Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
11g.121558781C>ACA383036087SORL1c.2854C>A (p.Gln952Lys)
n.560C>A
c.1315C>A (p.Gln439Lys)
c.214C>A (p.Gln72Lys)
c.2542C>A (p.Gln848Lys)
c.2329C>A (p.Gln777Lys)
11g.121558781C=CA2004919364SORL1c.2854C= (p.Gln952=)
n.560C=
c.1315C= (p.Gln439=)
c.214C= (p.Gln72=)
c.2542C= (p.Gln848=)
c.2329C= (p.Gln777=)
11g.121558781C>GCA383036088SORL1c.2854C>G (p.Gln952Glu)
n.560C>G
c.1315C>G (p.Gln439Glu)
c.214C>G (p.Gln72Glu)
c.2542C>G (p.Gln848Glu)
c.2329C>G (p.Gln777Glu)
 ClinVar dbSNP gnomAD v4
11g.121558781C>TCA383036089SORL1c.2854C>T (p.Gln952Ter)
n.560C>T
c.1315C>T (p.Gln439Ter)
c.214C>T (p.Gln72Ter)
c.2542C>T (p.Gln848Ter)
c.2329C>T (p.Gln777Ter)
11g.121558782A>CCA383036090SORL1c.2855A>C (p.Gln952Pro)
n.561A>C
c.1316A>C (p.Gln439Pro)
c.215A>C (p.Gln72Pro)
c.2543A>C (p.Gln848Pro)
c.2330A>C (p.Gln777Pro)
11g.121558782A>GCA383036091SORL1c.2855A>G (p.Gln952Arg)
n.561A>G
c.1316A>G (p.Gln439Arg)
c.215A>G (p.Gln72Arg)
c.2543A>G (p.Gln848Arg)
c.2330A>G (p.Gln777Arg)
11g.121558782A>TCA383036092SORL1c.2855A>T (p.Gln952Leu)
n.561A>T
c.1316A>T (p.Gln439Leu)
c.215A>T (p.Gln72Leu)
c.2543A>T (p.Gln848Leu)
c.2330A>T (p.Gln777Leu)
11g.121558783G>ACA477218971SORL1c.2856G>A (p.Gln952=)
n.562G>A
c.1317G>A (p.Gln439=)
c.216G>A (p.Gln72=)
c.2544G>A (p.Gln848=)
c.2331G>A (p.Gln777=)
11g.121558783G>CCA383036093SORL1c.2856G>C (p.Gln952His)
n.562G>C
c.1317G>C (p.Gln439His)
c.216G>C (p.Gln72His)
c.2544G>C (p.Gln848His)
c.2331G>C (p.Gln777His)
11g.121558783G>TCA383036094SORL1c.2856G>T (p.Gln952His)
n.562G>T
c.1317G>T (p.Gln439His)
c.216G>T (p.Gln72His)
c.2544G>T (p.Gln848His)
c.2331G>T (p.Gln777His)
11g.121558784C>ACA383036095SORL1c.2857C>A (p.Arg953Ser)
n.563C>A
c.1318C>A (p.Arg440Ser)
c.217C>A (p.Arg73Ser)
c.2545C>A (p.Arg849Ser)
c.2332C>A (p.Arg778Ser)
 gnomAD v4
11g.121558784C=CA2004919365SORL1c.2857C= (p.Arg953=)
n.563C=
c.1318C= (p.Arg440=)
c.217C= (p.Arg73=)
c.2545C= (p.Arg849=)
c.2332C= (p.Arg778=)
11g.121558784C>GCA383036096SORL1c.2857C>G (p.Arg953Gly)
n.563C>G
c.1318C>G (p.Arg440Gly)
c.217C>G (p.Arg73Gly)
c.2545C>G (p.Arg849Gly)
c.2332C>G (p.Arg778Gly)
11g.121558784C>TCA6329070SORL1c.2857C>T (p.Arg953Cys)
n.563C>T
c.1318C>T (p.Arg440Cys)
c.217C>T (p.Arg73Cys)
c.2545C>T (p.Arg849Cys)
c.2332C>T (p.Arg778Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.121558784_121558785insAACAAATGGACTCACCTTAAAGACAGCAATGGCATAGGGGTGCGCA2793898513SORL1c.2857_2858insAACAAATGGACTCACCTTAAAGACAGCAATGGCATAGGGGTGCG (p.Arg953GlnfsTer7)
n.563_564insAACAAATGGACTCACCTTAAAGACAGCAATGGCATAGGGGTGCG
c.1318_1319insAACAAATGGACTCACCTTAAAGACAGCAATGGCATAGGGGTGCG (p.Arg440GlnfsTer7)
c.217_218insAACAAATGGACTCACCTTAAAGACAGCAATGGCATAGGGGTGCG (p.Arg73GlnfsTer7)
c.2545_2546insAACAAATGGACTCACCTTAAAGACAGCAATGGCATAGGGGTGCG (p.Arg849GlnfsTer7)
c.2332_2333insAACAAATGGACTCACCTTAAAGACAGCAATGGCATAGGGGTGCG (p.Arg778GlnfsTer7)
11g.121558785G>ACA6329071SORL1c.2858G>A (p.Arg953His)
n.564G>A
c.1319G>A (p.Arg440His)
c.218G>A (p.Arg73His)
c.2546G>A (p.Arg849His)
c.2333G>A (p.Arg778His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121558785G>CCA383036097SORL1c.2858G>C (p.Arg953Pro)
n.564G>C
c.1319G>C (p.Arg440Pro)
c.218G>C (p.Arg73Pro)
c.2546G>C (p.Arg849Pro)
c.2333G>C (p.Arg778Pro)
11g.121558785G=CA2004919366SORL1c.2858G= (p.Arg953=)
n.564G=
c.1319G= (p.Arg440=)
c.218G= (p.Arg73=)
c.2546G= (p.Arg849=)
c.2333G= (p.Arg778=)
11g.121558785G>TCA383036098SORL1c.2858G>T (p.Arg953Leu)
n.564G>T
c.1319G>T (p.Arg440Leu)
c.218G>T (p.Arg73Leu)
c.2546G>T (p.Arg849Leu)
c.2333G>T (p.Arg778Leu)
 gnomAD v4
11g.121558786C>ACA477218974SORL1c.2859C>A (p.Arg953=)
n.565C>A
c.1320C>A (p.Arg440=)
c.219C>A (p.Arg73=)
c.2547C>A (p.Arg849=)
c.2334C>A (p.Arg778=)
11g.121558786C=CA2004919367SORL1c.2859C= (p.Arg953=)
n.565C=
c.1320C= (p.Arg440=)
c.219C= (p.Arg73=)
c.2547C= (p.Arg849=)
c.2334C= (p.Arg778=)
11g.121558786C>GCA477218972SORL1c.2859C>G (p.Arg953=)
n.565C>G
c.1320C>G (p.Arg440=)
c.219C>G (p.Arg73=)
c.2547C>G (p.Arg849=)
c.2334C>G (p.Arg778=)
11g.121558786C>TCA477218973SORL1c.2859C>T (p.Arg953=)
n.565C>T
c.1320C>T (p.Arg440=)
c.219C>T (p.Arg73=)
c.2547C>T (p.Arg849=)
c.2334C>T (p.Arg778=)
 dbSNP
11g.121558787T>ACA383036099SORL1c.2860T>A (p.Ser954Thr)
n.566T>A
c.1321T>A (p.Ser441Thr)
c.220T>A (p.Ser74Thr)
c.2548T>A (p.Ser850Thr)
c.2335T>A (p.Ser779Thr)
11g.121558787T>CCA383036100SORL1c.2860T>C (p.Ser954Pro)
n.566T>C
c.1321T>C (p.Ser441Pro)
c.220T>C (p.Ser74Pro)
c.2548T>C (p.Ser850Pro)
c.2335T>C (p.Ser779Pro)
 dbSNP gnomAD v3 gnomAD v4
11g.121558787T>GCA383036101SORL1c.2860T>G (p.Ser954Ala)
n.566T>G
c.1321T>G (p.Ser441Ala)
c.220T>G (p.Ser74Ala)
c.2548T>G (p.Ser850Ala)
c.2335T>G (p.Ser779Ala)
11g.121558787T=CA2004919368SORL1c.2860T= (p.Ser954=)
n.566T=
c.1321T= (p.Ser441=)
c.220T= (p.Ser74=)
c.2548T= (p.Ser850=)
c.2335T= (p.Ser779=)
11g.121558788C>ACA383036104SORL1c.2861C>A (p.Ser954Tyr)
n.567C>A
c.1322C>A (p.Ser441Tyr)
c.221C>A (p.Ser74Tyr)
c.2549C>A (p.Ser850Tyr)
c.2336C>A (p.Ser779Tyr)
11g.121558788C>GCA383036103SORL1c.2861C>G (p.Ser954Cys)
n.567C>G
c.1322C>G (p.Ser441Cys)
c.221C>G (p.Ser74Cys)
c.2549C>G (p.Ser850Cys)
c.2336C>G (p.Ser779Cys)
11g.121558788C>TCA383036102SORL1c.2861C>T (p.Ser954Phe)
n.567C>T
c.1322C>T (p.Ser441Phe)
c.221C>T (p.Ser74Phe)
c.2549C>T (p.Ser850Phe)
c.2336C>T (p.Ser779Phe)
 gnomAD v4
11g.121558789T>ACA477218976SORL1c.2862T>A (p.Ser954=)
n.568T>A
c.1323T>A (p.Ser441=)
c.222T>A (p.Ser74=)
c.2550T>A (p.Ser850=)
c.2337T>A (p.Ser779=)
11g.121558789T>CCA477218977SORL1c.2862T>C (p.Ser954=)
n.568T>C
c.1323T>C (p.Ser441=)
c.222T>C (p.Ser74=)
c.2550T>C (p.Ser850=)
c.2337T>C (p.Ser779=)
 dbSNP
11g.121558789T>GCA477218975SORL1c.2862T>G (p.Ser954=)
n.568T>G
c.1323T>G (p.Ser441=)
c.222T>G (p.Ser74=)
c.2550T>G (p.Ser850=)
c.2337T>G (p.Ser779=)
11g.121558790G>ACA383036105SORL1c.2863G>A (p.Val955Ile)
n.569G>A
c.1324G>A (p.Val442Ile)
c.223G>A (p.Val75Ile)
c.2551G>A (p.Val851Ile)
c.2338G>A (p.Val780Ile)
11g.121558790G>CCA383036106SORL1c.2863G>C (p.Val955Leu)
n.569G>C
c.1324G>C (p.Val442Leu)
c.223G>C (p.Val75Leu)
c.2551G>C (p.Val851Leu)
c.2338G>C (p.Val780Leu)
11g.121558790G>TCA383036107SORL1c.2863G>T (p.Val955Phe)
n.569G>T
c.1324G>T (p.Val442Phe)
c.223G>T (p.Val75Phe)
c.2551G>T (p.Val851Phe)
c.2338G>T (p.Val780Phe)
11g.121558791T>ACA383036108SORL1c.2864T>A (p.Val955Asp)
n.570T>A
c.1325T>A (p.Val442Asp)
c.224T>A (p.Val75Asp)
c.2552T>A (p.Val851Asp)
c.2339T>A (p.Val780Asp)
11g.121558791T>CCA383036109SORL1c.2864T>C (p.Val955Ala)
n.570T>C
c.1325T>C (p.Val442Ala)
c.224T>C (p.Val75Ala)
c.2552T>C (p.Val851Ala)
c.2339T>C (p.Val780Ala)
 gnomAD v4
11g.121558791T>GCA383036110SORL1c.2864T>G (p.Val955Gly)
n.570T>G
c.1325T>G (p.Val442Gly)
c.224T>G (p.Val75Gly)
c.2552T>G (p.Val851Gly)
c.2339T>G (p.Val780Gly)
11g.121558792C>ACA477218978SORL1c.2865C>A (p.Val955=)
n.571C>A
c.1326C>A (p.Val442=)
c.225C>A (p.Val75=)
c.2553C>A (p.Val851=)
c.2340C>A (p.Val780=)
11g.121558792C>GCA477218979SORL1c.2865C>G (p.Val955=)
n.571C>G
c.1326C>G (p.Val442=)
c.225C>G (p.Val75=)
c.2553C>G (p.Val851=)
c.2340C>G (p.Val780=)
11g.121558792C>TCA477218980SORL1c.2865C>T (p.Val955=)
n.571C>T
c.1326C>T (p.Val442=)
c.225C>T (p.Val75=)
c.2553C>T (p.Val851=)
c.2340C>T (p.Val780=)
11g.121558793A=CA2004919369SORL1c.2866A= (p.Ile956=)
n.572A=
c.1327A= (p.Ile443=)
c.226A= (p.Ile76=)
c.2554A= (p.Ile852=)
c.2341A= (p.Ile781=)
11g.121558793A>CCA383036111SORL1c.2866A>C (p.Ile956Leu)
n.572A>C
c.1327A>C (p.Ile443Leu)
c.226A>C (p.Ile76Leu)
c.2554A>C (p.Ile852Leu)
c.2341A>C (p.Ile781Leu)
 dbSNP gnomAD v2
11g.121558793A>GCA6329072SORL1c.2866A>G (p.Ile956Val)
n.572A>G
c.1327A>G (p.Ile443Val)
c.226A>G (p.Ile76Val)
c.2554A>G (p.Ile852Val)
c.2341A>G (p.Ile781Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.121558793A>TCA383036112SORL1c.2866A>T (p.Ile956Phe)
n.572A>T
c.1327A>T (p.Ile443Phe)
c.226A>T (p.Ile76Phe)
c.2554A>T (p.Ile852Phe)
c.2341A>T (p.Ile781Phe)
11g.121558794T>ACA383036113SORL1c.2867T>A (p.Ile956Asn)
n.573T>A
c.1328T>A (p.Ile443Asn)
c.227T>A (p.Ile76Asn)
c.2555T>A (p.Ile852Asn)
c.2342T>A (p.Ile781Asn)
11g.121558794T>CCA383036114SORL1c.2867T>C (p.Ile956Thr)
n.573T>C
c.1328T>C (p.Ile443Thr)
c.227T>C (p.Ile76Thr)
c.2555T>C (p.Ile852Thr)
c.2342T>C (p.Ile781Thr)
11g.121558794T>GCA383036115SORL1c.2867T>G (p.Ile956Ser)
n.573T>G
c.1328T>G (p.Ile443Ser)
c.227T>G (p.Ile76Ser)
c.2555T>G (p.Ile852Ser)
c.2342T>G (p.Ile781Ser)
11g.121558795T>ACA477218982SORL1c.2868T>A (p.Ile956=)
n.574T>A
c.1329T>A (p.Ile443=)
c.228T>A (p.Ile76=)
c.2556T>A (p.Ile852=)
c.2343T>A (p.Ile781=)
11g.121558795T>CCA477218981SORL1c.2868T>C (p.Ile956=)
n.574T>C
c.1329T>C (p.Ile443=)
c.228T>C (p.Ile76=)
c.2556T>C (p.Ile852=)
c.2343T>C (p.Ile781=)
11g.121558795T>GCA383036116SORL1c.2868T>G (p.Ile956Met)
n.574T>G
c.1329T>G (p.Ile443Met)
c.228T>G (p.Ile76Met)
c.2556T>G (p.Ile852Met)
c.2343T>G (p.Ile781Met)
11g.121558796C>ACA383036117SORL1c.2869C>A (p.Leu957Met)
n.575C>A
c.1330C>A (p.Leu444Met)
c.229C>A (p.Leu77Met)
c.2557C>A (p.Leu853Met)
c.2344C>A (p.Leu782Met)
11g.121558796C>GCA383036118SORL1c.2869C>G (p.Leu957Val)
n.575C>G
c.1330C>G (p.Leu444Val)
c.229C>G (p.Leu77Val)
c.2557C>G (p.Leu853Val)
c.2344C>G (p.Leu782Val)
 gnomAD v4
11g.121558796C>TCA477218983SORL1c.2869C>T (p.Leu957=)
n.575C>T
c.1330C>T (p.Leu444=)
c.229C>T (p.Leu77=)
c.2557C>T (p.Leu853=)
c.2344C>T (p.Leu782=)
 gnomAD v4
11g.121558797T>ACA383036119SORL1c.2870T>A (p.Leu957Gln)
n.576T>A
c.1331T>A (p.Leu444Gln)
c.230T>A (p.Leu77Gln)
c.2558T>A (p.Leu853Gln)
c.2345T>A (p.Leu782Gln)
11g.121558797T>CCA383036120SORL1c.2870T>C (p.Leu957Pro)
n.576T>C
c.1331T>C (p.Leu444Pro)
c.230T>C (p.Leu77Pro)
c.2558T>C (p.Leu853Pro)
c.2345T>C (p.Leu782Pro)
 dbSNP gnomAD v4
11g.121558797T>GCA383036121SORL1c.2870T>G (p.Leu957Arg)
n.576T>G
c.1331T>G (p.Leu444Arg)
c.230T>G (p.Leu77Arg)
c.2558T>G (p.Leu853Arg)
c.2345T>G (p.Leu782Arg)
11g.121558797T=CA2004919370SORL1c.2870T= (p.Leu957=)
n.576T=
c.1331T= (p.Leu444=)
c.230T= (p.Leu77=)
c.2558T= (p.Leu853=)
c.2345T= (p.Leu782=)
11g.121558798G>ACA477218984SORL1c.2871G>A (p.Leu957=)
n.577G>A
c.1332G>A (p.Leu444=)
c.231G>A (p.Leu77=)
c.2559G>A (p.Leu853=)
c.2346G>A (p.Leu782=)
11g.121558798G>CCA477218985SORL1c.2871G>C (p.Leu957=)
n.577G>C
c.1332G>C (p.Leu444=)
c.231G>C (p.Leu77=)
c.2559G>C (p.Leu853=)
c.2346G>C (p.Leu782=)
11g.121558798G>TCA477218986SORL1c.2871G>T (p.Leu957=)
n.577G>T
c.1332G>T (p.Leu444=)
c.231G>T (p.Leu77=)
c.2559G>T (p.Leu853=)
c.2346G>T (p.Leu782=)
11g.121558799G>ACA383036122SORL1c.2872G>A (p.Asp958Asn)
n.578G>A
c.1333G>A (p.Asp445Asn)
c.232G>A (p.Asp78Asn)
c.2560G>A (p.Asp854Asn)
c.2347G>A (p.Asp783Asn)
11g.121558799G>CCA6329073SORL1c.2872G>C (p.Asp958His)
n.578G>C
c.1333G>C (p.Asp445His)
c.232G>C (p.Asp78His)
c.2560G>C (p.Asp854His)
c.2347G>C (p.Asp783His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121558799G=CA2004919371SORL1c.2872G= (p.Asp958=)
n.578G=
c.1333G= (p.Asp445=)
c.232G= (p.Asp78=)
c.2560G= (p.Asp854=)
c.2347G= (p.Asp783=)
11g.121558799G>TCA383036123SORL1c.2872G>T (p.Asp958Tyr)
n.578G>T
c.1333G>T (p.Asp445Tyr)
c.232G>T (p.Asp78Tyr)
c.2560G>T (p.Asp854Tyr)
c.2347G>T (p.Asp783Tyr)
11g.121558800A>CCA383036124SORL1c.2873A>C (p.Asp958Ala)
n.579A>C
c.1334A>C (p.Asp445Ala)
c.233A>C (p.Asp78Ala)
c.2561A>C (p.Asp854Ala)
c.2348A>C (p.Asp783Ala)
11g.121558800A>GCA383036126SORL1c.2873A>G (p.Asp958Gly)
n.579A>G
c.1334A>G (p.Asp445Gly)
c.233A>G (p.Asp78Gly)
c.2561A>G (p.Asp854Gly)
c.2348A>G (p.Asp783Gly)
11g.121558800A>TCA383036125SORL1c.2873A>T (p.Asp958Val)
n.579A>T
c.1334A>T (p.Asp445Val)
c.233A>T (p.Asp78Val)
c.2561A>T (p.Asp854Val)
c.2348A>T (p.Asp783Val)
11g.121558801C>ACA383036127SORL1c.2874C>A (p.Asp958Glu)
n.580C>A
c.1335C>A (p.Asp445Glu)
c.234C>A (p.Asp78Glu)
c.2562C>A (p.Asp854Glu)
c.2349C>A (p.Asp783Glu)
11g.121558801C>GCA383036128SORL1c.2874C>G (p.Asp958Glu)
n.580C>G
c.1335C>G (p.Asp445Glu)
c.234C>G (p.Asp78Glu)
c.2562C>G (p.Asp854Glu)
c.2349C>G (p.Asp783Glu)
11g.121558801C>TCA477218987SORL1c.2874C>T (p.Asp958=)
n.580C>T
c.1335C>T (p.Asp445=)
c.234C>T (p.Asp78=)
c.2562C>T (p.Asp854=)
c.2349C>T (p.Asp783=)
11g.121558802A>CCA383036129SORL1c.2875A>C (p.Asn959His)
n.581A>C
c.1336A>C (p.Asn446His)
c.235A>C (p.Asn79His)
c.2563A>C (p.Asn855His)
c.2350A>C (p.Asn784His)
11g.121558802A>GCA383036130SORL1c.2875A>G (p.Asn959Asp)
n.581A>G
c.1336A>G (p.Asn446Asp)
c.235A>G (p.Asn79Asp)
c.2563A>G (p.Asn855Asp)
c.2350A>G (p.Asn784Asp)
 gnomAD v4
11g.121558802A>TCA383036131SORL1c.2875A>T (p.Asn959Tyr)
n.581A>T
c.1336A>T (p.Asn446Tyr)
c.235A>T (p.Asn79Tyr)
c.2563A>T (p.Asn855Tyr)
c.2350A>T (p.Asn784Tyr)
11g.121558803A>CCA383036132SORL1c.2876A>C (p.Asn959Thr)
n.582A>C
c.1337A>C (p.Asn446Thr)
c.236A>C (p.Asn79Thr)
c.2564A>C (p.Asn855Thr)
c.2351A>C (p.Asn784Thr)
11g.121558803A>GCA383036133SORL1c.2876A>G (p.Asn959Ser)
n.582A>G
c.1337A>G (p.Asn446Ser)
c.236A>G (p.Asn79Ser)
c.2564A>G (p.Asn855Ser)
c.2351A>G (p.Asn784Ser)
 gnomAD v4
11g.121558803A>TCA383036134SORL1c.2876A>T (p.Asn959Ile)
n.582A>T
c.1337A>T (p.Asn446Ile)
c.236A>T (p.Asn79Ile)
c.2564A>T (p.Asn855Ile)
c.2351A>T (p.Asn784Ile)
11g.121558804C>ACA383036135SORL1c.2877C>A (p.Asn959Lys)
n.583C>A
c.1338C>A (p.Asn446Lys)
c.237C>A (p.Asn79Lys)
c.2565C>A (p.Asn855Lys)
c.2352C>A (p.Asn784Lys)
 gnomAD v4
11g.121558804C=CA2004919372SORL1c.2877C= (p.Asn959=)
n.583C=
c.1338C= (p.Asn446=)
c.237C= (p.Asn79=)
c.2565C= (p.Asn855=)
c.2352C= (p.Asn784=)
11g.121558804C>GCA383036136SORL1c.2877C>G (p.Asn959Lys)
n.583C>G
c.1338C>G (p.Asn446Lys)
c.237C>G (p.Asn79Lys)
c.2565C>G (p.Asn855Lys)
c.2352C>G (p.Asn784Lys)
11g.121558804C>TCA477218988SORL1c.2877C>T (p.Asn959=)
n.583C>T
c.1338C>T (p.Asn446=)
c.237C>T (p.Asn79=)
c.2565C>T (p.Asn855=)
c.2352C>T (p.Asn784=)
 dbSNP gnomAD v4
11g.121558805C>ACA383036137SORL1c.2878C>A (p.Leu960Ile)
n.584C>A
c.1339C>A (p.Leu447Ile)
c.238C>A (p.Leu80Ile)
c.2566C>A (p.Leu856Ile)
c.2353C>A (p.Leu785Ile)
11g.121558805C=CA2004919373SORL1c.2878C= (p.Leu960=)
n.584C=
c.1339C= (p.Leu447=)
c.238C= (p.Leu80=)
c.2566C= (p.Leu856=)
c.2353C= (p.Leu785=)
11g.121558805C>GCA383036138SORL1c.2878C>G (p.Leu960Val)
n.584C>G
c.1339C>G (p.Leu447Val)
c.238C>G (p.Leu80Val)
c.2566C>G (p.Leu856Val)
c.2353C>G (p.Leu785Val)
 ClinVar dbSNP
11g.121558805C>TCA6329074SORL1c.2878C>T (p.Leu960Phe)
n.584C>T
c.1339C>T (p.Leu447Phe)
c.238C>T (p.Leu80Phe)
c.2566C>T (p.Leu856Phe)
c.2353C>T (p.Leu785Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121558806T>ACA383036139SORL1c.2879T>A (p.Leu960His)
n.585T>A
c.1340T>A (p.Leu447His)
c.239T>A (p.Leu80His)
c.2567T>A (p.Leu856His)
c.2354T>A (p.Leu785His)
11g.121558806T>CCA383036141SORL1c.2879T>C (p.Leu960Pro)
n.585T>C
c.1340T>C (p.Leu447Pro)
c.239T>C (p.Leu80Pro)
c.2567T>C (p.Leu856Pro)
c.2354T>C (p.Leu785Pro)
11g.121558806T>GCA383036140SORL1c.2879T>G (p.Leu960Arg)
n.585T>G
c.1340T>G (p.Leu447Arg)
c.239T>G (p.Leu80Arg)
c.2567T>G (p.Leu856Arg)
c.2354T>G (p.Leu785Arg)
11g.121558807C>ACA477218989SORL1c.2880C>A (p.Leu960=)
n.586C>A
c.1341C>A (p.Leu447=)
c.240C>A (p.Leu80=)
c.2568C>A (p.Leu856=)
c.2355C>A (p.Leu785=)
11g.121558807C>GCA477218990SORL1c.2880C>G (p.Leu960=)
n.586C>G
c.1341C>G (p.Leu447=)
c.240C>G (p.Leu80=)
c.2568C>G (p.Leu856=)
c.2355C>G (p.Leu785=)
11g.121558807C>TCA477218991SORL1c.2880C>T (p.Leu960=)
n.586C>T
c.1341C>T (p.Leu447=)
c.240C>T (p.Leu80=)
c.2568C>T (p.Leu856=)
c.2355C>T (p.Leu785=)
11g.121558808C>ACA383036142SORL1c.2881C>A (p.Pro961Thr)
n.587C>A
c.1342C>A (p.Pro448Thr)
c.241C>A (p.Pro81Thr)
c.2569C>A (p.Pro857Thr)
c.2356C>A (p.Pro786Thr)
11g.121558808C>GCA383036143SORL1c.2881C>G (p.Pro961Ala)
n.587C>G
c.1342C>G (p.Pro448Ala)
c.241C>G (p.Pro81Ala)
c.2569C>G (p.Pro857Ala)
c.2356C>G (p.Pro786Ala)
11g.121558808C>TCA383036144SORL1c.2881C>T (p.Pro961Ser)
n.587C>T
c.1342C>T (p.Pro448Ser)
c.241C>T (p.Pro81Ser)
c.2569C>T (p.Pro857Ser)
c.2356C>T (p.Pro786Ser)
11g.121558809C>ACA383036145SORL1c.2882C>A (p.Pro961Gln)
n.588C>A
c.1343C>A (p.Pro448Gln)
c.242C>A (p.Pro81Gln)
c.2570C>A (p.Pro857Gln)
c.2357C>A (p.Pro786Gln)
11g.121558809C=CA2004919374SORL1c.2882C= (p.Pro961=)
n.588C=
c.1343C= (p.Pro448=)
c.242C= (p.Pro81=)
c.2570C= (p.Pro857=)
c.2357C= (p.Pro786=)
11g.121558809C>GCA383036146SORL1c.2882C>G (p.Pro961Arg)
n.588C>G
c.1343C>G (p.Pro448Arg)
c.242C>G (p.Pro81Arg)
c.2570C>G (p.Pro857Arg)
c.2357C>G (p.Pro786Arg)
11g.121558809C>TCA6329075SORL1c.2882C>T (p.Pro961Leu)
n.588C>T
c.1343C>T (p.Pro448Leu)
c.242C>T (p.Pro81Leu)
c.2570C>T (p.Pro857Leu)
c.2357C>T (p.Pro786Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121558810_121558813delCA2695215685SORL1c.2883_2886del (p.His962ProfsTer?)
n.589_592del
c.1344_1347del (p.His449ProfsTer?)
c.243_246del (p.His82ProfsTer?)
c.2571_2574del (p.His858ProfsTer?)
c.2358_2361del (p.His787ProfsTer?)
11g.121558810G>ACA477218992SORL1c.2883G>A (p.Pro961=)
n.589G>A
c.1344G>A (p.Pro448=)
c.243G>A (p.Pro81=)
c.2571G>A (p.Pro857=)
c.2358G>A (p.Pro786=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.121558810G>CCA477218993SORL1c.2883G>C (p.Pro961=)
n.589G>C
c.1344G>C (p.Pro448=)
c.243G>C (p.Pro81=)
c.2571G>C (p.Pro857=)
c.2358G>C (p.Pro786=)
11g.121558810G=CA2004919375SORL1c.2883G= (p.Pro961=)
n.589G=
c.1344G= (p.Pro448=)
c.243G= (p.Pro81=)
c.2571G= (p.Pro857=)
c.2358G= (p.Pro786=)
11g.121558810G>TCA6329076SORL1c.2883G>T (p.Pro961=)
n.589G>T
c.1344G>T (p.Pro448=)
c.243G>T (p.Pro81=)
c.2571G>T (p.Pro857=)
c.2358G>T (p.Pro786=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121558811C>ACA383036147SORL1c.2884C>A (p.His962Asn)
n.590C>A
c.1345C>A (p.His449Asn)
c.244C>A (p.His82Asn)
c.2572C>A (p.His858Asn)
c.2359C>A (p.His787Asn)
11g.121558811C=CA2004919376SORL1c.2884C= (p.His962=)
n.590C=
c.1345C= (p.His449=)
c.244C= (p.His82=)
c.2572C= (p.His858=)
c.2359C= (p.His787=)
11g.121558811C>GCA6329077SORL1c.2884C>G (p.His962Asp)
n.590C>G
c.1345C>G (p.His449Asp)
c.244C>G (p.His82Asp)
c.2572C>G (p.His858Asp)
c.2359C>G (p.His787Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121558811C>TCA383036148SORL1c.2884C>T (p.His962Tyr)
n.590C>T
c.1345C>T (p.His449Tyr)
c.244C>T (p.His82Tyr)
c.2572C>T (p.His858Tyr)
c.2359C>T (p.His787Tyr)
11g.121558812A>CCA383036149SORL1c.2885A>C (p.His962Pro)
n.591A>C
c.1346A>C (p.His449Pro)
c.245A>C (p.His82Pro)
c.2573A>C (p.His858Pro)
c.2360A>C (p.His787Pro)
11g.121558812A>GCA383036151SORL1c.2885A>G (p.His962Arg)
n.591A>G
c.1346A>G (p.His449Arg)
c.245A>G (p.His82Arg)
c.2573A>G (p.His858Arg)
c.2360A>G (p.His787Arg)
 gnomAD v4
11g.121558812A>TCA383036150SORL1c.2885A>T (p.His962Leu)
n.591A>T
c.1346A>T (p.His449Leu)
c.245A>T (p.His82Leu)
c.2573A>T (p.His858Leu)
c.2360A>T (p.His787Leu)
11g.121558813C>ACA383036152SORL1c.2886C>A (p.His962Gln)
n.592C>A
c.1347C>A (p.His449Gln)
c.246C>A (p.His82Gln)
c.2574C>A (p.His858Gln)
c.2361C>A (p.His787Gln)
 gnomAD v4
11g.121558813C=CA2004919377SORL1c.2886C= (p.His962=)
n.592C=
c.1347C= (p.His449=)
c.246C= (p.His82=)
c.2574C= (p.His858=)
c.2361C= (p.His787=)
11g.121558813C>GCA383036153SORL1c.2886C>G (p.His962Gln)
n.592C>G
c.1347C>G (p.His449Gln)
c.246C>G (p.His82Gln)
c.2574C>G (p.His858Gln)
c.2361C>G (p.His787Gln)
11g.121558813C>TCA477218994SORL1c.2886C>T (p.His962=)
n.592C>T
c.1347C>T (p.His449=)
c.246C>T (p.His82=)
c.2574C>T (p.His858=)
c.2361C>T (p.His787=)
 dbSNP gnomAD v4
11g.121558814C>ACA383036154SORL1c.2887C>A (p.Pro963Thr)
n.593C>A
c.1348C>A (p.Pro450Thr)
c.247C>A (p.Pro83Thr)
c.2575C>A (p.Pro859Thr)
c.2362C>A (p.Pro788Thr)
11g.121558814C>GCA383036155SORL1c.2887C>G (p.Pro963Ala)
n.593C>G
c.1348C>G (p.Pro450Ala)
c.247C>G (p.Pro83Ala)
c.2575C>G (p.Pro859Ala)
c.2362C>G (p.Pro788Ala)
11g.121558814C>TCA383036156SORL1c.2887C>T (p.Pro963Ser)
n.593C>T
c.1348C>T (p.Pro450Ser)
c.247C>T (p.Pro83Ser)
c.2575C>T (p.Pro859Ser)
c.2362C>T (p.Pro788Ser)
11g.121558815C>ACA383036159SORL1c.2888C>A (p.Pro963His)
n.594C>A
c.1349C>A (p.Pro450His)
c.248C>A (p.Pro83His)
c.2576C>A (p.Pro859His)
c.2363C>A (p.Pro788His)
11g.121558815C>GCA383036158SORL1c.2888C>G (p.Pro963Arg)
n.594C>G
c.1349C>G (p.Pro450Arg)
c.248C>G (p.Pro83Arg)
c.2576C>G (p.Pro859Arg)
c.2363C>G (p.Pro788Arg)
11g.121558815C>TCA383036157SORL1c.2888C>T (p.Pro963Leu)
n.594C>T
c.1349C>T (p.Pro450Leu)
c.248C>T (p.Pro83Leu)
c.2576C>T (p.Pro859Leu)
c.2363C>T (p.Pro788Leu)
11g.121558816C>ACA477218995SORL1c.2889C>A (p.Pro963=)
n.595C>A
c.1350C>A (p.Pro450=)
c.249C>A (p.Pro83=)
c.2577C>A (p.Pro859=)
c.2364C>A (p.Pro788=)
11g.121558816C>GCA477218996SORL1c.2889C>G (p.Pro963=)
n.595C>G
c.1350C>G (p.Pro450=)
c.249C>G (p.Pro83=)
c.2577C>G (p.Pro859=)
c.2364C>G (p.Pro788=)
11g.121558816C>TCA477218997SORL1c.2889C>T (p.Pro963=)
n.595C>T
c.1350C>T (p.Pro450=)
c.249C>T (p.Pro83=)
c.2577C>T (p.Pro859=)
c.2364C>T (p.Pro788=)
11g.121558817T>ACA383036160SORL1c.2890T>A (p.Tyr964Asn)
n.596T>A
c.1351T>A (p.Tyr451Asn)
c.250T>A (p.Tyr84Asn)
c.2578T>A (p.Tyr860Asn)
c.2365T>A (p.Tyr789Asn)
11g.121558817T>CCA383036161SORL1c.2890T>C (p.Tyr964His)
n.596T>C
c.1351T>C (p.Tyr451His)
c.250T>C (p.Tyr84His)
c.2578T>C (p.Tyr860His)
c.2365T>C (p.Tyr789His)
11g.121558817T>GCA383036162SORL1c.2890T>G (p.Tyr964Asp)
n.596T>G
c.1351T>G (p.Tyr451Asp)
c.250T>G (p.Tyr84Asp)
c.2578T>G (p.Tyr860Asp)
c.2365T>G (p.Tyr789Asp)
11g.121558818A=CA2004919378SORL1c.2891A= (p.Tyr964=)
n.597A=
c.1352A= (p.Tyr451=)
c.251A= (p.Tyr84=)
c.2579A= (p.Tyr860=)
c.2366A= (p.Tyr789=)
11g.121558818A>CCA383036163SORL1c.2891A>C (p.Tyr964Ser)
n.597A>C
c.1352A>C (p.Tyr451Ser)
c.251A>C (p.Tyr84Ser)
c.2579A>C (p.Tyr860Ser)
c.2366A>C (p.Tyr789Ser)
11g.121558818A>GCA383036164SORL1c.2891A>G (p.Tyr964Cys)
n.597A>G
c.1352A>G (p.Tyr451Cys)
c.251A>G (p.Tyr84Cys)
c.2579A>G (p.Tyr860Cys)
c.2366A>G (p.Tyr789Cys)
 dbSNP gnomAD v4
11g.121558818A>TCA229902992SORL1c.2891A>T (p.Tyr964Phe)
n.597A>T
c.1352A>T (p.Tyr451Phe)
c.251A>T (p.Tyr84Phe)
c.2579A>T (p.Tyr860Phe)
c.2366A>T (p.Tyr789Phe)
 dbSNP gnomAD v4
11g.121558819T>ACA383036166SORL1c.2892T>A (p.Tyr964Ter)
n.598T>A
c.1353T>A (p.Tyr451Ter)
c.252T>A (p.Tyr84Ter)
c.2580T>A (p.Tyr860Ter)
c.2367T>A (p.Tyr789Ter)
11g.121558819T>CCA6329078SORL1c.2892T>C (p.Tyr964=)
n.598T>C
c.1353T>C (p.Tyr451=)
c.252T>C (p.Tyr84=)
c.2580T>C (p.Tyr860=)
c.2367T>C (p.Tyr789=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121558819T>GCA383036165SORL1c.2892T>G (p.Tyr964Ter)
n.598T>G
c.1353T>G (p.Tyr451Ter)
c.252T>G (p.Tyr84Ter)
c.2580T>G (p.Tyr860Ter)
c.2367T>G (p.Tyr789Ter)
11g.121558819T=CA2004919379SORL1c.2892T= (p.Tyr964=)
n.598T=
c.1353T= (p.Tyr451=)
c.252T= (p.Tyr84=)
c.2580T= (p.Tyr860=)
c.2367T= (p.Tyr789=)
11g.121558820G>ACA383036167SORL1c.2893G>A (p.Ala965Thr)
n.599G>A
c.1354G>A (p.Ala452Thr)
c.253G>A (p.Ala85Thr)
c.2581G>A (p.Ala861Thr)
c.2368G>A (p.Ala790Thr)
11g.121558820G>CCA383036168SORL1c.2893G>C (p.Ala965Pro)
n.599G>C
c.1354G>C (p.Ala452Pro)
c.253G>C (p.Ala85Pro)
c.2581G>C (p.Ala861Pro)
c.2368G>C (p.Ala790Pro)
11g.121558820G>TCA383036169SORL1c.2893G>T (p.Ala965Ser)
n.599G>T
c.1354G>T (p.Ala452Ser)
c.253G>T (p.Ala85Ser)
c.2581G>T (p.Ala861Ser)
c.2368G>T (p.Ala790Ser)
11g.121558821C>ACA383036170SORL1c.2894C>A (p.Ala965Asp)
n.600C>A
c.1355C>A (p.Ala452Asp)
c.254C>A (p.Ala85Asp)
c.2582C>A (p.Ala861Asp)
c.2369C>A (p.Ala790Asp)
11g.121558821C>GCA383036171SORL1c.2894C>G (p.Ala965Gly)
n.600C>G
c.1355C>G (p.Ala452Gly)
c.254C>G (p.Ala85Gly)
c.2582C>G (p.Ala861Gly)
c.2369C>G (p.Ala790Gly)
11g.121558821C>TCA383036172SORL1c.2894C>T (p.Ala965Val)
n.600C>T
c.1355C>T (p.Ala452Val)
c.254C>T (p.Ala85Val)
c.2582C>T (p.Ala861Val)
c.2369C>T (p.Ala790Val)
 gnomAD v4
11g.121558822C>ACA477218998SORL1c.2895C>A (p.Ala965=)
n.601C>A
c.1356C>A (p.Ala452=)
c.255C>A (p.Ala85=)
c.2583C>A (p.Ala861=)
c.2370C>A (p.Ala790=)
11g.121558822C=CA2004919380SORL1c.2895C= (p.Ala965=)
n.601C=
c.1356C= (p.Ala452=)
c.255C= (p.Ala85=)
c.2583C= (p.Ala861=)
c.2370C= (p.Ala790=)
11g.121558822C>GCA477219000SORL1c.2895C>G (p.Ala965=)
n.601C>G
c.1356C>G (p.Ala452=)
c.255C>G (p.Ala85=)
c.2583C>G (p.Ala861=)
c.2370C>G (p.Ala790=)
 dbSNP gnomAD v2 gnomAD v4
11g.121558822C>TCA477218999SORL1c.2895C>T (p.Ala965=)
n.601C>T
c.1356C>T (p.Ala452=)
c.255C>T (p.Ala85=)
c.2583C>T (p.Ala861=)
c.2370C>T (p.Ala790=)
 gnomAD v4
11g.121558823A=CA2004919381SORL1c.2896A= (p.Ile966=)
n.602A=
c.1357A= (p.Ile453=)
c.256A= (p.Ile86=)
c.2584A= (p.Ile862=)
c.2371A= (p.Ile791=)
11g.121558823A>CCA383036173SORL1c.2896A>C (p.Ile966Leu)
n.602A>C
c.1357A>C (p.Ile453Leu)
c.256A>C (p.Ile86Leu)
c.2584A>C (p.Ile862Leu)
c.2371A>C (p.Ile791Leu)
 gnomAD v4
11g.121558823A>GCA383036174SORL1c.2896A>G (p.Ile966Val)
n.602A>G
c.1357A>G (p.Ile453Val)
c.256A>G (p.Ile86Val)
c.2584A>G (p.Ile862Val)
c.2371A>G (p.Ile791Val)
 dbSNP gnomAD v3 gnomAD v4
11g.121558823A>TCA383036175SORL1c.2896A>T (p.Ile966Phe)
n.602A>T
c.1357A>T (p.Ile453Phe)
c.256A>T (p.Ile86Phe)
c.2584A>T (p.Ile862Phe)
c.2371A>T (p.Ile791Phe)
11g.121558824T>ACA383036176SORL1c.2897T>A (p.Ile966Asn)
n.603T>A
c.1358T>A (p.Ile453Asn)
c.257T>A (p.Ile86Asn)
c.2585T>A (p.Ile862Asn)
c.2372T>A (p.Ile791Asn)
11g.121558824T>CCA383036177SORL1c.2897T>C (p.Ile966Thr)
n.603T>C
c.1358T>C (p.Ile453Thr)
c.257T>C (p.Ile86Thr)
c.2585T>C (p.Ile862Thr)
c.2372T>C (p.Ile791Thr)
 dbSNP gnomAD v2 gnomAD v4
11g.121558824T>GCA383036178SORL1c.2897T>G (p.Ile966Ser)
n.603T>G
c.1358T>G (p.Ile453Ser)
c.257T>G (p.Ile86Ser)
c.2585T>G (p.Ile862Ser)
c.2372T>G (p.Ile791Ser)
11g.121558824T=CA2004919382SORL1c.2897T= (p.Ile966=)
n.603T=
c.1358T= (p.Ile453=)
c.257T= (p.Ile86=)
c.2585T= (p.Ile862=)
c.2372T= (p.Ile791=)
11g.121558825T>ACA477219001SORL1c.2898T>A (p.Ile966=)
n.604T>A
c.1359T>A (p.Ile453=)
c.258T>A (p.Ile86=)
c.2586T>A (p.Ile862=)
c.2373T>A (p.Ile791=)
11g.121558825T>CCA477219002SORL1c.2898T>C (p.Ile966=)
n.604T>C
c.1359T>C (p.Ile453=)
c.258T>C (p.Ile86=)
c.2586T>C (p.Ile862=)
c.2373T>C (p.Ile791=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121558825T>GCA383036179SORL1c.2898T>G (p.Ile966Met)
n.604T>G
c.1359T>G (p.Ile453Met)
c.258T>G (p.Ile86Met)
c.2586T>G (p.Ile862Met)
c.2373T>G (p.Ile791Met)
 dbSNP gnomAD v3 gnomAD v4
11g.121558825T=CA2004919383SORL1c.2898T= (p.Ile966=)
n.604T=
c.1359T= (p.Ile453=)
c.258T= (p.Ile86=)
c.2586T= (p.Ile862=)
c.2373T= (p.Ile791=)
11g.121558826G>ACA383036182SORL1c.2899G>A (p.Ala967Thr)
n.605G>A
c.1360G>A (p.Ala454Thr)
c.259G>A (p.Ala87Thr)
c.2587G>A (p.Ala863Thr)
c.2374G>A (p.Ala792Thr)
11g.121558826G>CCA383036180SORL1c.2899G>C (p.Ala967Pro)
n.605G>C
c.1360G>C (p.Ala454Pro)
c.259G>C (p.Ala87Pro)
c.2587G>C (p.Ala863Pro)
c.2374G>C (p.Ala792Pro)
11g.121558826G>TCA383036181SORL1c.2899G>T (p.Ala967Ser)
n.605G>T
c.1360G>T (p.Ala454Ser)
c.259G>T (p.Ala87Ser)
c.2587G>T (p.Ala863Ser)
c.2374G>T (p.Ala792Ser)
11g.121558827C>ACA383036183SORL1c.2900C>A (p.Ala967Asp)
n.606C>A
c.1361C>A (p.Ala454Asp)
c.260C>A (p.Ala87Asp)
c.2588C>A (p.Ala863Asp)
c.2375C>A (p.Ala792Asp)
11g.121558827C>GCA383036184SORL1c.2900C>G (p.Ala967Gly)
n.606C>G
c.1361C>G (p.Ala454Gly)
c.260C>G (p.Ala87Gly)
c.2588C>G (p.Ala863Gly)
c.2375C>G (p.Ala792Gly)
11g.121558827C>TCA383036185SORL1c.2900C>T (p.Ala967Val)
n.606C>T
c.1361C>T (p.Ala454Val)
c.260C>T (p.Ala87Val)
c.2588C>T (p.Ala863Val)
c.2375C>T (p.Ala792Val)
11g.121558828T>ACA6329079SORL1c.2901T>A (p.Ala967=)
n.607T>A
c.1362T>A (p.Ala454=)
c.261T>A (p.Ala87=)
c.2589T>A (p.Ala863=)
c.2376T>A (p.Ala792=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121558828T>CCA477219003SORL1c.2901T>C (p.Ala967=)
n.607T>C
c.1362T>C (p.Ala454=)
c.261T>C (p.Ala87=)
c.2589T>C (p.Ala863=)
c.2376T>C (p.Ala792=)
11g.121558828T>GCA477219004SORL1c.2901T>G (p.Ala967=)
n.607T>G
c.1362T>G (p.Ala454=)
c.261T>G (p.Ala87=)
c.2589T>G (p.Ala863=)
c.2376T>G (p.Ala792=)
11g.121558828T=CA2004919384SORL1c.2901T= (p.Ala967=)
n.607T=
c.1362T= (p.Ala454=)
c.261T= (p.Ala87=)
c.2589T= (p.Ala863=)
c.2376T= (p.Ala792=)
11g.121558829G>ACA6329080SORL1c.2902G>A (p.Val968Ile)
n.608G>A
c.1363G>A (p.Val455Ile)
c.262G>A (p.Val88Ile)
c.2590G>A (p.Val864Ile)
c.2377G>A (p.Val793Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121558829G>CCA383036186SORL1c.2902G>C (p.Val968Leu)
n.608G>C
c.1363G>C (p.Val455Leu)
c.262G>C (p.Val88Leu)
c.2590G>C (p.Val864Leu)
c.2377G>C (p.Val793Leu)
11g.121558829G=CA2004919385SORL1c.2902G= (p.Val968=)
n.608G=
c.1363G= (p.Val455=)
c.262G= (p.Val88=)
c.2590G= (p.Val864=)
c.2377G= (p.Val793=)
11g.121558829G>TCA383036187SORL1c.2902G>T (p.Val968Phe)
n.608G>T
c.1363G>T (p.Val455Phe)
c.262G>T (p.Val88Phe)
c.2590G>T (p.Val864Phe)
c.2377G>T (p.Val793Phe)
11g.121558830T>ACA383036188SORL1c.2903T>A (p.Val968Asp)
n.609T>A
c.1364T>A (p.Val455Asp)
c.263T>A (p.Val88Asp)
c.2591T>A (p.Val864Asp)
c.2378T>A (p.Val793Asp)
 gnomAD v4
11g.121558830T>CCA383036189SORL1c.2903T>C (p.Val968Ala)
n.609T>C
c.1364T>C (p.Val455Ala)
c.263T>C (p.Val88Ala)
c.2591T>C (p.Val864Ala)
c.2378T>C (p.Val793Ala)
11g.121558830T>GCA383036190SORL1c.2903T>G (p.Val968Gly)
n.609T>G
c.1364T>G (p.Val455Gly)
c.263T>G (p.Val88Gly)
c.2591T>G (p.Val864Gly)
c.2378T>G (p.Val793Gly)
11g.121558831C>ACA477219005SORL1c.2904C>A (p.Val968=)
n.610C>A
c.1365C>A (p.Val455=)
c.264C>A (p.Val88=)
c.2592C>A (p.Val864=)
c.2379C>A (p.Val793=)
11g.121558831C>GCA477219006SORL1c.2904C>G (p.Val968=)
n.610C>G
c.1365C>G (p.Val455=)
c.264C>G (p.Val88=)
c.2592C>G (p.Val864=)
c.2379C>G (p.Val793=)
11g.121558831C>TCA477219007SORL1c.2904C>T (p.Val968=)
n.610C>T
c.1365C>T (p.Val455=)
c.264C>T (p.Val88=)
c.2592C>T (p.Val864=)
c.2379C>T (p.Val793=)
 ClinVar dbSNP
11g.121558832T>ACA383036191SORL1c.2905T>A (p.Phe969Ile)
n.611T>A
c.1366T>A (p.Phe456Ile)
c.265T>A (p.Phe89Ile)
c.2593T>A (p.Phe865Ile)
c.2380T>A (p.Phe794Ile)
11g.121558832T>CCA383036192SORL1c.2905T>C (p.Phe969Leu)
n.611T>C
c.1366T>C (p.Phe456Leu)
c.265T>C (p.Phe89Leu)
c.2593T>C (p.Phe865Leu)
c.2380T>C (p.Phe794Leu)
 dbSNP gnomAD v2 gnomAD v4
11g.121558832T>GCA383036193SORL1c.2905T>G (p.Phe969Val)
n.611T>G
c.1366T>G (p.Phe456Val)
c.265T>G (p.Phe89Val)
c.2593T>G (p.Phe865Val)
c.2380T>G (p.Phe794Val)
11g.121558832T=CA2004919386SORL1c.2905T= (p.Phe969=)
n.611T=
c.1366T= (p.Phe456=)
c.265T= (p.Phe89=)
c.2593T= (p.Phe865=)
c.2380T= (p.Phe794=)
11g.121558833T>ACA383036196SORL1c.2906T>A (p.Phe969Tyr)
n.612T>A
c.1367T>A (p.Phe456Tyr)
c.266T>A (p.Phe89Tyr)
c.2594T>A (p.Phe865Tyr)
c.2381T>A (p.Phe794Tyr)
11g.121558833T>CCA383036195SORL1c.2906T>C (p.Phe969Ser)
n.612T>C
c.1367T>C (p.Phe456Ser)
c.266T>C (p.Phe89Ser)
c.2594T>C (p.Phe865Ser)
c.2381T>C (p.Phe794Ser)
11g.121558833T>GCA383036194SORL1c.2906T>G (p.Phe969Cys)
n.612T>G
c.1367T>G (p.Phe456Cys)
c.266T>G (p.Phe89Cys)
c.2594T>G (p.Phe865Cys)
c.2381T>G (p.Phe794Cys)
11g.121558834T>ACA383036197SORL1c.2907T>A (p.Phe969Leu)
n.613T>A
c.1368T>A (p.Phe456Leu)
c.267T>A (p.Phe89Leu)
c.2595T>A (p.Phe865Leu)
c.2382T>A (p.Phe794Leu)
11g.121558834T>CCA477219008SORL1c.2907T>C (p.Phe969=)
n.613T>C
c.1368T>C (p.Phe456=)
c.267T>C (p.Phe89=)
c.2595T>C (p.Phe865=)
c.2382T>C (p.Phe794=)
11g.121558834T>GCA383036198SORL1c.2907T>G (p.Phe969Leu)
n.613T>G
c.1368T>G (p.Phe456Leu)
c.267T>G (p.Phe89Leu)
c.2595T>G (p.Phe865Leu)
c.2382T>G (p.Phe794Leu)
11g.121558835A>CCA383036199SORL1c.2908A>C (p.Lys970Gln)
n.614A>C
c.1369A>C (p.Lys457Gln)
c.268A>C (p.Lys90Gln)
c.2596A>C (p.Lys866Gln)
c.2383A>C (p.Lys795Gln)
11g.121558835A>GCA383036200SORL1c.2908A>G (p.Lys970Glu)
n.614A>G
c.1369A>G (p.Lys457Glu)
c.268A>G (p.Lys90Glu)
c.2596A>G (p.Lys866Glu)
c.2383A>G (p.Lys795Glu)
11g.121558835A>TCA383036201SORL1c.2908A>T (p.Lys970Ter)
n.614A>T
c.1369A>T (p.Lys457Ter)
c.268A>T (p.Lys90Ter)
c.2596A>T (p.Lys866Ter)
c.2383A>T (p.Lys795Ter)
11g.121558836A>CCA383036202SORL1c.2909A>C (p.Lys970Thr)
n.615A>C
c.1370A>C (p.Lys457Thr)
c.269A>C (p.Lys90Thr)
c.2597A>C (p.Lys866Thr)
c.2384A>C (p.Lys795Thr)
11g.121558836A>GCA383036203SORL1c.2909A>G (p.Lys970Arg)
n.615A>G
c.1370A>G (p.Lys457Arg)
c.269A>G (p.Lys90Arg)
c.2597A>G (p.Lys866Arg)
c.2384A>G (p.Lys795Arg)
11g.121558836A>TCA383036204SORL1c.2909A>T (p.Lys970Met)
n.615A>T
c.1370A>T (p.Lys457Met)
c.269A>T (p.Lys90Met)
c.2597A>T (p.Lys866Met)
c.2384A>T (p.Lys795Met)
11g.121558837G>ACA477219009SORL1c.2910G>A (p.Lys970=)
n.616G>A
c.1371G>A (p.Lys457=)
c.270G>A (p.Lys90=)
c.2598G>A (p.Lys866=)
c.2385G>A (p.Lys795=)
11g.121558837G>CCA383036205SORL1c.2910G>C (p.Lys970Asn)
n.616G>C
c.1371G>C (p.Lys457Asn)
c.270G>C (p.Lys90Asn)
c.2598G>C (p.Lys866Asn)
c.2385G>C (p.Lys795Asn)
11g.121558837G>TCA383036206SORL1c.2910G>T (p.Lys970Asn)
n.616G>T
c.1371G>T (p.Lys457Asn)
c.270G>T (p.Lys90Asn)
c.2598G>T (p.Lys866Asn)
c.2385G>T (p.Lys795Asn)
11g.121558838G>ACA383036207SORL1c.2910+1G>A (n.2910+1G>A)
c.1371+1G>A (n.1371+1G>A)
c.270+1G>A (n.270+1G>A)
c.2598+1G>A (n.2598+1G>A)
c.2385+1G>A (n.2385+1G>A)
11g.121558838G>CCA383036208SORL1c.2910+1G>C (n.2910+1G>C)
c.1371+1G>C (n.1371+1G>C)
c.270+1G>C (n.270+1G>C)
c.2598+1G>C (n.2598+1G>C)
c.2385+1G>C (n.2385+1G>C)
11g.121558838G>TCA383036209SORL1c.2910+1G>T (n.2910+1G>T)
c.1371+1G>T (n.1371+1G>T)
c.270+1G>T (n.270+1G>T)
c.2598+1G>T (n.2598+1G>T)
c.2385+1G>T (n.2385+1G>T)
11g.121558839delCA2616498004SORL1c.2910+2del (n.2910+2del)
c.1371+2del (n.1371+2del)
c.270+2del (n.270+2del)
c.2598+2del (n.2598+2del)
c.2385+2del (n.2385+2del)
 gnomAD v4
11g.121558839T>ACA383036212SORL1c.2910+2T>A (n.2910+2T>A)
c.1371+2T>A (n.1371+2T>A)
c.270+2T>A (n.270+2T>A)
c.2598+2T>A (n.2598+2T>A)
c.2385+2T>A (n.2385+2T>A)
11g.121558839T>CCA383036211SORL1c.2910+2T>C (n.2910+2T>C)
c.1371+2T>C (n.1371+2T>C)
c.270+2T>C (n.270+2T>C)
c.2598+2T>C (n.2598+2T>C)
c.2385+2T>C (n.2385+2T>C)
11g.121558839T>GCA383036210SORL1c.2910+2T>G (n.2910+2T>G)
c.1371+2T>G (n.1371+2T>G)
c.270+2T>G (n.270+2T>G)
c.2598+2T>G (n.2598+2T>G)
c.2385+2T>G (n.2385+2T>G)
11g.121558842G>CCA602230888SORL1c.2910+5G>C (n.2910+5G>C)
c.1371+5G>C (n.1371+5G>C)
c.270+5G>C (n.270+5G>C)
c.2598+5G>C (n.2598+5G>C)
c.2385+5G>C (n.2385+5G>C)
 dbSNP gnomAD v2 gnomAD v4
11g.121558842G=CA2004919387SORL1c.2910+5G= (n.2910+5G=)
c.1371+5G= (n.1371+5G=)
c.270+5G= (n.270+5G=)
c.2598+5G= (n.2598+5G=)
c.2385+5G= (n.2385+5G=)
11g.121558843T>GCA2616498005SORL1c.2910+6T>G (n.2910+6T>G)
c.1371+6T>G (n.1371+6T>G)
c.270+6T>G (n.270+6T>G)
c.2598+6T>G (n.2598+6T>G)
c.2385+6T>G (n.2385+6T>G)
 gnomAD v4
11g.121558845_121558846insTCA2616498006SORL1c.2910+8_2910+9insT (n.2910+8_2910+9insT)
c.1371+8_1371+9insT (n.1371+8_1371+9insT)
c.270+8_270+9insT (n.270+8_270+9insT)
c.2598+8_2598+9insT (n.2598+8_2598+9insT)
c.2385+8_2385+9insT (n.2385+8_2385+9insT)
 gnomAD v4
11g.121558846A=CA2004919388SORL1c.2910+9A= (n.2910+9A=)
c.1371+9A= (n.1371+9A=)
c.270+9A= (n.270+9A=)
c.2598+9A= (n.2598+9A=)
c.2385+9A= (n.2385+9A=)
11g.121558846A>GCA672586084SORL1c.2910+9A>G (n.2910+9A>G)
c.1371+9A>G (n.1371+9A>G)
c.270+9A>G (n.270+9A>G)
c.2598+9A>G (n.2598+9A>G)
c.2385+9A>G (n.2385+9A>G)
 dbSNP gnomAD v3 gnomAD v4
11g.121558848T>CCA672586092SORL1c.2910+11T>C (n.2910+11T>C)
c.1371+11T>C (n.1371+11T>C)
c.270+11T>C (n.270+11T>C)
c.2598+11T>C (n.2598+11T>C)
c.2385+11T>C (n.2385+11T>C)
 dbSNP
11g.121558848T>GCA602230889SORL1c.2910+11T>G (n.2910+11T>G)
c.1371+11T>G (n.1371+11T>G)
c.270+11T>G (n.270+11T>G)
c.2598+11T>G (n.2598+11T>G)
c.2385+11T>G (n.2385+11T>G)
 dbSNP gnomAD v2 gnomAD v4
11g.121558848T=CA2004919389SORL1c.2910+11T= (n.2910+11T=)
c.1371+11T= (n.1371+11T=)
c.270+11T= (n.270+11T=)
c.2598+11T= (n.2598+11T=)
c.2385+11T= (n.2385+11T=)
11g.121558850G>ACA6329081SORL1c.2910+13G>A (n.2910+13G>A)
c.1371+13G>A (n.1371+13G>A)
c.270+13G>A (n.270+13G>A)
c.2598+13G>A (n.2598+13G>A)
c.2385+13G>A (n.2385+13G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121558850G>CCA2724944635SORL1c.2910+13G>C (n.2910+13G>C)
c.1371+13G>C (n.1371+13G>C)
c.270+13G>C (n.270+13G>C)
c.2598+13G>C (n.2598+13G>C)
c.2385+13G>C (n.2385+13G>C)
 dbSNP
11g.121558850G=CA2004919390SORL1c.2910+13G= (n.2910+13G=)
c.1371+13G= (n.1371+13G=)
c.270+13G= (n.270+13G=)
c.2598+13G= (n.2598+13G=)
c.2385+13G= (n.2385+13G=)
11g.121558850G>TCA602230890SORL1c.2910+13G>T (n.2910+13G>T)
c.1371+13G>T (n.1371+13G>T)
c.270+13G>T (n.270+13G>T)
c.2598+13G>T (n.2598+13G>T)
c.2385+13G>T (n.2385+13G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121558853G>ACA6329082SORL1c.2910+16G>A (n.2910+16G>A)
c.1371+16G>A (n.1371+16G>A)
c.270+16G>A (n.270+16G>A)
c.2598+16G>A (n.2598+16G>A)
c.2385+16G>A (n.2385+16G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121558853G=CA2004919391SORL1c.2910+16G= (n.2910+16G=)
c.1371+16G= (n.1371+16G=)
c.270+16G= (n.270+16G=)
c.2598+16G= (n.2598+16G=)
c.2385+16G= (n.2385+16G=)
11g.121558854C=CA2004919392SORL1c.2910+17C= (n.2910+17C=)
c.1371+17C= (n.1371+17C=)
c.270+17C= (n.270+17C=)
c.2598+17C= (n.2598+17C=)
c.2385+17C= (n.2385+17C=)
11g.121558854C>TCA602230893SORL1c.2910+17C>T (n.2910+17C>T)
c.1371+17C>T (n.1371+17C>T)
c.270+17C>T (n.270+17C>T)
c.2598+17C>T (n.2598+17C>T)
c.2385+17C>T (n.2385+17C>T)
 dbSNP gnomAD v2 gnomAD v4
11g.121558856G=CA2004919393SORL1c.2910+19G= (n.2910+19G=)
c.1371+19G= (n.1371+19G=)
c.270+19G= (n.270+19G=)
c.2598+19G= (n.2598+19G=)
c.2385+19G= (n.2385+19G=)
11g.121558856G>TCA2004919394SORL1c.2910+19G>T (n.2910+19G>T)
c.1371+19G>T (n.1371+19G>T)
c.270+19G>T (n.270+19G>T)
c.2598+19G>T (n.2598+19G>T)
c.2385+19G>T (n.2385+19G>T)
 ClinVar dbSNP
11g.121558857C=CA2004919395SORL1c.2910+20C= (n.2910+20C=)
c.1371+20C= (n.1371+20C=)
c.270+20C= (n.270+20C=)
c.2598+20C= (n.2598+20C=)
c.2385+20C= (n.2385+20C=)
11g.121558857C>TCA602230895SORL1c.2910+20C>T (n.2910+20C>T)
c.1371+20C>T (n.1371+20C>T)
c.270+20C>T (n.270+20C>T)
c.2598+20C>T (n.2598+20C>T)
c.2385+20C>T (n.2385+20C>T)
 dbSNP gnomAD v2 gnomAD v4
11g.121558858C=CA2004919396SORL1c.2910+21C= (n.2910+21C=)
c.1371+21C= (n.1371+21C=)
c.270+21C= (n.270+21C=)
c.2598+21C= (n.2598+21C=)
c.2385+21C= (n.2385+21C=)
11g.121558858C>TCA6329083SORL1c.2910+21C>T (n.2910+21C>T)
c.1371+21C>T (n.1371+21C>T)
c.270+21C>T (n.270+21C>T)
c.2598+21C>T (n.2598+21C>T)
c.2385+21C>T (n.2385+21C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121558859G>ACA602230899SORL1c.2910+22G>A (n.2910+22G>A)
c.1371+22G>A (n.1371+22G>A)
c.270+22G>A (n.270+22G>A)
c.2598+22G>A (n.2598+22G>A)
c.2385+22G>A (n.2385+22G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121558859G=CA2004919397SORL1c.2910+22G= (n.2910+22G=)
c.1371+22G= (n.1371+22G=)
c.270+22G= (n.270+22G=)
c.2598+22G= (n.2598+22G=)
c.2385+22G= (n.2385+22G=)
11g.121558859G>TCA2616498008SORL1c.2910+22G>T (n.2910+22G>T)
c.1371+22G>T (n.1371+22G>T)
c.270+22G>T (n.270+22G>T)
c.2598+22G>T (n.2598+22G>T)
c.2385+22G>T (n.2385+22G>T)
 gnomAD v4
11g.121558860G>ACA2793898547SORL1c.2910+23G>A (n.2910+23G>A)
c.1371+23G>A (n.1371+23G>A)
c.270+23G>A (n.270+23G>A)
c.2598+23G>A (n.2598+23G>A)
c.2385+23G>A (n.2385+23G>A)
11g.121558860G=CA2004919398SORL1c.2910+23G= (n.2910+23G=)
c.1371+23G= (n.1371+23G=)
c.270+23G= (n.270+23G=)
c.2598+23G= (n.2598+23G=)
c.2385+23G= (n.2385+23G=)
11g.121558860G>TCA602230900SORL1c.2910+23G>T (n.2910+23G>T)
c.1371+23G>T (n.1371+23G>T)
c.270+23G>T (n.270+23G>T)
c.2598+23G>T (n.2598+23G>T)
c.2385+23G>T (n.2385+23G>T)
 dbSNP gnomAD v2 gnomAD v4
11g.121558861A=CA2004919399SORL1c.2910+24A= (n.2910+24A=)
c.1371+24A= (n.1371+24A=)
c.270+24A= (n.270+24A=)
c.2598+24A= (n.2598+24A=)
c.2385+24A= (n.2385+24A=)
11g.121558861A>GCA6329084SORL1c.2910+24A>G (n.2910+24A>G)
c.1371+24A>G (n.1371+24A>G)
c.270+24A>G (n.270+24A>G)
c.2598+24A>G (n.2598+24A>G)
c.2385+24A>G (n.2385+24A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121558862C>TCA2616498013SORL1c.2910+25C>T (n.2910+25C>T)
c.1371+25C>T (n.1371+25C>T)
c.270+25C>T (n.270+25C>T)
c.2598+25C>T (n.2598+25C>T)
c.2385+25C>T (n.2385+25C>T)
 gnomAD v4
11g.121558863A>GCA2616498014SORL1c.2910+26A>G (n.2910+26A>G)
c.1371+26A>G (n.1371+26A>G)
c.270+26A>G (n.270+26A>G)
c.2598+26A>G (n.2598+26A>G)
c.2385+26A>G (n.2385+26A>G)
 gnomAD v4
11g.121558864G>ACA2575009480SORL1c.2910+27G>A (n.2910+27G>A)
c.1371+27G>A (n.1371+27G>A)
c.270+27G>A (n.270+27G>A)
c.2598+27G>A (n.2598+27G>A)
c.2385+27G>A (n.2385+27G>A)
11g.121558865T>ACA2616498015SORL1c.2910+28T>A (n.2910+28T>A)
c.1371+28T>A (n.1371+28T>A)
c.270+28T>A (n.270+28T>A)
c.2598+28T>A (n.2598+28T>A)
c.2385+28T>A (n.2385+28T>A)
 gnomAD v4
11g.121558866C>ACA2616498016SORL1c.2910+29C>A (n.2910+29C>A)
c.1371+29C>A (n.1371+29C>A)
c.270+29C>A (n.270+29C>A)
c.2598+29C>A (n.2598+29C>A)
c.2385+29C>A (n.2385+29C>A)
 gnomAD v4
11g.121558867T>GCA6329085SORL1c.2910+30T>G (n.2910+30T>G)
c.1371+30T>G (n.1371+30T>G)
c.270+30T>G (n.270+30T>G)
c.2598+30T>G (n.2598+30T>G)
c.2385+30T>G (n.2385+30T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121558867T=CA2004919400SORL1c.2910+30T= (n.2910+30T=)
c.1371+30T= (n.1371+30T=)
c.270+30T= (n.270+30T=)
c.2598+30T= (n.2598+30T=)
c.2385+30T= (n.2385+30T=)
11g.121558869C>ACA6329086SORL1c.2910+32C>A (n.2910+32C>A)
c.1371+32C>A (n.1371+32C>A)
c.270+32C>A (n.270+32C>A)
c.2598+32C>A (n.2598+32C>A)
c.2385+32C>A (n.2385+32C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121558869C=CA2004919401SORL1c.2910+32C= (n.2910+32C=)
c.1371+32C= (n.1371+32C=)
c.270+32C= (n.270+32C=)
c.2598+32C= (n.2598+32C=)
c.2385+32C= (n.2385+32C=)
11g.121558870T>GCA2616498018SORL1c.2910+33T>G (n.2910+33T>G)
c.1371+33T>G (n.1371+33T>G)
c.270+33T>G (n.270+33T>G)
c.2598+33T>G (n.2598+33T>G)
c.2385+33T>G (n.2385+33T>G)
 gnomAD v4

Number of alleles fetched