Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.77926777_77926779delinsCTT | CA1177623808 | NEXN | c.749_751delinsCTT (p.Thr250=) c.557_559delinsCTT (p.Thr186=) c.448_450delinsCTT c.707_709delinsCTT (p.Thr236=) n.209_211delinsCTT c.515_517delinsCTT (p.Thr172=) c.448-2539_448-2537delinsCTT (n.448-2539_448-2537delinsCTT) | |
1 | g.77926778T>A | CA418709284 | NEXN | c.750T>A (p.Thr250=) c.558T>A (p.Thr186=) c.449T>A c.708T>A (p.Thr236=) n.210T>A c.516T>A (p.Thr172=) c.448-2538T>A (n.448-2538T>A) | |
1 | g.77926778T>C | CA418709285 | NEXN | c.750T>C (p.Thr250=) c.558T>C (p.Thr186=) c.449T>C c.708T>C (p.Thr236=) n.210T>C c.516T>C (p.Thr172=) c.448-2538T>C (n.448-2538T>C) | |
1 | g.77926778T>G | CA418709286 | NEXN | c.750T>G (p.Thr250=) c.558T>G (p.Thr186=) c.449T>G c.708T>G (p.Thr236=) n.210T>G c.516T>G (p.Thr172=) c.448-2538T>G (n.448-2538T>G) | |
1 | g.77926780_77926781del | CA739082882 | NEXN | c.752_753del (p.Phe251Ter) c.560_561del (p.Phe187Ter) c.451_452del c.710_711del (p.Phe237Ter) n.212_213del c.518_519del (p.Phe173Ter) c.448-2536_448-2535del (n.448-2536_448-2535del) | dbSNP |
1 | g.77926779T>A | CA340873873 | NEXN | c.751T>A (p.Phe251Ile) c.559T>A (p.Phe187Ile) c.450T>A c.709T>A (p.Phe237Ile) n.211T>A c.517T>A (p.Phe173Ile) c.448-2537T>A (n.448-2537T>A) | |
1 | g.77926779T>C | CA340873879 | NEXN | c.751T>C (p.Phe251Leu) c.559T>C (p.Phe187Leu) c.450T>C c.709T>C (p.Phe237Leu) n.211T>C c.517T>C (p.Phe173Leu) c.448-2537T>C (n.448-2537T>C) | |
1 | g.77926779T>G | CA340873884 | NEXN | c.751T>G (p.Phe251Val) c.559T>G (p.Phe187Val) c.450T>G c.709T>G (p.Phe237Val) n.211T>G c.517T>G (p.Phe173Val) c.448-2537T>G (n.448-2537T>G) | gnomAD v4 |
1 | g.77926780T>A | CA340873887 | NEXN | c.752T>A (p.Phe251Tyr) c.560T>A (p.Phe187Tyr) c.451T>A c.710T>A (p.Phe237Tyr) n.212T>A c.518T>A (p.Phe173Tyr) c.448-2536T>A (n.448-2536T>A) | |
1 | g.77926780T>C | CA340873896 | NEXN | c.752T>C (p.Phe251Ser) c.560T>C (p.Phe187Ser) c.451T>C c.710T>C (p.Phe237Ser) n.212T>C c.518T>C (p.Phe173Ser) c.448-2536T>C (n.448-2536T>C) | |
1 | g.77926780T>G | CA24678731 | NEXN | c.752T>G (p.Phe251Cys) c.560T>G (p.Phe187Cys) c.451T>G c.710T>G (p.Phe237Cys) n.212T>G c.518T>G (p.Phe173Cys) c.448-2536T>G (n.448-2536T>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.77926780T= | CA1146302812 | NEXN | c.752T= (p.Phe251=) c.560T= (p.Phe187=) c.451T= c.710T= (p.Phe237=) n.212T= c.518T= (p.Phe173=) c.448-2536T= (n.448-2536T=) | |
1 | g.77926781T>A | CA340873913 | NEXN | c.753T>A (p.Phe251Leu) c.561T>A (p.Phe187Leu) c.452T>A c.711T>A (p.Phe237Leu) n.213T>A c.519T>A (p.Phe173Leu) c.448-2535T>A (n.448-2535T>A) | |
1 | g.77926781T>C | CA418709287 | NEXN | c.753T>C (p.Phe251=) c.561T>C (p.Phe187=) c.452T>C c.711T>C (p.Phe237=) n.213T>C c.519T>C (p.Phe173=) c.448-2535T>C (n.448-2535T>C) | |
1 | g.77926781T>G | CA918726 | NEXN | c.753T>G (p.Phe251Leu) c.561T>G (p.Phe187Leu) c.452T>G c.711T>G (p.Phe237Leu) n.213T>G c.519T>G (p.Phe173Leu) c.448-2535T>G (n.448-2535T>G) | dbSNP ExAC gnomAD v2 |
1 | g.77926781T= | CA1177623809 | NEXN | c.753T= (p.Phe251=) c.561T= (p.Phe187=) c.452T= c.711T= (p.Phe237=) n.213T= c.519T= (p.Phe173=) c.448-2535T= (n.448-2535T=) | |
1 | g.77926782G>A | CA340873922 | NEXN | c.754G>A (p.Glu252Lys) c.562G>A (p.Glu188Lys) c.453G>A c.712G>A (p.Glu238Lys) n.214G>A c.520G>A (p.Glu174Lys) c.448-2534G>A (n.448-2534G>A) | |
1 | g.77926782G>C | CA340873924 | NEXN | c.754G>C (p.Glu252Gln) c.562G>C (p.Glu188Gln) c.453G>C c.712G>C (p.Glu238Gln) n.214G>C c.520G>C (p.Glu174Gln) c.448-2534G>C (n.448-2534G>C) | |
1 | g.77926782G>T | CA340873934 | NEXN | c.754G>T (p.Glu252Ter) c.562G>T (p.Glu188Ter) c.453G>T c.712G>T (p.Glu238Ter) n.214G>T c.520G>T (p.Glu174Ter) c.448-2534G>T (n.448-2534G>T) | |
1 | g.77926783A>C | CA340873938 | NEXN | c.755A>C (p.Glu252Ala) c.563A>C (p.Glu188Ala) c.454A>C c.713A>C (p.Glu238Ala) n.215A>C c.521A>C (p.Glu174Ala) c.448-2533A>C (n.448-2533A>C) | |
1 | g.77926783A>G | CA340873939 | NEXN | c.755A>G (p.Glu252Gly) c.563A>G (p.Glu188Gly) c.454A>G c.713A>G (p.Glu238Gly) n.215A>G c.521A>G (p.Glu174Gly) c.448-2533A>G (n.448-2533A>G) | |
1 | g.77926783A>T | CA340873940 | NEXN | c.755A>T (p.Glu252Val) c.563A>T (p.Glu188Val) c.454A>T c.713A>T (p.Glu238Val) n.215A>T c.521A>T (p.Glu174Val) c.448-2533A>T (n.448-2533A>T) | |
1 | g.77926784A>C | CA340873941 | NEXN | c.756A>C (p.Glu252Asp) c.564A>C (p.Glu188Asp) c.455A>C c.714A>C (p.Glu238Asp) n.216A>C c.522A>C (p.Glu174Asp) c.448-2532A>C (n.448-2532A>C) | |
1 | g.77926784A>G | CA418709288 | NEXN | c.756A>G (p.Glu252=) c.564A>G (p.Glu188=) c.455A>G c.714A>G (p.Glu238=) n.216A>G c.522A>G (p.Glu174=) c.448-2532A>G (n.448-2532A>G) | |
1 | g.77926784A>T | CA340873942 | NEXN | c.756A>T (p.Glu252Asp) c.564A>T (p.Glu188Asp) c.455A>T c.714A>T (p.Glu238Asp) n.216A>T c.522A>T (p.Glu174Asp) c.448-2532A>T (n.448-2532A>T) | |
1 | g.77926785G>A | CA340873945 | NEXN | c.757G>A (p.Glu253Lys) c.565G>A (p.Glu189Lys) c.456G>A c.715G>A (p.Glu239Lys) n.217G>A c.523G>A (p.Glu175Lys) c.448-2531G>A (n.448-2531G>A) | |
1 | g.77926785G>C | CA340873944 | NEXN | c.757G>C (p.Glu253Gln) c.565G>C (p.Glu189Gln) c.456G>C c.715G>C (p.Glu239Gln) n.217G>C c.523G>C (p.Glu175Gln) c.448-2531G>C (n.448-2531G>C) | |
1 | g.77926785G>T | CA340873943 | NEXN | c.757G>T (p.Glu253Ter) c.565G>T (p.Glu189Ter) c.456G>T c.715G>T (p.Glu239Ter) n.217G>T c.523G>T (p.Glu175Ter) c.448-2531G>T (n.448-2531G>T) | |
1 | g.77926786A>C | CA340873948 | NEXN | c.758A>C (p.Glu253Ala) c.566A>C (p.Glu189Ala) c.457A>C c.716A>C (p.Glu239Ala) n.218A>C c.524A>C (p.Glu175Ala) c.448-2530A>C (n.448-2530A>C) | |
1 | g.77926786A>G | CA340873951 | NEXN | c.758A>G (p.Glu253Gly) c.566A>G (p.Glu189Gly) c.457A>G c.716A>G (p.Glu239Gly) n.218A>G c.524A>G (p.Glu175Gly) c.448-2530A>G (n.448-2530A>G) | |
1 | g.77926786A>T | CA340873953 | NEXN | c.758A>T (p.Glu253Val) c.566A>T (p.Glu189Val) c.457A>T c.716A>T (p.Glu239Val) n.218A>T c.524A>T (p.Glu175Val) c.448-2530A>T (n.448-2530A>T) | |
1 | g.77926787A>C | CA340873962 | NEXN | c.759A>C (p.Glu253Asp) c.567A>C (p.Glu189Asp) c.458A>C c.717A>C (p.Glu239Asp) n.219A>C c.525A>C (p.Glu175Asp) c.448-2529A>C (n.448-2529A>C) | |
1 | g.77926787A>G | CA418709289 | NEXN | c.759A>G (p.Glu253=) c.567A>G (p.Glu189=) c.458A>G c.717A>G (p.Glu239=) n.219A>G c.525A>G (p.Glu175=) c.448-2529A>G (n.448-2529A>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.77926787A>T | CA340873964 | NEXN | c.759A>T (p.Glu253Asp) c.567A>T (p.Glu189Asp) c.458A>T c.717A>T (p.Glu239Asp) n.219A>T c.525A>T (p.Glu175Asp) c.448-2529A>T (n.448-2529A>T) | |
1 | g.77926788C>A | CA340873972 | NEXN | c.760C>A (p.Leu254Met) c.568C>A (p.Leu190Met) c.459C>A c.718C>A (p.Leu240Met) n.220C>A c.526C>A (p.Leu176Met) c.448-2528C>A (n.448-2528C>A) | |
1 | g.77926788C>G | CA340873978 | NEXN | c.760C>G (p.Leu254Val) c.568C>G (p.Leu190Val) c.459C>G c.718C>G (p.Leu240Val) n.220C>G c.526C>G (p.Leu176Val) c.448-2528C>G (n.448-2528C>G) | |
1 | g.77926788C>T | CA418709290 | NEXN | c.760C>T (p.Leu254=) c.568C>T (p.Leu190=) c.459C>T c.718C>T (p.Leu240=) n.220C>T c.526C>T (p.Leu176=) c.448-2528C>T (n.448-2528C>T) | |
1 | g.77926789T>A | CA340873982 | NEXN | c.761T>A (p.Leu254Gln) c.569T>A (p.Leu190Gln) c.460T>A c.719T>A (p.Leu240Gln) n.221T>A c.527T>A (p.Leu176Gln) c.448-2527T>A (n.448-2527T>A) | |
1 | g.77926789T>C | CA340873984 | NEXN | c.761T>C (p.Leu254Pro) c.569T>C (p.Leu190Pro) c.460T>C c.719T>C (p.Leu240Pro) n.221T>C c.527T>C (p.Leu176Pro) c.448-2527T>C (n.448-2527T>C) | ClinVar COSMIC |
1 | g.77926789T>G | CA340873983 | NEXN | c.761T>G (p.Leu254Arg) c.569T>G (p.Leu190Arg) c.460T>G c.719T>G (p.Leu240Arg) n.221T>G c.527T>G (p.Leu176Arg) c.448-2527T>G (n.448-2527T>G) | |
1 | g.77926790G>A | CA918727 | NEXN | c.762G>A (p.Leu254=) c.570G>A (p.Leu190=) c.461G>A c.720G>A (p.Leu240=) n.222G>A c.528G>A (p.Leu176=) c.448-2526G>A (n.448-2526G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.77926790G>C | CA418709291 | NEXN | c.762G>C (p.Leu254=) c.570G>C (p.Leu190=) c.461G>C c.720G>C (p.Leu240=) n.222G>C c.528G>C (p.Leu176=) c.448-2526G>C (n.448-2526G>C) | |
1 | g.77926790G= | CA1177623810 | NEXN | c.762G= (p.Leu254=) c.570G= (p.Leu190=) c.461G= c.720G= (p.Leu240=) n.222G= c.528G= (p.Leu176=) c.448-2526G= (n.448-2526G=) | |
1 | g.77926790G>T | CA418709292 | NEXN | c.762G>T (p.Leu254=) c.570G>T (p.Leu190=) c.461G>T c.720G>T (p.Leu240=) n.222G>T c.528G>T (p.Leu176=) c.448-2526G>T (n.448-2526G>T) | |
1 | g.77926791G>A | CA340873985 | NEXN | c.763G>A (p.Glu255Lys) c.571G>A (p.Glu191Lys) c.462G>A c.721G>A (p.Glu241Lys) n.223G>A c.529G>A (p.Glu177Lys) c.448-2525G>A (n.448-2525G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.77926791G>C | CA340873986 | NEXN | c.763G>C (p.Glu255Gln) c.571G>C (p.Glu191Gln) c.462G>C c.721G>C (p.Glu241Gln) n.223G>C c.529G>C (p.Glu177Gln) c.448-2525G>C (n.448-2525G>C) | |
1 | g.77926791G= | CA1177623811 | NEXN | c.763G= (p.Glu255=) c.571G= (p.Glu191=) c.462G= c.721G= (p.Glu241=) n.223G= c.529G= (p.Glu177=) c.448-2525G= (n.448-2525G=) | |
1 | g.77926791G>T | CA340873988 | NEXN | c.763G>T (p.Glu255Ter) c.571G>T (p.Glu191Ter) c.462G>T c.721G>T (p.Glu241Ter) n.223G>T c.529G>T (p.Glu177Ter) c.448-2525G>T (n.448-2525G>T) | |
1 | g.77926792A>C | CA340873991 | NEXN | c.764A>C (p.Glu255Ala) c.572A>C (p.Glu191Ala) c.463A>C c.722A>C (p.Glu241Ala) n.224A>C c.530A>C (p.Glu177Ala) c.448-2524A>C (n.448-2524A>C) | |
1 | g.77926792A>G | CA340874000 | NEXN | c.764A>G (p.Glu255Gly) c.572A>G (p.Glu191Gly) c.463A>G c.722A>G (p.Glu241Gly) n.224A>G c.530A>G (p.Glu177Gly) c.448-2524A>G (n.448-2524A>G) | |
1 | g.77926792A>T | CA340873993 | NEXN | c.764A>T (p.Glu255Val) c.572A>T (p.Glu191Val) c.463A>T c.722A>T (p.Glu241Val) n.224A>T c.530A>T (p.Glu177Val) c.448-2524A>T (n.448-2524A>T) | |
1 | g.77926793G>A | CA418709293 | NEXN | c.765G>A (p.Glu255=) c.573G>A (p.Glu191=) c.464G>A c.723G>A (p.Glu241=) n.225G>A c.531G>A (p.Glu177=) c.448-2523G>A (n.448-2523G>A) | |
1 | g.77926793G>C | CA340874004 | NEXN | c.765G>C (p.Glu255Asp) c.573G>C (p.Glu191Asp) c.464G>C c.723G>C (p.Glu241Asp) n.225G>C c.531G>C (p.Glu177Asp) c.448-2523G>C (n.448-2523G>C) | |
1 | g.77926793G>T | CA340874005 | NEXN | c.765G>T (p.Glu255Asp) c.573G>T (p.Glu191Asp) c.464G>T c.723G>T (p.Glu241Asp) n.225G>T c.531G>T (p.Glu177Asp) c.448-2523G>T (n.448-2523G>T) | |
1 | g.77926794C>A | CA418709294 | NEXN | c.766C>A (p.Arg256=) c.574C>A (p.Arg192=) c.465C>A c.724C>A (p.Arg242=) n.226C>A c.532C>A (p.Arg178=) c.448-2522C>A (n.448-2522C>A) | gnomAD v4 |
1 | g.77926794C= | CA1177623812 | NEXN | c.766C= (p.Arg256=) c.574C= (p.Arg192=) c.465C= c.724C= (p.Arg242=) n.226C= c.532C= (p.Arg178=) c.448-2522C= (n.448-2522C=) | |
1 | g.77926794C>G | CA340874009 | NEXN | c.766C>G (p.Arg256Gly) c.574C>G (p.Arg192Gly) c.465C>G c.724C>G (p.Arg242Gly) n.226C>G c.532C>G (p.Arg178Gly) c.448-2522C>G (n.448-2522C>G) | |
1 | g.77926794C>T | CA340874012 | NEXN | c.766C>T (p.Arg256Ter) c.574C>T (p.Arg192Ter) c.465C>T c.724C>T (p.Arg242Ter) n.226C>T c.532C>T (p.Arg178Ter) c.448-2522C>T (n.448-2522C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.77926795G>A | CA918728 | NEXN | c.767G>A (p.Arg256Gln) c.575G>A (p.Arg192Gln) c.466G>A c.725G>A (p.Arg242Gln) n.227G>A c.533G>A (p.Arg178Gln) c.448-2521G>A (n.448-2521G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.77926795G>C | CA340874019 | NEXN | c.767G>C (p.Arg256Pro) c.575G>C (p.Arg192Pro) c.466G>C c.725G>C (p.Arg242Pro) n.227G>C c.533G>C (p.Arg178Pro) c.448-2521G>C (n.448-2521G>C) | |
1 | g.77926795G= | CA1149051776 | NEXN | c.767G= (p.Arg256=) c.575G= (p.Arg192=) c.466G= c.725G= (p.Arg242=) n.227G= c.533G= (p.Arg178=) c.448-2521G= (n.448-2521G=) | |
1 | g.77926795G>T | CA340874023 | NEXN | c.767G>T (p.Arg256Leu) c.575G>T (p.Arg192Leu) c.466G>T c.725G>T (p.Arg242Leu) n.227G>T c.533G>T (p.Arg178Leu) c.448-2521G>T (n.448-2521G>T) | |
1 | g.77926796A>C | CA418709295 | NEXN | c.768A>C (p.Arg256=) c.576A>C (p.Arg192=) c.467A>C c.726A>C (p.Arg242=) n.228A>C c.534A>C (p.Arg178=) c.448-2520A>C (n.448-2520A>C) | |
1 | g.77926796A>G | CA418709296 | NEXN | c.768A>G (p.Arg256=) c.576A>G (p.Arg192=) c.467A>G c.726A>G (p.Arg242=) n.228A>G c.534A>G (p.Arg178=) c.448-2520A>G (n.448-2520A>G) | |
1 | g.77926796A>T | CA418709297 | NEXN | c.768A>T (p.Arg256=) c.576A>T (p.Arg192=) c.467A>T c.726A>T (p.Arg242=) n.228A>T c.534A>T (p.Arg178=) c.448-2520A>T (n.448-2520A>T) | |
1 | g.77926797C>A | CA340874031 | NEXN | c.769C>A (p.Gln257Lys) c.577C>A (p.Gln193Lys) c.468C>A c.727C>A (p.Gln243Lys) n.229C>A c.535C>A (p.Gln179Lys) c.448-2519C>A (n.448-2519C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.77926797C= | CA1177623813 | NEXN | c.769C= (p.Gln257=) c.577C= (p.Gln193=) c.468C= c.727C= (p.Gln243=) n.229C= c.535C= (p.Gln179=) c.448-2519C= (n.448-2519C=) | |
1 | g.77926797C>G | CA340874032 | NEXN | c.769C>G (p.Gln257Glu) c.577C>G (p.Gln193Glu) c.468C>G c.727C>G (p.Gln243Glu) n.229C>G c.535C>G (p.Gln179Glu) c.448-2519C>G (n.448-2519C>G) | |
1 | g.77926797C>T | CA340874045 | NEXN | c.769C>T (p.Gln257Ter) c.577C>T (p.Gln193Ter) c.468C>T c.727C>T (p.Gln243Ter) n.229C>T c.535C>T (p.Gln179Ter) c.448-2519C>T (n.448-2519C>T) | gnomAD v4 |
1 | g.77926798A>C | CA340874055 | NEXN | c.770A>C (p.Gln257Pro) c.578A>C (p.Gln193Pro) c.469A>C c.728A>C (p.Gln243Pro) n.230A>C c.536A>C (p.Gln179Pro) c.448-2518A>C (n.448-2518A>C) | |
1 | g.77926798A>G | CA340874052 | NEXN | c.770A>G (p.Gln257Arg) c.578A>G (p.Gln193Arg) c.469A>G c.728A>G (p.Gln243Arg) n.230A>G c.536A>G (p.Gln179Arg) c.448-2518A>G (n.448-2518A>G) | |
1 | g.77926798A>T | CA340874049 | NEXN | c.770A>T (p.Gln257Leu) c.578A>T (p.Gln193Leu) c.469A>T c.728A>T (p.Gln243Leu) n.230A>T c.536A>T (p.Gln179Leu) c.448-2518A>T (n.448-2518A>T) | |
1 | g.77926799A>C | CA340874058 | NEXN | c.771A>C (p.Gln257His) c.579A>C (p.Gln193His) c.470A>C c.729A>C (p.Gln243His) n.231A>C c.537A>C (p.Gln179His) c.448-2517A>C (n.448-2517A>C) | |
1 | g.77926799A>G | CA418709298 | NEXN | c.771A>G (p.Gln257=) c.579A>G (p.Gln193=) c.470A>G c.729A>G (p.Gln243=) n.231A>G c.537A>G (p.Gln179=) c.448-2517A>G (n.448-2517A>G) | |
1 | g.77926799A>T | CA340874061 | NEXN | c.771A>T (p.Gln257His) c.579A>T (p.Gln193His) c.470A>T c.729A>T (p.Gln243His) n.231A>T c.537A>T (p.Gln179His) c.448-2517A>T (n.448-2517A>T) | |
1 | g.77926800A= | CA1177623814 | NEXN | c.772A= (p.Arg258=) c.580A= (p.Arg194=) c.471A= c.730A= (p.Arg244=) n.232A= c.538A= (p.Arg180=) c.448-2516A= (n.448-2516A=) | |
1 | g.77926800A>C | CA418709299 | NEXN | c.772A>C (p.Arg258=) c.580A>C (p.Arg194=) c.471A>C c.730A>C (p.Arg244=) n.232A>C c.538A>C (p.Arg180=) c.448-2516A>C (n.448-2516A>C) | |
1 | g.77926800A>G | CA340874065 | NEXN | c.772A>G (p.Arg258Gly) c.580A>G (p.Arg194Gly) c.471A>G c.730A>G (p.Arg244Gly) n.232A>G c.538A>G (p.Arg180Gly) c.448-2516A>G (n.448-2516A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.77926800A>T | CA340874070 | NEXN | c.772A>T (p.Arg258Ter) c.580A>T (p.Arg194Ter) c.471A>T c.730A>T (p.Arg244Ter) n.232A>T c.538A>T (p.Arg180Ter) c.448-2516A>T (n.448-2516A>T) | |
1 | g.77926801G>A | CA340874072 | NEXN | c.773G>A (p.Arg258Lys) c.581G>A (p.Arg194Lys) c.472G>A c.731G>A (p.Arg244Lys) n.233G>A c.539G>A (p.Arg180Lys) c.448-2515G>A (n.448-2515G>A) | |
1 | g.77926801G>C | CA340874073 | NEXN | c.773G>C (p.Arg258Thr) c.581G>C (p.Arg194Thr) c.472G>C c.731G>C (p.Arg244Thr) n.233G>C c.539G>C (p.Arg180Thr) c.448-2515G>C (n.448-2515G>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.77926801G= | CA1177623815 | NEXN | c.773G= (p.Arg258=) c.581G= (p.Arg194=) c.472G= c.731G= (p.Arg244=) n.233G= c.539G= (p.Arg180=) c.448-2515G= (n.448-2515G=) | |
1 | g.77926801G>T | CA340874076 | NEXN | c.773G>T (p.Arg258Ile) c.581G>T (p.Arg194Ile) c.472G>T c.731G>T (p.Arg244Ile) n.233G>T c.539G>T (p.Arg180Ile) c.448-2515G>T (n.448-2515G>T) | |
1 | g.77926802A= | CA1177623816 | NEXN | c.774A= (p.Arg258=) c.582A= (p.Arg194=) c.473A= c.732A= (p.Arg244=) n.234A= c.540A= (p.Arg180=) c.448-2514A= (n.448-2514A=) | |
1 | g.77926802A>C | CA340874078 | NEXN | c.774A>C (p.Arg258Ser) c.582A>C (p.Arg194Ser) c.473A>C c.732A>C (p.Arg244Ser) n.234A>C c.540A>C (p.Arg180Ser) c.448-2514A>C (n.448-2514A>C) | ClinVar dbSNP |
1 | g.77926802A>G | CA418709300 | NEXN | c.774A>G (p.Arg258=) c.582A>G (p.Arg194=) c.473A>G c.732A>G (p.Arg244=) n.234A>G c.540A>G (p.Arg180=) c.448-2514A>G (n.448-2514A>G) | dbSNP |
1 | g.77926802A>T | CA340874077 | NEXN | c.774A>T (p.Arg258Ser) c.582A>T (p.Arg194Ser) c.473A>T c.732A>T (p.Arg244Ser) n.234A>T c.540A>T (p.Arg180Ser) c.448-2514A>T (n.448-2514A>T) | |
1 | g.77926803_77926809del | CA2646304755 | NEXN | c.775_781del (p.Gln259ThrfsTer14) c.583_589del (p.Gln195ThrfsTer14) c.474_480del c.733_739del (p.Gln245ThrfsTer14) n.235_241del c.541_547del (p.Gln181ThrfsTer14) c.448-2513_448-2507del (n.448-2513_448-2507del) | gnomAD v4 |
1 | g.77926803C>A | CA340874082 | NEXN | c.775C>A (p.Gln259Lys) c.583C>A (p.Gln195Lys) c.474C>A c.733C>A (p.Gln245Lys) n.235C>A c.541C>A (p.Gln181Lys) c.448-2513C>A (n.448-2513C>A) | |
1 | g.77926803C>G | CA340874094 | NEXN | c.775C>G (p.Gln259Glu) c.583C>G (p.Gln195Glu) c.474C>G c.733C>G (p.Gln245Glu) n.235C>G c.541C>G (p.Gln181Glu) c.448-2513C>G (n.448-2513C>G) | |
1 | g.77926803C>T | CA340874096 | NEXN | c.775C>T (p.Gln259Ter) c.583C>T (p.Gln195Ter) c.474C>T c.733C>T (p.Gln245Ter) n.235C>T c.541C>T (p.Gln181Ter) c.448-2513C>T (n.448-2513C>T) | |
1 | g.77926804A>C | CA340874104 | NEXN | c.776A>C (p.Gln259Pro) c.584A>C (p.Gln195Pro) c.475A>C c.734A>C (p.Gln245Pro) n.236A>C c.542A>C (p.Gln181Pro) c.448-2512A>C (n.448-2512A>C) | |
1 | g.77926804A>G | CA340874105 | NEXN | c.776A>G (p.Gln259Arg) c.584A>G (p.Gln195Arg) c.475A>G c.734A>G (p.Gln245Arg) n.236A>G c.542A>G (p.Gln181Arg) c.448-2512A>G (n.448-2512A>G) | |
1 | g.77926804A>T | CA340874108 | NEXN | c.776A>T (p.Gln259Leu) c.584A>T (p.Gln195Leu) c.475A>T c.734A>T (p.Gln245Leu) n.236A>T c.542A>T (p.Gln181Leu) c.448-2512A>T (n.448-2512A>T) | |
1 | g.77926805A= | CA1144067633 | NEXN | c.777A= (p.Gln259=) c.585A= (p.Gln195=) c.476A= c.735A= (p.Gln245=) n.237A= c.543A= (p.Gln181=) c.448-2511A= (n.448-2511A=) | |
1 | g.77926805A>C | CA340874115 | NEXN | c.777A>C (p.Gln259His) c.585A>C (p.Gln195His) c.476A>C c.735A>C (p.Gln245His) n.237A>C c.543A>C (p.Gln181His) c.448-2511A>C (n.448-2511A>C) | |
1 | g.77926805A>G | CA142171 | NEXN | c.777A>G (p.Gln259=) c.585A>G (p.Gln195=) c.476A>G c.735A>G (p.Gln245=) n.237A>G c.543A>G (p.Gln181=) c.448-2511A>G (n.448-2511A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.77926805A>T | CA340874119 | NEXN | c.777A>T (p.Gln259His) c.585A>T (p.Gln195His) c.476A>T c.735A>T (p.Gln245His) n.237A>T c.543A>T (p.Gln181His) c.448-2511A>T (n.448-2511A>T) | |
1 | g.77926806G>A | CA340874123 | NEXN | c.778G>A (p.Glu260Lys) c.586G>A (p.Glu196Lys) c.477G>A c.736G>A (p.Glu246Lys) n.238G>A c.544G>A (p.Glu182Lys) c.448-2510G>A (n.448-2510G>A) | |
1 | g.77926806G>C | CA340874125 | NEXN | c.778G>C (p.Glu260Gln) c.586G>C (p.Glu196Gln) c.477G>C c.736G>C (p.Glu246Gln) n.238G>C c.544G>C (p.Glu182Gln) c.448-2510G>C (n.448-2510G>C) | dbSNP |
1 | g.77926806G= | CA1177623817 | NEXN | c.778G= (p.Glu260=) c.586G= (p.Glu196=) c.477G= c.736G= (p.Glu246=) n.238G= c.544G= (p.Glu182=) c.448-2510G= (n.448-2510G=) | |
1 | g.77926806G>T | CA340874128 | NEXN | c.778G>T (p.Glu260Ter) c.586G>T (p.Glu196Ter) c.477G>T c.736G>T (p.Glu246Ter) n.238G>T c.544G>T (p.Glu182Ter) c.448-2510G>T (n.448-2510G>T) | |
1 | g.77926807A>C | CA340874132 | NEXN | c.779A>C (p.Glu260Ala) c.587A>C (p.Glu196Ala) c.478A>C c.737A>C (p.Glu246Ala) n.239A>C c.545A>C (p.Glu182Ala) c.448-2509A>C (n.448-2509A>C) | |
1 | g.77926807A>G | CA340874139 | NEXN | c.779A>G (p.Glu260Gly) c.587A>G (p.Glu196Gly) c.478A>G c.737A>G (p.Glu246Gly) n.239A>G c.545A>G (p.Glu182Gly) c.448-2509A>G (n.448-2509A>G) | |
1 | g.77926807A>T | CA340874142 | NEXN | c.779A>T (p.Glu260Val) c.587A>T (p.Glu196Val) c.478A>T c.737A>T (p.Glu246Val) n.239A>T c.545A>T (p.Glu182Val) c.448-2509A>T (n.448-2509A>T) | |
1 | g.77926810dup | CA918729 | NEXN | c.782dup (p.Asn261LysfsTer7) c.590dup (p.Asn197LysfsTer7) c.481dup c.740dup (p.Asn247LysfsTer7) n.242dup c.548dup (p.Asn183LysfsTer7) c.448-2506dup (n.448-2506dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.77926808A>C | CA340874147 | NEXN | c.780A>C (p.Glu260Asp) c.588A>C (p.Glu196Asp) c.479A>C c.738A>C (p.Glu246Asp) n.240A>C c.546A>C (p.Glu182Asp) c.448-2508A>C (n.448-2508A>C) | |
1 | g.77926808A>G | CA418709301 | NEXN | c.780A>G (p.Glu260=) c.588A>G (p.Glu196=) c.479A>G c.738A>G (p.Glu246=) n.240A>G c.546A>G (p.Glu182=) c.448-2508A>G (n.448-2508A>G) | |
1 | g.77926808A>T | CA340874152 | NEXN | c.780A>T (p.Glu260Asp) c.588A>T (p.Glu196Asp) c.479A>T c.738A>T (p.Glu246Asp) n.240A>T c.546A>T (p.Glu182Asp) c.448-2508A>T (n.448-2508A>T) | |
1 | g.77926809A>C | CA340874154 | NEXN | c.781A>C (p.Asn261His) c.589A>C (p.Asn197His) c.480A>C c.739A>C (p.Asn247His) n.241A>C c.547A>C (p.Asn183His) c.448-2507A>C (n.448-2507A>C) | |
1 | g.77926809A>G | CA340874157 | NEXN | c.781A>G (p.Asn261Asp) c.589A>G (p.Asn197Asp) c.480A>G c.739A>G (p.Asn247Asp) n.241A>G c.547A>G (p.Asn183Asp) c.448-2507A>G (n.448-2507A>G) | |
1 | g.77926809A>T | CA340874160 | NEXN | c.781A>T (p.Asn261Tyr) c.589A>T (p.Asn197Tyr) c.480A>T c.739A>T (p.Asn247Tyr) n.241A>T c.547A>T (p.Asn183Tyr) c.448-2507A>T (n.448-2507A>T) | |
1 | g.77926810A>C | CA340874164 | NEXN | c.782A>C (p.Asn261Thr) c.590A>C (p.Asn197Thr) c.481A>C c.740A>C (p.Asn247Thr) n.242A>C c.548A>C (p.Asn183Thr) c.448-2506A>C (n.448-2506A>C) | |
1 | g.77926810A>G | CA340874173 | NEXN | c.782A>G (p.Asn261Ser) c.590A>G (p.Asn197Ser) c.481A>G c.740A>G (p.Asn247Ser) n.242A>G c.548A>G (p.Asn183Ser) c.448-2506A>G (n.448-2506A>G) | |
1 | g.77926810A>T | CA340874167 | NEXN | c.782A>T (p.Asn261Ile) c.590A>T (p.Asn197Ile) c.481A>T c.740A>T (p.Asn247Ile) n.242A>T c.548A>T (p.Asn183Ile) c.448-2506A>T (n.448-2506A>T) | |
1 | g.77926811C>A | CA340874175 | NEXN | c.783C>A (p.Asn261Lys) c.591C>A (p.Asn197Lys) c.482C>A c.741C>A (p.Asn247Lys) n.243C>A c.549C>A (p.Asn183Lys) c.448-2505C>A (n.448-2505C>A) | |
1 | g.77926811C= | CA1143604195 | NEXN | c.783C= (p.Asn261=) c.591C= (p.Asn197=) c.482C= c.741C= (p.Asn247=) n.243C= c.549C= (p.Asn183=) c.448-2505C= (n.448-2505C=) | |
1 | g.77926811C>G | CA918730 | NEXN | c.783C>G (p.Asn261Lys) c.591C>G (p.Asn197Lys) c.482C>G c.741C>G (p.Asn247Lys) n.243C>G c.549C>G (p.Asn183Lys) c.448-2505C>G (n.448-2505C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.77926811C>T | CA418709302 | NEXN | c.783C>T (p.Asn261=) c.591C>T (p.Asn197=) c.482C>T c.741C>T (p.Asn247=) n.243C>T c.549C>T (p.Asn183=) c.448-2505C>T (n.448-2505C>T) | gnomAD v4 |
1 | g.77926812C>A | CA418709303 | NEXN | c.784C>A (p.Arg262=) c.592C>A (p.Arg198=) c.483C>A c.742C>A (p.Arg248=) n.244C>A c.550C>A (p.Arg184=) c.448-2504C>A (n.448-2504C>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.77926812C= | CA1177623818 | NEXN | c.784C= (p.Arg262=) c.592C= (p.Arg198=) c.483C= c.742C= (p.Arg248=) n.244C= c.550C= (p.Arg184=) c.448-2504C= (n.448-2504C=) | |
1 | g.77926812C>G | CA340874184 | NEXN | c.784C>G (p.Arg262Gly) c.592C>G (p.Arg198Gly) c.483C>G c.742C>G (p.Arg248Gly) n.244C>G c.550C>G (p.Arg184Gly) c.448-2504C>G (n.448-2504C>G) | |
1 | g.77926812C>T | CA24678790 | NEXN | c.784C>T (p.Arg262Ter) c.592C>T (p.Arg198Ter) c.483C>T c.742C>T (p.Arg248Ter) n.244C>T c.550C>T (p.Arg184Ter) c.448-2504C>T (n.448-2504C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.77926813G>A | CA918732 | NEXN | c.785G>A (p.Arg262Gln) c.593G>A (p.Arg198Gln) c.484G>A c.743G>A (p.Arg248Gln) n.245G>A c.551G>A (p.Arg184Gln) c.448-2503G>A (n.448-2503G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.77926813G>C | CA340874191 | NEXN | c.785G>C (p.Arg262Pro) c.593G>C (p.Arg198Pro) c.484G>C c.743G>C (p.Arg248Pro) n.245G>C c.551G>C (p.Arg184Pro) c.448-2503G>C (n.448-2503G>C) | |
1 | g.77926813G= | CA1143697067 | NEXN | c.785G= (p.Arg262=) c.593G= (p.Arg198=) c.484G= c.743G= (p.Arg248=) n.245G= c.551G= (p.Arg184=) c.448-2503G= (n.448-2503G=) | |
1 | g.77926813G>T | CA918731 | NEXN | c.785G>T (p.Arg262Leu) c.593G>T (p.Arg198Leu) c.484G>T c.743G>T (p.Arg248Leu) n.245G>T c.551G>T (p.Arg184Leu) c.448-2503G>T (n.448-2503G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.77926814A>C | CA418709304 | NEXN | c.786A>C (p.Arg262=) c.594A>C (p.Arg198=) c.485A>C c.744A>C (p.Arg248=) n.246A>C c.552A>C (p.Arg184=) c.448-2502A>C (n.448-2502A>C) | |
1 | g.77926814A>G | CA418709305 | NEXN | c.786A>G (p.Arg262=) c.594A>G (p.Arg198=) c.485A>G c.744A>G (p.Arg248=) n.246A>G c.552A>G (p.Arg184=) c.448-2502A>G (n.448-2502A>G) | |
1 | g.77926814A>T | CA418709306 | NEXN | c.786A>T (p.Arg262=) c.594A>T (p.Arg198=) c.485A>T c.744A>T (p.Arg248=) n.246A>T c.552A>T (p.Arg184=) c.448-2502A>T (n.448-2502A>T) | |
1 | g.77926815A>C | CA340874195 | NEXN | c.787A>C (p.Lys263Gln) c.595A>C (p.Lys199Gln) c.486A>C c.745A>C (p.Lys249Gln) n.247A>C c.553A>C (p.Lys185Gln) c.448-2501A>C (n.448-2501A>C) | |
1 | g.77926815A>G | CA340874202 | NEXN | c.787A>G (p.Lys263Glu) c.595A>G (p.Lys199Glu) c.486A>G c.745A>G (p.Lys249Glu) n.247A>G c.553A>G (p.Lys185Glu) c.448-2501A>G (n.448-2501A>G) | |
1 | g.77926815A>T | CA340874205 | NEXN | c.787A>T (p.Lys263Ter) c.595A>T (p.Lys199Ter) c.486A>T c.745A>T (p.Lys249Ter) n.247A>T c.553A>T (p.Lys185Ter) c.448-2501A>T (n.448-2501A>T) | |
1 | g.77926818_77926820del | CA2646304756 | NEXN | c.790_792del (p.Lys264del) c.598_600del (p.Lys200del) c.489_491del c.748_750del (p.Lys250del) n.250_252del c.556_558del (p.Lys186del) c.448-2498_448-2496del (n.448-2498_448-2496del) | gnomAD v4 |
1 | g.77926816A>C | CA340874208 | NEXN | c.788A>C (p.Lys263Thr) c.596A>C (p.Lys199Thr) c.487A>C c.746A>C (p.Lys249Thr) n.248A>C c.554A>C (p.Lys185Thr) c.448-2500A>C (n.448-2500A>C) | |
1 | g.77926816A>G | CA340874209 | NEXN | c.788A>G (p.Lys263Arg) c.596A>G (p.Lys199Arg) c.487A>G c.746A>G (p.Lys249Arg) n.248A>G c.554A>G (p.Lys185Arg) c.448-2500A>G (n.448-2500A>G) | |
1 | g.77926816A>T | CA340874215 | NEXN | c.788A>T (p.Lys263Met) c.596A>T (p.Lys199Met) c.487A>T c.746A>T (p.Lys249Met) n.248A>T c.554A>T (p.Lys185Met) c.448-2500A>T (n.448-2500A>T) | |
1 | g.77926817G>A | CA918733 | NEXN | c.789G>A (p.Lys263=) c.597G>A (p.Lys199=) c.488G>A c.747G>A (p.Lys249=) n.249G>A c.555G>A (p.Lys185=) c.448-2499G>A (n.448-2499G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.77926817G>C | CA340874227 | NEXN | c.789G>C (p.Lys263Asn) c.597G>C (p.Lys199Asn) c.488G>C c.747G>C (p.Lys249Asn) n.249G>C c.555G>C (p.Lys185Asn) c.448-2499G>C (n.448-2499G>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.77926817G= | CA1177623819 | NEXN | c.789G= (p.Lys263=) c.597G= (p.Lys199=) c.488G= c.747G= (p.Lys249=) n.249G= c.555G= (p.Lys185=) c.448-2499G= (n.448-2499G=) | |
1 | g.77926817G>T | CA340874225 | NEXN | c.789G>T (p.Lys263Asn) c.597G>T (p.Lys199Asn) c.488G>T c.747G>T (p.Lys249Asn) n.249G>T c.555G>T (p.Lys185Asn) c.448-2499G>T (n.448-2499G>T) | |
1 | g.77926818A= | CA1177623820 | NEXN | c.790A= (p.Lys264=) c.598A= (p.Lys200=) c.489A= c.748A= (p.Lys250=) n.250A= c.556A= (p.Lys186=) c.448-2498A= (n.448-2498A=) | |
1 | g.77926818A>C | CA24678806 | NEXN | c.790A>C (p.Lys264Gln) c.598A>C (p.Lys200Gln) c.489A>C c.748A>C (p.Lys250Gln) n.250A>C c.556A>C (p.Lys186Gln) c.448-2498A>C (n.448-2498A>C) | ClinVar dbSNP gnomAD v4 |
1 | g.77926818A>G | CA340874235 | NEXN | c.790A>G (p.Lys264Glu) c.598A>G (p.Lys200Glu) c.489A>G c.748A>G (p.Lys250Glu) n.250A>G c.556A>G (p.Lys186Glu) c.448-2498A>G (n.448-2498A>G) | gnomAD v4 |
1 | g.77926818A>T | CA340874237 | NEXN | c.790A>T (p.Lys264Ter) c.598A>T (p.Lys200Ter) c.489A>T c.748A>T (p.Lys250Ter) n.250A>T c.556A>T (p.Lys186Ter) c.448-2498A>T (n.448-2498A>T) | |
1 | g.77926822_77926825del | CA2744231880 | NEXN | c.794_797del (p.Gln265LeufsTer9) c.602_605del (p.Gln201LeufsTer9) c.493_496del c.752_755del (p.Gln251LeufsTer9) n.254_257del c.560_563del (p.Gln187LeufsTer9) c.448-2494_448-2491del (n.448-2494_448-2491del) | |
1 | g.77926819A>C | CA340874240 | NEXN | c.791A>C (p.Lys264Thr) c.599A>C (p.Lys200Thr) c.490A>C c.749A>C (p.Lys250Thr) n.251A>C c.557A>C (p.Lys186Thr) c.448-2497A>C (n.448-2497A>C) | |
1 | g.77926819A>G | CA340874248 | NEXN | c.791A>G (p.Lys264Arg) c.599A>G (p.Lys200Arg) c.490A>G c.749A>G (p.Lys250Arg) n.251A>G c.557A>G (p.Lys186Arg) c.448-2497A>G (n.448-2497A>G) | |
1 | g.77926819A>T | CA340874251 | NEXN | c.791A>T (p.Lys264Met) c.599A>T (p.Lys200Met) c.490A>T c.749A>T (p.Lys250Met) n.251A>T c.557A>T (p.Lys186Met) c.448-2497A>T (n.448-2497A>T) | |
1 | g.77926820G>A | CA418709307 | NEXN | c.792G>A (p.Lys264=) c.600G>A (p.Lys200=) c.491G>A c.750G>A (p.Lys250=) n.252G>A c.558G>A (p.Lys186=) c.448-2496G>A (n.448-2496G>A) | |
1 | g.77926820G>C | CA340874253 | NEXN | c.792G>C (p.Lys264Asn) c.600G>C (p.Lys200Asn) c.491G>C c.750G>C (p.Lys250Asn) n.252G>C c.558G>C (p.Lys186Asn) c.448-2496G>C (n.448-2496G>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.77926820G= | CA1177623821 | NEXN | c.792G= (p.Lys264=) c.600G= (p.Lys200=) c.491G= c.750G= (p.Lys250=) n.252G= c.558G= (p.Lys186=) c.448-2496G= (n.448-2496G=) | |
1 | g.77926820G>T | CA340874260 | NEXN | c.792G>T (p.Lys264Asn) c.600G>T (p.Lys200Asn) c.491G>T c.750G>T (p.Lys250Asn) n.252G>T c.558G>T (p.Lys186Asn) c.448-2496G>T (n.448-2496G>T) | |
1 | g.77926821C>A | CA918734 | NEXN | c.793C>A (p.Gln265Lys) c.601C>A (p.Gln201Lys) c.492C>A c.751C>A (p.Gln251Lys) n.253C>A c.559C>A (p.Gln187Lys) c.448-2495C>A (n.448-2495C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.77926821C= | CA1177623822 | NEXN | c.793C= (p.Gln265=) c.601C= (p.Gln201=) c.492C= c.751C= (p.Gln251=) n.253C= c.559C= (p.Gln187=) c.448-2495C= (n.448-2495C=) | |
1 | g.77926821C>G | CA340874267 | NEXN | c.793C>G (p.Gln265Glu) c.601C>G (p.Gln201Glu) c.492C>G c.751C>G (p.Gln251Glu) n.253C>G c.559C>G (p.Gln187Glu) c.448-2495C>G (n.448-2495C>G) | |
1 | g.77926821C>T | CA340874273 | NEXN | c.793C>T (p.Gln265Ter) c.601C>T (p.Gln201Ter) c.492C>T c.751C>T (p.Gln251Ter) n.253C>T c.559C>T (p.Gln187Ter) c.448-2495C>T (n.448-2495C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.77926822A= | CA1177623823 | NEXN | c.794A= (p.Gln265=) c.602A= (p.Gln201=) c.493A= c.752A= (p.Gln251=) n.254A= c.560A= (p.Gln187=) c.448-2494A= (n.448-2494A=) | |
1 | g.77926822A>C | CA340874277 | NEXN | c.794A>C (p.Gln265Pro) c.602A>C (p.Gln201Pro) c.493A>C c.752A>C (p.Gln251Pro) n.254A>C c.560A>C (p.Gln187Pro) c.448-2494A>C (n.448-2494A>C) | ClinVar dbSNP |
1 | g.77926822A>G | CA340874278 | NEXN | c.794A>G (p.Gln265Arg) c.602A>G (p.Gln201Arg) c.493A>G c.752A>G (p.Gln251Arg) n.254A>G c.560A>G (p.Gln187Arg) c.448-2494A>G (n.448-2494A>G) | |
1 | g.77926822A>T | CA340874276 | NEXN | c.794A>T (p.Gln265Leu) c.602A>T (p.Gln201Leu) c.493A>T c.752A>T (p.Gln251Leu) n.254A>T c.560A>T (p.Gln187Leu) c.448-2494A>T (n.448-2494A>T) | |
1 | g.77926823A>C | CA340874285 | NEXN | c.795A>C (p.Gln265His) c.603A>C (p.Gln201His) c.494A>C c.753A>C (p.Gln251His) n.255A>C c.561A>C (p.Gln187His) c.448-2493A>C (n.448-2493A>C) | |
1 | g.77926823A>G | CA418709308 | NEXN | c.795A>G (p.Gln265=) c.603A>G (p.Gln201=) c.494A>G c.753A>G (p.Gln251=) n.255A>G c.561A>G (p.Gln187=) c.448-2493A>G (n.448-2493A>G) | |
1 | g.77926823A>T | CA340874279 | NEXN | c.795A>T (p.Gln265His) c.603A>T (p.Gln201His) c.494A>T c.753A>T (p.Gln251His) n.255A>T c.561A>T (p.Gln187His) c.448-2493A>T (n.448-2493A>T) | |
1 | g.77926824G>A | CA340874294 | NEXN | c.796G>A (p.Ala266Thr) c.604G>A (p.Ala202Thr) c.495G>A c.754G>A (p.Ala252Thr) n.256G>A c.562G>A (p.Ala188Thr) c.448-2492G>A (n.448-2492G>A) | |
1 | g.77926824G>C | CA340874289 | NEXN | c.796G>C (p.Ala266Pro) c.604G>C (p.Ala202Pro) c.495G>C c.754G>C (p.Ala252Pro) n.256G>C c.562G>C (p.Ala188Pro) c.448-2492G>C (n.448-2492G>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.77926824G= | CA1177623824 | NEXN | c.796G= (p.Ala266=) c.604G= (p.Ala202=) c.495G= c.754G= (p.Ala252=) n.256G= c.562G= (p.Ala188=) c.448-2492G= (n.448-2492G=) | |
1 | g.77926824G>T | CA340874292 | NEXN | c.796G>T (p.Ala266Ser) c.604G>T (p.Ala202Ser) c.495G>T c.754G>T (p.Ala252Ser) n.256G>T c.562G>T (p.Ala188Ser) c.448-2492G>T (n.448-2492G>T) | |
1 | g.77926825C>A | CA340874297 | NEXN | c.797C>A (p.Ala266Asp) c.605C>A (p.Ala202Asp) c.496C>A c.755C>A (p.Ala252Asp) n.257C>A c.563C>A (p.Ala188Asp) c.448-2491C>A (n.448-2491C>A) | |
1 | g.77926825C= | CA1177623825 | NEXN | c.797C= (p.Ala266=) c.605C= (p.Ala202=) c.496C= c.755C= (p.Ala252=) n.257C= c.563C= (p.Ala188=) c.448-2491C= (n.448-2491C=) | |
1 | g.77926825C>G | CA340874300 | NEXN | c.797C>G (p.Ala266Gly) c.605C>G (p.Ala202Gly) c.496C>G c.755C>G (p.Ala252Gly) n.257C>G c.563C>G (p.Ala188Gly) c.448-2491C>G (n.448-2491C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.77926825C>T | CA340874303 | NEXN | c.797C>T (p.Ala266Val) c.605C>T (p.Ala202Val) c.496C>T c.755C>T (p.Ala252Val) n.257C>T c.563C>T (p.Ala188Val) c.448-2491C>T (n.448-2491C>T) | |
1 | g.77926826del | CA2740090534 | NEXN | c.798del (p.Glu267LysfsTer8) c.606del (p.Glu203LysfsTer8) c.497del c.756del (p.Glu253LysfsTer8) n.258del c.564del (p.Glu189LysfsTer8) c.448-2490del (n.448-2490del) | ClinVar |
1 | g.77926826T>A | CA418709309 | NEXN | c.798T>A (p.Ala266=) c.606T>A (p.Ala202=) c.497T>A c.756T>A (p.Ala252=) n.258T>A c.564T>A (p.Ala188=) c.448-2490T>A (n.448-2490T>A) | COSMIC COSMIC |
1 | g.77926826T>C | CA418709310 | NEXN | c.798T>C (p.Ala266=) c.606T>C (p.Ala202=) c.497T>C c.756T>C (p.Ala252=) n.258T>C c.564T>C (p.Ala188=) c.448-2490T>C (n.448-2490T>C) | |
1 | g.77926826T>G | CA418709311 | NEXN | c.798T>G (p.Ala266=) c.606T>G (p.Ala202=) c.497T>G c.756T>G (p.Ala252=) n.258T>G c.564T>G (p.Ala188=) c.448-2490T>G (n.448-2490T>G) | |
1 | g.77926827G>A | CA340874306 | NEXN | c.799G>A (p.Glu267Lys) c.607G>A (p.Glu203Lys) c.498G>A c.757G>A (p.Glu253Lys) n.259G>A c.565G>A (p.Glu189Lys) c.448-2489G>A (n.448-2489G>A) | |
1 | g.77926827G>C | CA340874310 | NEXN | c.799G>C (p.Glu267Gln) c.607G>C (p.Glu203Gln) c.498G>C c.757G>C (p.Glu253Gln) n.259G>C c.565G>C (p.Glu189Gln) c.448-2489G>C (n.448-2489G>C) | |
1 | g.77926827G= | CA1177623826 | NEXN | c.799G= (p.Glu267=) c.607G= (p.Glu203=) c.498G= c.757G= (p.Glu253=) n.259G= c.565G= (p.Glu189=) c.448-2489G= (n.448-2489G=) | |
1 | g.77926827G>T | CA918735 | NEXN | c.799G>T (p.Glu267Ter) c.607G>T (p.Glu203Ter) c.498G>T c.757G>T (p.Glu253Ter) n.259G>T c.565G>T (p.Glu189Ter) c.448-2489G>T (n.448-2489G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.77926828A>C | CA340874312 | NEXN | c.800A>C (p.Glu267Ala) c.608A>C (p.Glu203Ala) c.499A>C c.758A>C (p.Glu253Ala) n.260A>C c.566A>C (p.Glu189Ala) c.448-2488A>C (n.448-2488A>C) | |
1 | g.77926828A>G | CA340874316 | NEXN | c.800A>G (p.Glu267Gly) c.608A>G (p.Glu203Gly) c.499A>G c.758A>G (p.Glu253Gly) n.260A>G c.566A>G (p.Glu189Gly) c.448-2488A>G (n.448-2488A>G) | |
1 | g.77926828A>T | CA340874319 | NEXN | c.800A>T (p.Glu267Val) c.608A>T (p.Glu203Val) c.499A>T c.758A>T (p.Glu253Val) n.260A>T c.566A>T (p.Glu189Val) c.448-2488A>T (n.448-2488A>T) | |
1 | g.77926829A>C | CA340874320 | NEXN | c.801A>C (p.Glu267Asp) c.609A>C (p.Glu203Asp) c.500A>C c.759A>C (p.Glu253Asp) n.261A>C c.567A>C (p.Glu189Asp) c.448-2487A>C (n.448-2487A>C) | gnomAD v4 |
1 | g.77926829A>G | CA418709312 | NEXN | c.801A>G (p.Glu267=) c.609A>G (p.Glu203=) c.500A>G c.759A>G (p.Glu253=) n.261A>G c.567A>G (p.Glu189=) c.448-2487A>G (n.448-2487A>G) | |
1 | g.77926829A>T | CA340874321 | NEXN | c.801A>T (p.Glu267Asp) c.609A>T (p.Glu203Asp) c.500A>T c.759A>T (p.Glu253Asp) n.261A>T c.567A>T (p.Glu189Asp) c.448-2487A>T (n.448-2487A>T) | |
1 | g.77926830G>A | CA340874324 | NEXN | c.802G>A (p.Glu268Lys) c.610G>A (p.Glu204Lys) c.501G>A c.760G>A (p.Glu254Lys) n.262G>A c.568G>A (p.Glu190Lys) c.448-2486G>A (n.448-2486G>A) | |
1 | g.77926830G>C | CA340874323 | NEXN | c.802G>C (p.Glu268Gln) c.610G>C (p.Glu204Gln) c.501G>C c.760G>C (p.Glu254Gln) n.262G>C c.568G>C (p.Glu190Gln) c.448-2486G>C (n.448-2486G>C) | ClinVar gnomAD v4 |
1 | g.77926830G>T | CA340874322 | NEXN | c.802G>T (p.Glu268Ter) c.610G>T (p.Glu204Ter) c.501G>T c.760G>T (p.Glu254Ter) n.262G>T c.568G>T (p.Glu190Ter) c.448-2486G>T (n.448-2486G>T) | |
1 | g.77926831A= | CA1177623827 | NEXN | c.803A= (p.Glu268=) c.611A= (p.Glu204=) c.502A= c.761A= (p.Glu254=) n.263A= c.569A= (p.Glu190=) c.448-2485A= (n.448-2485A=) | |
1 | g.77926831A>C | CA340874326 | NEXN | c.803A>C (p.Glu268Ala) c.611A>C (p.Glu204Ala) c.502A>C c.761A>C (p.Glu254Ala) n.263A>C c.569A>C (p.Glu190Ala) c.448-2485A>C (n.448-2485A>C) | |
1 | g.77926831A>G | CA24678822 | NEXN | c.803A>G (p.Glu268Gly) c.611A>G (p.Glu204Gly) c.502A>G c.761A>G (p.Glu254Gly) n.263A>G c.569A>G (p.Glu190Gly) c.448-2485A>G (n.448-2485A>G) | ClinVar dbSNP gnomAD v2 |
1 | g.77926831A>T | CA340874329 | NEXN | c.803A>T (p.Glu268Val) c.611A>T (p.Glu204Val) c.502A>T c.761A>T (p.Glu254Val) n.263A>T c.569A>T (p.Glu190Val) c.448-2485A>T (n.448-2485A>T) | |
1 | g.77926832G>A | CA418709313 | NEXN | c.804G>A (p.Glu268=) c.612G>A (p.Glu204=) c.503G>A c.762G>A (p.Glu254=) n.264G>A c.570G>A (p.Glu190=) c.448-2484G>A (n.448-2484G>A) | |
1 | g.77926832G>C | CA340874332 | NEXN | c.804G>C (p.Glu268Asp) c.612G>C (p.Glu204Asp) c.503G>C c.762G>C (p.Glu254Asp) n.264G>C c.570G>C (p.Glu190Asp) c.448-2484G>C (n.448-2484G>C) | dbSNP |
1 | g.77926832G= | CA1177623828 | NEXN | c.804G= (p.Glu268=) c.612G= (p.Glu204=) c.503G= c.762G= (p.Glu254=) n.264G= c.570G= (p.Glu190=) c.448-2484G= (n.448-2484G=) | |
1 | g.77926832G>T | CA340874334 | NEXN | c.804G>T (p.Glu268Asp) c.612G>T (p.Glu204Asp) c.503G>T c.762G>T (p.Glu254Asp) n.264G>T c.570G>T (p.Glu190Asp) c.448-2484G>T (n.448-2484G>T) | |
1 | g.77926833G>A | CA340874340 | NEXN | c.805G>A (p.Glu269Lys) c.613G>A (p.Glu205Lys) c.504G>A c.763G>A (p.Glu255Lys) n.265G>A c.571G>A (p.Glu191Lys) c.448-2483G>A (n.448-2483G>A) | |
1 | g.77926833G>C | CA340874341 | NEXN | c.805G>C (p.Glu269Gln) c.613G>C (p.Glu205Gln) c.504G>C c.763G>C (p.Glu255Gln) n.265G>C c.571G>C (p.Glu191Gln) c.448-2483G>C (n.448-2483G>C) | |
1 | g.77926833G>T | CA340874342 | NEXN | c.805G>T (p.Glu269Ter) c.613G>T (p.Glu205Ter) c.504G>T c.763G>T (p.Glu255Ter) n.265G>T c.571G>T (p.Glu191Ter) c.448-2483G>T (n.448-2483G>T) | |
1 | g.77926834A>C | CA340874344 | NEXN | c.806A>C (p.Glu269Ala) c.614A>C (p.Glu205Ala) c.505A>C c.764A>C (p.Glu255Ala) n.266A>C c.572A>C (p.Glu191Ala) c.448-2482A>C (n.448-2482A>C) | |
1 | g.77926834A>G | CA340874347 | NEXN | c.806A>G (p.Glu269Gly) c.614A>G (p.Glu205Gly) c.505A>G c.764A>G (p.Glu255Gly) n.266A>G c.572A>G (p.Glu191Gly) c.448-2482A>G (n.448-2482A>G) | |
1 | g.77926834A>T | CA340874349 | NEXN | c.806A>T (p.Glu269Val) c.614A>T (p.Glu205Val) c.505A>T c.764A>T (p.Glu255Val) n.266A>T c.572A>T (p.Glu191Val) c.448-2482A>T (n.448-2482A>T) | |
1 | g.77926835A>C | CA340874353 | NEXN | c.807A>C (p.Glu269Asp) c.615A>C (p.Glu205Asp) c.506A>C c.765A>C (p.Glu255Asp) n.267A>C c.573A>C (p.Glu191Asp) c.448-2481A>C (n.448-2481A>C) | |
1 | g.77926835A>G | CA418709314 | NEXN | c.807A>G (p.Glu269=) c.615A>G (p.Glu205=) c.506A>G c.765A>G (p.Glu255=) n.267A>G c.573A>G (p.Glu191=) c.448-2481A>G (n.448-2481A>G) | gnomAD v4 |
1 | g.77926835A>T | CA340874356 | NEXN | c.807A>T (p.Glu269Asp) c.615A>T (p.Glu205Asp) c.506A>T c.765A>T (p.Glu255Asp) n.267A>T c.573A>T (p.Glu191Asp) c.448-2481A>T (n.448-2481A>T) | |
1 | g.77926836G>A | CA340874382 | NEXN | c.808G>A (p.Ala270Thr) c.616G>A (p.Ala206Thr) c.507G>A c.766G>A (p.Ala256Thr) n.268G>A c.574G>A (p.Ala192Thr) c.448-2480G>A (n.448-2480G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.77926836G>C | CA340874386 | NEXN | c.808G>C (p.Ala270Pro) c.616G>C (p.Ala206Pro) c.507G>C c.766G>C (p.Ala256Pro) n.268G>C c.574G>C (p.Ala192Pro) c.448-2480G>C (n.448-2480G>C) | |
1 | g.77926836G= | CA1177623829 | NEXN | c.808G= (p.Ala270=) c.616G= (p.Ala206=) c.507G= c.766G= (p.Ala256=) n.268G= c.574G= (p.Ala192=) c.448-2480G= (n.448-2480G=) | |
1 | g.77926836G>T | CA340874376 | NEXN | c.808G>T (p.Ala270Ser) c.616G>T (p.Ala206Ser) c.507G>T c.766G>T (p.Ala256Ser) n.268G>T c.574G>T (p.Ala192Ser) c.448-2480G>T (n.448-2480G>T) | |
1 | g.77926837C>A | CA340874391 | NEXN | c.809C>A (p.Ala270Glu) c.617C>A (p.Ala206Glu) c.508C>A c.767C>A (p.Ala256Glu) n.269C>A c.575C>A (p.Ala192Glu) c.448-2479C>A (n.448-2479C>A) | gnomAD v4 |
1 | g.77926837C= | CA1177623830 | NEXN | c.809C= (p.Ala270=) c.617C= (p.Ala206=) c.508C= c.767C= (p.Ala256=) n.269C= c.575C= (p.Ala192=) c.448-2479C= (n.448-2479C=) | |
1 | g.77926837C>G | CA340874396 | NEXN | c.809C>G (p.Ala270Gly) c.617C>G (p.Ala206Gly) c.508C>G c.767C>G (p.Ala256Gly) n.269C>G c.575C>G (p.Ala192Gly) c.448-2479C>G (n.448-2479C>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.77926837C>T | CA918736 | NEXN | c.809C>T (p.Ala270Val) c.617C>T (p.Ala206Val) c.508C>T c.767C>T (p.Ala256Val) n.269C>T c.575C>T (p.Ala192Val) c.448-2479C>T (n.448-2479C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.77926838A>C | CA418709315 | NEXN | c.810A>C (p.Ala270=) c.618A>C (p.Ala206=) c.509A>C c.768A>C (p.Ala256=) n.270A>C c.576A>C (p.Ala192=) c.448-2478A>C (n.448-2478A>C) | |
1 | g.77926838A>G | CA418709316 | NEXN | c.810A>G (p.Ala270=) c.618A>G (p.Ala206=) c.509A>G c.768A>G (p.Ala256=) n.270A>G c.576A>G (p.Ala192=) c.448-2478A>G (n.448-2478A>G) | |
1 | g.77926838A>T | CA418709317 | NEXN | c.810A>T (p.Ala270=) c.618A>T (p.Ala206=) c.509A>T c.768A>T (p.Ala256=) n.270A>T c.576A>T (p.Ala192=) c.448-2478A>T (n.448-2478A>T) | |
1 | g.77926839A>C | CA418709318 | NEXN | c.811A>C (p.Arg271=) c.619A>C (p.Arg207=) c.510A>C c.769A>C (p.Arg257=) n.271A>C c.577A>C (p.Arg193=) c.448-2477A>C (n.448-2477A>C) | |
1 | g.77926839A>G | CA340874401 | NEXN | c.811A>G (p.Arg271Gly) c.619A>G (p.Arg207Gly) c.510A>G c.769A>G (p.Arg257Gly) n.271A>G c.577A>G (p.Arg193Gly) c.448-2477A>G (n.448-2477A>G) | |
1 | g.77926839A>T | CA340874403 | NEXN | c.811A>T (p.Arg271Ter) c.619A>T (p.Arg207Ter) c.510A>T c.769A>T (p.Arg257Ter) n.271A>T c.577A>T (p.Arg193Ter) c.448-2477A>T (n.448-2477A>T) | |
1 | g.77926840G>A | CA340874406 | NEXN | c.812G>A (p.Arg271Lys) c.620G>A (p.Arg207Lys) c.511G>A c.770G>A (p.Arg257Lys) n.272G>A c.578G>A (p.Arg193Lys) c.448-2476G>A (n.448-2476G>A) | gnomAD v4 |
1 | g.77926840G>C | CA340874408 | NEXN | c.812G>C (p.Arg271Thr) c.620G>C (p.Arg207Thr) c.511G>C c.770G>C (p.Arg257Thr) n.272G>C c.578G>C (p.Arg193Thr) c.448-2476G>C (n.448-2476G>C) | |
1 | g.77926840G>T | CA340874410 | NEXN | c.812G>T (p.Arg271Ile) c.620G>T (p.Arg207Ile) c.511G>T c.770G>T (p.Arg257Ile) n.272G>T c.578G>T (p.Arg193Ile) c.448-2476G>T (n.448-2476G>T) | |
1 | g.77926841A>C | CA340874413 | NEXN | c.813A>C (p.Arg271Ser) c.621A>C (p.Arg207Ser) c.512A>C c.771A>C (p.Arg257Ser) n.273A>C c.579A>C (p.Arg193Ser) c.448-2475A>C (n.448-2475A>C) | |
1 | g.77926841A>G | CA418709319 | NEXN | c.813A>G (p.Arg271=) c.621A>G (p.Arg207=) c.512A>G c.771A>G (p.Arg257=) n.273A>G c.579A>G (p.Arg193=) c.448-2475A>G (n.448-2475A>G) | gnomAD v4 |
1 | g.77926841A>T | CA340874414 | NEXN | c.813A>T (p.Arg271Ser) c.621A>T (p.Arg207Ser) c.512A>T c.771A>T (p.Arg257Ser) n.273A>T c.579A>T (p.Arg193Ser) c.448-2475A>T (n.448-2475A>T) | |
1 | g.77926841_77926842insGG | CA2740090535 | NEXN | c.813_814insGG (p.Lys272GlyfsTer4) c.621_622insGG (p.Lys208GlyfsTer4) c.512_513insGG c.771_772insGG (p.Lys258GlyfsTer4) n.273_274insGG c.579_580insGG (p.Lys194GlyfsTer4) c.448-2475_448-2474insGG (n.448-2475_448-2474insGG) | ClinVar |
1 | g.77926842A>C | CA340874417 | NEXN | c.814A>C (p.Lys272Gln) c.622A>C (p.Lys208Gln) c.513A>C c.772A>C (p.Lys258Gln) n.274A>C c.580A>C (p.Lys194Gln) c.448-2474A>C (n.448-2474A>C) | |
1 | g.77926842A>G | CA340874419 | NEXN | c.814A>G (p.Lys272Glu) c.622A>G (p.Lys208Glu) c.513A>G c.772A>G (p.Lys258Glu) n.274A>G c.580A>G (p.Lys194Glu) c.448-2474A>G (n.448-2474A>G) | |
1 | g.77926842A>T | CA340874421 | NEXN | c.814A>T (p.Lys272Ter) c.622A>T (p.Lys208Ter) c.513A>T c.772A>T (p.Lys258Ter) n.274A>T c.580A>T (p.Lys194Ter) c.448-2474A>T (n.448-2474A>T) | |
1 | g.77926843A>C | CA340874424 | NEXN | c.815A>C (p.Lys272Thr) c.623A>C (p.Lys208Thr) c.514A>C c.773A>C (p.Lys258Thr) n.275A>C c.581A>C (p.Lys194Thr) c.448-2473A>C (n.448-2473A>C) | |
1 | g.77926843A>G | CA340874430 | NEXN | c.815A>G (p.Lys272Arg) c.623A>G (p.Lys208Arg) c.514A>G c.773A>G (p.Lys258Arg) n.275A>G c.581A>G (p.Lys194Arg) c.448-2473A>G (n.448-2473A>G) | |
1 | g.77926843A>T | CA340874426 | NEXN | c.815A>T (p.Lys272Ile) c.623A>T (p.Lys208Ile) c.514A>T c.773A>T (p.Lys258Ile) n.275A>T c.581A>T (p.Lys194Ile) c.448-2473A>T (n.448-2473A>T) | |
1 | g.77926844A= | CA1143828474 | NEXN | c.816A= (p.Lys272=) c.624A= (p.Lys208=) c.515A= c.774A= (p.Lys258=) n.276A= c.582A= (p.Lys194=) c.448-2472A= (n.448-2472A=) | |
1 | g.77926844A>C | CA340874433 | NEXN | c.816A>C (p.Lys272Asn) c.624A>C (p.Lys208Asn) c.515A>C c.774A>C (p.Lys258Asn) n.276A>C c.582A>C (p.Lys194Asn) c.448-2472A>C (n.448-2472A>C) | |
1 | g.77926844A>G | CA918737 | NEXN | c.816A>G (p.Lys272=) c.624A>G (p.Lys208=) c.515A>G c.774A>G (p.Lys258=) n.276A>G c.582A>G (p.Lys194=) c.448-2472A>G (n.448-2472A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.77926844A>T | CA340874438 | NEXN | c.816A>T (p.Lys272Asn) c.624A>T (p.Lys208Asn) c.515A>T c.774A>T (p.Lys258Asn) n.276A>T c.582A>T (p.Lys194Asn) c.448-2472A>T (n.448-2472A>T) | |
1 | g.77926845del | CA2573051623 | NEXN | c.817del (p.Arg273ValfsTer2) c.625del (p.Arg209ValfsTer2) c.516del c.775del (p.Arg259ValfsTer2) n.277del c.583del (p.Arg195ValfsTer2) c.448-2471del (n.448-2471del) | ClinVar dbSNP |
1 | g.77926845C>A | CA340874440 | NEXN | c.817C>A (p.Arg273Ser) c.625C>A (p.Arg209Ser) c.516C>A c.775C>A (p.Arg259Ser) n.277C>A c.583C>A (p.Arg195Ser) c.448-2471C>A (n.448-2471C>A) | |
1 | g.77926845C= | CA1177623831 | NEXN | c.817C= (p.Arg273=) c.625C= (p.Arg209=) c.516C= c.775C= (p.Arg259=) n.277C= c.583C= (p.Arg195=) c.448-2471C= (n.448-2471C=) | |
1 | g.77926845C>G | CA340874445 | NEXN | c.817C>G (p.Arg273Gly) c.625C>G (p.Arg209Gly) c.516C>G c.775C>G (p.Arg259Gly) n.277C>G c.583C>G (p.Arg195Gly) c.448-2471C>G (n.448-2471C>G) | |
1 | g.77926845C>T | CA10587439 | NEXN | c.817C>T (p.Arg273Cys) c.625C>T (p.Arg209Cys) c.516C>T c.775C>T (p.Arg259Cys) n.277C>T c.583C>T (p.Arg195Cys) c.448-2471C>T (n.448-2471C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.77926846G>A | CA918738 | NEXN | c.818G>A (p.Arg273His) c.626G>A (p.Arg209His) c.517G>A c.776G>A (p.Arg259His) n.278G>A c.584G>A (p.Arg195His) c.448-2470G>A (n.448-2470G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.77926846G>C | CA340874450 | NEXN | c.818G>C (p.Arg273Pro) c.626G>C (p.Arg209Pro) c.517G>C c.776G>C (p.Arg259Pro) n.278G>C c.584G>C (p.Arg195Pro) c.448-2470G>C (n.448-2470G>C) | |
1 | g.77926846G= | CA1177623832 | NEXN | c.818G= (p.Arg273=) c.626G= (p.Arg209=) c.517G= c.776G= (p.Arg259=) n.278G= c.584G= (p.Arg195=) c.448-2470G= (n.448-2470G=) | |
1 | g.77926846G>T | CA340874451 | NEXN | c.818G>T (p.Arg273Leu) c.626G>T (p.Arg209Leu) c.517G>T c.776G>T (p.Arg259Leu) n.278G>T c.584G>T (p.Arg195Leu) c.448-2470G>T (n.448-2470G>T) | |
1 | g.77926847T>A | CA418709320 | NEXN | c.819T>A (p.Arg273=) c.627T>A (p.Arg209=) c.518T>A c.777T>A (p.Arg259=) n.279T>A c.585T>A (p.Arg195=) c.448-2469T>A (n.448-2469T>A) | |
1 | g.77926847T>C | CA418709321 | NEXN | c.819T>C (p.Arg273=) c.627T>C (p.Arg209=) c.518T>C c.777T>C (p.Arg259=) n.279T>C c.585T>C (p.Arg195=) c.448-2469T>C (n.448-2469T>C) | |
1 | g.77926847T>G | CA418709322 | NEXN | c.819T>G (p.Arg273=) c.627T>G (p.Arg209=) c.518T>G c.777T>G (p.Arg259=) n.279T>G c.585T>G (p.Arg195=) c.448-2469T>G (n.448-2469T>G) | gnomAD v4 |
1 | g.77926848T>A | CA340874454 | NEXN | c.820T>A (p.Leu274Ile) c.628T>A (p.Leu210Ile) c.519T>A c.778T>A (p.Leu260Ile) n.280T>A c.586T>A (p.Leu196Ile) c.448-2468T>A (n.448-2468T>A) | |
1 | g.77926848T>C | CA418709323 | NEXN | c.820T>C (p.Leu274=) c.628T>C (p.Leu210=) c.519T>C c.778T>C (p.Leu260=) n.280T>C c.586T>C (p.Leu196=) c.448-2468T>C (n.448-2468T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.77926848T>G | CA340874457 | NEXN | c.820T>G (p.Leu274Val) c.628T>G (p.Leu210Val) c.519T>G c.778T>G (p.Leu260Val) n.280T>G c.586T>G (p.Leu196Val) c.448-2468T>G (n.448-2468T>G) | |
1 | g.77926848T= | CA1177623833 | NEXN | c.820T= (p.Leu274=) c.628T= (p.Leu210=) c.519T= c.778T= (p.Leu260=) n.280T= c.586T= (p.Leu196=) c.448-2468T= (n.448-2468T=) | |
1 | g.77926849T>A | CA340874461 | NEXN | c.821T>A (p.Leu274Ter) c.629T>A (p.Leu210Ter) c.520T>A c.779T>A (p.Leu260Ter) n.281T>A c.587T>A (p.Leu196Ter) c.448-2467T>A (n.448-2467T>A) | |
1 | g.77926849T>C | CA340874464 | NEXN | c.821T>C (p.Leu274Ser) c.629T>C (p.Leu210Ser) c.520T>C c.779T>C (p.Leu260Ser) n.281T>C c.587T>C (p.Leu196Ser) c.448-2467T>C (n.448-2467T>C) | ClinVar dbSNP |
1 | g.77926849T>G | CA340874459 | NEXN | c.821T>G (p.Leu274Ter) c.629T>G (p.Leu210Ter) c.520T>G c.779T>G (p.Leu260Ter) n.281T>G c.587T>G (p.Leu196Ter) c.448-2467T>G (n.448-2467T>G) | |
1 | g.77926849_77926852delinsTAGA | CA1177623834 | NEXN | c.821_824delinsTAGA (p.Leu274=) c.629_632delinsTAGA (p.Leu210=) c.520_523delinsTAGA c.779_782delinsTAGA (p.Leu260=) n.281_284delinsTAGA c.587_590delinsTAGA (p.Leu196=) c.448-2467_448-2464delinsTAGA (n.448-2467_448-2464delinsTAGA) | |
1 | g.77926850A>C | CA340874466 | NEXN | c.822A>C (p.Leu274Phe) c.630A>C (p.Leu210Phe) c.521A>C c.780A>C (p.Leu260Phe) n.282A>C c.588A>C (p.Leu196Phe) c.448-2466A>C (n.448-2466A>C) | |
1 | g.77926850A>G | CA418709324 | NEXN | c.822A>G (p.Leu274=) c.630A>G (p.Leu210=) c.521A>G c.780A>G (p.Leu260=) n.282A>G c.588A>G (p.Leu196=) c.448-2466A>G (n.448-2466A>G) | |
1 | g.77926850A>T | CA340874465 | NEXN | c.822A>T (p.Leu274Phe) c.630A>T (p.Leu210Phe) c.521A>T c.780A>T (p.Leu260Phe) n.282A>T c.588A>T (p.Leu196Phe) c.448-2466A>T (n.448-2466A>T) | |
1 | g.77926856_77926858del | CA918739 | NEXN | c.828_830del (p.Glu277del) c.636_638del (p.Glu213del) c.527_529del c.786_788del (p.Glu263del) n.288_290del c.594_596del (p.Glu199del) c.448-2460_448-2458del (n.448-2460_448-2458del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.77926851G>A | CA340874467 | NEXN | c.823G>A (p.Glu275Lys) c.631G>A (p.Glu211Lys) c.522G>A c.781G>A (p.Glu261Lys) n.283G>A c.589G>A (p.Glu197Lys) c.448-2465G>A (n.448-2465G>A) | |
1 | g.77926851G>C | CA340874468 | NEXN | c.823G>C (p.Glu275Gln) c.631G>C (p.Glu211Gln) c.522G>C c.781G>C (p.Glu261Gln) n.283G>C c.589G>C (p.Glu197Gln) c.448-2465G>C (n.448-2465G>C) | |
1 | g.77926851G>T | CA340874469 | NEXN | c.823G>T (p.Glu275Ter) c.631G>T (p.Glu211Ter) c.522G>T c.781G>T (p.Glu261Ter) n.283G>T c.589G>T (p.Glu197Ter) c.448-2465G>T (n.448-2465G>T) | |
1 | g.77926852A>C | CA340874470 | NEXN | c.824A>C (p.Glu275Ala) c.632A>C (p.Glu211Ala) c.523A>C c.782A>C (p.Glu261Ala) n.284A>C c.590A>C (p.Glu197Ala) c.448-2464A>C (n.448-2464A>C) | |
1 | g.77926852A>G | CA340874472 | NEXN | c.824A>G (p.Glu275Gly) c.632A>G (p.Glu211Gly) c.523A>G c.782A>G (p.Glu261Gly) n.284A>G c.590A>G (p.Glu197Gly) c.448-2464A>G (n.448-2464A>G) | |
1 | g.77926852A>T | CA340874475 | NEXN | c.824A>T (p.Glu275Val) c.632A>T (p.Glu211Val) c.523A>T c.782A>T (p.Glu261Val) n.284A>T c.590A>T (p.Glu197Val) c.448-2464A>T (n.448-2464A>T) | |
1 | g.77926853A>C | CA340874477 | NEXN | c.825A>C (p.Glu275Asp) c.633A>C (p.Glu211Asp) c.524A>C c.783A>C (p.Glu261Asp) n.285A>C c.591A>C (p.Glu197Asp) c.448-2463A>C (n.448-2463A>C) | |
1 | g.77926853A>G | CA418709325 | NEXN | c.825A>G (p.Glu275=) c.633A>G (p.Glu211=) c.524A>G c.783A>G (p.Glu261=) n.285A>G c.591A>G (p.Glu197=) c.448-2463A>G (n.448-2463A>G) | |
1 | g.77926853A>T | CA340874482 | NEXN | c.825A>T (p.Glu275Asp) c.633A>T (p.Glu211Asp) c.524A>T c.783A>T (p.Glu261Asp) n.285A>T c.591A>T (p.Glu197Asp) c.448-2463A>T (n.448-2463A>T) | |
1 | g.77926854G>A | CA340874485 | NEXN | c.826G>A (p.Glu276Lys) c.634G>A (p.Glu212Lys) c.525G>A c.784G>A (p.Glu262Lys) n.286G>A c.592G>A (p.Glu198Lys) c.448-2462G>A (n.448-2462G>A) | ClinVar dbSNP |
1 | g.77926854G>C | CA340874488 | NEXN | c.826G>C (p.Glu276Gln) c.634G>C (p.Glu212Gln) c.525G>C c.784G>C (p.Glu262Gln) n.286G>C c.592G>C (p.Glu198Gln) c.448-2462G>C (n.448-2462G>C) | gnomAD v4 |
1 | g.77926854G= | CA1177623835 | NEXN | c.826G= (p.Glu276=) c.634G= (p.Glu212=) c.525G= c.784G= (p.Glu262=) n.286G= c.592G= (p.Glu198=) c.448-2462G= (n.448-2462G=) | |
1 | g.77926854G>T | CA340874490 | NEXN | c.826G>T (p.Glu276Ter) c.634G>T (p.Glu212Ter) c.525G>T c.784G>T (p.Glu262Ter) n.286G>T c.592G>T (p.Glu198Ter) c.448-2462G>T (n.448-2462G>T) | gnomAD v4 |
1 | g.77926855A>C | CA340874497 | NEXN | c.827A>C (p.Glu276Ala) c.635A>C (p.Glu212Ala) c.526A>C c.785A>C (p.Glu262Ala) n.287A>C c.593A>C (p.Glu198Ala) c.448-2461A>C (n.448-2461A>C) | |
1 | g.77926855A>G | CA340874502 | NEXN | c.827A>G (p.Glu276Gly) c.635A>G (p.Glu212Gly) c.526A>G c.785A>G (p.Glu262Gly) n.287A>G c.593A>G (p.Glu198Gly) c.448-2461A>G (n.448-2461A>G) | |
1 | g.77926855A>T | CA340874499 | NEXN | c.827A>T (p.Glu276Val) c.635A>T (p.Glu212Val) c.526A>T c.785A>T (p.Glu262Val) n.287A>T c.593A>T (p.Glu198Val) c.448-2461A>T (n.448-2461A>T) | |
1 | g.77926856A= | CA1177623836 | NEXN | c.828A= (p.Glu276=) c.636A= (p.Glu212=) c.527A= c.786A= (p.Glu262=) n.288A= c.594A= (p.Glu198=) c.448-2460A= (n.448-2460A=) | |
1 | g.77926856A>C | CA340874506 | NEXN | c.828A>C (p.Glu276Asp) c.636A>C (p.Glu212Asp) c.527A>C c.786A>C (p.Glu262Asp) n.288A>C c.594A>C (p.Glu198Asp) c.448-2460A>C (n.448-2460A>C) | |
1 | g.77926856A>G | CA918740 | NEXN | c.828A>G (p.Glu276=) c.636A>G (p.Glu212=) c.527A>G c.786A>G (p.Glu262=) n.288A>G c.594A>G (p.Glu198=) c.448-2460A>G (n.448-2460A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.77926856A>T | CA340874512 | NEXN | c.828A>T (p.Glu276Asp) c.636A>T (p.Glu212Asp) c.527A>T c.786A>T (p.Glu262Asp) n.288A>T c.594A>T (p.Glu198Asp) c.448-2460A>T (n.448-2460A>T) | |
1 | g.77926857G>A | CA340874513 | NEXN | c.829G>A (p.Glu277Lys) c.637G>A (p.Glu213Lys) c.528G>A c.787G>A (p.Glu263Lys) n.289G>A c.595G>A (p.Glu199Lys) c.448-2459G>A (n.448-2459G>A) | |
1 | g.77926857G>C | CA340874514 | NEXN | c.829G>C (p.Glu277Gln) c.637G>C (p.Glu213Gln) c.528G>C c.787G>C (p.Glu263Gln) n.289G>C c.595G>C (p.Glu199Gln) c.448-2459G>C (n.448-2459G>C) | gnomAD v4 |
1 | g.77926857G>T | CA340874515 | NEXN | c.829G>T (p.Glu277Ter) c.637G>T (p.Glu213Ter) c.528G>T c.787G>T (p.Glu263Ter) n.289G>T c.595G>T (p.Glu199Ter) c.448-2459G>T (n.448-2459G>T) | |
1 | g.77926857_77926859del | CA2646304757 | NEXN | c.829_831del (p.Glu277del) c.637_639del (p.Glu213del) c.528_530del c.787_789del (p.Glu263del) n.289_291del c.595_597del (p.Glu199del) c.448-2459_448-2457del (n.448-2459_448-2457del) | gnomAD v4 |
1 | g.77926858A>C | CA340874517 | NEXN | c.830A>C (p.Glu277Ala) c.638A>C (p.Glu213Ala) c.529A>C c.788A>C (p.Glu263Ala) n.290A>C c.596A>C (p.Glu199Ala) c.448-2458A>C (n.448-2458A>C) | |
1 | g.77926858A>G | CA340874520 | NEXN | c.830A>G (p.Glu277Gly) c.638A>G (p.Glu213Gly) c.529A>G c.788A>G (p.Glu263Gly) n.290A>G c.596A>G (p.Glu199Gly) c.448-2458A>G (n.448-2458A>G) | |
1 | g.77926858A>T | CA340874527 | NEXN | c.830A>T (p.Glu277Val) c.638A>T (p.Glu213Val) c.529A>T c.788A>T (p.Glu263Val) n.290A>T c.596A>T (p.Glu199Val) c.448-2458A>T (n.448-2458A>T) | |
1 | g.77926859G>A | CA418709326 | NEXN | c.831G>A (p.Glu277=) c.639G>A (p.Glu213=) c.530G>A c.789G>A (p.Glu263=) n.291G>A c.597G>A (p.Glu199=) c.448-2457G>A (n.448-2457G>A) | |
1 | g.77926859G>C | CA340874531 | NEXN | c.831G>C (p.Glu277Asp) c.639G>C (p.Glu213Asp) c.530G>C c.789G>C (p.Glu263Asp) n.291G>C c.597G>C (p.Glu199Asp) c.448-2457G>C (n.448-2457G>C) | |
1 | g.77926859G>T | CA340874533 | NEXN | c.831G>T (p.Glu277Asp) c.639G>T (p.Glu213Asp) c.530G>T c.789G>T (p.Glu263Asp) n.291G>T c.597G>T (p.Glu199Asp) c.448-2457G>T (n.448-2457G>T) | |
1 | g.77926860A>C | CA340874535 | NEXN | c.832A>C (p.Lys278Gln) c.640A>C (p.Lys214Gln) c.531A>C c.790A>C (p.Lys264Gln) n.292A>C c.598A>C (p.Lys200Gln) c.448-2456A>C (n.448-2456A>C) | |
1 | g.77926860A>G | CA340874536 | NEXN | c.832A>G (p.Lys278Glu) c.640A>G (p.Lys214Glu) c.531A>G c.790A>G (p.Lys264Glu) n.292A>G c.598A>G (p.Lys200Glu) c.448-2456A>G (n.448-2456A>G) | |
1 | g.77926860A>T | CA340874534 | NEXN | c.832A>T (p.Lys278Ter) c.640A>T (p.Lys214Ter) c.531A>T c.790A>T (p.Lys264Ter) n.292A>T c.598A>T (p.Lys200Ter) c.448-2456A>T (n.448-2456A>T) | |
1 | g.77926861A>C | CA340874537 | NEXN | c.833A>C (p.Lys278Thr) c.641A>C (p.Lys214Thr) c.532A>C c.791A>C (p.Lys264Thr) n.293A>C c.599A>C (p.Lys200Thr) c.448-2455A>C (n.448-2455A>C) | |
1 | g.77926861A>G | CA340874538 | NEXN | c.833A>G (p.Lys278Arg) c.641A>G (p.Lys214Arg) c.532A>G c.791A>G (p.Lys264Arg) n.293A>G c.599A>G (p.Lys200Arg) c.448-2455A>G (n.448-2455A>G) | |
1 | g.77926861A>T | CA340874541 | NEXN | c.833A>T (p.Lys278Met) c.641A>T (p.Lys214Met) c.532A>T c.791A>T (p.Lys264Met) n.293A>T c.599A>T (p.Lys200Met) c.448-2455A>T (n.448-2455A>T) | |
1 | g.77926862G>A | CA418709327 | NEXN | c.834G>A (p.Lys278=) c.642G>A (p.Lys214=) c.533G>A c.792G>A (p.Lys264=) n.294G>A c.600G>A (p.Lys200=) c.448-2454G>A (n.448-2454G>A) | dbSNP |
1 | g.77926862G>C | CA24678849 | NEXN | c.834G>C (p.Lys278Asn) c.642G>C (p.Lys214Asn) c.533G>C c.792G>C (p.Lys264Asn) n.294G>C c.600G>C (p.Lys200Asn) c.448-2454G>C (n.448-2454G>C) | dbSNP gnomAD v4 |
1 | g.77926862G= | CA1177623837 | NEXN | c.834G= (p.Lys278=) c.642G= (p.Lys214=) c.533G= c.792G= (p.Lys264=) n.294G= c.600G= (p.Lys200=) c.448-2454G= (n.448-2454G=) | |
1 | g.77926862G>T | CA340874544 | NEXN | c.834G>T (p.Lys278Asn) c.642G>T (p.Lys214Asn) c.533G>T c.792G>T (p.Lys264Asn) n.294G>T c.600G>T (p.Lys200Asn) c.448-2454G>T (n.448-2454G>T) | |
1 | g.77926863C>A | CA918741 | NEXN | c.835C>A (p.Arg279Ser) c.643C>A (p.Arg215Ser) c.534C>A c.793C>A (p.Arg265Ser) n.295C>A c.601C>A (p.Arg201Ser) c.448-2453C>A (n.448-2453C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.77926863C= | CA1142103992 | NEXN | c.835C= (p.Arg279=) c.643C= (p.Arg215=) c.534C= c.793C= (p.Arg265=) n.295C= c.601C= (p.Arg201=) c.448-2453C= (n.448-2453C=) | |
1 | g.77926863C>G | CA340874548 | NEXN | c.835C>G (p.Arg279Gly) c.643C>G (p.Arg215Gly) c.534C>G c.793C>G (p.Arg265Gly) n.295C>G c.601C>G (p.Arg201Gly) c.448-2453C>G (n.448-2453C>G) | |
1 | g.77926863C>T | CA129605 | NEXN | c.835C>T (p.Arg279Cys) c.643C>T (p.Arg215Cys) c.534C>T c.793C>T (p.Arg265Cys) n.295C>T c.601C>T (p.Arg201Cys) c.448-2453C>T (n.448-2453C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.77926864G>A | CA918742 | NEXN | c.836G>A (p.Arg279His) c.644G>A (p.Arg215His) c.535G>A c.794G>A (p.Arg265His) n.296G>A c.602G>A (p.Arg201His) c.448-2452G>A (n.448-2452G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.77926864G>C | CA340874549 | NEXN | c.836G>C (p.Arg279Pro) c.644G>C (p.Arg215Pro) c.535G>C c.794G>C (p.Arg265Pro) n.296G>C c.602G>C (p.Arg201Pro) c.448-2452G>C (n.448-2452G>C) | gnomAD v4 |
1 | g.77926864G= | CA1177623838 | NEXN | c.836G= (p.Arg279=) c.644G= (p.Arg215=) c.535G= c.794G= (p.Arg265=) n.296G= c.602G= (p.Arg201=) c.448-2452G= (n.448-2452G=) | |
1 | g.77926864G>T | CA340874552 | NEXN | c.836G>T (p.Arg279Leu) c.644G>T (p.Arg215Leu) c.535G>T c.794G>T (p.Arg265Leu) n.296G>T c.602G>T (p.Arg201Leu) c.448-2452G>T (n.448-2452G>T) | |
1 | g.77926865T>A | CA418709328 | NEXN | c.837T>A (p.Arg279=) c.645T>A (p.Arg215=) c.536T>A c.795T>A (p.Arg265=) n.297T>A c.603T>A (p.Arg201=) c.448-2451T>A (n.448-2451T>A) | |
1 | g.77926865T>C | CA418709329 | NEXN | c.837T>C (p.Arg279=) c.645T>C (p.Arg215=) c.536T>C c.795T>C (p.Arg265=) n.297T>C c.603T>C (p.Arg201=) c.448-2451T>C (n.448-2451T>C) | |
1 | g.77926865T>G | CA418709330 | NEXN | c.837T>G (p.Arg279=) c.645T>G (p.Arg215=) c.536T>G c.795T>G (p.Arg265=) n.297T>G c.603T>G (p.Arg201=) c.448-2451T>G (n.448-2451T>G) | |
1 | g.77926866G>A | CA340874553 | NEXN | c.838G>A (p.Ala280Thr) c.646G>A (p.Ala216Thr) c.537G>A c.796G>A (p.Ala266Thr) n.298G>A c.604G>A (p.Ala202Thr) c.448-2450G>A (n.448-2450G>A) | dbSNP |
1 | g.77926866G>C | CA340874556 | NEXN | c.838G>C (p.Ala280Pro) c.646G>C (p.Ala216Pro) c.537G>C c.796G>C (p.Ala266Pro) n.298G>C c.604G>C (p.Ala202Pro) c.448-2450G>C (n.448-2450G>C) | |
1 | g.77926866G= | CA1177623839 | NEXN | c.838G= (p.Ala280=) c.646G= (p.Ala216=) c.537G= c.796G= (p.Ala266=) n.298G= c.604G= (p.Ala202=) c.448-2450G= (n.448-2450G=) | |
1 | g.77926866G>T | CA340874560 | NEXN | c.838G>T (p.Ala280Ser) c.646G>T (p.Ala216Ser) c.537G>T c.796G>T (p.Ala266Ser) n.298G>T c.604G>T (p.Ala202Ser) c.448-2450G>T (n.448-2450G>T) | |
1 | g.77926867C>A | CA340874582 | NEXN | c.839C>A (p.Ala280Asp) c.647C>A (p.Ala216Asp) c.538C>A c.797C>A (p.Ala266Asp) n.299C>A c.605C>A (p.Ala202Asp) c.448-2449C>A (n.448-2449C>A) | |
1 | g.77926867C= | CA1177623840 | NEXN | c.839C= (p.Ala280=) c.647C= (p.Ala216=) c.538C= c.797C= (p.Ala266=) n.299C= c.605C= (p.Ala202=) c.448-2449C= (n.448-2449C=) | |
1 | g.77926867C>G | CA918743 | NEXN | c.839C>G (p.Ala280Gly) c.647C>G (p.Ala216Gly) c.538C>G c.797C>G (p.Ala266Gly) n.299C>G c.605C>G (p.Ala202Gly) c.448-2449C>G (n.448-2449C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.77926867C>T | CA340874563 | NEXN | c.839C>T (p.Ala280Val) c.647C>T (p.Ala216Val) c.538C>T c.797C>T (p.Ala266Val) n.299C>T c.605C>T (p.Ala202Val) c.448-2449C>T (n.448-2449C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.77926868T>A | CA418709331 | NEXN | c.840T>A (p.Ala280=) c.648T>A (p.Ala216=) c.539T>A c.798T>A (p.Ala266=) n.300T>A c.606T>A (p.Ala202=) c.448-2448T>A (n.448-2448T>A) | |
1 | g.77926868T>C | CA418709333 | NEXN | c.840T>C (p.Ala280=) c.648T>C (p.Ala216=) c.539T>C c.798T>C (p.Ala266=) n.300T>C c.606T>C (p.Ala202=) c.448-2448T>C (n.448-2448T>C) | gnomAD v4 |
1 | g.77926868T>G | CA418709332 | NEXN | c.840T>G (p.Ala280=) c.648T>G (p.Ala216=) c.539T>G c.798T>G (p.Ala266=) n.300T>G c.606T>G (p.Ala202=) c.448-2448T>G (n.448-2448T>G) | |
1 | g.77926869T>A | CA340874591 | NEXN | c.841T>A (p.Phe281Ile) c.649T>A (p.Phe217Ile) c.540T>A c.799T>A (p.Phe267Ile) n.301T>A c.607T>A (p.Phe203Ile) c.448-2447T>A (n.448-2447T>A) | |
1 | g.77926869T>C | CA340874593 | NEXN | c.841T>C (p.Phe281Leu) c.649T>C (p.Phe217Leu) c.540T>C c.799T>C (p.Phe267Leu) n.301T>C c.607T>C (p.Phe203Leu) c.448-2447T>C (n.448-2447T>C) | |
1 | g.77926869T>G | CA340874595 | NEXN | c.841T>G (p.Phe281Val) c.649T>G (p.Phe217Val) c.540T>G c.799T>G (p.Phe267Val) n.301T>G c.607T>G (p.Phe203Val) c.448-2447T>G (n.448-2447T>G) | |
1 | g.77926870T>A | CA340874599 | NEXN | c.842T>A (p.Phe281Tyr) c.650T>A (p.Phe217Tyr) c.541T>A c.800T>A (p.Phe267Tyr) n.302T>A c.608T>A (p.Phe203Tyr) c.448-2446T>A (n.448-2446T>A) | |
1 | g.77926870T>C | CA340874608 | NEXN | c.842T>C (p.Phe281Ser) c.650T>C (p.Phe217Ser) c.541T>C c.800T>C (p.Phe267Ser) n.302T>C c.608T>C (p.Phe203Ser) c.448-2446T>C (n.448-2446T>C) | ClinVar dbSNP gnomAD v4 |
1 | g.77926870T>G | CA340874611 | NEXN | c.842T>G (p.Phe281Cys) c.650T>G (p.Phe217Cys) c.541T>G c.800T>G (p.Phe267Cys) n.302T>G c.608T>G (p.Phe203Cys) c.448-2446T>G (n.448-2446T>G) | |
1 | g.77926870T= | CA1177623841 | NEXN | c.842T= (p.Phe281=) c.650T= (p.Phe217=) c.541T= c.800T= (p.Phe267=) n.302T= c.608T= (p.Phe203=) c.448-2446T= (n.448-2446T=) | |
1 | g.77926871T>A | CA340874631 | NEXN | c.843T>A (p.Phe281Leu) c.651T>A (p.Phe217Leu) c.542T>A c.801T>A (p.Phe267Leu) n.303T>A c.609T>A (p.Phe203Leu) c.448-2445T>A (n.448-2445T>A) | |
1 | g.77926871T>C | CA418709334 | NEXN | c.843T>C (p.Phe281=) c.651T>C (p.Phe217=) c.542T>C c.801T>C (p.Phe267=) n.303T>C c.609T>C (p.Phe203=) c.448-2445T>C (n.448-2445T>C) | |
1 | g.77926871T>G | CA340874634 | NEXN | c.843T>G (p.Phe281Leu) c.651T>G (p.Phe217Leu) c.542T>G c.801T>G (p.Phe267Leu) n.303T>G c.609T>G (p.Phe203Leu) c.448-2445T>G (n.448-2445T>G) | |
1 | g.77926872G>A | CA340874637 | NEXN | c.844G>A (p.Glu282Lys) c.652G>A (p.Glu218Lys) c.543G>A c.802G>A (p.Glu268Lys) n.304G>A c.610G>A (p.Glu204Lys) c.448-2444G>A (n.448-2444G>A) | |
1 | g.77926872G>C | CA340874639 | NEXN | c.844G>C (p.Glu282Gln) c.652G>C (p.Glu218Gln) c.543G>C c.802G>C (p.Glu268Gln) n.304G>C c.610G>C (p.Glu204Gln) c.448-2444G>C (n.448-2444G>C) | |
1 | g.77926872G>T | CA340874640 | NEXN | c.844G>T (p.Glu282Ter) c.652G>T (p.Glu218Ter) c.543G>T c.802G>T (p.Glu268Ter) n.304G>T c.610G>T (p.Glu204Ter) c.448-2444G>T (n.448-2444G>T) | |
1 | g.77926873A>C | CA340874643 | NEXN | c.845A>C (p.Glu282Ala) c.653A>C (p.Glu218Ala) c.544A>C c.803A>C (p.Glu268Ala) n.305A>C c.611A>C (p.Glu204Ala) c.448-2443A>C (n.448-2443A>C) | |
1 | g.77926873A>G | CA340874646 | NEXN | c.845A>G (p.Glu282Gly) c.653A>G (p.Glu218Gly) c.544A>G c.803A>G (p.Glu268Gly) n.305A>G c.611A>G (p.Glu204Gly) c.448-2443A>G (n.448-2443A>G) | |
1 | g.77926873A>T | CA340874648 | NEXN | c.845A>T (p.Glu282Val) c.653A>T (p.Glu218Val) c.544A>T c.803A>T (p.Glu268Val) n.305A>T c.611A>T (p.Glu204Val) c.448-2443A>T (n.448-2443A>T) | |
1 | g.77926874A= | CA1177623842 | NEXN | c.846A= (p.Glu282=) c.654A= (p.Glu218=) c.545A= c.804A= (p.Glu268=) n.306A= c.612A= (p.Glu204=) c.448-2442A= (n.448-2442A=) | |
1 | g.77926874A>C | CA340874650 | NEXN | c.846A>C (p.Glu282Asp) c.654A>C (p.Glu218Asp) c.545A>C c.804A>C (p.Glu268Asp) n.306A>C c.612A>C (p.Glu204Asp) c.448-2442A>C (n.448-2442A>C) | |
1 | g.77926874A>G | CA418709335 | NEXN | c.846A>G (p.Glu282=) c.654A>G (p.Glu218=) c.545A>G c.804A>G (p.Glu268=) n.306A>G c.612A>G (p.Glu204=) c.448-2442A>G (n.448-2442A>G) | dbSNP gnomAD v2 |
1 | g.77926874A>T | CA340874652 | NEXN | c.846A>T (p.Glu282Asp) c.654A>T (p.Glu218Asp) c.545A>T c.804A>T (p.Glu268Asp) n.306A>T c.612A>T (p.Glu204Asp) c.448-2442A>T (n.448-2442A>T) | |
1 | g.77926875G>A | CA340874656 | NEXN | c.847G>A (p.Glu283Lys) c.655G>A (p.Glu219Lys) c.546G>A c.805G>A (p.Glu269Lys) n.307G>A c.613G>A (p.Glu205Lys) c.448-2441G>A (n.448-2441G>A) | |
1 | g.77926875G>C | CA340874658 | NEXN | c.847G>C (p.Glu283Gln) c.655G>C (p.Glu219Gln) c.546G>C c.805G>C (p.Glu269Gln) n.307G>C c.613G>C (p.Glu205Gln) c.448-2441G>C (n.448-2441G>C) | |
1 | g.77926875G>T | CA340874657 | NEXN | c.847G>T (p.Glu283Ter) c.655G>T (p.Glu219Ter) c.546G>T c.805G>T (p.Glu269Ter) n.307G>T c.613G>T (p.Glu205Ter) c.448-2441G>T (n.448-2441G>T) | |
1 | g.77926876A= | CA1144011265 | NEXN | c.848A= (p.Glu283=) c.656A= (p.Glu219=) c.547A= c.806A= (p.Glu269=) n.308A= c.614A= (p.Glu205=) c.448-2440A= (n.448-2440A=) | |
1 | g.77926876A>C | CA340874659 | NEXN | c.848A>C (p.Glu283Ala) c.656A>C (p.Glu219Ala) c.547A>C c.806A>C (p.Glu269Ala) n.308A>C c.614A>C (p.Glu205Ala) c.448-2440A>C (n.448-2440A>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.77926876A>G | CA340874660 | NEXN | c.848A>G (p.Glu283Gly) c.656A>G (p.Glu219Gly) c.547A>G c.806A>G (p.Glu269Gly) n.308A>G c.614A>G (p.Glu205Gly) c.448-2440A>G (n.448-2440A>G) | COSMIC COSMIC |
1 | g.77926876A>T | CA918744 | NEXN | c.848A>T (p.Glu283Val) c.656A>T (p.Glu219Val) c.547A>T c.806A>T (p.Glu269Val) n.308A>T c.614A>T (p.Glu205Val) c.448-2440A>T (n.448-2440A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.77926877A>C | CA340874662 | NEXN | c.849A>C (p.Glu283Asp) c.657A>C (p.Glu219Asp) c.548A>C c.807A>C (p.Glu269Asp) n.309A>C c.615A>C (p.Glu205Asp) c.448-2439A>C (n.448-2439A>C) | gnomAD v4 |
1 | g.77926877A>G | CA418709336 | NEXN | c.849A>G (p.Glu283=) c.657A>G (p.Glu219=) c.548A>G c.807A>G (p.Glu269=) n.309A>G c.615A>G (p.Glu205=) c.448-2439A>G (n.448-2439A>G) | |
1 | g.77926877A>T | CA340874663 | NEXN | c.849A>T (p.Glu283Asp) c.657A>T (p.Glu219Asp) c.548A>T c.807A>T (p.Glu269Asp) n.309A>T c.615A>T (p.Glu205Asp) c.448-2439A>T (n.448-2439A>T) | |
1 | g.77926878G>A | CA340874665 | NEXN | c.850G>A (p.Ala284Thr) c.658G>A (p.Ala220Thr) c.549G>A c.808G>A (p.Ala270Thr) n.310G>A c.616G>A (p.Ala206Thr) c.448-2438G>A (n.448-2438G>A) | |
1 | g.77926878G>C | CA340874667 | NEXN | c.850G>C (p.Ala284Pro) c.658G>C (p.Ala220Pro) c.549G>C c.808G>C (p.Ala270Pro) n.310G>C c.616G>C (p.Ala206Pro) c.448-2438G>C (n.448-2438G>C) | |
1 | g.77926878G>T | CA340874669 | NEXN | c.850G>T (p.Ala284Ser) c.658G>T (p.Ala220Ser) c.549G>T c.808G>T (p.Ala270Ser) n.310G>T c.616G>T (p.Ala206Ser) c.448-2438G>T (n.448-2438G>T) |