D6RBI9 · D6RBI9_HUMAN

Variants

1515101520253035404550
MTTSALRRQVKNIVHNYSEAEIKVREATSNDPWGPPSSLMSEIADLTFNTV
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
COSV52142870
rs528825208
2T>Kcosmic curated
ExAC
TOPMed
gnomAD
rs5288252082T>MExAC
TOPMed
gnomAD
rs7567349823T>IExAC
gnomAD
rs7567349823T>SExAC
gnomAD
rs14635861833T>S1000Genomes
gnomAD
rs20347652534S>PgnomAD
rs2020735455A>S1000Genomes
ExAC
TOPMed
gnomAD
rs2020735455A>T1000Genomes
ExAC
TOPMed
gnomAD
rs15978602315A>VEnsembl
rs20347654576L>PTOPMed
rs5570684447R>Q1000Genomes
ExAC
gnomAD
COSV52141953
rs746697052
7R>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
COSV108048690
rs556561218
8R>Ccosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
COSV52138116
rs747912399
8R>HVariant of uncertain significance (Ensembl)cosmic curated
ExAC
TOPMed
gnomAD
rs121133478811K>EgnomAD
rs125928172711K>NTOPMed
gnomAD
rs148214472712N>STOPMed
gnomAD
rs148214472712N>TTOPMed
gnomAD
rs203476577113I>TTOPMed
rs118156229413I>VTOPMed
gnomAD
rs94289541814V>ATOPMed
rs37063644314V>LESP
ExAC
TOPMed
gnomAD
COSV99277115
rs370636443
14V>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
cosmic curated
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs116675328015H>RgnomAD
rs139010788316N>HgnomAD
rs127452551817Y>CVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs143582444517Y>DgnomAD
rs127452551817Y>SVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs146583195118S>FgnomAD
rs77448663318S>PVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs77448663318S>TVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs76783454119E>KExAC
TOPMed
gnomAD
rs75313498620A>PExAC
gnomAD
rs75313498620A>TExAC
gnomAD
rs75650780923K>EExAC
TOPMed
gnomAD
rs136438659123K>NTOPMed
gnomAD
rs203476633024V>ATOPMed
rs76470406024V>MExAC
gnomAD
COSV52139195
rs753177479
25R>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
COSV52143211
rs139367693
25R>Hcosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs14963001826E>GVariant of uncertain significance (Ensembl)ESP
TOPMed
rs126156213826E>KTOPMed
gnomAD
rs118677189627A>TTOPMed
gnomAD
rs75467085227A>VExAC
TOPMed
gnomAD
rs140050382528T>SEnsembl
rs145476325130N>KTOPMed
gnomAD
rs75731551131D>GEnsembl
rs203476688932P>REnsembl
COSV52142679
rs1419987510
32P>Scosmic curated
TOPMed
gnomAD
rs74796603533W>*ExAC
TOPMed
gnomAD
rs74796603533W>CExAC
TOPMed
gnomAD
rs78076944633W>RExAC
TOPMed
gnomAD
rs76950880234G>AExAC
TOPMed
gnomAD
rs88716336634G>CTOPMed
gnomAD
rs138735677636P>AgnomAD
rs77087391337S>RExAC
gnomAD
COSV52139596
rs1365357138
38S>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
gnomAD
rs203476749039L>FEnsembl
rs77245510740M>TExAC
TOPMed
gnomAD
rs77579002341S>PExAC
TOPMed
gnomAD
rs14321063242E>KESP
ExAC
TOPMed
gnomAD
rs76226724944A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ExAC
TOPMed
dbSNP
gnomAD
rs203476783646L>PEnsembl
rs117815046448F>CTOPMed
gnomAD
rs117815046448F>STOPMed
gnomAD
rs203476799149N>TTOPMed
rs124161037950T>ATOPMed
gnomAD
rs203476809351V>LTOPMed
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