Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.62995748C>ACA475140569SLC22A8c.957G>T (p.Arg319=)
c.588G>T (p.Arg196=)
n.984G>T
c.684G>T (p.Arg228=)
11g.62995748C>GCA475140570SLC22A8c.957G>C (p.Arg319=)
c.588G>C (p.Arg196=)
n.984G>C
c.684G>C (p.Arg228=)
11g.62995748C>TCA475140571SLC22A8c.957G>A (p.Arg319=)
c.588G>A (p.Arg196=)
n.984G>A
c.684G>A (p.Arg228=)
11g.62995749C>ACA380982081SLC22A8c.956G>T (p.Arg319Leu)
c.587G>T (p.Arg196Leu)
n.983G>T
c.683G>T (p.Arg228Leu)
11g.62995749C=CA1978012891SLC22A8c.956G= (p.Arg319=)
c.587G= (p.Arg196=)
n.983G=
c.683G= (p.Arg228=)
11g.62995749C>GCA380982084SLC22A8c.956G>C (p.Arg319Pro)
c.587G>C (p.Arg196Pro)
n.983G>C
c.683G>C (p.Arg228Pro)
11g.62995749C>TCA6059760SLC22A8c.956G>A (p.Arg319Gln)
c.587G>A (p.Arg196Gln)
n.983G>A
c.683G>A (p.Arg228Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.62995750G>ACA6059761SLC22A8c.955C>T (p.Arg319Trp)
c.586C>T (p.Arg196Trp)
n.982C>T
c.682C>T (p.Arg228Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.62995750G>CCA380982088SLC22A8c.955C>G (p.Arg319Gly)
c.586C>G (p.Arg196Gly)
n.982C>G
c.682C>G (p.Arg228Gly)
11g.62995750G=CA1978012892SLC22A8c.955C= (p.Arg319=)
c.586C= (p.Arg196=)
n.982C=
c.682C= (p.Arg228=)
11g.62995750G>TCA475140578SLC22A8c.955C>A (p.Arg319=)
c.586C>A (p.Arg196=)
n.982C>A
c.682C>A (p.Arg228=)
11g.62995751G>ACA475140579SLC22A8c.954C>T (p.Phe318=)
c.585C>T (p.Phe195=)
n.981C>T
c.681C>T (p.Phe227=)
11g.62995751G>CCA380982089SLC22A8c.954C>G (p.Phe318Leu)
c.585C>G (p.Phe195Leu)
n.981C>G
c.681C>G (p.Phe227Leu)
 gnomAD v4
11g.62995751G>TCA380982091SLC22A8c.954C>A (p.Phe318Leu)
c.585C>A (p.Phe195Leu)
n.981C>A
c.681C>A (p.Phe227Leu)
11g.62995752A=CA1978012893SLC22A8c.953T= (p.Phe318=)
c.584T= (p.Phe195=)
n.980T=
c.680T= (p.Phe227=)
11g.62995752A>CCA380982098SLC22A8c.953T>G (p.Phe318Cys)
c.584T>G (p.Phe195Cys)
n.980T>G
c.680T>G (p.Phe227Cys)
11g.62995752A>GCA380982094SLC22A8c.953T>C (p.Phe318Ser)
c.584T>C (p.Phe195Ser)
n.980T>C
c.680T>C (p.Phe227Ser)
 dbSNP
11g.62995752A>TCA380982096SLC22A8c.953T>A (p.Phe318Tyr)
c.584T>A (p.Phe195Tyr)
n.980T>A
c.680T>A (p.Phe227Tyr)
11g.62995753A>CCA380982101SLC22A8c.952T>G (p.Phe318Val)
c.583T>G (p.Phe195Val)
n.979T>G
c.679T>G (p.Phe227Val)
11g.62995753A>GCA380982104SLC22A8c.952T>C (p.Phe318Leu)
c.583T>C (p.Phe195Leu)
n.979T>C
c.679T>C (p.Phe227Leu)
11g.62995753A>TCA380982107SLC22A8c.952T>A (p.Phe318Ile)
c.583T>A (p.Phe195Ile)
n.979T>A
c.679T>A (p.Phe227Ile)
11g.62995754C>ACA475140587SLC22A8c.951G>T (p.Leu317=)
c.582G>T (p.Leu194=)
n.978G>T
c.678G>T (p.Leu226=)
11g.62995754C=CA1978012894SLC22A8c.951G= (p.Leu317=)
c.582G= (p.Leu194=)
n.978G=
c.678G= (p.Leu226=)
11g.62995754C>GCA475140588SLC22A8c.951G>C (p.Leu317=)
c.582G>C (p.Leu194=)
n.978G>C
c.678G>C (p.Leu226=)
11g.62995754C>TCA6059762SLC22A8c.951G>A (p.Leu317=)
c.582G>A (p.Leu194=)
n.978G>A
c.678G>A (p.Leu226=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.62995755A>CCA380982111SLC22A8c.950T>G (p.Leu317Arg)
c.581T>G (p.Leu194Arg)
n.977T>G
c.677T>G (p.Leu226Arg)
11g.62995755A>GCA380982113SLC22A8c.950T>C (p.Leu317Pro)
c.581T>C (p.Leu194Pro)
n.977T>C
c.677T>C (p.Leu226Pro)
11g.62995755A>TCA380982116SLC22A8c.950T>A (p.Leu317Gln)
c.581T>A (p.Leu194Gln)
n.977T>A
c.677T>A (p.Leu226Gln)
11g.62995756G>ACA475140591SLC22A8c.949C>T (p.Leu317=)
c.580C>T (p.Leu194=)
n.976C>T
c.676C>T (p.Leu226=)
 gnomAD v4
11g.62995756G>CCA380982120SLC22A8c.949C>G (p.Leu317Val)
c.580C>G (p.Leu194Val)
n.976C>G
c.676C>G (p.Leu226Val)
11g.62995756G>TCA380982121SLC22A8c.949C>A (p.Leu317Met)
c.580C>A (p.Leu194Met)
n.976C>A
c.676C>A (p.Leu226Met)
11g.62995757G>ACA475140593SLC22A8c.948C>T (p.Asp316=)
c.579C>T (p.Asp193=)
n.975C>T
c.675C>T (p.Asp225=)
 gnomAD v4
11g.62995757G>CCA380982123SLC22A8c.948C>G (p.Asp316Glu)
c.579C>G (p.Asp193Glu)
n.975C>G
c.675C>G (p.Asp225Glu)
11g.62995757G>TCA380982125SLC22A8c.948C>A (p.Asp316Glu)
c.579C>A (p.Asp193Glu)
n.975C>A
c.675C>A (p.Asp225Glu)
11g.62995758T>ACA380982132SLC22A8c.947A>T (p.Asp316Val)
c.578A>T (p.Asp193Val)
n.974A>T
c.674A>T (p.Asp225Val)
11g.62995758T>CCA380982129SLC22A8c.947A>G (p.Asp316Gly)
c.578A>G (p.Asp193Gly)
n.974A>G
c.674A>G (p.Asp225Gly)
11g.62995758T>GCA380982127SLC22A8c.947A>C (p.Asp316Ala)
c.578A>C (p.Asp193Ala)
n.974A>C
c.674A>C (p.Asp225Ala)
11g.62995759C>ACA380982134SLC22A8c.946G>T (p.Asp316Tyr)
c.577G>T (p.Asp193Tyr)
n.973G>T
c.673G>T (p.Asp225Tyr)
11g.62995759C>GCA380982136SLC22A8c.946G>C (p.Asp316His)
c.577G>C (p.Asp193His)
n.973G>C
c.673G>C (p.Asp225His)
 COSMIC
11g.62995759C>TCA380982138SLC22A8c.946G>A (p.Asp316Asn)
c.577G>A (p.Asp193Asn)
n.973G>A
c.673G>A (p.Asp225Asn)
 dbSNP gnomAD v4
11g.62995760A=CA1978012895SLC22A8c.945T= (p.Ser315=)
c.576T= (p.Ser192=)
n.972T=
c.672T= (p.Ser224=)
11g.62995760A>CCA380982141SLC22A8c.945T>G (p.Ser315Arg)
c.576T>G (p.Ser192Arg)
n.972T>G
c.672T>G (p.Ser224Arg)
11g.62995760A>GCA475140598SLC22A8c.945T>C (p.Ser315=)
c.576T>C (p.Ser192=)
n.972T>C
c.672T>C (p.Ser224=)
 dbSNP gnomAD v4
11g.62995760A>TCA380982143SLC22A8c.945T>A (p.Ser315Arg)
c.576T>A (p.Ser192Arg)
n.972T>A
c.672T>A (p.Ser224Arg)
11g.62995761C>ACA380982146SLC22A8c.944G>T (p.Ser315Ile)
c.575G>T (p.Ser192Ile)
n.971G>T
c.671G>T (p.Ser224Ile)
11g.62995761C=CA1978012896SLC22A8c.944G= (p.Ser315=)
c.575G= (p.Ser192=)
n.971G=
c.671G= (p.Ser224=)
11g.62995761C>GCA380982148SLC22A8c.944G>C (p.Ser315Thr)
c.575G>C (p.Ser192Thr)
n.971G>C
c.671G>C (p.Ser224Thr)
11g.62995761C>TCA6059763SLC22A8c.944G>A (p.Ser315Asn)
c.575G>A (p.Ser192Asn)
n.971G>A
c.671G>A (p.Ser224Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.62995762T>ACA380982151SLC22A8c.943A>T (p.Ser315Cys)
c.574A>T (p.Ser192Cys)
n.970A>T
c.670A>T (p.Ser224Cys)
11g.62995762T>CCA380982155SLC22A8c.943A>G (p.Ser315Gly)
c.574A>G (p.Ser192Gly)
n.970A>G
c.670A>G (p.Ser224Gly)
11g.62995762T>GCA380982157SLC22A8c.943A>C (p.Ser315Arg)
c.574A>C (p.Ser192Arg)
n.970A>C
c.670A>C (p.Ser224Arg)
11g.62995763T>ACA475140601SLC22A8c.942A>T (p.Ala314=)
c.573A>T (p.Ala191=)
n.969A>T
c.669A>T (p.Ala223=)
11g.62995763T>CCA475140603SLC22A8c.942A>G (p.Ala314=)
c.573A>G (p.Ala191=)
n.969A>G
c.669A>G (p.Ala223=)
11g.62995763T>GCA475140602SLC22A8c.942A>C (p.Ala314=)
c.573A>C (p.Ala191=)
n.969A>C
c.669A>C (p.Ala223=)
 gnomAD v4
11g.62995764G>ACA380982165SLC22A8c.941C>T (p.Ala314Val)
c.572C>T (p.Ala191Val)
n.968C>T
c.668C>T (p.Ala223Val)
 dbSNP
11g.62995764G>CCA380982163SLC22A8c.941C>G (p.Ala314Gly)
c.572C>G (p.Ala191Gly)
n.968C>G
c.668C>G (p.Ala223Gly)
11g.62995764G=CA1978012897SLC22A8c.941C= (p.Ala314=)
c.572C= (p.Ala191=)
n.968C=
c.668C= (p.Ala223=)
11g.62995764G>TCA380982159SLC22A8c.941C>A (p.Ala314Glu)
c.572C>A (p.Ala191Glu)
n.968C>A
c.668C>A (p.Ala223Glu)
11g.62995765C>ACA380982169SLC22A8c.940G>T (p.Ala314Ser)
c.571G>T (p.Ala191Ser)
n.967G>T
c.667G>T (p.Ala223Ser)
 dbSNP gnomAD v4
11g.62995765C=CA1978012898SLC22A8c.940G= (p.Ala314=)
c.571G= (p.Ala191=)
n.967G=
c.667G= (p.Ala223=)
11g.62995765C>GCA380982174SLC22A8c.940G>C (p.Ala314Pro)
c.571G>C (p.Ala191Pro)
n.967G>C
c.667G>C (p.Ala223Pro)
 gnomAD v4
11g.62995765C>TCA6059764SLC22A8c.940G>A (p.Ala314Thr)
c.571G>A (p.Ala191Thr)
n.967G>A
c.667G>A (p.Ala223Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.62995766G>ACA6059765SLC22A8c.939C>T (p.Thr313=)
c.570C>T (p.Thr190=)
n.966C>T
c.666C>T (p.Thr222=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.62995766G>CCA475140607SLC22A8c.939C>G (p.Thr313=)
c.570C>G (p.Thr190=)
n.966C>G
c.666C>G (p.Thr222=)
11g.62995766G=CA1978012899SLC22A8c.939C= (p.Thr313=)
c.570C= (p.Thr190=)
n.966C=
c.666C= (p.Thr222=)
11g.62995766G>TCA475140608SLC22A8c.939C>A (p.Thr313=)
c.570C>A (p.Thr190=)
n.966C>A
c.666C>A (p.Thr222=)
11g.62995767G>ACA380982179SLC22A8c.938C>T (p.Thr313Ile)
c.569C>T (p.Thr190Ile)
n.965C>T
c.665C>T (p.Thr222Ile)
 gnomAD v4
11g.62995767G>CCA380982182SLC22A8c.938C>G (p.Thr313Ser)
c.569C>G (p.Thr190Ser)
n.965C>G
c.665C>G (p.Thr222Ser)
11g.62995767G>TCA380982185SLC22A8c.938C>A (p.Thr313Asn)
c.569C>A (p.Thr190Asn)
n.965C>A
c.665C>A (p.Thr222Asn)
 COSMIC
11g.62995768T>ACA380982187SLC22A8c.937A>T (p.Thr313Ser)
c.568A>T (p.Thr190Ser)
n.964A>T
c.664A>T (p.Thr222Ser)
11g.62995768T>CCA380982189SLC22A8c.937A>G (p.Thr313Ala)
c.568A>G (p.Thr190Ala)
n.964A>G
c.664A>G (p.Thr222Ala)
 gnomAD v4
11g.62995768T>GCA380982193SLC22A8c.937A>C (p.Thr313Pro)
c.568A>C (p.Thr190Pro)
n.964A>C
c.664A>C (p.Thr222Pro)
11g.62995769G>ACA475140611SLC22A8c.936C>T (p.Tyr312=)
c.567C>T (p.Tyr189=)
n.963C>T
c.663C>T (p.Tyr221=)
11g.62995769G>CCA380982195SLC22A8c.936C>G (p.Tyr312Ter)
c.567C>G (p.Tyr189Ter)
n.963C>G
c.663C>G (p.Tyr221Ter)
11g.62995769G>TCA380982197SLC22A8c.936C>A (p.Tyr312Ter)
c.567C>A (p.Tyr189Ter)
n.963C>A
c.663C>A (p.Tyr221Ter)
11g.62995770T>ACA380982204SLC22A8c.935A>T (p.Tyr312Phe)
c.566A>T (p.Tyr189Phe)
n.962A>T
c.662A>T (p.Tyr221Phe)
11g.62995770T>CCA380982202SLC22A8c.935A>G (p.Tyr312Cys)
c.566A>G (p.Tyr189Cys)
n.962A>G
c.662A>G (p.Tyr221Cys)
 gnomAD v4
11g.62995770T>GCA380982199SLC22A8c.935A>C (p.Tyr312Ser)
c.566A>C (p.Tyr189Ser)
n.962A>C
c.662A>C (p.Tyr221Ser)
11g.62995770_62995771delCA2524724840SLC22A8c.934_935del (p.Tyr312HisfsTer4)
c.565_566del (p.Tyr189HisfsTer4)
n.961_962del
c.661_662del (p.Tyr221HisfsTer4)
11g.62995771A=CA1978012900SLC22A8c.934T= (p.Tyr312=)
c.565T= (p.Tyr189=)
n.961T=
c.661T= (p.Tyr221=)
11g.62995771A>CCA223623501SLC22A8c.934T>G (p.Tyr312Asp)
c.565T>G (p.Tyr189Asp)
n.961T>G
c.661T>G (p.Tyr221Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.62995771A>GCA380982206SLC22A8c.934T>C (p.Tyr312His)
c.565T>C (p.Tyr189His)
n.961T>C
c.661T>C (p.Tyr221His)
11g.62995771A>TCA380982209SLC22A8c.934T>A (p.Tyr312Asn)
c.565T>A (p.Tyr189Asn)
n.961T>A
c.661T>A (p.Tyr221Asn)
11g.62995772C>ACA380982211SLC22A8c.933G>T (p.Lys311Asn)
c.564G>T (p.Lys188Asn)
n.960G>T
c.660G>T (p.Lys220Asn)
11g.62995772C=CA1978012901SLC22A8c.933G= (p.Lys311=)
c.564G= (p.Lys188=)
n.960G=
c.660G= (p.Lys220=)
11g.62995772C>GCA380982213SLC22A8c.933G>C (p.Lys311Asn)
c.564G>C (p.Lys188Asn)
n.960G>C
c.660G>C (p.Lys220Asn)
11g.62995772C>TCA6059766SLC22A8c.933G>A (p.Lys311=)
c.564G>A (p.Lys188=)
n.960G>A
c.660G>A (p.Lys220=)
 dbSNP ExAC gnomAD v4
11g.62995773T>ACA380982223SLC22A8c.932A>T (p.Lys311Met)
c.563A>T (p.Lys188Met)
n.959A>T
c.659A>T (p.Lys220Met)
11g.62995773T>CCA380982220SLC22A8c.932A>G (p.Lys311Arg)
c.563A>G (p.Lys188Arg)
n.959A>G
c.659A>G (p.Lys220Arg)
11g.62995773T>GCA380982218SLC22A8c.932A>C (p.Lys311Thr)
c.563A>C (p.Lys188Thr)
n.959A>C
c.659A>C (p.Lys220Thr)
 gnomAD v4
11g.62995774T>ACA380982225SLC22A8c.931A>T (p.Lys311Ter)
c.562A>T (p.Lys188Ter)
n.958A>T
c.658A>T (p.Lys220Ter)
11g.62995774T>CCA380982226SLC22A8c.931A>G (p.Lys311Glu)
c.562A>G (p.Lys188Glu)
n.958A>G
c.658A>G (p.Lys220Glu)
11g.62995774T>GCA380982229SLC22A8c.931A>C (p.Lys311Gln)
c.562A>C (p.Lys188Gln)
n.958A>C
c.658A>C (p.Lys220Gln)
11g.62995775G>ACA475140620SLC22A8c.930C>T (p.Ala310=)
c.561C>T (p.Ala187=)
n.957C>T
c.657C>T (p.Ala219=)
11g.62995775G>CCA475140621SLC22A8c.930C>G (p.Ala310=)
c.561C>G (p.Ala187=)
n.957C>G
c.657C>G (p.Ala219=)
11g.62995775G>TCA475140622SLC22A8c.930C>A (p.Ala310=)
c.561C>A (p.Ala187=)
n.957C>A
c.657C>A (p.Ala219=)
11g.62995776G>ACA6059767SLC22A8c.929C>T (p.Ala310Val)
c.560C>T (p.Ala187Val)
n.956C>T
c.656C>T (p.Ala219Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.62995776G>CCA380982231SLC22A8c.929C>G (p.Ala310Gly)
c.560C>G (p.Ala187Gly)
n.956C>G
c.656C>G (p.Ala219Gly)
11g.62995776G=CA1978012902SLC22A8c.929C= (p.Ala310=)
c.560C= (p.Ala187=)
n.956C=
c.656C= (p.Ala219=)
11g.62995776G>TCA380982233SLC22A8c.929C>A (p.Ala310Asp)
c.560C>A (p.Ala187Asp)
n.956C>A
c.656C>A (p.Ala219Asp)
11g.62995777C>ACA380982235SLC22A8c.928G>T (p.Ala310Ser)
c.559G>T (p.Ala187Ser)
n.955G>T
c.655G>T (p.Ala219Ser)
 gnomAD v4
11g.62995777C=CA1978012903SLC22A8c.928G= (p.Ala310=)
c.559G= (p.Ala187=)
n.955G=
c.655G= (p.Ala219=)
11g.62995777C>GCA380982238SLC22A8c.928G>C (p.Ala310Pro)
c.559G>C (p.Ala187Pro)
n.955G>C
c.655G>C (p.Ala219Pro)
11g.62995777C>TCA380982237SLC22A8c.928G>A (p.Ala310Thr)
c.559G>A (p.Ala187Thr)
n.955G>A
c.655G>A (p.Ala219Thr)
 dbSNP gnomAD v3 gnomAD v4
11g.62995778C>ACA380982240SLC22A8c.927G>T (p.Lys309Asn)
c.558G>T (p.Lys186Asn)
n.954G>T
c.654G>T (p.Lys218Asn)
11g.62995778C>GCA380982241SLC22A8c.927G>C (p.Lys309Asn)
c.558G>C (p.Lys186Asn)
n.954G>C
c.654G>C (p.Lys218Asn)
11g.62995778C>TCA475140628SLC22A8c.927G>A (p.Lys309=)
c.558G>A (p.Lys186=)
n.954G>A
c.654G>A (p.Lys218=)
11g.62995779T>ACA380982243SLC22A8c.926A>T (p.Lys309Met)
c.557A>T (p.Lys186Met)
n.953A>T
c.653A>T (p.Lys218Met)
11g.62995779T>CCA380982245SLC22A8c.926A>G (p.Lys309Arg)
c.557A>G (p.Lys186Arg)
n.953A>G
c.653A>G (p.Lys218Arg)
 COSMIC
11g.62995779T>GCA380982246SLC22A8c.926A>C (p.Lys309Thr)
c.557A>C (p.Lys186Thr)
n.953A>C
c.653A>C (p.Lys218Thr)
11g.62995780T>ACA380982248SLC22A8c.925A>T (p.Lys309Ter)
c.556A>T (p.Lys186Ter)
n.952A>T
c.652A>T (p.Lys218Ter)
11g.62995780T>CCA380982250SLC22A8c.925A>G (p.Lys309Glu)
c.556A>G (p.Lys186Glu)
n.952A>G
c.652A>G (p.Lys218Glu)
11g.62995780T>GCA380982252SLC22A8c.925A>C (p.Lys309Gln)
c.556A>C (p.Lys186Gln)
n.952A>C
c.652A>C (p.Lys218Gln)
11g.62995781G>ACA475140632SLC22A8c.924C>T (p.Ala308=)
c.555C>T (p.Ala185=)
n.951C>T
c.651C>T (p.Ala217=)
11g.62995781G>CCA475140634SLC22A8c.924C>G (p.Ala308=)
c.555C>G (p.Ala185=)
n.951C>G
c.651C>G (p.Ala217=)
11g.62995781G>TCA475140635SLC22A8c.924C>A (p.Ala308=)
c.555C>A (p.Ala185=)
n.951C>A
c.651C>A (p.Ala217=)
11g.62995782G>ACA380982253SLC22A8c.923C>T (p.Ala308Val)
c.554C>T (p.Ala185Val)
n.950C>T
c.650C>T (p.Ala217Val)
11g.62995782G>CCA380982254SLC22A8c.923C>G (p.Ala308Gly)
c.554C>G (p.Ala185Gly)
n.950C>G
c.650C>G (p.Ala217Gly)
11g.62995782G>TCA380982256SLC22A8c.923C>A (p.Ala308Asp)
c.554C>A (p.Ala185Asp)
n.950C>A
c.650C>A (p.Ala217Asp)
11g.62995783C>ACA380982258SLC22A8c.922G>T (p.Ala308Ser)
c.553G>T (p.Ala185Ser)
n.949G>T
c.649G>T (p.Ala217Ser)
11g.62995783C=CA1978012904SLC22A8c.922G= (p.Ala308=)
c.553G= (p.Ala185=)
n.949G=
c.649G= (p.Ala217=)
11g.62995783C>GCA380982263SLC22A8c.922G>C (p.Ala308Pro)
c.553G>C (p.Ala185Pro)
n.949G>C
c.649G>C (p.Ala217Pro)
 dbSNP
11g.62995783C>TCA380982260SLC22A8c.922G>A (p.Ala308Thr)
c.553G>A (p.Ala185Thr)
n.949G>A
c.649G>A (p.Ala217Thr)
11g.62995784C>ACA380982264SLC22A8c.921G>T (p.Leu307Phe)
c.552G>T (p.Leu184Phe)
n.948G>T
c.648G>T (p.Leu216Phe)
11g.62995784C=CA1978012905SLC22A8c.921G= (p.Leu307=)
c.552G= (p.Leu184=)
n.948G=
c.648G= (p.Leu216=)
11g.62995784C>GCA380982265SLC22A8c.921G>C (p.Leu307Phe)
c.552G>C (p.Leu184Phe)
n.948G>C
c.648G>C (p.Leu216Phe)
 dbSNP gnomAD v3 gnomAD v4
11g.62995784C>TCA475140640SLC22A8c.921G>A (p.Leu307=)
c.552G>A (p.Leu184=)
n.948G>A
c.648G>A (p.Leu216=)
11g.62995785A=CA1978012906SLC22A8c.920T= (p.Leu307=)
c.551T= (p.Leu184=)
n.947T=
c.647T= (p.Leu216=)
11g.62995785A>CCA380982267SLC22A8c.920T>G (p.Leu307Trp)
c.551T>G (p.Leu184Trp)
n.947T>G
c.647T>G (p.Leu216Trp)
11g.62995785A>GCA6059768SLC22A8c.920T>C (p.Leu307Ser)
c.551T>C (p.Leu184Ser)
n.947T>C
c.647T>C (p.Leu216Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.62995785A>TCA380982269SLC22A8c.920T>A (p.Leu307Ter)
c.551T>A (p.Leu184Ter)
n.947T>A
c.647T>A (p.Leu216Ter)
11g.62995786A>CCA380982271SLC22A8c.919T>G (p.Leu307Val)
c.550T>G (p.Leu184Val)
n.946T>G
c.646T>G (p.Leu216Val)
11g.62995786A>GCA475140642SLC22A8c.919T>C (p.Leu307=)
c.550T>C (p.Leu184=)
n.946T>C
c.646T>C (p.Leu216=)
11g.62995786A>TCA380982273SLC22A8c.919T>A (p.Leu307Met)
c.550T>A (p.Leu184Met)
n.946T>A
c.646T>A (p.Leu216Met)
11g.62995787G>ACA6059769SLC22A8c.918C>T (p.Ser306=)
c.549C>T (p.Ser183=)
n.945C>T
c.645C>T (p.Ser215=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.62995787G>CCA475140643SLC22A8c.918C>G (p.Ser306=)
c.549C>G (p.Ser183=)
n.945C>G
c.645C>G (p.Ser215=)
11g.62995787G=CA1978012907SLC22A8c.918C= (p.Ser306=)
c.549C= (p.Ser183=)
n.945C=
c.645C= (p.Ser215=)
11g.62995787G>TCA475140644SLC22A8c.918C>A (p.Ser306=)
c.549C>A (p.Ser183=)
n.945C>A
c.645C>A (p.Ser215=)
11g.62995788G>ACA223623525SLC22A8c.917C>T (p.Ser306Phe)
c.548C>T (p.Ser183Phe)
n.944C>T
c.644C>T (p.Ser215Phe)
 dbSNP gnomAD v4 COSMIC
11g.62995788G>CCA380982276SLC22A8c.917C>G (p.Ser306Cys)
c.548C>G (p.Ser183Cys)
n.944C>G
c.644C>G (p.Ser215Cys)
11g.62995788G=CA1978012908SLC22A8c.917C= (p.Ser306=)
c.548C= (p.Ser183=)
n.944C=
c.644C= (p.Ser215=)
11g.62995788G>TCA380982278SLC22A8c.917C>A (p.Ser306Tyr)
c.548C>A (p.Ser183Tyr)
n.944C>A
c.644C>A (p.Ser215Tyr)
11g.62995789A>CCA380982284SLC22A8c.916T>G (p.Ser306Ala)
c.547T>G (p.Ser183Ala)
n.943T>G
c.643T>G (p.Ser215Ala)
11g.62995789A>GCA380982282SLC22A8c.916T>C (p.Ser306Pro)
c.547T>C (p.Ser183Pro)
n.943T>C
c.643T>C (p.Ser215Pro)
11g.62995789A>TCA380982280SLC22A8c.916T>A (p.Ser306Thr)
c.547T>A (p.Ser183Thr)
n.943T>A
c.643T>A (p.Ser215Thr)
11g.62995790G>ACA475140650SLC22A8c.915C>T (p.Ile305=)
c.546C>T (p.Ile182=)
n.942C>T
c.642C>T (p.Ile214=)
11g.62995790G>CCA380982286SLC22A8c.915C>G (p.Ile305Met)
c.546C>G (p.Ile182Met)
n.942C>G
c.642C>G (p.Ile214Met)
11g.62995790G=CA1978012909SLC22A8c.915C= (p.Ile305=)
c.546C= (p.Ile182=)
n.942C=
c.642C= (p.Ile214=)
11g.62995790G>TCA475140651SLC22A8c.915C>A (p.Ile305=)
c.546C>A (p.Ile182=)
n.942C>A
c.642C>A (p.Ile214=)
 dbSNP gnomAD v4
11g.62995791A>CCA380982287SLC22A8c.914T>G (p.Ile305Ser)
c.545T>G (p.Ile182Ser)
n.941T>G
c.641T>G (p.Ile214Ser)
11g.62995791A>GCA380982288SLC22A8c.914T>C (p.Ile305Thr)
c.545T>C (p.Ile182Thr)
n.941T>C
c.641T>C (p.Ile214Thr)
11g.62995791A>TCA380982290SLC22A8c.914T>A (p.Ile305Asn)
c.545T>A (p.Ile182Asn)
n.941T>A
c.641T>A (p.Ile214Asn)
11g.62995792T>ACA6059770SLC22A8c.913A>T (p.Ile305Phe)
c.544A>T (p.Ile182Phe)
n.940A>T
c.640A>T (p.Ile214Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.62995792T>CCA380982293SLC22A8c.913A>G (p.Ile305Val)
c.544A>G (p.Ile182Val)
n.940A>G
c.640A>G (p.Ile214Val)
11g.62995792T>GCA380982294SLC22A8c.913A>C (p.Ile305Leu)
c.544A>C (p.Ile182Leu)
n.940A>C
c.640A>C (p.Ile214Leu)
11g.62995792T=CA1978012910SLC22A8c.913A= (p.Ile305=)
c.544A= (p.Ile182=)
n.940A=
c.640A= (p.Ile214=)
11g.62995793C>ACA380982296SLC22A8c.912G>T (p.Glu304Asp)
c.543G>T (p.Glu181Asp)
n.939G>T
c.639G>T (p.Glu213Asp)
 gnomAD v4
11g.62995793C>GCA380982298SLC22A8c.912G>C (p.Glu304Asp)
c.543G>C (p.Glu181Asp)
n.939G>C
c.639G>C (p.Glu213Asp)
11g.62995793C>TCA475140654SLC22A8c.912G>A (p.Glu304=)
c.543G>A (p.Glu181=)
n.939G>A
c.639G>A (p.Glu213=)
11g.62995794T>ACA380982300SLC22A8c.911A>T (p.Glu304Val)
c.542A>T (p.Glu181Val)
n.938A>T
c.638A>T (p.Glu213Val)
 gnomAD v4
11g.62995794T>CCA380982301SLC22A8c.911A>G (p.Glu304Gly)
c.542A>G (p.Glu181Gly)
n.938A>G
c.638A>G (p.Glu213Gly)
11g.62995794T>GCA380982303SLC22A8c.911A>C (p.Glu304Ala)
c.542A>C (p.Glu181Ala)
n.938A>C
c.638A>C (p.Glu213Ala)
11g.62995795C>ACA380982309SLC22A8c.910G>T (p.Glu304Ter)
c.541G>T (p.Glu181Ter)
n.937G>T
c.637G>T (p.Glu213Ter)
11g.62995795C=CA1978012911SLC22A8c.910G= (p.Glu304=)
c.541G= (p.Glu181=)
n.937G=
c.637G= (p.Glu213=)
11g.62995795C>GCA380982307SLC22A8c.910G>C (p.Glu304Gln)
c.541G>C (p.Glu181Gln)
n.937G>C
c.637G>C (p.Glu213Gln)
 dbSNP gnomAD v2 gnomAD v4
11g.62995795C>TCA380982305SLC22A8c.910G>A (p.Glu304Lys)
c.541G>A (p.Glu181Lys)
n.937G>A
c.637G>A (p.Glu213Lys)
 dbSNP gnomAD v3 gnomAD v4
11g.62995796C>ACA380982310SLC22A8c.909G>T (p.Lys303Asn)
c.540G>T (p.Lys180Asn)
n.936G>T
c.636G>T (p.Lys212Asn)
11g.62995796C>GCA380982312SLC22A8c.909G>C (p.Lys303Asn)
c.540G>C (p.Lys180Asn)
n.936G>C
c.636G>C (p.Lys212Asn)
11g.62995796C>TCA475140657SLC22A8c.909G>A (p.Lys303=)
c.540G>A (p.Lys180=)
n.936G>A
c.636G>A (p.Lys212=)
11g.62995797T>ACA380982313SLC22A8c.908A>T (p.Lys303Met)
c.539A>T (p.Lys180Met)
n.935A>T
c.635A>T (p.Lys212Met)
11g.62995797T>CCA380982315SLC22A8c.908A>G (p.Lys303Arg)
c.539A>G (p.Lys180Arg)
n.935A>G
c.635A>G (p.Lys212Arg)
11g.62995797T>GCA380982314SLC22A8c.908A>C (p.Lys303Thr)
c.539A>C (p.Lys180Thr)
n.935A>C
c.635A>C (p.Lys212Thr)
 gnomAD v4
11g.62995798T>ACA380982317SLC22A8c.907A>T (p.Lys303Ter)
c.538A>T (p.Lys180Ter)
n.934A>T
c.634A>T (p.Lys212Ter)
11g.62995798T>CCA380982319SLC22A8c.907A>G (p.Lys303Glu)
c.538A>G (p.Lys180Glu)
n.934A>G
c.634A>G (p.Lys212Glu)
 gnomAD v4
11g.62995798T>GCA380982320SLC22A8c.907A>C (p.Lys303Gln)
c.538A>C (p.Lys180Gln)
n.934A>C
c.634A>C (p.Lys212Gln)
11g.62995799C>ACA380982321SLC22A8c.906G>T (p.Gln302His)
c.537G>T (p.Gln179His)
n.933G>T
c.633G>T (p.Gln211His)
11g.62995799C=CA1978012912SLC22A8c.906G= (p.Gln302=)
c.537G= (p.Gln179=)
n.933G=
c.633G= (p.Gln211=)
11g.62995799C>GCA380982324SLC22A8c.906G>C (p.Gln302His)
c.537G>C (p.Gln179His)
n.933G>C
c.633G>C (p.Gln211His)
11g.62995799C>TCA475140661SLC22A8c.906G>A (p.Gln302=)
c.537G>A (p.Gln179=)
n.933G>A
c.633G>A (p.Gln211=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
11g.62995800T>ACA380982326SLC22A8c.905A>T (p.Gln302Leu)
c.536A>T (p.Gln179Leu)
n.932A>T
c.632A>T (p.Gln211Leu)
11g.62995800T>CCA380982328SLC22A8c.905A>G (p.Gln302Arg)
c.536A>G (p.Gln179Arg)
n.932A>G
c.632A>G (p.Gln211Arg)
11g.62995800T>GCA380982330SLC22A8c.905A>C (p.Gln302Pro)
c.536A>C (p.Gln179Pro)
n.932A>C
c.632A>C (p.Gln211Pro)
11g.62995801G>ACA380982332SLC22A8c.904C>T (p.Gln302Ter)
c.535C>T (p.Gln179Ter)
n.931C>T
c.631C>T (p.Gln211Ter)
 dbSNP gnomAD v3 gnomAD v4
11g.62995801G>CCA380982333SLC22A8c.904C>G (p.Gln302Glu)
c.535C>G (p.Gln179Glu)
n.931C>G
c.631C>G (p.Gln211Glu)
11g.62995801G=CA1978012913SLC22A8c.904C= (p.Gln302=)
c.535C= (p.Gln179=)
n.931C=
c.631C= (p.Gln211=)
11g.62995801G>TCA380982334SLC22A8c.904C>A (p.Gln302Lys)
c.535C>A (p.Gln179Lys)
n.931C>A
c.631C>A (p.Gln211Lys)
11g.62995802C>ACA475140665SLC22A8c.903G>T (p.Leu301=)
c.534G>T (p.Leu178=)
n.930G>T
c.630G>T (p.Leu210=)
11g.62995802C=CA1978012914SLC22A8c.903G= (p.Leu301=)
c.534G= (p.Leu178=)
n.930G=
c.630G= (p.Leu210=)
11g.62995802C>GCA475140666SLC22A8c.903G>C (p.Leu301=)
c.534G>C (p.Leu178=)
n.930G>C
c.630G>C (p.Leu210=)
11g.62995802C>TCA475140667SLC22A8c.903G>A (p.Leu301=)
c.534G>A (p.Leu178=)
n.930G>A
c.630G>A (p.Leu210=)
 dbSNP gnomAD v2 gnomAD v4
11g.62995803A=CA1978012915SLC22A8c.902T= (p.Leu301=)
c.533T= (p.Leu178=)
n.929T=
c.629T= (p.Leu210=)
11g.62995803A>CCA380982339SLC22A8c.902T>G (p.Leu301Arg)
c.533T>G (p.Leu178Arg)
n.929T>G
c.629T>G (p.Leu210Arg)
 dbSNP gnomAD v4
11g.62995803A>GCA380982335SLC22A8c.902T>C (p.Leu301Pro)
c.533T>C (p.Leu178Pro)
n.929T>C
c.629T>C (p.Leu210Pro)
11g.62995803A>TCA380982337SLC22A8c.902T>A (p.Leu301Gln)
c.533T>A (p.Leu178Gln)
n.929T>A
c.629T>A (p.Leu210Gln)
11g.62995804G>ACA475140668SLC22A8c.901C>T (p.Leu301=)
c.532C>T (p.Leu178=)
n.928C>T
c.628C>T (p.Leu210=)
 dbSNP gnomAD v2
11g.62995804G>CCA380982341SLC22A8c.901C>G (p.Leu301Val)
c.532C>G (p.Leu178Val)
n.928C>G
c.628C>G (p.Leu210Val)
11g.62995804G=CA1978012916SLC22A8c.901C= (p.Leu301=)
c.532C= (p.Leu178=)
n.928C=
c.628C= (p.Leu210=)
11g.62995804G>TCA380982342SLC22A8c.901C>A (p.Leu301Met)
c.532C>A (p.Leu178Met)
n.928C>A
c.628C>A (p.Leu210Met)
11g.62995805G>ACA475140670SLC22A8c.900C>T (p.Asn300=)
c.531C>T (p.Asn177=)
n.927C>T
c.627C>T (p.Asn209=)
11g.62995805G>CCA380982344SLC22A8c.900C>G (p.Asn300Lys)
c.531C>G (p.Asn177Lys)
n.927C>G
c.627C>G (p.Asn209Lys)
11g.62995805G=CA1978012917SLC22A8c.900C= (p.Asn300=)
c.531C= (p.Asn177=)
n.927C=
c.627C= (p.Asn209=)
11g.62995805G>TCA380982345SLC22A8c.900C>A (p.Asn300Lys)
c.531C>A (p.Asn177Lys)
n.927C>A
c.627C>A (p.Asn209Lys)
 dbSNP gnomAD v2 gnomAD v4
11g.62995806T>ACA380982348SLC22A8c.899A>T (p.Asn300Ile)
c.530A>T (p.Asn177Ile)
n.926A>T
c.626A>T (p.Asn209Ile)
11g.62995806T>CCA380982350SLC22A8c.899A>G (p.Asn300Ser)
c.530A>G (p.Asn177Ser)
n.926A>G
c.626A>G (p.Asn209Ser)
 dbSNP gnomAD v2 gnomAD v4
11g.62995806T>GCA380982351SLC22A8c.899A>C (p.Asn300Thr)
c.530A>C (p.Asn177Thr)
n.926A>C
c.626A>C (p.Asn209Thr)
11g.62995806T=CA1978012918SLC22A8c.899A= (p.Asn300=)
c.530A= (p.Asn177=)
n.926A=
c.626A= (p.Asn209=)
11g.62995807T>ACA6059771SLC22A8c.898A>T (p.Asn300Tyr)
c.529A>T (p.Asn177Tyr)
n.925A>T
c.625A>T (p.Asn209Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.62995807T>CCA380982354SLC22A8c.898A>G (p.Asn300Asp)
c.529A>G (p.Asn177Asp)
n.925A>G
c.625A>G (p.Asn209Asp)
11g.62995807T>GCA380982355SLC22A8c.898A>C (p.Asn300His)
c.529A>C (p.Asn177His)
n.925A>C
c.625A>C (p.Asn209His)
11g.62995807T=CA1978012919SLC22A8c.898A= (p.Asn300=)
c.529A= (p.Asn177=)
n.925A=
c.625A= (p.Asn209=)
11g.62995808G>ACA475140674SLC22A8c.897C>T (p.Leu299=)
c.528C>T (p.Leu176=)
n.924C>T
c.624C>T (p.Leu208=)
11g.62995808G>CCA475140675SLC22A8c.897C>G (p.Leu299=)
c.528C>G (p.Leu176=)
n.924C>G
c.624C>G (p.Leu208=)
11g.62995808G>TCA475140676SLC22A8c.897C>A (p.Leu299=)
c.528C>A (p.Leu176=)
n.924C>A
c.624C>A (p.Leu208=)
11g.62995808_62995809insCCA475140677SLC22A8c.896_897insG (p.Asn300GlnfsTer17)
c.527_528insG (p.Asn177GlnfsTer17)
n.923_924insG
c.623_624insG (p.Asn209GlnfsTer17)
 gnomAD v4
11g.62995809A=CA1978012920SLC22A8c.896T= (p.Leu299=)
c.527T= (p.Leu176=)
n.923T=
c.623T= (p.Leu208=)
11g.62995809A>CCA380982359SLC22A8c.896T>G (p.Leu299Arg)
c.527T>G (p.Leu176Arg)
n.923T>G
c.623T>G (p.Leu208Arg)
11g.62995809A>GCA380982361SLC22A8c.896T>C (p.Leu299Pro)
c.527T>C (p.Leu176Pro)
n.923T>C
c.623T>C (p.Leu208Pro)
 dbSNP
11g.62995809A>TCA380982357SLC22A8c.896T>A (p.Leu299His)
c.527T>A (p.Leu176His)
n.923T>A
c.623T>A (p.Leu208His)
11g.62995810G>ACA380982362SLC22A8c.895C>T (p.Leu299Phe)
c.526C>T (p.Leu176Phe)
n.922C>T
c.622C>T (p.Leu208Phe)
11g.62995810G>CCA380982364SLC22A8c.895C>G (p.Leu299Val)
c.526C>G (p.Leu176Val)
n.922C>G
c.622C>G (p.Leu208Val)
11g.62995810G>TCA380982366SLC22A8c.895C>A (p.Leu299Ile)
c.526C>A (p.Leu176Ile)
n.922C>A
c.622C>A (p.Leu208Ile)
11g.62995810_62995812delCA475140681SLC22A8c.893_895del (p.Lys298_Leu299delinsIle)
c.524_526del (p.Lys175_Leu176delinsIle)
n.920_922del
c.620_622del (p.Lys207_Leu208delinsIle)
 gnomAD v4
11g.62995811T>ACA380982367SLC22A8c.894A>T (p.Lys298Asn)
c.525A>T (p.Lys175Asn)
n.921A>T
c.621A>T (p.Lys207Asn)
11g.62995811T>CCA475140682SLC22A8c.894A>G (p.Lys298=)
c.525A>G (p.Lys175=)
n.921A>G
c.621A>G (p.Lys207=)
11g.62995811T>GCA380982369SLC22A8c.894A>C (p.Lys298Asn)
c.525A>C (p.Lys175Asn)
n.921A>C
c.621A>C (p.Lys207Asn)
11g.62995812T>ACA380982370SLC22A8c.893A>T (p.Lys298Ile)
c.524A>T (p.Lys175Ile)
n.920A>T
c.620A>T (p.Lys207Ile)
11g.62995812T>CCA380982372SLC22A8c.893A>G (p.Lys298Arg)
c.524A>G (p.Lys175Arg)
n.920A>G
c.620A>G (p.Lys207Arg)
 dbSNP gnomAD v3 gnomAD v4
11g.62995812T>GCA380982374SLC22A8c.893A>C (p.Lys298Thr)
c.524A>C (p.Lys175Thr)
n.920A>C
c.620A>C (p.Lys207Thr)
11g.62995812T=CA1978012921SLC22A8c.893A= (p.Lys298=)
c.524A= (p.Lys175=)
n.920A=
c.620A= (p.Lys207=)
11g.62995813T>ACA380982375SLC22A8c.892A>T (p.Lys298Ter)
c.523A>T (p.Lys175Ter)
n.919A>T
c.619A>T (p.Lys207Ter)
11g.62995813T>CCA380982376SLC22A8c.892A>G (p.Lys298Glu)
c.523A>G (p.Lys175Glu)
n.919A>G
c.619A>G (p.Lys207Glu)
11g.62995813T>GCA380982377SLC22A8c.892A>C (p.Lys298Gln)
c.523A>C (p.Lys175Gln)
n.919A>C
c.619A>C (p.Lys207Gln)
11g.62995814G>ACA475140687SLC22A8c.891C>T (p.Leu297=)
c.522C>T (p.Leu174=)
n.918C>T
c.618C>T (p.Leu206=)
11g.62995814G>CCA475140685SLC22A8c.891C>G (p.Leu297=)
c.522C>G (p.Leu174=)
n.918C>G
c.618C>G (p.Leu206=)
 COSMIC
11g.62995814G>TCA475140686SLC22A8c.891C>A (p.Leu297=)
c.522C>A (p.Leu174=)
n.918C>A
c.618C>A (p.Leu206=)
 gnomAD v4
11g.62995815A>CCA380982380SLC22A8c.890T>G (p.Leu297Arg)
c.521T>G (p.Leu174Arg)
n.917T>G
c.617T>G (p.Leu206Arg)
11g.62995815A>GCA380982382SLC22A8c.890T>C (p.Leu297Pro)
c.521T>C (p.Leu174Pro)
n.917T>C
c.617T>C (p.Leu206Pro)
11g.62995815A>TCA380982378SLC22A8c.890T>A (p.Leu297His)
c.521T>A (p.Leu174His)
n.917T>A
c.617T>A (p.Leu206His)
11g.62995816G>ACA380982384SLC22A8c.889C>T (p.Leu297Phe)
c.520C>T (p.Leu174Phe)
n.916C>T
c.616C>T (p.Leu206Phe)
11g.62995816G>CCA380982385SLC22A8c.889C>G (p.Leu297Val)
c.520C>G (p.Leu174Val)
n.916C>G
c.616C>G (p.Leu206Val)
11g.62995816G>TCA380982387SLC22A8c.889C>A (p.Leu297Ile)
c.520C>A (p.Leu174Ile)
n.916C>A
c.616C>A (p.Leu206Ile)
11g.62995817C>ACA380982388SLC22A8c.888G>T (p.Glu296Asp)
c.519G>T (p.Glu173Asp)
n.915G>T
c.615G>T (p.Glu205Asp)
11g.62995817C=CA1978012922SLC22A8c.888G= (p.Glu296=)
c.519G= (p.Glu173=)
n.915G=
c.615G= (p.Glu205=)
11g.62995817C>GCA380982389SLC22A8c.888G>C (p.Glu296Asp)
c.519G>C (p.Glu173Asp)
n.915G>C
c.615G>C (p.Glu205Asp)
 dbSNP gnomAD v3 gnomAD v4
11g.62995817C>TCA475140691SLC22A8c.888G>A (p.Glu296=)
c.519G>A (p.Glu173=)
n.915G>A
c.615G>A (p.Glu205=)
11g.62995818T>ACA380982395SLC22A8c.887A>T (p.Glu296Val)
c.518A>T (p.Glu173Val)
n.914A>T
c.614A>T (p.Glu205Val)
11g.62995818T>CCA380982392SLC22A8c.887A>G (p.Glu296Gly)
c.518A>G (p.Glu173Gly)
n.914A>G
c.614A>G (p.Glu205Gly)
11g.62995818T>GCA380982394SLC22A8c.887A>C (p.Glu296Ala)
c.518A>C (p.Glu173Ala)
n.914A>C
c.614A>C (p.Glu205Ala)
11g.62995819C>ACA380982397SLC22A8c.886G>T (p.Glu296Ter)
c.517G>T (p.Glu173Ter)
n.913G>T
c.613G>T (p.Glu205Ter)
11g.62995819C=CA1978012923SLC22A8c.886G= (p.Glu296=)
c.517G= (p.Glu173=)
n.913G=
c.613G= (p.Glu205=)
11g.62995819C>GCA380982399SLC22A8c.886G>C (p.Glu296Gln)
c.517G>C (p.Glu173Gln)
n.913G>C
c.613G>C (p.Glu205Gln)
 dbSNP gnomAD v3 gnomAD v4
11g.62995819C>TCA380982400SLC22A8c.886G>A (p.Glu296Lys)
c.517G>A (p.Glu173Lys)
n.913G>A
c.613G>A (p.Glu205Lys)
11g.62995820C>ACA380982401SLC22A8c.886-1G>T (n.886-1G>T)
c.517-1G>T (n.517-1G>T)
n.912G>T
c.613-1G>T (n.613-1G>T)
11g.62995820C>GCA380982402SLC22A8c.886-1G>C (n.886-1G>C)
c.517-1G>C (n.517-1G>C)
n.912G>C
c.613-1G>C (n.613-1G>C)
11g.62995820C>TCA380982403SLC22A8c.886-1G>A (n.886-1G>A)
c.517-1G>A (n.517-1G>A)
n.912G>A
c.613-1G>A (n.613-1G>A)
11g.62995821T>ACA380982406SLC22A8c.886-2A>T (n.886-2A>T)
c.517-2A>T (n.517-2A>T)
n.911A>T
c.613-2A>T (n.613-2A>T)
11g.62995821T>CCA380982408SLC22A8c.886-2A>G (n.886-2A>G)
c.517-2A>G (n.517-2A>G)
n.911A>G
c.613-2A>G (n.613-2A>G)
11g.62995821T>GCA380982405SLC22A8c.886-2A>C (n.886-2A>C)
c.517-2A>C (n.517-2A>C)
n.911A>C
c.613-2A>C (n.613-2A>C)
11g.62995822delCA2574853368SLC22A8c.886-2del (n.886-2del)
c.517-2del (n.517-2del)
n.911del
c.613-2del (n.613-2del)
11g.62995822T>ACA2614035201SLC22A8c.886-3A>T (n.886-3A>T)
c.517-3A>T (n.517-3A>T)
n.910A>T
c.613-3A>T (n.613-3A>T)
 gnomAD v4
11g.62995823C>ACA599799161SLC22A8c.886-4G>T (n.886-4G>T)
c.517-4G>T (n.517-4G>T)
n.909G>T
c.613-4G>T (n.613-4G>T)
 dbSNP gnomAD v2 gnomAD v4
11g.62995823C=CA1978012924SLC22A8c.886-4G= (n.886-4G=)
c.517-4G= (n.517-4G=)
n.909G=
c.613-4G= (n.613-4G=)
11g.62995823C>GCA2514419511SLC22A8c.886-4G>C (n.886-4G>C)
c.517-4G>C (n.517-4G>C)
n.909G>C
c.613-4G>C (n.613-4G>C)
 gnomAD v4
11g.62995823C>TCA6059772SLC22A8c.886-4G>A (n.886-4G>A)
c.517-4G>A (n.517-4G>A)
n.909G>A
c.613-4G>A (n.613-4G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.62995824G>ACA6059773SLC22A8c.886-5C>T (n.886-5C>T)
c.517-5C>T (n.517-5C>T)
n.908C>T
c.613-5C>T (n.613-5C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.62995824G=CA1978012925SLC22A8c.886-5C= (n.886-5C=)
c.517-5C= (n.517-5C=)
n.908C=
c.613-5C= (n.613-5C=)
11g.62995824G>TCA2614035202SLC22A8c.886-5C>A (n.886-5C>A)
c.517-5C>A (n.517-5C>A)
n.908C>A
c.613-5C>A (n.613-5C>A)
 gnomAD v4
11g.62995826G>ACA2574853369SLC22A8c.886-7C>T (n.886-7C>T)
c.517-7C>T (n.517-7C>T)
n.906C>T
c.613-7C>T (n.613-7C>T)
11g.62995826G>TCA2614035203SLC22A8c.886-7C>A (n.886-7C>A)
c.517-7C>A (n.517-7C>A)
n.906C>A
c.613-7C>A (n.613-7C>A)
 gnomAD v4
11g.62995827C=CA1978012926SLC22A8c.886-8G= (n.886-8G=)
c.517-8G= (n.517-8G=)
n.905G=
c.613-8G= (n.613-8G=)
11g.62995827C>TCA223623563SLC22A8c.886-8G>A (n.886-8G>A)
c.517-8G>A (n.517-8G>A)
n.905G>A
c.613-8G>A (n.613-8G>A)
 dbSNP gnomAD v2 gnomAD v4
11g.62995828A=CA1978012927SLC22A8c.886-9T= (n.886-9T=)
c.517-9T= (n.517-9T=)
n.904T=
c.613-9T= (n.613-9T=)
11g.62995828A>CCA2614035204SLC22A8c.886-9T>G (n.886-9T>G)
c.517-9T>G (n.517-9T>G)
n.904T>G
c.613-9T>G (n.613-9T>G)
 gnomAD v4
11g.62995828A>GCA1978012928SLC22A8c.886-9T>C (n.886-9T>C)
c.517-9T>C (n.517-9T>C)
n.904T>C
c.613-9T>C (n.613-9T>C)
 dbSNP
11g.62995828A>TCA2574853370SLC22A8c.886-9T>A (n.886-9T>A)
c.517-9T>A (n.517-9T>A)
n.904T>A
c.613-9T>A (n.613-9T>A)
11g.62995830A>CCA2614035205SLC22A8c.886-11T>G (n.886-11T>G)
c.517-11T>G (n.517-11T>G)
n.902T>G
c.613-11T>G (n.613-11T>G)
 gnomAD v4
11g.62995831G>ACA2614035206SLC22A8c.886-12C>T (n.886-12C>T)
c.517-12C>T (n.517-12C>T)
n.901C>T
c.613-12C>T (n.613-12C>T)
 gnomAD v4
11g.62995832G>ACA6059774SLC22A8c.886-13C>T (n.886-13C>T)
c.517-13C>T (n.517-13C>T)
n.900C>T
c.613-13C>T (n.613-13C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.62995832G=CA1978012929SLC22A8c.886-13C= (n.886-13C=)
c.517-13C= (n.517-13C=)
n.900C=
c.613-13C= (n.613-13C=)
11g.62995832G>TCA2614035207SLC22A8c.886-13C>A (n.886-13C>A)
c.517-13C>A (n.517-13C>A)
n.900C>A
c.613-13C>A (n.613-13C>A)
 gnomAD v4
11g.62995833A>GCA2574853371SLC22A8c.886-14T>C (n.886-14T>C)
c.517-14T>C (n.517-14T>C)
n.899T>C
c.613-14T>C (n.613-14T>C)
11g.62995834G>ACA6059775SLC22A8c.886-15C>T (n.886-15C>T)
c.517-15C>T (n.517-15C>T)
n.898C>T
c.613-15C>T (n.613-15C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.62995834G>CCA6059776SLC22A8c.886-15C>G (n.886-15C>G)
c.517-15C>G (n.517-15C>G)
n.898C>G
c.613-15C>G (n.613-15C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.62995834G=CA1978012930SLC22A8c.886-15C= (n.886-15C=)
c.517-15C= (n.517-15C=)
n.898C=
c.613-15C= (n.613-15C=)
11g.62995834G>TCA2614035209SLC22A8c.886-15C>A (n.886-15C>A)
c.517-15C>A (n.517-15C>A)
n.898C>A
c.613-15C>A (n.613-15C>A)
 gnomAD v4
11g.62995838delCA2614035208SLC22A8c.886-15del (n.886-15del)
c.517-15del (n.517-15del)
n.898del
c.613-15del (n.613-15del)
 gnomAD v4
11g.62995835G>ACA1978012932SLC22A8c.886-16C>T (n.886-16C>T)
c.517-16C>T (n.517-16C>T)
n.897C>T
c.613-16C>T (n.613-16C>T)
 dbSNP
11g.62995835G>CCA599799162SLC22A8c.886-16C>G (n.886-16C>G)
c.517-16C>G (n.517-16C>G)
n.897C>G
c.613-16C>G (n.613-16C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.62995835G=CA1978012931SLC22A8c.886-16C= (n.886-16C=)
c.517-16C= (n.517-16C=)
n.897C=
c.613-16C= (n.613-16C=)
11g.62995835G>TCA2614035210SLC22A8c.886-16C>A (n.886-16C>A)
c.517-16C>A (n.517-16C>A)
n.897C>A
c.613-16C>A (n.613-16C>A)
 gnomAD v4
11g.62995836G>TCA2614035211SLC22A8c.886-17C>A (n.886-17C>A)
c.517-17C>A (n.517-17C>A)
n.896C>A
c.613-17C>A (n.613-17C>A)
 gnomAD v4
11g.62995837G>ACA6059777SLC22A8c.886-18C>T (n.886-18C>T)
c.517-18C>T (n.517-18C>T)
n.895C>T
c.613-18C>T (n.613-18C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.62995837G=CA1978012933SLC22A8c.886-18C= (n.886-18C=)
c.517-18C= (n.517-18C=)
n.895C=
c.613-18C= (n.613-18C=)
11g.62995837G>TCA2614035212SLC22A8c.886-18C>A (n.886-18C>A)
c.517-18C>A (n.517-18C>A)
n.895C>A
c.613-18C>A (n.613-18C>A)
 gnomAD v4
11g.62995838G>ACA223623592SLC22A8c.886-19C>T (n.886-19C>T)
c.517-19C>T (n.517-19C>T)
n.894C>T
c.613-19C>T (n.613-19C>T)
 dbSNP
11g.62995838G>CCA6059778SLC22A8c.886-19C>G (n.886-19C>G)
c.517-19C>G (n.517-19C>G)
n.894C>G
c.613-19C>G (n.613-19C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.62995838G=CA1978012934SLC22A8c.886-19C= (n.886-19C=)
c.517-19C= (n.517-19C=)
n.894C=
c.613-19C= (n.613-19C=)
11g.62995838G>TCA2614035213SLC22A8c.886-19C>A (n.886-19C>A)
c.517-19C>A (n.517-19C>A)
n.894C>A
c.613-19C>A (n.613-19C>A)
 gnomAD v4
11g.62995838_62995839delinsGACA1978012935SLC22A8c.886-20_886-19delinsTC (n.886-20_886-19delinsTC)
c.517-20_517-19delinsTC (n.517-20_517-19delinsTC)
n.893_894delinsTC
c.613-20_613-19delinsTC (n.613-20_613-19delinsTC)
11g.62995839delCA6059779SLC22A8c.886-20del (n.886-20del)
c.517-20del (n.517-20del)
n.893del
c.613-20del (n.613-20del)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.62995839A>GCA2574853372SLC22A8c.886-20T>C (n.886-20T>C)
c.517-20T>C (n.517-20T>C)
n.893T>C
c.613-20T>C (n.613-20T>C)
 gnomAD v4
11g.62995839A>TCA2614035214SLC22A8c.886-20T>A (n.886-20T>A)
c.517-20T>A (n.517-20T>A)
n.893T>A
c.613-20T>A (n.613-20T>A)
 gnomAD v4
11g.62995839_62995840delinsAGCA1978012936SLC22A8c.886-21_886-20delinsCT (n.886-21_886-20delinsCT)
c.517-21_517-20delinsCT (n.517-21_517-20delinsCT)
n.892_893delinsCT
c.613-21_613-20delinsCT (n.613-21_613-20delinsCT)
11g.62995840G>ACA6059780SLC22A8c.886-21C>T (n.886-21C>T)
c.517-21C>T (n.517-21C>T)
n.892C>T
c.613-21C>T (n.613-21C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.62995840G=CA1978012938SLC22A8c.886-21C= (n.886-21C=)
c.517-21C= (n.517-21C=)
n.892C=
c.613-21C= (n.613-21C=)
11g.62995840G>TCA2614035215SLC22A8c.886-21C>A (n.886-21C>A)
c.517-21C>A (n.517-21C>A)
n.892C>A
c.613-21C>A (n.613-21C>A)
 gnomAD v4
11g.62995843dupCA2574853373SLC22A8c.886-21dup (n.886-21dup)
c.517-21dup (n.517-21dup)
n.892dup
c.613-21dup (n.613-21dup)
 gnomAD v4
11g.62995843delCA1978012937SLC22A8c.886-21del (n.886-21del)
c.517-21del (n.517-21del)
n.892del
c.613-21del (n.613-21del)
 dbSNP
11g.62995841G>ACA2574853374SLC22A8c.886-22C>T (n.886-22C>T)
c.517-22C>T (n.517-22C>T)
n.891C>T
c.613-22C>T (n.613-22C>T)
11g.62995841G>TCA2614035216SLC22A8c.886-22C>A (n.886-22C>A)
c.517-22C>A (n.517-22C>A)
n.891C>A
c.613-22C>A (n.613-22C>A)
 gnomAD v4
11g.62995842G>ACA1978012940SLC22A8c.886-23C>T (n.886-23C>T)
c.517-23C>T (n.517-23C>T)
n.890C>T
c.613-23C>T (n.613-23C>T)
 dbSNP gnomAD v4
11g.62995842G=CA1978012939SLC22A8c.886-23C= (n.886-23C=)
c.517-23C= (n.517-23C=)
n.890C=
c.613-23C= (n.613-23C=)
11g.62995842G>TCA1978012942SLC22A8c.886-23C>A (n.886-23C>A)
c.517-23C>A (n.517-23C>A)
n.890C>A
c.613-23C>A (n.613-23C>A)
 dbSNP
11g.62995844T>ACA1978012945SLC22A8c.886-25A>T (n.886-25A>T)
c.517-25A>T (n.517-25A>T)
n.888A>T
c.613-25A>T (n.613-25A>T)
 dbSNP gnomAD v4
11g.62995844T>GCA1978012946SLC22A8c.886-25A>C (n.886-25A>C)
c.517-25A>C (n.517-25A>C)
n.888A>C
c.613-25A>C (n.613-25A>C)
 dbSNP
11g.62995844T=CA1978012943SLC22A8c.886-25A= (n.886-25A=)
c.517-25A= (n.517-25A=)
n.888A=
c.613-25A= (n.613-25A=)
11g.62995844_62995845delinsTGCA1978012947SLC22A8c.886-26_886-25delinsCA (n.886-26_886-25delinsCA)
c.517-26_517-25delinsCA (n.517-26_517-25delinsCA)
n.887_888delinsCA
c.613-26_613-25delinsCA (n.613-26_613-25delinsCA)
11g.62995845delCA1978012948SLC22A8c.886-26del (n.886-26del)
c.517-26del (n.517-26del)
n.887del
c.613-26del (n.613-26del)
 dbSNP
11g.62995845G>ACA1978012950SLC22A8c.886-26C>T (n.886-26C>T)
c.517-26C>T (n.517-26C>T)
n.887C>T
c.613-26C>T (n.613-26C>T)
 dbSNP gnomAD v4
11g.62995845G=CA1978012949SLC22A8c.886-26C= (n.886-26C=)
c.517-26C= (n.517-26C=)
n.887C=
c.613-26C= (n.613-26C=)
11g.62995845G>TCA2614035217SLC22A8c.886-26C>A (n.886-26C>A)
c.517-26C>A (n.517-26C>A)
n.887C>A
c.613-26C>A (n.613-26C>A)
 gnomAD v4
11g.62995846C=CA1978012952SLC22A8c.886-27G= (n.886-27G=)
c.517-27G= (n.517-27G=)
n.886G=
c.613-27G= (n.613-27G=)
11g.62995846C>TCA6059781SLC22A8c.886-27G>A (n.886-27G>A)
c.517-27G>A (n.517-27G>A)
n.886G>A
c.613-27G>A (n.613-27G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.62995847C=CA1978012955SLC22A8c.886-28G= (n.886-28G=)
c.517-28G= (n.517-28G=)
n.885G=
c.613-28G= (n.613-28G=)
11g.62995847C>TCA599799163SLC22A8c.886-28G>A (n.886-28G>A)
c.517-28G>A (n.517-28G>A)
n.885G>A
c.613-28G>A (n.613-28G>A)
 dbSNP gnomAD v2 gnomAD v4
11g.62995848A=CA1978012958SLC22A8c.886-29T= (n.886-29T=)
c.517-29T= (n.517-29T=)
n.884T=
c.613-29T= (n.613-29T=)
11g.62995848A>GCA599799164SLC22A8c.886-29T>C (n.886-29T>C)
c.517-29T>C (n.517-29T>C)
n.884T>C
c.613-29T>C (n.613-29T>C)
 dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched