Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.93922931A>C | CA371694521 | PDP1 | c.872A>C (p.Asp291Ala) c.947A>C (p.Asp316Ala) c.926A>C (p.Asp309Ala) c.1034A>C (p.Asp345Ala) | |
8 | g.93922931A>G | CA371694523 | PDP1 | c.872A>G (p.Asp291Gly) c.947A>G (p.Asp316Gly) c.926A>G (p.Asp309Gly) c.1034A>G (p.Asp345Gly) | |
8 | g.93922931A>T | CA371694524 | PDP1 | c.872A>T (p.Asp291Val) c.947A>T (p.Asp316Val) c.926A>T (p.Asp309Val) c.1034A>T (p.Asp345Val) | |
8 | g.93922932T>A | CA371694525 | PDP1 | c.873T>A (p.Asp291Glu) c.948T>A (p.Asp316Glu) c.927T>A (p.Asp309Glu) c.1035T>A (p.Asp345Glu) | |
8 | g.93922932T>C | CA462118011 | PDP1 | c.873T>C (p.Asp291=) c.948T>C (p.Asp316=) c.927T>C (p.Asp309=) c.1035T>C (p.Asp345=) | gnomAD v4 |
8 | g.93922932T>G | CA371694527 | PDP1 | c.873T>G (p.Asp291Glu) c.948T>G (p.Asp316Glu) c.927T>G (p.Asp309Glu) c.1035T>G (p.Asp345Glu) | |
8 | g.93922933A>C | CA371694528 | PDP1 | c.874A>C (p.Ser292Arg) c.949A>C (p.Ser317Arg) c.928A>C (p.Ser310Arg) c.1036A>C (p.Ser346Arg) | |
8 | g.93922933A>G | CA371694529 | PDP1 | c.874A>G (p.Ser292Gly) c.949A>G (p.Ser317Gly) c.928A>G (p.Ser310Gly) c.1036A>G (p.Ser346Gly) | |
8 | g.93922933A>T | CA371694530 | PDP1 | c.874A>T (p.Ser292Cys) c.949A>T (p.Ser317Cys) c.928A>T (p.Ser310Cys) c.1036A>T (p.Ser346Cys) | |
8 | g.93922935_93922937del | CA2687927846 | PDP1 | c.876_878del (p.Ser292del) c.951_953del (p.Ser317del) c.930_932del (p.Ser310del) c.1038_1040del (p.Ser346del) | gnomAD v4 |
8 | g.93922934G>A | CA371694532 | PDP1 | c.875G>A (p.Ser292Asn) c.950G>A (p.Ser317Asn) c.929G>A (p.Ser310Asn) c.1037G>A (p.Ser346Asn) | |
8 | g.93922934G>C | CA371694533 | PDP1 | c.875G>C (p.Ser292Thr) c.950G>C (p.Ser317Thr) c.929G>C (p.Ser310Thr) c.1037G>C (p.Ser346Thr) | |
8 | g.93922934G>T | CA371694534 | PDP1 | c.875G>T (p.Ser292Ile) c.950G>T (p.Ser317Ile) c.929G>T (p.Ser310Ile) c.1037G>T (p.Ser346Ile) | |
8 | g.93922935C>A | CA371694536 | PDP1 | c.876C>A (p.Ser292Arg) c.951C>A (p.Ser317Arg) c.930C>A (p.Ser310Arg) c.1038C>A (p.Ser346Arg) | |
8 | g.93922935C>G | CA371694537 | PDP1 | c.876C>G (p.Ser292Arg) c.951C>G (p.Ser317Arg) c.930C>G (p.Ser310Arg) c.1038C>G (p.Ser346Arg) | |
8 | g.93922935C>T | CA462118014 | PDP1 | c.876C>T (p.Ser292=) c.951C>T (p.Ser317=) c.930C>T (p.Ser310=) c.1038C>T (p.Ser346=) | |
8 | g.93922936A>C | CA462118015 | PDP1 | c.877A>C (p.Arg293=) c.952A>C (p.Arg318=) c.931A>C (p.Arg311=) c.1039A>C (p.Arg347=) | |
8 | g.93922936A>G | CA371694539 | PDP1 | c.877A>G (p.Arg293Gly) c.952A>G (p.Arg318Gly) c.931A>G (p.Arg311Gly) c.1039A>G (p.Arg347Gly) | |
8 | g.93922936A>T | CA371694541 | PDP1 | c.877A>T (p.Arg293Ter) c.952A>T (p.Arg318Ter) c.931A>T (p.Arg311Ter) c.1039A>T (p.Arg347Ter) | |
8 | g.93922937G>A | CA4808753 | PDP1 | c.878G>A (p.Arg293Lys) c.953G>A (p.Arg318Lys) c.932G>A (p.Arg311Lys) c.1040G>A (p.Arg347Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.93922937G>C | CA371694543 | PDP1 | c.878G>C (p.Arg293Thr) c.953G>C (p.Arg318Thr) c.932G>C (p.Arg311Thr) c.1040G>C (p.Arg347Thr) | |
8 | g.93922937G= | CA1803280791 | PDP1 | c.878G= (p.Arg293=) c.953G= (p.Arg318=) c.932G= (p.Arg311=) c.1040G= (p.Arg347=) | |
8 | g.93922937G>T | CA371694544 | PDP1 | c.878G>T (p.Arg293Ile) c.953G>T (p.Arg318Ile) c.932G>T (p.Arg311Ile) c.1040G>T (p.Arg347Ile) | |
8 | g.93922938A>C | CA371694545 | PDP1 | c.879A>C (p.Arg293Ser) c.954A>C (p.Arg318Ser) c.933A>C (p.Arg311Ser) c.1041A>C (p.Arg347Ser) | |
8 | g.93922938A>G | CA462118018 | PDP1 | c.879A>G (p.Arg293=) c.954A>G (p.Arg318=) c.933A>G (p.Arg311=) c.1041A>G (p.Arg347=) | |
8 | g.93922938A>T | CA371694546 | PDP1 | c.879A>T (p.Arg293Ser) c.954A>T (p.Arg318Ser) c.933A>T (p.Arg311Ser) c.1041A>T (p.Arg347Ser) | |
8 | g.93922939G>A | CA371694548 | PDP1 | c.880G>A (p.Ala294Thr) c.955G>A (p.Ala319Thr) c.934G>A (p.Ala312Thr) c.1042G>A (p.Ala348Thr) | |
8 | g.93922939G>C | CA371694550 | PDP1 | c.880G>C (p.Ala294Pro) c.955G>C (p.Ala319Pro) c.934G>C (p.Ala312Pro) c.1042G>C (p.Ala348Pro) | |
8 | g.93922939G>T | CA371694551 | PDP1 | c.880G>T (p.Ala294Ser) c.955G>T (p.Ala319Ser) c.934G>T (p.Ala312Ser) c.1042G>T (p.Ala348Ser) | |
8 | g.93922940C>A | CA371694552 | PDP1 | c.881C>A (p.Ala294Asp) c.956C>A (p.Ala319Asp) c.935C>A (p.Ala312Asp) c.1043C>A (p.Ala348Asp) | |
8 | g.93922940C>G | CA371694554 | PDP1 | c.881C>G (p.Ala294Gly) c.956C>G (p.Ala319Gly) c.935C>G (p.Ala312Gly) c.1043C>G (p.Ala348Gly) | |
8 | g.93922940C>T | CA371694556 | PDP1 | c.881C>T (p.Ala294Val) c.956C>T (p.Ala319Val) c.935C>T (p.Ala312Val) c.1043C>T (p.Ala348Val) | |
8 | g.93922941C>A | CA462118020 | PDP1 | c.882C>A (p.Ala294=) c.957C>A (p.Ala319=) c.936C>A (p.Ala312=) c.1044C>A (p.Ala348=) | |
8 | g.93922941C>G | CA462118021 | PDP1 | c.882C>G (p.Ala294=) c.957C>G (p.Ala319=) c.936C>G (p.Ala312=) c.1044C>G (p.Ala348=) | |
8 | g.93922941C>T | CA462118022 | PDP1 | c.882C>T (p.Ala294=) c.957C>T (p.Ala319=) c.936C>T (p.Ala312=) c.1044C>T (p.Ala348=) | gnomAD v4 |
8 | g.93922942A= | CA1803280792 | PDP1 | c.883A= (p.Met295=) c.958A= (p.Met320=) c.937A= (p.Met313=) c.1045A= (p.Met349=) | |
8 | g.93922942A>C | CA371694558 | PDP1 | c.883A>C (p.Met295Leu) c.958A>C (p.Met320Leu) c.937A>C (p.Met313Leu) c.1045A>C (p.Met349Leu) | |
8 | g.93922942A>G | CA371694559 | PDP1 | c.883A>G (p.Met295Val) c.958A>G (p.Met320Val) c.937A>G (p.Met313Val) c.1045A>G (p.Met349Val) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.93922942A>T | CA371694557 | PDP1 | c.883A>T (p.Met295Leu) c.958A>T (p.Met320Leu) c.937A>T (p.Met313Leu) c.1045A>T (p.Met349Leu) | |
8 | g.93922943T>A | CA371694561 | PDP1 | c.884T>A (p.Met295Lys) c.959T>A (p.Met320Lys) c.938T>A (p.Met313Lys) c.1046T>A (p.Met349Lys) | |
8 | g.93922943T>C | CA371694564 | PDP1 | c.884T>C (p.Met295Thr) c.959T>C (p.Met320Thr) c.938T>C (p.Met313Thr) c.1046T>C (p.Met349Thr) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.93922943T>G | CA371694562 | PDP1 | c.884T>G (p.Met295Arg) c.959T>G (p.Met320Arg) c.938T>G (p.Met313Arg) c.1046T>G (p.Met349Arg) | |
8 | g.93922943T= | CA1803280793 | PDP1 | c.884T= (p.Met295=) c.959T= (p.Met320=) c.938T= (p.Met313=) c.1046T= (p.Met349=) | |
8 | g.93922944G>A | CA371694566 | PDP1 | c.885G>A (p.Met295Ile) c.960G>A (p.Met320Ile) c.939G>A (p.Met313Ile) c.1047G>A (p.Met349Ile) | |
8 | g.93922944G>C | CA371694567 | PDP1 | c.885G>C (p.Met295Ile) c.960G>C (p.Met320Ile) c.939G>C (p.Met313Ile) c.1047G>C (p.Met349Ile) | |
8 | g.93922944G>T | CA371694569 | PDP1 | c.885G>T (p.Met295Ile) c.960G>T (p.Met320Ile) c.939G>T (p.Met313Ile) c.1047G>T (p.Met349Ile) | |
8 | g.93922945C>A | CA371694571 | PDP1 | c.886C>A (p.Leu296Met) c.961C>A (p.Leu321Met) c.940C>A (p.Leu314Met) c.1048C>A (p.Leu350Met) | |
8 | g.93922945C= | CA1803280794 | PDP1 | c.886C= (p.Leu296=) c.961C= (p.Leu321=) c.940C= (p.Leu314=) c.1048C= (p.Leu350=) | |
8 | g.93922945C>G | CA181375745 | PDP1 | c.886C>G (p.Leu296Val) c.961C>G (p.Leu321Val) c.940C>G (p.Leu314Val) c.1048C>G (p.Leu350Val) | dbSNP gnomAD v4 |
8 | g.93922945C>T | CA462118026 | PDP1 | c.886C>T (p.Leu296=) c.961C>T (p.Leu321=) c.940C>T (p.Leu314=) c.1048C>T (p.Leu350=) | |
8 | g.93922946T>A | CA371694575 | PDP1 | c.887T>A (p.Leu296Gln) c.962T>A (p.Leu321Gln) c.941T>A (p.Leu314Gln) c.1049T>A (p.Leu350Gln) | |
8 | g.93922946T>C | CA371694574 | PDP1 | c.887T>C (p.Leu296Pro) c.962T>C (p.Leu321Pro) c.941T>C (p.Leu314Pro) c.1049T>C (p.Leu350Pro) | |
8 | g.93922946T>G | CA371694573 | PDP1 | c.887T>G (p.Leu296Arg) c.962T>G (p.Leu321Arg) c.941T>G (p.Leu314Arg) c.1049T>G (p.Leu350Arg) | gnomAD v4 |
8 | g.93922947G>A | CA462118030 | PDP1 | c.888G>A (p.Leu296=) c.963G>A (p.Leu321=) c.942G>A (p.Leu314=) c.1050G>A (p.Leu350=) | |
8 | g.93922947G>C | CA462118031 | PDP1 | c.888G>C (p.Leu296=) c.963G>C (p.Leu321=) c.942G>C (p.Leu314=) c.1050G>C (p.Leu350=) | |
8 | g.93922947G>T | CA462118032 | PDP1 | c.888G>T (p.Leu296=) c.963G>T (p.Leu321=) c.942G>T (p.Leu314=) c.1050G>T (p.Leu350=) | |
8 | g.93922948G>A | CA371694577 | PDP1 | c.889G>A (p.Gly297Ser) c.964G>A (p.Gly322Ser) c.943G>A (p.Gly315Ser) c.1051G>A (p.Gly351Ser) | |
8 | g.93922948G>C | CA371694579 | PDP1 | c.889G>C (p.Gly297Arg) c.964G>C (p.Gly322Arg) c.943G>C (p.Gly315Arg) c.1051G>C (p.Gly351Arg) | |
8 | g.93922948G>T | CA371694580 | PDP1 | c.889G>T (p.Gly297Cys) c.964G>T (p.Gly322Cys) c.943G>T (p.Gly315Cys) c.1051G>T (p.Gly351Cys) | dbSNP |
8 | g.93922949G>A | CA371694582 | PDP1 | c.890G>A (p.Gly297Asp) c.965G>A (p.Gly322Asp) c.944G>A (p.Gly315Asp) c.1052G>A (p.Gly351Asp) | |
8 | g.93922949G>C | CA371694583 | PDP1 | c.890G>C (p.Gly297Ala) c.965G>C (p.Gly322Ala) c.944G>C (p.Gly315Ala) c.1052G>C (p.Gly351Ala) | |
8 | g.93922949G>T | CA371694585 | PDP1 | c.890G>T (p.Gly297Val) c.965G>T (p.Gly322Val) c.944G>T (p.Gly315Val) c.1052G>T (p.Gly351Val) | |
8 | g.93922950T>A | CA462118034 | PDP1 | c.891T>A (p.Gly297=) c.966T>A (p.Gly322=) c.945T>A (p.Gly315=) c.1053T>A (p.Gly351=) | |
8 | g.93922950T>C | CA462118036 | PDP1 | c.891T>C (p.Gly297=) c.966T>C (p.Gly322=) c.945T>C (p.Gly315=) c.1053T>C (p.Gly351=) | |
8 | g.93922950T>G | CA462118037 | PDP1 | c.891T>G (p.Gly297=) c.966T>G (p.Gly322=) c.945T>G (p.Gly315=) c.1053T>G (p.Gly351=) | dbSNP gnomAD v4 |
8 | g.93922950T= | CA1803280795 | PDP1 | c.891T= (p.Gly297=) c.966T= (p.Gly322=) c.945T= (p.Gly315=) c.1053T= (p.Gly351=) | |
8 | g.93922951G>A | CA4808754 | PDP1 | c.892G>A (p.Val298Met) c.967G>A (p.Val323Met) c.946G>A (p.Val316Met) c.1054G>A (p.Val352Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.93922951G>C | CA371694588 | PDP1 | c.892G>C (p.Val298Leu) c.967G>C (p.Val323Leu) c.946G>C (p.Val316Leu) c.1054G>C (p.Val352Leu) | |
8 | g.93922951G= | CA1803280796 | PDP1 | c.892G= (p.Val298=) c.967G= (p.Val323=) c.946G= (p.Val316=) c.1054G= (p.Val352=) | |
8 | g.93922951G>T | CA371694589 | PDP1 | c.892G>T (p.Val298Leu) c.967G>T (p.Val323Leu) c.946G>T (p.Val316Leu) c.1054G>T (p.Val352Leu) | |
8 | g.93922952T>A | CA371694592 | PDP1 | c.893T>A (p.Val298Glu) c.968T>A (p.Val323Glu) c.947T>A (p.Val316Glu) c.1055T>A (p.Val352Glu) | |
8 | g.93922952T>C | CA371694595 | PDP1 | c.893T>C (p.Val298Ala) c.968T>C (p.Val323Ala) c.947T>C (p.Val316Ala) c.1055T>C (p.Val352Ala) | |
8 | g.93922952T>G | CA371694597 | PDP1 | c.893T>G (p.Val298Gly) c.968T>G (p.Val323Gly) c.947T>G (p.Val316Gly) c.1055T>G (p.Val352Gly) | |
8 | g.93922953G>A | CA462118038 | PDP1 | c.894G>A (p.Val298=) c.969G>A (p.Val323=) c.948G>A (p.Val316=) c.1056G>A (p.Val352=) | |
8 | g.93922953G>C | CA462118040 | PDP1 | c.894G>C (p.Val298=) c.969G>C (p.Val323=) c.948G>C (p.Val316=) c.1056G>C (p.Val352=) | |
8 | g.93922953G= | CA1803280797 | PDP1 | c.894G= (p.Val298=) c.969G= (p.Val323=) c.948G= (p.Val316=) c.1056G= (p.Val352=) | |
8 | g.93922953G>T | CA462118041 | PDP1 | c.894G>T (p.Val298=) c.969G>T (p.Val323=) c.948G>T (p.Val316=) c.1056G>T (p.Val352=) | dbSNP |
8 | g.93922954C>A | CA371694598 | PDP1 | c.895C>A (p.Gln299Lys) c.970C>A (p.Gln324Lys) c.949C>A (p.Gln317Lys) c.1057C>A (p.Gln353Lys) | |
8 | g.93922954C>G | CA371694599 | PDP1 | c.895C>G (p.Gln299Glu) c.970C>G (p.Gln324Glu) c.949C>G (p.Gln317Glu) c.1057C>G (p.Gln353Glu) | |
8 | g.93922954C>T | CA371694601 | PDP1 | c.895C>T (p.Gln299Ter) c.970C>T (p.Gln324Ter) c.949C>T (p.Gln317Ter) c.1057C>T (p.Gln353Ter) | |
8 | g.93922955A>C | CA371694603 | PDP1 | c.896A>C (p.Gln299Pro) c.971A>C (p.Gln324Pro) c.950A>C (p.Gln317Pro) c.1058A>C (p.Gln353Pro) | |
8 | g.93922955A>G | CA371694605 | PDP1 | c.896A>G (p.Gln299Arg) c.971A>G (p.Gln324Arg) c.950A>G (p.Gln317Arg) c.1058A>G (p.Gln353Arg) | gnomAD v4 |
8 | g.93922955A>T | CA371694608 | PDP1 | c.896A>T (p.Gln299Leu) c.971A>T (p.Gln324Leu) c.950A>T (p.Gln317Leu) c.1058A>T (p.Gln353Leu) | |
8 | g.93922956G>A | CA4808755 | PDP1 | c.897G>A (p.Gln299=) c.972G>A (p.Gln324=) c.951G>A (p.Gln317=) c.1059G>A (p.Gln353=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.93922956G>C | CA371694610 | PDP1 | c.897G>C (p.Gln299His) c.972G>C (p.Gln324His) c.951G>C (p.Gln317His) c.1059G>C (p.Gln353His) | |
8 | g.93922956G= | CA1803280798 | PDP1 | c.897G= (p.Gln299=) c.972G= (p.Gln324=) c.951G= (p.Gln317=) c.1059G= (p.Gln353=) | |
8 | g.93922956G>T | CA371694615 | PDP1 | c.897G>T (p.Gln299His) c.972G>T (p.Gln324His) c.951G>T (p.Gln317His) c.1059G>T (p.Gln353His) | dbSNP |
8 | g.93922957G>A | CA371694616 | PDP1 | c.898G>A (p.Glu300Lys) c.973G>A (p.Glu325Lys) c.952G>A (p.Glu318Lys) c.1060G>A (p.Glu354Lys) | |
8 | g.93922957G>C | CA181375752 | PDP1 | c.898G>C (p.Glu300Gln) c.973G>C (p.Glu325Gln) c.952G>C (p.Glu318Gln) c.1060G>C (p.Glu354Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.93922957G= | CA1803280799 | PDP1 | c.898G= (p.Glu300=) c.973G= (p.Glu325=) c.952G= (p.Glu318=) c.1060G= (p.Glu354=) | |
8 | g.93922957G>T | CA371694617 | PDP1 | c.898G>T (p.Glu300Ter) c.973G>T (p.Glu325Ter) c.952G>T (p.Glu318Ter) c.1060G>T (p.Glu354Ter) | |
8 | g.93922958A>C | CA371694618 | PDP1 | c.899A>C (p.Glu300Ala) c.974A>C (p.Glu325Ala) c.953A>C (p.Glu318Ala) c.1061A>C (p.Glu354Ala) | |
8 | g.93922958A>G | CA371694620 | PDP1 | c.899A>G (p.Glu300Gly) c.974A>G (p.Glu325Gly) c.953A>G (p.Glu318Gly) c.1061A>G (p.Glu354Gly) | |
8 | g.93922958A>T | CA371694622 | PDP1 | c.899A>T (p.Glu300Val) c.974A>T (p.Glu325Val) c.953A>T (p.Glu318Val) c.1061A>T (p.Glu354Val) | |
8 | g.93922959A= | CA1803280800 | PDP1 | c.900A= (p.Glu300=) c.975A= (p.Glu325=) c.954A= (p.Glu318=) c.1062A= (p.Glu354=) | |
8 | g.93922959A>C | CA371694623 | PDP1 | c.900A>C (p.Glu300Asp) c.975A>C (p.Glu325Asp) c.954A>C (p.Glu318Asp) c.1062A>C (p.Glu354Asp) | |
8 | g.93922959A>G | CA4808756 | PDP1 | c.900A>G (p.Glu300=) c.975A>G (p.Glu325=) c.954A>G (p.Glu318=) c.1062A>G (p.Glu354=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.93922959A>T | CA371694631 | PDP1 | c.900A>T (p.Glu300Asp) c.975A>T (p.Glu325Asp) c.954A>T (p.Glu318Asp) c.1062A>T (p.Glu354Asp) | |
8 | g.93922960G>A | CA371694634 | PDP1 | c.901G>A (p.Glu301Lys) c.976G>A (p.Glu326Lys) c.955G>A (p.Glu319Lys) c.1063G>A (p.Glu355Lys) | |
8 | g.93922960G>C | CA371694635 | PDP1 | c.901G>C (p.Glu301Gln) c.976G>C (p.Glu326Gln) c.955G>C (p.Glu319Gln) c.1063G>C (p.Glu355Gln) | |
8 | g.93922960G>T | CA371694638 | PDP1 | c.901G>T (p.Glu301Ter) c.976G>T (p.Glu326Ter) c.955G>T (p.Glu319Ter) c.1063G>T (p.Glu355Ter) | |
8 | g.93922961A>C | CA371694639 | PDP1 | c.902A>C (p.Glu301Ala) c.977A>C (p.Glu326Ala) c.956A>C (p.Glu319Ala) c.1064A>C (p.Glu355Ala) | |
8 | g.93922961A>G | CA371694642 | PDP1 | c.902A>G (p.Glu301Gly) c.977A>G (p.Glu326Gly) c.956A>G (p.Glu319Gly) c.1064A>G (p.Glu355Gly) | |
8 | g.93922961A>T | CA371694645 | PDP1 | c.902A>T (p.Glu301Val) c.977A>T (p.Glu326Val) c.956A>T (p.Glu319Val) c.1064A>T (p.Glu355Val) | |
8 | g.93922962G>A | CA462118045 | PDP1 | c.903G>A (p.Glu301=) c.978G>A (p.Glu326=) c.957G>A (p.Glu319=) c.1065G>A (p.Glu355=) | |
8 | g.93922962G>C | CA371694648 | PDP1 | c.903G>C (p.Glu301Asp) c.978G>C (p.Glu326Asp) c.957G>C (p.Glu319Asp) c.1065G>C (p.Glu355Asp) | |
8 | g.93922962G>T | CA371694646 | PDP1 | c.903G>T (p.Glu301Asp) c.978G>T (p.Glu326Asp) c.957G>T (p.Glu319Asp) c.1065G>T (p.Glu355Asp) | |
8 | g.93922963G>A | CA371694650 | PDP1 | c.904G>A (p.Asp302Asn) c.979G>A (p.Asp327Asn) c.958G>A (p.Asp320Asn) c.1066G>A (p.Asp356Asn) | |
8 | g.93922963G>C | CA371694652 | PDP1 | c.904G>C (p.Asp302His) c.979G>C (p.Asp327His) c.958G>C (p.Asp320His) c.1066G>C (p.Asp356His) | |
8 | g.93922963G>T | CA371694653 | PDP1 | c.904G>T (p.Asp302Tyr) c.979G>T (p.Asp327Tyr) c.958G>T (p.Asp320Tyr) c.1066G>T (p.Asp356Tyr) | |
8 | g.93922964A= | CA1803280801 | PDP1 | c.905A= (p.Asp302=) c.980A= (p.Asp327=) c.959A= (p.Asp320=) c.1067A= (p.Asp356=) | |
8 | g.93922964A>C | CA371694656 | PDP1 | c.905A>C (p.Asp302Ala) c.980A>C (p.Asp327Ala) c.959A>C (p.Asp320Ala) c.1067A>C (p.Asp356Ala) | |
8 | g.93922964A>G | CA371694658 | PDP1 | c.905A>G (p.Asp302Gly) c.980A>G (p.Asp327Gly) c.959A>G (p.Asp320Gly) c.1067A>G (p.Asp356Gly) | ClinVar |
8 | g.93922964A>T | CA371694662 | PDP1 | c.905A>T (p.Asp302Val) c.980A>T (p.Asp327Val) c.959A>T (p.Asp320Val) c.1067A>T (p.Asp356Val) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.93922965C>A | CA371694663 | PDP1 | c.906C>A (p.Asp302Glu) c.981C>A (p.Asp327Glu) c.960C>A (p.Asp320Glu) c.1068C>A (p.Asp356Glu) | |
8 | g.93922965C= | CA1803280802 | PDP1 | c.906C= (p.Asp302=) c.981C= (p.Asp327=) c.960C= (p.Asp320=) c.1068C= (p.Asp356=) | |
8 | g.93922965C>G | CA371694665 | PDP1 | c.906C>G (p.Asp302Glu) c.981C>G (p.Asp327Glu) c.960C>G (p.Asp320Glu) c.1068C>G (p.Asp356Glu) | |
8 | g.93922965C>T | CA292760 | PDP1 | c.906C>T (p.Asp302=) c.981C>T (p.Asp327=) c.960C>T (p.Asp320=) c.1068C>T (p.Asp356=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.93922966G>A | CA371694670 | PDP1 | c.907G>A (p.Gly303Ser) c.982G>A (p.Gly328Ser) c.961G>A (p.Gly321Ser) c.1069G>A (p.Gly357Ser) | dbSNP gnomAD v4 COSMIC COSMIC |
8 | g.93922966G>C | CA371694672 | PDP1 | c.907G>C (p.Gly303Arg) c.982G>C (p.Gly328Arg) c.961G>C (p.Gly321Arg) c.1069G>C (p.Gly357Arg) | |
8 | g.93922966G>T | CA371694675 | PDP1 | c.907G>T (p.Gly303Cys) c.982G>T (p.Gly328Cys) c.961G>T (p.Gly321Cys) c.1069G>T (p.Gly357Cys) | |
8 | g.93922967G>A | CA371694683 | PDP1 | c.908G>A (p.Gly303Asp) c.983G>A (p.Gly328Asp) c.962G>A (p.Gly321Asp) c.1070G>A (p.Gly357Asp) | COSMIC COSMIC |
8 | g.93922967G>C | CA371694681 | PDP1 | c.908G>C (p.Gly303Ala) c.983G>C (p.Gly328Ala) c.962G>C (p.Gly321Ala) c.1070G>C (p.Gly357Ala) | |
8 | g.93922967G>T | CA371694678 | PDP1 | c.908G>T (p.Gly303Val) c.983G>T (p.Gly328Val) c.962G>T (p.Gly321Val) c.1070G>T (p.Gly357Val) | |
8 | g.93922968C>A | CA462118048 | PDP1 | c.909C>A (p.Gly303=) c.984C>A (p.Gly328=) c.963C>A (p.Gly321=) c.1071C>A (p.Gly357=) | |
8 | g.93922968C= | CA1803280803 | PDP1 | c.909C= (p.Gly303=) c.984C= (p.Gly328=) c.963C= (p.Gly321=) c.1071C= (p.Gly357=) | |
8 | g.93922968C>G | CA462118049 | PDP1 | c.909C>G (p.Gly303=) c.984C>G (p.Gly328=) c.963C>G (p.Gly321=) c.1071C>G (p.Gly357=) | |
8 | g.93922968C>T | CA4808757 | PDP1 | c.909C>T (p.Gly303=) c.984C>T (p.Gly328=) c.963C>T (p.Gly321=) c.1071C>T (p.Gly357=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
8 | g.93922969T>A | CA371694691 | PDP1 | c.910T>A (p.Ser304Thr) c.985T>A (p.Ser329Thr) c.964T>A (p.Ser322Thr) c.1072T>A (p.Ser358Thr) | |
8 | g.93922969T>C | CA371694687 | PDP1 | c.910T>C (p.Ser304Pro) c.985T>C (p.Ser329Pro) c.964T>C (p.Ser322Pro) c.1072T>C (p.Ser358Pro) | |
8 | g.93922969T>G | CA371694689 | PDP1 | c.910T>G (p.Ser304Ala) c.985T>G (p.Ser329Ala) c.964T>G (p.Ser322Ala) c.1072T>G (p.Ser358Ala) | |
8 | g.93922970C>A | CA371694693 | PDP1 | c.911C>A (p.Ser304Ter) c.986C>A (p.Ser329Ter) c.965C>A (p.Ser322Ter) c.1073C>A (p.Ser358Ter) | |
8 | g.93922970C>G | CA371694696 | PDP1 | c.911C>G (p.Ser304Ter) c.986C>G (p.Ser329Ter) c.965C>G (p.Ser322Ter) c.1073C>G (p.Ser358Ter) | |
8 | g.93922970C>T | CA371694699 | PDP1 | c.911C>T (p.Ser304Leu) c.986C>T (p.Ser329Leu) c.965C>T (p.Ser322Leu) c.1073C>T (p.Ser358Leu) | gnomAD v4 COSMIC COSMIC |
8 | g.93922971A>C | CA462118051 | PDP1 | c.912A>C (p.Ser304=) c.987A>C (p.Ser329=) c.966A>C (p.Ser322=) c.1074A>C (p.Ser358=) | |
8 | g.93922971A>G | CA462118052 | PDP1 | c.912A>G (p.Ser304=) c.987A>G (p.Ser329=) c.966A>G (p.Ser322=) c.1074A>G (p.Ser358=) | |
8 | g.93922971A>T | CA462118053 | PDP1 | c.912A>T (p.Ser304=) c.987A>T (p.Ser329=) c.966A>T (p.Ser322=) c.1074A>T (p.Ser358=) | |
8 | g.93922972T>A | CA371694700 | PDP1 | c.913T>A (p.Trp305Arg) c.988T>A (p.Trp330Arg) c.967T>A (p.Trp323Arg) c.1075T>A (p.Trp359Arg) | |
8 | g.93922972T>C | CA4808758 | PDP1 | c.913T>C (p.Trp305Arg) c.988T>C (p.Trp330Arg) c.967T>C (p.Trp323Arg) c.1075T>C (p.Trp359Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.93922972T>G | CA371694703 | PDP1 | c.913T>G (p.Trp305Gly) c.988T>G (p.Trp330Gly) c.967T>G (p.Trp323Gly) c.1075T>G (p.Trp359Gly) | |
8 | g.93922972T= | CA1803280804 | PDP1 | c.913T= (p.Trp305=) c.988T= (p.Trp330=) c.967T= (p.Trp323=) c.1075T= (p.Trp359=) | |
8 | g.93922973G>A | CA371694706 | PDP1 | c.914G>A (p.Trp305Ter) c.989G>A (p.Trp330Ter) c.968G>A (p.Trp323Ter) c.1076G>A (p.Trp359Ter) | |
8 | g.93922973G>C | CA371694708 | PDP1 | c.914G>C (p.Trp305Ser) c.989G>C (p.Trp330Ser) c.968G>C (p.Trp323Ser) c.1076G>C (p.Trp359Ser) | gnomAD v4 |
8 | g.93922973G>T | CA371694709 | PDP1 | c.914G>T (p.Trp305Leu) c.989G>T (p.Trp330Leu) c.968G>T (p.Trp323Leu) c.1076G>T (p.Trp359Leu) | |
8 | g.93922974G>A | CA371694715 | PDP1 | c.915G>A (p.Trp305Ter) c.990G>A (p.Trp330Ter) c.969G>A (p.Trp323Ter) c.1077G>A (p.Trp359Ter) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.93922974G>C | CA371694713 | PDP1 | c.915G>C (p.Trp305Cys) c.990G>C (p.Trp330Cys) c.969G>C (p.Trp323Cys) c.1077G>C (p.Trp359Cys) | |
8 | g.93922974G= | CA1803280805 | PDP1 | c.915G= (p.Trp305=) c.990G= (p.Trp330=) c.969G= (p.Trp323=) c.1077G= (p.Trp359=) | |
8 | g.93922974G>T | CA371694711 | PDP1 | c.915G>T (p.Trp305Cys) c.990G>T (p.Trp330Cys) c.969G>T (p.Trp323Cys) c.1077G>T (p.Trp359Cys) | |
8 | g.93922975T>A | CA371694717 | PDP1 | c.916T>A (p.Ser306Thr) c.991T>A (p.Ser331Thr) c.970T>A (p.Ser324Thr) c.1078T>A (p.Ser360Thr) | |
8 | g.93922975T>C | CA371694718 | PDP1 | c.916T>C (p.Ser306Pro) c.991T>C (p.Ser331Pro) c.970T>C (p.Ser324Pro) c.1078T>C (p.Ser360Pro) | |
8 | g.93922975T>G | CA371694720 | PDP1 | c.916T>G (p.Ser306Ala) c.991T>G (p.Ser331Ala) c.970T>G (p.Ser324Ala) c.1078T>G (p.Ser360Ala) | |
8 | g.93922976C>A | CA371694724 | PDP1 | c.917C>A (p.Ser306Ter) c.992C>A (p.Ser331Ter) c.971C>A (p.Ser324Ter) c.1079C>A (p.Ser360Ter) | |
8 | g.93922976C>G | CA371694726 | PDP1 | c.917C>G (p.Ser306Ter) c.992C>G (p.Ser331Ter) c.971C>G (p.Ser324Ter) c.1079C>G (p.Ser360Ter) | |
8 | g.93922976C>T | CA371694728 | PDP1 | c.917C>T (p.Ser306Leu) c.992C>T (p.Ser331Leu) c.971C>T (p.Ser324Leu) c.1079C>T (p.Ser360Leu) | |
8 | g.93922977A>C | CA462118055 | PDP1 | c.918A>C (p.Ser306=) c.993A>C (p.Ser331=) c.972A>C (p.Ser324=) c.1080A>C (p.Ser360=) | gnomAD v4 |
8 | g.93922977A>G | CA462118057 | PDP1 | c.918A>G (p.Ser306=) c.993A>G (p.Ser331=) c.972A>G (p.Ser324=) c.1080A>G (p.Ser360=) | gnomAD v4 |
8 | g.93922977A>T | CA462118060 | PDP1 | c.918A>T (p.Ser306=) c.993A>T (p.Ser331=) c.972A>T (p.Ser324=) c.1080A>T (p.Ser360=) | |
8 | g.93922978G>A | CA371694731 | PDP1 | c.919G>A (p.Ala307Thr) c.994G>A (p.Ala332Thr) c.973G>A (p.Ala325Thr) c.1081G>A (p.Ala361Thr) | |
8 | g.93922978G>C | CA371694733 | PDP1 | c.919G>C (p.Ala307Pro) c.994G>C (p.Ala332Pro) c.973G>C (p.Ala325Pro) c.1081G>C (p.Ala361Pro) | |
8 | g.93922978G= | CA1803280806 | PDP1 | c.919G= (p.Ala307=) c.994G= (p.Ala332=) c.973G= (p.Ala325=) c.1081G= (p.Ala361=) | |
8 | g.93922978G>T | CA4808759 | PDP1 | c.919G>T (p.Ala307Ser) c.994G>T (p.Ala332Ser) c.973G>T (p.Ala325Ser) c.1081G>T (p.Ala361Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.93922979C>A | CA371694737 | PDP1 | c.920C>A (p.Ala307Glu) c.995C>A (p.Ala332Glu) c.974C>A (p.Ala325Glu) c.1082C>A (p.Ala361Glu) | |
8 | g.93922979C>G | CA371694738 | PDP1 | c.920C>G (p.Ala307Gly) c.995C>G (p.Ala332Gly) c.974C>G (p.Ala325Gly) c.1082C>G (p.Ala361Gly) | |
8 | g.93922979C>T | CA371694739 | PDP1 | c.920C>T (p.Ala307Val) c.995C>T (p.Ala332Val) c.974C>T (p.Ala325Val) c.1082C>T (p.Ala361Val) | |
8 | g.93922980A>C | CA462118067 | PDP1 | c.921A>C (p.Ala307=) c.996A>C (p.Ala332=) c.975A>C (p.Ala325=) c.1083A>C (p.Ala361=) | |
8 | g.93922980A>G | CA462118066 | PDP1 | c.921A>G (p.Ala307=) c.996A>G (p.Ala332=) c.975A>G (p.Ala325=) c.1083A>G (p.Ala361=) | |
8 | g.93922980A>T | CA462118064 | PDP1 | c.921A>T (p.Ala307=) c.996A>T (p.Ala332=) c.975A>T (p.Ala325=) c.1083A>T (p.Ala361=) | |
8 | g.93922981G>A | CA371694742 | PDP1 | c.922G>A (p.Val308Ile) c.997G>A (p.Val333Ile) c.976G>A (p.Val326Ile) c.1084G>A (p.Val362Ile) | |
8 | g.93922981G>C | CA371694744 | PDP1 | c.922G>C (p.Val308Leu) c.997G>C (p.Val333Leu) c.976G>C (p.Val326Leu) c.1084G>C (p.Val362Leu) | |
8 | g.93922981G>T | CA371694740 | PDP1 | c.922G>T (p.Val308Phe) c.997G>T (p.Val333Phe) c.976G>T (p.Val326Phe) c.1084G>T (p.Val362Phe) | |
8 | g.93922982T>A | CA371694746 | PDP1 | c.923T>A (p.Val308Asp) c.998T>A (p.Val333Asp) c.977T>A (p.Val326Asp) c.1085T>A (p.Val362Asp) | |
8 | g.93922982T>C | CA371694747 | PDP1 | c.923T>C (p.Val308Ala) c.998T>C (p.Val333Ala) c.977T>C (p.Val326Ala) c.1085T>C (p.Val362Ala) | gnomAD v4 |
8 | g.93922982T>G | CA371694749 | PDP1 | c.923T>G (p.Val308Gly) c.998T>G (p.Val333Gly) c.977T>G (p.Val326Gly) c.1085T>G (p.Val362Gly) | |
8 | g.93922983C>A | CA462118073 | PDP1 | c.924C>A (p.Val308=) c.999C>A (p.Val333=) c.978C>A (p.Val326=) c.1086C>A (p.Val362=) | |
8 | g.93922983C>G | CA462118072 | PDP1 | c.924C>G (p.Val308=) c.999C>G (p.Val333=) c.978C>G (p.Val326=) c.1086C>G (p.Val362=) | gnomAD v4 |
8 | g.93922983C>T | CA462118071 | PDP1 | c.924C>T (p.Val308=) c.999C>T (p.Val333=) c.978C>T (p.Val326=) c.1086C>T (p.Val362=) | |
8 | g.93922984A>C | CA371694751 | PDP1 | c.925A>C (p.Thr309Pro) c.1000A>C (p.Thr334Pro) c.979A>C (p.Thr327Pro) c.1087A>C (p.Thr363Pro) | |
8 | g.93922984A>G | CA371694753 | PDP1 | c.925A>G (p.Thr309Ala) c.1000A>G (p.Thr334Ala) c.979A>G (p.Thr327Ala) c.1087A>G (p.Thr363Ala) | |
8 | g.93922984A>T | CA371694755 | PDP1 | c.925A>T (p.Thr309Ser) c.1000A>T (p.Thr334Ser) c.979A>T (p.Thr327Ser) c.1087A>T (p.Thr363Ser) | |
8 | g.93922984dup | CA2687927849 | PDP1 | c.925dup (p.Thr309AsnfsTer4) c.1000dup (p.Thr334AsnfsTer4) c.979dup (p.Thr327AsnfsTer4) c.1087dup (p.Thr363AsnfsTer4) | gnomAD v4 |
8 | g.93922985C>A | CA371694756 | PDP1 | c.926C>A (p.Thr309Lys) c.1001C>A (p.Thr334Lys) c.980C>A (p.Thr327Lys) c.1088C>A (p.Thr363Lys) | |
8 | g.93922985C= | CA1803280807 | PDP1 | c.926C= (p.Thr309=) c.1001C= (p.Thr334=) c.980C= (p.Thr327=) c.1088C= (p.Thr363=) | |
8 | g.93922985C>G | CA371694757 | PDP1 | c.926C>G (p.Thr309Arg) c.1001C>G (p.Thr334Arg) c.980C>G (p.Thr327Arg) c.1088C>G (p.Thr363Arg) | |
8 | g.93922985C>T | CA4808760 | PDP1 | c.926C>T (p.Thr309Met) c.1001C>T (p.Thr334Met) c.980C>T (p.Thr327Met) c.1088C>T (p.Thr363Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.93922986G>A | CA4808761 | PDP1 | c.927G>A (p.Thr309=) c.1002G>A (p.Thr334=) c.981G>A (p.Thr327=) c.1089G>A (p.Thr363=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.93922986G>C | CA462118081 | PDP1 | c.927G>C (p.Thr309=) c.1002G>C (p.Thr334=) c.981G>C (p.Thr327=) c.1089G>C (p.Thr363=) | |
8 | g.93922986G= | CA1803280808 | PDP1 | c.927G= (p.Thr309=) c.1002G= (p.Thr334=) c.981G= (p.Thr327=) c.1089G= (p.Thr363=) | |
8 | g.93922986G>T | CA462118078 | PDP1 | c.927G>T (p.Thr309=) c.1002G>T (p.Thr334=) c.981G>T (p.Thr327=) c.1089G>T (p.Thr363=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.93922987C>A | CA371694758 | PDP1 | c.928C>A (p.Leu310Met) c.1003C>A (p.Leu335Met) c.982C>A (p.Leu328Met) c.1090C>A (p.Leu364Met) | |
8 | g.93922987C>G | CA371694760 | PDP1 | c.928C>G (p.Leu310Val) c.1003C>G (p.Leu335Val) c.982C>G (p.Leu328Val) c.1090C>G (p.Leu364Val) | |
8 | g.93922987C>T | CA462118084 | PDP1 | c.928C>T (p.Leu310=) c.1003C>T (p.Leu335=) c.982C>T (p.Leu328=) c.1090C>T (p.Leu364=) | gnomAD v4 |
8 | g.93922988T>A | CA371694764 | PDP1 | c.929T>A (p.Leu310Gln) c.1004T>A (p.Leu335Gln) c.983T>A (p.Leu328Gln) c.1091T>A (p.Leu364Gln) | |
8 | g.93922988T>C | CA371694765 | PDP1 | c.929T>C (p.Leu310Pro) c.1004T>C (p.Leu335Pro) c.983T>C (p.Leu328Pro) c.1091T>C (p.Leu364Pro) | |
8 | g.93922988T>G | CA371694762 | PDP1 | c.929T>G (p.Leu310Arg) c.1004T>G (p.Leu335Arg) c.983T>G (p.Leu328Arg) c.1091T>G (p.Leu364Arg) | |
8 | g.93922989G>A | CA462118086 | PDP1 | c.930G>A (p.Leu310=) c.1005G>A (p.Leu335=) c.984G>A (p.Leu328=) c.1092G>A (p.Leu364=) | gnomAD v4 |
8 | g.93922989G>C | CA462118087 | PDP1 | c.930G>C (p.Leu310=) c.1005G>C (p.Leu335=) c.984G>C (p.Leu328=) c.1092G>C (p.Leu364=) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.93922989G= | CA1803280809 | PDP1 | c.930G= (p.Leu310=) c.1005G= (p.Leu335=) c.984G= (p.Leu328=) c.1092G= (p.Leu364=) | |
8 | g.93922989G>T | CA462118089 | PDP1 | c.930G>T (p.Leu310=) c.1005G>T (p.Leu335=) c.984G>T (p.Leu328=) c.1092G>T (p.Leu364=) | |
8 | g.93922990T>A | CA371694767 | PDP1 | c.931T>A (p.Ser311Thr) c.1006T>A (p.Ser336Thr) c.985T>A (p.Ser329Thr) c.1093T>A (p.Ser365Thr) | |
8 | g.93922990T>C | CA371694768 | PDP1 | c.931T>C (p.Ser311Pro) c.1006T>C (p.Ser336Pro) c.985T>C (p.Ser329Pro) c.1093T>C (p.Ser365Pro) | |
8 | g.93922990T>G | CA371694769 | PDP1 | c.931T>G (p.Ser311Ala) c.1006T>G (p.Ser336Ala) c.985T>G (p.Ser329Ala) c.1093T>G (p.Ser365Ala) | |
8 | g.93922991C>A | CA371694770 | PDP1 | c.932C>A (p.Ser311Tyr) c.1007C>A (p.Ser336Tyr) c.986C>A (p.Ser329Tyr) c.1094C>A (p.Ser365Tyr) | |
8 | g.93922991C>G | CA371694771 | PDP1 | c.932C>G (p.Ser311Cys) c.1007C>G (p.Ser336Cys) c.986C>G (p.Ser329Cys) c.1094C>G (p.Ser365Cys) | |
8 | g.93922991C>T | CA371694773 | PDP1 | c.932C>T (p.Ser311Phe) c.1007C>T (p.Ser336Phe) c.986C>T (p.Ser329Phe) c.1094C>T (p.Ser365Phe) | |
8 | g.93922992T>A | CA462118093 | PDP1 | c.933T>A (p.Ser311=) c.1008T>A (p.Ser336=) c.987T>A (p.Ser329=) c.1095T>A (p.Ser365=) | |
8 | g.93922992T>C | CA462118094 | PDP1 | c.933T>C (p.Ser311=) c.1008T>C (p.Ser336=) c.987T>C (p.Ser329=) c.1095T>C (p.Ser365=) | |
8 | g.93922992T>G | CA462118095 | PDP1 | c.933T>G (p.Ser311=) c.1008T>G (p.Ser336=) c.987T>G (p.Ser329=) c.1095T>G (p.Ser365=) | |
8 | g.93922993A= | CA1803280810 | PDP1 | c.934A= (p.Asn312=) c.1009A= (p.Asn337=) c.988A= (p.Asn330=) c.1096A= (p.Asn366=) | |
8 | g.93922993A>C | CA371694777 | PDP1 | c.934A>C (p.Asn312His) c.1009A>C (p.Asn337His) c.988A>C (p.Asn330His) c.1096A>C (p.Asn366His) | |
8 | g.93922993A>G | CA371694775 | PDP1 | c.934A>G (p.Asn312Asp) c.1009A>G (p.Asn337Asp) c.988A>G (p.Asn330Asp) c.1096A>G (p.Asn366Asp) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.93922993A>T | CA371694776 | PDP1 | c.934A>T (p.Asn312Tyr) c.1009A>T (p.Asn337Tyr) c.988A>T (p.Asn330Tyr) c.1096A>T (p.Asn366Tyr) | |
8 | g.93922994A= | CA1803280811 | PDP1 | c.935A= (p.Asn312=) c.1010A= (p.Asn337=) c.989A= (p.Asn330=) c.1097A= (p.Asn366=) | |
8 | g.93922994A>C | CA181375834 | PDP1 | c.935A>C (p.Asn312Thr) c.1010A>C (p.Asn337Thr) c.989A>C (p.Asn330Thr) c.1097A>C (p.Asn366Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.93922994A>G | CA371694778 | PDP1 | c.935A>G (p.Asn312Ser) c.1010A>G (p.Asn337Ser) c.989A>G (p.Asn330Ser) c.1097A>G (p.Asn366Ser) | dbSNP gnomAD v2 |
8 | g.93922994A>T | CA371694779 | PDP1 | c.935A>T (p.Asn312Ile) c.1010A>T (p.Asn337Ile) c.989A>T (p.Asn330Ile) c.1097A>T (p.Asn366Ile) | |
8 | g.93922995T>A | CA371694781 | PDP1 | c.936T>A (p.Asn312Lys) c.1011T>A (p.Asn337Lys) c.990T>A (p.Asn330Lys) c.1098T>A (p.Asn366Lys) | |
8 | g.93922995T>C | CA462118101 | PDP1 | c.936T>C (p.Asn312=) c.1011T>C (p.Asn337=) c.990T>C (p.Asn330=) c.1098T>C (p.Asn366=) | |
8 | g.93922995T>G | CA371694782 | PDP1 | c.936T>G (p.Asn312Lys) c.1011T>G (p.Asn337Lys) c.990T>G (p.Asn330Lys) c.1098T>G (p.Asn366Lys) | |
8 | g.93922996G>A | CA4808762 | PDP1 | c.937G>A (p.Asp313Asn) c.1012G>A (p.Asp338Asn) c.991G>A (p.Asp331Asn) c.1099G>A (p.Asp367Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.93922996G>C | CA371694786 | PDP1 | c.937G>C (p.Asp313His) c.1012G>C (p.Asp338His) c.991G>C (p.Asp331His) c.1099G>C (p.Asp367His) | |
8 | g.93922996G= | CA1803280812 | PDP1 | c.937G= (p.Asp313=) c.1012G= (p.Asp338=) c.991G= (p.Asp331=) c.1099G= (p.Asp367=) | |
8 | g.93922996G>T | CA371694784 | PDP1 | c.937G>T (p.Asp313Tyr) c.1012G>T (p.Asp338Tyr) c.991G>T (p.Asp331Tyr) c.1099G>T (p.Asp367Tyr) | |
8 | g.93922997A>C | CA371694788 | PDP1 | c.938A>C (p.Asp313Ala) c.1013A>C (p.Asp338Ala) c.992A>C (p.Asp331Ala) c.1100A>C (p.Asp367Ala) | |
8 | g.93922997A>G | CA371694792 | PDP1 | c.938A>G (p.Asp313Gly) c.1013A>G (p.Asp338Gly) c.992A>G (p.Asp331Gly) c.1100A>G (p.Asp367Gly) | |
8 | g.93922997A>T | CA371694790 | PDP1 | c.938A>T (p.Asp313Val) c.1013A>T (p.Asp338Val) c.992A>T (p.Asp331Val) c.1100A>T (p.Asp367Val) | |
8 | g.93922998C>A | CA371694794 | PDP1 | c.939C>A (p.Asp313Glu) c.1014C>A (p.Asp338Glu) c.993C>A (p.Asp331Glu) c.1101C>A (p.Asp367Glu) | |
8 | g.93922998C>G | CA371694795 | PDP1 | c.939C>G (p.Asp313Glu) c.1014C>G (p.Asp338Glu) c.993C>G (p.Asp331Glu) c.1101C>G (p.Asp367Glu) | |
8 | g.93922998C>T | CA462118107 | PDP1 | c.939C>T (p.Asp313=) c.1014C>T (p.Asp338=) c.993C>T (p.Asp331=) c.1101C>T (p.Asp367=) | gnomAD v4 |
8 | g.93922999C>A | CA371694797 | PDP1 | c.940C>A (p.His314Asn) c.1015C>A (p.His339Asn) c.994C>A (p.His332Asn) c.1102C>A (p.His368Asn) | |
8 | g.93922999C>G | CA371694799 | PDP1 | c.940C>G (p.His314Asp) c.1015C>G (p.His339Asp) c.994C>G (p.His332Asp) c.1102C>G (p.His368Asp) | |
8 | g.93922999C>T | CA371694800 | PDP1 | c.940C>T (p.His314Tyr) c.1015C>T (p.His339Tyr) c.994C>T (p.His332Tyr) c.1102C>T (p.His368Tyr) | |
8 | g.93923000A>C | CA371694802 | PDP1 | c.941A>C (p.His314Pro) c.1016A>C (p.His339Pro) c.995A>C (p.His332Pro) c.1103A>C (p.His368Pro) | |
8 | g.93923000A>G | CA371694803 | PDP1 | c.941A>G (p.His314Arg) c.1016A>G (p.His339Arg) c.995A>G (p.His332Arg) c.1103A>G (p.His368Arg) | |
8 | g.93923000A>T | CA371694804 | PDP1 | c.941A>T (p.His314Leu) c.1016A>T (p.His339Leu) c.995A>T (p.His332Leu) c.1103A>T (p.His368Leu) | |
8 | g.93923001C>A | CA371694805 | PDP1 | c.942C>A (p.His314Gln) c.1017C>A (p.His339Gln) c.996C>A (p.His332Gln) c.1104C>A (p.His368Gln) | |
8 | g.93923001C>G | CA371694807 | PDP1 | c.942C>G (p.His314Gln) c.1017C>G (p.His339Gln) c.996C>G (p.His332Gln) c.1104C>G (p.His368Gln) | |
8 | g.93923001C>T | CA462118110 | PDP1 | c.942C>T (p.His314=) c.1017C>T (p.His339=) c.996C>T (p.His332=) c.1104C>T (p.His368=) | |
8 | g.93923002A>C | CA371694811 | PDP1 | c.943A>C (p.Asn315His) c.1018A>C (p.Asn340His) c.997A>C (p.Asn333His) c.1105A>C (p.Asn369His) | |
8 | g.93923002A>G | CA371694814 | PDP1 | c.943A>G (p.Asn315Asp) c.1018A>G (p.Asn340Asp) c.997A>G (p.Asn333Asp) c.1105A>G (p.Asn369Asp) | |
8 | g.93923002A>T | CA371694816 | PDP1 | c.943A>T (p.Asn315Tyr) c.1018A>T (p.Asn340Tyr) c.997A>T (p.Asn333Tyr) c.1105A>T (p.Asn369Tyr) | |
8 | g.93923003A= | CA1803280813 | PDP1 | c.944A= (p.Asn315=) c.1019A= (p.Asn340=) c.998A= (p.Asn333=) c.1106A= (p.Asn369=) | |
8 | g.93923003A>C | CA371694818 | PDP1 | c.944A>C (p.Asn315Thr) c.1019A>C (p.Asn340Thr) c.998A>C (p.Asn333Thr) c.1106A>C (p.Asn369Thr) | |
8 | g.93923003A>G | CA4808763 | PDP1 | c.944A>G (p.Asn315Ser) c.1019A>G (p.Asn340Ser) c.998A>G (p.Asn333Ser) c.1106A>G (p.Asn369Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.93923003A>T | CA371694821 | PDP1 | c.944A>T (p.Asn315Ile) c.1019A>T (p.Asn340Ile) c.998A>T (p.Asn333Ile) c.1106A>T (p.Asn369Ile) | |
8 | g.93923004T>A | CA371694822 | PDP1 | c.945T>A (p.Asn315Lys) c.1020T>A (p.Asn340Lys) c.999T>A (p.Asn333Lys) c.1107T>A (p.Asn369Lys) | |
8 | g.93923004T>C | CA462117822 | PDP1 | c.945T>C (p.Asn315=) c.1020T>C (p.Asn340=) c.999T>C (p.Asn333=) c.1107T>C (p.Asn369=) | |
8 | g.93923004T>G | CA371694823 | PDP1 | c.945T>G (p.Asn315Lys) c.1020T>G (p.Asn340Lys) c.999T>G (p.Asn333Lys) c.1107T>G (p.Asn369Lys) | |
8 | g.93923005G>A | CA371694825 | PDP1 | c.946G>A (p.Ala316Thr) c.1021G>A (p.Ala341Thr) c.1000G>A (p.Ala334Thr) c.1108G>A (p.Ala370Thr) | |
8 | g.93923005G>C | CA371694827 | PDP1 | c.946G>C (p.Ala316Pro) c.1021G>C (p.Ala341Pro) c.1000G>C (p.Ala334Pro) c.1108G>C (p.Ala370Pro) | gnomAD v4 |
8 | g.93923005G>T | CA371694829 | PDP1 | c.946G>T (p.Ala316Ser) c.1021G>T (p.Ala341Ser) c.1000G>T (p.Ala334Ser) c.1108G>T (p.Ala370Ser) | gnomAD v4 |
8 | g.93923006C>A | CA371694830 | PDP1 | c.947C>A (p.Ala316Asp) c.1022C>A (p.Ala341Asp) c.1001C>A (p.Ala334Asp) c.1109C>A (p.Ala370Asp) | |
8 | g.93923006C>G | CA371694832 | PDP1 | c.947C>G (p.Ala316Gly) c.1022C>G (p.Ala341Gly) c.1001C>G (p.Ala334Gly) c.1109C>G (p.Ala370Gly) | |
8 | g.93923006C>T | CA371694833 | PDP1 | c.947C>T (p.Ala316Val) c.1022C>T (p.Ala341Val) c.1001C>T (p.Ala334Val) c.1109C>T (p.Ala370Val) | gnomAD v4 |
8 | g.93923007T>A | CA462117826 | PDP1 | c.948T>A (p.Ala316=) c.1023T>A (p.Ala341=) c.1002T>A (p.Ala334=) c.1110T>A (p.Ala370=) | |
8 | g.93923007T>C | CA462117824 | PDP1 | c.948T>C (p.Ala316=) c.1023T>C (p.Ala341=) c.1002T>C (p.Ala334=) c.1110T>C (p.Ala370=) | |
8 | g.93923007T>G | CA462117825 | PDP1 | c.948T>G (p.Ala316=) c.1023T>G (p.Ala341=) c.1002T>G (p.Ala334=) c.1110T>G (p.Ala370=) | |
8 | g.93923008C>A | CA371694835 | PDP1 | c.949C>A (p.Gln317Lys) c.1024C>A (p.Gln342Lys) c.1003C>A (p.Gln335Lys) c.1111C>A (p.Gln371Lys) | |
8 | g.93923008C>G | CA371694837 | PDP1 | c.949C>G (p.Gln317Glu) c.1024C>G (p.Gln342Glu) c.1003C>G (p.Gln335Glu) c.1111C>G (p.Gln371Glu) | |
8 | g.93923008C>T | CA371694839 | PDP1 | c.949C>T (p.Gln317Ter) c.1024C>T (p.Gln342Ter) c.1003C>T (p.Gln335Ter) c.1111C>T (p.Gln371Ter) | COSMIC COSMIC |
8 | g.93923009A>C | CA371694841 | PDP1 | c.950A>C (p.Gln317Pro) c.1025A>C (p.Gln342Pro) c.1004A>C (p.Gln335Pro) c.1112A>C (p.Gln371Pro) | |
8 | g.93923009A>G | CA371694843 | PDP1 | c.950A>G (p.Gln317Arg) c.1025A>G (p.Gln342Arg) c.1004A>G (p.Gln335Arg) c.1112A>G (p.Gln371Arg) | |
8 | g.93923009A>T | CA371694845 | PDP1 | c.950A>T (p.Gln317Leu) c.1025A>T (p.Gln342Leu) c.1004A>T (p.Gln335Leu) c.1112A>T (p.Gln371Leu) | |
8 | g.93923010A= | CA1803280814 | PDP1 | c.951A= (p.Gln317=) c.1026A= (p.Gln342=) c.1005A= (p.Gln335=) c.1113A= (p.Gln371=) | |
8 | g.93923010A>C | CA371694847 | PDP1 | c.951A>C (p.Gln317His) c.1026A>C (p.Gln342His) c.1005A>C (p.Gln335His) c.1113A>C (p.Gln371His) | dbSNP gnomAD v2 |
8 | g.93923010A>G | CA4808764 | PDP1 | c.951A>G (p.Gln317=) c.1026A>G (p.Gln342=) c.1005A>G (p.Gln335=) c.1113A>G (p.Gln371=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.93923010A>T | CA371694849 | PDP1 | c.951A>T (p.Gln317His) c.1026A>T (p.Gln342His) c.1005A>T (p.Gln335His) c.1113A>T (p.Gln371His) | COSMIC COSMIC |
8 | g.93923011A>C | CA371694852 | PDP1 | c.952A>C (p.Asn318His) c.1027A>C (p.Asn343His) c.1006A>C (p.Asn336His) c.1114A>C (p.Asn372His) | gnomAD v4 |
8 | g.93923011A>G | CA371694854 | PDP1 | c.952A>G (p.Asn318Asp) c.1027A>G (p.Asn343Asp) c.1006A>G (p.Asn336Asp) c.1114A>G (p.Asn372Asp) | |
8 | g.93923011A>T | CA371694855 | PDP1 | c.952A>T (p.Asn318Tyr) c.1027A>T (p.Asn343Tyr) c.1006A>T (p.Asn336Tyr) c.1114A>T (p.Asn372Tyr) | |
8 | g.93923012A>C | CA371694858 | PDP1 | c.953A>C (p.Asn318Thr) c.1028A>C (p.Asn343Thr) c.1007A>C (p.Asn336Thr) c.1115A>C (p.Asn372Thr) | |
8 | g.93923012A>G | CA371694860 | PDP1 | c.953A>G (p.Asn318Ser) c.1028A>G (p.Asn343Ser) c.1007A>G (p.Asn336Ser) c.1115A>G (p.Asn372Ser) | gnomAD v4 |
8 | g.93923012A>T | CA371694861 | PDP1 | c.953A>T (p.Asn318Ile) c.1028A>T (p.Asn343Ile) c.1007A>T (p.Asn336Ile) c.1115A>T (p.Asn372Ile) | |
8 | g.93923013T>A | CA371694863 | PDP1 | c.954T>A (p.Asn318Lys) c.1029T>A (p.Asn343Lys) c.1008T>A (p.Asn336Lys) c.1116T>A (p.Asn372Lys) | |
8 | g.93923013T>C | CA462117828 | PDP1 | c.954T>C (p.Asn318=) c.1029T>C (p.Asn343=) c.1008T>C (p.Asn336=) c.1116T>C (p.Asn372=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.93923013T>G | CA371694864 | PDP1 | c.954T>G (p.Asn318Lys) c.1029T>G (p.Asn343Lys) c.1008T>G (p.Asn336Lys) c.1116T>G (p.Asn372Lys) | |
8 | g.93923013T= | CA1803280815 | PDP1 | c.954T= (p.Asn318=) c.1029T= (p.Asn343=) c.1008T= (p.Asn336=) c.1116T= (p.Asn372=) | |
8 | g.93923014G>A | CA371694866 | PDP1 | c.955G>A (p.Glu319Lys) c.1030G>A (p.Glu344Lys) c.1009G>A (p.Glu337Lys) c.1117G>A (p.Glu373Lys) | gnomAD v4 |
8 | g.93923014G>C | CA371694868 | PDP1 | c.955G>C (p.Glu319Gln) c.1030G>C (p.Glu344Gln) c.1009G>C (p.Glu337Gln) c.1117G>C (p.Glu373Gln) | |
8 | g.93923014G>T | CA371694869 | PDP1 | c.955G>T (p.Glu319Ter) c.1030G>T (p.Glu344Ter) c.1009G>T (p.Glu337Ter) c.1117G>T (p.Glu373Ter) | |
8 | g.93923015A>C | CA371694874 | PDP1 | c.956A>C (p.Glu319Ala) c.1031A>C (p.Glu344Ala) c.1010A>C (p.Glu337Ala) c.1118A>C (p.Glu373Ala) | |
8 | g.93923015A>G | CA371694872 | PDP1 | c.956A>G (p.Glu319Gly) c.1031A>G (p.Glu344Gly) c.1010A>G (p.Glu337Gly) c.1118A>G (p.Glu373Gly) | |
8 | g.93923015A>T | CA371694871 | PDP1 | c.956A>T (p.Glu319Val) c.1031A>T (p.Glu344Val) c.1010A>T (p.Glu337Val) c.1118A>T (p.Glu373Val) | |
8 | g.93923016A= | CA1803280816 | PDP1 | c.957A= (p.Glu319=) c.1032A= (p.Glu344=) c.1011A= (p.Glu337=) c.1119A= (p.Glu373=) | |
8 | g.93923016A>C | CA371694876 | PDP1 | c.957A>C (p.Glu319Asp) c.1032A>C (p.Glu344Asp) c.1011A>C (p.Glu337Asp) c.1119A>C (p.Glu373Asp) | |
8 | g.93923016A>G | CA462117829 | PDP1 | c.957A>G (p.Glu319=) c.1032A>G (p.Glu344=) c.1011A>G (p.Glu337=) c.1119A>G (p.Glu373=) | gnomAD v4 |
8 | g.93923016A>T | CA371694878 | PDP1 | c.957A>T (p.Glu319Asp) c.1032A>T (p.Glu344Asp) c.1011A>T (p.Glu337Asp) c.1119A>T (p.Glu373Asp) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.93923017A>C | CA462117830 | PDP1 | c.958A>C (p.Arg320=) c.1033A>C (p.Arg345=) c.1012A>C (p.Arg338=) c.1120A>C (p.Arg374=) | |
8 | g.93923017A>G | CA371694879 | PDP1 | c.958A>G (p.Arg320Gly) c.1033A>G (p.Arg345Gly) c.1012A>G (p.Arg338Gly) c.1120A>G (p.Arg374Gly) | |
8 | g.93923017A>T | CA371694881 | PDP1 | c.958A>T (p.Arg320Ter) c.1033A>T (p.Arg345Ter) c.1012A>T (p.Arg338Ter) c.1120A>T (p.Arg374Ter) | |
8 | g.93923020_93923021del | CA2579206331 | PDP1 | c.961_962del (p.Glu321ThrfsTer12) c.1036_1037del (p.Glu346ThrfsTer12) c.1015_1016del (p.Glu339ThrfsTer12) c.1123_1124del (p.Glu375ThrfsTer12) | gnomAD v4 |
8 | g.93923018G>A | CA371694883 | PDP1 | c.959G>A (p.Arg320Lys) c.1034G>A (p.Arg345Lys) c.1013G>A (p.Arg338Lys) c.1121G>A (p.Arg374Lys) | gnomAD v4 |
8 | g.93923018G>C | CA181375850 | PDP1 | c.959G>C (p.Arg320Thr) c.1034G>C (p.Arg345Thr) c.1013G>C (p.Arg338Thr) c.1121G>C (p.Arg374Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.93923018G= | CA1803280817 | PDP1 | c.959G= (p.Arg320=) c.1034G= (p.Arg345=) c.1013G= (p.Arg338=) c.1121G= (p.Arg374=) | |
8 | g.93923018G>T | CA371694886 | PDP1 | c.959G>T (p.Arg320Ile) c.1034G>T (p.Arg345Ile) c.1013G>T (p.Arg338Ile) c.1121G>T (p.Arg374Ile) | |
8 | g.93923019A>C | CA371694889 | PDP1 | c.960A>C (p.Arg320Ser) c.1035A>C (p.Arg345Ser) c.1014A>C (p.Arg338Ser) c.1122A>C (p.Arg374Ser) | |
8 | g.93923019A>G | CA462117832 | PDP1 | c.960A>G (p.Arg320=) c.1035A>G (p.Arg345=) c.1014A>G (p.Arg338=) c.1122A>G (p.Arg374=) | |
8 | g.93923019A>T | CA371694890 | PDP1 | c.960A>T (p.Arg320Ser) c.1035A>T (p.Arg345Ser) c.1014A>T (p.Arg338Ser) c.1122A>T (p.Arg374Ser) | |
8 | g.93923020G>A | CA371694892 | PDP1 | c.961G>A (p.Glu321Lys) c.1036G>A (p.Glu346Lys) c.1015G>A (p.Glu339Lys) c.1123G>A (p.Glu375Lys) | |
8 | g.93923020G>C | CA371694893 | PDP1 | c.961G>C (p.Glu321Gln) c.1036G>C (p.Glu346Gln) c.1015G>C (p.Glu339Gln) c.1123G>C (p.Glu375Gln) | gnomAD v4 |
8 | g.93923020G>T | CA371694895 | PDP1 | c.961G>T (p.Glu321Ter) c.1036G>T (p.Glu346Ter) c.1015G>T (p.Glu339Ter) c.1123G>T (p.Glu375Ter) | COSMIC COSMIC |
8 | g.93923021A>C | CA371694897 | PDP1 | c.962A>C (p.Glu321Ala) c.1037A>C (p.Glu346Ala) c.1016A>C (p.Glu339Ala) c.1124A>C (p.Glu375Ala) | |
8 | g.93923021A>G | CA371694899 | PDP1 | c.962A>G (p.Glu321Gly) c.1037A>G (p.Glu346Gly) c.1016A>G (p.Glu339Gly) c.1124A>G (p.Glu375Gly) | |
8 | g.93923021A>T | CA371694896 | PDP1 | c.962A>T (p.Glu321Val) c.1037A>T (p.Glu346Val) c.1016A>T (p.Glu339Val) c.1124A>T (p.Glu375Val) | |
8 | g.93923022A= | CA1803280818 | PDP1 | c.963A= (p.Glu321=) c.1038A= (p.Glu346=) c.1017A= (p.Glu339=) c.1125A= (p.Glu375=) | |
8 | g.93923022A>C | CA371694904 | PDP1 | c.963A>C (p.Glu321Asp) c.1038A>C (p.Glu346Asp) c.1017A>C (p.Glu339Asp) c.1125A>C (p.Glu375Asp) | |
8 | g.93923022A>G | CA462117834 | PDP1 | c.963A>G (p.Glu321=) c.1038A>G (p.Glu346=) c.1017A>G (p.Glu339=) c.1125A>G (p.Glu375=) | dbSNP COSMIC COSMIC |
8 | g.93923022A>T | CA371694903 | PDP1 | c.963A>T (p.Glu321Asp) c.1038A>T (p.Glu346Asp) c.1017A>T (p.Glu339Asp) c.1125A>T (p.Glu375Asp) | |
8 | g.93923023C>A | CA371694908 | PDP1 | c.964C>A (p.Leu322Ile) c.1039C>A (p.Leu347Ile) c.1018C>A (p.Leu340Ile) c.1126C>A (p.Leu376Ile) | |
8 | g.93923023C>G | CA371694909 | PDP1 | c.964C>G (p.Leu322Val) c.1039C>G (p.Leu347Val) c.1018C>G (p.Leu340Val) c.1126C>G (p.Leu376Val) | |
8 | g.93923023C>T | CA462117835 | PDP1 | c.964C>T (p.Leu322=) c.1039C>T (p.Leu347=) c.1018C>T (p.Leu340=) c.1126C>T (p.Leu376=) | gnomAD v4 |
8 | g.93923024T>A | CA371694911 | PDP1 | c.965T>A (p.Leu322Gln) c.1040T>A (p.Leu347Gln) c.1019T>A (p.Leu340Gln) c.1127T>A (p.Leu376Gln) | |
8 | g.93923024T>C | CA371694912 | PDP1 | c.965T>C (p.Leu322Pro) c.1040T>C (p.Leu347Pro) c.1019T>C (p.Leu340Pro) c.1127T>C (p.Leu376Pro) | |
8 | g.93923024T>G | CA371694914 | PDP1 | c.965T>G (p.Leu322Arg) c.1040T>G (p.Leu347Arg) c.1019T>G (p.Leu340Arg) c.1127T>G (p.Leu376Arg) | |
8 | g.93923025A= | CA1803280819 | PDP1 | c.966A= (p.Leu322=) c.1041A= (p.Leu347=) c.1020A= (p.Leu340=) c.1128A= (p.Leu376=) | |
8 | g.93923025A>C | CA462117840 | PDP1 | c.966A>C (p.Leu322=) c.1041A>C (p.Leu347=) c.1020A>C (p.Leu340=) c.1128A>C (p.Leu376=) | |
8 | g.93923025A>G | CA462117841 | PDP1 | c.966A>G (p.Leu322=) c.1041A>G (p.Leu347=) c.1020A>G (p.Leu340=) c.1128A>G (p.Leu376=) | dbSNP gnomAD v4 |
8 | g.93923025A>T | CA462117842 | PDP1 | c.966A>T (p.Leu322=) c.1041A>T (p.Leu347=) c.1020A>T (p.Leu340=) c.1128A>T (p.Leu376=) | |
8 | g.93923026G>A | CA4808765 | PDP1 | c.967G>A (p.Glu323Lys) c.1042G>A (p.Glu348Lys) c.1021G>A (p.Glu341Lys) c.1129G>A (p.Glu377Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.93923026G>C | CA181375865 | PDP1 | c.967G>C (p.Glu323Gln) c.1042G>C (p.Glu348Gln) c.1021G>C (p.Glu341Gln) c.1129G>C (p.Glu377Gln) | dbSNP gnomAD v4 |
8 | g.93923026G= | CA1803280820 | PDP1 | c.967G= (p.Glu323=) c.1042G= (p.Glu348=) c.1021G= (p.Glu341=) c.1129G= (p.Glu377=) | |
8 | g.93923026G>T | CA371694921 | PDP1 | c.967G>T (p.Glu323Ter) c.1042G>T (p.Glu348Ter) c.1021G>T (p.Glu341Ter) c.1129G>T (p.Glu377Ter) | |
8 | g.93923027A>C | CA371694923 | PDP1 | c.968A>C (p.Glu323Ala) c.1043A>C (p.Glu348Ala) c.1022A>C (p.Glu341Ala) c.1130A>C (p.Glu377Ala) | |
8 | g.93923027A>G | CA371694924 | PDP1 | c.968A>G (p.Glu323Gly) c.1043A>G (p.Glu348Gly) c.1022A>G (p.Glu341Gly) c.1130A>G (p.Glu377Gly) | |
8 | g.93923027A>T | CA371694925 | PDP1 | c.968A>T (p.Glu323Val) c.1043A>T (p.Glu348Val) c.1022A>T (p.Glu341Val) c.1130A>T (p.Glu377Val) | |
8 | g.93923028A>C | CA371694928 | PDP1 | c.969A>C (p.Glu323Asp) c.1044A>C (p.Glu348Asp) c.1023A>C (p.Glu341Asp) c.1131A>C (p.Glu377Asp) | |
8 | g.93923028A>G | CA462117844 | PDP1 | c.969A>G (p.Glu323=) c.1044A>G (p.Glu348=) c.1023A>G (p.Glu341=) c.1131A>G (p.Glu377=) | |
8 | g.93923028A>T | CA371694927 | PDP1 | c.969A>T (p.Glu323Asp) c.1044A>T (p.Glu348Asp) c.1023A>T (p.Glu341Asp) c.1131A>T (p.Glu377Asp) | |
8 | g.93923029C>A | CA462117845 | PDP1 | c.970C>A (p.Arg324=) c.1045C>A (p.Arg349=) c.1024C>A (p.Arg342=) c.1132C>A (p.Arg378=) | |
8 | g.93923029C= | CA1803280821 | PDP1 | c.970C= (p.Arg324=) c.1045C= (p.Arg349=) c.1024C= (p.Arg342=) c.1132C= (p.Arg378=) | |
8 | g.93923029C>G | CA371694930 | PDP1 | c.970C>G (p.Arg324Gly) c.1045C>G (p.Arg349Gly) c.1024C>G (p.Arg342Gly) c.1132C>G (p.Arg378Gly) | |
8 | g.93923029C>T | CA371694931 | PDP1 | c.970C>T (p.Arg324Trp) c.1045C>T (p.Arg349Trp) c.1024C>T (p.Arg342Trp) c.1132C>T (p.Arg378Trp) | ClinVar dbSNP gnomAD v4 |
8 | g.93923030G>A | CA4808766 | PDP1 | c.971G>A (p.Arg324Gln) c.1046G>A (p.Arg349Gln) c.1025G>A (p.Arg342Gln) c.1133G>A (p.Arg378Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.93923030G>C | CA371694935 | PDP1 | c.971G>C (p.Arg324Pro) c.1046G>C (p.Arg349Pro) c.1025G>C (p.Arg342Pro) c.1133G>C (p.Arg378Pro) | |
8 | g.93923030G= | CA1803280822 | PDP1 | c.971G= (p.Arg324=) c.1046G= (p.Arg349=) c.1025G= (p.Arg342=) c.1133G= (p.Arg378=) | |
8 | g.93923030G>T | CA371694937 | PDP1 | c.971G>T (p.Arg324Leu) c.1046G>T (p.Arg349Leu) c.1025G>T (p.Arg342Leu) c.1133G>T (p.Arg378Leu) | |
8 | g.93923031G>A | CA462117846 | PDP1 | c.972G>A (p.Arg324=) c.1047G>A (p.Arg349=) c.1026G>A (p.Arg342=) c.1134G>A (p.Arg378=) | dbSNP |
8 | g.93923031G>C | CA462117847 | PDP1 | c.972G>C (p.Arg324=) c.1047G>C (p.Arg349=) c.1026G>C (p.Arg342=) c.1134G>C (p.Arg378=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.93923031G= | CA1803280823 | PDP1 | c.972G= (p.Arg324=) c.1047G= (p.Arg349=) c.1026G= (p.Arg342=) c.1134G= (p.Arg378=) | |
8 | g.93923031G>T | CA462117848 | PDP1 | c.972G>T (p.Arg324=) c.1047G>T (p.Arg349=) c.1026G>T (p.Arg342=) c.1134G>T (p.Arg378=) | gnomAD v4 |