Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.121558680A>CCA383035855SORL1c.2753A>C (p.Glu918Ala)
n.481A>C
n.459A>C
c.1214A>C (p.Glu405Ala)
c.113A>C (p.Glu38Ala)
c.2441A>C (p.Glu814Ala)
c.2228A>C (p.Glu743Ala)
11g.121558680A>GCA383035856SORL1c.2753A>G (p.Glu918Gly)
n.481A>G
n.459A>G
c.1214A>G (p.Glu405Gly)
c.113A>G (p.Glu38Gly)
c.2441A>G (p.Glu814Gly)
c.2228A>G (p.Glu743Gly)
11g.121558680A>TCA383035857SORL1c.2753A>T (p.Glu918Val)
n.481A>T
n.459A>T
c.1214A>T (p.Glu405Val)
c.113A>T (p.Glu38Val)
c.2441A>T (p.Glu814Val)
c.2228A>T (p.Glu743Val)
11g.121558681G>ACA6329053SORL1c.2754G>A (p.Glu918=)
n.482G>A
n.460G>A
c.1215G>A (p.Glu405=)
c.114G>A (p.Glu38=)
c.2442G>A (p.Glu814=)
c.2229G>A (p.Glu743=)
 dbSNP ExAC gnomAD v2
11g.121558681G>CCA383035859SORL1c.2754G>C (p.Glu918Asp)
n.482G>C
n.460G>C
c.1215G>C (p.Glu405Asp)
c.114G>C (p.Glu38Asp)
c.2442G>C (p.Glu814Asp)
c.2229G>C (p.Glu743Asp)
 dbSNP gnomAD v3 gnomAD v4
11g.121558681G=CA2004919323SORL1c.2754G= (p.Glu918=)
n.482G=
n.460G=
c.1215G= (p.Glu405=)
c.114G= (p.Glu38=)
c.2442G= (p.Glu814=)
c.2229G= (p.Glu743=)
11g.121558681G>TCA383035858SORL1c.2754G>T (p.Glu918Asp)
n.482G>T
n.460G>T
c.1215G>T (p.Glu405Asp)
c.114G>T (p.Glu38Asp)
c.2442G>T (p.Glu814Asp)
c.2229G>T (p.Glu743Asp)
11g.121558682G>ACA383035860SORL1c.2755G>A (p.Asp919Asn)
n.483G>A
n.461G>A
c.1216G>A (p.Asp406Asn)
c.115G>A (p.Asp39Asn)
c.2443G>A (p.Asp815Asn)
c.2230G>A (p.Asp744Asn)
11g.121558682G>CCA383035862SORL1c.2755G>C (p.Asp919His)
n.483G>C
n.461G>C
c.1216G>C (p.Asp406His)
c.115G>C (p.Asp39His)
c.2443G>C (p.Asp815His)
c.2230G>C (p.Asp744His)
11g.121558682G>TCA383035861SORL1c.2755G>T (p.Asp919Tyr)
n.483G>T
n.461G>T
c.1216G>T (p.Asp406Tyr)
c.115G>T (p.Asp39Tyr)
c.2443G>T (p.Asp815Tyr)
c.2230G>T (p.Asp744Tyr)
11g.121558683A>CCA383035863SORL1c.2756A>C (p.Asp919Ala)
n.484A>C
n.462A>C
c.1217A>C (p.Asp406Ala)
c.116A>C (p.Asp39Ala)
c.2444A>C (p.Asp815Ala)
c.2231A>C (p.Asp744Ala)
11g.121558683A>GCA383035864SORL1c.2756A>G (p.Asp919Gly)
n.484A>G
n.462A>G
c.1217A>G (p.Asp406Gly)
c.116A>G (p.Asp39Gly)
c.2444A>G (p.Asp815Gly)
c.2231A>G (p.Asp744Gly)
11g.121558683A>TCA383035865SORL1c.2756A>T (p.Asp919Val)
n.484A>T
n.462A>T
c.1217A>T (p.Asp406Val)
c.116A>T (p.Asp39Val)
c.2444A>T (p.Asp815Val)
c.2231A>T (p.Asp744Val)
11g.121558684T>ACA383035866SORL1c.2757T>A (p.Asp919Glu)
n.485T>A
n.463T>A
c.1218T>A (p.Asp406Glu)
c.117T>A (p.Asp39Glu)
c.2445T>A (p.Asp815Glu)
c.2232T>A (p.Asp744Glu)
 dbSNP
11g.121558684T>CCA477218921SORL1c.2757T>C (p.Asp919=)
n.485T>C
n.463T>C
c.1218T>C (p.Asp406=)
c.117T>C (p.Asp39=)
c.2445T>C (p.Asp815=)
c.2232T>C (p.Asp744=)
11g.121558684T>GCA383035867SORL1c.2757T>G (p.Asp919Glu)
n.485T>G
n.463T>G
c.1218T>G (p.Asp406Glu)
c.117T>G (p.Asp39Glu)
c.2445T>G (p.Asp815Glu)
c.2232T>G (p.Asp744Glu)
11g.121558684T=CA2004919324SORL1c.2757T= (p.Asp919=)
n.485T=
n.463T=
c.1218T= (p.Asp406=)
c.117T= (p.Asp39=)
c.2445T= (p.Asp815=)
c.2232T= (p.Asp744=)
11g.121558685G>ACA383035868SORL1c.2758G>A (p.Val920Met)
n.486G>A
n.464G>A
c.1219G>A (p.Val407Met)
c.118G>A (p.Val40Met)
c.2446G>A (p.Val816Met)
c.2233G>A (p.Val745Met)
11g.121558685G>CCA383035869SORL1c.2758G>C (p.Val920Leu)
n.486G>C
n.464G>C
c.1219G>C (p.Val407Leu)
c.118G>C (p.Val40Leu)
c.2446G>C (p.Val816Leu)
c.2233G>C (p.Val745Leu)
11g.121558685G>TCA383035870SORL1c.2758G>T (p.Val920Leu)
n.486G>T
n.464G>T
c.1219G>T (p.Val407Leu)
c.118G>T (p.Val40Leu)
c.2446G>T (p.Val816Leu)
c.2233G>T (p.Val745Leu)
11g.121558686T>ACA383035871SORL1c.2759T>A (p.Val920Glu)
n.487T>A
n.465T>A
c.1220T>A (p.Val407Glu)
c.119T>A (p.Val40Glu)
c.2447T>A (p.Val816Glu)
c.2234T>A (p.Val745Glu)
11g.121558686T>CCA383035872SORL1c.2759T>C (p.Val920Ala)
n.487T>C
n.465T>C
c.1220T>C (p.Val407Ala)
c.119T>C (p.Val40Ala)
c.2447T>C (p.Val816Ala)
c.2234T>C (p.Val745Ala)
11g.121558686T>GCA383035873SORL1c.2759T>G (p.Val920Gly)
n.487T>G
n.465T>G
c.1220T>G (p.Val407Gly)
c.119T>G (p.Val40Gly)
c.2447T>G (p.Val816Gly)
c.2234T>G (p.Val745Gly)
11g.121558687G>ACA477218922SORL1c.2760G>A (p.Val920=)
n.488G>A
n.466G>A
c.1221G>A (p.Val407=)
c.120G>A (p.Val40=)
c.2448G>A (p.Val816=)
c.2235G>A (p.Val745=)
 dbSNP gnomAD v3 gnomAD v4
11g.121558687G>CCA477218923SORL1c.2760G>C (p.Val920=)
n.488G>C
n.466G>C
c.1221G>C (p.Val407=)
c.120G>C (p.Val40=)
c.2448G>C (p.Val816=)
c.2235G>C (p.Val745=)
11g.121558687G=CA2004919325SORL1c.2760G= (p.Val920=)
n.488G=
n.466G=
c.1221G= (p.Val407=)
c.120G= (p.Val40=)
c.2448G= (p.Val816=)
c.2235G= (p.Val745=)
11g.121558687G>TCA6329054SORL1c.2760G>T (p.Val920=)
n.488G>T
n.466G>T
c.1221G>T (p.Val407=)
c.120G>T (p.Val40=)
c.2448G>T (p.Val816=)
c.2235G>T (p.Val745=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.121558688A>CCA383035876SORL1c.2761A>C (p.Lys921Gln)
n.489A>C
n.467A>C
c.1222A>C (p.Lys408Gln)
c.121A>C (p.Lys41Gln)
c.2449A>C (p.Lys817Gln)
c.2236A>C (p.Lys746Gln)
11g.121558688A>GCA383035874SORL1c.2761A>G (p.Lys921Glu)
n.489A>G
n.467A>G
c.1222A>G (p.Lys408Glu)
c.121A>G (p.Lys41Glu)
c.2449A>G (p.Lys817Glu)
c.2236A>G (p.Lys746Glu)
11g.121558688A>TCA383035875SORL1c.2761A>T (p.Lys921Ter)
n.489A>T
n.467A>T
c.1222A>T (p.Lys408Ter)
c.121A>T (p.Lys41Ter)
c.2449A>T (p.Lys817Ter)
c.2236A>T (p.Lys746Ter)
 COSMIC
11g.121558689A=CA2004919326SORL1c.2762A= (p.Lys921=)
n.490A=
n.468A=
c.1223A= (p.Lys408=)
c.122A= (p.Lys41=)
c.2450A= (p.Lys817=)
c.2237A= (p.Lys746=)
11g.121558689A>CCA383035877SORL1c.2762A>C (p.Lys921Thr)
n.490A>C
n.468A>C
c.1223A>C (p.Lys408Thr)
c.122A>C (p.Lys41Thr)
c.2450A>C (p.Lys817Thr)
c.2237A>C (p.Lys746Thr)
 dbSNP gnomAD v4
11g.121558689A>GCA383035878SORL1c.2762A>G (p.Lys921Arg)
n.490A>G
n.468A>G
c.1223A>G (p.Lys408Arg)
c.122A>G (p.Lys41Arg)
c.2450A>G (p.Lys817Arg)
c.2237A>G (p.Lys746Arg)
11g.121558689A>TCA383035879SORL1c.2762A>T (p.Lys921Met)
n.490A>T
n.468A>T
c.1223A>T (p.Lys408Met)
c.122A>T (p.Lys41Met)
c.2450A>T (p.Lys817Met)
c.2237A>T (p.Lys746Met)
11g.121558690G>ACA477218924SORL1c.2763G>A (p.Lys921=)
n.491G>A
n.469G>A
c.1224G>A (p.Lys408=)
c.123G>A (p.Lys41=)
c.2451G>A (p.Lys817=)
c.2238G>A (p.Lys746=)
 dbSNP gnomAD v3 gnomAD v4
11g.121558690G>CCA383035880SORL1c.2763G>C (p.Lys921Asn)
n.491G>C
n.469G>C
c.1224G>C (p.Lys408Asn)
c.123G>C (p.Lys41Asn)
c.2451G>C (p.Lys817Asn)
c.2238G>C (p.Lys746Asn)
11g.121558690G>TCA383035881SORL1c.2763G>T (p.Lys921Asn)
n.491G>T
n.469G>T
c.1224G>T (p.Lys408Asn)
c.123G>T (p.Lys41Asn)
c.2451G>T (p.Lys817Asn)
c.2238G>T (p.Lys746Asn)
11g.121558691T>ACA383035882SORL1c.2764T>A (p.Trp922Arg)
n.492T>A
n.470T>A
c.1225T>A (p.Trp409Arg)
c.124T>A (p.Trp42Arg)
c.2452T>A (p.Trp818Arg)
c.2239T>A (p.Trp747Arg)
11g.121558691T>CCA383035883SORL1c.2764T>C (p.Trp922Arg)
n.492T>C
n.470T>C
c.1225T>C (p.Trp409Arg)
c.124T>C (p.Trp42Arg)
c.2452T>C (p.Trp818Arg)
c.2239T>C (p.Trp747Arg)
11g.121558691T>GCA383035884SORL1c.2764T>G (p.Trp922Gly)
n.492T>G
n.470T>G
c.1225T>G (p.Trp409Gly)
c.124T>G (p.Trp42Gly)
c.2452T>G (p.Trp818Gly)
c.2239T>G (p.Trp747Gly)
11g.121558692G>ACA383035885SORL1c.2765G>A (p.Trp922Ter)
n.493G>A
n.471G>A
c.1226G>A (p.Trp409Ter)
c.125G>A (p.Trp42Ter)
c.2453G>A (p.Trp818Ter)
c.2240G>A (p.Trp747Ter)
 gnomAD v4
11g.121558692G>CCA383035886SORL1c.2765G>C (p.Trp922Ser)
n.493G>C
n.471G>C
c.1226G>C (p.Trp409Ser)
c.125G>C (p.Trp42Ser)
c.2453G>C (p.Trp818Ser)
c.2240G>C (p.Trp747Ser)
11g.121558692G>TCA383035887SORL1c.2765G>T (p.Trp922Leu)
n.493G>T
n.471G>T
c.1226G>T (p.Trp409Leu)
c.125G>T (p.Trp42Leu)
c.2453G>T (p.Trp818Leu)
c.2240G>T (p.Trp747Leu)
11g.121558693G>ACA383035890SORL1c.2766G>A (p.Trp922Ter)
n.494G>A
n.472G>A
c.1227G>A (p.Trp409Ter)
c.126G>A (p.Trp42Ter)
c.2454G>A (p.Trp818Ter)
c.2241G>A (p.Trp747Ter)
 COSMIC
11g.121558693G>CCA383035889SORL1c.2766G>C (p.Trp922Cys)
n.494G>C
n.472G>C
c.1227G>C (p.Trp409Cys)
c.126G>C (p.Trp42Cys)
c.2454G>C (p.Trp818Cys)
c.2241G>C (p.Trp747Cys)
 gnomAD v4
11g.121558693G>TCA383035888SORL1c.2766G>T (p.Trp922Cys)
n.494G>T
n.472G>T
c.1227G>T (p.Trp409Cys)
c.126G>T (p.Trp42Cys)
c.2454G>T (p.Trp818Cys)
c.2241G>T (p.Trp747Cys)
11g.121558694C>ACA383035891SORL1c.2767C>A (p.Pro923Thr)
n.495C>A
n.473C>A
c.1228C>A (p.Pro410Thr)
c.127C>A (p.Pro43Thr)
c.2455C>A (p.Pro819Thr)
c.2242C>A (p.Pro748Thr)
11g.121558694C>GCA383035892SORL1c.2767C>G (p.Pro923Ala)
n.495C>G
n.473C>G
c.1228C>G (p.Pro410Ala)
c.127C>G (p.Pro43Ala)
c.2455C>G (p.Pro819Ala)
c.2242C>G (p.Pro748Ala)
 gnomAD v4
11g.121558694C>TCA383035893SORL1c.2767C>T (p.Pro923Ser)
n.495C>T
n.473C>T
c.1228C>T (p.Pro410Ser)
c.127C>T (p.Pro43Ser)
c.2455C>T (p.Pro819Ser)
c.2242C>T (p.Pro748Ser)
11g.121558695C>ACA383035894SORL1c.2768C>A (p.Pro923His)
n.496C>A
n.474C>A
c.1229C>A (p.Pro410His)
c.128C>A (p.Pro43His)
c.2456C>A (p.Pro819His)
c.2243C>A (p.Pro748His)
11g.121558695C>GCA383035895SORL1c.2768C>G (p.Pro923Arg)
n.496C>G
n.474C>G
c.1229C>G (p.Pro410Arg)
c.128C>G (p.Pro43Arg)
c.2456C>G (p.Pro819Arg)
c.2243C>G (p.Pro748Arg)
11g.121558695C>TCA383035896SORL1c.2768C>T (p.Pro923Leu)
n.496C>T
n.474C>T
c.1229C>T (p.Pro410Leu)
c.128C>T (p.Pro43Leu)
c.2456C>T (p.Pro819Leu)
c.2243C>T (p.Pro748Leu)
11g.121558696C>ACA477218927SORL1c.2769C>A (p.Pro923=)
n.497C>A
n.475C>A
c.1230C>A (p.Pro410=)
c.129C>A (p.Pro43=)
c.2457C>A (p.Pro819=)
c.2244C>A (p.Pro748=)
11g.121558696C>GCA477218925SORL1c.2769C>G (p.Pro923=)
n.497C>G
n.475C>G
c.1230C>G (p.Pro410=)
c.129C>G (p.Pro43=)
c.2457C>G (p.Pro819=)
c.2244C>G (p.Pro748=)
11g.121558696C>TCA477218926SORL1c.2769C>T (p.Pro923=)
n.497C>T
n.475C>T
c.1230C>T (p.Pro410=)
c.129C>T (p.Pro43=)
c.2457C>T (p.Pro819=)
c.2244C>T (p.Pro748=)
11g.121558697A=CA2004919327SORL1c.2770A= (p.Asn924=)
n.498A=
n.476A=
c.1231A= (p.Asn411=)
c.130A= (p.Asn44=)
c.2458A= (p.Asn820=)
c.2245A= (p.Asn749=)
11g.121558697A>CCA383035899SORL1c.2770A>C (p.Asn924His)
n.498A>C
n.476A>C
c.1231A>C (p.Asn411His)
c.130A>C (p.Asn44His)
c.2458A>C (p.Asn820His)
c.2245A>C (p.Asn749His)
11g.121558697A>GCA383035897SORL1c.2770A>G (p.Asn924Asp)
n.498A>G
n.476A>G
c.1231A>G (p.Asn411Asp)
c.130A>G (p.Asn44Asp)
c.2458A>G (p.Asn820Asp)
c.2245A>G (p.Asn749Asp)
 dbSNP gnomAD v3 gnomAD v4
11g.121558697A>TCA383035898SORL1c.2770A>T (p.Asn924Tyr)
n.498A>T
n.476A>T
c.1231A>T (p.Asn411Tyr)
c.130A>T (p.Asn44Tyr)
c.2458A>T (p.Asn820Tyr)
c.2245A>T (p.Asn749Tyr)
11g.121558698A=CA2004919328SORL1c.2771A= (p.Asn924=)
n.499A=
n.477A=
c.1232A= (p.Asn411=)
c.131A= (p.Asn44=)
c.2459A= (p.Asn820=)
c.2246A= (p.Asn749=)
11g.121558698A>CCA383035900SORL1c.2771A>C (p.Asn924Thr)
n.499A>C
n.477A>C
c.1232A>C (p.Asn411Thr)
c.131A>C (p.Asn44Thr)
c.2459A>C (p.Asn820Thr)
c.2246A>C (p.Asn749Thr)
11g.121558698A>GCA6329055SORL1c.2771A>G (p.Asn924Ser)
n.499A>G
n.477A>G
c.1232A>G (p.Asn411Ser)
c.131A>G (p.Asn44Ser)
c.2459A>G (p.Asn820Ser)
c.2246A>G (p.Asn749Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121558698A>TCA383035901SORL1c.2771A>T (p.Asn924Ile)
n.499A>T
n.477A>T
c.1232A>T (p.Asn411Ile)
c.131A>T (p.Asn44Ile)
c.2459A>T (p.Asn820Ile)
c.2246A>T (p.Asn749Ile)
11g.121558699T>ACA383035902SORL1c.2772T>A (p.Asn924Lys)
n.500T>A
n.478T>A
c.1233T>A (p.Asn411Lys)
c.132T>A (p.Asn44Lys)
c.2460T>A (p.Asn820Lys)
c.2247T>A (p.Asn749Lys)
11g.121558699T>CCA477218928SORL1c.2772T>C (p.Asn924=)
n.500T>C
n.478T>C
c.1233T>C (p.Asn411=)
c.132T>C (p.Asn44=)
c.2460T>C (p.Asn820=)
c.2247T>C (p.Asn749=)
11g.121558699T>GCA383035903SORL1c.2772T>G (p.Asn924Lys)
n.500T>G
n.478T>G
c.1233T>G (p.Asn411Lys)
c.132T>G (p.Asn44Lys)
c.2460T>G (p.Asn820Lys)
c.2247T>G (p.Asn749Lys)
11g.121558700G>ACA383035904SORL1c.2773G>A (p.Gly925Ser)
n.501G>A
n.479G>A
c.1234G>A (p.Gly412Ser)
c.133G>A (p.Gly45Ser)
c.2461G>A (p.Gly821Ser)
c.2248G>A (p.Gly750Ser)
11g.121558700G>CCA383035906SORL1c.2773G>C (p.Gly925Arg)
n.501G>C
n.479G>C
c.1234G>C (p.Gly412Arg)
c.133G>C (p.Gly45Arg)
c.2461G>C (p.Gly821Arg)
c.2248G>C (p.Gly750Arg)
11g.121558700G>TCA383035905SORL1c.2773G>T (p.Gly925Cys)
n.501G>T
n.479G>T
c.1234G>T (p.Gly412Cys)
c.133G>T (p.Gly45Cys)
c.2461G>T (p.Gly821Cys)
c.2248G>T (p.Gly750Cys)
11g.121558701G>ACA383035907SORL1c.2774G>A (p.Gly925Asp)
n.502G>A
n.480G>A
c.1235G>A (p.Gly412Asp)
c.134G>A (p.Gly45Asp)
c.2462G>A (p.Gly821Asp)
c.2249G>A (p.Gly750Asp)
 COSMIC
11g.121558701G>CCA383035908SORL1c.2774G>C (p.Gly925Ala)
n.502G>C
n.480G>C
c.1235G>C (p.Gly412Ala)
c.134G>C (p.Gly45Ala)
c.2462G>C (p.Gly821Ala)
c.2249G>C (p.Gly750Ala)
11g.121558701G>TCA383035909SORL1c.2774G>T (p.Gly925Val)
n.502G>T
n.480G>T
c.1235G>T (p.Gly412Val)
c.134G>T (p.Gly45Val)
c.2462G>T (p.Gly821Val)
c.2249G>T (p.Gly750Val)
11g.121558702C>ACA477218930SORL1c.2775C>A (p.Gly925=)
n.503C>A
n.481C>A
c.1236C>A (p.Gly412=)
c.135C>A (p.Gly45=)
c.2463C>A (p.Gly821=)
c.2250C>A (p.Gly750=)
11g.121558702C=CA2004919329SORL1c.2775C= (p.Gly925=)
n.503C=
n.481C=
c.1236C= (p.Gly412=)
c.135C= (p.Gly45=)
c.2463C= (p.Gly821=)
c.2250C= (p.Gly750=)
11g.121558702C>GCA477218929SORL1c.2775C>G (p.Gly925=)
n.503C>G
n.481C>G
c.1236C>G (p.Gly412=)
c.135C>G (p.Gly45=)
c.2463C>G (p.Gly821=)
c.2250C>G (p.Gly750=)
11g.121558702C>TCA477218931SORL1c.2775C>T (p.Gly925=)
n.503C>T
n.481C>T
c.1236C>T (p.Gly412=)
c.135C>T (p.Gly45=)
c.2463C>T (p.Gly821=)
c.2250C>T (p.Gly750=)
 dbSNP
11g.121558703A>CCA383035910SORL1c.2776A>C (p.Ile926Leu)
n.504A>C
n.482A>C
c.1237A>C (p.Ile413Leu)
c.136A>C (p.Ile46Leu)
c.2464A>C (p.Ile822Leu)
c.2251A>C (p.Ile751Leu)
11g.121558703A>GCA383035911SORL1c.2776A>G (p.Ile926Val)
n.504A>G
n.482A>G
c.1237A>G (p.Ile413Val)
c.136A>G (p.Ile46Val)
c.2464A>G (p.Ile822Val)
c.2251A>G (p.Ile751Val)
 gnomAD v4
11g.121558703A>TCA383035912SORL1c.2776A>T (p.Ile926Phe)
n.504A>T
n.482A>T
c.1237A>T (p.Ile413Phe)
c.136A>T (p.Ile46Phe)
c.2464A>T (p.Ile822Phe)
c.2251A>T (p.Ile751Phe)
11g.121558704T>ACA383035913SORL1c.2777T>A (p.Ile926Asn)
n.505T>A
n.483T>A
c.1238T>A (p.Ile413Asn)
c.137T>A (p.Ile46Asn)
c.2465T>A (p.Ile822Asn)
c.2252T>A (p.Ile751Asn)
11g.121558704T>CCA383035914SORL1c.2777T>C (p.Ile926Thr)
n.505T>C
n.483T>C
c.1238T>C (p.Ile413Thr)
c.137T>C (p.Ile46Thr)
c.2465T>C (p.Ile822Thr)
c.2252T>C (p.Ile751Thr)
11g.121558704T>GCA383035915SORL1c.2777T>G (p.Ile926Ser)
n.505T>G
n.483T>G
c.1238T>G (p.Ile413Ser)
c.137T>G (p.Ile46Ser)
c.2465T>G (p.Ile822Ser)
c.2252T>G (p.Ile751Ser)
11g.121558705C>ACA477218932SORL1c.2778C>A (p.Ile926=)
n.506C>A
n.484C>A
c.1239C>A (p.Ile413=)
c.138C>A (p.Ile46=)
c.2466C>A (p.Ile822=)
c.2253C>A (p.Ile751=)
11g.121558705C=CA2004919330SORL1c.2778C= (p.Ile926=)
n.506C=
n.484C=
c.1239C= (p.Ile413=)
c.138C= (p.Ile46=)
c.2466C= (p.Ile822=)
c.2253C= (p.Ile751=)
11g.121558705C>GCA383035916SORL1c.2778C>G (p.Ile926Met)
n.506C>G
n.484C>G
c.1239C>G (p.Ile413Met)
c.138C>G (p.Ile46Met)
c.2466C>G (p.Ile822Met)
c.2253C>G (p.Ile751Met)
11g.121558705C>TCA6329056SORL1c.2778C>T (p.Ile926=)
n.506C>T
n.484C>T
c.1239C>T (p.Ile413=)
c.138C>T (p.Ile46=)
c.2466C>T (p.Ile822=)
c.2253C>T (p.Ile751=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.121558706T>ACA383035919SORL1c.2779T>A (p.Ser927Thr)
n.507T>A
n.485T>A
c.1240T>A (p.Ser414Thr)
c.139T>A (p.Ser47Thr)
c.2467T>A (p.Ser823Thr)
c.2254T>A (p.Ser752Thr)
11g.121558706T>CCA383035917SORL1c.2779T>C (p.Ser927Pro)
n.507T>C
n.485T>C
c.1240T>C (p.Ser414Pro)
c.139T>C (p.Ser47Pro)
c.2467T>C (p.Ser823Pro)
c.2254T>C (p.Ser752Pro)
11g.121558706T>GCA383035918SORL1c.2779T>G (p.Ser927Ala)
n.507T>G
n.485T>G
c.1240T>G (p.Ser414Ala)
c.139T>G (p.Ser47Ala)
c.2467T>G (p.Ser823Ala)
c.2254T>G (p.Ser752Ala)
11g.121558707C>ACA383035920SORL1c.2780C>A (p.Ser927Tyr)
n.508C>A
n.486C>A
c.1241C>A (p.Ser414Tyr)
c.140C>A (p.Ser47Tyr)
c.2468C>A (p.Ser823Tyr)
c.2255C>A (p.Ser752Tyr)
11g.121558707C>GCA383035922SORL1c.2780C>G (p.Ser927Cys)
n.508C>G
n.486C>G
c.1241C>G (p.Ser414Cys)
c.140C>G (p.Ser47Cys)
c.2468C>G (p.Ser823Cys)
c.2255C>G (p.Ser752Cys)
11g.121558707C>TCA383035921SORL1c.2780C>T (p.Ser927Phe)
n.508C>T
n.486C>T
c.1241C>T (p.Ser414Phe)
c.140C>T (p.Ser47Phe)
c.2468C>T (p.Ser823Phe)
c.2255C>T (p.Ser752Phe)
11g.121558708T>ACA477218933SORL1c.2781T>A (p.Ser927=)
n.509T>A
n.487T>A
c.1242T>A (p.Ser414=)
c.141T>A (p.Ser47=)
c.2469T>A (p.Ser823=)
c.2256T>A (p.Ser752=)
11g.121558708T>CCA477218935SORL1c.2781T>C (p.Ser927=)
n.509T>C
n.487T>C
c.1242T>C (p.Ser414=)
c.141T>C (p.Ser47=)
c.2469T>C (p.Ser823=)
c.2256T>C (p.Ser752=)
11g.121558708T>GCA477218934SORL1c.2781T>G (p.Ser927=)
n.509T>G
n.487T>G
c.1242T>G (p.Ser414=)
c.141T>G (p.Ser47=)
c.2469T>G (p.Ser823=)
c.2256T>G (p.Ser752=)
11g.121558709G>ACA383035923SORL1c.2782G>A (p.Val928Met)
n.510G>A
n.488G>A
c.1243G>A (p.Val415Met)
c.142G>A (p.Val48Met)
c.2470G>A (p.Val824Met)
c.2257G>A (p.Val753Met)
 dbSNP gnomAD v4
11g.121558709G>CCA383035924SORL1c.2782G>C (p.Val928Leu)
n.510G>C
n.488G>C
c.1243G>C (p.Val415Leu)
c.142G>C (p.Val48Leu)
c.2470G>C (p.Val824Leu)
c.2257G>C (p.Val753Leu)
11g.121558709G=CA2004919331SORL1c.2782G= (p.Val928=)
n.510G=
n.488G=
c.1243G= (p.Val415=)
c.142G= (p.Val48=)
c.2470G= (p.Val824=)
c.2257G= (p.Val753=)
11g.121558709G>TCA383035925SORL1c.2782G>T (p.Val928Leu)
n.510G>T
n.488G>T
c.1243G>T (p.Val415Leu)
c.142G>T (p.Val48Leu)
c.2470G>T (p.Val824Leu)
c.2257G>T (p.Val753Leu)
11g.121558710T>ACA383035926SORL1c.2783T>A (p.Val928Glu)
n.511T>A
n.489T>A
c.1244T>A (p.Val415Glu)
c.143T>A (p.Val48Glu)
c.2471T>A (p.Val824Glu)
c.2258T>A (p.Val753Glu)
11g.121558710T>CCA383035927SORL1c.2783T>C (p.Val928Ala)
n.511T>C
n.489T>C
c.1244T>C (p.Val415Ala)
c.143T>C (p.Val48Ala)
c.2471T>C (p.Val824Ala)
c.2258T>C (p.Val753Ala)
11g.121558710T>GCA383035928SORL1c.2783T>G (p.Val928Gly)
n.511T>G
n.489T>G
c.1244T>G (p.Val415Gly)
c.143T>G (p.Val48Gly)
c.2471T>G (p.Val824Gly)
c.2258T>G (p.Val753Gly)
11g.121558711G>ACA477218936SORL1c.2784G>A (p.Val928=)
n.512G>A
n.490G>A
c.1245G>A (p.Val415=)
c.144G>A (p.Val48=)
c.2472G>A (p.Val824=)
c.2259G>A (p.Val753=)
 dbSNP
11g.121558711G>CCA477218937SORL1c.2784G>C (p.Val928=)
n.512G>C
n.490G>C
c.1245G>C (p.Val415=)
c.144G>C (p.Val48=)
c.2472G>C (p.Val824=)
c.2259G>C (p.Val753=)
11g.121558711G=CA2004919332SORL1c.2784G= (p.Val928=)
n.512G=
n.490G=
c.1245G= (p.Val415=)
c.144G= (p.Val48=)
c.2472G= (p.Val824=)
c.2259G= (p.Val753=)
11g.121558711G>TCA477218938SORL1c.2784G>T (p.Val928=)
n.512G>T
n.490G>T
c.1245G>T (p.Val415=)
c.144G>T (p.Val48=)
c.2472G>T (p.Val824=)
c.2259G>T (p.Val753=)
11g.121558712G>ACA383035929SORL1c.2785G>A (p.Asp929Asn)
n.513G>A
n.491G>A
c.1246G>A (p.Asp416Asn)
c.145G>A (p.Asp49Asn)
c.2473G>A (p.Asp825Asn)
c.2260G>A (p.Asp754Asn)
11g.121558712G>CCA383035930SORL1c.2785G>C (p.Asp929His)
n.513G>C
n.491G>C
c.1246G>C (p.Asp416His)
c.145G>C (p.Asp49His)
c.2473G>C (p.Asp825His)
c.2260G>C (p.Asp754His)
11g.121558712G=CA2004919333SORL1c.2785G= (p.Asp929=)
n.513G=
n.491G=
c.1246G= (p.Asp416=)
c.145G= (p.Asp49=)
c.2473G= (p.Asp825=)
c.2260G= (p.Asp754=)
11g.121558712G>TCA6329057SORL1c.2785G>T (p.Asp929Tyr)
n.513G>T
n.491G>T
c.1246G>T (p.Asp416Tyr)
c.145G>T (p.Asp49Tyr)
c.2473G>T (p.Asp825Tyr)
c.2260G>T (p.Asp754Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121558713A>CCA383035931SORL1c.2786A>C (p.Asp929Ala)
n.514A>C
n.492A>C
c.1247A>C (p.Asp416Ala)
c.146A>C (p.Asp49Ala)
c.2474A>C (p.Asp825Ala)
c.2261A>C (p.Asp754Ala)
11g.121558713A>GCA383035932SORL1c.2786A>G (p.Asp929Gly)
n.514A>G
n.492A>G
c.1247A>G (p.Asp416Gly)
c.146A>G (p.Asp49Gly)
c.2474A>G (p.Asp825Gly)
c.2261A>G (p.Asp754Gly)
 gnomAD v4
11g.121558713A>TCA383035933SORL1c.2786A>T (p.Asp929Val)
n.514A>T
n.492A>T
c.1247A>T (p.Asp416Val)
c.146A>T (p.Asp49Val)
c.2474A>T (p.Asp825Val)
c.2261A>T (p.Asp754Val)
11g.121558714C>ACA383035935SORL1c.2787C>A (p.Asp929Glu)
n.515C>A
n.493C>A
c.1248C>A (p.Asp416Glu)
c.147C>A (p.Asp49Glu)
c.2475C>A (p.Asp825Glu)
c.2262C>A (p.Asp754Glu)
11g.121558714C=CA2004919334SORL1c.2787C= (p.Asp929=)
n.515C=
n.493C=
c.1248C= (p.Asp416=)
c.147C= (p.Asp49=)
c.2475C= (p.Asp825=)
c.2262C= (p.Asp754=)
11g.121558714C>GCA383035934SORL1c.2787C>G (p.Asp929Glu)
n.515C>G
n.493C>G
c.1248C>G (p.Asp416Glu)
c.147C>G (p.Asp49Glu)
c.2475C>G (p.Asp825Glu)
c.2262C>G (p.Asp754Glu)
11g.121558714C>TCA6329058SORL1c.2787C>T (p.Asp929=)
n.515C>T
n.493C>T
c.1248C>T (p.Asp416=)
c.147C>T (p.Asp49=)
c.2475C>T (p.Asp825=)
c.2262C>T (p.Asp754=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121558715G>ACA6329059SORL1c.2788G>A (p.Asp930Asn)
n.516G>A
n.494G>A
c.1249G>A (p.Asp417Asn)
c.148G>A (p.Asp50Asn)
c.2476G>A (p.Asp826Asn)
c.2263G>A (p.Asp755Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
11g.121558715G>CCA383035936SORL1c.2788G>C (p.Asp930His)
n.516G>C
n.494G>C
c.1249G>C (p.Asp417His)
c.148G>C (p.Asp50His)
c.2476G>C (p.Asp826His)
c.2263G>C (p.Asp755His)
11g.121558715G=CA2004919335SORL1c.2788G= (p.Asp930=)
n.516G=
n.494G=
c.1249G= (p.Asp417=)
c.148G= (p.Asp50=)
c.2476G= (p.Asp826=)
c.2263G= (p.Asp755=)
11g.121558715G>TCA383035937SORL1c.2788G>T (p.Asp930Tyr)
n.516G>T
n.494G>T
c.1249G>T (p.Asp417Tyr)
c.148G>T (p.Asp50Tyr)
c.2476G>T (p.Asp826Tyr)
c.2263G>T (p.Asp755Tyr)
11g.121558716A>CCA383035938SORL1c.2789A>C (p.Asp930Ala)
n.517A>C
n.495A>C
c.1250A>C (p.Asp417Ala)
c.149A>C (p.Asp50Ala)
c.2477A>C (p.Asp826Ala)
c.2264A>C (p.Asp755Ala)
 gnomAD v4
11g.121558716A>GCA383035939SORL1c.2789A>G (p.Asp930Gly)
n.517A>G
n.495A>G
c.1250A>G (p.Asp417Gly)
c.149A>G (p.Asp50Gly)
c.2477A>G (p.Asp826Gly)
c.2264A>G (p.Asp755Gly)
11g.121558716A>TCA383035940SORL1c.2789A>T (p.Asp930Val)
n.517A>T
n.495A>T
c.1250A>T (p.Asp417Val)
c.149A>T (p.Asp50Val)
c.2477A>T (p.Asp826Val)
c.2264A>T (p.Asp755Val)
11g.121558717C>ACA383035941SORL1c.2790C>A (p.Asp930Glu)
n.518C>A
n.496C>A
c.1251C>A (p.Asp417Glu)
c.150C>A (p.Asp50Glu)
c.2478C>A (p.Asp826Glu)
c.2265C>A (p.Asp755Glu)
11g.121558717C>GCA383035942SORL1c.2790C>G (p.Asp930Glu)
n.518C>G
n.496C>G
c.1251C>G (p.Asp417Glu)
c.150C>G (p.Asp50Glu)
c.2478C>G (p.Asp826Glu)
c.2265C>G (p.Asp755Glu)
11g.121558717C>TCA477218939SORL1c.2790C>T (p.Asp930=)
n.518C>T
n.496C>T
c.1251C>T (p.Asp417=)
c.150C>T (p.Asp50=)
c.2478C>T (p.Asp826=)
c.2265C>T (p.Asp755=)
11g.121558718C>ACA383035943SORL1c.2791C>A (p.Gln931Lys)
n.519C>A
n.497C>A
c.1252C>A (p.Gln418Lys)
c.151C>A (p.Gln51Lys)
c.2479C>A (p.Gln827Lys)
c.2266C>A (p.Gln756Lys)
11g.121558718C>GCA383035944SORL1c.2791C>G (p.Gln931Glu)
n.519C>G
n.497C>G
c.1252C>G (p.Gln418Glu)
c.151C>G (p.Gln51Glu)
c.2479C>G (p.Gln827Glu)
c.2266C>G (p.Gln756Glu)
11g.121558718C>TCA383035945SORL1c.2791C>T (p.Gln931Ter)
n.519C>T
n.497C>T
c.1252C>T (p.Gln418Ter)
c.151C>T (p.Gln51Ter)
c.2479C>T (p.Gln827Ter)
c.2266C>T (p.Gln756Ter)
11g.121558719A=CA2004919336SORL1c.2792A= (p.Gln931=)
n.520A=
n.498A=
c.1253A= (p.Gln418=)
c.152A= (p.Gln51=)
c.2480A= (p.Gln827=)
c.2267A= (p.Gln756=)
11g.121558719A>CCA383035947SORL1c.2792A>C (p.Gln931Pro)
n.520A>C
n.498A>C
c.1253A>C (p.Gln418Pro)
c.152A>C (p.Gln51Pro)
c.2480A>C (p.Gln827Pro)
c.2267A>C (p.Gln756Pro)
11g.121558719A>GCA229902868SORL1c.2792A>G (p.Gln931Arg)
n.520A>G
n.498A>G
c.1253A>G (p.Gln418Arg)
c.152A>G (p.Gln51Arg)
c.2480A>G (p.Gln827Arg)
c.2267A>G (p.Gln756Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121558719A>TCA383035946SORL1c.2792A>T (p.Gln931Leu)
n.520A>T
n.498A>T
c.1253A>T (p.Gln418Leu)
c.152A>T (p.Gln51Leu)
c.2480A>T (p.Gln827Leu)
c.2267A>T (p.Gln756Leu)
11g.121558720G>ACA477218940SORL1c.2793G>A (p.Gln931=)
n.521G>A
n.499G>A
c.1254G>A (p.Gln418=)
c.153G>A (p.Gln51=)
c.2481G>A (p.Gln827=)
c.2268G>A (p.Gln756=)
11g.121558720G>CCA383035949SORL1c.2793G>C (p.Gln931His)
n.521G>C
n.499G>C
c.1254G>C (p.Gln418His)
c.153G>C (p.Gln51His)
c.2481G>C (p.Gln827His)
c.2268G>C (p.Gln756His)
11g.121558720G>TCA383035948SORL1c.2793G>T (p.Gln931His)
n.521G>T
n.499G>T
c.1254G>T (p.Gln418His)
c.153G>T (p.Gln51His)
c.2481G>T (p.Gln827His)
c.2268G>T (p.Gln756His)
 gnomAD v4
11g.121558721T>ACA383035950SORL1c.2794T>A (p.Trp932Arg)
n.522T>A
n.500T>A
c.1255T>A (p.Trp419Arg)
c.154T>A (p.Trp52Arg)
c.2482T>A (p.Trp828Arg)
c.2269T>A (p.Trp757Arg)
11g.121558721T>CCA383035951SORL1c.2794T>C (p.Trp932Arg)
n.522T>C
n.500T>C
c.1255T>C (p.Trp419Arg)
c.154T>C (p.Trp52Arg)
c.2482T>C (p.Trp828Arg)
c.2269T>C (p.Trp757Arg)
 dbSNP
11g.121558721T>GCA383035952SORL1c.2794T>G (p.Trp932Gly)
n.522T>G
n.500T>G
c.1255T>G (p.Trp419Gly)
c.154T>G (p.Trp52Gly)
c.2482T>G (p.Trp828Gly)
c.2269T>G (p.Trp757Gly)
11g.121558721T=CA2004919337SORL1c.2794T= (p.Trp932=)
n.522T=
n.500T=
c.1255T= (p.Trp419=)
c.154T= (p.Trp52=)
c.2482T= (p.Trp828=)
c.2269T= (p.Trp757=)
11g.121558722G>ACA383035953SORL1c.2795G>A (p.Trp932Ter)
n.523G>A
n.501G>A
c.1256G>A (p.Trp419Ter)
c.155G>A (p.Trp52Ter)
c.2483G>A (p.Trp828Ter)
c.2270G>A (p.Trp757Ter)
 COSMIC
11g.121558722G>CCA383035954SORL1c.2795G>C (p.Trp932Ser)
n.523G>C
n.501G>C
c.1256G>C (p.Trp419Ser)
c.155G>C (p.Trp52Ser)
c.2483G>C (p.Trp828Ser)
c.2270G>C (p.Trp757Ser)
11g.121558722G>TCA383035955SORL1c.2795G>T (p.Trp932Leu)
n.523G>T
n.501G>T
c.1256G>T (p.Trp419Leu)
c.155G>T (p.Trp52Leu)
c.2483G>T (p.Trp828Leu)
c.2270G>T (p.Trp757Leu)
11g.121558723G>ACA383035956SORL1c.2796G>A (p.Trp932Ter)
n.524G>A
n.502G>A
c.1257G>A (p.Trp419Ter)
c.156G>A (p.Trp52Ter)
c.2484G>A (p.Trp828Ter)
c.2271G>A (p.Trp757Ter)
 COSMIC
11g.121558723G>CCA383035957SORL1c.2796G>C (p.Trp932Cys)
n.524G>C
n.502G>C
c.1257G>C (p.Trp419Cys)
c.156G>C (p.Trp52Cys)
c.2484G>C (p.Trp828Cys)
c.2271G>C (p.Trp757Cys)
11g.121558723G=CA2004919338SORL1c.2796G= (p.Trp932=)
n.524G=
n.502G=
c.1257G= (p.Trp419=)
c.156G= (p.Trp52=)
c.2484G= (p.Trp828=)
c.2271G= (p.Trp757=)
11g.121558723G>TCA6329060SORL1c.2796G>T (p.Trp932Cys)
n.524G>T
n.502G>T
c.1257G>T (p.Trp419Cys)
c.156G>T (p.Trp52Cys)
c.2484G>T (p.Trp828Cys)
c.2271G>T (p.Trp757Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121558724A>CCA383035958SORL1c.2797A>C (p.Ile933Leu)
n.525A>C
n.503A>C
c.1258A>C (p.Ile420Leu)
c.157A>C (p.Ile53Leu)
c.2485A>C (p.Ile829Leu)
c.2272A>C (p.Ile758Leu)
11g.121558724A>GCA383035959SORL1c.2797A>G (p.Ile933Val)
n.525A>G
n.503A>G
c.1258A>G (p.Ile420Val)
c.157A>G (p.Ile53Val)
c.2485A>G (p.Ile829Val)
c.2272A>G (p.Ile758Val)
 gnomAD v4
11g.121558724A>TCA383035960SORL1c.2797A>T (p.Ile933Phe)
n.525A>T
n.503A>T
c.1258A>T (p.Ile420Phe)
c.157A>T (p.Ile53Phe)
c.2485A>T (p.Ile829Phe)
c.2272A>T (p.Ile758Phe)
11g.121558725T>ACA383035963SORL1c.2798T>A (p.Ile933Asn)
n.526T>A
n.504T>A
c.1259T>A (p.Ile420Asn)
c.158T>A (p.Ile53Asn)
c.2486T>A (p.Ile829Asn)
c.2273T>A (p.Ile758Asn)
11g.121558725T>CCA383035961SORL1c.2798T>C (p.Ile933Thr)
n.526T>C
n.504T>C
c.1259T>C (p.Ile420Thr)
c.158T>C (p.Ile53Thr)
c.2486T>C (p.Ile829Thr)
c.2273T>C (p.Ile758Thr)
 dbSNP gnomAD v2 gnomAD v4
11g.121558725T>GCA383035962SORL1c.2798T>G (p.Ile933Ser)
n.526T>G
n.504T>G
c.1259T>G (p.Ile420Ser)
c.158T>G (p.Ile53Ser)
c.2486T>G (p.Ile829Ser)
c.2273T>G (p.Ile758Ser)
11g.121558725T=CA2004919339SORL1c.2798T= (p.Ile933=)
n.526T=
n.504T=
c.1259T= (p.Ile420=)
c.158T= (p.Ile53=)
c.2486T= (p.Ile829=)
c.2273T= (p.Ile758=)
11g.121558726T>ACA477218941SORL1c.2799T>A (p.Ile933=)
n.527T>A
n.505T>A
c.1260T>A (p.Ile420=)
c.159T>A (p.Ile53=)
c.2487T>A (p.Ile829=)
c.2274T>A (p.Ile758=)
11g.121558726T>CCA477218942SORL1c.2799T>C (p.Ile933=)
n.527T>C
n.505T>C
c.1260T>C (p.Ile420=)
c.159T>C (p.Ile53=)
c.2487T>C (p.Ile829=)
c.2274T>C (p.Ile758=)
11g.121558726T>GCA383035964SORL1c.2799T>G (p.Ile933Met)
n.527T>G
n.505T>G
c.1260T>G (p.Ile420Met)
c.159T>G (p.Ile53Met)
c.2487T>G (p.Ile829Met)
c.2274T>G (p.Ile758Met)
11g.121558727T>ACA383035965SORL1c.2800T>A (p.Tyr934Asn)
n.528T>A
n.506T>A
c.1261T>A (p.Tyr421Asn)
c.160T>A (p.Tyr54Asn)
c.2488T>A (p.Tyr830Asn)
c.2275T>A (p.Tyr759Asn)
11g.121558727T>CCA383035966SORL1c.2800T>C (p.Tyr934His)
n.528T>C
n.506T>C
c.1261T>C (p.Tyr421His)
c.160T>C (p.Tyr54His)
c.2488T>C (p.Tyr830His)
c.2275T>C (p.Tyr759His)
11g.121558727T>GCA383035967SORL1c.2800T>G (p.Tyr934Asp)
n.528T>G
n.506T>G
c.1261T>G (p.Tyr421Asp)
c.160T>G (p.Tyr54Asp)
c.2488T>G (p.Tyr830Asp)
c.2275T>G (p.Tyr759Asp)
 COSMIC
11g.121558728A=CA2004919340SORL1c.2801A= (p.Tyr934=)
n.529A=
n.507A=
c.1262A= (p.Tyr421=)
c.161A= (p.Tyr54=)
c.2489A= (p.Tyr830=)
c.2276A= (p.Tyr759=)
11g.121558728A>CCA383035968SORL1c.2801A>C (p.Tyr934Ser)
n.529A>C
n.507A>C
c.1262A>C (p.Tyr421Ser)
c.161A>C (p.Tyr54Ser)
c.2489A>C (p.Tyr830Ser)
c.2276A>C (p.Tyr759Ser)
11g.121558728A>GCA383035969SORL1c.2801A>G (p.Tyr934Cys)
n.529A>G
n.507A>G
c.1262A>G (p.Tyr421Cys)
c.161A>G (p.Tyr54Cys)
c.2489A>G (p.Tyr830Cys)
c.2276A>G (p.Tyr759Cys)
 dbSNP gnomAD v2
11g.121558728A>TCA383035970SORL1c.2801A>T (p.Tyr934Phe)
n.529A>T
n.507A>T
c.1262A>T (p.Tyr421Phe)
c.161A>T (p.Tyr54Phe)
c.2489A>T (p.Tyr830Phe)
c.2276A>T (p.Tyr759Phe)
 dbSNP gnomAD v2 gnomAD v4
11g.121558729C>ACA383035971SORL1c.2802C>A (p.Tyr934Ter)
n.530C>A
n.508C>A
c.1263C>A (p.Tyr421Ter)
c.162C>A (p.Tyr54Ter)
c.2490C>A (p.Tyr830Ter)
c.2277C>A (p.Tyr759Ter)
11g.121558729C=CA2004919341SORL1c.2802C= (p.Tyr934=)
n.530C=
n.508C=
c.1263C= (p.Tyr421=)
c.162C= (p.Tyr54=)
c.2490C= (p.Tyr830=)
c.2277C= (p.Tyr759=)
11g.121558729C>GCA383035972SORL1c.2802C>G (p.Tyr934Ter)
n.530C>G
n.508C>G
c.1263C>G (p.Tyr421Ter)
c.162C>G (p.Tyr54Ter)
c.2490C>G (p.Tyr830Ter)
c.2277C>G (p.Tyr759Ter)
 gnomAD v4
11g.121558729C>TCA6329061SORL1c.2802C>T (p.Tyr934=)
n.530C>T
n.508C>T
c.1263C>T (p.Tyr421=)
c.162C>T (p.Tyr54=)
c.2490C>T (p.Tyr830=)
c.2277C>T (p.Tyr759=)
 dbSNP ExAC gnomAD v2
11g.121558730T>ACA383035973SORL1c.2803T>A (p.Trp935Arg)
n.531T>A
n.509T>A
c.1264T>A (p.Trp422Arg)
c.163T>A (p.Trp55Arg)
c.2491T>A (p.Trp831Arg)
c.2278T>A (p.Trp760Arg)
11g.121558730T>CCA383035974SORL1c.2803T>C (p.Trp935Arg)
n.531T>C
n.509T>C
c.1264T>C (p.Trp422Arg)
c.163T>C (p.Trp55Arg)
c.2491T>C (p.Trp831Arg)
c.2278T>C (p.Trp760Arg)
 dbSNP
11g.121558730T>GCA383035975SORL1c.2803T>G (p.Trp935Gly)
n.531T>G
n.509T>G
c.1264T>G (p.Trp422Gly)
c.163T>G (p.Trp55Gly)
c.2491T>G (p.Trp831Gly)
c.2278T>G (p.Trp760Gly)
 dbSNP
11g.121558730T=CA2004919342SORL1c.2803T= (p.Trp935=)
n.531T=
n.509T=
c.1264T= (p.Trp422=)
c.163T= (p.Trp55=)
c.2491T= (p.Trp831=)
c.2278T= (p.Trp760=)
11g.121558731G>ACA383035978SORL1c.2804G>A (p.Trp935Ter)
n.532G>A
n.510G>A
c.1265G>A (p.Trp422Ter)
c.164G>A (p.Trp55Ter)
c.2492G>A (p.Trp831Ter)
c.2279G>A (p.Trp760Ter)
 COSMIC
11g.121558731G>CCA383035977SORL1c.2804G>C (p.Trp935Ser)
n.532G>C
n.510G>C
c.1265G>C (p.Trp422Ser)
c.164G>C (p.Trp55Ser)
c.2492G>C (p.Trp831Ser)
c.2279G>C (p.Trp760Ser)
11g.121558731G>TCA383035976SORL1c.2804G>T (p.Trp935Leu)
n.532G>T
n.510G>T
c.1265G>T (p.Trp422Leu)
c.164G>T (p.Trp55Leu)
c.2492G>T (p.Trp831Leu)
c.2279G>T (p.Trp760Leu)
11g.121558732G>ACA383035979SORL1c.2805G>A (p.Trp935Ter)
n.533G>A
n.511G>A
c.1266G>A (p.Trp422Ter)
c.165G>A (p.Trp55Ter)
c.2493G>A (p.Trp831Ter)
c.2280G>A (p.Trp760Ter)
11g.121558732G>CCA383035981SORL1c.2805G>C (p.Trp935Cys)
n.533G>C
n.511G>C
c.1266G>C (p.Trp422Cys)
c.165G>C (p.Trp55Cys)
c.2493G>C (p.Trp831Cys)
c.2280G>C (p.Trp760Cys)
11g.121558732G>TCA383035980SORL1c.2805G>T (p.Trp935Cys)
n.533G>T
n.511G>T
c.1266G>T (p.Trp422Cys)
c.165G>T (p.Trp55Cys)
c.2493G>T (p.Trp831Cys)
c.2280G>T (p.Trp760Cys)
11g.121558733A>CCA383035982SORL1c.2806A>C (p.Thr936Pro)
n.534A>C
n.512A>C
c.1267A>C (p.Thr423Pro)
c.166A>C (p.Thr56Pro)
c.2494A>C (p.Thr832Pro)
c.2281A>C (p.Thr761Pro)
11g.121558733A>GCA383035983SORL1c.2806A>G (p.Thr936Ala)
n.534A>G
n.512A>G
c.1267A>G (p.Thr423Ala)
c.166A>G (p.Thr56Ala)
c.2494A>G (p.Thr832Ala)
c.2281A>G (p.Thr761Ala)
11g.121558733A>TCA383035984SORL1c.2806A>T (p.Thr936Ser)
n.534A>T
n.512A>T
c.1267A>T (p.Thr423Ser)
c.166A>T (p.Thr56Ser)
c.2494A>T (p.Thr832Ser)
c.2281A>T (p.Thr761Ser)
11g.121558734C>ACA383035985SORL1c.2807C>A (p.Thr936Lys)
n.535C>A
n.513C>A
c.1268C>A (p.Thr423Lys)
c.167C>A (p.Thr56Lys)
c.2495C>A (p.Thr832Lys)
c.2282C>A (p.Thr761Lys)
11g.121558734C=CA2004919343SORL1c.2807C= (p.Thr936=)
n.535C=
n.513C=
c.1268C= (p.Thr423=)
c.167C= (p.Thr56=)
c.2495C= (p.Thr832=)
c.2282C= (p.Thr761=)
11g.121558734C>GCA383035986SORL1c.2807C>G (p.Thr936Arg)
n.535C>G
n.513C>G
c.1268C>G (p.Thr423Arg)
c.167C>G (p.Thr56Arg)
c.2495C>G (p.Thr832Arg)
c.2282C>G (p.Thr761Arg)
11g.121558734C>TCA6329062SORL1c.2807C>T (p.Thr936Met)
n.535C>T
n.513C>T
c.1268C>T (p.Thr423Met)
c.167C>T (p.Thr56Met)
c.2495C>T (p.Thr832Met)
c.2282C>T (p.Thr761Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.121558735G>ACA6329063SORL1c.2808G>A (p.Thr936=)
n.536G>A
n.514G>A
c.1269G>A (p.Thr423=)
c.168G>A (p.Thr56=)
c.2496G>A (p.Thr832=)
c.2283G>A (p.Thr761=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121558735G>CCA477218943SORL1c.2808G>C (p.Thr936=)
n.536G>C
n.514G>C
c.1269G>C (p.Thr423=)
c.168G>C (p.Thr56=)
c.2496G>C (p.Thr832=)
c.2283G>C (p.Thr761=)
 gnomAD v4
11g.121558735G=CA2004919344SORL1c.2808G= (p.Thr936=)
n.536G=
n.514G=
c.1269G= (p.Thr423=)
c.168G= (p.Thr56=)
c.2496G= (p.Thr832=)
c.2283G= (p.Thr761=)
11g.121558735G>TCA477218944SORL1c.2808G>T (p.Thr936=)
n.536G>T
n.514G>T
c.1269G>T (p.Thr423=)
c.168G>T (p.Thr56=)
c.2496G>T (p.Thr832=)
c.2283G>T (p.Thr761=)
11g.121558736G>ACA383035987SORL1c.2809G>A (p.Asp937Asn)
n.537G>A
n.515G>A
c.1270G>A (p.Asp424Asn)
c.169G>A (p.Asp57Asn)
c.2497G>A (p.Asp833Asn)
c.2284G>A (p.Asp762Asn)
 dbSNP gnomAD v4
11g.121558736G>CCA383035988SORL1c.2809G>C (p.Asp937His)
n.537G>C
n.515G>C
c.1270G>C (p.Asp424His)
c.169G>C (p.Asp57His)
c.2497G>C (p.Asp833His)
c.2284G>C (p.Asp762His)
11g.121558736G=CA2004919345SORL1c.2809G= (p.Asp937=)
n.537G=
n.515G=
c.1270G= (p.Asp424=)
c.169G= (p.Asp57=)
c.2497G= (p.Asp833=)
c.2284G= (p.Asp762=)
11g.121558736G>TCA383035989SORL1c.2809G>T (p.Asp937Tyr)
n.537G>T
n.515G>T
c.1270G>T (p.Asp424Tyr)
c.169G>T (p.Asp57Tyr)
c.2497G>T (p.Asp833Tyr)
c.2284G>T (p.Asp762Tyr)
11g.121558737A>CCA383035990SORL1c.2810A>C (p.Asp937Ala)
n.538A>C
n.516A>C
c.1271A>C (p.Asp424Ala)
c.170A>C (p.Asp57Ala)
c.2498A>C (p.Asp833Ala)
c.2285A>C (p.Asp762Ala)
11g.121558737A>GCA383035991SORL1c.2810A>G (p.Asp937Gly)
n.538A>G
n.516A>G
c.1271A>G (p.Asp424Gly)
c.170A>G (p.Asp57Gly)
c.2498A>G (p.Asp833Gly)
c.2285A>G (p.Asp762Gly)
11g.121558737A>TCA383035992SORL1c.2810A>T (p.Asp937Val)
n.538A>T
n.516A>T
c.1271A>T (p.Asp424Val)
c.170A>T (p.Asp57Val)
c.2498A>T (p.Asp833Val)
c.2285A>T (p.Asp762Val)
11g.121558738T>ACA383035993SORL1c.2811T>A (p.Asp937Glu)
n.539T>A
n.517T>A
c.1272T>A (p.Asp424Glu)
c.171T>A (p.Asp57Glu)
c.2499T>A (p.Asp833Glu)
c.2286T>A (p.Asp762Glu)
11g.121558738T>CCA477218945SORL1c.2811T>C (p.Asp937=)
n.539T>C
n.517T>C
c.1272T>C (p.Asp424=)
c.171T>C (p.Asp57=)
c.2499T>C (p.Asp833=)
c.2286T>C (p.Asp762=)
 dbSNP COSMIC
11g.121558738T>GCA383035994SORL1c.2811T>G (p.Asp937Glu)
n.539T>G
n.517T>G
c.1272T>G (p.Asp424Glu)
c.171T>G (p.Asp57Glu)
c.2499T>G (p.Asp833Glu)
c.2286T>G (p.Asp762Glu)
11g.121558738T=CA2004919346SORL1c.2811T= (p.Asp937=)
n.539T=
n.517T=
c.1272T= (p.Asp424=)
c.171T= (p.Asp57=)
c.2499T= (p.Asp833=)
c.2286T= (p.Asp762=)
11g.121558739G>ACA383035995SORL1c.2812G>A (p.Ala938Thr)
n.540G>A
n.518G>A
c.1273G>A (p.Ala425Thr)
c.172G>A (p.Ala58Thr)
c.2500G>A (p.Ala834Thr)
c.2287G>A (p.Ala763Thr)
 dbSNP
11g.121558739G>CCA383035996SORL1c.2812G>C (p.Ala938Pro)
n.540G>C
n.518G>C
c.1273G>C (p.Ala425Pro)
c.172G>C (p.Ala58Pro)
c.2500G>C (p.Ala834Pro)
c.2287G>C (p.Ala763Pro)
11g.121558739G=CA2004919347SORL1c.2812G= (p.Ala938=)
n.540G=
n.518G=
c.1273G= (p.Ala425=)
c.172G= (p.Ala58=)
c.2500G= (p.Ala834=)
c.2287G= (p.Ala763=)
11g.121558739G>TCA383035997SORL1c.2812G>T (p.Ala938Ser)
n.540G>T
n.518G>T
c.1273G>T (p.Ala425Ser)
c.172G>T (p.Ala58Ser)
c.2500G>T (p.Ala834Ser)
c.2287G>T (p.Ala763Ser)
11g.121558740C>ACA383035998SORL1c.2813C>A (p.Ala938Asp)
n.541C>A
n.519C>A
c.1274C>A (p.Ala425Asp)
c.173C>A (p.Ala58Asp)
c.2501C>A (p.Ala834Asp)
c.2288C>A (p.Ala763Asp)
11g.121558740C=CA2004919348SORL1c.2813C= (p.Ala938=)
n.541C=
n.519C=
c.1274C= (p.Ala425=)
c.173C= (p.Ala58=)
c.2501C= (p.Ala834=)
c.2288C= (p.Ala763=)
11g.121558740C>GCA383035999SORL1c.2813C>G (p.Ala938Gly)
n.541C>G
n.519C>G
c.1274C>G (p.Ala425Gly)
c.173C>G (p.Ala58Gly)
c.2501C>G (p.Ala834Gly)
c.2288C>G (p.Ala763Gly)
11g.121558740C>TCA383036000SORL1c.2813C>T (p.Ala938Val)
n.541C>T
n.519C>T
c.1274C>T (p.Ala425Val)
c.173C>T (p.Ala58Val)
c.2501C>T (p.Ala834Val)
c.2288C>T (p.Ala763Val)
 dbSNP
11g.121558741C>ACA477218946SORL1c.2814C>A (p.Ala938=)
n.542C>A
n.520C>A
c.1275C>A (p.Ala425=)
c.174C>A (p.Ala58=)
c.2502C>A (p.Ala834=)
c.2289C>A (p.Ala763=)
11g.121558741C>GCA477218947SORL1c.2814C>G (p.Ala938=)
n.542C>G
n.520C>G
c.1275C>G (p.Ala425=)
c.174C>G (p.Ala58=)
c.2502C>G (p.Ala834=)
c.2289C>G (p.Ala763=)
 gnomAD v4
11g.121558741C>TCA477218948SORL1c.2814C>T (p.Ala938=)
n.542C>T
n.520C>T
c.1275C>T (p.Ala425=)
c.174C>T (p.Ala58=)
c.2502C>T (p.Ala834=)
c.2289C>T (p.Ala763=)
 gnomAD v4
11g.121558742T>ACA383036001SORL1c.2815T>A (p.Tyr939Asn)
n.543T>A
n.521T>A
c.1276T>A (p.Tyr426Asn)
c.175T>A (p.Tyr59Asn)
c.2503T>A (p.Tyr835Asn)
c.2290T>A (p.Tyr764Asn)
11g.121558742T>CCA6329064SORL1c.2815T>C (p.Tyr939His)
n.543T>C
n.521T>C
c.1276T>C (p.Tyr426His)
c.175T>C (p.Tyr59His)
c.2503T>C (p.Tyr835His)
c.2290T>C (p.Tyr764His)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121558742T>GCA383036002SORL1c.2815T>G (p.Tyr939Asp)
n.543T>G
n.521T>G
c.1276T>G (p.Tyr426Asp)
c.175T>G (p.Tyr59Asp)
c.2503T>G (p.Tyr835Asp)
c.2290T>G (p.Tyr764Asp)
11g.121558742T=CA2004919349SORL1c.2815T= (p.Tyr939=)
n.543T=
n.521T=
c.1276T= (p.Tyr426=)
c.175T= (p.Tyr59=)
c.2503T= (p.Tyr835=)
c.2290T= (p.Tyr764=)
11g.121558743A>CCA383036003SORL1c.2816A>C (p.Tyr939Ser)
n.544A>C
n.522A>C
c.1277A>C (p.Tyr426Ser)
c.176A>C (p.Tyr59Ser)
c.2504A>C (p.Tyr835Ser)
c.2291A>C (p.Tyr764Ser)
11g.121558743A>GCA383036004SORL1c.2816A>G (p.Tyr939Cys)
n.544A>G
n.522A>G
c.1277A>G (p.Tyr426Cys)
c.176A>G (p.Tyr59Cys)
c.2504A>G (p.Tyr835Cys)
c.2291A>G (p.Tyr764Cys)
11g.121558743A>TCA383036005SORL1c.2816A>T (p.Tyr939Phe)
n.544A>T
n.522A>T
c.1277A>T (p.Tyr426Phe)
c.176A>T (p.Tyr59Phe)
c.2504A>T (p.Tyr835Phe)
c.2291A>T (p.Tyr764Phe)
11g.121558744C>ACA383036006SORL1c.2817C>A (p.Tyr939Ter)
n.545C>A
n.523C>A
c.1278C>A (p.Tyr426Ter)
c.177C>A (p.Tyr59Ter)
c.2505C>A (p.Tyr835Ter)
c.2292C>A (p.Tyr764Ter)
11g.121558744C>GCA383036007SORL1c.2817C>G (p.Tyr939Ter)
n.545C>G
n.523C>G
c.1278C>G (p.Tyr426Ter)
c.177C>G (p.Tyr59Ter)
c.2505C>G (p.Tyr835Ter)
c.2292C>G (p.Tyr764Ter)
11g.121558744C>TCA477218949SORL1c.2817C>T (p.Tyr939=)
n.545C>T
n.523C>T
c.1278C>T (p.Tyr426=)
c.177C>T (p.Tyr59=)
c.2505C>T (p.Tyr835=)
c.2292C>T (p.Tyr764=)
11g.121558745C>ACA383036008SORL1c.2818C>A (p.Leu940Met)
n.546C>A
n.524C>A
c.1279C>A (p.Leu427Met)
c.178C>A (p.Leu60Met)
c.2506C>A (p.Leu836Met)
c.2293C>A (p.Leu765Met)
11g.121558745C>GCA383036009SORL1c.2818C>G (p.Leu940Val)
n.546C>G
n.524C>G
c.1279C>G (p.Leu427Val)
c.178C>G (p.Leu60Val)
c.2506C>G (p.Leu836Val)
c.2293C>G (p.Leu765Val)
11g.121558745C>TCA477218950SORL1c.2818C>T (p.Leu940=)
n.546C>T
n.524C>T
c.1279C>T (p.Leu427=)
c.178C>T (p.Leu60=)
c.2506C>T (p.Leu836=)
c.2293C>T (p.Leu765=)
11g.121558746T>ACA383036010SORL1c.2819T>A (p.Leu940Gln)
n.547T>A
n.525T>A
c.1280T>A (p.Leu427Gln)
c.179T>A (p.Leu60Gln)
c.2507T>A (p.Leu836Gln)
c.2294T>A (p.Leu765Gln)
11g.121558746T>CCA383036011SORL1c.2819T>C (p.Leu940Pro)
n.547T>C
n.525T>C
c.1280T>C (p.Leu427Pro)
c.179T>C (p.Leu60Pro)
c.2507T>C (p.Leu836Pro)
c.2294T>C (p.Leu765Pro)
11g.121558746T>GCA383036012SORL1c.2819T>G (p.Leu940Arg)
n.547T>G
n.525T>G
c.1280T>G (p.Leu427Arg)
c.179T>G (p.Leu60Arg)
c.2507T>G (p.Leu836Arg)
c.2294T>G (p.Leu765Arg)
11g.121558747G>ACA477218951SORL1c.2820G>A (p.Leu940=)
n.548G>A
n.526G>A
c.1281G>A (p.Leu427=)
c.180G>A (p.Leu60=)
c.2508G>A (p.Leu836=)
c.2295G>A (p.Leu765=)
11g.121558747G>CCA477218952SORL1c.2820G>C (p.Leu940=)
n.548G>C
n.526G>C
c.1281G>C (p.Leu427=)
c.180G>C (p.Leu60=)
c.2508G>C (p.Leu836=)
c.2295G>C (p.Leu765=)
11g.121558747G>TCA477218953SORL1c.2820G>T (p.Leu940=)
n.548G>T
n.526G>T
c.1281G>T (p.Leu427=)
c.180G>T (p.Leu60=)
c.2508G>T (p.Leu836=)
c.2295G>T (p.Leu765=)
11g.121558748G>ACA6329065SORL1c.2821G>A (p.Glu941Lys)
n.549G>A
n.527G>A
c.1282G>A (p.Glu428Lys)
c.181G>A (p.Glu61Lys)
c.2509G>A (p.Glu837Lys)
c.2296G>A (p.Glu766Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121558748G>CCA383036013SORL1c.2821G>C (p.Glu941Gln)
n.549G>C
n.527G>C
c.1282G>C (p.Glu428Gln)
c.181G>C (p.Glu61Gln)
c.2509G>C (p.Glu837Gln)
c.2296G>C (p.Glu766Gln)
 gnomAD v4
11g.121558748G=CA2004919350SORL1c.2821G= (p.Glu941=)
n.549G=
n.527G=
c.1282G= (p.Glu428=)
c.181G= (p.Glu61=)
c.2509G= (p.Glu837=)
c.2296G= (p.Glu766=)
11g.121558748G>TCA383036014SORL1c.2821G>T (p.Glu941Ter)
n.549G>T
n.527G>T
c.1282G>T (p.Glu428Ter)
c.181G>T (p.Glu61Ter)
c.2509G>T (p.Glu837Ter)
c.2296G>T (p.Glu766Ter)
11g.121558749A>CCA383036015SORL1c.2822A>C (p.Glu941Ala)
n.550A>C
n.528A>C
c.1283A>C (p.Glu428Ala)
c.182A>C (p.Glu61Ala)
c.2510A>C (p.Glu837Ala)
c.2297A>C (p.Glu766Ala)
11g.121558749A>GCA383036016SORL1c.2822A>G (p.Glu941Gly)
n.550A>G
n.528A>G
c.1283A>G (p.Glu428Gly)
c.182A>G (p.Glu61Gly)
c.2510A>G (p.Glu837Gly)
c.2297A>G (p.Glu766Gly)
11g.121558749A>TCA383036017SORL1c.2822A>T (p.Glu941Val)
n.550A>T
n.528A>T
c.1283A>T (p.Glu428Val)
c.182A>T (p.Glu61Val)
c.2510A>T (p.Glu837Val)
c.2297A>T (p.Glu766Val)
11g.121558750G>ACA229902915SORL1c.2823G>A (p.Glu941=)
n.551G>A
n.529G>A
c.1284G>A (p.Glu428=)
c.183G>A (p.Glu61=)
c.2511G>A (p.Glu837=)
c.2298G>A (p.Glu766=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121558750G>CCA383036018SORL1c.2823G>C (p.Glu941Asp)
n.551G>C
n.529G>C
c.1284G>C (p.Glu428Asp)
c.183G>C (p.Glu61Asp)
c.2511G>C (p.Glu837Asp)
c.2298G>C (p.Glu766Asp)
 dbSNP
11g.121558750G=CA2004919351SORL1c.2823G= (p.Glu941=)
n.551G=
n.529G=
c.1284G= (p.Glu428=)
c.183G= (p.Glu61=)
c.2511G= (p.Glu837=)
c.2298G= (p.Glu766=)
11g.121558750G>TCA383036019SORL1c.2823G>T (p.Glu941Asp)
n.551G>T
n.529G>T
c.1284G>T (p.Glu428Asp)
c.183G>T (p.Glu61Asp)
c.2511G>T (p.Glu837Asp)
c.2298G>T (p.Glu766Asp)
11g.121558751T>ACA383036022SORL1c.2824T>A (p.Cys942Ser)
n.552T>A
n.530T>A
c.1285T>A (p.Cys429Ser)
c.184T>A (p.Cys62Ser)
c.2512T>A (p.Cys838Ser)
c.2299T>A (p.Cys767Ser)
11g.121558751T>CCA383036020SORL1c.2824T>C (p.Cys942Arg)
n.552T>C
n.530T>C
c.1285T>C (p.Cys429Arg)
c.184T>C (p.Cys62Arg)
c.2512T>C (p.Cys838Arg)
c.2299T>C (p.Cys767Arg)
11g.121558751T>GCA383036021SORL1c.2824T>G (p.Cys942Gly)
n.552T>G
n.530T>G
c.1285T>G (p.Cys429Gly)
c.184T>G (p.Cys62Gly)
c.2512T>G (p.Cys838Gly)
c.2299T>G (p.Cys767Gly)
11g.121558752G>ACA383036023SORL1c.2825G>A (p.Cys942Tyr)
n.553G>A
n.531G>A
c.1286G>A (p.Cys429Tyr)
c.185G>A (p.Cys62Tyr)
c.2513G>A (p.Cys838Tyr)
c.2300G>A (p.Cys767Tyr)
11g.121558752G>CCA383036024SORL1c.2825G>C (p.Cys942Ser)
n.553G>C
n.531G>C
c.1286G>C (p.Cys429Ser)
c.185G>C (p.Cys62Ser)
c.2513G>C (p.Cys838Ser)
c.2300G>C (p.Cys767Ser)
11g.121558752G>TCA383036025SORL1c.2825G>T (p.Cys942Phe)
n.553G>T
n.531G>T
c.1286G>T (p.Cys429Phe)
c.185G>T (p.Cys62Phe)
c.2513G>T (p.Cys838Phe)
c.2300G>T (p.Cys767Phe)
11g.121558753_121558757delCA2616498001SORL1c.2826_2830del (p.Cys942Ter)
n.554_558del
n.532_536del
c.1287_1291del (p.Cys429Ter)
c.186_190del (p.Cys62Ter)
c.2514_2518del (p.Cys838Ter)
c.2301_2305del (p.Cys767Ter)
 gnomAD v4
11g.121558753C>ACA383036026SORL1c.2826C>A (p.Cys942Ter)
n.554C>A
n.532C>A
c.1287C>A (p.Cys429Ter)
c.186C>A (p.Cys62Ter)
c.2514C>A (p.Cys838Ter)
c.2301C>A (p.Cys767Ter)
11g.121558753C=CA2004919352SORL1c.2826C= (p.Cys942=)
n.554C=
n.532C=
c.1287C= (p.Cys429=)
c.186C= (p.Cys62=)
c.2514C= (p.Cys838=)
c.2301C= (p.Cys767=)
11g.121558753C>GCA383036027SORL1c.2826C>G (p.Cys942Trp)
n.554C>G
n.532C>G
c.1287C>G (p.Cys429Trp)
c.186C>G (p.Cys62Trp)
c.2514C>G (p.Cys838Trp)
c.2301C>G (p.Cys767Trp)
11g.121558753C>TCA477218954SORL1c.2826C>T (p.Cys942=)
n.554C>T
n.532C>T
c.1287C>T (p.Cys429=)
c.186C>T (p.Cys62=)
c.2514C>T (p.Cys838=)
c.2301C>T (p.Cys767=)
 dbSNP
11g.121558754A=CA2004919353SORL1c.2827A= (p.Ile943=)
n.555A=
n.533A=
c.1288A= (p.Ile430=)
c.187A= (p.Ile63=)
c.2515A= (p.Ile839=)
c.2302A= (p.Ile768=)
11g.121558754A>CCA383036028SORL1c.2827A>C (p.Ile943Leu)
n.555A>C
n.533A>C
c.1288A>C (p.Ile430Leu)
c.187A>C (p.Ile63Leu)
c.2515A>C (p.Ile839Leu)
c.2302A>C (p.Ile768Leu)
11g.121558754A>GCA383036029SORL1c.2827A>G (p.Ile943Val)
n.555A>G
n.533A>G
c.1288A>G (p.Ile430Val)
c.187A>G (p.Ile63Val)
c.2515A>G (p.Ile839Val)
c.2302A>G (p.Ile768Val)
 ClinVar dbSNP gnomAD v4
11g.121558754A>TCA383036030SORL1c.2827A>T (p.Ile943Leu)
n.555A>T
n.533A>T
c.1288A>T (p.Ile430Leu)
c.187A>T (p.Ile63Leu)
c.2515A>T (p.Ile839Leu)
c.2302A>T (p.Ile768Leu)
11g.121558755T>ACA383036031SORL1c.2828T>A (p.Ile943Lys)
n.556T>A
n.534T>A
c.1289T>A (p.Ile430Lys)
c.188T>A (p.Ile63Lys)
c.2516T>A (p.Ile839Lys)
c.2303T>A (p.Ile768Lys)
11g.121558755T>CCA383036032SORL1c.2828T>C (p.Ile943Thr)
n.556T>C
n.534T>C
c.1289T>C (p.Ile430Thr)
c.188T>C (p.Ile63Thr)
c.2516T>C (p.Ile839Thr)
c.2303T>C (p.Ile768Thr)
11g.121558755T>GCA383036033SORL1c.2828T>G (p.Ile943Arg)
n.556T>G
n.534T>G
c.1289T>G (p.Ile430Arg)
c.188T>G (p.Ile63Arg)
c.2516T>G (p.Ile839Arg)
c.2303T>G (p.Ile768Arg)
 COSMIC
11g.121558755_121558756insTGCA2520058945SORL1c.2828_2829insTG (p.Arg945SerfsTer?)
n.556_557insTG
n.534_535insTG
c.1289_1290insTG (p.Arg432SerfsTer?)
c.188_189insTG (p.Arg65SerfsTer?)
c.2516_2517insTG (p.Arg841SerfsTer?)
c.2303_2304insTG (p.Arg770SerfsTer?)
11g.121558756A>CCA477218955SORL1c.2829A>C (p.Ile943=)
n.557A>C
n.535A>C
c.1290A>C (p.Ile430=)
c.189A>C (p.Ile63=)
c.2517A>C (p.Ile839=)
c.2304A>C (p.Ile768=)
11g.121558756A>GCA383036034SORL1c.2829A>G (p.Ile943Met)
n.557A>G
n.535A>G
c.1290A>G (p.Ile430Met)
c.189A>G (p.Ile63Met)
c.2517A>G (p.Ile839Met)
c.2304A>G (p.Ile768Met)
11g.121558756A>TCA477218956SORL1c.2829A>T (p.Ile943=)
n.557A>T
n.535A>T
c.1290A>T (p.Ile430=)
c.189A>T (p.Ile63=)
c.2517A>T (p.Ile839=)
c.2304A>T (p.Ile768=)
11g.121558757G>ACA383036036SORL1c.2830G>A (p.Glu944Lys)
n.558G>A
n.536G>A
c.1291G>A (p.Glu431Lys)
c.190G>A (p.Glu64Lys)
c.2518G>A (p.Glu840Lys)
c.2305G>A (p.Glu769Lys)
 dbSNP gnomAD v4 COSMIC
11g.121558757G>CCA229902917SORL1c.2830G>C (p.Glu944Gln)
n.558G>C
n.536G>C
c.1291G>C (p.Glu431Gln)
c.190G>C (p.Glu64Gln)
c.2518G>C (p.Glu840Gln)
c.2305G>C (p.Glu769Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121558757G=CA2004919354SORL1c.2830G= (p.Glu944=)
n.558G=
n.536G=
c.1291G= (p.Glu431=)
c.190G= (p.Glu64=)
c.2518G= (p.Glu840=)
c.2305G= (p.Glu769=)
11g.121558757G>TCA383036035SORL1c.2830G>T (p.Glu944Ter)
n.558G>T
n.536G>T
c.1291G>T (p.Glu431Ter)
c.190G>T (p.Glu64Ter)
c.2518G>T (p.Glu840Ter)
c.2305G>T (p.Glu769Ter)
11g.121558758A>CCA383036037SORL1c.2831A>C (p.Glu944Ala)
n.559A>C
n.537A>C
c.1292A>C (p.Glu431Ala)
c.191A>C (p.Glu64Ala)
c.2519A>C (p.Glu840Ala)
c.2306A>C (p.Glu769Ala)
11g.121558758A>GCA383036039SORL1c.2831A>G (p.Glu944Gly)
n.559A>G
n.537A>G
c.1292A>G (p.Glu431Gly)
c.191A>G (p.Glu64Gly)
c.2519A>G (p.Glu840Gly)
c.2306A>G (p.Glu769Gly)
11g.121558758A>TCA383036038SORL1c.2831A>T (p.Glu944Val)
n.559A>T
n.537A>T
c.1292A>T (p.Glu431Val)
c.191A>T (p.Glu64Val)
c.2519A>T (p.Glu840Val)
c.2306A>T (p.Glu769Val)
11g.121558759G>ACA477218957SORL1c.2832G>A (p.Glu944=)
n.560G>A
n.538G>A
c.1293G>A (p.Glu431=)
c.192G>A (p.Glu64=)
c.2520G>A (p.Glu840=)
c.2307G>A (p.Glu769=)
11g.121558759G>CCA383036040SORL1c.2832G>C (p.Glu944Asp)
n.560G>C
n.538G>C
c.1293G>C (p.Glu431Asp)
c.192G>C (p.Glu64Asp)
c.2520G>C (p.Glu840Asp)
c.2307G>C (p.Glu769Asp)
11g.121558759G>TCA383036041SORL1c.2832G>T (p.Glu944Asp)
n.560G>T
n.538G>T
c.1293G>T (p.Glu431Asp)
c.192G>T (p.Glu64Asp)
c.2520G>T (p.Glu840Asp)
c.2307G>T (p.Glu769Asp)
11g.121558759_121558760insGGCA2502625166SORL1c.2832_2833insGG (p.Arg945GlyfsTer?)
n.560_561insGG
n.538_539insGG
c.1293_1294insGG (p.Arg432GlyfsTer?)
c.192_193insGG (p.Arg65GlyfsTer?)
c.2520_2521insGG (p.Arg841GlyfsTer?)
c.2307_2308insGG (p.Arg770GlyfsTer?)
11g.121558760C>ACA477218958SORL1c.2833C>A (p.Arg945=)
n.561C>A
n.539C>A
c.1294C>A (p.Arg432=)
c.193C>A (p.Arg65=)
c.2521C>A (p.Arg841=)
c.2308C>A (p.Arg770=)
11g.121558760C=CA2004919355SORL1c.2833C= (p.Arg945=)
n.561C=
n.539C=
c.1294C= (p.Arg432=)
c.193C= (p.Arg65=)
c.2521C= (p.Arg841=)
c.2308C= (p.Arg770=)
11g.121558760C>GCA383036042SORL1c.2833C>G (p.Arg945Gly)
n.561C>G
n.539C>G
c.1294C>G (p.Arg432Gly)
c.193C>G (p.Arg65Gly)
c.2521C>G (p.Arg841Gly)
c.2308C>G (p.Arg770Gly)
 dbSNP gnomAD v2
11g.121558760C>TCA383036043SORL1c.2833C>T (p.Arg945Trp)
n.561C>T
n.539C>T
c.1294C>T (p.Arg432Trp)
c.193C>T (p.Arg65Trp)
c.2521C>T (p.Arg841Trp)
c.2308C>T (p.Arg770Trp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121558761G>ACA6329066SORL1c.2834G>A (p.Arg945Gln)
n.562G>A
n.540G>A
c.1295G>A (p.Arg432Gln)
c.194G>A (p.Arg65Gln)
c.2522G>A (p.Arg841Gln)
c.2309G>A (p.Arg770Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121558761G>CCA383036044SORL1c.2834G>C (p.Arg945Pro)
n.562G>C
n.540G>C
c.1295G>C (p.Arg432Pro)
c.194G>C (p.Arg65Pro)
c.2522G>C (p.Arg841Pro)
c.2309G>C (p.Arg770Pro)
11g.121558761G=CA2004919356SORL1c.2834G= (p.Arg945=)
n.562G=
n.540G=
c.1295G= (p.Arg432=)
c.194G= (p.Arg65=)
c.2522G= (p.Arg841=)
c.2309G= (p.Arg770=)
11g.121558761G>TCA383036045SORL1c.2834G>T (p.Arg945Leu)
n.562G>T
n.540G>T
c.1295G>T (p.Arg432Leu)
c.194G>T (p.Arg65Leu)
c.2522G>T (p.Arg841Leu)
c.2309G>T (p.Arg770Leu)
11g.121558762G>ACA477218961SORL1c.2835G>A (p.Arg945=)
n.563G>A
n.541G>A
c.1296G>A (p.Arg432=)
c.195G>A (p.Arg65=)
c.2523G>A (p.Arg841=)
c.2310G>A (p.Arg770=)
11g.121558762G>CCA477218959SORL1c.2835G>C (p.Arg945=)
n.563G>C
n.541G>C
c.1296G>C (p.Arg432=)
c.195G>C (p.Arg65=)
c.2523G>C (p.Arg841=)
c.2310G>C (p.Arg770=)
11g.121558762G>TCA477218960SORL1c.2835G>T (p.Arg945=)
n.563G>T
n.541G>T
c.1296G>T (p.Arg432=)
c.195G>T (p.Arg65=)
c.2523G>T (p.Arg841=)
c.2310G>T (p.Arg770=)
11g.121558763A=CA2004919357SORL1c.2836A= (p.Ile946=)
n.564A=
n.542A=
c.1297A= (p.Ile433=)
c.196A= (p.Ile66=)
c.2524A= (p.Ile842=)
c.2311A= (p.Ile771=)
11g.121558763A>CCA383036046SORL1c.2836A>C (p.Ile946Leu)
n.564A>C
n.542A>C
c.1297A>C (p.Ile433Leu)
c.196A>C (p.Ile66Leu)
c.2524A>C (p.Ile842Leu)
c.2311A>C (p.Ile771Leu)
11g.121558763A>GCA6329067SORL1c.2836A>G (p.Ile946Val)
n.564A>G
n.542A>G
c.1297A>G (p.Ile433Val)
c.196A>G (p.Ile66Val)
c.2524A>G (p.Ile842Val)
c.2311A>G (p.Ile771Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121558763A>TCA383036047SORL1c.2836A>T (p.Ile946Phe)
n.564A>T
n.542A>T
c.1297A>T (p.Ile433Phe)
c.196A>T (p.Ile66Phe)
c.2524A>T (p.Ile842Phe)
c.2311A>T (p.Ile771Phe)
11g.121558764T>ACA383036048SORL1c.2837T>A (p.Ile946Asn)
n.565T>A
n.543T>A
c.1298T>A (p.Ile433Asn)
c.197T>A (p.Ile66Asn)
c.2525T>A (p.Ile842Asn)
c.2312T>A (p.Ile771Asn)
11g.121558764T>CCA383036049SORL1c.2837T>C (p.Ile946Thr)
n.565T>C
n.543T>C
c.1298T>C (p.Ile433Thr)
c.197T>C (p.Ile66Thr)
c.2525T>C (p.Ile842Thr)
c.2312T>C (p.Ile771Thr)
 gnomAD v4
11g.121558764T>GCA383036050SORL1c.2837T>G (p.Ile946Ser)
n.565T>G
n.543T>G
c.1298T>G (p.Ile433Ser)
c.197T>G (p.Ile66Ser)
c.2525T>G (p.Ile842Ser)
c.2312T>G (p.Ile771Ser)
11g.121558765C>ACA477218962SORL1c.2838C>A (p.Ile946=)
n.566C>A
n.544C>A
c.1299C>A (p.Ile433=)
c.198C>A (p.Ile66=)
c.2526C>A (p.Ile842=)
c.2313C>A (p.Ile771=)
11g.121558765C>GCA383036051SORL1c.2838C>G (p.Ile946Met)
n.566C>G
n.544C>G
c.1299C>G (p.Ile433Met)
c.198C>G (p.Ile66Met)
c.2526C>G (p.Ile842Met)
c.2313C>G (p.Ile771Met)
11g.121558765C>TCA477218963SORL1c.2838C>T (p.Ile946=)
n.566C>T
n.544C>T
c.1299C>T (p.Ile433=)
c.198C>T (p.Ile66=)
c.2526C>T (p.Ile842=)
c.2313C>T (p.Ile771=)
 COSMIC
11g.121558765_121558768delCA2556713216SORL1c.2838_2841del (p.Thr947SerfsTer?)
n.566_569del
n.544_547del
c.1299_1302del (p.Thr434SerfsTer?)
c.198_201del (p.Thr67SerfsTer?)
c.2526_2529del (p.Thr843SerfsTer?)
c.2313_2316del (p.Thr772SerfsTer?)
11g.121558766A>CCA383036052SORL1c.2839A>C (p.Thr947Pro)
n.567A>C
n.545A>C
c.1300A>C (p.Thr434Pro)
c.199A>C (p.Thr67Pro)
c.2527A>C (p.Thr843Pro)
c.2314A>C (p.Thr772Pro)
11g.121558766A>GCA383036053SORL1c.2839A>G (p.Thr947Ala)
n.567A>G
n.545A>G
c.1300A>G (p.Thr434Ala)
c.199A>G (p.Thr67Ala)
c.2527A>G (p.Thr843Ala)
c.2314A>G (p.Thr772Ala)
11g.121558766A>TCA383036054SORL1c.2839A>T (p.Thr947Ser)
n.567A>T
n.545A>T
c.1300A>T (p.Thr434Ser)
c.199A>T (p.Thr67Ser)
c.2527A>T (p.Thr843Ser)
c.2314A>T (p.Thr772Ser)
11g.121558767C>ACA383036055SORL1c.2840C>A (p.Thr947Lys)
n.568C>A
n.546C>A
c.1301C>A (p.Thr434Lys)
c.200C>A (p.Thr67Lys)
c.2528C>A (p.Thr843Lys)
c.2315C>A (p.Thr772Lys)
 dbSNP gnomAD v4
11g.121558767C=CA2004919358SORL1c.2840C= (p.Thr947=)
n.568C=
n.546C=
c.1301C= (p.Thr434=)
c.200C= (p.Thr67=)
c.2528C= (p.Thr843=)
c.2315C= (p.Thr772=)
11g.121558767C>GCA383036056SORL1c.2840C>G (p.Thr947Arg)
n.568C>G
n.546C>G
c.1301C>G (p.Thr434Arg)
c.200C>G (p.Thr67Arg)
c.2528C>G (p.Thr843Arg)
c.2315C>G (p.Thr772Arg)
11g.121558767C>TCA6329068SORL1c.2840C>T (p.Thr947Met)
n.568C>T
n.546C>T
c.1301C>T (p.Thr434Met)
c.200C>T (p.Thr67Met)
c.2528C>T (p.Thr843Met)
c.2315C>T (p.Thr772Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121558768G>ACA6329069SORL1c.2841G>A (p.Thr947=)
n.569G>A
n.547G>A
c.1302G>A (p.Thr434=)
c.201G>A (p.Thr67=)
c.2529G>A (p.Thr843=)
c.2316G>A (p.Thr772=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121558768G>CCA477218964SORL1c.2841G>C (p.Thr947=)
n.569G>C
n.547G>C
c.1302G>C (p.Thr434=)
c.201G>C (p.Thr67=)
c.2529G>C (p.Thr843=)
c.2316G>C (p.Thr772=)
 dbSNP
11g.121558768G=CA2004919359SORL1c.2841G= (p.Thr947=)
n.569G=
n.547G=
c.1302G= (p.Thr434=)
c.201G= (p.Thr67=)
c.2529G= (p.Thr843=)
c.2316G= (p.Thr772=)
11g.121558768G>TCA477218965SORL1c.2841G>T (p.Thr947=)
n.569G>T
n.547G>T
c.1302G>T (p.Thr434=)
c.201G>T (p.Thr67=)
c.2529G>T (p.Thr843=)
c.2316G>T (p.Thr772=)
 ClinVar gnomAD v4
11g.121558769T>ACA383036057SORL1c.2842T>A (p.Phe948Ile)
n.570T>A
n.548T>A
c.1303T>A (p.Phe435Ile)
c.202T>A (p.Phe68Ile)
c.2530T>A (p.Phe844Ile)
c.2317T>A (p.Phe773Ile)
11g.121558769T>CCA383036058SORL1c.2842T>C (p.Phe948Leu)
n.570T>C
n.548T>C
c.1303T>C (p.Phe435Leu)
c.202T>C (p.Phe68Leu)
c.2530T>C (p.Phe844Leu)
c.2317T>C (p.Phe773Leu)
11g.121558769T>GCA383036059SORL1c.2842T>G (p.Phe948Val)
n.570T>G
n.548T>G
c.1303T>G (p.Phe435Val)
c.202T>G (p.Phe68Val)
c.2530T>G (p.Phe844Val)
c.2317T>G (p.Phe773Val)
 dbSNP
11g.121558769T=CA2004919360SORL1c.2842T= (p.Phe948=)
n.570T=
n.548T=
c.1303T= (p.Phe435=)
c.202T= (p.Phe68=)
c.2530T= (p.Phe844=)
c.2317T= (p.Phe773=)
11g.121558770T>ACA383036060SORL1c.2843T>A (p.Phe948Tyr)
n.571T>A
n.549T>A
c.1304T>A (p.Phe435Tyr)
c.203T>A (p.Phe68Tyr)
c.2531T>A (p.Phe844Tyr)
c.2318T>A (p.Phe773Tyr)
11g.121558770T>CCA383036061SORL1c.2843T>C (p.Phe948Ser)
n.571T>C
n.549T>C
c.1304T>C (p.Phe435Ser)
c.203T>C (p.Phe68Ser)
c.2531T>C (p.Phe844Ser)
c.2318T>C (p.Phe773Ser)
11g.121558770T>GCA383036062SORL1c.2843T>G (p.Phe948Cys)
n.571T>G
n.549T>G
c.1304T>G (p.Phe435Cys)
c.203T>G (p.Phe68Cys)
c.2531T>G (p.Phe844Cys)
c.2318T>G (p.Phe773Cys)
 dbSNP gnomAD v3 gnomAD v4
11g.121558770T=CA2004919361SORL1c.2843T= (p.Phe948=)
n.571T=
n.549T=
c.1304T= (p.Phe435=)
c.203T= (p.Phe68=)
c.2531T= (p.Phe844=)
c.2318T= (p.Phe773=)
11g.121558771C>ACA383036064SORL1c.2844C>A (p.Phe948Leu)
n.572C>A
n.550C>A
c.1305C>A (p.Phe435Leu)
c.204C>A (p.Phe68Leu)
c.2532C>A (p.Phe844Leu)
c.2319C>A (p.Phe773Leu)
11g.121558771C>GCA383036063SORL1c.2844C>G (p.Phe948Leu)
n.572C>G
n.550C>G
c.1305C>G (p.Phe435Leu)
c.204C>G (p.Phe68Leu)
c.2532C>G (p.Phe844Leu)
c.2319C>G (p.Phe773Leu)
11g.121558771C>TCA477218966SORL1c.2844C>T (p.Phe948=)
n.572C>T
n.550C>T
c.1305C>T (p.Phe435=)
c.204C>T (p.Phe68=)
c.2532C>T (p.Phe844=)
c.2319C>T (p.Phe773=)
11g.121558772A>CCA383036065SORL1c.2845A>C (p.Ser949Arg)
n.573A>C
n.551A>C
c.1306A>C (p.Ser436Arg)
c.205A>C (p.Ser69Arg)
c.2533A>C (p.Ser845Arg)
c.2320A>C (p.Ser774Arg)
11g.121558772A>GCA383036066SORL1c.2845A>G (p.Ser949Gly)
n.573A>G
n.551A>G
c.1306A>G (p.Ser436Gly)
c.205A>G (p.Ser69Gly)
c.2533A>G (p.Ser845Gly)
c.2320A>G (p.Ser774Gly)
11g.121558772A>TCA383036067SORL1c.2845A>T (p.Ser949Cys)
n.573A>T
n.551A>T
c.1306A>T (p.Ser436Cys)
c.205A>T (p.Ser69Cys)
c.2533A>T (p.Ser845Cys)
c.2320A>T (p.Ser774Cys)
11g.121558773G>ACA383036068SORL1c.2846G>A (p.Ser949Asn)
n.574G>A
n.552G>A
c.1307G>A (p.Ser436Asn)
c.206G>A (p.Ser69Asn)
c.2534G>A (p.Ser845Asn)
c.2321G>A (p.Ser774Asn)
11g.121558773G>CCA383036069SORL1c.2846G>C (p.Ser949Thr)
n.574G>C
n.552G>C
c.1307G>C (p.Ser436Thr)
c.206G>C (p.Ser69Thr)
c.2534G>C (p.Ser845Thr)
c.2321G>C (p.Ser774Thr)
11g.121558773G>TCA383036070SORL1c.2846G>T (p.Ser949Ile)
n.574G>T
n.552G>T
c.1307G>T (p.Ser436Ile)
c.206G>T (p.Ser69Ile)
c.2534G>T (p.Ser845Ile)
c.2321G>T (p.Ser774Ile)
11g.121558774T>ACA383036072SORL1c.2847T>A (p.Ser949Arg)
n.553T>A
c.1308T>A (p.Ser436Arg)
c.207T>A (p.Ser69Arg)
c.2535T>A (p.Ser845Arg)
c.2322T>A (p.Ser774Arg)
11g.121558774T>CCA477218967SORL1c.2847T>C (p.Ser949=)
n.553T>C
c.1308T>C (p.Ser436=)
c.207T>C (p.Ser69=)
c.2535T>C (p.Ser845=)
c.2322T>C (p.Ser774=)
 dbSNP gnomAD v4
11g.121558774T>GCA383036071SORL1c.2847T>G (p.Ser949Arg)
n.553T>G
c.1308T>G (p.Ser436Arg)
c.207T>G (p.Ser69Arg)
c.2535T>G (p.Ser845Arg)
c.2322T>G (p.Ser774Arg)
11g.121558774T=CA2004919362SORL1c.2847T= (p.Ser949=)
n.553T=
c.1308T= (p.Ser436=)
c.207T= (p.Ser69=)
c.2535T= (p.Ser845=)
c.2322T= (p.Ser774=)
11g.121558775G>ACA383036073SORL1c.2848G>A (p.Gly950Ser)
n.554G>A
c.1309G>A (p.Gly437Ser)
c.208G>A (p.Gly70Ser)
c.2536G>A (p.Gly846Ser)
c.2323G>A (p.Gly775Ser)
 gnomAD v4
11g.121558775G>CCA383036074SORL1c.2848G>C (p.Gly950Arg)
n.554G>C
c.1309G>C (p.Gly437Arg)
c.208G>C (p.Gly70Arg)
c.2536G>C (p.Gly846Arg)
c.2323G>C (p.Gly775Arg)
11g.121558775G>TCA383036075SORL1c.2848G>T (p.Gly950Cys)
n.554G>T
c.1309G>T (p.Gly437Cys)
c.208G>T (p.Gly70Cys)
c.2536G>T (p.Gly846Cys)
c.2323G>T (p.Gly775Cys)
11g.121558776G>ACA383036076SORL1c.2849G>A (p.Gly950Asp)
n.555G>A
c.1310G>A (p.Gly437Asp)
c.209G>A (p.Gly70Asp)
c.2537G>A (p.Gly846Asp)
c.2324G>A (p.Gly775Asp)
11g.121558776G>CCA383036077SORL1c.2849G>C (p.Gly950Ala)
n.555G>C
c.1310G>C (p.Gly437Ala)
c.209G>C (p.Gly70Ala)
c.2537G>C (p.Gly846Ala)
c.2324G>C (p.Gly775Ala)
11g.121558776G>TCA383036078SORL1c.2849G>T (p.Gly950Val)
n.555G>T
c.1310G>T (p.Gly437Val)
c.209G>T (p.Gly70Val)
c.2537G>T (p.Gly846Val)
c.2324G>T (p.Gly775Val)
11g.121558777C>ACA477218968SORL1c.2850C>A (p.Gly950=)
n.556C>A
c.1311C>A (p.Gly437=)
c.210C>A (p.Gly70=)
c.2538C>A (p.Gly846=)
c.2325C>A (p.Gly775=)
11g.121558777C=CA2004919363SORL1c.2850C= (p.Gly950=)
n.556C=
c.1311C= (p.Gly437=)
c.210C= (p.Gly70=)
c.2538C= (p.Gly846=)
c.2325C= (p.Gly775=)
11g.121558777C>GCA477218969SORL1c.2850C>G (p.Gly950=)
n.556C>G
c.1311C>G (p.Gly437=)
c.210C>G (p.Gly70=)
c.2538C>G (p.Gly846=)
c.2325C>G (p.Gly775=)
11g.121558777C>TCA229902943SORL1c.2850C>T (p.Gly950=)
n.556C>T
c.1311C>T (p.Gly437=)
c.210C>T (p.Gly70=)
c.2538C>T (p.Gly846=)
c.2325C>T (p.Gly775=)
 dbSNP gnomAD v4
11g.121558778C>ACA383036081SORL1c.2851C>A (p.Gln951Lys)
n.557C>A
c.1312C>A (p.Gln438Lys)
c.211C>A (p.Gln71Lys)
c.2539C>A (p.Gln847Lys)
c.2326C>A (p.Gln776Lys)
11g.121558778C>GCA383036079SORL1c.2851C>G (p.Gln951Glu)
n.557C>G
c.1312C>G (p.Gln438Glu)
c.211C>G (p.Gln71Glu)
c.2539C>G (p.Gln847Glu)
c.2326C>G (p.Gln776Glu)
11g.121558778C>TCA383036080SORL1c.2851C>T (p.Gln951Ter)
n.557C>T
c.1312C>T (p.Gln438Ter)
c.211C>T (p.Gln71Ter)
c.2539C>T (p.Gln847Ter)
c.2326C>T (p.Gln776Ter)
 gnomAD v4
11g.121558779A>CCA383036082SORL1c.2852A>C (p.Gln951Pro)
n.558A>C
c.1313A>C (p.Gln438Pro)
c.212A>C (p.Gln71Pro)
c.2540A>C (p.Gln847Pro)
c.2327A>C (p.Gln776Pro)
11g.121558779A>GCA383036083SORL1c.2852A>G (p.Gln951Arg)
n.558A>G
c.1313A>G (p.Gln438Arg)
c.212A>G (p.Gln71Arg)
c.2540A>G (p.Gln847Arg)
c.2327A>G (p.Gln776Arg)
11g.121558779A>TCA383036084SORL1c.2852A>T (p.Gln951Leu)
n.558A>T
c.1313A>T (p.Gln438Leu)
c.212A>T (p.Gln71Leu)
c.2540A>T (p.Gln847Leu)
c.2327A>T (p.Gln776Leu)
 gnomAD v4
11g.121558780G>ACA477218970SORL1c.2853G>A (p.Gln951=)
n.559G>A
c.1314G>A (p.Gln438=)
c.213G>A (p.Gln71=)
c.2541G>A (p.Gln847=)
c.2328G>A (p.Gln776=)
11g.121558780G>CCA383036085SORL1c.2853G>C (p.Gln951His)
n.559G>C
c.1314G>C (p.Gln438His)
c.213G>C (p.Gln71His)
c.2541G>C (p.Gln847His)
c.2328G>C (p.Gln776His)
11g.121558780G>TCA383036086SORL1c.2853G>T (p.Gln951His)
n.559G>T
c.1314G>T (p.Gln438His)
c.213G>T (p.Gln71His)
c.2541G>T (p.Gln847His)
c.2328G>T (p.Gln776His)

Number of alleles fetched