Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.112843645A>CCA16038810APCc.8105A>C (p.Asp2702Ala)
c.*8057A>C (n.*8057A>C)
c.7997A>C (p.Asp2666Ala)
c.8051A>C (p.Asp2684Ala)
c.231-13004A>C
c.8081A>C (p.Asp2694Ala)
c.7976A>C (p.Asp2659Ala)
c.7967A>C (p.Asp2656Ala)
c.7928A>C (p.Asp2643Ala)
c.7874A>C (p.Asp2625Ala)
c.7778A>C (p.Asp2593Ala)
c.7748A>C (p.Asp2583Ala)
c.7673A>C (p.Asp2558Ala)
c.7571A>C (p.Asp2524Ala)
c.7202A>C (p.Asp2401Ala)
5g.112843645A>GCA16038811APCc.8105A>G (p.Asp2702Gly)
c.*8057A>G (n.*8057A>G)
c.7997A>G (p.Asp2666Gly)
c.8051A>G (p.Asp2684Gly)
c.231-13004A>G
c.8081A>G (p.Asp2694Gly)
c.7976A>G (p.Asp2659Gly)
c.7967A>G (p.Asp2656Gly)
c.7928A>G (p.Asp2643Gly)
c.7874A>G (p.Asp2625Gly)
c.7778A>G (p.Asp2593Gly)
c.7748A>G (p.Asp2583Gly)
c.7673A>G (p.Asp2558Gly)
c.7571A>G (p.Asp2524Gly)
c.7202A>G (p.Asp2401Gly)
 ClinVar dbSNP
5g.112843645A>TCA16038812APCc.8105A>T (p.Asp2702Val)
c.*8057A>T (n.*8057A>T)
c.7997A>T (p.Asp2666Val)
c.8051A>T (p.Asp2684Val)
c.231-13004A>T
c.8081A>T (p.Asp2694Val)
c.7976A>T (p.Asp2659Val)
c.7967A>T (p.Asp2656Val)
c.7928A>T (p.Asp2643Val)
c.7874A>T (p.Asp2625Val)
c.7778A>T (p.Asp2593Val)
c.7748A>T (p.Asp2583Val)
c.7673A>T (p.Asp2558Val)
c.7571A>T (p.Asp2524Val)
c.7202A>T (p.Asp2401Val)
 dbSNP
5g.112843646C>ACA16038813APCc.8106C>A (p.Asp2702Glu)
c.*8058C>A (n.*8058C>A)
c.7998C>A (p.Asp2666Glu)
c.8052C>A (p.Asp2684Glu)
c.231-13003C>A
c.8082C>A (p.Asp2694Glu)
c.7977C>A (p.Asp2659Glu)
c.7968C>A (p.Asp2656Glu)
c.7929C>A (p.Asp2643Glu)
c.7875C>A (p.Asp2625Glu)
c.7779C>A (p.Asp2593Glu)
c.7749C>A (p.Asp2583Glu)
c.7674C>A (p.Asp2558Glu)
c.7572C>A (p.Asp2524Glu)
c.7203C>A (p.Asp2401Glu)
 dbSNP
5g.112843646C=CA1573475738APCc.8106C= (p.Asp2702=)
c.*8058C= (n.*8058C=)
c.7998C= (p.Asp2666=)
c.8052C= (p.Asp2684=)
c.231-13003C=
c.8082C= (p.Asp2694=)
c.7977C= (p.Asp2659=)
c.7968C= (p.Asp2656=)
c.7929C= (p.Asp2643=)
c.7875C= (p.Asp2625=)
c.7779C= (p.Asp2593=)
c.7749C= (p.Asp2583=)
c.7674C= (p.Asp2558=)
c.7572C= (p.Asp2524=)
c.7203C= (p.Asp2401=)
5g.112843646C>GCA16038814APCc.8106C>G (p.Asp2702Glu)
c.*8058C>G (n.*8058C>G)
c.7998C>G (p.Asp2666Glu)
c.8052C>G (p.Asp2684Glu)
c.231-13003C>G
c.8082C>G (p.Asp2694Glu)
c.7977C>G (p.Asp2659Glu)
c.7968C>G (p.Asp2656Glu)
c.7929C>G (p.Asp2643Glu)
c.7875C>G (p.Asp2625Glu)
c.7779C>G (p.Asp2593Glu)
c.7749C>G (p.Asp2583Glu)
c.7674C>G (p.Asp2558Glu)
c.7572C>G (p.Asp2524Glu)
c.7203C>G (p.Asp2401Glu)
 dbSNP
5g.112843646C>TCA446211043APCc.8106C>T (p.Asp2702=)
c.*8058C>T (n.*8058C>T)
c.7998C>T (p.Asp2666=)
c.8052C>T (p.Asp2684=)
c.231-13003C>T
c.8082C>T (p.Asp2694=)
c.7977C>T (p.Asp2659=)
c.7968C>T (p.Asp2656=)
c.7929C>T (p.Asp2643=)
c.7875C>T (p.Asp2625=)
c.7779C>T (p.Asp2593=)
c.7749C>T (p.Asp2583=)
c.7674C>T (p.Asp2558=)
c.7572C>T (p.Asp2524=)
c.7203C>T (p.Asp2401=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112843647A=CA1573475747APCc.8107A= (p.Ser2703=)
c.*8059A= (n.*8059A=)
c.7999A= (p.Ser2667=)
c.8053A= (p.Ser2685=)
c.231-13002A=
c.8083A= (p.Ser2695=)
c.7978A= (p.Ser2660=)
c.7969A= (p.Ser2657=)
c.7930A= (p.Ser2644=)
c.7876A= (p.Ser2626=)
c.7780A= (p.Ser2594=)
c.7750A= (p.Ser2584=)
c.7675A= (p.Ser2559=)
c.7573A= (p.Ser2525=)
c.7204A= (p.Ser2402=)
5g.112843647A>CCA16038815APCc.8107A>C (p.Ser2703Arg)
c.*8059A>C (n.*8059A>C)
c.7999A>C (p.Ser2667Arg)
c.8053A>C (p.Ser2685Arg)
c.231-13002A>C
c.8083A>C (p.Ser2695Arg)
c.7978A>C (p.Ser2660Arg)
c.7969A>C (p.Ser2657Arg)
c.7930A>C (p.Ser2644Arg)
c.7876A>C (p.Ser2626Arg)
c.7780A>C (p.Ser2594Arg)
c.7750A>C (p.Ser2584Arg)
c.7675A>C (p.Ser2559Arg)
c.7573A>C (p.Ser2525Arg)
c.7204A>C (p.Ser2402Arg)
5g.112843647A>GCA16038816APCc.8107A>G (p.Ser2703Gly)
c.*8059A>G (n.*8059A>G)
c.7999A>G (p.Ser2667Gly)
c.8053A>G (p.Ser2685Gly)
c.231-13002A>G
c.8083A>G (p.Ser2695Gly)
c.7978A>G (p.Ser2660Gly)
c.7969A>G (p.Ser2657Gly)
c.7930A>G (p.Ser2644Gly)
c.7876A>G (p.Ser2626Gly)
c.7780A>G (p.Ser2594Gly)
c.7750A>G (p.Ser2584Gly)
c.7675A>G (p.Ser2559Gly)
c.7573A>G (p.Ser2525Gly)
c.7204A>G (p.Ser2402Gly)
 ClinVar dbSNP
5g.112843647A>TCA16038817APCc.8107A>T (p.Ser2703Cys)
c.*8059A>T (n.*8059A>T)
c.7999A>T (p.Ser2667Cys)
c.8053A>T (p.Ser2685Cys)
c.231-13002A>T
c.8083A>T (p.Ser2695Cys)
c.7978A>T (p.Ser2660Cys)
c.7969A>T (p.Ser2657Cys)
c.7930A>T (p.Ser2644Cys)
c.7876A>T (p.Ser2626Cys)
c.7780A>T (p.Ser2594Cys)
c.7750A>T (p.Ser2584Cys)
c.7675A>T (p.Ser2559Cys)
c.7573A>T (p.Ser2525Cys)
c.7204A>T (p.Ser2402Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112843648G>ACA16038818APCc.8108G>A (p.Ser2703Asn)
c.*8060G>A (n.*8060G>A)
c.8000G>A (p.Ser2667Asn)
c.8054G>A (p.Ser2685Asn)
c.231-13001G>A
c.8084G>A (p.Ser2695Asn)
c.7979G>A (p.Ser2660Asn)
c.7970G>A (p.Ser2657Asn)
c.7931G>A (p.Ser2644Asn)
c.7877G>A (p.Ser2626Asn)
c.7781G>A (p.Ser2594Asn)
c.7751G>A (p.Ser2584Asn)
c.7676G>A (p.Ser2559Asn)
c.7574G>A (p.Ser2525Asn)
c.7205G>A (p.Ser2402Asn)
 dbSNP gnomAD v4
5g.112843648G>CCA16038819APCc.8108G>C (p.Ser2703Thr)
c.*8060G>C (n.*8060G>C)
c.8000G>C (p.Ser2667Thr)
c.8054G>C (p.Ser2685Thr)
c.231-13001G>C
c.8084G>C (p.Ser2695Thr)
c.7979G>C (p.Ser2660Thr)
c.7970G>C (p.Ser2657Thr)
c.7931G>C (p.Ser2644Thr)
c.7877G>C (p.Ser2626Thr)
c.7781G>C (p.Ser2594Thr)
c.7751G>C (p.Ser2584Thr)
c.7676G>C (p.Ser2559Thr)
c.7574G>C (p.Ser2525Thr)
c.7205G>C (p.Ser2402Thr)
 ClinVar dbSNP
5g.112843648G=CA1573475755APCc.8108G= (p.Ser2703=)
c.*8060G= (n.*8060G=)
c.8000G= (p.Ser2667=)
c.8054G= (p.Ser2685=)
c.231-13001G=
c.8084G= (p.Ser2695=)
c.7979G= (p.Ser2660=)
c.7970G= (p.Ser2657=)
c.7931G= (p.Ser2644=)
c.7877G= (p.Ser2626=)
c.7781G= (p.Ser2594=)
c.7751G= (p.Ser2584=)
c.7676G= (p.Ser2559=)
c.7574G= (p.Ser2525=)
c.7205G= (p.Ser2402=)
5g.112843648G>TCA16038820APCc.8108G>T (p.Ser2703Ile)
c.*8060G>T (n.*8060G>T)
c.8000G>T (p.Ser2667Ile)
c.8054G>T (p.Ser2685Ile)
c.231-13001G>T
c.8084G>T (p.Ser2695Ile)
c.7979G>T (p.Ser2660Ile)
c.7970G>T (p.Ser2657Ile)
c.7931G>T (p.Ser2644Ile)
c.7877G>T (p.Ser2626Ile)
c.7781G>T (p.Ser2594Ile)
c.7751G>T (p.Ser2584Ile)
c.7676G>T (p.Ser2559Ile)
c.7574G>T (p.Ser2525Ile)
c.7205G>T (p.Ser2402Ile)
 gnomAD v4
5g.112843649T>ACA16038821APCc.8109T>A (p.Ser2703Arg)
c.*8061T>A (n.*8061T>A)
c.8001T>A (p.Ser2667Arg)
c.8055T>A (p.Ser2685Arg)
c.231-13000T>A
c.8085T>A (p.Ser2695Arg)
c.7980T>A (p.Ser2660Arg)
c.7971T>A (p.Ser2657Arg)
c.7932T>A (p.Ser2644Arg)
c.7878T>A (p.Ser2626Arg)
c.7782T>A (p.Ser2594Arg)
c.7752T>A (p.Ser2584Arg)
c.7677T>A (p.Ser2559Arg)
c.7575T>A (p.Ser2525Arg)
c.7206T>A (p.Ser2402Arg)
 ClinVar dbSNP
5g.112843649T>CCA446211044APCc.8109T>C (p.Ser2703=)
c.*8061T>C (n.*8061T>C)
c.8001T>C (p.Ser2667=)
c.8055T>C (p.Ser2685=)
c.231-13000T>C
c.8085T>C (p.Ser2695=)
c.7980T>C (p.Ser2660=)
c.7971T>C (p.Ser2657=)
c.7932T>C (p.Ser2644=)
c.7878T>C (p.Ser2626=)
c.7782T>C (p.Ser2594=)
c.7752T>C (p.Ser2584=)
c.7677T>C (p.Ser2559=)
c.7575T>C (p.Ser2525=)
c.7206T>C (p.Ser2402=)
 ClinVar dbSNP
5g.112843649T>GCA16038822APCc.8109T>G (p.Ser2703Arg)
c.*8061T>G (n.*8061T>G)
c.8001T>G (p.Ser2667Arg)
c.8055T>G (p.Ser2685Arg)
c.231-13000T>G
c.8085T>G (p.Ser2695Arg)
c.7980T>G (p.Ser2660Arg)
c.7971T>G (p.Ser2657Arg)
c.7932T>G (p.Ser2644Arg)
c.7878T>G (p.Ser2626Arg)
c.7782T>G (p.Ser2594Arg)
c.7752T>G (p.Ser2584Arg)
c.7677T>G (p.Ser2559Arg)
c.7575T>G (p.Ser2525Arg)
c.7206T>G (p.Ser2402Arg)
5g.112843650G>ACA16038823APCc.8110G>A (p.Val2704Ile)
c.*8062G>A (n.*8062G>A)
c.8002G>A (p.Val2668Ile)
c.8056G>A (p.Val2686Ile)
c.231-12999G>A
c.8086G>A (p.Val2696Ile)
c.7981G>A (p.Val2661Ile)
c.7972G>A (p.Val2658Ile)
c.7933G>A (p.Val2645Ile)
c.7879G>A (p.Val2627Ile)
c.7783G>A (p.Val2595Ile)
c.7753G>A (p.Val2585Ile)
c.7678G>A (p.Val2560Ile)
c.7576G>A (p.Val2526Ile)
c.7207G>A (p.Val2403Ile)
 ClinVar dbSNP
5g.112843650G>CCA16038824APCc.8110G>C (p.Val2704Leu)
c.*8062G>C (n.*8062G>C)
c.8002G>C (p.Val2668Leu)
c.8056G>C (p.Val2686Leu)
c.231-12999G>C
c.8086G>C (p.Val2696Leu)
c.7981G>C (p.Val2661Leu)
c.7972G>C (p.Val2658Leu)
c.7933G>C (p.Val2645Leu)
c.7879G>C (p.Val2627Leu)
c.7783G>C (p.Val2595Leu)
c.7753G>C (p.Val2585Leu)
c.7678G>C (p.Val2560Leu)
c.7576G>C (p.Val2526Leu)
c.7207G>C (p.Val2403Leu)
5g.112843650G>TCA16038825APCc.8110G>T (p.Val2704Phe)
c.*8062G>T (n.*8062G>T)
c.8002G>T (p.Val2668Phe)
c.8056G>T (p.Val2686Phe)
c.231-12999G>T
c.8086G>T (p.Val2696Phe)
c.7981G>T (p.Val2661Phe)
c.7972G>T (p.Val2658Phe)
c.7933G>T (p.Val2645Phe)
c.7879G>T (p.Val2627Phe)
c.7783G>T (p.Val2595Phe)
c.7753G>T (p.Val2585Phe)
c.7678G>T (p.Val2560Phe)
c.7576G>T (p.Val2526Phe)
c.7207G>T (p.Val2403Phe)
5g.112843651T>ACA16038826APCc.8111T>A (p.Val2704Asp)
c.*8063T>A (n.*8063T>A)
c.8003T>A (p.Val2668Asp)
c.8057T>A (p.Val2686Asp)
c.231-12998T>A
c.8087T>A (p.Val2696Asp)
c.7982T>A (p.Val2661Asp)
c.7973T>A (p.Val2658Asp)
c.7934T>A (p.Val2645Asp)
c.7880T>A (p.Val2627Asp)
c.7784T>A (p.Val2595Asp)
c.7754T>A (p.Val2585Asp)
c.7679T>A (p.Val2560Asp)
c.7577T>A (p.Val2526Asp)
c.7208T>A (p.Val2403Asp)
 dbSNP
5g.112843651T>CCA049793APCc.8111T>C (p.Val2704Ala)
c.*8063T>C (n.*8063T>C)
c.8003T>C (p.Val2668Ala)
c.8057T>C (p.Val2686Ala)
c.231-12998T>C
c.8087T>C (p.Val2696Ala)
c.7982T>C (p.Val2661Ala)
c.7973T>C (p.Val2658Ala)
c.7934T>C (p.Val2645Ala)
c.7880T>C (p.Val2627Ala)
c.7784T>C (p.Val2595Ala)
c.7754T>C (p.Val2585Ala)
c.7679T>C (p.Val2560Ala)
c.7577T>C (p.Val2526Ala)
c.7208T>C (p.Val2403Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843651T>GCA16038827APCc.8111T>G (p.Val2704Gly)
c.*8063T>G (n.*8063T>G)
c.8003T>G (p.Val2668Gly)
c.8057T>G (p.Val2686Gly)
c.231-12998T>G
c.8087T>G (p.Val2696Gly)
c.7982T>G (p.Val2661Gly)
c.7973T>G (p.Val2658Gly)
c.7934T>G (p.Val2645Gly)
c.7880T>G (p.Val2627Gly)
c.7784T>G (p.Val2595Gly)
c.7754T>G (p.Val2585Gly)
c.7679T>G (p.Val2560Gly)
c.7577T>G (p.Val2526Gly)
c.7208T>G (p.Val2403Gly)
5g.112843651T=CA1573475765APCc.8111T= (p.Val2704=)
c.*8063T= (n.*8063T=)
c.8003T= (p.Val2668=)
c.8057T= (p.Val2686=)
c.231-12998T=
c.8087T= (p.Val2696=)
c.7982T= (p.Val2661=)
c.7973T= (p.Val2658=)
c.7934T= (p.Val2645=)
c.7880T= (p.Val2627=)
c.7784T= (p.Val2595=)
c.7754T= (p.Val2585=)
c.7679T= (p.Val2560=)
c.7577T= (p.Val2526=)
c.7208T= (p.Val2403=)
5g.112843652T>ACA446211045APCc.8112T>A (p.Val2704=)
c.*8064T>A (n.*8064T>A)
c.8004T>A (p.Val2668=)
c.8058T>A (p.Val2686=)
c.231-12997T>A
c.8088T>A (p.Val2696=)
c.7983T>A (p.Val2661=)
c.7974T>A (p.Val2658=)
c.7935T>A (p.Val2645=)
c.7881T>A (p.Val2627=)
c.7785T>A (p.Val2595=)
c.7755T>A (p.Val2585=)
c.7680T>A (p.Val2560=)
c.7578T>A (p.Val2526=)
c.7209T>A (p.Val2403=)
 dbSNP
5g.112843652T>CCA446211047APCc.8112T>C (p.Val2704=)
c.*8064T>C (n.*8064T>C)
c.8004T>C (p.Val2668=)
c.8058T>C (p.Val2686=)
c.231-12997T>C
c.8088T>C (p.Val2696=)
c.7983T>C (p.Val2661=)
c.7974T>C (p.Val2658=)
c.7935T>C (p.Val2645=)
c.7881T>C (p.Val2627=)
c.7785T>C (p.Val2595=)
c.7755T>C (p.Val2585=)
c.7680T>C (p.Val2560=)
c.7578T>C (p.Val2526=)
c.7209T>C (p.Val2403=)
 ClinVar dbSNP
5g.112843652T>GCA446211046APCc.8112T>G (p.Val2704=)
c.*8064T>G (n.*8064T>G)
c.8004T>G (p.Val2668=)
c.8058T>G (p.Val2686=)
c.231-12997T>G
c.8088T>G (p.Val2696=)
c.7983T>G (p.Val2661=)
c.7974T>G (p.Val2658=)
c.7935T>G (p.Val2645=)
c.7881T>G (p.Val2627=)
c.7785T>G (p.Val2595=)
c.7755T>G (p.Val2585=)
c.7680T>G (p.Val2560=)
c.7578T>G (p.Val2526=)
c.7209T>G (p.Val2403=)
5g.112843653T>ACA16038828APCc.8113T>A (p.Ser2705Thr)
c.*8065T>A (n.*8065T>A)
c.8005T>A (p.Ser2669Thr)
c.8059T>A (p.Ser2687Thr)
c.231-12996T>A
c.8089T>A (p.Ser2697Thr)
c.7984T>A (p.Ser2662Thr)
c.7975T>A (p.Ser2659Thr)
c.7936T>A (p.Ser2646Thr)
c.7882T>A (p.Ser2628Thr)
c.7786T>A (p.Ser2596Thr)
c.7756T>A (p.Ser2586Thr)
c.7681T>A (p.Ser2561Thr)
c.7579T>A (p.Ser2527Thr)
c.7210T>A (p.Ser2404Thr)
 dbSNP
5g.112843653T>CCA16038829APCc.8113T>C (p.Ser2705Pro)
c.*8065T>C (n.*8065T>C)
c.8005T>C (p.Ser2669Pro)
c.8059T>C (p.Ser2687Pro)
c.231-12996T>C
c.8089T>C (p.Ser2697Pro)
c.7984T>C (p.Ser2662Pro)
c.7975T>C (p.Ser2659Pro)
c.7936T>C (p.Ser2646Pro)
c.7882T>C (p.Ser2628Pro)
c.7786T>C (p.Ser2596Pro)
c.7756T>C (p.Ser2586Pro)
c.7681T>C (p.Ser2561Pro)
c.7579T>C (p.Ser2527Pro)
c.7210T>C (p.Ser2404Pro)
5g.112843653T>GCA16038830APCc.8113T>G (p.Ser2705Ala)
c.*8065T>G (n.*8065T>G)
c.8005T>G (p.Ser2669Ala)
c.8059T>G (p.Ser2687Ala)
c.231-12996T>G
c.8089T>G (p.Ser2697Ala)
c.7984T>G (p.Ser2662Ala)
c.7975T>G (p.Ser2659Ala)
c.7936T>G (p.Ser2646Ala)
c.7882T>G (p.Ser2628Ala)
c.7786T>G (p.Ser2596Ala)
c.7756T>G (p.Ser2586Ala)
c.7681T>G (p.Ser2561Ala)
c.7579T>G (p.Ser2527Ala)
c.7210T>G (p.Ser2404Ala)
5g.112843654C>ACA16038831APCc.8114C>A (p.Ser2705Ter)
c.*8066C>A (n.*8066C>A)
c.8006C>A (p.Ser2669Ter)
c.8060C>A (p.Ser2687Ter)
c.231-12995C>A
c.8090C>A (p.Ser2697Ter)
c.7985C>A (p.Ser2662Ter)
c.7976C>A (p.Ser2659Ter)
c.7937C>A (p.Ser2646Ter)
c.7883C>A (p.Ser2628Ter)
c.7787C>A (p.Ser2596Ter)
c.7757C>A (p.Ser2586Ter)
c.7682C>A (p.Ser2561Ter)
c.7580C>A (p.Ser2527Ter)
c.7211C>A (p.Ser2404Ter)
 dbSNP
5g.112843654C=CA1573475769APCc.8114C= (p.Ser2705=)
c.*8066C= (n.*8066C=)
c.8006C= (p.Ser2669=)
c.8060C= (p.Ser2687=)
c.231-12995C=
c.8090C= (p.Ser2697=)
c.7985C= (p.Ser2662=)
c.7976C= (p.Ser2659=)
c.7937C= (p.Ser2646=)
c.7883C= (p.Ser2628=)
c.7787C= (p.Ser2596=)
c.7757C= (p.Ser2586=)
c.7682C= (p.Ser2561=)
c.7580C= (p.Ser2527=)
c.7211C= (p.Ser2404=)
5g.112843654C>GCA16038832APCc.8114C>G (p.Ser2705Ter)
c.*8066C>G (n.*8066C>G)
c.8006C>G (p.Ser2669Ter)
c.8060C>G (p.Ser2687Ter)
c.231-12995C>G
c.8090C>G (p.Ser2697Ter)
c.7985C>G (p.Ser2662Ter)
c.7976C>G (p.Ser2659Ter)
c.7937C>G (p.Ser2646Ter)
c.7883C>G (p.Ser2628Ter)
c.7787C>G (p.Ser2596Ter)
c.7757C>G (p.Ser2586Ter)
c.7682C>G (p.Ser2561Ter)
c.7580C>G (p.Ser2527Ter)
c.7211C>G (p.Ser2404Ter)
 dbSNP
5g.112843654C>TCA049806APCc.8114C>T (p.Ser2705Leu)
c.*8066C>T (n.*8066C>T)
c.8006C>T (p.Ser2669Leu)
c.8060C>T (p.Ser2687Leu)
c.231-12995C>T
c.8090C>T (p.Ser2697Leu)
c.7985C>T (p.Ser2662Leu)
c.7976C>T (p.Ser2659Leu)
c.7937C>T (p.Ser2646Leu)
c.7883C>T (p.Ser2628Leu)
c.7787C>T (p.Ser2596Leu)
c.7757C>T (p.Ser2586Leu)
c.7682C>T (p.Ser2561Leu)
c.7580C>T (p.Ser2527Leu)
c.7211C>T (p.Ser2404Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843655A=CA1573475781APCc.8115A= (p.Ser2705=)
c.*8067A= (n.*8067A=)
c.8007A= (p.Ser2669=)
c.8061A= (p.Ser2687=)
c.231-12994A=
c.8091A= (p.Ser2697=)
c.7986A= (p.Ser2662=)
c.7977A= (p.Ser2659=)
c.7938A= (p.Ser2646=)
c.7884A= (p.Ser2628=)
c.7788A= (p.Ser2596=)
c.7758A= (p.Ser2586=)
c.7683A= (p.Ser2561=)
c.7581A= (p.Ser2527=)
c.7212A= (p.Ser2404=)
5g.112843655A>CCA446211048APCc.8115A>C (p.Ser2705=)
c.*8067A>C (n.*8067A>C)
c.8007A>C (p.Ser2669=)
c.8061A>C (p.Ser2687=)
c.231-12994A>C
c.8091A>C (p.Ser2697=)
c.7986A>C (p.Ser2662=)
c.7977A>C (p.Ser2659=)
c.7938A>C (p.Ser2646=)
c.7884A>C (p.Ser2628=)
c.7788A>C (p.Ser2596=)
c.7758A>C (p.Ser2586=)
c.7683A>C (p.Ser2561=)
c.7581A>C (p.Ser2527=)
c.7212A>C (p.Ser2404=)
5g.112843655A>GCA049818APCc.8115A>G (p.Ser2705=)
c.*8067A>G (n.*8067A>G)
c.8007A>G (p.Ser2669=)
c.8061A>G (p.Ser2687=)
c.231-12994A>G
c.8091A>G (p.Ser2697=)
c.7986A>G (p.Ser2662=)
c.7977A>G (p.Ser2659=)
c.7938A>G (p.Ser2646=)
c.7884A>G (p.Ser2628=)
c.7788A>G (p.Ser2596=)
c.7758A>G (p.Ser2586=)
c.7683A>G (p.Ser2561=)
c.7581A>G (p.Ser2527=)
c.7212A>G (p.Ser2404=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843655A>TCA446211049APCc.8115A>T (p.Ser2705=)
c.*8067A>T (n.*8067A>T)
c.8007A>T (p.Ser2669=)
c.8061A>T (p.Ser2687=)
c.231-12994A>T
c.8091A>T (p.Ser2697=)
c.7986A>T (p.Ser2662=)
c.7977A>T (p.Ser2659=)
c.7938A>T (p.Ser2646=)
c.7884A>T (p.Ser2628=)
c.7788A>T (p.Ser2596=)
c.7758A>T (p.Ser2586=)
c.7683A>T (p.Ser2561=)
c.7581A>T (p.Ser2527=)
c.7212A>T (p.Ser2404=)
5g.112843656G>ACA16038833APCc.8116G>A (p.Glu2706Lys)
c.*8068G>A (n.*8068G>A)
c.8008G>A (p.Glu2670Lys)
c.8062G>A (p.Glu2688Lys)
c.231-12993G>A
c.8092G>A (p.Glu2698Lys)
c.7987G>A (p.Glu2663Lys)
c.7978G>A (p.Glu2660Lys)
c.7939G>A (p.Glu2647Lys)
c.7885G>A (p.Glu2629Lys)
c.7789G>A (p.Glu2597Lys)
c.7759G>A (p.Glu2587Lys)
c.7684G>A (p.Glu2562Lys)
c.7582G>A (p.Glu2528Lys)
c.7213G>A (p.Glu2405Lys)
 ClinVar dbSNP
5g.112843656G>CCA16038834APCc.8116G>C (p.Glu2706Gln)
c.*8068G>C (n.*8068G>C)
c.8008G>C (p.Glu2670Gln)
c.8062G>C (p.Glu2688Gln)
c.231-12993G>C
c.8092G>C (p.Glu2698Gln)
c.7987G>C (p.Glu2663Gln)
c.7978G>C (p.Glu2660Gln)
c.7939G>C (p.Glu2647Gln)
c.7885G>C (p.Glu2629Gln)
c.7789G>C (p.Glu2597Gln)
c.7759G>C (p.Glu2587Gln)
c.7684G>C (p.Glu2562Gln)
c.7582G>C (p.Glu2528Gln)
c.7213G>C (p.Glu2405Gln)
 dbSNP gnomAD v4
5g.112843656G>TCA16038835APCc.8116G>T (p.Glu2706Ter)
c.*8068G>T (n.*8068G>T)
c.8008G>T (p.Glu2670Ter)
c.8062G>T (p.Glu2688Ter)
c.231-12993G>T
c.8092G>T (p.Glu2698Ter)
c.7987G>T (p.Glu2663Ter)
c.7978G>T (p.Glu2660Ter)
c.7939G>T (p.Glu2647Ter)
c.7885G>T (p.Glu2629Ter)
c.7789G>T (p.Glu2597Ter)
c.7759G>T (p.Glu2587Ter)
c.7684G>T (p.Glu2562Ter)
c.7582G>T (p.Glu2528Ter)
c.7213G>T (p.Glu2405Ter)
5g.112843657A>CCA16038836APCc.8117A>C (p.Glu2706Ala)
c.*8069A>C (n.*8069A>C)
c.8009A>C (p.Glu2670Ala)
c.8063A>C (p.Glu2688Ala)
c.231-12992A>C
c.8093A>C (p.Glu2698Ala)
c.7988A>C (p.Glu2663Ala)
c.7979A>C (p.Glu2660Ala)
c.7940A>C (p.Glu2647Ala)
c.7886A>C (p.Glu2629Ala)
c.7790A>C (p.Glu2597Ala)
c.7760A>C (p.Glu2587Ala)
c.7685A>C (p.Glu2562Ala)
c.7583A>C (p.Glu2528Ala)
c.7214A>C (p.Glu2405Ala)
 gnomAD v4
5g.112843657A>GCA16038837APCc.8117A>G (p.Glu2706Gly)
c.*8069A>G (n.*8069A>G)
c.8009A>G (p.Glu2670Gly)
c.8063A>G (p.Glu2688Gly)
c.231-12992A>G
c.8093A>G (p.Glu2698Gly)
c.7988A>G (p.Glu2663Gly)
c.7979A>G (p.Glu2660Gly)
c.7940A>G (p.Glu2647Gly)
c.7886A>G (p.Glu2629Gly)
c.7790A>G (p.Glu2597Gly)
c.7760A>G (p.Glu2587Gly)
c.7685A>G (p.Glu2562Gly)
c.7583A>G (p.Glu2528Gly)
c.7214A>G (p.Glu2405Gly)
5g.112843657A>TCA16038838APCc.8117A>T (p.Glu2706Val)
c.*8069A>T (n.*8069A>T)
c.8009A>T (p.Glu2670Val)
c.8063A>T (p.Glu2688Val)
c.231-12992A>T
c.8093A>T (p.Glu2698Val)
c.7988A>T (p.Glu2663Val)
c.7979A>T (p.Glu2660Val)
c.7940A>T (p.Glu2647Val)
c.7886A>T (p.Glu2629Val)
c.7790A>T (p.Glu2597Val)
c.7760A>T (p.Glu2587Val)
c.7685A>T (p.Glu2562Val)
c.7583A>T (p.Glu2528Val)
c.7214A>T (p.Glu2405Val)
5g.112843658A>CCA16038839APCc.8118A>C (p.Glu2706Asp)
c.*8070A>C (n.*8070A>C)
c.8010A>C (p.Glu2670Asp)
c.8064A>C (p.Glu2688Asp)
c.231-12991A>C
c.8094A>C (p.Glu2698Asp)
c.7989A>C (p.Glu2663Asp)
c.7980A>C (p.Glu2660Asp)
c.7941A>C (p.Glu2647Asp)
c.7887A>C (p.Glu2629Asp)
c.7791A>C (p.Glu2597Asp)
c.7761A>C (p.Glu2587Asp)
c.7686A>C (p.Glu2562Asp)
c.7584A>C (p.Glu2528Asp)
c.7215A>C (p.Glu2405Asp)
5g.112843658A>GCA446211050APCc.8118A>G (p.Glu2706=)
c.*8070A>G (n.*8070A>G)
c.8010A>G (p.Glu2670=)
c.8064A>G (p.Glu2688=)
c.231-12991A>G
c.8094A>G (p.Glu2698=)
c.7989A>G (p.Glu2663=)
c.7980A>G (p.Glu2660=)
c.7941A>G (p.Glu2647=)
c.7887A>G (p.Glu2629=)
c.7791A>G (p.Glu2597=)
c.7761A>G (p.Glu2587=)
c.7686A>G (p.Glu2562=)
c.7584A>G (p.Glu2528=)
c.7215A>G (p.Glu2405=)
5g.112843658A>TCA16038840APCc.8118A>T (p.Glu2706Asp)
c.*8070A>T (n.*8070A>T)
c.8010A>T (p.Glu2670Asp)
c.8064A>T (p.Glu2688Asp)
c.231-12991A>T
c.8094A>T (p.Glu2698Asp)
c.7989A>T (p.Glu2663Asp)
c.7980A>T (p.Glu2660Asp)
c.7941A>T (p.Glu2647Asp)
c.7887A>T (p.Glu2629Asp)
c.7791A>T (p.Glu2597Asp)
c.7761A>T (p.Glu2587Asp)
c.7686A>T (p.Glu2562Asp)
c.7584A>T (p.Glu2528Asp)
c.7215A>T (p.Glu2405Asp)
 dbSNP
5g.112843659A=CA1573475787APCc.8119A= (p.Lys2707=)
c.*8071A= (n.*8071A=)
c.8011A= (p.Lys2671=)
c.8065A= (p.Lys2689=)
c.231-12990A=
c.8095A= (p.Lys2699=)
c.7990A= (p.Lys2664=)
c.7981A= (p.Lys2661=)
c.7942A= (p.Lys2648=)
c.7888A= (p.Lys2630=)
c.7792A= (p.Lys2598=)
c.7762A= (p.Lys2588=)
c.7687A= (p.Lys2563=)
c.7585A= (p.Lys2529=)
c.7216A= (p.Lys2406=)
5g.112843659A>CCA16038841APCc.8119A>C (p.Lys2707Gln)
c.*8071A>C (n.*8071A>C)
c.8011A>C (p.Lys2671Gln)
c.8065A>C (p.Lys2689Gln)
c.231-12990A>C
c.8095A>C (p.Lys2699Gln)
c.7990A>C (p.Lys2664Gln)
c.7981A>C (p.Lys2661Gln)
c.7942A>C (p.Lys2648Gln)
c.7888A>C (p.Lys2630Gln)
c.7792A>C (p.Lys2598Gln)
c.7762A>C (p.Lys2588Gln)
c.7687A>C (p.Lys2563Gln)
c.7585A>C (p.Lys2529Gln)
c.7216A>C (p.Lys2406Gln)
5g.112843659A>GCA16038842APCc.8119A>G (p.Lys2707Glu)
c.*8071A>G (n.*8071A>G)
c.8011A>G (p.Lys2671Glu)
c.8065A>G (p.Lys2689Glu)
c.231-12990A>G
c.8095A>G (p.Lys2699Glu)
c.7990A>G (p.Lys2664Glu)
c.7981A>G (p.Lys2661Glu)
c.7942A>G (p.Lys2648Glu)
c.7888A>G (p.Lys2630Glu)
c.7792A>G (p.Lys2598Glu)
c.7762A>G (p.Lys2588Glu)
c.7687A>G (p.Lys2563Glu)
c.7585A>G (p.Lys2529Glu)
c.7216A>G (p.Lys2406Glu)
 ClinVar dbSNP
5g.112843659A>TCA16038843APCc.8119A>T (p.Lys2707Ter)
c.*8071A>T (n.*8071A>T)
c.8011A>T (p.Lys2671Ter)
c.8065A>T (p.Lys2689Ter)
c.231-12990A>T
c.8095A>T (p.Lys2699Ter)
c.7990A>T (p.Lys2664Ter)
c.7981A>T (p.Lys2661Ter)
c.7942A>T (p.Lys2648Ter)
c.7888A>T (p.Lys2630Ter)
c.7792A>T (p.Lys2598Ter)
c.7762A>T (p.Lys2588Ter)
c.7687A>T (p.Lys2563Ter)
c.7585A>T (p.Lys2529Ter)
c.7216A>T (p.Lys2406Ter)
5g.112843660A>CCA16038844APCc.8120A>C (p.Lys2707Thr)
c.*8072A>C (n.*8072A>C)
c.8012A>C (p.Lys2671Thr)
c.8066A>C (p.Lys2689Thr)
c.231-12989A>C
c.8096A>C (p.Lys2699Thr)
c.7991A>C (p.Lys2664Thr)
c.7982A>C (p.Lys2661Thr)
c.7943A>C (p.Lys2648Thr)
c.7889A>C (p.Lys2630Thr)
c.7793A>C (p.Lys2598Thr)
c.7763A>C (p.Lys2588Thr)
c.7688A>C (p.Lys2563Thr)
c.7586A>C (p.Lys2529Thr)
c.7217A>C (p.Lys2406Thr)
5g.112843660A>GCA16038845APCc.8120A>G (p.Lys2707Arg)
c.*8072A>G (n.*8072A>G)
c.8012A>G (p.Lys2671Arg)
c.8066A>G (p.Lys2689Arg)
c.231-12989A>G
c.8096A>G (p.Lys2699Arg)
c.7991A>G (p.Lys2664Arg)
c.7982A>G (p.Lys2661Arg)
c.7943A>G (p.Lys2648Arg)
c.7889A>G (p.Lys2630Arg)
c.7793A>G (p.Lys2598Arg)
c.7763A>G (p.Lys2588Arg)
c.7688A>G (p.Lys2563Arg)
c.7586A>G (p.Lys2529Arg)
c.7217A>G (p.Lys2406Arg)
 dbSNP
5g.112843660A>TCA16038846APCc.8120A>T (p.Lys2707Met)
c.*8072A>T (n.*8072A>T)
c.8012A>T (p.Lys2671Met)
c.8066A>T (p.Lys2689Met)
c.231-12989A>T
c.8096A>T (p.Lys2699Met)
c.7991A>T (p.Lys2664Met)
c.7982A>T (p.Lys2661Met)
c.7943A>T (p.Lys2648Met)
c.7889A>T (p.Lys2630Met)
c.7793A>T (p.Lys2598Met)
c.7763A>T (p.Lys2588Met)
c.7688A>T (p.Lys2563Met)
c.7586A>T (p.Lys2529Met)
c.7217A>T (p.Lys2406Met)
 dbSNP
5g.112843661G>ACA446211051APCc.8121G>A (p.Lys2707=)
c.*8073G>A (n.*8073G>A)
c.8013G>A (p.Lys2671=)
c.8067G>A (p.Lys2689=)
c.231-12988G>A
c.8097G>A (p.Lys2699=)
c.7992G>A (p.Lys2664=)
c.7983G>A (p.Lys2661=)
c.7944G>A (p.Lys2648=)
c.7890G>A (p.Lys2630=)
c.7794G>A (p.Lys2598=)
c.7764G>A (p.Lys2588=)
c.7689G>A (p.Lys2563=)
c.7587G>A (p.Lys2529=)
c.7218G>A (p.Lys2406=)
 dbSNP
5g.112843661G>CCA16038847APCc.8121G>C (p.Lys2707Asn)
c.*8073G>C (n.*8073G>C)
c.8013G>C (p.Lys2671Asn)
c.8067G>C (p.Lys2689Asn)
c.231-12988G>C
c.8097G>C (p.Lys2699Asn)
c.7992G>C (p.Lys2664Asn)
c.7983G>C (p.Lys2661Asn)
c.7944G>C (p.Lys2648Asn)
c.7890G>C (p.Lys2630Asn)
c.7794G>C (p.Lys2598Asn)
c.7764G>C (p.Lys2588Asn)
c.7689G>C (p.Lys2563Asn)
c.7587G>C (p.Lys2529Asn)
c.7218G>C (p.Lys2406Asn)
 ClinVar dbSNP
5g.112843661G=CA1573475793APCc.8121G= (p.Lys2707=)
c.*8073G= (n.*8073G=)
c.8013G= (p.Lys2671=)
c.8067G= (p.Lys2689=)
c.231-12988G=
c.8097G= (p.Lys2699=)
c.7992G= (p.Lys2664=)
c.7983G= (p.Lys2661=)
c.7944G= (p.Lys2648=)
c.7890G= (p.Lys2630=)
c.7794G= (p.Lys2598=)
c.7764G= (p.Lys2588=)
c.7689G= (p.Lys2563=)
c.7587G= (p.Lys2529=)
c.7218G= (p.Lys2406=)
5g.112843661G>TCA16038848APCc.8121G>T (p.Lys2707Asn)
c.*8073G>T (n.*8073G>T)
c.8013G>T (p.Lys2671Asn)
c.8067G>T (p.Lys2689Asn)
c.231-12988G>T
c.8097G>T (p.Lys2699Asn)
c.7992G>T (p.Lys2664Asn)
c.7983G>T (p.Lys2661Asn)
c.7944G>T (p.Lys2648Asn)
c.7890G>T (p.Lys2630Asn)
c.7794G>T (p.Lys2598Asn)
c.7764G>T (p.Lys2588Asn)
c.7689G>T (p.Lys2563Asn)
c.7587G>T (p.Lys2529Asn)
c.7218G>T (p.Lys2406Asn)
 dbSNP
5g.112843662G>ACA014297APCc.8122G>A (p.Ala2708Thr)
c.*8074G>A (n.*8074G>A)
c.8014G>A (p.Ala2672Thr)
c.8068G>A (p.Ala2690Thr)
c.231-12987G>A
c.8098G>A (p.Ala2700Thr)
c.7993G>A (p.Ala2665Thr)
c.7984G>A (p.Ala2662Thr)
c.7945G>A (p.Ala2649Thr)
c.7891G>A (p.Ala2631Thr)
c.7795G>A (p.Ala2599Thr)
c.7765G>A (p.Ala2589Thr)
c.7690G>A (p.Ala2564Thr)
c.7588G>A (p.Ala2530Thr)
c.7219G>A (p.Ala2407Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843662G>CCA16038849APCc.8122G>C (p.Ala2708Pro)
c.*8074G>C (n.*8074G>C)
c.8014G>C (p.Ala2672Pro)
c.8068G>C (p.Ala2690Pro)
c.231-12987G>C
c.8098G>C (p.Ala2700Pro)
c.7993G>C (p.Ala2665Pro)
c.7984G>C (p.Ala2662Pro)
c.7945G>C (p.Ala2649Pro)
c.7891G>C (p.Ala2631Pro)
c.7795G>C (p.Ala2599Pro)
c.7765G>C (p.Ala2589Pro)
c.7690G>C (p.Ala2564Pro)
c.7588G>C (p.Ala2530Pro)
c.7219G>C (p.Ala2407Pro)
 ClinVar dbSNP
5g.112843662G=CA1573475807APCc.8122G= (p.Ala2708=)
c.*8074G= (n.*8074G=)
c.8014G= (p.Ala2672=)
c.8068G= (p.Ala2690=)
c.231-12987G=
c.8098G= (p.Ala2700=)
c.7993G= (p.Ala2665=)
c.7984G= (p.Ala2662=)
c.7945G= (p.Ala2649=)
c.7891G= (p.Ala2631=)
c.7795G= (p.Ala2599=)
c.7765G= (p.Ala2589=)
c.7690G= (p.Ala2564=)
c.7588G= (p.Ala2530=)
c.7219G= (p.Ala2407=)
5g.112843662G>TCA16038850APCc.8122G>T (p.Ala2708Ser)
c.*8074G>T (n.*8074G>T)
c.8014G>T (p.Ala2672Ser)
c.8068G>T (p.Ala2690Ser)
c.231-12987G>T
c.8098G>T (p.Ala2700Ser)
c.7993G>T (p.Ala2665Ser)
c.7984G>T (p.Ala2662Ser)
c.7945G>T (p.Ala2649Ser)
c.7891G>T (p.Ala2631Ser)
c.7795G>T (p.Ala2599Ser)
c.7765G>T (p.Ala2589Ser)
c.7690G>T (p.Ala2564Ser)
c.7588G>T (p.Ala2530Ser)
c.7219G>T (p.Ala2407Ser)
 ClinVar dbSNP
5g.112843663C>ACA16038851APCc.8123C>A (p.Ala2708Glu)
c.*8075C>A (n.*8075C>A)
c.8015C>A (p.Ala2672Glu)
c.8069C>A (p.Ala2690Glu)
c.231-12986C>A
c.8099C>A (p.Ala2700Glu)
c.7994C>A (p.Ala2665Glu)
c.7985C>A (p.Ala2662Glu)
c.7946C>A (p.Ala2649Glu)
c.7892C>A (p.Ala2631Glu)
c.7796C>A (p.Ala2599Glu)
c.7766C>A (p.Ala2589Glu)
c.7691C>A (p.Ala2564Glu)
c.7589C>A (p.Ala2530Glu)
c.7220C>A (p.Ala2407Glu)
 dbSNP
5g.112843663C>GCA16038852APCc.8123C>G (p.Ala2708Gly)
c.*8075C>G (n.*8075C>G)
c.8015C>G (p.Ala2672Gly)
c.8069C>G (p.Ala2690Gly)
c.231-12986C>G
c.8099C>G (p.Ala2700Gly)
c.7994C>G (p.Ala2665Gly)
c.7985C>G (p.Ala2662Gly)
c.7946C>G (p.Ala2649Gly)
c.7892C>G (p.Ala2631Gly)
c.7796C>G (p.Ala2599Gly)
c.7766C>G (p.Ala2589Gly)
c.7691C>G (p.Ala2564Gly)
c.7589C>G (p.Ala2530Gly)
c.7220C>G (p.Ala2407Gly)
 dbSNP
5g.112843663C>TCA16038853APCc.8123C>T (p.Ala2708Val)
c.*8075C>T (n.*8075C>T)
c.8015C>T (p.Ala2672Val)
c.8069C>T (p.Ala2690Val)
c.231-12986C>T
c.8099C>T (p.Ala2700Val)
c.7994C>T (p.Ala2665Val)
c.7985C>T (p.Ala2662Val)
c.7946C>T (p.Ala2649Val)
c.7892C>T (p.Ala2631Val)
c.7796C>T (p.Ala2599Val)
c.7766C>T (p.Ala2589Val)
c.7691C>T (p.Ala2564Val)
c.7589C>T (p.Ala2530Val)
c.7220C>T (p.Ala2407Val)
 dbSNP
5g.112843664A>CCA446211052APCc.8124A>C (p.Ala2708=)
c.*8076A>C (n.*8076A>C)
c.8016A>C (p.Ala2672=)
c.8070A>C (p.Ala2690=)
c.231-12985A>C
c.8100A>C (p.Ala2700=)
c.7995A>C (p.Ala2665=)
c.7986A>C (p.Ala2662=)
c.7947A>C (p.Ala2649=)
c.7893A>C (p.Ala2631=)
c.7797A>C (p.Ala2599=)
c.7767A>C (p.Ala2589=)
c.7692A>C (p.Ala2564=)
c.7590A>C (p.Ala2530=)
c.7221A>C (p.Ala2407=)
 ClinVar
5g.112843664A>GCA446211053APCc.8124A>G (p.Ala2708=)
c.*8076A>G (n.*8076A>G)
c.8016A>G (p.Ala2672=)
c.8070A>G (p.Ala2690=)
c.231-12985A>G
c.8100A>G (p.Ala2700=)
c.7995A>G (p.Ala2665=)
c.7986A>G (p.Ala2662=)
c.7947A>G (p.Ala2649=)
c.7893A>G (p.Ala2631=)
c.7797A>G (p.Ala2599=)
c.7767A>G (p.Ala2589=)
c.7692A>G (p.Ala2564=)
c.7590A>G (p.Ala2530=)
c.7221A>G (p.Ala2407=)
5g.112843664A>TCA446211054APCc.8124A>T (p.Ala2708=)
c.*8076A>T (n.*8076A>T)
c.8016A>T (p.Ala2672=)
c.8070A>T (p.Ala2690=)
c.231-12985A>T
c.8100A>T (p.Ala2700=)
c.7995A>T (p.Ala2665=)
c.7986A>T (p.Ala2662=)
c.7947A>T (p.Ala2649=)
c.7893A>T (p.Ala2631=)
c.7797A>T (p.Ala2599=)
c.7767A>T (p.Ala2589=)
c.7692A>T (p.Ala2564=)
c.7590A>T (p.Ala2530=)
c.7221A>T (p.Ala2407=)
 dbSNP
5g.112843665A=CA1573475818APCc.8125A= (p.Asn2709=)
c.*8077A= (n.*8077A=)
c.8017A= (p.Asn2673=)
c.8071A= (p.Asn2691=)
c.231-12984A=
c.8101A= (p.Asn2701=)
c.7996A= (p.Asn2666=)
c.7987A= (p.Asn2663=)
c.7948A= (p.Asn2650=)
c.7894A= (p.Asn2632=)
c.7798A= (p.Asn2600=)
c.7768A= (p.Asn2590=)
c.7693A= (p.Asn2565=)
c.7591A= (p.Asn2531=)
c.7222A= (p.Asn2408=)
5g.112843665A>CCA16038854APCc.8125A>C (p.Asn2709His)
c.*8077A>C (n.*8077A>C)
c.8017A>C (p.Asn2673His)
c.8071A>C (p.Asn2691His)
c.231-12984A>C
c.8101A>C (p.Asn2701His)
c.7996A>C (p.Asn2666His)
c.7987A>C (p.Asn2663His)
c.7948A>C (p.Asn2650His)
c.7894A>C (p.Asn2632His)
c.7798A>C (p.Asn2600His)
c.7768A>C (p.Asn2590His)
c.7693A>C (p.Asn2565His)
c.7591A>C (p.Asn2531His)
c.7222A>C (p.Asn2408His)
5g.112843665A>GCA16038855APCc.8125A>G (p.Asn2709Asp)
c.*8077A>G (n.*8077A>G)
c.8017A>G (p.Asn2673Asp)
c.8071A>G (p.Asn2691Asp)
c.231-12984A>G
c.8101A>G (p.Asn2701Asp)
c.7996A>G (p.Asn2666Asp)
c.7987A>G (p.Asn2663Asp)
c.7948A>G (p.Asn2650Asp)
c.7894A>G (p.Asn2632Asp)
c.7798A>G (p.Asn2600Asp)
c.7768A>G (p.Asn2590Asp)
c.7693A>G (p.Asn2565Asp)
c.7591A>G (p.Asn2531Asp)
c.7222A>G (p.Asn2408Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112843665A>TCA16038856APCc.8125A>T (p.Asn2709Tyr)
c.*8077A>T (n.*8077A>T)
c.8017A>T (p.Asn2673Tyr)
c.8071A>T (p.Asn2691Tyr)
c.231-12984A>T
c.8101A>T (p.Asn2701Tyr)
c.7996A>T (p.Asn2666Tyr)
c.7987A>T (p.Asn2663Tyr)
c.7948A>T (p.Asn2650Tyr)
c.7894A>T (p.Asn2632Tyr)
c.7798A>T (p.Asn2600Tyr)
c.7768A>T (p.Asn2590Tyr)
c.7693A>T (p.Asn2565Tyr)
c.7591A>T (p.Asn2531Tyr)
c.7222A>T (p.Asn2408Tyr)
5g.112843666A=CA1573475829APCc.8126A= (p.Asn2709=)
c.*8078A= (n.*8078A=)
c.8018A= (p.Asn2673=)
c.8072A= (p.Asn2691=)
c.231-12983A=
c.8102A= (p.Asn2701=)
c.7997A= (p.Asn2666=)
c.7988A= (p.Asn2663=)
c.7949A= (p.Asn2650=)
c.7895A= (p.Asn2632=)
c.7799A= (p.Asn2600=)
c.7769A= (p.Asn2590=)
c.7694A= (p.Asn2565=)
c.7592A= (p.Asn2531=)
c.7223A= (p.Asn2408=)
5g.112843666A>CCA16038857APCc.8126A>C (p.Asn2709Thr)
c.*8078A>C (n.*8078A>C)
c.8018A>C (p.Asn2673Thr)
c.8072A>C (p.Asn2691Thr)
c.231-12983A>C
c.8102A>C (p.Asn2701Thr)
c.7997A>C (p.Asn2666Thr)
c.7988A>C (p.Asn2663Thr)
c.7949A>C (p.Asn2650Thr)
c.7895A>C (p.Asn2632Thr)
c.7799A>C (p.Asn2600Thr)
c.7769A>C (p.Asn2590Thr)
c.7694A>C (p.Asn2565Thr)
c.7592A>C (p.Asn2531Thr)
c.7223A>C (p.Asn2408Thr)
 dbSNP
5g.112843666A>GCA16038858APCc.8126A>G (p.Asn2709Ser)
c.*8078A>G (n.*8078A>G)
c.8018A>G (p.Asn2673Ser)
c.8072A>G (p.Asn2691Ser)
c.231-12983A>G
c.8102A>G (p.Asn2701Ser)
c.7997A>G (p.Asn2666Ser)
c.7988A>G (p.Asn2663Ser)
c.7949A>G (p.Asn2650Ser)
c.7895A>G (p.Asn2632Ser)
c.7799A>G (p.Asn2600Ser)
c.7769A>G (p.Asn2590Ser)
c.7694A>G (p.Asn2565Ser)
c.7592A>G (p.Asn2531Ser)
c.7223A>G (p.Asn2408Ser)
 ClinVar
5g.112843666A>TCA16038859APCc.8126A>T (p.Asn2709Ile)
c.*8078A>T (n.*8078A>T)
c.8018A>T (p.Asn2673Ile)
c.8072A>T (p.Asn2691Ile)
c.231-12983A>T
c.8102A>T (p.Asn2701Ile)
c.7997A>T (p.Asn2666Ile)
c.7988A>T (p.Asn2663Ile)
c.7949A>T (p.Asn2650Ile)
c.7895A>T (p.Asn2632Ile)
c.7799A>T (p.Asn2600Ile)
c.7769A>T (p.Asn2590Ile)
c.7694A>T (p.Asn2565Ile)
c.7592A>T (p.Asn2531Ile)
c.7223A>T (p.Asn2408Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112843667T>ACA16038860APCc.8127T>A (p.Asn2709Lys)
c.*8079T>A (n.*8079T>A)
c.8019T>A (p.Asn2673Lys)
c.8073T>A (p.Asn2691Lys)
c.231-12982T>A
c.8103T>A (p.Asn2701Lys)
c.7998T>A (p.Asn2666Lys)
c.7989T>A (p.Asn2663Lys)
c.7950T>A (p.Asn2650Lys)
c.7896T>A (p.Asn2632Lys)
c.7800T>A (p.Asn2600Lys)
c.7770T>A (p.Asn2590Lys)
c.7695T>A (p.Asn2565Lys)
c.7593T>A (p.Asn2531Lys)
c.7224T>A (p.Asn2408Lys)
5g.112843667T>CCA446211055APCc.8127T>C (p.Asn2709=)
c.*8079T>C (n.*8079T>C)
c.8019T>C (p.Asn2673=)
c.8073T>C (p.Asn2691=)
c.231-12982T>C
c.8103T>C (p.Asn2701=)
c.7998T>C (p.Asn2666=)
c.7989T>C (p.Asn2663=)
c.7950T>C (p.Asn2650=)
c.7896T>C (p.Asn2632=)
c.7800T>C (p.Asn2600=)
c.7770T>C (p.Asn2590=)
c.7695T>C (p.Asn2565=)
c.7593T>C (p.Asn2531=)
c.7224T>C (p.Asn2408=)
5g.112843667T>GCA16038861APCc.8127T>G (p.Asn2709Lys)
c.*8079T>G (n.*8079T>G)
c.8019T>G (p.Asn2673Lys)
c.8073T>G (p.Asn2691Lys)
c.231-12982T>G
c.8103T>G (p.Asn2701Lys)
c.7998T>G (p.Asn2666Lys)
c.7989T>G (p.Asn2663Lys)
c.7950T>G (p.Asn2650Lys)
c.7896T>G (p.Asn2632Lys)
c.7800T>G (p.Asn2600Lys)
c.7770T>G (p.Asn2590Lys)
c.7695T>G (p.Asn2565Lys)
c.7593T>G (p.Asn2531Lys)
c.7224T>G (p.Asn2408Lys)
5g.112843668C>ACA16038862APCc.8128C>A (p.Pro2710Thr)
c.*8080C>A (n.*8080C>A)
c.8020C>A (p.Pro2674Thr)
c.8074C>A (p.Pro2692Thr)
c.231-12981C>A
c.8104C>A (p.Pro2702Thr)
c.7999C>A (p.Pro2667Thr)
c.7990C>A (p.Pro2664Thr)
c.7951C>A (p.Pro2651Thr)
c.7897C>A (p.Pro2633Thr)
c.7801C>A (p.Pro2601Thr)
c.7771C>A (p.Pro2591Thr)
c.7696C>A (p.Pro2566Thr)
c.7594C>A (p.Pro2532Thr)
c.7225C>A (p.Pro2409Thr)
 dbSNP
5g.112843668C>GCA16038863APCc.8128C>G (p.Pro2710Ala)
c.*8080C>G (n.*8080C>G)
c.8020C>G (p.Pro2674Ala)
c.8074C>G (p.Pro2692Ala)
c.231-12981C>G
c.8104C>G (p.Pro2702Ala)
c.7999C>G (p.Pro2667Ala)
c.7990C>G (p.Pro2664Ala)
c.7951C>G (p.Pro2651Ala)
c.7897C>G (p.Pro2633Ala)
c.7801C>G (p.Pro2601Ala)
c.7771C>G (p.Pro2591Ala)
c.7696C>G (p.Pro2566Ala)
c.7594C>G (p.Pro2532Ala)
c.7225C>G (p.Pro2409Ala)
 ClinVar dbSNP
5g.112843668C>TCA16038864APCc.8128C>T (p.Pro2710Ser)
c.*8080C>T (n.*8080C>T)
c.8020C>T (p.Pro2674Ser)
c.8074C>T (p.Pro2692Ser)
c.231-12981C>T
c.8104C>T (p.Pro2702Ser)
c.7999C>T (p.Pro2667Ser)
c.7990C>T (p.Pro2664Ser)
c.7951C>T (p.Pro2651Ser)
c.7897C>T (p.Pro2633Ser)
c.7801C>T (p.Pro2601Ser)
c.7771C>T (p.Pro2591Ser)
c.7696C>T (p.Pro2566Ser)
c.7594C>T (p.Pro2532Ser)
c.7225C>T (p.Pro2409Ser)
 dbSNP
5g.112843669C>ACA16038865APCc.8129C>A (p.Pro2710Gln)
c.*8081C>A (n.*8081C>A)
c.8021C>A (p.Pro2674Gln)
c.8075C>A (p.Pro2692Gln)
c.231-12980C>A
c.8105C>A (p.Pro2702Gln)
c.8000C>A (p.Pro2667Gln)
c.7991C>A (p.Pro2664Gln)
c.7952C>A (p.Pro2651Gln)
c.7898C>A (p.Pro2633Gln)
c.7802C>A (p.Pro2601Gln)
c.7772C>A (p.Pro2591Gln)
c.7697C>A (p.Pro2566Gln)
c.7595C>A (p.Pro2532Gln)
c.7226C>A (p.Pro2409Gln)
5g.112843669C=CA1573475842APCc.8129C= (p.Pro2710=)
c.*8081C= (n.*8081C=)
c.8021C= (p.Pro2674=)
c.8075C= (p.Pro2692=)
c.231-12980C=
c.8105C= (p.Pro2702=)
c.8000C= (p.Pro2667=)
c.7991C= (p.Pro2664=)
c.7952C= (p.Pro2651=)
c.7898C= (p.Pro2633=)
c.7802C= (p.Pro2601=)
c.7772C= (p.Pro2591=)
c.7697C= (p.Pro2566=)
c.7595C= (p.Pro2532=)
c.7226C= (p.Pro2409=)
5g.112843669C>GCA16038866APCc.8129C>G (p.Pro2710Arg)
c.*8081C>G (n.*8081C>G)
c.8021C>G (p.Pro2674Arg)
c.8075C>G (p.Pro2692Arg)
c.231-12980C>G
c.8105C>G (p.Pro2702Arg)
c.8000C>G (p.Pro2667Arg)
c.7991C>G (p.Pro2664Arg)
c.7952C>G (p.Pro2651Arg)
c.7898C>G (p.Pro2633Arg)
c.7802C>G (p.Pro2601Arg)
c.7772C>G (p.Pro2591Arg)
c.7697C>G (p.Pro2566Arg)
c.7595C>G (p.Pro2532Arg)
c.7226C>G (p.Pro2409Arg)
 ClinVar
5g.112843669C>TCA10584267APCc.8129C>T (p.Pro2710Leu)
c.*8081C>T (n.*8081C>T)
c.8021C>T (p.Pro2674Leu)
c.8075C>T (p.Pro2692Leu)
c.231-12980C>T
c.8105C>T (p.Pro2702Leu)
c.8000C>T (p.Pro2667Leu)
c.7991C>T (p.Pro2664Leu)
c.7952C>T (p.Pro2651Leu)
c.7898C>T (p.Pro2633Leu)
c.7802C>T (p.Pro2601Leu)
c.7772C>T (p.Pro2591Leu)
c.7697C>T (p.Pro2566Leu)
c.7595C>T (p.Pro2532Leu)
c.7226C>T (p.Pro2409Leu)
 ClinVar dbSNP gnomAD v4
5g.112843670A>CCA446211056APCc.8130A>C (p.Pro2710=)
c.*8082A>C (n.*8082A>C)
c.8022A>C (p.Pro2674=)
c.8076A>C (p.Pro2692=)
c.231-12979A>C
c.8106A>C (p.Pro2702=)
c.8001A>C (p.Pro2667=)
c.7992A>C (p.Pro2664=)
c.7953A>C (p.Pro2651=)
c.7899A>C (p.Pro2633=)
c.7803A>C (p.Pro2601=)
c.7773A>C (p.Pro2591=)
c.7698A>C (p.Pro2566=)
c.7596A>C (p.Pro2532=)
c.7227A>C (p.Pro2409=)
5g.112843670A>GCA446211057APCc.8130A>G (p.Pro2710=)
c.*8082A>G (n.*8082A>G)
c.8022A>G (p.Pro2674=)
c.8076A>G (p.Pro2692=)
c.231-12979A>G
c.8106A>G (p.Pro2702=)
c.8001A>G (p.Pro2667=)
c.7992A>G (p.Pro2664=)
c.7953A>G (p.Pro2651=)
c.7899A>G (p.Pro2633=)
c.7803A>G (p.Pro2601=)
c.7773A>G (p.Pro2591=)
c.7698A>G (p.Pro2566=)
c.7596A>G (p.Pro2532=)
c.7227A>G (p.Pro2409=)
 dbSNP
5g.112843670A>TCA446211058APCc.8130A>T (p.Pro2710=)
c.*8082A>T (n.*8082A>T)
c.8022A>T (p.Pro2674=)
c.8076A>T (p.Pro2692=)
c.231-12979A>T
c.8106A>T (p.Pro2702=)
c.8001A>T (p.Pro2667=)
c.7992A>T (p.Pro2664=)
c.7953A>T (p.Pro2651=)
c.7899A>T (p.Pro2633=)
c.7803A>T (p.Pro2601=)
c.7773A>T (p.Pro2591=)
c.7698A>T (p.Pro2566=)
c.7596A>T (p.Pro2532=)
c.7227A>T (p.Pro2409=)
 dbSNP
5g.112843671A>CCA16038867APCc.8131A>C (p.Asn2711His)
c.*8083A>C (n.*8083A>C)
c.8023A>C (p.Asn2675His)
c.8077A>C (p.Asn2693His)
c.231-12978A>C
c.8107A>C (p.Asn2703His)
c.8002A>C (p.Asn2668His)
c.7993A>C (p.Asn2665His)
c.7954A>C (p.Asn2652His)
c.7900A>C (p.Asn2634His)
c.7804A>C (p.Asn2602His)
c.7774A>C (p.Asn2592His)
c.7699A>C (p.Asn2567His)
c.7597A>C (p.Asn2533His)
c.7228A>C (p.Asn2410His)
5g.112843671A>GCA16038868APCc.8131A>G (p.Asn2711Asp)
c.*8083A>G (n.*8083A>G)
c.8023A>G (p.Asn2675Asp)
c.8077A>G (p.Asn2693Asp)
c.231-12978A>G
c.8107A>G (p.Asn2703Asp)
c.8002A>G (p.Asn2668Asp)
c.7993A>G (p.Asn2665Asp)
c.7954A>G (p.Asn2652Asp)
c.7900A>G (p.Asn2634Asp)
c.7804A>G (p.Asn2602Asp)
c.7774A>G (p.Asn2592Asp)
c.7699A>G (p.Asn2567Asp)
c.7597A>G (p.Asn2533Asp)
c.7228A>G (p.Asn2410Asp)
 ClinVar
5g.112843671A>TCA16038869APCc.8131A>T (p.Asn2711Tyr)
c.*8083A>T (n.*8083A>T)
c.8023A>T (p.Asn2675Tyr)
c.8077A>T (p.Asn2693Tyr)
c.231-12978A>T
c.8107A>T (p.Asn2703Tyr)
c.8002A>T (p.Asn2668Tyr)
c.7993A>T (p.Asn2665Tyr)
c.7954A>T (p.Asn2652Tyr)
c.7900A>T (p.Asn2634Tyr)
c.7804A>T (p.Asn2602Tyr)
c.7774A>T (p.Asn2592Tyr)
c.7699A>T (p.Asn2567Tyr)
c.7597A>T (p.Asn2533Tyr)
c.7228A>T (p.Asn2410Tyr)
 dbSNP
5g.112843672A>CCA16038870APCc.8132A>C (p.Asn2711Thr)
c.*8084A>C (n.*8084A>C)
c.8024A>C (p.Asn2675Thr)
c.8078A>C (p.Asn2693Thr)
c.231-12977A>C
c.8108A>C (p.Asn2703Thr)
c.8003A>C (p.Asn2668Thr)
c.7994A>C (p.Asn2665Thr)
c.7955A>C (p.Asn2652Thr)
c.7901A>C (p.Asn2634Thr)
c.7805A>C (p.Asn2602Thr)
c.7775A>C (p.Asn2592Thr)
c.7700A>C (p.Asn2567Thr)
c.7598A>C (p.Asn2533Thr)
c.7229A>C (p.Asn2410Thr)
5g.112843672A>GCA16038871APCc.8132A>G (p.Asn2711Ser)
c.*8084A>G (n.*8084A>G)
c.8024A>G (p.Asn2675Ser)
c.8078A>G (p.Asn2693Ser)
c.231-12977A>G
c.8108A>G (p.Asn2703Ser)
c.8003A>G (p.Asn2668Ser)
c.7994A>G (p.Asn2665Ser)
c.7955A>G (p.Asn2652Ser)
c.7901A>G (p.Asn2634Ser)
c.7805A>G (p.Asn2602Ser)
c.7775A>G (p.Asn2592Ser)
c.7700A>G (p.Asn2567Ser)
c.7598A>G (p.Asn2533Ser)
c.7229A>G (p.Asn2410Ser)
 dbSNP
5g.112843672A>TCA16038872APCc.8132A>T (p.Asn2711Ile)
c.*8084A>T (n.*8084A>T)
c.8024A>T (p.Asn2675Ile)
c.8078A>T (p.Asn2693Ile)
c.231-12977A>T
c.8108A>T (p.Asn2703Ile)
c.8003A>T (p.Asn2668Ile)
c.7994A>T (p.Asn2665Ile)
c.7955A>T (p.Asn2652Ile)
c.7901A>T (p.Asn2634Ile)
c.7805A>T (p.Asn2602Ile)
c.7775A>T (p.Asn2592Ile)
c.7700A>T (p.Asn2567Ile)
c.7598A>T (p.Asn2533Ile)
c.7229A>T (p.Asn2410Ile)
 dbSNP
5g.112843673C>ACA16038873APCc.8133C>A (p.Asn2711Lys)
c.*8085C>A (n.*8085C>A)
c.8025C>A (p.Asn2675Lys)
c.8079C>A (p.Asn2693Lys)
c.231-12976C>A
c.8109C>A (p.Asn2703Lys)
c.8004C>A (p.Asn2668Lys)
c.7995C>A (p.Asn2665Lys)
c.7956C>A (p.Asn2652Lys)
c.7902C>A (p.Asn2634Lys)
c.7806C>A (p.Asn2602Lys)
c.7776C>A (p.Asn2592Lys)
c.7701C>A (p.Asn2567Lys)
c.7599C>A (p.Asn2533Lys)
c.7230C>A (p.Asn2410Lys)
 dbSNP
5g.112843673C=CA1573475847APCc.8133C= (p.Asn2711=)
c.*8085C= (n.*8085C=)
c.8025C= (p.Asn2675=)
c.8079C= (p.Asn2693=)
c.231-12976C=
c.8109C= (p.Asn2703=)
c.8004C= (p.Asn2668=)
c.7995C= (p.Asn2665=)
c.7956C= (p.Asn2652=)
c.7902C= (p.Asn2634=)
c.7806C= (p.Asn2602=)
c.7776C= (p.Asn2592=)
c.7701C= (p.Asn2567=)
c.7599C= (p.Asn2533=)
c.7230C= (p.Asn2410=)
5g.112843673C>GCA16038874APCc.8133C>G (p.Asn2711Lys)
c.*8085C>G (n.*8085C>G)
c.8025C>G (p.Asn2675Lys)
c.8079C>G (p.Asn2693Lys)
c.231-12976C>G
c.8109C>G (p.Asn2703Lys)
c.8004C>G (p.Asn2668Lys)
c.7995C>G (p.Asn2665Lys)
c.7956C>G (p.Asn2652Lys)
c.7902C>G (p.Asn2634Lys)
c.7806C>G (p.Asn2602Lys)
c.7776C>G (p.Asn2592Lys)
c.7701C>G (p.Asn2567Lys)
c.7599C>G (p.Asn2533Lys)
c.7230C>G (p.Asn2410Lys)
 dbSNP
5g.112843673C>TCA446211059APCc.8133C>T (p.Asn2711=)
c.*8085C>T (n.*8085C>T)
c.8025C>T (p.Asn2675=)
c.8079C>T (p.Asn2693=)
c.231-12976C>T
c.8109C>T (p.Asn2703=)
c.8004C>T (p.Asn2668=)
c.7995C>T (p.Asn2665=)
c.7956C>T (p.Asn2652=)
c.7902C>T (p.Asn2634=)
c.7806C>T (p.Asn2602=)
c.7776C>T (p.Asn2592=)
c.7701C>T (p.Asn2567=)
c.7599C>T (p.Asn2533=)
c.7230C>T (p.Asn2410=)
 ClinVar dbSNP gnomAD v4
5g.112843674A=CA1573475854APCc.8134A= (p.Ile2712=)
c.*8086A= (n.*8086A=)
c.8026A= (p.Ile2676=)
c.8080A= (p.Ile2694=)
c.231-12975A=
c.8110A= (p.Ile2704=)
c.8005A= (p.Ile2669=)
c.7996A= (p.Ile2666=)
c.7957A= (p.Ile2653=)
c.7903A= (p.Ile2635=)
c.7807A= (p.Ile2603=)
c.7777A= (p.Ile2593=)
c.7702A= (p.Ile2568=)
c.7600A= (p.Ile2534=)
c.7231A= (p.Ile2411=)
5g.112843674A>CCA16038875APCc.8134A>C (p.Ile2712Leu)
c.*8086A>C (n.*8086A>C)
c.8026A>C (p.Ile2676Leu)
c.8080A>C (p.Ile2694Leu)
c.231-12975A>C
c.8110A>C (p.Ile2704Leu)
c.8005A>C (p.Ile2669Leu)
c.7996A>C (p.Ile2666Leu)
c.7957A>C (p.Ile2653Leu)
c.7903A>C (p.Ile2635Leu)
c.7807A>C (p.Ile2603Leu)
c.7777A>C (p.Ile2593Leu)
c.7702A>C (p.Ile2568Leu)
c.7600A>C (p.Ile2534Leu)
c.7231A>C (p.Ile2411Leu)
 ClinVar dbSNP
5g.112843674A>GCA049844APCc.8134A>G (p.Ile2712Val)
c.*8086A>G (n.*8086A>G)
c.8026A>G (p.Ile2676Val)
c.8080A>G (p.Ile2694Val)
c.231-12975A>G
c.8110A>G (p.Ile2704Val)
c.8005A>G (p.Ile2669Val)
c.7996A>G (p.Ile2666Val)
c.7957A>G (p.Ile2653Val)
c.7903A>G (p.Ile2635Val)
c.7807A>G (p.Ile2603Val)
c.7777A>G (p.Ile2593Val)
c.7702A>G (p.Ile2568Val)
c.7600A>G (p.Ile2534Val)
c.7231A>G (p.Ile2411Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112843674A>TCA16038876APCc.8134A>T (p.Ile2712Phe)
c.*8086A>T (n.*8086A>T)
c.8026A>T (p.Ile2676Phe)
c.8080A>T (p.Ile2694Phe)
c.231-12975A>T
c.8110A>T (p.Ile2704Phe)
c.8005A>T (p.Ile2669Phe)
c.7996A>T (p.Ile2666Phe)
c.7957A>T (p.Ile2653Phe)
c.7903A>T (p.Ile2635Phe)
c.7807A>T (p.Ile2603Phe)
c.7777A>T (p.Ile2593Phe)
c.7702A>T (p.Ile2568Phe)
c.7600A>T (p.Ile2534Phe)
c.7231A>T (p.Ile2411Phe)
5g.112843675_112843677delCA2580072460APCc.8135_8137del (p.Ile2712del)
c.*8087_*8089del (n.*8087_*8089del)
c.8027_8029del (p.Ile2676del)
c.8081_8083del (p.Ile2694del)
c.231-12974_231-12972del
c.8111_8113del (p.Ile2704del)
c.8006_8008del (p.Ile2669del)
c.7997_7999del (p.Ile2666del)
c.7958_7960del (p.Ile2653del)
c.7904_7906del (p.Ile2635del)
c.7808_7810del (p.Ile2603del)
c.7778_7780del (p.Ile2593del)
c.7703_7705del (p.Ile2568del)
c.7601_7603del (p.Ile2534del)
c.7232_7234del (p.Ile2411del)
 ClinVar
5g.112843675T>ACA16038877APCc.8135T>A (p.Ile2712Asn)
c.*8087T>A (n.*8087T>A)
c.8027T>A (p.Ile2676Asn)
c.8081T>A (p.Ile2694Asn)
c.231-12974T>A
c.8111T>A (p.Ile2704Asn)
c.8006T>A (p.Ile2669Asn)
c.7997T>A (p.Ile2666Asn)
c.7958T>A (p.Ile2653Asn)
c.7904T>A (p.Ile2635Asn)
c.7808T>A (p.Ile2603Asn)
c.7778T>A (p.Ile2593Asn)
c.7703T>A (p.Ile2568Asn)
c.7601T>A (p.Ile2534Asn)
c.7232T>A (p.Ile2411Asn)
5g.112843675T>CCA16038878APCc.8135T>C (p.Ile2712Thr)
c.*8087T>C (n.*8087T>C)
c.8027T>C (p.Ile2676Thr)
c.8081T>C (p.Ile2694Thr)
c.231-12974T>C
c.8111T>C (p.Ile2704Thr)
c.8006T>C (p.Ile2669Thr)
c.7997T>C (p.Ile2666Thr)
c.7958T>C (p.Ile2653Thr)
c.7904T>C (p.Ile2635Thr)
c.7808T>C (p.Ile2603Thr)
c.7778T>C (p.Ile2593Thr)
c.7703T>C (p.Ile2568Thr)
c.7601T>C (p.Ile2534Thr)
c.7232T>C (p.Ile2411Thr)
5g.112843675T>GCA16038879APCc.8135T>G (p.Ile2712Ser)
c.*8087T>G (n.*8087T>G)
c.8027T>G (p.Ile2676Ser)
c.8081T>G (p.Ile2694Ser)
c.231-12974T>G
c.8111T>G (p.Ile2704Ser)
c.8006T>G (p.Ile2669Ser)
c.7997T>G (p.Ile2666Ser)
c.7958T>G (p.Ile2653Ser)
c.7904T>G (p.Ile2635Ser)
c.7808T>G (p.Ile2603Ser)
c.7778T>G (p.Ile2593Ser)
c.7703T>G (p.Ile2568Ser)
c.7601T>G (p.Ile2534Ser)
c.7232T>G (p.Ile2411Ser)
5g.112843676T>ACA446211060APCc.8136T>A (p.Ile2712=)
c.*8088T>A (n.*8088T>A)
c.8028T>A (p.Ile2676=)
c.8082T>A (p.Ile2694=)
c.231-12973T>A
c.8112T>A (p.Ile2704=)
c.8007T>A (p.Ile2669=)
c.7998T>A (p.Ile2666=)
c.7959T>A (p.Ile2653=)
c.7905T>A (p.Ile2635=)
c.7809T>A (p.Ile2603=)
c.7779T>A (p.Ile2593=)
c.7704T>A (p.Ile2568=)
c.7602T>A (p.Ile2534=)
c.7233T>A (p.Ile2411=)
 ClinVar dbSNP
5g.112843676T>CCA446211061APCc.8136T>C (p.Ile2712=)
c.*8088T>C (n.*8088T>C)
c.8028T>C (p.Ile2676=)
c.8082T>C (p.Ile2694=)
c.231-12973T>C
c.8112T>C (p.Ile2704=)
c.8007T>C (p.Ile2669=)
c.7998T>C (p.Ile2666=)
c.7959T>C (p.Ile2653=)
c.7905T>C (p.Ile2635=)
c.7809T>C (p.Ile2603=)
c.7779T>C (p.Ile2593=)
c.7704T>C (p.Ile2568=)
c.7602T>C (p.Ile2534=)
c.7233T>C (p.Ile2411=)
 ClinVar
5g.112843676T>GCA16038880APCc.8136T>G (p.Ile2712Met)
c.*8088T>G (n.*8088T>G)
c.8028T>G (p.Ile2676Met)
c.8082T>G (p.Ile2694Met)
c.231-12973T>G
c.8112T>G (p.Ile2704Met)
c.8007T>G (p.Ile2669Met)
c.7998T>G (p.Ile2666Met)
c.7959T>G (p.Ile2653Met)
c.7905T>G (p.Ile2635Met)
c.7809T>G (p.Ile2603Met)
c.7779T>G (p.Ile2593Met)
c.7704T>G (p.Ile2568Met)
c.7602T>G (p.Ile2534Met)
c.7233T>G (p.Ile2411Met)
 ClinVar
5g.112843677A>CCA16038881APCc.8137A>C (p.Lys2713Gln)
c.*8089A>C (n.*8089A>C)
c.8029A>C (p.Lys2677Gln)
c.8083A>C (p.Lys2695Gln)
c.231-12972A>C
c.8113A>C (p.Lys2705Gln)
c.8008A>C (p.Lys2670Gln)
c.7999A>C (p.Lys2667Gln)
c.7960A>C (p.Lys2654Gln)
c.7906A>C (p.Lys2636Gln)
c.7810A>C (p.Lys2604Gln)
c.7780A>C (p.Lys2594Gln)
c.7705A>C (p.Lys2569Gln)
c.7603A>C (p.Lys2535Gln)
c.7234A>C (p.Lys2412Gln)
 dbSNP
5g.112843677A>GCA16038882APCc.8137A>G (p.Lys2713Glu)
c.*8089A>G (n.*8089A>G)
c.8029A>G (p.Lys2677Glu)
c.8083A>G (p.Lys2695Glu)
c.231-12972A>G
c.8113A>G (p.Lys2705Glu)
c.8008A>G (p.Lys2670Glu)
c.7999A>G (p.Lys2667Glu)
c.7960A>G (p.Lys2654Glu)
c.7906A>G (p.Lys2636Glu)
c.7810A>G (p.Lys2604Glu)
c.7780A>G (p.Lys2594Glu)
c.7705A>G (p.Lys2569Glu)
c.7603A>G (p.Lys2535Glu)
c.7234A>G (p.Lys2412Glu)
 ClinVar gnomAD v4
5g.112843677A>TCA16038883APCc.8137A>T (p.Lys2713Ter)
c.*8089A>T (n.*8089A>T)
c.8029A>T (p.Lys2677Ter)
c.8083A>T (p.Lys2695Ter)
c.231-12972A>T
c.8113A>T (p.Lys2705Ter)
c.8008A>T (p.Lys2670Ter)
c.7999A>T (p.Lys2667Ter)
c.7960A>T (p.Lys2654Ter)
c.7906A>T (p.Lys2636Ter)
c.7810A>T (p.Lys2604Ter)
c.7780A>T (p.Lys2594Ter)
c.7705A>T (p.Lys2569Ter)
c.7603A>T (p.Lys2535Ter)
c.7234A>T (p.Lys2412Ter)
 dbSNP
5g.112843678A>CCA16038884APCc.8138A>C (p.Lys2713Thr)
c.*8090A>C (n.*8090A>C)
c.8030A>C (p.Lys2677Thr)
c.8084A>C (p.Lys2695Thr)
c.231-12971A>C
c.8114A>C (p.Lys2705Thr)
c.8009A>C (p.Lys2670Thr)
c.8000A>C (p.Lys2667Thr)
c.7961A>C (p.Lys2654Thr)
c.7907A>C (p.Lys2636Thr)
c.7811A>C (p.Lys2604Thr)
c.7781A>C (p.Lys2594Thr)
c.7706A>C (p.Lys2569Thr)
c.7604A>C (p.Lys2535Thr)
c.7235A>C (p.Lys2412Thr)
 dbSNP
5g.112843678A>GCA16038885APCc.8138A>G (p.Lys2713Arg)
c.*8090A>G (n.*8090A>G)
c.8030A>G (p.Lys2677Arg)
c.8084A>G (p.Lys2695Arg)
c.231-12971A>G
c.8114A>G (p.Lys2705Arg)
c.8009A>G (p.Lys2670Arg)
c.8000A>G (p.Lys2667Arg)
c.7961A>G (p.Lys2654Arg)
c.7907A>G (p.Lys2636Arg)
c.7811A>G (p.Lys2604Arg)
c.7781A>G (p.Lys2594Arg)
c.7706A>G (p.Lys2569Arg)
c.7604A>G (p.Lys2535Arg)
c.7235A>G (p.Lys2412Arg)
 gnomAD v4
5g.112843678A>TCA16038886APCc.8138A>T (p.Lys2713Ile)
c.*8090A>T (n.*8090A>T)
c.8030A>T (p.Lys2677Ile)
c.8084A>T (p.Lys2695Ile)
c.231-12971A>T
c.8114A>T (p.Lys2705Ile)
c.8009A>T (p.Lys2670Ile)
c.8000A>T (p.Lys2667Ile)
c.7961A>T (p.Lys2654Ile)
c.7907A>T (p.Lys2636Ile)
c.7811A>T (p.Lys2604Ile)
c.7781A>T (p.Lys2594Ile)
c.7706A>T (p.Lys2569Ile)
c.7604A>T (p.Lys2535Ile)
c.7235A>T (p.Lys2412Ile)
 dbSNP
5g.112843679A>CCA16038887APCc.8139A>C (p.Lys2713Asn)
c.*8091A>C (n.*8091A>C)
c.8031A>C (p.Lys2677Asn)
c.8085A>C (p.Lys2695Asn)
c.231-12970A>C
c.8115A>C (p.Lys2705Asn)
c.8010A>C (p.Lys2670Asn)
c.8001A>C (p.Lys2667Asn)
c.7962A>C (p.Lys2654Asn)
c.7908A>C (p.Lys2636Asn)
c.7812A>C (p.Lys2604Asn)
c.7782A>C (p.Lys2594Asn)
c.7707A>C (p.Lys2569Asn)
c.7605A>C (p.Lys2535Asn)
c.7236A>C (p.Lys2412Asn)
5g.112843679A>GCA446211062APCc.8139A>G (p.Lys2713=)
c.*8091A>G (n.*8091A>G)
c.8031A>G (p.Lys2677=)
c.8085A>G (p.Lys2695=)
c.231-12970A>G
c.8115A>G (p.Lys2705=)
c.8010A>G (p.Lys2670=)
c.8001A>G (p.Lys2667=)
c.7962A>G (p.Lys2654=)
c.7908A>G (p.Lys2636=)
c.7812A>G (p.Lys2604=)
c.7782A>G (p.Lys2594=)
c.7707A>G (p.Lys2569=)
c.7605A>G (p.Lys2535=)
c.7236A>G (p.Lys2412=)
 ClinVar dbSNP
5g.112843679A>TCA16038888APCc.8139A>T (p.Lys2713Asn)
c.*8091A>T (n.*8091A>T)
c.8031A>T (p.Lys2677Asn)
c.8085A>T (p.Lys2695Asn)
c.231-12970A>T
c.8115A>T (p.Lys2705Asn)
c.8010A>T (p.Lys2670Asn)
c.8001A>T (p.Lys2667Asn)
c.7962A>T (p.Lys2654Asn)
c.7908A>T (p.Lys2636Asn)
c.7812A>T (p.Lys2604Asn)
c.7782A>T (p.Lys2594Asn)
c.7707A>T (p.Lys2569Asn)
c.7605A>T (p.Lys2535Asn)
c.7236A>T (p.Lys2412Asn)
5g.112843680G>ACA16038889APCc.8140G>A (p.Asp2714Asn)
c.*8092G>A (n.*8092G>A)
c.8032G>A (p.Asp2678Asn)
c.8086G>A (p.Asp2696Asn)
c.231-12969G>A
c.8116G>A (p.Asp2706Asn)
c.8011G>A (p.Asp2671Asn)
c.8002G>A (p.Asp2668Asn)
c.7963G>A (p.Asp2655Asn)
c.7909G>A (p.Asp2637Asn)
c.7813G>A (p.Asp2605Asn)
c.7783G>A (p.Asp2595Asn)
c.7708G>A (p.Asp2570Asn)
c.7606G>A (p.Asp2536Asn)
c.7237G>A (p.Asp2413Asn)
 ClinVar dbSNP
5g.112843680G>CCA16038890APCc.8140G>C (p.Asp2714His)
c.*8092G>C (n.*8092G>C)
c.8032G>C (p.Asp2678His)
c.8086G>C (p.Asp2696His)
c.231-12969G>C
c.8116G>C (p.Asp2706His)
c.8011G>C (p.Asp2671His)
c.8002G>C (p.Asp2668His)
c.7963G>C (p.Asp2655His)
c.7909G>C (p.Asp2637His)
c.7813G>C (p.Asp2605His)
c.7783G>C (p.Asp2595His)
c.7708G>C (p.Asp2570His)
c.7606G>C (p.Asp2536His)
c.7237G>C (p.Asp2413His)
 ClinVar dbSNP
5g.112843680G=CA1573475862APCc.8140G= (p.Asp2714=)
c.*8092G= (n.*8092G=)
c.8032G= (p.Asp2678=)
c.8086G= (p.Asp2696=)
c.231-12969G=
c.8116G= (p.Asp2706=)
c.8011G= (p.Asp2671=)
c.8002G= (p.Asp2668=)
c.7963G= (p.Asp2655=)
c.7909G= (p.Asp2637=)
c.7813G= (p.Asp2605=)
c.7783G= (p.Asp2595=)
c.7708G= (p.Asp2570=)
c.7606G= (p.Asp2536=)
c.7237G= (p.Asp2413=)
5g.112843680G>TCA049854APCc.8140G>T (p.Asp2714Tyr)
c.*8092G>T (n.*8092G>T)
c.8032G>T (p.Asp2678Tyr)
c.8086G>T (p.Asp2696Tyr)
c.231-12969G>T
c.8116G>T (p.Asp2706Tyr)
c.8011G>T (p.Asp2671Tyr)
c.8002G>T (p.Asp2668Tyr)
c.7963G>T (p.Asp2655Tyr)
c.7909G>T (p.Asp2637Tyr)
c.7813G>T (p.Asp2605Tyr)
c.7783G>T (p.Asp2595Tyr)
c.7708G>T (p.Asp2570Tyr)
c.7606G>T (p.Asp2536Tyr)
c.7237G>T (p.Asp2413Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
5g.112843681A=CA1573475869APCc.8141A= (p.Asp2714=)
c.*8093A= (n.*8093A=)
c.8033A= (p.Asp2678=)
c.8087A= (p.Asp2696=)
c.231-12968A=
c.8117A= (p.Asp2706=)
c.8012A= (p.Asp2671=)
c.8003A= (p.Asp2668=)
c.7964A= (p.Asp2655=)
c.7910A= (p.Asp2637=)
c.7814A= (p.Asp2605=)
c.7784A= (p.Asp2595=)
c.7709A= (p.Asp2570=)
c.7607A= (p.Asp2536=)
c.7238A= (p.Asp2413=)
5g.112843681A>CCA16038891APCc.8141A>C (p.Asp2714Ala)
c.*8093A>C (n.*8093A>C)
c.8033A>C (p.Asp2678Ala)
c.8087A>C (p.Asp2696Ala)
c.231-12968A>C
c.8117A>C (p.Asp2706Ala)
c.8012A>C (p.Asp2671Ala)
c.8003A>C (p.Asp2668Ala)
c.7964A>C (p.Asp2655Ala)
c.7910A>C (p.Asp2637Ala)
c.7814A>C (p.Asp2605Ala)
c.7784A>C (p.Asp2595Ala)
c.7709A>C (p.Asp2570Ala)
c.7607A>C (p.Asp2536Ala)
c.7238A>C (p.Asp2413Ala)
 COSMIC
5g.112843681A>GCA16038892APCc.8141A>G (p.Asp2714Gly)
c.*8093A>G (n.*8093A>G)
c.8033A>G (p.Asp2678Gly)
c.8087A>G (p.Asp2696Gly)
c.231-12968A>G
c.8117A>G (p.Asp2706Gly)
c.8012A>G (p.Asp2671Gly)
c.8003A>G (p.Asp2668Gly)
c.7964A>G (p.Asp2655Gly)
c.7910A>G (p.Asp2637Gly)
c.7814A>G (p.Asp2605Gly)
c.7784A>G (p.Asp2595Gly)
c.7709A>G (p.Asp2570Gly)
c.7607A>G (p.Asp2536Gly)
c.7238A>G (p.Asp2413Gly)
5g.112843681A>TCA16038893APCc.8141A>T (p.Asp2714Val)
c.*8093A>T (n.*8093A>T)
c.8033A>T (p.Asp2678Val)
c.8087A>T (p.Asp2696Val)
c.231-12968A>T
c.8117A>T (p.Asp2706Val)
c.8012A>T (p.Asp2671Val)
c.8003A>T (p.Asp2668Val)
c.7964A>T (p.Asp2655Val)
c.7910A>T (p.Asp2637Val)
c.7814A>T (p.Asp2605Val)
c.7784A>T (p.Asp2595Val)
c.7709A>T (p.Asp2570Val)
c.7607A>T (p.Asp2536Val)
c.7238A>T (p.Asp2413Val)
 ClinVar dbSNP gnomAD v4
5g.112843682T>ACA16038894APCc.8142T>A (p.Asp2714Glu)
c.*8094T>A (n.*8094T>A)
c.8034T>A (p.Asp2678Glu)
c.8088T>A (p.Asp2696Glu)
c.231-12967T>A
c.8118T>A (p.Asp2706Glu)
c.8013T>A (p.Asp2671Glu)
c.8004T>A (p.Asp2668Glu)
c.7965T>A (p.Asp2655Glu)
c.7911T>A (p.Asp2637Glu)
c.7815T>A (p.Asp2605Glu)
c.7785T>A (p.Asp2595Glu)
c.7710T>A (p.Asp2570Glu)
c.7608T>A (p.Asp2536Glu)
c.7239T>A (p.Asp2413Glu)
 ClinVar dbSNP gnomAD v4
5g.112843682T>CCA446211063APCc.8142T>C (p.Asp2714=)
c.*8094T>C (n.*8094T>C)
c.8034T>C (p.Asp2678=)
c.8088T>C (p.Asp2696=)
c.231-12967T>C
c.8118T>C (p.Asp2706=)
c.8013T>C (p.Asp2671=)
c.8004T>C (p.Asp2668=)
c.7965T>C (p.Asp2655=)
c.7911T>C (p.Asp2637=)
c.7815T>C (p.Asp2605=)
c.7785T>C (p.Asp2595=)
c.7710T>C (p.Asp2570=)
c.7608T>C (p.Asp2536=)
c.7239T>C (p.Asp2413=)
 ClinVar dbSNP
5g.112843682T>GCA16038895APCc.8142T>G (p.Asp2714Glu)
c.*8094T>G (n.*8094T>G)
c.8034T>G (p.Asp2678Glu)
c.8088T>G (p.Asp2696Glu)
c.231-12967T>G
c.8118T>G (p.Asp2706Glu)
c.8013T>G (p.Asp2671Glu)
c.8004T>G (p.Asp2668Glu)
c.7965T>G (p.Asp2655Glu)
c.7911T>G (p.Asp2637Glu)
c.7815T>G (p.Asp2605Glu)
c.7785T>G (p.Asp2595Glu)
c.7710T>G (p.Asp2570Glu)
c.7608T>G (p.Asp2536Glu)
c.7239T>G (p.Asp2413Glu)
5g.112843682T=CA1573475891APCc.8142T= (p.Asp2714=)
c.*8094T= (n.*8094T=)
c.8034T= (p.Asp2678=)
c.8088T= (p.Asp2696=)
c.231-12967T=
c.8118T= (p.Asp2706=)
c.8013T= (p.Asp2671=)
c.8004T= (p.Asp2668=)
c.7965T= (p.Asp2655=)
c.7911T= (p.Asp2637=)
c.7815T= (p.Asp2605=)
c.7785T= (p.Asp2595=)
c.7710T= (p.Asp2570=)
c.7608T= (p.Asp2536=)
c.7239T= (p.Asp2413=)
5g.112843683T>ACA16038896APCc.8143T>A (p.Ser2715Thr)
c.*8095T>A (n.*8095T>A)
c.8035T>A (p.Ser2679Thr)
c.8089T>A (p.Ser2697Thr)
c.231-12966T>A
c.8119T>A (p.Ser2707Thr)
c.8014T>A (p.Ser2672Thr)
c.8005T>A (p.Ser2669Thr)
c.7966T>A (p.Ser2656Thr)
c.7912T>A (p.Ser2638Thr)
c.7816T>A (p.Ser2606Thr)
c.7786T>A (p.Ser2596Thr)
c.7711T>A (p.Ser2571Thr)
c.7609T>A (p.Ser2537Thr)
c.7240T>A (p.Ser2414Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112843683T>CCA16038897APCc.8143T>C (p.Ser2715Pro)
c.*8095T>C (n.*8095T>C)
c.8035T>C (p.Ser2679Pro)
c.8089T>C (p.Ser2697Pro)
c.231-12966T>C
c.8119T>C (p.Ser2707Pro)
c.8014T>C (p.Ser2672Pro)
c.8005T>C (p.Ser2669Pro)
c.7966T>C (p.Ser2656Pro)
c.7912T>C (p.Ser2638Pro)
c.7816T>C (p.Ser2606Pro)
c.7786T>C (p.Ser2596Pro)
c.7711T>C (p.Ser2571Pro)
c.7609T>C (p.Ser2537Pro)
c.7240T>C (p.Ser2414Pro)
 ClinVar
5g.112843683T>GCA16038898APCc.8143T>G (p.Ser2715Ala)
c.*8095T>G (n.*8095T>G)
c.8035T>G (p.Ser2679Ala)
c.8089T>G (p.Ser2697Ala)
c.231-12966T>G
c.8119T>G (p.Ser2707Ala)
c.8014T>G (p.Ser2672Ala)
c.8005T>G (p.Ser2669Ala)
c.7966T>G (p.Ser2656Ala)
c.7912T>G (p.Ser2638Ala)
c.7816T>G (p.Ser2606Ala)
c.7786T>G (p.Ser2596Ala)
c.7711T>G (p.Ser2571Ala)
c.7609T>G (p.Ser2537Ala)
c.7240T>G (p.Ser2414Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112843683T=CA1573475897APCc.8143T= (p.Ser2715=)
c.*8095T= (n.*8095T=)
c.8035T= (p.Ser2679=)
c.8089T= (p.Ser2697=)
c.231-12966T=
c.8119T= (p.Ser2707=)
c.8014T= (p.Ser2672=)
c.8005T= (p.Ser2669=)
c.7966T= (p.Ser2656=)
c.7912T= (p.Ser2638=)
c.7816T= (p.Ser2606=)
c.7786T= (p.Ser2596=)
c.7711T= (p.Ser2571=)
c.7609T= (p.Ser2537=)
c.7240T= (p.Ser2414=)
5g.112843684C>ACA16038899APCc.8144C>A (p.Ser2715Ter)
c.*8096C>A (n.*8096C>A)
c.8036C>A (p.Ser2679Ter)
c.8090C>A (p.Ser2697Ter)
c.231-12965C>A
c.8120C>A (p.Ser2707Ter)
c.8015C>A (p.Ser2672Ter)
c.8006C>A (p.Ser2669Ter)
c.7967C>A (p.Ser2656Ter)
c.7913C>A (p.Ser2638Ter)
c.7817C>A (p.Ser2606Ter)
c.7787C>A (p.Ser2596Ter)
c.7712C>A (p.Ser2571Ter)
c.7610C>A (p.Ser2537Ter)
c.7241C>A (p.Ser2414Ter)
 dbSNP
5g.112843684C=CA1573475920APCc.8144C= (p.Ser2715=)
c.*8096C= (n.*8096C=)
c.8036C= (p.Ser2679=)
c.8090C= (p.Ser2697=)
c.231-12965C=
c.8120C= (p.Ser2707=)
c.8015C= (p.Ser2672=)
c.8006C= (p.Ser2669=)
c.7967C= (p.Ser2656=)
c.7913C= (p.Ser2638=)
c.7817C= (p.Ser2606=)
c.7787C= (p.Ser2596=)
c.7712C= (p.Ser2571=)
c.7610C= (p.Ser2537=)
c.7241C= (p.Ser2414=)
5g.112843684C>GCA16038900APCc.8144C>G (p.Ser2715Ter)
c.*8096C>G (n.*8096C>G)
c.8036C>G (p.Ser2679Ter)
c.8090C>G (p.Ser2697Ter)
c.231-12965C>G
c.8120C>G (p.Ser2707Ter)
c.8015C>G (p.Ser2672Ter)
c.8006C>G (p.Ser2669Ter)
c.7967C>G (p.Ser2656Ter)
c.7913C>G (p.Ser2638Ter)
c.7817C>G (p.Ser2606Ter)
c.7787C>G (p.Ser2596Ter)
c.7712C>G (p.Ser2571Ter)
c.7610C>G (p.Ser2537Ter)
c.7241C>G (p.Ser2414Ter)
 ClinVar dbSNP
5g.112843684C>TCA16038901APCc.8144C>T (p.Ser2715Leu)
c.*8096C>T (n.*8096C>T)
c.8036C>T (p.Ser2679Leu)
c.8090C>T (p.Ser2697Leu)
c.231-12965C>T
c.8120C>T (p.Ser2707Leu)
c.8015C>T (p.Ser2672Leu)
c.8006C>T (p.Ser2669Leu)
c.7967C>T (p.Ser2656Leu)
c.7913C>T (p.Ser2638Leu)
c.7817C>T (p.Ser2606Leu)
c.7787C>T (p.Ser2596Leu)
c.7712C>T (p.Ser2571Leu)
c.7610C>T (p.Ser2537Leu)
c.7241C>T (p.Ser2414Leu)
 dbSNP
5g.112843685A>CCA446211064APCc.8145A>C (p.Ser2715=)
c.*8097A>C (n.*8097A>C)
c.8037A>C (p.Ser2679=)
c.8091A>C (p.Ser2697=)
c.231-12964A>C
c.8121A>C (p.Ser2707=)
c.8016A>C (p.Ser2672=)
c.8007A>C (p.Ser2669=)
c.7968A>C (p.Ser2656=)
c.7914A>C (p.Ser2638=)
c.7818A>C (p.Ser2606=)
c.7788A>C (p.Ser2596=)
c.7713A>C (p.Ser2571=)
c.7611A>C (p.Ser2537=)
c.7242A>C (p.Ser2414=)
5g.112843685A>GCA446211065APCc.8145A>G (p.Ser2715=)
c.*8097A>G (n.*8097A>G)
c.8037A>G (p.Ser2679=)
c.8091A>G (p.Ser2697=)
c.231-12964A>G
c.8121A>G (p.Ser2707=)
c.8016A>G (p.Ser2672=)
c.8007A>G (p.Ser2669=)
c.7968A>G (p.Ser2656=)
c.7914A>G (p.Ser2638=)
c.7818A>G (p.Ser2606=)
c.7788A>G (p.Ser2596=)
c.7713A>G (p.Ser2571=)
c.7611A>G (p.Ser2537=)
c.7242A>G (p.Ser2414=)
 ClinVar dbSNP gnomAD v4
5g.112843685A>TCA446211066APCc.8145A>T (p.Ser2715=)
c.*8097A>T (n.*8097A>T)
c.8037A>T (p.Ser2679=)
c.8091A>T (p.Ser2697=)
c.231-12964A>T
c.8121A>T (p.Ser2707=)
c.8016A>T (p.Ser2672=)
c.8007A>T (p.Ser2669=)
c.7968A>T (p.Ser2656=)
c.7914A>T (p.Ser2638=)
c.7818A>T (p.Ser2606=)
c.7788A>T (p.Ser2596=)
c.7713A>T (p.Ser2571=)
c.7611A>T (p.Ser2537=)
c.7242A>T (p.Ser2414=)
5g.112843686A=CA1573475924APCc.8146A= (p.Lys2716=)
c.*8098A= (n.*8098A=)
c.8038A= (p.Lys2680=)
c.8092A= (p.Lys2698=)
c.231-12963A=
c.8122A= (p.Lys2708=)
c.8017A= (p.Lys2673=)
c.8008A= (p.Lys2670=)
c.7969A= (p.Lys2657=)
c.7915A= (p.Lys2639=)
c.7819A= (p.Lys2607=)
c.7789A= (p.Lys2597=)
c.7714A= (p.Lys2572=)
c.7612A= (p.Lys2538=)
c.7243A= (p.Lys2415=)
5g.112843686A>CCA16038902APCc.8146A>C (p.Lys2716Gln)
c.*8098A>C (n.*8098A>C)
c.8038A>C (p.Lys2680Gln)
c.8092A>C (p.Lys2698Gln)
c.231-12963A>C
c.8122A>C (p.Lys2708Gln)
c.8017A>C (p.Lys2673Gln)
c.8008A>C (p.Lys2670Gln)
c.7969A>C (p.Lys2657Gln)
c.7915A>C (p.Lys2639Gln)
c.7819A>C (p.Lys2607Gln)
c.7789A>C (p.Lys2597Gln)
c.7714A>C (p.Lys2572Gln)
c.7612A>C (p.Lys2538Gln)
c.7243A>C (p.Lys2415Gln)
 ClinVar dbSNP
5g.112843686A>GCA16038903APCc.8146A>G (p.Lys2716Glu)
c.*8098A>G (n.*8098A>G)
c.8038A>G (p.Lys2680Glu)
c.8092A>G (p.Lys2698Glu)
c.231-12963A>G
c.8122A>G (p.Lys2708Glu)
c.8017A>G (p.Lys2673Glu)
c.8008A>G (p.Lys2670Glu)
c.7969A>G (p.Lys2657Glu)
c.7915A>G (p.Lys2639Glu)
c.7819A>G (p.Lys2607Glu)
c.7789A>G (p.Lys2597Glu)
c.7714A>G (p.Lys2572Glu)
c.7612A>G (p.Lys2538Glu)
c.7243A>G (p.Lys2415Glu)
 gnomAD v4
5g.112843686A>TCA16038904APCc.8146A>T (p.Lys2716Ter)
c.*8098A>T (n.*8098A>T)
c.8038A>T (p.Lys2680Ter)
c.8092A>T (p.Lys2698Ter)
c.231-12963A>T
c.8122A>T (p.Lys2708Ter)
c.8017A>T (p.Lys2673Ter)
c.8008A>T (p.Lys2670Ter)
c.7969A>T (p.Lys2657Ter)
c.7915A>T (p.Lys2639Ter)
c.7819A>T (p.Lys2607Ter)
c.7789A>T (p.Lys2597Ter)
c.7714A>T (p.Lys2572Ter)
c.7612A>T (p.Lys2538Ter)
c.7243A>T (p.Lys2415Ter)
 dbSNP
5g.112843687A=CA1573475932APCc.8147A= (p.Lys2716=)
c.*8099A= (n.*8099A=)
c.8039A= (p.Lys2680=)
c.8093A= (p.Lys2698=)
c.231-12962A=
c.8123A= (p.Lys2708=)
c.8018A= (p.Lys2673=)
c.8009A= (p.Lys2670=)
c.7970A= (p.Lys2657=)
c.7916A= (p.Lys2639=)
c.7820A= (p.Lys2607=)
c.7790A= (p.Lys2597=)
c.7715A= (p.Lys2572=)
c.7613A= (p.Lys2538=)
c.7244A= (p.Lys2415=)
5g.112843687A>CCA049861APCc.8147A>C (p.Lys2716Thr)
c.*8099A>C (n.*8099A>C)
c.8039A>C (p.Lys2680Thr)
c.8093A>C (p.Lys2698Thr)
c.231-12962A>C
c.8123A>C (p.Lys2708Thr)
c.8018A>C (p.Lys2673Thr)
c.8009A>C (p.Lys2670Thr)
c.7970A>C (p.Lys2657Thr)
c.7916A>C (p.Lys2639Thr)
c.7820A>C (p.Lys2607Thr)
c.7790A>C (p.Lys2597Thr)
c.7715A>C (p.Lys2572Thr)
c.7613A>C (p.Lys2538Thr)
c.7244A>C (p.Lys2415Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843687A>GCA16038905APCc.8147A>G (p.Lys2716Arg)
c.*8099A>G (n.*8099A>G)
c.8039A>G (p.Lys2680Arg)
c.8093A>G (p.Lys2698Arg)
c.231-12962A>G
c.8123A>G (p.Lys2708Arg)
c.8018A>G (p.Lys2673Arg)
c.8009A>G (p.Lys2670Arg)
c.7970A>G (p.Lys2657Arg)
c.7916A>G (p.Lys2639Arg)
c.7820A>G (p.Lys2607Arg)
c.7790A>G (p.Lys2597Arg)
c.7715A>G (p.Lys2572Arg)
c.7613A>G (p.Lys2538Arg)
c.7244A>G (p.Lys2415Arg)
 dbSNP
5g.112843687A>TCA16038906APCc.8147A>T (p.Lys2716Ile)
c.*8099A>T (n.*8099A>T)
c.8039A>T (p.Lys2680Ile)
c.8093A>T (p.Lys2698Ile)
c.231-12962A>T
c.8123A>T (p.Lys2708Ile)
c.8018A>T (p.Lys2673Ile)
c.8009A>T (p.Lys2670Ile)
c.7970A>T (p.Lys2657Ile)
c.7916A>T (p.Lys2639Ile)
c.7820A>T (p.Lys2607Ile)
c.7790A>T (p.Lys2597Ile)
c.7715A>T (p.Lys2572Ile)
c.7613A>T (p.Lys2538Ile)
c.7244A>T (p.Lys2415Ile)
 dbSNP
5g.112843688A>CCA16038907APCc.8148A>C (p.Lys2716Asn)
c.*8100A>C (n.*8100A>C)
c.8040A>C (p.Lys2680Asn)
c.8094A>C (p.Lys2698Asn)
c.231-12961A>C
c.8124A>C (p.Lys2708Asn)
c.8019A>C (p.Lys2673Asn)
c.8010A>C (p.Lys2670Asn)
c.7971A>C (p.Lys2657Asn)
c.7917A>C (p.Lys2639Asn)
c.7821A>C (p.Lys2607Asn)
c.7791A>C (p.Lys2597Asn)
c.7716A>C (p.Lys2572Asn)
c.7614A>C (p.Lys2538Asn)
c.7245A>C (p.Lys2415Asn)
5g.112843688A>GCA446211067APCc.8148A>G (p.Lys2716=)
c.*8100A>G (n.*8100A>G)
c.8040A>G (p.Lys2680=)
c.8094A>G (p.Lys2698=)
c.231-12961A>G
c.8124A>G (p.Lys2708=)
c.8019A>G (p.Lys2673=)
c.8010A>G (p.Lys2670=)
c.7971A>G (p.Lys2657=)
c.7917A>G (p.Lys2639=)
c.7821A>G (p.Lys2607=)
c.7791A>G (p.Lys2597=)
c.7716A>G (p.Lys2572=)
c.7614A>G (p.Lys2538=)
c.7245A>G (p.Lys2415=)
 ClinVar dbSNP
5g.112843688A>TCA16038908APCc.8148A>T (p.Lys2716Asn)
c.*8100A>T (n.*8100A>T)
c.8040A>T (p.Lys2680Asn)
c.8094A>T (p.Lys2698Asn)
c.231-12961A>T
c.8124A>T (p.Lys2708Asn)
c.8019A>T (p.Lys2673Asn)
c.8010A>T (p.Lys2670Asn)
c.7971A>T (p.Lys2657Asn)
c.7917A>T (p.Lys2639Asn)
c.7821A>T (p.Lys2607Asn)
c.7791A>T (p.Lys2597Asn)
c.7716A>T (p.Lys2572Asn)
c.7614A>T (p.Lys2538Asn)
c.7245A>T (p.Lys2415Asn)
 dbSNP
5g.112843689G>ACA16038909APCc.8149G>A (p.Asp2717Asn)
c.*8101G>A (n.*8101G>A)
c.8041G>A (p.Asp2681Asn)
c.8095G>A (p.Asp2699Asn)
c.231-12960G>A
c.8125G>A (p.Asp2709Asn)
c.8020G>A (p.Asp2674Asn)
c.8011G>A (p.Asp2671Asn)
c.7972G>A (p.Asp2658Asn)
c.7918G>A (p.Asp2640Asn)
c.7822G>A (p.Asp2608Asn)
c.7792G>A (p.Asp2598Asn)
c.7717G>A (p.Asp2573Asn)
c.7615G>A (p.Asp2539Asn)
c.7246G>A (p.Asp2416Asn)
 ClinVar dbSNP
5g.112843689G>CCA16038910APCc.8149G>C (p.Asp2717His)
c.*8101G>C (n.*8101G>C)
c.8041G>C (p.Asp2681His)
c.8095G>C (p.Asp2699His)
c.231-12960G>C
c.8125G>C (p.Asp2709His)
c.8020G>C (p.Asp2674His)
c.8011G>C (p.Asp2671His)
c.7972G>C (p.Asp2658His)
c.7918G>C (p.Asp2640His)
c.7822G>C (p.Asp2608His)
c.7792G>C (p.Asp2598His)
c.7717G>C (p.Asp2573His)
c.7615G>C (p.Asp2539His)
c.7246G>C (p.Asp2416His)
 ClinVar dbSNP
5g.112843689G>TCA16038911APCc.8149G>T (p.Asp2717Tyr)
c.*8101G>T (n.*8101G>T)
c.8041G>T (p.Asp2681Tyr)
c.8095G>T (p.Asp2699Tyr)
c.231-12960G>T
c.8125G>T (p.Asp2709Tyr)
c.8020G>T (p.Asp2674Tyr)
c.8011G>T (p.Asp2671Tyr)
c.7972G>T (p.Asp2658Tyr)
c.7918G>T (p.Asp2640Tyr)
c.7822G>T (p.Asp2608Tyr)
c.7792G>T (p.Asp2598Tyr)
c.7717G>T (p.Asp2573Tyr)
c.7615G>T (p.Asp2539Tyr)
c.7246G>T (p.Asp2416Tyr)
 dbSNP
5g.112843690A=CA1573475941APCc.8150A= (p.Asp2717=)
c.*8102A= (n.*8102A=)
c.8042A= (p.Asp2681=)
c.8096A= (p.Asp2699=)
c.231-12959A=
c.8126A= (p.Asp2709=)
c.8021A= (p.Asp2674=)
c.8012A= (p.Asp2671=)
c.7973A= (p.Asp2658=)
c.7919A= (p.Asp2640=)
c.7823A= (p.Asp2608=)
c.7793A= (p.Asp2598=)
c.7718A= (p.Asp2573=)
c.7616A= (p.Asp2539=)
c.7247A= (p.Asp2416=)
5g.112843690A>CCA16038912APCc.8150A>C (p.Asp2717Ala)
c.*8102A>C (n.*8102A>C)
c.8042A>C (p.Asp2681Ala)
c.8096A>C (p.Asp2699Ala)
c.231-12959A>C
c.8126A>C (p.Asp2709Ala)
c.8021A>C (p.Asp2674Ala)
c.8012A>C (p.Asp2671Ala)
c.7973A>C (p.Asp2658Ala)
c.7919A>C (p.Asp2640Ala)
c.7823A>C (p.Asp2608Ala)
c.7793A>C (p.Asp2598Ala)
c.7718A>C (p.Asp2573Ala)
c.7616A>C (p.Asp2539Ala)
c.7247A>C (p.Asp2416Ala)
 dbSNP
5g.112843690A>GCA049869APCc.8150A>G (p.Asp2717Gly)
c.*8102A>G (n.*8102A>G)
c.8042A>G (p.Asp2681Gly)
c.8096A>G (p.Asp2699Gly)
c.231-12959A>G
c.8126A>G (p.Asp2709Gly)
c.8021A>G (p.Asp2674Gly)
c.8012A>G (p.Asp2671Gly)
c.7973A>G (p.Asp2658Gly)
c.7919A>G (p.Asp2640Gly)
c.7823A>G (p.Asp2608Gly)
c.7793A>G (p.Asp2598Gly)
c.7718A>G (p.Asp2573Gly)
c.7616A>G (p.Asp2539Gly)
c.7247A>G (p.Asp2416Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
5g.112843690A>TCA16038913APCc.8150A>T (p.Asp2717Val)
c.*8102A>T (n.*8102A>T)
c.8042A>T (p.Asp2681Val)
c.8096A>T (p.Asp2699Val)
c.231-12959A>T
c.8126A>T (p.Asp2709Val)
c.8021A>T (p.Asp2674Val)
c.8012A>T (p.Asp2671Val)
c.7973A>T (p.Asp2658Val)
c.7919A>T (p.Asp2640Val)
c.7823A>T (p.Asp2608Val)
c.7793A>T (p.Asp2598Val)
c.7718A>T (p.Asp2573Val)
c.7616A>T (p.Asp2539Val)
c.7247A>T (p.Asp2416Val)
 dbSNP
5g.112843691T>ACA16038914APCc.8151T>A (p.Asp2717Glu)
c.*8103T>A (n.*8103T>A)
c.8043T>A (p.Asp2681Glu)
c.8097T>A (p.Asp2699Glu)
c.231-12958T>A
c.8127T>A (p.Asp2709Glu)
c.8022T>A (p.Asp2674Glu)
c.8013T>A (p.Asp2671Glu)
c.7974T>A (p.Asp2658Glu)
c.7920T>A (p.Asp2640Glu)
c.7824T>A (p.Asp2608Glu)
c.7794T>A (p.Asp2598Glu)
c.7719T>A (p.Asp2573Glu)
c.7617T>A (p.Asp2539Glu)
c.7248T>A (p.Asp2416Glu)
5g.112843691T>CCA446211068APCc.8151T>C (p.Asp2717=)
c.*8103T>C (n.*8103T>C)
c.8043T>C (p.Asp2681=)
c.8097T>C (p.Asp2699=)
c.231-12958T>C
c.8127T>C (p.Asp2709=)
c.8022T>C (p.Asp2674=)
c.8013T>C (p.Asp2671=)
c.7974T>C (p.Asp2658=)
c.7920T>C (p.Asp2640=)
c.7824T>C (p.Asp2608=)
c.7794T>C (p.Asp2598=)
c.7719T>C (p.Asp2573=)
c.7617T>C (p.Asp2539=)
c.7248T>C (p.Asp2416=)
5g.112843691T>GCA16038915APCc.8151T>G (p.Asp2717Glu)
c.*8103T>G (n.*8103T>G)
c.8043T>G (p.Asp2681Glu)
c.8097T>G (p.Asp2699Glu)
c.231-12958T>G
c.8127T>G (p.Asp2709Glu)
c.8022T>G (p.Asp2674Glu)
c.8013T>G (p.Asp2671Glu)
c.7974T>G (p.Asp2658Glu)
c.7920T>G (p.Asp2640Glu)
c.7824T>G (p.Asp2608Glu)
c.7794T>G (p.Asp2598Glu)
c.7719T>G (p.Asp2573Glu)
c.7617T>G (p.Asp2539Glu)
c.7248T>G (p.Asp2416Glu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112843691T=CA1573475950APCc.8151T= (p.Asp2717=)
c.*8103T= (n.*8103T=)
c.8043T= (p.Asp2681=)
c.8097T= (p.Asp2699=)
c.231-12958T=
c.8127T= (p.Asp2709=)
c.8022T= (p.Asp2674=)
c.8013T= (p.Asp2671=)
c.7974T= (p.Asp2658=)
c.7920T= (p.Asp2640=)
c.7824T= (p.Asp2608=)
c.7794T= (p.Asp2598=)
c.7719T= (p.Asp2573=)
c.7617T= (p.Asp2539=)
c.7248T= (p.Asp2416=)
5g.112843691_112843695delinsTAATCCA1573475977APCc.8151_8155delinsTAATC (p.Asp2717=)
c.*8103_*8107delinsTAATC (n.*8103_*8107delinsTAATC)
c.8043_8047delinsTAATC (p.Asp2681=)
c.8097_8101delinsTAATC (p.Asp2699=)
c.231-12958_231-12954delinsTAATC
c.8127_8131delinsTAATC (p.Asp2709=)
c.8022_8026delinsTAATC (p.Asp2674=)
c.8013_8017delinsTAATC (p.Asp2671=)
c.7974_7978delinsTAATC (p.Asp2658=)
c.7920_7924delinsTAATC (p.Asp2640=)
c.7824_7828delinsTAATC (p.Asp2608=)
c.7794_7798delinsTAATC (p.Asp2598=)
c.7719_7723delinsTAATC (p.Asp2573=)
c.7617_7621delinsTAATC (p.Asp2539=)
c.7248_7252delinsTAATC (p.Asp2416=)
5g.112843692A=CA1573475992APCc.8152A= (p.Asn2718=)
c.*8104A= (n.*8104A=)
c.8044A= (p.Asn2682=)
c.8098A= (p.Asn2700=)
c.231-12957A=
c.8128A= (p.Asn2710=)
c.8023A= (p.Asn2675=)
c.8014A= (p.Asn2672=)
c.7975A= (p.Asn2659=)
c.7921A= (p.Asn2641=)
c.7825A= (p.Asn2609=)
c.7795A= (p.Asn2599=)
c.7720A= (p.Asn2574=)
c.7618A= (p.Asn2540=)
c.7249A= (p.Asn2417=)
5g.112843692A>CCA16038916APCc.8152A>C (p.Asn2718His)
c.*8104A>C (n.*8104A>C)
c.8044A>C (p.Asn2682His)
c.8098A>C (p.Asn2700His)
c.231-12957A>C
c.8128A>C (p.Asn2710His)
c.8023A>C (p.Asn2675His)
c.8014A>C (p.Asn2672His)
c.7975A>C (p.Asn2659His)
c.7921A>C (p.Asn2641His)
c.7825A>C (p.Asn2609His)
c.7795A>C (p.Asn2599His)
c.7720A>C (p.Asn2574His)
c.7618A>C (p.Asn2540His)
c.7249A>C (p.Asn2417His)
5g.112843692A>GCA16038917APCc.8152A>G (p.Asn2718Asp)
c.*8104A>G (n.*8104A>G)
c.8044A>G (p.Asn2682Asp)
c.8098A>G (p.Asn2700Asp)
c.231-12957A>G
c.8128A>G (p.Asn2710Asp)
c.8023A>G (p.Asn2675Asp)
c.8014A>G (p.Asn2672Asp)
c.7975A>G (p.Asn2659Asp)
c.7921A>G (p.Asn2641Asp)
c.7825A>G (p.Asn2609Asp)
c.7795A>G (p.Asn2599Asp)
c.7720A>G (p.Asn2574Asp)
c.7618A>G (p.Asn2540Asp)
c.7249A>G (p.Asn2417Asp)
 ClinVar dbSNP
5g.112843692A>TCA16038918APCc.8152A>T (p.Asn2718Tyr)
c.*8104A>T (n.*8104A>T)
c.8044A>T (p.Asn2682Tyr)
c.8098A>T (p.Asn2700Tyr)
c.231-12957A>T
c.8128A>T (p.Asn2710Tyr)
c.8023A>T (p.Asn2675Tyr)
c.8014A>T (p.Asn2672Tyr)
c.7975A>T (p.Asn2659Tyr)
c.7921A>T (p.Asn2641Tyr)
c.7825A>T (p.Asn2609Tyr)
c.7795A>T (p.Asn2599Tyr)
c.7720A>T (p.Asn2574Tyr)
c.7618A>T (p.Asn2540Tyr)
c.7249A>T (p.Asn2417Tyr)
 ClinVar dbSNP
5g.112843693_112843696delCA915943527APCc.8153_8156del (p.Asn2718ArgfsTer22)
c.*8105_*8108del (n.*8105_*8108del)
c.8045_8048del (p.Asn2682ArgfsTer22)
c.8099_8102del (p.Asn2700ArgfsTer22)
c.231-12956_231-12953del
c.8129_8132del (p.Asn2710ArgfsTer22)
c.8024_8027del (p.Asn2675ArgfsTer22)
c.8015_8018del (p.Asn2672ArgfsTer22)
c.7976_7979del (p.Asn2659ArgfsTer22)
c.7922_7925del (p.Asn2641ArgfsTer22)
c.7826_7829del (p.Asn2609ArgfsTer22)
c.7796_7799del (p.Asn2599ArgfsTer22)
c.7721_7724del (p.Asn2574ArgfsTer22)
c.7619_7622del (p.Asn2540ArgfsTer22)
c.7250_7253del (p.Asn2417ArgfsTer22)
 ClinVar dbSNP
5g.112843693A>CCA16038919APCc.8153A>C (p.Asn2718Thr)
c.*8105A>C (n.*8105A>C)
c.8045A>C (p.Asn2682Thr)
c.8099A>C (p.Asn2700Thr)
c.231-12956A>C
c.8129A>C (p.Asn2710Thr)
c.8024A>C (p.Asn2675Thr)
c.8015A>C (p.Asn2672Thr)
c.7976A>C (p.Asn2659Thr)
c.7922A>C (p.Asn2641Thr)
c.7826A>C (p.Asn2609Thr)
c.7796A>C (p.Asn2599Thr)
c.7721A>C (p.Asn2574Thr)
c.7619A>C (p.Asn2540Thr)
c.7250A>C (p.Asn2417Thr)
5g.112843693A>GCA16038920APCc.8153A>G (p.Asn2718Ser)
c.*8105A>G (n.*8105A>G)
c.8045A>G (p.Asn2682Ser)
c.8099A>G (p.Asn2700Ser)
c.231-12956A>G
c.8129A>G (p.Asn2710Ser)
c.8024A>G (p.Asn2675Ser)
c.8015A>G (p.Asn2672Ser)
c.7976A>G (p.Asn2659Ser)
c.7922A>G (p.Asn2641Ser)
c.7826A>G (p.Asn2609Ser)
c.7796A>G (p.Asn2599Ser)
c.7721A>G (p.Asn2574Ser)
c.7619A>G (p.Asn2540Ser)
c.7250A>G (p.Asn2417Ser)
 ClinVar
5g.112843693A>TCA16038921APCc.8153A>T (p.Asn2718Ile)
c.*8105A>T (n.*8105A>T)
c.8045A>T (p.Asn2682Ile)
c.8099A>T (p.Asn2700Ile)
c.231-12956A>T
c.8129A>T (p.Asn2710Ile)
c.8024A>T (p.Asn2675Ile)
c.8015A>T (p.Asn2672Ile)
c.7976A>T (p.Asn2659Ile)
c.7922A>T (p.Asn2641Ile)
c.7826A>T (p.Asn2609Ile)
c.7796A>T (p.Asn2599Ile)
c.7721A>T (p.Asn2574Ile)
c.7619A>T (p.Asn2540Ile)
c.7250A>T (p.Asn2417Ile)
 dbSNP
5g.112843694T>ACA16038922APCc.8154T>A (p.Asn2718Lys)
c.*8106T>A (n.*8106T>A)
c.8046T>A (p.Asn2682Lys)
c.8100T>A (p.Asn2700Lys)
c.231-12955T>A
c.8130T>A (p.Asn2710Lys)
c.8025T>A (p.Asn2675Lys)
c.8016T>A (p.Asn2672Lys)
c.7977T>A (p.Asn2659Lys)
c.7923T>A (p.Asn2641Lys)
c.7827T>A (p.Asn2609Lys)
c.7797T>A (p.Asn2599Lys)
c.7722T>A (p.Asn2574Lys)
c.7620T>A (p.Asn2540Lys)
c.7251T>A (p.Asn2417Lys)
 dbSNP gnomAD v4
5g.112843694T>CCA014315APCc.8154T>C (p.Asn2718=)
c.*8106T>C (n.*8106T>C)
c.8046T>C (p.Asn2682=)
c.8100T>C (p.Asn2700=)
c.231-12955T>C
c.8130T>C (p.Asn2710=)
c.8025T>C (p.Asn2675=)
c.8016T>C (p.Asn2672=)
c.7977T>C (p.Asn2659=)
c.7923T>C (p.Asn2641=)
c.7827T>C (p.Asn2609=)
c.7797T>C (p.Asn2599=)
c.7722T>C (p.Asn2574=)
c.7620T>C (p.Asn2540=)
c.7251T>C (p.Asn2417=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843694T>GCA16038923APCc.8154T>G (p.Asn2718Lys)
c.*8106T>G (n.*8106T>G)
c.8046T>G (p.Asn2682Lys)
c.8100T>G (p.Asn2700Lys)
c.231-12955T>G
c.8130T>G (p.Asn2710Lys)
c.8025T>G (p.Asn2675Lys)
c.8016T>G (p.Asn2672Lys)
c.7977T>G (p.Asn2659Lys)
c.7923T>G (p.Asn2641Lys)
c.7827T>G (p.Asn2609Lys)
c.7797T>G (p.Asn2599Lys)
c.7722T>G (p.Asn2574Lys)
c.7620T>G (p.Asn2540Lys)
c.7251T>G (p.Asn2417Lys)
 dbSNP
5g.112843694T=CA1573476002APCc.8154T= (p.Asn2718=)
c.*8106T= (n.*8106T=)
c.8046T= (p.Asn2682=)
c.8100T= (p.Asn2700=)
c.231-12955T=
c.8130T= (p.Asn2710=)
c.8025T= (p.Asn2675=)
c.8016T= (p.Asn2672=)
c.7977T= (p.Asn2659=)
c.7923T= (p.Asn2641=)
c.7827T= (p.Asn2609=)
c.7797T= (p.Asn2599=)
c.7722T= (p.Asn2574=)
c.7620T= (p.Asn2540=)
c.7251T= (p.Asn2417=)
5g.112843695C>ACA16038924APCc.8155C>A (p.Gln2719Lys)
c.*8107C>A (n.*8107C>A)
c.8047C>A (p.Gln2683Lys)
c.8101C>A (p.Gln2701Lys)
c.231-12954C>A
c.8131C>A (p.Gln2711Lys)
c.8026C>A (p.Gln2676Lys)
c.8017C>A (p.Gln2673Lys)
c.7978C>A (p.Gln2660Lys)
c.7924C>A (p.Gln2642Lys)
c.7828C>A (p.Gln2610Lys)
c.7798C>A (p.Gln2600Lys)
c.7723C>A (p.Gln2575Lys)
c.7621C>A (p.Gln2541Lys)
c.7252C>A (p.Gln2418Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112843695C=CA1573476010APCc.8155C= (p.Gln2719=)
c.*8107C= (n.*8107C=)
c.8047C= (p.Gln2683=)
c.8101C= (p.Gln2701=)
c.231-12954C=
c.8131C= (p.Gln2711=)
c.8026C= (p.Gln2676=)
c.8017C= (p.Gln2673=)
c.7978C= (p.Gln2660=)
c.7924C= (p.Gln2642=)
c.7828C= (p.Gln2610=)
c.7798C= (p.Gln2600=)
c.7723C= (p.Gln2575=)
c.7621C= (p.Gln2541=)
c.7252C= (p.Gln2418=)
5g.112843695C>GCA16038925APCc.8155C>G (p.Gln2719Glu)
c.*8107C>G (n.*8107C>G)
c.8047C>G (p.Gln2683Glu)
c.8101C>G (p.Gln2701Glu)
c.231-12954C>G
c.8131C>G (p.Gln2711Glu)
c.8026C>G (p.Gln2676Glu)
c.8017C>G (p.Gln2673Glu)
c.7978C>G (p.Gln2660Glu)
c.7924C>G (p.Gln2642Glu)
c.7828C>G (p.Gln2610Glu)
c.7798C>G (p.Gln2600Glu)
c.7723C>G (p.Gln2575Glu)
c.7621C>G (p.Gln2541Glu)
c.7252C>G (p.Gln2418Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112843695C>TCA16038926APCc.8155C>T (p.Gln2719Ter)
c.*8107C>T (n.*8107C>T)
c.8047C>T (p.Gln2683Ter)
c.8101C>T (p.Gln2701Ter)
c.231-12954C>T
c.8131C>T (p.Gln2711Ter)
c.8026C>T (p.Gln2676Ter)
c.8017C>T (p.Gln2673Ter)
c.7978C>T (p.Gln2660Ter)
c.7924C>T (p.Gln2642Ter)
c.7828C>T (p.Gln2610Ter)
c.7798C>T (p.Gln2600Ter)
c.7723C>T (p.Gln2575Ter)
c.7621C>T (p.Gln2541Ter)
c.7252C>T (p.Gln2418Ter)
 dbSNP
5g.112843696A=CA1573476017APCc.8156A= (p.Gln2719=)
c.*8108A= (n.*8108A=)
c.8048A= (p.Gln2683=)
c.8102A= (p.Gln2701=)
c.231-12953A=
c.8132A= (p.Gln2711=)
c.8027A= (p.Gln2676=)
c.8018A= (p.Gln2673=)
c.7979A= (p.Gln2660=)
c.7925A= (p.Gln2642=)
c.7829A= (p.Gln2610=)
c.7799A= (p.Gln2600=)
c.7724A= (p.Gln2575=)
c.7622A= (p.Gln2541=)
c.7253A= (p.Gln2418=)
5g.112843696A>CCA16038927APCc.8156A>C (p.Gln2719Pro)
c.*8108A>C (n.*8108A>C)
c.8048A>C (p.Gln2683Pro)
c.8102A>C (p.Gln2701Pro)
c.231-12953A>C
c.8132A>C (p.Gln2711Pro)
c.8027A>C (p.Gln2676Pro)
c.8018A>C (p.Gln2673Pro)
c.7979A>C (p.Gln2660Pro)
c.7925A>C (p.Gln2642Pro)
c.7829A>C (p.Gln2610Pro)
c.7799A>C (p.Gln2600Pro)
c.7724A>C (p.Gln2575Pro)
c.7622A>C (p.Gln2541Pro)
c.7253A>C (p.Gln2418Pro)
5g.112843696A>GCA16038928APCc.8156A>G (p.Gln2719Arg)
c.*8108A>G (n.*8108A>G)
c.8048A>G (p.Gln2683Arg)
c.8102A>G (p.Gln2701Arg)
c.231-12953A>G
c.8132A>G (p.Gln2711Arg)
c.8027A>G (p.Gln2676Arg)
c.8018A>G (p.Gln2673Arg)
c.7979A>G (p.Gln2660Arg)
c.7925A>G (p.Gln2642Arg)
c.7829A>G (p.Gln2610Arg)
c.7799A>G (p.Gln2600Arg)
c.7724A>G (p.Gln2575Arg)
c.7622A>G (p.Gln2541Arg)
c.7253A>G (p.Gln2418Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112843696A>TCA16038929APCc.8156A>T (p.Gln2719Leu)
c.*8108A>T (n.*8108A>T)
c.8048A>T (p.Gln2683Leu)
c.8102A>T (p.Gln2701Leu)
c.231-12953A>T
c.8132A>T (p.Gln2711Leu)
c.8027A>T (p.Gln2676Leu)
c.8018A>T (p.Gln2673Leu)
c.7979A>T (p.Gln2660Leu)
c.7925A>T (p.Gln2642Leu)
c.7829A>T (p.Gln2610Leu)
c.7799A>T (p.Gln2600Leu)
c.7724A>T (p.Gln2575Leu)
c.7622A>T (p.Gln2541Leu)
c.7253A>T (p.Gln2418Leu)
5g.112843697G>ACA446211149APCc.8157G>A (p.Gln2719=)
c.*8109G>A (n.*8109G>A)
c.8049G>A (p.Gln2683=)
c.8103G>A (p.Gln2701=)
c.231-12952G>A
c.8133G>A (p.Gln2711=)
c.8028G>A (p.Gln2676=)
c.8019G>A (p.Gln2673=)
c.7980G>A (p.Gln2660=)
c.7926G>A (p.Gln2642=)
c.7830G>A (p.Gln2610=)
c.7800G>A (p.Gln2600=)
c.7725G>A (p.Gln2575=)
c.7623G>A (p.Gln2541=)
c.7254G>A (p.Gln2418=)
 dbSNP
5g.112843697G>CCA16038930APCc.8157G>C (p.Gln2719His)
c.*8109G>C (n.*8109G>C)
c.8049G>C (p.Gln2683His)
c.8103G>C (p.Gln2701His)
c.231-12952G>C
c.8133G>C (p.Gln2711His)
c.8028G>C (p.Gln2676His)
c.8019G>C (p.Gln2673His)
c.7980G>C (p.Gln2660His)
c.7926G>C (p.Gln2642His)
c.7830G>C (p.Gln2610His)
c.7800G>C (p.Gln2600His)
c.7725G>C (p.Gln2575His)
c.7623G>C (p.Gln2541His)
c.7254G>C (p.Gln2418His)
 dbSNP
5g.112843697G>TCA16038931APCc.8157G>T (p.Gln2719His)
c.*8109G>T (n.*8109G>T)
c.8049G>T (p.Gln2683His)
c.8103G>T (p.Gln2701His)
c.231-12952G>T
c.8133G>T (p.Gln2711His)
c.8028G>T (p.Gln2676His)
c.8019G>T (p.Gln2673His)
c.7980G>T (p.Gln2660His)
c.7926G>T (p.Gln2642His)
c.7830G>T (p.Gln2610His)
c.7800G>T (p.Gln2600His)
c.7725G>T (p.Gln2575His)
c.7623G>T (p.Gln2541His)
c.7254G>T (p.Gln2418His)
 dbSNP
5g.112843698G>ACA014325APCc.8158G>A (p.Ala2720Thr)
c.*8110G>A (n.*8110G>A)
c.8050G>A (p.Ala2684Thr)
c.8104G>A (p.Ala2702Thr)
c.231-12951G>A
c.8134G>A (p.Ala2712Thr)
c.8029G>A (p.Ala2677Thr)
c.8020G>A (p.Ala2674Thr)
c.7981G>A (p.Ala2661Thr)
c.7927G>A (p.Ala2643Thr)
c.7831G>A (p.Ala2611Thr)
c.7801G>A (p.Ala2601Thr)
c.7726G>A (p.Ala2576Thr)
c.7624G>A (p.Ala2542Thr)
c.7255G>A (p.Ala2419Thr)
 ClinVar dbSNP gnomAD v4
5g.112843698G>CCA16038932APCc.8158G>C (p.Ala2720Pro)
c.*8110G>C (n.*8110G>C)
c.8050G>C (p.Ala2684Pro)
c.8104G>C (p.Ala2702Pro)
c.231-12951G>C
c.8134G>C (p.Ala2712Pro)
c.8029G>C (p.Ala2677Pro)
c.8020G>C (p.Ala2674Pro)
c.7981G>C (p.Ala2661Pro)
c.7927G>C (p.Ala2643Pro)
c.7831G>C (p.Ala2611Pro)
c.7801G>C (p.Ala2601Pro)
c.7726G>C (p.Ala2576Pro)
c.7624G>C (p.Ala2542Pro)
c.7255G>C (p.Ala2419Pro)
 dbSNP
5g.112843698G=CA1573476026APCc.8158G= (p.Ala2720=)
c.*8110G= (n.*8110G=)
c.8050G= (p.Ala2684=)
c.8104G= (p.Ala2702=)
c.231-12951G=
c.8134G= (p.Ala2712=)
c.8029G= (p.Ala2677=)
c.8020G= (p.Ala2674=)
c.7981G= (p.Ala2661=)
c.7927G= (p.Ala2643=)
c.7831G= (p.Ala2611=)
c.7801G= (p.Ala2601=)
c.7726G= (p.Ala2576=)
c.7624G= (p.Ala2542=)
c.7255G= (p.Ala2419=)
5g.112843698G>TCA16038933APCc.8158G>T (p.Ala2720Ser)
c.*8110G>T (n.*8110G>T)
c.8050G>T (p.Ala2684Ser)
c.8104G>T (p.Ala2702Ser)
c.231-12951G>T
c.8134G>T (p.Ala2712Ser)
c.8029G>T (p.Ala2677Ser)
c.8020G>T (p.Ala2674Ser)
c.7981G>T (p.Ala2661Ser)
c.7927G>T (p.Ala2643Ser)
c.7831G>T (p.Ala2611Ser)
c.7801G>T (p.Ala2601Ser)
c.7726G>T (p.Ala2576Ser)
c.7624G>T (p.Ala2542Ser)
c.7255G>T (p.Ala2419Ser)
 dbSNP
5g.112843699C>ACA16038934APCc.8159C>A (p.Ala2720Glu)
c.*8111C>A (n.*8111C>A)
c.8051C>A (p.Ala2684Glu)
c.8105C>A (p.Ala2702Glu)
c.231-12950C>A
c.8135C>A (p.Ala2712Glu)
c.8030C>A (p.Ala2677Glu)
c.8021C>A (p.Ala2674Glu)
c.7982C>A (p.Ala2661Glu)
c.7928C>A (p.Ala2643Glu)
c.7832C>A (p.Ala2611Glu)
c.7802C>A (p.Ala2601Glu)
c.7727C>A (p.Ala2576Glu)
c.7625C>A (p.Ala2542Glu)
c.7256C>A (p.Ala2419Glu)
5g.112843699C=CA1573476035APCc.8159C= (p.Ala2720=)
c.*8111C= (n.*8111C=)
c.8051C= (p.Ala2684=)
c.8105C= (p.Ala2702=)
c.231-12950C=
c.8135C= (p.Ala2712=)
c.8030C= (p.Ala2677=)
c.8021C= (p.Ala2674=)
c.7982C= (p.Ala2661=)
c.7928C= (p.Ala2643=)
c.7832C= (p.Ala2611=)
c.7802C= (p.Ala2601=)
c.7727C= (p.Ala2576=)
c.7625C= (p.Ala2542=)
c.7256C= (p.Ala2419=)
5g.112843699C>GCA16038935APCc.8159C>G (p.Ala2720Gly)
c.*8111C>G (n.*8111C>G)
c.8051C>G (p.Ala2684Gly)
c.8105C>G (p.Ala2702Gly)
c.231-12950C>G
c.8135C>G (p.Ala2712Gly)
c.8030C>G (p.Ala2677Gly)
c.8021C>G (p.Ala2674Gly)
c.7982C>G (p.Ala2661Gly)
c.7928C>G (p.Ala2643Gly)
c.7832C>G (p.Ala2611Gly)
c.7802C>G (p.Ala2601Gly)
c.7727C>G (p.Ala2576Gly)
c.7625C>G (p.Ala2542Gly)
c.7256C>G (p.Ala2419Gly)
 ClinVar dbSNP
5g.112843699C>TCA16038936APCc.8159C>T (p.Ala2720Val)
c.*8111C>T (n.*8111C>T)
c.8051C>T (p.Ala2684Val)
c.8105C>T (p.Ala2702Val)
c.231-12950C>T
c.8135C>T (p.Ala2712Val)
c.8030C>T (p.Ala2677Val)
c.8021C>T (p.Ala2674Val)
c.7982C>T (p.Ala2661Val)
c.7928C>T (p.Ala2643Val)
c.7832C>T (p.Ala2611Val)
c.7802C>T (p.Ala2601Val)
c.7727C>T (p.Ala2576Val)
c.7625C>T (p.Ala2542Val)
c.7256C>T (p.Ala2419Val)
 ClinVar dbSNP COSMIC
5g.112843700A=CA1573476040APCc.8160A= (p.Ala2720=)
c.*8112A= (n.*8112A=)
c.8052A= (p.Ala2684=)
c.8106A= (p.Ala2702=)
c.231-12949A=
c.8136A= (p.Ala2712=)
c.8031A= (p.Ala2677=)
c.8022A= (p.Ala2674=)
c.7983A= (p.Ala2661=)
c.7929A= (p.Ala2643=)
c.7833A= (p.Ala2611=)
c.7803A= (p.Ala2601=)
c.7728A= (p.Ala2576=)
c.7626A= (p.Ala2542=)
c.7257A= (p.Ala2419=)
5g.112843700A>CCA446211155APCc.8160A>C (p.Ala2720=)
c.*8112A>C (n.*8112A>C)
c.8052A>C (p.Ala2684=)
c.8106A>C (p.Ala2702=)
c.231-12949A>C
c.8136A>C (p.Ala2712=)
c.8031A>C (p.Ala2677=)
c.8022A>C (p.Ala2674=)
c.7983A>C (p.Ala2661=)
c.7929A>C (p.Ala2643=)
c.7833A>C (p.Ala2611=)
c.7803A>C (p.Ala2601=)
c.7728A>C (p.Ala2576=)
c.7626A>C (p.Ala2542=)
c.7257A>C (p.Ala2419=)
5g.112843700A>GCA446211156APCc.8160A>G (p.Ala2720=)
c.*8112A>G (n.*8112A>G)
c.8052A>G (p.Ala2684=)
c.8106A>G (p.Ala2702=)
c.231-12949A>G
c.8136A>G (p.Ala2712=)
c.8031A>G (p.Ala2677=)
c.8022A>G (p.Ala2674=)
c.7983A>G (p.Ala2661=)
c.7929A>G (p.Ala2643=)
c.7833A>G (p.Ala2611=)
c.7803A>G (p.Ala2601=)
c.7728A>G (p.Ala2576=)
c.7626A>G (p.Ala2542=)
c.7257A>G (p.Ala2419=)
 ClinVar dbSNP gnomAD v4
5g.112843700A>TCA446211157APCc.8160A>T (p.Ala2720=)
c.*8112A>T (n.*8112A>T)
c.8052A>T (p.Ala2684=)
c.8106A>T (p.Ala2702=)
c.231-12949A>T
c.8136A>T (p.Ala2712=)
c.8031A>T (p.Ala2677=)
c.8022A>T (p.Ala2674=)
c.7983A>T (p.Ala2661=)
c.7929A>T (p.Ala2643=)
c.7833A>T (p.Ala2611=)
c.7803A>T (p.Ala2601=)
c.7728A>T (p.Ala2576=)
c.7626A>T (p.Ala2542=)
c.7257A>T (p.Ala2419=)
 ClinVar dbSNP gnomAD v4
5g.112843701A=CA1573476061APCc.8161A= (p.Lys2721=)
c.*8113A= (n.*8113A=)
c.8053A= (p.Lys2685=)
c.8107A= (p.Lys2703=)
c.231-12948A=
c.8137A= (p.Lys2713=)
c.8032A= (p.Lys2678=)
c.8023A= (p.Lys2675=)
c.7984A= (p.Lys2662=)
c.7930A= (p.Lys2644=)
c.7834A= (p.Lys2612=)
c.7804A= (p.Lys2602=)
c.7729A= (p.Lys2577=)
c.7627A= (p.Lys2543=)
c.7258A= (p.Lys2420=)
5g.112843701A>CCA16038937APCc.8161A>C (p.Lys2721Gln)
c.*8113A>C (n.*8113A>C)
c.8053A>C (p.Lys2685Gln)
c.8107A>C (p.Lys2703Gln)
c.231-12948A>C
c.8137A>C (p.Lys2713Gln)
c.8032A>C (p.Lys2678Gln)
c.8023A>C (p.Lys2675Gln)
c.7984A>C (p.Lys2662Gln)
c.7930A>C (p.Lys2644Gln)
c.7834A>C (p.Lys2612Gln)
c.7804A>C (p.Lys2602Gln)
c.7729A>C (p.Lys2577Gln)
c.7627A>C (p.Lys2543Gln)
c.7258A>C (p.Lys2420Gln)
5g.112843701A>GCA014335APCc.8161A>G (p.Lys2721Glu)
c.*8113A>G (n.*8113A>G)
c.8053A>G (p.Lys2685Glu)
c.8107A>G (p.Lys2703Glu)
c.231-12948A>G
c.8137A>G (p.Lys2713Glu)
c.8032A>G (p.Lys2678Glu)
c.8023A>G (p.Lys2675Glu)
c.7984A>G (p.Lys2662Glu)
c.7930A>G (p.Lys2644Glu)
c.7834A>G (p.Lys2612Glu)
c.7804A>G (p.Lys2602Glu)
c.7729A>G (p.Lys2577Glu)
c.7627A>G (p.Lys2543Glu)
c.7258A>G (p.Lys2420Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843701A>TCA16038938APCc.8161A>T (p.Lys2721Ter)
c.*8113A>T (n.*8113A>T)
c.8053A>T (p.Lys2685Ter)
c.8107A>T (p.Lys2703Ter)
c.231-12948A>T
c.8137A>T (p.Lys2713Ter)
c.8032A>T (p.Lys2678Ter)
c.8023A>T (p.Lys2675Ter)
c.7984A>T (p.Lys2662Ter)
c.7930A>T (p.Lys2644Ter)
c.7834A>T (p.Lys2612Ter)
c.7804A>T (p.Lys2602Ter)
c.7729A>T (p.Lys2577Ter)
c.7627A>T (p.Lys2543Ter)
c.7258A>T (p.Lys2420Ter)
 dbSNP
5g.112843702A=CA1573476070APCc.8162A= (p.Lys2721=)
c.*8114A= (n.*8114A=)
c.8054A= (p.Lys2685=)
c.8108A= (p.Lys2703=)
c.231-12947A=
c.8138A= (p.Lys2713=)
c.8033A= (p.Lys2678=)
c.8024A= (p.Lys2675=)
c.7985A= (p.Lys2662=)
c.7931A= (p.Lys2644=)
c.7835A= (p.Lys2612=)
c.7805A= (p.Lys2602=)
c.7730A= (p.Lys2577=)
c.7628A= (p.Lys2543=)
c.7259A= (p.Lys2420=)
5g.112843702A>CCA16038939APCc.8162A>C (p.Lys2721Thr)
c.*8114A>C (n.*8114A>C)
c.8054A>C (p.Lys2685Thr)
c.8108A>C (p.Lys2703Thr)
c.231-12947A>C
c.8138A>C (p.Lys2713Thr)
c.8033A>C (p.Lys2678Thr)
c.8024A>C (p.Lys2675Thr)
c.7985A>C (p.Lys2662Thr)
c.7931A>C (p.Lys2644Thr)
c.7835A>C (p.Lys2612Thr)
c.7805A>C (p.Lys2602Thr)
c.7730A>C (p.Lys2577Thr)
c.7628A>C (p.Lys2543Thr)
c.7259A>C (p.Lys2420Thr)
5g.112843702A>GCA16038940APCc.8162A>G (p.Lys2721Arg)
c.*8114A>G (n.*8114A>G)
c.8054A>G (p.Lys2685Arg)
c.8108A>G (p.Lys2703Arg)
c.231-12947A>G
c.8138A>G (p.Lys2713Arg)
c.8033A>G (p.Lys2678Arg)
c.8024A>G (p.Lys2675Arg)
c.7985A>G (p.Lys2662Arg)
c.7931A>G (p.Lys2644Arg)
c.7835A>G (p.Lys2612Arg)
c.7805A>G (p.Lys2602Arg)
c.7730A>G (p.Lys2577Arg)
c.7628A>G (p.Lys2543Arg)
c.7259A>G (p.Lys2420Arg)
 dbSNP
5g.112843702A>TCA16038941APCc.8162A>T (p.Lys2721Ile)
c.*8114A>T (n.*8114A>T)
c.8054A>T (p.Lys2685Ile)
c.8108A>T (p.Lys2703Ile)
c.231-12947A>T
c.8138A>T (p.Lys2713Ile)
c.8033A>T (p.Lys2678Ile)
c.8024A>T (p.Lys2675Ile)
c.7985A>T (p.Lys2662Ile)
c.7931A>T (p.Lys2644Ile)
c.7835A>T (p.Lys2612Ile)
c.7805A>T (p.Lys2602Ile)
c.7730A>T (p.Lys2577Ile)
c.7628A>T (p.Lys2543Ile)
c.7259A>T (p.Lys2420Ile)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112843703A>CCA16038942APCc.8163A>C (p.Lys2721Asn)
c.*8115A>C (n.*8115A>C)
c.8055A>C (p.Lys2685Asn)
c.8109A>C (p.Lys2703Asn)
c.231-12946A>C
c.8139A>C (p.Lys2713Asn)
c.8034A>C (p.Lys2678Asn)
c.8025A>C (p.Lys2675Asn)
c.7986A>C (p.Lys2662Asn)
c.7932A>C (p.Lys2644Asn)
c.7836A>C (p.Lys2612Asn)
c.7806A>C (p.Lys2602Asn)
c.7731A>C (p.Lys2577Asn)
c.7629A>C (p.Lys2543Asn)
c.7260A>C (p.Lys2420Asn)
 dbSNP
5g.112843703A>GCA446211162APCc.8163A>G (p.Lys2721=)
c.*8115A>G (n.*8115A>G)
c.8055A>G (p.Lys2685=)
c.8109A>G (p.Lys2703=)
c.231-12946A>G
c.8139A>G (p.Lys2713=)
c.8034A>G (p.Lys2678=)
c.8025A>G (p.Lys2675=)
c.7986A>G (p.Lys2662=)
c.7932A>G (p.Lys2644=)
c.7836A>G (p.Lys2612=)
c.7806A>G (p.Lys2602=)
c.7731A>G (p.Lys2577=)
c.7629A>G (p.Lys2543=)
c.7260A>G (p.Lys2420=)
 dbSNP
5g.112843703A>TCA16038943APCc.8163A>T (p.Lys2721Asn)
c.*8115A>T (n.*8115A>T)
c.8055A>T (p.Lys2685Asn)
c.8109A>T (p.Lys2703Asn)
c.231-12946A>T
c.8139A>T (p.Lys2713Asn)
c.8034A>T (p.Lys2678Asn)
c.8025A>T (p.Lys2675Asn)
c.7986A>T (p.Lys2662Asn)
c.7932A>T (p.Lys2644Asn)
c.7836A>T (p.Lys2612Asn)
c.7806A>T (p.Lys2602Asn)
c.7731A>T (p.Lys2577Asn)
c.7629A>T (p.Lys2543Asn)
c.7260A>T (p.Lys2420Asn)
 dbSNP
5g.112843704C>ACA16038944APCc.8164C>A (p.Gln2722Lys)
c.*8116C>A (n.*8116C>A)
c.8056C>A (p.Gln2686Lys)
c.8110C>A (p.Gln2704Lys)
c.231-12945C>A
c.8140C>A (p.Gln2714Lys)
c.8035C>A (p.Gln2679Lys)
c.8026C>A (p.Gln2676Lys)
c.7987C>A (p.Gln2663Lys)
c.7933C>A (p.Gln2645Lys)
c.7837C>A (p.Gln2613Lys)
c.7807C>A (p.Gln2603Lys)
c.7732C>A (p.Gln2578Lys)
c.7630C>A (p.Gln2544Lys)
c.7261C>A (p.Gln2421Lys)
5g.112843704C>GCA16038945APCc.8164C>G (p.Gln2722Glu)
c.*8116C>G (n.*8116C>G)
c.8056C>G (p.Gln2686Glu)
c.8110C>G (p.Gln2704Glu)
c.231-12945C>G
c.8140C>G (p.Gln2714Glu)
c.8035C>G (p.Gln2679Glu)
c.8026C>G (p.Gln2676Glu)
c.7987C>G (p.Gln2663Glu)
c.7933C>G (p.Gln2645Glu)
c.7837C>G (p.Gln2613Glu)
c.7807C>G (p.Gln2603Glu)
c.7732C>G (p.Gln2578Glu)
c.7630C>G (p.Gln2544Glu)
c.7261C>G (p.Gln2421Glu)
 ClinVar gnomAD v4
5g.112843704C>TCA16038946APCc.8164C>T (p.Gln2722Ter)
c.*8116C>T (n.*8116C>T)
c.8056C>T (p.Gln2686Ter)
c.8110C>T (p.Gln2704Ter)
c.231-12945C>T
c.8140C>T (p.Gln2714Ter)
c.8035C>T (p.Gln2679Ter)
c.8026C>T (p.Gln2676Ter)
c.7987C>T (p.Gln2663Ter)
c.7933C>T (p.Gln2645Ter)
c.7837C>T (p.Gln2613Ter)
c.7807C>T (p.Gln2603Ter)
c.7732C>T (p.Gln2578Ter)
c.7630C>T (p.Gln2544Ter)
c.7261C>T (p.Gln2421Ter)
5g.112843705A>CCA16038947APCc.8165A>C (p.Gln2722Pro)
c.*8117A>C (n.*8117A>C)
c.8057A>C (p.Gln2686Pro)
c.8111A>C (p.Gln2704Pro)
c.231-12944A>C
c.8141A>C (p.Gln2714Pro)
c.8036A>C (p.Gln2679Pro)
c.8027A>C (p.Gln2676Pro)
c.7988A>C (p.Gln2663Pro)
c.7934A>C (p.Gln2645Pro)
c.7838A>C (p.Gln2613Pro)
c.7808A>C (p.Gln2603Pro)
c.7733A>C (p.Gln2578Pro)
c.7631A>C (p.Gln2544Pro)
c.7262A>C (p.Gln2421Pro)
5g.112843705A>GCA16038948APCc.8165A>G (p.Gln2722Arg)
c.*8117A>G (n.*8117A>G)
c.8057A>G (p.Gln2686Arg)
c.8111A>G (p.Gln2704Arg)
c.231-12944A>G
c.8141A>G (p.Gln2714Arg)
c.8036A>G (p.Gln2679Arg)
c.8027A>G (p.Gln2676Arg)
c.7988A>G (p.Gln2663Arg)
c.7934A>G (p.Gln2645Arg)
c.7838A>G (p.Gln2613Arg)
c.7808A>G (p.Gln2603Arg)
c.7733A>G (p.Gln2578Arg)
c.7631A>G (p.Gln2544Arg)
c.7262A>G (p.Gln2421Arg)
 ClinVar
5g.112843705A>TCA16038949APCc.8165A>T (p.Gln2722Leu)
c.*8117A>T (n.*8117A>T)
c.8057A>T (p.Gln2686Leu)
c.8111A>T (p.Gln2704Leu)
c.231-12944A>T
c.8141A>T (p.Gln2714Leu)
c.8036A>T (p.Gln2679Leu)
c.8027A>T (p.Gln2676Leu)
c.7988A>T (p.Gln2663Leu)
c.7934A>T (p.Gln2645Leu)
c.7838A>T (p.Gln2613Leu)
c.7808A>T (p.Gln2603Leu)
c.7733A>T (p.Gln2578Leu)
c.7631A>T (p.Gln2544Leu)
c.7262A>T (p.Gln2421Leu)
5g.112843706A=CA1573476079APCc.8166A= (p.Gln2722=)
c.*8118A= (n.*8118A=)
c.8058A= (p.Gln2686=)
c.8112A= (p.Gln2704=)
c.231-12943A=
c.8142A= (p.Gln2714=)
c.8037A= (p.Gln2679=)
c.8028A= (p.Gln2676=)
c.7989A= (p.Gln2663=)
c.7935A= (p.Gln2645=)
c.7839A= (p.Gln2613=)
c.7809A= (p.Gln2603=)
c.7734A= (p.Gln2578=)
c.7632A= (p.Gln2544=)
c.7263A= (p.Gln2421=)
5g.112843706A>CCA16038950APCc.8166A>C (p.Gln2722His)
c.*8118A>C (n.*8118A>C)
c.8058A>C (p.Gln2686His)
c.8112A>C (p.Gln2704His)
c.231-12943A>C
c.8142A>C (p.Gln2714His)
c.8037A>C (p.Gln2679His)
c.8028A>C (p.Gln2676His)
c.7989A>C (p.Gln2663His)
c.7935A>C (p.Gln2645His)
c.7839A>C (p.Gln2613His)
c.7809A>C (p.Gln2603His)
c.7734A>C (p.Gln2578His)
c.7632A>C (p.Gln2544His)
c.7263A>C (p.Gln2421His)
 dbSNP
5g.112843706A>GCA446211166APCc.8166A>G (p.Gln2722=)
c.*8118A>G (n.*8118A>G)
c.8058A>G (p.Gln2686=)
c.8112A>G (p.Gln2704=)
c.231-12943A>G
c.8142A>G (p.Gln2714=)
c.8037A>G (p.Gln2679=)
c.8028A>G (p.Gln2676=)
c.7989A>G (p.Gln2663=)
c.7935A>G (p.Gln2645=)
c.7839A>G (p.Gln2613=)
c.7809A>G (p.Gln2603=)
c.7734A>G (p.Gln2578=)
c.7632A>G (p.Gln2544=)
c.7263A>G (p.Gln2421=)
5g.112843706A>TCA16038951APCc.8166A>T (p.Gln2722His)
c.*8118A>T (n.*8118A>T)
c.8058A>T (p.Gln2686His)
c.8112A>T (p.Gln2704His)
c.231-12943A>T
c.8142A>T (p.Gln2714His)
c.8037A>T (p.Gln2679His)
c.8028A>T (p.Gln2676His)
c.7989A>T (p.Gln2663His)
c.7935A>T (p.Gln2645His)
c.7839A>T (p.Gln2613His)
c.7809A>T (p.Gln2603His)
c.7734A>T (p.Gln2578His)
c.7632A>T (p.Gln2544His)
c.7263A>T (p.Gln2421His)
 dbSNP
5g.112843707A>CCA16038952APCc.8167A>C (p.Asn2723His)
c.*8119A>C (n.*8119A>C)
c.8059A>C (p.Asn2687His)
c.8113A>C (p.Asn2705His)
c.231-12942A>C
c.8143A>C (p.Asn2715His)
c.8038A>C (p.Asn2680His)
c.8029A>C (p.Asn2677His)
c.7990A>C (p.Asn2664His)
c.7936A>C (p.Asn2646His)
c.7840A>C (p.Asn2614His)
c.7810A>C (p.Asn2604His)
c.7735A>C (p.Asn2579His)
c.7633A>C (p.Asn2545His)
c.7264A>C (p.Asn2422His)
5g.112843707A>GCA16038953APCc.8167A>G (p.Asn2723Asp)
c.*8119A>G (n.*8119A>G)
c.8059A>G (p.Asn2687Asp)
c.8113A>G (p.Asn2705Asp)
c.231-12942A>G
c.8143A>G (p.Asn2715Asp)
c.8038A>G (p.Asn2680Asp)
c.8029A>G (p.Asn2677Asp)
c.7990A>G (p.Asn2664Asp)
c.7936A>G (p.Asn2646Asp)
c.7840A>G (p.Asn2614Asp)
c.7810A>G (p.Asn2604Asp)
c.7735A>G (p.Asn2579Asp)
c.7633A>G (p.Asn2545Asp)
c.7264A>G (p.Asn2422Asp)
 dbSNP
5g.112843707A>TCA16038954APCc.8167A>T (p.Asn2723Tyr)
c.*8119A>T (n.*8119A>T)
c.8059A>T (p.Asn2687Tyr)
c.8113A>T (p.Asn2705Tyr)
c.231-12942A>T
c.8143A>T (p.Asn2715Tyr)
c.8038A>T (p.Asn2680Tyr)
c.8029A>T (p.Asn2677Tyr)
c.7990A>T (p.Asn2664Tyr)
c.7936A>T (p.Asn2646Tyr)
c.7840A>T (p.Asn2614Tyr)
c.7810A>T (p.Asn2604Tyr)
c.7735A>T (p.Asn2579Tyr)
c.7633A>T (p.Asn2545Tyr)
c.7264A>T (p.Asn2422Tyr)
 dbSNP
5g.112843708A>CCA16038955APCc.8168A>C (p.Asn2723Thr)
c.*8120A>C (n.*8120A>C)
c.8060A>C (p.Asn2687Thr)
c.8114A>C (p.Asn2705Thr)
c.231-12941A>C
c.8144A>C (p.Asn2715Thr)
c.8039A>C (p.Asn2680Thr)
c.8030A>C (p.Asn2677Thr)
c.7991A>C (p.Asn2664Thr)
c.7937A>C (p.Asn2646Thr)
c.7841A>C (p.Asn2614Thr)
c.7811A>C (p.Asn2604Thr)
c.7736A>C (p.Asn2579Thr)
c.7634A>C (p.Asn2545Thr)
c.7265A>C (p.Asn2422Thr)
5g.112843708A>GCA16038956APCc.8168A>G (p.Asn2723Ser)
c.*8120A>G (n.*8120A>G)
c.8060A>G (p.Asn2687Ser)
c.8114A>G (p.Asn2705Ser)
c.231-12941A>G
c.8144A>G (p.Asn2715Ser)
c.8039A>G (p.Asn2680Ser)
c.8030A>G (p.Asn2677Ser)
c.7991A>G (p.Asn2664Ser)
c.7937A>G (p.Asn2646Ser)
c.7841A>G (p.Asn2614Ser)
c.7811A>G (p.Asn2604Ser)
c.7736A>G (p.Asn2579Ser)
c.7634A>G (p.Asn2545Ser)
c.7265A>G (p.Asn2422Ser)
 ClinVar
5g.112843708A>TCA16038957APCc.8168A>T (p.Asn2723Ile)
c.*8120A>T (n.*8120A>T)
c.8060A>T (p.Asn2687Ile)
c.8114A>T (p.Asn2705Ile)
c.231-12941A>T
c.8144A>T (p.Asn2715Ile)
c.8039A>T (p.Asn2680Ile)
c.8030A>T (p.Asn2677Ile)
c.7991A>T (p.Asn2664Ile)
c.7937A>T (p.Asn2646Ile)
c.7841A>T (p.Asn2614Ile)
c.7811A>T (p.Asn2604Ile)
c.7736A>T (p.Asn2579Ile)
c.7634A>T (p.Asn2545Ile)
c.7265A>T (p.Asn2422Ile)
 dbSNP
5g.112843709T>ACA16038958APCc.8169T>A (p.Asn2723Lys)
c.*8121T>A (n.*8121T>A)
c.8061T>A (p.Asn2687Lys)
c.8115T>A (p.Asn2705Lys)
c.231-12940T>A
c.8145T>A (p.Asn2715Lys)
c.8040T>A (p.Asn2680Lys)
c.8031T>A (p.Asn2677Lys)
c.7992T>A (p.Asn2664Lys)
c.7938T>A (p.Asn2646Lys)
c.7842T>A (p.Asn2614Lys)
c.7812T>A (p.Asn2604Lys)
c.7737T>A (p.Asn2579Lys)
c.7635T>A (p.Asn2545Lys)
c.7266T>A (p.Asn2422Lys)
 dbSNP
5g.112843709T>CCA446211173APCc.8169T>C (p.Asn2723=)
c.*8121T>C (n.*8121T>C)
c.8061T>C (p.Asn2687=)
c.8115T>C (p.Asn2705=)
c.231-12940T>C
c.8145T>C (p.Asn2715=)
c.8040T>C (p.Asn2680=)
c.8031T>C (p.Asn2677=)
c.7992T>C (p.Asn2664=)
c.7938T>C (p.Asn2646=)
c.7842T>C (p.Asn2614=)
c.7812T>C (p.Asn2604=)
c.7737T>C (p.Asn2579=)
c.7635T>C (p.Asn2545=)
c.7266T>C (p.Asn2422=)
 ClinVar dbSNP gnomAD v4
5g.112843709T>GCA16038959APCc.8169T>G (p.Asn2723Lys)
c.*8121T>G (n.*8121T>G)
c.8061T>G (p.Asn2687Lys)
c.8115T>G (p.Asn2705Lys)
c.231-12940T>G
c.8145T>G (p.Asn2715Lys)
c.8040T>G (p.Asn2680Lys)
c.8031T>G (p.Asn2677Lys)
c.7992T>G (p.Asn2664Lys)
c.7938T>G (p.Asn2646Lys)
c.7842T>G (p.Asn2614Lys)
c.7812T>G (p.Asn2604Lys)
c.7737T>G (p.Asn2579Lys)
c.7635T>G (p.Asn2545Lys)
c.7266T>G (p.Asn2422Lys)
5g.112843709T=CA1573476086APCc.8169T= (p.Asn2723=)
c.*8121T= (n.*8121T=)
c.8061T= (p.Asn2687=)
c.8115T= (p.Asn2705=)
c.231-12940T=
c.8145T= (p.Asn2715=)
c.8040T= (p.Asn2680=)
c.8031T= (p.Asn2677=)
c.7992T= (p.Asn2664=)
c.7938T= (p.Asn2646=)
c.7842T= (p.Asn2614=)
c.7812T= (p.Asn2604=)
c.7737T= (p.Asn2579=)
c.7635T= (p.Asn2545=)
c.7266T= (p.Asn2422=)
5g.112843710G>ACA16038960APCc.8170G>A (p.Val2724Met)
c.*8122G>A (n.*8122G>A)
c.8062G>A (p.Val2688Met)
c.8116G>A (p.Val2706Met)
c.231-12939G>A
c.8146G>A (p.Val2716Met)
c.8041G>A (p.Val2681Met)
c.8032G>A (p.Val2678Met)
c.7993G>A (p.Val2665Met)
c.7939G>A (p.Val2647Met)
c.7843G>A (p.Val2615Met)
c.7813G>A (p.Val2605Met)
c.7738G>A (p.Val2580Met)
c.7636G>A (p.Val2546Met)
c.7267G>A (p.Val2423Met)
 ClinVar dbSNP gnomAD v4
5g.112843710G>CCA16038961APCc.8170G>C (p.Val2724Leu)
c.*8122G>C (n.*8122G>C)
c.8062G>C (p.Val2688Leu)
c.8116G>C (p.Val2706Leu)
c.231-12939G>C
c.8146G>C (p.Val2716Leu)
c.8041G>C (p.Val2681Leu)
c.8032G>C (p.Val2678Leu)
c.7993G>C (p.Val2665Leu)
c.7939G>C (p.Val2647Leu)
c.7843G>C (p.Val2615Leu)
c.7813G>C (p.Val2605Leu)
c.7738G>C (p.Val2580Leu)
c.7636G>C (p.Val2546Leu)
c.7267G>C (p.Val2423Leu)
 dbSNP
5g.112843710G=CA1573476092APCc.8170G= (p.Val2724=)
c.*8122G= (n.*8122G=)
c.8062G= (p.Val2688=)
c.8116G= (p.Val2706=)
c.231-12939G=
c.8146G= (p.Val2716=)
c.8041G= (p.Val2681=)
c.8032G= (p.Val2678=)
c.7993G= (p.Val2665=)
c.7939G= (p.Val2647=)
c.7843G= (p.Val2615=)
c.7813G= (p.Val2605=)
c.7738G= (p.Val2580=)
c.7636G= (p.Val2546=)
c.7267G= (p.Val2423=)
5g.112843710G>TCA16038962APCc.8170G>T (p.Val2724Leu)
c.*8122G>T (n.*8122G>T)
c.8062G>T (p.Val2688Leu)
c.8116G>T (p.Val2706Leu)
c.231-12939G>T
c.8146G>T (p.Val2716Leu)
c.8041G>T (p.Val2681Leu)
c.8032G>T (p.Val2678Leu)
c.7993G>T (p.Val2665Leu)
c.7939G>T (p.Val2647Leu)
c.7843G>T (p.Val2615Leu)
c.7813G>T (p.Val2605Leu)
c.7738G>T (p.Val2580Leu)
c.7636G>T (p.Val2546Leu)
c.7267G>T (p.Val2423Leu)
5g.112843711T>ACA16038963APCc.8171T>A (p.Val2724Glu)
c.*8123T>A (n.*8123T>A)
c.8063T>A (p.Val2688Glu)
c.8117T>A (p.Val2706Glu)
c.231-12938T>A
c.8147T>A (p.Val2716Glu)
c.8042T>A (p.Val2681Glu)
c.8033T>A (p.Val2678Glu)
c.7994T>A (p.Val2665Glu)
c.7940T>A (p.Val2647Glu)
c.7844T>A (p.Val2615Glu)
c.7814T>A (p.Val2605Glu)
c.7739T>A (p.Val2580Glu)
c.7637T>A (p.Val2546Glu)
c.7268T>A (p.Val2423Glu)
5g.112843711T>CCA16038964APCc.8171T>C (p.Val2724Ala)
c.*8123T>C (n.*8123T>C)
c.8063T>C (p.Val2688Ala)
c.8117T>C (p.Val2706Ala)
c.231-12938T>C
c.8147T>C (p.Val2716Ala)
c.8042T>C (p.Val2681Ala)
c.8033T>C (p.Val2678Ala)
c.7994T>C (p.Val2665Ala)
c.7940T>C (p.Val2647Ala)
c.7844T>C (p.Val2615Ala)
c.7814T>C (p.Val2605Ala)
c.7739T>C (p.Val2580Ala)
c.7637T>C (p.Val2546Ala)
c.7268T>C (p.Val2423Ala)
 ClinVar dbSNP
5g.112843711T>GCA16038965APCc.8171T>G (p.Val2724Gly)
c.*8123T>G (n.*8123T>G)
c.8063T>G (p.Val2688Gly)
c.8117T>G (p.Val2706Gly)
c.231-12938T>G
c.8147T>G (p.Val2716Gly)
c.8042T>G (p.Val2681Gly)
c.8033T>G (p.Val2678Gly)
c.7994T>G (p.Val2665Gly)
c.7940T>G (p.Val2647Gly)
c.7844T>G (p.Val2615Gly)
c.7814T>G (p.Val2605Gly)
c.7739T>G (p.Val2580Gly)
c.7637T>G (p.Val2546Gly)
c.7268T>G (p.Val2423Gly)
 ClinVar dbSNP gnomAD v4
5g.112843711T=CA1573476105APCc.8171T= (p.Val2724=)
c.*8123T= (n.*8123T=)
c.8063T= (p.Val2688=)
c.8117T= (p.Val2706=)
c.231-12938T=
c.8147T= (p.Val2716=)
c.8042T= (p.Val2681=)
c.8033T= (p.Val2678=)
c.7994T= (p.Val2665=)
c.7940T= (p.Val2647=)
c.7844T= (p.Val2615=)
c.7814T= (p.Val2605=)
c.7739T= (p.Val2580=)
c.7637T= (p.Val2546=)
c.7268T= (p.Val2423=)
5g.112843712G>ACA446211176APCc.8172G>A (p.Val2724=)
c.*8124G>A (n.*8124G>A)
c.8064G>A (p.Val2688=)
c.8118G>A (p.Val2706=)
c.231-12937G>A
c.8148G>A (p.Val2716=)
c.8043G>A (p.Val2681=)
c.8034G>A (p.Val2678=)
c.7995G>A (p.Val2665=)
c.7941G>A (p.Val2647=)
c.7845G>A (p.Val2615=)
c.7815G>A (p.Val2605=)
c.7740G>A (p.Val2580=)
c.7638G>A (p.Val2546=)
c.7269G>A (p.Val2423=)
 ClinVar
5g.112843712G>CCA446211177APCc.8172G>C (p.Val2724=)
c.*8124G>C (n.*8124G>C)
c.8064G>C (p.Val2688=)
c.8118G>C (p.Val2706=)
c.231-12937G>C
c.8148G>C (p.Val2716=)
c.8043G>C (p.Val2681=)
c.8034G>C (p.Val2678=)
c.7995G>C (p.Val2665=)
c.7941G>C (p.Val2647=)
c.7845G>C (p.Val2615=)
c.7815G>C (p.Val2605=)
c.7740G>C (p.Val2580=)
c.7638G>C (p.Val2546=)
c.7269G>C (p.Val2423=)
 ClinVar dbSNP gnomAD v4
5g.112843712G=CA1573476125APCc.8172G= (p.Val2724=)
c.*8124G= (n.*8124G=)
c.8064G= (p.Val2688=)
c.8118G= (p.Val2706=)
c.231-12937G=
c.8148G= (p.Val2716=)
c.8043G= (p.Val2681=)
c.8034G= (p.Val2678=)
c.7995G= (p.Val2665=)
c.7941G= (p.Val2647=)
c.7845G= (p.Val2615=)
c.7815G= (p.Val2605=)
c.7740G= (p.Val2580=)
c.7638G= (p.Val2546=)
c.7269G= (p.Val2423=)
5g.112843712G>TCA446211179APCc.8172G>T (p.Val2724=)
c.*8124G>T (n.*8124G>T)
c.8064G>T (p.Val2688=)
c.8118G>T (p.Val2706=)
c.231-12937G>T
c.8148G>T (p.Val2716=)
c.8043G>T (p.Val2681=)
c.8034G>T (p.Val2678=)
c.7995G>T (p.Val2665=)
c.7941G>T (p.Val2647=)
c.7845G>T (p.Val2615=)
c.7815G>T (p.Val2605=)
c.7740G>T (p.Val2580=)
c.7638G>T (p.Val2546=)
c.7269G>T (p.Val2423=)
5g.112843712_112843713insTCGCA1573476118APCc.8172_8173insTCG (p.Val2724_Gly2725insSer)
c.*8124_*8125insTCG (n.*8124_*8125insTCG)
c.8064_8065insTCG (p.Val2688_Gly2689insSer)
c.8118_8119insTCG (p.Val2706_Gly2707insSer)
c.231-12937_231-12936insTCG
c.8148_8149insTCG (p.Val2716_Gly2717insSer)
c.8043_8044insTCG (p.Val2681_Gly2682insSer)
c.8034_8035insTCG (p.Val2678_Gly2679insSer)
c.7995_7996insTCG (p.Val2665_Gly2666insSer)
c.7941_7942insTCG (p.Val2647_Gly2648insSer)
c.7845_7846insTCG (p.Val2615_Gly2616insSer)
c.7815_7816insTCG (p.Val2605_Gly2606insSer)
c.7740_7741insTCG (p.Val2580_Gly2581insSer)
c.7638_7639insTCG (p.Val2546_Gly2547insSer)
c.7269_7270insTCG (p.Val2423_Gly2424insSer)
 dbSNP
5g.112843712_112843714delinsGGGCA1573476122APCc.8172_8174delinsGGG (p.Val2724=)
c.*8124_*8126delinsGGG (n.*8124_*8126delinsGGG)
c.8064_8066delinsGGG (p.Val2688=)
c.8118_8120delinsGGG (p.Val2706=)
c.231-12937_231-12935delinsGGG
c.8148_8150delinsGGG (p.Val2716=)
c.8043_8045delinsGGG (p.Val2681=)
c.8034_8036delinsGGG (p.Val2678=)
c.7995_7997delinsGGG (p.Val2665=)
c.7941_7943delinsGGG (p.Val2647=)
c.7845_7847delinsGGG (p.Val2615=)
c.7815_7817delinsGGG (p.Val2605=)
c.7740_7742delinsGGG (p.Val2580=)
c.7638_7640delinsGGG (p.Val2546=)
c.7269_7271delinsGGG (p.Val2423=)
5g.112843714delCA2709997654APCc.8174del (p.Gly2725ValfsTer16)
c.*8126del (n.*8126del)
c.8066del (p.Gly2689ValfsTer16)
c.8120del (p.Gly2707ValfsTer16)
c.231-12935del
c.8150del (p.Gly2717ValfsTer16)
c.8045del (p.Gly2682ValfsTer16)
c.8036del (p.Gly2679ValfsTer16)
c.7997del (p.Gly2666ValfsTer16)
c.7943del (p.Gly2648ValfsTer16)
c.7847del (p.Gly2616ValfsTer16)
c.7817del (p.Gly2606ValfsTer16)
c.7742del (p.Gly2581ValfsTer16)
c.7640del (p.Gly2547ValfsTer16)
c.7271del (p.Gly2424ValfsTer16)
 dbSNP
5g.112843713G>ACA16038966APCc.8173G>A (p.Gly2725Ser)
c.*8125G>A (n.*8125G>A)
c.8065G>A (p.Gly2689Ser)
c.8119G>A (p.Gly2707Ser)
c.231-12936G>A
c.8149G>A (p.Gly2717Ser)
c.8044G>A (p.Gly2682Ser)
c.8035G>A (p.Gly2679Ser)
c.7996G>A (p.Gly2666Ser)
c.7942G>A (p.Gly2648Ser)
c.7846G>A (p.Gly2616Ser)
c.7816G>A (p.Gly2606Ser)
c.7741G>A (p.Gly2581Ser)
c.7639G>A (p.Gly2547Ser)
c.7270G>A (p.Gly2424Ser)
 ClinVar dbSNP
5g.112843713G>CCA16038967APCc.8173G>C (p.Gly2725Arg)
c.*8125G>C (n.*8125G>C)
c.8065G>C (p.Gly2689Arg)
c.8119G>C (p.Gly2707Arg)
c.231-12936G>C
c.8149G>C (p.Gly2717Arg)
c.8044G>C (p.Gly2682Arg)
c.8035G>C (p.Gly2679Arg)
c.7996G>C (p.Gly2666Arg)
c.7942G>C (p.Gly2648Arg)
c.7846G>C (p.Gly2616Arg)
c.7816G>C (p.Gly2606Arg)
c.7741G>C (p.Gly2581Arg)
c.7639G>C (p.Gly2547Arg)
c.7270G>C (p.Gly2424Arg)
 ClinVar dbSNP
5g.112843713G=CA1573476137APCc.8173G= (p.Gly2725=)
c.*8125G= (n.*8125G=)
c.8065G= (p.Gly2689=)
c.8119G= (p.Gly2707=)
c.231-12936G=
c.8149G= (p.Gly2717=)
c.8044G= (p.Gly2682=)
c.8035G= (p.Gly2679=)
c.7996G= (p.Gly2666=)
c.7942G= (p.Gly2648=)
c.7846G= (p.Gly2616=)
c.7816G= (p.Gly2606=)
c.7741G= (p.Gly2581=)
c.7639G= (p.Gly2547=)
c.7270G= (p.Gly2424=)
5g.112843713G>TCA16038968APCc.8173G>T (p.Gly2725Cys)
c.*8125G>T (n.*8125G>T)
c.8065G>T (p.Gly2689Cys)
c.8119G>T (p.Gly2707Cys)
c.231-12936G>T
c.8149G>T (p.Gly2717Cys)
c.8044G>T (p.Gly2682Cys)
c.8035G>T (p.Gly2679Cys)
c.7996G>T (p.Gly2666Cys)
c.7942G>T (p.Gly2648Cys)
c.7846G>T (p.Gly2616Cys)
c.7816G>T (p.Gly2606Cys)
c.7741G>T (p.Gly2581Cys)
c.7639G>T (p.Gly2547Cys)
c.7270G>T (p.Gly2424Cys)
 ClinVar dbSNP
5g.112843713_112843714delinsTCGTTCA658657466APCc.8173_8174delinsTCGTT (p.Gly2725delinsSerPhe)
c.*8125_*8126delinsTCGTT (n.*8125_*8126delinsTCGTT)
c.8065_8066delinsTCGTT (p.Gly2689delinsSerPhe)
c.8119_8120delinsTCGTT (p.Gly2707delinsSerPhe)
c.231-12936_231-12935delinsTCGTT
c.8149_8150delinsTCGTT (p.Gly2717delinsSerPhe)
c.8044_8045delinsTCGTT (p.Gly2682delinsSerPhe)
c.8035_8036delinsTCGTT (p.Gly2679delinsSerPhe)
c.7996_7997delinsTCGTT (p.Gly2666delinsSerPhe)
c.7942_7943delinsTCGTT (p.Gly2648delinsSerPhe)
c.7846_7847delinsTCGTT (p.Gly2616delinsSerPhe)
c.7816_7817delinsTCGTT (p.Gly2606delinsSerPhe)
c.7741_7742delinsTCGTT (p.Gly2581delinsSerPhe)
c.7639_7640delinsTCGTT (p.Gly2547delinsSerPhe)
c.7270_7271delinsTCGTT (p.Gly2424delinsSerPhe)
 ClinVar dbSNP
5g.112843714G>ACA16038969APCc.8174G>A (p.Gly2725Asp)
c.*8126G>A (n.*8126G>A)
c.8066G>A (p.Gly2689Asp)
c.8120G>A (p.Gly2707Asp)
c.231-12935G>A
c.8150G>A (p.Gly2717Asp)
c.8045G>A (p.Gly2682Asp)
c.8036G>A (p.Gly2679Asp)
c.7997G>A (p.Gly2666Asp)
c.7943G>A (p.Gly2648Asp)
c.7847G>A (p.Gly2616Asp)
c.7817G>A (p.Gly2606Asp)
c.7742G>A (p.Gly2581Asp)
c.7640G>A (p.Gly2547Asp)
c.7271G>A (p.Gly2424Asp)
 ClinVar dbSNP
5g.112843714G>CCA16038970APCc.8174G>C (p.Gly2725Ala)
c.*8126G>C (n.*8126G>C)
c.8066G>C (p.Gly2689Ala)
c.8120G>C (p.Gly2707Ala)
c.231-12935G>C
c.8150G>C (p.Gly2717Ala)
c.8045G>C (p.Gly2682Ala)
c.8036G>C (p.Gly2679Ala)
c.7997G>C (p.Gly2666Ala)
c.7943G>C (p.Gly2648Ala)
c.7847G>C (p.Gly2616Ala)
c.7817G>C (p.Gly2606Ala)
c.7742G>C (p.Gly2581Ala)
c.7640G>C (p.Gly2547Ala)
c.7271G>C (p.Gly2424Ala)
 dbSNP
5g.112843714G=CA1573476151APCc.8174G= (p.Gly2725=)
c.*8126G= (n.*8126G=)
c.8066G= (p.Gly2689=)
c.8120G= (p.Gly2707=)
c.231-12935G=
c.8150G= (p.Gly2717=)
c.8045G= (p.Gly2682=)
c.8036G= (p.Gly2679=)
c.7997G= (p.Gly2666=)
c.7943G= (p.Gly2648=)
c.7847G= (p.Gly2616=)
c.7817G= (p.Gly2606=)
c.7742G= (p.Gly2581=)
c.7640G= (p.Gly2547=)
c.7271G= (p.Gly2424=)
5g.112843714G>TCA16038971APCc.8174G>T (p.Gly2725Val)
c.*8126G>T (n.*8126G>T)
c.8066G>T (p.Gly2689Val)
c.8120G>T (p.Gly2707Val)
c.231-12935G>T
c.8150G>T (p.Gly2717Val)
c.8045G>T (p.Gly2682Val)
c.8036G>T (p.Gly2679Val)
c.7997G>T (p.Gly2666Val)
c.7943G>T (p.Gly2648Val)
c.7847G>T (p.Gly2616Val)
c.7817G>T (p.Gly2606Val)
c.7742G>T (p.Gly2581Val)
c.7640G>T (p.Gly2547Val)
c.7271G>T (p.Gly2424Val)
 ClinVar dbSNP gnomAD v4
5g.112843715delCA2695198715APCc.8175del (p.Asn2726MetfsTer15)
c.*8127del (n.*8127del)
c.8067del (p.Asn2690MetfsTer15)
c.8121del (p.Asn2708MetfsTer15)
c.231-12934del
c.8151del (p.Asn2718MetfsTer15)
c.8046del (p.Asn2683MetfsTer15)
c.8037del (p.Asn2680MetfsTer15)
c.7998del (p.Asn2667MetfsTer15)
c.7944del (p.Asn2649MetfsTer15)
c.7848del (p.Asn2617MetfsTer15)
c.7818del (p.Asn2607MetfsTer15)
c.7743del (p.Asn2582MetfsTer15)
c.7641del (p.Asn2548MetfsTer15)
c.7272del (p.Asn2425MetfsTer15)
 ClinVar
5g.112843715T>ACA446211183APCc.8175T>A (p.Gly2725=)
c.*8127T>A (n.*8127T>A)
c.8067T>A (p.Gly2689=)
c.8121T>A (p.Gly2707=)
c.231-12934T>A
c.8151T>A (p.Gly2717=)
c.8046T>A (p.Gly2682=)
c.8037T>A (p.Gly2679=)
c.7998T>A (p.Gly2666=)
c.7944T>A (p.Gly2648=)
c.7848T>A (p.Gly2616=)
c.7818T>A (p.Gly2606=)
c.7743T>A (p.Gly2581=)
c.7641T>A (p.Gly2547=)
c.7272T>A (p.Gly2424=)
 dbSNP
5g.112843715T>CCA446211184APCc.8175T>C (p.Gly2725=)
c.*8127T>C (n.*8127T>C)
c.8067T>C (p.Gly2689=)
c.8121T>C (p.Gly2707=)
c.231-12934T>C
c.8151T>C (p.Gly2717=)
c.8046T>C (p.Gly2682=)
c.8037T>C (p.Gly2679=)
c.7998T>C (p.Gly2666=)
c.7944T>C (p.Gly2648=)
c.7848T>C (p.Gly2616=)
c.7818T>C (p.Gly2606=)
c.7743T>C (p.Gly2581=)
c.7641T>C (p.Gly2547=)
c.7272T>C (p.Gly2424=)
 ClinVar
5g.112843715T>GCA446211185APCc.8175T>G (p.Gly2725=)
c.*8127T>G (n.*8127T>G)
c.8067T>G (p.Gly2689=)
c.8121T>G (p.Gly2707=)
c.231-12934T>G
c.8151T>G (p.Gly2717=)
c.8046T>G (p.Gly2682=)
c.8037T>G (p.Gly2679=)
c.7998T>G (p.Gly2666=)
c.7944T>G (p.Gly2648=)
c.7848T>G (p.Gly2616=)
c.7818T>G (p.Gly2606=)
c.7743T>G (p.Gly2581=)
c.7641T>G (p.Gly2547=)
c.7272T>G (p.Gly2424=)
 dbSNP
5g.112843716A=CA1573476162APCc.8176A= (p.Asn2726=)
c.*8128A= (n.*8128A=)
c.8068A= (p.Asn2690=)
c.8122A= (p.Asn2708=)
c.231-12933A=
c.8152A= (p.Asn2718=)
c.8047A= (p.Asn2683=)
c.8038A= (p.Asn2680=)
c.7999A= (p.Asn2667=)
c.7945A= (p.Asn2649=)
c.7849A= (p.Asn2617=)
c.7819A= (p.Asn2607=)
c.7744A= (p.Asn2582=)
c.7642A= (p.Asn2548=)
c.7273A= (p.Asn2425=)
5g.112843716A>CCA16038972APCc.8176A>C (p.Asn2726His)
c.*8128A>C (n.*8128A>C)
c.8068A>C (p.Asn2690His)
c.8122A>C (p.Asn2708His)
c.231-12933A>C
c.8152A>C (p.Asn2718His)
c.8047A>C (p.Asn2683His)
c.8038A>C (p.Asn2680His)
c.7999A>C (p.Asn2667His)
c.7945A>C (p.Asn2649His)
c.7849A>C (p.Asn2617His)
c.7819A>C (p.Asn2607His)
c.7744A>C (p.Asn2582His)
c.7642A>C (p.Asn2548His)
c.7273A>C (p.Asn2425His)
 dbSNP
5g.112843716A>GCA16038973APCc.8176A>G (p.Asn2726Asp)
c.*8128A>G (n.*8128A>G)
c.8068A>G (p.Asn2690Asp)
c.8122A>G (p.Asn2708Asp)
c.231-12933A>G
c.8152A>G (p.Asn2718Asp)
c.8047A>G (p.Asn2683Asp)
c.8038A>G (p.Asn2680Asp)
c.7999A>G (p.Asn2667Asp)
c.7945A>G (p.Asn2649Asp)
c.7849A>G (p.Asn2617Asp)
c.7819A>G (p.Asn2607Asp)
c.7744A>G (p.Asn2582Asp)
c.7642A>G (p.Asn2548Asp)
c.7273A>G (p.Asn2425Asp)
 ClinVar dbSNP gnomAD v4
5g.112843716A>TCA16038974APCc.8176A>T (p.Asn2726Tyr)
c.*8128A>T (n.*8128A>T)
c.8068A>T (p.Asn2690Tyr)
c.8122A>T (p.Asn2708Tyr)
c.231-12933A>T
c.8152A>T (p.Asn2718Tyr)
c.8047A>T (p.Asn2683Tyr)
c.8038A>T (p.Asn2680Tyr)
c.7999A>T (p.Asn2667Tyr)
c.7945A>T (p.Asn2649Tyr)
c.7849A>T (p.Asn2617Tyr)
c.7819A>T (p.Asn2607Tyr)
c.7744A>T (p.Asn2582Tyr)
c.7642A>T (p.Asn2548Tyr)
c.7273A>T (p.Asn2425Tyr)
 dbSNP
5g.112843717A>CCA16038975APCc.8177A>C (p.Asn2726Thr)
c.*8129A>C (n.*8129A>C)
c.8069A>C (p.Asn2690Thr)
c.8123A>C (p.Asn2708Thr)
c.231-12932A>C
c.8153A>C (p.Asn2718Thr)
c.8048A>C (p.Asn2683Thr)
c.8039A>C (p.Asn2680Thr)
c.8000A>C (p.Asn2667Thr)
c.7946A>C (p.Asn2649Thr)
c.7850A>C (p.Asn2617Thr)
c.7820A>C (p.Asn2607Thr)
c.7745A>C (p.Asn2582Thr)
c.7643A>C (p.Asn2548Thr)
c.7274A>C (p.Asn2425Thr)
5g.112843717A>GCA16038976APCc.8177A>G (p.Asn2726Ser)
c.*8129A>G (n.*8129A>G)
c.8069A>G (p.Asn2690Ser)
c.8123A>G (p.Asn2708Ser)
c.231-12932A>G
c.8153A>G (p.Asn2718Ser)
c.8048A>G (p.Asn2683Ser)
c.8039A>G (p.Asn2680Ser)
c.8000A>G (p.Asn2667Ser)
c.7946A>G (p.Asn2649Ser)
c.7850A>G (p.Asn2617Ser)
c.7820A>G (p.Asn2607Ser)
c.7745A>G (p.Asn2582Ser)
c.7643A>G (p.Asn2548Ser)
c.7274A>G (p.Asn2425Ser)
 ClinVar
5g.112843717A>TCA16038977APCc.8177A>T (p.Asn2726Ile)
c.*8129A>T (n.*8129A>T)
c.8069A>T (p.Asn2690Ile)
c.8123A>T (p.Asn2708Ile)
c.231-12932A>T
c.8153A>T (p.Asn2718Ile)
c.8048A>T (p.Asn2683Ile)
c.8039A>T (p.Asn2680Ile)
c.8000A>T (p.Asn2667Ile)
c.7946A>T (p.Asn2649Ile)
c.7850A>T (p.Asn2617Ile)
c.7820A>T (p.Asn2607Ile)
c.7745A>T (p.Asn2582Ile)
c.7643A>T (p.Asn2548Ile)
c.7274A>T (p.Asn2425Ile)
5g.112843718T>ACA16038978APCc.8178T>A (p.Asn2726Lys)
c.*8130T>A (n.*8130T>A)
c.8070T>A (p.Asn2690Lys)
c.8124T>A (p.Asn2708Lys)
c.231-12931T>A
c.8154T>A (p.Asn2718Lys)
c.8049T>A (p.Asn2683Lys)
c.8040T>A (p.Asn2680Lys)
c.8001T>A (p.Asn2667Lys)
c.7947T>A (p.Asn2649Lys)
c.7851T>A (p.Asn2617Lys)
c.7821T>A (p.Asn2607Lys)
c.7746T>A (p.Asn2582Lys)
c.7644T>A (p.Asn2548Lys)
c.7275T>A (p.Asn2425Lys)
5g.112843718T>CCA049942APCc.8178T>C (p.Asn2726=)
c.*8130T>C (n.*8130T>C)
c.8070T>C (p.Asn2690=)
c.8124T>C (p.Asn2708=)
c.231-12931T>C
c.8154T>C (p.Asn2718=)
c.8049T>C (p.Asn2683=)
c.8040T>C (p.Asn2680=)
c.8001T>C (p.Asn2667=)
c.7947T>C (p.Asn2649=)
c.7851T>C (p.Asn2617=)
c.7821T>C (p.Asn2607=)
c.7746T>C (p.Asn2582=)
c.7644T>C (p.Asn2548=)
c.7275T>C (p.Asn2425=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112843718T>GCA16038979APCc.8178T>G (p.Asn2726Lys)
c.*8130T>G (n.*8130T>G)
c.8070T>G (p.Asn2690Lys)
c.8124T>G (p.Asn2708Lys)
c.231-12931T>G
c.8154T>G (p.Asn2718Lys)
c.8049T>G (p.Asn2683Lys)
c.8040T>G (p.Asn2680Lys)
c.8001T>G (p.Asn2667Lys)
c.7947T>G (p.Asn2649Lys)
c.7851T>G (p.Asn2617Lys)
c.7821T>G (p.Asn2607Lys)
c.7746T>G (p.Asn2582Lys)
c.7644T>G (p.Asn2548Lys)
c.7275T>G (p.Asn2425Lys)
5g.112843718T=CA1573476208APCc.8178T= (p.Asn2726=)
c.*8130T= (n.*8130T=)
c.8070T= (p.Asn2690=)
c.8124T= (p.Asn2708=)
c.231-12931T=
c.8154T= (p.Asn2718=)
c.8049T= (p.Asn2683=)
c.8040T= (p.Asn2680=)
c.8001T= (p.Asn2667=)
c.7947T= (p.Asn2649=)
c.7851T= (p.Asn2617=)
c.7821T= (p.Asn2607=)
c.7746T= (p.Asn2582=)
c.7644T= (p.Asn2548=)
c.7275T= (p.Asn2425=)
5g.112843719G>ACA16038980APCc.8179G>A (p.Gly2727Ser)
c.*8131G>A (n.*8131G>A)
c.8071G>A (p.Gly2691Ser)
c.8125G>A (p.Gly2709Ser)
c.231-12930G>A
c.8155G>A (p.Gly2719Ser)
c.8050G>A (p.Gly2684Ser)
c.8041G>A (p.Gly2681Ser)
c.8002G>A (p.Gly2668Ser)
c.7948G>A (p.Gly2650Ser)
c.7852G>A (p.Gly2618Ser)
c.7822G>A (p.Gly2608Ser)
c.7747G>A (p.Gly2583Ser)
c.7645G>A (p.Gly2549Ser)
c.7276G>A (p.Gly2426Ser)
 dbSNP
5g.112843719G>CCA16038981APCc.8179G>C (p.Gly2727Arg)
c.*8131G>C (n.*8131G>C)
c.8071G>C (p.Gly2691Arg)
c.8125G>C (p.Gly2709Arg)
c.231-12930G>C
c.8155G>C (p.Gly2719Arg)
c.8050G>C (p.Gly2684Arg)
c.8041G>C (p.Gly2681Arg)
c.8002G>C (p.Gly2668Arg)
c.7948G>C (p.Gly2650Arg)
c.7852G>C (p.Gly2618Arg)
c.7822G>C (p.Gly2608Arg)
c.7747G>C (p.Gly2583Arg)
c.7645G>C (p.Gly2549Arg)
c.7276G>C (p.Gly2426Arg)
 dbSNP
5g.112843719G>TCA16038982APCc.8179G>T (p.Gly2727Cys)
c.*8131G>T (n.*8131G>T)
c.8071G>T (p.Gly2691Cys)
c.8125G>T (p.Gly2709Cys)
c.231-12930G>T
c.8155G>T (p.Gly2719Cys)
c.8050G>T (p.Gly2684Cys)
c.8041G>T (p.Gly2681Cys)
c.8002G>T (p.Gly2668Cys)
c.7948G>T (p.Gly2650Cys)
c.7852G>T (p.Gly2618Cys)
c.7822G>T (p.Gly2608Cys)
c.7747G>T (p.Gly2583Cys)
c.7645G>T (p.Gly2549Cys)
c.7276G>T (p.Gly2426Cys)
 dbSNP
5g.112843720G>ACA16038983APCc.8180G>A (p.Gly2727Asp)
c.*8132G>A (n.*8132G>A)
c.8072G>A (p.Gly2691Asp)
c.8126G>A (p.Gly2709Asp)
c.231-12929G>A
c.8156G>A (p.Gly2719Asp)
c.8051G>A (p.Gly2684Asp)
c.8042G>A (p.Gly2681Asp)
c.8003G>A (p.Gly2668Asp)
c.7949G>A (p.Gly2650Asp)
c.7853G>A (p.Gly2618Asp)
c.7823G>A (p.Gly2608Asp)
c.7748G>A (p.Gly2583Asp)
c.7646G>A (p.Gly2549Asp)
c.7277G>A (p.Gly2426Asp)
 ClinVar dbSNP
5g.112843720G>CCA16038984APCc.8180G>C (p.Gly2727Ala)
c.*8132G>C (n.*8132G>C)
c.8072G>C (p.Gly2691Ala)
c.8126G>C (p.Gly2709Ala)
c.231-12929G>C
c.8156G>C (p.Gly2719Ala)
c.8051G>C (p.Gly2684Ala)
c.8042G>C (p.Gly2681Ala)
c.8003G>C (p.Gly2668Ala)
c.7949G>C (p.Gly2650Ala)
c.7853G>C (p.Gly2618Ala)
c.7823G>C (p.Gly2608Ala)
c.7748G>C (p.Gly2583Ala)
c.7646G>C (p.Gly2549Ala)
c.7277G>C (p.Gly2426Ala)
 dbSNP
5g.112843720G=CA1573476212APCc.8180G= (p.Gly2727=)
c.*8132G= (n.*8132G=)
c.8072G= (p.Gly2691=)
c.8126G= (p.Gly2709=)
c.231-12929G=
c.8156G= (p.Gly2719=)
c.8051G= (p.Gly2684=)
c.8042G= (p.Gly2681=)
c.8003G= (p.Gly2668=)
c.7949G= (p.Gly2650=)
c.7853G= (p.Gly2618=)
c.7823G= (p.Gly2608=)
c.7748G= (p.Gly2583=)
c.7646G= (p.Gly2549=)
c.7277G= (p.Gly2426=)
5g.112843720G>TCA16038985APCc.8180G>T (p.Gly2727Val)
c.*8132G>T (n.*8132G>T)
c.8072G>T (p.Gly2691Val)
c.8126G>T (p.Gly2709Val)
c.231-12929G>T
c.8156G>T (p.Gly2719Val)
c.8051G>T (p.Gly2684Val)
c.8042G>T (p.Gly2681Val)
c.8003G>T (p.Gly2668Val)
c.7949G>T (p.Gly2650Val)
c.7853G>T (p.Gly2618Val)
c.7823G>T (p.Gly2608Val)
c.7748G>T (p.Gly2583Val)
c.7646G>T (p.Gly2549Val)
c.7277G>T (p.Gly2426Val)
 ClinVar dbSNP gnomAD v4 COSMIC
5g.112843721C>ACA446211190APCc.8181C>A (p.Gly2727=)
c.*8133C>A (n.*8133C>A)
c.8073C>A (p.Gly2691=)
c.8127C>A (p.Gly2709=)
c.231-12928C>A
c.8157C>A (p.Gly2719=)
c.8052C>A (p.Gly2684=)
c.8043C>A (p.Gly2681=)
c.8004C>A (p.Gly2668=)
c.7950C>A (p.Gly2650=)
c.7854C>A (p.Gly2618=)
c.7824C>A (p.Gly2608=)
c.7749C>A (p.Gly2583=)
c.7647C>A (p.Gly2549=)
c.7278C>A (p.Gly2426=)
 dbSNP
5g.112843721C=CA1573476223APCc.8181C= (p.Gly2727=)
c.*8133C= (n.*8133C=)
c.8073C= (p.Gly2691=)
c.8127C= (p.Gly2709=)
c.231-12928C=
c.8157C= (p.Gly2719=)
c.8052C= (p.Gly2684=)
c.8043C= (p.Gly2681=)
c.8004C= (p.Gly2668=)
c.7950C= (p.Gly2650=)
c.7854C= (p.Gly2618=)
c.7824C= (p.Gly2608=)
c.7749C= (p.Gly2583=)
c.7647C= (p.Gly2549=)
c.7278C= (p.Gly2426=)
5g.112843721C>GCA16611678APCc.8181C>G (p.Gly2727=)
c.*8133C>G (n.*8133C>G)
c.8073C>G (p.Gly2691=)
c.8127C>G (p.Gly2709=)
c.231-12928C>G
c.8157C>G (p.Gly2719=)
c.8052C>G (p.Gly2684=)
c.8043C>G (p.Gly2681=)
c.8004C>G (p.Gly2668=)
c.7950C>G (p.Gly2650=)
c.7854C>G (p.Gly2618=)
c.7824C>G (p.Gly2608=)
c.7749C>G (p.Gly2583=)
c.7647C>G (p.Gly2549=)
c.7278C>G (p.Gly2426=)
 ClinVar dbSNP
5g.112843721C>TCA446211192APCc.8181C>T (p.Gly2727=)
c.*8133C>T (n.*8133C>T)
c.8073C>T (p.Gly2691=)
c.8127C>T (p.Gly2709=)
c.231-12928C>T
c.8157C>T (p.Gly2719=)
c.8052C>T (p.Gly2684=)
c.8043C>T (p.Gly2681=)
c.8004C>T (p.Gly2668=)
c.7950C>T (p.Gly2650=)
c.7854C>T (p.Gly2618=)
c.7824C>T (p.Gly2608=)
c.7749C>T (p.Gly2583=)
c.7647C>T (p.Gly2549=)
c.7278C>T (p.Gly2426=)
 ClinVar dbSNP
5g.112843722A=CA1573476252APCc.8182A= (p.Ser2728=)
c.*8134A= (n.*8134A=)
c.8074A= (p.Ser2692=)
c.8128A= (p.Ser2710=)
c.231-12927A=
c.8158A= (p.Ser2720=)
c.8053A= (p.Ser2685=)
c.8044A= (p.Ser2682=)
c.8005A= (p.Ser2669=)
c.7951A= (p.Ser2651=)
c.7855A= (p.Ser2619=)
c.7825A= (p.Ser2609=)
c.7750A= (p.Ser2584=)
c.7648A= (p.Ser2550=)
c.7279A= (p.Ser2427=)
5g.112843722A>CCA049954APCc.8182A>C (p.Ser2728Arg)
c.*8134A>C (n.*8134A>C)
c.8074A>C (p.Ser2692Arg)
c.8128A>C (p.Ser2710Arg)
c.231-12927A>C
c.8158A>C (p.Ser2720Arg)
c.8053A>C (p.Ser2685Arg)
c.8044A>C (p.Ser2682Arg)
c.8005A>C (p.Ser2669Arg)
c.7951A>C (p.Ser2651Arg)
c.7855A>C (p.Ser2619Arg)
c.7825A>C (p.Ser2609Arg)
c.7750A>C (p.Ser2584Arg)
c.7648A>C (p.Ser2550Arg)
c.7279A>C (p.Ser2427Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112843722A>GCA16038986APCc.8182A>G (p.Ser2728Gly)
c.*8134A>G (n.*8134A>G)
c.8074A>G (p.Ser2692Gly)
c.8128A>G (p.Ser2710Gly)
c.231-12927A>G
c.8158A>G (p.Ser2720Gly)
c.8053A>G (p.Ser2685Gly)
c.8044A>G (p.Ser2682Gly)
c.8005A>G (p.Ser2669Gly)
c.7951A>G (p.Ser2651Gly)
c.7855A>G (p.Ser2619Gly)
c.7825A>G (p.Ser2609Gly)
c.7750A>G (p.Ser2584Gly)
c.7648A>G (p.Ser2550Gly)
c.7279A>G (p.Ser2427Gly)
 ClinVar dbSNP gnomAD v4
5g.112843722A>TCA16038987APCc.8182A>T (p.Ser2728Cys)
c.*8134A>T (n.*8134A>T)
c.8074A>T (p.Ser2692Cys)
c.8128A>T (p.Ser2710Cys)
c.231-12927A>T
c.8158A>T (p.Ser2720Cys)
c.8053A>T (p.Ser2685Cys)
c.8044A>T (p.Ser2682Cys)
c.8005A>T (p.Ser2669Cys)
c.7951A>T (p.Ser2651Cys)
c.7855A>T (p.Ser2619Cys)
c.7825A>T (p.Ser2609Cys)
c.7750A>T (p.Ser2584Cys)
c.7648A>T (p.Ser2550Cys)
c.7279A>T (p.Ser2427Cys)
 dbSNP
5g.112843723G>ACA16038988APCc.8183G>A (p.Ser2728Asn)
c.*8135G>A (n.*8135G>A)
c.8075G>A (p.Ser2692Asn)
c.8129G>A (p.Ser2710Asn)
c.231-12926G>A
c.8159G>A (p.Ser2720Asn)
c.8054G>A (p.Ser2685Asn)
c.8045G>A (p.Ser2682Asn)
c.8006G>A (p.Ser2669Asn)
c.7952G>A (p.Ser2651Asn)
c.7856G>A (p.Ser2619Asn)
c.7826G>A (p.Ser2609Asn)
c.7751G>A (p.Ser2584Asn)
c.7649G>A (p.Ser2550Asn)
c.7280G>A (p.Ser2427Asn)
 ClinVar dbSNP
5g.112843723G>CCA16038989APCc.8183G>C (p.Ser2728Thr)
c.*8135G>C (n.*8135G>C)
c.8075G>C (p.Ser2692Thr)
c.8129G>C (p.Ser2710Thr)
c.231-12926G>C
c.8159G>C (p.Ser2720Thr)
c.8054G>C (p.Ser2685Thr)
c.8045G>C (p.Ser2682Thr)
c.8006G>C (p.Ser2669Thr)
c.7952G>C (p.Ser2651Thr)
c.7856G>C (p.Ser2619Thr)
c.7826G>C (p.Ser2609Thr)
c.7751G>C (p.Ser2584Thr)
c.7649G>C (p.Ser2550Thr)
c.7280G>C (p.Ser2427Thr)
 dbSNP
5g.112843723G=CA1573476260APCc.8183G= (p.Ser2728=)
c.*8135G= (n.*8135G=)
c.8075G= (p.Ser2692=)
c.8129G= (p.Ser2710=)
c.231-12926G=
c.8159G= (p.Ser2720=)
c.8054G= (p.Ser2685=)
c.8045G= (p.Ser2682=)
c.8006G= (p.Ser2669=)
c.7952G= (p.Ser2651=)
c.7856G= (p.Ser2619=)
c.7826G= (p.Ser2609=)
c.7751G= (p.Ser2584=)
c.7649G= (p.Ser2550=)
c.7280G= (p.Ser2427=)
5g.112843723G>TCA16038990APCc.8183G>T (p.Ser2728Ile)
c.*8135G>T (n.*8135G>T)
c.8075G>T (p.Ser2692Ile)
c.8129G>T (p.Ser2710Ile)
c.231-12926G>T
c.8159G>T (p.Ser2720Ile)
c.8054G>T (p.Ser2685Ile)
c.8045G>T (p.Ser2682Ile)
c.8006G>T (p.Ser2669Ile)
c.7952G>T (p.Ser2651Ile)
c.7856G>T (p.Ser2619Ile)
c.7826G>T (p.Ser2609Ile)
c.7751G>T (p.Ser2584Ile)
c.7649G>T (p.Ser2550Ile)
c.7280G>T (p.Ser2427Ile)
 gnomAD v4
5g.112843724T>ACA16038991APCc.8184T>A (p.Ser2728Arg)
c.*8136T>A (n.*8136T>A)
c.8076T>A (p.Ser2692Arg)
c.8130T>A (p.Ser2710Arg)
c.231-12925T>A
c.8160T>A (p.Ser2720Arg)
c.8055T>A (p.Ser2685Arg)
c.8046T>A (p.Ser2682Arg)
c.8007T>A (p.Ser2669Arg)
c.7953T>A (p.Ser2651Arg)
c.7857T>A (p.Ser2619Arg)
c.7827T>A (p.Ser2609Arg)
c.7752T>A (p.Ser2584Arg)
c.7650T>A (p.Ser2550Arg)
c.7281T>A (p.Ser2427Arg)
 dbSNP
5g.112843724T>CCA446211194APCc.8184T>C (p.Ser2728=)
c.*8136T>C (n.*8136T>C)
c.8076T>C (p.Ser2692=)
c.8130T>C (p.Ser2710=)
c.231-12925T>C
c.8160T>C (p.Ser2720=)
c.8055T>C (p.Ser2685=)
c.8046T>C (p.Ser2682=)
c.8007T>C (p.Ser2669=)
c.7953T>C (p.Ser2651=)
c.7857T>C (p.Ser2619=)
c.7827T>C (p.Ser2609=)
c.7752T>C (p.Ser2584=)
c.7650T>C (p.Ser2550=)
c.7281T>C (p.Ser2427=)
 gnomAD v4
5g.112843724T>GCA014355APCc.8184T>G (p.Ser2728Arg)
c.*8136T>G (n.*8136T>G)
c.8076T>G (p.Ser2692Arg)
c.8130T>G (p.Ser2710Arg)
c.231-12925T>G
c.8160T>G (p.Ser2720Arg)
c.8055T>G (p.Ser2685Arg)
c.8046T>G (p.Ser2682Arg)
c.8007T>G (p.Ser2669Arg)
c.7953T>G (p.Ser2651Arg)
c.7857T>G (p.Ser2619Arg)
c.7827T>G (p.Ser2609Arg)
c.7752T>G (p.Ser2584Arg)
c.7650T>G (p.Ser2550Arg)
c.7281T>G (p.Ser2427Arg)
 ClinVar dbSNP
5g.112843724T=CA1573476271APCc.8184T= (p.Ser2728=)
c.*8136T= (n.*8136T=)
c.8076T= (p.Ser2692=)
c.8130T= (p.Ser2710=)
c.231-12925T=
c.8160T= (p.Ser2720=)
c.8055T= (p.Ser2685=)
c.8046T= (p.Ser2682=)
c.8007T= (p.Ser2669=)
c.7953T= (p.Ser2651=)
c.7857T= (p.Ser2619=)
c.7827T= (p.Ser2609=)
c.7752T= (p.Ser2584=)
c.7650T= (p.Ser2550=)
c.7281T= (p.Ser2427=)
5g.112843725G>ACA16038992APCc.8185G>A (p.Val2729Ile)
c.*8137G>A (n.*8137G>A)
c.8077G>A (p.Val2693Ile)
c.8131G>A (p.Val2711Ile)
c.231-12924G>A
c.8161G>A (p.Val2721Ile)
c.8056G>A (p.Val2686Ile)
c.8047G>A (p.Val2683Ile)
c.8008G>A (p.Val2670Ile)
c.7954G>A (p.Val2652Ile)
c.7858G>A (p.Val2620Ile)
c.7828G>A (p.Val2610Ile)
c.7753G>A (p.Val2585Ile)
c.7651G>A (p.Val2551Ile)
c.7282G>A (p.Val2428Ile)
 dbSNP
5g.112843725G>CCA16038993APCc.8185G>C (p.Val2729Leu)
c.*8137G>C (n.*8137G>C)
c.8077G>C (p.Val2693Leu)
c.8131G>C (p.Val2711Leu)
c.231-12924G>C
c.8161G>C (p.Val2721Leu)
c.8056G>C (p.Val2686Leu)
c.8047G>C (p.Val2683Leu)
c.8008G>C (p.Val2670Leu)
c.7954G>C (p.Val2652Leu)
c.7858G>C (p.Val2620Leu)
c.7828G>C (p.Val2610Leu)
c.7753G>C (p.Val2585Leu)
c.7651G>C (p.Val2551Leu)
c.7282G>C (p.Val2428Leu)
 ClinVar
5g.112843725G=CA1573476281APCc.8185G= (p.Val2729=)
c.*8137G= (n.*8137G=)
c.8077G= (p.Val2693=)
c.8131G= (p.Val2711=)
c.231-12924G=
c.8161G= (p.Val2721=)
c.8056G= (p.Val2686=)
c.8047G= (p.Val2683=)
c.8008G= (p.Val2670=)
c.7954G= (p.Val2652=)
c.7858G= (p.Val2620=)
c.7828G= (p.Val2610=)
c.7753G= (p.Val2585=)
c.7651G= (p.Val2551=)
c.7282G= (p.Val2428=)
5g.112843725G>TCA16038994APCc.8185G>T (p.Val2729Phe)
c.*8137G>T (n.*8137G>T)
c.8077G>T (p.Val2693Phe)
c.8131G>T (p.Val2711Phe)
c.231-12924G>T
c.8161G>T (p.Val2721Phe)
c.8056G>T (p.Val2686Phe)
c.8047G>T (p.Val2683Phe)
c.8008G>T (p.Val2670Phe)
c.7954G>T (p.Val2652Phe)
c.7858G>T (p.Val2620Phe)
c.7828G>T (p.Val2610Phe)
c.7753G>T (p.Val2585Phe)
c.7651G>T (p.Val2551Phe)
c.7282G>T (p.Val2428Phe)
 ClinVar dbSNP
5g.112843726T>ACA16038995APCc.8186T>A (p.Val2729Asp)
c.*8138T>A (n.*8138T>A)
c.8078T>A (p.Val2693Asp)
c.8132T>A (p.Val2711Asp)
c.231-12923T>A
c.8162T>A (p.Val2721Asp)
c.8057T>A (p.Val2686Asp)
c.8048T>A (p.Val2683Asp)
c.8009T>A (p.Val2670Asp)
c.7955T>A (p.Val2652Asp)
c.7859T>A (p.Val2620Asp)
c.7829T>A (p.Val2610Asp)
c.7754T>A (p.Val2585Asp)
c.7652T>A (p.Val2551Asp)
c.7283T>A (p.Val2428Asp)
 ClinVar dbSNP
5g.112843726T>CCA16038996APCc.8186T>C (p.Val2729Ala)
c.*8138T>C (n.*8138T>C)
c.8078T>C (p.Val2693Ala)
c.8132T>C (p.Val2711Ala)
c.231-12923T>C
c.8162T>C (p.Val2721Ala)
c.8057T>C (p.Val2686Ala)
c.8048T>C (p.Val2683Ala)
c.8009T>C (p.Val2670Ala)
c.7955T>C (p.Val2652Ala)
c.7859T>C (p.Val2620Ala)
c.7829T>C (p.Val2610Ala)
c.7754T>C (p.Val2585Ala)
c.7652T>C (p.Val2551Ala)
c.7283T>C (p.Val2428Ala)
 ClinVar dbSNP
5g.112843726T>GCA16038997APCc.8186T>G (p.Val2729Gly)
c.*8138T>G (n.*8138T>G)
c.8078T>G (p.Val2693Gly)
c.8132T>G (p.Val2711Gly)
c.231-12923T>G
c.8162T>G (p.Val2721Gly)
c.8057T>G (p.Val2686Gly)
c.8048T>G (p.Val2683Gly)
c.8009T>G (p.Val2670Gly)
c.7955T>G (p.Val2652Gly)
c.7859T>G (p.Val2620Gly)
c.7829T>G (p.Val2610Gly)
c.7754T>G (p.Val2585Gly)
c.7652T>G (p.Val2551Gly)
c.7283T>G (p.Val2428Gly)
 dbSNP
5g.112843727T>ACA446211198APCc.8187T>A (p.Val2729=)
c.*8139T>A (n.*8139T>A)
c.8079T>A (p.Val2693=)
c.8133T>A (p.Val2711=)
c.231-12922T>A
c.8163T>A (p.Val2721=)
c.8058T>A (p.Val2686=)
c.8049T>A (p.Val2683=)
c.8010T>A (p.Val2670=)
c.7956T>A (p.Val2652=)
c.7860T>A (p.Val2620=)
c.7830T>A (p.Val2610=)
c.7755T>A (p.Val2585=)
c.7653T>A (p.Val2551=)
c.7284T>A (p.Val2428=)
5g.112843727T>CCA446211199APCc.8187T>C (p.Val2729=)
c.*8139T>C (n.*8139T>C)
c.8079T>C (p.Val2693=)
c.8133T>C (p.Val2711=)
c.231-12922T>C
c.8163T>C (p.Val2721=)
c.8058T>C (p.Val2686=)
c.8049T>C (p.Val2683=)
c.8010T>C (p.Val2670=)
c.7956T>C (p.Val2652=)
c.7860T>C (p.Val2620=)
c.7830T>C (p.Val2610=)
c.7755T>C (p.Val2585=)
c.7653T>C (p.Val2551=)
c.7284T>C (p.Val2428=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112843727T>GCA446211201APCc.8187T>G (p.Val2729=)
c.*8139T>G (n.*8139T>G)
c.8079T>G (p.Val2693=)
c.8133T>G (p.Val2711=)
c.231-12922T>G
c.8163T>G (p.Val2721=)
c.8058T>G (p.Val2686=)
c.8049T>G (p.Val2683=)
c.8010T>G (p.Val2670=)
c.7956T>G (p.Val2652=)
c.7860T>G (p.Val2620=)
c.7830T>G (p.Val2610=)
c.7755T>G (p.Val2585=)
c.7653T>G (p.Val2551=)
c.7284T>G (p.Val2428=)
5g.112843727T=CA1573476286APCc.8187T= (p.Val2729=)
c.*8139T= (n.*8139T=)
c.8079T= (p.Val2693=)
c.8133T= (p.Val2711=)
c.231-12922T=
c.8163T= (p.Val2721=)
c.8058T= (p.Val2686=)
c.8049T= (p.Val2683=)
c.8010T= (p.Val2670=)
c.7956T= (p.Val2652=)
c.7860T= (p.Val2620=)
c.7830T= (p.Val2610=)
c.7755T= (p.Val2585=)
c.7653T= (p.Val2551=)
c.7284T= (p.Val2428=)
5g.112843728C>ACA16038998APCc.8188C>A (p.Pro2730Thr)
c.*8140C>A (n.*8140C>A)
c.8080C>A (p.Pro2694Thr)
c.8134C>A (p.Pro2712Thr)
c.231-12921C>A
c.8164C>A (p.Pro2722Thr)
c.8059C>A (p.Pro2687Thr)
c.8050C>A (p.Pro2684Thr)
c.8011C>A (p.Pro2671Thr)
c.7957C>A (p.Pro2653Thr)
c.7861C>A (p.Pro2621Thr)
c.7831C>A (p.Pro2611Thr)
c.7756C>A (p.Pro2586Thr)
c.7654C>A (p.Pro2552Thr)
c.7285C>A (p.Pro2429Thr)
 dbSNP
5g.112843728C=CA1573476292APCc.8188C= (p.Pro2730=)
c.*8140C= (n.*8140C=)
c.8080C= (p.Pro2694=)
c.8134C= (p.Pro2712=)
c.231-12921C=
c.8164C= (p.Pro2722=)
c.8059C= (p.Pro2687=)
c.8050C= (p.Pro2684=)
c.8011C= (p.Pro2671=)
c.7957C= (p.Pro2653=)
c.7861C= (p.Pro2621=)
c.7831C= (p.Pro2611=)
c.7756C= (p.Pro2586=)
c.7654C= (p.Pro2552=)
c.7285C= (p.Pro2429=)
5g.112843728C>GCA049967APCc.8188C>G (p.Pro2730Ala)
c.*8140C>G (n.*8140C>G)
c.8080C>G (p.Pro2694Ala)
c.8134C>G (p.Pro2712Ala)
c.231-12921C>G
c.8164C>G (p.Pro2722Ala)
c.8059C>G (p.Pro2687Ala)
c.8050C>G (p.Pro2684Ala)
c.8011C>G (p.Pro2671Ala)
c.7957C>G (p.Pro2653Ala)
c.7861C>G (p.Pro2621Ala)
c.7831C>G (p.Pro2611Ala)
c.7756C>G (p.Pro2586Ala)
c.7654C>G (p.Pro2552Ala)
c.7285C>G (p.Pro2429Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112843728C>TCA014364APCc.8188C>T (p.Pro2730Ser)
c.*8140C>T (n.*8140C>T)
c.8080C>T (p.Pro2694Ser)
c.8134C>T (p.Pro2712Ser)
c.231-12921C>T
c.8164C>T (p.Pro2722Ser)
c.8059C>T (p.Pro2687Ser)
c.8050C>T (p.Pro2684Ser)
c.8011C>T (p.Pro2671Ser)
c.7957C>T (p.Pro2653Ser)
c.7861C>T (p.Pro2621Ser)
c.7831C>T (p.Pro2611Ser)
c.7756C>T (p.Pro2586Ser)
c.7654C>T (p.Pro2552Ser)
c.7285C>T (p.Pro2429Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112843730delCA2580610693APCc.8190del (p.Met2731CysfsTer10)
c.*8142del (n.*8142del)
c.8082del (p.Met2695CysfsTer10)
c.8136del (p.Met2713CysfsTer10)
c.231-12919del
c.8166del (p.Met2723CysfsTer10)
c.8061del (p.Met2688CysfsTer10)
c.8052del (p.Met2685CysfsTer10)
c.8013del (p.Met2672CysfsTer10)
c.7959del (p.Met2654CysfsTer10)
c.7863del (p.Met2622CysfsTer10)
c.7833del (p.Met2612CysfsTer10)
c.7758del (p.Met2587CysfsTer10)
c.7656del (p.Met2553CysfsTer10)
c.7287del (p.Met2430CysfsTer10)
5g.112843729C>ACA16038999APCc.8189C>A (p.Pro2730His)
c.*8141C>A (n.*8141C>A)
c.8081C>A (p.Pro2694His)
c.8135C>A (p.Pro2712His)
c.231-12920C>A
c.8165C>A (p.Pro2722His)
c.8060C>A (p.Pro2687His)
c.8051C>A (p.Pro2684His)
c.8012C>A (p.Pro2671His)
c.7958C>A (p.Pro2653His)
c.7862C>A (p.Pro2621His)
c.7832C>A (p.Pro2611His)
c.7757C>A (p.Pro2586His)
c.7655C>A (p.Pro2552His)
c.7286C>A (p.Pro2429His)
 dbSNP
5g.112843729C=CA1573476297APCc.8189C= (p.Pro2730=)
c.*8141C= (n.*8141C=)
c.8081C= (p.Pro2694=)
c.8135C= (p.Pro2712=)
c.231-12920C=
c.8165C= (p.Pro2722=)
c.8060C= (p.Pro2687=)
c.8051C= (p.Pro2684=)
c.8012C= (p.Pro2671=)
c.7958C= (p.Pro2653=)
c.7862C= (p.Pro2621=)
c.7832C= (p.Pro2611=)
c.7757C= (p.Pro2586=)
c.7655C= (p.Pro2552=)
c.7286C= (p.Pro2429=)
5g.112843729C>GCA16039000APCc.8189C>G (p.Pro2730Arg)
c.*8141C>G (n.*8141C>G)
c.8081C>G (p.Pro2694Arg)
c.8135C>G (p.Pro2712Arg)
c.231-12920C>G
c.8165C>G (p.Pro2722Arg)
c.8060C>G (p.Pro2687Arg)
c.8051C>G (p.Pro2684Arg)
c.8012C>G (p.Pro2671Arg)
c.7958C>G (p.Pro2653Arg)
c.7862C>G (p.Pro2621Arg)
c.7832C>G (p.Pro2611Arg)
c.7757C>G (p.Pro2586Arg)
c.7655C>G (p.Pro2552Arg)
c.7286C>G (p.Pro2429Arg)
 dbSNP
5g.112843729C>TCA16039001APCc.8189C>T (p.Pro2730Leu)
c.*8141C>T (n.*8141C>T)
c.8081C>T (p.Pro2694Leu)
c.8135C>T (p.Pro2712Leu)
c.231-12920C>T
c.8165C>T (p.Pro2722Leu)
c.8060C>T (p.Pro2687Leu)
c.8051C>T (p.Pro2684Leu)
c.8012C>T (p.Pro2671Leu)
c.7958C>T (p.Pro2653Leu)
c.7862C>T (p.Pro2621Leu)
c.7832C>T (p.Pro2611Leu)
c.7757C>T (p.Pro2586Leu)
c.7655C>T (p.Pro2552Leu)
c.7286C>T (p.Pro2429Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112843730C>ACA446211203APCc.8190C>A (p.Pro2730=)
c.*8142C>A (n.*8142C>A)
c.8082C>A (p.Pro2694=)
c.8136C>A (p.Pro2712=)
c.231-12919C>A
c.8166C>A (p.Pro2722=)
c.8061C>A (p.Pro2687=)
c.8052C>A (p.Pro2684=)
c.8013C>A (p.Pro2671=)
c.7959C>A (p.Pro2653=)
c.7863C>A (p.Pro2621=)
c.7833C>A (p.Pro2611=)
c.7758C>A (p.Pro2586=)
c.7656C>A (p.Pro2552=)
c.7287C>A (p.Pro2429=)
 dbSNP
5g.112843730C>GCA446211204APCc.8190C>G (p.Pro2730=)
c.*8142C>G (n.*8142C>G)
c.8082C>G (p.Pro2694=)
c.8136C>G (p.Pro2712=)
c.231-12919C>G
c.8166C>G (p.Pro2722=)
c.8061C>G (p.Pro2687=)
c.8052C>G (p.Pro2684=)
c.8013C>G (p.Pro2671=)
c.7959C>G (p.Pro2653=)
c.7863C>G (p.Pro2621=)
c.7833C>G (p.Pro2611=)
c.7758C>G (p.Pro2586=)
c.7656C>G (p.Pro2552=)
c.7287C>G (p.Pro2429=)
 dbSNP
5g.112843730C>TCA446211205APCc.8190C>T (p.Pro2730=)
c.*8142C>T (n.*8142C>T)
c.8082C>T (p.Pro2694=)
c.8136C>T (p.Pro2712=)
c.231-12919C>T
c.8166C>T (p.Pro2722=)
c.8061C>T (p.Pro2687=)
c.8052C>T (p.Pro2684=)
c.8013C>T (p.Pro2671=)
c.7959C>T (p.Pro2653=)
c.7863C>T (p.Pro2621=)
c.7833C>T (p.Pro2611=)
c.7758C>T (p.Pro2586=)
c.7656C>T (p.Pro2552=)
c.7287C>T (p.Pro2429=)
 ClinVar dbSNP gnomAD v4
5g.112843731A=CA1573476320APCc.8191A= (p.Met2731=)
c.*8143A= (n.*8143A=)
c.8083A= (p.Met2695=)
c.8137A= (p.Met2713=)
c.231-12918A=
c.8167A= (p.Met2723=)
c.8062A= (p.Met2688=)
c.8053A= (p.Met2685=)
c.8014A= (p.Met2672=)
c.7960A= (p.Met2654=)
c.7864A= (p.Met2622=)
c.7834A= (p.Met2612=)
c.7759A= (p.Met2587=)
c.7657A= (p.Met2553=)
c.7288A= (p.Met2430=)
5g.112843731A>CCA014373APCc.8191A>C (p.Met2731Leu)
c.*8143A>C (n.*8143A>C)
c.8083A>C (p.Met2695Leu)
c.8137A>C (p.Met2713Leu)
c.231-12918A>C
c.8167A>C (p.Met2723Leu)
c.8062A>C (p.Met2688Leu)
c.8053A>C (p.Met2685Leu)
c.8014A>C (p.Met2672Leu)
c.7960A>C (p.Met2654Leu)
c.7864A>C (p.Met2622Leu)
c.7834A>C (p.Met2612Leu)
c.7759A>C (p.Met2587Leu)
c.7657A>C (p.Met2553Leu)
c.7288A>C (p.Met2430Leu)
 ClinVar dbSNP
5g.112843731A>GCA16039002APCc.8191A>G (p.Met2731Val)
c.*8143A>G (n.*8143A>G)
c.8083A>G (p.Met2695Val)
c.8137A>G (p.Met2713Val)
c.231-12918A>G
c.8167A>G (p.Met2723Val)
c.8062A>G (p.Met2688Val)
c.8053A>G (p.Met2685Val)
c.8014A>G (p.Met2672Val)
c.7960A>G (p.Met2654Val)
c.7864A>G (p.Met2622Val)
c.7834A>G (p.Met2612Val)
c.7759A>G (p.Met2587Val)
c.7657A>G (p.Met2553Val)
c.7288A>G (p.Met2430Val)
 ClinVar dbSNP
5g.112843731A>TCA16039003APCc.8191A>T (p.Met2731Leu)
c.*8143A>T (n.*8143A>T)
c.8083A>T (p.Met2695Leu)
c.8137A>T (p.Met2713Leu)
c.231-12918A>T
c.8167A>T (p.Met2723Leu)
c.8062A>T (p.Met2688Leu)
c.8053A>T (p.Met2685Leu)
c.8014A>T (p.Met2672Leu)
c.7960A>T (p.Met2654Leu)
c.7864A>T (p.Met2622Leu)
c.7834A>T (p.Met2612Leu)
c.7759A>T (p.Met2587Leu)
c.7657A>T (p.Met2553Leu)
c.7288A>T (p.Met2430Leu)
 dbSNP gnomAD v4
5g.112843732T>ACA16039004APCc.8192T>A (p.Met2731Lys)
c.*8144T>A (n.*8144T>A)
c.8084T>A (p.Met2695Lys)
c.8138T>A (p.Met2713Lys)
c.231-12917T>A
c.8168T>A (p.Met2723Lys)
c.8063T>A (p.Met2688Lys)
c.8054T>A (p.Met2685Lys)
c.8015T>A (p.Met2672Lys)
c.7961T>A (p.Met2654Lys)
c.7865T>A (p.Met2622Lys)
c.7835T>A (p.Met2612Lys)
c.7760T>A (p.Met2587Lys)
c.7658T>A (p.Met2553Lys)
c.7289T>A (p.Met2430Lys)
 dbSNP
5g.112843732T>CCA16039005APCc.8192T>C (p.Met2731Thr)
c.*8144T>C (n.*8144T>C)
c.8084T>C (p.Met2695Thr)
c.8138T>C (p.Met2713Thr)
c.231-12917T>C
c.8168T>C (p.Met2723Thr)
c.8063T>C (p.Met2688Thr)
c.8054T>C (p.Met2685Thr)
c.8015T>C (p.Met2672Thr)
c.7961T>C (p.Met2654Thr)
c.7865T>C (p.Met2622Thr)
c.7835T>C (p.Met2612Thr)
c.7760T>C (p.Met2587Thr)
c.7658T>C (p.Met2553Thr)
c.7289T>C (p.Met2430Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112843732T>GCA16039006APCc.8192T>G (p.Met2731Arg)
c.*8144T>G (n.*8144T>G)
c.8084T>G (p.Met2695Arg)
c.8138T>G (p.Met2713Arg)
c.231-12917T>G
c.8168T>G (p.Met2723Arg)
c.8063T>G (p.Met2688Arg)
c.8054T>G (p.Met2685Arg)
c.8015T>G (p.Met2672Arg)
c.7961T>G (p.Met2654Arg)
c.7865T>G (p.Met2622Arg)
c.7835T>G (p.Met2612Arg)
c.7760T>G (p.Met2587Arg)
c.7658T>G (p.Met2553Arg)
c.7289T>G (p.Met2430Arg)
 ClinVar dbSNP
5g.112843732T=CA1573476326APCc.8192T= (p.Met2731=)
c.*8144T= (n.*8144T=)
c.8084T= (p.Met2695=)
c.8138T= (p.Met2713=)
c.231-12917T=
c.8168T= (p.Met2723=)
c.8063T= (p.Met2688=)
c.8054T= (p.Met2685=)
c.8015T= (p.Met2672=)
c.7961T= (p.Met2654=)
c.7865T= (p.Met2622=)
c.7835T= (p.Met2612=)
c.7760T= (p.Met2587=)
c.7658T= (p.Met2553=)
c.7289T= (p.Met2430=)
5g.112843732_112843734delinsTGCCA1573476327APCc.8192_8194delinsTGC (p.Met2731=)
c.*8144_*8146delinsTGC (n.*8144_*8146delinsTGC)
c.8084_8086delinsTGC (p.Met2695=)
c.8138_8140delinsTGC (p.Met2713=)
c.231-12917_231-12915delinsTGC
c.8168_8170delinsTGC (p.Met2723=)
c.8063_8065delinsTGC (p.Met2688=)
c.8054_8056delinsTGC (p.Met2685=)
c.8015_8017delinsTGC (p.Met2672=)
c.7961_7963delinsTGC (p.Met2654=)
c.7865_7867delinsTGC (p.Met2622=)
c.7835_7837delinsTGC (p.Met2612=)
c.7760_7762delinsTGC (p.Met2587=)
c.7658_7660delinsTGC (p.Met2553=)
c.7289_7291delinsTGC (p.Met2430=)
5g.112843733G>ACA16039007APCc.8193G>A (p.Met2731Ile)
c.*8145G>A (n.*8145G>A)
c.8085G>A (p.Met2695Ile)
c.8139G>A (p.Met2713Ile)
c.231-12916G>A
c.8169G>A (p.Met2723Ile)
c.8064G>A (p.Met2688Ile)
c.8055G>A (p.Met2685Ile)
c.8016G>A (p.Met2672Ile)
c.7962G>A (p.Met2654Ile)
c.7866G>A (p.Met2622Ile)
c.7836G>A (p.Met2612Ile)
c.7761G>A (p.Met2587Ile)
c.7659G>A (p.Met2553Ile)
c.7290G>A (p.Met2430Ile)
 ClinVar dbSNP
5g.112843733G>CCA16039008APCc.8193G>C (p.Met2731Ile)
c.*8145G>C (n.*8145G>C)
c.8085G>C (p.Met2695Ile)
c.8139G>C (p.Met2713Ile)
c.231-12916G>C
c.8169G>C (p.Met2723Ile)
c.8064G>C (p.Met2688Ile)
c.8055G>C (p.Met2685Ile)
c.8016G>C (p.Met2672Ile)
c.7962G>C (p.Met2654Ile)
c.7866G>C (p.Met2622Ile)
c.7836G>C (p.Met2612Ile)
c.7761G>C (p.Met2587Ile)
c.7659G>C (p.Met2553Ile)
c.7290G>C (p.Met2430Ile)
 dbSNP
5g.112843733G=CA1573476362APCc.8193G= (p.Met2731=)
c.*8145G= (n.*8145G=)
c.8085G= (p.Met2695=)
c.8139G= (p.Met2713=)
c.231-12916G=
c.8169G= (p.Met2723=)
c.8064G= (p.Met2688=)
c.8055G= (p.Met2685=)
c.8016G= (p.Met2672=)
c.7962G= (p.Met2654=)
c.7866G= (p.Met2622=)
c.7836G= (p.Met2612=)
c.7761G= (p.Met2587=)
c.7659G= (p.Met2553=)
c.7290G= (p.Met2430=)
5g.112843733G>TCA16039009APCc.8193G>T (p.Met2731Ile)
c.*8145G>T (n.*8145G>T)
c.8085G>T (p.Met2695Ile)
c.8139G>T (p.Met2713Ile)
c.231-12916G>T
c.8169G>T (p.Met2723Ile)
c.8064G>T (p.Met2688Ile)
c.8055G>T (p.Met2685Ile)
c.8016G>T (p.Met2672Ile)
c.7962G>T (p.Met2654Ile)
c.7866G>T (p.Met2622Ile)
c.7836G>T (p.Met2612Ile)
c.7761G>T (p.Met2587Ile)
c.7659G>T (p.Met2553Ile)
c.7290G>T (p.Met2430Ile)
 ClinVar dbSNP
5g.112843734_112843735delCA891843091APCc.8194_8195del (p.Arg2732TyrfsTer18)
c.*8146_*8147del (n.*8146_*8147del)
c.8086_8087del (p.Arg2696TyrfsTer18)
c.8140_8141del (p.Arg2714TyrfsTer18)
c.231-12915_231-12914del
c.8170_8171del (p.Arg2724TyrfsTer18)
c.8065_8066del (p.Arg2689TyrfsTer18)
c.8056_8057del (p.Arg2686TyrfsTer18)
c.8017_8018del (p.Arg2673TyrfsTer18)
c.7963_7964del (p.Arg2655TyrfsTer18)
c.7867_7868del (p.Arg2623TyrfsTer18)
c.7837_7838del (p.Arg2613TyrfsTer18)
c.7762_7763del (p.Arg2588TyrfsTer18)
c.7660_7661del (p.Arg2554TyrfsTer18)
c.7291_7292del (p.Arg2431TyrfsTer18)
 ClinVar dbSNP
5g.112843734C>ACA349337APCc.8194C>A (p.Arg2732Ser)
c.*8146C>A (n.*8146C>A)
c.8086C>A (p.Arg2696Ser)
c.8140C>A (p.Arg2714Ser)
c.231-12915C>A
c.8170C>A (p.Arg2724Ser)
c.8065C>A (p.Arg2689Ser)
c.8056C>A (p.Arg2686Ser)
c.8017C>A (p.Arg2673Ser)
c.7963C>A (p.Arg2655Ser)
c.7867C>A (p.Arg2623Ser)
c.7837C>A (p.Arg2613Ser)
c.7762C>A (p.Arg2588Ser)
c.7660C>A (p.Arg2554Ser)
c.7291C>A (p.Arg2431Ser)
 ClinVar dbSNP gnomAD v4
5g.112843734C=CA1573476369APCc.8194C= (p.Arg2732=)
c.*8146C= (n.*8146C=)
c.8086C= (p.Arg2696=)
c.8140C= (p.Arg2714=)
c.231-12915C=
c.8170C= (p.Arg2724=)
c.8065C= (p.Arg2689=)
c.8056C= (p.Arg2686=)
c.8017C= (p.Arg2673=)
c.7963C= (p.Arg2655=)
c.7867C= (p.Arg2623=)
c.7837C= (p.Arg2613=)
c.7762C= (p.Arg2588=)
c.7660C= (p.Arg2554=)
c.7291C= (p.Arg2431=)
5g.112843734C>GCA16039010APCc.8194C>G (p.Arg2732Gly)
c.*8146C>G (n.*8146C>G)
c.8086C>G (p.Arg2696Gly)
c.8140C>G (p.Arg2714Gly)
c.231-12915C>G
c.8170C>G (p.Arg2724Gly)
c.8065C>G (p.Arg2689Gly)
c.8056C>G (p.Arg2686Gly)
c.8017C>G (p.Arg2673Gly)
c.7963C>G (p.Arg2655Gly)
c.7867C>G (p.Arg2623Gly)
c.7837C>G (p.Arg2613Gly)
c.7762C>G (p.Arg2588Gly)
c.7660C>G (p.Arg2554Gly)
c.7291C>G (p.Arg2431Gly)
 ClinVar dbSNP
5g.112843734C>TCA10578457APCc.8194C>T (p.Arg2732Cys)
c.*8146C>T (n.*8146C>T)
c.8086C>T (p.Arg2696Cys)
c.8140C>T (p.Arg2714Cys)
c.231-12915C>T
c.8170C>T (p.Arg2724Cys)
c.8065C>T (p.Arg2689Cys)
c.8056C>T (p.Arg2686Cys)
c.8017C>T (p.Arg2673Cys)
c.7963C>T (p.Arg2655Cys)
c.7867C>T (p.Arg2623Cys)
c.7837C>T (p.Arg2613Cys)
c.7762C>T (p.Arg2588Cys)
c.7660C>T (p.Arg2554Cys)
c.7291C>T (p.Arg2431Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.112843735G>ACA049981APCc.8195G>A (p.Arg2732His)
c.*8147G>A (n.*8147G>A)
c.8087G>A (p.Arg2696His)
c.8141G>A (p.Arg2714His)
c.231-12914G>A
c.8171G>A (p.Arg2724His)
c.8066G>A (p.Arg2689His)
c.8057G>A (p.Arg2686His)
c.8018G>A (p.Arg2673His)
c.7964G>A (p.Arg2655His)
c.7868G>A (p.Arg2623His)
c.7838G>A (p.Arg2613His)
c.7763G>A (p.Arg2588His)
c.7661G>A (p.Arg2554His)
c.7292G>A (p.Arg2431His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.112843735G>CCA16039011APCc.8195G>C (p.Arg2732Pro)
c.*8147G>C (n.*8147G>C)
c.8087G>C (p.Arg2696Pro)
c.8141G>C (p.Arg2714Pro)
c.231-12914G>C
c.8171G>C (p.Arg2724Pro)
c.8066G>C (p.Arg2689Pro)
c.8057G>C (p.Arg2686Pro)
c.8018G>C (p.Arg2673Pro)
c.7964G>C (p.Arg2655Pro)
c.7868G>C (p.Arg2623Pro)
c.7838G>C (p.Arg2613Pro)
c.7763G>C (p.Arg2588Pro)
c.7661G>C (p.Arg2554Pro)
c.7292G>C (p.Arg2431Pro)
 dbSNP gnomAD v4
5g.112843735G=CA1573476388APCc.8195G= (p.Arg2732=)
c.*8147G= (n.*8147G=)
c.8087G= (p.Arg2696=)
c.8141G= (p.Arg2714=)
c.231-12914G=
c.8171G= (p.Arg2724=)
c.8066G= (p.Arg2689=)
c.8057G= (p.Arg2686=)
c.8018G= (p.Arg2673=)
c.7964G= (p.Arg2655=)
c.7868G= (p.Arg2623=)
c.7838G= (p.Arg2613=)
c.7763G= (p.Arg2588=)
c.7661G= (p.Arg2554=)
c.7292G= (p.Arg2431=)
5g.112843735G>TCA16039012APCc.8195G>T (p.Arg2732Leu)
c.*8147G>T (n.*8147G>T)
c.8087G>T (p.Arg2696Leu)
c.8141G>T (p.Arg2714Leu)
c.231-12914G>T
c.8171G>T (p.Arg2724Leu)
c.8066G>T (p.Arg2689Leu)
c.8057G>T (p.Arg2686Leu)
c.8018G>T (p.Arg2673Leu)
c.7964G>T (p.Arg2655Leu)
c.7868G>T (p.Arg2623Leu)
c.7838G>T (p.Arg2613Leu)
c.7763G>T (p.Arg2588Leu)
c.7661G>T (p.Arg2554Leu)
c.7292G>T (p.Arg2431Leu)
 dbSNP
5g.112843736T>ACA446211210APCc.8196T>A (p.Arg2732=)
c.*8148T>A (n.*8148T>A)
c.8088T>A (p.Arg2696=)
c.8142T>A (p.Arg2714=)
c.231-12913T>A
c.8172T>A (p.Arg2724=)
c.8067T>A (p.Arg2689=)
c.8058T>A (p.Arg2686=)
c.8019T>A (p.Arg2673=)
c.7965T>A (p.Arg2655=)
c.7869T>A (p.Arg2623=)
c.7839T>A (p.Arg2613=)
c.7764T>A (p.Arg2588=)
c.7662T>A (p.Arg2554=)
c.7293T>A (p.Arg2431=)
 dbSNP
5g.112843736T>CCA446211211APCc.8196T>C (p.Arg2732=)
c.*8148T>C (n.*8148T>C)
c.8088T>C (p.Arg2696=)
c.8142T>C (p.Arg2714=)
c.231-12913T>C
c.8172T>C (p.Arg2724=)
c.8067T>C (p.Arg2689=)
c.8058T>C (p.Arg2686=)
c.8019T>C (p.Arg2673=)
c.7965T>C (p.Arg2655=)
c.7869T>C (p.Arg2623=)
c.7839T>C (p.Arg2613=)
c.7764T>C (p.Arg2588=)
c.7662T>C (p.Arg2554=)
c.7293T>C (p.Arg2431=)
 dbSNP
5g.112843736T>GCA446211209APCc.8196T>G (p.Arg2732=)
c.*8148T>G (n.*8148T>G)
c.8088T>G (p.Arg2696=)
c.8142T>G (p.Arg2714=)
c.231-12913T>G
c.8172T>G (p.Arg2724=)
c.8067T>G (p.Arg2689=)
c.8058T>G (p.Arg2686=)
c.8019T>G (p.Arg2673=)
c.7965T>G (p.Arg2655=)
c.7869T>G (p.Arg2623=)
c.7839T>G (p.Arg2613=)
c.7764T>G (p.Arg2588=)
c.7662T>G (p.Arg2554=)
c.7293T>G (p.Arg2431=)
 dbSNP
5g.112843737A=CA1573476416APCc.8197A= (p.Thr2733=)
c.*8149A= (n.*8149A=)
c.8089A= (p.Thr2697=)
c.8143A= (p.Thr2715=)
c.231-12912A=
c.8173A= (p.Thr2725=)
c.8068A= (p.Thr2690=)
c.8059A= (p.Thr2687=)
c.8020A= (p.Thr2674=)
c.7966A= (p.Thr2656=)
c.7870A= (p.Thr2624=)
c.7840A= (p.Thr2614=)
c.7765A= (p.Thr2589=)
c.7663A= (p.Thr2555=)
c.7294A= (p.Thr2432=)
5g.112843737A>CCA16039013APCc.8197A>C (p.Thr2733Pro)
c.*8149A>C (n.*8149A>C)
c.8089A>C (p.Thr2697Pro)
c.8143A>C (p.Thr2715Pro)
c.231-12912A>C
c.8173A>C (p.Thr2725Pro)
c.8068A>C (p.Thr2690Pro)
c.8059A>C (p.Thr2687Pro)
c.8020A>C (p.Thr2674Pro)
c.7966A>C (p.Thr2656Pro)
c.7870A>C (p.Thr2624Pro)
c.7840A>C (p.Thr2614Pro)
c.7765A>C (p.Thr2589Pro)
c.7663A>C (p.Thr2555Pro)
c.7294A>C (p.Thr2432Pro)
 dbSNP gnomAD v4
5g.112843737A>GCA16039014APCc.8197A>G (p.Thr2733Ala)
c.*8149A>G (n.*8149A>G)
c.8089A>G (p.Thr2697Ala)
c.8143A>G (p.Thr2715Ala)
c.231-12912A>G
c.8173A>G (p.Thr2725Ala)
c.8068A>G (p.Thr2690Ala)
c.8059A>G (p.Thr2687Ala)
c.8020A>G (p.Thr2674Ala)
c.7966A>G (p.Thr2656Ala)
c.7870A>G (p.Thr2624Ala)
c.7840A>G (p.Thr2614Ala)
c.7765A>G (p.Thr2589Ala)
c.7663A>G (p.Thr2555Ala)
c.7294A>G (p.Thr2432Ala)
 ClinVar dbSNP
5g.112843737A>TCA16039015APCc.8197A>T (p.Thr2733Ser)
c.*8149A>T (n.*8149A>T)
c.8089A>T (p.Thr2697Ser)
c.8143A>T (p.Thr2715Ser)
c.231-12912A>T
c.8173A>T (p.Thr2725Ser)
c.8068A>T (p.Thr2690Ser)
c.8059A>T (p.Thr2687Ser)
c.8020A>T (p.Thr2674Ser)
c.7966A>T (p.Thr2656Ser)
c.7870A>T (p.Thr2624Ser)
c.7840A>T (p.Thr2614Ser)
c.7765A>T (p.Thr2589Ser)
c.7663A>T (p.Thr2555Ser)
c.7294A>T (p.Thr2432Ser)
5g.112843738C>ACA16039016APCc.8198C>A (p.Thr2733Asn)
c.*8150C>A (n.*8150C>A)
c.8090C>A (p.Thr2697Asn)
c.8144C>A (p.Thr2715Asn)
c.231-12911C>A
c.8174C>A (p.Thr2725Asn)
c.8069C>A (p.Thr2690Asn)
c.8060C>A (p.Thr2687Asn)
c.8021C>A (p.Thr2674Asn)
c.7967C>A (p.Thr2656Asn)
c.7871C>A (p.Thr2624Asn)
c.7841C>A (p.Thr2614Asn)
c.7766C>A (p.Thr2589Asn)
c.7664C>A (p.Thr2555Asn)
c.7295C>A (p.Thr2432Asn)
 dbSNP
5g.112843738C=CA1573476420APCc.8198C= (p.Thr2733=)
c.*8150C= (n.*8150C=)
c.8090C= (p.Thr2697=)
c.8144C= (p.Thr2715=)
c.231-12911C=
c.8174C= (p.Thr2725=)
c.8069C= (p.Thr2690=)
c.8060C= (p.Thr2687=)
c.8021C= (p.Thr2674=)
c.7967C= (p.Thr2656=)
c.7871C= (p.Thr2624=)
c.7841C= (p.Thr2614=)
c.7766C= (p.Thr2589=)
c.7664C= (p.Thr2555=)
c.7295C= (p.Thr2432=)
5g.112843738C>GCA16039017APCc.8198C>G (p.Thr2733Ser)
c.*8150C>G (n.*8150C>G)
c.8090C>G (p.Thr2697Ser)
c.8144C>G (p.Thr2715Ser)
c.231-12911C>G
c.8174C>G (p.Thr2725Ser)
c.8069C>G (p.Thr2690Ser)
c.8060C>G (p.Thr2687Ser)
c.8021C>G (p.Thr2674Ser)
c.7967C>G (p.Thr2656Ser)
c.7871C>G (p.Thr2624Ser)
c.7841C>G (p.Thr2614Ser)
c.7766C>G (p.Thr2589Ser)
c.7664C>G (p.Thr2555Ser)
c.7295C>G (p.Thr2432Ser)
 dbSNP
5g.112843738C>TCA014384APCc.8198C>T (p.Thr2733Ile)
c.*8150C>T (n.*8150C>T)
c.8090C>T (p.Thr2697Ile)
c.8144C>T (p.Thr2715Ile)
c.231-12911C>T
c.8174C>T (p.Thr2725Ile)
c.8069C>T (p.Thr2690Ile)
c.8060C>T (p.Thr2687Ile)
c.8021C>T (p.Thr2674Ile)
c.7967C>T (p.Thr2656Ile)
c.7871C>T (p.Thr2624Ile)
c.7841C>T (p.Thr2614Ile)
c.7766C>T (p.Thr2589Ile)
c.7664C>T (p.Thr2555Ile)
c.7295C>T (p.Thr2432Ile)
 ClinVar dbSNP
5g.112843739C>ACA446211213APCc.8199C>A (p.Thr2733=)
c.*8151C>A (n.*8151C>A)
c.8091C>A (p.Thr2697=)
c.8145C>A (p.Thr2715=)
c.231-12910C>A
c.8175C>A (p.Thr2725=)
c.8070C>A (p.Thr2690=)
c.8061C>A (p.Thr2687=)
c.8022C>A (p.Thr2674=)
c.7968C>A (p.Thr2656=)
c.7872C>A (p.Thr2624=)
c.7842C>A (p.Thr2614=)
c.7767C>A (p.Thr2589=)
c.7665C>A (p.Thr2555=)
c.7296C>A (p.Thr2432=)
 dbSNP
5g.112843739C=CA1573476424APCc.8199C= (p.Thr2733=)
c.*8151C= (n.*8151C=)
c.8091C= (p.Thr2697=)
c.8145C= (p.Thr2715=)
c.231-12910C=
c.8175C= (p.Thr2725=)
c.8070C= (p.Thr2690=)
c.8061C= (p.Thr2687=)
c.8022C= (p.Thr2674=)
c.7968C= (p.Thr2656=)
c.7872C= (p.Thr2624=)
c.7842C= (p.Thr2614=)
c.7767C= (p.Thr2589=)
c.7665C= (p.Thr2555=)
c.7296C= (p.Thr2432=)
5g.112843739C>GCA446211214APCc.8199C>G (p.Thr2733=)
c.*8151C>G (n.*8151C>G)
c.8091C>G (p.Thr2697=)
c.8145C>G (p.Thr2715=)
c.231-12910C>G
c.8175C>G (p.Thr2725=)
c.8070C>G (p.Thr2690=)
c.8061C>G (p.Thr2687=)
c.8022C>G (p.Thr2674=)
c.7968C>G (p.Thr2656=)
c.7872C>G (p.Thr2624=)
c.7842C>G (p.Thr2614=)
c.7767C>G (p.Thr2589=)
c.7665C>G (p.Thr2555=)
c.7296C>G (p.Thr2432=)
 dbSNP
5g.112843739C>TCA446211215APCc.8199C>T (p.Thr2733=)
c.*8151C>T (n.*8151C>T)
c.8091C>T (p.Thr2697=)
c.8145C>T (p.Thr2715=)
c.231-12910C>T
c.8175C>T (p.Thr2725=)
c.8070C>T (p.Thr2690=)
c.8061C>T (p.Thr2687=)
c.8022C>T (p.Thr2674=)
c.7968C>T (p.Thr2656=)
c.7872C>T (p.Thr2624=)
c.7842C>T (p.Thr2614=)
c.7767C>T (p.Thr2589=)
c.7665C>T (p.Thr2555=)
c.7296C>T (p.Thr2432=)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
5g.112843740G>ACA014393APCc.8200G>A (p.Val2734Met)
c.*8152G>A (n.*8152G>A)
c.8092G>A (p.Val2698Met)
c.8146G>A (p.Val2716Met)
c.231-12909G>A
c.8176G>A (p.Val2726Met)
c.8071G>A (p.Val2691Met)
c.8062G>A (p.Val2688Met)
c.8023G>A (p.Val2675Met)
c.7969G>A (p.Val2657Met)
c.7873G>A (p.Val2625Met)
c.7843G>A (p.Val2615Met)
c.7768G>A (p.Val2590Met)
c.7666G>A (p.Val2556Met)
c.7297G>A (p.Val2433Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843740G>CCA014405APCc.8200G>C (p.Val2734Leu)
c.*8152G>C (n.*8152G>C)
c.8092G>C (p.Val2698Leu)
c.8146G>C (p.Val2716Leu)
c.231-12909G>C
c.8176G>C (p.Val2726Leu)
c.8071G>C (p.Val2691Leu)
c.8062G>C (p.Val2688Leu)
c.8023G>C (p.Val2675Leu)
c.7969G>C (p.Val2657Leu)
c.7873G>C (p.Val2625Leu)
c.7843G>C (p.Val2615Leu)
c.7768G>C (p.Val2590Leu)
c.7666G>C (p.Val2556Leu)
c.7297G>C (p.Val2433Leu)
 ClinVar dbSNP gnomAD v4
5g.112843740G=CA1573476433APCc.8200G= (p.Val2734=)
c.*8152G= (n.*8152G=)
c.8092G= (p.Val2698=)
c.8146G= (p.Val2716=)
c.231-12909G=
c.8176G= (p.Val2726=)
c.8071G= (p.Val2691=)
c.8062G= (p.Val2688=)
c.8023G= (p.Val2675=)
c.7969G= (p.Val2657=)
c.7873G= (p.Val2625=)
c.7843G= (p.Val2615=)
c.7768G= (p.Val2590=)
c.7666G= (p.Val2556=)
c.7297G= (p.Val2433=)
5g.112843740G>TCA16039018APCc.8200G>T (p.Val2734Leu)
c.*8152G>T (n.*8152G>T)
c.8092G>T (p.Val2698Leu)
c.8146G>T (p.Val2716Leu)
c.231-12909G>T
c.8176G>T (p.Val2726Leu)
c.8071G>T (p.Val2691Leu)
c.8062G>T (p.Val2688Leu)
c.8023G>T (p.Val2675Leu)
c.7969G>T (p.Val2657Leu)
c.7873G>T (p.Val2625Leu)
c.7843G>T (p.Val2615Leu)
c.7768G>T (p.Val2590Leu)
c.7666G>T (p.Val2556Leu)
c.7297G>T (p.Val2433Leu)
 ClinVar dbSNP
5g.112843741T>ACA16039019APCc.8201T>A (p.Val2734Glu)
c.*8153T>A (n.*8153T>A)
c.8093T>A (p.Val2698Glu)
c.8147T>A (p.Val2716Glu)
c.231-12908T>A
c.8177T>A (p.Val2726Glu)
c.8072T>A (p.Val2691Glu)
c.8063T>A (p.Val2688Glu)
c.8024T>A (p.Val2675Glu)
c.7970T>A (p.Val2657Glu)
c.7874T>A (p.Val2625Glu)
c.7844T>A (p.Val2615Glu)
c.7769T>A (p.Val2590Glu)
c.7667T>A (p.Val2556Glu)
c.7298T>A (p.Val2433Glu)
 ClinVar dbSNP gnomAD v4
5g.112843741T>CCA16039020APCc.8201T>C (p.Val2734Ala)
c.*8153T>C (n.*8153T>C)
c.8093T>C (p.Val2698Ala)
c.8147T>C (p.Val2716Ala)
c.231-12908T>C
c.8177T>C (p.Val2726Ala)
c.8072T>C (p.Val2691Ala)
c.8063T>C (p.Val2688Ala)
c.8024T>C (p.Val2675Ala)
c.7970T>C (p.Val2657Ala)
c.7874T>C (p.Val2625Ala)
c.7844T>C (p.Val2615Ala)
c.7769T>C (p.Val2590Ala)
c.7667T>C (p.Val2556Ala)
c.7298T>C (p.Val2433Ala)
5g.112843741T>GCA16039021APCc.8201T>G (p.Val2734Gly)
c.*8153T>G (n.*8153T>G)
c.8093T>G (p.Val2698Gly)
c.8147T>G (p.Val2716Gly)
c.231-12908T>G
c.8177T>G (p.Val2726Gly)
c.8072T>G (p.Val2691Gly)
c.8063T>G (p.Val2688Gly)
c.8024T>G (p.Val2675Gly)
c.7970T>G (p.Val2657Gly)
c.7874T>G (p.Val2625Gly)
c.7844T>G (p.Val2615Gly)
c.7769T>G (p.Val2590Gly)
c.7667T>G (p.Val2556Gly)
c.7298T>G (p.Val2433Gly)
 dbSNP
5g.112843741T=CA1573476445APCc.8201T= (p.Val2734=)
c.*8153T= (n.*8153T=)
c.8093T= (p.Val2698=)
c.8147T= (p.Val2716=)
c.231-12908T=
c.8177T= (p.Val2726=)
c.8072T= (p.Val2691=)
c.8063T= (p.Val2688=)
c.8024T= (p.Val2675=)
c.7970T= (p.Val2657=)
c.7874T= (p.Val2625=)
c.7844T= (p.Val2615=)
c.7769T= (p.Val2590=)
c.7667T= (p.Val2556=)
c.7298T= (p.Val2433=)
5g.112843742G>ACA446211222APCc.8202G>A (p.Val2734=)
c.*8154G>A (n.*8154G>A)
c.8094G>A (p.Val2698=)
c.8148G>A (p.Val2716=)
c.231-12907G>A
c.8178G>A (p.Val2726=)
c.8073G>A (p.Val2691=)
c.8064G>A (p.Val2688=)
c.8025G>A (p.Val2675=)
c.7971G>A (p.Val2657=)
c.7875G>A (p.Val2625=)
c.7845G>A (p.Val2615=)
c.7770G>A (p.Val2590=)
c.7668G>A (p.Val2556=)
c.7299G>A (p.Val2433=)
 ClinVar dbSNP gnomAD v4
5g.112843742G>CCA446211220APCc.8202G>C (p.Val2734=)
c.*8154G>C (n.*8154G>C)
c.8094G>C (p.Val2698=)
c.8148G>C (p.Val2716=)
c.231-12907G>C
c.8178G>C (p.Val2726=)
c.8073G>C (p.Val2691=)
c.8064G>C (p.Val2688=)
c.8025G>C (p.Val2675=)
c.7971G>C (p.Val2657=)
c.7875G>C (p.Val2625=)
c.7845G>C (p.Val2615=)
c.7770G>C (p.Val2590=)
c.7668G>C (p.Val2556=)
c.7299G>C (p.Val2433=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112843742G=CA1573476452APCc.8202G= (p.Val2734=)
c.*8154G= (n.*8154G=)
c.8094G= (p.Val2698=)
c.8148G= (p.Val2716=)
c.231-12907G=
c.8178G= (p.Val2726=)
c.8073G= (p.Val2691=)
c.8064G= (p.Val2688=)
c.8025G= (p.Val2675=)
c.7971G= (p.Val2657=)
c.7875G= (p.Val2625=)
c.7845G= (p.Val2615=)
c.7770G= (p.Val2590=)
c.7668G= (p.Val2556=)
c.7299G= (p.Val2433=)
5g.112843742G>TCA446211219APCc.8202G>T (p.Val2734=)
c.*8154G>T (n.*8154G>T)
c.8094G>T (p.Val2698=)
c.8148G>T (p.Val2716=)
c.231-12907G>T
c.8178G>T (p.Val2726=)
c.8073G>T (p.Val2691=)
c.8064G>T (p.Val2688=)
c.8025G>T (p.Val2675=)
c.7971G>T (p.Val2657=)
c.7875G>T (p.Val2625=)
c.7845G>T (p.Val2615=)
c.7770G>T (p.Val2590=)
c.7668G>T (p.Val2556=)
c.7299G>T (p.Val2433=)
5g.112843743G>ACA16039022APCc.8203G>A (p.Gly2735Ser)
c.*8155G>A (n.*8155G>A)
c.8095G>A (p.Gly2699Ser)
c.8149G>A (p.Gly2717Ser)
c.231-12906G>A
c.8179G>A (p.Gly2727Ser)
c.8074G>A (p.Gly2692Ser)
c.8065G>A (p.Gly2689Ser)
c.8026G>A (p.Gly2676Ser)
c.7972G>A (p.Gly2658Ser)
c.7876G>A (p.Gly2626Ser)
c.7846G>A (p.Gly2616Ser)
c.7771G>A (p.Gly2591Ser)
c.7669G>A (p.Gly2557Ser)
c.7300G>A (p.Gly2434Ser)
 dbSNP gnomAD v2 gnomAD v4
5g.112843743G>CCA16039023APCc.8203G>C (p.Gly2735Arg)
c.*8155G>C (n.*8155G>C)
c.8095G>C (p.Gly2699Arg)
c.8149G>C (p.Gly2717Arg)
c.231-12906G>C
c.8179G>C (p.Gly2727Arg)
c.8074G>C (p.Gly2692Arg)
c.8065G>C (p.Gly2689Arg)
c.8026G>C (p.Gly2676Arg)
c.7972G>C (p.Gly2658Arg)
c.7876G>C (p.Gly2626Arg)
c.7846G>C (p.Gly2616Arg)
c.7771G>C (p.Gly2591Arg)
c.7669G>C (p.Gly2557Arg)
c.7300G>C (p.Gly2434Arg)
 dbSNP
5g.112843743G=CA1573476460APCc.8203G= (p.Gly2735=)
c.*8155G= (n.*8155G=)
c.8095G= (p.Gly2699=)
c.8149G= (p.Gly2717=)
c.231-12906G=
c.8179G= (p.Gly2727=)
c.8074G= (p.Gly2692=)
c.8065G= (p.Gly2689=)
c.8026G= (p.Gly2676=)
c.7972G= (p.Gly2658=)
c.7876G= (p.Gly2626=)
c.7846G= (p.Gly2616=)
c.7771G= (p.Gly2591=)
c.7669G= (p.Gly2557=)
c.7300G= (p.Gly2434=)
5g.112843743G>TCA049997APCc.8203G>T (p.Gly2735Cys)
c.*8155G>T (n.*8155G>T)
c.8095G>T (p.Gly2699Cys)
c.8149G>T (p.Gly2717Cys)
c.231-12906G>T
c.8179G>T (p.Gly2727Cys)
c.8074G>T (p.Gly2692Cys)
c.8065G>T (p.Gly2689Cys)
c.8026G>T (p.Gly2676Cys)
c.7972G>T (p.Gly2658Cys)
c.7876G>T (p.Gly2626Cys)
c.7846G>T (p.Gly2616Cys)
c.7771G>T (p.Gly2591Cys)
c.7669G>T (p.Gly2557Cys)
c.7300G>T (p.Gly2434Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112843744G>ACA10578458APCc.8204G>A (p.Gly2735Asp)
c.*8156G>A (n.*8156G>A)
c.8096G>A (p.Gly2699Asp)
c.8150G>A (p.Gly2717Asp)
c.231-12905G>A
c.8180G>A (p.Gly2727Asp)
c.8075G>A (p.Gly2692Asp)
c.8066G>A (p.Gly2689Asp)
c.8027G>A (p.Gly2676Asp)
c.7973G>A (p.Gly2658Asp)
c.7877G>A (p.Gly2626Asp)
c.7847G>A (p.Gly2616Asp)
c.7772G>A (p.Gly2591Asp)
c.7670G>A (p.Gly2557Asp)
c.7301G>A (p.Gly2434Asp)
 ClinVar dbSNP gnomAD v4
5g.112843744G>CCA16039024APCc.8204G>C (p.Gly2735Ala)
c.*8156G>C (n.*8156G>C)
c.8096G>C (p.Gly2699Ala)
c.8150G>C (p.Gly2717Ala)
c.231-12905G>C
c.8180G>C (p.Gly2727Ala)
c.8075G>C (p.Gly2692Ala)
c.8066G>C (p.Gly2689Ala)
c.8027G>C (p.Gly2676Ala)
c.7973G>C (p.Gly2658Ala)
c.7877G>C (p.Gly2626Ala)
c.7847G>C (p.Gly2616Ala)
c.7772G>C (p.Gly2591Ala)
c.7670G>C (p.Gly2557Ala)
c.7301G>C (p.Gly2434Ala)
 ClinVar dbSNP gnomAD v4 COSMIC
5g.112843744G=CA1573476469APCc.8204G= (p.Gly2735=)
c.*8156G= (n.*8156G=)
c.8096G= (p.Gly2699=)
c.8150G= (p.Gly2717=)
c.231-12905G=
c.8180G= (p.Gly2727=)
c.8075G= (p.Gly2692=)
c.8066G= (p.Gly2689=)
c.8027G= (p.Gly2676=)
c.7973G= (p.Gly2658=)
c.7877G= (p.Gly2626=)
c.7847G= (p.Gly2616=)
c.7772G= (p.Gly2591=)
c.7670G= (p.Gly2557=)
c.7301G= (p.Gly2434=)
5g.112843744G>TCA16039025APCc.8204G>T (p.Gly2735Val)
c.*8156G>T (n.*8156G>T)
c.8096G>T (p.Gly2699Val)
c.8150G>T (p.Gly2717Val)
c.231-12905G>T
c.8180G>T (p.Gly2727Val)
c.8075G>T (p.Gly2692Val)
c.8066G>T (p.Gly2689Val)
c.8027G>T (p.Gly2676Val)
c.7973G>T (p.Gly2658Val)
c.7877G>T (p.Gly2626Val)
c.7847G>T (p.Gly2616Val)
c.7772G>T (p.Gly2591Val)
c.7670G>T (p.Gly2557Val)
c.7301G>T (p.Gly2434Val)
5g.112843745T>ACA446211226APCc.8205T>A (p.Gly2735=)
c.*8157T>A (n.*8157T>A)
c.8097T>A (p.Gly2699=)
c.8151T>A (p.Gly2717=)
c.231-12904T>A
c.8181T>A (p.Gly2727=)
c.8076T>A (p.Gly2692=)
c.8067T>A (p.Gly2689=)
c.8028T>A (p.Gly2676=)
c.7974T>A (p.Gly2658=)
c.7878T>A (p.Gly2626=)
c.7848T>A (p.Gly2616=)
c.7773T>A (p.Gly2591=)
c.7671T>A (p.Gly2557=)
c.7302T>A (p.Gly2434=)
 dbSNP
5g.112843745T>CCA446211227APCc.8205T>C (p.Gly2735=)
c.*8157T>C (n.*8157T>C)
c.8097T>C (p.Gly2699=)
c.8151T>C (p.Gly2717=)
c.231-12904T>C
c.8181T>C (p.Gly2727=)
c.8076T>C (p.Gly2692=)
c.8067T>C (p.Gly2689=)
c.8028T>C (p.Gly2676=)
c.7974T>C (p.Gly2658=)
c.7878T>C (p.Gly2626=)
c.7848T>C (p.Gly2616=)
c.7773T>C (p.Gly2591=)
c.7671T>C (p.Gly2557=)
c.7302T>C (p.Gly2434=)
 ClinVar dbSNP
5g.112843745T>GCA446211228APCc.8205T>G (p.Gly2735=)
c.*8157T>G (n.*8157T>G)
c.8097T>G (p.Gly2699=)
c.8151T>G (p.Gly2717=)
c.231-12904T>G
c.8181T>G (p.Gly2727=)
c.8076T>G (p.Gly2692=)
c.8067T>G (p.Gly2689=)
c.8028T>G (p.Gly2676=)
c.7974T>G (p.Gly2658=)
c.7878T>G (p.Gly2626=)
c.7848T>G (p.Gly2616=)
c.7773T>G (p.Gly2591=)
c.7671T>G (p.Gly2557=)
c.7302T>G (p.Gly2434=)
 dbSNP
5g.112843747delCA2582341606APCc.8207del (p.Leu2736TrpfsTer5)
c.*8159del (n.*8159del)
c.8099del (p.Leu2700TrpfsTer5)
c.8153del (p.Leu2718TrpfsTer5)
c.231-12902del
c.8183del (p.Leu2728TrpfsTer5)
c.8078del (p.Leu2693TrpfsTer5)
c.8069del (p.Leu2690TrpfsTer5)
c.8030del (p.Leu2677TrpfsTer5)
c.7976del (p.Leu2659TrpfsTer5)
c.7880del (p.Leu2627TrpfsTer5)
c.7850del (p.Leu2617TrpfsTer5)
c.7775del (p.Leu2592TrpfsTer5)
c.7673del (p.Leu2558TrpfsTer5)
c.7304del (p.Leu2435TrpfsTer5)
 ClinVar
5g.112843746_112843747delCA2825001388APCc.8206_8207del (p.Leu2736GlyfsTer14)
c.*8158_*8159del (n.*8158_*8159del)
c.8098_8099del (p.Leu2700GlyfsTer14)
c.8152_8153del (p.Leu2718GlyfsTer14)
c.231-12903_231-12902del
c.8182_8183del (p.Leu2728GlyfsTer14)
c.8077_8078del (p.Leu2693GlyfsTer14)
c.8068_8069del (p.Leu2690GlyfsTer14)
c.8029_8030del (p.Leu2677GlyfsTer14)
c.7975_7976del (p.Leu2659GlyfsTer14)
c.7879_7880del (p.Leu2627GlyfsTer14)
c.7849_7850del (p.Leu2617GlyfsTer14)
c.7774_7775del (p.Leu2592GlyfsTer14)
c.7672_7673del (p.Leu2558GlyfsTer14)
c.7303_7304del (p.Leu2435GlyfsTer14)
 ClinVar

Number of alleles fetched