E5RII9 · E5RII9_HUMAN

Variants

1675101520253035404550556065
MRLRFCISSQEYNINNAESFSASYPETYDVQGMFQLTNWTLTSEGRLDTTPVGDSFAQAVLPRQPPE
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
rs7770964813L>*TOPMed
gnomAD
COSV617892854R>Kcosmic curated
rs13418928584R>TTOPMed
gnomAD
rs20825993565F>LgnomAD
rs11621859057I>LgnomAD
rs12247004149S>NTOPMed
gnomAD
rs145794192910Q>*gnomAD
rs54626820612Y>*1000Genomes
TOPMed
gnomAD
COSV61790626
rs1356008424
12Y>Hcosmic curated
gnomAD
rs105317620412Y>SEnsembl
rs208255328413N>STOPMed
COSV6178952214I>Kcosmic curated
rs147709595619S>FTOPMed
gnomAD
rs147709595619S>YTOPMed
gnomAD
rs158877146020F>SgnomAD
rs119483673322A>VTOPMed
gnomAD
rs144859158123S>*TOPMed
rs13940134924Y>D1000Genomes
TOPMed
gnomAD
rs126550954325P>RgnomAD
COSV6178618225P>Scosmic curated
rs89818640626E>DTOPMed
rs37127464429D>N1000Genomes
TOPMed
gnomAD
rs135718041531Q>HgnomAD
rs208242476232G>RgnomAD
rs208241061833M>ITOPMed
gnomAD
rs90871148533M>VTOPMed
gnomAD
rs136511547834F>YTOPMed
rs7725830135Q>*1000Genomes
ExAC
TOPMed
gnomAD
rs77157887235Q>PExAC
gnomAD
COSV6179178036L>Fcosmic curated
rs55310005337T>S1000Genomes
TOPMed
gnomAD
rs139228108338N>KTOPMed
gnomAD
rs14690211538N>S1000Genomes
TOPMed
gnomAD
rs116783790739W>RgnomAD
rs76136446240T>IExAC
gnomAD
rs208232588545G>*Ensembl
rs77445055946R>LExAC
TOPMed
gnomAD
rs77445055946R>QExAC
TOPMed
gnomAD
rs141135000746R>WTOPMed
gnomAD
rs156379639648D>GEnsembl
rs76865210248D>HExAC
TOPMed
gnomAD
rs208229725049T>ATOPMed
rs57045969050T>A1000Genomes
ExAC
TOPMed
gnomAD
rs57045969050T>S1000Genomes
ExAC
TOPMed
gnomAD
rs145234226351P>LgnomAD
rs208226834752V>ATOPMed
rs125504045952V>IgnomAD
rs77574641253G>STOPMed
gnomAD
rs208225946153G>VEnsembl
rs215265397054D>VEnsembl
rs145730103655S>CTOPMed
gnomAD
rs125859960756F>VgnomAD
rs130658441457A>SgnomAD
COSV6178905158Q>Lcosmic curated
rs207825992059A>PTOPMed
rs137702253860V>ITOPMed
gnomAD
COSV10465304462P>Scosmic curated
rs144499215163R>CTOPMed
gnomAD
COSV100570063
rs887581924
63R>Hcosmic curated
TOPMed
gnomAD
rs166519839467E>QTOPMed
rs137761055768*>SgnomAD
rs115710917368*>YTOPMed
gnomAD
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