| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.121558569_121558570del | CA2616497925 | SORL1 | c.2664-22_2664-21del (n.2664-22_2664-21del) n.392-22_392-21del n.370-22_370-21del c.1125-22_1125-21del (n.1125-22_1125-21del) c.24-22_24-21del (n.24-22_24-21del) c.2352-22_2352-21del (n.2352-22_2352-21del) c.2139-22_2139-21del (n.2139-22_2139-21del) | gnomAD v4 |
| 11 | g.121558569G>A | CA2793897431 | SORL1 | c.2664-22G>A (n.2664-22G>A) n.392-22G>A n.370-22G>A c.1125-22G>A (n.1125-22G>A) c.24-22G>A (n.24-22G>A) c.2352-22G>A (n.2352-22G>A) c.2139-22G>A (n.2139-22G>A) | |
| 11 | g.121558570T>C | CA602580592 | SORL1 | c.2664-21T>C (n.2664-21T>C) n.392-21T>C n.370-21T>C c.1125-21T>C (n.1125-21T>C) c.24-21T>C (n.24-21T>C) c.2352-21T>C (n.2352-21T>C) c.2139-21T>C (n.2139-21T>C) | dbSNP gnomAD v2 |
| 11 | g.121558570T= | CA2004919270 | SORL1 | c.2664-21T= (n.2664-21T=) n.392-21T= n.370-21T= c.1125-21T= (n.1125-21T=) c.24-21T= (n.24-21T=) c.2352-21T= (n.2352-21T=) c.2139-21T= (n.2139-21T=) | |
| 11 | g.121558571_121558578dup | CA2616497926 | SORL1 | c.2664-20_2664-13dup (n.2664-20_2664-13dup) n.392-20_392-13dup n.370-20_370-13dup c.1125-20_1125-13dup (n.1125-20_1125-13dup) c.24-20_24-13dup (n.24-20_24-13dup) c.2352-20_2352-13dup (n.2352-20_2352-13dup) c.2139-20_2139-13dup (n.2139-20_2139-13dup) | gnomAD v4 |
| 11 | g.121558571_121558572insTTAAAGATAATA | CA2549926192 | SORL1 | c.2664-20_2664-19insTTAAAGATAATA (n.2664-20_2664-19insTTAAAGATAATA) n.392-20_392-19insTTAAAGATAATA n.370-20_370-19insTTAAAGATAATA c.1125-20_1125-19insTTAAAGATAATA (n.1125-20_1125-19insTTAAAGATAATA) c.24-20_24-19insTTAAAGATAATA (n.24-20_24-19insTTAAAGATAATA) c.2352-20_2352-19insTTAAAGATAATA (n.2352-20_2352-19insTTAAAGATAATA) c.2139-20_2139-19insTTAAAGATAATA (n.2139-20_2139-19insTTAAAGATAATA) | |
| 11 | g.121558572C= | CA2004919271 | SORL1 | c.2664-19C= (n.2664-19C=) n.392-19C= n.370-19C= c.1125-19C= (n.1125-19C=) c.24-19C= (n.24-19C=) c.2352-19C= (n.2352-19C=) c.2139-19C= (n.2139-19C=) | |
| 11 | g.121558572C>G | CA229902644 | SORL1 | c.2664-19C>G (n.2664-19C>G) n.392-19C>G n.370-19C>G c.1125-19C>G (n.1125-19C>G) c.24-19C>G (n.24-19C>G) c.2352-19C>G (n.2352-19C>G) c.2139-19C>G (n.2139-19C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.121558572C>T | CA672585586 | SORL1 | c.2664-19C>T (n.2664-19C>T) n.392-19C>T n.370-19C>T c.1125-19C>T (n.1125-19C>T) c.24-19C>T (n.24-19C>T) c.2352-19C>T (n.2352-19C>T) c.2139-19C>T (n.2139-19C>T) | dbSNP |
| 11 | g.121558573T>C | CA672585593 | SORL1 | c.2664-18T>C (n.2664-18T>C) n.392-18T>C n.370-18T>C c.1125-18T>C (n.1125-18T>C) c.24-18T>C (n.24-18T>C) c.2352-18T>C (n.2352-18T>C) c.2139-18T>C (n.2139-18T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.121558573T= | CA2004919272 | SORL1 | c.2664-18T= (n.2664-18T=) n.392-18T= n.370-18T= c.1125-18T= (n.1125-18T=) c.24-18T= (n.24-18T=) c.2352-18T= (n.2352-18T=) c.2139-18T= (n.2139-18T=) | |
| 11 | g.121558573dup | CA2517974183 | SORL1 | c.2664-18dup (n.2664-18dup) n.392-18dup n.370-18dup c.1125-18dup (n.1125-18dup) c.24-18dup (n.24-18dup) c.2352-18dup (n.2352-18dup) c.2139-18dup (n.2139-18dup) | |
| 11 | g.121558575T>C | CA6329035 | SORL1 | c.2664-16T>C (n.2664-16T>C) n.392-16T>C n.370-16T>C c.1125-16T>C (n.1125-16T>C) c.24-16T>C (n.24-16T>C) c.2352-16T>C (n.2352-16T>C) c.2139-16T>C (n.2139-16T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.121558575T= | CA2004919273 | SORL1 | c.2664-16T= (n.2664-16T=) n.392-16T= n.370-16T= c.1125-16T= (n.1125-16T=) c.24-16T= (n.24-16T=) c.2352-16T= (n.2352-16T=) c.2139-16T= (n.2139-16T=) | |
| 11 | g.121558576C>A | CA2004919275 | SORL1 | c.2664-15C>A (n.2664-15C>A) n.392-15C>A n.370-15C>A c.1125-15C>A (n.1125-15C>A) c.24-15C>A (n.24-15C>A) c.2352-15C>A (n.2352-15C>A) c.2139-15C>A (n.2139-15C>A) | dbSNP |
| 11 | g.121558576C= | CA2004919274 | SORL1 | c.2664-15C= (n.2664-15C=) n.392-15C= n.370-15C= c.1125-15C= (n.1125-15C=) c.24-15C= (n.24-15C=) c.2352-15C= (n.2352-15C=) c.2139-15C= (n.2139-15C=) | |
| 11 | g.121558576C>T | CA2004919276 | SORL1 | c.2664-15C>T (n.2664-15C>T) n.392-15C>T n.370-15C>T c.1125-15C>T (n.1125-15C>T) c.24-15C>T (n.24-15C>T) c.2352-15C>T (n.2352-15C>T) c.2139-15C>T (n.2139-15C>T) | dbSNP gnomAD v4 |
| 11 | g.121558577C>A | CA602580593 | SORL1 | c.2664-14C>A (n.2664-14C>A) n.392-14C>A n.370-14C>A c.1125-14C>A (n.1125-14C>A) c.24-14C>A (n.24-14C>A) c.2352-14C>A (n.2352-14C>A) c.2139-14C>A (n.2139-14C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121558577C= | CA2004919277 | SORL1 | c.2664-14C= (n.2664-14C=) n.392-14C= n.370-14C= c.1125-14C= (n.1125-14C=) c.24-14C= (n.24-14C=) c.2352-14C= (n.2352-14C=) c.2139-14C= (n.2139-14C=) | |
| 11 | g.121558577C>G | CA942939891 | SORL1 | c.2664-14C>G (n.2664-14C>G) n.392-14C>G n.370-14C>G c.1125-14C>G (n.1125-14C>G) c.24-14C>G (n.24-14C>G) c.2352-14C>G (n.2352-14C>G) c.2139-14C>G (n.2139-14C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.121558577C>T | CA602580594 | SORL1 | c.2664-14C>T (n.2664-14C>T) n.392-14C>T n.370-14C>T c.1125-14C>T (n.1125-14C>T) c.24-14C>T (n.24-14C>T) c.2352-14C>T (n.2352-14C>T) c.2139-14C>T (n.2139-14C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.121558580A= | CA2004919278 | SORL1 | c.2664-11A= (n.2664-11A=) n.392-11A= n.370-11A= c.1125-11A= (n.1125-11A=) c.24-11A= (n.24-11A=) c.2352-11A= (n.2352-11A=) c.2139-11A= (n.2139-11A=) | |
| 11 | g.121558580A>C | CA2616497937 | SORL1 | c.2664-11A>C (n.2664-11A>C) n.392-11A>C n.370-11A>C c.1125-11A>C (n.1125-11A>C) c.24-11A>C (n.24-11A>C) c.2352-11A>C (n.2352-11A>C) c.2139-11A>C (n.2139-11A>C) | gnomAD v4 |
| 11 | g.121558580A>G | CA229902681 | SORL1 | c.2664-11A>G (n.2664-11A>G) n.392-11A>G n.370-11A>G c.1125-11A>G (n.1125-11A>G) c.24-11A>G (n.24-11A>G) c.2352-11A>G (n.2352-11A>G) c.2139-11A>G (n.2139-11A>G) | ClinVar dbSNP |
| 11 | g.121558582T>A | CA2004919280 | SORL1 | c.2664-9T>A (n.2664-9T>A) n.392-9T>A n.370-9T>A c.1125-9T>A (n.1125-9T>A) c.24-9T>A (n.24-9T>A) c.2352-9T>A (n.2352-9T>A) c.2139-9T>A (n.2139-9T>A) | dbSNP |
| 11 | g.121558582T= | CA2004919279 | SORL1 | c.2664-9T= (n.2664-9T=) n.392-9T= n.370-9T= c.1125-9T= (n.1125-9T=) c.24-9T= (n.24-9T=) c.2352-9T= (n.2352-9T=) c.2139-9T= (n.2139-9T=) | |
| 11 | g.121558584T>A | CA2616497939 | SORL1 | c.2664-7T>A (n.2664-7T>A) n.392-7T>A n.370-7T>A c.1125-7T>A (n.1125-7T>A) c.24-7T>A (n.24-7T>A) c.2352-7T>A (n.2352-7T>A) c.2139-7T>A (n.2139-7T>A) | gnomAD v4 |
| 11 | g.121558584T>C | CA2616497940 | SORL1 | c.2664-7T>C (n.2664-7T>C) n.392-7T>C n.370-7T>C c.1125-7T>C (n.1125-7T>C) c.24-7T>C (n.24-7T>C) c.2352-7T>C (n.2352-7T>C) c.2139-7T>C (n.2139-7T>C) | gnomAD v4 |
| 11 | g.121558585C= | CA2004919281 | SORL1 | c.2664-6C= (n.2664-6C=) n.392-6C= n.370-6C= c.1125-6C= (n.1125-6C=) c.24-6C= (n.24-6C=) c.2352-6C= (n.2352-6C=) c.2139-6C= (n.2139-6C=) | |
| 11 | g.121558585C>T | CA6329036 | SORL1 | c.2664-6C>T (n.2664-6C>T) n.392-6C>T n.370-6C>T c.1125-6C>T (n.1125-6C>T) c.24-6C>T (n.24-6C>T) c.2352-6C>T (n.2352-6C>T) c.2139-6C>T (n.2139-6C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121558586G>A | CA6329037 | SORL1 | c.2664-5G>A (n.2664-5G>A) n.392-5G>A n.370-5G>A c.1125-5G>A (n.1125-5G>A) c.24-5G>A (n.24-5G>A) c.2352-5G>A (n.2352-5G>A) c.2139-5G>A (n.2139-5G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121558586G>C | CA602580595 | SORL1 | c.2664-5G>C (n.2664-5G>C) n.392-5G>C n.370-5G>C c.1125-5G>C (n.1125-5G>C) c.24-5G>C (n.24-5G>C) c.2352-5G>C (n.2352-5G>C) c.2139-5G>C (n.2139-5G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.121558586G= | CA2004919282 | SORL1 | c.2664-5G= (n.2664-5G=) n.392-5G= n.370-5G= c.1125-5G= (n.1125-5G=) c.24-5G= (n.24-5G=) c.2352-5G= (n.2352-5G=) c.2139-5G= (n.2139-5G=) | |
| 11 | g.121558587C>T | CA2697559050 | SORL1 | c.2664-4C>T (n.2664-4C>T) n.392-4C>T n.370-4C>T c.1125-4C>T (n.1125-4C>T) c.24-4C>T (n.24-4C>T) c.2352-4C>T (n.2352-4C>T) c.2139-4C>T (n.2139-4C>T) | ClinVar |
| 11 | g.121558589A= | CA2004919283 | SORL1 | c.2664-2A= (n.2664-2A=) n.392-2A= n.370-2A= c.1125-2A= (n.1125-2A=) c.24-2A= (n.24-2A=) c.2352-2A= (n.2352-2A=) c.2139-2A= (n.2139-2A=) | |
| 11 | g.121558589A>C | CA383035551 | SORL1 | c.2664-2A>C (n.2664-2A>C) n.392-2A>C n.370-2A>C c.1125-2A>C (n.1125-2A>C) c.24-2A>C (n.24-2A>C) c.2352-2A>C (n.2352-2A>C) c.2139-2A>C (n.2139-2A>C) | |
| 11 | g.121558589A>G | CA383035554 | SORL1 | c.2664-2A>G (n.2664-2A>G) n.392-2A>G n.370-2A>G c.1125-2A>G (n.1125-2A>G) c.24-2A>G (n.24-2A>G) c.2352-2A>G (n.2352-2A>G) c.2139-2A>G (n.2139-2A>G) | dbSNP |
| 11 | g.121558589A>T | CA383035553 | SORL1 | c.2664-2A>T (n.2664-2A>T) n.392-2A>T n.370-2A>T c.1125-2A>T (n.1125-2A>T) c.24-2A>T (n.24-2A>T) c.2352-2A>T (n.2352-2A>T) c.2139-2A>T (n.2139-2A>T) | |
| 11 | g.121558590G>A | CA383035556 | SORL1 | c.2664-1G>A (n.2664-1G>A) n.392-1G>A n.370-1G>A c.1125-1G>A (n.1125-1G>A) c.24-1G>A (n.24-1G>A) c.2352-1G>A (n.2352-1G>A) c.2139-1G>A (n.2139-1G>A) | dbSNP |
| 11 | g.121558590G>C | CA383035557 | SORL1 | c.2664-1G>C (n.2664-1G>C) n.392-1G>C n.370-1G>C c.1125-1G>C (n.1125-1G>C) c.24-1G>C (n.24-1G>C) c.2352-1G>C (n.2352-1G>C) c.2139-1G>C (n.2139-1G>C) | |
| 11 | g.121558590G= | CA2004919284 | SORL1 | c.2664-1G= (n.2664-1G=) n.392-1G= n.370-1G= c.1125-1G= (n.1125-1G=) c.24-1G= (n.24-1G=) c.2352-1G= (n.2352-1G=) c.2139-1G= (n.2139-1G=) | |
| 11 | g.121558590G>T | CA383035559 | SORL1 | c.2664-1G>T (n.2664-1G>T) n.392-1G>T n.370-1G>T c.1125-1G>T (n.1125-1G>T) c.24-1G>T (n.24-1G>T) c.2352-1G>T (n.2352-1G>T) c.2139-1G>T (n.2139-1G>T) | COSMIC |
| 11 | g.121558591G>A | CA477218866 | SORL1 | c.2664G>A (p.Gly888=) n.392G>A n.370G>A c.1125G>A (p.Gly375=) c.24G>A (p.Arg8=) c.2352G>A (p.Gly784=) c.2139G>A (p.Gly713=) | |
| 11 | g.121558591G>C | CA477218867 | SORL1 | c.2664G>C (p.Gly888=) n.392G>C n.370G>C c.1125G>C (p.Gly375=) c.24G>C (p.Arg8Ser) c.2352G>C (p.Gly784=) c.2139G>C (p.Gly713=) | |
| 11 | g.121558591G>T | CA477218868 | SORL1 | c.2664G>T (p.Gly888=) n.392G>T n.370G>T c.1125G>T (p.Gly375=) c.24G>T (p.Arg8Ser) c.2352G>T (p.Gly784=) c.2139G>T (p.Gly713=) | |
| 11 | g.121558592G>A | CA383035561 | SORL1 | c.2665G>A (p.Val889Met) n.393G>A n.371G>A c.1126G>A (p.Val376Met) c.25G>A (p.Val9Met) c.2353G>A (p.Val785Met) c.2140G>A (p.Val714Met) | dbSNP gnomAD v4 COSMIC |
| 11 | g.121558592G>C | CA383035563 | SORL1 | c.2665G>C (p.Val889Leu) n.393G>C n.371G>C c.1126G>C (p.Val376Leu) c.25G>C (p.Val9Leu) c.2353G>C (p.Val785Leu) c.2140G>C (p.Val714Leu) | |
| 11 | g.121558592G= | CA2004919285 | SORL1 | c.2665G= (p.Val889=) n.393G= n.371G= c.1126G= (p.Val376=) c.25G= (p.Val9=) c.2353G= (p.Val785=) c.2140G= (p.Val714=) | |
| 11 | g.121558592G>T | CA6329038 | SORL1 | c.2665G>T (p.Val889Leu) n.393G>T n.371G>T c.1126G>T (p.Val376Leu) c.25G>T (p.Val9Leu) c.2353G>T (p.Val785Leu) c.2140G>T (p.Val714Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.121558593T>A | CA383035565 | SORL1 | c.2666T>A (p.Val889Glu) n.394T>A n.372T>A c.1127T>A (p.Val376Glu) c.26T>A (p.Val9Glu) c.2354T>A (p.Val785Glu) c.2141T>A (p.Val714Glu) | |
| 11 | g.121558593T>C | CA383035567 | SORL1 | c.2666T>C (p.Val889Ala) n.394T>C n.372T>C c.1127T>C (p.Val376Ala) c.26T>C (p.Val9Ala) c.2354T>C (p.Val785Ala) c.2141T>C (p.Val714Ala) | |
| 11 | g.121558593T>G | CA383035568 | SORL1 | c.2666T>G (p.Val889Gly) n.394T>G n.372T>G c.1127T>G (p.Val376Gly) c.26T>G (p.Val9Gly) c.2354T>G (p.Val785Gly) c.2141T>G (p.Val714Gly) | |
| 11 | g.121558594G>A | CA477218869 | SORL1 | c.2667G>A (p.Val889=) n.395G>A n.373G>A c.1128G>A (p.Val376=) c.27G>A (p.Val9=) c.2355G>A (p.Val785=) c.2142G>A (p.Val714=) | |
| 11 | g.121558594G>C | CA477218870 | SORL1 | c.2667G>C (p.Val889=) n.395G>C n.373G>C c.1128G>C (p.Val376=) c.27G>C (p.Val9=) c.2355G>C (p.Val785=) c.2142G>C (p.Val714=) | |
| 11 | g.121558594G>T | CA477218871 | SORL1 | c.2667G>T (p.Val889=) n.395G>T n.373G>T c.1128G>T (p.Val376=) c.27G>T (p.Val9=) c.2355G>T (p.Val785=) c.2142G>T (p.Val714=) | |
| 11 | g.121558595A= | CA2004919286 | SORL1 | c.2668A= (p.Met890=) n.396A= n.374A= c.1129A= (p.Met377=) c.28A= (p.Met10=) c.2356A= (p.Met786=) c.2143A= (p.Met715=) | |
| 11 | g.121558595A>C | CA383035570 | SORL1 | c.2668A>C (p.Met890Leu) n.396A>C n.374A>C c.1129A>C (p.Met377Leu) c.28A>C (p.Met10Leu) c.2356A>C (p.Met786Leu) c.2143A>C (p.Met715Leu) | |
| 11 | g.121558595A>G | CA6329039 | SORL1 | c.2668A>G (p.Met890Val) n.396A>G n.374A>G c.1129A>G (p.Met377Val) c.28A>G (p.Met10Val) c.2356A>G (p.Met786Val) c.2143A>G (p.Met715Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.121558595A>T | CA383035572 | SORL1 | c.2668A>T (p.Met890Leu) n.396A>T n.374A>T c.1129A>T (p.Met377Leu) c.28A>T (p.Met10Leu) c.2356A>T (p.Met786Leu) c.2143A>T (p.Met715Leu) | |
| 11 | g.121558596T>A | CA383035577 | SORL1 | c.2669T>A (p.Met890Lys) n.397T>A n.375T>A c.1130T>A (p.Met377Lys) c.29T>A (p.Met10Lys) c.2357T>A (p.Met786Lys) c.2144T>A (p.Met715Lys) | |
| 11 | g.121558596T>C | CA383035574 | SORL1 | c.2669T>C (p.Met890Thr) n.397T>C n.375T>C c.1130T>C (p.Met377Thr) c.29T>C (p.Met10Thr) c.2357T>C (p.Met786Thr) c.2144T>C (p.Met715Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121558596T>G | CA383035576 | SORL1 | c.2669T>G (p.Met890Arg) n.397T>G n.375T>G c.1130T>G (p.Met377Arg) c.29T>G (p.Met10Arg) c.2357T>G (p.Met786Arg) c.2144T>G (p.Met715Arg) | |
| 11 | g.121558596T= | CA2004919287 | SORL1 | c.2669T= (p.Met890=) n.397T= n.375T= c.1130T= (p.Met377=) c.29T= (p.Met10=) c.2357T= (p.Met786=) c.2144T= (p.Met715=) | |
| 11 | g.121558597G>A | CA229902695 | SORL1 | c.2670G>A (p.Met890Ile) n.398G>A n.376G>A c.1131G>A (p.Met377Ile) c.30G>A (p.Met10Ile) c.2358G>A (p.Met786Ile) c.2145G>A (p.Met715Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121558597G>C | CA383035579 | SORL1 | c.2670G>C (p.Met890Ile) n.398G>C n.376G>C c.1131G>C (p.Met377Ile) c.30G>C (p.Met10Ile) c.2358G>C (p.Met786Ile) c.2145G>C (p.Met715Ile) | |
| 11 | g.121558597G= | CA2004919288 | SORL1 | c.2670G= (p.Met890=) n.398G= n.376G= c.1131G= (p.Met377=) c.30G= (p.Met10=) c.2358G= (p.Met786=) c.2145G= (p.Met715=) | |
| 11 | g.121558597G>T | CA383035581 | SORL1 | c.2670G>T (p.Met890Ile) n.398G>T n.376G>T c.1131G>T (p.Met377Ile) c.30G>T (p.Met10Ile) c.2358G>T (p.Met786Ile) c.2145G>T (p.Met715Ile) | |
| 11 | g.121558598T>A | CA383035583 | SORL1 | c.2671T>A (p.Phe891Ile) n.399T>A n.377T>A c.1132T>A (p.Phe378Ile) c.31T>A (p.Phe11Ile) c.2359T>A (p.Phe787Ile) c.2146T>A (p.Phe716Ile) | |
| 11 | g.121558598T>C | CA383035585 | SORL1 | c.2671T>C (p.Phe891Leu) n.399T>C n.377T>C c.1132T>C (p.Phe378Leu) c.31T>C (p.Phe11Leu) c.2359T>C (p.Phe787Leu) c.2146T>C (p.Phe716Leu) | |
| 11 | g.121558598T>G | CA383035586 | SORL1 | c.2671T>G (p.Phe891Val) n.399T>G n.377T>G c.1132T>G (p.Phe378Val) c.31T>G (p.Phe11Val) c.2359T>G (p.Phe787Val) c.2146T>G (p.Phe716Val) | |
| 11 | g.121558599T>A | CA383035588 | SORL1 | c.2672T>A (p.Phe891Tyr) n.400T>A n.378T>A c.1133T>A (p.Phe378Tyr) c.32T>A (p.Phe11Tyr) c.2360T>A (p.Phe787Tyr) c.2147T>A (p.Phe716Tyr) | |
| 11 | g.121558599T>C | CA383035589 | SORL1 | c.2672T>C (p.Phe891Ser) n.400T>C n.378T>C c.1133T>C (p.Phe378Ser) c.32T>C (p.Phe11Ser) c.2360T>C (p.Phe787Ser) c.2147T>C (p.Phe716Ser) | |
| 11 | g.121558599T>G | CA383035591 | SORL1 | c.2672T>G (p.Phe891Cys) n.400T>G n.378T>G c.1133T>G (p.Phe378Cys) c.32T>G (p.Phe11Cys) c.2360T>G (p.Phe787Cys) c.2147T>G (p.Phe716Cys) | |
| 11 | g.121558600C>A | CA383035592 | SORL1 | c.2673C>A (p.Phe891Leu) n.401C>A n.379C>A c.1134C>A (p.Phe378Leu) c.33C>A (p.Phe11Leu) c.2361C>A (p.Phe787Leu) c.2148C>A (p.Phe716Leu) | |
| 11 | g.121558600C>G | CA383035594 | SORL1 | c.2673C>G (p.Phe891Leu) n.401C>G n.379C>G c.1134C>G (p.Phe378Leu) c.33C>G (p.Phe11Leu) c.2361C>G (p.Phe787Leu) c.2148C>G (p.Phe716Leu) | gnomAD v4 |
| 11 | g.121558600C>T | CA477218872 | SORL1 | c.2673C>T (p.Phe891=) n.401C>T n.379C>T c.1134C>T (p.Phe378=) c.33C>T (p.Phe11=) c.2361C>T (p.Phe787=) c.2148C>T (p.Phe716=) | |
| 11 | g.121558601T>A | CA383035596 | SORL1 | c.2674T>A (p.Trp892Arg) n.402T>A n.380T>A c.1135T>A (p.Trp379Arg) c.34T>A (p.Trp12Arg) c.2362T>A (p.Trp788Arg) c.2149T>A (p.Trp717Arg) | |
| 11 | g.121558601T>C | CA383035599 | SORL1 | c.2674T>C (p.Trp892Arg) n.402T>C n.380T>C c.1135T>C (p.Trp379Arg) c.34T>C (p.Trp12Arg) c.2362T>C (p.Trp788Arg) c.2149T>C (p.Trp717Arg) | |
| 11 | g.121558601T>G | CA383035597 | SORL1 | c.2674T>G (p.Trp892Gly) n.402T>G n.380T>G c.1135T>G (p.Trp379Gly) c.34T>G (p.Trp12Gly) c.2362T>G (p.Trp788Gly) c.2149T>G (p.Trp717Gly) | |
| 11 | g.121558602G>A | CA383035601 | SORL1 | c.2675G>A (p.Trp892Ter) n.403G>A n.381G>A c.1136G>A (p.Trp379Ter) c.35G>A (p.Trp12Ter) c.2363G>A (p.Trp788Ter) c.2150G>A (p.Trp717Ter) | gnomAD v4 |
| 11 | g.121558602G>C | CA383035604 | SORL1 | c.2675G>C (p.Trp892Ser) n.403G>C n.381G>C c.1136G>C (p.Trp379Ser) c.35G>C (p.Trp12Ser) c.2363G>C (p.Trp788Ser) c.2150G>C (p.Trp717Ser) | |
| 11 | g.121558602G>T | CA383035603 | SORL1 | c.2675G>T (p.Trp892Leu) n.403G>T n.381G>T c.1136G>T (p.Trp379Leu) c.35G>T (p.Trp12Leu) c.2363G>T (p.Trp788Leu) c.2150G>T (p.Trp717Leu) | |
| 11 | g.121558603G>A | CA383035605 | SORL1 | c.2676G>A (p.Trp892Ter) n.404G>A n.382G>A c.1137G>A (p.Trp379Ter) c.36G>A (p.Trp12Ter) c.2364G>A (p.Trp788Ter) c.2151G>A (p.Trp717Ter) | |
| 11 | g.121558603G>C | CA383035608 | SORL1 | c.2676G>C (p.Trp892Cys) n.404G>C n.382G>C c.1137G>C (p.Trp379Cys) c.36G>C (p.Trp12Cys) c.2364G>C (p.Trp788Cys) c.2151G>C (p.Trp717Cys) | |
| 11 | g.121558603G>T | CA383035606 | SORL1 | c.2676G>T (p.Trp892Cys) n.404G>T n.382G>T c.1137G>T (p.Trp379Cys) c.36G>T (p.Trp12Cys) c.2364G>T (p.Trp788Cys) c.2151G>T (p.Trp717Cys) | |
| 11 | g.121558604A= | CA2004919289 | SORL1 | c.2677A= (p.Thr893=) n.405A= n.383A= c.1138A= (p.Thr380=) c.37A= (p.Thr13=) c.2365A= (p.Thr789=) c.2152A= (p.Thr718=) | |
| 11 | g.121558604A>C | CA383035610 | SORL1 | c.2677A>C (p.Thr893Pro) n.405A>C n.383A>C c.1138A>C (p.Thr380Pro) c.37A>C (p.Thr13Pro) c.2365A>C (p.Thr789Pro) c.2152A>C (p.Thr718Pro) | |
| 11 | g.121558604A>G | CA383035611 | SORL1 | c.2677A>G (p.Thr893Ala) n.405A>G n.383A>G c.1138A>G (p.Thr380Ala) c.37A>G (p.Thr13Ala) c.2365A>G (p.Thr789Ala) c.2152A>G (p.Thr718Ala) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.121558604A>T | CA383035612 | SORL1 | c.2677A>T (p.Thr893Ser) n.405A>T n.383A>T c.1138A>T (p.Thr380Ser) c.37A>T (p.Thr13Ser) c.2365A>T (p.Thr789Ser) c.2152A>T (p.Thr718Ser) | |
| 11 | g.121558605C>A | CA383035615 | SORL1 | c.2678C>A (p.Thr893Lys) n.406C>A n.384C>A c.1139C>A (p.Thr380Lys) c.38C>A (p.Thr13Lys) c.2366C>A (p.Thr789Lys) c.2153C>A (p.Thr718Lys) | |
| 11 | g.121558605C= | CA2004919290 | SORL1 | c.2678C= (p.Thr893=) n.406C= n.384C= c.1139C= (p.Thr380=) c.38C= (p.Thr13=) c.2366C= (p.Thr789=) c.2153C= (p.Thr718=) | |
| 11 | g.121558605C>G | CA383035616 | SORL1 | c.2678C>G (p.Thr893Arg) n.406C>G n.384C>G c.1139C>G (p.Thr380Arg) c.38C>G (p.Thr13Arg) c.2366C>G (p.Thr789Arg) c.2153C>G (p.Thr718Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.121558605C>T | CA383035618 | SORL1 | c.2678C>T (p.Thr893Ile) n.406C>T n.384C>T c.1139C>T (p.Thr380Ile) c.38C>T (p.Thr13Ile) c.2366C>T (p.Thr789Ile) c.2153C>T (p.Thr718Ile) | |
| 11 | g.121558606A>C | CA477218873 | SORL1 | c.2679A>C (p.Thr893=) n.407A>C n.385A>C c.1140A>C (p.Thr380=) c.39A>C (p.Thr13=) c.2367A>C (p.Thr789=) c.2154A>C (p.Thr718=) | |
| 11 | g.121558606A>G | CA477218874 | SORL1 | c.2679A>G (p.Thr893=) n.407A>G n.385A>G c.1140A>G (p.Thr380=) c.39A>G (p.Thr13=) c.2367A>G (p.Thr789=) c.2154A>G (p.Thr718=) | |
| 11 | g.121558606A>T | CA477218875 | SORL1 | c.2679A>T (p.Thr893=) n.407A>T n.385A>T c.1140A>T (p.Thr380=) c.39A>T (p.Thr13=) c.2367A>T (p.Thr789=) c.2154A>T (p.Thr718=) | |
| 11 | g.121558607G>A | CA383035619 | SORL1 | c.2680G>A (p.Asp894Asn) n.408G>A n.386G>A c.1141G>A (p.Asp381Asn) c.40G>A (p.Asp14Asn) c.2368G>A (p.Asp790Asn) c.2155G>A (p.Asp719Asn) | |
| 11 | g.121558607G>C | CA383035620 | SORL1 | c.2680G>C (p.Asp894His) n.408G>C n.386G>C c.1141G>C (p.Asp381His) c.40G>C (p.Asp14His) c.2368G>C (p.Asp790His) c.2155G>C (p.Asp719His) | |
| 11 | g.121558607G>T | CA383035622 | SORL1 | c.2680G>T (p.Asp894Tyr) n.408G>T n.386G>T c.1141G>T (p.Asp381Tyr) c.40G>T (p.Asp14Tyr) c.2368G>T (p.Asp790Tyr) c.2155G>T (p.Asp719Tyr) | |
| 11 | g.121558608A= | CA2004919291 | SORL1 | c.2681A= (p.Asp894=) n.409A= n.387A= c.1142A= (p.Asp381=) c.41A= (p.Asp14=) c.2369A= (p.Asp790=) c.2156A= (p.Asp719=) | |
| 11 | g.121558608A>C | CA383035623 | SORL1 | c.2681A>C (p.Asp894Ala) n.409A>C n.387A>C c.1142A>C (p.Asp381Ala) c.41A>C (p.Asp14Ala) c.2369A>C (p.Asp790Ala) c.2156A>C (p.Asp719Ala) | |
| 11 | g.121558608A>G | CA383035624 | SORL1 | c.2681A>G (p.Asp894Gly) n.409A>G n.387A>G c.1142A>G (p.Asp381Gly) c.41A>G (p.Asp14Gly) c.2369A>G (p.Asp790Gly) c.2156A>G (p.Asp719Gly) | |
| 11 | g.121558608A>T | CA6329040 | SORL1 | c.2681A>T (p.Asp894Val) n.409A>T n.387A>T c.1142A>T (p.Asp381Val) c.41A>T (p.Asp14Val) c.2369A>T (p.Asp790Val) c.2156A>T (p.Asp719Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.121558609C>A | CA383035627 | SORL1 | c.2682C>A (p.Asp894Glu) n.410C>A n.388C>A c.1143C>A (p.Asp381Glu) c.42C>A (p.Asp14Glu) c.2370C>A (p.Asp790Glu) c.2157C>A (p.Asp719Glu) | |
| 11 | g.121558609C>G | CA383035626 | SORL1 | c.2682C>G (p.Asp894Glu) n.410C>G n.388C>G c.1143C>G (p.Asp381Glu) c.42C>G (p.Asp14Glu) c.2370C>G (p.Asp790Glu) c.2157C>G (p.Asp719Glu) | |
| 11 | g.121558609C>T | CA477218876 | SORL1 | c.2682C>T (p.Asp894=) n.410C>T n.388C>T c.1143C>T (p.Asp381=) c.42C>T (p.Asp14=) c.2370C>T (p.Asp790=) c.2157C>T (p.Asp719=) | COSMIC |
| 11 | g.121558610T>A | CA383035629 | SORL1 | c.2683T>A (p.Trp895Arg) n.411T>A n.389T>A c.1144T>A (p.Trp382Arg) c.43T>A (p.Trp15Arg) c.2371T>A (p.Trp791Arg) c.2158T>A (p.Trp720Arg) | |
| 11 | g.121558610T>C | CA383035630 | SORL1 | c.2683T>C (p.Trp895Arg) n.411T>C n.389T>C c.1144T>C (p.Trp382Arg) c.43T>C (p.Trp15Arg) c.2371T>C (p.Trp791Arg) c.2158T>C (p.Trp720Arg) | |
| 11 | g.121558610T>G | CA383035632 | SORL1 | c.2683T>G (p.Trp895Gly) n.411T>G n.389T>G c.1144T>G (p.Trp382Gly) c.43T>G (p.Trp15Gly) c.2371T>G (p.Trp791Gly) c.2158T>G (p.Trp720Gly) | gnomAD v4 |
| 11 | g.121558611G>A | CA383035634 | SORL1 | c.2684G>A (p.Trp895Ter) n.412G>A n.390G>A c.1145G>A (p.Trp382Ter) c.44G>A (p.Trp15Ter) c.2372G>A (p.Trp791Ter) c.2159G>A (p.Trp720Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.121558611G>C | CA383035636 | SORL1 | c.2684G>C (p.Trp895Ser) n.412G>C n.390G>C c.1145G>C (p.Trp382Ser) c.44G>C (p.Trp15Ser) c.2372G>C (p.Trp791Ser) c.2159G>C (p.Trp720Ser) | |
| 11 | g.121558611G= | CA2004919292 | SORL1 | c.2684G= (p.Trp895=) n.412G= n.390G= c.1145G= (p.Trp382=) c.44G= (p.Trp15=) c.2372G= (p.Trp791=) c.2159G= (p.Trp720=) | |
| 11 | g.121558611G>T | CA6329041 | SORL1 | c.2684G>T (p.Trp895Leu) n.412G>T n.390G>T c.1145G>T (p.Trp382Leu) c.44G>T (p.Trp15Leu) c.2372G>T (p.Trp791Leu) c.2159G>T (p.Trp720Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.121558614del | CA2575009479 | SORL1 | c.2687del (p.Gly896GlufsTer3) n.415del n.393del c.1148del (p.Gly383GlufsTer3) c.47del (p.Gly16GlufsTer3) c.2375del (p.Gly792GlufsTer3) c.2162del (p.Gly721GlufsTer3) | |
| 11 | g.121558612G>A | CA383035637 | SORL1 | c.2685G>A (p.Trp895Ter) n.413G>A n.391G>A c.1146G>A (p.Trp382Ter) c.45G>A (p.Trp15Ter) c.2373G>A (p.Trp791Ter) c.2160G>A (p.Trp720Ter) | |
| 11 | g.121558612G>C | CA383035639 | SORL1 | c.2685G>C (p.Trp895Cys) n.413G>C n.391G>C c.1146G>C (p.Trp382Cys) c.45G>C (p.Trp15Cys) c.2373G>C (p.Trp791Cys) c.2160G>C (p.Trp720Cys) | |
| 11 | g.121558612G>T | CA383035641 | SORL1 | c.2685G>T (p.Trp895Cys) n.413G>T n.391G>T c.1146G>T (p.Trp382Cys) c.45G>T (p.Trp15Cys) c.2373G>T (p.Trp791Cys) c.2160G>T (p.Trp720Cys) | |
| 11 | g.121558613G>A | CA383035643 | SORL1 | c.2686G>A (p.Gly896Arg) n.414G>A n.392G>A c.1147G>A (p.Gly383Arg) c.46G>A (p.Gly16Arg) c.2374G>A (p.Gly792Arg) c.2161G>A (p.Gly721Arg) | |
| 11 | g.121558613G>C | CA383035644 | SORL1 | c.2686G>C (p.Gly896Arg) n.414G>C n.392G>C c.1147G>C (p.Gly383Arg) c.46G>C (p.Gly16Arg) c.2374G>C (p.Gly792Arg) c.2161G>C (p.Gly721Arg) | |
| 11 | g.121558613G>T | CA383035645 | SORL1 | c.2686G>T (p.Gly896Ter) n.414G>T n.392G>T c.1147G>T (p.Gly383Ter) c.46G>T (p.Gly16Ter) c.2374G>T (p.Gly792Ter) c.2161G>T (p.Gly721Ter) | |
| 11 | g.121558614G>A | CA383035650 | SORL1 | c.2687G>A (p.Gly896Glu) n.415G>A n.393G>A c.1148G>A (p.Gly383Glu) c.47G>A (p.Gly16Glu) c.2375G>A (p.Gly792Glu) c.2162G>A (p.Gly721Glu) | |
| 11 | g.121558614G>C | CA383035649 | SORL1 | c.2687G>C (p.Gly896Ala) n.415G>C n.393G>C c.1148G>C (p.Gly383Ala) c.47G>C (p.Gly16Ala) c.2375G>C (p.Gly792Ala) c.2162G>C (p.Gly721Ala) | |
| 11 | g.121558614G>T | CA383035648 | SORL1 | c.2687G>T (p.Gly896Val) n.415G>T n.393G>T c.1148G>T (p.Gly383Val) c.47G>T (p.Gly16Val) c.2375G>T (p.Gly792Val) c.2162G>T (p.Gly721Val) | |
| 11 | g.121558615A= | CA2004919293 | SORL1 | c.2688A= (p.Gly896=) n.416A= n.394A= c.1149A= (p.Gly383=) c.48A= (p.Gly16=) c.2376A= (p.Gly792=) c.2163A= (p.Gly721=) | |
| 11 | g.121558615A>C | CA477218877 | SORL1 | c.2688A>C (p.Gly896=) n.416A>C n.394A>C c.1149A>C (p.Gly383=) c.48A>C (p.Gly16=) c.2376A>C (p.Gly792=) c.2163A>C (p.Gly721=) | |
| 11 | g.121558615A>G | CA477218878 | SORL1 | c.2688A>G (p.Gly896=) n.416A>G n.394A>G c.1149A>G (p.Gly383=) c.48A>G (p.Gly16=) c.2376A>G (p.Gly792=) c.2163A>G (p.Gly721=) | |
| 11 | g.121558615A>T | CA6329042 | SORL1 | c.2688A>T (p.Gly896=) n.416A>T n.394A>T c.1149A>T (p.Gly383=) c.48A>T (p.Gly16=) c.2376A>T (p.Gly792=) c.2163A>T (p.Gly721=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.121558616G>A | CA383035652 | SORL1 | c.2689G>A (p.Asp897Asn) n.417G>A n.395G>A c.1150G>A (p.Asp384Asn) c.49G>A (p.Asp17Asn) c.2377G>A (p.Asp793Asn) c.2164G>A (p.Asp722Asn) | |
| 11 | g.121558616G>C | CA383035654 | SORL1 | c.2689G>C (p.Asp897His) n.417G>C n.395G>C c.1150G>C (p.Asp384His) c.49G>C (p.Asp17His) c.2377G>C (p.Asp793His) c.2164G>C (p.Asp722His) | |
| 11 | g.121558616G>T | CA383035656 | SORL1 | c.2689G>T (p.Asp897Tyr) n.417G>T n.395G>T c.1150G>T (p.Asp384Tyr) c.49G>T (p.Asp17Tyr) c.2377G>T (p.Asp793Tyr) c.2164G>T (p.Asp722Tyr) | |
| 11 | g.121558617A>C | CA383035657 | SORL1 | c.2690A>C (p.Asp897Ala) n.418A>C n.396A>C c.1151A>C (p.Asp384Ala) c.50A>C (p.Asp17Ala) c.2378A>C (p.Asp793Ala) c.2165A>C (p.Asp722Ala) | |
| 11 | g.121558617A>G | CA383035659 | SORL1 | c.2690A>G (p.Asp897Gly) n.418A>G n.396A>G c.1151A>G (p.Asp384Gly) c.50A>G (p.Asp17Gly) c.2378A>G (p.Asp793Gly) c.2165A>G (p.Asp722Gly) | |
| 11 | g.121558617A>T | CA383035661 | SORL1 | c.2690A>T (p.Asp897Val) n.418A>T n.396A>T c.1151A>T (p.Asp384Val) c.50A>T (p.Asp17Val) c.2378A>T (p.Asp793Val) c.2165A>T (p.Asp722Val) | |
| 11 | g.121558618C>A | CA383035666 | SORL1 | c.2691C>A (p.Asp897Glu) n.419C>A n.397C>A c.1152C>A (p.Asp384Glu) c.51C>A (p.Asp17Glu) c.2379C>A (p.Asp793Glu) c.2166C>A (p.Asp722Glu) | |
| 11 | g.121558618C= | CA2004919294 | SORL1 | c.2691C= (p.Asp897=) n.419C= n.397C= c.1152C= (p.Asp384=) c.51C= (p.Asp17=) c.2379C= (p.Asp793=) c.2166C= (p.Asp722=) | |
| 11 | g.121558618C>G | CA383035663 | SORL1 | c.2691C>G (p.Asp897Glu) n.419C>G n.397C>G c.1152C>G (p.Asp384Glu) c.51C>G (p.Asp17Glu) c.2379C>G (p.Asp793Glu) c.2166C>G (p.Asp722Glu) | |
| 11 | g.121558618C>T | CA6329043 | SORL1 | c.2691C>T (p.Asp897=) n.419C>T n.397C>T c.1152C>T (p.Asp384=) c.51C>T (p.Asp17=) c.2379C>T (p.Asp793=) c.2166C>T (p.Asp722=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121558619C>A | CA383035667 | SORL1 | c.2692C>A (p.Leu898Met) n.420C>A n.398C>A c.1153C>A (p.Leu385Met) c.52C>A (p.Leu18Met) c.2380C>A (p.Leu794Met) c.2167C>A (p.Leu723Met) | |
| 11 | g.121558619C= | CA2004919295 | SORL1 | c.2692C= (p.Leu898=) n.420C= n.398C= c.1153C= (p.Leu385=) c.52C= (p.Leu18=) c.2380C= (p.Leu794=) c.2167C= (p.Leu723=) | |
| 11 | g.121558619C>G | CA229902720 | SORL1 | c.2692C>G (p.Leu898Val) n.420C>G n.398C>G c.1153C>G (p.Leu385Val) c.52C>G (p.Leu18Val) c.2380C>G (p.Leu794Val) c.2167C>G (p.Leu723Val) | dbSNP gnomAD v4 |
| 11 | g.121558619C>T | CA477218879 | SORL1 | c.2692C>T (p.Leu898=) n.420C>T n.398C>T c.1153C>T (p.Leu385=) c.52C>T (p.Leu18=) c.2380C>T (p.Leu794=) c.2167C>T (p.Leu723=) | |
| 11 | g.121558620T>A | CA383035670 | SORL1 | c.2693T>A (p.Leu898Gln) n.421T>A n.399T>A c.1154T>A (p.Leu385Gln) c.53T>A (p.Leu18Gln) c.2381T>A (p.Leu794Gln) c.2168T>A (p.Leu723Gln) | gnomAD v4 |
| 11 | g.121558620T>C | CA383035671 | SORL1 | c.2693T>C (p.Leu898Pro) n.421T>C n.399T>C c.1154T>C (p.Leu385Pro) c.53T>C (p.Leu18Pro) c.2381T>C (p.Leu794Pro) c.2168T>C (p.Leu723Pro) | |
| 11 | g.121558620T>G | CA383035673 | SORL1 | c.2693T>G (p.Leu898Arg) n.421T>G n.399T>G c.1154T>G (p.Leu385Arg) c.53T>G (p.Leu18Arg) c.2381T>G (p.Leu794Arg) c.2168T>G (p.Leu723Arg) | |
| 11 | g.121558621G>A | CA477218880 | SORL1 | c.2694G>A (p.Leu898=) n.422G>A n.400G>A c.1155G>A (p.Leu385=) c.54G>A (p.Leu18=) c.2382G>A (p.Leu794=) c.2169G>A (p.Leu723=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.121558621G>C | CA477218882 | SORL1 | c.2694G>C (p.Leu898=) n.422G>C n.400G>C c.1155G>C (p.Leu385=) c.54G>C (p.Leu18=) c.2382G>C (p.Leu794=) c.2169G>C (p.Leu723=) | |
| 11 | g.121558621G= | CA2004919296 | SORL1 | c.2694G= (p.Leu898=) n.422G= n.400G= c.1155G= (p.Leu385=) c.54G= (p.Leu18=) c.2382G= (p.Leu794=) c.2169G= (p.Leu723=) | |
| 11 | g.121558621G>T | CA477218881 | SORL1 | c.2694G>T (p.Leu898=) n.422G>T n.400G>T c.1155G>T (p.Leu385=) c.54G>T (p.Leu18=) c.2382G>T (p.Leu794=) c.2169G>T (p.Leu723=) | gnomAD v4 |
| 11 | g.121558622A>C | CA383035675 | SORL1 | c.2695A>C (p.Lys899Gln) n.423A>C n.401A>C c.1156A>C (p.Lys386Gln) c.55A>C (p.Lys19Gln) c.2383A>C (p.Lys795Gln) c.2170A>C (p.Lys724Gln) | |
| 11 | g.121558622A>G | CA383035678 | SORL1 | c.2695A>G (p.Lys899Glu) n.423A>G n.401A>G c.1156A>G (p.Lys386Glu) c.55A>G (p.Lys19Glu) c.2383A>G (p.Lys795Glu) c.2170A>G (p.Lys724Glu) | |
| 11 | g.121558622A>T | CA383035676 | SORL1 | c.2695A>T (p.Lys899Ter) n.423A>T n.401A>T c.1156A>T (p.Lys386Ter) c.55A>T (p.Lys19Ter) c.2383A>T (p.Lys795Ter) c.2170A>T (p.Lys724Ter) | |
| 11 | g.121558623del | CA2504740848 | SORL1 | c.2696del (p.Lys899SerfsTer22) n.424del n.402del c.1157del (p.Lys386SerfsTer22) c.56del (p.Lys19SerfsTer22) c.2384del (p.Lys795SerfsTer22) c.2171del (p.Lys724SerfsTer22) | |
| 11 | g.121558623A= | CA2004919297 | SORL1 | c.2696A= (p.Lys899=) n.424A= n.402A= c.1157A= (p.Lys386=) c.56A= (p.Lys19=) c.2384A= (p.Lys795=) c.2171A= (p.Lys724=) | |
| 11 | g.121558623A>C | CA383035679 | SORL1 | c.2696A>C (p.Lys899Thr) n.424A>C n.402A>C c.1157A>C (p.Lys386Thr) c.56A>C (p.Lys19Thr) c.2384A>C (p.Lys795Thr) c.2171A>C (p.Lys724Thr) | |
| 11 | g.121558623A>G | CA383035680 | SORL1 | c.2696A>G (p.Lys899Arg) n.424A>G n.402A>G c.1157A>G (p.Lys386Arg) c.56A>G (p.Lys19Arg) c.2384A>G (p.Lys795Arg) c.2171A>G (p.Lys724Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.121558623A>T | CA383035682 | SORL1 | c.2696A>T (p.Lys899Met) n.424A>T n.402A>T c.1157A>T (p.Lys386Met) c.56A>T (p.Lys19Met) c.2384A>T (p.Lys795Met) c.2171A>T (p.Lys724Met) | |
| 11 | g.121558624G>A | CA477218883 | SORL1 | c.2697G>A (p.Lys899=) n.425G>A n.403G>A c.1158G>A (p.Lys386=) c.57G>A (p.Lys19=) c.2385G>A (p.Lys795=) c.2172G>A (p.Lys724=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.121558624G>C | CA383035684 | SORL1 | c.2697G>C (p.Lys899Asn) n.425G>C n.403G>C c.1158G>C (p.Lys386Asn) c.57G>C (p.Lys19Asn) c.2385G>C (p.Lys795Asn) c.2172G>C (p.Lys724Asn) | |
| 11 | g.121558624G= | CA2004919298 | SORL1 | c.2697G= (p.Lys899=) n.425G= n.403G= c.1158G= (p.Lys386=) c.57G= (p.Lys19=) c.2385G= (p.Lys795=) c.2172G= (p.Lys724=) | |
| 11 | g.121558624G>T | CA383035685 | SORL1 | c.2697G>T (p.Lys899Asn) n.425G>T n.403G>T c.1158G>T (p.Lys386Asn) c.57G>T (p.Lys19Asn) c.2385G>T (p.Lys795Asn) c.2172G>T (p.Lys724Asn) | |
| 11 | g.121558625C>A | CA383035686 | SORL1 | c.2698C>A (p.Pro900Thr) n.426C>A n.404C>A c.1159C>A (p.Pro387Thr) c.58C>A (p.Pro20Thr) c.2386C>A (p.Pro796Thr) c.2173C>A (p.Pro725Thr) | |
| 11 | g.121558625C= | CA2004919299 | SORL1 | c.2698C= (p.Pro900=) n.426C= n.404C= c.1159C= (p.Pro387=) c.58C= (p.Pro20=) c.2386C= (p.Pro796=) c.2173C= (p.Pro725=) | |
| 11 | g.121558625C>G | CA383035688 | SORL1 | c.2698C>G (p.Pro900Ala) n.426C>G n.404C>G c.1159C>G (p.Pro387Ala) c.58C>G (p.Pro20Ala) c.2386C>G (p.Pro796Ala) c.2173C>G (p.Pro725Ala) | |
| 11 | g.121558625C>T | CA6329044 | SORL1 | c.2698C>T (p.Pro900Ser) n.426C>T n.404C>T c.1159C>T (p.Pro387Ser) c.58C>T (p.Pro20Ser) c.2386C>T (p.Pro796Ser) c.2173C>T (p.Pro725Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.121558626C>A | CA383035690 | SORL1 | c.2699C>A (p.Pro900His) n.427C>A n.405C>A c.1160C>A (p.Pro387His) c.59C>A (p.Pro20His) c.2387C>A (p.Pro796His) c.2174C>A (p.Pro725His) | |
| 11 | g.121558626C>G | CA383035692 | SORL1 | c.2699C>G (p.Pro900Arg) n.427C>G n.405C>G c.1160C>G (p.Pro387Arg) c.59C>G (p.Pro20Arg) c.2387C>G (p.Pro796Arg) c.2174C>G (p.Pro725Arg) | |
| 11 | g.121558626C>T | CA383035693 | SORL1 | c.2699C>T (p.Pro900Leu) n.427C>T n.405C>T c.1160C>T (p.Pro387Leu) c.59C>T (p.Pro20Leu) c.2387C>T (p.Pro796Leu) c.2174C>T (p.Pro725Leu) | ClinVar |
| 11 | g.121558627T>A | CA477218884 | SORL1 | c.2700T>A (p.Pro900=) n.428T>A n.406T>A c.1161T>A (p.Pro387=) c.60T>A (p.Pro20=) c.2388T>A (p.Pro796=) c.2175T>A (p.Pro725=) | |
| 11 | g.121558627T>C | CA477218885 | SORL1 | c.2700T>C (p.Pro900=) n.428T>C n.406T>C c.1161T>C (p.Pro387=) c.60T>C (p.Pro20=) c.2388T>C (p.Pro796=) c.2175T>C (p.Pro725=) | |
| 11 | g.121558627T>G | CA477218886 | SORL1 | c.2700T>G (p.Pro900=) n.428T>G n.406T>G c.1161T>G (p.Pro387=) c.60T>G (p.Pro20=) c.2388T>G (p.Pro796=) c.2175T>G (p.Pro725=) | |
| 11 | g.121558627_121558628delinsTG | CA2004919300 | SORL1 | c.2700_2701delinsTG (p.Pro900=) n.428_429delinsTG n.406_407delinsTG c.1161_1162delinsTG (p.Pro387=) c.60_61delinsTG (p.Pro20=) c.2388_2389delinsTG (p.Pro796=) c.2175_2176delinsTG (p.Pro725=) | |
| 11 | g.121558628G>A | CA383035696 | SORL1 | c.2701G>A (p.Gly901Arg) n.429G>A n.407G>A c.1162G>A (p.Gly388Arg) c.61G>A (p.Gly21Arg) c.2389G>A (p.Gly797Arg) c.2176G>A (p.Gly726Arg) | |
| 11 | g.121558628G>C | CA383035698 | SORL1 | c.2701G>C (p.Gly901Arg) n.429G>C n.407G>C c.1162G>C (p.Gly388Arg) c.61G>C (p.Gly21Arg) c.2389G>C (p.Gly797Arg) c.2176G>C (p.Gly726Arg) | |
| 11 | g.121558628G>T | CA383035699 | SORL1 | c.2701G>T (p.Gly901Trp) n.429G>T n.407G>T c.1162G>T (p.Gly388Trp) c.61G>T (p.Gly21Trp) c.2389G>T (p.Gly797Trp) c.2176G>T (p.Gly726Trp) | |
| 11 | g.121558630del | CA229902729 | SORL1 | c.2703del (p.Ile902PhefsTer19) n.431del n.409del c.1164del (p.Ile389PhefsTer19) c.63del (p.Ile22PhefsTer19) c.2391del (p.Ile798PhefsTer19) c.2178del (p.Ile727PhefsTer19) | dbSNP gnomAD v4 |
| 11 | g.121558629G>A | CA383035705 | SORL1 | c.2702G>A (p.Gly901Glu) n.430G>A n.408G>A c.1163G>A (p.Gly388Glu) c.62G>A (p.Gly21Glu) c.2390G>A (p.Gly797Glu) c.2177G>A (p.Gly726Glu) | |
| 11 | g.121558629G>C | CA383035701 | SORL1 | c.2702G>C (p.Gly901Ala) n.430G>C n.408G>C c.1163G>C (p.Gly388Ala) c.62G>C (p.Gly21Ala) c.2390G>C (p.Gly797Ala) c.2177G>C (p.Gly726Ala) | |
| 11 | g.121558629G>T | CA383035703 | SORL1 | c.2702G>T (p.Gly901Val) n.430G>T n.408G>T c.1163G>T (p.Gly388Val) c.62G>T (p.Gly21Val) c.2390G>T (p.Gly797Val) c.2177G>T (p.Gly726Val) | |
| 11 | g.121558630G>A | CA477218889 | SORL1 | c.2703G>A (p.Gly901=) n.431G>A n.409G>A c.1164G>A (p.Gly388=) c.63G>A (p.Gly21=) c.2391G>A (p.Gly797=) c.2178G>A (p.Gly726=) | |
| 11 | g.121558630G>C | CA477218888 | SORL1 | c.2703G>C (p.Gly901=) n.431G>C n.409G>C c.1164G>C (p.Gly388=) c.63G>C (p.Gly21=) c.2391G>C (p.Gly797=) c.2178G>C (p.Gly726=) | |
| 11 | g.121558630G= | CA2004919301 | SORL1 | c.2703G= (p.Gly901=) n.431G= n.409G= c.1164G= (p.Gly388=) c.63G= (p.Gly21=) c.2391G= (p.Gly797=) c.2178G= (p.Gly726=) | |
| 11 | g.121558630G>T | CA477218887 | SORL1 | c.2703G>T (p.Gly901=) n.431G>T n.409G>T c.1164G>T (p.Gly388=) c.63G>T (p.Gly21=) c.2391G>T (p.Gly797=) c.2178G>T (p.Gly726=) | dbSNP gnomAD v4 |
| 11 | g.121558631A= | CA2004919302 | SORL1 | c.2704A= (p.Ile902=) n.432A= n.410A= c.1165A= (p.Ile389=) c.64A= (p.Ile22=) c.2392A= (p.Ile798=) c.2179A= (p.Ile727=) | |
| 11 | g.121558631A>C | CA383035706 | SORL1 | c.2704A>C (p.Ile902Leu) n.432A>C n.410A>C c.1165A>C (p.Ile389Leu) c.64A>C (p.Ile22Leu) c.2392A>C (p.Ile798Leu) c.2179A>C (p.Ile727Leu) | |
| 11 | g.121558631A>G | CA383035707 | SORL1 | c.2704A>G (p.Ile902Val) n.432A>G n.410A>G c.1165A>G (p.Ile389Val) c.64A>G (p.Ile22Val) c.2392A>G (p.Ile798Val) c.2179A>G (p.Ile727Val) | |
| 11 | g.121558631A>T | CA383035709 | SORL1 | c.2704A>T (p.Ile902Phe) n.432A>T n.410A>T c.1165A>T (p.Ile389Phe) c.64A>T (p.Ile22Phe) c.2392A>T (p.Ile798Phe) c.2179A>T (p.Ile727Phe) | gnomAD v4 |
| 11 | g.121558632T>A | CA383035712 | SORL1 | c.2705T>A (p.Ile902Asn) n.433T>A n.411T>A c.1166T>A (p.Ile389Asn) c.65T>A (p.Ile22Asn) c.2393T>A (p.Ile798Asn) c.2180T>A (p.Ile727Asn) | |
| 11 | g.121558632T>C | CA383035713 | SORL1 | c.2705T>C (p.Ile902Thr) n.433T>C n.411T>C c.1166T>C (p.Ile389Thr) c.65T>C (p.Ile22Thr) c.2393T>C (p.Ile798Thr) c.2180T>C (p.Ile727Thr) | |
| 11 | g.121558632T>G | CA383035715 | SORL1 | c.2705T>G (p.Ile902Ser) n.433T>G n.411T>G c.1166T>G (p.Ile389Ser) c.65T>G (p.Ile22Ser) c.2393T>G (p.Ile798Ser) c.2180T>G (p.Ile727Ser) | |
| 11 | g.121558634dup | CA229902736 | SORL1 | c.2707dup (p.Tyr903LeufsTer16) n.435dup n.413dup c.1168dup (p.Tyr390LeufsTer16) c.67dup (p.Tyr23LeufsTer16) c.2395dup (p.Tyr799LeufsTer16) c.2182dup (p.Tyr728LeufsTer16) | dbSNP |
| 11 | g.121558633T>A | CA477218890 | SORL1 | c.2706T>A (p.Ile902=) n.434T>A n.412T>A c.1167T>A (p.Ile389=) c.66T>A (p.Ile22=) c.2394T>A (p.Ile798=) c.2181T>A (p.Ile727=) | |
| 11 | g.121558633T>C | CA477218891 | SORL1 | c.2706T>C (p.Ile902=) n.434T>C n.412T>C c.1167T>C (p.Ile389=) c.66T>C (p.Ile22=) c.2394T>C (p.Ile798=) c.2181T>C (p.Ile727=) | gnomAD v4 |
| 11 | g.121558633T>G | CA383035717 | SORL1 | c.2706T>G (p.Ile902Met) n.434T>G n.412T>G c.1167T>G (p.Ile389Met) c.66T>G (p.Ile22Met) c.2394T>G (p.Ile798Met) c.2181T>G (p.Ile727Met) | gnomAD v4 |
| 11 | g.121558634T>A | CA383035722 | SORL1 | c.2707T>A (p.Tyr903Asn) n.435T>A n.413T>A c.1168T>A (p.Tyr390Asn) c.67T>A (p.Tyr23Asn) c.2395T>A (p.Tyr799Asn) c.2182T>A (p.Tyr728Asn) | |
| 11 | g.121558634T>C | CA383035720 | SORL1 | c.2707T>C (p.Tyr903His) n.435T>C n.413T>C c.1168T>C (p.Tyr390His) c.67T>C (p.Tyr23His) c.2395T>C (p.Tyr799His) c.2182T>C (p.Tyr728His) | |
| 11 | g.121558634T>G | CA383035719 | SORL1 | c.2707T>G (p.Tyr903Asp) n.435T>G n.413T>G c.1168T>G (p.Tyr390Asp) c.67T>G (p.Tyr23Asp) c.2395T>G (p.Tyr799Asp) c.2182T>G (p.Tyr728Asp) | |
| 11 | g.121558635A>C | CA383035723 | SORL1 | c.2708A>C (p.Tyr903Ser) n.436A>C n.414A>C c.1169A>C (p.Tyr390Ser) c.68A>C (p.Tyr23Ser) c.2396A>C (p.Tyr799Ser) c.2183A>C (p.Tyr728Ser) | |
| 11 | g.121558635A>G | CA383035725 | SORL1 | c.2708A>G (p.Tyr903Cys) n.436A>G n.414A>G c.1169A>G (p.Tyr390Cys) c.68A>G (p.Tyr23Cys) c.2396A>G (p.Tyr799Cys) c.2183A>G (p.Tyr728Cys) | gnomAD v4 |
| 11 | g.121558635A>T | CA383035727 | SORL1 | c.2708A>T (p.Tyr903Phe) n.436A>T n.414A>T c.1169A>T (p.Tyr390Phe) c.68A>T (p.Tyr23Phe) c.2396A>T (p.Tyr799Phe) c.2183A>T (p.Tyr728Phe) | |
| 11 | g.121558636T>A | CA383035728 | SORL1 | c.2709T>A (p.Tyr903Ter) n.437T>A n.415T>A c.1170T>A (p.Tyr390Ter) c.69T>A (p.Tyr23Ter) c.2397T>A (p.Tyr799Ter) c.2184T>A (p.Tyr728Ter) | |
| 11 | g.121558636T>C | CA477218892 | SORL1 | c.2709T>C (p.Tyr903=) n.437T>C n.415T>C c.1170T>C (p.Tyr390=) c.69T>C (p.Tyr23=) c.2397T>C (p.Tyr799=) c.2184T>C (p.Tyr728=) | |
| 11 | g.121558636T>G | CA383035730 | SORL1 | c.2709T>G (p.Tyr903Ter) n.437T>G n.415T>G c.1170T>G (p.Tyr390Ter) c.69T>G (p.Tyr23Ter) c.2397T>G (p.Tyr799Ter) c.2184T>G (p.Tyr728Ter) | |
| 11 | g.121558637C>A | CA477218893 | SORL1 | c.2710C>A (p.Arg904=) n.438C>A n.416C>A c.1171C>A (p.Arg391=) c.70C>A (p.Arg24=) c.2398C>A (p.Arg800=) c.2185C>A (p.Arg729=) | |
| 11 | g.121558637C= | CA2004919303 | SORL1 | c.2710C= (p.Arg904=) n.438C= n.416C= c.1171C= (p.Arg391=) c.70C= (p.Arg24=) c.2398C= (p.Arg800=) c.2185C= (p.Arg729=) | |
| 11 | g.121558637C>G | CA383035732 | SORL1 | c.2710C>G (p.Arg904Gly) n.438C>G n.416C>G c.1171C>G (p.Arg391Gly) c.70C>G (p.Arg24Gly) c.2398C>G (p.Arg800Gly) c.2185C>G (p.Arg729Gly) | |
| 11 | g.121558637C>T | CA6329045 | SORL1 | c.2710C>T (p.Arg904Trp) n.438C>T n.416C>T c.1171C>T (p.Arg391Trp) c.70C>T (p.Arg24Trp) c.2398C>T (p.Arg800Trp) c.2185C>T (p.Arg729Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.121558638G>A | CA6329046 | SORL1 | c.2711G>A (p.Arg904Gln) n.439G>A n.417G>A c.1172G>A (p.Arg391Gln) c.71G>A (p.Arg24Gln) c.2399G>A (p.Arg800Gln) c.2186G>A (p.Arg729Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121558638G>C | CA383035735 | SORL1 | c.2711G>C (p.Arg904Pro) n.439G>C n.417G>C c.1172G>C (p.Arg391Pro) c.71G>C (p.Arg24Pro) c.2399G>C (p.Arg800Pro) c.2186G>C (p.Arg729Pro) | |
| 11 | g.121558638G= | CA2004919304 | SORL1 | c.2711G= (p.Arg904=) n.439G= n.417G= c.1172G= (p.Arg391=) c.71G= (p.Arg24=) c.2399G= (p.Arg800=) c.2186G= (p.Arg729=) | |
| 11 | g.121558638G>T | CA383035737 | SORL1 | c.2711G>T (p.Arg904Leu) n.439G>T n.417G>T c.1172G>T (p.Arg391Leu) c.71G>T (p.Arg24Leu) c.2399G>T (p.Arg800Leu) c.2186G>T (p.Arg729Leu) | |
| 11 | g.121558639G>A | CA6329048 | SORL1 | c.2712G>A (p.Arg904=) n.440G>A n.418G>A c.1173G>A (p.Arg391=) c.72G>A (p.Arg24=) c.2400G>A (p.Arg800=) c.2187G>A (p.Arg729=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.121558639G>C | CA6329047 | SORL1 | c.2712G>C (p.Arg904=) n.440G>C n.418G>C c.1173G>C (p.Arg391=) c.72G>C (p.Arg24=) c.2400G>C (p.Arg800=) c.2187G>C (p.Arg729=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121558639G= | CA2004919305 | SORL1 | c.2712G= (p.Arg904=) n.440G= n.418G= c.1173G= (p.Arg391=) c.72G= (p.Arg24=) c.2400G= (p.Arg800=) c.2187G= (p.Arg729=) | |
| 11 | g.121558639G>T | CA477218894 | SORL1 | c.2712G>T (p.Arg904=) n.440G>T n.418G>T c.1173G>T (p.Arg391=) c.72G>T (p.Arg24=) c.2400G>T (p.Arg800=) c.2187G>T (p.Arg729=) | |
| 11 | g.121558640A>C | CA383035742 | SORL1 | c.2713A>C (p.Ser905Arg) n.441A>C n.419A>C c.1174A>C (p.Ser392Arg) c.73A>C (p.Ser25Arg) c.2401A>C (p.Ser801Arg) c.2188A>C (p.Ser730Arg) | |
| 11 | g.121558640A>G | CA383035743 | SORL1 | c.2713A>G (p.Ser905Gly) n.441A>G n.419A>G c.1174A>G (p.Ser392Gly) c.73A>G (p.Ser25Gly) c.2401A>G (p.Ser801Gly) c.2188A>G (p.Ser730Gly) | |
| 11 | g.121558640A>T | CA383035740 | SORL1 | c.2713A>T (p.Ser905Cys) n.441A>T n.419A>T c.1174A>T (p.Ser392Cys) c.73A>T (p.Ser25Cys) c.2401A>T (p.Ser801Cys) c.2188A>T (p.Ser730Cys) | |
| 11 | g.121558641G>A | CA229902759 | SORL1 | c.2714G>A (p.Ser905Asn) n.442G>A n.420G>A c.1175G>A (p.Ser392Asn) c.74G>A (p.Ser25Asn) c.2402G>A (p.Ser801Asn) c.2189G>A (p.Ser730Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.121558641G>C | CA383035746 | SORL1 | c.2714G>C (p.Ser905Thr) n.442G>C n.420G>C c.1175G>C (p.Ser392Thr) c.74G>C (p.Ser25Thr) c.2402G>C (p.Ser801Thr) c.2189G>C (p.Ser730Thr) | |
| 11 | g.121558641G= | CA2004919306 | SORL1 | c.2714G= (p.Ser905=) n.442G= n.420G= c.1175G= (p.Ser392=) c.74G= (p.Ser25=) c.2402G= (p.Ser801=) c.2189G= (p.Ser730=) | |
| 11 | g.121558641G>T | CA383035747 | SORL1 | c.2714G>T (p.Ser905Ile) n.442G>T n.420G>T c.1175G>T (p.Ser392Ile) c.74G>T (p.Ser25Ile) c.2402G>T (p.Ser801Ile) c.2189G>T (p.Ser730Ile) | |
| 11 | g.121558642C>A | CA383035749 | SORL1 | c.2715C>A (p.Ser905Arg) n.443C>A n.421C>A c.1176C>A (p.Ser392Arg) c.75C>A (p.Ser25Arg) c.2403C>A (p.Ser801Arg) c.2190C>A (p.Ser730Arg) | |
| 11 | g.121558642C>G | CA383035750 | SORL1 | c.2715C>G (p.Ser905Arg) n.443C>G n.421C>G c.1176C>G (p.Ser392Arg) c.75C>G (p.Ser25Arg) c.2403C>G (p.Ser801Arg) c.2190C>G (p.Ser730Arg) | |
| 11 | g.121558642C>T | CA477218895 | SORL1 | c.2715C>T (p.Ser905=) n.443C>T n.421C>T c.1176C>T (p.Ser392=) c.75C>T (p.Ser25=) c.2403C>T (p.Ser801=) c.2190C>T (p.Ser730=) | |
| 11 | g.121558643A= | CA2004919307 | SORL1 | c.2716A= (p.Asn906=) n.444A= n.422A= c.1177A= (p.Asn393=) c.76A= (p.Asn26=) c.2404A= (p.Asn802=) c.2191A= (p.Asn731=) | |
| 11 | g.121558643A>C | CA229902764 | SORL1 | c.2716A>C (p.Asn906His) n.444A>C n.422A>C c.1177A>C (p.Asn393His) c.76A>C (p.Asn26His) c.2404A>C (p.Asn802His) c.2191A>C (p.Asn731His) | dbSNP |
| 11 | g.121558643A>G | CA383035752 | SORL1 | c.2716A>G (p.Asn906Asp) n.444A>G n.422A>G c.1177A>G (p.Asn393Asp) c.76A>G (p.Asn26Asp) c.2404A>G (p.Asn802Asp) c.2191A>G (p.Asn731Asp) | gnomAD v4 |
| 11 | g.121558643A>T | CA383035751 | SORL1 | c.2716A>T (p.Asn906Tyr) n.444A>T n.422A>T c.1177A>T (p.Asn393Tyr) c.76A>T (p.Asn26Tyr) c.2404A>T (p.Asn802Tyr) c.2191A>T (p.Asn731Tyr) | |
| 11 | g.121558644A= | CA2004919308 | SORL1 | c.2717A= (p.Asn906=) n.445A= n.423A= c.1178A= (p.Asn393=) c.77A= (p.Asn26=) c.2405A= (p.Asn802=) c.2192A= (p.Asn731=) | |
| 11 | g.121558644A>C | CA383035754 | SORL1 | c.2717A>C (p.Asn906Thr) n.445A>C n.423A>C c.1178A>C (p.Asn393Thr) c.77A>C (p.Asn26Thr) c.2405A>C (p.Asn802Thr) c.2192A>C (p.Asn731Thr) | |
| 11 | g.121558644A>G | CA6329049 | SORL1 | c.2717A>G (p.Asn906Ser) n.445A>G n.423A>G c.1178A>G (p.Asn393Ser) c.77A>G (p.Asn26Ser) c.2405A>G (p.Asn802Ser) c.2192A>G (p.Asn731Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.121558644A>T | CA383035756 | SORL1 | c.2717A>T (p.Asn906Ile) n.445A>T n.423A>T c.1178A>T (p.Asn393Ile) c.77A>T (p.Asn26Ile) c.2405A>T (p.Asn802Ile) c.2192A>T (p.Asn731Ile) | |
| 11 | g.121558645T>A | CA383035758 | SORL1 | c.2718T>A (p.Asn906Lys) n.446T>A n.424T>A c.1179T>A (p.Asn393Lys) c.78T>A (p.Asn26Lys) c.2406T>A (p.Asn802Lys) c.2193T>A (p.Asn731Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121558645T>C | CA6329050 | SORL1 | c.2718T>C (p.Asn906=) n.446T>C n.424T>C c.1179T>C (p.Asn393=) c.78T>C (p.Asn26=) c.2406T>C (p.Asn802=) c.2193T>C (p.Asn731=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.121558645T>G | CA383035760 | SORL1 | c.2718T>G (p.Asn906Lys) n.446T>G n.424T>G c.1179T>G (p.Asn393Lys) c.78T>G (p.Asn26Lys) c.2406T>G (p.Asn802Lys) c.2193T>G (p.Asn731Lys) | |
| 11 | g.121558645T= | CA2004919309 | SORL1 | c.2718T= (p.Asn906=) n.446T= n.424T= c.1179T= (p.Asn393=) c.78T= (p.Asn26=) c.2406T= (p.Asn802=) c.2193T= (p.Asn731=) | |
| 11 | g.121558646A= | CA2004919310 | SORL1 | c.2719A= (p.Met907=) n.447A= n.425A= c.1180A= (p.Met394=) c.79A= (p.Met27=) c.2407A= (p.Met803=) c.2194A= (p.Met732=) | |
| 11 | g.121558646A>C | CA383035762 | SORL1 | c.2719A>C (p.Met907Leu) n.447A>C n.425A>C c.1180A>C (p.Met394Leu) c.79A>C (p.Met27Leu) c.2407A>C (p.Met803Leu) c.2194A>C (p.Met732Leu) | |
| 11 | g.121558646A>G | CA6329051 | SORL1 | c.2719A>G (p.Met907Val) n.447A>G n.425A>G c.1180A>G (p.Met394Val) c.79A>G (p.Met27Val) c.2407A>G (p.Met803Val) c.2194A>G (p.Met732Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121558646A>T | CA383035764 | SORL1 | c.2719A>T (p.Met907Leu) n.447A>T n.425A>T c.1180A>T (p.Met394Leu) c.79A>T (p.Met27Leu) c.2407A>T (p.Met803Leu) c.2194A>T (p.Met732Leu) | |
| 11 | g.121558647T>A | CA383035766 | SORL1 | c.2720T>A (p.Met907Lys) n.448T>A n.426T>A c.1181T>A (p.Met394Lys) c.80T>A (p.Met27Lys) c.2408T>A (p.Met803Lys) c.2195T>A (p.Met732Lys) | |
| 11 | g.121558647T>C | CA383035768 | SORL1 | c.2720T>C (p.Met907Thr) n.448T>C n.426T>C c.1181T>C (p.Met394Thr) c.80T>C (p.Met27Thr) c.2408T>C (p.Met803Thr) c.2195T>C (p.Met732Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121558647T>G | CA383035770 | SORL1 | c.2720T>G (p.Met907Arg) n.448T>G n.426T>G c.1181T>G (p.Met394Arg) c.80T>G (p.Met27Arg) c.2408T>G (p.Met803Arg) c.2195T>G (p.Met732Arg) | |
| 11 | g.121558647T= | CA2004919311 | SORL1 | c.2720T= (p.Met907=) n.448T= n.426T= c.1181T= (p.Met394=) c.80T= (p.Met27=) c.2408T= (p.Met803=) c.2195T= (p.Met732=) | |
| 11 | g.121558648G>A | CA383035771 | SORL1 | c.2721G>A (p.Met907Ile) n.449G>A n.427G>A c.1182G>A (p.Met394Ile) c.81G>A (p.Met27Ile) c.2409G>A (p.Met803Ile) c.2196G>A (p.Met732Ile) | |
| 11 | g.121558648G>C | CA383035772 | SORL1 | c.2721G>C (p.Met907Ile) n.449G>C n.427G>C c.1182G>C (p.Met394Ile) c.81G>C (p.Met27Ile) c.2409G>C (p.Met803Ile) c.2196G>C (p.Met732Ile) | |
| 11 | g.121558648G>T | CA383035774 | SORL1 | c.2721G>T (p.Met907Ile) n.449G>T n.427G>T c.1182G>T (p.Met394Ile) c.81G>T (p.Met27Ile) c.2409G>T (p.Met803Ile) c.2196G>T (p.Met732Ile) | |
| 11 | g.121558649G>A | CA383035776 | SORL1 | c.2722G>A (p.Asp908Asn) n.450G>A n.428G>A c.1183G>A (p.Asp395Asn) c.82G>A (p.Asp28Asn) c.2410G>A (p.Asp804Asn) c.2197G>A (p.Asp733Asn) | gnomAD v4 COSMIC |
| 11 | g.121558649G>C | CA383035778 | SORL1 | c.2722G>C (p.Asp908His) n.450G>C n.428G>C c.1183G>C (p.Asp395His) c.82G>C (p.Asp28His) c.2410G>C (p.Asp804His) c.2197G>C (p.Asp733His) | |
| 11 | g.121558649G>T | CA383035779 | SORL1 | c.2722G>T (p.Asp908Tyr) n.450G>T n.428G>T c.1183G>T (p.Asp395Tyr) c.82G>T (p.Asp28Tyr) c.2410G>T (p.Asp804Tyr) c.2197G>T (p.Asp733Tyr) | |
| 11 | g.121558650A= | CA2004919312 | SORL1 | c.2723A= (p.Asp908=) n.451A= n.429A= c.1184A= (p.Asp395=) c.83A= (p.Asp28=) c.2411A= (p.Asp804=) c.2198A= (p.Asp733=) | |
| 11 | g.121558650A>C | CA383035781 | SORL1 | c.2723A>C (p.Asp908Ala) n.451A>C n.429A>C c.1184A>C (p.Asp395Ala) c.83A>C (p.Asp28Ala) c.2411A>C (p.Asp804Ala) c.2198A>C (p.Asp733Ala) | |
| 11 | g.121558650A>G | CA383035783 | SORL1 | c.2723A>G (p.Asp908Gly) n.451A>G n.429A>G c.1184A>G (p.Asp395Gly) c.83A>G (p.Asp28Gly) c.2411A>G (p.Asp804Gly) c.2198A>G (p.Asp733Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.121558650A>T | CA383035785 | SORL1 | c.2723A>T (p.Asp908Val) n.451A>T n.429A>T c.1184A>T (p.Asp395Val) c.83A>T (p.Asp28Val) c.2411A>T (p.Asp804Val) c.2198A>T (p.Asp733Val) | |
| 11 | g.121558651T>A | CA383035787 | SORL1 | c.2724T>A (p.Asp908Glu) n.452T>A n.430T>A c.1185T>A (p.Asp395Glu) c.84T>A (p.Asp28Glu) c.2412T>A (p.Asp804Glu) c.2199T>A (p.Asp733Glu) | |
| 11 | g.121558651T>C | CA477218896 | SORL1 | c.2724T>C (p.Asp908=) n.452T>C n.430T>C c.1185T>C (p.Asp395=) c.84T>C (p.Asp28=) c.2412T>C (p.Asp804=) c.2199T>C (p.Asp733=) | |
| 11 | g.121558651T>G | CA383035786 | SORL1 | c.2724T>G (p.Asp908Glu) n.452T>G n.430T>G c.1185T>G (p.Asp395Glu) c.84T>G (p.Asp28Glu) c.2412T>G (p.Asp804Glu) c.2199T>G (p.Asp733Glu) | |
| 11 | g.121558652G>A | CA229902792 | SORL1 | c.2725G>A (p.Gly909Ser) n.453G>A n.431G>A c.1186G>A (p.Gly396Ser) c.85G>A (p.Gly29Ser) c.2413G>A (p.Gly805Ser) c.2200G>A (p.Gly734Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121558652G>C | CA383035789 | SORL1 | c.2725G>C (p.Gly909Arg) n.453G>C n.431G>C c.1186G>C (p.Gly396Arg) c.85G>C (p.Gly29Arg) c.2413G>C (p.Gly805Arg) c.2200G>C (p.Gly734Arg) | |
| 11 | g.121558652G= | CA2004919313 | SORL1 | c.2725G= (p.Gly909=) n.453G= n.431G= c.1186G= (p.Gly396=) c.85G= (p.Gly29=) c.2413G= (p.Gly805=) c.2200G= (p.Gly734=) | |
| 11 | g.121558652G>T | CA383035791 | SORL1 | c.2725G>T (p.Gly909Cys) n.453G>T n.431G>T c.1186G>T (p.Gly396Cys) c.85G>T (p.Gly29Cys) c.2413G>T (p.Gly805Cys) c.2200G>T (p.Gly734Cys) | |
| 11 | g.121558653G>A | CA383035793 | SORL1 | c.2726G>A (p.Gly909Asp) n.454G>A n.432G>A c.1187G>A (p.Gly396Asp) c.86G>A (p.Gly29Asp) c.2414G>A (p.Gly805Asp) c.2201G>A (p.Gly734Asp) | |
| 11 | g.121558653G>C | CA383035794 | SORL1 | c.2726G>C (p.Gly909Ala) n.454G>C n.432G>C c.1187G>C (p.Gly396Ala) c.86G>C (p.Gly29Ala) c.2414G>C (p.Gly805Ala) c.2201G>C (p.Gly734Ala) | |
| 11 | g.121558653G>T | CA383035796 | SORL1 | c.2726G>T (p.Gly909Val) n.454G>T n.432G>T c.1187G>T (p.Gly396Val) c.86G>T (p.Gly29Val) c.2414G>T (p.Gly805Val) c.2201G>T (p.Gly734Val) | |
| 11 | g.121558654T>A | CA477218897 | SORL1 | c.2727T>A (p.Gly909=) n.455T>A n.433T>A c.1188T>A (p.Gly396=) c.87T>A (p.Gly29=) c.2415T>A (p.Gly805=) c.2202T>A (p.Gly734=) | |
| 11 | g.121558654T>C | CA477218898 | SORL1 | c.2727T>C (p.Gly909=) n.455T>C n.433T>C c.1188T>C (p.Gly396=) c.87T>C (p.Gly29=) c.2415T>C (p.Gly805=) c.2202T>C (p.Gly734=) | |
| 11 | g.121558654T>G | CA477218899 | SORL1 | c.2727T>G (p.Gly909=) n.455T>G n.433T>G c.1188T>G (p.Gly396=) c.87T>G (p.Gly29=) c.2415T>G (p.Gly805=) c.2202T>G (p.Gly734=) | dbSNP |
| 11 | g.121558654T= | CA2004919314 | SORL1 | c.2727T= (p.Gly909=) n.455T= n.433T= c.1188T= (p.Gly396=) c.87T= (p.Gly29=) c.2415T= (p.Gly805=) c.2202T= (p.Gly734=) | |
| 11 | g.121558655T>A | CA383035801 | SORL1 | c.2728T>A (p.Ser910Thr) n.456T>A n.434T>A c.1189T>A (p.Ser397Thr) c.88T>A (p.Ser30Thr) c.2416T>A (p.Ser806Thr) c.2203T>A (p.Ser735Thr) | |
| 11 | g.121558655T>C | CA383035800 | SORL1 | c.2728T>C (p.Ser910Pro) n.456T>C n.434T>C c.1189T>C (p.Ser397Pro) c.88T>C (p.Ser30Pro) c.2416T>C (p.Ser806Pro) c.2203T>C (p.Ser735Pro) | |
| 11 | g.121558655T>G | CA383035798 | SORL1 | c.2728T>G (p.Ser910Ala) n.456T>G n.434T>G c.1189T>G (p.Ser397Ala) c.88T>G (p.Ser30Ala) c.2416T>G (p.Ser806Ala) c.2203T>G (p.Ser735Ala) | |
| 11 | g.121558656C>A | CA383035802 | SORL1 | c.2729C>A (p.Ser910Tyr) n.457C>A n.435C>A c.1190C>A (p.Ser397Tyr) c.89C>A (p.Ser30Tyr) c.2417C>A (p.Ser806Tyr) c.2204C>A (p.Ser735Tyr) | |
| 11 | g.121558656C= | CA2004919315 | SORL1 | c.2729C= (p.Ser910=) n.457C= n.435C= c.1190C= (p.Ser397=) c.89C= (p.Ser30=) c.2417C= (p.Ser806=) c.2204C= (p.Ser735=) | |
| 11 | g.121558656C>G | CA383035804 | SORL1 | c.2729C>G (p.Ser910Cys) n.457C>G n.435C>G c.1190C>G (p.Ser397Cys) c.89C>G (p.Ser30Cys) c.2417C>G (p.Ser806Cys) c.2204C>G (p.Ser735Cys) | dbSNP gnomAD v2 |
| 11 | g.121558656C>T | CA383035806 | SORL1 | c.2729C>T (p.Ser910Phe) n.457C>T n.435C>T c.1190C>T (p.Ser397Phe) c.89C>T (p.Ser30Phe) c.2417C>T (p.Ser806Phe) c.2204C>T (p.Ser735Phe) | |
| 11 | g.121558657T>A | CA477218900 | SORL1 | c.2730T>A (p.Ser910=) n.458T>A n.436T>A c.1191T>A (p.Ser397=) c.90T>A (p.Ser30=) c.2418T>A (p.Ser806=) c.2205T>A (p.Ser735=) | |
| 11 | g.121558657T>C | CA477218902 | SORL1 | c.2730T>C (p.Ser910=) n.458T>C n.436T>C c.1191T>C (p.Ser397=) c.90T>C (p.Ser30=) c.2418T>C (p.Ser806=) c.2205T>C (p.Ser735=) | |
| 11 | g.121558657T>G | CA477218901 | SORL1 | c.2730T>G (p.Ser910=) n.458T>G n.436T>G c.1191T>G (p.Ser397=) c.90T>G (p.Ser30=) c.2418T>G (p.Ser806=) c.2205T>G (p.Ser735=) | |
| 11 | g.121558658G>A | CA383035808 | SORL1 | c.2731G>A (p.Ala911Thr) n.459G>A n.437G>A c.1192G>A (p.Ala398Thr) c.91G>A (p.Ala31Thr) c.2419G>A (p.Ala807Thr) c.2206G>A (p.Ala736Thr) | |
| 11 | g.121558658G>C | CA383035809 | SORL1 | c.2731G>C (p.Ala911Pro) n.459G>C n.437G>C c.1192G>C (p.Ala398Pro) c.91G>C (p.Ala31Pro) c.2419G>C (p.Ala807Pro) c.2206G>C (p.Ala736Pro) | |
| 11 | g.121558658G>T | CA383035810 | SORL1 | c.2731G>T (p.Ala911Ser) n.459G>T n.437G>T c.1192G>T (p.Ala398Ser) c.91G>T (p.Ala31Ser) c.2419G>T (p.Ala807Ser) c.2206G>T (p.Ala736Ser) | |
| 11 | g.121558659C>A | CA383035813 | SORL1 | c.2732C>A (p.Ala911Asp) n.460C>A n.438C>A c.1193C>A (p.Ala398Asp) c.92C>A (p.Ala31Asp) c.2420C>A (p.Ala807Asp) c.2207C>A (p.Ala736Asp) | |
| 11 | g.121558659C>G | CA383035811 | SORL1 | c.2732C>G (p.Ala911Gly) n.460C>G n.438C>G c.1193C>G (p.Ala398Gly) c.92C>G (p.Ala31Gly) c.2420C>G (p.Ala807Gly) c.2207C>G (p.Ala736Gly) | |
| 11 | g.121558659C>T | CA383035812 | SORL1 | c.2732C>T (p.Ala911Val) n.460C>T n.438C>T c.1193C>T (p.Ala398Val) c.92C>T (p.Ala31Val) c.2420C>T (p.Ala807Val) c.2207C>T (p.Ala736Val) | |
| 11 | g.121558660T>A | CA477218903 | SORL1 | c.2733T>A (p.Ala911=) n.461T>A n.439T>A c.1194T>A (p.Ala398=) c.93T>A (p.Ala31=) c.2421T>A (p.Ala807=) c.2208T>A (p.Ala736=) | |
| 11 | g.121558660T>C | CA477218904 | SORL1 | c.2733T>C (p.Ala911=) n.461T>C n.439T>C c.1194T>C (p.Ala398=) c.93T>C (p.Ala31=) c.2421T>C (p.Ala807=) c.2208T>C (p.Ala736=) | |
| 11 | g.121558660T>G | CA477218905 | SORL1 | c.2733T>G (p.Ala911=) n.461T>G n.439T>G c.1194T>G (p.Ala398=) c.93T>G (p.Ala31=) c.2421T>G (p.Ala807=) c.2208T>G (p.Ala736=) | |
| 11 | g.121558661G>A | CA383035814 | SORL1 | c.2734G>A (p.Ala912Thr) n.462G>A n.440G>A c.1195G>A (p.Ala399Thr) c.94G>A (p.Ala32Thr) c.2422G>A (p.Ala808Thr) c.2209G>A (p.Ala737Thr) | |
| 11 | g.121558661G>C | CA383035815 | SORL1 | c.2734G>C (p.Ala912Pro) n.462G>C n.440G>C c.1195G>C (p.Ala399Pro) c.94G>C (p.Ala32Pro) c.2422G>C (p.Ala808Pro) c.2209G>C (p.Ala737Pro) | |
| 11 | g.121558661G>T | CA383035816 | SORL1 | c.2734G>T (p.Ala912Ser) n.462G>T n.440G>T c.1195G>T (p.Ala399Ser) c.94G>T (p.Ala32Ser) c.2422G>T (p.Ala808Ser) c.2209G>T (p.Ala737Ser) | |
| 11 | g.121558662C>A | CA383035817 | SORL1 | c.2735C>A (p.Ala912Asp) n.463C>A n.441C>A c.1196C>A (p.Ala399Asp) c.95C>A (p.Ala32Asp) c.2423C>A (p.Ala808Asp) c.2210C>A (p.Ala737Asp) | |
| 11 | g.121558662C>G | CA383035818 | SORL1 | c.2735C>G (p.Ala912Gly) n.463C>G n.441C>G c.1196C>G (p.Ala399Gly) c.95C>G (p.Ala32Gly) c.2423C>G (p.Ala808Gly) c.2210C>G (p.Ala737Gly) | gnomAD v4 |
| 11 | g.121558662C>T | CA383035819 | SORL1 | c.2735C>T (p.Ala912Val) n.463C>T n.441C>T c.1196C>T (p.Ala399Val) c.95C>T (p.Ala32Val) c.2423C>T (p.Ala808Val) c.2210C>T (p.Ala737Val) | |
| 11 | g.121558663C>A | CA477218906 | SORL1 | c.2736C>A (p.Ala912=) n.464C>A n.442C>A c.1197C>A (p.Ala399=) c.96C>A (p.Ala32=) c.2424C>A (p.Ala808=) c.2211C>A (p.Ala737=) | |
| 11 | g.121558663C>G | CA477218907 | SORL1 | c.2736C>G (p.Ala912=) n.464C>G n.442C>G c.1197C>G (p.Ala399=) c.96C>G (p.Ala32=) c.2424C>G (p.Ala808=) c.2211C>G (p.Ala737=) | |
| 11 | g.121558663C>T | CA477218908 | SORL1 | c.2736C>T (p.Ala912=) n.464C>T n.442C>T c.1197C>T (p.Ala399=) c.96C>T (p.Ala32=) c.2424C>T (p.Ala808=) c.2211C>T (p.Ala737=) | |
| 11 | g.121558664T>A | CA383035822 | SORL1 | c.2737T>A (p.Tyr913Asn) n.465T>A n.443T>A c.1198T>A (p.Tyr400Asn) c.97T>A (p.Tyr33Asn) c.2425T>A (p.Tyr809Asn) c.2212T>A (p.Tyr738Asn) | |
| 11 | g.121558664T>C | CA383035820 | SORL1 | c.2737T>C (p.Tyr913His) n.465T>C n.443T>C c.1198T>C (p.Tyr400His) c.97T>C (p.Tyr33His) c.2425T>C (p.Tyr809His) c.2212T>C (p.Tyr738His) | |
| 11 | g.121558664T>G | CA383035821 | SORL1 | c.2737T>G (p.Tyr913Asp) n.465T>G n.443T>G c.1198T>G (p.Tyr400Asp) c.97T>G (p.Tyr33Asp) c.2425T>G (p.Tyr809Asp) c.2212T>G (p.Tyr738Asp) | |
| 11 | g.121558665A= | CA2004919316 | SORL1 | c.2738A= (p.Tyr913=) n.466A= n.444A= c.1199A= (p.Tyr400=) c.98A= (p.Tyr33=) c.2426A= (p.Tyr809=) c.2213A= (p.Tyr738=) | |
| 11 | g.121558665A>C | CA6329052 | SORL1 | c.2738A>C (p.Tyr913Ser) n.466A>C n.444A>C c.1199A>C (p.Tyr400Ser) c.98A>C (p.Tyr33Ser) c.2426A>C (p.Tyr809Ser) c.2213A>C (p.Tyr738Ser) | dbSNP ExAC gnomAD v2 |
| 11 | g.121558665A>G | CA383035823 | SORL1 | c.2738A>G (p.Tyr913Cys) n.466A>G n.444A>G c.1199A>G (p.Tyr400Cys) c.98A>G (p.Tyr33Cys) c.2426A>G (p.Tyr809Cys) c.2213A>G (p.Tyr738Cys) | gnomAD v4 |
| 11 | g.121558665A>T | CA383035824 | SORL1 | c.2738A>T (p.Tyr913Phe) n.466A>T n.444A>T c.1199A>T (p.Tyr400Phe) c.98A>T (p.Tyr33Phe) c.2426A>T (p.Tyr809Phe) c.2213A>T (p.Tyr738Phe) | |
| 11 | g.121558666T>A | CA383035825 | SORL1 | c.2739T>A (p.Tyr913Ter) n.467T>A n.445T>A c.1200T>A (p.Tyr400Ter) c.99T>A (p.Tyr33Ter) c.2427T>A (p.Tyr809Ter) c.2214T>A (p.Tyr738Ter) | |
| 11 | g.121558666T>C | CA477218909 | SORL1 | c.2739T>C (p.Tyr913=) n.467T>C n.445T>C c.1200T>C (p.Tyr400=) c.99T>C (p.Tyr33=) c.2427T>C (p.Tyr809=) c.2214T>C (p.Tyr738=) | |
| 11 | g.121558666T>G | CA383035826 | SORL1 | c.2739T>G (p.Tyr913Ter) n.467T>G n.445T>G c.1200T>G (p.Tyr400Ter) c.99T>G (p.Tyr33Ter) c.2427T>G (p.Tyr809Ter) c.2214T>G (p.Tyr738Ter) | |
| 11 | g.121558667C>A | CA383035827 | SORL1 | c.2740C>A (p.His914Asn) n.468C>A n.446C>A c.1201C>A (p.His401Asn) c.100C>A (p.His34Asn) c.2428C>A (p.His810Asn) c.2215C>A (p.His739Asn) | |
| 11 | g.121558667C>G | CA383035829 | SORL1 | c.2740C>G (p.His914Asp) n.468C>G n.446C>G c.1201C>G (p.His401Asp) c.100C>G (p.His34Asp) c.2428C>G (p.His810Asp) c.2215C>G (p.His739Asp) | |
| 11 | g.121558667C>T | CA383035828 | SORL1 | c.2740C>T (p.His914Tyr) n.468C>T n.446C>T c.1201C>T (p.His401Tyr) c.100C>T (p.His34Tyr) c.2428C>T (p.His810Tyr) c.2215C>T (p.His739Tyr) | |
| 11 | g.121558668A>C | CA383035830 | SORL1 | c.2741A>C (p.His914Pro) n.469A>C n.447A>C c.1202A>C (p.His401Pro) c.101A>C (p.His34Pro) c.2429A>C (p.His810Pro) c.2216A>C (p.His739Pro) | |
| 11 | g.121558668A>G | CA383035831 | SORL1 | c.2741A>G (p.His914Arg) n.469A>G n.447A>G c.1202A>G (p.His401Arg) c.101A>G (p.His34Arg) c.2429A>G (p.His810Arg) c.2216A>G (p.His739Arg) | dbSNP |
| 11 | g.121558668A>T | CA383035832 | SORL1 | c.2741A>T (p.His914Leu) n.469A>T n.447A>T c.1202A>T (p.His401Leu) c.101A>T (p.His34Leu) c.2429A>T (p.His810Leu) c.2216A>T (p.His739Leu) | |
| 11 | g.121558669C>A | CA383035833 | SORL1 | c.2742C>A (p.His914Gln) n.470C>A n.448C>A c.1203C>A (p.His401Gln) c.102C>A (p.His34Gln) c.2430C>A (p.His810Gln) c.2217C>A (p.His739Gln) | |
| 11 | g.121558669C= | CA2004919317 | SORL1 | c.2742C= (p.His914=) n.470C= n.448C= c.1203C= (p.His401=) c.102C= (p.His34=) c.2430C= (p.His810=) c.2217C= (p.His739=) | |
| 11 | g.121558669C>G | CA383035834 | SORL1 | c.2742C>G (p.His914Gln) n.470C>G n.448C>G c.1203C>G (p.His401Gln) c.102C>G (p.His34Gln) c.2430C>G (p.His810Gln) c.2217C>G (p.His739Gln) | |
| 11 | g.121558669C>T | CA477218910 | SORL1 | c.2742C>T (p.His914=) n.470C>T n.448C>T c.1203C>T (p.His401=) c.102C>T (p.His34=) c.2430C>T (p.His810=) c.2217C>T (p.His739=) | dbSNP gnomAD v4 |