Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.121558770T>A | CA383036060 | SORL1 | c.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) | |
11 | g.121558770T>C | CA383036061 | SORL1 | c.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) | |
11 | g.121558770T>G | CA383036062 | SORL1 | c.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 |
11 | g.121558770T= | CA2004919361 | SORL1 | c.2843T= (p.Phe948=) n.571T= n.549T= c.1304T= (p.Phe435=) c.203T= (p.Phe68=) c.2531T= (p.Phe844=) c.2318T= (p.Phe773=) | |
11 | g.121558771C>A | CA383036064 | SORL1 | c.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) | |
11 | g.121558771C>G | CA383036063 | SORL1 | c.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) | |
11 | g.121558771C>T | CA477218966 | SORL1 | c.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=) | |
11 | g.121558772A>C | CA383036065 | SORL1 | c.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) | |
11 | g.121558772A>G | CA383036066 | SORL1 | c.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) | |
11 | g.121558772A>T | CA383036067 | SORL1 | c.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) | |
11 | g.121558773G>A | CA383036068 | SORL1 | c.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) | |
11 | g.121558773G>C | CA383036069 | SORL1 | c.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) | |
11 | g.121558773G>T | CA383036070 | SORL1 | c.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) | |
11 | g.121558774T>A | CA383036072 | SORL1 | c.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) | |
11 | g.121558774T>C | CA477218967 | SORL1 | c.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 |
11 | g.121558774T>G | CA383036071 | SORL1 | c.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) | |
11 | g.121558774T= | CA2004919362 | SORL1 | c.2847T= (p.Ser949=) n.553T= c.1308T= (p.Ser436=) c.207T= (p.Ser69=) c.2535T= (p.Ser845=) c.2322T= (p.Ser774=) | |
11 | g.121558775G>A | CA383036073 | SORL1 | c.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 |
11 | g.121558775G>C | CA383036074 | SORL1 | c.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) | |
11 | g.121558775G>T | CA383036075 | SORL1 | c.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) | |
11 | g.121558776G>A | CA383036076 | SORL1 | c.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) | |
11 | g.121558776G>C | CA383036077 | SORL1 | c.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) | |
11 | g.121558776G>T | CA383036078 | SORL1 | c.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) | |
11 | g.121558777C>A | CA477218968 | SORL1 | c.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=) | |
11 | g.121558777C= | CA2004919363 | SORL1 | c.2850C= (p.Gly950=) n.556C= c.1311C= (p.Gly437=) c.210C= (p.Gly70=) c.2538C= (p.Gly846=) c.2325C= (p.Gly775=) | |
11 | g.121558777C>G | CA477218969 | SORL1 | c.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=) | |
11 | g.121558777C>T | CA229902943 | SORL1 | c.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 |
11 | g.121558778C>A | CA383036081 | SORL1 | c.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) | |
11 | g.121558778C>G | CA383036079 | SORL1 | c.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) | |
11 | g.121558778C>T | CA383036080 | SORL1 | c.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 |
11 | g.121558779A>C | CA383036082 | SORL1 | c.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) | |
11 | g.121558779A>G | CA383036083 | SORL1 | c.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) | |
11 | g.121558779A>T | CA383036084 | SORL1 | c.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 |
11 | g.121558780G>A | CA477218970 | SORL1 | c.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=) | |
11 | g.121558780G>C | CA383036085 | SORL1 | c.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) | |
11 | g.121558780G>T | CA383036086 | SORL1 | c.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) | |
11 | g.121558781C>A | CA383036087 | SORL1 | c.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) | |
11 | g.121558781C= | CA2004919364 | SORL1 | c.2854C= (p.Gln952=) n.560C= c.1315C= (p.Gln439=) c.214C= (p.Gln72=) c.2542C= (p.Gln848=) c.2329C= (p.Gln777=) | |
11 | g.121558781C>G | CA383036088 | SORL1 | c.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 |
11 | g.121558781C>T | CA383036089 | SORL1 | c.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) | |
11 | g.121558782A>C | CA383036090 | SORL1 | c.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) | |
11 | g.121558782A>G | CA383036091 | SORL1 | c.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) | |
11 | g.121558782A>T | CA383036092 | SORL1 | c.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) | |
11 | g.121558783G>A | CA477218971 | SORL1 | c.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=) | |
11 | g.121558783G>C | CA383036093 | SORL1 | c.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) | |
11 | g.121558783G>T | CA383036094 | SORL1 | c.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) | |
11 | g.121558784C>A | CA383036095 | SORL1 | c.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 |
11 | g.121558784C= | CA2004919365 | SORL1 | c.2857C= (p.Arg953=) n.563C= c.1318C= (p.Arg440=) c.217C= (p.Arg73=) c.2545C= (p.Arg849=) c.2332C= (p.Arg778=) | |
11 | g.121558784C>G | CA383036096 | SORL1 | c.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) | |
11 | g.121558784C>T | CA6329070 | SORL1 | c.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 |
11 | g.121558784_121558785insAACAAATGGACTCACCTTAAAGACAGCAATGGCATAGGGGTGCG | CA2793898513 | SORL1 | c.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) | |
11 | g.121558785G>A | CA6329071 | SORL1 | c.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 |
11 | g.121558785G>C | CA383036097 | SORL1 | c.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) | |
11 | g.121558785G= | CA2004919366 | SORL1 | c.2858G= (p.Arg953=) n.564G= c.1319G= (p.Arg440=) c.218G= (p.Arg73=) c.2546G= (p.Arg849=) c.2333G= (p.Arg778=) | |
11 | g.121558785G>T | CA383036098 | SORL1 | c.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 |
11 | g.121558786C>A | CA477218974 | SORL1 | c.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=) | |
11 | g.121558786C= | CA2004919367 | SORL1 | c.2859C= (p.Arg953=) n.565C= c.1320C= (p.Arg440=) c.219C= (p.Arg73=) c.2547C= (p.Arg849=) c.2334C= (p.Arg778=) | |
11 | g.121558786C>G | CA477218972 | SORL1 | c.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=) | |
11 | g.121558786C>T | CA477218973 | SORL1 | c.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 |
11 | g.121558787T>A | CA383036099 | SORL1 | c.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) | |
11 | g.121558787T>C | CA383036100 | SORL1 | c.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 |
11 | g.121558787T>G | CA383036101 | SORL1 | c.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) | |
11 | g.121558787T= | CA2004919368 | SORL1 | c.2860T= (p.Ser954=) n.566T= c.1321T= (p.Ser441=) c.220T= (p.Ser74=) c.2548T= (p.Ser850=) c.2335T= (p.Ser779=) | |
11 | g.121558788C>A | CA383036104 | SORL1 | c.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) | |
11 | g.121558788C>G | CA383036103 | SORL1 | c.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) | |
11 | g.121558788C>T | CA383036102 | SORL1 | c.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 |
11 | g.121558789T>A | CA477218976 | SORL1 | c.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=) | |
11 | g.121558789T>C | CA477218977 | SORL1 | c.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 |
11 | g.121558789T>G | CA477218975 | SORL1 | c.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=) | |
11 | g.121558790G>A | CA383036105 | SORL1 | c.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) | |
11 | g.121558790G>C | CA383036106 | SORL1 | c.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) | |
11 | g.121558790G>T | CA383036107 | SORL1 | c.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) | |
11 | g.121558791T>A | CA383036108 | SORL1 | c.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) | |
11 | g.121558791T>C | CA383036109 | SORL1 | c.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 |
11 | g.121558791T>G | CA383036110 | SORL1 | c.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) | |
11 | g.121558792C>A | CA477218978 | SORL1 | c.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=) | |
11 | g.121558792C>G | CA477218979 | SORL1 | c.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=) | |
11 | g.121558792C>T | CA477218980 | SORL1 | c.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=) | |
11 | g.121558793A= | CA2004919369 | SORL1 | c.2866A= (p.Ile956=) n.572A= c.1327A= (p.Ile443=) c.226A= (p.Ile76=) c.2554A= (p.Ile852=) c.2341A= (p.Ile781=) | |
11 | g.121558793A>C | CA383036111 | SORL1 | c.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 |
11 | g.121558793A>G | CA6329072 | SORL1 | c.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 |
11 | g.121558793A>T | CA383036112 | SORL1 | c.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) | |
11 | g.121558794T>A | CA383036113 | SORL1 | c.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) | |
11 | g.121558794T>C | CA383036114 | SORL1 | c.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) | |
11 | g.121558794T>G | CA383036115 | SORL1 | c.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) | |
11 | g.121558795T>A | CA477218982 | SORL1 | c.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=) | |
11 | g.121558795T>C | CA477218981 | SORL1 | c.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=) | |
11 | g.121558795T>G | CA383036116 | SORL1 | c.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) | |
11 | g.121558796C>A | CA383036117 | SORL1 | c.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) | |
11 | g.121558796C>G | CA383036118 | SORL1 | c.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 |
11 | g.121558796C>T | CA477218983 | SORL1 | c.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 |
11 | g.121558797T>A | CA383036119 | SORL1 | c.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) | |
11 | g.121558797T>C | CA383036120 | SORL1 | c.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 |
11 | g.121558797T>G | CA383036121 | SORL1 | c.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) | |
11 | g.121558797T= | CA2004919370 | SORL1 | c.2870T= (p.Leu957=) n.576T= c.1331T= (p.Leu444=) c.230T= (p.Leu77=) c.2558T= (p.Leu853=) c.2345T= (p.Leu782=) | |
11 | g.121558798G>A | CA477218984 | SORL1 | c.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=) | |
11 | g.121558798G>C | CA477218985 | SORL1 | c.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=) | |
11 | g.121558798G>T | CA477218986 | SORL1 | c.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=) | |
11 | g.121558799G>A | CA383036122 | SORL1 | c.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) | |
11 | g.121558799G>C | CA6329073 | SORL1 | c.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 |
11 | g.121558799G= | CA2004919371 | SORL1 | c.2872G= (p.Asp958=) n.578G= c.1333G= (p.Asp445=) c.232G= (p.Asp78=) c.2560G= (p.Asp854=) c.2347G= (p.Asp783=) | |
11 | g.121558799G>T | CA383036123 | SORL1 | c.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) | |
11 | g.121558800A>C | CA383036124 | SORL1 | c.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) | |
11 | g.121558800A>G | CA383036126 | SORL1 | c.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) | |
11 | g.121558800A>T | CA383036125 | SORL1 | c.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) | |
11 | g.121558801C>A | CA383036127 | SORL1 | c.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) | |
11 | g.121558801C>G | CA383036128 | SORL1 | c.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) | |
11 | g.121558801C>T | CA477218987 | SORL1 | c.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=) | |
11 | g.121558802A>C | CA383036129 | SORL1 | c.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) | |
11 | g.121558802A>G | CA383036130 | SORL1 | c.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 |
11 | g.121558802A>T | CA383036131 | SORL1 | c.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) | |
11 | g.121558803A>C | CA383036132 | SORL1 | c.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) | |
11 | g.121558803A>G | CA383036133 | SORL1 | c.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 |
11 | g.121558803A>T | CA383036134 | SORL1 | c.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) | |
11 | g.121558804C>A | CA383036135 | SORL1 | c.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 |
11 | g.121558804C= | CA2004919372 | SORL1 | c.2877C= (p.Asn959=) n.583C= c.1338C= (p.Asn446=) c.237C= (p.Asn79=) c.2565C= (p.Asn855=) c.2352C= (p.Asn784=) | |
11 | g.121558804C>G | CA383036136 | SORL1 | c.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) | |
11 | g.121558804C>T | CA477218988 | SORL1 | c.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 |
11 | g.121558805C>A | CA383036137 | SORL1 | c.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) | |
11 | g.121558805C= | CA2004919373 | SORL1 | c.2878C= (p.Leu960=) n.584C= c.1339C= (p.Leu447=) c.238C= (p.Leu80=) c.2566C= (p.Leu856=) c.2353C= (p.Leu785=) | |
11 | g.121558805C>G | CA383036138 | SORL1 | c.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 |
11 | g.121558805C>T | CA6329074 | SORL1 | c.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 |
11 | g.121558806T>A | CA383036139 | SORL1 | c.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) | |
11 | g.121558806T>C | CA383036141 | SORL1 | c.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) | |
11 | g.121558806T>G | CA383036140 | SORL1 | c.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) | |
11 | g.121558807C>A | CA477218989 | SORL1 | c.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=) | |
11 | g.121558807C>G | CA477218990 | SORL1 | c.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=) | |
11 | g.121558807C>T | CA477218991 | SORL1 | c.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=) | |
11 | g.121558808C>A | CA383036142 | SORL1 | c.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) | |
11 | g.121558808C>G | CA383036143 | SORL1 | c.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) | |
11 | g.121558808C>T | CA383036144 | SORL1 | c.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) | |
11 | g.121558809C>A | CA383036145 | SORL1 | c.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) | |
11 | g.121558809C= | CA2004919374 | SORL1 | c.2882C= (p.Pro961=) n.588C= c.1343C= (p.Pro448=) c.242C= (p.Pro81=) c.2570C= (p.Pro857=) c.2357C= (p.Pro786=) | |
11 | g.121558809C>G | CA383036146 | SORL1 | c.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) | |
11 | g.121558809C>T | CA6329075 | SORL1 | c.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 |
11 | g.121558810_121558813del | CA2695215685 | SORL1 | c.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?) | |
11 | g.121558810G>A | CA477218992 | SORL1 | c.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 |
11 | g.121558810G>C | CA477218993 | SORL1 | c.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=) | |
11 | g.121558810G= | CA2004919375 | SORL1 | c.2883G= (p.Pro961=) n.589G= c.1344G= (p.Pro448=) c.243G= (p.Pro81=) c.2571G= (p.Pro857=) c.2358G= (p.Pro786=) | |
11 | g.121558810G>T | CA6329076 | SORL1 | c.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 |
11 | g.121558811C>A | CA383036147 | SORL1 | c.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) | |
11 | g.121558811C= | CA2004919376 | SORL1 | c.2884C= (p.His962=) n.590C= c.1345C= (p.His449=) c.244C= (p.His82=) c.2572C= (p.His858=) c.2359C= (p.His787=) | |
11 | g.121558811C>G | CA6329077 | SORL1 | c.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 |
11 | g.121558811C>T | CA383036148 | SORL1 | c.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) | |
11 | g.121558812A>C | CA383036149 | SORL1 | c.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) | |
11 | g.121558812A>G | CA383036151 | SORL1 | c.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 |
11 | g.121558812A>T | CA383036150 | SORL1 | c.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) | |
11 | g.121558813C>A | CA383036152 | SORL1 | c.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 |
11 | g.121558813C= | CA2004919377 | SORL1 | c.2886C= (p.His962=) n.592C= c.1347C= (p.His449=) c.246C= (p.His82=) c.2574C= (p.His858=) c.2361C= (p.His787=) | |
11 | g.121558813C>G | CA383036153 | SORL1 | c.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) | |
11 | g.121558813C>T | CA477218994 | SORL1 | c.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 |
11 | g.121558814C>A | CA383036154 | SORL1 | c.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) | |
11 | g.121558814C>G | CA383036155 | SORL1 | c.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) | |
11 | g.121558814C>T | CA383036156 | SORL1 | c.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) | |
11 | g.121558815C>A | CA383036159 | SORL1 | c.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) | |
11 | g.121558815C>G | CA383036158 | SORL1 | c.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) | |
11 | g.121558815C>T | CA383036157 | SORL1 | c.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) | |
11 | g.121558816C>A | CA477218995 | SORL1 | c.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=) | |
11 | g.121558816C>G | CA477218996 | SORL1 | c.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=) | |
11 | g.121558816C>T | CA477218997 | SORL1 | c.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=) | |
11 | g.121558817T>A | CA383036160 | SORL1 | c.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) | |
11 | g.121558817T>C | CA383036161 | SORL1 | c.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) | |
11 | g.121558817T>G | CA383036162 | SORL1 | c.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) | |
11 | g.121558818A= | CA2004919378 | SORL1 | c.2891A= (p.Tyr964=) n.597A= c.1352A= (p.Tyr451=) c.251A= (p.Tyr84=) c.2579A= (p.Tyr860=) c.2366A= (p.Tyr789=) | |
11 | g.121558818A>C | CA383036163 | SORL1 | c.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) | |
11 | g.121558818A>G | CA383036164 | SORL1 | c.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 |
11 | g.121558818A>T | CA229902992 | SORL1 | c.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 |
11 | g.121558819T>A | CA383036166 | SORL1 | c.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) | |
11 | g.121558819T>C | CA6329078 | SORL1 | c.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 |
11 | g.121558819T>G | CA383036165 | SORL1 | c.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) | |
11 | g.121558819T= | CA2004919379 | SORL1 | c.2892T= (p.Tyr964=) n.598T= c.1353T= (p.Tyr451=) c.252T= (p.Tyr84=) c.2580T= (p.Tyr860=) c.2367T= (p.Tyr789=) | |
11 | g.121558820G>A | CA383036167 | SORL1 | c.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) | |
11 | g.121558820G>C | CA383036168 | SORL1 | c.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) | |
11 | g.121558820G>T | CA383036169 | SORL1 | c.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) | |
11 | g.121558821C>A | CA383036170 | SORL1 | c.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) | |
11 | g.121558821C>G | CA383036171 | SORL1 | c.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) | |
11 | g.121558821C>T | CA383036172 | SORL1 | c.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 |
11 | g.121558822C>A | CA477218998 | SORL1 | c.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=) | |
11 | g.121558822C= | CA2004919380 | SORL1 | c.2895C= (p.Ala965=) n.601C= c.1356C= (p.Ala452=) c.255C= (p.Ala85=) c.2583C= (p.Ala861=) c.2370C= (p.Ala790=) | |
11 | g.121558822C>G | CA477219000 | SORL1 | c.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 |
11 | g.121558822C>T | CA477218999 | SORL1 | c.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 |
11 | g.121558823A= | CA2004919381 | SORL1 | c.2896A= (p.Ile966=) n.602A= c.1357A= (p.Ile453=) c.256A= (p.Ile86=) c.2584A= (p.Ile862=) c.2371A= (p.Ile791=) | |
11 | g.121558823A>C | CA383036173 | SORL1 | c.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 |
11 | g.121558823A>G | CA383036174 | SORL1 | c.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 |
11 | g.121558823A>T | CA383036175 | SORL1 | c.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) | |
11 | g.121558824T>A | CA383036176 | SORL1 | c.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) | |
11 | g.121558824T>C | CA383036177 | SORL1 | c.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 |
11 | g.121558824T>G | CA383036178 | SORL1 | c.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) | |
11 | g.121558824T= | CA2004919382 | SORL1 | c.2897T= (p.Ile966=) n.603T= c.1358T= (p.Ile453=) c.257T= (p.Ile86=) c.2585T= (p.Ile862=) c.2372T= (p.Ile791=) | |
11 | g.121558825T>A | CA477219001 | SORL1 | c.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=) | |
11 | g.121558825T>C | CA477219002 | SORL1 | c.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 |
11 | g.121558825T>G | CA383036179 | SORL1 | c.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 |
11 | g.121558825T= | CA2004919383 | SORL1 | c.2898T= (p.Ile966=) n.604T= c.1359T= (p.Ile453=) c.258T= (p.Ile86=) c.2586T= (p.Ile862=) c.2373T= (p.Ile791=) | |
11 | g.121558826G>A | CA383036182 | SORL1 | c.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) | |
11 | g.121558826G>C | CA383036180 | SORL1 | c.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) | |
11 | g.121558826G>T | CA383036181 | SORL1 | c.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) | |
11 | g.121558827C>A | CA383036183 | SORL1 | c.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) | |
11 | g.121558827C>G | CA383036184 | SORL1 | c.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) | |
11 | g.121558827C>T | CA383036185 | SORL1 | c.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) | |
11 | g.121558828T>A | CA6329079 | SORL1 | c.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 |
11 | g.121558828T>C | CA477219003 | SORL1 | c.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=) | |
11 | g.121558828T>G | CA477219004 | SORL1 | c.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=) | |
11 | g.121558828T= | CA2004919384 | SORL1 | c.2901T= (p.Ala967=) n.607T= c.1362T= (p.Ala454=) c.261T= (p.Ala87=) c.2589T= (p.Ala863=) c.2376T= (p.Ala792=) | |
11 | g.121558829G>A | CA6329080 | SORL1 | c.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 |
11 | g.121558829G>C | CA383036186 | SORL1 | c.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) | |
11 | g.121558829G= | CA2004919385 | SORL1 | c.2902G= (p.Val968=) n.608G= c.1363G= (p.Val455=) c.262G= (p.Val88=) c.2590G= (p.Val864=) c.2377G= (p.Val793=) | |
11 | g.121558829G>T | CA383036187 | SORL1 | c.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) | |
11 | g.121558830T>A | CA383036188 | SORL1 | c.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 |
11 | g.121558830T>C | CA383036189 | SORL1 | c.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) | |
11 | g.121558830T>G | CA383036190 | SORL1 | c.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) | |
11 | g.121558831C>A | CA477219005 | SORL1 | c.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=) | |
11 | g.121558831C>G | CA477219006 | SORL1 | c.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=) | |
11 | g.121558831C>T | CA477219007 | SORL1 | c.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 |
11 | g.121558832T>A | CA383036191 | SORL1 | c.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) | |
11 | g.121558832T>C | CA383036192 | SORL1 | c.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 |
11 | g.121558832T>G | CA383036193 | SORL1 | c.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) | |
11 | g.121558832T= | CA2004919386 | SORL1 | c.2905T= (p.Phe969=) n.611T= c.1366T= (p.Phe456=) c.265T= (p.Phe89=) c.2593T= (p.Phe865=) c.2380T= (p.Phe794=) | |
11 | g.121558834dup | CA2843310405 | SORL1 | c.2907dup (p.Lys970Ter) n.613dup c.1368dup (p.Lys457Ter) c.267dup (p.Lys90Ter) c.2595dup (p.Lys866Ter) c.2382dup (p.Lys795Ter) | |
11 | g.121558833T>A | CA383036196 | SORL1 | c.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) | |
11 | g.121558833T>C | CA383036195 | SORL1 | c.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) | |
11 | g.121558833T>G | CA383036194 | SORL1 | c.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) | |
11 | g.121558834T>A | CA383036197 | SORL1 | c.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) | |
11 | g.121558834T>C | CA477219008 | SORL1 | c.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=) | |
11 | g.121558834T>G | CA383036198 | SORL1 | c.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) | |
11 | g.121558835A>C | CA383036199 | SORL1 | c.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) | |
11 | g.121558835A>G | CA383036200 | SORL1 | c.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) | |
11 | g.121558835A>T | CA383036201 | SORL1 | c.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) | |
11 | g.121558836A>C | CA383036202 | SORL1 | c.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) | |
11 | g.121558836A>G | CA383036203 | SORL1 | c.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) | |
11 | g.121558836A>T | CA383036204 | SORL1 | c.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) | |
11 | g.121558837G>A | CA477219009 | SORL1 | c.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=) | |
11 | g.121558837G>C | CA383036205 | SORL1 | c.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) | |
11 | g.121558837G>T | CA383036206 | SORL1 | c.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) | |
11 | g.121558838G>A | CA383036207 | SORL1 | c.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) | |
11 | g.121558838G>C | CA383036208 | SORL1 | c.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) | |
11 | g.121558838G>T | CA383036209 | SORL1 | c.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) | |
11 | g.121558839del | CA2616498004 | SORL1 | c.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 |
11 | g.121558839T>A | CA383036212 | SORL1 | c.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) | |
11 | g.121558839T>C | CA383036211 | SORL1 | c.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) | |
11 | g.121558839T>G | CA383036210 | SORL1 | c.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) | |
11 | g.121558842G>C | CA602230888 | SORL1 | c.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 |
11 | g.121558842G= | CA2004919387 | SORL1 | c.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=) | |
11 | g.121558843T>G | CA2616498005 | SORL1 | c.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 |
11 | g.121558845_121558846insT | CA2616498006 | SORL1 | c.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 |
11 | g.121558846A= | CA2004919388 | SORL1 | c.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=) | |
11 | g.121558846A>G | CA672586084 | SORL1 | c.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 |
11 | g.121558848T>C | CA672586092 | SORL1 | c.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 |
11 | g.121558848T>G | CA602230889 | SORL1 | c.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 |
11 | g.121558848T= | CA2004919389 | SORL1 | c.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=) | |
11 | g.121558850G>A | CA6329081 | SORL1 | c.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 |
11 | g.121558850G>C | CA2724944635 | SORL1 | c.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 |
11 | g.121558850G= | CA2004919390 | SORL1 | c.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=) | |
11 | g.121558850G>T | CA602230890 | SORL1 | c.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 |
11 | g.121558853G>A | CA6329082 | SORL1 | c.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 |
11 | g.121558853G= | CA2004919391 | SORL1 | c.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=) | |
11 | g.121558854C= | CA2004919392 | SORL1 | c.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=) | |
11 | g.121558854C>T | CA602230893 | SORL1 | c.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 |
11 | g.121558856G= | CA2004919393 | SORL1 | c.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=) | |
11 | g.121558856G>T | CA2004919394 | SORL1 | c.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 |
11 | g.121558857C= | CA2004919395 | SORL1 | c.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=) | |
11 | g.121558857C>T | CA602230895 | SORL1 | c.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 |
11 | g.121558858C= | CA2004919396 | SORL1 | c.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=) | |
11 | g.121558858C>T | CA6329083 | SORL1 | c.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 |
11 | g.121558859G>A | CA602230899 | SORL1 | c.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 |
11 | g.121558859G= | CA2004919397 | SORL1 | c.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=) | |
11 | g.121558859G>T | CA2616498008 | SORL1 | c.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 |
11 | g.121558860G>A | CA2793898547 | SORL1 | c.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) | |
11 | g.121558860G= | CA2004919398 | SORL1 | c.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=) | |
11 | g.121558860G>T | CA602230900 | SORL1 | c.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 |
11 | g.121558861A= | CA2004919399 | SORL1 | c.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=) | |
11 | g.121558861A>G | CA6329084 | SORL1 | c.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 |
11 | g.121558862C>T | CA2616498013 | SORL1 | c.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 |
11 | g.121558863A>G | CA2616498014 | SORL1 | c.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 |
11 | g.121558864G>A | CA2575009480 | SORL1 | c.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) | |
11 | g.121558865T>A | CA2616498015 | SORL1 | c.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 |
11 | g.121558866C>A | CA2616498016 | SORL1 | c.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 |
11 | g.121558867T>G | CA6329085 | SORL1 | c.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 |
11 | g.121558867T= | CA2004919400 | SORL1 | c.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=) | |
11 | g.121558869C>A | CA6329086 | SORL1 | c.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 |
11 | g.121558869C= | CA2004919401 | SORL1 | c.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=) | |
11 | g.121558870T>G | CA2616498018 | SORL1 | c.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 |