=) c.*813A>G (n.*813A>G) c.735A>G (p.Arg245=) c.*937A>G (n.*937A>G) c.975A>G (p.Arg325=) c.*802A>G (n.*802A>G) | |
8 | g.43122841A>T | CA371123264 | POMK | c.1017A>T (p.Arg339Ser) c.*813A>T (n.*813A>T) c.735A>T (p.Arg245Ser) c.*937A>T (n.*937A>T) c.975A>T (p.Arg325Ser) c.*802A>T (n.*802A>T) | |
8 | g.43122842G>A | CA371123267 | POMK | c.1018G>A (p.Asp340Asn) c.*814G>A (n.*814G>A) c.736G>A (p.Asp246Asn) c.*938G>A (n.*938G>A) c.976G>A (p.Asp326Asn) c.*803G>A (n.*803G>A) | |
8 | g.43122842G>C | CA371123269 | POMK | c.1018G>C (p.Asp340His) c.*814G>C (n.*814G>C) c.736G>C (p.Asp246His) c.*938G>C (n.*938G>C) c.976G>C (p.Asp326His) c.*803G>C (n.*803G>C) | |
8 | g.43122842G>T | CA371123271 | POMK | c.1018G>T (p.Asp340Tyr) c.*814G>T (n.*814G>T) c.736G>T (p.Asp246Tyr) c.*938G>T (n.*938G>T) c.976G>T (p.Asp326Tyr) c.*803G>T (n.*803G>T) | |
8 | g.43122843A>C | CA371123273 | POMK | c.1019A>C (p.Asp340Ala) c.*815A>C (n.*815A>C) c.737A>C (p.Asp246Ala) c.*939A>C (n.*939A>C) c.977A>C (p.Asp326Ala) c.*804A>C (n.*804A>C) | |
8 | g.43122843A>G | CA371123275 | POMK | c.1019A>G (p.Asp340Gly) c.*815A>G (n.*815A>G) c.737A>G (p.Asp246Gly) c.*939A>G (n.*939A>G) c.977A>G (p.Asp326Gly) c.*804A>G (n.*804A>G) | |
8 | g.43122843A>T | CA371123276 | POMK | c.1019A>T (p.Asp340Val) c.*815A>T (n.*815A>T) c.737A>T (p.Asp246Val) c.*939A>T (n.*939A>T) c.977A>T (p.Asp326Val) c.*804A>T (n.*804A>T) | |
8 | g.43122844T>A | CA371123279 | POMK | c.1020T>A (p.Asp340Glu) c.*816T>A (n.*816T>A) c.738T>A (p.Asp246Glu) c.*940T>A (n.*940T>A) c.978T>A (p.Asp326Glu) c.*805T>A (n.*805T>A) | |
8 | g.43122844T>C | CA460787615 | POMK | c.1020T>C (p.Asp340=) c.*816T>C (n.*816T>C) c.738T>C (p.Asp246=) c.*940T>C (n.*940T>C) c.978T>C (p.Asp326=) c.*805T>C (n.*805T>C) | |
8 | g.43122844T>G | CA371123281 | POMK | c.1020T>G (p.Asp340Glu) c.*816T>G (n.*816T>G) c.738T>G (p.Asp246Glu) c.*940T>G (n.*940T>G) c.978T>G (p.Asp326Glu) c.*805T>G (n.*805T>G) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.43122844T= | CA1779748293 | POMK | c.1020T= (p.Asp340=) c.*816T= (n.*816T=) c.738T= (p.Asp246=) c.*940T= (n.*940T=) c.978T= (p.Asp326=) c.*805T= (n.*805T=) | |
8 | g.43122845G>A | CA371123283 | POMK | c.1021G>A (p.Ala341Thr) c.*817G>A (n.*817G>A) c.739G>A (p.Ala247Thr) c.*941G>A (n.*941G>A) c.979G>A (p.Ala327Thr) c.*806G>A (n.*806G>A) | |
8 | g.43122845G>C | CA371123285 | POMK | c.1021G>C (p.Ala341Pro) c.*817G>C (n.*817G>C) c.739G>C (p.Ala247Pro) c.*941G>C (n.*941G>C) c.979G>C (p.Ala327Pro) c.*806G>C (n.*806G>C) | |
8 | g.43122845G>T | CA371123287 | POMK | c.1021G>T (p.Ala341Ser) c.*817G>T (n.*817G>T) c.739G>T (p.Ala247Ser) c.*941G>T (n.*941G>T) c.979G>T (p.Ala327Ser) c.*806G>T (n.*806G>T) | gnomAD v4 |