Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.47350444C>ACA376671808RBP3c.1960C>A (p.Pro654Thr)
10g.47350444C=CA1907806510RBP3c.1960C= (p.Pro654=)
10g.47350444C>GCA376671809RBP3c.1960C>G (p.Pro654Ala)
10g.47350444C>TCA376671810RBP3c.1960C>T (p.Pro654Ser)
dbSNP gnomAD v2 gnomAD v4
10g.47350445C>ACA376671813RBP3c.1961C>A (p.Pro654Gln)
dbSNP gnomAD v3 gnomAD v4
10g.47350445C=CA1907806512RBP3c.1961C= (p.Pro654=)
10g.47350445C>GCA376671812RBP3c.1961C>G (p.Pro654Arg)
10g.47350445C>TCA376671811RBP3c.1961C>T (p.Pro654Leu)
10g.47350446A>CCA469782342RBP3c.1962A>C (p.Pro654=)
10g.47350446A>GCA469782344RBP3c.1962A>G (p.Pro654=)
10g.47350446A>TCA469782346RBP3c.1962A>T (p.Pro654=)
10g.47350447G>ACA376671814RBP3c.1963G>A (p.Glu655Lys)
10g.47350447G>CCA376671815RBP3c.1963G>C (p.Glu655Gln)
10g.47350447G>TCA376671816RBP3c.1963G>T (p.Glu655Ter)
10g.47350448A>CCA376671817RBP3c.1964A>C (p.Glu655Ala)
10g.47350448A>GCA376671818RBP3c.1964A>G (p.Glu655Gly)
10g.47350448A>TCA376671819RBP3c.1964A>T (p.Glu655Val)
10g.47350449G>ACA469782355RBP3c.1965G>A (p.Glu655=)
gnomAD v4
10g.47350449G>CCA5487386RBP3c.1965G>C (p.Glu655Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.47350449G=CA1907806514RBP3c.1965G= (p.Glu655=)
10g.47350449G>TCA376671820RBP3c.1965G>T (p.Glu655Asp)
10g.47350450G>ACA376671821RBP3c.1966G>A (p.Val656Ile)
10g.47350450G>CCA376671822RBP3c.1966G>C (p.Val656Leu)
10g.47350450G>TCA376671823RBP3c.1966G>T (p.Val656Phe)
10g.47350451T>ACA376671825RBP3c.1967T>A (p.Val656Asp)
gnomAD v4
10g.47350451T>CCA376671826RBP3c.1967T>C (p.Val656Ala)
dbSNP gnomAD v3 gnomAD v4
10g.47350451T>GCA376671824RBP3c.1967T>G (p.Val656Gly)
10g.47350451T=CA1907806516RBP3c.1967T= (p.Val656=)
10g.47350452C>ACA206464109RBP3c.1968C>A (p.Val656=)
gnomAD v4
10g.47350452C=CA1907806519RBP3c.1968C= (p.Val656=)
10g.47350452C>GCA206464108RBP3c.1968C>G (p.Val656=)
dbSNP gnomAD v4
10g.47350452C>TCA5487385RBP3c.1968C>T (p.Val656=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350453G>ACA5487384RBP3c.1969G>A (p.Val657Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350453G>CCA376671827RBP3c.1969G>C (p.Val657Leu)
10g.47350453G=CA1907806522RBP3c.1969G= (p.Val657=)
10g.47350453G>TCA376671828RBP3c.1969G>T (p.Val657Leu)
dbSNP gnomAD v2 gnomAD v4
10g.47350454T>ACA376671829RBP3c.1970T>A (p.Val657Glu)
10g.47350454T>CCA376671830RBP3c.1970T>C (p.Val657Ala)
dbSNP gnomAD v2 gnomAD v4
10g.47350454T>GCA376671831RBP3c.1970T>G (p.Val657Gly)
10g.47350454T=CA1907806525RBP3c.1970T= (p.Val657=)
10g.47350455G>ACA469782382RBP3c.1971G>A (p.Val657=)
dbSNP gnomAD v4
10g.47350455G>CCA469782384RBP3c.1971G>C (p.Val657=)
10g.47350455G=CA1907806528RBP3c.1971G= (p.Val657=)
10g.47350455G>TCA469782386RBP3c.1971G>T (p.Val657=)
10g.47350458dupCA593487654RBP3c.1974dup (p.Gln659AlafsTer?)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.47350458delCA2609024850RBP3c.1974del (p.Gln659ArgfsTer?)
gnomAD v4
10g.47350456G>ACA376671832RBP3c.1972G>A (p.Gly658Arg)
gnomAD v4
10g.47350456G>CCA376671833RBP3c.1972G>C (p.Gly658Arg)
10g.47350456G>TCA376671834RBP3c.1972G>T (p.Gly658Trp)
10g.47350457G>ACA376671836RBP3c.1973G>A (p.Gly658Glu)
dbSNP
10g.47350457G>CCA376671837RBP3c.1973G>C (p.Gly658Ala)
10g.47350457G=CA1907806529RBP3c.1973G= (p.Gly658=)
10g.47350457G>TCA376671835RBP3c.1973G>T (p.Gly658Val)
10g.47350458G>ACA469782394RBP3c.1974G>A (p.Gly658=)
10g.47350458G>CCA469782395RBP3c.1974G>C (p.Gly658=)
10g.47350458G>TCA469782396RBP3c.1974G>T (p.Gly658=)
10g.47350459C>ACA376671838RBP3c.1975C>A (p.Gln659Lys)
gnomAD v4
10g.47350459C>GCA376671839RBP3c.1975C>G (p.Gln659Glu)
10g.47350459C>TCA376671840RBP3c.1975C>T (p.Gln659Ter)
10g.47350460A>CCA376671841RBP3c.1976A>C (p.Gln659Pro)
10g.47350460A>GCA376671842RBP3c.1976A>G (p.Gln659Arg)
10g.47350460A>TCA376671843RBP3c.1976A>T (p.Gln659Leu)
gnomAD v4
10g.47350461G>ACA469782408RBP3c.1977G>A (p.Gln659=)
10g.47350461G>CCA376671844RBP3c.1977G>C (p.Gln659His)
10g.47350461G>TCA376671845RBP3c.1977G>T (p.Gln659His)
gnomAD v4
10g.47350462A>CCA376671846RBP3c.1978A>C (p.Thr660Pro)
10g.47350462A>GCA376671847RBP3c.1978A>G (p.Thr660Ala)
10g.47350462A>TCA376671848RBP3c.1978A>T (p.Thr660Ser)
10g.47350463C>ACA376671849RBP3c.1979C>A (p.Thr660Asn)
gnomAD v4
10g.47350463C>GCA376671850RBP3c.1979C>G (p.Thr660Ser)
ClinVar dbSNP
10g.47350463C>TCA376671851RBP3c.1979C>T (p.Thr660Ile)
10g.47350464C>ACA469782417RBP3c.1980C>A (p.Thr660=)
10g.47350464C>GCA469782414RBP3c.1980C>G (p.Thr660=)
10g.47350464C>TCA469782415RBP3c.1980C>T (p.Thr660=)
gnomAD v4
10g.47350465A>CCA376671853RBP3c.1981A>C (p.Ser661Arg)
10g.47350465A>GCA376671854RBP3c.1981A>G (p.Ser661Gly)
gnomAD v4
10g.47350465A>TCA376671852RBP3c.1981A>T (p.Ser661Cys)
10g.47350466G>ACA376671855RBP3c.1982G>A (p.Ser661Asn)
10g.47350466G>CCA376671856RBP3c.1982G>C (p.Ser661Thr)
10g.47350466G>TCA376671857RBP3c.1982G>T (p.Ser661Ile)
10g.47350467T>ACA376671858RBP3c.1983T>A (p.Ser661Arg)
10g.47350467T>CCA469782424RBP3c.1983T>C (p.Ser661=)
10g.47350467T>GCA376671859RBP3c.1983T>G (p.Ser661Arg)
10g.47350468G>ACA376671862RBP3c.1984G>A (p.Ala662Thr)
10g.47350468G>CCA376671861RBP3c.1984G>C (p.Ala662Pro)
10g.47350468G>TCA376671860RBP3c.1984G>T (p.Ala662Ser)
10g.47350469C>ACA376671863RBP3c.1985C>A (p.Ala662Asp)
gnomAD v4
10g.47350469C>GCA376671864RBP3c.1985C>G (p.Ala662Gly)
10g.47350469C>TCA376671865RBP3c.1985C>T (p.Ala662Val)
10g.47350470C>ACA469782431RBP3c.1986C>A (p.Ala662=)
dbSNP gnomAD v3 gnomAD v4
10g.47350470C=CA1907806531RBP3c.1986C= (p.Ala662=)
10g.47350470C>GCA469782432RBP3c.1986C>G (p.Ala662=)
10g.47350470C>TCA469782433RBP3c.1986C>T (p.Ala662=)
dbSNP gnomAD v2 gnomAD v4
10g.47350471C>ACA376671866RBP3c.1987C>A (p.Leu663Ile)
dbSNP
10g.47350471C=CA1907806533RBP3c.1987C= (p.Leu663=)
10g.47350471C>GCA376671867RBP3c.1987C>G (p.Leu663Val)
10g.47350471C>TCA376671868RBP3c.1987C>T (p.Leu663Phe)
10g.47350472T>ACA376671871RBP3c.1988T>A (p.Leu663His)
10g.47350472T>CCA376671869RBP3c.1988T>C (p.Leu663Pro)
10g.47350472T>GCA376671870RBP3c.1988T>G (p.Leu663Arg)
10g.47350473C>ACA469782440RBP3c.1989C>A (p.Leu663=)
10g.47350473C>GCA469782438RBP3c.1989C>G (p.Leu663=)
dbSNP
10g.47350473C>TCA469782439RBP3c.1989C>T (p.Leu663=)
10g.47350474C>ACA376671872RBP3c.1990C>A (p.Leu664Met)
10g.47350474C>GCA376671873RBP3c.1990C>G (p.Leu664Val)
10g.47350474C>TCA469782443RBP3c.1990C>T (p.Leu664=)
10g.47350475T>ACA376671874RBP3c.1991T>A (p.Leu664Gln)
10g.47350475T>CCA376671875RBP3c.1991T>C (p.Leu664Pro)
dbSNP gnomAD v4
10g.47350475T>GCA376671876RBP3c.1991T>G (p.Leu664Arg)
10g.47350475T=CA1907806535RBP3c.1991T= (p.Leu664=)
10g.47350476G>ACA5487383RBP3c.1992G>A (p.Leu664=)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.47350476G>CCA206464115RBP3c.1992G>C (p.Leu664=)
10g.47350476G=CA1907806537RBP3c.1992G= (p.Leu664=)
10g.47350476G>TCA206464111RBP3c.1992G>T (p.Leu664=)
10g.47350477C>ACA5487382RBP3c.1993C>A (p.Arg665=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.47350477C=CA1907806539RBP3c.1993C= (p.Arg665=)
10g.47350477C>GCA206464119RBP3c.1993C>G (p.Arg665Gly)
10g.47350477C>TCA5487381RBP3c.1993C>T (p.Arg665Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350478G>ACA5487380RBP3c.1994G>A (p.Arg665Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.47350478G>CCA376671877RBP3c.1994G>C (p.Arg665Pro)
10g.47350478G=CA1907806541RBP3c.1994G= (p.Arg665=)
10g.47350478G>TCA376671878RBP3c.1994G>T (p.Arg665Leu)
dbSNP
10g.47350479G>ACA469782450RBP3c.1995G>A (p.Arg665=)
10g.47350479G>CCA469782451RBP3c.1995G>C (p.Arg665=)
10g.47350479G>TCA469782452RBP3c.1995G>T (p.Arg665=)
10g.47350480G>ACA376671879RBP3c.1996G>A (p.Ala666Thr)
gnomAD v4
10g.47350480G>CCA376671881RBP3c.1996G>C (p.Ala666Pro)
10g.47350480G>TCA376671880RBP3c.1996G>T (p.Ala666Ser)
10g.47350481C>ACA376671882RBP3c.1997C>A (p.Ala666Asp)
dbSNP gnomAD v2 gnomAD v4
10g.47350481C=CA1907806544RBP3c.1997C= (p.Ala666=)
10g.47350481C>GCA376671883RBP3c.1997C>G (p.Ala666Gly)
10g.47350481C>TCA376671884RBP3c.1997C>T (p.Ala666Val)
10g.47350482delCA2741091819RBP3c.1998del (p.Lys667SerfsTer?)
10g.47350482C>ACA206464122RBP3c.1998C>A (p.Ala666=)
10g.47350482C=CA1907806545RBP3c.1998C= (p.Ala666=)
10g.47350482C>GCA206464125RBP3c.1998C>G (p.Ala666=)
10g.47350482C>TCA5487379RBP3c.1998C>T (p.Ala666=)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.47350483A=CA1907806547RBP3c.1999A= (p.Lys667=)
10g.47350483A>CCA376671885RBP3c.1999A>C (p.Lys667Gln)
10g.47350483A>GCA376671886RBP3c.1999A>G (p.Lys667Glu)
dbSNP
10g.47350483A>TCA376671887RBP3c.1999A>T (p.Lys667Ter)
10g.47350484A>CCA376671888RBP3c.2000A>C (p.Lys667Thr)
10g.47350484A>GCA376671889RBP3c.2000A>G (p.Lys667Arg)
10g.47350484A>TCA376671890RBP3c.2000A>T (p.Lys667Met)
10g.47350485G>ACA206464131RBP3c.2001G>A (p.Lys667=)
dbSNP gnomAD v2 gnomAD v4
10g.47350485G>CCA206464138RBP3c.2001G>C (p.Lys667Asn)
10g.47350485G=CA1907806549RBP3c.2001G= (p.Lys667=)
10g.47350485G>TCA5487378RBP3c.2001G>T (p.Lys667Asn)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.47350486C>ACA376671891RBP3c.2002C>A (p.Leu668Met)
gnomAD v4
10g.47350486C=CA1907806551RBP3c.2002C= (p.Leu668=)
10g.47350486C>GCA376671892RBP3c.2002C>G (p.Leu668Val)
dbSNP gnomAD v3 gnomAD v4
10g.47350486C>TCA5487377RBP3c.2002C>T (p.Leu668=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350487T>ACA376671893RBP3c.2003T>A (p.Leu668Gln)
10g.47350487T>CCA376671894RBP3c.2003T>C (p.Leu668Pro)
10g.47350487T>GCA376671895RBP3c.2003T>G (p.Leu668Arg)
10g.47350487_47350488delinsTGCA1907806552RBP3c.2003_2004delinsTG (p.Leu668=)
10g.47350488G>ACA469782470RBP3c.2004G>A (p.Leu668=)
dbSNP gnomAD v2 gnomAD v4
10g.47350488G>CCA469782471RBP3c.2004G>C (p.Leu668=)
10g.47350488G=CA1907806555RBP3c.2004G= (p.Leu668=)
10g.47350488G>TCA469782472RBP3c.2004G>T (p.Leu668=)
gnomAD v4
10g.47350489delCA1907806554RBP3c.2005del (p.Ala669ProfsTer?)
dbSNP
10g.47350489G>ACA376671896RBP3c.2005G>A (p.Ala669Thr)
dbSNP gnomAD v2 gnomAD v4
10g.47350489G>CCA376671897RBP3c.2005G>C (p.Ala669Pro)
10g.47350489G=CA1907806558RBP3c.2005G= (p.Ala669=)
10g.47350489G>TCA376671898RBP3c.2005G>T (p.Ala669Ser)
dbSNP
10g.47350490C>ACA376671899RBP3c.2006C>A (p.Ala669Asp)
10g.47350490C>GCA376671900RBP3c.2006C>G (p.Ala669Gly)
ClinVar
10g.47350490C>TCA376671901RBP3c.2006C>T (p.Ala669Val)
10g.47350491C>ACA469782474RBP3c.2007C>A (p.Ala669=)
10g.47350491C=CA1907806560RBP3c.2007C= (p.Ala669=)
10g.47350491C>GCA469782477RBP3c.2007C>G (p.Ala669=)
10g.47350491C>TCA469782480RBP3c.2007C>T (p.Ala669=)
dbSNP gnomAD v2
10g.47350492C>ACA376671902RBP3c.2008C>A (p.Gln670Lys)
10g.47350492C=CA1907806562RBP3c.2008C= (p.Gln670=)
10g.47350492C>GCA376671903RBP3c.2008C>G (p.Gln670Glu)
dbSNP gnomAD v3 gnomAD v4
10g.47350492C>TCA376671904RBP3c.2008C>T (p.Gln670Ter)
10g.47350493A>CCA376671905RBP3c.2009A>C (p.Gln670Pro)
10g.47350493A>GCA376671907RBP3c.2009A>G (p.Gln670Arg)
10g.47350493A>TCA376671906RBP3c.2009A>T (p.Gln670Leu)
10g.47350494G>ACA469782487RBP3c.2010G>A (p.Gln670=)
10g.47350494G>CCA376671908RBP3c.2010G>C (p.Gln670His)
10g.47350494G>TCA376671909RBP3c.2010G>T (p.Gln670His)
10g.47350495G>ACA376671910RBP3c.2011G>A (p.Gly671Ser)
gnomAD v4
10g.47350495G>CCA376671912RBP3c.2011G>C (p.Gly671Arg)
10g.47350495G>TCA376671911RBP3c.2011G>T (p.Gly671Cys)
10g.47350496G>ACA10628590RBP3c.2012G>A (p.Gly671Asp)
ClinVar dbSNP gnomAD v4
10g.47350496G>CCA376671914RBP3c.2012G>C (p.Gly671Ala)
gnomAD v4
10g.47350496G=CA1907806564RBP3c.2012G= (p.Gly671=)
10g.47350496G>TCA376671913RBP3c.2012G>T (p.Gly671Val)
10g.47350497C>ACA206464158RBP3c.2013C>A (p.Gly671=)
10g.47350497C=CA1907806567RBP3c.2013C= (p.Gly671=)
10g.47350497C>GCA206464171RBP3c.2013C>G (p.Gly671=)
10g.47350497C>TCA5487376RBP3c.2013C>T (p.Gly671=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350498G>ACA376671915RBP3c.2014G>A (p.Ala672Thr)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.47350498G>CCA376671917RBP3c.2014G>C (p.Ala672Pro)
10g.47350498G=CA1907806569RBP3c.2014G= (p.Ala672=)
10g.47350498G>TCA376671916RBP3c.2014G>T (p.Ala672Ser)
gnomAD v4
10g.47350499C>ACA376671918RBP3c.2015C>A (p.Ala672Asp)
10g.47350499C=CA1907806572RBP3c.2015C= (p.Ala672=)
10g.47350499C>GCA376671919RBP3c.2015C>G (p.Ala672Gly)
10g.47350499C>TCA206464176RBP3c.2015C>T (p.Ala672Val)
dbSNP
10g.47350500C>ACA469782495RBP3c.2016C>A (p.Ala672=)
10g.47350500C=CA1907806573RBP3c.2016C= (p.Ala672=)
10g.47350500C>GCA469782497RBP3c.2016C>G (p.Ala672=)
dbSNP
10g.47350500C>TCA469782498RBP3c.2016C>T (p.Ala672=)
10g.47350501T>ACA376671920RBP3c.2017T>A (p.Tyr673Asn)
10g.47350501T>CCA376671921RBP3c.2017T>C (p.Tyr673His)
10g.47350501T>GCA376671922RBP3c.2017T>G (p.Tyr673Asp)
10g.47350502A>CCA376671923RBP3c.2018A>C (p.Tyr673Ser)
10g.47350502A>GCA376671924RBP3c.2018A>G (p.Tyr673Cys)
10g.47350502A>TCA376671925RBP3c.2018A>T (p.Tyr673Phe)
10g.47350503C>ACA376671926RBP3c.2019C>A (p.Tyr673Ter)
10g.47350503C>GCA376671927RBP3c.2019C>G (p.Tyr673Ter)
10g.47350503C>TCA469782508RBP3c.2019C>T (p.Tyr673=)
gnomAD v4
10g.47350504C>ACA376671928RBP3c.2020C>A (p.Arg674Ser)
10g.47350504C=CA1907806575RBP3c.2020C= (p.Arg674=)
10g.47350504C>GCA376671929RBP3c.2020C>G (p.Arg674Gly)
dbSNP gnomAD v4
10g.47350504C>TCA5487375RBP3c.2020C>T (p.Arg674Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350505G>ACA5487374RBP3c.2021G>A (p.Arg674His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350505G>CCA376671931RBP3c.2021G>C (p.Arg674Pro)
10g.47350505G=CA1907806577RBP3c.2021G= (p.Arg674=)
10g.47350505G>TCA376671930RBP3c.2021G>T (p.Arg674Leu)
10g.47350506C>ACA469782510RBP3c.2022C>A (p.Arg674=)
10g.47350506C>GCA469782512RBP3c.2022C>G (p.Arg674=)
10g.47350506C>TCA469782511RBP3c.2022C>T (p.Arg674=)
gnomAD v4
10g.47350507A=CA1907806579RBP3c.2023A= (p.Thr675=)
10g.47350507A>CCA376671932RBP3c.2023A>C (p.Thr675Pro)
10g.47350507A>GCA376671933RBP3c.2023A>G (p.Thr675Ala)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.47350507A>TCA376671934RBP3c.2023A>T (p.Thr675Ser)
10g.47350508C>ACA376671935RBP3c.2024C>A (p.Thr675Lys)
10g.47350508C=CA1907806582RBP3c.2024C= (p.Thr675=)
10g.47350508C>GCA376671936RBP3c.2024C>G (p.Thr675Arg)
10g.47350508C>TCA350934RBP3c.2024C>T (p.Thr675Ile)
ClinVar dbSNP
10g.47350509A>CCA469782519RBP3c.2025A>C (p.Thr675=)
10g.47350509A>GCA469782520RBP3c.2025A>G (p.Thr675=)
10g.47350509A>TCA469782521RBP3c.2025A>T (p.Thr675=)
10g.47350510G>ACA376671937RBP3c.2026G>A (p.Ala676Thr)
dbSNP gnomAD v2 gnomAD v4
10g.47350510G>CCA376671938RBP3c.2026G>C (p.Ala676Pro)
10g.47350510G=CA1907806584RBP3c.2026G= (p.Ala676=)
10g.47350510G>TCA376671939RBP3c.2026G>T (p.Ala676Ser)
10g.47350511C>ACA206464177RBP3c.2027C>A (p.Ala676Asp)
10g.47350511C=CA1907806587RBP3c.2027C= (p.Ala676=)
10g.47350511C>GCA206464182RBP3c.2027C>G (p.Ala676Gly)
10g.47350511C>TCA5487373RBP3c.2027C>T (p.Ala676Val)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.47350512T>ACA469782525RBP3c.2028T>A (p.Ala676=)
10g.47350512T>CCA469782528RBP3c.2028T>C (p.Ala676=)
ClinVar gnomAD v4
10g.47350512T>GCA469782530RBP3c.2028T>G (p.Ala676=)
10g.47350513G>ACA376671940RBP3c.2029G>A (p.Val677Met)
10g.47350513G>CCA376671941RBP3c.2029G>C (p.Val677Leu)
10g.47350513G>TCA376671942RBP3c.2029G>T (p.Val677Leu)
10g.47350514T>ACA376671943RBP3c.2030T>A (p.Val677Glu)
10g.47350514T>CCA376671944RBP3c.2030T>C (p.Val677Ala)
dbSNP gnomAD v2 gnomAD v4
10g.47350514T>GCA376671945RBP3c.2030T>G (p.Val677Gly)
10g.47350514T=CA1907806589RBP3c.2030T= (p.Val677=)
10g.47350517_47350531delCA2609024851RBP3c.2033_2047del (p.Asp678_Leu682del)
gnomAD v4
10g.47350515G>ACA469782532RBP3c.2031G>A (p.Val677=)
10g.47350515G>CCA469782533RBP3c.2031G>C (p.Val677=)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.47350515G=CA1907806591RBP3c.2031G= (p.Val677=)
10g.47350515G>TCA469782534RBP3c.2031G>T (p.Val677=)
10g.47350516G>ACA376671946RBP3c.2032G>A (p.Asp678Asn)
10g.47350516G>CCA376671947RBP3c.2032G>C (p.Asp678His)
10g.47350516G>TCA376671948RBP3c.2032G>T (p.Asp678Tyr)
10g.47350517A=CA1907806593RBP3c.2033A= (p.Asp678=)
10g.47350517A>CCA206464183RBP3c.2033A>C (p.Asp678Ala)
10g.47350517A>GCA5487372RBP3c.2033A>G (p.Asp678Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350517A>TCA206464184RBP3c.2033A>T (p.Asp678Val)
10g.47350518C>ACA376671950RBP3c.2034C>A (p.Asp678Glu)
10g.47350518C>GCA376671949RBP3c.2034C>G (p.Asp678Glu)
10g.47350518C>TCA469782535RBP3c.2034C>T (p.Asp678=)
10g.47350519T>ACA376671951RBP3c.2035T>A (p.Leu679Met)
10g.47350519T>CCA469782536RBP3c.2035T>C (p.Leu679=)
dbSNP
10g.47350519T>GCA376671952RBP3c.2035T>G (p.Leu679Val)
10g.47350520_47350525dupCA2574540257RBP3c.2036_2041dup (p.Glu680_Ser681insLeuGlu)
10g.47350520T>ACA376671953RBP3c.2036T>A (p.Leu679Ter)
10g.47350520T>CCA376671954RBP3c.2036T>C (p.Leu679Ser)
10g.47350520T>GCA376671955RBP3c.2036T>G (p.Leu679Trp)
10g.47350521G>ACA469782538RBP3c.2037G>A (p.Leu679=)
dbSNP gnomAD v3 gnomAD v4
10g.47350521G>CCA376671956RBP3c.2037G>C (p.Leu679Phe)
10g.47350521G=CA1907806595RBP3c.2037G= (p.Leu679=)
10g.47350521G>TCA376671957RBP3c.2037G>T (p.Leu679Phe)
10g.47350522delCA2787867037RBP3c.2038del (p.Glu680SerfsTer21)
10g.47350522G>ACA376671958RBP3c.2038G>A (p.Glu680Lys)
10g.47350522G>CCA376671959RBP3c.2038G>C (p.Glu680Gln)
10g.47350522G>TCA376671960RBP3c.2038G>T (p.Glu680Ter)
10g.47350523A>CCA376671961RBP3c.2039A>C (p.Glu680Ala)
dbSNP
10g.47350523A>GCA376671962RBP3c.2039A>G (p.Glu680Gly)
10g.47350523A>TCA376671963RBP3c.2039A>T (p.Glu680Val)
dbSNP
10g.47350524G>ACA469782541RBP3c.2040G>A (p.Glu680=)
10g.47350524G>CCA376671965RBP3c.2040G>C (p.Glu680Asp)
10g.47350524G>TCA376671964RBP3c.2040G>T (p.Glu680Asp)
10g.47350525T>ACA376671966RBP3c.2041T>A (p.Ser681Thr)
10g.47350525T>CCA376671968RBP3c.2041T>C (p.Ser681Pro)
gnomAD v4
10g.47350525T>GCA376671967RBP3c.2041T>G (p.Ser681Ala)
gnomAD v4
10g.47350526C>ACA206464187RBP3c.2042C>A (p.Ser681Tyr)
dbSNP
10g.47350526C=CA1907806596RBP3c.2042C= (p.Ser681=)
10g.47350526C>GCA206464191RBP3c.2042C>G (p.Ser681Cys)
10g.47350526C>TCA5487371RBP3c.2042C>T (p.Ser681Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.47350527T>ACA469782542RBP3c.2043T>A (p.Ser681=)
10g.47350527T>CCA469782543RBP3c.2043T>C (p.Ser681=)
10g.47350527T>GCA469782545RBP3c.2043T>G (p.Ser681=)
10g.47350528C>ACA376671969RBP3c.2044C>A (p.Leu682Met)
10g.47350528C>GCA376671970RBP3c.2044C>G (p.Leu682Val)
gnomAD v4
10g.47350528C>TCA469782547RBP3c.2044C>T (p.Leu682=)
10g.47350529T>ACA376671971RBP3c.2045T>A (p.Leu682Gln)
10g.47350529T>CCA376671972RBP3c.2045T>C (p.Leu682Pro)
dbSNP gnomAD v2 gnomAD v4
10g.47350529T>GCA376671973RBP3c.2045T>G (p.Leu682Arg)
10g.47350529T=CA1907806598RBP3c.2045T= (p.Leu682=)
10g.47350530G>ACA469782552RBP3c.2046G>A (p.Leu682=)
10g.47350530G>CCA469782554RBP3c.2046G>C (p.Leu682=)
10g.47350530G>TCA469782555RBP3c.2046G>T (p.Leu682=)
10g.47350531G>ACA376671974RBP3c.2047G>A (p.Ala683Thr)
ClinVar dbSNP
10g.47350531G>CCA376671975RBP3c.2047G>C (p.Ala683Pro)
10g.47350531G>TCA376671976RBP3c.2047G>T (p.Ala683Ser)
10g.47350532C>ACA376671979RBP3c.2048C>A (p.Ala683Asp)
dbSNP gnomAD v4
10g.47350532C=CA1907806600RBP3c.2048C= (p.Ala683=)
10g.47350532C>GCA376671978RBP3c.2048C>G (p.Ala683Gly)
dbSNP gnomAD v2 gnomAD v4
10g.47350532C>TCA376671977RBP3c.2048C>T (p.Ala683Val)
gnomAD v4
10g.47350533C>ACA469782556RBP3c.2049C>A (p.Ala683=)
gnomAD v4
10g.47350533C>GCA469782557RBP3c.2049C>G (p.Ala683=)
10g.47350533C>TCA469782558RBP3c.2049C>T (p.Ala683=)
gnomAD v4
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)

Number of alleles fetched