| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.121554073T>A | CA383033901 | SORL1 | c.2403T>A (p.Cys801Ter) c.864T>A (p.Cys288Ter) c.2091T>A (p.Cys697Ter) c.1878T>A (p.Cys626Ter) c.-146T>A (n.-146T>A) | |
| 11 | g.121554073T>C | CA477218694 | SORL1 | c.2403T>C (p.Cys801=) c.864T>C (p.Cys288=) c.2091T>C (p.Cys697=) c.1878T>C (p.Cys626=) c.-146T>C (n.-146T>C) | dbSNP |
| 11 | g.121554073T>G | CA383033902 | SORL1 | c.2403T>G (p.Cys801Trp) c.864T>G (p.Cys288Trp) c.2091T>G (p.Cys697Trp) c.1878T>G (p.Cys626Trp) c.-146T>G (n.-146T>G) | |
| 11 | g.121554073T= | CA2004917316 | SORL1 | c.2403T= (p.Cys801=) c.864T= (p.Cys288=) c.2091T= (p.Cys697=) c.1878T= (p.Cys626=) c.-146T= (n.-146T=) | |
| 11 | g.121554074T>A | CA383033903 | SORL1 | c.2404T>A (p.Leu802Met) c.865T>A (p.Leu289Met) c.2092T>A (p.Leu698Met) c.1879T>A (p.Leu627Met) c.-145T>A (n.-145T>A) | |
| 11 | g.121554074T>C | CA229898246 | SORL1 | c.2404T>C (p.Leu802=) c.865T>C (p.Leu289=) c.2092T>C (p.Leu698=) c.1879T>C (p.Leu627=) c.-145T>C (n.-145T>C) | dbSNP |
| 11 | g.121554074T>G | CA383033904 | SORL1 | c.2404T>G (p.Leu802Val) c.865T>G (p.Leu289Val) c.2092T>G (p.Leu698Val) c.1879T>G (p.Leu627Val) c.-145T>G (n.-145T>G) | |
| 11 | g.121554074T= | CA2004917317 | SORL1 | c.2404T= (p.Leu802=) c.865T= (p.Leu289=) c.2092T= (p.Leu698=) c.1879T= (p.Leu627=) c.-145T= (n.-145T=) | |
| 11 | g.121554075T>A | CA383033905 | SORL1 | c.2405T>A (p.Leu802Ter) c.866T>A (p.Leu289Ter) c.2093T>A (p.Leu698Ter) c.1880T>A (p.Leu627Ter) c.-144T>A (n.-144T>A) | |
| 11 | g.121554075T>C | CA383033906 | SORL1 | c.2405T>C (p.Leu802Ser) c.866T>C (p.Leu289Ser) c.2093T>C (p.Leu698Ser) c.1880T>C (p.Leu627Ser) c.-144T>C (n.-144T>C) | |
| 11 | g.121554075T>G | CA383033907 | SORL1 | c.2405T>G (p.Leu802Trp) c.866T>G (p.Leu289Trp) c.2093T>G (p.Leu698Trp) c.1880T>G (p.Leu627Trp) c.-144T>G (n.-144T>G) | |
| 11 | g.121554076G>A | CA6328924 | SORL1 | c.2406G>A (p.Leu802=) c.867G>A (p.Leu289=) c.2094G>A (p.Leu698=) c.1881G>A (p.Leu627=) c.-143G>A (n.-143G>A) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 11 | g.121554076G>C | CA383033908 | SORL1 | c.2406G>C (p.Leu802Phe) c.867G>C (p.Leu289Phe) c.2094G>C (p.Leu698Phe) c.1881G>C (p.Leu627Phe) c.-143G>C (n.-143G>C) | |
| 11 | g.121554076G= | CA2004917318 | SORL1 | c.2406G= (p.Leu802=) c.867G= (p.Leu289=) c.2094G= (p.Leu698=) c.1881G= (p.Leu627=) c.-143G= (n.-143G=) | |
| 11 | g.121554076G>T | CA383033909 | SORL1 | c.2406G>T (p.Leu802Phe) c.867G>T (p.Leu289Phe) c.2094G>T (p.Leu698Phe) c.1881G>T (p.Leu627Phe) c.-143G>T (n.-143G>T) | |
| 11 | g.121554077T>A | CA383033911 | SORL1 | c.2407T>A (p.Tyr803Asn) c.868T>A (p.Tyr290Asn) c.2095T>A (p.Tyr699Asn) c.1882T>A (p.Tyr628Asn) c.-142T>A (n.-142T>A) | |
| 11 | g.121554077T>C | CA383033912 | SORL1 | c.2407T>C (p.Tyr803His) c.868T>C (p.Tyr290His) c.2095T>C (p.Tyr699His) c.1882T>C (p.Tyr628His) c.-142T>C (n.-142T>C) | |
| 11 | g.121554077T>G | CA383033910 | SORL1 | c.2407T>G (p.Tyr803Asp) c.868T>G (p.Tyr290Asp) c.2095T>G (p.Tyr699Asp) c.1882T>G (p.Tyr628Asp) c.-142T>G (n.-142T>G) | |
| 11 | g.121554078A= | CA2004917319 | SORL1 | c.2408A= (p.Tyr803=) c.869A= (p.Tyr290=) c.2096A= (p.Tyr699=) c.1883A= (p.Tyr628=) c.-141A= (n.-141A=) | |
| 11 | g.121554078A>C | CA383033913 | SORL1 | c.2408A>C (p.Tyr803Ser) c.869A>C (p.Tyr290Ser) c.2096A>C (p.Tyr699Ser) c.1883A>C (p.Tyr628Ser) c.-141A>C (n.-141A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.121554078A>G | CA383033914 | SORL1 | c.2408A>G (p.Tyr803Cys) c.869A>G (p.Tyr290Cys) c.2096A>G (p.Tyr699Cys) c.1883A>G (p.Tyr628Cys) c.-141A>G (n.-141A>G) | |
| 11 | g.121554078A>T | CA383033915 | SORL1 | c.2408A>T (p.Tyr803Phe) c.869A>T (p.Tyr290Phe) c.2096A>T (p.Tyr699Phe) c.1883A>T (p.Tyr628Phe) c.-141A>T (n.-141A>T) | |
| 11 | g.121554079T>A | CA383033916 | SORL1 | c.2409T>A (p.Tyr803Ter) c.870T>A (p.Tyr290Ter) c.2097T>A (p.Tyr699Ter) c.1884T>A (p.Tyr628Ter) c.-140T>A (n.-140T>A) | |
| 11 | g.121554079T>C | CA6328925 | SORL1 | c.2409T>C (p.Tyr803=) c.870T>C (p.Tyr290=) c.2097T>C (p.Tyr699=) c.1884T>C (p.Tyr628=) c.-140T>C (n.-140T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121554079T>G | CA383033917 | SORL1 | c.2409T>G (p.Tyr803Ter) c.870T>G (p.Tyr290Ter) c.2097T>G (p.Tyr699Ter) c.1884T>G (p.Tyr628Ter) c.-140T>G (n.-140T>G) | |
| 11 | g.121554079T= | CA2004917320 | SORL1 | c.2409T= (p.Tyr803=) c.870T= (p.Tyr290=) c.2097T= (p.Tyr699=) c.1884T= (p.Tyr628=) c.-140T= (n.-140T=) | |
| 11 | g.121554080T>A | CA383033918 | SORL1 | c.2410T>A (p.Trp804Arg) c.871T>A (p.Trp291Arg) c.2098T>A (p.Trp700Arg) c.1885T>A (p.Trp629Arg) c.-139T>A (n.-139T>A) | |
| 11 | g.121554080T>C | CA383033919 | SORL1 | c.2410T>C (p.Trp804Arg) c.871T>C (p.Trp291Arg) c.2098T>C (p.Trp700Arg) c.1885T>C (p.Trp629Arg) c.-139T>C (n.-139T>C) | |
| 11 | g.121554080T>G | CA383033920 | SORL1 | c.2410T>G (p.Trp804Gly) c.871T>G (p.Trp291Gly) c.2098T>G (p.Trp700Gly) c.1885T>G (p.Trp629Gly) c.-139T>G (n.-139T>G) | |
| 11 | g.121554081G>A | CA383033921 | SORL1 | c.2411G>A (p.Trp804Ter) c.872G>A (p.Trp291Ter) c.2099G>A (p.Trp700Ter) c.1886G>A (p.Trp629Ter) c.-138G>A (n.-138G>A) | |
| 11 | g.121554081G>C | CA383033922 | SORL1 | c.2411G>C (p.Trp804Ser) c.872G>C (p.Trp291Ser) c.2099G>C (p.Trp700Ser) c.1886G>C (p.Trp629Ser) c.-138G>C (n.-138G>C) | |
| 11 | g.121554081G= | CA2004917321 | SORL1 | c.2411G= (p.Trp804=) c.872G= (p.Trp291=) c.2099G= (p.Trp700=) c.1886G= (p.Trp629=) c.-138G= (n.-138G=) | |
| 11 | g.121554081G>T | CA6328926 | SORL1 | c.2411G>T (p.Trp804Leu) c.872G>T (p.Trp291Leu) c.2099G>T (p.Trp700Leu) c.1886G>T (p.Trp629Leu) c.-138G>T (n.-138G>T) | dbSNP ExAC gnomAD v4 |
| 11 | g.121554082del | CA2616499429 | SORL1 | c.2412del (p.Trp804CysfsTer14) c.873del (p.Trp291CysfsTer14) c.2100del (p.Trp700CysfsTer14) c.1887del (p.Trp629CysfsTer14) c.-137del (n.-137del) | gnomAD v4 |
| 11 | g.121554082G>A | CA383033924 | SORL1 | c.2412G>A (p.Trp804Ter) c.873G>A (p.Trp291Ter) c.2100G>A (p.Trp700Ter) c.1887G>A (p.Trp629Ter) c.-137G>A (n.-137G>A) | |
| 11 | g.121554082G>C | CA6328927 | SORL1 | c.2412G>C (p.Trp804Cys) c.873G>C (p.Trp291Cys) c.2100G>C (p.Trp700Cys) c.1887G>C (p.Trp629Cys) c.-137G>C (n.-137G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.121554082G= | CA2004917322 | SORL1 | c.2412G= (p.Trp804=) c.873G= (p.Trp291=) c.2100G= (p.Trp700=) c.1887G= (p.Trp629=) c.-137G= (n.-137G=) | |
| 11 | g.121554082G>T | CA383033923 | SORL1 | c.2412G>T (p.Trp804Cys) c.873G>T (p.Trp291Cys) c.2100G>T (p.Trp700Cys) c.1887G>T (p.Trp629Cys) c.-137G>T (n.-137G>T) | |
| 11 | g.121554083T>A | CA383033925 | SORL1 | c.2413T>A (p.Ser805Thr) c.874T>A (p.Ser292Thr) c.2101T>A (p.Ser701Thr) c.1888T>A (p.Ser630Thr) c.-136T>A (n.-136T>A) | |
| 11 | g.121554083T>C | CA383033926 | SORL1 | c.2413T>C (p.Ser805Pro) c.874T>C (p.Ser292Pro) c.2101T>C (p.Ser701Pro) c.1888T>C (p.Ser630Pro) c.-136T>C (n.-136T>C) | |
| 11 | g.121554083T>G | CA383033927 | SORL1 | c.2413T>G (p.Ser805Ala) c.874T>G (p.Ser292Ala) c.2101T>G (p.Ser701Ala) c.1888T>G (p.Ser630Ala) c.-136T>G (n.-136T>G) | |
| 11 | g.121554084C>A | CA383033928 | SORL1 | c.2414C>A (p.Ser805Tyr) c.875C>A (p.Ser292Tyr) c.2102C>A (p.Ser701Tyr) c.1889C>A (p.Ser630Tyr) c.-135C>A (n.-135C>A) | gnomAD v4 |
| 11 | g.121554084C= | CA2004917323 | SORL1 | c.2414C= (p.Ser805=) c.875C= (p.Ser292=) c.2102C= (p.Ser701=) c.1889C= (p.Ser630=) c.-135C= (n.-135C=) | |
| 11 | g.121554084C>G | CA383033929 | SORL1 | c.2414C>G (p.Ser805Cys) c.875C>G (p.Ser292Cys) c.2102C>G (p.Ser701Cys) c.1889C>G (p.Ser630Cys) c.-135C>G (n.-135C>G) | |
| 11 | g.121554084C>T | CA6328928 | SORL1 | c.2414C>T (p.Ser805Phe) c.875C>T (p.Ser292Phe) c.2102C>T (p.Ser701Phe) c.1889C>T (p.Ser630Phe) c.-135C>T (n.-135C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.121554085C>A | CA477218695 | SORL1 | c.2415C>A (p.Ser805=) c.876C>A (p.Ser292=) c.2103C>A (p.Ser701=) c.1890C>A (p.Ser630=) c.-134C>A (n.-134C>A) | |
| 11 | g.121554085C= | CA2004917324 | SORL1 | c.2415C= (p.Ser805=) c.876C= (p.Ser292=) c.2103C= (p.Ser701=) c.1890C= (p.Ser630=) c.-134C= (n.-134C=) | |
| 11 | g.121554085C>G | CA477218696 | SORL1 | c.2415C>G (p.Ser805=) c.876C>G (p.Ser292=) c.2103C>G (p.Ser701=) c.1890C>G (p.Ser630=) c.-134C>G (n.-134C>G) | |
| 11 | g.121554085C>T | CA6328929 | SORL1 | c.2415C>T (p.Ser805=) c.876C>T (p.Ser292=) c.2103C>T (p.Ser701=) c.1890C>T (p.Ser630=) c.-134C>T (n.-134C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.121554086G>A | CA383033930 | SORL1 | c.2416G>A (p.Asp806Asn) c.877G>A (p.Asp293Asn) c.2104G>A (p.Asp702Asn) c.1891G>A (p.Asp631Asn) c.-133G>A (n.-133G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |