Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)
11g.121553992G>TCA477218635SORL1c.2322G>T (p.Leu774=)
c.783G>T (p.Leu261=)
c.2010G>T (p.Leu670=)
c.1797G>T (p.Leu599=)
c.-227G>T (n.-227G>T)
11g.121553993G>ACA383033736SORL1c.2323G>A (p.Ala775Thr)
c.784G>A (p.Ala262Thr)
c.2011G>A (p.Ala671Thr)
c.1798G>A (p.Ala600Thr)
c.-226G>A (n.-226G>A)
11g.121553993G>CCA383033737SORL1c.2323G>C (p.Ala775Pro)
c.784G>C (p.Ala262Pro)
c.2011G>C (p.Ala671Pro)
c.1798G>C (p.Ala600Pro)
c.-226G>C (n.-226G>C)
11g.121553993G>TCA383033738SORL1c.2323G>T (p.Ala775Ser)
c.784G>T (p.Ala262Ser)
c.2011G>T (p.Ala671Ser)
c.1798G>T (p.Ala600Ser)
c.-226G>T (n.-226G>T)
11g.121553994C>ACA383033739SORL1c.2324C>A (p.Ala775Asp)
c.785C>A (p.Ala262Asp)
c.2012C>A (p.Ala671Asp)
c.1799C>A (p.Ala600Asp)
c.-225C>A (n.-225C>A)
11g.121553994C=CA2004917289SORL1c.2324C= (p.Ala775=)
c.785C= (p.Ala262=)
c.2012C= (p.Ala671=)
c.1799C= (p.Ala600=)
c.-225C= (n.-225C=)
11g.121553994C>GCA383033740SORL1c.2324C>G (p.Ala775Gly)
c.785C>G (p.Ala262Gly)
c.2012C>G (p.Ala671Gly)
c.1799C>G (p.Ala600Gly)
c.-225C>G (n.-225C>G)
 dbSNP gnomAD v2 gnomAD v4
11g.121553994C>TCA383033741SORL1c.2324C>T (p.Ala775Val)
c.785C>T (p.Ala262Val)
c.2012C>T (p.Ala671Val)
c.1799C>T (p.Ala600Val)
c.-225C>T (n.-225C>T)
11g.121553995C>ACA477218636SORL1c.2325C>A (p.Ala775=)
c.786C>A (p.Ala262=)
c.2013C>A (p.Ala671=)
c.1800C>A (p.Ala600=)
c.-224C>A (n.-224C>A)
11g.121553995C>GCA477218637SORL1c.2325C>G (p.Ala775=)
c.786C>G (p.Ala262=)
c.2013C>G (p.Ala671=)
c.1800C>G (p.Ala600=)
c.-224C>G (n.-224C>G)
11g.121553995C>TCA477218638SORL1c.2325C>T (p.Ala775=)
c.786C>T (p.Ala262=)
c.2013C>T (p.Ala671=)
c.1800C>T (p.Ala600=)
c.-224C>T (n.-224C>T)
11g.121553996T>ACA383033742SORL1c.2326T>A (p.Ser776Thr)
c.787T>A (p.Ser263Thr)
c.2014T>A (p.Ser672Thr)
c.1801T>A (p.Ser601Thr)
c.-223T>A (n.-223T>A)
11g.121553996T>CCA383033744SORL1c.2326T>C (p.Ser776Pro)
c.787T>C (p.Ser263Pro)
c.2014T>C (p.Ser672Pro)
c.1801T>C (p.Ser601Pro)
c.-223T>C (n.-223T>C)
11g.121553996T>GCA383033743SORL1c.2326T>G (p.Ser776Ala)
c.787T>G (p.Ser263Ala)
c.2014T>G (p.Ser672Ala)
c.1801T>G (p.Ser601Ala)
c.-223T>G (n.-223T>G)
11g.121553997C>ACA383033745SORL1c.2327C>A (p.Ser776Ter)
c.788C>A (p.Ser263Ter)
c.2015C>A (p.Ser672Ter)
c.1802C>A (p.Ser601Ter)
c.-222C>A (n.-222C>A)
11g.121553997C=CA2004917290SORL1c.2327C= (p.Ser776=)
c.788C= (p.Ser263=)
c.2015C= (p.Ser672=)
c.1802C= (p.Ser601=)
c.-222C= (n.-222C=)
11g.121553997C>GCA383033746SORL1c.2327C>G (p.Ser776Trp)
c.788C>G (p.Ser263Trp)
c.2015C>G (p.Ser672Trp)
c.1802C>G (p.Ser601Trp)
c.-222C>G (n.-222C>G)

Number of alleles fetched