Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.71756817A>CCA357204857GCc.929T>G (p.Val310Gly)
n.813T>G
c.986T>G (p.Val329Gly)
gnomAD v4
4g.71756817A>GCA357204858GCc.929T>C (p.Val310Ala)
n.813T>C
c.986T>C (p.Val329Ala)
4g.71756817A>TCA357204856GCc.929T>A (p.Val310Glu)
n.813T>A
c.986T>A (p.Val329Glu)
COSMIC COSMIC
4g.71756818C>ACA357204860GCc.928G>T (p.Val310Leu)
n.812G>T
c.985G>T (p.Val329Leu)
4g.71756818C=CA1467373215GCc.928G= (p.Val310=)
n.812G=
c.985G= (p.Val329=)
4g.71756818C>GCA357204859GCc.928G>C (p.Val310Leu)
n.812G>C
c.985G>C (p.Val329Leu)
4g.71756818C>TCA357204861GCc.928G>A (p.Val310Met)
n.812G>A
c.985G>A (p.Val329Met)
dbSNP
4g.71756819A>CCA357204862GCc.927T>G (p.Phe309Leu)
n.811T>G
c.984T>G (p.Phe328Leu)
4g.71756819A>GCA439795810GCc.927T>C (p.Phe309=)
n.811T>C
c.984T>C (p.Phe328=)
4g.71756819A>TCA357204863GCc.927T>A (p.Phe309Leu)
n.811T>A
c.984T>A (p.Phe328Leu)
4g.71756820A=CA1467373216GCc.926T= (p.Phe309=)
n.810T=
c.983T= (p.Phe328=)
4g.71756820A>CCA99065834GCc.926T>G (p.Phe309Cys)
n.810T>G
c.983T>G (p.Phe328Cys)
dbSNP
4g.71756820A>GCA357204864GCc.926T>C (p.Phe309Ser)
n.810T>C
c.983T>C (p.Phe328Ser)
4g.71756820A>TCA357204865GCc.926T>A (p.Phe309Tyr)
n.810T>A
c.983T>A (p.Phe328Tyr)
4g.71756821A>CCA357204866GCc.925T>G (p.Phe309Val)
n.809T>G
c.982T>G (p.Phe328Val)
4g.71756821A>GCA357204867GCc.925T>C (p.Phe309Leu)
n.809T>C
c.982T>C (p.Phe328Leu)
4g.71756821A>TCA357204868GCc.925T>A (p.Phe309Ile)
n.809T>A
c.982T>A (p.Phe328Ile)
4g.71756822A=CA1467373217GCc.924T= (p.Val308=)
n.808T=
c.981T= (p.Val327=)
4g.71756822A>CCA439795811GCc.924T>G (p.Val308=)
n.808T>G
c.981T>G (p.Val327=)
4g.71756822A>GCA439795813GCc.924T>C (p.Val308=)
n.808T>C
c.981T>C (p.Val327=)
4g.71756822A>TCA439795812GCc.924T>A (p.Val308=)
n.808T>A
c.981T>A (p.Val327=)
dbSNP
4g.71756823A=CA1467373218GCc.923T= (p.Val308=)
n.807T=
c.980T= (p.Val327=)
4g.71756823A>CCA357204871GCc.923T>G (p.Val308Gly)
n.807T>G
c.980T>G (p.Val327Gly)
dbSNP
4g.71756823A>GCA357204870GCc.923T>C (p.Val308Ala)
n.807T>C
c.980T>C (p.Val327Ala)
4g.71756823A>TCA357204869GCc.923T>A (p.Val308Asp)
n.807T>A
c.980T>A (p.Val327Asp)
4g.71756824C>ACA357204872GCc.922G>T (p.Val308Phe)
n.806G>T
c.979G>T (p.Val327Phe)
dbSNP gnomAD v4
4g.71756824C=CA1467373219GCc.922G= (p.Val308=)
n.806G=
c.979G= (p.Val327=)
4g.71756824C>GCA357204873GCc.922G>C (p.Val308Leu)
n.806G>C
c.979G>C (p.Val327Leu)
4g.71756824C>TCA2955542GCc.922G>A (p.Val308Ile)
n.806G>A
c.979G>A (p.Val327Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.71756825G>ACA2955543GCc.921C>T (p.Asp307=)
n.805C>T
c.978C>T (p.Asp326=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.71756825G>CCA357204874GCc.921C>G (p.Asp307Glu)
n.805C>G
c.978C>G (p.Asp326Glu)
4g.71756825G=CA1467373220GCc.921C= (p.Asp307=)
n.805C=
c.978C= (p.Asp326=)
4g.71756825G>TCA357204875GCc.921C>A (p.Asp307Glu)
n.805C>A
c.978C>A (p.Asp326Glu)
4g.71756826T>ACA357204876GCc.920A>T (p.Asp307Val)
n.804A>T
c.977A>T (p.Asp326Val)
dbSNP gnomAD v2 gnomAD v4
4g.71756826T>CCA357204878GCc.920A>G (p.Asp307Gly)
n.804A>G
c.977A>G (p.Asp326Gly)
4g.71756826T>GCA357204877GCc.920A>C (p.Asp307Ala)
n.804A>C
c.977A>C (p.Asp326Ala)
4g.71756826T=CA1467373221GCc.920A= (p.Asp307=)
n.804A=
c.977A= (p.Asp326=)
4g.71756827C>ACA357204879GCc.919G>T (p.Asp307Tyr)
n.803G>T
c.976G>T (p.Asp326Tyr)
4g.71756827C=CA1467373222GCc.919G= (p.Asp307=)
n.803G=
c.976G= (p.Asp326=)
4g.71756827C>GCA357204880GCc.919G>C (p.Asp307His)
n.803G>C
c.976G>C (p.Asp326His)
4g.71756827C>TCA357204881GCc.919G>A (p.Asp307Asn)
n.803G>A
c.976G>A (p.Asp326Asn)
dbSNP gnomAD v4
4g.71756828C>ACA357204882GCc.918G>T (p.Met306Ile)
n.802G>T
c.975G>T (p.Met325Ile)
gnomAD v4
4g.71756828C>GCA357204883GCc.918G>C (p.Met306Ile)
n.802G>C
c.975G>C (p.Met325Ile)
gnomAD v4
4g.71756828C>TCA357204884GCc.918G>A (p.Met306Ile)
n.802G>A
c.975G>A (p.Met325Ile)
COSMIC COSMIC
4g.71756829A=CA1467373223GCc.917T= (p.Met306=)
n.801T=
c.974T= (p.Met325=)
4g.71756829A>CCA357204885GCc.917T>G (p.Met306Arg)
n.801T>G
c.974T>G (p.Met325Arg)
4g.71756829A>GCA357204886GCc.917T>C (p.Met306Thr)
n.801T>C
c.974T>C (p.Met325Thr)
dbSNP gnomAD v3 gnomAD v4
4g.71756829A>TCA357204887GCc.917T>A (p.Met306Lys)
n.801T>A
c.974T>A (p.Met325Lys)
4g.71756830T>ACA357204888GCc.916A>T (p.Met306Leu)
n.800A>T
c.973A>T (p.Met325Leu)
COSMIC COSMIC
4g.71756830T>CCA357204889GCc.916A>G (p.Met306Val)
n.800A>G
c.973A>G (p.Met325Val)
gnomAD v4
4g.71756830T>GCA357204890GCc.916A>C (p.Met306Leu)
n.800A>C
c.973A>C (p.Met325Leu)
4g.71756831G>ACA439795814GCc.915C>T (p.Ala305=)
n.799C>T
c.972C>T (p.Ala324=)
4g.71756831G>CCA439795815GCc.915C>G (p.Ala305=)
n.799C>G
c.972C>G (p.Ala324=)
4g.71756831G>TCA439795816GCc.915C>A (p.Ala305=)
n.799C>A
c.972C>A (p.Ala324=)
4g.71756832G>ACA2955544GCc.914C>T (p.Ala305Val)
n.798C>T
c.971C>T (p.Ala324Val)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.71756832G>CCA357204891GCc.914C>G (p.Ala305Gly)
n.798C>G
c.971C>G (p.Ala324Gly)
dbSNP gnomAD v4
4g.71756832G=CA1467373224GCc.914C= (p.Ala305=)
n.798C=
c.971C= (p.Ala324=)
4g.71756832G>TCA357204892GCc.914C>A (p.Ala305Asp)
n.798C>A
c.971C>A (p.Ala324Asp)
4g.71756833C>ACA357204893GCc.913G>T (p.Ala305Ser)
n.797G>T
c.970G>T (p.Ala324Ser)
4g.71756833C=CA1467373225GCc.913G= (p.Ala305=)
n.797G=
c.970G= (p.Ala324=)
4g.71756833C>GCA357204894GCc.913G>C (p.Ala305Pro)
n.797G>C
c.970G>C (p.Ala324Pro)
dbSNP
4g.71756833C>TCA357204895GCc.913G>A (p.Ala305Thr)
n.797G>A
c.970G>A (p.Ala324Thr)
4g.71756834T>ACA439795817GCc.912A>T (p.Thr304=)
n.796A>T
c.969A>T (p.Thr323=)
4g.71756834T>CCA439795818GCc.912A>G (p.Thr304=)
n.796A>G
c.969A>G (p.Thr323=)
4g.71756834T>GCA439795819GCc.912A>C (p.Thr304=)
n.796A>C
c.969A>C (p.Thr323=)
4g.71756834T=CA1467373226GCc.912A= (p.Thr304=)
n.796A=
c.969A= (p.Thr323=)
4g.71756835G>ACA2955545GCc.911C>T (p.Thr304Ile)
n.795C>T
c.968C>T (p.Thr323Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.71756835G>CCA357204896GCc.911C>G (p.Thr304Arg)
n.795C>G
c.968C>G (p.Thr323Arg)
dbSNP gnomAD v3 gnomAD v4
4g.71756835G=CA1467373227GCc.911C= (p.Thr304=)
n.795C=
c.968C= (p.Thr323=)
4g.71756835G>TCA357204897GCc.911C>A (p.Thr304Lys)
n.795C>A
c.968C>A (p.Thr323Lys)
4g.71756835dupCA99065854GCc.911dup (p.Ala305SerfsTer?)
n.795dup
c.968dup (p.Ala324SerfsTer?)
dbSNP
4g.71756836T>ACA357204898GCc.910A>T (p.Thr304Ser)
n.794A>T
c.967A>T (p.Thr323Ser)
dbSNP
4g.71756836T>CCA357204899GCc.910A>G (p.Thr304Ala)
n.794A>G
c.967A>G (p.Thr323Ala)
4g.71756836T>GCA357204900GCc.910A>C (p.Thr304Pro)
n.794A>C
c.967A>C (p.Thr323Pro)
gnomAD v4
4g.71756836T=CA1467373228GCc.910A= (p.Thr304=)
n.794A=
c.967A= (p.Thr323=)
4g.71756837T>ACA357204901GCc.909A>T (p.Lys303Asn)
n.793A>T
c.966A>T (p.Lys322Asn)
4g.71756837T>CCA439795821GCc.909A>G (p.Lys303=)
n.793A>G
c.966A>G (p.Lys322=)
4g.71756837T>GCA357204902GCc.909A>C (p.Lys303Asn)
n.793A>C
c.966A>C (p.Lys322Asn)
4g.71756838T>ACA357204905GCc.908A>T (p.Lys303Ile)
n.792A>T
c.965A>T (p.Lys322Ile)
4g.71756838T>CCA357204904GCc.908A>G (p.Lys303Arg)
n.792A>G
c.965A>G (p.Lys322Arg)
4g.71756838T>GCA357204903GCc.908A>C (p.Lys303Thr)
n.792A>C
c.965A>C (p.Lys322Thr)
4g.71756839T>ACA357204906GCc.907A>T (p.Lys303Ter)
n.791A>T
c.964A>T (p.Lys322Ter)
4g.71756839T>CCA357204907GCc.907A>G (p.Lys303Glu)
n.791A>G
c.964A>G (p.Lys322Glu)
4g.71756839T>GCA357204908GCc.907A>C (p.Lys303Gln)
n.791A>C
c.964A>C (p.Lys322Gln)
4g.71756840T>ACA357204909GCc.906A>T (p.Glu302Asp)
n.790A>T
c.963A>T (p.Glu321Asp)
4g.71756840T>CCA439795822GCc.906A>G (p.Glu302=)
n.790A>G
c.963A>G (p.Glu321=)
dbSNP
4g.71756840T>GCA357204910GCc.906A>C (p.Glu302Asp)
n.790A>C
c.963A>C (p.Glu321Asp)
4g.71756840T=CA1467373229GCc.906A= (p.Glu302=)
n.790A=
c.963A= (p.Glu321=)
4g.71756841T>ACA357204911GCc.905A>T (p.Glu302Val)
n.789A>T
c.962A>T (p.Glu321Val)
4g.71756841T>CCA357204912GCc.905A>G (p.Glu302Gly)
n.789A>G
c.962A>G (p.Glu321Gly)
4g.71756841T>GCA357204913GCc.905A>C (p.Glu302Ala)
n.789A>C
c.962A>C (p.Glu321Ala)
4g.71756842C>ACA357204914GCc.904G>T (p.Glu302Ter)
n.788G>T
c.961G>T (p.Glu321Ter)
4g.71756842C=CA1467373230GCc.904G= (p.Glu302=)
n.788G=
c.961G= (p.Glu321=)
4g.71756842C>GCA357204915GCc.904G>C (p.Glu302Gln)
n.788G>C
c.961G>C (p.Glu321Gln)
4g.71756842C>TCA357204916GCc.904G>A (p.Glu302Lys)
n.788G>A
c.961G>A (p.Glu321Lys)
dbSNP gnomAD v4
4g.71756843T>ACA357204917GCc.903A>T (p.Gln301His)
n.787A>T
c.960A>T (p.Gln320His)
4g.71756843T>CCA439795823GCc.903A>G (p.Gln301=)
n.787A>G
c.960A>G (p.Gln320=)
gnomAD v4
4g.71756843T>GCA357204918GCc.903A>C (p.Gln301His)
n.787A>C
c.960A>C (p.Gln320His)
4g.71756844T>ACA357204919GCc.902A>T (p.Gln301Leu)
n.786A>T
c.959A>T (p.Gln320Leu)
4g.71756844T>CCA357204920GCc.902A>G (p.Gln301Arg)
n.786A>G
c.959A>G (p.Gln320Arg)
4g.71756844T>GCA2955546GCc.902A>C (p.Gln301Pro)
n.786A>C
c.959A>C (p.Gln320Pro)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.71756844T=CA1467373231GCc.902A= (p.Gln301=)
n.786A=
c.959A= (p.Gln320=)
4g.71756845G>ACA2955547GCc.901C>T (p.Gln301Ter)
n.785C>T
c.958C>T (p.Gln320Ter)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.71756845G>CCA357204921GCc.901C>G (p.Gln301Glu)
n.785C>G
c.958C>G (p.Gln320Glu)
4g.71756845G=CA1467373232GCc.901C= (p.Gln301=)
n.785C=
c.958C= (p.Gln320=)
4g.71756845G>TCA99065862GCc.901C>A (p.Gln301Lys)
n.785C>A
c.958C>A (p.Gln320Lys)
dbSNP gnomAD v4
4g.71756846A>CCA357204922GCc.900T>G (p.Cys300Trp)
n.784T>G
c.957T>G (p.Cys319Trp)
4g.71756846A>GCA439795824GCc.900T>C (p.Cys300=)
n.784T>C
c.957T>C (p.Cys319=)
4g.71756846A>TCA357204923GCc.900T>A (p.Cys300Ter)
n.784T>A
c.957T>A (p.Cys319Ter)
4g.71756847C>ACA357204924GCc.899G>T (p.Cys300Phe)
n.783G>T
c.956G>T (p.Cys319Phe)
4g.71756847C=CA1467373233GCc.899G= (p.Cys300=)
n.783G=
c.956G= (p.Cys319=)
4g.71756847C>GCA357204925GCc.899G>C (p.Cys300Ser)
n.783G>C
c.956G>C (p.Cys319Ser)
4g.71756847C>TCA357204926GCc.899G>A (p.Cys300Tyr)
n.783G>A
c.956G>A (p.Cys319Tyr)
dbSNP gnomAD v4
4g.71756848A=CA1467373234GCc.898T= (p.Cys300=)
n.782T=
c.955T= (p.Cys319=)
4g.71756848A>CCA357204927GCc.898T>G (p.Cys300Gly)
n.782T>G
c.955T>G (p.Cys319Gly)
4g.71756848A>GCA2955548GCc.898T>C (p.Cys300Arg)
n.782T>C
c.955T>C (p.Cys319Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.71756848A>TCA357204928GCc.898T>A (p.Cys300Ser)
n.782T>A
c.955T>A (p.Cys319Ser)
4g.71756849A=CA1467373235GCc.897T= (p.Cys299=)
n.781T=
c.954T= (p.Cys318=)
4g.71756849A>CCA357204929GCc.897T>G (p.Cys299Trp)
n.781T>G
c.954T>G (p.Cys318Trp)
4g.71756849A>GCA2955549GCc.897T>C (p.Cys299=)
n.781T>C
c.954T>C (p.Cys318=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.71756849A>TCA357204930GCc.897T>A (p.Cys299Ter)
n.781T>A
c.954T>A (p.Cys318Ter)
4g.71756850C>ACA357204933GCc.896G>T (p.Cys299Phe)
n.780G>T
c.953G>T (p.Cys318Phe)
4g.71756850C>GCA357204931GCc.896G>C (p.Cys299Ser)
n.780G>C
c.953G>C (p.Cys318Ser)
4g.71756850C>TCA357204932GCc.896G>A (p.Cys299Tyr)
n.780G>A
c.953G>A (p.Cys318Tyr)
gnomAD v4
4g.71756851A=CA1467373236GCc.895T= (p.Cys299=)
n.779T=
c.952T= (p.Cys318=)
4g.71756851A>CCA357204934GCc.895T>G (p.Cys299Gly)
n.779T>G
c.952T>G (p.Cys318Gly)
4g.71756851A>GCA357204935GCc.895T>C (p.Cys299Arg)
n.779T>C
c.952T>C (p.Cys318Arg)
dbSNP gnomAD v3 gnomAD v4
4g.71756851A>TCA357204936GCc.895T>A (p.Cys299Ser)
n.779T>A
c.952T>A (p.Cys318Ser)
4g.71756852G>ACA439795825GCc.894C>T (p.Asp298=)
n.778C>T
c.951C>T (p.Asp317=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.71756852G>CCA99065873GCc.894C>G (p.Asp298Glu)
n.778C>G
c.951C>G (p.Asp317Glu)
dbSNP
4g.71756852G=CA1467373237GCc.894C= (p.Asp298=)
n.778C=
c.951C= (p.Asp317=)
4g.71756852G>TCA357204937GCc.894C>A (p.Asp298Glu)
n.778C>A
c.951C>A (p.Asp317Glu)
4g.71756853T>ACA357204938GCc.893A>T (p.Asp298Val)
n.777A>T
c.950A>T (p.Asp317Val)
4g.71756853T>CCA357204939GCc.893A>G (p.Asp298Gly)
n.777A>G
c.950A>G (p.Asp317Gly)
dbSNP
4g.71756853T>GCA357204940GCc.893A>C (p.Asp298Ala)
n.777A>C
c.950A>C (p.Asp317Ala)
4g.71756854C>ACA357204941GCc.892G>T (p.Asp298Tyr)
n.776G>T
c.949G>T (p.Asp317Tyr)
4g.71756854C>GCA357204942GCc.892G>C (p.Asp298His)
n.776G>C
c.949G>C (p.Asp317His)
gnomAD v4
4g.71756854C>TCA357204943GCc.892G>A (p.Asp298Asn)
n.776G>A
c.949G>A (p.Asp317Asn)
gnomAD v4
4g.71756855T>ACA357204945GCc.891A>T (p.Glu297Asp)
n.775A>T
c.948A>T (p.Glu316Asp)
4g.71756855T>CCA439795826GCc.891A>G (p.Glu297=)
n.775A>G
c.948A>G (p.Glu316=)
dbSNP
4g.71756855T>GCA357204944GCc.891A>C (p.Glu297Asp)
n.775A>C
c.948A>C (p.Glu316Asp)
4g.71756855T=CA1467373238GCc.891A= (p.Glu297=)
n.775A=
c.948A= (p.Glu316=)
4g.71756855_71756856delCA2524549929GCc.890_891del (p.Glu297GlyfsTer?)
n.774_775del
c.947_948del (p.Glu316GlyfsTer?)
4g.71756856T>ACA357204946GCc.890A>T (p.Glu297Val)
n.774A>T
c.947A>T (p.Glu316Val)
4g.71756856T>CCA357204947GCc.890A>G (p.Glu297Gly)
n.774A>G
c.947A>G (p.Glu316Gly)
4g.71756856T>GCA357204948GCc.890A>C (p.Glu297Ala)
n.774A>C
c.947A>C (p.Glu316Ala)
4g.71756857C>ACA357204949GCc.889G>T (p.Glu297Ter)
n.773G>T
c.946G>T (p.Glu316Ter)
4g.71756857C>GCA357204950GCc.889G>C (p.Glu297Gln)
n.773G>C
c.946G>C (p.Glu316Gln)
dbSNP
4g.71756857C>TCA357204951GCc.889G>A (p.Glu297Lys)
n.773G>A
c.946G>A (p.Glu316Lys)
4g.71756857_71756858insGTCA2506207256GCc.888_889insAC (p.Glu297ThrfsTer?)
n.772_773insAC
c.945_946insAC (p.Glu316ThrfsTer?)
4g.71756858A>CCA357204952GCc.888T>G (p.Phe296Leu)
n.772T>G
c.945T>G (p.Phe315Leu)
4g.71756858A>GCA439795827GCc.888T>C (p.Phe296=)
n.772T>C
c.945T>C (p.Phe315=)
4g.71756858A>TCA357204953GCc.888T>A (p.Phe296Leu)
n.772T>A
c.945T>A (p.Phe315Leu)
4g.71756859A=CA1467373239GCc.887T= (p.Phe296=)
n.771T=
c.944T= (p.Phe315=)
4g.71756859A>CCA357204954GCc.887T>G (p.Phe296Cys)
n.771T>G
c.944T>G (p.Phe315Cys)
gnomAD v4
4g.71756859A>GCA357204955GCc.887T>C (p.Phe296Ser)
n.771T>C
c.944T>C (p.Phe315Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.71756859A>TCA357204956GCc.887T>A (p.Phe296Tyr)
n.771T>A
c.944T>A (p.Phe315Tyr)
4g.71756860A=CA1467373240GCc.886T= (p.Phe296=)
n.770T=
c.943T= (p.Phe315=)
4g.71756860A>CCA357204957GCc.886T>G (p.Phe296Val)
n.770T>G
c.943T>G (p.Phe315Val)
4g.71756860A>GCA357204958GCc.886T>C (p.Phe296Leu)
n.770T>C
c.943T>C (p.Phe315Leu)
4g.71756860A>TCA99065874GCc.886T>A (p.Phe296Ile)
n.770T>A
c.943T>A (p.Phe315Ile)
dbSNP gnomAD v2 gnomAD v4
4g.71756861C>ACA357204959GCc.885G>T (p.Lys295Asn)
n.769G>T
c.942G>T (p.Lys314Asn)
4g.71756861C>GCA357204960GCc.885G>C (p.Lys295Asn)
n.769G>C
c.942G>C (p.Lys314Asn)
4g.71756861C>TCA439795828GCc.885G>A (p.Lys295=)
n.769G>A
c.942G>A (p.Lys314=)
4g.71756862T>ACA357204961GCc.884A>T (p.Lys295Met)
n.768A>T
c.941A>T (p.Lys314Met)
4g.71756862T>CCA357204962GCc.884A>G (p.Lys295Arg)
n.768A>G
c.941A>G (p.Lys314Arg)
4g.71756862T>GCA357204963GCc.884A>C (p.Lys295Thr)
n.768A>C
c.941A>C (p.Lys314Thr)
4g.71756863T>ACA357204964GCc.883A>T (p.Lys295Ter)
n.767A>T
c.940A>T (p.Lys314Ter)
4g.71756863T>CCA357204965GCc.883A>G (p.Lys295Glu)
n.767A>G
c.940A>G (p.Lys314Glu)
4g.71756863T>GCA357204966GCc.883A>C (p.Lys295Gln)
n.767A>C
c.940A>C (p.Lys314Gln)
4g.71756864A=CA1467373241GCc.882T= (p.Ser294=)
n.766T=
c.939T= (p.Ser313=)
4g.71756864A>CCA439795829GCc.882T>G (p.Ser294=)
n.766T>G
c.939T>G (p.Ser313=)
4g.71756864A>GCA2955550GCc.882T>C (p.Ser294=)
n.766T>C
c.939T>C (p.Ser313=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.71756864A>TCA439795830GCc.882T>A (p.Ser294=)
n.766T>A
c.939T>A (p.Ser313=)
4g.71756865G>ACA2955551GCc.881C>T (p.Ser294Phe)
n.765C>T
c.938C>T (p.Ser313Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.71756865G>CCA357204967GCc.881C>G (p.Ser294Cys)
n.765C>G
c.938C>G (p.Ser313Cys)
4g.71756865G=CA1467373242GCc.881C= (p.Ser294=)
n.765C=
c.938C= (p.Ser313=)
4g.71756865G>TCA357204968GCc.881C>A (p.Ser294Tyr)
n.765C>A
c.938C>A (p.Ser313Tyr)
dbSNP gnomAD v2 gnomAD v4
4g.71756866A>CCA357204969GCc.880T>G (p.Ser294Ala)
n.764T>G
c.937T>G (p.Ser313Ala)
4g.71756866A>GCA357204970GCc.880T>C (p.Ser294Pro)
n.764T>C
c.937T>C (p.Ser313Pro)
4g.71756866A>TCA357204971GCc.880T>A (p.Ser294Thr)
n.764T>A
c.937T>A (p.Ser313Thr)
4g.71756867A>CCA357204972GCc.879T>G (p.Asn293Lys)
n.763T>G
c.936T>G (p.Asn312Lys)
4g.71756867A>GCA439795831GCc.879T>C (p.Asn293=)
n.763T>C
c.936T>C (p.Asn312=)
gnomAD v4
4g.71756867A>TCA357204973GCc.879T>A (p.Asn293Lys)
n.763T>A
c.936T>A (p.Asn312Lys)
4g.71756868T>ACA357204974GCc.878A>T (p.Asn293Ile)
n.762A>T
c.935A>T (p.Asn312Ile)
4g.71756868T>CCA357204976GCc.878A>G (p.Asn293Ser)
n.762A>G
c.935A>G (p.Asn312Ser)
4g.71756868T>GCA357204975GCc.878A>C (p.Asn293Thr)
n.762A>C
c.935A>C (p.Asn312Thr)
4g.71756869T>ACA357204977GCc.877A>T (p.Asn293Tyr)
n.761A>T
c.934A>T (p.Asn312Tyr)
4g.71756869T>CCA357204979GCc.877A>G (p.Asn293Asp)
n.761A>G
c.934A>G (p.Asn312Asp)
dbSNP gnomAD v4
4g.71756869T>GCA357204978GCc.877A>C (p.Asn293His)
n.761A>C
c.934A>C (p.Asn312His)
4g.71756869T=CA1467373243GCc.877A= (p.Asn293=)
n.761A=
c.934A= (p.Asn312=)
4g.71756870C>ACA357204980GCc.876G>T (p.Lys292Asn)
n.760G>T
c.933G>T (p.Lys311Asn)
dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
4g.71756870C=CA1467373244GCc.876G= (p.Lys292=)
n.760G=
c.933G= (p.Lys311=)
4g.71756870C>GCA357204981GCc.876G>C (p.Lys292Asn)
n.760G>C
c.933G>C (p.Lys311Asn)
4g.71756870C>TCA439795832GCc.876G>A (p.Lys292=)
n.760G>A
c.933G>A (p.Lys311=)
4g.71756871T>ACA357204982GCc.875A>T (p.Lys292Met)
n.759A>T
c.932A>T (p.Lys311Met)
4g.71756871T>CCA357204983GCc.875A>G (p.Lys292Arg)
n.759A>G
c.932A>G (p.Lys311Arg)
4g.71756871T>GCA357204984GCc.875A>C (p.Lys292Thr)
n.759A>C
c.932A>C (p.Lys311Thr)
4g.71756872T>ACA357204985GCc.874A>T (p.Lys292Ter)
n.758A>T
c.931A>T (p.Lys311Ter)
4g.71756872T>CCA357204986GCc.874A>G (p.Lys292Glu)
n.758A>G
c.931A>G (p.Lys311Glu)
4g.71756872T>GCA357204987GCc.874A>C (p.Lys292Gln)
n.758A>C
c.931A>C (p.Lys311Gln)
4g.71756873T>ACA439795835GCc.873A>T (p.Thr291=)
n.757A>T
c.930A>T (p.Thr310=)
4g.71756873T>CCA439795833GCc.873A>G (p.Thr291=)
n.757A>G
c.930A>G (p.Thr310=)
4g.71756873T>GCA439795834GCc.873A>C (p.Thr291=)
n.757A>C
c.930A>C (p.Thr310=)
4g.71756874G>ACA357204988GCc.872C>T (p.Thr291Ile)
n.756C>T
c.929C>T (p.Thr310Ile)
4g.71756874G>CCA357204989GCc.872C>G (p.Thr291Arg)
n.756C>G
c.929C>G (p.Thr310Arg)
4g.71756874G>TCA357204990GCc.872C>A (p.Thr291Lys)
n.756C>A
c.929C>A (p.Thr310Lys)
4g.71756875T>ACA357204993GCc.871A>T (p.Thr291Ser)
n.755A>T
c.928A>T (p.Thr310Ser)
4g.71756875T>CCA357204991GCc.871A>G (p.Thr291Ala)
n.755A>G
c.928A>G (p.Thr310Ala)
COSMIC COSMIC
4g.71756875T>GCA357204992GCc.871A>C (p.Thr291Pro)
n.755A>C
c.928A>C (p.Thr310Pro)
4g.71756876G>ACA439795836GCc.870C>T (p.Ser290=)
n.754C>T
c.927C>T (p.Ser309=)
dbSNP COSMIC COSMIC
4g.71756876G>CCA439795837GCc.870C>G (p.Ser290=)
n.754C>G
c.927C>G (p.Ser309=)
4g.71756876G>TCA439795838GCc.870C>A (p.Ser290=)
n.754C>A
c.927C>A (p.Ser309=)
4g.71756877delCA2670941963GCc.870del (p.Thr291GlnfsTer?)
n.754del
c.927del (p.Thr310GlnfsTer?)
gnomAD v4
4g.71756877G>ACA357204994GCc.869C>T (p.Ser290Phe)
n.753C>T
c.926C>T (p.Ser309Phe)
gnomAD v4
4g.71756877G>CCA357204995GCc.869C>G (p.Ser290Cys)
n.753C>G
c.926C>G (p.Ser309Cys)
4g.71756877G=CA1467373245GCc.869C= (p.Ser290=)
n.753C=
c.926C= (p.Ser309=)
4g.71756877G>TCA99065880GCc.869C>A (p.Ser290Tyr)
n.753C>A
c.926C>A (p.Ser309Tyr)
dbSNP
4g.71756878A>CCA357204996GCc.868T>G (p.Ser290Ala)
n.752T>G
c.925T>G (p.Ser309Ala)
4g.71756878A>GCA357204997GCc.868T>C (p.Ser290Pro)
n.752T>C
c.925T>C (p.Ser309Pro)
4g.71756878A>TCA357204998GCc.868T>A (p.Ser290Thr)
n.752T>A
c.925T>A (p.Ser309Thr)
4g.71756879T>ACA357204999GCc.867A>T (p.Leu289Phe)
n.751A>T
c.924A>T (p.Leu308Phe)
4g.71756879T>CCA439795842GCc.867A>G (p.Leu289=)
n.751A>G
c.924A>G (p.Leu308=)
dbSNP gnomAD v2 gnomAD v4
4g.71756879T>GCA357205000GCc.867A>C (p.Leu289Phe)
n.751A>C
c.924A>C (p.Leu308Phe)
4g.71756879T=CA1467373246GCc.867A= (p.Leu289=)
n.751A=
c.924A= (p.Leu308=)
4g.71756880A=CA1467373247GCc.866T= (p.Leu289=)
n.750T=
c.923T= (p.Leu308=)
4g.71756880A>CCA357205001GCc.866T>G (p.Leu289Ter)
n.750T>G
c.923T>G (p.Leu308Ter)
4g.71756880A>GCA2955552GCc.866T>C (p.Leu289Ser)
n.750T>C
c.923T>C (p.Leu308Ser)
dbSNP ExAC gnomAD v2
4g.71756880A>TCA357205002GCc.866T>A (p.Leu289Ter)
n.750T>A
c.923T>A (p.Leu308Ter)
4g.71756881A>CCA357205004GCc.865T>G (p.Leu289Val)
n.749T>G
c.922T>G (p.Leu308Val)
4g.71756881A>GCA439795845GCc.865T>C (p.Leu289=)
n.749T>C
c.922T>C (p.Leu308=)
gnomAD v4
4g.71756881A>TCA357205003GCc.865T>A (p.Leu289Ile)
n.749T>A
c.922T>A (p.Leu308Ile)
4g.71756882A=CA1467373248GCc.864T= (p.Asn288=)
n.748T=
c.921T= (p.Asn307=)
4g.71756882A>CCA357205005GCc.864T>G (p.Asn288Lys)
n.748T>G
c.921T>G (p.Asn307Lys)
4g.71756882A>GCA439795846GCc.864T>C (p.Asn288=)
n.748T>C
c.921T>C (p.Asn307=)
4g.71756882A>TCA99065892GCc.864T>A (p.Asn288Lys)
n.748T>A
c.921T>A (p.Asn307Lys)
dbSNP gnomAD v4
4g.71756883T>ACA357205006GCc.863A>T (p.Asn288Ile)
n.747A>T
c.920A>T (p.Asn307Ile)
4g.71756883T>CCA357205007GCc.863A>G (p.Asn288Ser)
n.747A>G
c.920A>G (p.Asn307Ser)
4g.71756883T>GCA357205008GCc.863A>C (p.Asn288Thr)
n.747A>C
c.920A>C (p.Asn307Thr)
4g.71756884T>ACA357205010GCc.862A>T (p.Asn288Tyr)
n.746A>T
c.919A>T (p.Asn307Tyr)
4g.71756884T>CCA2955553GCc.862A>G (p.Asn288Asp)
n.746A>G
c.919A>G (p.Asn307Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.71756884T>GCA357205009GCc.862A>C (p.Asn288His)
n.746A>C
c.919A>C (p.Asn307His)
4g.71756884T=CA1467373249GCc.862A= (p.Asn288=)
n.746A=
c.919A= (p.Asn307=)
4g.71756885G>ACA2955554GCc.861C>T (p.Asp287=)
n.745C>T
c.918C>T (p.Asp306=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.71756885G>CCA357205011GCc.861C>G (p.Asp287Glu)
n.745C>G
c.918C>G (p.Asp306Glu)
4g.71756885G=CA1467373250GCc.861C= (p.Asp287=)
n.745C=
c.918C= (p.Asp306=)
4g.71756885G>TCA357205012GCc.861C>A (p.Asp287Glu)
n.745C>A
c.918C>A (p.Asp306Glu)
dbSNP gnomAD v3 gnomAD v4
4g.71756886T>ACA357205013GCc.860A>T (p.Asp287Val)
n.744A>T
c.917A>T (p.Asp306Val)
gnomAD v4 COSMIC
4g.71756886T>CCA357205014GCc.860A>G (p.Asp287Gly)
n.744A>G
c.917A>G (p.Asp306Gly)
4g.71756886T>GCA357205015GCc.860A>C (p.Asp287Ala)
n.744A>C
c.917A>C (p.Asp306Ala)
4g.71756887C>ACA357205016GCc.859G>T (p.Asp287Tyr)
n.743G>T
c.916G>T (p.Asp306Tyr)
4g.71756887C>GCA357205018GCc.859G>C (p.Asp287His)
n.743G>C
c.916G>C (p.Asp306His)
4g.71756887C>TCA357205017GCc.859G>A (p.Asp287Asn)
n.743G>A
c.916G>A (p.Asp306Asn)
4g.71756888A=CA1467373251GCc.858T= (p.Cys286=)
n.742T=
c.915T= (p.Cys305=)
4g.71756888A>CCA357205019GCc.858T>G (p.Cys286Trp)
n.742T>G
c.915T>G (p.Cys305Trp)
4g.71756888A>GCA439795851GCc.858T>C (p.Cys286=)
n.742T>C
c.915T>C (p.Cys305=)
dbSNP
4g.71756888A>TCA357205020GCc.858T>A (p.Cys286Ter)
n.742T>A
c.915T>A (p.Cys305Ter)
gnomAD v4
4g.71756889C>ACA357205021GCc.857G>T (p.Cys286Phe)
n.741G>T
c.914G>T (p.Cys305Phe)
4g.71756889C=CA1467373252GCc.857G= (p.Cys286=)
n.741G=
c.914G= (p.Cys305=)
4g.71756889C>GCA357205022GCc.857G>C (p.Cys286Ser)
n.741G>C
c.914G>C (p.Cys305Ser)
4g.71756889C>TCA357205023GCc.857G>A (p.Cys286Tyr)
n.741G>A
c.914G>A (p.Cys305Tyr)
dbSNP gnomAD v2 gnomAD v4
4g.71756889_71756891delinsCAGCA1467373253GCc.855_857delinsCTG (p.Leu285=)
n.739_741delinsCTG
c.912_914delinsCTG (p.Leu304=)
4g.71756890A>CCA357205024GCc.856T>G (p.Cys286Gly)
n.740T>G
c.913T>G (p.Cys305Gly)
gnomAD v3 gnomAD v4
4g.71756890A>GCA357205025GCc.856T>C (p.Cys286Arg)
n.740T>C
c.913T>C (p.Cys305Arg)
4g.71756890A>TCA357205026GCc.856T>A (p.Cys286Ser)
n.740T>A
c.913T>A (p.Cys305Ser)
4g.71756892_71756893delCA1467373254GCc.855_856del (p.Cys286Ter)
n.739_740del
c.912_913del (p.Cys305Ter)
dbSNP gnomAD v4
4g.71756891G>ACA439795853GCc.855C>T (p.Leu285=)
n.739C>T
c.912C>T (p.Leu304=)
dbSNP gnomAD v3 gnomAD v4
4g.71756891G>CCA439795854GCc.855C>G (p.Leu285=)
n.739C>G
c.912C>G (p.Leu304=)
4g.71756891G=CA1467373255GCc.855C= (p.Leu285=)
n.739C=
c.912C= (p.Leu304=)
4g.71756891G>TCA439795855GCc.855C>A (p.Leu285=)
n.739C>A
c.912C>A (p.Leu304=)
4g.71756892A=CA1467373256GCc.854T= (p.Leu285=)
n.738T=
c.911T= (p.Leu304=)
4g.71756892A>CCA357205027GCc.854T>G (p.Leu285Arg)
n.738T>G
c.911T>G (p.Leu304Arg)
4g.71756892A>GCA357205028GCc.854T>C (p.Leu285Pro)
n.738T>C
c.911T>C (p.Leu304Pro)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.71756892A>TCA357205029GCc.854T>A (p.Leu285His)
n.738T>A
c.911T>A (p.Leu304His)
COSMIC COSMIC
4g.71756893G>ACA357205032GCc.853C>T (p.Leu285Phe)
n.737C>T
c.910C>T (p.Leu304Phe)
dbSNP gnomAD v2 gnomAD v4
4g.71756893G>CCA357205031GCc.853C>G (p.Leu285Val)
n.737C>G
c.910C>G (p.Leu304Val)
4g.71756893G=CA1467373257GCc.853C= (p.Leu285=)
n.737C=
c.910C= (p.Leu304=)
4g.71756893G>TCA357205030GCc.853C>A (p.Leu285Ile)
n.737C>A
c.910C>A (p.Leu304Ile)
gnomAD v4
4g.71756894T>ACA357205033GCc.852A>T (p.Lys284Asn)
n.736A>T
c.909A>T (p.Lys303Asn)
4g.71756894T>CCA2955555GCc.852A>G (p.Lys284=)
n.736A>G
c.909A>G (p.Lys303=)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.71756894T>GCA357205034GCc.852A>C (p.Lys284Asn)
n.736A>C
c.909A>C (p.Lys303Asn)
gnomAD v4
4g.71756894T=CA1467373258GCc.852A= (p.Lys284=)
n.736A=
c.909A= (p.Lys303=)
4g.71756895T>ACA357205035GCc.851A>T (p.Lys284Ile)
n.735A>T
c.908A>T (p.Lys303Ile)
4g.71756895T>CCA357205036GCc.851A>G (p.Lys284Arg)
n.735A>G
c.908A>G (p.Lys303Arg)
4g.71756895T>GCA357205037GCc.851A>C (p.Lys284Thr)
n.735A>C
c.908A>C (p.Lys303Thr)
4g.71756896T>ACA357205038GCc.850A>T (p.Lys284Ter)
n.734A>T
c.907A>T (p.Lys303Ter)
4g.71756896T>CCA357205039GCc.850A>G (p.Lys284Glu)
n.734A>G
c.907A>G (p.Lys303Glu)
4g.71756896T>GCA357205040GCc.850A>C (p.Lys284Gln)
n.734A>C
c.907A>C (p.Lys303Gln)
4g.71756897T>ACA439795860GCc.849A>T (p.Val283=)
n.733A>T
c.906A>T (p.Val302=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.71756897T>CCA439795861GCc.849A>G (p.Val283=)
n.733A>G
c.906A>G (p.Val302=)
4g.71756897T>GCA439795862GCc.849A>C (p.Val283=)
n.733A>C
c.906A>C (p.Val302=)
4g.71756897T=CA1467373259GCc.849A= (p.Val283=)
n.733A=
c.906A= (p.Val302=)
4g.71756898A=CA1467373260GCc.848T= (p.Val283=)
n.732T=
c.905T= (p.Val302=)
4g.71756898A>CCA357205041GCc.848T>G (p.Val283Gly)
n.732T>G
c.905T>G (p.Val302Gly)
4g.71756898A>GCA357205042GCc.848T>C (p.Val283Ala)
n.732T>C
c.905T>C (p.Val302Ala)
dbSNP gnomAD v4
4g.71756898A>TCA357205043GCc.848T>A (p.Val283Glu)
n.732T>A
c.905T>A (p.Val302Glu)
4g.71756899C>ACA357205044GCc.847G>T (p.Val283Leu)
n.731G>T
c.904G>T (p.Val302Leu)
4g.71756899C=CA1467373261GCc.847G= (p.Val283=)
n.731G=
c.904G= (p.Val302=)
4g.71756899C>GCA357205045GCc.847G>C (p.Val283Leu)
n.731G>C
c.904G>C (p.Val302Leu)
gnomAD v4
4g.71756899C>TCA2955556GCc.847G>A (p.Val283Ile)
n.731G>A
c.904G>A (p.Val302Ile)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
4g.71756899_71756906dupCA2670941964GCc.840_847dup (p.Val283AspfsTer4)
n.724_731dup
c.897_904dup (p.Val302AspfsTer4)
gnomAD v4
4g.71756900T>ACA439795866GCc.846A>T (p.Thr282=)
n.730A>T
c.903A>T (p.Thr301=)
gnomAD v4
4g.71756900T>CCA439795865GCc.846A>G (p.Thr282=)
n.730A>G
c.903A>G (p.Thr301=)
4g.71756900T>GCA439795867GCc.846A>C (p.Thr282=)
n.730A>C
c.903A>C (p.Thr301=)
4g.71756901G>ACA357205048GCc.845C>T (p.Thr282Ile)
n.729C>T
c.902C>T (p.Thr301Ile)
4g.71756901G>CCA357205046GCc.845C>G (p.Thr282Arg)
n.729C>G
c.902C>G (p.Thr301Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.71756901G=CA1467373262GCc.845C= (p.Thr282=)
n.729C=
c.902C= (p.Thr301=)
4g.71756901G>TCA357205047GCc.845C>A (p.Thr282Lys)
n.729C>A
c.902C>A (p.Thr301Lys)
gnomAD v4
4g.71756902T>ACA357205049GCc.844A>T (p.Thr282Ser)
n.728A>T
c.901A>T (p.Thr301Ser)
4g.71756902T>CCA357205050GCc.844A>G (p.Thr282Ala)
n.728A>G
c.901A>G (p.Thr301Ala)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.71756902T>GCA357205051GCc.844A>C (p.Thr282Pro)
n.728A>C
c.901A>C (p.Thr301Pro)
4g.71756902T=CA1467373263GCc.844A= (p.Thr282=)
n.728A=
c.901A= (p.Thr301=)
4g.71756903G>ACA439795871GCc.843C>T (p.His281=)
n.727C>T
c.900C>T (p.His300=)
dbSNP
4g.71756903G>CCA357205052GCc.843C>G (p.His281Gln)
n.727C>G
c.900C>G (p.His300Gln)
4g.71756903G=CA1467373264GCc.843C= (p.His281=)
n.727C=
c.900C= (p.His300=)
4g.71756903G>TCA357205053GCc.843C>A (p.His281Gln)
n.727C>A
c.900C>A (p.His300Gln)
4g.71756904T>ACA357205054GCc.842A>T (p.His281Leu)
n.726A>T
c.899A>T (p.His300Leu)
4g.71756904T>CCA2955557GCc.842A>G (p.His281Arg)
n.726A>G
c.899A>G (p.His300Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.71756904T>GCA357205055GCc.842A>C (p.His281Pro)
n.726A>C
c.899A>C (p.His300Pro)
4g.71756904T=CA1467373265GCc.842A= (p.His281=)
n.726A=
c.899A= (p.His300=)
4g.71756905G>ACA357205056GCc.841C>T (p.His281Tyr)
n.725C>T
c.898C>T (p.His300Tyr)
dbSNP gnomAD v4
4g.71756905G>CCA357205057GCc.841C>G (p.His281Asp)
n.725C>G
c.898C>G (p.His300Asp)
4g.71756905G=CA1467373266GCc.841C= (p.His281=)
n.725C=
c.898C= (p.His300=)
4g.71756905G>TCA357205058GCc.841C>A (p.His281Asn)
n.725C>A
c.898C>A (p.His300Asn)
gnomAD v4
4g.71756906T>ACA357205063GCc.840A>T (p.Glu280Asp)
n.724A>T
c.897A>T (p.Glu299Asp)
4g.71756906T>CCA2955558GCc.840A>G (p.Glu280=)
n.724A>G
c.897A>G (p.Glu299=)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.71756906T>GCA357205060GCc.840A>C (p.Glu280Asp)
n.724A>C
c.897A>C (p.Glu299Asp)
4g.71756906T=CA1467373267GCc.840A= (p.Glu280=)
n.724A=
c.897A= (p.Glu299=)
4g.71756907T>ACA357205065GCc.839A>T (p.Glu280Val)
n.723A>T
c.896A>T (p.Glu299Val)
4g.71756907T>CCA357205067GCc.839A>G (p.Glu280Gly)
n.723A>G
c.896A>G (p.Glu299Gly)
4g.71756907T>GCA357205069GCc.839A>C (p.Glu280Ala)
n.723A>C
c.896A>C (p.Glu299Ala)
4g.71756908delCA2670941965GCc.838del (p.Glu280AsnfsTer4)
n.722del
c.895del (p.Glu299AsnfsTer4)
gnomAD v4
4g.71756908C>ACA357205072GCc.838G>T (p.Glu280Ter)
n.722G>T
c.895G>T (p.Glu299Ter)
4g.71756908C=CA1467373268GCc.838G= (p.Glu280=)
n.722G=
c.895G= (p.Glu299=)
4g.71756908C>GCA357205073GCc.838G>C (p.Glu280Gln)
n.722G>C
c.895G>C (p.Glu299Gln)
4g.71756908C>TCA357205074GCc.838G>A (p.Glu280Lys)
n.722G>A
c.895G>A (p.Glu299Lys)
dbSNP gnomAD v4
4g.71756909A=CA1467373269GCc.837T= (p.Pro279=)
n.721T=
c.894T= (p.Pro298=)
4g.71756909A>CCA2955559GCc.837T>G (p.Pro279=)
n.721T>G
c.894T>G (p.Pro298=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.71756909A>GCA439795877GCc.837T>C (p.Pro279=)
n.721T>C
c.894T>C (p.Pro298=)
4g.71756909A>TCA439795878GCc.837T>A (p.Pro279=)
n.721T>A
c.894T>A (p.Pro298=)
4g.71756910G>ACA357205077GCc.836C>T (p.Pro279Leu)
n.720C>T
c.893C>T (p.Pro298Leu)
4g.71756910G>CCA357205079GCc.836C>G (p.Pro279Arg)
n.720C>G
c.893C>G (p.Pro298Arg)
gnomAD v4
4g.71756910G>TCA357205080GCc.836C>A (p.Pro279His)
n.720C>A
c.893C>A (p.Pro298His)
4g.71756911G>ACA2955560GCc.835C>T (p.Pro279Ser)
n.719C>T
c.892C>T (p.Pro298Ser)
dbSNP ExAC gnomAD v2
4g.71756911G>CCA357205085GCc.835C>G (p.Pro279Ala)
n.719C>G
c.892C>G (p.Pro298Ala)
4g.71756911G=CA1467373270GCc.835C= (p.Pro279=)
n.719C=
c.892C= (p.Pro298=)
4g.71756911G>TCA357205087GCc.835C>A (p.Pro279Thr)
n.719C>A
c.892C>A (p.Pro298Thr)
4g.71756912C>ACA439795881GCc.834G>T (p.Leu278=)
n.718G>T
c.891G>T (p.Leu297=)
dbSNP gnomAD v4
4g.71756912C=CA1467373271GCc.834G= (p.Leu278=)
n.718G=
c.891G= (p.Leu297=)
4g.71756912C>GCA439795882GCc.834G>C (p.Leu278=)
n.718G>C
c.891G>C (p.Leu297=)
4g.71756912C>TCA439795883GCc.834G>A (p.Leu278=)
n.718G>A
c.891G>A (p.Leu297=)
dbSNP gnomAD v4
4g.71756912_71756913delinsCACA1467373272GCc.833_834delinsTG (p.Leu278=)
n.717_718delinsTG
c.890_891delinsTG (p.Leu297=)
4g.71756913_71756923delCA2670941966GCc.832-8_834del
n.716-8_718del
c.889-8_891del
gnomAD v4
4g.71756913delCA917223490GCc.833del (p.Leu278ArgfsTer6)
n.717del
c.890del (p.Leu297ArgfsTer6)
dbSNP
4g.71756913A>CCA357205093GCc.833T>G (p.Leu278Arg)
n.717T>G
c.890T>G (p.Leu297Arg)
4g.71756913A>GCA357205089GCc.833T>C (p.Leu278Pro)
n.717T>C
c.890T>C (p.Leu297Pro)
4g.71756913A>TCA357205090GCc.833T>A (p.Leu278Gln)
n.717T>A
c.890T>A (p.Leu297Gln)
4g.71756914G>ACA439795887GCc.832C>T (p.Leu278=)
n.716C>T
c.889C>T (p.Leu297=)
4g.71756914G>CCA357205095GCc.832C>G (p.Leu278Val)
n.716C>G
c.889C>G (p.Leu297Val)
4g.71756914G>TCA357205097GCc.832C>A (p.Leu278Met)
n.716C>A
c.889C>A (p.Leu297Met)
gnomAD v4
4g.71756915C>ACA357205100GCc.832-1G>T (n.832-1G>T)
n.716-1G>T
c.889-1G>T (n.889-1G>T)
4g.71756915C>GCA357205101GCc.832-1G>C (n.832-1G>C)
n.716-1G>C
c.889-1G>C (n.889-1G>C)
4g.71756915C>TCA357205104GCc.832-1G>A (n.832-1G>A)
n.716-1G>A
c.889-1G>A (n.889-1G>A)
COSMIC COSMIC
4g.71756916T>ACA357205106GCc.832-2A>T (n.832-2A>T)
n.716-2A>T
c.889-2A>T (n.889-2A>T)
4g.71756916T>CCA357205108GCc.832-2A>G (n.832-2A>G)
n.716-2A>G
c.889-2A>G (n.889-2A>G)
gnomAD v4
4g.71756916T>GCA357205110GCc.832-2A>C (n.832-2A>C)
n.716-2A>C
c.889-2A>C (n.889-2A>C)
4g.71756916_71756917insCTTTGGCCATGCAATCTTCAGAGGCAGACTCCA2706447730GCc.832-3_832-2insGAGTCTGCCTCTGAAGATTGCATGGCCAAAG (n.832-3_832-2insGAGTCTGCCTCTGAAGATTGCATGGCCAAAG)
n.716-3_716-2insGAGTCTGCCTCTGAAGATTGCATGGCCAAAG
c.889-3_889-2insGAGTCTGCCTCTGAAGATTGCATGGCCAAAG (n.889-3_889-2insGAGTCTGCCTCTGAAGATTGCATGGCCAAAG)
dbSNP
4g.71756916_71756917insCTTTGGCCATGCAATCTTCAGAGGCAGACTCACAGCATTTGGAGAGGCA2706447729GCc.832-3_832-2insCCTCTCCAAATGCTGTGAGTCTGCCTCTGAAGATTGCATGGCCAAAG (n.832-3_832-2insCCTCTCCAAATGCTGTGAGTCTGCCTCTGAAGATTGCATGGCCAAAG)
n.716-3_716-2insCCTCTCCAAATGCTGTGAGTCTGCCTCTGAAGATTGCATGGCCAAAG
c.889-3_889-2insCCTCTCCAAATGCTGTGAGTCTGCCTCTGAAGATTGCATGGCCAAAG (n.889-3_889-2insCCTCTCCAAATGCTGTGAGTCTGCCTCTGAAGATTGCATGGCCAAAG)
dbSNP

Number of alleles fetched