Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.47350534T>ACA376671980RBP3c.2050T>A (p.Ser684Thr)
10g.47350534T>CCA376671981RBP3c.2050T>C (p.Ser684Pro)
10g.47350534T>GCA376671982RBP3c.2050T>G (p.Ser684Ala)
10g.47350535C>ACA376671983RBP3c.2051C>A (p.Ser684Tyr)
10g.47350535C>GCA376671984RBP3c.2051C>G (p.Ser684Cys)
10g.47350535C>TCA376671985RBP3c.2051C>T (p.Ser684Phe)
10g.47350536T>ACA469782560RBP3c.2052T>A (p.Ser684=)
10g.47350536T>CCA469782561RBP3c.2052T>C (p.Ser684=)
10g.47350536T>GCA469782562RBP3c.2052T>G (p.Ser684=)
10g.47350536_47350543delinsTCAGCTCACA1907806602RBP3c.2052_2059delinsTCAGCTCA (p.Ser684=)
10g.47350537C>ACA206464197RBP3c.2053C>A (p.Gln685Lys)
10g.47350537C=CA1907806604RBP3c.2053C= (p.Gln685=)
10g.47350537C>GCA206464199RBP3c.2053C>G (p.Gln685Glu)
10g.47350537C>TCA376671986RBP3c.2053C>T (p.Gln685Ter)
dbSNP gnomAD v4
10g.47350541_47350547delCA1907806603RBP3c.2057_2063del (p.Leu686GlnfsTer13)
dbSNP
10g.47350538A>CCA376671987RBP3c.2054A>C (p.Gln685Pro)
10g.47350538A>GCA376671988RBP3c.2054A>G (p.Gln685Arg)
10g.47350538A>TCA376671989RBP3c.2054A>T (p.Gln685Leu)
10g.47350539G>ACA469782564RBP3c.2055G>A (p.Gln685=)
dbSNP gnomAD v2 gnomAD v4
10g.47350539G>CCA376671991RBP3c.2055G>C (p.Gln685His)
10g.47350539G=CA1907806606RBP3c.2055G= (p.Gln685=)
10g.47350539G>TCA376671990RBP3c.2055G>T (p.Gln685His)
gnomAD v4
10g.47350540C>ACA376671992RBP3c.2056C>A (p.Leu686Ile)
10g.47350540C=CA1907806608RBP3c.2056C= (p.Leu686=)
10g.47350540C>GCA376671993RBP3c.2056C>G (p.Leu686Val)
10g.47350540C>TCA376671994RBP3c.2056C>T (p.Leu686Phe)
dbSNP gnomAD v4
10g.47350541T>ACA376671995RBP3c.2057T>A (p.Leu686His)
10g.47350541T>CCA376671996RBP3c.2057T>C (p.Leu686Pro)
10g.47350541T>GCA376671997RBP3c.2057T>G (p.Leu686Arg)
10g.47350541_47350549delCA2609024852RBP3c.2057_2065del (p.Leu686_Asp689delinsHis)
gnomAD v4
10g.47350542C>ACA469782570RBP3c.2058C>A (p.Leu686=)
10g.47350542C>GCA469782569RBP3c.2058C>G (p.Leu686=)
10g.47350542C>TCA469782568RBP3c.2058C>T (p.Leu686=)
10g.47350543A=CA1907806610RBP3c.2059A= (p.Thr687=)
10g.47350543A>CCA206464201RBP3c.2059A>C (p.Thr687Pro)
gnomAD v4
10g.47350543A>GCA5487370RBP3c.2059A>G (p.Thr687Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.47350543A>TCA206464204RBP3c.2059A>T (p.Thr687Ser)
10g.47350544C>ACA376671998RBP3c.2060C>A (p.Thr687Lys)
10g.47350544C>GCA376671999RBP3c.2060C>G (p.Thr687Arg)
10g.47350544C>TCA376672000RBP3c.2060C>T (p.Thr687Ile)
10g.47350545A>CCA469782574RBP3c.2061A>C (p.Thr687=)
10g.47350545A>GCA469782575RBP3c.2061A>G (p.Thr687=)
10g.47350545A>TCA469782576RBP3c.2061A>T (p.Thr687=)
10g.47350546G>ACA376672002RBP3c.2062G>A (p.Ala688Thr)
10g.47350546G>CCA376672003RBP3c.2062G>C (p.Ala688Pro)
10g.47350546G>TCA376672001RBP3c.2062G>T (p.Ala688Ser)
10g.47350547C>ACA376672004RBP3c.2063C>A (p.Ala688Glu)
10g.47350547C=CA1907806613RBP3c.2063C= (p.Ala688=)
10g.47350547C>GCA376672005RBP3c.2063C>G (p.Ala688Gly)
10g.47350547C>TCA350973RBP3c.2063C>T (p.Ala688Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350548A>CCA469782581RBP3c.2064A>C (p.Ala688=)
10g.47350548A>GCA469782582RBP3c.2064A>G (p.Ala688=)
10g.47350548A>TCA469782583RBP3c.2064A>T (p.Ala688=)
10g.47350549G>ACA376672006RBP3c.2065G>A (p.Asp689Asn)
gnomAD v4
10g.47350549G>CCA376672007RBP3c.2065G>C (p.Asp689His)
10g.47350549G=CA1907806615RBP3c.2065G= (p.Asp689=)
10g.47350549G>TCA376672008RBP3c.2065G>T (p.Asp689Tyr)
dbSNP
10g.47350550A=CA1907806616RBP3c.2066A= (p.Asp689=)
10g.47350550A>CCA376672009RBP3c.2066A>C (p.Asp689Ala)
gnomAD v4
10g.47350550A>GCA376672011RBP3c.2066A>G (p.Asp689Gly)
dbSNP
10g.47350550A>TCA376672010RBP3c.2066A>T (p.Asp689Val)
10g.47350550_47350551insTGCA2609024853RBP3c.2066_2067insTG (p.Leu690AlafsTer12)
gnomAD v4
10g.47350551C>ACA376672012RBP3c.2067C>A (p.Asp689Glu)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.47350551C=CA1907806620RBP3c.2067C= (p.Asp689=)
10g.47350551C>GCA376672013RBP3c.2067C>G (p.Asp689Glu)
dbSNP gnomAD v2 gnomAD v4
10g.47350551C>TCA469782584RBP3c.2067C>T (p.Asp689=)
10g.47350552C>ACA376672014RBP3c.2068C>A (p.Leu690Ile)
10g.47350552C>GCA376672015RBP3c.2068C>G (p.Leu690Val)
10g.47350552C>TCA376672016RBP3c.2068C>T (p.Leu690Phe)
10g.47350553T>ACA376672018RBP3c.2069T>A (p.Leu690His)
10g.47350553T>CCA376672019RBP3c.2069T>C (p.Leu690Pro)
10g.47350553T>GCA376672017RBP3c.2069T>G (p.Leu690Arg)
10g.47350554C>ACA469782100RBP3c.2070C>A (p.Leu690=)
10g.47350554C>GCA469782098RBP3c.2070C>G (p.Leu690=)
10g.47350554C>TCA469782099RBP3c.2070C>T (p.Leu690=)
10g.47350555C>ACA376672021RBP3c.2071C>A (p.Gln691Lys)
10g.47350555C>GCA376672020RBP3c.2071C>G (p.Gln691Glu)
10g.47350555C>TCA376672022RBP3c.2071C>T (p.Gln691Ter)
10g.47350556A>CCA376672023RBP3c.2072A>C (p.Gln691Pro)
10g.47350556A>GCA376672024RBP3c.2072A>G (p.Gln691Arg)
10g.47350556A>TCA376672025RBP3c.2072A>T (p.Gln691Leu)
10g.47350557G>ACA469782109RBP3c.2073G>A (p.Gln691=)
10g.47350557G>CCA376672026RBP3c.2073G>C (p.Gln691His)
10g.47350557G>TCA376672027RBP3c.2073G>T (p.Gln691His)
10g.47350558G>ACA5487369RBP3c.2074G>A (p.Glu692Lys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350558G>CCA206464209RBP3c.2074G>C (p.Glu692Gln)
10g.47350558G=CA1907806622RBP3c.2074G= (p.Glu692=)
10g.47350558G>TCA206464210RBP3c.2074G>T (p.Glu692Ter)
ClinVar dbSNP gnomAD v4
10g.47350559A=CA1907806625RBP3c.2075A= (p.Glu692=)
10g.47350559A>CCA206464211RBP3c.2075A>C (p.Glu692Ala)
10g.47350559A>GCA5487368RBP3c.2075A>G (p.Glu692Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.47350559A>TCA206464212RBP3c.2075A>T (p.Glu692Val)
10g.47350560G>ACA469782117RBP3c.2076G>A (p.Glu692=)
dbSNP gnomAD v3 gnomAD v4
10g.47350560G>CCA206464215RBP3c.2076G>C (p.Glu692Asp)
10g.47350560G=CA1907806627RBP3c.2076G= (p.Glu692=)
10g.47350560G>TCA206464233RBP3c.2076G>T (p.Glu692Asp)
gnomAD v4
10g.47350561G>ACA350894RBP3c.2077G>A (p.Val693Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350561G>CCA376672028RBP3c.2077G>C (p.Val693Leu)
dbSNP
10g.47350561G=CA1907806632RBP3c.2077G= (p.Val693=)
10g.47350561G>TCA376672029RBP3c.2077G>T (p.Val693Leu)
dbSNP gnomAD v2
10g.47350562T>ACA376672030RBP3c.2078T>A (p.Val693Glu)
10g.47350562T>CCA376672031RBP3c.2078T>C (p.Val693Ala)
10g.47350562T>GCA376672032RBP3c.2078T>G (p.Val693Gly)
10g.47350563G>ACA469782123RBP3c.2079G>A (p.Val693=)
10g.47350563G>CCA469782124RBP3c.2079G>C (p.Val693=)
dbSNP
10g.47350563G>TCA469782125RBP3c.2079G>T (p.Val693=)
dbSNP
10g.47350564T>ACA376672033RBP3c.2080T>A (p.Ser694Thr)
10g.47350564T>CCA376672034RBP3c.2080T>C (p.Ser694Pro)
dbSNP
10g.47350564T>GCA376672035RBP3c.2080T>G (p.Ser694Ala)
10g.47350565C>ACA376672036RBP3c.2081C>A (p.Ser694Tyr)
10g.47350565C>GCA376672037RBP3c.2081C>G (p.Ser694Cys)
10g.47350565C>TCA376672038RBP3c.2081C>T (p.Ser694Phe)
10g.47350566T>ACA469782141RBP3c.2082T>A (p.Ser694=)
10g.47350566T>CCA469782143RBP3c.2082T>C (p.Ser694=)
10g.47350566T>GCA469782146RBP3c.2082T>G (p.Ser694=)
10g.47350567G>ACA376672040RBP3c.2083G>A (p.Gly695Arg)
10g.47350567G>CCA376672041RBP3c.2083G>C (p.Gly695Arg)
10g.47350567G>TCA376672039RBP3c.2083G>T (p.Gly695Trp)
10g.47350570delCA2573145151RBP3c.2086del (p.Asp696ThrfsTer5)
ClinVar dbSNP gnomAD v4
10g.47350568G>ACA5487367RBP3c.2084G>A (p.Gly695Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.47350568G>CCA206464241RBP3c.2084G>C (p.Gly695Ala)
10g.47350568G=CA1907806637RBP3c.2084G= (p.Gly695=)
10g.47350568G>TCA206464253RBP3c.2084G>T (p.Gly695Val)
10g.47350569G>ACA469782163RBP3c.2085G>A (p.Gly695=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.47350569G>CCA469782164RBP3c.2085G>C (p.Gly695=)
gnomAD v4
10g.47350569G=CA1907806639RBP3c.2085G= (p.Gly695=)
10g.47350569G>TCA469782161RBP3c.2085G>T (p.Gly695=)
10g.47350570G>ACA376672042RBP3c.2086G>A (p.Asp696Asn)
gnomAD v4
10g.47350570G>CCA376672043RBP3c.2086G>C (p.Asp696His)
10g.47350570G>TCA376672044RBP3c.2086G>T (p.Asp696Tyr)
10g.47350571A>CCA376672045RBP3c.2087A>C (p.Asp696Ala)
10g.47350571A>GCA376672046RBP3c.2087A>G (p.Asp696Gly)
10g.47350571A>TCA376672047RBP3c.2087A>T (p.Asp696Val)
10g.47350572C>ACA376672048RBP3c.2088C>A (p.Asp696Glu)
gnomAD v3 gnomAD v4
10g.47350572C=CA1907806641RBP3c.2088C= (p.Asp696=)
10g.47350572C>GCA376672049RBP3c.2088C>G (p.Asp696Glu)
10g.47350572C>TCA5487366RBP3c.2088C>T (p.Asp696=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350573C>ACA376672051RBP3c.2089C>A (p.His697Asn)
10g.47350573C=CA1907806643RBP3c.2089C= (p.His697=)
10g.47350573C>GCA376672052RBP3c.2089C>G (p.His697Asp)
10g.47350573C>TCA376672050RBP3c.2089C>T (p.His697Tyr)
dbSNP gnomAD v4
10g.47350574A>CCA376672053RBP3c.2090A>C (p.His697Pro)
10g.47350574A>GCA376672054RBP3c.2090A>G (p.His697Arg)
dbSNP
10g.47350574A>TCA376672055RBP3c.2090A>T (p.His697Leu)
dbSNP
10g.47350575C>ACA376672056RBP3c.2091C>A (p.His697Gln)
10g.47350575C>GCA376672057RBP3c.2091C>G (p.His697Gln)
10g.47350575C>TCA469782196RBP3c.2091C>T (p.His697=)
gnomAD v4
10g.47350576C>ACA206464273RBP3c.2092C>A (p.Arg698Ser)
10g.47350576C=CA1907806646RBP3c.2092C= (p.Arg698=)
10g.47350576C>GCA5487365RBP3c.2092C>G (p.Arg698Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.47350576C>TCA5487364RBP3c.2092C>T (p.Arg698Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350577G>ACA376672058RBP3c.2093G>A (p.Arg698His)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.47350577G>CCA376672059RBP3c.2093G>C (p.Arg698Pro)
10g.47350577G=CA1907806650RBP3c.2093G= (p.Arg698=)
10g.47350577G>TCA376672060RBP3c.2093G>T (p.Arg698Leu)
10g.47350578C>ACA469782199RBP3c.2094C>A (p.Arg698=)
10g.47350578C>GCA469782200RBP3c.2094C>G (p.Arg698=)
10g.47350578C>TCA469782203RBP3c.2094C>T (p.Arg698=)
gnomAD v4
10g.47350579T>ACA376672061RBP3c.2095T>A (p.Leu699Met)
10g.47350579T>CCA5487362RBP3c.2095T>C (p.Leu699=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350579T>GCA5487363RBP3c.2095T>G (p.Leu699Val)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.47350579T=CA1907806655RBP3c.2095T= (p.Leu699=)
10g.47350580T>ACA376672063RBP3c.2096T>A (p.Leu699Ter)
10g.47350580T>CCA376672064RBP3c.2096T>C (p.Leu699Ser)
10g.47350580T>GCA376672062RBP3c.2096T>G (p.Leu699Trp)
10g.47350581G>ACA469782211RBP3c.2097G>A (p.Leu699=)
dbSNP gnomAD v4
10g.47350581G>CCA376672066RBP3c.2097G>C (p.Leu699Phe)
dbSNP
10g.47350581G=CA1907806662RBP3c.2097G= (p.Leu699=)
10g.47350581G>TCA376672065RBP3c.2097G>T (p.Leu699Phe)
gnomAD v4
10g.47350582C>ACA376672067RBP3c.2098C>A (p.Leu700Ile)
10g.47350582C=CA1907806668RBP3c.2098C= (p.Leu700=)
10g.47350582C>GCA5487361RBP3c.2098C>G (p.Leu700Val)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.47350582C>TCA469782213RBP3c.2098C>T (p.Leu700=)
10g.47350583T>ACA376672068RBP3c.2099T>A (p.Leu700Gln)
10g.47350583T>CCA376672069RBP3c.2099T>C (p.Leu700Pro)
10g.47350583T>GCA376672070RBP3c.2099T>G (p.Leu700Arg)
10g.47350584A>CCA469782228RBP3c.2100A>C (p.Leu700=)
10g.47350584A>GCA469782227RBP3c.2100A>G (p.Leu700=)
10g.47350584A>TCA469782226RBP3c.2100A>T (p.Leu700=)
10g.47350585G>ACA5487359RBP3c.2101G>A (p.Val701Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350585G>CCA5487360RBP3c.2101G>C (p.Val701Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350585G=CA1907806673RBP3c.2101G= (p.Val701=)
10g.47350585G>TCA376672071RBP3c.2101G>T (p.Val701Leu)
10g.47350586T>ACA376672072RBP3c.2102T>A (p.Val701Glu)
10g.47350586T>CCA376672073RBP3c.2102T>C (p.Val701Ala)
10g.47350586T>GCA376672074RBP3c.2102T>G (p.Val701Gly)
10g.47350587G>ACA5487358RBP3c.2103G>A (p.Val701=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350587G>CCA376672075RBP3c.2103G>C (p.Val701=)
10g.47350587G=CA1907806676RBP3c.2103G= (p.Val701=)
10g.47350587G>TCA376672076RBP3c.2103G>T (p.Val701=)
10g.47350588T>ACA206464319RBP3c.2104T>A (p.Phe702Ile)
10g.47350588T>CCA5487357RBP3c.2104T>C (p.Phe702Leu)
dbSNP ExAC
10g.47350588T>GCA206464323RBP3c.2104T>G (p.Phe702Val)
10g.47350588T=CA1907806679RBP3c.2104T= (p.Phe702=)
10g.47350589T>ACA376672077RBP3c.2105T>A (p.Phe702Tyr)
10g.47350589T>CCA376672078RBP3c.2105T>C (p.Phe702Ser)
dbSNP
10g.47350589T>GCA376672079RBP3c.2105T>G (p.Phe702Cys)
10g.47350590C>ACA376672080RBP3c.2106C>A (p.Phe702Leu)
10g.47350590C>GCA376672081RBP3c.2106C>G (p.Phe702Leu)
10g.47350590C>TCA469782239RBP3c.2106C>T (p.Phe702=)
gnomAD v4
10g.47350591C>ACA376672082RBP3c.2107C>A (p.His703Asn)
10g.47350591C=CA1907806683RBP3c.2107C= (p.His703=)
10g.47350591C>GCA376672083RBP3c.2107C>G (p.His703Asp)
10g.47350591C>TCA206464346RBP3c.2107C>T (p.His703Tyr)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.47350592A>CCA376672084RBP3c.2108A>C (p.His703Pro)
10g.47350592A>GCA376672085RBP3c.2108A>G (p.His703Arg)
10g.47350592A>TCA376672086RBP3c.2108A>T (p.His703Leu)
10g.47350593C>ACA376672088RBP3c.2109C>A (p.His703Gln)
10g.47350593C>GCA376672087RBP3c.2109C>G (p.His703Gln)
10g.47350593C>TCA469782244RBP3c.2109C>T (p.His703=)
gnomAD v4
10g.47350594A>CCA376672089RBP3c.2110A>C (p.Ser704Arg)
10g.47350594A>GCA376672091RBP3c.2110A>G (p.Ser704Gly)
gnomAD v4
10g.47350594A>TCA376672090RBP3c.2110A>T (p.Ser704Cys)
10g.47350595G>ACA376672092RBP3c.2111G>A (p.Ser704Asn)
dbSNP gnomAD v2 gnomAD v4
10g.47350595G>CCA376672093RBP3c.2111G>C (p.Ser704Thr)
10g.47350595G=CA1907806686RBP3c.2111G= (p.Ser704=)
10g.47350595G>TCA376672094RBP3c.2111G>T (p.Ser704Ile)
10g.47350596C>ACA376672095RBP3c.2112C>A (p.Ser704Arg)
dbSNP gnomAD v4
10g.47350596C=CA1907806689RBP3c.2112C= (p.Ser704=)
10g.47350596C>GCA376672096RBP3c.2112C>G (p.Ser704Arg)
10g.47350596C>TCA469782257RBP3c.2112C>T (p.Ser704=)
dbSNP gnomAD v3 gnomAD v4
10g.47350597C>ACA206464355RBP3c.2113C>A (p.Pro705Thr)
10g.47350597C=CA1907806694RBP3c.2113C= (p.Pro705=)
10g.47350597C>GCA206464357RBP3c.2113C>G (p.Pro705Ala)
10g.47350597C>TCA5487356RBP3c.2113C>T (p.Pro705Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350598C>ACA376672097RBP3c.2114C>A (p.Pro705His)
10g.47350598C>GCA376672098RBP3c.2114C>G (p.Pro705Arg)
10g.47350598C>TCA376672099RBP3c.2114C>T (p.Pro705Leu)
gnomAD v4
10g.47350599T>ACA469782262RBP3c.2115T>A (p.Pro705=)
10g.47350599T>CCA469782263RBP3c.2115T>C (p.Pro705=)
dbSNP gnomAD v3 gnomAD v4
10g.47350599T>GCA469782264RBP3c.2115T>G (p.Pro705=)
10g.47350599T=CA1907806697RBP3c.2115T= (p.Pro705=)
10g.47350600G>ACA376672102RBP3c.2116G>A (p.Gly706Ser)
10g.47350600G>CCA376672101RBP3c.2116G>C (p.Gly706Arg)
10g.47350600G>TCA376672100RBP3c.2116G>T (p.Gly706Cys)
10g.47350601G>ACA5487355RBP3c.2117G>A (p.Gly706Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350601G>CCA206464359RBP3c.2117G>C (p.Gly706Ala)
10g.47350601G=CA1907806699RBP3c.2117G= (p.Gly706=)
10g.47350601G>TCA206464362RBP3c.2117G>T (p.Gly706Val)
10g.47350602C>ACA5487354RBP3c.2118C>A (p.Gly706=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.47350602C=CA1907806705RBP3c.2118C= (p.Gly706=)
10g.47350602C>GCA376672103RBP3c.2118C>G (p.Gly706=)
ClinVar dbSNP gnomAD v4
10g.47350602C>TCA5487353RBP3c.2118C>T (p.Gly706=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350603G>ACA5487352RBP3c.2119G>A (p.Glu707Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.47350603G>CCA206464373RBP3c.2119G>C (p.Glu707Gln)
10g.47350603G=CA1907806712RBP3c.2119G= (p.Glu707=)
10g.47350603G>TCA206464386RBP3c.2119G>T (p.Glu707Ter)
10g.47350604A>CCA376672104RBP3c.2120A>C (p.Glu707Ala)
10g.47350604A>GCA376672105RBP3c.2120A>G (p.Glu707Gly)
10g.47350604A>TCA376672106RBP3c.2120A>T (p.Glu707Val)
10g.47350605G>ACA10631719RBP3c.2121G>A (p.Glu707=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.47350605G>CCA376672107RBP3c.2121G>C (p.Glu707Asp)
10g.47350605G=CA1907806714RBP3c.2121G= (p.Glu707=)
10g.47350605G>TCA376672108RBP3c.2121G>T (p.Glu707Asp)
10g.47350606C>ACA376672109RBP3c.2122C>A (p.Leu708Met)
10g.47350606C>GCA376672110RBP3c.2122C>G (p.Leu708Val)
10g.47350606C>TCA469782289RBP3c.2122C>T (p.Leu708=)
10g.47350607T>ACA376672111RBP3c.2123T>A (p.Leu708Gln)
10g.47350607T>CCA376672113RBP3c.2123T>C (p.Leu708Pro)
10g.47350607T>GCA376672112RBP3c.2123T>G (p.Leu708Arg)
10g.47350608G>ACA469782298RBP3c.2124G>A (p.Leu708=)
ClinVar dbSNP
10g.47350608G>CCA469782297RBP3c.2124G>C (p.Leu708=)
10g.47350608G>TCA469782295RBP3c.2124G>T (p.Leu708=)
10g.47350609G>ACA376672114RBP3c.2125G>A (p.Val709Met)
10g.47350609G>CCA376672115RBP3c.2125G>C (p.Val709Leu)
10g.47350609G=CA1907806719RBP3c.2125G= (p.Val709=)
10g.47350609G>TCA5487351RBP3c.2125G>T (p.Val709Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350610T>ACA376672116RBP3c.2126T>A (p.Val709Glu)
10g.47350610T>CCA376672117RBP3c.2126T>C (p.Val709Ala)
10g.47350610T>GCA376672118RBP3c.2126T>G (p.Val709Gly)
10g.47350611G>ACA469782304RBP3c.2127G>A (p.Val709=)
gnomAD v4
10g.47350611G>CCA469782305RBP3c.2127G>C (p.Val709=)
10g.47350611G>TCA469782306RBP3c.2127G>T (p.Val709=)
10g.47350612G>ACA206464398RBP3c.2128G>A (p.Val710Ile)
dbSNP gnomAD v3 gnomAD v4
10g.47350612G>CCA376672120RBP3c.2128G>C (p.Val710Leu)
10g.47350612G=CA1907806724RBP3c.2128G= (p.Val710=)
10g.47350612G>TCA376672119RBP3c.2128G>T (p.Val710Leu)
10g.47350613T>ACA5487349RBP3c.2129T>A (p.Val710Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.47350613T>CCA5487350RBP3c.2129T>C (p.Val710Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350613T>GCA206464421RBP3c.2129T>G (p.Val710Gly)
10g.47350613T=CA1907806729RBP3c.2129T= (p.Val710=)
10g.47350614A>CCA469782308RBP3c.2130A>C (p.Val710=)
10g.47350614A>GCA469782309RBP3c.2130A>G (p.Val710=)
10g.47350614A>TCA469782311RBP3c.2130A>T (p.Val710=)
10g.47350615G>ACA376672121RBP3c.2131G>A (p.Glu711Lys)
10g.47350615G>CCA376672122RBP3c.2131G>C (p.Glu711Gln)
10g.47350615G>TCA376672123RBP3c.2131G>T (p.Glu711Ter)
10g.47350616A=CA1907806731RBP3c.2132A= (p.Glu711=)
10g.47350616A>CCA376672126RBP3c.2132A>C (p.Glu711Ala)
10g.47350616A>GCA376672124RBP3c.2132A>G (p.Glu711Gly)
dbSNP
10g.47350616A>TCA376672125RBP3c.2132A>T (p.Glu711Val)
10g.47350617G>ACA469782318RBP3c.2133G>A (p.Glu711=)
gnomAD v4
10g.47350617G>CCA376672127RBP3c.2133G>C (p.Glu711Asp)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.47350617G=CA1907806735RBP3c.2133G= (p.Glu711=)
10g.47350617G>TCA376672128RBP3c.2133G>T (p.Glu711Asp)
10g.47350618G>ACA376672129RBP3c.2134G>A (p.Glu712Lys)
dbSNP
10g.47350618G>CCA376672130RBP3c.2134G>C (p.Glu712Gln)
10g.47350618G=CA1907806739RBP3c.2134G= (p.Glu712=)
10g.47350618G>TCA376672131RBP3c.2134G>T (p.Glu712Ter)
10g.47350619A>CCA376672132RBP3c.2135A>C (p.Glu712Ala)
10g.47350619A>GCA376672133RBP3c.2135A>G (p.Glu712Gly)
10g.47350619A>TCA376672134RBP3c.2135A>T (p.Glu712Val)
10g.47350620A>CCA376672135RBP3c.2136A>C (p.Glu712Asp)
10g.47350620A>GCA469782331RBP3c.2136A>G (p.Glu712=)
10g.47350620A>TCA376672136RBP3c.2136A>T (p.Glu712Asp)
10g.47350621G>ACA376672137RBP3c.2137G>A (p.Ala713Thr)
dbSNP gnomAD v2
10g.47350621G>CCA5487348RBP3c.2137G>C (p.Ala713Pro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350621G=CA1907806746RBP3c.2137G= (p.Ala713=)
10g.47350621G>TCA376672138RBP3c.2137G>T (p.Ala713Ser)
ClinVar dbSNP
10g.47350622C>ACA376672139RBP3c.2138C>A (p.Ala713Glu)
dbSNP gnomAD v2 gnomAD v4
10g.47350622C=CA1907806750RBP3c.2138C= (p.Ala713=)
10g.47350622C>GCA376672141RBP3c.2138C>G (p.Ala713Gly)
10g.47350622C>TCA376672140RBP3c.2138C>T (p.Ala713Val)
10g.47350623A>CCA469782339RBP3c.2139A>C (p.Ala713=)
dbSNP gnomAD v4
10g.47350623A>GCA469782340RBP3c.2139A>G (p.Ala713=)
dbSNP
10g.47350623A>TCA469782341RBP3c.2139A>T (p.Ala713=)
dbSNP
10g.47350624C>ACA376672142RBP3c.2140C>A (p.Pro714Thr)
gnomAD v4
10g.47350624C=CA1907806754RBP3c.2140C= (p.Pro714=)
10g.47350624C>GCA5487347RBP3c.2140C>G (p.Pro714Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.47350624C>TCA376672143RBP3c.2140C>T (p.Pro714Ser)
ClinVar dbSNP
10g.47350625C>ACA376672144RBP3c.2141C>A (p.Pro714His)
10g.47350625C>GCA376672145RBP3c.2141C>G (p.Pro714Arg)
10g.47350625C>TCA376672146RBP3c.2141C>T (p.Pro714Leu)
gnomAD v4
10g.47350626C>ACA469782360RBP3c.2142C>A (p.Pro714=)
10g.47350626C=CA1907806756RBP3c.2142C= (p.Pro714=)
10g.47350626C>GCA469782363RBP3c.2142C>G (p.Pro714=)
10g.47350626C>TCA469782366RBP3c.2142C>T (p.Pro714=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.47350627C>ACA376672147RBP3c.2143C>A (p.Pro715Thr)
10g.47350627C=CA1907806758RBP3c.2143C= (p.Pro715=)
10g.47350627C>GCA376672148RBP3c.2143C>G (p.Pro715Ala)
10g.47350627C>TCA376672149RBP3c.2143C>T (p.Pro715Ser)
dbSNP gnomAD v3 gnomAD v4
10g.47350628C>ACA376672152RBP3c.2144C>A (p.Pro715Gln)
dbSNP gnomAD v4
10g.47350628C=CA1907806762RBP3c.2144C= (p.Pro715=)
10g.47350628C>GCA376672154RBP3c.2144C>G (p.Pro715Arg)
10g.47350628C>TCA376672156RBP3c.2144C>T (p.Pro715Leu)
dbSNP gnomAD v3 gnomAD v4
10g.47350629A>CCA469782368RBP3c.2145A>C (p.Pro715=)
dbSNP gnomAD v3 gnomAD v4
10g.47350629A>GCA469782369RBP3c.2145A>G (p.Pro715=)
ClinVar dbSNP
10g.47350629A>TCA469782370RBP3c.2145A>T (p.Pro715=)
10g.47350630C>ACA376672163RBP3c.2146C>A (p.Pro716Thr)
gnomAD v4
10g.47350630C>GCA376672161RBP3c.2146C>G (p.Pro716Ala)
10g.47350630C>TCA376672159RBP3c.2146C>T (p.Pro716Ser)
10g.47350631C>ACA376672165RBP3c.2147C>A (p.Pro716Gln)
gnomAD v4
10g.47350631C>GCA376672167RBP3c.2147C>G (p.Pro716Arg)
10g.47350631C>TCA376672169RBP3c.2147C>T (p.Pro716Leu)
gnomAD v4
10g.47350632A>CCA469782388RBP3c.2148A>C (p.Pro716=)
dbSNP gnomAD v3 gnomAD v4
10g.47350632A>GCA469782392RBP3c.2148A>G (p.Pro716=)
10g.47350632A>TCA469782393RBP3c.2148A>T (p.Pro716=)
10g.47350633C>ACA206464460RBP3c.2149C>A (p.Pro717Thr)
10g.47350633C=CA1907806766RBP3c.2149C= (p.Pro717=)
10g.47350633C>GCA206464466RBP3c.2149C>G (p.Pro717Ala)
10g.47350633C>TCA5487346RBP3c.2149C>T (p.Pro717Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.47350637delCA2609024854RBP3c.2153del (p.Pro718LeufsTer?)
gnomAD v4
10g.47350634C>ACA376672175RBP3c.2150C>A (p.Pro717His)
10g.47350634C=CA1907806769RBP3c.2150C= (p.Pro717=)
10g.47350634C>GCA376672178RBP3c.2150C>G (p.Pro717Arg)
dbSNP
10g.47350634C>TCA376672180RBP3c.2150C>T (p.Pro717Leu)
gnomAD v4

Number of alleles fetched