Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.121553978T>ACA383033704SORL1c.2308T>A (p.Tyr770Asn)
c.769T>A (p.Tyr257Asn)
c.1996T>A (p.Tyr666Asn)
c.1783T>A (p.Tyr595Asn)
c.-241T>A (n.-241T>A)
11g.121553978T>CCA383033706SORL1c.2308T>C (p.Tyr770His)
c.769T>C (p.Tyr257His)
c.1996T>C (p.Tyr666His)
c.1783T>C (p.Tyr595His)
c.-241T>C (n.-241T>C)
11g.121553978T>GCA383033705SORL1c.2308T>G (p.Tyr770Asp)
c.769T>G (p.Tyr257Asp)
c.1996T>G (p.Tyr666Asp)
c.1783T>G (p.Tyr595Asp)
c.-241T>G (n.-241T>G)
11g.121553979A>CCA383033707SORL1c.2309A>C (p.Tyr770Ser)
c.770A>C (p.Tyr257Ser)
c.1997A>C (p.Tyr666Ser)
c.1784A>C (p.Tyr595Ser)
c.-240A>C (n.-240A>C)
11g.121553979A>GCA383033709SORL1c.2309A>G (p.Tyr770Cys)
c.770A>G (p.Tyr257Cys)
c.1997A>G (p.Tyr666Cys)
c.1784A>G (p.Tyr595Cys)
c.-240A>G (n.-240A>G)
11g.121553979A>TCA383033708SORL1c.2309A>T (p.Tyr770Phe)
c.770A>T (p.Tyr257Phe)
c.1997A>T (p.Tyr666Phe)
c.1784A>T (p.Tyr595Phe)
c.-240A>T (n.-240A>T)
11g.121553980C>ACA383033710SORL1c.2310C>A (p.Tyr770Ter)
c.771C>A (p.Tyr257Ter)
c.1998C>A (p.Tyr666Ter)
c.1785C>A (p.Tyr595Ter)
c.-239C>A (n.-239C>A)
11g.121553980C>GCA383033711SORL1c.2310C>G (p.Tyr770Ter)
c.771C>G (p.Tyr257Ter)
c.1998C>G (p.Tyr666Ter)
c.1785C>G (p.Tyr595Ter)
c.-239C>G (n.-239C>G)
11g.121553980C>TCA477218626SORL1c.2310C>T (p.Tyr770=)
c.771C>T (p.Tyr257=)
c.1998C>T (p.Tyr666=)
c.1785C>T (p.Tyr595=)
c.-239C>T (n.-239C>T)
11g.121553981C>ACA383033712SORL1c.2311C>A (p.Arg771Ser)
c.772C>A (p.Arg258Ser)
c.1999C>A (p.Arg667Ser)
c.1786C>A (p.Arg596Ser)
c.-238C>A (n.-238C>A)
11g.121553981C=CA2004917283SORL1c.2311C= (p.Arg771=)
c.772C= (p.Arg258=)
c.1999C= (p.Arg667=)
c.1786C= (p.Arg596=)
c.-238C= (n.-238C=)
11g.121553981C>GCA383033713SORL1c.2311C>G (p.Arg771Gly)
c.772C>G (p.Arg258Gly)
c.1999C>G (p.Arg667Gly)
c.1786C>G (p.Arg596Gly)
c.-238C>G (n.-238C>G)
11g.121553981C>TCA6328907SORL1c.2311C>T (p.Arg771Cys)
c.772C>T (p.Arg258Cys)
c.1999C>T (p.Arg667Cys)
c.1786C>T (p.Arg596Cys)
c.-238C>T (n.-238C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121553982G>ACA6328908SORL1c.2312G>A (p.Arg771His)
c.773G>A (p.Arg258His)
c.2000G>A (p.Arg667His)
c.1787G>A (p.Arg596His)
c.-237G>A (n.-237G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121553982G>CCA383033714SORL1c.2312G>C (p.Arg771Pro)
c.773G>C (p.Arg258Pro)
c.2000G>C (p.Arg667Pro)
c.1787G>C (p.Arg596Pro)
c.-237G>C (n.-237G>C)
11g.121553982G=CA2004917284SORL1c.2312G= (p.Arg771=)
c.773G= (p.Arg258=)
c.2000G= (p.Arg667=)
c.1787G= (p.Arg596=)
c.-237G= (n.-237G=)
11g.121553982G>TCA383033715SORL1c.2312G>T (p.Arg771Leu)
c.773G>T (p.Arg258Leu)
c.2000G>T (p.Arg667Leu)
c.1787G>T (p.Arg596Leu)
c.-237G>T (n.-237G>T)
11g.121553983C>ACA477218627SORL1c.2313C>A (p.Arg771=)
c.774C>A (p.Arg258=)
c.2001C>A (p.Arg667=)
c.1788C>A (p.Arg596=)
c.-236C>A (n.-236C>A)
11g.121553983C>GCA477218629SORL1c.2313C>G (p.Arg771=)
c.774C>G (p.Arg258=)
c.2001C>G (p.Arg667=)
c.1788C>G (p.Arg596=)
c.-236C>G (n.-236C>G)
11g.121553983C>TCA477218628SORL1c.2313C>T (p.Arg771=)
c.774C>T (p.Arg258=)
c.2001C>T (p.Arg667=)
c.1788C>T (p.Arg596=)
c.-236C>T (n.-236C>T)
11g.121553984T>ACA383033716SORL1c.2314T>A (p.Tyr772Asn)
c.775T>A (p.Tyr259Asn)
c.2002T>A (p.Tyr668Asn)
c.1789T>A (p.Tyr597Asn)
c.-235T>A (n.-235T>A)
11g.121553984T>CCA383033717SORL1c.2314T>C (p.Tyr772His)
c.775T>C (p.Tyr259His)
c.2002T>C (p.Tyr668His)
c.1789T>C (p.Tyr597His)
c.-235T>C (n.-235T>C)
 gnomAD v4
11g.121553984T>GCA383033718SORL1c.2314T>G (p.Tyr772Asp)
c.775T>G (p.Tyr259Asp)
c.2002T>G (p.Tyr668Asp)
c.1789T>G (p.Tyr597Asp)
c.-235T>G (n.-235T>G)
11g.121553985A=CA2004917285SORL1c.2315A= (p.Tyr772=)
c.776A= (p.Tyr259=)
c.2003A= (p.Tyr668=)
c.1790A= (p.Tyr597=)
c.-234A= (n.-234A=)
11g.121553985A>CCA383033719SORL1c.2315A>C (p.Tyr772Ser)
c.776A>C (p.Tyr259Ser)
c.2003A>C (p.Tyr668Ser)
c.1790A>C (p.Tyr597Ser)
c.-234A>C (n.-234A>C)
11g.121553985A>GCA6328909SORL1c.2315A>G (p.Tyr772Cys)
c.776A>G (p.Tyr259Cys)
c.2003A>G (p.Tyr668Cys)
c.1790A>G (p.Tyr597Cys)
c.-234A>G (n.-234A>G)
 dbSNP ExAC
11g.121553985A>TCA383033720SORL1c.2315A>T (p.Tyr772Phe)
c.776A>T (p.Tyr259Phe)
c.2003A>T (p.Tyr668Phe)
c.1790A>T (p.Tyr597Phe)
c.-234A>T (n.-234A>T)
11g.121553986T>ACA383033721SORL1c.2316T>A (p.Tyr772Ter)
c.777T>A (p.Tyr259Ter)
c.2004T>A (p.Tyr668Ter)
c.1791T>A (p.Tyr597Ter)
c.-233T>A (n.-233T>A)
11g.121553986T>CCA477218630SORL1c.2316T>C (p.Tyr772=)
c.777T>C (p.Tyr259=)
c.2004T>C (p.Tyr668=)
c.1791T>C (p.Tyr597=)
c.-233T>C (n.-233T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121553986T>GCA383033722SORL1c.2316T>G (p.Tyr772Ter)
c.777T>G (p.Tyr259Ter)
c.2004T>G (p.Tyr668Ter)
c.1791T>G (p.Tyr597Ter)
c.-233T>G (n.-233T>G)
11g.121553986T=CA2004917286SORL1c.2316T= (p.Tyr772=)
c.777T= (p.Tyr259=)
c.2004T= (p.Tyr668=)
c.1791T= (p.Tyr597=)
c.-233T= (n.-233T=)
11g.121553987G>ACA383033723SORL1c.2317G>A (p.Asp773Asn)
c.778G>A (p.Asp260Asn)
c.2005G>A (p.Asp669Asn)
c.1792G>A (p.Asp598Asn)
c.-232G>A (n.-232G>A)
 gnomAD v4
11g.121553987G>CCA383033724SORL1c.2317G>C (p.Asp773His)
c.778G>C (p.Asp260His)
c.2005G>C (p.Asp669His)
c.1792G>C (p.Asp598His)
c.-232G>C (n.-232G>C)
11g.121553987G>TCA383033725SORL1c.2317G>T (p.Asp773Tyr)
c.778G>T (p.Asp260Tyr)
c.2005G>T (p.Asp669Tyr)
c.1792G>T (p.Asp598Tyr)
c.-232G>T (n.-232G>T)
 gnomAD v4 COSMIC
11g.121553988A=CA2004917287SORL1c.2318A= (p.Asp773=)
c.779A= (p.Asp260=)
c.2006A= (p.Asp669=)
c.1793A= (p.Asp598=)
c.-231A= (n.-231A=)
11g.121553988A>CCA383033726SORL1c.2318A>C (p.Asp773Ala)
c.779A>C (p.Asp260Ala)
c.2006A>C (p.Asp669Ala)
c.1793A>C (p.Asp598Ala)
c.-231A>C (n.-231A>C)
11g.121553988A>GCA383033727SORL1c.2318A>G (p.Asp773Gly)
c.779A>G (p.Asp260Gly)
c.2006A>G (p.Asp669Gly)
c.1793A>G (p.Asp598Gly)
c.-231A>G (n.-231A>G)
11g.121553988A>TCA383033728SORL1c.2318A>T (p.Asp773Val)
c.779A>T (p.Asp260Val)
c.2006A>T (p.Asp669Val)
c.1793A>T (p.Asp598Val)
c.-231A>T (n.-231A>T)
 dbSNP gnomAD v3 gnomAD v4
11g.121553989C>ACA383033729SORL1c.2319C>A (p.Asp773Glu)
c.780C>A (p.Asp260Glu)
c.2007C>A (p.Asp669Glu)
c.1794C>A (p.Asp598Glu)
c.-230C>A (n.-230C>A)
11g.121553989C>GCA383033730SORL1c.2319C>G (p.Asp773Glu)
c.780C>G (p.Asp260Glu)
c.2007C>G (p.Asp669Glu)
c.1794C>G (p.Asp598Glu)
c.-230C>G (n.-230C>G)
11g.121553989C>TCA477218631SORL1c.2319C>T (p.Asp773=)
c.780C>T (p.Asp260=)
c.2007C>T (p.Asp669=)
c.1794C>T (p.Asp598=)
c.-230C>T (n.-230C>T)
 gnomAD v4
11g.121553990C>ACA383033731SORL1c.2320C>A (p.Leu774Met)
c.781C>A (p.Leu261Met)
c.2008C>A (p.Leu670Met)
c.1795C>A (p.Leu599Met)
c.-229C>A (n.-229C>A)
11g.121553990C>GCA383033732SORL1c.2320C>G (p.Leu774Val)
c.781C>G (p.Leu261Val)
c.2008C>G (p.Leu670Val)
c.1795C>G (p.Leu599Val)
c.-229C>G (n.-229C>G)
11g.121553990C>TCA477218632SORL1c.2320C>T (p.Leu774=)
c.781C>T (p.Leu261=)
c.2008C>T (p.Leu670=)
c.1795C>T (p.Leu599=)
c.-229C>T (n.-229C>T)
11g.121553991T>ACA383033734SORL1c.2321T>A (p.Leu774Gln)
c.782T>A (p.Leu261Gln)
c.2009T>A (p.Leu670Gln)
c.1796T>A (p.Leu599Gln)
c.-228T>A (n.-228T>A)
11g.121553991T>CCA383033735SORL1c.2321T>C (p.Leu774Pro)
c.782T>C (p.Leu261Pro)
c.2009T>C (p.Leu670Pro)
c.1796T>C (p.Leu599Pro)
c.-228T>C (n.-228T>C)
11g.121553991T>GCA383033733SORL1c.2321T>G (p.Leu774Arg)
c.782T>G (p.Leu261Arg)
c.2009T>G (p.Leu670Arg)
c.1796T>G (p.Leu599Arg)
c.-228T>G (n.-228T>G)
 gnomAD v4
11g.121553992G>ACA477218633SORL1c.2322G>A (p.Leu774=)
c.783G>A (p.Leu261=)
c.2010G>A (p.Leu670=)
c.1797G>A (p.Leu599=)
c.-227G>A (n.-227G>A)
 dbSNP gnomAD v3 gnomAD v4
11g.121553992G>CCA477218634SORL1c.2322G>C (p.Leu774=)
c.783G>C (p.Leu261=)
c.2010G>C (p.Leu670=)
c.1797G>C (p.Leu599=)
c.-227G>C (n.-227G>C)
11g.121553992G=CA2004917288SORL1c.2322G= (p.Leu774=)
c.783G= (p.Leu261=)
c.2010G= (p.Leu670=)
c.1797G= (p.Leu599=)
c.-227G= (n.-227G=)

Number of alleles fetched