Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.121553977C>A | CA477218624 | SORL1 | c.2307C>A (p.Ile769=) c.768C>A (p.Ile256=) c.1995C>A (p.Ile665=) c.1782C>A (p.Ile594=) c.-242C>A (n.-242C>A) | gnomAD v4 |
11 | g.121553977C>G | CA383033703 | SORL1 | c.2307C>G (p.Ile769Met) c.768C>G (p.Ile256Met) c.1995C>G (p.Ile665Met) c.1782C>G (p.Ile594Met) c.-242C>G (n.-242C>G) | |
11 | g.121553977C>T | CA477218625 | SORL1 | c.2307C>T (p.Ile769=) c.768C>T (p.Ile256=) c.1995C>T (p.Ile665=) c.1782C>T (p.Ile594=) c.-242C>T (n.-242C>T) | |
11 | g.121553978T>A | CA383033704 | SORL1 | c.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) | |
11 | g.121553978T>C | CA383033706 | SORL1 | c.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) | |
11 | g.121553978T>G | CA383033705 | SORL1 | c.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) | |
11 | g.121553979A>C | CA383033707 | SORL1 | c.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) | |
11 | g.121553979A>G | CA383033709 | SORL1 | c.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) | |
11 | g.121553979A>T | CA383033708 | SORL1 | c.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) | |
11 | g.121553980C>A | CA383033710 | SORL1 | c.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) | |
11 | g.121553980C>G | CA383033711 | SORL1 | c.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) | |
11 | g.121553980C>T | CA477218626 | SORL1 | c.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) | |
11 | g.121553981C>A | CA383033712 | SORL1 | c.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) | |
11 | g.121553981C= | CA2004917283 | SORL1 | c.2311C= (p.Arg771=) c.772C= (p.Arg258=) c.1999C= (p.Arg667=) c.1786C= (p.Arg596=) c.-238C= (n.-238C=) | |
11 | g.121553981C>G | CA383033713 | SORL1 | c.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) | |
11 | g.121553981C>T | CA6328907 | SORL1 | c.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 |
11 | g.121553982G>A | CA6328908 | SORL1 | c.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 |
11 | g.121553982G>C | CA383033714 | SORL1 | c.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) | |
11 | g.121553982G= | CA2004917284 | SORL1 | c.2312G= (p.Arg771=) c.773G= (p.Arg258=) c.2000G= (p.Arg667=) c.1787G= (p.Arg596=) c.-237G= (n.-237G=) | |
11 | g.121553982G>T | CA383033715 | SORL1 | c.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) | |
11 | g.121553983C>A | CA477218627 | SORL1 | c.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) | |
11 | g.121553983C>G | CA477218629 | SORL1 | c.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) | |
11 | g.121553983C>T | CA477218628 | SORL1 | c.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) | |
11 | g.121553984T>A | CA383033716 | SORL1 | c.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) | |
11 | g.121553984T>C | CA383033717 | SORL1 | c.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 |
11 | g.121553984T>G | CA383033718 | SORL1 | c.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) | |
11 | g.121553985A= | CA2004917285 | SORL1 | c.2315A= (p.Tyr772=) c.776A= (p.Tyr259=) c.2003A= (p.Tyr668=) c.1790A= (p.Tyr597=) c.-234A= (n.-234A=) | |
11 | g.121553985A>C | CA383033719 | SORL1 | c.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) | |
11 | g.121553985A>G | CA6328909 | SORL1 | c.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 |
11 | g.121553985A>T | CA383033720 | SORL1 | c.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) | |
11 | g.121553986T>A | CA383033721 | SORL1 | c.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) | |
11 | g.121553986T>C | CA477218630 | SORL1 | c.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 |
11 | g.121553986T>G | CA383033722 | SORL1 | c.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) | |
11 | g.121553986T= | CA2004917286 | SORL1 | c.2316T= (p.Tyr772=) c.777T= (p.Tyr259=) c.2004T= (p.Tyr668=) c.1791T= (p.Tyr597=) c.-233T= (n.-233T=) | |
11 | g.121553987G>A | CA383033723 | SORL1 | c.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 |
11 | g.121553987G>C | CA383033724 | SORL1 | c.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) | |
11 | g.121553987G>T | CA383033725 | SORL1 | c.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 |
11 | g.121553988A= | CA2004917287 | SORL1 | c.2318A= (p.Asp773=) c.779A= (p.Asp260=) c.2006A= (p.Asp669=) c.1793A= (p.Asp598=) c.-231A= (n.-231A=) | |
11 | g.121553988A>C | CA383033726 | SORL1 | c.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) | |
11 | g.121553988A>G | CA383033727 | SORL1 | c.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) | |
11 | g.121553988A>T | CA383033728 | SORL1 | c.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 |
11 | g.121553989C>A | CA383033729 | SORL1 | c.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) | |
11 | g.121553989C>G | CA383033730 | SORL1 | c.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) | |
11 | g.121553989C>T | CA477218631 | SORL1 | c.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 |
11 | g.121553990C>A | CA383033731 | SORL1 | c.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) | |
11 | g.121553990C>G | CA383033732 | SORL1 | c.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) | |
11 | g.121553990C>T | CA477218632 | SORL1 | c.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) | |
11 | g.121553991T>A | CA383033734 | SORL1 | c.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) | |
11 | g.121553991T>C | CA383033735 | SORL1 | c.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) | |
11 | g.121553991T>G | CA383033733 | SORL1 | c.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 |