WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.121558765_121558768del | CA2556713216 | SORL1 | c.2838_2841del (p.Thr947SerfsTer?) n.566_569del n.544_547del c.1299_1302del (p.Thr434SerfsTer?) c.198_201del (p.Thr67SerfsTer?) c.2526_2529del (p.Thr843SerfsTer?) c.2313_2316del (p.Thr772SerfsTer?) | |
| 11 | g.121558767C>A | CA383036055 | SORL1 | c.2840C>A (p.Thr947Lys) n.568C>A n.546C>A c.1301C>A (p.Thr434Lys) c.200C>A (p.Thr67Lys) c.2528C>A (p.Thr843Lys) c.2315C>A (p.Thr772Lys) | dbSNP gnomAD v4 |
| 11 | g.121558767C= | CA2004919358 | SORL1 | c.2840C= (p.Thr947=) n.568C= n.546C= c.1301C= (p.Thr434=) c.200C= (p.Thr67=) c.2528C= (p.Thr843=) c.2315C= (p.Thr772=) | |
| 11 | g.121558767C>G | CA383036056 | SORL1 | c.2840C>G (p.Thr947Arg) n.568C>G n.546C>G c.1301C>G (p.Thr434Arg) c.200C>G (p.Thr67Arg) c.2528C>G (p.Thr843Arg) c.2315C>G (p.Thr772Arg) | |
| 11 | g.121558767C>T | CA6329068 | SORL1 | c.2840C>T (p.Thr947Met) n.568C>T n.546C>T c.1301C>T (p.Thr434Met) c.200C>T (p.Thr67Met) c.2528C>T (p.Thr843Met) c.2315C>T (p.Thr772Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121558768G>A | CA6329069 | SORL1 | c.2841G>A (p.Thr947=) n.569G>A n.547G>A c.1302G>A (p.Thr434=) c.201G>A (p.Thr67=) c.2529G>A (p.Thr843=) c.2316G>A (p.Thr772=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121558768G>C | CA477218964 | SORL1 | c.2841G>C (p.Thr947=) n.569G>C n.547G>C c.1302G>C (p.Thr434=) c.201G>C (p.Thr67=) c.2529G>C (p.Thr843=) c.2316G>C (p.Thr772=) | dbSNP |
| 11 | g.121558768G= | CA2004919359 | SORL1 | c.2841G= (p.Thr947=) n.569G= n.547G= c.1302G= (p.Thr434=) c.201G= (p.Thr67=) c.2529G= (p.Thr843=) c.2316G= (p.Thr772=) | |
| 11 | g.121558768G>T | CA477218965 | SORL1 | c.2841G>T (p.Thr947=) n.569G>T n.547G>T c.1302G>T (p.Thr434=) c.201G>T (p.Thr67=) c.2529G>T (p.Thr843=) c.2316G>T (p.Thr772=) | ClinVar gnomAD v4 |
| 11 | g.121558769T>A | CA383036057 | SORL1 | c.2842T>A (p.Phe948Ile) n.570T>A n.548T>A c.1303T>A (p.Phe435Ile) c.202T>A (p.Phe68Ile) c.2530T>A (p.Phe844Ile) c.2317T>A (p.Phe773Ile) | |
| 11 | g.121558769T>C | CA383036058 | SORL1 | c.2842T>C (p.Phe948Leu) n.570T>C n.548T>C c.1303T>C (p.Phe435Leu) c.202T>C (p.Phe68Leu) c.2530T>C (p.Phe844Leu) c.2317T>C (p.Phe773Leu) | |
| 11 | g.121558769T>G | CA383036059 | SORL1 | c.2842T>G (p.Phe948Val) n.570T>G n.548T>G c.1303T>G (p.Phe435Val) c.202T>G (p.Phe68Val) c.2530T>G (p.Phe844Val) c.2317T>G (p.Phe773Val) | dbSNP |
| 11 | g.121558769T= | CA2004919360 | SORL1 | c.2842T= (p.Phe948=) n.570T= n.548T= c.1303T= (p.Phe435=) c.202T= (p.Phe68=) c.2530T= (p.Phe844=) c.2317T= (p.Phe773=) | |
| 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) |