Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.121496818C>ACA2616495920SORL1c.759-51C>A (n.759-51C>A)
n.711-51C>A
c.447-51C>A (n.447-51C>A)
c.234-51C>A (n.234-51C>A)
 gnomAD v4
11g.121496818C=CA2004892306SORL1c.759-51C= (n.759-51C=)
n.711-51C=
c.447-51C= (n.447-51C=)
c.234-51C= (n.234-51C=)
11g.121496818C>GCA6328452SORL1c.759-51C>G (n.759-51C>G)
n.711-51C>G
c.447-51C>G (n.447-51C>G)
c.234-51C>G (n.234-51C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121496818C>TCA6328453SORL1c.759-51C>T (n.759-51C>T)
n.711-51C>T
c.447-51C>T (n.447-51C>T)
c.234-51C>T (n.234-51C>T)
 dbSNP ExAC gnomAD v3 gnomAD v4
11g.121496819T>ACA602586420SORL1c.759-50T>A (n.759-50T>A)
n.711-50T>A
c.447-50T>A (n.447-50T>A)
c.234-50T>A (n.234-50T>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121496819T=CA2004892310SORL1c.759-50T= (n.759-50T=)
n.711-50T=
c.447-50T= (n.447-50T=)
c.234-50T= (n.234-50T=)
11g.121496820A=CA2004892312SORL1c.759-49A= (n.759-49A=)
n.711-49A=
c.447-49A= (n.447-49A=)
c.234-49A= (n.234-49A=)
11g.121496820A>GCA602586421SORL1c.759-49A>G (n.759-49A>G)
n.711-49A>G
c.447-49A>G (n.447-49A>G)
c.234-49A>G (n.234-49A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121496821G>ACA2616495921SORL1c.759-48G>A (n.759-48G>A)
n.711-48G>A
c.447-48G>A (n.447-48G>A)
c.234-48G>A (n.234-48G>A)
 gnomAD v4
11g.121496821G>CCA6328454SORL1c.759-48G>C (n.759-48G>C)
n.711-48G>C
c.447-48G>C (n.447-48G>C)
c.234-48G>C (n.234-48G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121496821G=CA2004892314SORL1c.759-48G= (n.759-48G=)
n.711-48G=
c.447-48G= (n.447-48G=)
c.234-48G= (n.234-48G=)
11g.121496822T>ACA6328455SORL1c.759-47T>A (n.759-47T>A)
n.711-47T>A
c.447-47T>A (n.447-47T>A)
c.234-47T>A (n.234-47T>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121496822T>CCA2616495922SORL1c.759-47T>C (n.759-47T>C)
n.711-47T>C
c.447-47T>C (n.447-47T>C)
c.234-47T>C (n.234-47T>C)
 gnomAD v4
11g.121496822T=CA2004892316SORL1c.759-47T= (n.759-47T=)
n.711-47T=
c.447-47T= (n.447-47T=)
c.234-47T= (n.234-47T=)
11g.121496823A>TCA2616495923SORL1c.759-46A>T (n.759-46A>T)
n.711-46A>T
c.447-46A>T (n.447-46A>T)
c.234-46A>T (n.234-46A>T)
 gnomAD v4
11g.121496825T>CCA2616495924SORL1c.759-44T>C (n.759-44T>C)
n.711-44T>C
c.447-44T>C (n.447-44T>C)
c.234-44T>C (n.234-44T>C)
 gnomAD v4
11g.121496826T>CCA6328456SORL1c.759-43T>C (n.759-43T>C)
n.711-43T>C
c.447-43T>C (n.447-43T>C)
c.234-43T>C (n.234-43T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121496826T=CA2004892318SORL1c.759-43T= (n.759-43T=)
n.711-43T=
c.447-43T= (n.447-43T=)
c.234-43T= (n.234-43T=)
11g.121496827A>TCA2616495925SORL1c.759-42A>T (n.759-42A>T)
n.711-42A>T
c.447-42A>T (n.447-42A>T)
c.234-42A>T (n.234-42A>T)
 gnomAD v4
11g.121496829A=CA2004892322SORL1c.759-40A= (n.759-40A=)
n.711-40A=
c.447-40A= (n.447-40A=)
c.234-40A= (n.234-40A=)
11g.121496829A>GCA6328457SORL1c.759-40A>G (n.759-40A>G)
n.711-40A>G
c.447-40A>G (n.447-40A>G)
c.234-40A>G (n.234-40A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121496830T>CCA602586422SORL1c.759-39T>C (n.759-39T>C)
n.711-39T>C
c.447-39T>C (n.447-39T>C)
c.234-39T>C (n.234-39T>C)
 dbSNP gnomAD v2 gnomAD v4
11g.121496830T=CA2004892326SORL1c.759-39T= (n.759-39T=)
n.711-39T=
c.447-39T= (n.447-39T=)
c.234-39T= (n.234-39T=)
11g.121496831G>ACA2616495927SORL1c.759-38G>A (n.759-38G>A)
n.711-38G>A
c.447-38G>A (n.447-38G>A)
c.234-38G>A (n.234-38G>A)
 gnomAD v4
11g.121496831G>TCA2616495926SORL1c.759-38G>T (n.759-38G>T)
n.711-38G>T
c.447-38G>T (n.447-38G>T)
c.234-38G>T (n.234-38G>T)
 gnomAD v4
11g.121496832T>CCA2616495928SORL1c.759-37T>C (n.759-37T>C)
n.711-37T>C
c.447-37T>C (n.447-37T>C)
c.234-37T>C (n.234-37T>C)
 gnomAD v4
11g.121496833G>ACA2616495929SORL1c.759-36G>A (n.759-36G>A)
n.711-36G>A
c.447-36G>A (n.447-36G>A)
c.234-36G>A (n.234-36G>A)
 gnomAD v4
11g.121496833G=CA2004892329SORL1c.759-36G= (n.759-36G=)
n.711-36G=
c.447-36G= (n.447-36G=)
c.234-36G= (n.234-36G=)
11g.121496833G>TCA602586423SORL1c.759-36G>T (n.759-36G>T)
n.711-36G>T
c.447-36G>T (n.447-36G>T)
c.234-36G>T (n.234-36G>T)
 dbSNP gnomAD v2 gnomAD v4
11g.121496834C>ACA2616495930SORL1c.759-35C>A (n.759-35C>A)
n.711-35C>A
c.447-35C>A (n.447-35C>A)
c.234-35C>A (n.234-35C>A)
 gnomAD v4
11g.121496834C>TCA2616495931SORL1c.759-35C>T (n.759-35C>T)
n.711-35C>T
c.447-35C>T (n.447-35C>T)
c.234-35C>T (n.234-35C>T)
 gnomAD v4
11g.121496835A=CA2004892332SORL1c.759-34A= (n.759-34A=)
n.711-34A=
c.447-34A= (n.447-34A=)
c.234-34A= (n.234-34A=)
11g.121496835A>GCA6328458SORL1c.759-34A>G (n.759-34A>G)
n.711-34A>G
c.447-34A>G (n.447-34A>G)
c.234-34A>G (n.234-34A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121496836A>CCA2616495932SORL1c.759-33A>C (n.759-33A>C)
n.711-33A>C
c.447-33A>C (n.447-33A>C)
c.234-33A>C (n.234-33A>C)
 gnomAD v4
11g.121496836A>GCA2616495933SORL1c.759-33A>G (n.759-33A>G)
n.711-33A>G
c.447-33A>G (n.447-33A>G)
c.234-33A>G (n.234-33A>G)
 gnomAD v4
11g.121496838T>CCA2793899598SORL1c.759-31T>C (n.759-31T>C)
n.711-31T>C
c.447-31T>C (n.447-31T>C)
c.234-31T>C (n.234-31T>C)
11g.121496838T>GCA2616495934SORL1c.759-31T>G (n.759-31T>G)
n.711-31T>G
c.447-31T>G (n.447-31T>G)
c.234-31T>G (n.234-31T>G)
 gnomAD v4
11g.121496839G>TCA2616495935SORL1c.759-30G>T (n.759-30G>T)
n.711-30G>T
c.447-30G>T (n.447-30G>T)
c.234-30G>T (n.234-30G>T)
 gnomAD v4
11g.121496840A=CA2004892334SORL1c.759-29A= (n.759-29A=)
n.711-29A=
c.447-29A= (n.447-29A=)
c.234-29A= (n.234-29A=)
11g.121496840A>GCA2616495936SORL1c.759-29A>G (n.759-29A>G)
n.711-29A>G
c.447-29A>G (n.447-29A>G)
c.234-29A>G (n.234-29A>G)
 gnomAD v4
11g.121496840A>TCA602586424SORL1c.759-29A>T (n.759-29A>T)
n.711-29A>T
c.447-29A>T (n.447-29A>T)
c.234-29A>T (n.234-29A>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121496841_121496844delinsTAACCA2004892337SORL1c.759-28_759-25delinsTAAC (n.759-28_759-25delinsTAAC)
n.711-28_711-25delinsTAAC
c.447-28_447-25delinsTAAC (n.447-28_447-25delinsTAAC)
c.234-28_234-25delinsTAAC (n.234-28_234-25delinsTAAC)
11g.121496842A=CA2004892340SORL1c.759-27A= (n.759-27A=)
n.711-27A=
c.447-27A= (n.447-27A=)
c.234-27A= (n.234-27A=)
11g.121496842A>GCA6328460SORL1c.759-27A>G (n.759-27A>G)
n.711-27A>G
c.447-27A>G (n.447-27A>G)
c.234-27A>G (n.234-27A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121496845_121496847delCA6328459SORL1c.759-24_759-22del (n.759-24_759-22del)
n.711-24_711-22del
c.447-24_447-22del (n.447-24_447-22del)
c.234-24_234-22del (n.234-24_234-22del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121496843_121496847delinsACAACCA2004892342SORL1c.759-26_759-22delinsACAAC (n.759-26_759-22delinsACAAC)
n.711-26_711-22delinsACAAC
c.447-26_447-22delinsACAAC (n.447-26_447-22delinsACAAC)
c.234-26_234-22delinsACAAC (n.234-26_234-22delinsACAAC)
11g.121496844C>ACA2616495937SORL1c.759-25C>A (n.759-25C>A)
n.711-25C>A
c.447-25C>A (n.447-25C>A)
c.234-25C>A (n.234-25C>A)
 gnomAD v4
11g.121496844C=CA2004892347SORL1c.759-25C= (n.759-25C=)
n.711-25C=
c.447-25C= (n.447-25C=)
c.234-25C= (n.234-25C=)
11g.121496844C>TCA602586425SORL1c.759-25C>T (n.759-25C>T)
n.711-25C>T
c.447-25C>T (n.447-25C>T)
c.234-25C>T (n.234-25C>T)
 dbSNP gnomAD v2 gnomAD v4
11g.121496844_121496845delinsCACA2004892349SORL1c.759-25_759-24delinsCA (n.759-25_759-24delinsCA)
n.711-25_711-24delinsCA
c.447-25_447-24delinsCA (n.447-25_447-24delinsCA)
c.234-25_234-24delinsCA (n.234-25_234-24delinsCA)
11g.121496845_121496848delCA672579824SORL1c.759-24_759-21del (n.759-24_759-21del)
n.711-24_711-21del
c.447-24_447-21del (n.447-24_447-21del)
c.234-24_234-21del (n.234-24_234-21del)
 dbSNP
11g.121496845A>CCA942949572SORL1c.759-24A>C (n.759-24A>C)
n.711-24A>C
c.447-24A>C (n.447-24A>C)
c.234-24A>C (n.234-24A>C)
 gnomAD v3 gnomAD v4
11g.121496845A>GCA2616495939SORL1c.759-24A>G (n.759-24A>G)
n.711-24A>G
c.447-24A>G (n.447-24A>G)
c.234-24A>G (n.234-24A>G)
 gnomAD v4
11g.121496845_121496846delCA2616495938SORL1c.759-24_759-23del (n.759-24_759-23del)
n.711-24_711-23del
c.447-24_447-23del (n.447-24_447-23del)
c.234-24_234-23del (n.234-24_234-23del)
 dbSNP gnomAD v4
11g.121496846delCA2004892353SORL1c.759-23del (n.759-23del)
n.711-23del
c.447-23del (n.447-23del)
c.234-23del (n.234-23del)
 dbSNP
11g.121496846A=CA2004892355SORL1c.759-23A= (n.759-23A=)
n.711-23A=
c.447-23A= (n.447-23A=)
c.234-23A= (n.234-23A=)
11g.121496846A>CCA942949582SORL1c.759-23A>C (n.759-23A>C)
n.711-23A>C
c.447-23A>C (n.447-23A>C)
c.234-23A>C (n.234-23A>C)
 dbSNP gnomAD v3 gnomAD v4
11g.121496846A>GCA2616495940SORL1c.759-23A>G (n.759-23A>G)
n.711-23A>G
c.447-23A>G (n.447-23A>G)
c.234-23A>G (n.234-23A>G)
 gnomAD v4
11g.121496846A>TCA229977108SORL1c.759-23A>T (n.759-23A>T)
n.711-23A>T
c.447-23A>T (n.447-23A>T)
c.234-23A>T (n.234-23A>T)
 dbSNP gnomAD v3 gnomAD v4
11g.121496846_121496847delinsACCA2004892358SORL1c.759-23_759-22delinsAC (n.759-23_759-22delinsAC)
n.711-23_711-22delinsAC
c.447-23_447-22delinsAC (n.447-23_447-22delinsAC)
c.234-23_234-22delinsAC (n.234-23_234-22delinsAC)
11g.121496847C>TCA2616495941SORL1c.759-22C>T (n.759-22C>T)
n.711-22C>T
c.447-22C>T (n.447-22C>T)
c.234-22C>T (n.234-22C>T)
 gnomAD v4
11g.121496848delCA2004892360SORL1c.759-21del (n.759-21del)
n.711-21del
c.447-21del (n.447-21del)
c.234-21del (n.234-21del)
 dbSNP gnomAD v4
11g.121496847_121496849delinsCCTCA2004892361SORL1c.759-22_759-20delinsCCT (n.759-22_759-20delinsCCT)
n.711-22_711-20delinsCCT
c.447-22_447-20delinsCCT (n.447-22_447-20delinsCCT)
c.234-22_234-20delinsCCT (n.234-22_234-20delinsCCT)
11g.121496847_121496848insTCA2616495942SORL1c.759-22_759-21insT (n.759-22_759-21insT)
n.711-22_711-21insT
c.447-22_447-21insT (n.447-22_447-21insT)
c.234-22_234-21insT (n.234-22_234-21insT)
 gnomAD v4
11g.121496848C>TCA2616495944SORL1c.759-21C>T (n.759-21C>T)
n.711-21C>T
c.447-21C>T (n.447-21C>T)
c.234-21C>T (n.234-21C>T)
 gnomAD v4
11g.121496848_121496849delCA6328461SORL1c.759-21_759-20del (n.759-21_759-20del)
n.711-21_711-20del
c.447-21_447-20del (n.447-21_447-20del)
c.234-21_234-20del (n.234-21_234-20del)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121496848_121496850delCA2616495943SORL1c.759-21_759-19del (n.759-21_759-19del)
n.711-21_711-19del
c.447-21_447-19del (n.447-21_447-19del)
c.234-21_234-19del (n.234-21_234-19del)
 gnomAD v4
11g.121496848_121496851delinsCTTTCA2004892365SORL1c.759-21_759-18delinsCTTT (n.759-21_759-18delinsCTTT)
n.711-21_711-18delinsCTTT
c.447-21_447-18delinsCTTT (n.447-21_447-18delinsCTTT)
c.234-21_234-18delinsCTTT (n.234-21_234-18delinsCTTT)
11g.121496848_121496849insCTCA229977145SORL1c.759-21_759-20insCT (n.759-21_759-20insCT)
n.711-21_711-20insCT
c.447-21_447-20insCT (n.447-21_447-20insCT)
c.234-21_234-20insCT (n.234-21_234-20insCT)
11g.121496849T>ACA2004892385SORL1c.759-20T>A (n.759-20T>A)
n.711-20T>A
c.447-20T>A (n.447-20T>A)
c.234-20T>A (n.234-20T>A)
 dbSNP
11g.121496849T>CCA229977120SORL1c.759-20T>C (n.759-20T>C)
n.711-20T>C
c.447-20T>C (n.447-20T>C)
c.234-20T>C (n.234-20T>C)
 dbSNP gnomAD v4
11g.121496849T=CA2004892383SORL1c.759-20T= (n.759-20T=)
n.711-20T=
c.447-20T= (n.447-20T=)
c.234-20T= (n.234-20T=)
11g.121496861dupCA6328463SORL1c.759-8dup (n.759-8dup)
n.711-8dup
c.447-8dup (n.447-8dup)
c.234-8dup (n.234-8dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121496860_121496861dupCA6328466SORL1c.759-9_759-8dup (n.759-9_759-8dup)
n.711-9_711-8dup
c.447-9_447-8dup (n.447-9_447-8dup)
c.234-9_234-8dup (n.234-9_234-8dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121496859_121496861dupCA602586426SORL1c.759-10_759-8dup (n.759-10_759-8dup)
n.711-10_711-8dup
c.447-10_447-8dup (n.447-10_447-8dup)
c.234-10_234-8dup (n.234-10_234-8dup)
 gnomAD v2 gnomAD v3 gnomAD v4
11g.121496858_121496861dupCA942949590SORL1c.759-11_759-8dup (n.759-11_759-8dup)
n.711-11_711-8dup
c.447-11_447-8dup (n.447-11_447-8dup)
c.234-11_234-8dup (n.234-11_234-8dup)
 gnomAD v3 gnomAD v4
11g.121496857_121496861dupCA2616495946SORL1c.759-12_759-8dup (n.759-12_759-8dup)
n.711-12_711-8dup
c.447-12_447-8dup (n.447-12_447-8dup)
c.234-12_234-8dup (n.234-12_234-8dup)
 gnomAD v4
11g.121496856_121496861dupCA2793899615SORL1c.759-13_759-8dup (n.759-13_759-8dup)
n.711-13_711-8dup
c.447-13_447-8dup (n.447-13_447-8dup)
c.234-13_234-8dup (n.234-13_234-8dup)
11g.121496854_121496861dupCA2793899614SORL1c.759-15_759-8dup (n.759-15_759-8dup)
n.711-15_711-8dup
c.447-15_447-8dup (n.447-15_447-8dup)
c.234-15_234-8dup (n.234-15_234-8dup)
11g.121496861delCA6328462SORL1c.759-8del (n.759-8del)
n.711-8del
c.447-8del (n.447-8del)
c.234-8del (n.234-8del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121496860_121496861delCA6328464SORL1c.759-9_759-8del (n.759-9_759-8del)
n.711-9_711-8del
c.447-9_447-8del (n.447-9_447-8del)
c.234-9_234-8del (n.234-9_234-8del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121496859_121496861delCA6328465SORL1c.759-10_759-8del (n.759-10_759-8del)
n.711-10_711-8del
c.447-10_447-8del (n.447-10_447-8del)
c.234-10_234-8del (n.234-10_234-8del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121496858_121496861delCA942949593SORL1c.759-11_759-8del (n.759-11_759-8del)
n.711-11_711-8del
c.447-11_447-8del (n.447-11_447-8del)
c.234-11_234-8del (n.234-11_234-8del)
 gnomAD v3 gnomAD v4
11g.121496857_121496861delCA2616495945SORL1c.759-12_759-8del (n.759-12_759-8del)
n.711-12_711-8del
c.447-12_447-8del (n.447-12_447-8del)
c.234-12_234-8del (n.234-12_234-8del)
 gnomAD v4
11g.121496850T>CCA2616495947SORL1c.759-19T>C (n.759-19T>C)
n.711-19T>C
c.447-19T>C (n.447-19T>C)
c.234-19T>C (n.234-19T>C)
 gnomAD v4
11g.121496851T>CCA2616495948SORL1c.759-18T>C (n.759-18T>C)
n.711-18T>C
c.447-18T>C (n.447-18T>C)
c.234-18T>C (n.234-18T>C)
 gnomAD v4
11g.121496852T>CCA2616495949SORL1c.759-17T>C (n.759-17T>C)
n.711-17T>C
c.447-17T>C (n.447-17T>C)
c.234-17T>C (n.234-17T>C)
 gnomAD v4
11g.121496855T>ACA2575009046SORL1c.759-14T>A (n.759-14T>A)
n.711-14T>A
c.447-14T>A (n.447-14T>A)
c.234-14T>A (n.234-14T>A)
 gnomAD v4
11g.121496855T>CCA2603459901SORL1c.759-14T>C (n.759-14T>C)
n.711-14T>C
c.447-14T>C (n.447-14T>C)
c.234-14T>C (n.234-14T>C)
 dbSNP gnomAD v3 gnomAD v4
11g.121496855T>GCA2616495950SORL1c.759-14T>G (n.759-14T>G)
n.711-14T>G
c.447-14T>G (n.447-14T>G)
c.234-14T>G (n.234-14T>G)
 gnomAD v4
11g.121496856T>ACA6328467SORL1c.759-13T>A (n.759-13T>A)
n.711-13T>A
c.447-13T>A (n.447-13T>A)
c.234-13T>A (n.234-13T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121496856T=CA2004892396SORL1c.759-13T= (n.759-13T=)
n.711-13T=
c.447-13T= (n.447-13T=)
c.234-13T= (n.234-13T=)
11g.121496857T>ACA942949598SORL1c.759-12T>A (n.759-12T>A)
n.711-12T>A
c.447-12T>A (n.447-12T>A)
c.234-12T>A (n.234-12T>A)
 dbSNP gnomAD v3 gnomAD v4
11g.121496857T=CA2004892398SORL1c.759-12T= (n.759-12T=)
n.711-12T=
c.447-12T= (n.447-12T=)
c.234-12T= (n.234-12T=)
11g.121496858T>CCA2616495951SORL1c.759-11T>C (n.759-11T>C)
n.711-11T>C
c.447-11T>C (n.447-11T>C)
c.234-11T>C (n.234-11T>C)
 gnomAD v4
11g.121496858T>GCA6328468SORL1c.759-11T>G (n.759-11T>G)
n.711-11T>G
c.447-11T>G (n.447-11T>G)
c.234-11T>G (n.234-11T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121496858T=CA2004892400SORL1c.759-11T= (n.759-11T=)
n.711-11T=
c.447-11T= (n.447-11T=)
c.234-11T= (n.234-11T=)
11g.121496859T>ACA229977161SORL1c.759-10T>A (n.759-10T>A)
n.711-10T>A
c.447-10T>A (n.447-10T>A)
c.234-10T>A (n.234-10T>A)
 dbSNP gnomAD v4
11g.121496859T>CCA672579855SORL1c.759-10T>C (n.759-10T>C)
n.711-10T>C
c.447-10T>C (n.447-10T>C)
c.234-10T>C (n.234-10T>C)
 dbSNP gnomAD v3 gnomAD v4
11g.121496859T=CA2004892404SORL1c.759-10T= (n.759-10T=)
n.711-10T=
c.447-10T= (n.447-10T=)
c.234-10T= (n.234-10T=)
11g.121496860T>CCA2616495953SORL1c.759-9T>C (n.759-9T>C)
n.711-9T>C
c.447-9T>C (n.447-9T>C)
c.234-9T>C (n.234-9T>C)
 gnomAD v4
11g.121496861_121496863delCA2616495952SORL1c.759-8_759-6del (n.759-8_759-6del)
n.711-8_711-6del
c.447-8_447-6del (n.447-8_447-6del)
c.234-8_234-6del (n.234-8_234-6del)
 gnomAD v4
11g.121496861T>ACA2004892408SORL1c.759-8T>A (n.759-8T>A)
n.711-8T>A
c.447-8T>A (n.447-8T>A)
c.234-8T>A (n.234-8T>A)
 dbSNP
11g.121496861T>CCA6328469SORL1c.759-8T>C (n.759-8T>C)
n.711-8T>C
c.447-8T>C (n.447-8T>C)
c.234-8T>C (n.234-8T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121496861T=CA2004892407SORL1c.759-8T= (n.759-8T=)
n.711-8T=
c.447-8T= (n.447-8T=)
c.234-8T= (n.234-8T=)
11g.121496861_121496862delinsTCCA2004892409SORL1c.759-8_759-7delinsTC (n.759-8_759-7delinsTC)
n.711-8_711-7delinsTC
c.447-8_447-7delinsTC (n.447-8_447-7delinsTC)
c.234-8_234-7delinsTC (n.234-8_234-7delinsTC)
11g.121496862_121496863delCA2616495954SORL1c.759-7_759-6del (n.759-7_759-6del)
n.711-7_711-6del
c.447-7_447-6del (n.447-7_447-6del)
c.234-7_234-6del (n.234-7_234-6del)
 gnomAD v4
11g.121496861_121496862insTTTTCCA2616495956SORL1c.759-8_759-7insTTTTC (n.759-8_759-7insTTTTC)
n.711-8_711-7insTTTTC
c.447-8_447-7insTTTTC (n.447-8_447-7insTTTTC)
c.234-8_234-7insTTTTC (n.234-8_234-7insTTTTC)
 gnomAD v4
11g.121496862delCA602586427SORL1c.759-7del (n.759-7del)
n.711-7del
c.447-7del (n.447-7del)
c.234-7del (n.234-7del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121496862C>ACA229977174SORL1c.759-7C>A (n.759-7C>A)
n.711-7C>A
c.447-7C>A (n.447-7C>A)
c.234-7C>A (n.234-7C>A)
 dbSNP gnomAD v4
11g.121496862C=CA2004892417SORL1c.759-7C= (n.759-7C=)
n.711-7C=
c.447-7C= (n.447-7C=)
c.234-7C= (n.234-7C=)
11g.121496862C>GCA2793899630SORL1c.759-7C>G (n.759-7C>G)
n.711-7C>G
c.447-7C>G (n.447-7C>G)
c.234-7C>G (n.234-7C>G)
11g.121496862C>TCA6328470SORL1c.759-7C>T (n.759-7C>T)
n.711-7C>T
c.447-7C>T (n.447-7C>T)
c.234-7C>T (n.234-7C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121496862dupCA2616495955SORL1c.759-7dup (n.759-7dup)
n.711-7dup
c.447-7dup (n.447-7dup)
c.234-7dup (n.234-7dup)
 gnomAD v4
11g.121496863_121496864delCA2616495957SORL1c.759-6_759-5del (n.759-6_759-5del)
n.711-6_711-5del
c.447-6_447-5del (n.447-6_447-5del)
c.234-6_234-5del (n.234-6_234-5del)
 gnomAD v4
11g.121496863_121496867delinsTGCCACA2004892420SORL1c.759-6_759-2delinsTGCCA (n.759-6_759-2delinsTGCCA)
n.711-6_711-2delinsTGCCA
c.447-6_447-2delinsTGCCA (n.447-6_447-2delinsTGCCA)
c.234-6_234-2delinsTGCCA (n.234-6_234-2delinsTGCCA)
11g.121496863_121496864insTTAGCA2793899643SORL1c.759-6_759-5insTTAG (n.759-6_759-5insTTAG)
n.711-6_711-5insTTAG
c.447-6_447-5insTTAG (n.447-6_447-5insTTAG)
c.234-6_234-5insTTAG (n.234-6_234-5insTTAG)
11g.121496863_121496864insTTTAGGCA2793899641SORL1c.759-6_759-5insTTTAGG (n.759-6_759-5insTTTAGG)
n.711-6_711-5insTTTAGG
c.447-6_447-5insTTTAGG (n.447-6_447-5insTTTAGG)
c.234-6_234-5insTTTAGG (n.234-6_234-5insTTTAGG)
11g.121496863_121496864insTTTTTGGCA2793899640SORL1c.759-6_759-5insTTTTTGG (n.759-6_759-5insTTTTTGG)
n.711-6_711-5insTTTTTGG
c.447-6_447-5insTTTTTGG (n.447-6_447-5insTTTTTGG)
c.234-6_234-5insTTTTTGG (n.234-6_234-5insTTTTTGG)
11g.121496864delCA2616495962SORL1c.759-5del (n.759-5del)
n.711-5del
c.447-5del (n.447-5del)
c.234-5del (n.234-5del)
 gnomAD v4
11g.121496864G>ACA2575009047SORL1c.759-5G>A (n.759-5G>A)
n.711-5G>A
c.447-5G>A (n.447-5G>A)
c.234-5G>A (n.234-5G>A)
 gnomAD v4
11g.121496864G>CCA2616495958SORL1c.759-5G>C (n.759-5G>C)
n.711-5G>C
c.447-5G>C (n.447-5G>C)
c.234-5G>C (n.234-5G>C)
 gnomAD v4
11g.121496864G=CA2004892427SORL1c.759-5G= (n.759-5G=)
n.711-5G=
c.447-5G= (n.447-5G=)
c.234-5G= (n.234-5G=)
11g.121496864G>TCA602586430SORL1c.759-5G>T (n.759-5G>T)
n.711-5G>T
c.447-5G>T (n.447-5G>T)
c.234-5G>T (n.234-5G>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121496864_121496865delCA602586429SORL1c.759-5_759-4del (n.759-5_759-4del)
n.711-5_711-4del
c.447-5_447-4del (n.447-5_447-4del)
c.234-5_234-4del (n.234-5_234-4del)
 gnomAD v2 gnomAD v4
11g.121496864_121496866delCA2616495963SORL1c.759-5_759-3del (n.759-5_759-3del)
n.711-5_711-3del
c.447-5_447-3del (n.447-5_447-3del)
c.234-5_234-3del (n.234-5_234-3del)
 gnomAD v4
11g.121496865_121496868delCA602586428SORL1c.759-4_759-1del (n.759-4_759-1del)
n.711-4_711-1del
c.447-4_447-1del (n.447-4_447-1del)
c.234-4_234-1del (n.234-4_234-1del)
 dbSNP gnomAD v2 gnomAD v4
11g.121496865_121496869delCA2616495960SORL1c.759-4_759del
n.711-4_711del
c.447-4_447del
c.234-4_234del
 gnomAD v4
11g.121496865_121496870delCA2616495959SORL1c.759-4_760del
n.711-4_712del
c.447-4_448del
c.234-4_235del
 gnomAD v4
11g.121496864_121496871delCA942949606SORL1c.759-5_761del
n.711-5_713del
c.447-5_449del
c.234-5_236del
 gnomAD v3 gnomAD v4
11g.121496865_121496871delCA2616495961SORL1c.759-4_761del
n.711-4_713del
c.447-4_449del
c.234-4_236del
 gnomAD v4
11g.121496864_121496872delCA942949608SORL1c.759-5_762del
n.711-5_714del
c.447-5_450del
c.234-5_237del
 gnomAD v3 gnomAD v4
11g.121496864_121496873delCA942949609SORL1c.759-5_763del
n.711-5_715del
c.447-5_451del
c.234-5_238del
 gnomAD v3 gnomAD v4
11g.121496865C>ACA2616495964SORL1c.759-4C>A (n.759-4C>A)
n.711-4C>A
c.447-4C>A (n.447-4C>A)
c.234-4C>A (n.234-4C>A)
 gnomAD v4
11g.121496865C=CA2004892431SORL1c.759-4C= (n.759-4C=)
n.711-4C=
c.447-4C= (n.447-4C=)
c.234-4C= (n.234-4C=)
11g.121496865C>GCA2616495965SORL1c.759-4C>G (n.759-4C>G)
n.711-4C>G
c.447-4C>G (n.447-4C>G)
c.234-4C>G (n.234-4C>G)
 gnomAD v4
11g.121496865C>TCA602586431SORL1c.759-4C>T (n.759-4C>T)
n.711-4C>T
c.447-4C>T (n.447-4C>T)
c.234-4C>T (n.234-4C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121496865_121496866insTTTCA602586432SORL1c.759-4_759-3insTTT (n.759-4_759-3insTTT)
n.711-4_711-3insTTT
c.447-4_447-3insTTT (n.447-4_447-3insTTT)
c.234-4_234-3insTTT (n.234-4_234-3insTTT)
 gnomAD v2
11g.121496866C>ACA2616495966SORL1c.759-3C>A (n.759-3C>A)
n.711-3C>A
c.447-3C>A (n.447-3C>A)
c.234-3C>A (n.234-3C>A)
 gnomAD v4
11g.121496866C=CA2004892433SORL1c.759-3C= (n.759-3C=)
n.711-3C=
c.447-3C= (n.447-3C=)
c.234-3C= (n.234-3C=)
11g.121496866C>GCA2616495967SORL1c.759-3C>G (n.759-3C>G)
n.711-3C>G
c.447-3C>G (n.447-3C>G)
c.234-3C>G (n.234-3C>G)
 gnomAD v4
11g.121496866C>TCA602586433SORL1c.759-3C>T (n.759-3C>T)
n.711-3C>T
c.447-3C>T (n.447-3C>T)
c.234-3C>T (n.234-3C>T)
 dbSNP gnomAD v2 gnomAD v4
11g.121496866_121496867delCA2793899652SORL1c.759-3_759-2del (n.759-3_759-2del)
n.711-3_711-2del
c.447-3_447-2del (n.447-3_447-2del)
c.234-3_234-2del (n.234-3_234-2del)
11g.121496866_121496867delinsCACA2004892435SORL1c.759-3_759-2delinsCA (n.759-3_759-2delinsCA)
n.711-3_711-2delinsCA
c.447-3_447-2delinsCA (n.447-3_447-2delinsCA)
c.234-3_234-2delinsCA (n.234-3_234-2delinsCA)
11g.121496867delCA602586434SORL1c.759-2del (n.759-2del)
n.711-2del
c.447-2del (n.447-2del)
c.234-2del (n.234-2del)
 dbSNP gnomAD v2 gnomAD v4
11g.121496867A=CA2004892441SORL1c.759-2A= (n.759-2A=)
n.711-2A=
c.447-2A= (n.447-2A=)
c.234-2A= (n.234-2A=)
11g.121496867A>CCA383286652SORL1c.759-2A>C (n.759-2A>C)
n.711-2A>C
c.447-2A>C (n.447-2A>C)
c.234-2A>C (n.234-2A>C)
 gnomAD v4
11g.121496867A>GCA383286653SORL1c.759-2A>G (n.759-2A>G)
n.711-2A>G
c.447-2A>G (n.447-2A>G)
c.234-2A>G (n.234-2A>G)
 gnomAD v4
11g.121496867A>TCA383286654SORL1c.759-2A>T (n.759-2A>T)
n.711-2A>T
c.447-2A>T (n.447-2A>T)
c.234-2A>T (n.234-2A>T)
 gnomAD v4
11g.121496867_121496868insTTTTCA912971684SORL1c.759-2_759-1insTTTT (n.759-2_759-1insTTTT)
n.711-2_711-1insTTTT
c.447-2_447-1insTTTT (n.447-2_447-1insTTTT)
c.234-2_234-1insTTTT (n.234-2_234-1insTTTT)
11g.121496867_121496868insTTTTTCA602586435SORL1c.759-2_759-1insTTTTT (n.759-2_759-1insTTTTT)
n.711-2_711-1insTTTTT
c.447-2_447-1insTTTTT (n.447-2_447-1insTTTTT)
c.234-2_234-1insTTTTT (n.234-2_234-1insTTTTT)
 dbSNP gnomAD v2
11g.121496868G>ACA383286655SORL1c.759-1G>A (n.759-1G>A)
n.711-1G>A
c.447-1G>A (n.447-1G>A)
c.234-1G>A (n.234-1G>A)
 dbSNP gnomAD v4
11g.121496868G>CCA383286657SORL1c.759-1G>C (n.759-1G>C)
n.711-1G>C
c.447-1G>C (n.447-1G>C)
c.234-1G>C (n.234-1G>C)
11g.121496868G=CA2004892447SORL1c.759-1G= (n.759-1G=)
n.711-1G=
c.447-1G= (n.447-1G=)
c.234-1G= (n.234-1G=)
11g.121496868G>TCA383286656SORL1c.759-1G>T (n.759-1G>T)
n.711-1G>T
c.447-1G>T (n.447-1G>T)
c.234-1G>T (n.234-1G>T)
 gnomAD v3 gnomAD v4
11g.121496871delCA2616495968SORL1c.761del
n.713del
c.449del
c.236del
 gnomAD v4
11g.121496868_121496869insTTTTTCA912971685SORL1c.759-1_759insTTTTT (n.759-1_759insTTTTT)
n.711-1_711insTTTTT
c.447-1_447insTTTTT (n.447-1_447insTTTTT)
c.234-1_234insTTTTT (n.234-1_234insTTTTT)
11g.121496869G>ACA383286658SORL1c.759G>A (p.Trp253Ter)
n.711G>A
c.447G>A (p.Trp149Ter)
c.234G>A (p.Trp78Ter)
 gnomAD v4
11g.121496869G>CCA383286659SORL1c.759G>C (p.Trp253Cys)
n.711G>C
c.447G>C (p.Trp149Cys)
c.234G>C (p.Trp78Cys)
11g.121496869G>TCA383286660SORL1c.759G>T (p.Trp253Cys)
n.711G>T
c.447G>T (p.Trp149Cys)
c.234G>T (p.Trp78Cys)
 gnomAD v4
11g.121496870G>ACA383286661SORL1c.760G>A (p.Gly254Arg)
n.712G>A
c.448G>A (p.Gly150Arg)
c.235G>A (p.Gly79Arg)
 gnomAD v4
11g.121496870G>CCA383286662SORL1c.760G>C (p.Gly254Arg)
n.712G>C
c.448G>C (p.Gly150Arg)
c.235G>C (p.Gly79Arg)
11g.121496870G>TCA383286663SORL1c.760G>T (p.Gly254Ter)
n.712G>T
c.448G>T (p.Gly150Ter)
c.235G>T (p.Gly79Ter)
 gnomAD v4
11g.121496871G>ACA383286664SORL1c.761G>A (p.Gly254Glu)
n.713G>A
c.449G>A (p.Gly150Glu)
c.236G>A (p.Gly79Glu)
 gnomAD v4
11g.121496871G>CCA383286665SORL1c.761G>C (p.Gly254Ala)
n.713G>C
c.449G>C (p.Gly150Ala)
c.236G>C (p.Gly79Ala)
 dbSNP
11g.121496871G=CA2004892452SORL1c.761G= (p.Gly254=)
n.713G=
c.449G= (p.Gly150=)
c.236G= (p.Gly79=)
11g.121496871G>TCA383286666SORL1c.761G>T (p.Gly254Val)
n.713G>T
c.449G>T (p.Gly150Val)
c.236G>T (p.Gly79Val)
 gnomAD v4
11g.121496872A>CCA477310006SORL1c.762A>C (p.Gly254=)
n.714A>C
c.450A>C (p.Gly150=)
c.237A>C (p.Gly79=)
11g.121496872A>GCA477310007SORL1c.762A>G (p.Gly254=)
n.714A>G
c.450A>G (p.Gly150=)
c.237A>G (p.Gly79=)
 gnomAD v4
11g.121496872A>TCA477310008SORL1c.762A>T (p.Gly254=)
n.714A>T
c.450A>T (p.Gly150=)
c.237A>T (p.Gly79=)
 gnomAD v4
11g.121496872_121496873insTTTTTGTTTCA942949621SORL1c.762_763insTTTTTGTTT (p.Gly254_Ile255insPheLeuPhe)
n.714_715insTTTTTGTTT
c.450_451insTTTTTGTTT (p.Gly150_Ile151insPheLeuPhe)
c.237_238insTTTTTGTTT (p.Gly79_Ile80insPheLeuPhe)
 gnomAD v3 gnomAD v4
11g.121496872_121496873insTTTTTTTTTCA942949622SORL1c.762_763insTTTTTTTTT (p.Gly254_Ile255insPhePhePhe)
n.714_715insTTTTTTTTT
c.450_451insTTTTTTTTT (p.Gly150_Ile151insPhePhePhe)
c.237_238insTTTTTTTTT (p.Gly79_Ile80insPhePhePhe)
11g.121496873A=CA2004892455SORL1c.763A= (p.Ile255=)
n.715A=
c.451A= (p.Ile151=)
c.238A= (p.Ile80=)
11g.121496873A>CCA383286667SORL1c.763A>C (p.Ile255Leu)
n.715A>C
c.451A>C (p.Ile151Leu)
c.238A>C (p.Ile80Leu)
11g.121496873A>GCA6328471SORL1c.763A>G (p.Ile255Val)
n.715A>G
c.451A>G (p.Ile151Val)
c.238A>G (p.Ile80Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121496873A>TCA383286668SORL1c.763A>T (p.Ile255Phe)
n.715A>T
c.451A>T (p.Ile151Phe)
c.238A>T (p.Ile80Phe)
11g.121496874T>ACA383286670SORL1c.764T>A (p.Ile255Asn)
n.716T>A
c.452T>A (p.Ile151Asn)
c.239T>A (p.Ile80Asn)
11g.121496874T>CCA6328472SORL1c.764T>C (p.Ile255Thr)
n.716T>C
c.452T>C (p.Ile151Thr)
c.239T>C (p.Ile80Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121496874T>GCA383286669SORL1c.764T>G (p.Ile255Ser)
n.716T>G
c.452T>G (p.Ile151Ser)
c.239T>G (p.Ile80Ser)
11g.121496874T=CA2004892458SORL1c.764T= (p.Ile255=)
n.716T=
c.452T= (p.Ile151=)
c.239T= (p.Ile80=)
11g.121496875T>ACA477310009SORL1c.765T>A (p.Ile255=)
n.717T>A
c.453T>A (p.Ile151=)
c.240T>A (p.Ile80=)
11g.121496875T>CCA477310010SORL1c.765T>C (p.Ile255=)
n.717T>C
c.453T>C (p.Ile151=)
c.240T>C (p.Ile80=)
11g.121496875T>GCA383286671SORL1c.765T>G (p.Ile255Met)
n.717T>G
c.453T>G (p.Ile151Met)
c.240T>G (p.Ile80Met)
 gnomAD v4
11g.121496876G>ACA229977186SORL1c.766G>A (p.Asp256Asn)
n.718G>A
c.454G>A (p.Asp152Asn)
c.241G>A (p.Asp81Asn)
 dbSNP gnomAD v3 gnomAD v4
11g.121496876G>CCA383286672SORL1c.766G>C (p.Asp256His)
n.718G>C
c.454G>C (p.Asp152His)
c.241G>C (p.Asp81His)
11g.121496876G=CA2004892462SORL1c.766G= (p.Asp256=)
n.718G=
c.454G= (p.Asp152=)
c.241G= (p.Asp81=)
11g.121496876G>TCA383286673SORL1c.766G>T (p.Asp256Tyr)
n.718G>T
c.454G>T (p.Asp152Tyr)
c.241G>T (p.Asp81Tyr)
 dbSNP gnomAD v3 gnomAD v4
11g.121496876_121496877delCA942949628SORL1c.766_767del (p.Asp256SerfsTer3)
n.718_719del
c.454_455del (p.Asp152SerfsTer3)
c.241_242del (p.Asp81SerfsTer3)
 gnomAD v3 gnomAD v4
11g.121496877A>CCA383286674SORL1c.767A>C (p.Asp256Ala)
n.719A>C
c.455A>C (p.Asp152Ala)
c.242A>C (p.Asp81Ala)
11g.121496877A>GCA383286675SORL1c.767A>G (p.Asp256Gly)
n.719A>G
c.455A>G (p.Asp152Gly)
c.242A>G (p.Asp81Gly)
 gnomAD v4
11g.121496877A>TCA383286676SORL1c.767A>T (p.Asp256Val)
n.719A>T
c.455A>T (p.Asp152Val)
c.242A>T (p.Asp81Val)
 gnomAD v3 gnomAD v4
11g.121496878T>ACA383286677SORL1c.768T>A (p.Asp256Glu)
n.720T>A
c.456T>A (p.Asp152Glu)
c.243T>A (p.Asp81Glu)
11g.121496878T>CCA477310011SORL1c.768T>C (p.Asp256=)
n.720T>C
c.456T>C (p.Asp152=)
c.243T>C (p.Asp81=)
11g.121496878T>GCA383286678SORL1c.768T>G (p.Asp256Glu)
n.720T>G
c.456T>G (p.Asp152Glu)
c.243T>G (p.Asp81Glu)
11g.121496879C>ACA383286679SORL1c.769C>A (p.Pro257Thr)
n.721C>A
c.457C>A (p.Pro153Thr)
c.244C>A (p.Pro82Thr)
 gnomAD v4
11g.121496879C=CA2004892465SORL1c.769C= (p.Pro257=)
n.721C=
c.457C= (p.Pro153=)
c.244C= (p.Pro82=)
11g.121496879C>GCA383286680SORL1c.769C>G (p.Pro257Ala)
n.721C>G
c.457C>G (p.Pro153Ala)
c.244C>G (p.Pro82Ala)
 gnomAD v4
11g.121496879C>TCA383286681SORL1c.769C>T (p.Pro257Ser)
n.721C>T
c.457C>T (p.Pro153Ser)
c.244C>T (p.Pro82Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121496880C>ACA383286682SORL1c.770C>A (p.Pro257His)
n.722C>A
c.458C>A (p.Pro153His)
c.245C>A (p.Pro82His)
 gnomAD v4
11g.121496880C=CA2004892468SORL1c.770C= (p.Pro257=)
n.722C=
c.458C= (p.Pro153=)
c.245C= (p.Pro82=)
11g.121496880C>GCA383286684SORL1c.770C>G (p.Pro257Arg)
n.722C>G
c.458C>G (p.Pro153Arg)
c.245C>G (p.Pro82Arg)
11g.121496880C>TCA383286683SORL1c.770C>T (p.Pro257Leu)
n.722C>T
c.458C>T (p.Pro153Leu)
c.245C>T (p.Pro82Leu)
 dbSNP
11g.121496881C>ACA477310012SORL1c.771C>A (p.Pro257=)
n.723C>A
c.459C>A (p.Pro153=)
c.246C>A (p.Pro82=)
11g.121496881C>GCA477310013SORL1c.771C>G (p.Pro257=)
n.723C>G
c.459C>G (p.Pro153=)
c.246C>G (p.Pro82=)
11g.121496881C>TCA477310014SORL1c.771C>T (p.Pro257=)
n.723C>T
c.459C>T (p.Pro153=)
c.246C>T (p.Pro82=)
11g.121496882T>ACA383286685SORL1c.772T>A (p.Tyr258Asn)
n.724T>A
c.460T>A (p.Tyr154Asn)
c.247T>A (p.Tyr83Asn)
11g.121496882T>CCA383286686SORL1c.772T>C (p.Tyr258His)
n.724T>C
c.460T>C (p.Tyr154His)
c.247T>C (p.Tyr83His)
11g.121496882T>GCA383286687SORL1c.772T>G (p.Tyr258Asp)
n.724T>G
c.460T>G (p.Tyr154Asp)
c.247T>G (p.Tyr83Asp)
11g.121496883A=CA2004892471SORL1c.773A= (p.Tyr258=)
n.725A=
c.461A= (p.Tyr154=)
c.248A= (p.Tyr83=)
11g.121496883A>CCA6328473SORL1c.773A>C (p.Tyr258Ser)
n.725A>C
c.461A>C (p.Tyr154Ser)
c.248A>C (p.Tyr83Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121496883A>GCA383286688SORL1c.773A>G (p.Tyr258Cys)
n.725A>G
c.461A>G (p.Tyr154Cys)
c.248A>G (p.Tyr83Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.121496883A>TCA383286689SORL1c.773A>T (p.Tyr258Phe)
n.725A>T
c.461A>T (p.Tyr154Phe)
c.248A>T (p.Tyr83Phe)
 gnomAD v4
11g.121496884T>ACA383286690SORL1c.774T>A (p.Tyr258Ter)
n.726T>A
c.462T>A (p.Tyr154Ter)
c.249T>A (p.Tyr83Ter)
11g.121496884T>CCA477310015SORL1c.774T>C (p.Tyr258=)
n.726T>C
c.462T>C (p.Tyr154=)
c.249T>C (p.Tyr83=)
11g.121496884T>GCA383286691SORL1c.774T>G (p.Tyr258Ter)
n.726T>G
c.462T>G (p.Tyr154Ter)
c.249T>G (p.Tyr83Ter)
11g.121496885G>ACA383286692SORL1c.775G>A (p.Asp259Asn)
n.727G>A
c.463G>A (p.Asp155Asn)
c.250G>A (p.Asp84Asn)
11g.121496885G>CCA383286693SORL1c.775G>C (p.Asp259His)
n.727G>C
c.463G>C (p.Asp155His)
c.250G>C (p.Asp84His)
11g.121496885G=CA2004892474SORL1c.775G= (p.Asp259=)
n.727G=
c.463G= (p.Asp155=)
c.250G= (p.Asp84=)
11g.121496885G>TCA6328474SORL1c.775G>T (p.Asp259Tyr)
n.727G>T
c.463G>T (p.Asp155Tyr)
c.250G>T (p.Asp84Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121496886A>CCA383286694SORL1c.776A>C (p.Asp259Ala)
n.728A>C
c.464A>C (p.Asp155Ala)
c.251A>C (p.Asp84Ala)
11g.121496886A>GCA383286695SORL1c.776A>G (p.Asp259Gly)
n.728A>G
c.464A>G (p.Asp155Gly)
c.251A>G (p.Asp84Gly)
11g.121496886A>TCA383286696SORL1c.776A>T (p.Asp259Val)
n.728A>T
c.464A>T (p.Asp155Val)
c.251A>T (p.Asp84Val)
11g.121496887C>ACA383286698SORL1c.777C>A (p.Asp259Glu)
n.729C>A
c.465C>A (p.Asp155Glu)
c.252C>A (p.Asp84Glu)
 gnomAD v4
11g.121496887C>GCA383286697SORL1c.777C>G (p.Asp259Glu)
n.729C>G
c.465C>G (p.Asp155Glu)
c.252C>G (p.Asp84Glu)
11g.121496887C>TCA477310016SORL1c.777C>T (p.Asp259=)
n.729C>T
c.465C>T (p.Asp155=)
c.252C>T (p.Asp84=)
11g.121496888A>CCA383286699SORL1c.778A>C (p.Lys260Gln)
n.730A>C
c.466A>C (p.Lys156Gln)
c.253A>C (p.Lys85Gln)
11g.121496888A>GCA383286700SORL1c.778A>G (p.Lys260Glu)
n.730A>G
c.466A>G (p.Lys156Glu)
c.253A>G (p.Lys85Glu)
11g.121496888A>TCA383286701SORL1c.778A>T (p.Lys260Ter)
n.730A>T
c.466A>T (p.Lys156Ter)
c.253A>T (p.Lys85Ter)
11g.121496889A>CCA383286702SORL1c.779A>C (p.Lys260Thr)
n.731A>C
c.467A>C (p.Lys156Thr)
c.254A>C (p.Lys85Thr)
11g.121496889A>GCA383286703SORL1c.779A>G (p.Lys260Arg)
n.731A>G
c.467A>G (p.Lys156Arg)
c.254A>G (p.Lys85Arg)
11g.121496889A>TCA383286704SORL1c.779A>T (p.Lys260Ile)
n.731A>T
c.467A>T (p.Lys156Ile)
c.254A>T (p.Lys85Ile)
11g.121496890A>CCA383286706SORL1c.780A>C (p.Lys260Asn)
n.732A>C
c.468A>C (p.Lys156Asn)
c.255A>C (p.Lys85Asn)
11g.121496890A>GCA477310017SORL1c.780A>G (p.Lys260=)
n.732A>G
c.468A>G (p.Lys156=)
c.255A>G (p.Lys85=)
 gnomAD v4
11g.121496890A>TCA383286705SORL1c.780A>T (p.Lys260Asn)
n.732A>T
c.468A>T (p.Lys156Asn)
c.255A>T (p.Lys85Asn)
11g.121496891C>ACA383286707SORL1c.781C>A (p.Pro261Thr)
n.733C>A
c.469C>A (p.Pro157Thr)
c.256C>A (p.Pro86Thr)
 dbSNP gnomAD v3 gnomAD v4
11g.121496891C>GCA383286708SORL1c.781C>G (p.Pro261Ala)
n.733C>G
c.469C>G (p.Pro157Ala)
c.256C>G (p.Pro86Ala)
11g.121496891C>TCA383286709SORL1c.781C>T (p.Pro261Ser)
n.733C>T
c.469C>T (p.Pro157Ser)
c.256C>T (p.Pro86Ser)
11g.121496892C>ACA383286710SORL1c.782C>A (p.Pro261Gln)
n.734C>A
c.470C>A (p.Pro157Gln)
c.257C>A (p.Pro86Gln)
 gnomAD v4
11g.121496892C>GCA383286711SORL1c.782C>G (p.Pro261Arg)
n.734C>G
c.470C>G (p.Pro157Arg)
c.257C>G (p.Pro86Arg)
11g.121496892C>TCA383286712SORL1c.782C>T (p.Pro261Leu)
n.734C>T
c.470C>T (p.Pro157Leu)
c.257C>T (p.Pro86Leu)
11g.121496893A>CCA477310018SORL1c.783A>C (p.Pro261=)
n.735A>C
c.471A>C (p.Pro157=)
c.258A>C (p.Pro86=)
11g.121496893A>GCA477310019SORL1c.783A>G (p.Pro261=)
n.735A>G
c.471A>G (p.Pro157=)
c.258A>G (p.Pro86=)
 gnomAD v4
11g.121496893A>TCA477310020SORL1c.783A>T (p.Pro261=)
n.735A>T
c.471A>T (p.Pro157=)
c.258A>T (p.Pro86=)
11g.121496894A>CCA383286715SORL1c.784A>C (p.Asn262His)
n.736A>C
c.472A>C (p.Asn158His)
c.259A>C (p.Asn87His)
11g.121496894A>GCA383286713SORL1c.784A>G (p.Asn262Asp)
n.736A>G
c.472A>G (p.Asn158Asp)
c.259A>G (p.Asn87Asp)
 gnomAD v4
11g.121496894A>TCA383286714SORL1c.784A>T (p.Asn262Tyr)
n.736A>T
c.472A>T (p.Asn158Tyr)
c.259A>T (p.Asn87Tyr)
11g.121496895A=CA2004892477SORL1c.785A= (p.Asn262=)
n.737A=
c.473A= (p.Asn158=)
c.260A= (p.Asn87=)
11g.121496895A>CCA383286716SORL1c.785A>C (p.Asn262Thr)
n.737A>C
c.473A>C (p.Asn158Thr)
c.260A>C (p.Asn87Thr)
11g.121496895A>GCA383286717SORL1c.785A>G (p.Asn262Ser)
n.737A>G
c.473A>G (p.Asn158Ser)
c.260A>G (p.Asn87Ser)
 dbSNP gnomAD v4
11g.121496895A>TCA383286718SORL1c.785A>T (p.Asn262Ile)
n.737A>T
c.473A>T (p.Asn158Ile)
c.260A>T (p.Asn87Ile)
11g.121496896T>ACA383286719SORL1c.786T>A (p.Asn262Lys)
n.738T>A
c.474T>A (p.Asn158Lys)
c.261T>A (p.Asn87Lys)
11g.121496896T>CCA477310021SORL1c.786T>C (p.Asn262=)
n.738T>C
c.474T>C (p.Asn158=)
c.261T>C (p.Asn87=)
 COSMIC
11g.121496896T>GCA383286720SORL1c.786T>G (p.Asn262Lys)
n.738T>G
c.474T>G (p.Asn158Lys)
c.261T>G (p.Asn87Lys)
11g.121496897A>CCA383286721SORL1c.787A>C (p.Thr263Pro)
n.739A>C
c.475A>C (p.Thr159Pro)
c.262A>C (p.Thr88Pro)
11g.121496897A>GCA383286722SORL1c.787A>G (p.Thr263Ala)
n.739A>G
c.475A>G (p.Thr159Ala)
c.262A>G (p.Thr88Ala)
 gnomAD v4
11g.121496897A>TCA383286723SORL1c.787A>T (p.Thr263Ser)
n.739A>T
c.475A>T (p.Thr159Ser)
c.262A>T (p.Thr88Ser)
11g.121496898C>ACA383286724SORL1c.788C>A (p.Thr263Asn)
n.740C>A
c.476C>A (p.Thr159Asn)
c.263C>A (p.Thr88Asn)
11g.121496898C>GCA383286725SORL1c.788C>G (p.Thr263Ser)
n.740C>G
c.476C>G (p.Thr159Ser)
c.263C>G (p.Thr88Ser)
11g.121496898C>TCA383286726SORL1c.788C>T (p.Thr263Ile)
n.740C>T
c.476C>T (p.Thr159Ile)
c.263C>T (p.Thr88Ile)
 gnomAD v4
11g.121496899delCA2793899666SORL1c.789del (p.Ile264SerfsTer29)
n.741del
c.477del (p.Ile160SerfsTer29)
c.264del (p.Ile89SerfsTer29)
11g.121496899C>ACA229977196SORL1c.789C>A (p.Thr263=)
n.741C>A
c.477C>A (p.Thr159=)
c.264C>A (p.Thr88=)
 dbSNP
11g.121496899C=CA2004892480SORL1c.789C= (p.Thr263=)
n.741C=
c.477C= (p.Thr159=)
c.264C= (p.Thr88=)
11g.121496899C>GCA477310022SORL1c.789C>G (p.Thr263=)
n.741C>G
c.477C>G (p.Thr159=)
c.264C>G (p.Thr88=)
11g.121496899C>TCA229977206SORL1c.789C>T (p.Thr263=)
n.741C>T
c.477C>T (p.Thr159=)
c.264C>T (p.Thr88=)
 dbSNP gnomAD v3 gnomAD v4
11g.121496900A>CCA383286729SORL1c.790A>C (p.Ile264Leu)
n.742A>C
c.478A>C (p.Ile160Leu)
c.265A>C (p.Ile89Leu)
11g.121496900A>GCA383286728SORL1c.790A>G (p.Ile264Val)
n.742A>G
c.478A>G (p.Ile160Val)
c.265A>G (p.Ile89Val)
 gnomAD v4
11g.121496900A>TCA383286727SORL1c.790A>T (p.Ile264Phe)
n.742A>T
c.478A>T (p.Ile160Phe)
c.265A>T (p.Ile89Phe)
11g.121496901T>ACA383286730SORL1c.791T>A (p.Ile264Asn)
n.743T>A
c.479T>A (p.Ile160Asn)
c.266T>A (p.Ile89Asn)
11g.121496901T>CCA6328475SORL1c.791T>C (p.Ile264Thr)
n.743T>C
c.479T>C (p.Ile160Thr)
c.266T>C (p.Ile89Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121496901T>GCA383286731SORL1c.791T>G (p.Ile264Ser)
n.743T>G
c.479T>G (p.Ile160Ser)
c.266T>G (p.Ile89Ser)
11g.121496901T=CA2004892482SORL1c.791T= (p.Ile264=)
n.743T=
c.479T= (p.Ile160=)
c.266T= (p.Ile89=)
11g.121496902C>ACA477310023SORL1c.792C>A (p.Ile264=)
n.744C>A
c.480C>A (p.Ile160=)
c.267C>A (p.Ile89=)
11g.121496902C=CA2004892484SORL1c.792C= (p.Ile264=)
n.744C=
c.480C= (p.Ile160=)
c.267C= (p.Ile89=)
11g.121496902C>GCA383286732SORL1c.792C>G (p.Ile264Met)
n.744C>G
c.480C>G (p.Ile160Met)
c.267C>G (p.Ile89Met)
11g.121496902C>TCA477310024SORL1c.792C>T (p.Ile264=)
n.744C>T
c.480C>T (p.Ile160=)
c.267C>T (p.Ile89=)
 dbSNP
11g.121496903T>ACA383286733SORL1c.793T>A (p.Tyr265Asn)
n.745T>A
c.481T>A (p.Tyr161Asn)
c.268T>A (p.Tyr90Asn)
11g.121496903T>CCA383286734SORL1c.793T>C (p.Tyr265His)
n.745T>C
c.481T>C (p.Tyr161His)
c.268T>C (p.Tyr90His)
11g.121496903T>GCA383286735SORL1c.793T>G (p.Tyr265Asp)
n.745T>G
c.481T>G (p.Tyr161Asp)
c.268T>G (p.Tyr90Asp)
11g.121496904A>CCA383286736SORL1c.794A>C (p.Tyr265Ser)
n.746A>C
c.482A>C (p.Tyr161Ser)
c.269A>C (p.Tyr90Ser)
11g.121496904A>GCA383286737SORL1c.794A>G (p.Tyr265Cys)
n.746A>G
c.482A>G (p.Tyr161Cys)
c.269A>G (p.Tyr90Cys)
11g.121496904A>TCA383286738SORL1c.794A>T (p.Tyr265Phe)
n.746A>T
c.482A>T (p.Tyr161Phe)
c.269A>T (p.Tyr90Phe)
11g.121496905C>ACA383286739SORL1c.795C>A (p.Tyr265Ter)
n.747C>A
c.483C>A (p.Tyr161Ter)
c.270C>A (p.Tyr90Ter)
11g.121496905C=CA2004892487SORL1c.795C= (p.Tyr265=)
n.747C=
c.483C= (p.Tyr161=)
c.270C= (p.Tyr90=)
11g.121496905C>GCA383286740SORL1c.795C>G (p.Tyr265Ter)
n.747C>G
c.483C>G (p.Tyr161Ter)
c.270C>G (p.Tyr90Ter)
11g.121496905C>TCA6328476SORL1c.795C>T (p.Tyr265=)
n.747C>T
c.483C>T (p.Tyr161=)
c.270C>T (p.Tyr90=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121496906A>CCA383286742SORL1c.796A>C (p.Ile266Leu)
n.748A>C
c.484A>C (p.Ile162Leu)
c.271A>C (p.Ile91Leu)
11g.121496906A>GCA383286743SORL1c.796A>G (p.Ile266Val)
n.748A>G
c.484A>G (p.Ile162Val)
c.271A>G (p.Ile91Val)
 gnomAD v4
11g.121496906A>TCA383286741SORL1c.796A>T (p.Ile266Phe)
n.748A>T
c.484A>T (p.Ile162Phe)
c.271A>T (p.Ile91Phe)
11g.121496907T>ACA383286744SORL1c.797T>A (p.Ile266Asn)
n.749T>A
c.485T>A (p.Ile162Asn)
c.272T>A (p.Ile91Asn)
11g.121496907T>CCA6328477SORL1c.797T>C (p.Ile266Thr)
n.749T>C
c.485T>C (p.Ile162Thr)
c.272T>C (p.Ile91Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121496907T>GCA383286745SORL1c.797T>G (p.Ile266Ser)
n.749T>G
c.485T>G (p.Ile162Ser)
c.272T>G (p.Ile91Ser)
11g.121496907T=CA2004892495SORL1c.797T= (p.Ile266=)
n.749T=
c.485T= (p.Ile162=)
c.272T= (p.Ile91=)
11g.121496908T>ACA477310025SORL1c.798T>A (p.Ile266=)
n.750T>A
c.486T>A (p.Ile162=)
c.273T>A (p.Ile91=)
11g.121496908T>CCA6328478SORL1c.798T>C (p.Ile266=)
n.750T>C
c.486T>C (p.Ile162=)
c.273T>C (p.Ile91=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121496908T>GCA383286746SORL1c.798T>G (p.Ile266Met)
n.750T>G
c.486T>G (p.Ile162Met)
c.273T>G (p.Ile91Met)
11g.121496908T=CA2004892499SORL1c.798T= (p.Ile266=)
n.750T=
c.486T= (p.Ile162=)
c.273T= (p.Ile91=)
11g.121496909G>ACA383286747SORL1c.799G>A (p.Glu267Lys)
n.751G>A
c.487G>A (p.Glu163Lys)
c.274G>A (p.Glu92Lys)
11g.121496909G>CCA383286748SORL1c.799G>C (p.Glu267Gln)
n.751G>C
c.487G>C (p.Glu163Gln)
c.274G>C (p.Glu92Gln)
11g.121496909G>TCA383286749SORL1c.799G>T (p.Glu267Ter)
n.751G>T
c.487G>T (p.Glu163Ter)
c.274G>T (p.Glu92Ter)
 gnomAD v4
11g.121496910A>CCA383286750SORL1c.800A>C (p.Glu267Ala)
n.752A>C
c.488A>C (p.Glu163Ala)
c.275A>C (p.Glu92Ala)
 dbSNP
11g.121496910A>GCA383286751SORL1c.800A>G (p.Glu267Gly)
n.752A>G
c.488A>G (p.Glu163Gly)
c.275A>G (p.Glu92Gly)
11g.121496910A>TCA383286752SORL1c.800A>T (p.Glu267Val)
n.752A>T
c.488A>T (p.Glu163Val)
c.275A>T (p.Glu92Val)
11g.121496911A>CCA383286753SORL1c.801A>C (p.Glu267Asp)
n.753A>C
c.489A>C (p.Glu163Asp)
c.276A>C (p.Glu92Asp)
11g.121496911A>GCA477310026SORL1c.801A>G (p.Glu267=)
n.753A>G
c.489A>G (p.Glu163=)
c.276A>G (p.Glu92=)
11g.121496911A>TCA383286754SORL1c.801A>T (p.Glu267Asp)
n.753A>T
c.489A>T (p.Glu163Asp)
c.276A>T (p.Glu92Asp)
11g.121496912C>ACA477310027SORL1c.802C>A (p.Arg268=)
n.754C>A
c.490C>A (p.Arg164=)
c.277C>A (p.Arg93=)
11g.121496912C=CA2004892503SORL1c.802C= (p.Arg268=)
n.754C=
c.490C= (p.Arg164=)
c.277C= (p.Arg93=)
11g.121496912C>GCA383286755SORL1c.802C>G (p.Arg268Gly)
n.754C>G
c.490C>G (p.Arg164Gly)
c.277C>G (p.Arg93Gly)
11g.121496912C>TCA383286756SORL1c.802C>T (p.Arg268Ter)
n.754C>T
c.490C>T (p.Arg164Ter)
c.277C>T (p.Arg93Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121496913G>ACA383286757SORL1c.803G>A (p.Arg268Gln)
n.755G>A
c.491G>A (p.Arg164Gln)
c.278G>A (p.Arg93Gln)
 gnomAD v4
11g.121496913G>CCA383286759SORL1c.803G>C (p.Arg268Pro)
n.755G>C
c.491G>C (p.Arg164Pro)
c.278G>C (p.Arg93Pro)
11g.121496913G>TCA383286758SORL1c.803G>T (p.Arg268Leu)
n.755G>T
c.491G>T (p.Arg164Leu)
c.278G>T (p.Arg93Leu)
11g.121496914A>CCA477310028SORL1c.804A>C (p.Arg268=)
n.756A>C
c.492A>C (p.Arg164=)
c.279A>C (p.Arg93=)
11g.121496914A>GCA477310029SORL1c.804A>G (p.Arg268=)
n.756A>G
c.492A>G (p.Arg164=)
c.279A>G (p.Arg93=)
11g.121496914A>TCA477310030SORL1c.804A>T (p.Arg268=)
n.756A>T
c.492A>T (p.Arg164=)
c.279A>T (p.Arg93=)
11g.121496915C>ACA383286760SORL1c.805C>A (p.His269Asn)
n.757C>A
c.493C>A (p.His165Asn)
c.280C>A (p.His94Asn)
11g.121496915C>GCA383286761SORL1c.805C>G (p.His269Asp)
n.757C>G
c.493C>G (p.His165Asp)
c.280C>G (p.His94Asp)
 gnomAD v4
11g.121496915C>TCA383286762SORL1c.805C>T (p.His269Tyr)
n.757C>T
c.493C>T (p.His165Tyr)
c.280C>T (p.His94Tyr)
11g.121496916A=CA2004892506SORL1c.806A= (p.His269=)
n.758A=
c.494A= (p.His165=)
c.281A= (p.His94=)
11g.121496916A>CCA383286763SORL1c.806A>C (p.His269Pro)
n.758A>C
c.494A>C (p.His165Pro)
c.281A>C (p.His94Pro)
11g.121496916A>GCA383286764SORL1c.806A>G (p.His269Arg)
n.758A>G
c.494A>G (p.His165Arg)
c.281A>G (p.His94Arg)
11g.121496916A>TCA383286765SORL1c.806A>T (p.His269Leu)
n.758A>T
c.494A>T (p.His165Leu)
c.281A>T (p.His94Leu)
11g.121496917T>ACA383286766SORL1c.807T>A (p.His269Gln)
n.759T>A
c.495T>A (p.His165Gln)
c.282T>A (p.His94Gln)
 dbSNP gnomAD v4
11g.121496917T>CCA6328479SORL1c.807T>C (p.His269=)
n.759T>C
c.495T>C (p.His165=)
c.282T>C (p.His94=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121496917T>GCA383286767SORL1c.807T>G (p.His269Gln)
n.759T>G
c.495T>G (p.His165Gln)
c.282T>G (p.His94Gln)
 dbSNP gnomAD v2 gnomAD v4
11g.121496917T=CA2004892514SORL1c.807T= (p.His269=)
n.759T=
c.495T= (p.His165=)
c.282T= (p.His94=)
11g.121496917_121496918delinsCACA2004892517SORL1c.807_808delinsCA (p.Glu270Lys)
n.759_760delinsCA
c.495_496delinsCA (p.Glu166Lys)
c.282_283delinsCA (p.Glu95Lys)
 ClinVar dbSNP
11g.121496917_121496918delinsTGCA2004892516SORL1c.807_808delinsTG (p.His269=)
n.759_760delinsTG
c.495_496delinsTG (p.His165=)
c.282_283delinsTG (p.His94=)
11g.121496917_121496918dupCA229977236SORL1c.807_808dup (p.Glu270ValfsTer24)
n.759_760dup
c.495_496dup (p.Glu166ValfsTer24)
c.282_283dup (p.Glu95ValfsTer24)
 dbSNP
11g.121496918G>ACA6328480SORL1c.808G>A (p.Glu270Lys)
n.760G>A
c.496G>A (p.Glu166Lys)
c.283G>A (p.Glu95Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121496918G>CCA383286768SORL1c.808G>C (p.Glu270Gln)
n.760G>C
c.496G>C (p.Glu166Gln)
c.283G>C (p.Glu95Gln)
11g.121496918G=CA2004892521SORL1c.808G= (p.Glu270=)
n.760G=
c.496G= (p.Glu166=)
c.283G= (p.Glu95=)
11g.121496918G>TCA229977246SORL1c.808G>T (p.Glu270Ter)
n.760G>T
c.496G>T (p.Glu166Ter)
c.283G>T (p.Glu95Ter)
 dbSNP

Number of alleles fetched