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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.78039141_78039159del | CA2499217907 | AP3B1 | c.2547_2565del (p.Met850HisfsTer2) n.494_512del c.2587_2605del (n.2587_2605del) c.1893_1911del (p.Met632HisfsTer2) c.*2456_*2474del (n.*2456_*2474del) c.2637_2655del (p.Met880HisfsTer2) c.2688_2706del (p.Met897HisfsTer2) n.409_427del c.2694_2712del (p.Met899HisfsTer2) n.2852_2870del n.346_364del c.*219_*237del (n.*219_*237del) c.2514_2532del (p.Met839HisfsTer2) c.2559_2577del (p.Met854HisfsTer2) | ClinVar dbSNP |
| 5 | g.78039150G>A | CA360332072 | AP3B1 | c.2555C>T (p.Ser852Phe) n.502C>T c.2595C>T (n.2595C>T) c.1901C>T (p.Ser634Phe) c.*2464C>T (n.*2464C>T) c.2645C>T (p.Ser882Phe) c.2696C>T (p.Ser899Phe) n.417C>T c.2702C>T (p.Ser901Phe) n.2860C>T n.354C>T c.*227C>T (n.*227C>T) c.2522C>T (p.Ser841Phe) c.2567C>T (p.Ser856Phe) c.1C>T | |
| 5 | g.78039150G>C | CA354052 | AP3B1 | c.2555C>G (p.Ser852Cys) n.502C>G c.2595C>G (n.2595C>G) c.1901C>G (p.Ser634Cys) c.*2464C>G (n.*2464C>G) c.2645C>G (p.Ser882Cys) c.2696C>G (p.Ser899Cys) n.417C>G c.2702C>G (p.Ser901Cys) n.2860C>G n.354C>G c.*227C>G (n.*227C>G) c.2522C>G (p.Ser841Cys) c.2567C>G (p.Ser856Cys) c.1C>G | ClinVar dbSNP |
| 5 | g.78039150G= | CA1557269251 | AP3B1 | c.2555C= (p.Ser852=) n.502C= c.2595C= (n.2595C=) c.1901C= (p.Ser634=) c.*2464C= (n.*2464C=) c.2645C= (p.Ser882=) c.2696C= (p.Ser899=) n.417C= c.2702C= (p.Ser901=) n.2860C= n.354C= c.*227C= (n.*227C=) c.2522C= (p.Ser841=) c.2567C= (p.Ser856=) c.1C= | |
| 5 | g.78039150G>T | CA360332073 | AP3B1 | c.2555C>A (p.Ser852Tyr) n.502C>A c.2595C>A (n.2595C>A) c.1901C>A (p.Ser634Tyr) c.*2464C>A (n.*2464C>A) c.2645C>A (p.Ser882Tyr) c.2696C>A (p.Ser899Tyr) n.417C>A c.2702C>A (p.Ser901Tyr) n.2860C>A n.354C>A c.*227C>A (n.*227C>A) c.2522C>A (p.Ser841Tyr) c.2567C>A (p.Ser856Tyr) c.1C>A | |
| 5 | g.78039151A>C | CA360332074 | AP3B1 | c.2554T>G (p.Ser852Ala) n.501T>G c.2594T>G (n.2594T>G) c.1900T>G (p.Ser634Ala) c.*2463T>G (n.*2463T>G) c.2644T>G (p.Ser882Ala) c.2695T>G (p.Ser899Ala) n.416T>G c.2701T>G (p.Ser901Ala) n.2859T>G n.353T>G c.*226T>G (n.*226T>G) c.2521T>G (p.Ser841Ala) c.2566T>G (p.Ser856Ala) | |
| 5 | g.78039151A>G | CA360332075 | AP3B1 | c.2554T>C (p.Ser852Pro) n.501T>C c.2594T>C (n.2594T>C) c.1900T>C (p.Ser634Pro) c.*2463T>C (n.*2463T>C) c.2644T>C (p.Ser882Pro) c.2695T>C (p.Ser899Pro) n.416T>C c.2701T>C (p.Ser901Pro) n.2859T>C n.353T>C c.*226T>C (n.*226T>C) c.2521T>C (p.Ser841Pro) c.2566T>C (p.Ser856Pro) | |
| 5 | g.78039151A>T | CA360332076 | AP3B1 | c.2554T>A (p.Ser852Thr) n.501T>A c.2594T>A (n.2594T>A) c.1900T>A (p.Ser634Thr) c.*2463T>A (n.*2463T>A) c.2644T>A (p.Ser882Thr) c.2695T>A (p.Ser899Thr) n.416T>A c.2701T>A (p.Ser901Thr) n.2859T>A n.353T>A c.*226T>A (n.*226T>A) c.2521T>A (p.Ser841Thr) c.2566T>A (p.Ser856Thr) | |
| 5 | g.78039152G>A | CA3316698 | AP3B1 | c.2553C>T (p.Val851=) n.500C>T c.2593C>T (n.2593C>T) c.1899C>T (p.Val633=) c.*2462C>T (n.*2462C>T) c.2643C>T (p.Val881=) c.2694C>T (p.Val898=) n.415C>T c.2700C>T (p.Val900=) n.2858C>T n.352C>T c.*225C>T (n.*225C>T) c.2520C>T (p.Val840=) c.2565C>T (p.Val855=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78039152G>C | CA445400253 | AP3B1 | c.2553C>G (p.Val851=) n.500C>G c.2593C>G (n.2593C>G) c.1899C>G (p.Val633=) c.*2462C>G (n.*2462C>G) c.2643C>G (p.Val881=) c.2694C>G (p.Val898=) n.415C>G c.2700C>G (p.Val900=) n.2858C>G n.352C>G c.*225C>G (n.*225C>G) c.2520C>G (p.Val840=) c.2565C>G (p.Val855=) | |
| 5 | g.78039152G= | CA1557269256 | AP3B1 | c.2553C= (p.Val851=) n.500C= c.2593C= (n.2593C=) c.1899C= (p.Val633=) c.*2462C= (n.*2462C=) c.2643C= (p.Val881=) c.2694C= (p.Val898=) n.415C= c.2700C= (p.Val900=) n.2858C= n.352C= c.*225C= (n.*225C=) c.2520C= (p.Val840=) c.2565C= (p.Val855=) | |
| 5 | g.78039152G>T | CA445400254 | AP3B1 | c.2553C>A (p.Val851=) n.500C>A c.2593C>A (n.2593C>A) c.1899C>A (p.Val633=) c.*2462C>A (n.*2462C>A) c.2643C>A (p.Val881=) c.2694C>A (p.Val898=) n.415C>A c.2700C>A (p.Val900=) n.2858C>A n.352C>A c.*225C>A (n.*225C>A) c.2520C>A (p.Val840=) c.2565C>A (p.Val855=) | |
| 5 | g.78039153A>C | CA360332078 | AP3B1 | c.2552T>G (p.Val851Gly) n.499T>G c.2592T>G (n.2592T>G) c.1898T>G (p.Val633Gly) c.*2461T>G (n.*2461T>G) c.2642T>G (p.Val881Gly) c.2693T>G (p.Val898Gly) n.414T>G c.2699T>G (p.Val900Gly) n.2857T>G n.351T>G c.*224T>G (n.*224T>G) c.2519T>G (p.Val840Gly) c.2564T>G (p.Val855Gly) | |
| 5 | g.78039153A>G | CA360332079 | AP3B1 | c.2552T>C (p.Val851Ala) n.499T>C c.2592T>C (n.2592T>C) c.1898T>C (p.Val633Ala) c.*2461T>C (n.*2461T>C) c.2642T>C (p.Val881Ala) c.2693T>C (p.Val898Ala) n.414T>C c.2699T>C (p.Val900Ala) n.2857T>C n.351T>C c.*224T>C (n.*224T>C) c.2519T>C (p.Val840Ala) c.2564T>C (p.Val855Ala) | |
| 5 | g.78039153A>T | CA360332077 | AP3B1 | c.2552T>A (p.Val851Asp) n.499T>A c.2592T>A (n.2592T>A) c.1898T>A (p.Val633Asp) c.*2461T>A (n.*2461T>A) c.2642T>A (p.Val881Asp) c.2693T>A (p.Val898Asp) n.414T>A c.2699T>A (p.Val900Asp) n.2857T>A n.351T>A c.*224T>A (n.*224T>A) c.2519T>A (p.Val840Asp) c.2564T>A (p.Val855Asp) | |
| 5 | g.78039154C>A | CA360332082 | AP3B1 | c.2551G>T (p.Val851Phe) n.498G>T c.2591G>T (n.2591G>T) c.1897G>T (p.Val633Phe) c.*2460G>T (n.*2460G>T) c.2641G>T (p.Val881Phe) c.2692G>T (p.Val898Phe) n.413G>T c.2698G>T (p.Val900Phe) n.2856G>T n.350G>T c.*223G>T (n.*223G>T) c.2518G>T (p.Val840Phe) c.2563G>T (p.Val855Phe) | |
| 5 | g.78039154C>G | CA360332080 | AP3B1 | c.2551G>C (p.Val851Leu) n.498G>C c.2591G>C (n.2591G>C) c.1897G>C (p.Val633Leu) c.*2460G>C (n.*2460G>C) c.2641G>C (p.Val881Leu) c.2692G>C (p.Val898Leu) n.413G>C c.2698G>C (p.Val900Leu) n.2856G>C n.350G>C c.*223G>C (n.*223G>C) c.2518G>C (p.Val840Leu) c.2563G>C (p.Val855Leu) | |
| 5 | g.78039154C>T | CA360332081 | AP3B1 | c.2551G>A (p.Val851Ile) n.498G>A c.2591G>A (n.2591G>A) c.1897G>A (p.Val633Ile) c.*2460G>A (n.*2460G>A) c.2641G>A (p.Val881Ile) c.2692G>A (p.Val898Ile) n.413G>A c.2698G>A (p.Val900Ile) n.2856G>A n.350G>A c.*223G>A (n.*223G>A) c.2518G>A (p.Val840Ile) c.2563G>A (p.Val855Ile) | |
| 5 | g.78039155C>A | CA360332083 | AP3B1 | c.2550G>T (p.Met850Ile) n.497G>T c.2590G>T (n.2590G>T) c.1896G>T (p.Met632Ile) c.*2459G>T (n.*2459G>T) c.2640G>T (p.Met880Ile) c.2691G>T (p.Met897Ile) n.412G>T c.2697G>T (p.Met899Ile) n.2855G>T n.349G>T c.*222G>T (n.*222G>T) c.2517G>T (p.Met839Ile) c.2562G>T (p.Met854Ile) | |
| 5 | g.78039155C>G | CA360332084 | AP3B1 | c.2550G>C (p.Met850Ile) n.497G>C c.2590G>C (n.2590G>C) c.1896G>C (p.Met632Ile) c.*2459G>C (n.*2459G>C) c.2640G>C (p.Met880Ile) c.2691G>C (p.Met897Ile) n.412G>C c.2697G>C (p.Met899Ile) n.2855G>C n.349G>C c.*222G>C (n.*222G>C) c.2517G>C (p.Met839Ile) c.2562G>C (p.Met854Ile) | |
| 5 | g.78039155C>T | CA360332085 | AP3B1 | c.2550G>A (p.Met850Ile) n.497G>A c.2590G>A (n.2590G>A) c.1896G>A (p.Met632Ile) c.*2459G>A (n.*2459G>A) c.2640G>A (p.Met880Ile) c.2691G>A (p.Met897Ile) n.412G>A c.2697G>A (p.Met899Ile) n.2855G>A n.349G>A c.*222G>A (n.*222G>A) c.2517G>A (p.Met839Ile) c.2562G>A (p.Met854Ile) | |
| 5 | g.78039156A= | CA1557269262 | AP3B1 | c.2549T= (p.Met850=) n.496T= c.2589T= (n.2589T=) c.1895T= (p.Met632=) c.*2458T= (n.*2458T=) c.2639T= (p.Met880=) c.2690T= (p.Met897=) n.411T= c.2696T= (p.Met899=) n.2854T= n.348T= c.*221T= (n.*221T=) c.2516T= (p.Met839=) c.2561T= (p.Met854=) | |
| 5 | g.78039156A>C | CA360332088 | AP3B1 | c.2549T>G (p.Met850Arg) n.496T>G c.2589T>G (n.2589T>G) c.1895T>G (p.Met632Arg) c.*2458T>G (n.*2458T>G) c.2639T>G (p.Met880Arg) c.2690T>G (p.Met897Arg) n.411T>G c.2696T>G (p.Met899Arg) n.2854T>G n.348T>G c.*221T>G (n.*221T>G) c.2516T>G (p.Met839Arg) c.2561T>G (p.Met854Arg) | |
| 5 | g.78039156A>G | CA360332087 | AP3B1 | c.2549T>C (p.Met850Thr) n.496T>C c.2589T>C (n.2589T>C) c.1895T>C (p.Met632Thr) c.*2458T>C (n.*2458T>C) c.2639T>C (p.Met880Thr) c.2690T>C (p.Met897Thr) n.411T>C c.2696T>C (p.Met899Thr) n.2854T>C n.348T>C c.*221T>C (n.*221T>C) c.2516T>C (p.Met839Thr) c.2561T>C (p.Met854Thr) | |
| 5 | g.78039156A>T | CA360332086 | AP3B1 | c.2549T>A (p.Met850Lys) n.496T>A c.2589T>A (n.2589T>A) c.1895T>A (p.Met632Lys) c.*2458T>A (n.*2458T>A) c.2639T>A (p.Met880Lys) c.2690T>A (p.Met897Lys) n.411T>A c.2696T>A (p.Met899Lys) n.2854T>A n.348T>A c.*221T>A (n.*221T>A) c.2516T>A (p.Met839Lys) c.2561T>A (p.Met854Lys) | |
| 5 | g.78039156_78039157insGAT | CA3316699 | AP3B1 | c.2548_2549insATC (p.Met850delinsAsnLeu) n.495_496insATC c.2588_2589insATC (n.2588_2589insATC) c.1894_1895insATC (p.Met632delinsAsnLeu) c.*2457_*2458insATC (n.*2457_*2458insATC) c.2638_2639insATC (p.Met880delinsAsnLeu) c.2689_2690insATC (p.Met897delinsAsnLeu) n.410_411insATC c.2695_2696insATC (p.Met899delinsAsnLeu) n.2853_2854insATC n.347_348insATC c.*220_*221insATC (n.*220_*221insATC) c.2515_2516insATC (p.Met839delinsAsnLeu) c.2560_2561insATC (p.Met854delinsAsnLeu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78039157T>A | CA360332089 | AP3B1 | c.2548A>T (p.Met850Leu) n.495A>T c.2588A>T (n.2588A>T) c.1894A>T (p.Met632Leu) c.*2457A>T (n.*2457A>T) c.2638A>T (p.Met880Leu) c.2689A>T (p.Met897Leu) n.410A>T c.2695A>T (p.Met899Leu) n.2853A>T n.347A>T c.*220A>T (n.*220A>T) c.2515A>T (p.Met839Leu) c.2560A>T (p.Met854Leu) | gnomAD v4 |
| 5 | g.78039157T>C | CA360332090 | AP3B1 | c.2548A>G (p.Met850Val) n.495A>G c.2588A>G (n.2588A>G) c.1894A>G (p.Met632Val) c.*2457A>G (n.*2457A>G) c.2638A>G (p.Met880Val) c.2689A>G (p.Met897Val) n.410A>G c.2695A>G (p.Met899Val) n.2853A>G n.347A>G c.*220A>G (n.*220A>G) c.2515A>G (p.Met839Val) c.2560A>G (p.Met854Val) | gnomAD v4 |
| 5 | g.78039157T>G | CA360332091 | AP3B1 | c.2548A>C (p.Met850Leu) n.495A>C c.2588A>C (n.2588A>C) c.1894A>C (p.Met632Leu) c.*2457A>C (n.*2457A>C) c.2638A>C (p.Met880Leu) c.2689A>C (p.Met897Leu) n.410A>C c.2695A>C (p.Met899Leu) n.2853A>C n.347A>C c.*220A>C (n.*220A>C) c.2515A>C (p.Met839Leu) c.2560A>C (p.Met854Leu) | |
| 5 | g.78039158C>A | CA360332092 | AP3B1 | c.2547G>T (p.Lys849Asn) n.494G>T c.2587G>T (n.2587G>T) c.1893G>T (p.Lys631Asn) c.*2456G>T (n.*2456G>T) c.2637G>T (p.Lys879Asn) c.2688G>T (p.Lys896Asn) n.409G>T c.2694G>T (p.Lys898Asn) n.2852G>T n.346G>T c.*219G>T (n.*219G>T) c.2514G>T (p.Lys838Asn) c.2559G>T (p.Lys853Asn) | |
| 5 | g.78039158C>G | CA360332093 | AP3B1 | c.2547G>C (p.Lys849Asn) n.494G>C c.2587G>C (n.2587G>C) c.1893G>C (p.Lys631Asn) c.*2456G>C (n.*2456G>C) c.2637G>C (p.Lys879Asn) c.2688G>C (p.Lys896Asn) n.409G>C c.2694G>C (p.Lys898Asn) n.2852G>C n.346G>C c.*219G>C (n.*219G>C) c.2514G>C (p.Lys838Asn) c.2559G>C (p.Lys853Asn) | |
| 5 | g.78039158C>T | CA445400264 | AP3B1 | c.2547G>A (p.Lys849=) n.494G>A c.2587G>A (n.2587G>A) c.1893G>A (p.Lys631=) c.*2456G>A (n.*2456G>A) c.2637G>A (p.Lys879=) c.2688G>A (p.Lys896=) n.409G>A c.2694G>A (p.Lys898=) n.2852G>A n.346G>A c.*219G>A (n.*219G>A) c.2514G>A (p.Lys838=) c.2559G>A (p.Lys853=) | |
| 5 | g.78039159T>A | CA360332094 | AP3B1 | c.2546A>T (p.Lys849Met) n.493A>T c.2586A>T (n.2586A>T) c.1892A>T (p.Lys631Met) c.*2455A>T (n.*2455A>T) c.2636A>T (p.Lys879Met) c.2687A>T (p.Lys896Met) n.408A>T c.2693A>T (p.Lys898Met) n.2851A>T n.345A>T c.*218A>T (n.*218A>T) c.2513A>T (p.Lys838Met) c.2558A>T (p.Lys853Met) | |
| 5 | g.78039159T>C | CA360332096 | AP3B1 | c.2546A>G (p.Lys849Arg) n.493A>G c.2586A>G (n.2586A>G) c.1892A>G (p.Lys631Arg) c.*2455A>G (n.*2455A>G) c.2636A>G (p.Lys879Arg) c.2687A>G (p.Lys896Arg) n.408A>G c.2693A>G (p.Lys898Arg) n.2851A>G n.345A>G c.*218A>G (n.*218A>G) c.2513A>G (p.Lys838Arg) c.2558A>G (p.Lys853Arg) | |
| 5 | g.78039159T>G | CA360332095 | AP3B1 | c.2546A>C (p.Lys849Thr) n.493A>C c.2586A>C (n.2586A>C) c.1892A>C (p.Lys631Thr) c.*2455A>C (n.*2455A>C) c.2636A>C (p.Lys879Thr) c.2687A>C (p.Lys896Thr) n.408A>C c.2693A>C (p.Lys898Thr) n.2851A>C n.345A>C c.*218A>C (n.*218A>C) c.2513A>C (p.Lys838Thr) c.2558A>C (p.Lys853Thr) | |
| 5 | g.78039160T>A | CA360332097 | AP3B1 | c.2545A>T (p.Lys849Ter) n.492A>T c.2585A>T (n.2585A>T) c.1891A>T (p.Lys631Ter) c.*2454A>T (n.*2454A>T) c.2635A>T (p.Lys879Ter) c.2686A>T (p.Lys896Ter) n.407A>T c.2692A>T (p.Lys898Ter) n.2850A>T n.344A>T c.*217A>T (n.*217A>T) c.2512A>T (p.Lys838Ter) c.2557A>T (p.Lys853Ter) | |
| 5 | g.78039160T>C | CA360332098 | AP3B1 | c.2545A>G (p.Lys849Glu) n.492A>G c.2585A>G (n.2585A>G) c.1891A>G (p.Lys631Glu) c.*2454A>G (n.*2454A>G) c.2635A>G (p.Lys879Glu) c.2686A>G (p.Lys896Glu) n.407A>G c.2692A>G (p.Lys898Glu) n.2850A>G n.344A>G c.*217A>G (n.*217A>G) c.2512A>G (p.Lys838Glu) c.2557A>G (p.Lys853Glu) | |
| 5 | g.78039160T>G | CA360332099 | AP3B1 | c.2545A>C (p.Lys849Gln) n.492A>C c.2585A>C (n.2585A>C) c.1891A>C (p.Lys631Gln) c.*2454A>C (n.*2454A>C) c.2635A>C (p.Lys879Gln) c.2686A>C (p.Lys896Gln) n.407A>C c.2692A>C (p.Lys898Gln) n.2850A>C n.344A>C c.*217A>C (n.*217A>C) c.2512A>C (p.Lys838Gln) c.2557A>C (p.Lys853Gln) | |
| 5 | g.78039161A>C | CA360332100 | AP3B1 | c.2544T>G (p.Asp848Glu) n.491T>G c.2584T>G (n.2584T>G) c.1890T>G (p.Asp630Glu) c.*2453T>G (n.*2453T>G) c.2634T>G (p.Asp878Glu) c.2685T>G (p.Asp895Glu) n.406T>G c.2691T>G (p.Asp897Glu) n.2849T>G n.343T>G c.*216T>G (n.*216T>G) c.2511T>G (p.Asp837Glu) c.2556T>G (p.Asp852Glu) | |
| 5 | g.78039161A>G | CA445400268 | AP3B1 | c.2544T>C (p.Asp848=) n.491T>C c.2584T>C (n.2584T>C) c.1890T>C (p.Asp630=) c.*2453T>C (n.*2453T>C) c.2634T>C (p.Asp878=) c.2685T>C (p.Asp895=) n.406T>C c.2691T>C (p.Asp897=) n.2849T>C n.343T>C c.*216T>C (n.*216T>C) c.2511T>C (p.Asp837=) c.2556T>C (p.Asp852=) | |
| 5 | g.78039161A>T | CA360332101 | AP3B1 | c.2544T>A (p.Asp848Glu) n.491T>A c.2584T>A (n.2584T>A) c.1890T>A (p.Asp630Glu) c.*2453T>A (n.*2453T>A) c.2634T>A (p.Asp878Glu) c.2685T>A (p.Asp895Glu) n.406T>A c.2691T>A (p.Asp897Glu) n.2849T>A n.343T>A c.*216T>A (n.*216T>A) c.2511T>A (p.Asp837Glu) c.2556T>A (p.Asp852Glu) | |
| 5 | g.78039162T>A | CA3316700 | AP3B1 | c.2543A>T (p.Asp848Val) n.490A>T c.2583A>T (p.Ter861Cys) c.1889A>T (p.Asp630Val) c.*2452A>T (n.*2452A>T) c.2633A>T (p.Asp878Val) c.2684A>T (p.Asp895Val) n.405A>T c.2690A>T (p.Asp897Val) n.2848A>T n.342A>T c.*215A>T (n.*215A>T) c.2510A>T (p.Asp837Val) c.2555A>T (p.Asp852Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78039162T>C | CA360332102 | AP3B1 | c.2543A>G (p.Asp848Gly) n.490A>G c.2583A>G (p.Ter861Trp) c.1889A>G (p.Asp630Gly) c.*2452A>G (n.*2452A>G) c.2633A>G (p.Asp878Gly) c.2684A>G (p.Asp895Gly) n.405A>G c.2690A>G (p.Asp897Gly) n.2848A>G n.342A>G c.*215A>G (n.*215A>G) c.2510A>G (p.Asp837Gly) c.2555A>G (p.Asp852Gly) | dbSNP |
| 5 | g.78039162T>G | CA360332103 | AP3B1 | c.2543A>C (p.Asp848Ala) n.490A>C c.2583A>C (p.Ter861Cys) c.1889A>C (p.Asp630Ala) c.*2452A>C (n.*2452A>C) c.2633A>C (p.Asp878Ala) c.2684A>C (p.Asp895Ala) n.405A>C c.2690A>C (p.Asp897Ala) n.2848A>C n.342A>C c.*215A>C (n.*215A>C) c.2510A>C (p.Asp837Ala) c.2555A>C (p.Asp852Ala) | |
| 5 | g.78039162T= | CA1557269268 | AP3B1 | c.2543A= (p.Asp848=) n.490A= c.2583A= (p.Ter861=) c.1889A= (p.Asp630=) c.*2452A= (n.*2452A=) c.2633A= (p.Asp878=) c.2684A= (p.Asp895=) n.405A= c.2690A= (p.Asp897=) n.2848A= n.342A= c.*215A= (n.*215A=) c.2510A= (p.Asp837=) c.2555A= (p.Asp852=) | |
| 5 | g.78039162_78039163delinsAA | CA2580073459 | AP3B1 | c.2542_2543delinsTT (p.Asp848Phe) n.489_490delinsTT c.2582_2583delinsTT (p.Ter861Phe) c.1888_1889delinsTT (p.Asp630Phe) c.*2451_*2452delinsTT (n.*2451_*2452delinsTT) c.2632_2633delinsTT (p.Asp878Phe) c.2683_2684delinsTT (p.Asp895Phe) n.404_405delinsTT c.2689_2690delinsTT (p.Asp897Phe) n.2847_2848delinsTT n.341_342delinsTT c.*214_*215delinsTT (n.*214_*215delinsTT) c.2509_2510delinsTT (p.Asp837Phe) c.2554_2555delinsTT (p.Asp852Phe) | ClinVar |
| 5 | g.78039163C>A | CA3316701 | AP3B1 | c.2542G>T (p.Asp848Tyr) n.489G>T c.2582G>T (p.Ter861Leu) c.1888G>T (p.Asp630Tyr) c.*2451G>T (n.*2451G>T) c.2632G>T (p.Asp878Tyr) c.2683G>T (p.Asp895Tyr) n.404G>T c.2689G>T (p.Asp897Tyr) n.2847G>T n.341G>T c.*214G>T (n.*214G>T) c.2509G>T (p.Asp837Tyr) c.2554G>T (p.Asp852Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78039163C= | CA1557269273 | AP3B1 | c.2542G= (p.Asp848=) n.489G= c.2582G= (p.Ter861=) c.1888G= (p.Asp630=) c.*2451G= (n.*2451G=) c.2632G= (p.Asp878=) c.2683G= (p.Asp895=) n.404G= c.2689G= (p.Asp897=) n.2847G= n.341G= c.*214G= (n.*214G=) c.2509G= (p.Asp837=) c.2554G= (p.Asp852=) | |
| 5 | g.78039163C>G | CA360332104 | AP3B1 | c.2542G>C (p.Asp848His) n.489G>C c.2582G>C (p.Ter861Ser) c.1888G>C (p.Asp630His) c.*2451G>C (n.*2451G>C) c.2632G>C (p.Asp878His) c.2683G>C (p.Asp895His) n.404G>C c.2689G>C (p.Asp897His) n.2847G>C n.341G>C c.*214G>C (n.*214G>C) c.2509G>C (p.Asp837His) c.2554G>C (p.Asp852His) | COSMIC |
| 5 | g.78039163C>T | CA360332105 | AP3B1 | c.2542G>A (p.Asp848Asn) n.489G>A c.2582G>A (p.Ter861=) c.1888G>A (p.Asp630Asn) c.*2451G>A (n.*2451G>A) c.2632G>A (p.Asp878Asn) c.2683G>A (p.Asp895Asn) n.404G>A c.2689G>A (p.Asp897Asn) n.2847G>A n.341G>A c.*214G>A (n.*214G>A) c.2509G>A (p.Asp837Asn) c.2554G>A (p.Asp852Asn) |