Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.78039141_78039159delCA2499217907AP3B1c.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
5g.78039150G>ACA360332072AP3B1c.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
5g.78039150G>CCA354052AP3B1c.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
5g.78039150G=CA1557269251AP3B1c.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=
5g.78039150G>TCA360332073AP3B1c.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
5g.78039151A>CCA360332074AP3B1c.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)
5g.78039151A>GCA360332075AP3B1c.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)
5g.78039151A>TCA360332076AP3B1c.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)
5g.78039152G>ACA3316698AP3B1c.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
5g.78039152G>CCA445400253AP3B1c.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=)
5g.78039152G=CA1557269256AP3B1c.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=)
5g.78039152G>TCA445400254AP3B1c.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=)
5g.78039153A>CCA360332078AP3B1c.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)
5g.78039153A>GCA360332079AP3B1c.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)
5g.78039153A>TCA360332077AP3B1c.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)
5g.78039154C>ACA360332082AP3B1c.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)
5g.78039154C>GCA360332080AP3B1c.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)
5g.78039154C>TCA360332081AP3B1c.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)
5g.78039155C>ACA360332083AP3B1c.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)
5g.78039155C>GCA360332084AP3B1c.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)
5g.78039155C>TCA360332085AP3B1c.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)
5g.78039156A=CA1557269262AP3B1c.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=)
5g.78039156A>CCA360332088AP3B1c.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)
5g.78039156A>GCA360332087AP3B1c.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)
5g.78039156A>TCA360332086AP3B1c.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)
5g.78039156_78039157insGATCA3316699AP3B1c.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
5g.78039157T>ACA360332089AP3B1c.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
5g.78039157T>CCA360332090AP3B1c.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
5g.78039157T>GCA360332091AP3B1c.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)
5g.78039158C>ACA360332092AP3B1c.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)
5g.78039158C>GCA360332093AP3B1c.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)
5g.78039158C>TCA445400264AP3B1c.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=)
5g.78039159T>ACA360332094AP3B1c.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)
5g.78039159T>CCA360332096AP3B1c.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)
5g.78039159T>GCA360332095AP3B1c.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)
5g.78039160T>ACA360332097AP3B1c.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)
5g.78039160T>CCA360332098AP3B1c.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)
5g.78039160T>GCA360332099AP3B1c.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)
5g.78039161A>CCA360332100AP3B1c.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)
5g.78039161A>GCA445400268AP3B1c.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=)
5g.78039161A>TCA360332101AP3B1c.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)
5g.78039162T>ACA3316700AP3B1c.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
5g.78039162T>CCA360332102AP3B1c.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
5g.78039162T>GCA360332103AP3B1c.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)
5g.78039162T=CA1557269268AP3B1c.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=)
5g.78039162_78039163delinsAACA2580073459AP3B1c.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
5g.78039163C>ACA3316701AP3B1c.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
5g.78039163C=CA1557269273AP3B1c.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=)
5g.78039163C>GCA360332104AP3B1c.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
5g.78039163C>TCA360332105AP3B1c.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)
5g.78039164A>CCA445400273AP3B1c.2541T>G (p.Gly847=)
n.488T>G
c.2581T>G (p.Ter861Gly)
c.1887T>G (p.Gly629=)
c.*2450T>G (n.*2450T>G)
c.2631T>G (p.Gly877=)
c.2682T>G (p.Gly894=)
n.403T>G
c.2688T>G (p.Gly896=)
n.2846T>G
n.340T>G
c.*213T>G (n.*213T>G)
c.2508T>G (p.Gly836=)
c.2553T>G (p.Gly851=)
5g.78039164A>GCA445400274AP3B1c.2541T>C (p.Gly847=)
n.488T>C
c.2581T>C (p.Ter861Arg)
c.1887T>C (p.Gly629=)
c.*2450T>C (n.*2450T>C)
c.2631T>C (p.Gly877=)
c.2682T>C (p.Gly894=)
n.403T>C
c.2688T>C (p.Gly896=)
n.2846T>C
n.340T>C
c.*213T>C (n.*213T>C)
c.2508T>C (p.Gly836=)
c.2553T>C (p.Gly851=)
5g.78039164A>TCA445400275AP3B1c.2541T>A (p.Gly847=)
n.488T>A
c.2581T>A (p.Ter861Arg)
c.1887T>A (p.Gly629=)
c.*2450T>A (n.*2450T>A)
c.2631T>A (p.Gly877=)
c.2682T>A (p.Gly894=)
n.403T>A
c.2688T>A (p.Gly896=)
n.2846T>A
n.340T>A
c.*213T>A (n.*213T>A)
c.2508T>A (p.Gly836=)
c.2553T>A (p.Gly851=)
5g.78039165C>ACA360332108AP3B1c.2540G>T (p.Gly847Val)
n.487G>T
c.2580G>T (p.Trp860Cys)
c.1886G>T (p.Gly629Val)
c.*2449G>T (n.*2449G>T)
c.2630G>T (p.Gly877Val)
c.2681G>T (p.Gly894Val)
n.402G>T
c.2687G>T (p.Gly896Val)
n.2845G>T
n.339G>T
c.*212G>T (n.*212G>T)
c.2507G>T (p.Gly836Val)
c.2552G>T (p.Gly851Val)
5g.78039165C>GCA360332107AP3B1c.2540G>C (p.Gly847Ala)
n.487G>C
c.2580G>C (p.Trp860Cys)
c.1886G>C (p.Gly629Ala)
c.*2449G>C (n.*2449G>C)
c.2630G>C (p.Gly877Ala)
c.2681G>C (p.Gly894Ala)
n.402G>C
c.2687G>C (p.Gly896Ala)
n.2845G>C
n.339G>C
c.*212G>C (n.*212G>C)
c.2507G>C (p.Gly836Ala)
c.2552G>C (p.Gly851Ala)
5g.78039165C>TCA360332106AP3B1c.2540G>A (p.Gly847Asp)
n.487G>A
c.2580G>A (p.Trp860Ter)
c.1886G>A (p.Gly629Asp)
c.*2449G>A (n.*2449G>A)
c.2630G>A (p.Gly877Asp)
c.2681G>A (p.Gly894Asp)
n.402G>A
c.2687G>A (p.Gly896Asp)
n.2845G>A
n.339G>A
c.*212G>A (n.*212G>A)
c.2507G>A (p.Gly836Asp)
c.2552G>A (p.Gly851Asp)
 gnomAD v4
5g.78039166C>ACA360332109AP3B1c.2539G>T (p.Gly847Cys)
n.486G>T
c.2579G>T (p.Trp860Leu)
c.1885G>T (p.Gly629Cys)
c.*2448G>T (n.*2448G>T)
c.2629G>T (p.Gly877Cys)
c.2680G>T (p.Gly894Cys)
n.401G>T
c.2686G>T (p.Gly896Cys)
n.2844G>T
n.338G>T
c.*211G>T (n.*211G>T)
c.2506G>T (p.Gly836Cys)
c.2551G>T (p.Gly851Cys)
5g.78039166C=CA1557269276AP3B1c.2539G= (p.Gly847=)
n.486G=
c.2579G= (p.Trp860=)
c.1885G= (p.Gly629=)
c.*2448G= (n.*2448G=)
c.2629G= (p.Gly877=)
c.2680G= (p.Gly894=)
n.401G=
c.2686G= (p.Gly896=)
n.2844G=
n.338G=
c.*211G= (n.*211G=)
c.2506G= (p.Gly836=)
c.2551G= (p.Gly851=)
5g.78039166C>GCA360332110AP3B1c.2539G>C (p.Gly847Arg)
n.486G>C
c.2579G>C (p.Trp860Ser)
c.1885G>C (p.Gly629Arg)
c.*2448G>C (n.*2448G>C)
c.2629G>C (p.Gly877Arg)
c.2680G>C (p.Gly894Arg)
n.401G>C
c.2686G>C (p.Gly896Arg)
n.2844G>C
n.338G>C
c.*211G>C (n.*211G>C)
c.2506G>C (p.Gly836Arg)
c.2551G>C (p.Gly851Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.78039166C>TCA360332111AP3B1c.2539G>A (p.Gly847Ser)
n.486G>A
c.2579G>A (p.Trp860Ter)
c.1885G>A (p.Gly629Ser)
c.*2448G>A (n.*2448G>A)
c.2629G>A (p.Gly877Ser)
c.2680G>A (p.Gly894Ser)
n.401G>A
c.2686G>A (p.Gly896Ser)
n.2844G>A
n.338G>A
c.*211G>A (n.*211G>A)
c.2506G>A (p.Gly836Ser)
c.2551G>A (p.Gly851Ser)
5g.78039167A>CCA360332112AP3B1c.2538T>G (p.Phe846Leu)
n.485T>G
c.2578T>G (p.Trp860Gly)
c.1884T>G (p.Phe628Leu)
c.*2447T>G (n.*2447T>G)
c.2628T>G (p.Phe876Leu)
c.2679T>G (p.Phe893Leu)
n.400T>G
c.2685T>G (p.Phe895Leu)
n.2843T>G
n.337T>G
c.*210T>G (n.*210T>G)
c.2505T>G (p.Phe835Leu)
c.2550T>G (p.Phe850Leu)
5g.78039167A>GCA445400283AP3B1c.2538T>C (p.Phe846=)
n.485T>C
c.2578T>C (p.Trp860Arg)
c.1884T>C (p.Phe628=)
c.*2447T>C (n.*2447T>C)
c.2628T>C (p.Phe876=)
c.2679T>C (p.Phe893=)
n.400T>C
c.2685T>C (p.Phe895=)
n.2843T>C
n.337T>C
c.*210T>C (n.*210T>C)
c.2505T>C (p.Phe835=)
c.2550T>C (p.Phe850=)
5g.78039167A>TCA360332113AP3B1c.2538T>A (p.Phe846Leu)
n.485T>A
c.2578T>A (p.Trp860Arg)
c.1884T>A (p.Phe628Leu)
c.*2447T>A (n.*2447T>A)
c.2628T>A (p.Phe876Leu)
c.2679T>A (p.Phe893Leu)
n.400T>A
c.2685T>A (p.Phe895Leu)
n.2843T>A
n.337T>A
c.*210T>A (n.*210T>A)
c.2505T>A (p.Phe835Leu)
c.2550T>A (p.Phe850Leu)
5g.78039168A>CCA360332114AP3B1c.2537T>G (p.Phe846Cys)
n.484T>G
c.2577T>G (p.Phe859Leu)
c.1883T>G (p.Phe628Cys)
c.*2446T>G (n.*2446T>G)
c.2627T>G (p.Phe876Cys)
c.2678T>G (p.Phe893Cys)
n.399T>G
c.2684T>G (p.Phe895Cys)
n.2842T>G
n.336T>G
c.*209T>G (n.*209T>G)
c.2504T>G (p.Phe835Cys)
c.2549T>G (p.Phe850Cys)
5g.78039168A>GCA360332115AP3B1c.2537T>C (p.Phe846Ser)
n.484T>C
c.2577T>C (p.Phe859=)
c.1883T>C (p.Phe628Ser)
c.*2446T>C (n.*2446T>C)
c.2627T>C (p.Phe876Ser)
c.2678T>C (p.Phe893Ser)
n.399T>C
c.2684T>C (p.Phe895Ser)
n.2842T>C
n.336T>C
c.*209T>C (n.*209T>C)
c.2504T>C (p.Phe835Ser)
c.2549T>C (p.Phe850Ser)
5g.78039168A>TCA360332116AP3B1c.2537T>A (p.Phe846Tyr)
n.484T>A
c.2577T>A (p.Phe859Leu)
c.1883T>A (p.Phe628Tyr)
c.*2446T>A (n.*2446T>A)
c.2627T>A (p.Phe876Tyr)
c.2678T>A (p.Phe893Tyr)
n.399T>A
c.2684T>A (p.Phe895Tyr)
n.2842T>A
n.336T>A
c.*209T>A (n.*209T>A)
c.2504T>A (p.Phe835Tyr)
c.2549T>A (p.Phe850Tyr)
5g.78039169A=CA1557269278AP3B1c.2536T= (p.Phe846=)
n.483T=
c.2576T= (p.Phe859=)
c.1882T= (p.Phe628=)
c.*2445T= (n.*2445T=)
c.2626T= (p.Phe876=)
c.2677T= (p.Phe893=)
n.398T=
c.2683T= (p.Phe895=)
n.2841T=
n.335T=
c.*208T= (n.*208T=)
c.2503T= (p.Phe835=)
c.2548T= (p.Phe850=)
5g.78039169A>CCA360332117AP3B1c.2536T>G (p.Phe846Val)
n.483T>G
c.2576T>G (p.Phe859Cys)
c.1882T>G (p.Phe628Val)
c.*2445T>G (n.*2445T>G)
c.2626T>G (p.Phe876Val)
c.2677T>G (p.Phe893Val)
n.398T>G
c.2683T>G (p.Phe895Val)
n.2841T>G
n.335T>G
c.*208T>G (n.*208T>G)
c.2503T>G (p.Phe835Val)
c.2548T>G (p.Phe850Val)
5g.78039169A>GCA360332119AP3B1c.2536T>C (p.Phe846Leu)
n.483T>C
c.2576T>C (p.Phe859Ser)
c.1882T>C (p.Phe628Leu)
c.*2445T>C (n.*2445T>C)
c.2626T>C (p.Phe876Leu)
c.2677T>C (p.Phe893Leu)
n.398T>C
c.2683T>C (p.Phe895Leu)
n.2841T>C
n.335T>C
c.*208T>C (n.*208T>C)
c.2503T>C (p.Phe835Leu)
c.2548T>C (p.Phe850Leu)
5g.78039169A>TCA360332118AP3B1c.2536T>A (p.Phe846Ile)
n.483T>A
c.2576T>A (p.Phe859Tyr)
c.1882T>A (p.Phe628Ile)
c.*2445T>A (n.*2445T>A)
c.2626T>A (p.Phe876Ile)
c.2677T>A (p.Phe893Ile)
n.398T>A
c.2683T>A (p.Phe895Ile)
n.2841T>A
n.335T>A
c.*208T>A (n.*208T>A)
c.2503T>A (p.Phe835Ile)
c.2548T>A (p.Phe850Ile)
 ClinVar dbSNP
5g.78039170A>CCA360332120AP3B1c.2535T>G (p.Ile845Met)
n.482T>G
c.2575T>G (p.Phe859Val)
c.1881T>G (p.Ile627Met)
c.*2444T>G (n.*2444T>G)
c.2625T>G (p.Ile875Met)
c.2676T>G (p.Ile892Met)
n.397T>G
c.2682T>G (p.Ile894Met)
n.2840T>G
n.334T>G
c.*207T>G (n.*207T>G)
c.2502T>G (p.Ile834Met)
c.2547T>G (p.Ile849Met)
5g.78039170A>GCA445400288AP3B1c.2535T>C (p.Ile845=)
n.482T>C
c.2575T>C (p.Phe859Leu)
c.1881T>C (p.Ile627=)
c.*2444T>C (n.*2444T>C)
c.2625T>C (p.Ile875=)
c.2676T>C (p.Ile892=)
n.397T>C
c.2682T>C (p.Ile894=)
n.2840T>C
n.334T>C
c.*207T>C (n.*207T>C)
c.2502T>C (p.Ile834=)
c.2547T>C (p.Ile849=)
5g.78039170A>TCA445400290AP3B1c.2535T>A (p.Ile845=)
n.482T>A
c.2575T>A (p.Phe859Ile)
c.1881T>A (p.Ile627=)
c.*2444T>A (n.*2444T>A)
c.2625T>A (p.Ile875=)
c.2676T>A (p.Ile892=)
n.397T>A
c.2682T>A (p.Ile894=)
n.2840T>A
n.334T>A
c.*207T>A (n.*207T>A)
c.2502T>A (p.Ile834=)
c.2547T>A (p.Ile849=)
5g.78039171A>CCA360332121AP3B1c.2534T>G (p.Ile845Ser)
n.481T>G
c.2574T>G (p.His858Gln)
c.1880T>G (p.Ile627Ser)
c.*2443T>G (n.*2443T>G)
c.2624T>G (p.Ile875Ser)
c.2675T>G (p.Ile892Ser)
n.396T>G
c.2681T>G (p.Ile894Ser)
n.2839T>G
n.333T>G
c.*206T>G (n.*206T>G)
c.2501T>G (p.Ile834Ser)
c.2546T>G (p.Ile849Ser)
 gnomAD v4
5g.78039171A>GCA360332122AP3B1c.2534T>C (p.Ile845Thr)
n.481T>C
c.2574T>C (p.His858=)
c.1880T>C (p.Ile627Thr)
c.*2443T>C (n.*2443T>C)
c.2624T>C (p.Ile875Thr)
c.2675T>C (p.Ile892Thr)
n.396T>C
c.2681T>C (p.Ile894Thr)
n.2839T>C
n.333T>C
c.*206T>C (n.*206T>C)
c.2501T>C (p.Ile834Thr)
c.2546T>C (p.Ile849Thr)
5g.78039171A>TCA360332123AP3B1c.2534T>A (p.Ile845Asn)
n.481T>A
c.2574T>A (p.His858Gln)
c.1880T>A (p.Ile627Asn)
c.*2443T>A (n.*2443T>A)
c.2624T>A (p.Ile875Asn)
c.2675T>A (p.Ile892Asn)
n.396T>A
c.2681T>A (p.Ile894Asn)
n.2839T>A
n.333T>A
c.*206T>A (n.*206T>A)
c.2501T>A (p.Ile834Asn)
c.2546T>A (p.Ile849Asn)
5g.78039172T>ACA360332124AP3B1c.2533A>T (p.Ile845Phe)
n.480A>T
c.2573A>T (p.His858Leu)
c.1879A>T (p.Ile627Phe)
c.*2442A>T (n.*2442A>T)
c.2623A>T (p.Ile875Phe)
c.2674A>T (p.Ile892Phe)
n.395A>T
c.2680A>T (p.Ile894Phe)
n.2838A>T
n.332A>T
c.*205A>T (n.*205A>T)
c.2500A>T (p.Ile834Phe)
c.2545A>T (p.Ile849Phe)
5g.78039172T>CCA360332126AP3B1c.2533A>G (p.Ile845Val)
n.480A>G
c.2573A>G (p.His858Arg)
c.1879A>G (p.Ile627Val)
c.*2442A>G (n.*2442A>G)
c.2623A>G (p.Ile875Val)
c.2674A>G (p.Ile892Val)
n.395A>G
c.2680A>G (p.Ile894Val)
n.2838A>G
n.332A>G
c.*205A>G (n.*205A>G)
c.2500A>G (p.Ile834Val)
c.2545A>G (p.Ile849Val)
 dbSNP gnomAD v4
5g.78039172T>GCA360332125AP3B1c.2533A>C (p.Ile845Leu)
n.480A>C
c.2573A>C (p.His858Pro)
c.1879A>C (p.Ile627Leu)
c.*2442A>C (n.*2442A>C)
c.2623A>C (p.Ile875Leu)
c.2674A>C (p.Ile892Leu)
n.395A>C
c.2680A>C (p.Ile894Leu)
n.2838A>C
n.332A>C
c.*205A>C (n.*205A>C)
c.2500A>C (p.Ile834Leu)
c.2545A>C (p.Ile849Leu)
5g.78039172T=CA1557269281AP3B1c.2533A= (p.Ile845=)
n.480A=
c.2573A= (p.His858=)
c.1879A= (p.Ile627=)
c.*2442A= (n.*2442A=)
c.2623A= (p.Ile875=)
c.2674A= (p.Ile892=)
n.395A=
c.2680A= (p.Ile894=)
n.2838A=
n.332A=
c.*205A= (n.*205A=)
c.2500A= (p.Ile834=)
c.2545A= (p.Ile849=)
5g.78039173G>ACA445400294AP3B1c.2532C>T (p.Cys844=)
n.479C>T
c.2572C>T (p.His858Tyr)
c.1878C>T (p.Cys626=)
c.*2441C>T (n.*2441C>T)
c.2622C>T (p.Cys874=)
c.2673C>T (p.Cys891=)
n.394C>T
c.2679C>T (p.Cys893=)
n.2837C>T
n.331C>T
c.*204C>T (n.*204C>T)
c.2499C>T (p.Cys833=)
c.2544C>T (p.Cys848=)
5g.78039173G>CCA360332127AP3B1c.2532C>G (p.Cys844Trp)
n.479C>G
c.2572C>G (p.His858Asp)
c.1878C>G (p.Cys626Trp)
c.*2441C>G (n.*2441C>G)
c.2622C>G (p.Cys874Trp)
c.2673C>G (p.Cys891Trp)
n.394C>G
c.2679C>G (p.Cys893Trp)
n.2837C>G
n.331C>G
c.*204C>G (n.*204C>G)
c.2499C>G (p.Cys833Trp)
c.2544C>G (p.Cys848Trp)
5g.78039173G>TCA360332128AP3B1c.2532C>A (p.Cys844Ter)
n.479C>A
c.2572C>A (p.His858Asn)
c.1878C>A (p.Cys626Ter)
c.*2441C>A (n.*2441C>A)
c.2622C>A (p.Cys874Ter)
c.2673C>A (p.Cys891Ter)
n.394C>A
c.2679C>A (p.Cys893Ter)
n.2837C>A
n.331C>A
c.*204C>A (n.*204C>A)
c.2499C>A (p.Cys833Ter)
c.2544C>A (p.Cys848Ter)
5g.78039175_78039179delCA2697547224AP3B1c.2528_2532del (p.Pro843HisfsTer4)
n.475_479del
c.2568_2572del (p.Leu857PhefsTer11)
c.1874_1878del (p.Pro625HisfsTer4)
c.*2437_*2441del (n.*2437_*2441del)
c.2618_2622del (p.Pro873HisfsTer4)
c.2669_2673del (p.Pro890HisfsTer4)
n.390_394del
c.2675_2679del (p.Pro892HisfsTer4)
n.2833_2837del
n.327_331del
c.*200_*204del (n.*200_*204del)
c.2495_2499del (p.Pro832HisfsTer4)
c.2540_2544del (p.Pro847HisfsTer4)
 ClinVar
5g.78039174C>ACA360332129AP3B1c.2531G>T (p.Cys844Phe)
n.478G>T
c.2571G>T (p.Leu857Phe)
c.1877G>T (p.Cys626Phe)
c.*2440G>T (n.*2440G>T)
c.2621G>T (p.Cys874Phe)
c.2672G>T (p.Cys891Phe)
n.393G>T
c.2678G>T (p.Cys893Phe)
n.2836G>T
n.330G>T
c.*203G>T (n.*203G>T)
c.2498G>T (p.Cys833Phe)
c.2543G>T (p.Cys848Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.78039174C=CA1557269284AP3B1c.2531G= (p.Cys844=)
n.478G=
c.2571G= (p.Leu857=)
c.1877G= (p.Cys626=)
c.*2440G= (n.*2440G=)
c.2621G= (p.Cys874=)
c.2672G= (p.Cys891=)
n.393G=
c.2678G= (p.Cys893=)
n.2836G=
n.330G=
c.*203G= (n.*203G=)
c.2498G= (p.Cys833=)
c.2543G= (p.Cys848=)
5g.78039174C>GCA360332130AP3B1c.2531G>C (p.Cys844Ser)
n.478G>C
c.2571G>C (p.Leu857Phe)
c.1877G>C (p.Cys626Ser)
c.*2440G>C (n.*2440G>C)
c.2621G>C (p.Cys874Ser)
c.2672G>C (p.Cys891Ser)
n.393G>C
c.2678G>C (p.Cys893Ser)
n.2836G>C
n.330G>C
c.*203G>C (n.*203G>C)
c.2498G>C (p.Cys833Ser)
c.2543G>C (p.Cys848Ser)
5g.78039174C>TCA360332131AP3B1c.2531G>A (p.Cys844Tyr)
n.478G>A
c.2571G>A (p.Leu857=)
c.1877G>A (p.Cys626Tyr)
c.*2440G>A (n.*2440G>A)
c.2621G>A (p.Cys874Tyr)
c.2672G>A (p.Cys891Tyr)
n.393G>A
c.2678G>A (p.Cys893Tyr)
n.2836G>A
n.330G>A
c.*203G>A (n.*203G>A)
c.2498G>A (p.Cys833Tyr)
c.2543G>A (p.Cys848Tyr)
5g.78039175A>CCA360332132AP3B1c.2530T>G (p.Cys844Gly)
n.477T>G
c.2570T>G (p.Leu857Trp)
c.1876T>G (p.Cys626Gly)
c.*2439T>G (n.*2439T>G)
c.2620T>G (p.Cys874Gly)
c.2671T>G (p.Cys891Gly)
n.392T>G
c.2677T>G (p.Cys893Gly)
n.2835T>G
n.329T>G
c.*202T>G (n.*202T>G)
c.2497T>G (p.Cys833Gly)
c.2542T>G (p.Cys848Gly)
5g.78039175A>GCA360332133AP3B1c.2530T>C (p.Cys844Arg)
n.477T>C
c.2570T>C (p.Leu857Ser)
c.1876T>C (p.Cys626Arg)
c.*2439T>C (n.*2439T>C)
c.2620T>C (p.Cys874Arg)
c.2671T>C (p.Cys891Arg)
n.392T>C
c.2677T>C (p.Cys893Arg)
n.2835T>C
n.329T>C
c.*202T>C (n.*202T>C)
c.2497T>C (p.Cys833Arg)
c.2542T>C (p.Cys848Arg)
5g.78039175A>TCA360332134AP3B1c.2530T>A (p.Cys844Ser)
n.477T>A
c.2570T>A (p.Leu857Ter)
c.1876T>A (p.Cys626Ser)
c.*2439T>A (n.*2439T>A)
c.2620T>A (p.Cys874Ser)
c.2671T>A (p.Cys891Ser)
n.392T>A
c.2677T>A (p.Cys893Ser)
n.2835T>A
n.329T>A
c.*202T>A (n.*202T>A)
c.2497T>A (p.Cys833Ser)
c.2542T>A (p.Cys848Ser)
5g.78039176A>CCA445400300AP3B1c.2529T>G (p.Pro843=)
n.476T>G
c.2569T>G (p.Leu857Val)
c.1875T>G (p.Pro625=)
c.*2438T>G (n.*2438T>G)
c.2619T>G (p.Pro873=)
c.2670T>G (p.Pro890=)
n.391T>G
c.2676T>G (p.Pro892=)
n.2834T>G
n.328T>G
c.*201T>G (n.*201T>G)
c.2496T>G (p.Pro832=)
c.2541T>G (p.Pro847=)
5g.78039176A>GCA445400299AP3B1c.2529T>C (p.Pro843=)
n.476T>C
c.2569T>C (p.Leu857=)
c.1875T>C (p.Pro625=)
c.*2438T>C (n.*2438T>C)
c.2619T>C (p.Pro873=)
c.2670T>C (p.Pro890=)
n.391T>C
c.2676T>C (p.Pro892=)
n.2834T>C
n.328T>C
c.*201T>C (n.*201T>C)
c.2496T>C (p.Pro832=)
c.2541T>C (p.Pro847=)
5g.78039176A>TCA445400298AP3B1c.2529T>A (p.Pro843=)
n.476T>A
c.2569T>A (p.Leu857Met)
c.1875T>A (p.Pro625=)
c.*2438T>A (n.*2438T>A)
c.2619T>A (p.Pro873=)
c.2670T>A (p.Pro890=)
n.391T>A
c.2676T>A (p.Pro892=)
n.2834T>A
n.328T>A
c.*201T>A (n.*201T>A)
c.2496T>A (p.Pro832=)
c.2541T>A (p.Pro847=)
5g.78039177G>ACA360332135AP3B1c.2528C>T (p.Pro843Leu)
n.475C>T
c.2568C>T (p.Ala856=)
c.1874C>T (p.Pro625Leu)
c.*2437C>T (n.*2437C>T)
c.2618C>T (p.Pro873Leu)
c.2669C>T (p.Pro890Leu)
n.390C>T
c.2675C>T (p.Pro892Leu)
n.2833C>T
n.327C>T
c.*200C>T (n.*200C>T)
c.2495C>T (p.Pro832Leu)
c.2540C>T (p.Pro847Leu)
 dbSNP
5g.78039177G>CCA360332136AP3B1c.2528C>G (p.Pro843Arg)
n.475C>G
c.2568C>G (p.Ala856=)
c.1874C>G (p.Pro625Arg)
c.*2437C>G (n.*2437C>G)
c.2618C>G (p.Pro873Arg)
c.2669C>G (p.Pro890Arg)
n.390C>G
c.2675C>G (p.Pro892Arg)
n.2833C>G
n.327C>G
c.*200C>G (n.*200C>G)
c.2495C>G (p.Pro832Arg)
c.2540C>G (p.Pro847Arg)
 dbSNP gnomAD v3 gnomAD v4
5g.78039177G=CA1557269288AP3B1c.2528C= (p.Pro843=)
n.475C=
c.2568C= (p.Ala856=)
c.1874C= (p.Pro625=)
c.*2437C= (n.*2437C=)
c.2618C= (p.Pro873=)
c.2669C= (p.Pro890=)
n.390C=
c.2675C= (p.Pro892=)
n.2833C=
n.327C=
c.*200C= (n.*200C=)
c.2495C= (p.Pro832=)
c.2540C= (p.Pro847=)
5g.78039177G>TCA360332137AP3B1c.2528C>A (p.Pro843His)
n.475C>A
c.2568C>A (p.Ala856=)
c.1874C>A (p.Pro625His)
c.*2437C>A (n.*2437C>A)
c.2618C>A (p.Pro873His)
c.2669C>A (p.Pro890His)
n.390C>A
c.2675C>A (p.Pro892His)
n.2833C>A
n.327C>A
c.*200C>A (n.*200C>A)
c.2495C>A (p.Pro832His)
c.2540C>A (p.Pro847His)
5g.78039178G>ACA360332138AP3B1c.2527C>T (p.Pro843Ser)
n.474C>T
c.2567C>T (p.Ala856Val)
c.1873C>T (p.Pro625Ser)
c.*2436C>T (n.*2436C>T)
c.2617C>T (p.Pro873Ser)
c.2668C>T (p.Pro890Ser)
n.389C>T
c.2674C>T (p.Pro892Ser)
n.2832C>T
n.326C>T
c.*199C>T (n.*199C>T)
c.2494C>T (p.Pro832Ser)
c.2539C>T (p.Pro847Ser)
5g.78039178G>CCA360332140AP3B1c.2527C>G (p.Pro843Ala)
n.474C>G
c.2567C>G (p.Ala856Gly)
c.1873C>G (p.Pro625Ala)
c.*2436C>G (n.*2436C>G)
c.2617C>G (p.Pro873Ala)
c.2668C>G (p.Pro890Ala)
n.389C>G
c.2674C>G (p.Pro892Ala)
n.2832C>G
n.326C>G
c.*199C>G (n.*199C>G)
c.2494C>G (p.Pro832Ala)
c.2539C>G (p.Pro847Ala)
5g.78039178G>TCA360332139AP3B1c.2527C>A (p.Pro843Thr)
n.474C>A
c.2567C>A (p.Ala856Asp)
c.1873C>A (p.Pro625Thr)
c.*2436C>A (n.*2436C>A)
c.2617C>A (p.Pro873Thr)
c.2668C>A (p.Pro890Thr)
n.389C>A
c.2674C>A (p.Pro892Thr)
n.2832C>A
n.326C>A
c.*199C>A (n.*199C>A)
c.2494C>A (p.Pro832Thr)
c.2539C>A (p.Pro847Thr)
 ClinVar dbSNP gnomAD v4
5g.78039179C>ACA205706AP3B1c.2526G>T (p.Gln842His)
n.473G>T
c.2566G>T (p.Ala856Ser)
c.1872G>T (p.Gln624His)
c.*2435G>T (n.*2435G>T)
c.2616G>T (p.Gln872His)
c.2667G>T (p.Gln889His)
n.388G>T
c.2673G>T (p.Gln891His)
n.2831G>T
n.325G>T
c.*198G>T (n.*198G>T)
c.2493G>T (p.Gln831His)
c.2538G>T (p.Gln846His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.78039179C=CA1557269293AP3B1c.2526G= (p.Gln842=)
n.473G=
c.2566G= (p.Ala856=)
c.1872G= (p.Gln624=)
c.*2435G= (n.*2435G=)
c.2616G= (p.Gln872=)
c.2667G= (p.Gln889=)
n.388G=
c.2673G= (p.Gln891=)
n.2831G=
n.325G=
c.*198G= (n.*198G=)
c.2493G= (p.Gln831=)
c.2538G= (p.Gln846=)
5g.78039179C>GCA3316702AP3B1c.2526G>C (p.Gln842His)
n.473G>C
c.2566G>C (p.Ala856Pro)
c.1872G>C (p.Gln624His)
c.*2435G>C (n.*2435G>C)
c.2616G>C (p.Gln872His)
c.2667G>C (p.Gln889His)
n.388G>C
c.2673G>C (p.Gln891His)
n.2831G>C
n.325G>C
c.*198G>C (n.*198G>C)
c.2493G>C (p.Gln831His)
c.2538G>C (p.Gln846His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.78039179C>TCA445400307AP3B1c.2526G>A (p.Gln842=)
n.473G>A
c.2566G>A (p.Ala856Thr)
c.1872G>A (p.Gln624=)
c.*2435G>A (n.*2435G>A)
c.2616G>A (p.Gln872=)
c.2667G>A (p.Gln889=)
n.388G>A
c.2673G>A (p.Gln891=)
n.2831G>A
n.325G>A
c.*198G>A (n.*198G>A)
c.2493G>A (p.Gln831=)
c.2538G>A (p.Gln846=)
 ClinVar dbSNP gnomAD v4
5g.78039180T>ACA360332141AP3B1c.2525A>T (p.Gln842Leu)
n.472A>T
c.2565A>T (p.Thr855=)
c.1871A>T (p.Gln624Leu)
c.*2434A>T (n.*2434A>T)
c.2615A>T (p.Gln872Leu)
c.2666A>T (p.Gln889Leu)
n.387A>T
c.2672A>T (p.Gln891Leu)
n.2830A>T
n.324A>T
c.*197A>T (n.*197A>T)
c.2492A>T (p.Gln831Leu)
c.2537A>T (p.Gln846Leu)
5g.78039180T>CCA360332143AP3B1c.2525A>G (p.Gln842Arg)
n.472A>G
c.2565A>G (p.Thr855=)
c.1871A>G (p.Gln624Arg)
c.*2434A>G (n.*2434A>G)
c.2615A>G (p.Gln872Arg)
c.2666A>G (p.Gln889Arg)
n.387A>G
c.2672A>G (p.Gln891Arg)
n.2830A>G
n.324A>G
c.*197A>G (n.*197A>G)
c.2492A>G (p.Gln831Arg)
c.2537A>G (p.Gln846Arg)
5g.78039180T>GCA360332142AP3B1c.2525A>C (p.Gln842Pro)
n.472A>C
c.2565A>C (p.Thr855=)
c.1871A>C (p.Gln624Pro)
c.*2434A>C (n.*2434A>C)
c.2615A>C (p.Gln872Pro)
c.2666A>C (p.Gln889Pro)
n.387A>C
c.2672A>C (p.Gln891Pro)
n.2830A>C
n.324A>C
c.*197A>C (n.*197A>C)
c.2492A>C (p.Gln831Pro)
c.2537A>C (p.Gln846Pro)
5g.78039181G>ACA3316703AP3B1c.2524C>T (p.Gln842Ter)
n.471C>T
c.2564C>T (p.Thr855Ile)
c.1870C>T (p.Gln624Ter)
c.*2433C>T (n.*2433C>T)
c.2614C>T (p.Gln872Ter)
c.2665C>T (p.Gln889Ter)
n.386C>T
c.2671C>T (p.Gln891Ter)
n.2829C>T
n.323C>T
c.*196C>T (n.*196C>T)
c.2491C>T (p.Gln831Ter)
c.2536C>T (p.Gln846Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.78039181G>CCA360332145AP3B1c.2524C>G (p.Gln842Glu)
n.471C>G
c.2564C>G (p.Thr855Arg)
c.1870C>G (p.Gln624Glu)
c.*2433C>G (n.*2433C>G)
c.2614C>G (p.Gln872Glu)
c.2665C>G (p.Gln889Glu)
n.386C>G
c.2671C>G (p.Gln891Glu)
n.2829C>G
n.323C>G
c.*196C>G (n.*196C>G)
c.2491C>G (p.Gln831Glu)
c.2536C>G (p.Gln846Glu)
5g.78039181G=CA1557269300AP3B1c.2524C= (p.Gln842=)
n.471C=
c.2564C= (p.Thr855=)
c.1870C= (p.Gln624=)
c.*2433C= (n.*2433C=)
c.2614C= (p.Gln872=)
c.2665C= (p.Gln889=)
n.386C=
c.2671C= (p.Gln891=)
n.2829C=
n.323C=
c.*196C= (n.*196C=)
c.2491C= (p.Gln831=)
c.2536C= (p.Gln846=)
5g.78039181G>TCA360332144AP3B1c.2524C>A (p.Gln842Lys)
n.471C>A
c.2564C>A (p.Thr855Lys)
c.1870C>A (p.Gln624Lys)
c.*2433C>A (n.*2433C>A)
c.2614C>A (p.Gln872Lys)
c.2665C>A (p.Gln889Lys)
n.386C>A
c.2671C>A (p.Gln891Lys)
n.2829C>A
n.323C>A
c.*196C>A (n.*196C>A)
c.2491C>A (p.Gln831Lys)
c.2536C>A (p.Gln846Lys)
5g.78039182T>ACA360332146AP3B1c.2523A>T (p.Arg841Ser)
n.470A>T
c.2563A>T (p.Thr855Ser)
c.1869A>T (p.Arg623Ser)
c.*2432A>T (n.*2432A>T)
c.2613A>T (p.Arg871Ser)
c.2664A>T (p.Arg888Ser)
n.385A>T
c.2670A>T (p.Arg890Ser)
n.2828A>T
n.322A>T
c.*195A>T (n.*195A>T)
c.2490A>T (p.Arg830Ser)
c.2535A>T (p.Arg845Ser)
5g.78039182T>CCA445400311AP3B1c.2523A>G (p.Arg841=)
n.470A>G
c.2563A>G (p.Thr855Ala)
c.1869A>G (p.Arg623=)
c.*2432A>G (n.*2432A>G)
c.2613A>G (p.Arg871=)
c.2664A>G (p.Arg888=)
n.385A>G
c.2670A>G (p.Arg890=)
n.2828A>G
n.322A>G
c.*195A>G (n.*195A>G)
c.2490A>G (p.Arg830=)
c.2535A>G (p.Arg845=)
5g.78039182T>GCA360332147AP3B1c.2523A>C (p.Arg841Ser)
n.470A>C
c.2563A>C (p.Thr855Pro)
c.1869A>C (p.Arg623Ser)
c.*2432A>C (n.*2432A>C)
c.2613A>C (p.Arg871Ser)
c.2664A>C (p.Arg888Ser)
n.385A>C
c.2670A>C (p.Arg890Ser)
n.2828A>C
n.322A>C
c.*195A>C (n.*195A>C)
c.2490A>C (p.Arg830Ser)
c.2535A>C (p.Arg845Ser)
5g.78039183C>ACA360332148AP3B1c.2522G>T (p.Arg841Ile)
n.469G>T
c.2562G>T (p.Lys854Asn)
c.1868G>T (p.Arg623Ile)
c.*2431G>T (n.*2431G>T)
c.2612G>T (p.Arg871Ile)
c.2663G>T (p.Arg888Ile)
n.384G>T
c.2669G>T (p.Arg890Ile)
n.2827G>T
n.321G>T
c.*194G>T (n.*194G>T)
c.2489G>T (p.Arg830Ile)
c.2534G>T (p.Arg845Ile)
5g.78039183C>GCA360332149AP3B1c.2522G>C (p.Arg841Thr)
n.469G>C
c.2562G>C (p.Lys854Asn)
c.1868G>C (p.Arg623Thr)
c.*2431G>C (n.*2431G>C)
c.2612G>C (p.Arg871Thr)
c.2663G>C (p.Arg888Thr)
n.384G>C
c.2669G>C (p.Arg890Thr)
n.2827G>C
n.321G>C
c.*194G>C (n.*194G>C)
c.2489G>C (p.Arg830Thr)
c.2534G>C (p.Arg845Thr)
5g.78039183C>TCA360332150AP3B1c.2522G>A (p.Arg841Lys)
n.469G>A
c.2562G>A (p.Lys854=)
c.1868G>A (p.Arg623Lys)
c.*2431G>A (n.*2431G>A)
c.2612G>A (p.Arg871Lys)
c.2663G>A (p.Arg888Lys)
n.384G>A
c.2669G>A (p.Arg890Lys)
n.2827G>A
n.321G>A
c.*194G>A (n.*194G>A)
c.2489G>A (p.Arg830Lys)
c.2534G>A (p.Arg845Lys)
5g.78039184T>ACA121596995AP3B1c.2521A>T (p.Arg841Ter)
n.468A>T
c.2561A>T (p.Lys854Met)
c.1867A>T (p.Arg623Ter)
c.*2430A>T (n.*2430A>T)
c.2611A>T (p.Arg871Ter)
c.2662A>T (p.Arg888Ter)
n.383A>T
c.2668A>T (p.Arg890Ter)
n.2826A>T
n.320A>T
c.*193A>T (n.*193A>T)
c.2488A>T (p.Arg830Ter)
c.2533A>T (p.Arg845Ter)
 dbSNP
5g.78039184T>CCA360332151AP3B1c.2521A>G (p.Arg841Gly)
n.468A>G
c.2561A>G (p.Lys854Arg)
c.1867A>G (p.Arg623Gly)
c.*2430A>G (n.*2430A>G)
c.2611A>G (p.Arg871Gly)
c.2662A>G (p.Arg888Gly)
n.383A>G
c.2668A>G (p.Arg890Gly)
n.2826A>G
n.320A>G
c.*193A>G (n.*193A>G)
c.2488A>G (p.Arg830Gly)
c.2533A>G (p.Arg845Gly)
5g.78039184T>GCA445400316AP3B1c.2521A>C (p.Arg841=)
n.468A>C
c.2561A>C (p.Lys854Thr)
c.1867A>C (p.Arg623=)
c.*2430A>C (n.*2430A>C)
c.2611A>C (p.Arg871=)
c.2662A>C (p.Arg888=)
n.383A>C
c.2668A>C (p.Arg890=)
n.2826A>C
n.320A>C
c.*193A>C (n.*193A>C)
c.2488A>C (p.Arg830=)
c.2533A>C (p.Arg845=)
5g.78039184T=CA1557269303AP3B1c.2521A= (p.Arg841=)
n.468A=
c.2561A= (p.Lys854=)
c.1867A= (p.Arg623=)
c.*2430A= (n.*2430A=)
c.2611A= (p.Arg871=)
c.2662A= (p.Arg888=)
n.383A=
c.2668A= (p.Arg890=)
n.2826A=
n.320A=
c.*193A= (n.*193A=)
c.2488A= (p.Arg830=)
c.2533A= (p.Arg845=)
5g.78039185T>ACA445400318AP3B1c.2520A>T (p.Pro840=)
n.467A>T
c.2560A>T (p.Lys854Ter)
c.1866A>T (p.Pro622=)
c.*2429A>T (n.*2429A>T)
c.2610A>T (p.Pro870=)
c.2661A>T (p.Pro887=)
n.382A>T
c.2667A>T (p.Pro889=)
n.2825A>T
n.319A>T
c.*192A>T (n.*192A>T)
c.2487A>T (p.Pro829=)
c.2532A>T (p.Pro844=)
5g.78039185T>CCA445400320AP3B1c.2520A>G (p.Pro840=)
n.467A>G
c.2560A>G (p.Lys854Glu)
c.1866A>G (p.Pro622=)
c.*2429A>G (n.*2429A>G)
c.2610A>G (p.Pro870=)
c.2661A>G (p.Pro887=)
n.382A>G
c.2667A>G (p.Pro889=)
n.2825A>G
n.319A>G
c.*192A>G (n.*192A>G)
c.2487A>G (p.Pro829=)
c.2532A>G (p.Pro844=)
5g.78039185T>GCA445400321AP3B1c.2520A>C (p.Pro840=)
n.467A>C
c.2560A>C (p.Lys854Gln)
c.1866A>C (p.Pro622=)
c.*2429A>C (n.*2429A>C)
c.2610A>C (p.Pro870=)
c.2661A>C (p.Pro887=)
n.382A>C
c.2667A>C (p.Pro889=)
n.2825A>C
n.319A>C
c.*192A>C (n.*192A>C)
c.2487A>C (p.Pro829=)
c.2532A>C (p.Pro844=)
5g.78039186G>ACA360332152AP3B1c.2519C>T (p.Pro840Leu)
n.466C>T
c.2559C>T (p.Ser853=)
c.1865C>T (p.Pro622Leu)
c.*2428C>T (n.*2428C>T)
c.2609C>T (p.Pro870Leu)
c.2660C>T (p.Pro887Leu)
n.381C>T
c.2666C>T (p.Pro889Leu)
n.2824C>T
n.318C>T
c.*191C>T (n.*191C>T)
c.2486C>T (p.Pro829Leu)
c.2531C>T (p.Pro844Leu)
 dbSNP gnomAD v4
5g.78039186G>CCA360332153AP3B1c.2519C>G (p.Pro840Arg)
n.466C>G
c.2559C>G (p.Ser853=)
c.1865C>G (p.Pro622Arg)
c.*2428C>G (n.*2428C>G)
c.2609C>G (p.Pro870Arg)
c.2660C>G (p.Pro887Arg)
n.381C>G
c.2666C>G (p.Pro889Arg)
n.2824C>G
n.318C>G
c.*191C>G (n.*191C>G)
c.2486C>G (p.Pro829Arg)
c.2531C>G (p.Pro844Arg)
 gnomAD v4
5g.78039186G>TCA360332154AP3B1c.2519C>A (p.Pro840Gln)
n.466C>A
c.2559C>A (p.Ser853=)
c.1865C>A (p.Pro622Gln)
c.*2428C>A (n.*2428C>A)
c.2609C>A (p.Pro870Gln)
c.2660C>A (p.Pro887Gln)
n.381C>A
c.2666C>A (p.Pro889Gln)
n.2824C>A
n.318C>A
c.*191C>A (n.*191C>A)
c.2486C>A (p.Pro829Gln)
c.2531C>A (p.Pro844Gln)
5g.78039187G>ACA360332155AP3B1c.2518C>T (p.Pro840Ser)
n.465C>T
c.2558C>T (p.Ser853Phe)
c.1864C>T (p.Pro622Ser)
c.*2427C>T (n.*2427C>T)
c.2608C>T (p.Pro870Ser)
c.2659C>T (p.Pro887Ser)
n.380C>T
c.2665C>T (p.Pro889Ser)
n.2823C>T
n.317C>T
c.*190C>T (n.*190C>T)
c.2485C>T (p.Pro829Ser)
c.2530C>T (p.Pro844Ser)
5g.78039187G>CCA360332156AP3B1c.2518C>G (p.Pro840Ala)
n.465C>G
c.2558C>G (p.Ser853Cys)
c.1864C>G (p.Pro622Ala)
c.*2427C>G (n.*2427C>G)
c.2608C>G (p.Pro870Ala)
c.2659C>G (p.Pro887Ala)
n.380C>G
c.2665C>G (p.Pro889Ala)
n.2823C>G
n.317C>G
c.*190C>G (n.*190C>G)
c.2485C>G (p.Pro829Ala)
c.2530C>G (p.Pro844Ala)
5g.78039187G>TCA360332157AP3B1c.2518C>A (p.Pro840Thr)
n.465C>A
c.2558C>A (p.Ser853Tyr)
c.1864C>A (p.Pro622Thr)
c.*2427C>A (n.*2427C>A)
c.2608C>A (p.Pro870Thr)
c.2659C>A (p.Pro887Thr)
n.380C>A
c.2665C>A (p.Pro889Thr)
n.2823C>A
n.317C>A
c.*190C>A (n.*190C>A)
c.2485C>A (p.Pro829Thr)
c.2530C>A (p.Pro844Thr)
5g.78039188A>CCA360332158AP3B1c.2517T>G (p.Phe839Leu)
n.464T>G
c.2557T>G (p.Ser853Ala)
c.1863T>G (p.Phe621Leu)
c.*2426T>G (n.*2426T>G)
c.2607T>G (p.Phe869Leu)
c.2658T>G (p.Phe886Leu)
n.379T>G
c.2664T>G (p.Phe888Leu)
n.2822T>G
n.316T>G
c.*189T>G (n.*189T>G)
c.2484T>G (p.Phe828Leu)
c.2529T>G (p.Phe843Leu)
5g.78039188A>GCA445400322AP3B1c.2517T>C (p.Phe839=)
n.464T>C
c.2557T>C (p.Ser853Pro)
c.1863T>C (p.Phe621=)
c.*2426T>C (n.*2426T>C)
c.2607T>C (p.Phe869=)
c.2658T>C (p.Phe886=)
n.379T>C
c.2664T>C (p.Phe888=)
n.2822T>C
n.316T>C
c.*189T>C (n.*189T>C)
c.2484T>C (p.Phe828=)
c.2529T>C (p.Phe843=)
5g.78039188A>TCA360332159AP3B1c.2517T>A (p.Phe839Leu)
n.464T>A
c.2557T>A (p.Ser853Thr)
c.1863T>A (p.Phe621Leu)
c.*2426T>A (n.*2426T>A)
c.2607T>A (p.Phe869Leu)
c.2658T>A (p.Phe886Leu)
n.379T>A
c.2664T>A (p.Phe888Leu)
n.2822T>A
n.316T>A
c.*189T>A (n.*189T>A)
c.2484T>A (p.Phe828Leu)
c.2529T>A (p.Phe843Leu)
5g.78039189A>CCA360332160AP3B1c.2516T>G (p.Phe839Cys)
n.463T>G
c.2556T>G (p.Leu852=)
c.1862T>G (p.Phe621Cys)
c.*2425T>G (n.*2425T>G)
c.2606T>G (p.Phe869Cys)
c.2657T>G (p.Phe886Cys)
n.378T>G
c.2663T>G (p.Phe888Cys)
n.2821T>G
n.315T>G
c.*188T>G (n.*188T>G)
c.2483T>G (p.Phe828Cys)
c.2528T>G (p.Phe843Cys)
5g.78039189A>GCA360332161AP3B1c.2516T>C (p.Phe839Ser)
n.463T>C
c.2556T>C (p.Leu852=)
c.1862T>C (p.Phe621Ser)
c.*2425T>C (n.*2425T>C)
c.2606T>C (p.Phe869Ser)
c.2657T>C (p.Phe886Ser)
n.378T>C
c.2663T>C (p.Phe888Ser)
n.2821T>C
n.315T>C
c.*188T>C (n.*188T>C)
c.2483T>C (p.Phe828Ser)
c.2528T>C (p.Phe843Ser)
5g.78039189A>TCA360332162AP3B1c.2516T>A (p.Phe839Tyr)
n.463T>A
c.2556T>A (p.Leu852=)
c.1862T>A (p.Phe621Tyr)
c.*2425T>A (n.*2425T>A)
c.2606T>A (p.Phe869Tyr)
c.2657T>A (p.Phe886Tyr)
n.378T>A
c.2663T>A (p.Phe888Tyr)
n.2821T>A
n.315T>A
c.*188T>A (n.*188T>A)
c.2483T>A (p.Phe828Tyr)
c.2528T>A (p.Phe843Tyr)
5g.78039190A>CCA360332163AP3B1c.2515T>G (p.Phe839Val)
n.462T>G
c.2555T>G (p.Leu852Arg)
c.1861T>G (p.Phe621Val)
c.*2424T>G (n.*2424T>G)
c.2605T>G (p.Phe869Val)
c.2656T>G (p.Phe886Val)
n.377T>G
c.2662T>G (p.Phe888Val)
n.2820T>G
n.314T>G
c.*187T>G (n.*187T>G)
c.2482T>G (p.Phe828Val)
c.2527T>G (p.Phe843Val)
 gnomAD v4
5g.78039190A>GCA360332164AP3B1c.2515T>C (p.Phe839Leu)
n.462T>C
c.2555T>C (p.Leu852Pro)
c.1861T>C (p.Phe621Leu)
c.*2424T>C (n.*2424T>C)
c.2605T>C (p.Phe869Leu)
c.2656T>C (p.Phe886Leu)
n.377T>C
c.2662T>C (p.Phe888Leu)
n.2820T>C
n.314T>C
c.*187T>C (n.*187T>C)
c.2482T>C (p.Phe828Leu)
c.2527T>C (p.Phe843Leu)
5g.78039190A>TCA360332165AP3B1c.2515T>A (p.Phe839Ile)
n.462T>A
c.2555T>A (p.Leu852His)
c.1861T>A (p.Phe621Ile)
c.*2424T>A (n.*2424T>A)
c.2605T>A (p.Phe869Ile)
c.2656T>A (p.Phe886Ile)
n.377T>A
c.2662T>A (p.Phe888Ile)
n.2820T>A
n.314T>A
c.*187T>A (n.*187T>A)
c.2482T>A (p.Phe828Ile)
c.2527T>A (p.Phe843Ile)
5g.78039191G>ACA445400329AP3B1c.2514C>T (p.Phe838=)
n.461C>T
c.2554C>T (p.Leu852Phe)
c.1860C>T (p.Phe620=)
c.*2423C>T (n.*2423C>T)
c.2604C>T (p.Phe868=)
c.2655C>T (p.Phe885=)
n.376C>T
c.2661C>T (p.Phe887=)
n.2819C>T
n.313C>T
c.*186C>T (n.*186C>T)
c.2481C>T (p.Phe827=)
c.2526C>T (p.Phe842=)
5g.78039191G>CCA360332166AP3B1c.2514C>G (p.Phe838Leu)
n.461C>G
c.2554C>G (p.Leu852Val)
c.1860C>G (p.Phe620Leu)
c.*2423C>G (n.*2423C>G)
c.2604C>G (p.Phe868Leu)
c.2655C>G (p.Phe885Leu)
n.376C>G
c.2661C>G (p.Phe887Leu)
n.2819C>G
n.313C>G
c.*186C>G (n.*186C>G)
c.2481C>G (p.Phe827Leu)
c.2526C>G (p.Phe842Leu)
5g.78039191G=CA1557269306AP3B1c.2514C= (p.Phe838=)
n.461C=
c.2554C= (p.Leu852=)
c.1860C= (p.Phe620=)
c.*2423C= (n.*2423C=)
c.2604C= (p.Phe868=)
c.2655C= (p.Phe885=)
n.376C=
c.2661C= (p.Phe887=)
n.2819C=
n.313C=
c.*186C= (n.*186C=)
c.2481C= (p.Phe827=)
c.2526C= (p.Phe842=)
5g.78039191G>TCA209599AP3B1c.2514C>A (p.Phe838Leu)
n.461C>A
c.2554C>A (p.Leu852Ile)
c.1860C>A (p.Phe620Leu)
c.*2423C>A (n.*2423C>A)
c.2604C>A (p.Phe868Leu)
c.2655C>A (p.Phe885Leu)
n.376C>A
c.2661C>A (p.Phe887Leu)
n.2819C>A
n.313C>A
c.*186C>A (n.*186C>A)
c.2481C>A (p.Phe827Leu)
c.2526C>A (p.Phe842Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.78039192A>CCA360332167AP3B1c.2513T>G (p.Phe838Cys)
n.460T>G
c.2553T>G (p.Phe851Leu)
c.1859T>G (p.Phe620Cys)
c.*2422T>G (n.*2422T>G)
c.2603T>G (p.Phe868Cys)
c.2654T>G (p.Phe885Cys)
n.375T>G
c.2660T>G (p.Phe887Cys)
n.2818T>G
n.312T>G
c.*185T>G (n.*185T>G)
c.2480T>G (p.Phe827Cys)
c.2525T>G (p.Phe842Cys)
5g.78039192A>GCA360332168AP3B1c.2513T>C (p.Phe838Ser)
n.460T>C
c.2553T>C (p.Phe851=)
c.1859T>C (p.Phe620Ser)
c.*2422T>C (n.*2422T>C)
c.2603T>C (p.Phe868Ser)
c.2654T>C (p.Phe885Ser)
n.375T>C
c.2660T>C (p.Phe887Ser)
n.2818T>C
n.312T>C
c.*185T>C (n.*185T>C)
c.2480T>C (p.Phe827Ser)
c.2525T>C (p.Phe842Ser)
5g.78039192A>TCA360332169AP3B1c.2513T>A (p.Phe838Tyr)
n.460T>A
c.2553T>A (p.Phe851Leu)
c.1859T>A (p.Phe620Tyr)
c.*2422T>A (n.*2422T>A)
c.2603T>A (p.Phe868Tyr)
c.2654T>A (p.Phe885Tyr)
n.375T>A
c.2660T>A (p.Phe887Tyr)
n.2818T>A
n.312T>A
c.*185T>A (n.*185T>A)
c.2480T>A (p.Phe827Tyr)
c.2525T>A (p.Phe842Tyr)
5g.78039193A>CCA360332172AP3B1c.2512T>G (p.Phe838Val)
n.459T>G
c.2552T>G (p.Phe851Cys)
c.1858T>G (p.Phe620Val)
c.*2421T>G (n.*2421T>G)
c.2602T>G (p.Phe868Val)
c.2653T>G (p.Phe885Val)
n.374T>G
c.2659T>G (p.Phe887Val)
n.2817T>G
n.311T>G
c.*184T>G (n.*184T>G)
c.2479T>G (p.Phe827Val)
c.2524T>G (p.Phe842Val)
5g.78039193A>GCA360332171AP3B1c.2512T>C (p.Phe838Leu)
n.459T>C
c.2552T>C (p.Phe851Ser)
c.1858T>C (p.Phe620Leu)
c.*2421T>C (n.*2421T>C)
c.2602T>C (p.Phe868Leu)
c.2653T>C (p.Phe885Leu)
n.374T>C
c.2659T>C (p.Phe887Leu)
n.2817T>C
n.311T>C
c.*184T>C (n.*184T>C)
c.2479T>C (p.Phe827Leu)
c.2524T>C (p.Phe842Leu)
5g.78039193A>TCA360332170AP3B1c.2512T>A (p.Phe838Ile)
n.459T>A
c.2552T>A (p.Phe851Tyr)
c.1858T>A (p.Phe620Ile)
c.*2421T>A (n.*2421T>A)
c.2602T>A (p.Phe868Ile)
c.2653T>A (p.Phe885Ile)
n.374T>A
c.2659T>A (p.Phe887Ile)
n.2817T>A
n.311T>A
c.*184T>A (n.*184T>A)
c.2479T>A (p.Phe827Ile)
c.2524T>A (p.Phe842Ile)
5g.78039194A>CCA360332174AP3B1c.2511T>G (p.Tyr837Ter)
n.458T>G
c.2551T>G (p.Phe851Val)
c.1857T>G (p.Tyr619Ter)
c.*2420T>G (n.*2420T>G)
c.2601T>G (p.Tyr867Ter)
c.2652T>G (p.Tyr884Ter)
n.373T>G
c.2658T>G (p.Tyr886Ter)
n.2816T>G
n.310T>G
c.*183T>G (n.*183T>G)
c.2478T>G (p.Tyr826Ter)
c.2523T>G (p.Tyr841Ter)
5g.78039194A>GCA445400332AP3B1c.2511T>C (p.Tyr837=)
n.458T>C
c.2551T>C (p.Phe851Leu)
c.1857T>C (p.Tyr619=)
c.*2420T>C (n.*2420T>C)
c.2601T>C (p.Tyr867=)
c.2652T>C (p.Tyr884=)
n.373T>C
c.2658T>C (p.Tyr886=)
n.2816T>C
n.310T>C
c.*183T>C (n.*183T>C)
c.2478T>C (p.Tyr826=)
c.2523T>C (p.Tyr841=)
 gnomAD v4
5g.78039194A>TCA360332173AP3B1c.2511T>A (p.Tyr837Ter)
n.458T>A
c.2551T>A (p.Phe851Ile)
c.1857T>A (p.Tyr619Ter)
c.*2420T>A (n.*2420T>A)
c.2601T>A (p.Tyr867Ter)
c.2652T>A (p.Tyr884Ter)
n.373T>A
c.2658T>A (p.Tyr886Ter)
n.2816T>A
n.310T>A
c.*183T>A (n.*183T>A)
c.2478T>A (p.Tyr826Ter)
c.2523T>A (p.Tyr841Ter)
5g.78039195T>ACA360332175AP3B1c.2510A>T (p.Tyr837Phe)
n.457A>T
c.2550A>T (p.Leu850Phe)
c.1856A>T (p.Tyr619Phe)
c.*2419A>T (n.*2419A>T)
c.2600A>T (p.Tyr867Phe)
c.2651A>T (p.Tyr884Phe)
n.372A>T
c.2657A>T (p.Tyr886Phe)
n.2815A>T
n.309A>T
c.*182A>T (n.*182A>T)
c.2477A>T (p.Tyr826Phe)
c.2522A>T (p.Tyr841Phe)
5g.78039195T>CCA360332176AP3B1c.2510A>G (p.Tyr837Cys)
n.457A>G
c.2550A>G (p.Leu850=)
c.1856A>G (p.Tyr619Cys)
c.*2419A>G (n.*2419A>G)
c.2600A>G (p.Tyr867Cys)
c.2651A>G (p.Tyr884Cys)
n.372A>G
c.2657A>G (p.Tyr886Cys)
n.2815A>G
n.309A>G
c.*182A>G (n.*182A>G)
c.2477A>G (p.Tyr826Cys)
c.2522A>G (p.Tyr841Cys)
 gnomAD v4
5g.78039195T>GCA360332177AP3B1c.2510A>C (p.Tyr837Ser)
n.457A>C
c.2550A>C (p.Leu850Phe)
c.1856A>C (p.Tyr619Ser)
c.*2419A>C (n.*2419A>C)
c.2600A>C (p.Tyr867Ser)
c.2651A>C (p.Tyr884Ser)
n.372A>C
c.2657A>C (p.Tyr886Ser)
n.2815A>C
n.309A>C
c.*182A>C (n.*182A>C)
c.2477A>C (p.Tyr826Ser)
c.2522A>C (p.Tyr841Ser)
 gnomAD v4
5g.78039196A>CCA360332178AP3B1c.2509T>G (p.Tyr837Asp)
n.456T>G
c.2549T>G (p.Leu850Ter)
c.1855T>G (p.Tyr619Asp)
c.*2418T>G (n.*2418T>G)
c.2599T>G (p.Tyr867Asp)
c.2650T>G (p.Tyr884Asp)
n.371T>G
c.2656T>G (p.Tyr886Asp)
n.2814T>G
n.308T>G
c.*181T>G (n.*181T>G)
c.2476T>G (p.Tyr826Asp)
c.2521T>G (p.Tyr841Asp)
5g.78039196A>GCA360332179AP3B1c.2509T>C (p.Tyr837His)
n.456T>C
c.2549T>C (p.Leu850Ser)
c.1855T>C (p.Tyr619His)
c.*2418T>C (n.*2418T>C)
c.2599T>C (p.Tyr867His)
c.2650T>C (p.Tyr884His)
n.371T>C
c.2656T>C (p.Tyr886His)
n.2814T>C
n.308T>C
c.*181T>C (n.*181T>C)
c.2476T>C (p.Tyr826His)
c.2521T>C (p.Tyr841His)
 ClinVar dbSNP
5g.78039196A>TCA360332180AP3B1c.2509T>A (p.Tyr837Asn)
n.456T>A
c.2549T>A (p.Leu850Ter)
c.1855T>A (p.Tyr619Asn)
c.*2418T>A (n.*2418T>A)
c.2599T>A (p.Tyr867Asn)
c.2650T>A (p.Tyr884Asn)
n.371T>A
c.2656T>A (p.Tyr886Asn)
n.2814T>A
n.308T>A
c.*181T>A (n.*181T>A)
c.2476T>A (p.Tyr826Asn)
c.2521T>A (p.Tyr841Asn)
5g.78039197A>CCA360332181AP3B1c.2508T>G (p.His836Gln)
n.455T>G
c.2548T>G (p.Leu850Val)
c.1854T>G (p.His618Gln)
c.*2417T>G (n.*2417T>G)
c.2598T>G (p.His866Gln)
c.2649T>G (p.His883Gln)
n.370T>G
c.2655T>G (p.His885Gln)
n.2813T>G
n.307T>G
c.*180T>G (n.*180T>G)
c.2475T>G (p.His825Gln)
c.2520T>G (p.His840Gln)
5g.78039197A>GCA445400339AP3B1c.2508T>C (p.His836=)
n.455T>C
c.2548T>C (p.Leu850=)
c.1854T>C (p.His618=)
c.*2417T>C (n.*2417T>C)
c.2598T>C (p.His866=)
c.2649T>C (p.His883=)
n.370T>C
c.2655T>C (p.His885=)
n.2813T>C
n.307T>C
c.*180T>C (n.*180T>C)
c.2475T>C (p.His825=)
c.2520T>C (p.His840=)
5g.78039197A>TCA360332182AP3B1c.2508T>A (p.His836Gln)
n.455T>A
c.2548T>A (p.Leu850Ile)
c.1854T>A (p.His618Gln)
c.*2417T>A (n.*2417T>A)
c.2598T>A (p.His866Gln)
c.2649T>A (p.His883Gln)
n.370T>A
c.2655T>A (p.His885Gln)
n.2813T>A
n.307T>A
c.*180T>A (n.*180T>A)
c.2475T>A (p.His825Gln)
c.2520T>A (p.His840Gln)
5g.78039198T>ACA360332183AP3B1c.2507A>T (p.His836Leu)
n.454A>T
c.2547A>T (p.Pro849=)
c.1853A>T (p.His618Leu)
c.*2416A>T (n.*2416A>T)
c.2597A>T (p.His866Leu)
c.2648A>T (p.His883Leu)
n.369A>T
c.2654A>T (p.His885Leu)
n.2812A>T
n.306A>T
c.*179A>T (n.*179A>T)
c.2474A>T (p.His825Leu)
c.2519A>T (p.His840Leu)
5g.78039198T>CCA360332184AP3B1c.2507A>G (p.His836Arg)
n.454A>G
c.2547A>G (p.Pro849=)
c.1853A>G (p.His618Arg)
c.*2416A>G (n.*2416A>G)
c.2597A>G (p.His866Arg)
c.2648A>G (p.His883Arg)
n.369A>G
c.2654A>G (p.His885Arg)
n.2812A>G
n.306A>G
c.*179A>G (n.*179A>G)
c.2474A>G (p.His825Arg)
c.2519A>G (p.His840Arg)
5g.78039198T>GCA360332185AP3B1c.2507A>C (p.His836Pro)
n.454A>C
c.2547A>C (p.Pro849=)
c.1853A>C (p.His618Pro)
c.*2416A>C (n.*2416A>C)
c.2597A>C (p.His866Pro)
c.2648A>C (p.His883Pro)
n.369A>C
c.2654A>C (p.His885Pro)
n.2812A>C
n.306A>C
c.*179A>C (n.*179A>C)
c.2474A>C (p.His825Pro)
c.2519A>C (p.His840Pro)
5g.78039199G>ACA360332188AP3B1c.2506C>T (p.His836Tyr)
n.453C>T
c.2546C>T (p.Pro849Leu)
c.1852C>T (p.His618Tyr)
c.*2415C>T (n.*2415C>T)
c.2596C>T (p.His866Tyr)
c.2647C>T (p.His883Tyr)
n.368C>T
c.2653C>T (p.His885Tyr)
n.2811C>T
n.305C>T
c.*178C>T (n.*178C>T)
c.2473C>T (p.His825Tyr)
c.2518C>T (p.His840Tyr)
5g.78039199G>CCA360332187AP3B1c.2506C>G (p.His836Asp)
n.453C>G
c.2546C>G (p.Pro849Arg)
c.1852C>G (p.His618Asp)
c.*2415C>G (n.*2415C>G)
c.2596C>G (p.His866Asp)
c.2647C>G (p.His883Asp)
n.368C>G
c.2653C>G (p.His885Asp)
n.2811C>G
n.305C>G
c.*178C>G (n.*178C>G)
c.2473C>G (p.His825Asp)
c.2518C>G (p.His840Asp)
5g.78039199G>TCA360332186AP3B1c.2506C>A (p.His836Asn)
n.453C>A
c.2546C>A (p.Pro849Gln)
c.1852C>A (p.His618Asn)
c.*2415C>A (n.*2415C>A)
c.2596C>A (p.His866Asn)
c.2647C>A (p.His883Asn)
n.368C>A
c.2653C>A (p.His885Asn)
n.2811C>A
n.305C>A
c.*178C>A (n.*178C>A)
c.2473C>A (p.His825Asn)
c.2518C>A (p.His840Asn)
5g.78039200G>ACA3316704AP3B1c.2505C>T (p.Ala835=)
n.452C>T
c.2545C>T (p.Pro849Ser)
c.1851C>T (p.Ala617=)
c.*2414C>T (n.*2414C>T)
c.2595C>T (p.Ala865=)
c.2646C>T (p.Ala882=)
n.367C>T
c.2652C>T (p.Ala884=)
n.2810C>T
n.304C>T
c.*177C>T (n.*177C>T)
c.2472C>T (p.Ala824=)
c.2517C>T (p.Ala839=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.78039200G>CCA445400342AP3B1c.2505C>G (p.Ala835=)
n.452C>G
c.2545C>G (p.Pro849Ala)
c.1851C>G (p.Ala617=)
c.*2414C>G (n.*2414C>G)
c.2595C>G (p.Ala865=)
c.2646C>G (p.Ala882=)
n.367C>G
c.2652C>G (p.Ala884=)
n.2810C>G
n.304C>G
c.*177C>G (n.*177C>G)
c.2472C>G (p.Ala824=)
c.2517C>G (p.Ala839=)
 dbSNP
5g.78039200G=CA1557269311AP3B1c.2505C= (p.Ala835=)
n.452C=
c.2545C= (p.Pro849=)
c.1851C= (p.Ala617=)
c.*2414C= (n.*2414C=)
c.2595C= (p.Ala865=)
c.2646C= (p.Ala882=)
n.367C=
c.2652C= (p.Ala884=)
n.2810C=
n.304C=
c.*177C= (n.*177C=)
c.2472C= (p.Ala824=)
c.2517C= (p.Ala839=)
5g.78039200G>TCA445400346AP3B1c.2505C>A (p.Ala835=)
n.452C>A
c.2545C>A (p.Pro849Thr)
c.1851C>A (p.Ala617=)
c.*2414C>A (n.*2414C>A)
c.2595C>A (p.Ala865=)
c.2646C>A (p.Ala882=)
n.367C>A
c.2652C>A (p.Ala884=)
n.2810C>A
n.304C>A
c.*177C>A (n.*177C>A)
c.2472C>A (p.Ala824=)
c.2517C>A (p.Ala839=)
5g.78039201G>ACA360332189AP3B1c.2504C>T (p.Ala835Val)
n.451C>T
c.2544C>T (p.Cys848=)
c.1850C>T (p.Ala617Val)
c.*2413C>T (n.*2413C>T)
c.2594C>T (p.Ala865Val)
c.2645C>T (p.Ala882Val)
n.366C>T
c.2651C>T (p.Ala884Val)
n.2809C>T
n.303C>T
c.*176C>T (n.*176C>T)
c.2471C>T (p.Ala824Val)
c.2516C>T (p.Ala839Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.78039201G>CCA360332190AP3B1c.2504C>G (p.Ala835Gly)
n.451C>G
c.2544C>G (p.Cys848Trp)
c.1850C>G (p.Ala617Gly)
c.*2413C>G (n.*2413C>G)
c.2594C>G (p.Ala865Gly)
c.2645C>G (p.Ala882Gly)
n.366C>G
c.2651C>G (p.Ala884Gly)
n.2809C>G
n.303C>G
c.*176C>G (n.*176C>G)
c.2471C>G (p.Ala824Gly)
c.2516C>G (p.Ala839Gly)
5g.78039201G=CA1557269317AP3B1c.2504C= (p.Ala835=)
n.451C=
c.2544C= (p.Cys848=)
c.1850C= (p.Ala617=)
c.*2413C= (n.*2413C=)
c.2594C= (p.Ala865=)
c.2645C= (p.Ala882=)
n.366C=
c.2651C= (p.Ala884=)
n.2809C=
n.303C=
c.*176C= (n.*176C=)
c.2471C= (p.Ala824=)
c.2516C= (p.Ala839=)
5g.78039201G>TCA360332191AP3B1c.2504C>A (p.Ala835Asp)
n.451C>A
c.2544C>A (p.Cys848Ter)
c.1850C>A (p.Ala617Asp)
c.*2413C>A (n.*2413C>A)
c.2594C>A (p.Ala865Asp)
c.2645C>A (p.Ala882Asp)
n.366C>A
c.2651C>A (p.Ala884Asp)
n.2809C>A
n.303C>A
c.*176C>A (n.*176C>A)
c.2471C>A (p.Ala824Asp)
c.2516C>A (p.Ala839Asp)
5g.78039202C>ACA360332192AP3B1c.2503G>T (p.Ala835Ser)
n.450G>T
c.2543G>T (p.Cys848Phe)
c.1849G>T (p.Ala617Ser)
c.*2412G>T (n.*2412G>T)
c.2593G>T (p.Ala865Ser)
c.2644G>T (p.Ala882Ser)
n.365G>T
c.2650G>T (p.Ala884Ser)
n.2808G>T
n.302G>T
c.*175G>T (n.*175G>T)
c.2470G>T (p.Ala824Ser)
c.2515G>T (p.Ala839Ser)
 gnomAD v4
5g.78039202C>GCA360332193AP3B1c.2503G>C (p.Ala835Pro)
n.450G>C
c.2543G>C (p.Cys848Ser)
c.1849G>C (p.Ala617Pro)
c.*2412G>C (n.*2412G>C)
c.2593G>C (p.Ala865Pro)
c.2644G>C (p.Ala882Pro)
n.365G>C
c.2650G>C (p.Ala884Pro)
n.2808G>C
n.302G>C
c.*175G>C (n.*175G>C)
c.2470G>C (p.Ala824Pro)
c.2515G>C (p.Ala839Pro)
5g.78039202C>TCA360332194AP3B1c.2503G>A (p.Ala835Thr)
n.450G>A
c.2543G>A (p.Cys848Tyr)
c.1849G>A (p.Ala617Thr)
c.*2412G>A (n.*2412G>A)
c.2593G>A (p.Ala865Thr)
c.2644G>A (p.Ala882Thr)
n.365G>A
c.2650G>A (p.Ala884Thr)
n.2808G>A
n.302G>A
c.*175G>A (n.*175G>A)
c.2470G>A (p.Ala824Thr)
c.2515G>A (p.Ala839Thr)
 COSMIC
5g.78039203A=CA1557269320AP3B1c.2502T= (p.Ala834=)
n.449T=
c.2542T= (p.Cys848=)
c.1848T= (p.Ala616=)
c.*2411T= (n.*2411T=)
c.2592T= (p.Ala864=)
c.2643T= (p.Ala881=)
n.364T=
c.2649T= (p.Ala883=)
n.2807T=
n.301T=
c.*174T= (n.*174T=)
c.2469T= (p.Ala823=)
c.2514T= (p.Ala838=)
5g.78039203A>CCA445400349AP3B1c.2502T>G (p.Ala834=)
n.449T>G
c.2542T>G (p.Cys848Gly)
c.1848T>G (p.Ala616=)
c.*2411T>G (n.*2411T>G)
c.2592T>G (p.Ala864=)
c.2643T>G (p.Ala881=)
n.364T>G
c.2649T>G (p.Ala883=)
n.2807T>G
n.301T>G
c.*174T>G (n.*174T>G)
c.2469T>G (p.Ala823=)
c.2514T>G (p.Ala838=)
 dbSNP gnomAD v2 gnomAD v4
5g.78039203A>GCA445400350AP3B1c.2502T>C (p.Ala834=)
n.449T>C
c.2542T>C (p.Cys848Arg)
c.1848T>C (p.Ala616=)
c.*2411T>C (n.*2411T>C)
c.2592T>C (p.Ala864=)
c.2643T>C (p.Ala881=)
n.364T>C
c.2649T>C (p.Ala883=)
n.2807T>C
n.301T>C
c.*174T>C (n.*174T>C)
c.2469T>C (p.Ala823=)
c.2514T>C (p.Ala838=)
5g.78039203A>TCA445400352AP3B1c.2502T>A (p.Ala834=)
n.449T>A
c.2542T>A (p.Cys848Ser)
c.1848T>A (p.Ala616=)
c.*2411T>A (n.*2411T>A)
c.2592T>A (p.Ala864=)
c.2643T>A (p.Ala881=)
n.364T>A
c.2649T>A (p.Ala883=)
n.2807T>A
n.301T>A
c.*174T>A (n.*174T>A)
c.2469T>A (p.Ala823=)
c.2514T>A (p.Ala838=)
5g.78039204G>ACA360332195AP3B1c.2501C>T (p.Ala834Val)
n.448C>T
c.2541C>T (p.Ser847=)
c.1847C>T (p.Ala616Val)
c.*2410C>T (n.*2410C>T)
c.2591C>T (p.Ala864Val)
c.2642C>T (p.Ala881Val)
n.363C>T
c.2648C>T (p.Ala883Val)
n.2806C>T
n.300C>T
c.*173C>T (n.*173C>T)
c.2468C>T (p.Ala823Val)
c.2513C>T (p.Ala838Val)
5g.78039204G>CCA360332196AP3B1c.2501C>G (p.Ala834Gly)
n.448C>G
c.2541C>G (p.Ser847Arg)
c.1847C>G (p.Ala616Gly)
c.*2410C>G (n.*2410C>G)
c.2591C>G (p.Ala864Gly)
c.2642C>G (p.Ala881Gly)
n.363C>G
c.2648C>G (p.Ala883Gly)
n.2806C>G
n.300C>G
c.*173C>G (n.*173C>G)
c.2468C>G (p.Ala823Gly)
c.2513C>G (p.Ala838Gly)
5g.78039204G>TCA360332197AP3B1c.2501C>A (p.Ala834Asp)
n.448C>A
c.2541C>A (p.Ser847Arg)
c.1847C>A (p.Ala616Asp)
c.*2410C>A (n.*2410C>A)
c.2591C>A (p.Ala864Asp)
c.2642C>A (p.Ala881Asp)
n.363C>A
c.2648C>A (p.Ala883Asp)
n.2806C>A
n.300C>A
c.*173C>A (n.*173C>A)
c.2468C>A (p.Ala823Asp)
c.2513C>A (p.Ala838Asp)
 COSMIC
5g.78039205C>ACA360332198AP3B1c.2500G>T (p.Ala834Ser)
n.447G>T
c.2540G>T (p.Ser847Ile)
c.1846G>T (p.Ala616Ser)
c.*2409G>T (n.*2409G>T)
c.2590G>T (p.Ala864Ser)
c.2641G>T (p.Ala881Ser)
n.362G>T
c.2647G>T (p.Ala883Ser)
n.2805G>T
n.299G>T
c.*172G>T (n.*172G>T)
c.2467G>T (p.Ala823Ser)
c.2512G>T (p.Ala838Ser)
5g.78039205C>GCA360332199AP3B1c.2500G>C (p.Ala834Pro)
n.447G>C
c.2540G>C (p.Ser847Thr)
c.1846G>C (p.Ala616Pro)
c.*2409G>C (n.*2409G>C)
c.2590G>C (p.Ala864Pro)
c.2641G>C (p.Ala881Pro)
n.362G>C
c.2647G>C (p.Ala883Pro)
n.2805G>C
n.299G>C
c.*172G>C (n.*172G>C)
c.2467G>C (p.Ala823Pro)
c.2512G>C (p.Ala838Pro)
5g.78039205C>TCA360332200AP3B1c.2500G>A (p.Ala834Thr)
n.447G>A
c.2540G>A (p.Ser847Asn)
c.1846G>A (p.Ala616Thr)
c.*2409G>A (n.*2409G>A)
c.2590G>A (p.Ala864Thr)
c.2641G>A (p.Ala881Thr)
n.362G>A
c.2647G>A (p.Ala883Thr)
n.2805G>A
n.299G>A
c.*172G>A (n.*172G>A)
c.2467G>A (p.Ala823Thr)
c.2512G>A (p.Ala838Thr)
5g.78039206T>ACA445400358AP3B1c.2499A>T (p.Leu833=)
n.446A>T
c.2539A>T (p.Ser847Cys)
c.1845A>T (p.Leu615=)
c.*2408A>T (n.*2408A>T)
c.2589A>T (p.Leu863=)
c.2640A>T (p.Leu880=)
n.361A>T
c.2646A>T (p.Leu882=)
n.2804A>T
n.298A>T
c.*171A>T (n.*171A>T)
c.2466A>T (p.Leu822=)
c.2511A>T (p.Leu837=)
5g.78039206T>CCA445400359AP3B1c.2499A>G (p.Leu833=)
n.446A>G
c.2539A>G (p.Ser847Gly)
c.1845A>G (p.Leu615=)
c.*2408A>G (n.*2408A>G)
c.2589A>G (p.Leu863=)
c.2640A>G (p.Leu880=)
n.361A>G
c.2646A>G (p.Leu882=)
n.2804A>G
n.298A>G
c.*171A>G (n.*171A>G)
c.2466A>G (p.Leu822=)
c.2511A>G (p.Leu837=)
5g.78039206T>GCA445400360AP3B1c.2499A>C (p.Leu833=)
n.446A>C
c.2539A>C (p.Ser847Arg)
c.1845A>C (p.Leu615=)
c.*2408A>C (n.*2408A>C)
c.2589A>C (p.Leu863=)
c.2640A>C (p.Leu880=)
n.361A>C
c.2646A>C (p.Leu882=)
n.2804A>C
n.298A>C
c.*171A>C (n.*171A>C)
c.2466A>C (p.Leu822=)
c.2511A>C (p.Leu837=)
5g.78039207A>CCA360332202AP3B1c.2498T>G (p.Leu833Arg)
n.445T>G
c.2538T>G (p.Thr846=)
c.1844T>G (p.Leu615Arg)
c.*2407T>G (n.*2407T>G)
c.2588T>G (p.Leu863Arg)
c.2639T>G (p.Leu880Arg)
n.360T>G
c.2645T>G (p.Leu882Arg)
n.2803T>G
n.297T>G
c.*170T>G (n.*170T>G)
c.2465T>G (p.Leu822Arg)
c.2510T>G (p.Leu837Arg)
5g.78039207A>GCA360332203AP3B1c.2498T>C (p.Leu833Pro)
n.445T>C
c.2538T>C (p.Thr846=)
c.1844T>C (p.Leu615Pro)
c.*2407T>C (n.*2407T>C)
c.2588T>C (p.Leu863Pro)
c.2639T>C (p.Leu880Pro)
n.360T>C
c.2645T>C (p.Leu882Pro)
n.2803T>C
n.297T>C
c.*170T>C (n.*170T>C)
c.2465T>C (p.Leu822Pro)
c.2510T>C (p.Leu837Pro)
5g.78039207A>TCA360332201AP3B1c.2498T>A (p.Leu833Gln)
n.445T>A
c.2538T>A (p.Thr846=)
c.1844T>A (p.Leu615Gln)
c.*2407T>A (n.*2407T>A)
c.2588T>A (p.Leu863Gln)
c.2639T>A (p.Leu880Gln)
n.360T>A
c.2645T>A (p.Leu882Gln)
n.2803T>A
n.297T>A
c.*170T>A (n.*170T>A)
c.2465T>A (p.Leu822Gln)
c.2510T>A (p.Leu837Gln)
5g.78039208G>ACA445400362AP3B1c.2497C>T (p.Leu833=)
n.444C>T
c.2537C>T (p.Thr846Ile)
c.1843C>T (p.Leu615=)
c.*2406C>T (n.*2406C>T)
c.2587C>T (p.Leu863=)
c.2638C>T (p.Leu880=)
n.359C>T
c.2644C>T (p.Leu882=)
n.2802C>T
n.296C>T
c.*169C>T (n.*169C>T)
c.2464C>T (p.Leu822=)
c.2509C>T (p.Leu837=)
5g.78039208G>CCA360332204AP3B1c.2497C>G (p.Leu833Val)
n.444C>G
c.2537C>G (p.Thr846Ser)
c.1843C>G (p.Leu615Val)
c.*2406C>G (n.*2406C>G)
c.2587C>G (p.Leu863Val)
c.2638C>G (p.Leu880Val)
n.359C>G
c.2644C>G (p.Leu882Val)
n.2802C>G
n.296C>G
c.*169C>G (n.*169C>G)
c.2464C>G (p.Leu822Val)
c.2509C>G (p.Leu837Val)
5g.78039208G>TCA360332205AP3B1c.2497C>A (p.Leu833Ile)
n.444C>A
c.2537C>A (p.Thr846Asn)
c.1843C>A (p.Leu615Ile)
c.*2406C>A (n.*2406C>A)
c.2587C>A (p.Leu863Ile)
c.2638C>A (p.Leu880Ile)
n.359C>A
c.2644C>A (p.Leu882Ile)
n.2802C>A
n.296C>A
c.*169C>A (n.*169C>A)
c.2464C>A (p.Leu822Ile)
c.2509C>A (p.Leu837Ile)
5g.78039209T>ACA3316705AP3B1c.2496A>T (p.Gly832=)
n.443A>T
c.2536A>T (p.Thr846Ser)
c.1842A>T (p.Gly614=)
c.*2405A>T (n.*2405A>T)
c.2586A>T (p.Gly862=)
c.2637A>T (p.Gly879=)
n.358A>T
c.2643A>T (p.Gly881=)
n.2801A>T
n.295A>T
c.*168A>T (n.*168A>T)
c.2463A>T (p.Gly821=)
c.2508A>T (p.Gly836=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.78039209T>CCA445400367AP3B1c.2496A>G (p.Gly832=)
n.443A>G
c.2536A>G (p.Thr846Ala)
c.1842A>G (p.Gly614=)
c.*2405A>G (n.*2405A>G)
c.2586A>G (p.Gly862=)
c.2637A>G (p.Gly879=)
n.358A>G
c.2643A>G (p.Gly881=)
n.2801A>G
n.295A>G
c.*168A>G (n.*168A>G)
c.2463A>G (p.Gly821=)
c.2508A>G (p.Gly836=)
 dbSNP
5g.78039209T>GCA445400368AP3B1c.2496A>C (p.Gly832=)
n.443A>C
c.2536A>C (p.Thr846Pro)
c.1842A>C (p.Gly614=)
c.*2405A>C (n.*2405A>C)
c.2586A>C (p.Gly862=)
c.2637A>C (p.Gly879=)
n.358A>C
c.2643A>C (p.Gly881=)
n.2801A>C
n.295A>C
c.*168A>C (n.*168A>C)
c.2463A>C (p.Gly821=)
c.2508A>C (p.Gly836=)
 gnomAD v4
5g.78039209T=CA1557269324AP3B1c.2496A= (p.Gly832=)
n.443A=
c.2536A= (p.Thr846=)
c.1842A= (p.Gly614=)
c.*2405A= (n.*2405A=)
c.2586A= (p.Gly862=)
c.2637A= (p.Gly879=)
n.358A=
c.2643A= (p.Gly881=)
n.2801A=
n.295A=
c.*168A= (n.*168A=)
c.2463A= (p.Gly821=)
c.2508A= (p.Gly836=)
5g.78039210C>ACA360332206AP3B1c.2495G>T (p.Gly832Val)
n.442G>T
c.2535G>T (p.Arg845Ser)
c.1841G>T (p.Gly614Val)
c.*2404G>T (n.*2404G>T)
c.2585G>T (p.Gly862Val)
c.2636G>T (p.Gly879Val)
n.357G>T
c.2642G>T (p.Gly881Val)
n.2800G>T
n.294G>T
c.*167G>T (n.*167G>T)
c.2462G>T (p.Gly821Val)
c.2507G>T (p.Gly836Val)
5g.78039210C>GCA360332207AP3B1c.2495G>C (p.Gly832Ala)
n.442G>C
c.2535G>C (p.Arg845Ser)
c.1841G>C (p.Gly614Ala)
c.*2404G>C (n.*2404G>C)
c.2585G>C (p.Gly862Ala)
c.2636G>C (p.Gly879Ala)
n.357G>C
c.2642G>C (p.Gly881Ala)
n.2800G>C
n.294G>C
c.*167G>C (n.*167G>C)
c.2462G>C (p.Gly821Ala)
c.2507G>C (p.Gly836Ala)
5g.78039210C>TCA360332208AP3B1c.2495G>A (p.Gly832Glu)
n.442G>A
c.2535G>A (p.Arg845=)
c.1841G>A (p.Gly614Glu)
c.*2404G>A (n.*2404G>A)
c.2585G>A (p.Gly862Glu)
c.2636G>A (p.Gly879Glu)
n.357G>A
c.2642G>A (p.Gly881Glu)
n.2800G>A
n.294G>A
c.*167G>A (n.*167G>A)
c.2462G>A (p.Gly821Glu)
c.2507G>A (p.Gly836Glu)
5g.78039211C>ACA360332209AP3B1c.2494G>T (p.Gly832Ter)
n.441G>T
c.2534G>T (p.Arg845Met)
c.1840G>T (p.Gly614Ter)
c.*2403G>T (n.*2403G>T)
c.2584G>T (p.Gly862Ter)
c.2635G>T (p.Gly879Ter)
n.356G>T
c.2641G>T (p.Gly881Ter)
n.2799G>T
n.293G>T
c.*166G>T (n.*166G>T)
c.2461G>T (p.Gly821Ter)
c.2506G>T (p.Gly836Ter)
5g.78039211C>GCA360332210AP3B1c.2494G>C (p.Gly832Arg)
n.441G>C
c.2534G>C (p.Arg845Thr)
c.1840G>C (p.Gly614Arg)
c.*2403G>C (n.*2403G>C)
c.2584G>C (p.Gly862Arg)
c.2635G>C (p.Gly879Arg)
n.356G>C
c.2641G>C (p.Gly881Arg)
n.2799G>C
n.293G>C
c.*166G>C (n.*166G>C)
c.2461G>C (p.Gly821Arg)
c.2506G>C (p.Gly836Arg)
 ClinVar dbSNP
5g.78039211C>TCA360332211AP3B1c.2494G>A (p.Gly832Arg)
n.441G>A
c.2534G>A (p.Arg845Lys)
c.1840G>A (p.Gly614Arg)
c.*2403G>A (n.*2403G>A)
c.2584G>A (p.Gly862Arg)
c.2635G>A (p.Gly879Arg)
n.356G>A
c.2641G>A (p.Gly881Arg)
n.2799G>A
n.293G>A
c.*166G>A (n.*166G>A)
c.2461G>A (p.Gly821Arg)
c.2506G>A (p.Gly836Arg)
 gnomAD v4
5g.78039212T>ACA3316706AP3B1c.2493A>T (p.Lys831Asn)
n.440A>T
c.2533A>T (p.Arg845Trp)
c.1839A>T (p.Lys613Asn)
c.*2402A>T (n.*2402A>T)
c.2583A>T (p.Lys861Asn)
c.2634A>T (p.Lys878Asn)
n.355A>T
c.2640A>T (p.Lys880Asn)
n.2798A>T
n.292A>T
c.*165A>T (n.*165A>T)
c.2460A>T (p.Lys820Asn)
c.2505A>T (p.Lys835Asn)
 dbSNP ExAC gnomAD v2
5g.78039212T>CCA445400372AP3B1c.2493A>G (p.Lys831=)
n.440A>G
c.2533A>G (p.Arg845Gly)
c.1839A>G (p.Lys613=)
c.*2402A>G (n.*2402A>G)
c.2583A>G (p.Lys861=)
c.2634A>G (p.Lys878=)
n.355A>G
c.2640A>G (p.Lys880=)
n.2798A>G
n.292A>G
c.*165A>G (n.*165A>G)
c.2460A>G (p.Lys820=)
c.2505A>G (p.Lys835=)
5g.78039212T>GCA360332212AP3B1c.2493A>C (p.Lys831Asn)
n.440A>C
c.2533A>C (p.Arg845=)
c.1839A>C (p.Lys613Asn)
c.*2402A>C (n.*2402A>C)
c.2583A>C (p.Lys861Asn)
c.2634A>C (p.Lys878Asn)
n.355A>C
c.2640A>C (p.Lys880Asn)
n.2798A>C
n.292A>C
c.*165A>C (n.*165A>C)
c.2460A>C (p.Lys820Asn)
c.2505A>C (p.Lys835Asn)
 dbSNP gnomAD v3 gnomAD v4
5g.78039212T=CA1557269327AP3B1c.2493A= (p.Lys831=)
n.440A=
c.2533A= (p.Arg845=)
c.1839A= (p.Lys613=)
c.*2402A= (n.*2402A=)
c.2583A= (p.Lys861=)
c.2634A= (p.Lys878=)
n.355A=
c.2640A= (p.Lys880=)
n.2798A=
n.292A=
c.*165A= (n.*165A=)
c.2460A= (p.Lys820=)
c.2505A= (p.Lys835=)
5g.78039215delCA2695198619AP3B1c.2493del (p.Gly832AspfsTer2)
n.440del
c.2533del (p.Arg845GlyfsTer?)
c.1839del (p.Gly614AspfsTer2)
c.*2402del (n.*2402del)
c.2583del (p.Gly862AspfsTer2)
c.2634del (p.Gly879AspfsTer2)
n.355del
c.2640del (p.Gly881AspfsTer2)
n.2798del
n.292del
c.*165del (n.*165del)
c.2460del (p.Gly821AspfsTer2)
c.2505del (p.Gly836AspfsTer2)
 ClinVar
5g.78039213T>ACA360332213AP3B1c.2492A>T (p.Lys831Ile)
n.439A>T
c.2532A>T (p.Lys844Asn)
c.1838A>T (p.Lys613Ile)
c.*2401A>T (n.*2401A>T)
c.2582A>T (p.Lys861Ile)
c.2633A>T (p.Lys878Ile)
n.354A>T
c.2639A>T (p.Lys880Ile)
n.2797A>T
n.291A>T
c.*164A>T (n.*164A>T)
c.2459A>T (p.Lys820Ile)
c.2504A>T (p.Lys835Ile)
5g.78039213T>CCA360332214AP3B1c.2492A>G (p.Lys831Arg)
n.439A>G
c.2532A>G (p.Lys844=)
c.1838A>G (p.Lys613Arg)
c.*2401A>G (n.*2401A>G)
c.2582A>G (p.Lys861Arg)
c.2633A>G (p.Lys878Arg)
n.354A>G
c.2639A>G (p.Lys880Arg)
n.2797A>G
n.291A>G
c.*164A>G (n.*164A>G)
c.2459A>G (p.Lys820Arg)
c.2504A>G (p.Lys835Arg)
5g.78039213T>GCA360332215AP3B1c.2492A>C (p.Lys831Thr)
n.439A>C
c.2532A>C (p.Lys844Asn)
c.1838A>C (p.Lys613Thr)
c.*2401A>C (n.*2401A>C)
c.2582A>C (p.Lys861Thr)
c.2633A>C (p.Lys878Thr)
n.354A>C
c.2639A>C (p.Lys880Thr)
n.2797A>C
n.291A>C
c.*164A>C (n.*164A>C)
c.2459A>C (p.Lys820Thr)
c.2504A>C (p.Lys835Thr)
5g.78039214T>ACA360332218AP3B1c.2491A>T (p.Lys831Ter)
n.438A>T
c.2531A>T (p.Lys844Ile)
c.1837A>T (p.Lys613Ter)
c.*2400A>T (n.*2400A>T)
c.2581A>T (p.Lys861Ter)
c.2632A>T (p.Lys878Ter)
n.353A>T
c.2638A>T (p.Lys880Ter)
n.2796A>T
n.290A>T
c.*163A>T (n.*163A>T)
c.2458A>T (p.Lys820Ter)
c.2503A>T (p.Lys835Ter)
5g.78039214T>CCA360332216AP3B1c.2491A>G (p.Lys831Glu)
n.438A>G
c.2531A>G (p.Lys844Arg)
c.1837A>G (p.Lys613Glu)
c.*2400A>G (n.*2400A>G)
c.2581A>G (p.Lys861Glu)
c.2632A>G (p.Lys878Glu)
n.353A>G
c.2638A>G (p.Lys880Glu)
n.2796A>G
n.290A>G
c.*163A>G (n.*163A>G)
c.2458A>G (p.Lys820Glu)
c.2503A>G (p.Lys835Glu)
 dbSNP gnomAD v2 gnomAD v4
5g.78039214T>GCA360332217AP3B1c.2491A>C (p.Lys831Gln)
n.438A>C
c.2531A>C (p.Lys844Thr)
c.1837A>C (p.Lys613Gln)
c.*2400A>C (n.*2400A>C)
c.2581A>C (p.Lys861Gln)
c.2632A>C (p.Lys878Gln)
n.353A>C
c.2638A>C (p.Lys880Gln)
n.2796A>C
n.290A>C
c.*163A>C (n.*163A>C)
c.2458A>C (p.Lys820Gln)
c.2503A>C (p.Lys835Gln)
 dbSNP gnomAD v2 gnomAD v4
5g.78039214T=CA1557269329AP3B1c.2491A= (p.Lys831=)
n.438A=
c.2531A= (p.Lys844=)
c.1837A= (p.Lys613=)
c.*2400A= (n.*2400A=)
c.2581A= (p.Lys861=)
c.2632A= (p.Lys878=)
n.353A=
c.2638A= (p.Lys880=)
n.2796A=
n.290A=
c.*163A= (n.*163A=)
c.2458A= (p.Lys820=)
c.2503A= (p.Lys835=)
5g.78039215T>ACA445400381AP3B1c.2490A>T (p.Gly830=)
n.437A>T
c.2530A>T (p.Lys844Ter)
c.1836A>T (p.Gly612=)
c.*2399A>T (n.*2399A>T)
c.2580A>T (p.Gly860=)
c.2631A>T (p.Gly877=)
n.352A>T
c.2637A>T (p.Gly879=)
n.2795A>T
n.289A>T
c.*162A>T (n.*162A>T)
c.2457A>T (p.Gly819=)
c.2502A>T (p.Gly834=)
5g.78039215T>CCA445400383AP3B1c.2490A>G (p.Gly830=)
n.437A>G
c.2530A>G (p.Lys844Glu)
c.1836A>G (p.Gly612=)
c.*2399A>G (n.*2399A>G)
c.2580A>G (p.Gly860=)
c.2631A>G (p.Gly877=)
n.352A>G
c.2637A>G (p.Gly879=)
n.2795A>G
n.289A>G
c.*162A>G (n.*162A>G)
c.2457A>G (p.Gly819=)
c.2502A>G (p.Gly834=)
5g.78039215T>GCA445400384AP3B1c.2490A>C (p.Gly830=)
n.437A>C
c.2530A>C (p.Lys844Gln)
c.1836A>C (p.Gly612=)
c.*2399A>C (n.*2399A>C)
c.2580A>C (p.Gly860=)
c.2631A>C (p.Gly877=)
n.352A>C
c.2637A>C (p.Gly879=)
n.2795A>C
n.289A>C
c.*162A>C (n.*162A>C)
c.2457A>C (p.Gly819=)
c.2502A>C (p.Gly834=)
5g.78039216C>ACA360332219AP3B1c.2489G>T (p.Gly830Val)
n.436G>T
c.2529G>T (p.Trp843Cys)
c.1835G>T (p.Gly612Val)
c.*2398G>T (n.*2398G>T)
c.2579G>T (p.Gly860Val)
c.2630G>T (p.Gly877Val)
n.351G>T
c.2636G>T (p.Gly879Val)
n.2794G>T
n.288G>T
c.*161G>T (n.*161G>T)
c.2456G>T (p.Gly819Val)
c.2501G>T (p.Gly834Val)
5g.78039216C=CA1557269331AP3B1c.2489G= (p.Gly830=)
n.436G=
c.2529G= (p.Trp843=)
c.1835G= (p.Gly612=)
c.*2398G= (n.*2398G=)
c.2579G= (p.Gly860=)
c.2630G= (p.Gly877=)
n.351G=
c.2636G= (p.Gly879=)
n.2794G=
n.288G=
c.*161G= (n.*161G=)
c.2456G= (p.Gly819=)
c.2501G= (p.Gly834=)
5g.78039216C>GCA360332220AP3B1c.2489G>C (p.Gly830Ala)
n.436G>C
c.2529G>C (p.Trp843Cys)
c.1835G>C (p.Gly612Ala)
c.*2398G>C (n.*2398G>C)
c.2579G>C (p.Gly860Ala)
c.2630G>C (p.Gly877Ala)
n.351G>C
c.2636G>C (p.Gly879Ala)
n.2794G>C
n.288G>C
c.*161G>C (n.*161G>C)
c.2456G>C (p.Gly819Ala)
c.2501G>C (p.Gly834Ala)
5g.78039216C>TCA121596998AP3B1c.2489G>A (p.Gly830Glu)
n.436G>A
c.2529G>A (p.Trp843Ter)
c.1835G>A (p.Gly612Glu)
c.*2398G>A (n.*2398G>A)
c.2579G>A (p.Gly860Glu)
c.2630G>A (p.Gly877Glu)
n.351G>A
c.2636G>A (p.Gly879Glu)
n.2794G>A
n.288G>A
c.*161G>A (n.*161G>A)
c.2456G>A (p.Gly819Glu)
c.2501G>A (p.Gly834Glu)
 dbSNP
5g.78039217C>ACA360332221AP3B1c.2488G>T (p.Gly830Ter)
n.435G>T
c.2528G>T (p.Trp843Leu)
c.1834G>T (p.Gly612Ter)
c.*2397G>T (n.*2397G>T)
c.2578G>T (p.Gly860Ter)
c.2629G>T (p.Gly877Ter)
n.350G>T
c.2635G>T (p.Gly879Ter)
n.2793G>T
n.287G>T
c.*160G>T (n.*160G>T)
c.2455G>T (p.Gly819Ter)
c.2500G>T (p.Gly834Ter)
5g.78039217C>GCA360332222AP3B1c.2488G>C (p.Gly830Arg)
n.435G>C
c.2528G>C (p.Trp843Ser)
c.1834G>C (p.Gly612Arg)
c.*2397G>C (n.*2397G>C)
c.2578G>C (p.Gly860Arg)
c.2629G>C (p.Gly877Arg)
n.350G>C
c.2635G>C (p.Gly879Arg)
n.2793G>C
n.287G>C
c.*160G>C (n.*160G>C)
c.2455G>C (p.Gly819Arg)
c.2500G>C (p.Gly834Arg)
5g.78039217C>TCA360332223AP3B1c.2488G>A (p.Gly830Arg)
n.435G>A
c.2528G>A (p.Trp843Ter)
c.1834G>A (p.Gly612Arg)
c.*2397G>A (n.*2397G>A)
c.2578G>A (p.Gly860Arg)
c.2629G>A (p.Gly877Arg)
n.350G>A
c.2635G>A (p.Gly879Arg)
n.2793G>A
n.287G>A
c.*160G>A (n.*160G>A)
c.2455G>A (p.Gly819Arg)
c.2500G>A (p.Gly834Arg)
5g.78039218A>CCA360332224AP3B1c.2487T>G (p.Ser829Arg)
n.434T>G
c.2527T>G (p.Trp843Gly)
c.1833T>G (p.Ser611Arg)
c.*2396T>G (n.*2396T>G)
c.2577T>G (p.Ser859Arg)
c.2628T>G (p.Ser876Arg)
n.349T>G
c.2634T>G (p.Ser878Arg)
n.2792T>G
n.286T>G
c.*159T>G (n.*159T>G)
c.2454T>G (p.Ser818Arg)
c.2499T>G (p.Ser833Arg)
5g.78039218A>GCA445400003AP3B1c.2487T>C (p.Ser829=)
n.434T>C
c.2527T>C (p.Trp843Arg)
c.1833T>C (p.Ser611=)
c.*2396T>C (n.*2396T>C)
c.2577T>C (p.Ser859=)
c.2628T>C (p.Ser876=)
n.349T>C
c.2634T>C (p.Ser878=)
n.2792T>C
n.286T>C
c.*159T>C (n.*159T>C)
c.2454T>C (p.Ser818=)
c.2499T>C (p.Ser833=)
5g.78039218A>TCA360332225AP3B1c.2487T>A (p.Ser829Arg)
n.434T>A
c.2527T>A (p.Trp843Arg)
c.1833T>A (p.Ser611Arg)
c.*2396T>A (n.*2396T>A)
c.2577T>A (p.Ser859Arg)
c.2628T>A (p.Ser876Arg)
n.349T>A
c.2634T>A (p.Ser878Arg)
n.2792T>A
n.286T>A
c.*159T>A (n.*159T>A)
c.2454T>A (p.Ser818Arg)
c.2499T>A (p.Ser833Arg)
5g.78039219C>ACA360332226AP3B1c.2486G>T (p.Ser829Ile)
n.433G>T
c.2526G>T (p.Glu842Asp)
c.1832G>T (p.Ser611Ile)
c.*2395G>T (n.*2395G>T)
c.2576G>T (p.Ser859Ile)
c.2627G>T (p.Ser876Ile)
n.348G>T
c.2633G>T (p.Ser878Ile)
n.2791G>T
n.285G>T
c.*158G>T (n.*158G>T)
c.2453G>T (p.Ser818Ile)
c.2498G>T (p.Ser833Ile)
5g.78039219C=CA1557269334AP3B1c.2486G= (p.Ser829=)
n.433G=
c.2526G= (p.Glu842=)
c.1832G= (p.Ser611=)
c.*2395G= (n.*2395G=)
c.2576G= (p.Ser859=)
c.2627G= (p.Ser876=)
n.348G=
c.2633G= (p.Ser878=)
n.2791G=
n.285G=
c.*158G= (n.*158G=)
c.2453G= (p.Ser818=)
c.2498G= (p.Ser833=)
5g.78039219C>GCA360332227AP3B1c.2486G>C (p.Ser829Thr)
n.433G>C
c.2526G>C (p.Glu842Asp)
c.1832G>C (p.Ser611Thr)
c.*2395G>C (n.*2395G>C)
c.2576G>C (p.Ser859Thr)
c.2627G>C (p.Ser876Thr)
n.348G>C
c.2633G>C (p.Ser878Thr)
n.2791G>C
n.285G>C
c.*158G>C (n.*158G>C)
c.2453G>C (p.Ser818Thr)
c.2498G>C (p.Ser833Thr)
5g.78039219C>TCA360332228AP3B1c.2486G>A (p.Ser829Asn)
n.433G>A
c.2526G>A (p.Glu842=)
c.1832G>A (p.Ser611Asn)
c.*2395G>A (n.*2395G>A)
c.2576G>A (p.Ser859Asn)
c.2627G>A (p.Ser876Asn)
n.348G>A
c.2633G>A (p.Ser878Asn)
n.2791G>A
n.285G>A
c.*158G>A (n.*158G>A)
c.2453G>A (p.Ser818Asn)
c.2498G>A (p.Ser833Asn)
 dbSNP gnomAD v3 gnomAD v4
5g.78039220T>ACA360332231AP3B1c.2485A>T (p.Ser829Cys)
n.432A>T
c.2525A>T (p.Glu842Val)
c.1831A>T (p.Ser611Cys)
c.*2394A>T (n.*2394A>T)
c.2575A>T (p.Ser859Cys)
c.2626A>T (p.Ser876Cys)
n.347A>T
c.2632A>T (p.Ser878Cys)
n.2790A>T
n.284A>T
c.*157A>T (n.*157A>T)
c.2452A>T (p.Ser818Cys)
c.2497A>T (p.Ser833Cys)
5g.78039220T>CCA360332230AP3B1c.2485A>G (p.Ser829Gly)
n.432A>G
c.2525A>G (p.Glu842Gly)
c.1831A>G (p.Ser611Gly)
c.*2394A>G (n.*2394A>G)
c.2575A>G (p.Ser859Gly)
c.2626A>G (p.Ser876Gly)
n.347A>G
c.2632A>G (p.Ser878Gly)
n.2790A>G
n.284A>G
c.*157A>G (n.*157A>G)
c.2452A>G (p.Ser818Gly)
c.2497A>G (p.Ser833Gly)
 ClinVar dbSNP
5g.78039220T>GCA360332229AP3B1c.2485A>C (p.Ser829Arg)
n.432A>C
c.2525A>C (p.Glu842Ala)
c.1831A>C (p.Ser611Arg)
c.*2394A>C (n.*2394A>C)
c.2575A>C (p.Ser859Arg)
c.2626A>C (p.Ser876Arg)
n.347A>C
c.2632A>C (p.Ser878Arg)
n.2790A>C
n.284A>C
c.*157A>C (n.*157A>C)
c.2452A>C (p.Ser818Arg)
c.2497A>C (p.Ser833Arg)
5g.78039221C>ACA360332232AP3B1c.2484G>T (p.Met828Ile)
n.431G>T
c.2524G>T (p.Glu842Ter)
c.1830G>T (p.Met610Ile)
c.*2393G>T (n.*2393G>T)
c.2574G>T (p.Met858Ile)
c.2625G>T (p.Met875Ile)
n.346G>T
c.2631G>T (p.Met877Ile)
n.2789G>T
n.283G>T
c.*156G>T (n.*156G>T)
c.2451G>T (p.Met817Ile)
c.2496G>T (p.Met832Ile)
5g.78039221C>GCA360332233AP3B1c.2484G>C (p.Met828Ile)
n.431G>C
c.2524G>C (p.Glu842Gln)
c.1830G>C (p.Met610Ile)
c.*2393G>C (n.*2393G>C)
c.2574G>C (p.Met858Ile)
c.2625G>C (p.Met875Ile)
n.346G>C
c.2631G>C (p.Met877Ile)
n.2789G>C
n.283G>C
c.*156G>C (n.*156G>C)
c.2451G>C (p.Met817Ile)
c.2496G>C (p.Met832Ile)
5g.78039221C>TCA360332234AP3B1c.2484G>A (p.Met828Ile)
n.431G>A
c.2524G>A (p.Glu842Lys)
c.1830G>A (p.Met610Ile)
c.*2393G>A (n.*2393G>A)
c.2574G>A (p.Met858Ile)
c.2625G>A (p.Met875Ile)
n.346G>A
c.2631G>A (p.Met877Ile)
n.2789G>A
n.283G>A
c.*156G>A (n.*156G>A)
c.2451G>A (p.Met817Ile)
c.2496G>A (p.Met832Ile)
5g.78039222A>CCA360332235AP3B1c.2483T>G (p.Met828Arg)
n.430T>G
c.2523T>G (p.Asn841Lys)
c.1829T>G (p.Met610Arg)
c.*2392T>G (n.*2392T>G)
c.2573T>G (p.Met858Arg)
c.2624T>G (p.Met875Arg)
n.345T>G
c.2630T>G (p.Met877Arg)
n.2788T>G
n.282T>G
c.*155T>G (n.*155T>G)
c.2450T>G (p.Met817Arg)
c.2495T>G (p.Met832Arg)
5g.78039222A>GCA360332236AP3B1c.2483T>C (p.Met828Thr)
n.430T>C
c.2523T>C (p.Asn841=)
c.1829T>C (p.Met610Thr)
c.*2392T>C (n.*2392T>C)
c.2573T>C (p.Met858Thr)
c.2624T>C (p.Met875Thr)
n.345T>C
c.2630T>C (p.Met877Thr)
n.2788T>C
n.282T>C
c.*155T>C (n.*155T>C)
c.2450T>C (p.Met817Thr)
c.2495T>C (p.Met832Thr)
5g.78039222A>TCA360332237AP3B1c.2483T>A (p.Met828Lys)
n.430T>A
c.2523T>A (p.Asn841Lys)
c.1829T>A (p.Met610Lys)
c.*2392T>A (n.*2392T>A)
c.2573T>A (p.Met858Lys)
c.2624T>A (p.Met875Lys)
n.345T>A
c.2630T>A (p.Met877Lys)
n.2788T>A
n.282T>A
c.*155T>A (n.*155T>A)
c.2450T>A (p.Met817Lys)
c.2495T>A (p.Met832Lys)
5g.78039223T>ACA360332238AP3B1c.2482A>T (p.Met828Leu)
n.429A>T
c.2522A>T (p.Asn841Ile)
c.1828A>T (p.Met610Leu)
c.*2391A>T (n.*2391A>T)
c.2572A>T (p.Met858Leu)
c.2623A>T (p.Met875Leu)
n.344A>T
c.2629A>T (p.Met877Leu)
n.2787A>T
n.281A>T
c.*154A>T (n.*154A>T)
c.2449A>T (p.Met817Leu)
c.2494A>T (p.Met832Leu)
5g.78039223T>CCA360332239AP3B1c.2482A>G (p.Met828Val)
n.429A>G
c.2522A>G (p.Asn841Ser)
c.1828A>G (p.Met610Val)
c.*2391A>G (n.*2391A>G)
c.2572A>G (p.Met858Val)
c.2623A>G (p.Met875Val)
n.344A>G
c.2629A>G (p.Met877Val)
n.2787A>G
n.281A>G
c.*154A>G (n.*154A>G)
c.2449A>G (p.Met817Val)
c.2494A>G (p.Met832Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.78039223T>GCA360332240AP3B1c.2482A>C (p.Met828Leu)
n.429A>C
c.2522A>C (p.Asn841Thr)
c.1828A>C (p.Met610Leu)
c.*2391A>C (n.*2391A>C)
c.2572A>C (p.Met858Leu)
c.2623A>C (p.Met875Leu)
n.344A>C
c.2629A>C (p.Met877Leu)
n.2787A>C
n.281A>C
c.*154A>C (n.*154A>C)
c.2449A>C (p.Met817Leu)
c.2494A>C (p.Met832Leu)
5g.78039223T=CA1557269338AP3B1c.2482A= (p.Met828=)
n.429A=
c.2522A= (p.Asn841=)
c.1828A= (p.Met610=)
c.*2391A= (n.*2391A=)
c.2572A= (p.Met858=)
c.2623A= (p.Met875=)
n.344A=
c.2629A= (p.Met877=)
n.2787A=
n.281A=
c.*154A= (n.*154A=)
c.2449A= (p.Met817=)
c.2494A= (p.Met832=)
5g.78039224T>ACA445400014AP3B1c.2481A>T (p.Arg827=)
n.428A>T
c.2521A>T (p.Asn841Tyr)
c.1827A>T (p.Arg609=)
c.*2390A>T (n.*2390A>T)
c.2571A>T (p.Arg857=)
c.2622A>T (p.Arg874=)
n.343A>T
c.2628A>T (p.Arg876=)
n.2786A>T
n.280A>T
c.*153A>T (n.*153A>T)
c.2448A>T (p.Arg816=)
c.2493A>T (p.Arg831=)
5g.78039224T>CCA445400013AP3B1c.2481A>G (p.Arg827=)
n.428A>G
c.2521A>G (p.Asn841Asp)
c.1827A>G (p.Arg609=)
c.*2390A>G (n.*2390A>G)
c.2571A>G (p.Arg857=)
c.2622A>G (p.Arg874=)
n.343A>G
c.2628A>G (p.Arg876=)
n.2786A>G
n.280A>G
c.*153A>G (n.*153A>G)
c.2448A>G (p.Arg816=)
c.2493A>G (p.Arg831=)
5g.78039224T>GCA445400011AP3B1c.2481A>C (p.Arg827=)
n.428A>C
c.2521A>C (p.Asn841His)
c.1827A>C (p.Arg609=)
c.*2390A>C (n.*2390A>C)
c.2571A>C (p.Arg857=)
c.2622A>C (p.Arg874=)
n.343A>C
c.2628A>C (p.Arg876=)
n.2786A>C
n.280A>C
c.*153A>C (n.*153A>C)
c.2448A>C (p.Arg816=)
c.2493A>C (p.Arg831=)
5g.78039225C>ACA360332241AP3B1c.2480G>T (p.Arg827Leu)
n.427G>T
c.2520G>T (p.Ser840=)
c.1826G>T (p.Arg609Leu)
c.*2389G>T (n.*2389G>T)
c.2570G>T (p.Arg857Leu)
c.2621G>T (p.Arg874Leu)
n.342G>T
c.2627G>T (p.Arg876Leu)
n.2785G>T
n.279G>T
c.*152G>T (n.*152G>T)
c.2447G>T (p.Arg816Leu)
c.2492G>T (p.Arg831Leu)
5g.78039225C=CA1557269341AP3B1c.2480G= (p.Arg827=)
n.427G=
c.2520G= (p.Ser840=)
c.1826G= (p.Arg609=)
c.*2389G= (n.*2389G=)
c.2570G= (p.Arg857=)
c.2621G= (p.Arg874=)
n.342G=
c.2627G= (p.Arg876=)
n.2785G=
n.279G=
c.*152G= (n.*152G=)
c.2447G= (p.Arg816=)
c.2492G= (p.Arg831=)
5g.78039225C>GCA360332242AP3B1c.2480G>C (p.Arg827Pro)
n.427G>C
c.2520G>C (p.Ser840=)
c.1826G>C (p.Arg609Pro)
c.*2389G>C (n.*2389G>C)
c.2570G>C (p.Arg857Pro)
c.2621G>C (p.Arg874Pro)
n.342G>C
c.2627G>C (p.Arg876Pro)
n.2785G>C
n.279G>C
c.*152G>C (n.*152G>C)
c.2447G>C (p.Arg816Pro)
c.2492G>C (p.Arg831Pro)
 dbSNP
5g.78039225C>TCA3316707AP3B1c.2480G>A (p.Arg827Gln)
n.427G>A
c.2520G>A (p.Ser840=)
c.1826G>A (p.Arg609Gln)
c.*2389G>A (n.*2389G>A)
c.2570G>A (p.Arg857Gln)
c.2621G>A (p.Arg874Gln)
n.342G>A
c.2627G>A (p.Arg876Gln)
n.2785G>A
n.279G>A
c.*152G>A (n.*152G>A)
c.2447G>A (p.Arg816Gln)
c.2492G>A (p.Arg831Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.78039226G>ACA3316709AP3B1c.2479C>T (p.Arg827Ter)
n.426C>T
c.2519C>T (p.Ser840Leu)
c.1825C>T (p.Arg609Ter)
c.*2388C>T (n.*2388C>T)
c.2569C>T (p.Arg857Ter)
c.2620C>T (p.Arg874Ter)
n.341C>T
c.2626C>T (p.Arg876Ter)
n.2784C>T
n.278C>T
c.*151C>T (n.*151C>T)
c.2446C>T (p.Arg816Ter)
c.2491C>T (p.Arg831Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.78039226G>CCA360332243AP3B1c.2479C>G (p.Arg827Gly)
n.426C>G
c.2519C>G (p.Ser840Trp)
c.1825C>G (p.Arg609Gly)
c.*2388C>G (n.*2388C>G)
c.2569C>G (p.Arg857Gly)
c.2620C>G (p.Arg874Gly)
n.341C>G
c.2626C>G (p.Arg876Gly)
n.2784C>G
n.278C>G
c.*151C>G (n.*151C>G)
c.2446C>G (p.Arg816Gly)
c.2491C>G (p.Arg831Gly)
5g.78039226G=CA1557269345AP3B1c.2479C= (p.Arg827=)
n.426C=
c.2519C= (p.Ser840=)
c.1825C= (p.Arg609=)
c.*2388C= (n.*2388C=)
c.2569C= (p.Arg857=)
c.2620C= (p.Arg874=)
n.341C=
c.2626C= (p.Arg876=)
n.2784C=
n.278C=
c.*151C= (n.*151C=)
c.2446C= (p.Arg816=)
c.2491C= (p.Arg831=)
5g.78039226G>TCA3316708AP3B1c.2479C>A (p.Arg827=)
n.426C>A
c.2519C>A (p.Ser840Ter)
c.1825C>A (p.Arg609=)
c.*2388C>A (n.*2388C>A)
c.2569C>A (p.Arg857=)
c.2620C>A (p.Arg874=)
n.341C>A
c.2626C>A (p.Arg876=)
n.2784C>A
n.278C>A
c.*151C>A (n.*151C>A)
c.2446C>A (p.Arg816=)
c.2491C>A (p.Arg831=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.78039227A>CCA360332244AP3B1c.2478T>G (p.His826Gln)
n.425T>G
c.2518T>G (p.Ser840Ala)
c.1824T>G (p.His608Gln)
c.*2387T>G (n.*2387T>G)
c.2568T>G (p.His856Gln)
c.2619T>G (p.His873Gln)
n.340T>G
c.2625T>G (p.His875Gln)
n.2783T>G
n.277T>G
c.*150T>G (n.*150T>G)
c.2445T>G (p.His815Gln)
c.2490T>G (p.His830Gln)
5g.78039227A>GCA445400017AP3B1c.2478T>C (p.His826=)
n.425T>C
c.2518T>C (p.Ser840Pro)
c.1824T>C (p.His608=)
c.*2387T>C (n.*2387T>C)
c.2568T>C (p.His856=)
c.2619T>C (p.His873=)
n.340T>C
c.2625T>C (p.His875=)
n.2783T>C
n.277T>C
c.*150T>C (n.*150T>C)
c.2445T>C (p.His815=)
c.2490T>C (p.His830=)
5g.78039227A>TCA360332245AP3B1c.2478T>A (p.His826Gln)
n.425T>A
c.2518T>A (p.Ser840Thr)
c.1824T>A (p.His608Gln)
c.*2387T>A (n.*2387T>A)
c.2568T>A (p.His856Gln)
c.2619T>A (p.His873Gln)
n.340T>A
c.2625T>A (p.His875Gln)
n.2783T>A
n.277T>A
c.*150T>A (n.*150T>A)
c.2445T>A (p.His815Gln)
c.2490T>A (p.His830Gln)
5g.78039228T>ACA360332246AP3B1c.2477A>T (p.His826Leu)
n.424A>T
c.2517A>T (p.Ser839=)
c.1823A>T (p.His608Leu)
c.*2386A>T (n.*2386A>T)
c.2567A>T (p.His856Leu)
c.2618A>T (p.His873Leu)
n.339A>T
c.2624A>T (p.His875Leu)
n.2782A>T
n.276A>T
c.*149A>T (n.*149A>T)
c.2444A>T (p.His815Leu)
c.2489A>T (p.His830Leu)
5g.78039228T>CCA360332247AP3B1c.2477A>G (p.His826Arg)
n.424A>G
c.2517A>G (p.Ser839=)
c.1823A>G (p.His608Arg)
c.*2386A>G (n.*2386A>G)
c.2567A>G (p.His856Arg)
c.2618A>G (p.His873Arg)
n.339A>G
c.2624A>G (p.His875Arg)
n.2782A>G
n.276A>G
c.*149A>G (n.*149A>G)
c.2444A>G (p.His815Arg)
c.2489A>G (p.His830Arg)
5g.78039228T>GCA360332248AP3B1c.2477A>C (p.His826Pro)
n.424A>C
c.2517A>C (p.Ser839=)
c.1823A>C (p.His608Pro)
c.*2386A>C (n.*2386A>C)
c.2567A>C (p.His856Pro)
c.2618A>C (p.His873Pro)
n.339A>C
c.2624A>C (p.His875Pro)
n.2782A>C
n.276A>C
c.*149A>C (n.*149A>C)
c.2444A>C (p.His815Pro)
c.2489A>C (p.His830Pro)
5g.78039229G>ACA360332249AP3B1c.2476C>T (p.His826Tyr)
n.423C>T
c.2516C>T (p.Ser839Leu)
c.1822C>T (p.His608Tyr)
c.*2385C>T (n.*2385C>T)
c.2566C>T (p.His856Tyr)
c.2617C>T (p.His873Tyr)
n.338C>T
c.2623C>T (p.His875Tyr)
n.2781C>T
n.275C>T
c.*148C>T (n.*148C>T)
c.2443C>T (p.His815Tyr)
c.2488C>T (p.His830Tyr)
 gnomAD v4
5g.78039229G>CCA360332250AP3B1c.2476C>G (p.His826Asp)
n.423C>G
c.2516C>G (p.Ser839Ter)
c.1822C>G (p.His608Asp)
c.*2385C>G (n.*2385C>G)
c.2566C>G (p.His856Asp)
c.2617C>G (p.His873Asp)
n.338C>G
c.2623C>G (p.His875Asp)
n.2781C>G
n.275C>G
c.*148C>G (n.*148C>G)
c.2443C>G (p.His815Asp)
c.2488C>G (p.His830Asp)
5g.78039229G>TCA360332251AP3B1c.2476C>A (p.His826Asn)
n.423C>A
c.2516C>A (p.Ser839Ter)
c.1822C>A (p.His608Asn)
c.*2385C>A (n.*2385C>A)
c.2566C>A (p.His856Asn)
c.2617C>A (p.His873Asn)
n.338C>A
c.2623C>A (p.His875Asn)
n.2781C>A
n.275C>A
c.*148C>A (n.*148C>A)
c.2443C>A (p.His815Asn)
c.2488C>A (p.His830Asn)
5g.78039230A=CA1557269350AP3B1c.2475T= (p.Leu825=)
n.422T=
c.2515T= (p.Ser839=)
c.1821T= (p.Leu607=)
c.*2384T= (n.*2384T=)
c.2565T= (p.Leu855=)
c.2616T= (p.Leu872=)
n.337T=
c.2622T= (p.Leu874=)
n.2780T=
n.274T=
c.*147T= (n.*147T=)
c.2442T= (p.Leu814=)
c.2487T= (p.Leu829=)
5g.78039230A>CCA445400021AP3B1c.2475T>G (p.Leu825=)
n.422T>G
c.2515T>G (p.Ser839Ala)
c.1821T>G (p.Leu607=)
c.*2384T>G (n.*2384T>G)
c.2565T>G (p.Leu855=)
c.2616T>G (p.Leu872=)
n.337T>G
c.2622T>G (p.Leu874=)
n.2780T>G
n.274T>G
c.*147T>G (n.*147T>G)
c.2442T>G (p.Leu814=)
c.2487T>G (p.Leu829=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.78039230A>GCA445400022AP3B1c.2475T>C (p.Leu825=)
n.422T>C
c.2515T>C (p.Ser839Pro)
c.1821T>C (p.Leu607=)
c.*2384T>C (n.*2384T>C)
c.2565T>C (p.Leu855=)
c.2616T>C (p.Leu872=)
n.337T>C
c.2622T>C (p.Leu874=)
n.2780T>C
n.274T>C
c.*147T>C (n.*147T>C)
c.2442T>C (p.Leu814=)
c.2487T>C (p.Leu829=)
5g.78039230A>TCA445400023AP3B1c.2475T>A (p.Leu825=)
n.422T>A
c.2515T>A (p.Ser839Thr)
c.1821T>A (p.Leu607=)
c.*2384T>A (n.*2384T>A)
c.2565T>A (p.Leu855=)
c.2616T>A (p.Leu872=)
n.337T>A
c.2622T>A (p.Leu874=)
n.2780T>A
n.274T>A
c.*147T>A (n.*147T>A)
c.2442T>A (p.Leu814=)
c.2487T>A (p.Leu829=)
5g.78039231A>CCA360332252AP3B1c.2474T>G (p.Leu825Arg)
n.421T>G
c.2514T>G (p.Ala838=)
c.1820T>G (p.Leu607Arg)
c.*2383T>G (n.*2383T>G)
c.2564T>G (p.Leu855Arg)
c.2615T>G (p.Leu872Arg)
n.336T>G
c.2621T>G (p.Leu874Arg)
n.2779T>G
n.273T>G
c.*146T>G (n.*146T>G)
c.2441T>G (p.Leu814Arg)
c.2486T>G (p.Leu829Arg)
5g.78039231A>GCA360332253AP3B1c.2474T>C (p.Leu825Pro)
n.421T>C
c.2514T>C (p.Ala838=)
c.1820T>C (p.Leu607Pro)
c.*2383T>C (n.*2383T>C)
c.2564T>C (p.Leu855Pro)
c.2615T>C (p.Leu872Pro)
n.336T>C
c.2621T>C (p.Leu874Pro)
n.2779T>C
n.273T>C
c.*146T>C (n.*146T>C)
c.2441T>C (p.Leu814Pro)
c.2486T>C (p.Leu829Pro)
 gnomAD v4
5g.78039231A>TCA360332254AP3B1c.2474T>A (p.Leu825His)
n.421T>A
c.2514T>A (p.Ala838=)
c.1820T>A (p.Leu607His)
c.*2383T>A (n.*2383T>A)
c.2564T>A (p.Leu855His)
c.2615T>A (p.Leu872His)
n.336T>A
c.2621T>A (p.Leu874His)
n.2779T>A
n.273T>A
c.*146T>A (n.*146T>A)
c.2441T>A (p.Leu814His)
c.2486T>A (p.Leu829His)
5g.78039232G>ACA360332257AP3B1c.2473C>T (p.Leu825Phe)
n.420C>T
c.2513C>T (p.Ala838Val)
c.1819C>T (p.Leu607Phe)
c.*2382C>T (n.*2382C>T)
c.2563C>T (p.Leu855Phe)
c.2614C>T (p.Leu872Phe)
n.335C>T
c.2620C>T (p.Leu874Phe)
n.2778C>T
n.272C>T
c.*145C>T (n.*145C>T)
c.2440C>T (p.Leu814Phe)
c.2485C>T (p.Leu829Phe)
5g.78039232G>CCA360332256AP3B1c.2473C>G (p.Leu825Val)
n.420C>G
c.2513C>G (p.Ala838Gly)
c.1819C>G (p.Leu607Val)
c.*2382C>G (n.*2382C>G)
c.2563C>G (p.Leu855Val)
c.2614C>G (p.Leu872Val)
n.335C>G
c.2620C>G (p.Leu874Val)
n.2778C>G
n.272C>G
c.*145C>G (n.*145C>G)
c.2440C>G (p.Leu814Val)
c.2485C>G (p.Leu829Val)
5g.78039232G>TCA360332255AP3B1c.2473C>A (p.Leu825Ile)
n.420C>A
c.2513C>A (p.Ala838Asp)
c.1819C>A (p.Leu607Ile)
c.*2382C>A (n.*2382C>A)
c.2563C>A (p.Leu855Ile)
c.2614C>A (p.Leu872Ile)
n.335C>A
c.2620C>A (p.Leu874Ile)
n.2778C>A
n.272C>A
c.*145C>A (n.*145C>A)
c.2440C>A (p.Leu814Ile)
c.2485C>A (p.Leu829Ile)
5g.78039233C>ACA445400027AP3B1c.2472G>T (p.Leu824=)
n.419G>T
c.2512G>T (p.Ala838Ser)
c.1818G>T (p.Leu606=)
c.*2381G>T (n.*2381G>T)
c.2562G>T (p.Leu854=)
c.2613G>T (p.Leu871=)
n.334G>T
c.2619G>T (p.Leu873=)
n.2777G>T
n.271G>T
c.*144G>T (n.*144G>T)
c.2439G>T (p.Leu813=)
c.2484G>T (p.Leu828=)
5g.78039233C>GCA445400028AP3B1c.2472G>C (p.Leu824=)
n.419G>C
c.2512G>C (p.Ala838Pro)
c.1818G>C (p.Leu606=)
c.*2381G>C (n.*2381G>C)
c.2562G>C (p.Leu854=)
c.2613G>C (p.Leu871=)
n.334G>C
c.2619G>C (p.Leu873=)
n.2777G>C
n.271G>C
c.*144G>C (n.*144G>C)
c.2439G>C (p.Leu813=)
c.2484G>C (p.Leu828=)
5g.78039233C>TCA445400029AP3B1c.2472G>A (p.Leu824=)
n.419G>A
c.2512G>A (p.Ala838Thr)
c.1818G>A (p.Leu606=)
c.*2381G>A (n.*2381G>A)
c.2562G>A (p.Leu854=)
c.2613G>A (p.Leu871=)
n.334G>A
c.2619G>A (p.Leu873=)
n.2777G>A
n.271G>A
c.*144G>A (n.*144G>A)
c.2439G>A (p.Leu813=)
c.2484G>A (p.Leu828=)
 gnomAD v4
5g.78039234A>CCA360332258AP3B1c.2471T>G (p.Leu824Arg)
n.418T>G
c.2511T>G (p.Ala837=)
c.1817T>G (p.Leu606Arg)
c.*2380T>G (n.*2380T>G)
c.2561T>G (p.Leu854Arg)
c.2612T>G (p.Leu871Arg)
n.333T>G
c.2618T>G (p.Leu873Arg)
n.2776T>G
n.270T>G
c.*143T>G (n.*143T>G)
c.2438T>G (p.Leu813Arg)
c.2483T>G (p.Leu828Arg)
5g.78039234A>GCA360332260AP3B1c.2471T>C (p.Leu824Pro)
n.418T>C
c.2511T>C (p.Ala837=)
c.1817T>C (p.Leu606Pro)
c.*2380T>C (n.*2380T>C)
c.2561T>C (p.Leu854Pro)
c.2612T>C (p.Leu871Pro)
n.333T>C
c.2618T>C (p.Leu873Pro)
n.2776T>C
n.270T>C
c.*143T>C (n.*143T>C)
c.2438T>C (p.Leu813Pro)
c.2483T>C (p.Leu828Pro)
5g.78039234A>TCA360332259AP3B1c.2471T>A (p.Leu824Gln)
n.418T>A
c.2511T>A (p.Ala837=)
c.1817T>A (p.Leu606Gln)
c.*2380T>A (n.*2380T>A)
c.2561T>A (p.Leu854Gln)
c.2612T>A (p.Leu871Gln)
n.333T>A
c.2618T>A (p.Leu873Gln)
n.2776T>A
n.270T>A
c.*143T>A (n.*143T>A)
c.2438T>A (p.Leu813Gln)
c.2483T>A (p.Leu828Gln)
5g.78039235G>ACA445400050AP3B1c.2470C>T (p.Leu824=)
n.417C>T
c.2510C>T (p.Ala837Val)
c.1816C>T (p.Leu606=)
c.*2379C>T (n.*2379C>T)
c.2560C>T (p.Leu854=)
c.2611C>T (p.Leu871=)
n.332C>T
c.2617C>T (p.Leu873=)
n.2775C>T
n.269C>T
c.*142C>T (n.*142C>T)
c.2437C>T (p.Leu813=)
c.2482C>T (p.Leu828=)
5g.78039235G>CCA360332261AP3B1c.2470C>G (p.Leu824Val)
n.417C>G
c.2510C>G (p.Ala837Gly)
c.1816C>G (p.Leu606Val)
c.*2379C>G (n.*2379C>G)
c.2560C>G (p.Leu854Val)
c.2611C>G (p.Leu871Val)
n.332C>G
c.2617C>G (p.Leu873Val)
n.2775C>G
n.269C>G
c.*142C>G (n.*142C>G)
c.2437C>G (p.Leu813Val)
c.2482C>G (p.Leu828Val)
 gnomAD v4
5g.78039235G>TCA360332262AP3B1c.2470C>A (p.Leu824Met)
n.417C>A
c.2510C>A (p.Ala837Asp)
c.1816C>A (p.Leu606Met)
c.*2379C>A (n.*2379C>A)
c.2560C>A (p.Leu854Met)
c.2611C>A (p.Leu871Met)
n.332C>A
c.2617C>A (p.Leu873Met)
n.2775C>A
n.269C>A
c.*142C>A (n.*142C>A)
c.2437C>A (p.Leu813Met)
c.2482C>A (p.Leu828Met)
5g.78039236C>ACA445400051AP3B1c.2469G>T (p.Val823=)
n.416G>T
c.2509G>T (p.Ala837Ser)
c.1815G>T (p.Val605=)
c.*2378G>T (n.*2378G>T)
c.2559G>T (p.Val853=)
c.2610G>T (p.Val870=)
n.331G>T
c.2616G>T (p.Val872=)
n.2774G>T
n.268G>T
c.*141G>T (n.*141G>T)
c.2436G>T (p.Val812=)
c.2481G>T (p.Val827=)
5g.78039236C>GCA445400053AP3B1c.2469G>C (p.Val823=)
n.416G>C
c.2509G>C (p.Ala837Pro)
c.1815G>C (p.Val605=)
c.*2378G>C (n.*2378G>C)
c.2559G>C (p.Val853=)
c.2610G>C (p.Val870=)
n.331G>C
c.2616G>C (p.Val872=)
n.2774G>C
n.268G>C
c.*141G>C (n.*141G>C)
c.2436G>C (p.Val812=)
c.2481G>C (p.Val827=)
5g.78039236C>TCA445400055AP3B1c.2469G>A (p.Val823=)
n.416G>A
c.2509G>A (p.Ala837Thr)
c.1815G>A (p.Val605=)
c.*2378G>A (n.*2378G>A)
c.2559G>A (p.Val853=)
c.2610G>A (p.Val870=)
n.331G>A
c.2616G>A (p.Val872=)
n.2774G>A
n.268G>A
c.*141G>A (n.*141G>A)
c.2436G>A (p.Val812=)
c.2481G>A (p.Val827=)
5g.78039237A>CCA360332263AP3B1c.2468T>G (p.Val823Gly)
n.415T>G
c.2508T>G (p.Arg836=)
c.1814T>G (p.Val605Gly)
c.*2377T>G (n.*2377T>G)
c.2558T>G (p.Val853Gly)
c.2609T>G (p.Val870Gly)
n.330T>G
c.2615T>G (p.Val872Gly)
n.2773T>G
n.267T>G
c.*140T>G (n.*140T>G)
c.2435T>G (p.Val812Gly)
c.2480T>G (p.Val827Gly)
5g.78039237A>GCA360332264AP3B1c.2468T>C (p.Val823Ala)
n.415T>C
c.2508T>C (p.Arg836=)
c.1814T>C (p.Val605Ala)
c.*2377T>C (n.*2377T>C)
c.2558T>C (p.Val853Ala)
c.2609T>C (p.Val870Ala)
n.330T>C
c.2615T>C (p.Val872Ala)
n.2773T>C
n.267T>C
c.*140T>C (n.*140T>C)
c.2435T>C (p.Val812Ala)
c.2480T>C (p.Val827Ala)
5g.78039237A>TCA360332265AP3B1c.2468T>A (p.Val823Glu)
n.415T>A
c.2508T>A (p.Arg836=)
c.1814T>A (p.Val605Glu)
c.*2377T>A (n.*2377T>A)
c.2558T>A (p.Val853Glu)
c.2609T>A (p.Val870Glu)
n.330T>A
c.2615T>A (p.Val872Glu)
n.2773T>A
n.267T>A
c.*140T>A (n.*140T>A)
c.2435T>A (p.Val812Glu)
c.2480T>A (p.Val827Glu)
5g.78039238C>ACA360332267AP3B1c.2467G>T (p.Val823Leu)
n.414G>T
c.2507G>T (p.Arg836Leu)
c.1813G>T (p.Val605Leu)
c.*2376G>T (n.*2376G>T)
c.2557G>T (p.Val853Leu)
c.2608G>T (p.Val870Leu)
n.329G>T
c.2614G>T (p.Val872Leu)
n.2772G>T
n.266G>T
c.*139G>T (n.*139G>T)
c.2434G>T (p.Val812Leu)
c.2479G>T (p.Val827Leu)
 gnomAD v4
5g.78039238C=CA1557269354AP3B1c.2467G= (p.Val823=)
n.414G=
c.2507G= (p.Arg836=)
c.1813G= (p.Val605=)
c.*2376G= (n.*2376G=)
c.2557G= (p.Val853=)
c.2608G= (p.Val870=)
n.329G=
c.2614G= (p.Val872=)
n.2772G=
n.266G=
c.*139G= (n.*139G=)
c.2434G= (p.Val812=)
c.2479G= (p.Val827=)
5g.78039238C>GCA360332266AP3B1c.2467G>C (p.Val823Leu)
n.414G>C
c.2507G>C (p.Arg836Pro)
c.1813G>C (p.Val605Leu)
c.*2376G>C (n.*2376G>C)
c.2557G>C (p.Val853Leu)
c.2608G>C (p.Val870Leu)
n.329G>C
c.2614G>C (p.Val872Leu)
n.2772G>C
n.266G>C
c.*139G>C (n.*139G>C)
c.2434G>C (p.Val812Leu)
c.2479G>C (p.Val827Leu)
5g.78039238C>TCA3316710AP3B1c.2467G>A (p.Val823Met)
n.414G>A
c.2507G>A (p.Arg836His)
c.1813G>A (p.Val605Met)
c.*2376G>A (n.*2376G>A)
c.2557G>A (p.Val853Met)
c.2608G>A (p.Val870Met)
n.329G>A
c.2614G>A (p.Val872Met)
n.2772G>A
n.266G>A
c.*139G>A (n.*139G>A)
c.2434G>A (p.Val812Met)
c.2479G>A (p.Val827Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.78039239G>ACA207924AP3B1c.2466C>T (p.His822=)
n.413C>T
c.2506C>T (p.Arg836Cys)
c.1812C>T (p.His604=)
c.*2375C>T (n.*2375C>T)
c.2556C>T (p.His852=)
c.2607C>T (p.His869=)
n.328C>T
c.2613C>T (p.His871=)
n.2771C>T
n.265C>T
c.*138C>T (n.*138C>T)
c.2433C>T (p.His811=)
c.2478C>T (p.His826=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.78039239G>CCA360332268AP3B1c.2466C>G (p.His822Gln)
n.413C>G
c.2506C>G (p.Arg836Gly)
c.1812C>G (p.His604Gln)
c.*2375C>G (n.*2375C>G)
c.2556C>G (p.His852Gln)
c.2607C>G (p.His869Gln)
n.328C>G
c.2613C>G (p.His871Gln)
n.2771C>G
n.265C>G
c.*138C>G (n.*138C>G)
c.2433C>G (p.His811Gln)
c.2478C>G (p.His826Gln)
5g.78039239G=CA1557269358AP3B1c.2466C= (p.His822=)
n.413C=
c.2506C= (p.Arg836=)
c.1812C= (p.His604=)
c.*2375C= (n.*2375C=)
c.2556C= (p.His852=)
c.2607C= (p.His869=)
n.328C=
c.2613C= (p.His871=)
n.2771C=
n.265C=
c.*138C= (n.*138C=)
c.2433C= (p.His811=)
c.2478C= (p.His826=)
5g.78039239G>TCA121597001AP3B1c.2466C>A (p.His822Gln)
n.413C>A
c.2506C>A (p.Arg836Ser)
c.1812C>A (p.His604Gln)
c.*2375C>A (n.*2375C>A)
c.2556C>A (p.His852Gln)
c.2607C>A (p.His869Gln)
n.328C>A
c.2613C>A (p.His871Gln)
n.2771C>A
n.265C>A
c.*138C>A (n.*138C>A)
c.2433C>A (p.His811Gln)
c.2478C>A (p.His826Gln)
 dbSNP gnomAD v2 gnomAD v4
5g.78039240T>ACA360332269AP3B1c.2465A>T (p.His822Leu)
n.412A>T
c.2505A>T (p.Ser835=)
c.1811A>T (p.His604Leu)
c.*2374A>T (n.*2374A>T)
c.2555A>T (p.His852Leu)
c.2606A>T (p.His869Leu)
n.327A>T
c.2612A>T (p.His871Leu)
n.2770A>T
n.264A>T
c.*137A>T (n.*137A>T)
c.2432A>T (p.His811Leu)
c.2477A>T (p.His826Leu)
5g.78039240T>CCA360332270AP3B1c.2465A>G (p.His822Arg)
n.412A>G
c.2505A>G (p.Ser835=)
c.1811A>G (p.His604Arg)
c.*2374A>G (n.*2374A>G)
c.2555A>G (p.His852Arg)
c.2606A>G (p.His869Arg)
n.327A>G
c.2612A>G (p.His871Arg)
n.2770A>G
n.264A>G
c.*137A>G (n.*137A>G)
c.2432A>G (p.His811Arg)
c.2477A>G (p.His826Arg)
5g.78039240T>GCA360332271AP3B1c.2465A>C (p.His822Pro)
n.412A>C
c.2505A>C (p.Ser835=)
c.1811A>C (p.His604Pro)
c.*2374A>C (n.*2374A>C)
c.2555A>C (p.His852Pro)
c.2606A>C (p.His869Pro)
n.327A>C
c.2612A>C (p.His871Pro)
n.2770A>C
n.264A>C
c.*137A>C (n.*137A>C)
c.2432A>C (p.His811Pro)
c.2477A>C (p.His826Pro)
 gnomAD v4
5g.78039240dupCA2578344255AP3B1c.2465dup (p.His822GlnfsTer27)
n.412dup
c.2505dup (p.Arg836ThrfsTer7)
c.1811dup (p.His604GlnfsTer27)
c.*2374dup (n.*2374dup)
c.2555dup (p.His852GlnfsTer27)
c.2606dup (p.His869GlnfsTer27)
n.327dup
c.2612dup (p.His871GlnfsTer27)
n.2770dup
n.264dup
c.*137dup (n.*137dup)
c.2432dup (p.His811GlnfsTer27)
c.2477dup (p.His826GlnfsTer27)
5g.78039241G>ACA360332272AP3B1c.2464C>T (p.His822Tyr)
n.411C>T
c.2504C>T (p.Ser835Leu)
c.1810C>T (p.His604Tyr)
c.*2373C>T (n.*2373C>T)
c.2554C>T (p.His852Tyr)
c.2605C>T (p.His869Tyr)
n.326C>T
c.2611C>T (p.His871Tyr)
n.2769C>T
n.263C>T
c.*136C>T (n.*136C>T)
c.2431C>T (p.His811Tyr)
c.2476C>T (p.His826Tyr)
5g.78039241G>CCA3316711AP3B1c.2464C>G (p.His822Asp)
n.411C>G
c.2504C>G (p.Ser835Ter)
c.1810C>G (p.His604Asp)
c.*2373C>G (n.*2373C>G)
c.2554C>G (p.His852Asp)
c.2605C>G (p.His869Asp)
n.326C>G
c.2611C>G (p.His871Asp)
n.2769C>G
n.263C>G
c.*136C>G (n.*136C>G)
c.2431C>G (p.His811Asp)
c.2476C>G (p.His826Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.78039241G=CA1557269362AP3B1c.2464C= (p.His822=)
n.411C=
c.2504C= (p.Ser835=)
c.1810C= (p.His604=)
c.*2373C= (n.*2373C=)
c.2554C= (p.His852=)
c.2605C= (p.His869=)
n.326C=
c.2611C= (p.His871=)
n.2769C=
n.263C=
c.*136C= (n.*136C=)
c.2431C= (p.His811=)
c.2476C= (p.His826=)
5g.78039241G>TCA360332273AP3B1c.2464C>A (p.His822Asn)
n.411C>A
c.2504C>A (p.Ser835Ter)
c.1810C>A (p.His604Asn)
c.*2373C>A (n.*2373C>A)
c.2554C>A (p.His852Asn)
c.2605C>A (p.His869Asn)
n.326C>A
c.2611C>A (p.His871Asn)
n.2769C>A
n.263C>A
c.*136C>A (n.*136C>A)
c.2431C>A (p.His811Asn)
c.2476C>A (p.His826Asn)
5g.78039242A>CCA445400069AP3B1c.2463T>G (p.Thr821=)
n.410T>G
c.2503T>G (p.Ser835Ala)
c.1809T>G (p.Thr603=)
c.*2372T>G (n.*2372T>G)
c.2553T>G (p.Thr851=)
c.2604T>G (p.Thr868=)
n.325T>G
c.2610T>G (p.Thr870=)
n.2768T>G
n.262T>G
c.*135T>G (n.*135T>G)
c.2430T>G (p.Thr810=)
c.2475T>G (p.Thr825=)
5g.78039242A>GCA445400070AP3B1c.2463T>C (p.Thr821=)
n.410T>C
c.2503T>C (p.Ser835Pro)
c.1809T>C (p.Thr603=)
c.*2372T>C (n.*2372T>C)
c.2553T>C (p.Thr851=)
c.2604T>C (p.Thr868=)
n.325T>C
c.2610T>C (p.Thr870=)
n.2768T>C
n.262T>C
c.*135T>C (n.*135T>C)
c.2430T>C (p.Thr810=)
c.2475T>C (p.Thr825=)
5g.78039242A>TCA445400072AP3B1c.2463T>A (p.Thr821=)
n.410T>A
c.2503T>A (p.Ser835Thr)
c.1809T>A (p.Thr603=)
c.*2372T>A (n.*2372T>A)
c.2553T>A (p.Thr851=)
c.2604T>A (p.Thr868=)
n.325T>A
c.2610T>A (p.Thr870=)
n.2768T>A
n.262T>A
c.*135T>A (n.*135T>A)
c.2430T>A (p.Thr810=)
c.2475T>A (p.Thr825=)
5g.78039243G>ACA360332274AP3B1c.2462C>T (p.Thr821Ile)
n.409C>T
c.2502C>T (p.Asn834=)
c.1808C>T (p.Thr603Ile)
c.*2371C>T (n.*2371C>T)
c.2552C>T (p.Thr851Ile)
c.2603C>T (p.Thr868Ile)
n.324C>T
c.2609C>T (p.Thr870Ile)
n.2767C>T
n.261C>T
c.*134C>T (n.*134C>T)
c.2429C>T (p.Thr810Ile)
c.2474C>T (p.Thr825Ile)
 COSMIC
5g.78039243G>CCA360332275AP3B1c.2462C>G (p.Thr821Ser)
n.409C>G
c.2502C>G (p.Asn834Lys)
c.1808C>G (p.Thr603Ser)
c.*2371C>G (n.*2371C>G)
c.2552C>G (p.Thr851Ser)
c.2603C>G (p.Thr868Ser)
n.324C>G
c.2609C>G (p.Thr870Ser)
n.2767C>G
n.261C>G
c.*134C>G (n.*134C>G)
c.2429C>G (p.Thr810Ser)
c.2474C>G (p.Thr825Ser)
5g.78039243G>TCA360332276AP3B1c.2462C>A (p.Thr821Asn)
n.409C>A
c.2502C>A (p.Asn834Lys)
c.1808C>A (p.Thr603Asn)
c.*2371C>A (n.*2371C>A)
c.2552C>A (p.Thr851Asn)
c.2603C>A (p.Thr868Asn)
n.324C>A
c.2609C>A (p.Thr870Asn)
n.2767C>A
n.261C>A
c.*134C>A (n.*134C>A)
c.2429C>A (p.Thr810Asn)
c.2474C>A (p.Thr825Asn)
5g.78039244T>ACA360332277AP3B1c.2461A>T (p.Thr821Ser)
n.408A>T
c.2501A>T (p.Asn834Ile)
c.1807A>T (p.Thr603Ser)
c.*2370A>T (n.*2370A>T)
c.2551A>T (p.Thr851Ser)
c.2602A>T (p.Thr868Ser)
n.323A>T
c.2608A>T (p.Thr870Ser)
n.2766A>T
n.260A>T
c.*133A>T (n.*133A>T)
c.2428A>T (p.Thr810Ser)
c.2473A>T (p.Thr825Ser)
5g.78039244T>CCA360332278AP3B1c.2461A>G (p.Thr821Ala)
n.408A>G
c.2501A>G (p.Asn834Ser)
c.1807A>G (p.Thr603Ala)
c.*2370A>G (n.*2370A>G)
c.2551A>G (p.Thr851Ala)
c.2602A>G (p.Thr868Ala)
n.323A>G
c.2608A>G (p.Thr870Ala)
n.2766A>G
n.260A>G
c.*133A>G (n.*133A>G)
c.2428A>G (p.Thr810Ala)
c.2473A>G (p.Thr825Ala)
 gnomAD v4
5g.78039244T>GCA360332279AP3B1c.2461A>C (p.Thr821Pro)
n.408A>C
c.2501A>C (p.Asn834Thr)
c.1807A>C (p.Thr603Pro)
c.*2370A>C (n.*2370A>C)
c.2551A>C (p.Thr851Pro)
c.2602A>C (p.Thr868Pro)
n.323A>C
c.2608A>C (p.Thr870Pro)
n.2766A>C
n.260A>C
c.*133A>C (n.*133A>C)
c.2428A>C (p.Thr810Pro)
c.2473A>C (p.Thr825Pro)
5g.78039245T>ACA360332280AP3B1c.2460A>T (p.Lys820Asn)
n.407A>T
c.2500A>T (p.Asn834Tyr)
c.1806A>T (p.Lys602Asn)
c.*2369A>T (n.*2369A>T)
c.2550A>T (p.Lys850Asn)
c.2601A>T (p.Lys867Asn)
n.322A>T
c.2607A>T (p.Lys869Asn)
n.2765A>T
n.259A>T
c.*132A>T (n.*132A>T)
c.2427A>T (p.Lys809Asn)
c.2472A>T (p.Lys824Asn)
5g.78039245T>CCA445400077AP3B1c.2460A>G (p.Lys820=)
n.407A>G
c.2500A>G (p.Asn834Asp)
c.1806A>G (p.Lys602=)
c.*2369A>G (n.*2369A>G)
c.2550A>G (p.Lys850=)
c.2601A>G (p.Lys867=)
n.322A>G
c.2607A>G (p.Lys869=)
n.2765A>G
n.259A>G
c.*132A>G (n.*132A>G)
c.2427A>G (p.Lys809=)
c.2472A>G (p.Lys824=)
 ClinVar dbSNP gnomAD v4
5g.78039245T>GCA360332281AP3B1c.2460A>C (p.Lys820Asn)
n.407A>C
c.2500A>C (p.Asn834His)
c.1806A>C (p.Lys602Asn)
c.*2369A>C (n.*2369A>C)
c.2550A>C (p.Lys850Asn)
c.2601A>C (p.Lys867Asn)
n.322A>C
c.2607A>C (p.Lys869Asn)
n.2765A>C
n.259A>C
c.*132A>C (n.*132A>C)
c.2427A>C (p.Lys809Asn)
c.2472A>C (p.Lys824Asn)
5g.78039245T=CA1557269366AP3B1c.2460A= (p.Lys820=)
n.407A=
c.2500A= (p.Asn834=)
c.1806A= (p.Lys602=)
c.*2369A= (n.*2369A=)
c.2550A= (p.Lys850=)
c.2601A= (p.Lys867=)
n.322A=
c.2607A= (p.Lys869=)
n.2765A=
n.259A=
c.*132A= (n.*132A=)
c.2427A= (p.Lys809=)
c.2472A= (p.Lys824=)
5g.78039246T>ACA360332282AP3B1c.2459A>T (p.Lys820Ile)
n.406A>T
c.2499A>T (p.Glu833Asp)
c.1805A>T (p.Lys602Ile)
c.*2368A>T (n.*2368A>T)
c.2549A>T (p.Lys850Ile)
c.2600A>T (p.Lys867Ile)
n.321A>T
c.2606A>T (p.Lys869Ile)
n.2764A>T
n.258A>T
c.*131A>T (n.*131A>T)
c.2426A>T (p.Lys809Ile)
c.2471A>T (p.Lys824Ile)
5g.78039246T>CCA360332283AP3B1c.2459A>G (p.Lys820Arg)
n.406A>G
c.2499A>G (p.Glu833=)
c.1805A>G (p.Lys602Arg)
c.*2368A>G (n.*2368A>G)
c.2549A>G (p.Lys850Arg)
c.2600A>G (p.Lys867Arg)
n.321A>G
c.2606A>G (p.Lys869Arg)
n.2764A>G
n.258A>G
c.*131A>G (n.*131A>G)
c.2426A>G (p.Lys809Arg)
c.2471A>G (p.Lys824Arg)
5g.78039246T>GCA360332284AP3B1c.2459A>C (p.Lys820Thr)
n.406A>C
c.2499A>C (p.Glu833Asp)
c.1805A>C (p.Lys602Thr)
c.*2368A>C (n.*2368A>C)
c.2549A>C (p.Lys850Thr)
c.2600A>C (p.Lys867Thr)
n.321A>C
c.2606A>C (p.Lys869Thr)
n.2764A>C
n.258A>C
c.*131A>C (n.*131A>C)
c.2426A>C (p.Lys809Thr)
c.2471A>C (p.Lys824Thr)
5g.78039247T>ACA360332285AP3B1c.2458A>T (p.Lys820Ter)
n.405A>T
c.2498A>T (p.Glu833Val)
c.1804A>T (p.Lys602Ter)
c.*2367A>T (n.*2367A>T)
c.2548A>T (p.Lys850Ter)
c.2599A>T (p.Lys867Ter)
n.320A>T
c.2605A>T (p.Lys869Ter)
n.2763A>T
n.257A>T
c.*130A>T (n.*130A>T)
c.2425A>T (p.Lys809Ter)
c.2470A>T (p.Lys824Ter)
5g.78039247T>CCA360332287AP3B1c.2458A>G (p.Lys820Glu)
n.405A>G
c.2498A>G (p.Glu833Gly)
c.1804A>G (p.Lys602Glu)
c.*2367A>G (n.*2367A>G)
c.2548A>G (p.Lys850Glu)
c.2599A>G (p.Lys867Glu)
n.320A>G
c.2605A>G (p.Lys869Glu)
n.2763A>G
n.257A>G
c.*130A>G (n.*130A>G)
c.2425A>G (p.Lys809Glu)
c.2470A>G (p.Lys824Glu)
 gnomAD v4
5g.78039247T>GCA360332286AP3B1c.2458A>C (p.Lys820Gln)
n.405A>C
c.2498A>C (p.Glu833Ala)
c.1804A>C (p.Lys602Gln)
c.*2367A>C (n.*2367A>C)
c.2548A>C (p.Lys850Gln)
c.2599A>C (p.Lys867Gln)
n.320A>C
c.2605A>C (p.Lys869Gln)
n.2763A>C
n.257A>C
c.*130A>C (n.*130A>C)
c.2425A>C (p.Lys809Gln)
c.2470A>C (p.Lys824Gln)
5g.78039248C>ACA445400083AP3B1c.2457G>T (p.Thr819=)
n.404G>T
c.2497G>T (p.Glu833Ter)
c.1803G>T (p.Thr601=)
c.*2366G>T (n.*2366G>T)
c.2547G>T (p.Thr849=)
c.2598G>T (p.Thr866=)
n.319G>T
c.2604G>T (p.Thr868=)
n.2762G>T
n.256G>T
c.*129G>T (n.*129G>T)
c.2424G>T (p.Thr808=)
c.2469G>T (p.Thr823=)
5g.78039248C=CA1557269368AP3B1c.2457G= (p.Thr819=)
n.404G=
c.2497G= (p.Glu833=)
c.1803G= (p.Thr601=)
c.*2366G= (n.*2366G=)
c.2547G= (p.Thr849=)
c.2598G= (p.Thr866=)
n.319G=
c.2604G= (p.Thr868=)
n.2762G=
n.256G=
c.*129G= (n.*129G=)
c.2424G= (p.Thr808=)
c.2469G= (p.Thr823=)
5g.78039248C>GCA445400082AP3B1c.2457G>C (p.Thr819=)
n.404G>C
c.2497G>C (p.Glu833Gln)
c.1803G>C (p.Thr601=)
c.*2366G>C (n.*2366G>C)
c.2547G>C (p.Thr849=)
c.2598G>C (p.Thr866=)
n.319G>C
c.2604G>C (p.Thr868=)
n.2762G>C
n.256G>C
c.*129G>C (n.*129G>C)
c.2424G>C (p.Thr808=)
c.2469G>C (p.Thr823=)
5g.78039248C>TCA445400081AP3B1c.2457G>A (p.Thr819=)
n.404G>A
c.2497G>A (p.Glu833Lys)
c.1803G>A (p.Thr601=)
c.*2366G>A (n.*2366G>A)
c.2547G>A (p.Thr849=)
c.2598G>A (p.Thr866=)
n.319G>A
c.2604G>A (p.Thr868=)
n.2762G>A
n.256G>A
c.*129G>A (n.*129G>A)
c.2424G>A (p.Thr808=)
c.2469G>A (p.Thr823=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
5g.78039249G>ACA360332288AP3B1c.2456C>T (p.Thr819Met)
n.403C>T
c.2496C>T (p.Asn832=)
c.1802C>T (p.Thr601Met)
c.*2365C>T (n.*2365C>T)
c.2546C>T (p.Thr849Met)
c.2597C>T (p.Thr866Met)
n.318C>T
c.2603C>T (p.Thr868Met)
n.2761C>T
n.255C>T
c.*128C>T (n.*128C>T)
c.2423C>T (p.Thr808Met)
c.2468C>T (p.Thr823Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.78039249G>CCA360332289AP3B1c.2456C>G (p.Thr819Arg)
n.403C>G
c.2496C>G (p.Asn832Lys)
c.1802C>G (p.Thr601Arg)
c.*2365C>G (n.*2365C>G)
c.2546C>G (p.Thr849Arg)
c.2597C>G (p.Thr866Arg)
n.318C>G
c.2603C>G (p.Thr868Arg)
n.2761C>G
n.255C>G
c.*128C>G (n.*128C>G)
c.2423C>G (p.Thr808Arg)
c.2468C>G (p.Thr823Arg)
5g.78039249G=CA1557269373AP3B1c.2456C= (p.Thr819=)
n.403C=
c.2496C= (p.Asn832=)
c.1802C= (p.Thr601=)
c.*2365C= (n.*2365C=)
c.2546C= (p.Thr849=)
c.2597C= (p.Thr866=)
n.318C=
c.2603C= (p.Thr868=)
n.2761C=
n.255C=
c.*128C= (n.*128C=)
c.2423C= (p.Thr808=)
c.2468C= (p.Thr823=)
5g.78039249G>TCA360332290AP3B1c.2456C>A (p.Thr819Lys)
n.403C>A
c.2496C>A (p.Asn832Lys)
c.1802C>A (p.Thr601Lys)
c.*2365C>A (n.*2365C>A)
c.2546C>A (p.Thr849Lys)
c.2597C>A (p.Thr866Lys)
n.318C>A
c.2603C>A (p.Thr868Lys)
n.2761C>A
n.255C>A
c.*128C>A (n.*128C>A)
c.2423C>A (p.Thr808Lys)
c.2468C>A (p.Thr823Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.78039250T>ACA360332291AP3B1c.2455A>T (p.Thr819Ser)
n.402A>T
c.2495A>T (p.Asn832Ile)
c.1801A>T (p.Thr601Ser)
c.*2364A>T (n.*2364A>T)
c.2545A>T (p.Thr849Ser)
c.2596A>T (p.Thr866Ser)
n.317A>T
c.2602A>T (p.Thr868Ser)
n.2760A>T
n.254A>T
c.*127A>T (n.*127A>T)
c.2422A>T (p.Thr808Ser)
c.2467A>T (p.Thr823Ser)
5g.78039250T>CCA360332292AP3B1c.2455A>G (p.Thr819Ala)
n.402A>G
c.2495A>G (p.Asn832Ser)
c.1801A>G (p.Thr601Ala)
c.*2364A>G (n.*2364A>G)
c.2545A>G (p.Thr849Ala)
c.2596A>G (p.Thr866Ala)
n.317A>G
c.2602A>G (p.Thr868Ala)
n.2760A>G
n.254A>G
c.*127A>G (n.*127A>G)
c.2422A>G (p.Thr808Ala)
c.2467A>G (p.Thr823Ala)
 dbSNP gnomAD v3 gnomAD v4
5g.78039250T>GCA360332293AP3B1c.2455A>C (p.Thr819Pro)
n.402A>C
c.2495A>C (p.Asn832Thr)
c.1801A>C (p.Thr601Pro)
c.*2364A>C (n.*2364A>C)
c.2545A>C (p.Thr849Pro)
c.2596A>C (p.Thr866Pro)
n.317A>C
c.2602A>C (p.Thr868Pro)
n.2760A>C
n.254A>C
c.*127A>C (n.*127A>C)
c.2422A>C (p.Thr808Pro)
c.2467A>C (p.Thr823Pro)
5g.78039250T=CA1557269377AP3B1c.2455A= (p.Thr819=)
n.402A=
c.2495A= (p.Asn832=)
c.1801A= (p.Thr601=)
c.*2364A= (n.*2364A=)
c.2545A= (p.Thr849=)
c.2596A= (p.Thr866=)
n.317A=
c.2602A= (p.Thr868=)
n.2760A=
n.254A=
c.*127A= (n.*127A=)
c.2422A= (p.Thr808=)
c.2467A= (p.Thr823=)

Number of alleles fetched