Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.112843329G>ACA16038126APCc.7789G>A (p.Glu2597Lys)
c.*7741G>A (n.*7741G>A)
c.7681G>A (p.Glu2561Lys)
c.7735G>A (p.Glu2579Lys)
c.231-13320G>A
c.7765G>A (p.Glu2589Lys)
c.7660G>A (p.Glu2554Lys)
c.7651G>A (p.Glu2551Lys)
c.7612G>A (p.Glu2538Lys)
c.7558G>A (p.Glu2520Lys)
c.7462G>A (p.Glu2488Lys)
c.7432G>A (p.Glu2478Lys)
c.7357G>A (p.Glu2453Lys)
c.7255G>A (p.Glu2419Lys)
c.6886G>A (p.Glu2296Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112843329G>CCA16038127APCc.7789G>C (p.Glu2597Gln)
c.*7741G>C (n.*7741G>C)
c.7681G>C (p.Glu2561Gln)
c.7735G>C (p.Glu2579Gln)
c.231-13320G>C
c.7765G>C (p.Glu2589Gln)
c.7660G>C (p.Glu2554Gln)
c.7651G>C (p.Glu2551Gln)
c.7612G>C (p.Glu2538Gln)
c.7558G>C (p.Glu2520Gln)
c.7462G>C (p.Glu2488Gln)
c.7432G>C (p.Glu2478Gln)
c.7357G>C (p.Glu2453Gln)
c.7255G>C (p.Glu2419Gln)
c.6886G>C (p.Glu2296Gln)
 dbSNP
5g.112843329G=CA1573473213APCc.7789G= (p.Glu2597=)
c.*7741G= (n.*7741G=)
c.7681G= (p.Glu2561=)
c.7735G= (p.Glu2579=)
c.231-13320G=
c.7765G= (p.Glu2589=)
c.7660G= (p.Glu2554=)
c.7651G= (p.Glu2551=)
c.7612G= (p.Glu2538=)
c.7558G= (p.Glu2520=)
c.7462G= (p.Glu2488=)
c.7432G= (p.Glu2478=)
c.7357G= (p.Glu2453=)
c.7255G= (p.Glu2419=)
c.6886G= (p.Glu2296=)
5g.112843329G>TCA16038128APCc.7789G>T (p.Glu2597Ter)
c.*7741G>T (n.*7741G>T)
c.7681G>T (p.Glu2561Ter)
c.7735G>T (p.Glu2579Ter)
c.231-13320G>T
c.7765G>T (p.Glu2589Ter)
c.7660G>T (p.Glu2554Ter)
c.7651G>T (p.Glu2551Ter)
c.7612G>T (p.Glu2538Ter)
c.7558G>T (p.Glu2520Ter)
c.7462G>T (p.Glu2488Ter)
c.7432G>T (p.Glu2478Ter)
c.7357G>T (p.Glu2453Ter)
c.7255G>T (p.Glu2419Ter)
c.6886G>T (p.Glu2296Ter)
 dbSNP
5g.112843329dupCA2674869691APCc.7789dup (p.Glu2597GlyfsTer4)
c.*7741dup (n.*7741dup)
c.7681dup (p.Glu2561GlyfsTer4)
c.7735dup (p.Glu2579GlyfsTer4)
c.231-13320dup
c.7765dup (p.Glu2589GlyfsTer4)
c.7660dup (p.Glu2554GlyfsTer4)
c.7651dup (p.Glu2551GlyfsTer4)
c.7612dup (p.Glu2538GlyfsTer4)
c.7558dup (p.Glu2520GlyfsTer4)
c.7462dup (p.Glu2488GlyfsTer4)
c.7432dup (p.Glu2478GlyfsTer4)
c.7357dup (p.Glu2453GlyfsTer4)
c.7255dup (p.Glu2419GlyfsTer4)
c.6886dup (p.Glu2296GlyfsTer4)
 gnomAD v4
5g.112843330A>CCA16038129APCc.7790A>C (p.Glu2597Ala)
c.*7742A>C (n.*7742A>C)
c.7682A>C (p.Glu2561Ala)
c.7736A>C (p.Glu2579Ala)
c.231-13319A>C
c.7766A>C (p.Glu2589Ala)
c.7661A>C (p.Glu2554Ala)
c.7652A>C (p.Glu2551Ala)
c.7613A>C (p.Glu2538Ala)
c.7559A>C (p.Glu2520Ala)
c.7463A>C (p.Glu2488Ala)
c.7433A>C (p.Glu2478Ala)
c.7358A>C (p.Glu2453Ala)
c.7256A>C (p.Glu2419Ala)
c.6887A>C (p.Glu2296Ala)
5g.112843330A>GCA16038130APCc.7790A>G (p.Glu2597Gly)
c.*7742A>G (n.*7742A>G)
c.7682A>G (p.Glu2561Gly)
c.7736A>G (p.Glu2579Gly)
c.231-13319A>G
c.7766A>G (p.Glu2589Gly)
c.7661A>G (p.Glu2554Gly)
c.7652A>G (p.Glu2551Gly)
c.7613A>G (p.Glu2538Gly)
c.7559A>G (p.Glu2520Gly)
c.7463A>G (p.Glu2488Gly)
c.7433A>G (p.Glu2478Gly)
c.7358A>G (p.Glu2453Gly)
c.7256A>G (p.Glu2419Gly)
c.6887A>G (p.Glu2296Gly)
 ClinVar dbSNP
5g.112843330A>TCA16038131APCc.7790A>T (p.Glu2597Val)
c.*7742A>T (n.*7742A>T)
c.7682A>T (p.Glu2561Val)
c.7736A>T (p.Glu2579Val)
c.231-13319A>T
c.7766A>T (p.Glu2589Val)
c.7661A>T (p.Glu2554Val)
c.7652A>T (p.Glu2551Val)
c.7613A>T (p.Glu2538Val)
c.7559A>T (p.Glu2520Val)
c.7463A>T (p.Glu2488Val)
c.7433A>T (p.Glu2478Val)
c.7358A>T (p.Glu2453Val)
c.7256A>T (p.Glu2419Val)
c.6887A>T (p.Glu2296Val)
 dbSNP gnomAD v4
5g.112843331A=CA1573473218APCc.7791A= (p.Glu2597=)
c.*7743A= (n.*7743A=)
c.7683A= (p.Glu2561=)
c.7737A= (p.Glu2579=)
c.231-13318A=
c.7767A= (p.Glu2589=)
c.7662A= (p.Glu2554=)
c.7653A= (p.Glu2551=)
c.7614A= (p.Glu2538=)
c.7560A= (p.Glu2520=)
c.7464A= (p.Glu2488=)
c.7434A= (p.Glu2478=)
c.7359A= (p.Glu2453=)
c.7257A= (p.Glu2419=)
c.6888A= (p.Glu2296=)
5g.112843331A>CCA16038132APCc.7791A>C (p.Glu2597Asp)
c.*7743A>C (n.*7743A>C)
c.7683A>C (p.Glu2561Asp)
c.7737A>C (p.Glu2579Asp)
c.231-13318A>C
c.7767A>C (p.Glu2589Asp)
c.7662A>C (p.Glu2554Asp)
c.7653A>C (p.Glu2551Asp)
c.7614A>C (p.Glu2538Asp)
c.7560A>C (p.Glu2520Asp)
c.7464A>C (p.Glu2488Asp)
c.7434A>C (p.Glu2478Asp)
c.7359A>C (p.Glu2453Asp)
c.7257A>C (p.Glu2419Asp)
c.6888A>C (p.Glu2296Asp)
5g.112843331A>GCA446211182APCc.7791A>G (p.Glu2597=)
c.*7743A>G (n.*7743A>G)
c.7683A>G (p.Glu2561=)
c.7737A>G (p.Glu2579=)
c.231-13318A>G
c.7767A>G (p.Glu2589=)
c.7662A>G (p.Glu2554=)
c.7653A>G (p.Glu2551=)
c.7614A>G (p.Glu2538=)
c.7560A>G (p.Glu2520=)
c.7464A>G (p.Glu2488=)
c.7434A>G (p.Glu2478=)
c.7359A>G (p.Glu2453=)
c.7257A>G (p.Glu2419=)
c.6888A>G (p.Glu2296=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112843331A>TCA16038133APCc.7791A>T (p.Glu2597Asp)
c.*7743A>T (n.*7743A>T)
c.7683A>T (p.Glu2561Asp)
c.7737A>T (p.Glu2579Asp)
c.231-13318A>T
c.7767A>T (p.Glu2589Asp)
c.7662A>T (p.Glu2554Asp)
c.7653A>T (p.Glu2551Asp)
c.7614A>T (p.Glu2538Asp)
c.7560A>T (p.Glu2520Asp)
c.7464A>T (p.Glu2488Asp)
c.7434A>T (p.Glu2478Asp)
c.7359A>T (p.Glu2453Asp)
c.7257A>T (p.Glu2419Asp)
c.6888A>T (p.Glu2296Asp)
5g.112843332T>ACA16038134APCc.7792T>A (p.Ser2598Thr)
c.*7744T>A (n.*7744T>A)
c.7684T>A (p.Ser2562Thr)
c.7738T>A (p.Ser2580Thr)
c.231-13317T>A
c.7768T>A (p.Ser2590Thr)
c.7663T>A (p.Ser2555Thr)
c.7654T>A (p.Ser2552Thr)
c.7615T>A (p.Ser2539Thr)
c.7561T>A (p.Ser2521Thr)
c.7465T>A (p.Ser2489Thr)
c.7435T>A (p.Ser2479Thr)
c.7360T>A (p.Ser2454Thr)
c.7258T>A (p.Ser2420Thr)
c.6889T>A (p.Ser2297Thr)
5g.112843332T>CCA16038135APCc.7792T>C (p.Ser2598Pro)
c.*7744T>C (n.*7744T>C)
c.7684T>C (p.Ser2562Pro)
c.7738T>C (p.Ser2580Pro)
c.231-13317T>C
c.7768T>C (p.Ser2590Pro)
c.7663T>C (p.Ser2555Pro)
c.7654T>C (p.Ser2552Pro)
c.7615T>C (p.Ser2539Pro)
c.7561T>C (p.Ser2521Pro)
c.7465T>C (p.Ser2489Pro)
c.7435T>C (p.Ser2479Pro)
c.7360T>C (p.Ser2454Pro)
c.7258T>C (p.Ser2420Pro)
c.6889T>C (p.Ser2297Pro)
5g.112843332T>GCA16038136APCc.7792T>G (p.Ser2598Ala)
c.*7744T>G (n.*7744T>G)
c.7684T>G (p.Ser2562Ala)
c.7738T>G (p.Ser2580Ala)
c.231-13317T>G
c.7768T>G (p.Ser2590Ala)
c.7663T>G (p.Ser2555Ala)
c.7654T>G (p.Ser2552Ala)
c.7615T>G (p.Ser2539Ala)
c.7561T>G (p.Ser2521Ala)
c.7465T>G (p.Ser2489Ala)
c.7435T>G (p.Ser2479Ala)
c.7360T>G (p.Ser2454Ala)
c.7258T>G (p.Ser2420Ala)
c.6889T>G (p.Ser2297Ala)
 ClinVar dbSNP
5g.112843332T=CA1573473226APCc.7792T= (p.Ser2598=)
c.*7744T= (n.*7744T=)
c.7684T= (p.Ser2562=)
c.7738T= (p.Ser2580=)
c.231-13317T=
c.7768T= (p.Ser2590=)
c.7663T= (p.Ser2555=)
c.7654T= (p.Ser2552=)
c.7615T= (p.Ser2539=)
c.7561T= (p.Ser2521=)
c.7465T= (p.Ser2489=)
c.7435T= (p.Ser2479=)
c.7360T= (p.Ser2454=)
c.7258T= (p.Ser2420=)
c.6889T= (p.Ser2297=)
5g.112843333C>ACA16038137APCc.7793C>A (p.Ser2598Tyr)
c.*7745C>A (n.*7745C>A)
c.7685C>A (p.Ser2562Tyr)
c.7739C>A (p.Ser2580Tyr)
c.231-13316C>A
c.7769C>A (p.Ser2590Tyr)
c.7664C>A (p.Ser2555Tyr)
c.7655C>A (p.Ser2552Tyr)
c.7616C>A (p.Ser2539Tyr)
c.7562C>A (p.Ser2521Tyr)
c.7466C>A (p.Ser2489Tyr)
c.7436C>A (p.Ser2479Tyr)
c.7361C>A (p.Ser2454Tyr)
c.7259C>A (p.Ser2420Tyr)
c.6890C>A (p.Ser2297Tyr)
 dbSNP
5g.112843333C=CA1573473236APCc.7793C= (p.Ser2598=)
c.*7745C= (n.*7745C=)
c.7685C= (p.Ser2562=)
c.7739C= (p.Ser2580=)
c.231-13316C=
c.7769C= (p.Ser2590=)
c.7664C= (p.Ser2555=)
c.7655C= (p.Ser2552=)
c.7616C= (p.Ser2539=)
c.7562C= (p.Ser2521=)
c.7466C= (p.Ser2489=)
c.7436C= (p.Ser2479=)
c.7361C= (p.Ser2454=)
c.7259C= (p.Ser2420=)
c.6890C= (p.Ser2297=)
5g.112843333C>GCA16038138APCc.7793C>G (p.Ser2598Cys)
c.*7745C>G (n.*7745C>G)
c.7685C>G (p.Ser2562Cys)
c.7739C>G (p.Ser2580Cys)
c.231-13316C>G
c.7769C>G (p.Ser2590Cys)
c.7664C>G (p.Ser2555Cys)
c.7655C>G (p.Ser2552Cys)
c.7616C>G (p.Ser2539Cys)
c.7562C>G (p.Ser2521Cys)
c.7466C>G (p.Ser2489Cys)
c.7436C>G (p.Ser2479Cys)
c.7361C>G (p.Ser2454Cys)
c.7259C>G (p.Ser2420Cys)
c.6890C>G (p.Ser2297Cys)
 dbSNP
5g.112843333C>TCA16038139APCc.7793C>T (p.Ser2598Phe)
c.*7745C>T (n.*7745C>T)
c.7685C>T (p.Ser2562Phe)
c.7739C>T (p.Ser2580Phe)
c.231-13316C>T
c.7769C>T (p.Ser2590Phe)
c.7664C>T (p.Ser2555Phe)
c.7655C>T (p.Ser2552Phe)
c.7616C>T (p.Ser2539Phe)
c.7562C>T (p.Ser2521Phe)
c.7466C>T (p.Ser2489Phe)
c.7436C>T (p.Ser2479Phe)
c.7361C>T (p.Ser2454Phe)
c.7259C>T (p.Ser2420Phe)
c.6890C>T (p.Ser2297Phe)
 ClinVar dbSNP gnomAD v4
5g.112843334C>ACA446211186APCc.7794C>A (p.Ser2598=)
c.*7746C>A (n.*7746C>A)
c.7686C>A (p.Ser2562=)
c.7740C>A (p.Ser2580=)
c.231-13315C>A
c.7770C>A (p.Ser2590=)
c.7665C>A (p.Ser2555=)
c.7656C>A (p.Ser2552=)
c.7617C>A (p.Ser2539=)
c.7563C>A (p.Ser2521=)
c.7467C>A (p.Ser2489=)
c.7437C>A (p.Ser2479=)
c.7362C>A (p.Ser2454=)
c.7260C>A (p.Ser2420=)
c.6891C>A (p.Ser2297=)
 dbSNP gnomAD v2 gnomAD v4
5g.112843334C=CA1573473247APCc.7794C= (p.Ser2598=)
c.*7746C= (n.*7746C=)
c.7686C= (p.Ser2562=)
c.7740C= (p.Ser2580=)
c.231-13315C=
c.7770C= (p.Ser2590=)
c.7665C= (p.Ser2555=)
c.7656C= (p.Ser2552=)
c.7617C= (p.Ser2539=)
c.7563C= (p.Ser2521=)
c.7467C= (p.Ser2489=)
c.7437C= (p.Ser2479=)
c.7362C= (p.Ser2454=)
c.7260C= (p.Ser2420=)
c.6891C= (p.Ser2297=)
5g.112843334C>GCA446211187APCc.7794C>G (p.Ser2598=)
c.*7746C>G (n.*7746C>G)
c.7686C>G (p.Ser2562=)
c.7740C>G (p.Ser2580=)
c.231-13315C>G
c.7770C>G (p.Ser2590=)
c.7665C>G (p.Ser2555=)
c.7656C>G (p.Ser2552=)
c.7617C>G (p.Ser2539=)
c.7563C>G (p.Ser2521=)
c.7467C>G (p.Ser2489=)
c.7437C>G (p.Ser2479=)
c.7362C>G (p.Ser2454=)
c.7260C>G (p.Ser2420=)
c.6891C>G (p.Ser2297=)
 dbSNP
5g.112843334C>TCA446211188APCc.7794C>T (p.Ser2598=)
c.*7746C>T (n.*7746C>T)
c.7686C>T (p.Ser2562=)
c.7740C>T (p.Ser2580=)
c.231-13315C>T
c.7770C>T (p.Ser2590=)
c.7665C>T (p.Ser2555=)
c.7656C>T (p.Ser2552=)
c.7617C>T (p.Ser2539=)
c.7563C>T (p.Ser2521=)
c.7467C>T (p.Ser2489=)
c.7437C>T (p.Ser2479=)
c.7362C>T (p.Ser2454=)
c.7260C>T (p.Ser2420=)
c.6891C>T (p.Ser2297=)
 ClinVar dbSNP COSMIC
5g.112843335A=CA1573473252APCc.7795A= (p.Ser2599=)
c.*7747A= (n.*7747A=)
c.7687A= (p.Ser2563=)
c.7741A= (p.Ser2581=)
c.231-13314A=
c.7771A= (p.Ser2591=)
c.7666A= (p.Ser2556=)
c.7657A= (p.Ser2553=)
c.7618A= (p.Ser2540=)
c.7564A= (p.Ser2522=)
c.7468A= (p.Ser2490=)
c.7438A= (p.Ser2480=)
c.7363A= (p.Ser2455=)
c.7261A= (p.Ser2421=)
c.6892A= (p.Ser2298=)
5g.112843335A>CCA16038140APCc.7795A>C (p.Ser2599Arg)
c.*7747A>C (n.*7747A>C)
c.7687A>C (p.Ser2563Arg)
c.7741A>C (p.Ser2581Arg)
c.231-13314A>C
c.7771A>C (p.Ser2591Arg)
c.7666A>C (p.Ser2556Arg)
c.7657A>C (p.Ser2553Arg)
c.7618A>C (p.Ser2540Arg)
c.7564A>C (p.Ser2522Arg)
c.7468A>C (p.Ser2490Arg)
c.7438A>C (p.Ser2480Arg)
c.7363A>C (p.Ser2455Arg)
c.7261A>C (p.Ser2421Arg)
c.6892A>C (p.Ser2298Arg)
 COSMIC
5g.112843335A>GCA16038141APCc.7795A>G (p.Ser2599Gly)
c.*7747A>G (n.*7747A>G)
c.7687A>G (p.Ser2563Gly)
c.7741A>G (p.Ser2581Gly)
c.231-13314A>G
c.7771A>G (p.Ser2591Gly)
c.7666A>G (p.Ser2556Gly)
c.7657A>G (p.Ser2553Gly)
c.7618A>G (p.Ser2540Gly)
c.7564A>G (p.Ser2522Gly)
c.7468A>G (p.Ser2490Gly)
c.7438A>G (p.Ser2480Gly)
c.7363A>G (p.Ser2455Gly)
c.7261A>G (p.Ser2421Gly)
c.6892A>G (p.Ser2298Gly)
 ClinVar dbSNP
5g.112843335A>TCA16038142APCc.7795A>T (p.Ser2599Cys)
c.*7747A>T (n.*7747A>T)
c.7687A>T (p.Ser2563Cys)
c.7741A>T (p.Ser2581Cys)
c.231-13314A>T
c.7771A>T (p.Ser2591Cys)
c.7666A>T (p.Ser2556Cys)
c.7657A>T (p.Ser2553Cys)
c.7618A>T (p.Ser2540Cys)
c.7564A>T (p.Ser2522Cys)
c.7468A>T (p.Ser2490Cys)
c.7438A>T (p.Ser2480Cys)
c.7363A>T (p.Ser2455Cys)
c.7261A>T (p.Ser2421Cys)
c.6892A>T (p.Ser2298Cys)
 dbSNP
5g.112843336G>ACA16038143APCc.7796G>A (p.Ser2599Asn)
c.*7748G>A (n.*7748G>A)
c.7688G>A (p.Ser2563Asn)
c.7742G>A (p.Ser2581Asn)
c.231-13313G>A
c.7772G>A (p.Ser2591Asn)
c.7667G>A (p.Ser2556Asn)
c.7658G>A (p.Ser2553Asn)
c.7619G>A (p.Ser2540Asn)
c.7565G>A (p.Ser2522Asn)
c.7469G>A (p.Ser2490Asn)
c.7439G>A (p.Ser2480Asn)
c.7364G>A (p.Ser2455Asn)
c.7262G>A (p.Ser2421Asn)
c.6893G>A (p.Ser2298Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112843336G>CCA16038144APCc.7796G>C (p.Ser2599Thr)
c.*7748G>C (n.*7748G>C)
c.7688G>C (p.Ser2563Thr)
c.7742G>C (p.Ser2581Thr)
c.231-13313G>C
c.7772G>C (p.Ser2591Thr)
c.7667G>C (p.Ser2556Thr)
c.7658G>C (p.Ser2553Thr)
c.7619G>C (p.Ser2540Thr)
c.7565G>C (p.Ser2522Thr)
c.7469G>C (p.Ser2490Thr)
c.7439G>C (p.Ser2480Thr)
c.7364G>C (p.Ser2455Thr)
c.7262G>C (p.Ser2421Thr)
c.6893G>C (p.Ser2298Thr)
 ClinVar dbSNP
5g.112843336G=CA1573473264APCc.7796G= (p.Ser2599=)
c.*7748G= (n.*7748G=)
c.7688G= (p.Ser2563=)
c.7742G= (p.Ser2581=)
c.231-13313G=
c.7772G= (p.Ser2591=)
c.7667G= (p.Ser2556=)
c.7658G= (p.Ser2553=)
c.7619G= (p.Ser2540=)
c.7565G= (p.Ser2522=)
c.7469G= (p.Ser2490=)
c.7439G= (p.Ser2480=)
c.7364G= (p.Ser2455=)
c.7262G= (p.Ser2421=)
c.6893G= (p.Ser2298=)
5g.112843336G>TCA16038145APCc.7796G>T (p.Ser2599Ile)
c.*7748G>T (n.*7748G>T)
c.7688G>T (p.Ser2563Ile)
c.7742G>T (p.Ser2581Ile)
c.231-13313G>T
c.7772G>T (p.Ser2591Ile)
c.7667G>T (p.Ser2556Ile)
c.7658G>T (p.Ser2553Ile)
c.7619G>T (p.Ser2540Ile)
c.7565G>T (p.Ser2522Ile)
c.7469G>T (p.Ser2490Ile)
c.7439G>T (p.Ser2480Ile)
c.7364G>T (p.Ser2455Ile)
c.7262G>T (p.Ser2421Ile)
c.6893G>T (p.Ser2298Ile)
 ClinVar dbSNP gnomAD v4
5g.112843337T>ACA16038146APCc.7797T>A (p.Ser2599Arg)
c.*7749T>A (n.*7749T>A)
c.7689T>A (p.Ser2563Arg)
c.7743T>A (p.Ser2581Arg)
c.231-13312T>A
c.7773T>A (p.Ser2591Arg)
c.7668T>A (p.Ser2556Arg)
c.7659T>A (p.Ser2553Arg)
c.7620T>A (p.Ser2540Arg)
c.7566T>A (p.Ser2522Arg)
c.7470T>A (p.Ser2490Arg)
c.7440T>A (p.Ser2480Arg)
c.7365T>A (p.Ser2455Arg)
c.7263T>A (p.Ser2421Arg)
c.6894T>A (p.Ser2298Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112843337T>CCA446211189APCc.7797T>C (p.Ser2599=)
c.*7749T>C (n.*7749T>C)
c.7689T>C (p.Ser2563=)
c.7743T>C (p.Ser2581=)
c.231-13312T>C
c.7773T>C (p.Ser2591=)
c.7668T>C (p.Ser2556=)
c.7659T>C (p.Ser2553=)
c.7620T>C (p.Ser2540=)
c.7566T>C (p.Ser2522=)
c.7470T>C (p.Ser2490=)
c.7440T>C (p.Ser2480=)
c.7365T>C (p.Ser2455=)
c.7263T>C (p.Ser2421=)
c.6894T>C (p.Ser2298=)
 ClinVar dbSNP gnomAD v4
5g.112843337T>GCA16038147APCc.7797T>G (p.Ser2599Arg)
c.*7749T>G (n.*7749T>G)
c.7689T>G (p.Ser2563Arg)
c.7743T>G (p.Ser2581Arg)
c.231-13312T>G
c.7773T>G (p.Ser2591Arg)
c.7668T>G (p.Ser2556Arg)
c.7659T>G (p.Ser2553Arg)
c.7620T>G (p.Ser2540Arg)
c.7566T>G (p.Ser2522Arg)
c.7470T>G (p.Ser2490Arg)
c.7440T>G (p.Ser2480Arg)
c.7365T>G (p.Ser2455Arg)
c.7263T>G (p.Ser2421Arg)
c.6894T>G (p.Ser2298Arg)
 dbSNP
5g.112843337T=CA1573473364APCc.7797T= (p.Ser2599=)
c.*7749T= (n.*7749T=)
c.7689T= (p.Ser2563=)
c.7743T= (p.Ser2581=)
c.231-13312T=
c.7773T= (p.Ser2591=)
c.7668T= (p.Ser2556=)
c.7659T= (p.Ser2553=)
c.7620T= (p.Ser2540=)
c.7566T= (p.Ser2522=)
c.7470T= (p.Ser2490=)
c.7440T= (p.Ser2480=)
c.7365T= (p.Ser2455=)
c.7263T= (p.Ser2421=)
c.6894T= (p.Ser2298=)
5g.112843337_112843338delinsTGCA1573473286APCc.7797_7798delinsTG (p.Ser2599=)
c.*7749_*7750delinsTG (n.*7749_*7750delinsTG)
c.7689_7690delinsTG (p.Ser2563=)
c.7743_7744delinsTG (p.Ser2581=)
c.231-13312_231-13311delinsTG
c.7773_7774delinsTG (p.Ser2591=)
c.7668_7669delinsTG (p.Ser2556=)
c.7659_7660delinsTG (p.Ser2553=)
c.7620_7621delinsTG (p.Ser2540=)
c.7566_7567delinsTG (p.Ser2522=)
c.7470_7471delinsTG (p.Ser2490=)
c.7440_7441delinsTG (p.Ser2480=)
c.7365_7366delinsTG (p.Ser2455=)
c.7263_7264delinsTG (p.Ser2421=)
c.6894_6895delinsTG (p.Ser2298=)
5g.112843338delCA658657464APCc.7798del (p.Glu2600LysfsTer11)
c.*7750del (n.*7750del)
c.7690del (p.Glu2564LysfsTer11)
c.7744del (p.Glu2582LysfsTer11)
c.231-13311del
c.7774del (p.Glu2592LysfsTer11)
c.7669del (p.Glu2557LysfsTer11)
c.7660del (p.Glu2554LysfsTer11)
c.7621del (p.Glu2541LysfsTer11)
c.7567del (p.Glu2523LysfsTer11)
c.7471del (p.Glu2491LysfsTer11)
c.7441del (p.Glu2481LysfsTer11)
c.7366del (p.Glu2456LysfsTer11)
c.7264del (p.Glu2422LysfsTer11)
c.6895del (p.Glu2299LysfsTer11)
 ClinVar dbSNP
5g.112843338G>ACA16038148APCc.7798G>A (p.Glu2600Lys)
c.*7750G>A (n.*7750G>A)
c.7690G>A (p.Glu2564Lys)
c.7744G>A (p.Glu2582Lys)
c.231-13311G>A
c.7774G>A (p.Glu2592Lys)
c.7669G>A (p.Glu2557Lys)
c.7660G>A (p.Glu2554Lys)
c.7621G>A (p.Glu2541Lys)
c.7567G>A (p.Glu2523Lys)
c.7471G>A (p.Glu2491Lys)
c.7441G>A (p.Glu2481Lys)
c.7366G>A (p.Glu2456Lys)
c.7264G>A (p.Glu2422Lys)
c.6895G>A (p.Glu2299Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112843338G>CCA16038149APCc.7798G>C (p.Glu2600Gln)
c.*7750G>C (n.*7750G>C)
c.7690G>C (p.Glu2564Gln)
c.7744G>C (p.Glu2582Gln)
c.231-13311G>C
c.7774G>C (p.Glu2592Gln)
c.7669G>C (p.Glu2557Gln)
c.7660G>C (p.Glu2554Gln)
c.7621G>C (p.Glu2541Gln)
c.7567G>C (p.Glu2523Gln)
c.7471G>C (p.Glu2491Gln)
c.7441G>C (p.Glu2481Gln)
c.7366G>C (p.Glu2456Gln)
c.7264G>C (p.Glu2422Gln)
c.6895G>C (p.Glu2299Gln)
 dbSNP
5g.112843338G=CA1573473377APCc.7798G= (p.Glu2600=)
c.*7750G= (n.*7750G=)
c.7690G= (p.Glu2564=)
c.7744G= (p.Glu2582=)
c.231-13311G=
c.7774G= (p.Glu2592=)
c.7669G= (p.Glu2557=)
c.7660G= (p.Glu2554=)
c.7621G= (p.Glu2541=)
c.7567G= (p.Glu2523=)
c.7471G= (p.Glu2491=)
c.7441G= (p.Glu2481=)
c.7366G= (p.Glu2456=)
c.7264G= (p.Glu2422=)
c.6895G= (p.Glu2299=)
5g.112843338G>TCA16038150APCc.7798G>T (p.Glu2600Ter)
c.*7750G>T (n.*7750G>T)
c.7690G>T (p.Glu2564Ter)
c.7744G>T (p.Glu2582Ter)
c.231-13311G>T
c.7774G>T (p.Glu2592Ter)
c.7669G>T (p.Glu2557Ter)
c.7660G>T (p.Glu2554Ter)
c.7621G>T (p.Glu2541Ter)
c.7567G>T (p.Glu2523Ter)
c.7471G>T (p.Glu2491Ter)
c.7441G>T (p.Glu2481Ter)
c.7366G>T (p.Glu2456Ter)
c.7264G>T (p.Glu2422Ter)
c.6895G>T (p.Glu2299Ter)
5g.112843339A=CA1573473399APCc.7799A= (p.Glu2600=)
c.*7751A= (n.*7751A=)
c.7691A= (p.Glu2564=)
c.7745A= (p.Glu2582=)
c.231-13310A=
c.7775A= (p.Glu2592=)
c.7670A= (p.Glu2557=)
c.7661A= (p.Glu2554=)
c.7622A= (p.Glu2541=)
c.7568A= (p.Glu2523=)
c.7472A= (p.Glu2491=)
c.7442A= (p.Glu2481=)
c.7367A= (p.Glu2456=)
c.7265A= (p.Glu2422=)
c.6896A= (p.Glu2299=)
5g.112843339A>CCA16038151APCc.7799A>C (p.Glu2600Ala)
c.*7751A>C (n.*7751A>C)
c.7691A>C (p.Glu2564Ala)
c.7745A>C (p.Glu2582Ala)
c.231-13310A>C
c.7775A>C (p.Glu2592Ala)
c.7670A>C (p.Glu2557Ala)
c.7661A>C (p.Glu2554Ala)
c.7622A>C (p.Glu2541Ala)
c.7568A>C (p.Glu2523Ala)
c.7472A>C (p.Glu2491Ala)
c.7442A>C (p.Glu2481Ala)
c.7367A>C (p.Glu2456Ala)
c.7265A>C (p.Glu2422Ala)
c.6896A>C (p.Glu2299Ala)
 gnomAD v4
5g.112843339A>GCA16038152APCc.7799A>G (p.Glu2600Gly)
c.*7751A>G (n.*7751A>G)
c.7691A>G (p.Glu2564Gly)
c.7745A>G (p.Glu2582Gly)
c.231-13310A>G
c.7775A>G (p.Glu2592Gly)
c.7670A>G (p.Glu2557Gly)
c.7661A>G (p.Glu2554Gly)
c.7622A>G (p.Glu2541Gly)
c.7568A>G (p.Glu2523Gly)
c.7472A>G (p.Glu2491Gly)
c.7442A>G (p.Glu2481Gly)
c.7367A>G (p.Glu2456Gly)
c.7265A>G (p.Glu2422Gly)
c.6896A>G (p.Glu2299Gly)
 ClinVar dbSNP
5g.112843339A>TCA16038153APCc.7799A>T (p.Glu2600Val)
c.*7751A>T (n.*7751A>T)
c.7691A>T (p.Glu2564Val)
c.7745A>T (p.Glu2582Val)
c.231-13310A>T
c.7775A>T (p.Glu2592Val)
c.7670A>T (p.Glu2557Val)
c.7661A>T (p.Glu2554Val)
c.7622A>T (p.Glu2541Val)
c.7568A>T (p.Glu2523Val)
c.7472A>T (p.Glu2491Val)
c.7442A>T (p.Glu2481Val)
c.7367A>T (p.Glu2456Val)
c.7265A>T (p.Glu2422Val)
c.6896A>T (p.Glu2299Val)
 dbSNP
5g.112843340A>CCA16038154APCc.7800A>C (p.Glu2600Asp)
c.*7752A>C (n.*7752A>C)
c.7692A>C (p.Glu2564Asp)
c.7746A>C (p.Glu2582Asp)
c.231-13309A>C
c.7776A>C (p.Glu2592Asp)
c.7671A>C (p.Glu2557Asp)
c.7662A>C (p.Glu2554Asp)
c.7623A>C (p.Glu2541Asp)
c.7569A>C (p.Glu2523Asp)
c.7473A>C (p.Glu2491Asp)
c.7443A>C (p.Glu2481Asp)
c.7368A>C (p.Glu2456Asp)
c.7266A>C (p.Glu2422Asp)
c.6897A>C (p.Glu2299Asp)
5g.112843340A>GCA446211191APCc.7800A>G (p.Glu2600=)
c.*7752A>G (n.*7752A>G)
c.7692A>G (p.Glu2564=)
c.7746A>G (p.Glu2582=)
c.231-13309A>G
c.7776A>G (p.Glu2592=)
c.7671A>G (p.Glu2557=)
c.7662A>G (p.Glu2554=)
c.7623A>G (p.Glu2541=)
c.7569A>G (p.Glu2523=)
c.7473A>G (p.Glu2491=)
c.7443A>G (p.Glu2481=)
c.7368A>G (p.Glu2456=)
c.7266A>G (p.Glu2422=)
c.6897A>G (p.Glu2299=)
 dbSNP
5g.112843340A>TCA16038155APCc.7800A>T (p.Glu2600Asp)
c.*7752A>T (n.*7752A>T)
c.7692A>T (p.Glu2564Asp)
c.7746A>T (p.Glu2582Asp)
c.231-13309A>T
c.7776A>T (p.Glu2592Asp)
c.7671A>T (p.Glu2557Asp)
c.7662A>T (p.Glu2554Asp)
c.7623A>T (p.Glu2541Asp)
c.7569A>T (p.Glu2523Asp)
c.7473A>T (p.Glu2491Asp)
c.7443A>T (p.Glu2481Asp)
c.7368A>T (p.Glu2456Asp)
c.7266A>T (p.Glu2422Asp)
c.6897A>T (p.Glu2299Asp)
 ClinVar
5g.112843341A>CCA16038156APCc.7801A>C (p.Lys2601Gln)
c.*7753A>C (n.*7753A>C)
c.7693A>C (p.Lys2565Gln)
c.7747A>C (p.Lys2583Gln)
c.231-13308A>C
c.7777A>C (p.Lys2593Gln)
c.7672A>C (p.Lys2558Gln)
c.7663A>C (p.Lys2555Gln)
c.7624A>C (p.Lys2542Gln)
c.7570A>C (p.Lys2524Gln)
c.7474A>C (p.Lys2492Gln)
c.7444A>C (p.Lys2482Gln)
c.7369A>C (p.Lys2457Gln)
c.7267A>C (p.Lys2423Gln)
c.6898A>C (p.Lys2300Gln)
5g.112843341A>GCA16038157APCc.7801A>G (p.Lys2601Glu)
c.*7753A>G (n.*7753A>G)
c.7693A>G (p.Lys2565Glu)
c.7747A>G (p.Lys2583Glu)
c.231-13308A>G
c.7777A>G (p.Lys2593Glu)
c.7672A>G (p.Lys2558Glu)
c.7663A>G (p.Lys2555Glu)
c.7624A>G (p.Lys2542Glu)
c.7570A>G (p.Lys2524Glu)
c.7474A>G (p.Lys2492Glu)
c.7444A>G (p.Lys2482Glu)
c.7369A>G (p.Lys2457Glu)
c.7267A>G (p.Lys2423Glu)
c.6898A>G (p.Lys2300Glu)
 dbSNP
5g.112843341A>TCA16038158APCc.7801A>T (p.Lys2601Ter)
c.*7753A>T (n.*7753A>T)
c.7693A>T (p.Lys2565Ter)
c.7747A>T (p.Lys2583Ter)
c.231-13308A>T
c.7777A>T (p.Lys2593Ter)
c.7672A>T (p.Lys2558Ter)
c.7663A>T (p.Lys2555Ter)
c.7624A>T (p.Lys2542Ter)
c.7570A>T (p.Lys2524Ter)
c.7474A>T (p.Lys2492Ter)
c.7444A>T (p.Lys2482Ter)
c.7369A>T (p.Lys2457Ter)
c.7267A>T (p.Lys2423Ter)
c.6898A>T (p.Lys2300Ter)
 dbSNP
5g.112843342A=CA1573473406APCc.7802A= (p.Lys2601=)
c.*7754A= (n.*7754A=)
c.7694A= (p.Lys2565=)
c.7748A= (p.Lys2583=)
c.231-13307A=
c.7778A= (p.Lys2593=)
c.7673A= (p.Lys2558=)
c.7664A= (p.Lys2555=)
c.7625A= (p.Lys2542=)
c.7571A= (p.Lys2524=)
c.7475A= (p.Lys2492=)
c.7445A= (p.Lys2482=)
c.7370A= (p.Lys2457=)
c.7268A= (p.Lys2423=)
c.6899A= (p.Lys2300=)
5g.112843342A>CCA16038159APCc.7802A>C (p.Lys2601Thr)
c.*7754A>C (n.*7754A>C)
c.7694A>C (p.Lys2565Thr)
c.7748A>C (p.Lys2583Thr)
c.231-13307A>C
c.7778A>C (p.Lys2593Thr)
c.7673A>C (p.Lys2558Thr)
c.7664A>C (p.Lys2555Thr)
c.7625A>C (p.Lys2542Thr)
c.7571A>C (p.Lys2524Thr)
c.7475A>C (p.Lys2492Thr)
c.7445A>C (p.Lys2482Thr)
c.7370A>C (p.Lys2457Thr)
c.7268A>C (p.Lys2423Thr)
c.6899A>C (p.Lys2300Thr)
5g.112843342A>GCA16038160APCc.7802A>G (p.Lys2601Arg)
c.*7754A>G (n.*7754A>G)
c.7694A>G (p.Lys2565Arg)
c.7748A>G (p.Lys2583Arg)
c.231-13307A>G
c.7778A>G (p.Lys2593Arg)
c.7673A>G (p.Lys2558Arg)
c.7664A>G (p.Lys2555Arg)
c.7625A>G (p.Lys2542Arg)
c.7571A>G (p.Lys2524Arg)
c.7475A>G (p.Lys2492Arg)
c.7445A>G (p.Lys2482Arg)
c.7370A>G (p.Lys2457Arg)
c.7268A>G (p.Lys2423Arg)
c.6899A>G (p.Lys2300Arg)
 ClinVar dbSNP
5g.112843342A>TCA16038161APCc.7802A>T (p.Lys2601Ile)
c.*7754A>T (n.*7754A>T)
c.7694A>T (p.Lys2565Ile)
c.7748A>T (p.Lys2583Ile)
c.231-13307A>T
c.7778A>T (p.Lys2593Ile)
c.7673A>T (p.Lys2558Ile)
c.7664A>T (p.Lys2555Ile)
c.7625A>T (p.Lys2542Ile)
c.7571A>T (p.Lys2524Ile)
c.7475A>T (p.Lys2492Ile)
c.7445A>T (p.Lys2482Ile)
c.7370A>T (p.Lys2457Ile)
c.7268A>T (p.Lys2423Ile)
c.6899A>T (p.Lys2300Ile)
 dbSNP
5g.112843343A=CA1573473415APCc.7803A= (p.Lys2601=)
c.*7755A= (n.*7755A=)
c.7695A= (p.Lys2565=)
c.7749A= (p.Lys2583=)
c.231-13306A=
c.7779A= (p.Lys2593=)
c.7674A= (p.Lys2558=)
c.7665A= (p.Lys2555=)
c.7626A= (p.Lys2542=)
c.7572A= (p.Lys2524=)
c.7476A= (p.Lys2492=)
c.7446A= (p.Lys2482=)
c.7371A= (p.Lys2457=)
c.7269A= (p.Lys2423=)
c.6900A= (p.Lys2300=)
5g.112843343A>CCA16038162APCc.7803A>C (p.Lys2601Asn)
c.*7755A>C (n.*7755A>C)
c.7695A>C (p.Lys2565Asn)
c.7749A>C (p.Lys2583Asn)
c.231-13306A>C
c.7779A>C (p.Lys2593Asn)
c.7674A>C (p.Lys2558Asn)
c.7665A>C (p.Lys2555Asn)
c.7626A>C (p.Lys2542Asn)
c.7572A>C (p.Lys2524Asn)
c.7476A>C (p.Lys2492Asn)
c.7446A>C (p.Lys2482Asn)
c.7371A>C (p.Lys2457Asn)
c.7269A>C (p.Lys2423Asn)
c.6900A>C (p.Lys2300Asn)
 ClinVar dbSNP
5g.112843343A>GCA446211193APCc.7803A>G (p.Lys2601=)
c.*7755A>G (n.*7755A>G)
c.7695A>G (p.Lys2565=)
c.7749A>G (p.Lys2583=)
c.231-13306A>G
c.7779A>G (p.Lys2593=)
c.7674A>G (p.Lys2558=)
c.7665A>G (p.Lys2555=)
c.7626A>G (p.Lys2542=)
c.7572A>G (p.Lys2524=)
c.7476A>G (p.Lys2492=)
c.7446A>G (p.Lys2482=)
c.7371A>G (p.Lys2457=)
c.7269A>G (p.Lys2423=)
c.6900A>G (p.Lys2300=)
 ClinVar dbSNP gnomAD v4
5g.112843343A>TCA16038163APCc.7803A>T (p.Lys2601Asn)
c.*7755A>T (n.*7755A>T)
c.7695A>T (p.Lys2565Asn)
c.7749A>T (p.Lys2583Asn)
c.231-13306A>T
c.7779A>T (p.Lys2593Asn)
c.7674A>T (p.Lys2558Asn)
c.7665A>T (p.Lys2555Asn)
c.7626A>T (p.Lys2542Asn)
c.7572A>T (p.Lys2524Asn)
c.7476A>T (p.Lys2492Asn)
c.7446A>T (p.Lys2482Asn)
c.7371A>T (p.Lys2457Asn)
c.7269A>T (p.Lys2423Asn)
c.6900A>T (p.Lys2300Asn)
 dbSNP
5g.112843344G>ACA049041APCc.7804G>A (p.Ala2602Thr)
c.*7756G>A (n.*7756G>A)
c.7696G>A (p.Ala2566Thr)
c.7750G>A (p.Ala2584Thr)
c.231-13305G>A
c.7780G>A (p.Ala2594Thr)
c.7675G>A (p.Ala2559Thr)
c.7666G>A (p.Ala2556Thr)
c.7627G>A (p.Ala2543Thr)
c.7573G>A (p.Ala2525Thr)
c.7477G>A (p.Ala2493Thr)
c.7447G>A (p.Ala2483Thr)
c.7372G>A (p.Ala2458Thr)
c.7270G>A (p.Ala2424Thr)
c.6901G>A (p.Ala2301Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843344G>CCA16038164APCc.7804G>C (p.Ala2602Pro)
c.*7756G>C (n.*7756G>C)
c.7696G>C (p.Ala2566Pro)
c.7750G>C (p.Ala2584Pro)
c.231-13305G>C
c.7780G>C (p.Ala2594Pro)
c.7675G>C (p.Ala2559Pro)
c.7666G>C (p.Ala2556Pro)
c.7627G>C (p.Ala2543Pro)
c.7573G>C (p.Ala2525Pro)
c.7477G>C (p.Ala2493Pro)
c.7447G>C (p.Ala2483Pro)
c.7372G>C (p.Ala2458Pro)
c.7270G>C (p.Ala2424Pro)
c.6901G>C (p.Ala2301Pro)
 dbSNP
5g.112843344G=CA1573473426APCc.7804G= (p.Ala2602=)
c.*7756G= (n.*7756G=)
c.7696G= (p.Ala2566=)
c.7750G= (p.Ala2584=)
c.231-13305G=
c.7780G= (p.Ala2594=)
c.7675G= (p.Ala2559=)
c.7666G= (p.Ala2556=)
c.7627G= (p.Ala2543=)
c.7573G= (p.Ala2525=)
c.7477G= (p.Ala2493=)
c.7447G= (p.Ala2483=)
c.7372G= (p.Ala2458=)
c.7270G= (p.Ala2424=)
c.6901G= (p.Ala2301=)
5g.112843344G>TCA16038165APCc.7804G>T (p.Ala2602Ser)
c.*7756G>T (n.*7756G>T)
c.7696G>T (p.Ala2566Ser)
c.7750G>T (p.Ala2584Ser)
c.231-13305G>T
c.7780G>T (p.Ala2594Ser)
c.7675G>T (p.Ala2559Ser)
c.7666G>T (p.Ala2556Ser)
c.7627G>T (p.Ala2543Ser)
c.7573G>T (p.Ala2525Ser)
c.7477G>T (p.Ala2493Ser)
c.7447G>T (p.Ala2483Ser)
c.7372G>T (p.Ala2458Ser)
c.7270G>T (p.Ala2424Ser)
c.6901G>T (p.Ala2301Ser)
 ClinVar dbSNP
5g.112843345C>ACA16038166APCc.7805C>A (p.Ala2602Glu)
c.*7757C>A (n.*7757C>A)
c.7697C>A (p.Ala2566Glu)
c.7751C>A (p.Ala2584Glu)
c.231-13304C>A
c.7781C>A (p.Ala2594Glu)
c.7676C>A (p.Ala2559Glu)
c.7667C>A (p.Ala2556Glu)
c.7628C>A (p.Ala2543Glu)
c.7574C>A (p.Ala2525Glu)
c.7478C>A (p.Ala2493Glu)
c.7448C>A (p.Ala2483Glu)
c.7373C>A (p.Ala2458Glu)
c.7271C>A (p.Ala2424Glu)
c.6902C>A (p.Ala2301Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112843345C=CA1573473434APCc.7805C= (p.Ala2602=)
c.*7757C= (n.*7757C=)
c.7697C= (p.Ala2566=)
c.7751C= (p.Ala2584=)
c.231-13304C=
c.7781C= (p.Ala2594=)
c.7676C= (p.Ala2559=)
c.7667C= (p.Ala2556=)
c.7628C= (p.Ala2543=)
c.7574C= (p.Ala2525=)
c.7478C= (p.Ala2493=)
c.7448C= (p.Ala2483=)
c.7373C= (p.Ala2458=)
c.7271C= (p.Ala2424=)
c.6902C= (p.Ala2301=)
5g.112843345C>GCA16038167APCc.7805C>G (p.Ala2602Gly)
c.*7757C>G (n.*7757C>G)
c.7697C>G (p.Ala2566Gly)
c.7751C>G (p.Ala2584Gly)
c.231-13304C>G
c.7781C>G (p.Ala2594Gly)
c.7676C>G (p.Ala2559Gly)
c.7667C>G (p.Ala2556Gly)
c.7628C>G (p.Ala2543Gly)
c.7574C>G (p.Ala2525Gly)
c.7478C>G (p.Ala2493Gly)
c.7448C>G (p.Ala2483Gly)
c.7373C>G (p.Ala2458Gly)
c.7271C>G (p.Ala2424Gly)
c.6902C>G (p.Ala2301Gly)
5g.112843345C>TCA16038168APCc.7805C>T (p.Ala2602Val)
c.*7757C>T (n.*7757C>T)
c.7697C>T (p.Ala2566Val)
c.7751C>T (p.Ala2584Val)
c.231-13304C>T
c.7781C>T (p.Ala2594Val)
c.7676C>T (p.Ala2559Val)
c.7667C>T (p.Ala2556Val)
c.7628C>T (p.Ala2543Val)
c.7574C>T (p.Ala2525Val)
c.7478C>T (p.Ala2493Val)
c.7448C>T (p.Ala2483Val)
c.7373C>T (p.Ala2458Val)
c.7271C>T (p.Ala2424Val)
c.6902C>T (p.Ala2301Val)
5g.112843346A>CCA446211195APCc.7806A>C (p.Ala2602=)
c.*7758A>C (n.*7758A>C)
c.7698A>C (p.Ala2566=)
c.7752A>C (p.Ala2584=)
c.231-13303A>C
c.7782A>C (p.Ala2594=)
c.7677A>C (p.Ala2559=)
c.7668A>C (p.Ala2556=)
c.7629A>C (p.Ala2543=)
c.7575A>C (p.Ala2525=)
c.7479A>C (p.Ala2493=)
c.7449A>C (p.Ala2483=)
c.7374A>C (p.Ala2458=)
c.7272A>C (p.Ala2424=)
c.6903A>C (p.Ala2301=)
5g.112843346A>GCA446211197APCc.7806A>G (p.Ala2602=)
c.*7758A>G (n.*7758A>G)
c.7698A>G (p.Ala2566=)
c.7752A>G (p.Ala2584=)
c.231-13303A>G
c.7782A>G (p.Ala2594=)
c.7677A>G (p.Ala2559=)
c.7668A>G (p.Ala2556=)
c.7629A>G (p.Ala2543=)
c.7575A>G (p.Ala2525=)
c.7479A>G (p.Ala2493=)
c.7449A>G (p.Ala2483=)
c.7374A>G (p.Ala2458=)
c.7272A>G (p.Ala2424=)
c.6903A>G (p.Ala2301=)
 ClinVar dbSNP gnomAD v4
5g.112843346A>TCA446211196APCc.7806A>T (p.Ala2602=)
c.*7758A>T (n.*7758A>T)
c.7698A>T (p.Ala2566=)
c.7752A>T (p.Ala2584=)
c.231-13303A>T
c.7782A>T (p.Ala2594=)
c.7677A>T (p.Ala2559=)
c.7668A>T (p.Ala2556=)
c.7629A>T (p.Ala2543=)
c.7575A>T (p.Ala2525=)
c.7479A>T (p.Ala2493=)
c.7449A>T (p.Ala2483=)
c.7374A>T (p.Ala2458=)
c.7272A>T (p.Ala2424=)
c.6903A>T (p.Ala2301=)
 dbSNP
5g.112843350delCA645554612APCc.7810del (p.Ser2604ValfsTer7)
c.*7762del (n.*7762del)
c.7702del (p.Ser2568ValfsTer7)
c.7756del (p.Ser2586ValfsTer7)
c.231-13299del
c.7786del (p.Ser2596ValfsTer7)
c.7681del (p.Ser2561ValfsTer7)
c.7672del (p.Ser2558ValfsTer7)
c.7633del (p.Ser2545ValfsTer7)
c.7579del (p.Ser2527ValfsTer7)
c.7483del (p.Ser2495ValfsTer7)
c.7453del (p.Ser2485ValfsTer7)
c.7378del (p.Ser2460ValfsTer7)
c.7276del (p.Ser2426ValfsTer7)
c.6907del (p.Ser2303ValfsTer7)
 COSMIC
5g.112843347A=CA1573473438APCc.7807A= (p.Lys2603=)
c.*7759A= (n.*7759A=)
c.7699A= (p.Lys2567=)
c.7753A= (p.Lys2585=)
c.231-13302A=
c.7783A= (p.Lys2595=)
c.7678A= (p.Lys2560=)
c.7669A= (p.Lys2557=)
c.7630A= (p.Lys2544=)
c.7576A= (p.Lys2526=)
c.7480A= (p.Lys2494=)
c.7450A= (p.Lys2484=)
c.7375A= (p.Lys2459=)
c.7273A= (p.Lys2425=)
c.6904A= (p.Lys2302=)
5g.112843347A>CCA16038169APCc.7807A>C (p.Lys2603Gln)
c.*7759A>C (n.*7759A>C)
c.7699A>C (p.Lys2567Gln)
c.7753A>C (p.Lys2585Gln)
c.231-13302A>C
c.7783A>C (p.Lys2595Gln)
c.7678A>C (p.Lys2560Gln)
c.7669A>C (p.Lys2557Gln)
c.7630A>C (p.Lys2544Gln)
c.7576A>C (p.Lys2526Gln)
c.7480A>C (p.Lys2494Gln)
c.7450A>C (p.Lys2484Gln)
c.7375A>C (p.Lys2459Gln)
c.7273A>C (p.Lys2425Gln)
c.6904A>C (p.Lys2302Gln)
5g.112843347A>GCA16038170APCc.7807A>G (p.Lys2603Glu)
c.*7759A>G (n.*7759A>G)
c.7699A>G (p.Lys2567Glu)
c.7753A>G (p.Lys2585Glu)
c.231-13302A>G
c.7783A>G (p.Lys2595Glu)
c.7678A>G (p.Lys2560Glu)
c.7669A>G (p.Lys2557Glu)
c.7630A>G (p.Lys2544Glu)
c.7576A>G (p.Lys2526Glu)
c.7480A>G (p.Lys2494Glu)
c.7450A>G (p.Lys2484Glu)
c.7375A>G (p.Lys2459Glu)
c.7273A>G (p.Lys2425Glu)
c.6904A>G (p.Lys2302Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112843347A>TCA16038171APCc.7807A>T (p.Lys2603Ter)
c.*7759A>T (n.*7759A>T)
c.7699A>T (p.Lys2567Ter)
c.7753A>T (p.Lys2585Ter)
c.231-13302A>T
c.7783A>T (p.Lys2595Ter)
c.7678A>T (p.Lys2560Ter)
c.7669A>T (p.Lys2557Ter)
c.7630A>T (p.Lys2544Ter)
c.7576A>T (p.Lys2526Ter)
c.7480A>T (p.Lys2494Ter)
c.7450A>T (p.Lys2484Ter)
c.7375A>T (p.Lys2459Ter)
c.7273A>T (p.Lys2425Ter)
c.6904A>T (p.Lys2302Ter)
 dbSNP
5g.112843348A=CA1573473448APCc.7808A= (p.Lys2603=)
c.*7760A= (n.*7760A=)
c.7700A= (p.Lys2567=)
c.7754A= (p.Lys2585=)
c.231-13301A=
c.7784A= (p.Lys2595=)
c.7679A= (p.Lys2560=)
c.7670A= (p.Lys2557=)
c.7631A= (p.Lys2544=)
c.7577A= (p.Lys2526=)
c.7481A= (p.Lys2494=)
c.7451A= (p.Lys2484=)
c.7376A= (p.Lys2459=)
c.7274A= (p.Lys2425=)
c.6905A= (p.Lys2302=)
5g.112843348A>CCA10578450APCc.7808A>C (p.Lys2603Thr)
c.*7760A>C (n.*7760A>C)
c.7700A>C (p.Lys2567Thr)
c.7754A>C (p.Lys2585Thr)
c.231-13301A>C
c.7784A>C (p.Lys2595Thr)
c.7679A>C (p.Lys2560Thr)
c.7670A>C (p.Lys2557Thr)
c.7631A>C (p.Lys2544Thr)
c.7577A>C (p.Lys2526Thr)
c.7481A>C (p.Lys2494Thr)
c.7451A>C (p.Lys2484Thr)
c.7376A>C (p.Lys2459Thr)
c.7274A>C (p.Lys2425Thr)
c.6905A>C (p.Lys2302Thr)
 ClinVar dbSNP gnomAD v4
5g.112843348A>GCA16038172APCc.7808A>G (p.Lys2603Arg)
c.*7760A>G (n.*7760A>G)
c.7700A>G (p.Lys2567Arg)
c.7754A>G (p.Lys2585Arg)
c.231-13301A>G
c.7784A>G (p.Lys2595Arg)
c.7679A>G (p.Lys2560Arg)
c.7670A>G (p.Lys2557Arg)
c.7631A>G (p.Lys2544Arg)
c.7577A>G (p.Lys2526Arg)
c.7481A>G (p.Lys2494Arg)
c.7451A>G (p.Lys2484Arg)
c.7376A>G (p.Lys2459Arg)
c.7274A>G (p.Lys2425Arg)
c.6905A>G (p.Lys2302Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112843348A>TCA16038173APCc.7808A>T (p.Lys2603Ile)
c.*7760A>T (n.*7760A>T)
c.7700A>T (p.Lys2567Ile)
c.7754A>T (p.Lys2585Ile)
c.231-13301A>T
c.7784A>T (p.Lys2595Ile)
c.7679A>T (p.Lys2560Ile)
c.7670A>T (p.Lys2557Ile)
c.7631A>T (p.Lys2544Ile)
c.7577A>T (p.Lys2526Ile)
c.7481A>T (p.Lys2494Ile)
c.7451A>T (p.Lys2484Ile)
c.7376A>T (p.Lys2459Ile)
c.7274A>T (p.Lys2425Ile)
c.6905A>T (p.Lys2302Ile)
 dbSNP COSMIC
5g.112843349A>CCA16038174APCc.7809A>C (p.Lys2603Asn)
c.*7761A>C (n.*7761A>C)
c.7701A>C (p.Lys2567Asn)
c.7755A>C (p.Lys2585Asn)
c.231-13300A>C
c.7785A>C (p.Lys2595Asn)
c.7680A>C (p.Lys2560Asn)
c.7671A>C (p.Lys2557Asn)
c.7632A>C (p.Lys2544Asn)
c.7578A>C (p.Lys2526Asn)
c.7482A>C (p.Lys2494Asn)
c.7452A>C (p.Lys2484Asn)
c.7377A>C (p.Lys2459Asn)
c.7275A>C (p.Lys2425Asn)
c.6906A>C (p.Lys2302Asn)
5g.112843349A>GCA446211200APCc.7809A>G (p.Lys2603=)
c.*7761A>G (n.*7761A>G)
c.7701A>G (p.Lys2567=)
c.7755A>G (p.Lys2585=)
c.231-13300A>G
c.7785A>G (p.Lys2595=)
c.7680A>G (p.Lys2560=)
c.7671A>G (p.Lys2557=)
c.7632A>G (p.Lys2544=)
c.7578A>G (p.Lys2526=)
c.7482A>G (p.Lys2494=)
c.7452A>G (p.Lys2484=)
c.7377A>G (p.Lys2459=)
c.7275A>G (p.Lys2425=)
c.6906A>G (p.Lys2302=)
5g.112843349A>TCA16038175APCc.7809A>T (p.Lys2603Asn)
c.*7761A>T (n.*7761A>T)
c.7701A>T (p.Lys2567Asn)
c.7755A>T (p.Lys2585Asn)
c.231-13300A>T
c.7785A>T (p.Lys2595Asn)
c.7680A>T (p.Lys2560Asn)
c.7671A>T (p.Lys2557Asn)
c.7632A>T (p.Lys2544Asn)
c.7578A>T (p.Lys2526Asn)
c.7482A>T (p.Lys2494Asn)
c.7452A>T (p.Lys2484Asn)
c.7377A>T (p.Lys2459Asn)
c.7275A>T (p.Lys2425Asn)
c.6906A>T (p.Lys2302Asn)
5g.112843350A>CCA16038176APCc.7810A>C (p.Ser2604Arg)
c.*7762A>C (n.*7762A>C)
c.7702A>C (p.Ser2568Arg)
c.7756A>C (p.Ser2586Arg)
c.231-13299A>C
c.7786A>C (p.Ser2596Arg)
c.7681A>C (p.Ser2561Arg)
c.7672A>C (p.Ser2558Arg)
c.7633A>C (p.Ser2545Arg)
c.7579A>C (p.Ser2527Arg)
c.7483A>C (p.Ser2495Arg)
c.7453A>C (p.Ser2485Arg)
c.7378A>C (p.Ser2460Arg)
c.7276A>C (p.Ser2426Arg)
c.6907A>C (p.Ser2303Arg)
5g.112843350A>GCA16038177APCc.7810A>G (p.Ser2604Gly)
c.*7762A>G (n.*7762A>G)
c.7702A>G (p.Ser2568Gly)
c.7756A>G (p.Ser2586Gly)
c.231-13299A>G
c.7786A>G (p.Ser2596Gly)
c.7681A>G (p.Ser2561Gly)
c.7672A>G (p.Ser2558Gly)
c.7633A>G (p.Ser2545Gly)
c.7579A>G (p.Ser2527Gly)
c.7483A>G (p.Ser2495Gly)
c.7453A>G (p.Ser2485Gly)
c.7378A>G (p.Ser2460Gly)
c.7276A>G (p.Ser2426Gly)
c.6907A>G (p.Ser2303Gly)
5g.112843350A>TCA16038178APCc.7810A>T (p.Ser2604Cys)
c.*7762A>T (n.*7762A>T)
c.7702A>T (p.Ser2568Cys)
c.7756A>T (p.Ser2586Cys)
c.231-13299A>T
c.7786A>T (p.Ser2596Cys)
c.7681A>T (p.Ser2561Cys)
c.7672A>T (p.Ser2558Cys)
c.7633A>T (p.Ser2545Cys)
c.7579A>T (p.Ser2527Cys)
c.7483A>T (p.Ser2495Cys)
c.7453A>T (p.Ser2485Cys)
c.7378A>T (p.Ser2460Cys)
c.7276A>T (p.Ser2426Cys)
c.6907A>T (p.Ser2303Cys)
5g.112843351delCA2709988817APCc.7811del (p.Ser2604MetfsTer7)
c.*7763del (n.*7763del)
c.7703del (p.Ser2568MetfsTer7)
c.7757del (p.Ser2586MetfsTer7)
c.231-13298del
c.7787del (p.Ser2596MetfsTer7)
c.7682del (p.Ser2561MetfsTer7)
c.7673del (p.Ser2558MetfsTer7)
c.7634del (p.Ser2545MetfsTer7)
c.7580del (p.Ser2527MetfsTer7)
c.7484del (p.Ser2495MetfsTer7)
c.7454del (p.Ser2485MetfsTer7)
c.7379del (p.Ser2460MetfsTer7)
c.7277del (p.Ser2426MetfsTer7)
c.6908del (p.Ser2303MetfsTer7)
 dbSNP
5g.112843351G>ACA16038179APCc.7811G>A (p.Ser2604Asn)
c.*7763G>A (n.*7763G>A)
c.7703G>A (p.Ser2568Asn)
c.7757G>A (p.Ser2586Asn)
c.231-13298G>A
c.7787G>A (p.Ser2596Asn)
c.7682G>A (p.Ser2561Asn)
c.7673G>A (p.Ser2558Asn)
c.7634G>A (p.Ser2545Asn)
c.7580G>A (p.Ser2527Asn)
c.7484G>A (p.Ser2495Asn)
c.7454G>A (p.Ser2485Asn)
c.7379G>A (p.Ser2460Asn)
c.7277G>A (p.Ser2426Asn)
c.6908G>A (p.Ser2303Asn)
 ClinVar dbSNP gnomAD v4
5g.112843351G>CCA16038180APCc.7811G>C (p.Ser2604Thr)
c.*7763G>C (n.*7763G>C)
c.7703G>C (p.Ser2568Thr)
c.7757G>C (p.Ser2586Thr)
c.231-13298G>C
c.7787G>C (p.Ser2596Thr)
c.7682G>C (p.Ser2561Thr)
c.7673G>C (p.Ser2558Thr)
c.7634G>C (p.Ser2545Thr)
c.7580G>C (p.Ser2527Thr)
c.7484G>C (p.Ser2495Thr)
c.7454G>C (p.Ser2485Thr)
c.7379G>C (p.Ser2460Thr)
c.7277G>C (p.Ser2426Thr)
c.6908G>C (p.Ser2303Thr)
 dbSNP
5g.112843351G=CA1573473452APCc.7811G= (p.Ser2604=)
c.*7763G= (n.*7763G=)
c.7703G= (p.Ser2568=)
c.7757G= (p.Ser2586=)
c.231-13298G=
c.7787G= (p.Ser2596=)
c.7682G= (p.Ser2561=)
c.7673G= (p.Ser2558=)
c.7634G= (p.Ser2545=)
c.7580G= (p.Ser2527=)
c.7484G= (p.Ser2495=)
c.7454G= (p.Ser2485=)
c.7379G= (p.Ser2460=)
c.7277G= (p.Ser2426=)
c.6908G= (p.Ser2303=)
5g.112843351G>TCA014009APCc.7811G>T (p.Ser2604Ile)
c.*7763G>T (n.*7763G>T)
c.7703G>T (p.Ser2568Ile)
c.7757G>T (p.Ser2586Ile)
c.231-13298G>T
c.7787G>T (p.Ser2596Ile)
c.7682G>T (p.Ser2561Ile)
c.7673G>T (p.Ser2558Ile)
c.7634G>T (p.Ser2545Ile)
c.7580G>T (p.Ser2527Ile)
c.7484G>T (p.Ser2495Ile)
c.7454G>T (p.Ser2485Ile)
c.7379G>T (p.Ser2460Ile)
c.7277G>T (p.Ser2426Ile)
c.6908G>T (p.Ser2303Ile)
 ClinVar dbSNP gnomAD v4
5g.112843352T>ACA16038181APCc.7812T>A (p.Ser2604Arg)
c.*7764T>A (n.*7764T>A)
c.7704T>A (p.Ser2568Arg)
c.7758T>A (p.Ser2586Arg)
c.231-13297T>A
c.7788T>A (p.Ser2596Arg)
c.7683T>A (p.Ser2561Arg)
c.7674T>A (p.Ser2558Arg)
c.7635T>A (p.Ser2545Arg)
c.7581T>A (p.Ser2527Arg)
c.7485T>A (p.Ser2495Arg)
c.7455T>A (p.Ser2485Arg)
c.7380T>A (p.Ser2460Arg)
c.7278T>A (p.Ser2426Arg)
c.6909T>A (p.Ser2303Arg)
 dbSNP
5g.112843352T>CCA446211202APCc.7812T>C (p.Ser2604=)
c.*7764T>C (n.*7764T>C)
c.7704T>C (p.Ser2568=)
c.7758T>C (p.Ser2586=)
c.231-13297T>C
c.7788T>C (p.Ser2596=)
c.7683T>C (p.Ser2561=)
c.7674T>C (p.Ser2558=)
c.7635T>C (p.Ser2545=)
c.7581T>C (p.Ser2527=)
c.7485T>C (p.Ser2495=)
c.7455T>C (p.Ser2485=)
c.7380T>C (p.Ser2460=)
c.7278T>C (p.Ser2426=)
c.6909T>C (p.Ser2303=)
5g.112843352T>GCA16038182APCc.7812T>G (p.Ser2604Arg)
c.*7764T>G (n.*7764T>G)
c.7704T>G (p.Ser2568Arg)
c.7758T>G (p.Ser2586Arg)
c.231-13297T>G
c.7788T>G (p.Ser2596Arg)
c.7683T>G (p.Ser2561Arg)
c.7674T>G (p.Ser2558Arg)
c.7635T>G (p.Ser2545Arg)
c.7581T>G (p.Ser2527Arg)
c.7485T>G (p.Ser2495Arg)
c.7455T>G (p.Ser2485Arg)
c.7380T>G (p.Ser2460Arg)
c.7278T>G (p.Ser2426Arg)
c.6909T>G (p.Ser2303Arg)
 dbSNP
5g.112843352T=CA1573473463APCc.7812T= (p.Ser2604=)
c.*7764T= (n.*7764T=)
c.7704T= (p.Ser2568=)
c.7758T= (p.Ser2586=)
c.231-13297T=
c.7788T= (p.Ser2596=)
c.7683T= (p.Ser2561=)
c.7674T= (p.Ser2558=)
c.7635T= (p.Ser2545=)
c.7581T= (p.Ser2527=)
c.7485T= (p.Ser2495=)
c.7455T= (p.Ser2485=)
c.7380T= (p.Ser2460=)
c.7278T= (p.Ser2426=)
c.6909T= (p.Ser2303=)
5g.112843353G>ACA049054APCc.7813G>A (p.Glu2605Lys)
c.*7765G>A (n.*7765G>A)
c.7705G>A (p.Glu2569Lys)
c.7759G>A (p.Glu2587Lys)
c.231-13296G>A
c.7789G>A (p.Glu2597Lys)
c.7684G>A (p.Glu2562Lys)
c.7675G>A (p.Glu2559Lys)
c.7636G>A (p.Glu2546Lys)
c.7582G>A (p.Glu2528Lys)
c.7486G>A (p.Glu2496Lys)
c.7456G>A (p.Glu2486Lys)
c.7381G>A (p.Glu2461Lys)
c.7279G>A (p.Glu2427Lys)
c.6910G>A (p.Glu2304Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
5g.112843353G>CCA16038183APCc.7813G>C (p.Glu2605Gln)
c.*7765G>C (n.*7765G>C)
c.7705G>C (p.Glu2569Gln)
c.7759G>C (p.Glu2587Gln)
c.231-13296G>C
c.7789G>C (p.Glu2597Gln)
c.7684G>C (p.Glu2562Gln)
c.7675G>C (p.Glu2559Gln)
c.7636G>C (p.Glu2546Gln)
c.7582G>C (p.Glu2528Gln)
c.7486G>C (p.Glu2496Gln)
c.7456G>C (p.Glu2486Gln)
c.7381G>C (p.Glu2461Gln)
c.7279G>C (p.Glu2427Gln)
c.6910G>C (p.Glu2304Gln)
 dbSNP
5g.112843353G=CA1573473469APCc.7813G= (p.Glu2605=)
c.*7765G= (n.*7765G=)
c.7705G= (p.Glu2569=)
c.7759G= (p.Glu2587=)
c.231-13296G=
c.7789G= (p.Glu2597=)
c.7684G= (p.Glu2562=)
c.7675G= (p.Glu2559=)
c.7636G= (p.Glu2546=)
c.7582G= (p.Glu2528=)
c.7486G= (p.Glu2496=)
c.7456G= (p.Glu2486=)
c.7381G= (p.Glu2461=)
c.7279G= (p.Glu2427=)
c.6910G= (p.Glu2304=)
5g.112843353G>TCA16038184APCc.7813G>T (p.Glu2605Ter)
c.*7765G>T (n.*7765G>T)
c.7705G>T (p.Glu2569Ter)
c.7759G>T (p.Glu2587Ter)
c.231-13296G>T
c.7789G>T (p.Glu2597Ter)
c.7684G>T (p.Glu2562Ter)
c.7675G>T (p.Glu2559Ter)
c.7636G>T (p.Glu2546Ter)
c.7582G>T (p.Glu2528Ter)
c.7486G>T (p.Glu2496Ter)
c.7456G>T (p.Glu2486Ter)
c.7381G>T (p.Glu2461Ter)
c.7279G>T (p.Glu2427Ter)
c.6910G>T (p.Glu2304Ter)
5g.112843354A>CCA16038185APCc.7814A>C (p.Glu2605Ala)
c.*7766A>C (n.*7766A>C)
c.7706A>C (p.Glu2569Ala)
c.7760A>C (p.Glu2587Ala)
c.231-13295A>C
c.7790A>C (p.Glu2597Ala)
c.7685A>C (p.Glu2562Ala)
c.7676A>C (p.Glu2559Ala)
c.7637A>C (p.Glu2546Ala)
c.7583A>C (p.Glu2528Ala)
c.7487A>C (p.Glu2496Ala)
c.7457A>C (p.Glu2486Ala)
c.7382A>C (p.Glu2461Ala)
c.7280A>C (p.Glu2427Ala)
c.6911A>C (p.Glu2304Ala)
5g.112843354A>GCA16038186APCc.7814A>G (p.Glu2605Gly)
c.*7766A>G (n.*7766A>G)
c.7706A>G (p.Glu2569Gly)
c.7760A>G (p.Glu2587Gly)
c.231-13295A>G
c.7790A>G (p.Glu2597Gly)
c.7685A>G (p.Glu2562Gly)
c.7676A>G (p.Glu2559Gly)
c.7637A>G (p.Glu2546Gly)
c.7583A>G (p.Glu2528Gly)
c.7487A>G (p.Glu2496Gly)
c.7457A>G (p.Glu2486Gly)
c.7382A>G (p.Glu2461Gly)
c.7280A>G (p.Glu2427Gly)
c.6911A>G (p.Glu2304Gly)
5g.112843354A>TCA16038187APCc.7814A>T (p.Glu2605Val)
c.*7766A>T (n.*7766A>T)
c.7706A>T (p.Glu2569Val)
c.7760A>T (p.Glu2587Val)
c.231-13295A>T
c.7790A>T (p.Glu2597Val)
c.7685A>T (p.Glu2562Val)
c.7676A>T (p.Glu2559Val)
c.7637A>T (p.Glu2546Val)
c.7583A>T (p.Glu2528Val)
c.7487A>T (p.Glu2496Val)
c.7457A>T (p.Glu2486Val)
c.7382A>T (p.Glu2461Val)
c.7280A>T (p.Glu2427Val)
c.6911A>T (p.Glu2304Val)
 ClinVar gnomAD v4
5g.112843355G>ACA446211206APCc.7815G>A (p.Glu2605=)
c.*7767G>A (n.*7767G>A)
c.7707G>A (p.Glu2569=)
c.7761G>A (p.Glu2587=)
c.231-13294G>A
c.7791G>A (p.Glu2597=)
c.7686G>A (p.Glu2562=)
c.7677G>A (p.Glu2559=)
c.7638G>A (p.Glu2546=)
c.7584G>A (p.Glu2528=)
c.7488G>A (p.Glu2496=)
c.7458G>A (p.Glu2486=)
c.7383G>A (p.Glu2461=)
c.7281G>A (p.Glu2427=)
c.6912G>A (p.Glu2304=)
 ClinVar dbSNP gnomAD v4
5g.112843355G>CCA16038188APCc.7815G>C (p.Glu2605Asp)
c.*7767G>C (n.*7767G>C)
c.7707G>C (p.Glu2569Asp)
c.7761G>C (p.Glu2587Asp)
c.231-13294G>C
c.7791G>C (p.Glu2597Asp)
c.7686G>C (p.Glu2562Asp)
c.7677G>C (p.Glu2559Asp)
c.7638G>C (p.Glu2546Asp)
c.7584G>C (p.Glu2528Asp)
c.7488G>C (p.Glu2496Asp)
c.7458G>C (p.Glu2486Asp)
c.7383G>C (p.Glu2461Asp)
c.7281G>C (p.Glu2427Asp)
c.6912G>C (p.Glu2304Asp)
 dbSNP
5g.112843355G=CA1573473476APCc.7815G= (p.Glu2605=)
c.*7767G= (n.*7767G=)
c.7707G= (p.Glu2569=)
c.7761G= (p.Glu2587=)
c.231-13294G=
c.7791G= (p.Glu2597=)
c.7686G= (p.Glu2562=)
c.7677G= (p.Glu2559=)
c.7638G= (p.Glu2546=)
c.7584G= (p.Glu2528=)
c.7488G= (p.Glu2496=)
c.7458G= (p.Glu2486=)
c.7383G= (p.Glu2461=)
c.7281G= (p.Glu2427=)
c.6912G= (p.Glu2304=)
5g.112843355G>TCA16038189APCc.7815G>T (p.Glu2605Asp)
c.*7767G>T (n.*7767G>T)
c.7707G>T (p.Glu2569Asp)
c.7761G>T (p.Glu2587Asp)
c.231-13294G>T
c.7791G>T (p.Glu2597Asp)
c.7686G>T (p.Glu2562Asp)
c.7677G>T (p.Glu2559Asp)
c.7638G>T (p.Glu2546Asp)
c.7584G>T (p.Glu2528Asp)
c.7488G>T (p.Glu2496Asp)
c.7458G>T (p.Glu2486Asp)
c.7383G>T (p.Glu2461Asp)
c.7281G>T (p.Glu2427Asp)
c.6912G>T (p.Glu2304Asp)
 dbSNP
5g.112843356G>ACA16038190APCc.7816G>A (p.Asp2606Asn)
c.*7768G>A (n.*7768G>A)
c.7708G>A (p.Asp2570Asn)
c.7762G>A (p.Asp2588Asn)
c.231-13293G>A
c.7792G>A (p.Asp2598Asn)
c.7687G>A (p.Asp2563Asn)
c.7678G>A (p.Asp2560Asn)
c.7639G>A (p.Asp2547Asn)
c.7585G>A (p.Asp2529Asn)
c.7489G>A (p.Asp2497Asn)
c.7459G>A (p.Asp2487Asn)
c.7384G>A (p.Asp2462Asn)
c.7282G>A (p.Asp2428Asn)
c.6913G>A (p.Asp2305Asn)
 dbSNP
5g.112843356G>CCA16038191APCc.7816G>C (p.Asp2606His)
c.*7768G>C (n.*7768G>C)
c.7708G>C (p.Asp2570His)
c.7762G>C (p.Asp2588His)
c.231-13293G>C
c.7792G>C (p.Asp2598His)
c.7687G>C (p.Asp2563His)
c.7678G>C (p.Asp2560His)
c.7639G>C (p.Asp2547His)
c.7585G>C (p.Asp2529His)
c.7489G>C (p.Asp2497His)
c.7459G>C (p.Asp2487His)
c.7384G>C (p.Asp2462His)
c.7282G>C (p.Asp2428His)
c.6913G>C (p.Asp2305His)
 dbSNP
5g.112843356G>TCA16038192APCc.7816G>T (p.Asp2606Tyr)
c.*7768G>T (n.*7768G>T)
c.7708G>T (p.Asp2570Tyr)
c.7762G>T (p.Asp2588Tyr)
c.231-13293G>T
c.7792G>T (p.Asp2598Tyr)
c.7687G>T (p.Asp2563Tyr)
c.7678G>T (p.Asp2560Tyr)
c.7639G>T (p.Asp2547Tyr)
c.7585G>T (p.Asp2529Tyr)
c.7489G>T (p.Asp2497Tyr)
c.7459G>T (p.Asp2487Tyr)
c.7384G>T (p.Asp2462Tyr)
c.7282G>T (p.Asp2428Tyr)
c.6913G>T (p.Asp2305Tyr)
 dbSNP
5g.112843357A=CA1573473479APCc.7817A= (p.Asp2606=)
c.*7769A= (n.*7769A=)
c.7709A= (p.Asp2570=)
c.7763A= (p.Asp2588=)
c.231-13292A=
c.7793A= (p.Asp2598=)
c.7688A= (p.Asp2563=)
c.7679A= (p.Asp2560=)
c.7640A= (p.Asp2547=)
c.7586A= (p.Asp2529=)
c.7490A= (p.Asp2497=)
c.7460A= (p.Asp2487=)
c.7385A= (p.Asp2462=)
c.7283A= (p.Asp2428=)
c.6914A= (p.Asp2305=)
5g.112843357A>CCA16038193APCc.7817A>C (p.Asp2606Ala)
c.*7769A>C (n.*7769A>C)
c.7709A>C (p.Asp2570Ala)
c.7763A>C (p.Asp2588Ala)
c.231-13292A>C
c.7793A>C (p.Asp2598Ala)
c.7688A>C (p.Asp2563Ala)
c.7679A>C (p.Asp2560Ala)
c.7640A>C (p.Asp2547Ala)
c.7586A>C (p.Asp2529Ala)
c.7490A>C (p.Asp2497Ala)
c.7460A>C (p.Asp2487Ala)
c.7385A>C (p.Asp2462Ala)
c.7283A>C (p.Asp2428Ala)
c.6914A>C (p.Asp2305Ala)
5g.112843357A>GCA16038194APCc.7817A>G (p.Asp2606Gly)
c.*7769A>G (n.*7769A>G)
c.7709A>G (p.Asp2570Gly)
c.7763A>G (p.Asp2588Gly)
c.231-13292A>G
c.7793A>G (p.Asp2598Gly)
c.7688A>G (p.Asp2563Gly)
c.7679A>G (p.Asp2560Gly)
c.7640A>G (p.Asp2547Gly)
c.7586A>G (p.Asp2529Gly)
c.7490A>G (p.Asp2497Gly)
c.7460A>G (p.Asp2487Gly)
c.7385A>G (p.Asp2462Gly)
c.7283A>G (p.Asp2428Gly)
c.6914A>G (p.Asp2305Gly)
 ClinVar dbSNP gnomAD v4
5g.112843357A>TCA16038195APCc.7817A>T (p.Asp2606Val)
c.*7769A>T (n.*7769A>T)
c.7709A>T (p.Asp2570Val)
c.7763A>T (p.Asp2588Val)
c.231-13292A>T
c.7793A>T (p.Asp2598Val)
c.7688A>T (p.Asp2563Val)
c.7679A>T (p.Asp2560Val)
c.7640A>T (p.Asp2547Val)
c.7586A>T (p.Asp2529Val)
c.7490A>T (p.Asp2497Val)
c.7460A>T (p.Asp2487Val)
c.7385A>T (p.Asp2462Val)
c.7283A>T (p.Asp2428Val)
c.6914A>T (p.Asp2305Val)
 dbSNP gnomAD v4
5g.112843358T>ACA16038196APCc.7818T>A (p.Asp2606Glu)
c.*7770T>A (n.*7770T>A)
c.7710T>A (p.Asp2570Glu)
c.7764T>A (p.Asp2588Glu)
c.231-13291T>A
c.7794T>A (p.Asp2598Glu)
c.7689T>A (p.Asp2563Glu)
c.7680T>A (p.Asp2560Glu)
c.7641T>A (p.Asp2547Glu)
c.7587T>A (p.Asp2529Glu)
c.7491T>A (p.Asp2497Glu)
c.7461T>A (p.Asp2487Glu)
c.7386T>A (p.Asp2462Glu)
c.7284T>A (p.Asp2428Glu)
c.6915T>A (p.Asp2305Glu)
 ClinVar dbSNP
5g.112843358T>CCA446211207APCc.7818T>C (p.Asp2606=)
c.*7770T>C (n.*7770T>C)
c.7710T>C (p.Asp2570=)
c.7764T>C (p.Asp2588=)
c.231-13291T>C
c.7794T>C (p.Asp2598=)
c.7689T>C (p.Asp2563=)
c.7680T>C (p.Asp2560=)
c.7641T>C (p.Asp2547=)
c.7587T>C (p.Asp2529=)
c.7491T>C (p.Asp2497=)
c.7461T>C (p.Asp2487=)
c.7386T>C (p.Asp2462=)
c.7284T>C (p.Asp2428=)
c.6915T>C (p.Asp2305=)
5g.112843358T>GCA049085APCc.7818T>G (p.Asp2606Glu)
c.*7770T>G (n.*7770T>G)
c.7710T>G (p.Asp2570Glu)
c.7764T>G (p.Asp2588Glu)
c.231-13291T>G
c.7794T>G (p.Asp2598Glu)
c.7689T>G (p.Asp2563Glu)
c.7680T>G (p.Asp2560Glu)
c.7641T>G (p.Asp2547Glu)
c.7587T>G (p.Asp2529Glu)
c.7491T>G (p.Asp2497Glu)
c.7461T>G (p.Asp2487Glu)
c.7386T>G (p.Asp2462Glu)
c.7284T>G (p.Asp2428Glu)
c.6915T>G (p.Asp2305Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112843358T=CA1573473485APCc.7818T= (p.Asp2606=)
c.*7770T= (n.*7770T=)
c.7710T= (p.Asp2570=)
c.7764T= (p.Asp2588=)
c.231-13291T=
c.7794T= (p.Asp2598=)
c.7689T= (p.Asp2563=)
c.7680T= (p.Asp2560=)
c.7641T= (p.Asp2547=)
c.7587T= (p.Asp2529=)
c.7491T= (p.Asp2497=)
c.7461T= (p.Asp2487=)
c.7386T= (p.Asp2462=)
c.7284T= (p.Asp2428=)
c.6915T= (p.Asp2305=)
5g.112843359G>ACA16038197APCc.7819G>A (p.Glu2607Lys)
c.*7771G>A (n.*7771G>A)
c.7711G>A (p.Glu2571Lys)
c.7765G>A (p.Glu2589Lys)
c.231-13290G>A
c.7795G>A (p.Glu2599Lys)
c.7690G>A (p.Glu2564Lys)
c.7681G>A (p.Glu2561Lys)
c.7642G>A (p.Glu2548Lys)
c.7588G>A (p.Glu2530Lys)
c.7492G>A (p.Glu2498Lys)
c.7462G>A (p.Glu2488Lys)
c.7387G>A (p.Glu2463Lys)
c.7285G>A (p.Glu2429Lys)
c.6916G>A (p.Glu2306Lys)
 gnomAD v4
5g.112843359G>CCA16038198APCc.7819G>C (p.Glu2607Gln)
c.*7771G>C (n.*7771G>C)
c.7711G>C (p.Glu2571Gln)
c.7765G>C (p.Glu2589Gln)
c.231-13290G>C
c.7795G>C (p.Glu2599Gln)
c.7690G>C (p.Glu2564Gln)
c.7681G>C (p.Glu2561Gln)
c.7642G>C (p.Glu2548Gln)
c.7588G>C (p.Glu2530Gln)
c.7492G>C (p.Glu2498Gln)
c.7462G>C (p.Glu2488Gln)
c.7387G>C (p.Glu2463Gln)
c.7285G>C (p.Glu2429Gln)
c.6916G>C (p.Glu2306Gln)
5g.112843359G=CA1573473492APCc.7819G= (p.Glu2607=)
c.*7771G= (n.*7771G=)
c.7711G= (p.Glu2571=)
c.7765G= (p.Glu2589=)
c.231-13290G=
c.7795G= (p.Glu2599=)
c.7690G= (p.Glu2564=)
c.7681G= (p.Glu2561=)
c.7642G= (p.Glu2548=)
c.7588G= (p.Glu2530=)
c.7492G= (p.Glu2498=)
c.7462G= (p.Glu2488=)
c.7387G= (p.Glu2463=)
c.7285G= (p.Glu2429=)
c.6916G= (p.Glu2306=)
5g.112843359G>TCA16038199APCc.7819G>T (p.Glu2607Ter)
c.*7771G>T (n.*7771G>T)
c.7711G>T (p.Glu2571Ter)
c.7765G>T (p.Glu2589Ter)
c.231-13290G>T
c.7795G>T (p.Glu2599Ter)
c.7690G>T (p.Glu2564Ter)
c.7681G>T (p.Glu2561Ter)
c.7642G>T (p.Glu2548Ter)
c.7588G>T (p.Glu2530Ter)
c.7492G>T (p.Glu2498Ter)
c.7462G>T (p.Glu2488Ter)
c.7387G>T (p.Glu2463Ter)
c.7285G>T (p.Glu2429Ter)
c.6916G>T (p.Glu2306Ter)
 ClinVar
5g.112843360A=CA1573473500APCc.7820A= (p.Glu2607=)
c.*7772A= (n.*7772A=)
c.7712A= (p.Glu2571=)
c.7766A= (p.Glu2589=)
c.231-13289A=
c.7796A= (p.Glu2599=)
c.7691A= (p.Glu2564=)
c.7682A= (p.Glu2561=)
c.7643A= (p.Glu2548=)
c.7589A= (p.Glu2530=)
c.7493A= (p.Glu2498=)
c.7463A= (p.Glu2488=)
c.7388A= (p.Glu2463=)
c.7286A= (p.Glu2429=)
c.6917A= (p.Glu2306=)
5g.112843360A>CCA16038200APCc.7820A>C (p.Glu2607Ala)
c.*7772A>C (n.*7772A>C)
c.7712A>C (p.Glu2571Ala)
c.7766A>C (p.Glu2589Ala)
c.231-13289A>C
c.7796A>C (p.Glu2599Ala)
c.7691A>C (p.Glu2564Ala)
c.7682A>C (p.Glu2561Ala)
c.7643A>C (p.Glu2548Ala)
c.7589A>C (p.Glu2530Ala)
c.7493A>C (p.Glu2498Ala)
c.7463A>C (p.Glu2488Ala)
c.7388A>C (p.Glu2463Ala)
c.7286A>C (p.Glu2429Ala)
c.6917A>C (p.Glu2306Ala)
 ClinVar dbSNP
5g.112843360A>GCA014023APCc.7820A>G (p.Glu2607Gly)
c.*7772A>G (n.*7772A>G)
c.7712A>G (p.Glu2571Gly)
c.7766A>G (p.Glu2589Gly)
c.231-13289A>G
c.7796A>G (p.Glu2599Gly)
c.7691A>G (p.Glu2564Gly)
c.7682A>G (p.Glu2561Gly)
c.7643A>G (p.Glu2548Gly)
c.7589A>G (p.Glu2530Gly)
c.7493A>G (p.Glu2498Gly)
c.7463A>G (p.Glu2488Gly)
c.7388A>G (p.Glu2463Gly)
c.7286A>G (p.Glu2429Gly)
c.6917A>G (p.Glu2306Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843360A>TCA16038201APCc.7820A>T (p.Glu2607Val)
c.*7772A>T (n.*7772A>T)
c.7712A>T (p.Glu2571Val)
c.7766A>T (p.Glu2589Val)
c.231-13289A>T
c.7796A>T (p.Glu2599Val)
c.7691A>T (p.Glu2564Val)
c.7682A>T (p.Glu2561Val)
c.7643A>T (p.Glu2548Val)
c.7589A>T (p.Glu2530Val)
c.7493A>T (p.Glu2498Val)
c.7463A>T (p.Glu2488Val)
c.7388A>T (p.Glu2463Val)
c.7286A>T (p.Glu2429Val)
c.6917A>T (p.Glu2306Val)
 dbSNP
5g.112843364dupCA1573473506APCc.7824dup (p.His2609ThrfsTer12)
c.*7776dup (n.*7776dup)
c.7716dup (p.His2573ThrfsTer12)
c.7770dup (p.His2591ThrfsTer12)
c.231-13285dup
c.7800dup (p.His2601ThrfsTer12)
c.7695dup (p.His2566ThrfsTer12)
c.7686dup (p.His2563ThrfsTer12)
c.7647dup (p.His2550ThrfsTer12)
c.7593dup (p.His2532ThrfsTer12)
c.7497dup (p.His2500ThrfsTer12)
c.7467dup (p.His2490ThrfsTer12)
c.7392dup (p.His2465ThrfsTer12)
c.7290dup (p.His2431ThrfsTer12)
c.6921dup (p.His2308ThrfsTer12)
 dbSNP
5g.112843364delCA2602933807APCc.7824del (p.Lys2608AsnfsTer3)
c.*7776del (n.*7776del)
c.7716del (p.Lys2572AsnfsTer3)
c.7770del (p.Lys2590AsnfsTer3)
c.231-13285del
c.7800del (p.Lys2600AsnfsTer3)
c.7695del (p.Lys2565AsnfsTer3)
c.7686del (p.Lys2562AsnfsTer3)
c.7647del (p.Lys2549AsnfsTer3)
c.7593del (p.Lys2531AsnfsTer3)
c.7497del (p.Lys2499AsnfsTer3)
c.7467del (p.Lys2489AsnfsTer3)
c.7392del (p.Lys2464AsnfsTer3)
c.7290del (p.Lys2430AsnfsTer3)
c.6921del (p.Lys2307AsnfsTer3)
 gnomAD v3 gnomAD v4
5g.112843361A=CA1573473525APCc.7821A= (p.Glu2607=)
c.*7773A= (n.*7773A=)
c.7713A= (p.Glu2571=)
c.7767A= (p.Glu2589=)
c.231-13288A=
c.7797A= (p.Glu2599=)
c.7692A= (p.Glu2564=)
c.7683A= (p.Glu2561=)
c.7644A= (p.Glu2548=)
c.7590A= (p.Glu2530=)
c.7494A= (p.Glu2498=)
c.7464A= (p.Glu2488=)
c.7389A= (p.Glu2463=)
c.7287A= (p.Glu2429=)
c.6918A= (p.Glu2306=)
5g.112843361A>CCA16038202APCc.7821A>C (p.Glu2607Asp)
c.*7773A>C (n.*7773A>C)
c.7713A>C (p.Glu2571Asp)
c.7767A>C (p.Glu2589Asp)
c.231-13288A>C
c.7797A>C (p.Glu2599Asp)
c.7692A>C (p.Glu2564Asp)
c.7683A>C (p.Glu2561Asp)
c.7644A>C (p.Glu2548Asp)
c.7590A>C (p.Glu2530Asp)
c.7494A>C (p.Glu2498Asp)
c.7464A>C (p.Glu2488Asp)
c.7389A>C (p.Glu2463Asp)
c.7287A>C (p.Glu2429Asp)
c.6918A>C (p.Glu2306Asp)
5g.112843361A>GCA446211208APCc.7821A>G (p.Glu2607=)
c.*7773A>G (n.*7773A>G)
c.7713A>G (p.Glu2571=)
c.7767A>G (p.Glu2589=)
c.231-13288A>G
c.7797A>G (p.Glu2599=)
c.7692A>G (p.Glu2564=)
c.7683A>G (p.Glu2561=)
c.7644A>G (p.Glu2548=)
c.7590A>G (p.Glu2530=)
c.7494A>G (p.Glu2498=)
c.7464A>G (p.Glu2488=)
c.7389A>G (p.Glu2463=)
c.7287A>G (p.Glu2429=)
c.6918A>G (p.Glu2306=)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
5g.112843361A>TCA16038203APCc.7821A>T (p.Glu2607Asp)
c.*7773A>T (n.*7773A>T)
c.7713A>T (p.Glu2571Asp)
c.7767A>T (p.Glu2589Asp)
c.231-13288A>T
c.7797A>T (p.Glu2599Asp)
c.7692A>T (p.Glu2564Asp)
c.7683A>T (p.Glu2561Asp)
c.7644A>T (p.Glu2548Asp)
c.7590A>T (p.Glu2530Asp)
c.7494A>T (p.Glu2498Asp)
c.7464A>T (p.Glu2488Asp)
c.7389A>T (p.Glu2463Asp)
c.7287A>T (p.Glu2429Asp)
c.6918A>T (p.Glu2306Asp)
 dbSNP
5g.112843362A>CCA16038204APCc.7822A>C (p.Lys2608Gln)
c.*7774A>C (n.*7774A>C)
c.7714A>C (p.Lys2572Gln)
c.7768A>C (p.Lys2590Gln)
c.231-13287A>C
c.7798A>C (p.Lys2600Gln)
c.7693A>C (p.Lys2565Gln)
c.7684A>C (p.Lys2562Gln)
c.7645A>C (p.Lys2549Gln)
c.7591A>C (p.Lys2531Gln)
c.7495A>C (p.Lys2499Gln)
c.7465A>C (p.Lys2489Gln)
c.7390A>C (p.Lys2464Gln)
c.7288A>C (p.Lys2430Gln)
c.6919A>C (p.Lys2307Gln)
5g.112843362A>GCA16038205APCc.7822A>G (p.Lys2608Glu)
c.*7774A>G (n.*7774A>G)
c.7714A>G (p.Lys2572Glu)
c.7768A>G (p.Lys2590Glu)
c.231-13287A>G
c.7798A>G (p.Lys2600Glu)
c.7693A>G (p.Lys2565Glu)
c.7684A>G (p.Lys2562Glu)
c.7645A>G (p.Lys2549Glu)
c.7591A>G (p.Lys2531Glu)
c.7495A>G (p.Lys2499Glu)
c.7465A>G (p.Lys2489Glu)
c.7390A>G (p.Lys2464Glu)
c.7288A>G (p.Lys2430Glu)
c.6919A>G (p.Lys2307Glu)
5g.112843362A>TCA16038206APCc.7822A>T (p.Lys2608Ter)
c.*7774A>T (n.*7774A>T)
c.7714A>T (p.Lys2572Ter)
c.7768A>T (p.Lys2590Ter)
c.231-13287A>T
c.7798A>T (p.Lys2600Ter)
c.7693A>T (p.Lys2565Ter)
c.7684A>T (p.Lys2562Ter)
c.7645A>T (p.Lys2549Ter)
c.7591A>T (p.Lys2531Ter)
c.7495A>T (p.Lys2499Ter)
c.7465A>T (p.Lys2489Ter)
c.7390A>T (p.Lys2464Ter)
c.7288A>T (p.Lys2430Ter)
c.6919A>T (p.Lys2307Ter)
 dbSNP
5g.112843363A>CCA16038207APCc.7823A>C (p.Lys2608Thr)
c.*7775A>C (n.*7775A>C)
c.7715A>C (p.Lys2572Thr)
c.7769A>C (p.Lys2590Thr)
c.231-13286A>C
c.7799A>C (p.Lys2600Thr)
c.7694A>C (p.Lys2565Thr)
c.7685A>C (p.Lys2562Thr)
c.7646A>C (p.Lys2549Thr)
c.7592A>C (p.Lys2531Thr)
c.7496A>C (p.Lys2499Thr)
c.7466A>C (p.Lys2489Thr)
c.7391A>C (p.Lys2464Thr)
c.7289A>C (p.Lys2430Thr)
c.6920A>C (p.Lys2307Thr)
 ClinVar gnomAD v4
5g.112843363A>GCA16038208APCc.7823A>G (p.Lys2608Arg)
c.*7775A>G (n.*7775A>G)
c.7715A>G (p.Lys2572Arg)
c.7769A>G (p.Lys2590Arg)
c.231-13286A>G
c.7799A>G (p.Lys2600Arg)
c.7694A>G (p.Lys2565Arg)
c.7685A>G (p.Lys2562Arg)
c.7646A>G (p.Lys2549Arg)
c.7592A>G (p.Lys2531Arg)
c.7496A>G (p.Lys2499Arg)
c.7466A>G (p.Lys2489Arg)
c.7391A>G (p.Lys2464Arg)
c.7289A>G (p.Lys2430Arg)
c.6920A>G (p.Lys2307Arg)
 dbSNP
5g.112843363A>TCA16038209APCc.7823A>T (p.Lys2608Ile)
c.*7775A>T (n.*7775A>T)
c.7715A>T (p.Lys2572Ile)
c.7769A>T (p.Lys2590Ile)
c.231-13286A>T
c.7799A>T (p.Lys2600Ile)
c.7694A>T (p.Lys2565Ile)
c.7685A>T (p.Lys2562Ile)
c.7646A>T (p.Lys2549Ile)
c.7592A>T (p.Lys2531Ile)
c.7496A>T (p.Lys2499Ile)
c.7466A>T (p.Lys2489Ile)
c.7391A>T (p.Lys2464Ile)
c.7289A>T (p.Lys2430Ile)
c.6920A>T (p.Lys2307Ile)
 dbSNP
5g.112843364A=CA1573473543APCc.7824A= (p.Lys2608=)
c.*7776A= (n.*7776A=)
c.7716A= (p.Lys2572=)
c.7770A= (p.Lys2590=)
c.231-13285A=
c.7800A= (p.Lys2600=)
c.7695A= (p.Lys2565=)
c.7686A= (p.Lys2562=)
c.7647A= (p.Lys2549=)
c.7593A= (p.Lys2531=)
c.7497A= (p.Lys2499=)
c.7467A= (p.Lys2489=)
c.7392A= (p.Lys2464=)
c.7290A= (p.Lys2430=)
c.6921A= (p.Lys2307=)
5g.112843364A>CCA16038210APCc.7824A>C (p.Lys2608Asn)
c.*7776A>C (n.*7776A>C)
c.7716A>C (p.Lys2572Asn)
c.7770A>C (p.Lys2590Asn)
c.231-13285A>C
c.7800A>C (p.Lys2600Asn)
c.7695A>C (p.Lys2565Asn)
c.7686A>C (p.Lys2562Asn)
c.7647A>C (p.Lys2549Asn)
c.7593A>C (p.Lys2531Asn)
c.7497A>C (p.Lys2499Asn)
c.7467A>C (p.Lys2489Asn)
c.7392A>C (p.Lys2464Asn)
c.7290A>C (p.Lys2430Asn)
c.6921A>C (p.Lys2307Asn)
 ClinVar dbSNP
5g.112843364A>GCA446211212APCc.7824A>G (p.Lys2608=)
c.*7776A>G (n.*7776A>G)
c.7716A>G (p.Lys2572=)
c.7770A>G (p.Lys2590=)
c.231-13285A>G
c.7800A>G (p.Lys2600=)
c.7695A>G (p.Lys2565=)
c.7686A>G (p.Lys2562=)
c.7647A>G (p.Lys2549=)
c.7593A>G (p.Lys2531=)
c.7497A>G (p.Lys2499=)
c.7467A>G (p.Lys2489=)
c.7392A>G (p.Lys2464=)
c.7290A>G (p.Lys2430=)
c.6921A>G (p.Lys2307=)
 dbSNP
5g.112843364A>TCA16038211APCc.7824A>T (p.Lys2608Asn)
c.*7776A>T (n.*7776A>T)
c.7716A>T (p.Lys2572Asn)
c.7770A>T (p.Lys2590Asn)
c.231-13285A>T
c.7800A>T (p.Lys2600Asn)
c.7695A>T (p.Lys2565Asn)
c.7686A>T (p.Lys2562Asn)
c.7647A>T (p.Lys2549Asn)
c.7593A>T (p.Lys2531Asn)
c.7497A>T (p.Lys2499Asn)
c.7467A>T (p.Lys2489Asn)
c.7392A>T (p.Lys2464Asn)
c.7290A>T (p.Lys2430Asn)
c.6921A>T (p.Lys2307Asn)
 dbSNP
5g.112843365C>ACA16038212APCc.7825C>A (p.His2609Asn)
c.*7777C>A (n.*7777C>A)
c.7717C>A (p.His2573Asn)
c.7771C>A (p.His2591Asn)
c.231-13284C>A
c.7801C>A (p.His2601Asn)
c.7696C>A (p.His2566Asn)
c.7687C>A (p.His2563Asn)
c.7648C>A (p.His2550Asn)
c.7594C>A (p.His2532Asn)
c.7498C>A (p.His2500Asn)
c.7468C>A (p.His2490Asn)
c.7393C>A (p.His2465Asn)
c.7291C>A (p.His2431Asn)
c.6922C>A (p.His2308Asn)
 ClinVar dbSNP
5g.112843365C=CA1573473549APCc.7825C= (p.His2609=)
c.*7777C= (n.*7777C=)
c.7717C= (p.His2573=)
c.7771C= (p.His2591=)
c.231-13284C=
c.7801C= (p.His2601=)
c.7696C= (p.His2566=)
c.7687C= (p.His2563=)
c.7648C= (p.His2550=)
c.7594C= (p.His2532=)
c.7498C= (p.His2500=)
c.7468C= (p.His2490=)
c.7393C= (p.His2465=)
c.7291C= (p.His2431=)
c.6922C= (p.His2308=)
5g.112843365C>GCA16038213APCc.7825C>G (p.His2609Asp)
c.*7777C>G (n.*7777C>G)
c.7717C>G (p.His2573Asp)
c.7771C>G (p.His2591Asp)
c.231-13284C>G
c.7801C>G (p.His2601Asp)
c.7696C>G (p.His2566Asp)
c.7687C>G (p.His2563Asp)
c.7648C>G (p.His2550Asp)
c.7594C>G (p.His2532Asp)
c.7498C>G (p.His2500Asp)
c.7468C>G (p.His2490Asp)
c.7393C>G (p.His2465Asp)
c.7291C>G (p.His2431Asp)
c.6922C>G (p.His2308Asp)
 ClinVar dbSNP
5g.112843365C>TCA16038214APCc.7825C>T (p.His2609Tyr)
c.*7777C>T (n.*7777C>T)
c.7717C>T (p.His2573Tyr)
c.7771C>T (p.His2591Tyr)
c.231-13284C>T
c.7801C>T (p.His2601Tyr)
c.7696C>T (p.His2566Tyr)
c.7687C>T (p.His2563Tyr)
c.7648C>T (p.His2550Tyr)
c.7594C>T (p.His2532Tyr)
c.7498C>T (p.His2500Tyr)
c.7468C>T (p.His2490Tyr)
c.7393C>T (p.His2465Tyr)
c.7291C>T (p.His2431Tyr)
c.6922C>T (p.His2308Tyr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112843366A=CA1573473570APCc.7826A= (p.His2609=)
c.*7778A= (n.*7778A=)
c.7718A= (p.His2573=)
c.7772A= (p.His2591=)
c.231-13283A=
c.7802A= (p.His2601=)
c.7697A= (p.His2566=)
c.7688A= (p.His2563=)
c.7649A= (p.His2550=)
c.7595A= (p.His2532=)
c.7499A= (p.His2500=)
c.7469A= (p.His2490=)
c.7394A= (p.His2465=)
c.7292A= (p.His2431=)
c.6923A= (p.His2308=)
5g.112843366A>CCA049129APCc.7826A>C (p.His2609Pro)
c.*7778A>C (n.*7778A>C)
c.7718A>C (p.His2573Pro)
c.7772A>C (p.His2591Pro)
c.231-13283A>C
c.7802A>C (p.His2601Pro)
c.7697A>C (p.His2566Pro)
c.7688A>C (p.His2563Pro)
c.7649A>C (p.His2550Pro)
c.7595A>C (p.His2532Pro)
c.7499A>C (p.His2500Pro)
c.7469A>C (p.His2490Pro)
c.7394A>C (p.His2465Pro)
c.7292A>C (p.His2431Pro)
c.6923A>C (p.His2308Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112843366A>GCA16038215APCc.7826A>G (p.His2609Arg)
c.*7778A>G (n.*7778A>G)
c.7718A>G (p.His2573Arg)
c.7772A>G (p.His2591Arg)
c.231-13283A>G
c.7802A>G (p.His2601Arg)
c.7697A>G (p.His2566Arg)
c.7688A>G (p.His2563Arg)
c.7649A>G (p.His2550Arg)
c.7595A>G (p.His2532Arg)
c.7499A>G (p.His2500Arg)
c.7469A>G (p.His2490Arg)
c.7394A>G (p.His2465Arg)
c.7292A>G (p.His2431Arg)
c.6923A>G (p.His2308Arg)
 ClinVar dbSNP gnomAD v4
5g.112843366A>TCA16038216APCc.7826A>T (p.His2609Leu)
c.*7778A>T (n.*7778A>T)
c.7718A>T (p.His2573Leu)
c.7772A>T (p.His2591Leu)
c.231-13283A>T
c.7802A>T (p.His2601Leu)
c.7697A>T (p.His2566Leu)
c.7688A>T (p.His2563Leu)
c.7649A>T (p.His2550Leu)
c.7595A>T (p.His2532Leu)
c.7499A>T (p.His2500Leu)
c.7469A>T (p.His2490Leu)
c.7394A>T (p.His2465Leu)
c.7292A>T (p.His2431Leu)
c.6923A>T (p.His2308Leu)
 ClinVar dbSNP
5g.112843366_112843367delCA2499217501APCc.7826_7827del (p.His2609ArgfsTer11)
c.*7778_*7779del (n.*7778_*7779del)
c.7718_7719del (p.His2573ArgfsTer11)
c.7772_7773del (p.His2591ArgfsTer11)
c.231-13283_231-13282del
c.7802_7803del (p.His2601ArgfsTer11)
c.7697_7698del (p.His2566ArgfsTer11)
c.7688_7689del (p.His2563ArgfsTer11)
c.7649_7650del (p.His2550ArgfsTer11)
c.7595_7596del (p.His2532ArgfsTer11)
c.7499_7500del (p.His2500ArgfsTer11)
c.7469_7470del (p.His2490ArgfsTer11)
c.7394_7395del (p.His2465ArgfsTer11)
c.7292_7293del (p.His2431ArgfsTer11)
c.6923_6924del (p.His2308ArgfsTer11)
 ClinVar dbSNP gnomAD v4
5g.112843367T>ACA16038217APCc.7827T>A (p.His2609Gln)
c.*7779T>A (n.*7779T>A)
c.7719T>A (p.His2573Gln)
c.7773T>A (p.His2591Gln)
c.231-13282T>A
c.7803T>A (p.His2601Gln)
c.7698T>A (p.His2566Gln)
c.7689T>A (p.His2563Gln)
c.7650T>A (p.His2550Gln)
c.7596T>A (p.His2532Gln)
c.7500T>A (p.His2500Gln)
c.7470T>A (p.His2490Gln)
c.7395T>A (p.His2465Gln)
c.7293T>A (p.His2431Gln)
c.6924T>A (p.His2308Gln)
 dbSNP
5g.112843367T>CCA049143APCc.7827T>C (p.His2609=)
c.*7779T>C (n.*7779T>C)
c.7719T>C (p.His2573=)
c.7773T>C (p.His2591=)
c.231-13282T>C
c.7803T>C (p.His2601=)
c.7698T>C (p.His2566=)
c.7689T>C (p.His2563=)
c.7650T>C (p.His2550=)
c.7596T>C (p.His2532=)
c.7500T>C (p.His2500=)
c.7470T>C (p.His2490=)
c.7395T>C (p.His2465=)
c.7293T>C (p.His2431=)
c.6924T>C (p.His2308=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112843367T>GCA16038218APCc.7827T>G (p.His2609Gln)
c.*7779T>G (n.*7779T>G)
c.7719T>G (p.His2573Gln)
c.7773T>G (p.His2591Gln)
c.231-13282T>G
c.7803T>G (p.His2601Gln)
c.7698T>G (p.His2566Gln)
c.7689T>G (p.His2563Gln)
c.7650T>G (p.His2550Gln)
c.7596T>G (p.His2532Gln)
c.7500T>G (p.His2500Gln)
c.7470T>G (p.His2490Gln)
c.7395T>G (p.His2465Gln)
c.7293T>G (p.His2431Gln)
c.6924T>G (p.His2308Gln)
5g.112843367T=CA1573473577APCc.7827T= (p.His2609=)
c.*7779T= (n.*7779T=)
c.7719T= (p.His2573=)
c.7773T= (p.His2591=)
c.231-13282T=
c.7803T= (p.His2601=)
c.7698T= (p.His2566=)
c.7689T= (p.His2563=)
c.7650T= (p.His2550=)
c.7596T= (p.His2532=)
c.7500T= (p.His2500=)
c.7470T= (p.His2490=)
c.7395T= (p.His2465=)
c.7293T= (p.His2431=)
c.6924T= (p.His2308=)
5g.112843368G>ACA16038219APCc.7828G>A (p.Val2610Met)
c.*7780G>A (n.*7780G>A)
c.7720G>A (p.Val2574Met)
c.7774G>A (p.Val2592Met)
c.231-13281G>A
c.7804G>A (p.Val2602Met)
c.7699G>A (p.Val2567Met)
c.7690G>A (p.Val2564Met)
c.7651G>A (p.Val2551Met)
c.7597G>A (p.Val2533Met)
c.7501G>A (p.Val2501Met)
c.7471G>A (p.Val2491Met)
c.7396G>A (p.Val2466Met)
c.7294G>A (p.Val2432Met)
c.6925G>A (p.Val2309Met)
 dbSNP
5g.112843368G>CCA16038220APCc.7828G>C (p.Val2610Leu)
c.*7780G>C (n.*7780G>C)
c.7720G>C (p.Val2574Leu)
c.7774G>C (p.Val2592Leu)
c.231-13281G>C
c.7804G>C (p.Val2602Leu)
c.7699G>C (p.Val2567Leu)
c.7690G>C (p.Val2564Leu)
c.7651G>C (p.Val2551Leu)
c.7597G>C (p.Val2533Leu)
c.7501G>C (p.Val2501Leu)
c.7471G>C (p.Val2491Leu)
c.7396G>C (p.Val2466Leu)
c.7294G>C (p.Val2432Leu)
c.6925G>C (p.Val2309Leu)
 ClinVar dbSNP
5g.112843368G>TCA16038221APCc.7828G>T (p.Val2610Leu)
c.*7780G>T (n.*7780G>T)
c.7720G>T (p.Val2574Leu)
c.7774G>T (p.Val2592Leu)
c.231-13281G>T
c.7804G>T (p.Val2602Leu)
c.7699G>T (p.Val2567Leu)
c.7690G>T (p.Val2564Leu)
c.7651G>T (p.Val2551Leu)
c.7597G>T (p.Val2533Leu)
c.7501G>T (p.Val2501Leu)
c.7471G>T (p.Val2491Leu)
c.7396G>T (p.Val2466Leu)
c.7294G>T (p.Val2432Leu)
c.6925G>T (p.Val2309Leu)
5g.112843369T>ACA16038222APCc.7829T>A (p.Val2610Glu)
c.*7781T>A (n.*7781T>A)
c.7721T>A (p.Val2574Glu)
c.7775T>A (p.Val2592Glu)
c.231-13280T>A
c.7805T>A (p.Val2602Glu)
c.7700T>A (p.Val2567Glu)
c.7691T>A (p.Val2564Glu)
c.7652T>A (p.Val2551Glu)
c.7598T>A (p.Val2533Glu)
c.7502T>A (p.Val2501Glu)
c.7472T>A (p.Val2491Glu)
c.7397T>A (p.Val2466Glu)
c.7295T>A (p.Val2432Glu)
c.6926T>A (p.Val2309Glu)
 dbSNP
5g.112843369T>CCA16038223APCc.7829T>C (p.Val2610Ala)
c.*7781T>C (n.*7781T>C)
c.7721T>C (p.Val2574Ala)
c.7775T>C (p.Val2592Ala)
c.231-13280T>C
c.7805T>C (p.Val2602Ala)
c.7700T>C (p.Val2567Ala)
c.7691T>C (p.Val2564Ala)
c.7652T>C (p.Val2551Ala)
c.7598T>C (p.Val2533Ala)
c.7502T>C (p.Val2501Ala)
c.7472T>C (p.Val2491Ala)
c.7397T>C (p.Val2466Ala)
c.7295T>C (p.Val2432Ala)
c.6926T>C (p.Val2309Ala)
 dbSNP
5g.112843369T>GCA16038224APCc.7829T>G (p.Val2610Gly)
c.*7781T>G (n.*7781T>G)
c.7721T>G (p.Val2574Gly)
c.7775T>G (p.Val2592Gly)
c.231-13280T>G
c.7805T>G (p.Val2602Gly)
c.7700T>G (p.Val2567Gly)
c.7691T>G (p.Val2564Gly)
c.7652T>G (p.Val2551Gly)
c.7598T>G (p.Val2533Gly)
c.7502T>G (p.Val2501Gly)
c.7472T>G (p.Val2491Gly)
c.7397T>G (p.Val2466Gly)
c.7295T>G (p.Val2432Gly)
c.6926T>G (p.Val2309Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112843369T=CA1573473581APCc.7829T= (p.Val2610=)
c.*7781T= (n.*7781T=)
c.7721T= (p.Val2574=)
c.7775T= (p.Val2592=)
c.231-13280T=
c.7805T= (p.Val2602=)
c.7700T= (p.Val2567=)
c.7691T= (p.Val2564=)
c.7652T= (p.Val2551=)
c.7598T= (p.Val2533=)
c.7502T= (p.Val2501=)
c.7472T= (p.Val2491=)
c.7397T= (p.Val2466=)
c.7295T= (p.Val2432=)
c.6926T= (p.Val2309=)
5g.112843370G>ACA446211216APCc.7830G>A (p.Val2610=)
c.*7782G>A (n.*7782G>A)
c.7722G>A (p.Val2574=)
c.7776G>A (p.Val2592=)
c.231-13279G>A
c.7806G>A (p.Val2602=)
c.7701G>A (p.Val2567=)
c.7692G>A (p.Val2564=)
c.7653G>A (p.Val2551=)
c.7599G>A (p.Val2533=)
c.7503G>A (p.Val2501=)
c.7473G>A (p.Val2491=)
c.7398G>A (p.Val2466=)
c.7296G>A (p.Val2432=)
c.6927G>A (p.Val2309=)
 dbSNP
5g.112843370G>CCA446211217APCc.7830G>C (p.Val2610=)
c.*7782G>C (n.*7782G>C)
c.7722G>C (p.Val2574=)
c.7776G>C (p.Val2592=)
c.231-13279G>C
c.7806G>C (p.Val2602=)
c.7701G>C (p.Val2567=)
c.7692G>C (p.Val2564=)
c.7653G>C (p.Val2551=)
c.7599G>C (p.Val2533=)
c.7503G>C (p.Val2501=)
c.7473G>C (p.Val2491=)
c.7398G>C (p.Val2466=)
c.7296G>C (p.Val2432=)
c.6927G>C (p.Val2309=)
 ClinVar dbSNP
5g.112843370G>TCA446211218APCc.7830G>T (p.Val2610=)
c.*7782G>T (n.*7782G>T)
c.7722G>T (p.Val2574=)
c.7776G>T (p.Val2592=)
c.231-13279G>T
c.7806G>T (p.Val2602=)
c.7701G>T (p.Val2567=)
c.7692G>T (p.Val2564=)
c.7653G>T (p.Val2551=)
c.7599G>T (p.Val2533=)
c.7503G>T (p.Val2501=)
c.7473G>T (p.Val2491=)
c.7398G>T (p.Val2466=)
c.7296G>T (p.Val2432=)
c.6927G>T (p.Val2309=)
 dbSNP gnomAD v4
5g.112843371A>CCA16038225APCc.7831A>C (p.Asn2611His)
c.*7783A>C (n.*7783A>C)
c.7723A>C (p.Asn2575His)
c.7777A>C (p.Asn2593His)
c.231-13278A>C
c.7807A>C (p.Asn2603His)
c.7702A>C (p.Asn2568His)
c.7693A>C (p.Asn2565His)
c.7654A>C (p.Asn2552His)
c.7600A>C (p.Asn2534His)
c.7504A>C (p.Asn2502His)
c.7474A>C (p.Asn2492His)
c.7399A>C (p.Asn2467His)
c.7297A>C (p.Asn2433His)
c.6928A>C (p.Asn2310His)
 ClinVar
5g.112843371A>GCA16038226APCc.7831A>G (p.Asn2611Asp)
c.*7783A>G (n.*7783A>G)
c.7723A>G (p.Asn2575Asp)
c.7777A>G (p.Asn2593Asp)
c.231-13278A>G
c.7807A>G (p.Asn2603Asp)
c.7702A>G (p.Asn2568Asp)
c.7693A>G (p.Asn2565Asp)
c.7654A>G (p.Asn2552Asp)
c.7600A>G (p.Asn2534Asp)
c.7504A>G (p.Asn2502Asp)
c.7474A>G (p.Asn2492Asp)
c.7399A>G (p.Asn2467Asp)
c.7297A>G (p.Asn2433Asp)
c.6928A>G (p.Asn2310Asp)
5g.112843371A>TCA16038227APCc.7831A>T (p.Asn2611Tyr)
c.*7783A>T (n.*7783A>T)
c.7723A>T (p.Asn2575Tyr)
c.7777A>T (p.Asn2593Tyr)
c.231-13278A>T
c.7807A>T (p.Asn2603Tyr)
c.7702A>T (p.Asn2568Tyr)
c.7693A>T (p.Asn2565Tyr)
c.7654A>T (p.Asn2552Tyr)
c.7600A>T (p.Asn2534Tyr)
c.7504A>T (p.Asn2502Tyr)
c.7474A>T (p.Asn2492Tyr)
c.7399A>T (p.Asn2467Tyr)
c.7297A>T (p.Asn2433Tyr)
c.6928A>T (p.Asn2310Tyr)
 dbSNP
5g.112843372A=CA1573473590APCc.7832A= (p.Asn2611=)
c.*7784A= (n.*7784A=)
c.7724A= (p.Asn2575=)
c.7778A= (p.Asn2593=)
c.231-13277A=
c.7808A= (p.Asn2603=)
c.7703A= (p.Asn2568=)
c.7694A= (p.Asn2565=)
c.7655A= (p.Asn2552=)
c.7601A= (p.Asn2534=)
c.7505A= (p.Asn2502=)
c.7475A= (p.Asn2492=)
c.7400A= (p.Asn2467=)
c.7298A= (p.Asn2433=)
c.6929A= (p.Asn2310=)
5g.112843372A>CCA16038228APCc.7832A>C (p.Asn2611Thr)
c.*7784A>C (n.*7784A>C)
c.7724A>C (p.Asn2575Thr)
c.7778A>C (p.Asn2593Thr)
c.231-13277A>C
c.7808A>C (p.Asn2603Thr)
c.7703A>C (p.Asn2568Thr)
c.7694A>C (p.Asn2565Thr)
c.7655A>C (p.Asn2552Thr)
c.7601A>C (p.Asn2534Thr)
c.7505A>C (p.Asn2502Thr)
c.7475A>C (p.Asn2492Thr)
c.7400A>C (p.Asn2467Thr)
c.7298A>C (p.Asn2433Thr)
c.6929A>C (p.Asn2310Thr)
 dbSNP
5g.112843372A>GCA014033APCc.7832A>G (p.Asn2611Ser)
c.*7784A>G (n.*7784A>G)
c.7724A>G (p.Asn2575Ser)
c.7778A>G (p.Asn2593Ser)
c.231-13277A>G
c.7808A>G (p.Asn2603Ser)
c.7703A>G (p.Asn2568Ser)
c.7694A>G (p.Asn2565Ser)
c.7655A>G (p.Asn2552Ser)
c.7601A>G (p.Asn2534Ser)
c.7505A>G (p.Asn2502Ser)
c.7475A>G (p.Asn2492Ser)
c.7400A>G (p.Asn2467Ser)
c.7298A>G (p.Asn2433Ser)
c.6929A>G (p.Asn2310Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843372A>TCA16038229APCc.7832A>T (p.Asn2611Ile)
c.*7784A>T (n.*7784A>T)
c.7724A>T (p.Asn2575Ile)
c.7778A>T (p.Asn2593Ile)
c.231-13277A>T
c.7808A>T (p.Asn2603Ile)
c.7703A>T (p.Asn2568Ile)
c.7694A>T (p.Asn2565Ile)
c.7655A>T (p.Asn2552Ile)
c.7601A>T (p.Asn2534Ile)
c.7505A>T (p.Asn2502Ile)
c.7475A>T (p.Asn2492Ile)
c.7400A>T (p.Asn2467Ile)
c.7298A>T (p.Asn2433Ile)
c.6929A>T (p.Asn2310Ile)
 ClinVar dbSNP
5g.112843373C>ACA16038230APCc.7833C>A (p.Asn2611Lys)
c.*7785C>A (n.*7785C>A)
c.7725C>A (p.Asn2575Lys)
c.7779C>A (p.Asn2593Lys)
c.231-13276C>A
c.7809C>A (p.Asn2603Lys)
c.7704C>A (p.Asn2568Lys)
c.7695C>A (p.Asn2565Lys)
c.7656C>A (p.Asn2552Lys)
c.7602C>A (p.Asn2534Lys)
c.7506C>A (p.Asn2502Lys)
c.7476C>A (p.Asn2492Lys)
c.7401C>A (p.Asn2467Lys)
c.7299C>A (p.Asn2433Lys)
c.6930C>A (p.Asn2310Lys)
5g.112843373C=CA1573473605APCc.7833C= (p.Asn2611=)
c.*7785C= (n.*7785C=)
c.7725C= (p.Asn2575=)
c.7779C= (p.Asn2593=)
c.231-13276C=
c.7809C= (p.Asn2603=)
c.7704C= (p.Asn2568=)
c.7695C= (p.Asn2565=)
c.7656C= (p.Asn2552=)
c.7602C= (p.Asn2534=)
c.7506C= (p.Asn2502=)
c.7476C= (p.Asn2492=)
c.7401C= (p.Asn2467=)
c.7299C= (p.Asn2433=)
c.6930C= (p.Asn2310=)
5g.112843373C>GCA16038231APCc.7833C>G (p.Asn2611Lys)
c.*7785C>G (n.*7785C>G)
c.7725C>G (p.Asn2575Lys)
c.7779C>G (p.Asn2593Lys)
c.231-13276C>G
c.7809C>G (p.Asn2603Lys)
c.7704C>G (p.Asn2568Lys)
c.7695C>G (p.Asn2565Lys)
c.7656C>G (p.Asn2552Lys)
c.7602C>G (p.Asn2534Lys)
c.7506C>G (p.Asn2502Lys)
c.7476C>G (p.Asn2492Lys)
c.7401C>G (p.Asn2467Lys)
c.7299C>G (p.Asn2433Lys)
c.6930C>G (p.Asn2310Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112843373C>TCA446211221APCc.7833C>T (p.Asn2611=)
c.*7785C>T (n.*7785C>T)
c.7725C>T (p.Asn2575=)
c.7779C>T (p.Asn2593=)
c.231-13276C>T
c.7809C>T (p.Asn2603=)
c.7704C>T (p.Asn2568=)
c.7695C>T (p.Asn2565=)
c.7656C>T (p.Asn2552=)
c.7602C>T (p.Asn2534=)
c.7506C>T (p.Asn2502=)
c.7476C>T (p.Asn2492=)
c.7401C>T (p.Asn2467=)
c.7299C>T (p.Asn2433=)
c.6930C>T (p.Asn2310=)
 ClinVar dbSNP gnomAD v4
5g.112843374T>ACA16038232APCc.7834T>A (p.Ser2612Thr)
c.*7786T>A (n.*7786T>A)
c.7726T>A (p.Ser2576Thr)
c.7780T>A (p.Ser2594Thr)
c.231-13275T>A
c.7810T>A (p.Ser2604Thr)
c.7705T>A (p.Ser2569Thr)
c.7696T>A (p.Ser2566Thr)
c.7657T>A (p.Ser2553Thr)
c.7603T>A (p.Ser2535Thr)
c.7507T>A (p.Ser2503Thr)
c.7477T>A (p.Ser2493Thr)
c.7402T>A (p.Ser2468Thr)
c.7300T>A (p.Ser2434Thr)
c.6931T>A (p.Ser2311Thr)
 dbSNP
5g.112843374T>CCA16038233APCc.7834T>C (p.Ser2612Pro)
c.*7786T>C (n.*7786T>C)
c.7726T>C (p.Ser2576Pro)
c.7780T>C (p.Ser2594Pro)
c.231-13275T>C
c.7810T>C (p.Ser2604Pro)
c.7705T>C (p.Ser2569Pro)
c.7696T>C (p.Ser2566Pro)
c.7657T>C (p.Ser2553Pro)
c.7603T>C (p.Ser2535Pro)
c.7507T>C (p.Ser2503Pro)
c.7477T>C (p.Ser2493Pro)
c.7402T>C (p.Ser2468Pro)
c.7300T>C (p.Ser2434Pro)
c.6931T>C (p.Ser2311Pro)
 ClinVar dbSNP
5g.112843374T>GCA16038234APCc.7834T>G (p.Ser2612Ala)
c.*7786T>G (n.*7786T>G)
c.7726T>G (p.Ser2576Ala)
c.7780T>G (p.Ser2594Ala)
c.231-13275T>G
c.7810T>G (p.Ser2604Ala)
c.7705T>G (p.Ser2569Ala)
c.7696T>G (p.Ser2566Ala)
c.7657T>G (p.Ser2553Ala)
c.7603T>G (p.Ser2535Ala)
c.7507T>G (p.Ser2503Ala)
c.7477T>G (p.Ser2493Ala)
c.7402T>G (p.Ser2468Ala)
c.7300T>G (p.Ser2434Ala)
c.6931T>G (p.Ser2311Ala)
 ClinVar dbSNP
5g.112843375C>ACA16038235APCc.7835C>A (p.Ser2612Tyr)
c.*7787C>A (n.*7787C>A)
c.7727C>A (p.Ser2576Tyr)
c.7781C>A (p.Ser2594Tyr)
c.231-13274C>A
c.7811C>A (p.Ser2604Tyr)
c.7706C>A (p.Ser2569Tyr)
c.7697C>A (p.Ser2566Tyr)
c.7658C>A (p.Ser2553Tyr)
c.7604C>A (p.Ser2535Tyr)
c.7508C>A (p.Ser2503Tyr)
c.7478C>A (p.Ser2493Tyr)
c.7403C>A (p.Ser2468Tyr)
c.7301C>A (p.Ser2434Tyr)
c.6932C>A (p.Ser2311Tyr)
 ClinVar dbSNP
5g.112843375C=CA1573473619APCc.7835C= (p.Ser2612=)
c.*7787C= (n.*7787C=)
c.7727C= (p.Ser2576=)
c.7781C= (p.Ser2594=)
c.231-13274C=
c.7811C= (p.Ser2604=)
c.7706C= (p.Ser2569=)
c.7697C= (p.Ser2566=)
c.7658C= (p.Ser2553=)
c.7604C= (p.Ser2535=)
c.7508C= (p.Ser2503=)
c.7478C= (p.Ser2493=)
c.7403C= (p.Ser2468=)
c.7301C= (p.Ser2434=)
c.6932C= (p.Ser2311=)
5g.112843375C>GCA049176APCc.7835C>G (p.Ser2612Cys)
c.*7787C>G (n.*7787C>G)
c.7727C>G (p.Ser2576Cys)
c.7781C>G (p.Ser2594Cys)
c.231-13274C>G
c.7811C>G (p.Ser2604Cys)
c.7706C>G (p.Ser2569Cys)
c.7697C>G (p.Ser2566Cys)
c.7658C>G (p.Ser2553Cys)
c.7604C>G (p.Ser2535Cys)
c.7508C>G (p.Ser2503Cys)
c.7478C>G (p.Ser2493Cys)
c.7403C>G (p.Ser2468Cys)
c.7301C>G (p.Ser2434Cys)
c.6932C>G (p.Ser2311Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843375C>TCA16038236APCc.7835C>T (p.Ser2612Phe)
c.*7787C>T (n.*7787C>T)
c.7727C>T (p.Ser2576Phe)
c.7781C>T (p.Ser2594Phe)
c.231-13274C>T
c.7811C>T (p.Ser2604Phe)
c.7706C>T (p.Ser2569Phe)
c.7697C>T (p.Ser2566Phe)
c.7658C>T (p.Ser2553Phe)
c.7604C>T (p.Ser2535Phe)
c.7508C>T (p.Ser2503Phe)
c.7478C>T (p.Ser2493Phe)
c.7403C>T (p.Ser2468Phe)
c.7301C>T (p.Ser2434Phe)
c.6932C>T (p.Ser2311Phe)
 dbSNP COSMIC
5g.112843376T>ACA446211223APCc.7836T>A (p.Ser2612=)
c.*7788T>A (n.*7788T>A)
c.7728T>A (p.Ser2576=)
c.7782T>A (p.Ser2594=)
c.231-13273T>A
c.7812T>A (p.Ser2604=)
c.7707T>A (p.Ser2569=)
c.7698T>A (p.Ser2566=)
c.7659T>A (p.Ser2553=)
c.7605T>A (p.Ser2535=)
c.7509T>A (p.Ser2503=)
c.7479T>A (p.Ser2493=)
c.7404T>A (p.Ser2468=)
c.7302T>A (p.Ser2434=)
c.6933T>A (p.Ser2311=)
 dbSNP
5g.112843376T>CCA446211224APCc.7836T>C (p.Ser2612=)
c.*7788T>C (n.*7788T>C)
c.7728T>C (p.Ser2576=)
c.7782T>C (p.Ser2594=)
c.231-13273T>C
c.7812T>C (p.Ser2604=)
c.7707T>C (p.Ser2569=)
c.7698T>C (p.Ser2566=)
c.7659T>C (p.Ser2553=)
c.7605T>C (p.Ser2535=)
c.7509T>C (p.Ser2503=)
c.7479T>C (p.Ser2493=)
c.7404T>C (p.Ser2468=)
c.7302T>C (p.Ser2434=)
c.6933T>C (p.Ser2311=)
 ClinVar dbSNP gnomAD v4
5g.112843376T>GCA446211225APCc.7836T>G (p.Ser2612=)
c.*7788T>G (n.*7788T>G)
c.7728T>G (p.Ser2576=)
c.7782T>G (p.Ser2594=)
c.231-13273T>G
c.7812T>G (p.Ser2604=)
c.7707T>G (p.Ser2569=)
c.7698T>G (p.Ser2566=)
c.7659T>G (p.Ser2553=)
c.7605T>G (p.Ser2535=)
c.7509T>G (p.Ser2503=)
c.7479T>G (p.Ser2493=)
c.7404T>G (p.Ser2468=)
c.7302T>G (p.Ser2434=)
c.6933T>G (p.Ser2311=)
 ClinVar dbSNP
5g.112843376T=CA1573473630APCc.7836T= (p.Ser2612=)
c.*7788T= (n.*7788T=)
c.7728T= (p.Ser2576=)
c.7782T= (p.Ser2594=)
c.231-13273T=
c.7812T= (p.Ser2604=)
c.7707T= (p.Ser2569=)
c.7698T= (p.Ser2566=)
c.7659T= (p.Ser2553=)
c.7605T= (p.Ser2535=)
c.7509T= (p.Ser2503=)
c.7479T= (p.Ser2493=)
c.7404T= (p.Ser2468=)
c.7302T= (p.Ser2434=)
c.6933T= (p.Ser2311=)
5g.112843377A=CA1573473640APCc.7837A= (p.Ile2613=)
c.*7789A= (n.*7789A=)
c.7729A= (p.Ile2577=)
c.7783A= (p.Ile2595=)
c.231-13272A=
c.7813A= (p.Ile2605=)
c.7708A= (p.Ile2570=)
c.7699A= (p.Ile2567=)
c.7660A= (p.Ile2554=)
c.7606A= (p.Ile2536=)
c.7510A= (p.Ile2504=)
c.7480A= (p.Ile2494=)
c.7405A= (p.Ile2469=)
c.7303A= (p.Ile2435=)
c.6934A= (p.Ile2312=)
5g.112843377A>CCA16038237APCc.7837A>C (p.Ile2613Leu)
c.*7789A>C (n.*7789A>C)
c.7729A>C (p.Ile2577Leu)
c.7783A>C (p.Ile2595Leu)
c.231-13272A>C
c.7813A>C (p.Ile2605Leu)
c.7708A>C (p.Ile2570Leu)
c.7699A>C (p.Ile2567Leu)
c.7660A>C (p.Ile2554Leu)
c.7606A>C (p.Ile2536Leu)
c.7510A>C (p.Ile2504Leu)
c.7480A>C (p.Ile2494Leu)
c.7405A>C (p.Ile2469Leu)
c.7303A>C (p.Ile2435Leu)
c.6934A>C (p.Ile2312Leu)
 ClinVar dbSNP gnomAD v4
5g.112843377A>GCA16038238APCc.7837A>G (p.Ile2613Val)
c.*7789A>G (n.*7789A>G)
c.7729A>G (p.Ile2577Val)
c.7783A>G (p.Ile2595Val)
c.231-13272A>G
c.7813A>G (p.Ile2605Val)
c.7708A>G (p.Ile2570Val)
c.7699A>G (p.Ile2567Val)
c.7660A>G (p.Ile2554Val)
c.7606A>G (p.Ile2536Val)
c.7510A>G (p.Ile2504Val)
c.7480A>G (p.Ile2494Val)
c.7405A>G (p.Ile2469Val)
c.7303A>G (p.Ile2435Val)
c.6934A>G (p.Ile2312Val)
 ClinVar dbSNP
5g.112843377A>TCA16038239APCc.7837A>T (p.Ile2613Phe)
c.*7789A>T (n.*7789A>T)
c.7729A>T (p.Ile2577Phe)
c.7783A>T (p.Ile2595Phe)
c.231-13272A>T
c.7813A>T (p.Ile2605Phe)
c.7708A>T (p.Ile2570Phe)
c.7699A>T (p.Ile2567Phe)
c.7660A>T (p.Ile2554Phe)
c.7606A>T (p.Ile2536Phe)
c.7510A>T (p.Ile2504Phe)
c.7480A>T (p.Ile2494Phe)
c.7405A>T (p.Ile2469Phe)
c.7303A>T (p.Ile2435Phe)
c.6934A>T (p.Ile2312Phe)
 dbSNP
5g.112843378T>ACA16038240APCc.7838T>A (p.Ile2613Asn)
c.*7790T>A (n.*7790T>A)
c.7730T>A (p.Ile2577Asn)
c.7784T>A (p.Ile2595Asn)
c.231-13271T>A
c.7814T>A (p.Ile2605Asn)
c.7709T>A (p.Ile2570Asn)
c.7700T>A (p.Ile2567Asn)
c.7661T>A (p.Ile2554Asn)
c.7607T>A (p.Ile2536Asn)
c.7511T>A (p.Ile2504Asn)
c.7481T>A (p.Ile2494Asn)
c.7406T>A (p.Ile2469Asn)
c.7304T>A (p.Ile2435Asn)
c.6935T>A (p.Ile2312Asn)
 dbSNP
5g.112843378T>CCA16038241APCc.7838T>C (p.Ile2613Thr)
c.*7790T>C (n.*7790T>C)
c.7730T>C (p.Ile2577Thr)
c.7784T>C (p.Ile2595Thr)
c.231-13271T>C
c.7814T>C (p.Ile2605Thr)
c.7709T>C (p.Ile2570Thr)
c.7700T>C (p.Ile2567Thr)
c.7661T>C (p.Ile2554Thr)
c.7607T>C (p.Ile2536Thr)
c.7511T>C (p.Ile2504Thr)
c.7481T>C (p.Ile2494Thr)
c.7406T>C (p.Ile2469Thr)
c.7304T>C (p.Ile2435Thr)
c.6935T>C (p.Ile2312Thr)
 gnomAD v4
5g.112843378T>GCA16038242APCc.7838T>G (p.Ile2613Ser)
c.*7790T>G (n.*7790T>G)
c.7730T>G (p.Ile2577Ser)
c.7784T>G (p.Ile2595Ser)
c.231-13271T>G
c.7814T>G (p.Ile2605Ser)
c.7709T>G (p.Ile2570Ser)
c.7700T>G (p.Ile2567Ser)
c.7661T>G (p.Ile2554Ser)
c.7607T>G (p.Ile2536Ser)
c.7511T>G (p.Ile2504Ser)
c.7481T>G (p.Ile2494Ser)
c.7406T>G (p.Ile2469Ser)
c.7304T>G (p.Ile2435Ser)
c.6935T>G (p.Ile2312Ser)
 dbSNP
5g.112843379T>ACA446211229APCc.7839T>A (p.Ile2613=)
c.*7791T>A (n.*7791T>A)
c.7731T>A (p.Ile2577=)
c.7785T>A (p.Ile2595=)
c.231-13270T>A
c.7815T>A (p.Ile2605=)
c.7710T>A (p.Ile2570=)
c.7701T>A (p.Ile2567=)
c.7662T>A (p.Ile2554=)
c.7608T>A (p.Ile2536=)
c.7512T>A (p.Ile2504=)
c.7482T>A (p.Ile2494=)
c.7407T>A (p.Ile2469=)
c.7305T>A (p.Ile2435=)
c.6936T>A (p.Ile2312=)
 dbSNP
5g.112843379T>CCA446211230APCc.7839T>C (p.Ile2613=)
c.*7791T>C (n.*7791T>C)
c.7731T>C (p.Ile2577=)
c.7785T>C (p.Ile2595=)
c.231-13270T>C
c.7815T>C (p.Ile2605=)
c.7710T>C (p.Ile2570=)
c.7701T>C (p.Ile2567=)
c.7662T>C (p.Ile2554=)
c.7608T>C (p.Ile2536=)
c.7512T>C (p.Ile2504=)
c.7482T>C (p.Ile2494=)
c.7407T>C (p.Ile2469=)
c.7305T>C (p.Ile2435=)
c.6936T>C (p.Ile2312=)
 dbSNP
5g.112843379T>GCA16038243APCc.7839T>G (p.Ile2613Met)
c.*7791T>G (n.*7791T>G)
c.7731T>G (p.Ile2577Met)
c.7785T>G (p.Ile2595Met)
c.231-13270T>G
c.7815T>G (p.Ile2605Met)
c.7710T>G (p.Ile2570Met)
c.7701T>G (p.Ile2567Met)
c.7662T>G (p.Ile2554Met)
c.7608T>G (p.Ile2536Met)
c.7512T>G (p.Ile2504Met)
c.7482T>G (p.Ile2494Met)
c.7407T>G (p.Ile2469Met)
c.7305T>G (p.Ile2435Met)
c.6936T>G (p.Ile2312Met)
5g.112843380T>ACA16038244APCc.7840T>A (p.Ser2614Thr)
c.*7792T>A (n.*7792T>A)
c.7732T>A (p.Ser2578Thr)
c.7786T>A (p.Ser2596Thr)
c.231-13269T>A
c.7816T>A (p.Ser2606Thr)
c.7711T>A (p.Ser2571Thr)
c.7702T>A (p.Ser2568Thr)
c.7663T>A (p.Ser2555Thr)
c.7609T>A (p.Ser2537Thr)
c.7513T>A (p.Ser2505Thr)
c.7483T>A (p.Ser2495Thr)
c.7408T>A (p.Ser2470Thr)
c.7306T>A (p.Ser2436Thr)
c.6937T>A (p.Ser2313Thr)
 dbSNP
5g.112843380T>CCA16038245APCc.7840T>C (p.Ser2614Pro)
c.*7792T>C (n.*7792T>C)
c.7732T>C (p.Ser2578Pro)
c.7786T>C (p.Ser2596Pro)
c.231-13269T>C
c.7816T>C (p.Ser2606Pro)
c.7711T>C (p.Ser2571Pro)
c.7702T>C (p.Ser2568Pro)
c.7663T>C (p.Ser2555Pro)
c.7609T>C (p.Ser2537Pro)
c.7513T>C (p.Ser2505Pro)
c.7483T>C (p.Ser2495Pro)
c.7408T>C (p.Ser2470Pro)
c.7306T>C (p.Ser2436Pro)
c.6937T>C (p.Ser2313Pro)
5g.112843380T>GCA014059APCc.7840T>G (p.Ser2614Ala)
c.*7792T>G (n.*7792T>G)
c.7732T>G (p.Ser2578Ala)
c.7786T>G (p.Ser2596Ala)
c.231-13269T>G
c.7816T>G (p.Ser2606Ala)
c.7711T>G (p.Ser2571Ala)
c.7702T>G (p.Ser2568Ala)
c.7663T>G (p.Ser2555Ala)
c.7609T>G (p.Ser2537Ala)
c.7513T>G (p.Ser2505Ala)
c.7483T>G (p.Ser2495Ala)
c.7408T>G (p.Ser2470Ala)
c.7306T>G (p.Ser2436Ala)
c.6937T>G (p.Ser2313Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843380T=CA1573473646APCc.7840T= (p.Ser2614=)
c.*7792T= (n.*7792T=)
c.7732T= (p.Ser2578=)
c.7786T= (p.Ser2596=)
c.231-13269T=
c.7816T= (p.Ser2606=)
c.7711T= (p.Ser2571=)
c.7702T= (p.Ser2568=)
c.7663T= (p.Ser2555=)
c.7609T= (p.Ser2537=)
c.7513T= (p.Ser2505=)
c.7483T= (p.Ser2495=)
c.7408T= (p.Ser2470=)
c.7306T= (p.Ser2436=)
c.6937T= (p.Ser2313=)
5g.112843381C>ACA16038246APCc.7841C>A (p.Ser2614Ter)
c.*7793C>A (n.*7793C>A)
c.7733C>A (p.Ser2578Ter)
c.7787C>A (p.Ser2596Ter)
c.231-13268C>A
c.7817C>A (p.Ser2606Ter)
c.7712C>A (p.Ser2571Ter)
c.7703C>A (p.Ser2568Ter)
c.7664C>A (p.Ser2555Ter)
c.7610C>A (p.Ser2537Ter)
c.7514C>A (p.Ser2505Ter)
c.7484C>A (p.Ser2495Ter)
c.7409C>A (p.Ser2470Ter)
c.7307C>A (p.Ser2436Ter)
c.6938C>A (p.Ser2313Ter)
 dbSNP gnomAD v4
5g.112843381C>GCA16038247APCc.7841C>G (p.Ser2614Ter)
c.*7793C>G (n.*7793C>G)
c.7733C>G (p.Ser2578Ter)
c.7787C>G (p.Ser2596Ter)
c.231-13268C>G
c.7817C>G (p.Ser2606Ter)
c.7712C>G (p.Ser2571Ter)
c.7703C>G (p.Ser2568Ter)
c.7664C>G (p.Ser2555Ter)
c.7610C>G (p.Ser2537Ter)
c.7514C>G (p.Ser2505Ter)
c.7484C>G (p.Ser2495Ter)
c.7409C>G (p.Ser2470Ter)
c.7307C>G (p.Ser2436Ter)
c.6938C>G (p.Ser2313Ter)
 dbSNP
5g.112843381C>TCA16038248APCc.7841C>T (p.Ser2614Leu)
c.*7793C>T (n.*7793C>T)
c.7733C>T (p.Ser2578Leu)
c.7787C>T (p.Ser2596Leu)
c.231-13268C>T
c.7817C>T (p.Ser2606Leu)
c.7712C>T (p.Ser2571Leu)
c.7703C>T (p.Ser2568Leu)
c.7664C>T (p.Ser2555Leu)
c.7610C>T (p.Ser2537Leu)
c.7514C>T (p.Ser2505Leu)
c.7484C>T (p.Ser2495Leu)
c.7409C>T (p.Ser2470Leu)
c.7307C>T (p.Ser2436Leu)
c.6938C>T (p.Ser2313Leu)
 dbSNP
5g.112843382A>CCA446211232APCc.7842A>C (p.Ser2614=)
c.*7794A>C (n.*7794A>C)
c.7734A>C (p.Ser2578=)
c.7788A>C (p.Ser2596=)
c.231-13267A>C
c.7818A>C (p.Ser2606=)
c.7713A>C (p.Ser2571=)
c.7704A>C (p.Ser2568=)
c.7665A>C (p.Ser2555=)
c.7611A>C (p.Ser2537=)
c.7515A>C (p.Ser2505=)
c.7485A>C (p.Ser2495=)
c.7410A>C (p.Ser2470=)
c.7308A>C (p.Ser2436=)
c.6939A>C (p.Ser2313=)
5g.112843382A>GCA446211233APCc.7842A>G (p.Ser2614=)
c.*7794A>G (n.*7794A>G)
c.7734A>G (p.Ser2578=)
c.7788A>G (p.Ser2596=)
c.231-13267A>G
c.7818A>G (p.Ser2606=)
c.7713A>G (p.Ser2571=)
c.7704A>G (p.Ser2568=)
c.7665A>G (p.Ser2555=)
c.7611A>G (p.Ser2537=)
c.7515A>G (p.Ser2505=)
c.7485A>G (p.Ser2495=)
c.7410A>G (p.Ser2470=)
c.7308A>G (p.Ser2436=)
c.6939A>G (p.Ser2313=)
 dbSNP
5g.112843382A>TCA446211234APCc.7842A>T (p.Ser2614=)
c.*7794A>T (n.*7794A>T)
c.7734A>T (p.Ser2578=)
c.7788A>T (p.Ser2596=)
c.231-13267A>T
c.7818A>T (p.Ser2606=)
c.7713A>T (p.Ser2571=)
c.7704A>T (p.Ser2568=)
c.7665A>T (p.Ser2555=)
c.7611A>T (p.Ser2537=)
c.7515A>T (p.Ser2505=)
c.7485A>T (p.Ser2495=)
c.7410A>T (p.Ser2470=)
c.7308A>T (p.Ser2436=)
c.6939A>T (p.Ser2313=)
 dbSNP
5g.112843383G>ACA16038249APCc.7843G>A (p.Gly2615Arg)
c.*7795G>A (n.*7795G>A)
c.7735G>A (p.Gly2579Arg)
c.7789G>A (p.Gly2597Arg)
c.231-13266G>A
c.7819G>A (p.Gly2607Arg)
c.7714G>A (p.Gly2572Arg)
c.7705G>A (p.Gly2569Arg)
c.7666G>A (p.Gly2556Arg)
c.7612G>A (p.Gly2538Arg)
c.7516G>A (p.Gly2506Arg)
c.7486G>A (p.Gly2496Arg)
c.7411G>A (p.Gly2471Arg)
c.7309G>A (p.Gly2437Arg)
c.6940G>A (p.Gly2314Arg)
 ClinVar dbSNP
5g.112843383G>CCA16038250APCc.7843G>C (p.Gly2615Arg)
c.*7795G>C (n.*7795G>C)
c.7735G>C (p.Gly2579Arg)
c.7789G>C (p.Gly2597Arg)
c.231-13266G>C
c.7819G>C (p.Gly2607Arg)
c.7714G>C (p.Gly2572Arg)
c.7705G>C (p.Gly2569Arg)
c.7666G>C (p.Gly2556Arg)
c.7612G>C (p.Gly2538Arg)
c.7516G>C (p.Gly2506Arg)
c.7486G>C (p.Gly2496Arg)
c.7411G>C (p.Gly2471Arg)
c.7309G>C (p.Gly2437Arg)
c.6940G>C (p.Gly2314Arg)
 dbSNP gnomAD v4
5g.112843383G>TCA16038251APCc.7843G>T (p.Gly2615Ter)
c.*7795G>T (n.*7795G>T)
c.7735G>T (p.Gly2579Ter)
c.7789G>T (p.Gly2597Ter)
c.231-13266G>T
c.7819G>T (p.Gly2607Ter)
c.7714G>T (p.Gly2572Ter)
c.7705G>T (p.Gly2569Ter)
c.7666G>T (p.Gly2556Ter)
c.7612G>T (p.Gly2538Ter)
c.7516G>T (p.Gly2506Ter)
c.7486G>T (p.Gly2496Ter)
c.7411G>T (p.Gly2471Ter)
c.7309G>T (p.Gly2437Ter)
c.6940G>T (p.Gly2314Ter)
 dbSNP
5g.112843383_112843384delinsTTCA2697546408APCc.7843_7844delinsTT (p.Gly2615Leu)
c.*7795_*7796delinsTT (n.*7795_*7796delinsTT)
c.7735_7736delinsTT (p.Gly2579Leu)
c.7789_7790delinsTT (p.Gly2597Leu)
c.231-13266_231-13265delinsTT
c.7819_7820delinsTT (p.Gly2607Leu)
c.7714_7715delinsTT (p.Gly2572Leu)
c.7705_7706delinsTT (p.Gly2569Leu)
c.7666_7667delinsTT (p.Gly2556Leu)
c.7612_7613delinsTT (p.Gly2538Leu)
c.7516_7517delinsTT (p.Gly2506Leu)
c.7486_7487delinsTT (p.Gly2496Leu)
c.7411_7412delinsTT (p.Gly2471Leu)
c.7309_7310delinsTT (p.Gly2437Leu)
c.6940_6941delinsTT (p.Gly2314Leu)
 ClinVar
5g.112843384G>ACA049212APCc.7844G>A (p.Gly2615Glu)
c.*7796G>A (n.*7796G>A)
c.7736G>A (p.Gly2579Glu)
c.7790G>A (p.Gly2597Glu)
c.231-13265G>A
c.7820G>A (p.Gly2607Glu)
c.7715G>A (p.Gly2572Glu)
c.7706G>A (p.Gly2569Glu)
c.7667G>A (p.Gly2556Glu)
c.7613G>A (p.Gly2538Glu)
c.7517G>A (p.Gly2506Glu)
c.7487G>A (p.Gly2496Glu)
c.7412G>A (p.Gly2471Glu)
c.7310G>A (p.Gly2437Glu)
c.6941G>A (p.Gly2314Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112843384G>CCA16038252APCc.7844G>C (p.Gly2615Ala)
c.*7796G>C (n.*7796G>C)
c.7736G>C (p.Gly2579Ala)
c.7790G>C (p.Gly2597Ala)
c.231-13265G>C
c.7820G>C (p.Gly2607Ala)
c.7715G>C (p.Gly2572Ala)
c.7706G>C (p.Gly2569Ala)
c.7667G>C (p.Gly2556Ala)
c.7613G>C (p.Gly2538Ala)
c.7517G>C (p.Gly2506Ala)
c.7487G>C (p.Gly2496Ala)
c.7412G>C (p.Gly2471Ala)
c.7310G>C (p.Gly2437Ala)
c.6941G>C (p.Gly2314Ala)
 dbSNP
5g.112843384G=CA1573473656APCc.7844G= (p.Gly2615=)
c.*7796G= (n.*7796G=)
c.7736G= (p.Gly2579=)
c.7790G= (p.Gly2597=)
c.231-13265G=
c.7820G= (p.Gly2607=)
c.7715G= (p.Gly2572=)
c.7706G= (p.Gly2569=)
c.7667G= (p.Gly2556=)
c.7613G= (p.Gly2538=)
c.7517G= (p.Gly2506=)
c.7487G= (p.Gly2496=)
c.7412G= (p.Gly2471=)
c.7310G= (p.Gly2437=)
c.6941G= (p.Gly2314=)
5g.112843384G>TCA16038253APCc.7844G>T (p.Gly2615Val)
c.*7796G>T (n.*7796G>T)
c.7736G>T (p.Gly2579Val)
c.7790G>T (p.Gly2597Val)
c.231-13265G>T
c.7820G>T (p.Gly2607Val)
c.7715G>T (p.Gly2572Val)
c.7706G>T (p.Gly2569Val)
c.7667G>T (p.Gly2556Val)
c.7613G>T (p.Gly2538Val)
c.7517G>T (p.Gly2506Val)
c.7487G>T (p.Gly2496Val)
c.7412G>T (p.Gly2471Val)
c.7310G>T (p.Gly2437Val)
c.6941G>T (p.Gly2314Val)
 dbSNP
5g.112843385A>CCA446211236APCc.7845A>C (p.Gly2615=)
c.*7797A>C (n.*7797A>C)
c.7737A>C (p.Gly2579=)
c.7791A>C (p.Gly2597=)
c.231-13264A>C
c.7821A>C (p.Gly2607=)
c.7716A>C (p.Gly2572=)
c.7707A>C (p.Gly2569=)
c.7668A>C (p.Gly2556=)
c.7614A>C (p.Gly2538=)
c.7518A>C (p.Gly2506=)
c.7488A>C (p.Gly2496=)
c.7413A>C (p.Gly2471=)
c.7311A>C (p.Gly2437=)
c.6942A>C (p.Gly2314=)
5g.112843385A>GCA446211238APCc.7845A>G (p.Gly2615=)
c.*7797A>G (n.*7797A>G)
c.7737A>G (p.Gly2579=)
c.7791A>G (p.Gly2597=)
c.231-13264A>G
c.7821A>G (p.Gly2607=)
c.7716A>G (p.Gly2572=)
c.7707A>G (p.Gly2569=)
c.7668A>G (p.Gly2556=)
c.7614A>G (p.Gly2538=)
c.7518A>G (p.Gly2506=)
c.7488A>G (p.Gly2496=)
c.7413A>G (p.Gly2471=)
c.7311A>G (p.Gly2437=)
c.6942A>G (p.Gly2314=)
 dbSNP
5g.112843385A>TCA446211237APCc.7845A>T (p.Gly2615=)
c.*7797A>T (n.*7797A>T)
c.7737A>T (p.Gly2579=)
c.7791A>T (p.Gly2597=)
c.231-13264A>T
c.7821A>T (p.Gly2607=)
c.7716A>T (p.Gly2572=)
c.7707A>T (p.Gly2569=)
c.7668A>T (p.Gly2556=)
c.7614A>T (p.Gly2538=)
c.7518A>T (p.Gly2506=)
c.7488A>T (p.Gly2496=)
c.7413A>T (p.Gly2471=)
c.7311A>T (p.Gly2437=)
c.6942A>T (p.Gly2314=)
 dbSNP
5g.112843386A>CCA16038254APCc.7846A>C (p.Thr2616Pro)
c.*7798A>C (n.*7798A>C)
c.7738A>C (p.Thr2580Pro)
c.7792A>C (p.Thr2598Pro)
c.231-13263A>C
c.7822A>C (p.Thr2608Pro)
c.7717A>C (p.Thr2573Pro)
c.7708A>C (p.Thr2570Pro)
c.7669A>C (p.Thr2557Pro)
c.7615A>C (p.Thr2539Pro)
c.7519A>C (p.Thr2507Pro)
c.7489A>C (p.Thr2497Pro)
c.7414A>C (p.Thr2472Pro)
c.7312A>C (p.Thr2438Pro)
c.6943A>C (p.Thr2315Pro)
5g.112843386A>GCA16038255APCc.7846A>G (p.Thr2616Ala)
c.*7798A>G (n.*7798A>G)
c.7738A>G (p.Thr2580Ala)
c.7792A>G (p.Thr2598Ala)
c.231-13263A>G
c.7822A>G (p.Thr2608Ala)
c.7717A>G (p.Thr2573Ala)
c.7708A>G (p.Thr2570Ala)
c.7669A>G (p.Thr2557Ala)
c.7615A>G (p.Thr2539Ala)
c.7519A>G (p.Thr2507Ala)
c.7489A>G (p.Thr2497Ala)
c.7414A>G (p.Thr2472Ala)
c.7312A>G (p.Thr2438Ala)
c.6943A>G (p.Thr2315Ala)
5g.112843386A>TCA16038256APCc.7846A>T (p.Thr2616Ser)
c.*7798A>T (n.*7798A>T)
c.7738A>T (p.Thr2580Ser)
c.7792A>T (p.Thr2598Ser)
c.231-13263A>T
c.7822A>T (p.Thr2608Ser)
c.7717A>T (p.Thr2573Ser)
c.7708A>T (p.Thr2570Ser)
c.7669A>T (p.Thr2557Ser)
c.7615A>T (p.Thr2539Ser)
c.7519A>T (p.Thr2507Ser)
c.7489A>T (p.Thr2497Ser)
c.7414A>T (p.Thr2472Ser)
c.7312A>T (p.Thr2438Ser)
c.6943A>T (p.Thr2315Ser)
5g.112843387C>ACA049224APCc.7847C>A (p.Thr2616Asn)
c.*7799C>A (n.*7799C>A)
c.7739C>A (p.Thr2580Asn)
c.7793C>A (p.Thr2598Asn)
c.231-13262C>A
c.7823C>A (p.Thr2608Asn)
c.7718C>A (p.Thr2573Asn)
c.7709C>A (p.Thr2570Asn)
c.7670C>A (p.Thr2557Asn)
c.7616C>A (p.Thr2539Asn)
c.7520C>A (p.Thr2507Asn)
c.7490C>A (p.Thr2497Asn)
c.7415C>A (p.Thr2472Asn)
c.7313C>A (p.Thr2438Asn)
c.6944C>A (p.Thr2315Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843387C=CA1573473694APCc.7847C= (p.Thr2616=)
c.*7799C= (n.*7799C=)
c.7739C= (p.Thr2580=)
c.7793C= (p.Thr2598=)
c.231-13262C=
c.7823C= (p.Thr2608=)
c.7718C= (p.Thr2573=)
c.7709C= (p.Thr2570=)
c.7670C= (p.Thr2557=)
c.7616C= (p.Thr2539=)
c.7520C= (p.Thr2507=)
c.7490C= (p.Thr2497=)
c.7415C= (p.Thr2472=)
c.7313C= (p.Thr2438=)
c.6944C= (p.Thr2315=)
5g.112843387C>GCA16038257APCc.7847C>G (p.Thr2616Ser)
c.*7799C>G (n.*7799C>G)
c.7739C>G (p.Thr2580Ser)
c.7793C>G (p.Thr2598Ser)
c.231-13262C>G
c.7823C>G (p.Thr2608Ser)
c.7718C>G (p.Thr2573Ser)
c.7709C>G (p.Thr2570Ser)
c.7670C>G (p.Thr2557Ser)
c.7616C>G (p.Thr2539Ser)
c.7520C>G (p.Thr2507Ser)
c.7490C>G (p.Thr2497Ser)
c.7415C>G (p.Thr2472Ser)
c.7313C>G (p.Thr2438Ser)
c.6944C>G (p.Thr2315Ser)
 ClinVar dbSNP
5g.112843387C>TCA16038258APCc.7847C>T (p.Thr2616Ile)
c.*7799C>T (n.*7799C>T)
c.7739C>T (p.Thr2580Ile)
c.7793C>T (p.Thr2598Ile)
c.231-13262C>T
c.7823C>T (p.Thr2608Ile)
c.7718C>T (p.Thr2573Ile)
c.7709C>T (p.Thr2570Ile)
c.7670C>T (p.Thr2557Ile)
c.7616C>T (p.Thr2539Ile)
c.7520C>T (p.Thr2507Ile)
c.7490C>T (p.Thr2497Ile)
c.7415C>T (p.Thr2472Ile)
c.7313C>T (p.Thr2438Ile)
c.6944C>T (p.Thr2315Ile)
 ClinVar dbSNP
5g.112843387_112843391delinsCCAAACA1573473678APCc.7847_7851delinsCCAAA (p.Thr2616=)
c.*7799_*7803delinsCCAAA (n.*7799_*7803delinsCCAAA)
c.7739_7743delinsCCAAA (p.Thr2580=)
c.7793_7797delinsCCAAA (p.Thr2598=)
c.231-13262_231-13258delinsCCAAA
c.7823_7827delinsCCAAA (p.Thr2608=)
c.7718_7722delinsCCAAA (p.Thr2573=)
c.7709_7713delinsCCAAA (p.Thr2570=)
c.7670_7674delinsCCAAA (p.Thr2557=)
c.7616_7620delinsCCAAA (p.Thr2539=)
c.7520_7524delinsCCAAA (p.Thr2507=)
c.7490_7494delinsCCAAA (p.Thr2497=)
c.7415_7419delinsCCAAA (p.Thr2472=)
c.7313_7317delinsCCAAA (p.Thr2438=)
c.6944_6948delinsCCAAA (p.Thr2315=)
5g.112843388C>ACA446211240APCc.7848C>A (p.Thr2616=)
c.*7800C>A (n.*7800C>A)
c.7740C>A (p.Thr2580=)
c.7794C>A (p.Thr2598=)
c.231-13261C>A
c.7824C>A (p.Thr2608=)
c.7719C>A (p.Thr2573=)
c.7710C>A (p.Thr2570=)
c.7671C>A (p.Thr2557=)
c.7617C>A (p.Thr2539=)
c.7521C>A (p.Thr2507=)
c.7491C>A (p.Thr2497=)
c.7416C>A (p.Thr2472=)
c.7314C>A (p.Thr2438=)
c.6945C>A (p.Thr2315=)
5g.112843388C=CA1573473707APCc.7848C= (p.Thr2616=)
c.*7800C= (n.*7800C=)
c.7740C= (p.Thr2580=)
c.7794C= (p.Thr2598=)
c.231-13261C=
c.7824C= (p.Thr2608=)
c.7719C= (p.Thr2573=)
c.7710C= (p.Thr2570=)
c.7671C= (p.Thr2557=)
c.7617C= (p.Thr2539=)
c.7521C= (p.Thr2507=)
c.7491C= (p.Thr2497=)
c.7416C= (p.Thr2472=)
c.7314C= (p.Thr2438=)
c.6945C= (p.Thr2315=)
5g.112843388C>GCA446211241APCc.7848C>G (p.Thr2616=)
c.*7800C>G (n.*7800C>G)
c.7740C>G (p.Thr2580=)
c.7794C>G (p.Thr2598=)
c.231-13261C>G
c.7824C>G (p.Thr2608=)
c.7719C>G (p.Thr2573=)
c.7710C>G (p.Thr2570=)
c.7671C>G (p.Thr2557=)
c.7617C>G (p.Thr2539=)
c.7521C>G (p.Thr2507=)
c.7491C>G (p.Thr2497=)
c.7416C>G (p.Thr2472=)
c.7314C>G (p.Thr2438=)
c.6945C>G (p.Thr2315=)
 ClinVar dbSNP gnomAD v4
5g.112843388C>TCA446211242APCc.7848C>T (p.Thr2616=)
c.*7800C>T (n.*7800C>T)
c.7740C>T (p.Thr2580=)
c.7794C>T (p.Thr2598=)
c.231-13261C>T
c.7824C>T (p.Thr2608=)
c.7719C>T (p.Thr2573=)
c.7710C>T (p.Thr2570=)
c.7671C>T (p.Thr2557=)
c.7617C>T (p.Thr2539=)
c.7521C>T (p.Thr2507=)
c.7491C>T (p.Thr2497=)
c.7416C>T (p.Thr2472=)
c.7314C>T (p.Thr2438=)
c.6945C>T (p.Thr2315=)
 ClinVar dbSNP gnomAD v4
5g.112843392_112843395delCA562217624APCc.7852_7855del (p.Gln2618ValfsTer15)
c.*7804_*7807del (n.*7804_*7807del)
c.7744_7747del (p.Gln2582ValfsTer15)
c.7798_7801del (p.Gln2600ValfsTer15)
c.231-13257_231-13254del
c.7828_7831del (p.Gln2610ValfsTer15)
c.7723_7726del (p.Gln2575ValfsTer15)
c.7714_7717del (p.Gln2572ValfsTer15)
c.7675_7678del (p.Gln2559ValfsTer15)
c.7621_7624del (p.Gln2541ValfsTer15)
c.7525_7528del (p.Gln2509ValfsTer15)
c.7495_7498del (p.Gln2499ValfsTer15)
c.7420_7423del (p.Gln2474ValfsTer15)
c.7318_7321del (p.Gln2440ValfsTer15)
c.6949_6952del (p.Gln2317ValfsTer15)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112843389A>CCA16038259APCc.7849A>C (p.Lys2617Gln)
c.*7801A>C (n.*7801A>C)
c.7741A>C (p.Lys2581Gln)
c.7795A>C (p.Lys2599Gln)
c.231-13260A>C
c.7825A>C (p.Lys2609Gln)
c.7720A>C (p.Lys2574Gln)
c.7711A>C (p.Lys2571Gln)
c.7672A>C (p.Lys2558Gln)
c.7618A>C (p.Lys2540Gln)
c.7522A>C (p.Lys2508Gln)
c.7492A>C (p.Lys2498Gln)
c.7417A>C (p.Lys2473Gln)
c.7315A>C (p.Lys2439Gln)
c.6946A>C (p.Lys2316Gln)
 gnomAD v4
5g.112843389A>GCA16038260APCc.7849A>G (p.Lys2617Glu)
c.*7801A>G (n.*7801A>G)
c.7741A>G (p.Lys2581Glu)
c.7795A>G (p.Lys2599Glu)
c.231-13260A>G
c.7825A>G (p.Lys2609Glu)
c.7720A>G (p.Lys2574Glu)
c.7711A>G (p.Lys2571Glu)
c.7672A>G (p.Lys2558Glu)
c.7618A>G (p.Lys2540Glu)
c.7522A>G (p.Lys2508Glu)
c.7492A>G (p.Lys2498Glu)
c.7417A>G (p.Lys2473Glu)
c.7315A>G (p.Lys2439Glu)
c.6946A>G (p.Lys2316Glu)
 dbSNP
5g.112843389A>TCA16038261APCc.7849A>T (p.Lys2617Ter)
c.*7801A>T (n.*7801A>T)
c.7741A>T (p.Lys2581Ter)
c.7795A>T (p.Lys2599Ter)
c.231-13260A>T
c.7825A>T (p.Lys2609Ter)
c.7720A>T (p.Lys2574Ter)
c.7711A>T (p.Lys2571Ter)
c.7672A>T (p.Lys2558Ter)
c.7618A>T (p.Lys2540Ter)
c.7522A>T (p.Lys2508Ter)
c.7492A>T (p.Lys2498Ter)
c.7417A>T (p.Lys2473Ter)
c.7315A>T (p.Lys2439Ter)
c.6946A>T (p.Lys2316Ter)
 dbSNP
5g.112843390A>CCA16038262APCc.7850A>C (p.Lys2617Thr)
c.*7802A>C (n.*7802A>C)
c.7742A>C (p.Lys2581Thr)
c.7796A>C (p.Lys2599Thr)
c.231-13259A>C
c.7826A>C (p.Lys2609Thr)
c.7721A>C (p.Lys2574Thr)
c.7712A>C (p.Lys2571Thr)
c.7673A>C (p.Lys2558Thr)
c.7619A>C (p.Lys2540Thr)
c.7523A>C (p.Lys2508Thr)
c.7493A>C (p.Lys2498Thr)
c.7418A>C (p.Lys2473Thr)
c.7316A>C (p.Lys2439Thr)
c.6947A>C (p.Lys2316Thr)
5g.112843390A>GCA16038263APCc.7850A>G (p.Lys2617Arg)
c.*7802A>G (n.*7802A>G)
c.7742A>G (p.Lys2581Arg)
c.7796A>G (p.Lys2599Arg)
c.231-13259A>G
c.7826A>G (p.Lys2609Arg)
c.7721A>G (p.Lys2574Arg)
c.7712A>G (p.Lys2571Arg)
c.7673A>G (p.Lys2558Arg)
c.7619A>G (p.Lys2540Arg)
c.7523A>G (p.Lys2508Arg)
c.7493A>G (p.Lys2498Arg)
c.7418A>G (p.Lys2473Arg)
c.7316A>G (p.Lys2439Arg)
c.6947A>G (p.Lys2316Arg)
5g.112843390A>TCA16038264APCc.7850A>T (p.Lys2617Ile)
c.*7802A>T (n.*7802A>T)
c.7742A>T (p.Lys2581Ile)
c.7796A>T (p.Lys2599Ile)
c.231-13259A>T
c.7826A>T (p.Lys2609Ile)
c.7721A>T (p.Lys2574Ile)
c.7712A>T (p.Lys2571Ile)
c.7673A>T (p.Lys2558Ile)
c.7619A>T (p.Lys2540Ile)
c.7523A>T (p.Lys2508Ile)
c.7493A>T (p.Lys2498Ile)
c.7418A>T (p.Lys2473Ile)
c.7316A>T (p.Lys2439Ile)
c.6947A>T (p.Lys2316Ile)
 dbSNP
5g.112843391A=CA1573473717APCc.7851A= (p.Lys2617=)
c.*7803A= (n.*7803A=)
c.7743A= (p.Lys2581=)
c.7797A= (p.Lys2599=)
c.231-13258A=
c.7827A= (p.Lys2609=)
c.7722A= (p.Lys2574=)
c.7713A= (p.Lys2571=)
c.7674A= (p.Lys2558=)
c.7620A= (p.Lys2540=)
c.7524A= (p.Lys2508=)
c.7494A= (p.Lys2498=)
c.7419A= (p.Lys2473=)
c.7317A= (p.Lys2439=)
c.6948A= (p.Lys2316=)
5g.112843391A>CCA014071APCc.7851A>C (p.Lys2617Asn)
c.*7803A>C (n.*7803A>C)
c.7743A>C (p.Lys2581Asn)
c.7797A>C (p.Lys2599Asn)
c.231-13258A>C
c.7827A>C (p.Lys2609Asn)
c.7722A>C (p.Lys2574Asn)
c.7713A>C (p.Lys2571Asn)
c.7674A>C (p.Lys2558Asn)
c.7620A>C (p.Lys2540Asn)
c.7524A>C (p.Lys2508Asn)
c.7494A>C (p.Lys2498Asn)
c.7419A>C (p.Lys2473Asn)
c.7317A>C (p.Lys2439Asn)
c.6948A>C (p.Lys2316Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.112843391A>GCA446211243APCc.7851A>G (p.Lys2617=)
c.*7803A>G (n.*7803A>G)
c.7743A>G (p.Lys2581=)
c.7797A>G (p.Lys2599=)
c.231-13258A>G
c.7827A>G (p.Lys2609=)
c.7722A>G (p.Lys2574=)
c.7713A>G (p.Lys2571=)
c.7674A>G (p.Lys2558=)
c.7620A>G (p.Lys2540=)
c.7524A>G (p.Lys2508=)
c.7494A>G (p.Lys2498=)
c.7419A>G (p.Lys2473=)
c.7317A>G (p.Lys2439=)
c.6948A>G (p.Lys2316=)
 ClinVar
5g.112843391A>TCA16038265APCc.7851A>T (p.Lys2617Asn)
c.*7803A>T (n.*7803A>T)
c.7743A>T (p.Lys2581Asn)
c.7797A>T (p.Lys2599Asn)
c.231-13258A>T
c.7827A>T (p.Lys2609Asn)
c.7722A>T (p.Lys2574Asn)
c.7713A>T (p.Lys2571Asn)
c.7674A>T (p.Lys2558Asn)
c.7620A>T (p.Lys2540Asn)
c.7524A>T (p.Lys2508Asn)
c.7494A>T (p.Lys2498Asn)
c.7419A>T (p.Lys2473Asn)
c.7317A>T (p.Lys2439Asn)
c.6948A>T (p.Lys2316Asn)
 dbSNP
5g.112843392C>ACA16038266APCc.7852C>A (p.Gln2618Lys)
c.*7804C>A (n.*7804C>A)
c.7744C>A (p.Gln2582Lys)
c.7798C>A (p.Gln2600Lys)
c.231-13257C>A
c.7828C>A (p.Gln2610Lys)
c.7723C>A (p.Gln2575Lys)
c.7714C>A (p.Gln2572Lys)
c.7675C>A (p.Gln2559Lys)
c.7621C>A (p.Gln2541Lys)
c.7525C>A (p.Gln2509Lys)
c.7495C>A (p.Gln2499Lys)
c.7420C>A (p.Gln2474Lys)
c.7318C>A (p.Gln2440Lys)
c.6949C>A (p.Gln2317Lys)
 dbSNP
5g.112843392C=CA1573473776APCc.7852C= (p.Gln2618=)
c.*7804C= (n.*7804C=)
c.7744C= (p.Gln2582=)
c.7798C= (p.Gln2600=)
c.231-13257C=
c.7828C= (p.Gln2610=)
c.7723C= (p.Gln2575=)
c.7714C= (p.Gln2572=)
c.7675C= (p.Gln2559=)
c.7621C= (p.Gln2541=)
c.7525C= (p.Gln2509=)
c.7495C= (p.Gln2499=)
c.7420C= (p.Gln2474=)
c.7318C= (p.Gln2440=)
c.6949C= (p.Gln2317=)
5g.112843392C>GCA16038267APCc.7852C>G (p.Gln2618Glu)
c.*7804C>G (n.*7804C>G)
c.7744C>G (p.Gln2582Glu)
c.7798C>G (p.Gln2600Glu)
c.231-13257C>G
c.7828C>G (p.Gln2610Glu)
c.7723C>G (p.Gln2575Glu)
c.7714C>G (p.Gln2572Glu)
c.7675C>G (p.Gln2559Glu)
c.7621C>G (p.Gln2541Glu)
c.7525C>G (p.Gln2509Glu)
c.7495C>G (p.Gln2499Glu)
c.7420C>G (p.Gln2474Glu)
c.7318C>G (p.Gln2440Glu)
c.6949C>G (p.Gln2317Glu)
 ClinVar dbSNP
5g.112843392C>TCA16038268APCc.7852C>T (p.Gln2618Ter)
c.*7804C>T (n.*7804C>T)
c.7744C>T (p.Gln2582Ter)
c.7798C>T (p.Gln2600Ter)
c.231-13257C>T
c.7828C>T (p.Gln2610Ter)
c.7723C>T (p.Gln2575Ter)
c.7714C>T (p.Gln2572Ter)
c.7675C>T (p.Gln2559Ter)
c.7621C>T (p.Gln2541Ter)
c.7525C>T (p.Gln2509Ter)
c.7495C>T (p.Gln2499Ter)
c.7420C>T (p.Gln2474Ter)
c.7318C>T (p.Gln2440Ter)
c.6949C>T (p.Gln2317Ter)
5g.112843392_112843397delinsCAAAGTCA1573473723APCc.7852_7857delinsCAAAGT (p.Gln2618=)
c.*7804_*7809delinsCAAAGT (n.*7804_*7809delinsCAAAGT)
c.7744_7749delinsCAAAGT (p.Gln2582=)
c.7798_7803delinsCAAAGT (p.Gln2600=)
c.231-13257_231-13252delinsCAAAGT
c.7828_7833delinsCAAAGT (p.Gln2610=)
c.7723_7728delinsCAAAGT (p.Gln2575=)
c.7714_7719delinsCAAAGT (p.Gln2572=)
c.7675_7680delinsCAAAGT (p.Gln2559=)
c.7621_7626delinsCAAAGT (p.Gln2541=)
c.7525_7530delinsCAAAGT (p.Gln2509=)
c.7495_7500delinsCAAAGT (p.Gln2499=)
c.7420_7425delinsCAAAGT (p.Gln2474=)
c.7318_7323delinsCAAAGT (p.Gln2440=)
c.6949_6954delinsCAAAGT (p.Gln2317=)
5g.112843393A>CCA16038269APCc.7853A>C (p.Gln2618Pro)
c.*7805A>C (n.*7805A>C)
c.7745A>C (p.Gln2582Pro)
c.7799A>C (p.Gln2600Pro)
c.231-13256A>C
c.7829A>C (p.Gln2610Pro)
c.7724A>C (p.Gln2575Pro)
c.7715A>C (p.Gln2572Pro)
c.7676A>C (p.Gln2559Pro)
c.7622A>C (p.Gln2541Pro)
c.7526A>C (p.Gln2509Pro)
c.7496A>C (p.Gln2499Pro)
c.7421A>C (p.Gln2474Pro)
c.7319A>C (p.Gln2440Pro)
c.6950A>C (p.Gln2317Pro)
 gnomAD v3 gnomAD v4
5g.112843393A>GCA16038270APCc.7853A>G (p.Gln2618Arg)
c.*7805A>G (n.*7805A>G)
c.7745A>G (p.Gln2582Arg)
c.7799A>G (p.Gln2600Arg)
c.231-13256A>G
c.7829A>G (p.Gln2610Arg)
c.7724A>G (p.Gln2575Arg)
c.7715A>G (p.Gln2572Arg)
c.7676A>G (p.Gln2559Arg)
c.7622A>G (p.Gln2541Arg)
c.7526A>G (p.Gln2509Arg)
c.7496A>G (p.Gln2499Arg)
c.7421A>G (p.Gln2474Arg)
c.7319A>G (p.Gln2440Arg)
c.6950A>G (p.Gln2317Arg)
 ClinVar dbSNP gnomAD v4
5g.112843393A>TCA16038271APCc.7853A>T (p.Gln2618Leu)
c.*7805A>T (n.*7805A>T)
c.7745A>T (p.Gln2582Leu)
c.7799A>T (p.Gln2600Leu)
c.231-13256A>T
c.7829A>T (p.Gln2610Leu)
c.7724A>T (p.Gln2575Leu)
c.7715A>T (p.Gln2572Leu)
c.7676A>T (p.Gln2559Leu)
c.7622A>T (p.Gln2541Leu)
c.7526A>T (p.Gln2509Leu)
c.7496A>T (p.Gln2499Leu)
c.7421A>T (p.Gln2474Leu)
c.7319A>T (p.Gln2440Leu)
c.6950A>T (p.Gln2317Leu)
5g.112843394_112843395delCA2674869722APCc.7854_7855del (p.Ser2619Ter)
c.*7806_*7807del (n.*7806_*7807del)
c.7746_7747del (p.Ser2583Ter)
c.7800_7801del (p.Ser2601Ter)
c.231-13255_231-13254del
c.7830_7831del (p.Ser2611Ter)
c.7725_7726del (p.Ser2576Ter)
c.7716_7717del (p.Ser2573Ter)
c.7677_7678del (p.Ser2560Ter)
c.7623_7624del (p.Ser2542Ter)
c.7527_7528del (p.Ser2510Ter)
c.7497_7498del (p.Ser2500Ter)
c.7422_7423del (p.Ser2475Ter)
c.7320_7321del (p.Ser2441Ter)
c.6951_6952del (p.Ser2318Ter)
 gnomAD v4
5g.112843397_112843401delCA915943525APCc.7857_7861del (p.Ser2619ArgfsTer17)
c.*7809_*7813del (n.*7809_*7813del)
c.7749_7753del (p.Ser2583ArgfsTer17)
c.7803_7807del (p.Ser2601ArgfsTer17)
c.231-13252_231-13248del
c.7833_7837del (p.Ser2611ArgfsTer17)
c.7728_7732del (p.Ser2576ArgfsTer17)
c.7719_7723del (p.Ser2573ArgfsTer17)
c.7680_7684del (p.Ser2560ArgfsTer17)
c.7626_7630del (p.Ser2542ArgfsTer17)
c.7530_7534del (p.Ser2510ArgfsTer17)
c.7500_7504del (p.Ser2500ArgfsTer17)
c.7425_7429del (p.Ser2475ArgfsTer17)
c.7323_7327del (p.Ser2441ArgfsTer17)
c.6954_6958del (p.Ser2318ArgfsTer17)
 ClinVar dbSNP gnomAD v4
5g.112843394A=CA1573473791APCc.7854A= (p.Gln2618=)
c.*7806A= (n.*7806A=)
c.7746A= (p.Gln2582=)
c.7800A= (p.Gln2600=)
c.231-13255A=
c.7830A= (p.Gln2610=)
c.7725A= (p.Gln2575=)
c.7716A= (p.Gln2572=)
c.7677A= (p.Gln2559=)
c.7623A= (p.Gln2541=)
c.7527A= (p.Gln2509=)
c.7497A= (p.Gln2499=)
c.7422A= (p.Gln2474=)
c.7320A= (p.Gln2440=)
c.6951A= (p.Gln2317=)
5g.112843394A>CCA16038272APCc.7854A>C (p.Gln2618His)
c.*7806A>C (n.*7806A>C)
c.7746A>C (p.Gln2582His)
c.7800A>C (p.Gln2600His)
c.231-13255A>C
c.7830A>C (p.Gln2610His)
c.7725A>C (p.Gln2575His)
c.7716A>C (p.Gln2572His)
c.7677A>C (p.Gln2559His)
c.7623A>C (p.Gln2541His)
c.7527A>C (p.Gln2509His)
c.7497A>C (p.Gln2499His)
c.7422A>C (p.Gln2474His)
c.7320A>C (p.Gln2440His)
c.6951A>C (p.Gln2317His)
 ClinVar dbSNP
5g.112843394A>GCA446211245APCc.7854A>G (p.Gln2618=)
c.*7806A>G (n.*7806A>G)
c.7746A>G (p.Gln2582=)
c.7800A>G (p.Gln2600=)
c.231-13255A>G
c.7830A>G (p.Gln2610=)
c.7725A>G (p.Gln2575=)
c.7716A>G (p.Gln2572=)
c.7677A>G (p.Gln2559=)
c.7623A>G (p.Gln2541=)
c.7527A>G (p.Gln2509=)
c.7497A>G (p.Gln2499=)
c.7422A>G (p.Gln2474=)
c.7320A>G (p.Gln2440=)
c.6951A>G (p.Gln2317=)
 dbSNP
5g.112843394A>TCA16038273APCc.7854A>T (p.Gln2618His)
c.*7806A>T (n.*7806A>T)
c.7746A>T (p.Gln2582His)
c.7800A>T (p.Gln2600His)
c.231-13255A>T
c.7830A>T (p.Gln2610His)
c.7725A>T (p.Gln2575His)
c.7716A>T (p.Gln2572His)
c.7677A>T (p.Gln2559His)
c.7623A>T (p.Gln2541His)
c.7527A>T (p.Gln2509His)
c.7497A>T (p.Gln2499His)
c.7422A>T (p.Gln2474His)
c.7320A>T (p.Gln2440His)
c.6951A>T (p.Gln2317His)
 dbSNP
5g.112843395A>CCA16038274APCc.7855A>C (p.Ser2619Arg)
c.*7807A>C (n.*7807A>C)
c.7747A>C (p.Ser2583Arg)
c.7801A>C (p.Ser2601Arg)
c.231-13254A>C
c.7831A>C (p.Ser2611Arg)
c.7726A>C (p.Ser2576Arg)
c.7717A>C (p.Ser2573Arg)
c.7678A>C (p.Ser2560Arg)
c.7624A>C (p.Ser2542Arg)
c.7528A>C (p.Ser2510Arg)
c.7498A>C (p.Ser2500Arg)
c.7423A>C (p.Ser2475Arg)
c.7321A>C (p.Ser2441Arg)
c.6952A>C (p.Ser2318Arg)
 ClinVar dbSNP
5g.112843395A>GCA16038275APCc.7855A>G (p.Ser2619Gly)
c.*7807A>G (n.*7807A>G)
c.7747A>G (p.Ser2583Gly)
c.7801A>G (p.Ser2601Gly)
c.231-13254A>G
c.7831A>G (p.Ser2611Gly)
c.7726A>G (p.Ser2576Gly)
c.7717A>G (p.Ser2573Gly)
c.7678A>G (p.Ser2560Gly)
c.7624A>G (p.Ser2542Gly)
c.7528A>G (p.Ser2510Gly)
c.7498A>G (p.Ser2500Gly)
c.7423A>G (p.Ser2475Gly)
c.7321A>G (p.Ser2441Gly)
c.6952A>G (p.Ser2318Gly)
5g.112843395A>TCA16038276APCc.7855A>T (p.Ser2619Cys)
c.*7807A>T (n.*7807A>T)
c.7747A>T (p.Ser2583Cys)
c.7801A>T (p.Ser2601Cys)
c.231-13254A>T
c.7831A>T (p.Ser2611Cys)
c.7726A>T (p.Ser2576Cys)
c.7717A>T (p.Ser2573Cys)
c.7678A>T (p.Ser2560Cys)
c.7624A>T (p.Ser2542Cys)
c.7528A>T (p.Ser2510Cys)
c.7498A>T (p.Ser2500Cys)
c.7423A>T (p.Ser2475Cys)
c.7321A>T (p.Ser2441Cys)
c.6952A>T (p.Ser2318Cys)
 dbSNP
5g.112843396G>ACA16038277APCc.7856G>A (p.Ser2619Asn)
c.*7808G>A (n.*7808G>A)
c.7748G>A (p.Ser2583Asn)
c.7802G>A (p.Ser2601Asn)
c.231-13253G>A
c.7832G>A (p.Ser2611Asn)
c.7727G>A (p.Ser2576Asn)
c.7718G>A (p.Ser2573Asn)
c.7679G>A (p.Ser2560Asn)
c.7625G>A (p.Ser2542Asn)
c.7529G>A (p.Ser2510Asn)
c.7499G>A (p.Ser2500Asn)
c.7424G>A (p.Ser2475Asn)
c.7322G>A (p.Ser2441Asn)
c.6953G>A (p.Ser2318Asn)
 ClinVar dbSNP gnomAD v4
5g.112843396G>CCA16038278APCc.7856G>C (p.Ser2619Thr)
c.*7808G>C (n.*7808G>C)
c.7748G>C (p.Ser2583Thr)
c.7802G>C (p.Ser2601Thr)
c.231-13253G>C
c.7832G>C (p.Ser2611Thr)
c.7727G>C (p.Ser2576Thr)
c.7718G>C (p.Ser2573Thr)
c.7679G>C (p.Ser2560Thr)
c.7625G>C (p.Ser2542Thr)
c.7529G>C (p.Ser2510Thr)
c.7499G>C (p.Ser2500Thr)
c.7424G>C (p.Ser2475Thr)
c.7322G>C (p.Ser2441Thr)
c.6953G>C (p.Ser2318Thr)
 ClinVar dbSNP
5g.112843396G=CA1573473802APCc.7856G= (p.Ser2619=)
c.*7808G= (n.*7808G=)
c.7748G= (p.Ser2583=)
c.7802G= (p.Ser2601=)
c.231-13253G=
c.7832G= (p.Ser2611=)
c.7727G= (p.Ser2576=)
c.7718G= (p.Ser2573=)
c.7679G= (p.Ser2560=)
c.7625G= (p.Ser2542=)
c.7529G= (p.Ser2510=)
c.7499G= (p.Ser2500=)
c.7424G= (p.Ser2475=)
c.7322G= (p.Ser2441=)
c.6953G= (p.Ser2318=)
5g.112843396G>TCA16038279APCc.7856G>T (p.Ser2619Ile)
c.*7808G>T (n.*7808G>T)
c.7748G>T (p.Ser2583Ile)
c.7802G>T (p.Ser2601Ile)
c.231-13253G>T
c.7832G>T (p.Ser2611Ile)
c.7727G>T (p.Ser2576Ile)
c.7718G>T (p.Ser2573Ile)
c.7679G>T (p.Ser2560Ile)
c.7625G>T (p.Ser2542Ile)
c.7529G>T (p.Ser2510Ile)
c.7499G>T (p.Ser2500Ile)
c.7424G>T (p.Ser2475Ile)
c.7322G>T (p.Ser2441Ile)
c.6953G>T (p.Ser2318Ile)
 dbSNP
5g.112843397T>ACA16038280APCc.7857T>A (p.Ser2619Arg)
c.*7809T>A (n.*7809T>A)
c.7749T>A (p.Ser2583Arg)
c.7803T>A (p.Ser2601Arg)
c.231-13252T>A
c.7833T>A (p.Ser2611Arg)
c.7728T>A (p.Ser2576Arg)
c.7719T>A (p.Ser2573Arg)
c.7680T>A (p.Ser2560Arg)
c.7626T>A (p.Ser2542Arg)
c.7530T>A (p.Ser2510Arg)
c.7500T>A (p.Ser2500Arg)
c.7425T>A (p.Ser2475Arg)
c.7323T>A (p.Ser2441Arg)
c.6954T>A (p.Ser2318Arg)
5g.112843397T>CCA446211248APCc.7857T>C (p.Ser2619=)
c.*7809T>C (n.*7809T>C)
c.7749T>C (p.Ser2583=)
c.7803T>C (p.Ser2601=)
c.231-13252T>C
c.7833T>C (p.Ser2611=)
c.7728T>C (p.Ser2576=)
c.7719T>C (p.Ser2573=)
c.7680T>C (p.Ser2560=)
c.7626T>C (p.Ser2542=)
c.7530T>C (p.Ser2510=)
c.7500T>C (p.Ser2500=)
c.7425T>C (p.Ser2475=)
c.7323T>C (p.Ser2441=)
c.6954T>C (p.Ser2318=)
 ClinVar
5g.112843397T>GCA16038281APCc.7857T>G (p.Ser2619Arg)
c.*7809T>G (n.*7809T>G)
c.7749T>G (p.Ser2583Arg)
c.7803T>G (p.Ser2601Arg)
c.231-13252T>G
c.7833T>G (p.Ser2611Arg)
c.7728T>G (p.Ser2576Arg)
c.7719T>G (p.Ser2573Arg)
c.7680T>G (p.Ser2560Arg)
c.7626T>G (p.Ser2542Arg)
c.7530T>G (p.Ser2510Arg)
c.7500T>G (p.Ser2500Arg)
c.7425T>G (p.Ser2475Arg)
c.7323T>G (p.Ser2441Arg)
c.6954T>G (p.Ser2318Arg)
 ClinVar dbSNP
5g.112843398A=CA1573473816APCc.7858A= (p.Lys2620=)
c.*7810A= (n.*7810A=)
c.7750A= (p.Lys2584=)
c.7804A= (p.Lys2602=)
c.231-13251A=
c.7834A= (p.Lys2612=)
c.7729A= (p.Lys2577=)
c.7720A= (p.Lys2574=)
c.7681A= (p.Lys2561=)
c.7627A= (p.Lys2543=)
c.7531A= (p.Lys2511=)
c.7501A= (p.Lys2501=)
c.7426A= (p.Lys2476=)
c.7324A= (p.Lys2442=)
c.6955A= (p.Lys2319=)
5g.112843398A>CCA16038282APCc.7858A>C (p.Lys2620Gln)
c.*7810A>C (n.*7810A>C)
c.7750A>C (p.Lys2584Gln)
c.7804A>C (p.Lys2602Gln)
c.231-13251A>C
c.7834A>C (p.Lys2612Gln)
c.7729A>C (p.Lys2577Gln)
c.7720A>C (p.Lys2574Gln)
c.7681A>C (p.Lys2561Gln)
c.7627A>C (p.Lys2543Gln)
c.7531A>C (p.Lys2511Gln)
c.7501A>C (p.Lys2501Gln)
c.7426A>C (p.Lys2476Gln)
c.7324A>C (p.Lys2442Gln)
c.6955A>C (p.Lys2319Gln)
5g.112843398A>GCA16038283APCc.7858A>G (p.Lys2620Glu)
c.*7810A>G (n.*7810A>G)
c.7750A>G (p.Lys2584Glu)
c.7804A>G (p.Lys2602Glu)
c.231-13251A>G
c.7834A>G (p.Lys2612Glu)
c.7729A>G (p.Lys2577Glu)
c.7720A>G (p.Lys2574Glu)
c.7681A>G (p.Lys2561Glu)
c.7627A>G (p.Lys2543Glu)
c.7531A>G (p.Lys2511Glu)
c.7501A>G (p.Lys2501Glu)
c.7426A>G (p.Lys2476Glu)
c.7324A>G (p.Lys2442Glu)
c.6955A>G (p.Lys2319Glu)
 dbSNP gnomAD v4
5g.112843398A>TCA16038284APCc.7858A>T (p.Lys2620Ter)
c.*7810A>T (n.*7810A>T)
c.7750A>T (p.Lys2584Ter)
c.7804A>T (p.Lys2602Ter)
c.231-13251A>T
c.7834A>T (p.Lys2612Ter)
c.7729A>T (p.Lys2577Ter)
c.7720A>T (p.Lys2574Ter)
c.7681A>T (p.Lys2561Ter)
c.7627A>T (p.Lys2543Ter)
c.7531A>T (p.Lys2511Ter)
c.7501A>T (p.Lys2501Ter)
c.7426A>T (p.Lys2476Ter)
c.7324A>T (p.Lys2442Ter)
c.6955A>T (p.Lys2319Ter)
 dbSNP
5g.112843401_112843404delCA2697546409APCc.7861_7864del (p.Glu2621ThrfsTer12)
c.*7813_*7816del (n.*7813_*7816del)
c.7753_7756del (p.Glu2585ThrfsTer12)
c.7807_7810del (p.Glu2603ThrfsTer12)
c.231-13248_231-13245del
c.7837_7840del (p.Glu2613ThrfsTer12)
c.7732_7735del (p.Glu2578ThrfsTer12)
c.7723_7726del (p.Glu2575ThrfsTer12)
c.7684_7687del (p.Glu2562ThrfsTer12)
c.7630_7633del (p.Glu2544ThrfsTer12)
c.7534_7537del (p.Glu2512ThrfsTer12)
c.7504_7507del (p.Glu2502ThrfsTer12)
c.7429_7432del (p.Glu2477ThrfsTer12)
c.7327_7330del (p.Glu2443ThrfsTer12)
c.6958_6961del (p.Glu2320ThrfsTer12)
 ClinVar
5g.112843399A>CCA16038285APCc.7859A>C (p.Lys2620Thr)
c.*7811A>C (n.*7811A>C)
c.7751A>C (p.Lys2584Thr)
c.7805A>C (p.Lys2602Thr)
c.231-13250A>C
c.7835A>C (p.Lys2612Thr)
c.7730A>C (p.Lys2577Thr)
c.7721A>C (p.Lys2574Thr)
c.7682A>C (p.Lys2561Thr)
c.7628A>C (p.Lys2543Thr)
c.7532A>C (p.Lys2511Thr)
c.7502A>C (p.Lys2501Thr)
c.7427A>C (p.Lys2476Thr)
c.7325A>C (p.Lys2442Thr)
c.6956A>C (p.Lys2319Thr)
5g.112843399A>GCA16038286APCc.7859A>G (p.Lys2620Arg)
c.*7811A>G (n.*7811A>G)
c.7751A>G (p.Lys2584Arg)
c.7805A>G (p.Lys2602Arg)
c.231-13250A>G
c.7835A>G (p.Lys2612Arg)
c.7730A>G (p.Lys2577Arg)
c.7721A>G (p.Lys2574Arg)
c.7682A>G (p.Lys2561Arg)
c.7628A>G (p.Lys2543Arg)
c.7532A>G (p.Lys2511Arg)
c.7502A>G (p.Lys2501Arg)
c.7427A>G (p.Lys2476Arg)
c.7325A>G (p.Lys2442Arg)
c.6956A>G (p.Lys2319Arg)
 ClinVar dbSNP
5g.112843399A>TCA16038287APCc.7859A>T (p.Lys2620Ile)
c.*7811A>T (n.*7811A>T)
c.7751A>T (p.Lys2584Ile)
c.7805A>T (p.Lys2602Ile)
c.231-13250A>T
c.7835A>T (p.Lys2612Ile)
c.7730A>T (p.Lys2577Ile)
c.7721A>T (p.Lys2574Ile)
c.7682A>T (p.Lys2561Ile)
c.7628A>T (p.Lys2543Ile)
c.7532A>T (p.Lys2511Ile)
c.7502A>T (p.Lys2501Ile)
c.7427A>T (p.Lys2476Ile)
c.7325A>T (p.Lys2442Ile)
c.6956A>T (p.Lys2319Ile)
 dbSNP
5g.112843400A=CA1573473817APCc.7860A= (p.Lys2620=)
c.*7812A= (n.*7812A=)
c.7752A= (p.Lys2584=)
c.7806A= (p.Lys2602=)
c.231-13249A=
c.7836A= (p.Lys2612=)
c.7731A= (p.Lys2577=)
c.7722A= (p.Lys2574=)
c.7683A= (p.Lys2561=)
c.7629A= (p.Lys2543=)
c.7533A= (p.Lys2511=)
c.7503A= (p.Lys2501=)
c.7428A= (p.Lys2476=)
c.7326A= (p.Lys2442=)
c.6957A= (p.Lys2319=)
5g.112843400A>CCA16038288APCc.7860A>C (p.Lys2620Asn)
c.*7812A>C (n.*7812A>C)
c.7752A>C (p.Lys2584Asn)
c.7806A>C (p.Lys2602Asn)
c.231-13249A>C
c.7836A>C (p.Lys2612Asn)
c.7731A>C (p.Lys2577Asn)
c.7722A>C (p.Lys2574Asn)
c.7683A>C (p.Lys2561Asn)
c.7629A>C (p.Lys2543Asn)
c.7533A>C (p.Lys2511Asn)
c.7503A>C (p.Lys2501Asn)
c.7428A>C (p.Lys2476Asn)
c.7326A>C (p.Lys2442Asn)
c.6957A>C (p.Lys2319Asn)
 gnomAD v4
5g.112843400A>GCA446211251APCc.7860A>G (p.Lys2620=)
c.*7812A>G (n.*7812A>G)
c.7752A>G (p.Lys2584=)
c.7806A>G (p.Lys2602=)
c.231-13249A>G
c.7836A>G (p.Lys2612=)
c.7731A>G (p.Lys2577=)
c.7722A>G (p.Lys2574=)
c.7683A>G (p.Lys2561=)
c.7629A>G (p.Lys2543=)
c.7533A>G (p.Lys2511=)
c.7503A>G (p.Lys2501=)
c.7428A>G (p.Lys2476=)
c.7326A>G (p.Lys2442=)
c.6957A>G (p.Lys2319=)
 ClinVar dbSNP gnomAD v4
5g.112843400A>TCA16038289APCc.7860A>T (p.Lys2620Asn)
c.*7812A>T (n.*7812A>T)
c.7752A>T (p.Lys2584Asn)
c.7806A>T (p.Lys2602Asn)
c.231-13249A>T
c.7836A>T (p.Lys2612Asn)
c.7731A>T (p.Lys2577Asn)
c.7722A>T (p.Lys2574Asn)
c.7683A>T (p.Lys2561Asn)
c.7629A>T (p.Lys2543Asn)
c.7533A>T (p.Lys2511Asn)
c.7503A>T (p.Lys2501Asn)
c.7428A>T (p.Lys2476Asn)
c.7326A>T (p.Lys2442Asn)
c.6957A>T (p.Lys2319Asn)
 dbSNP
5g.112843401G>ACA16038290APCc.7861G>A (p.Glu2621Lys)
c.*7813G>A (n.*7813G>A)
c.7753G>A (p.Glu2585Lys)
c.7807G>A (p.Glu2603Lys)
c.231-13248G>A
c.7837G>A (p.Glu2613Lys)
c.7732G>A (p.Glu2578Lys)
c.7723G>A (p.Glu2575Lys)
c.7684G>A (p.Glu2562Lys)
c.7630G>A (p.Glu2544Lys)
c.7534G>A (p.Glu2512Lys)
c.7504G>A (p.Glu2502Lys)
c.7429G>A (p.Glu2477Lys)
c.7327G>A (p.Glu2443Lys)
c.6958G>A (p.Glu2320Lys)
 dbSNP
5g.112843401G>CCA16038291APCc.7861G>C (p.Glu2621Gln)
c.*7813G>C (n.*7813G>C)
c.7753G>C (p.Glu2585Gln)
c.7807G>C (p.Glu2603Gln)
c.231-13248G>C
c.7837G>C (p.Glu2613Gln)
c.7732G>C (p.Glu2578Gln)
c.7723G>C (p.Glu2575Gln)
c.7684G>C (p.Glu2562Gln)
c.7630G>C (p.Glu2544Gln)
c.7534G>C (p.Glu2512Gln)
c.7504G>C (p.Glu2502Gln)
c.7429G>C (p.Glu2477Gln)
c.7327G>C (p.Glu2443Gln)
c.6958G>C (p.Glu2320Gln)
 ClinVar
5g.112843401G>TCA16038292APCc.7861G>T (p.Glu2621Ter)
c.*7813G>T (n.*7813G>T)
c.7753G>T (p.Glu2585Ter)
c.7807G>T (p.Glu2603Ter)
c.231-13248G>T
c.7837G>T (p.Glu2613Ter)
c.7732G>T (p.Glu2578Ter)
c.7723G>T (p.Glu2575Ter)
c.7684G>T (p.Glu2562Ter)
c.7630G>T (p.Glu2544Ter)
c.7534G>T (p.Glu2512Ter)
c.7504G>T (p.Glu2502Ter)
c.7429G>T (p.Glu2477Ter)
c.7327G>T (p.Glu2443Ter)
c.6958G>T (p.Glu2320Ter)
 dbSNP
5g.112843402A=CA1573473822APCc.7862A= (p.Glu2621=)
c.*7814A= (n.*7814A=)
c.7754A= (p.Glu2585=)
c.7808A= (p.Glu2603=)
c.231-13247A=
c.7838A= (p.Glu2613=)
c.7733A= (p.Glu2578=)
c.7724A= (p.Glu2575=)
c.7685A= (p.Glu2562=)
c.7631A= (p.Glu2544=)
c.7535A= (p.Glu2512=)
c.7505A= (p.Glu2502=)
c.7430A= (p.Glu2477=)
c.7328A= (p.Glu2443=)
c.6959A= (p.Glu2320=)
5g.112843402A>CCA16038293APCc.7862A>C (p.Glu2621Ala)
c.*7814A>C (n.*7814A>C)
c.7754A>C (p.Glu2585Ala)
c.7808A>C (p.Glu2603Ala)
c.231-13247A>C
c.7838A>C (p.Glu2613Ala)
c.7733A>C (p.Glu2578Ala)
c.7724A>C (p.Glu2575Ala)
c.7685A>C (p.Glu2562Ala)
c.7631A>C (p.Glu2544Ala)
c.7535A>C (p.Glu2512Ala)
c.7505A>C (p.Glu2502Ala)
c.7430A>C (p.Glu2477Ala)
c.7328A>C (p.Glu2443Ala)
c.6959A>C (p.Glu2320Ala)
 dbSNP
5g.112843402A>GCA014080APCc.7862A>G (p.Glu2621Gly)
c.*7814A>G (n.*7814A>G)
c.7754A>G (p.Glu2585Gly)
c.7808A>G (p.Glu2603Gly)
c.231-13247A>G
c.7838A>G (p.Glu2613Gly)
c.7733A>G (p.Glu2578Gly)
c.7724A>G (p.Glu2575Gly)
c.7685A>G (p.Glu2562Gly)
c.7631A>G (p.Glu2544Gly)
c.7535A>G (p.Glu2512Gly)
c.7505A>G (p.Glu2502Gly)
c.7430A>G (p.Glu2477Gly)
c.7328A>G (p.Glu2443Gly)
c.6959A>G (p.Glu2320Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112843402A>TCA16038294APCc.7862A>T (p.Glu2621Val)
c.*7814A>T (n.*7814A>T)
c.7754A>T (p.Glu2585Val)
c.7808A>T (p.Glu2603Val)
c.231-13247A>T
c.7838A>T (p.Glu2613Val)
c.7733A>T (p.Glu2578Val)
c.7724A>T (p.Glu2575Val)
c.7685A>T (p.Glu2562Val)
c.7631A>T (p.Glu2544Val)
c.7535A>T (p.Glu2512Val)
c.7505A>T (p.Glu2502Val)
c.7430A>T (p.Glu2477Val)
c.7328A>T (p.Glu2443Val)
c.6959A>T (p.Glu2320Val)
 dbSNP
5g.112843403A=CA1573473832APCc.7863A= (p.Glu2621=)
c.*7815A= (n.*7815A=)
c.7755A= (p.Glu2585=)
c.7809A= (p.Glu2603=)
c.231-13246A=
c.7839A= (p.Glu2613=)
c.7734A= (p.Glu2578=)
c.7725A= (p.Glu2575=)
c.7686A= (p.Glu2562=)
c.7632A= (p.Glu2544=)
c.7536A= (p.Glu2512=)
c.7506A= (p.Glu2502=)
c.7431A= (p.Glu2477=)
c.7329A= (p.Glu2443=)
c.6960A= (p.Glu2320=)
5g.112843403A>CCA16038295APCc.7863A>C (p.Glu2621Asp)
c.*7815A>C (n.*7815A>C)
c.7755A>C (p.Glu2585Asp)
c.7809A>C (p.Glu2603Asp)
c.231-13246A>C
c.7839A>C (p.Glu2613Asp)
c.7734A>C (p.Glu2578Asp)
c.7725A>C (p.Glu2575Asp)
c.7686A>C (p.Glu2562Asp)
c.7632A>C (p.Glu2544Asp)
c.7536A>C (p.Glu2512Asp)
c.7506A>C (p.Glu2502Asp)
c.7431A>C (p.Glu2477Asp)
c.7329A>C (p.Glu2443Asp)
c.6960A>C (p.Glu2320Asp)
 ClinVar dbSNP
5g.112843403A>GCA446211254APCc.7863A>G (p.Glu2621=)
c.*7815A>G (n.*7815A>G)
c.7755A>G (p.Glu2585=)
c.7809A>G (p.Glu2603=)
c.231-13246A>G
c.7839A>G (p.Glu2613=)
c.7734A>G (p.Glu2578=)
c.7725A>G (p.Glu2575=)
c.7686A>G (p.Glu2562=)
c.7632A>G (p.Glu2544=)
c.7536A>G (p.Glu2512=)
c.7506A>G (p.Glu2502=)
c.7431A>G (p.Glu2477=)
c.7329A>G (p.Glu2443=)
c.6960A>G (p.Glu2320=)
 dbSNP
5g.112843403A>TCA16038296APCc.7863A>T (p.Glu2621Asp)
c.*7815A>T (n.*7815A>T)
c.7755A>T (p.Glu2585Asp)
c.7809A>T (p.Glu2603Asp)
c.231-13246A>T
c.7839A>T (p.Glu2613Asp)
c.7734A>T (p.Glu2578Asp)
c.7725A>T (p.Glu2575Asp)
c.7686A>T (p.Glu2562Asp)
c.7632A>T (p.Glu2544Asp)
c.7536A>T (p.Glu2512Asp)
c.7506A>T (p.Glu2502Asp)
c.7431A>T (p.Glu2477Asp)
c.7329A>T (p.Glu2443Asp)
c.6960A>T (p.Glu2320Asp)
5g.112843404A>CCA16038297APCc.7864A>C (p.Asn2622His)
c.*7816A>C (n.*7816A>C)
c.7756A>C (p.Asn2586His)
c.7810A>C (p.Asn2604His)
c.231-13245A>C
c.7840A>C (p.Asn2614His)
c.7735A>C (p.Asn2579His)
c.7726A>C (p.Asn2576His)
c.7687A>C (p.Asn2563His)
c.7633A>C (p.Asn2545His)
c.7537A>C (p.Asn2513His)
c.7507A>C (p.Asn2503His)
c.7432A>C (p.Asn2478His)
c.7330A>C (p.Asn2444His)
c.6961A>C (p.Asn2321His)
5g.112843404A>GCA16038298APCc.7864A>G (p.Asn2622Asp)
c.*7816A>G (n.*7816A>G)
c.7756A>G (p.Asn2586Asp)
c.7810A>G (p.Asn2604Asp)
c.231-13245A>G
c.7840A>G (p.Asn2614Asp)
c.7735A>G (p.Asn2579Asp)
c.7726A>G (p.Asn2576Asp)
c.7687A>G (p.Asn2563Asp)
c.7633A>G (p.Asn2545Asp)
c.7537A>G (p.Asn2513Asp)
c.7507A>G (p.Asn2503Asp)
c.7432A>G (p.Asn2478Asp)
c.7330A>G (p.Asn2444Asp)
c.6961A>G (p.Asn2321Asp)
 dbSNP
5g.112843404A>TCA16038299APCc.7864A>T (p.Asn2622Tyr)
c.*7816A>T (n.*7816A>T)
c.7756A>T (p.Asn2586Tyr)
c.7810A>T (p.Asn2604Tyr)
c.231-13245A>T
c.7840A>T (p.Asn2614Tyr)
c.7735A>T (p.Asn2579Tyr)
c.7726A>T (p.Asn2576Tyr)
c.7687A>T (p.Asn2563Tyr)
c.7633A>T (p.Asn2545Tyr)
c.7537A>T (p.Asn2513Tyr)
c.7507A>T (p.Asn2503Tyr)
c.7432A>T (p.Asn2478Tyr)
c.7330A>T (p.Asn2444Tyr)
c.6961A>T (p.Asn2321Tyr)
5g.112843405A>CCA16038300APCc.7865A>C (p.Asn2622Thr)
c.*7817A>C (n.*7817A>C)
c.7757A>C (p.Asn2586Thr)
c.7811A>C (p.Asn2604Thr)
c.231-13244A>C
c.7841A>C (p.Asn2614Thr)
c.7736A>C (p.Asn2579Thr)
c.7727A>C (p.Asn2576Thr)
c.7688A>C (p.Asn2563Thr)
c.7634A>C (p.Asn2545Thr)
c.7538A>C (p.Asn2513Thr)
c.7508A>C (p.Asn2503Thr)
c.7433A>C (p.Asn2478Thr)
c.7331A>C (p.Asn2444Thr)
c.6962A>C (p.Asn2321Thr)
5g.112843405A>GCA16038301APCc.7865A>G (p.Asn2622Ser)
c.*7817A>G (n.*7817A>G)
c.7757A>G (p.Asn2586Ser)
c.7811A>G (p.Asn2604Ser)
c.231-13244A>G
c.7841A>G (p.Asn2614Ser)
c.7736A>G (p.Asn2579Ser)
c.7727A>G (p.Asn2576Ser)
c.7688A>G (p.Asn2563Ser)
c.7634A>G (p.Asn2545Ser)
c.7538A>G (p.Asn2513Ser)
c.7508A>G (p.Asn2503Ser)
c.7433A>G (p.Asn2478Ser)
c.7331A>G (p.Asn2444Ser)
c.6962A>G (p.Asn2321Ser)
5g.112843405A>TCA16038302APCc.7865A>T (p.Asn2622Ile)
c.*7817A>T (n.*7817A>T)
c.7757A>T (p.Asn2586Ile)
c.7811A>T (p.Asn2604Ile)
c.231-13244A>T
c.7841A>T (p.Asn2614Ile)
c.7736A>T (p.Asn2579Ile)
c.7727A>T (p.Asn2576Ile)
c.7688A>T (p.Asn2563Ile)
c.7634A>T (p.Asn2545Ile)
c.7538A>T (p.Asn2513Ile)
c.7508A>T (p.Asn2503Ile)
c.7433A>T (p.Asn2478Ile)
c.7331A>T (p.Asn2444Ile)
c.6962A>T (p.Asn2321Ile)
5g.112843406C>ACA16038303APCc.7866C>A (p.Asn2622Lys)
c.*7818C>A (n.*7818C>A)
c.7758C>A (p.Asn2586Lys)
c.7812C>A (p.Asn2604Lys)
c.231-13243C>A
c.7842C>A (p.Asn2614Lys)
c.7737C>A (p.Asn2579Lys)
c.7728C>A (p.Asn2576Lys)
c.7689C>A (p.Asn2563Lys)
c.7635C>A (p.Asn2545Lys)
c.7539C>A (p.Asn2513Lys)
c.7509C>A (p.Asn2503Lys)
c.7434C>A (p.Asn2478Lys)
c.7332C>A (p.Asn2444Lys)
c.6963C>A (p.Asn2321Lys)
5g.112843406C=CA1573473837APCc.7866C= (p.Asn2622=)
c.*7818C= (n.*7818C=)
c.7758C= (p.Asn2586=)
c.7812C= (p.Asn2604=)
c.231-13243C=
c.7842C= (p.Asn2614=)
c.7737C= (p.Asn2579=)
c.7728C= (p.Asn2576=)
c.7689C= (p.Asn2563=)
c.7635C= (p.Asn2545=)
c.7539C= (p.Asn2513=)
c.7509C= (p.Asn2503=)
c.7434C= (p.Asn2478=)
c.7332C= (p.Asn2444=)
c.6963C= (p.Asn2321=)
5g.112843406C>GCA10578451APCc.7866C>G (p.Asn2622Lys)
c.*7818C>G (n.*7818C>G)
c.7758C>G (p.Asn2586Lys)
c.7812C>G (p.Asn2604Lys)
c.231-13243C>G
c.7842C>G (p.Asn2614Lys)
c.7737C>G (p.Asn2579Lys)
c.7728C>G (p.Asn2576Lys)
c.7689C>G (p.Asn2563Lys)
c.7635C>G (p.Asn2545Lys)
c.7539C>G (p.Asn2513Lys)
c.7509C>G (p.Asn2503Lys)
c.7434C>G (p.Asn2478Lys)
c.7332C>G (p.Asn2444Lys)
c.6963C>G (p.Asn2321Lys)
 ClinVar dbSNP
5g.112843406C>TCA446211255APCc.7866C>T (p.Asn2622=)
c.*7818C>T (n.*7818C>T)
c.7758C>T (p.Asn2586=)
c.7812C>T (p.Asn2604=)
c.231-13243C>T
c.7842C>T (p.Asn2614=)
c.7737C>T (p.Asn2579=)
c.7728C>T (p.Asn2576=)
c.7689C>T (p.Asn2563=)
c.7635C>T (p.Asn2545=)
c.7539C>T (p.Asn2513=)
c.7509C>T (p.Asn2503=)
c.7434C>T (p.Asn2478=)
c.7332C>T (p.Asn2444=)
c.6963C>T (p.Asn2321=)
 ClinVar dbSNP
5g.112843407C>ACA16038304APCc.7867C>A (p.Gln2623Lys)
c.*7819C>A (n.*7819C>A)
c.7759C>A (p.Gln2587Lys)
c.7813C>A (p.Gln2605Lys)
c.231-13242C>A
c.7843C>A (p.Gln2615Lys)
c.7738C>A (p.Gln2580Lys)
c.7729C>A (p.Gln2577Lys)
c.7690C>A (p.Gln2564Lys)
c.7636C>A (p.Gln2546Lys)
c.7540C>A (p.Gln2514Lys)
c.7510C>A (p.Gln2504Lys)
c.7435C>A (p.Gln2479Lys)
c.7333C>A (p.Gln2445Lys)
c.6964C>A (p.Gln2322Lys)
 ClinVar dbSNP
5g.112843407C=CA1573473847APCc.7867C= (p.Gln2623=)
c.*7819C= (n.*7819C=)
c.7759C= (p.Gln2587=)
c.7813C= (p.Gln2605=)
c.231-13242C=
c.7843C= (p.Gln2615=)
c.7738C= (p.Gln2580=)
c.7729C= (p.Gln2577=)
c.7690C= (p.Gln2564=)
c.7636C= (p.Gln2546=)
c.7540C= (p.Gln2514=)
c.7510C= (p.Gln2504=)
c.7435C= (p.Gln2479=)
c.7333C= (p.Gln2445=)
c.6964C= (p.Gln2322=)
5g.112843407C>GCA16038305APCc.7867C>G (p.Gln2623Glu)
c.*7819C>G (n.*7819C>G)
c.7759C>G (p.Gln2587Glu)
c.7813C>G (p.Gln2605Glu)
c.231-13242C>G
c.7843C>G (p.Gln2615Glu)
c.7738C>G (p.Gln2580Glu)
c.7729C>G (p.Gln2577Glu)
c.7690C>G (p.Gln2564Glu)
c.7636C>G (p.Gln2546Glu)
c.7540C>G (p.Gln2514Glu)
c.7510C>G (p.Gln2504Glu)
c.7435C>G (p.Gln2479Glu)
c.7333C>G (p.Gln2445Glu)
c.6964C>G (p.Gln2322Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112843407C>TCA16038306APCc.7867C>T (p.Gln2623Ter)
c.*7819C>T (n.*7819C>T)
c.7759C>T (p.Gln2587Ter)
c.7813C>T (p.Gln2605Ter)
c.231-13242C>T
c.7843C>T (p.Gln2615Ter)
c.7738C>T (p.Gln2580Ter)
c.7729C>T (p.Gln2577Ter)
c.7690C>T (p.Gln2564Ter)
c.7636C>T (p.Gln2546Ter)
c.7540C>T (p.Gln2514Ter)
c.7510C>T (p.Gln2504Ter)
c.7435C>T (p.Gln2479Ter)
c.7333C>T (p.Gln2445Ter)
c.6964C>T (p.Gln2322Ter)
 dbSNP
5g.112843408A>CCA16038307APCc.7868A>C (p.Gln2623Pro)
c.*7820A>C (n.*7820A>C)
c.7760A>C (p.Gln2587Pro)
c.7814A>C (p.Gln2605Pro)
c.231-13241A>C
c.7844A>C (p.Gln2615Pro)
c.7739A>C (p.Gln2580Pro)
c.7730A>C (p.Gln2577Pro)
c.7691A>C (p.Gln2564Pro)
c.7637A>C (p.Gln2546Pro)
c.7541A>C (p.Gln2514Pro)
c.7511A>C (p.Gln2504Pro)
c.7436A>C (p.Gln2479Pro)
c.7334A>C (p.Gln2445Pro)
c.6965A>C (p.Gln2322Pro)
5g.112843408A>GCA16038308APCc.7868A>G (p.Gln2623Arg)
c.*7820A>G (n.*7820A>G)
c.7760A>G (p.Gln2587Arg)
c.7814A>G (p.Gln2605Arg)
c.231-13241A>G
c.7844A>G (p.Gln2615Arg)
c.7739A>G (p.Gln2580Arg)
c.7730A>G (p.Gln2577Arg)
c.7691A>G (p.Gln2564Arg)
c.7637A>G (p.Gln2546Arg)
c.7541A>G (p.Gln2514Arg)
c.7511A>G (p.Gln2504Arg)
c.7436A>G (p.Gln2479Arg)
c.7334A>G (p.Gln2445Arg)
c.6965A>G (p.Gln2322Arg)
 dbSNP
5g.112843408A>TCA16038309APCc.7868A>T (p.Gln2623Leu)
c.*7820A>T (n.*7820A>T)
c.7760A>T (p.Gln2587Leu)
c.7814A>T (p.Gln2605Leu)
c.231-13241A>T
c.7844A>T (p.Gln2615Leu)
c.7739A>T (p.Gln2580Leu)
c.7730A>T (p.Gln2577Leu)
c.7691A>T (p.Gln2564Leu)
c.7637A>T (p.Gln2546Leu)
c.7541A>T (p.Gln2514Leu)
c.7511A>T (p.Gln2504Leu)
c.7436A>T (p.Gln2479Leu)
c.7334A>T (p.Gln2445Leu)
c.6965A>T (p.Gln2322Leu)
 dbSNP
5g.112843409A=CA1573473858APCc.7869A= (p.Gln2623=)
c.*7821A= (n.*7821A=)
c.7761A= (p.Gln2587=)
c.7815A= (p.Gln2605=)
c.231-13240A=
c.7845A= (p.Gln2615=)
c.7740A= (p.Gln2580=)
c.7731A= (p.Gln2577=)
c.7692A= (p.Gln2564=)
c.7638A= (p.Gln2546=)
c.7542A= (p.Gln2514=)
c.7512A= (p.Gln2504=)
c.7437A= (p.Gln2479=)
c.7335A= (p.Gln2445=)
c.6966A= (p.Gln2322=)
5g.112843409A>CCA16038310APCc.7869A>C (p.Gln2623His)
c.*7821A>C (n.*7821A>C)
c.7761A>C (p.Gln2587His)
c.7815A>C (p.Gln2605His)
c.231-13240A>C
c.7845A>C (p.Gln2615His)
c.7740A>C (p.Gln2580His)
c.7731A>C (p.Gln2577His)
c.7692A>C (p.Gln2564His)
c.7638A>C (p.Gln2546His)
c.7542A>C (p.Gln2514His)
c.7512A>C (p.Gln2504His)
c.7437A>C (p.Gln2479His)
c.7335A>C (p.Gln2445His)
c.6966A>C (p.Gln2322His)
 ClinVar dbSNP gnomAD v4
5g.112843409A>GCA446211257APCc.7869A>G (p.Gln2623=)
c.*7821A>G (n.*7821A>G)
c.7761A>G (p.Gln2587=)
c.7815A>G (p.Gln2605=)
c.231-13240A>G
c.7845A>G (p.Gln2615=)
c.7740A>G (p.Gln2580=)
c.7731A>G (p.Gln2577=)
c.7692A>G (p.Gln2564=)
c.7638A>G (p.Gln2546=)
c.7542A>G (p.Gln2514=)
c.7512A>G (p.Gln2504=)
c.7437A>G (p.Gln2479=)
c.7335A>G (p.Gln2445=)
c.6966A>G (p.Gln2322=)
 dbSNP
5g.112843409A>TCA16038311APCc.7869A>T (p.Gln2623His)
c.*7821A>T (n.*7821A>T)
c.7761A>T (p.Gln2587His)
c.7815A>T (p.Gln2605His)
c.231-13240A>T
c.7845A>T (p.Gln2615His)
c.7740A>T (p.Gln2580His)
c.7731A>T (p.Gln2577His)
c.7692A>T (p.Gln2564His)
c.7638A>T (p.Gln2546His)
c.7542A>T (p.Gln2514His)
c.7512A>T (p.Gln2504His)
c.7437A>T (p.Gln2479His)
c.7335A>T (p.Gln2445His)
c.6966A>T (p.Gln2322His)
 dbSNP
5g.112843410G>ACA16038312APCc.7870G>A (p.Val2624Ile)
c.*7822G>A (n.*7822G>A)
c.7762G>A (p.Val2588Ile)
c.7816G>A (p.Val2606Ile)
c.231-13239G>A
c.7846G>A (p.Val2616Ile)
c.7741G>A (p.Val2581Ile)
c.7732G>A (p.Val2578Ile)
c.7693G>A (p.Val2565Ile)
c.7639G>A (p.Val2547Ile)
c.7543G>A (p.Val2515Ile)
c.7513G>A (p.Val2505Ile)
c.7438G>A (p.Val2480Ile)
c.7336G>A (p.Val2446Ile)
c.6967G>A (p.Val2323Ile)
 ClinVar dbSNP
5g.112843410G>CCA16038313APCc.7870G>C (p.Val2624Leu)
c.*7822G>C (n.*7822G>C)
c.7762G>C (p.Val2588Leu)
c.7816G>C (p.Val2606Leu)
c.231-13239G>C
c.7846G>C (p.Val2616Leu)
c.7741G>C (p.Val2581Leu)
c.7732G>C (p.Val2578Leu)
c.7693G>C (p.Val2565Leu)
c.7639G>C (p.Val2547Leu)
c.7543G>C (p.Val2515Leu)
c.7513G>C (p.Val2505Leu)
c.7438G>C (p.Val2480Leu)
c.7336G>C (p.Val2446Leu)
c.6967G>C (p.Val2323Leu)
 dbSNP
5g.112843410G=CA1573473864APCc.7870G= (p.Val2624=)
c.*7822G= (n.*7822G=)
c.7762G= (p.Val2588=)
c.7816G= (p.Val2606=)
c.231-13239G=
c.7846G= (p.Val2616=)
c.7741G= (p.Val2581=)
c.7732G= (p.Val2578=)
c.7693G= (p.Val2565=)
c.7639G= (p.Val2547=)
c.7543G= (p.Val2515=)
c.7513G= (p.Val2505=)
c.7438G= (p.Val2480=)
c.7336G= (p.Val2446=)
c.6967G= (p.Val2323=)
5g.112843410G>TCA16038314APCc.7870G>T (p.Val2624Leu)
c.*7822G>T (n.*7822G>T)
c.7762G>T (p.Val2588Leu)
c.7816G>T (p.Val2606Leu)
c.231-13239G>T
c.7846G>T (p.Val2616Leu)
c.7741G>T (p.Val2581Leu)
c.7732G>T (p.Val2578Leu)
c.7693G>T (p.Val2565Leu)
c.7639G>T (p.Val2547Leu)
c.7543G>T (p.Val2515Leu)
c.7513G>T (p.Val2505Leu)
c.7438G>T (p.Val2480Leu)
c.7336G>T (p.Val2446Leu)
c.6967G>T (p.Val2323Leu)
5g.112843411T>ACA16038315APCc.7871T>A (p.Val2624Glu)
c.*7823T>A (n.*7823T>A)
c.7763T>A (p.Val2588Glu)
c.7817T>A (p.Val2606Glu)
c.231-13238T>A
c.7847T>A (p.Val2616Glu)
c.7742T>A (p.Val2581Glu)
c.7733T>A (p.Val2578Glu)
c.7694T>A (p.Val2565Glu)
c.7640T>A (p.Val2547Glu)
c.7544T>A (p.Val2515Glu)
c.7514T>A (p.Val2505Glu)
c.7439T>A (p.Val2480Glu)
c.7337T>A (p.Val2446Glu)
c.6968T>A (p.Val2323Glu)
 ClinVar
5g.112843411T>CCA16038316APCc.7871T>C (p.Val2624Ala)
c.*7823T>C (n.*7823T>C)
c.7763T>C (p.Val2588Ala)
c.7817T>C (p.Val2606Ala)
c.231-13238T>C
c.7847T>C (p.Val2616Ala)
c.7742T>C (p.Val2581Ala)
c.7733T>C (p.Val2578Ala)
c.7694T>C (p.Val2565Ala)
c.7640T>C (p.Val2547Ala)
c.7544T>C (p.Val2515Ala)
c.7514T>C (p.Val2505Ala)
c.7439T>C (p.Val2480Ala)
c.7337T>C (p.Val2446Ala)
c.6968T>C (p.Val2323Ala)
 ClinVar dbSNP
5g.112843411T>GCA16038317APCc.7871T>G (p.Val2624Gly)
c.*7823T>G (n.*7823T>G)
c.7763T>G (p.Val2588Gly)
c.7817T>G (p.Val2606Gly)
c.231-13238T>G
c.7847T>G (p.Val2616Gly)
c.7742T>G (p.Val2581Gly)
c.7733T>G (p.Val2578Gly)
c.7694T>G (p.Val2565Gly)
c.7640T>G (p.Val2547Gly)
c.7544T>G (p.Val2515Gly)
c.7514T>G (p.Val2505Gly)
c.7439T>G (p.Val2480Gly)
c.7337T>G (p.Val2446Gly)
c.6968T>G (p.Val2323Gly)
 dbSNP
5g.112843411T=CA1573473873APCc.7871T= (p.Val2624=)
c.*7823T= (n.*7823T=)
c.7763T= (p.Val2588=)
c.7817T= (p.Val2606=)
c.231-13238T=
c.7847T= (p.Val2616=)
c.7742T= (p.Val2581=)
c.7733T= (p.Val2578=)
c.7694T= (p.Val2565=)
c.7640T= (p.Val2547=)
c.7544T= (p.Val2515=)
c.7514T= (p.Val2505=)
c.7439T= (p.Val2480=)
c.7337T= (p.Val2446=)
c.6968T= (p.Val2323=)
5g.112843412A=CA1573473884APCc.7872A= (p.Val2624=)
c.*7824A= (n.*7824A=)
c.7764A= (p.Val2588=)
c.7818A= (p.Val2606=)
c.231-13237A=
c.7848A= (p.Val2616=)
c.7743A= (p.Val2581=)
c.7734A= (p.Val2578=)
c.7695A= (p.Val2565=)
c.7641A= (p.Val2547=)
c.7545A= (p.Val2515=)
c.7515A= (p.Val2505=)
c.7440A= (p.Val2480=)
c.7338A= (p.Val2446=)
c.6969A= (p.Val2323=)
5g.112843412A>CCA446211261APCc.7872A>C (p.Val2624=)
c.*7824A>C (n.*7824A>C)
c.7764A>C (p.Val2588=)
c.7818A>C (p.Val2606=)
c.231-13237A>C
c.7848A>C (p.Val2616=)
c.7743A>C (p.Val2581=)
c.7734A>C (p.Val2578=)
c.7695A>C (p.Val2565=)
c.7641A>C (p.Val2547=)
c.7545A>C (p.Val2515=)
c.7515A>C (p.Val2505=)
c.7440A>C (p.Val2480=)
c.7338A>C (p.Val2446=)
c.6969A>C (p.Val2323=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112843412A>GCA446211263APCc.7872A>G (p.Val2624=)
c.*7824A>G (n.*7824A>G)
c.7764A>G (p.Val2588=)
c.7818A>G (p.Val2606=)
c.231-13237A>G
c.7848A>G (p.Val2616=)
c.7743A>G (p.Val2581=)
c.7734A>G (p.Val2578=)
c.7695A>G (p.Val2565=)
c.7641A>G (p.Val2547=)
c.7545A>G (p.Val2515=)
c.7515A>G (p.Val2505=)
c.7440A>G (p.Val2480=)
c.7338A>G (p.Val2446=)
c.6969A>G (p.Val2323=)
 ClinVar dbSNP gnomAD v4 COSMIC
5g.112843412A>TCA446211262APCc.7872A>T (p.Val2624=)
c.*7824A>T (n.*7824A>T)
c.7764A>T (p.Val2588=)
c.7818A>T (p.Val2606=)
c.231-13237A>T
c.7848A>T (p.Val2616=)
c.7743A>T (p.Val2581=)
c.7734A>T (p.Val2578=)
c.7695A>T (p.Val2565=)
c.7641A>T (p.Val2547=)
c.7545A>T (p.Val2515=)
c.7515A>T (p.Val2505=)
c.7440A>T (p.Val2480=)
c.7338A>T (p.Val2446=)
c.6969A>T (p.Val2323=)
 ClinVar dbSNP
5g.112843413T>ACA16038318APCc.7873T>A (p.Ser2625Thr)
c.*7825T>A (n.*7825T>A)
c.7765T>A (p.Ser2589Thr)
c.7819T>A (p.Ser2607Thr)
c.231-13236T>A
c.7849T>A (p.Ser2617Thr)
c.7744T>A (p.Ser2582Thr)
c.7735T>A (p.Ser2579Thr)
c.7696T>A (p.Ser2566Thr)
c.7642T>A (p.Ser2548Thr)
c.7546T>A (p.Ser2516Thr)
c.7516T>A (p.Ser2506Thr)
c.7441T>A (p.Ser2481Thr)
c.7339T>A (p.Ser2447Thr)
c.6970T>A (p.Ser2324Thr)
 dbSNP
5g.112843413T>CCA16038319APCc.7873T>C (p.Ser2625Pro)
c.*7825T>C (n.*7825T>C)
c.7765T>C (p.Ser2589Pro)
c.7819T>C (p.Ser2607Pro)
c.231-13236T>C
c.7849T>C (p.Ser2617Pro)
c.7744T>C (p.Ser2582Pro)
c.7735T>C (p.Ser2579Pro)
c.7696T>C (p.Ser2566Pro)
c.7642T>C (p.Ser2548Pro)
c.7546T>C (p.Ser2516Pro)
c.7516T>C (p.Ser2506Pro)
c.7441T>C (p.Ser2481Pro)
c.7339T>C (p.Ser2447Pro)
c.6970T>C (p.Ser2324Pro)
5g.112843413T>GCA16038320APCc.7873T>G (p.Ser2625Ala)
c.*7825T>G (n.*7825T>G)
c.7765T>G (p.Ser2589Ala)
c.7819T>G (p.Ser2607Ala)
c.231-13236T>G
c.7849T>G (p.Ser2617Ala)
c.7744T>G (p.Ser2582Ala)
c.7735T>G (p.Ser2579Ala)
c.7696T>G (p.Ser2566Ala)
c.7642T>G (p.Ser2548Ala)
c.7546T>G (p.Ser2516Ala)
c.7516T>G (p.Ser2506Ala)
c.7441T>G (p.Ser2481Ala)
c.7339T>G (p.Ser2447Ala)
c.6970T>G (p.Ser2324Ala)
 gnomAD v4
5g.112843414C>ACA16038321APCc.7874C>A (p.Ser2625Tyr)
c.*7826C>A (n.*7826C>A)
c.7766C>A (p.Ser2589Tyr)
c.7820C>A (p.Ser2607Tyr)
c.231-13235C>A
c.7850C>A (p.Ser2617Tyr)
c.7745C>A (p.Ser2582Tyr)
c.7736C>A (p.Ser2579Tyr)
c.7697C>A (p.Ser2566Tyr)
c.7643C>A (p.Ser2548Tyr)
c.7547C>A (p.Ser2516Tyr)
c.7517C>A (p.Ser2506Tyr)
c.7442C>A (p.Ser2481Tyr)
c.7340C>A (p.Ser2447Tyr)
c.6971C>A (p.Ser2324Tyr)
 ClinVar
5g.112843414C>GCA16038322APCc.7874C>G (p.Ser2625Cys)
c.*7826C>G (n.*7826C>G)
c.7766C>G (p.Ser2589Cys)
c.7820C>G (p.Ser2607Cys)
c.231-13235C>G
c.7850C>G (p.Ser2617Cys)
c.7745C>G (p.Ser2582Cys)
c.7736C>G (p.Ser2579Cys)
c.7697C>G (p.Ser2566Cys)
c.7643C>G (p.Ser2548Cys)
c.7547C>G (p.Ser2516Cys)
c.7517C>G (p.Ser2506Cys)
c.7442C>G (p.Ser2481Cys)
c.7340C>G (p.Ser2447Cys)
c.6971C>G (p.Ser2324Cys)
5g.112843414C>TCA16038323APCc.7874C>T (p.Ser2625Phe)
c.*7826C>T (n.*7826C>T)
c.7766C>T (p.Ser2589Phe)
c.7820C>T (p.Ser2607Phe)
c.231-13235C>T
c.7850C>T (p.Ser2617Phe)
c.7745C>T (p.Ser2582Phe)
c.7736C>T (p.Ser2579Phe)
c.7697C>T (p.Ser2566Phe)
c.7643C>T (p.Ser2548Phe)
c.7547C>T (p.Ser2516Phe)
c.7517C>T (p.Ser2506Phe)
c.7442C>T (p.Ser2481Phe)
c.7340C>T (p.Ser2447Phe)
c.6971C>T (p.Ser2324Phe)
5g.112843415C>ACA446211264APCc.7875C>A (p.Ser2625=)
c.*7827C>A (n.*7827C>A)
c.7767C>A (p.Ser2589=)
c.7821C>A (p.Ser2607=)
c.231-13234C>A
c.7851C>A (p.Ser2617=)
c.7746C>A (p.Ser2582=)
c.7737C>A (p.Ser2579=)
c.7698C>A (p.Ser2566=)
c.7644C>A (p.Ser2548=)
c.7548C>A (p.Ser2516=)
c.7518C>A (p.Ser2506=)
c.7443C>A (p.Ser2481=)
c.7341C>A (p.Ser2447=)
c.6972C>A (p.Ser2324=)
 dbSNP COSMIC
5g.112843415C=CA1573473890APCc.7875C= (p.Ser2625=)
c.*7827C= (n.*7827C=)
c.7767C= (p.Ser2589=)
c.7821C= (p.Ser2607=)
c.231-13234C=
c.7851C= (p.Ser2617=)
c.7746C= (p.Ser2582=)
c.7737C= (p.Ser2579=)
c.7698C= (p.Ser2566=)
c.7644C= (p.Ser2548=)
c.7548C= (p.Ser2516=)
c.7518C= (p.Ser2506=)
c.7443C= (p.Ser2481=)
c.7341C= (p.Ser2447=)
c.6972C= (p.Ser2324=)
5g.112843415C>GCA446211265APCc.7875C>G (p.Ser2625=)
c.*7827C>G (n.*7827C>G)
c.7767C>G (p.Ser2589=)
c.7821C>G (p.Ser2607=)
c.231-13234C>G
c.7851C>G (p.Ser2617=)
c.7746C>G (p.Ser2582=)
c.7737C>G (p.Ser2579=)
c.7698C>G (p.Ser2566=)
c.7644C>G (p.Ser2548=)
c.7548C>G (p.Ser2516=)
c.7518C>G (p.Ser2506=)
c.7443C>G (p.Ser2481=)
c.7341C>G (p.Ser2447=)
c.6972C>G (p.Ser2324=)
 dbSNP
5g.112843415C>TCA014089APCc.7875C>T (p.Ser2625=)
c.*7827C>T (n.*7827C>T)
c.7767C>T (p.Ser2589=)
c.7821C>T (p.Ser2607=)
c.231-13234C>T
c.7851C>T (p.Ser2617=)
c.7746C>T (p.Ser2582=)
c.7737C>T (p.Ser2579=)
c.7698C>T (p.Ser2566=)
c.7644C>T (p.Ser2548=)
c.7548C>T (p.Ser2516=)
c.7518C>T (p.Ser2506=)
c.7443C>T (p.Ser2481=)
c.7341C>T (p.Ser2447=)
c.6972C>T (p.Ser2324=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843416G>ACA10582340APCc.7876G>A (p.Ala2626Thr)
c.*7828G>A (n.*7828G>A)
c.7768G>A (p.Ala2590Thr)
c.7822G>A (p.Ala2608Thr)
c.231-13233G>A
c.7852G>A (p.Ala2618Thr)
c.7747G>A (p.Ala2583Thr)
c.7738G>A (p.Ala2580Thr)
c.7699G>A (p.Ala2567Thr)
c.7645G>A (p.Ala2549Thr)
c.7549G>A (p.Ala2517Thr)
c.7519G>A (p.Ala2507Thr)
c.7444G>A (p.Ala2482Thr)
c.7342G>A (p.Ala2448Thr)
c.6973G>A (p.Ala2325Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112843416G>CCA16038324APCc.7876G>C (p.Ala2626Pro)
c.*7828G>C (n.*7828G>C)
c.7768G>C (p.Ala2590Pro)
c.7822G>C (p.Ala2608Pro)
c.231-13233G>C
c.7852G>C (p.Ala2618Pro)
c.7747G>C (p.Ala2583Pro)
c.7738G>C (p.Ala2580Pro)
c.7699G>C (p.Ala2567Pro)
c.7645G>C (p.Ala2549Pro)
c.7549G>C (p.Ala2517Pro)
c.7519G>C (p.Ala2507Pro)
c.7444G>C (p.Ala2482Pro)
c.7342G>C (p.Ala2448Pro)
c.6973G>C (p.Ala2325Pro)
 dbSNP
5g.112843416G=CA1573473901APCc.7876G= (p.Ala2626=)
c.*7828G= (n.*7828G=)
c.7768G= (p.Ala2590=)
c.7822G= (p.Ala2608=)
c.231-13233G=
c.7852G= (p.Ala2618=)
c.7747G= (p.Ala2583=)
c.7738G= (p.Ala2580=)
c.7699G= (p.Ala2567=)
c.7645G= (p.Ala2549=)
c.7549G= (p.Ala2517=)
c.7519G= (p.Ala2507=)
c.7444G= (p.Ala2482=)
c.7342G= (p.Ala2448=)
c.6973G= (p.Ala2325=)
5g.112843416G>TCA16038325APCc.7876G>T (p.Ala2626Ser)
c.*7828G>T (n.*7828G>T)
c.7768G>T (p.Ala2590Ser)
c.7822G>T (p.Ala2608Ser)
c.231-13233G>T
c.7852G>T (p.Ala2618Ser)
c.7747G>T (p.Ala2583Ser)
c.7738G>T (p.Ala2580Ser)
c.7699G>T (p.Ala2567Ser)
c.7645G>T (p.Ala2549Ser)
c.7549G>T (p.Ala2517Ser)
c.7519G>T (p.Ala2507Ser)
c.7444G>T (p.Ala2482Ser)
c.7342G>T (p.Ala2448Ser)
c.6973G>T (p.Ala2325Ser)
 dbSNP
5g.112843417C>ACA16038326APCc.7877C>A (p.Ala2626Glu)
c.*7829C>A (n.*7829C>A)
c.7769C>A (p.Ala2590Glu)
c.7823C>A (p.Ala2608Glu)
c.231-13232C>A
c.7853C>A (p.Ala2618Glu)
c.7748C>A (p.Ala2583Glu)
c.7739C>A (p.Ala2580Glu)
c.7700C>A (p.Ala2567Glu)
c.7646C>A (p.Ala2549Glu)
c.7550C>A (p.Ala2517Glu)
c.7520C>A (p.Ala2507Glu)
c.7445C>A (p.Ala2482Glu)
c.7343C>A (p.Ala2448Glu)
c.6974C>A (p.Ala2325Glu)
 dbSNP
5g.112843417C=CA1573473908APCc.7877C= (p.Ala2626=)
c.*7829C= (n.*7829C=)
c.7769C= (p.Ala2590=)
c.7823C= (p.Ala2608=)
c.231-13232C=
c.7853C= (p.Ala2618=)
c.7748C= (p.Ala2583=)
c.7739C= (p.Ala2580=)
c.7700C= (p.Ala2567=)
c.7646C= (p.Ala2549=)
c.7550C= (p.Ala2517=)
c.7520C= (p.Ala2507=)
c.7445C= (p.Ala2482=)
c.7343C= (p.Ala2448=)
c.6974C= (p.Ala2325=)
5g.112843417C>GCA16038327APCc.7877C>G (p.Ala2626Gly)
c.*7829C>G (n.*7829C>G)
c.7769C>G (p.Ala2590Gly)
c.7823C>G (p.Ala2608Gly)
c.231-13232C>G
c.7853C>G (p.Ala2618Gly)
c.7748C>G (p.Ala2583Gly)
c.7739C>G (p.Ala2580Gly)
c.7700C>G (p.Ala2567Gly)
c.7646C>G (p.Ala2549Gly)
c.7550C>G (p.Ala2517Gly)
c.7520C>G (p.Ala2507Gly)
c.7445C>G (p.Ala2482Gly)
c.7343C>G (p.Ala2448Gly)
c.6974C>G (p.Ala2325Gly)
 ClinVar dbSNP
5g.112843417C>TCA16038328APCc.7877C>T (p.Ala2626Val)
c.*7829C>T (n.*7829C>T)
c.7769C>T (p.Ala2590Val)
c.7823C>T (p.Ala2608Val)
c.231-13232C>T
c.7853C>T (p.Ala2618Val)
c.7748C>T (p.Ala2583Val)
c.7739C>T (p.Ala2580Val)
c.7700C>T (p.Ala2567Val)
c.7646C>T (p.Ala2549Val)
c.7550C>T (p.Ala2517Val)
c.7520C>T (p.Ala2507Val)
c.7445C>T (p.Ala2482Val)
c.7343C>T (p.Ala2448Val)
c.6974C>T (p.Ala2325Val)
 ClinVar dbSNP
5g.112843418A>CCA446211267APCc.7878A>C (p.Ala2626=)
c.*7830A>C (n.*7830A>C)
c.7770A>C (p.Ala2590=)
c.7824A>C (p.Ala2608=)
c.231-13231A>C
c.7854A>C (p.Ala2618=)
c.7749A>C (p.Ala2583=)
c.7740A>C (p.Ala2580=)
c.7701A>C (p.Ala2567=)
c.7647A>C (p.Ala2549=)
c.7551A>C (p.Ala2517=)
c.7521A>C (p.Ala2507=)
c.7446A>C (p.Ala2482=)
c.7344A>C (p.Ala2448=)
c.6975A>C (p.Ala2325=)
 dbSNP
5g.112843418A>GCA446211268APCc.7878A>G (p.Ala2626=)
c.*7830A>G (n.*7830A>G)
c.7770A>G (p.Ala2590=)
c.7824A>G (p.Ala2608=)
c.231-13231A>G
c.7854A>G (p.Ala2618=)
c.7749A>G (p.Ala2583=)
c.7740A>G (p.Ala2580=)
c.7701A>G (p.Ala2567=)
c.7647A>G (p.Ala2549=)
c.7551A>G (p.Ala2517=)
c.7521A>G (p.Ala2507=)
c.7446A>G (p.Ala2482=)
c.7344A>G (p.Ala2448=)
c.6975A>G (p.Ala2325=)
 dbSNP
5g.112843418A>TCA446211269APCc.7878A>T (p.Ala2626=)
c.*7830A>T (n.*7830A>T)
c.7770A>T (p.Ala2590=)
c.7824A>T (p.Ala2608=)
c.231-13231A>T
c.7854A>T (p.Ala2618=)
c.7749A>T (p.Ala2583=)
c.7740A>T (p.Ala2580=)
c.7701A>T (p.Ala2567=)
c.7647A>T (p.Ala2549=)
c.7551A>T (p.Ala2517=)
c.7521A>T (p.Ala2507=)
c.7446A>T (p.Ala2482=)
c.7344A>T (p.Ala2448=)
c.6975A>T (p.Ala2325=)
 dbSNP
5g.112843419A>CCA16038329APCc.7879A>C (p.Lys2627Gln)
c.*7831A>C (n.*7831A>C)
c.7771A>C (p.Lys2591Gln)
c.7825A>C (p.Lys2609Gln)
c.231-13230A>C
c.7855A>C (p.Lys2619Gln)
c.7750A>C (p.Lys2584Gln)
c.7741A>C (p.Lys2581Gln)
c.7702A>C (p.Lys2568Gln)
c.7648A>C (p.Lys2550Gln)
c.7552A>C (p.Lys2518Gln)
c.7522A>C (p.Lys2508Gln)
c.7447A>C (p.Lys2483Gln)
c.7345A>C (p.Lys2449Gln)
c.6976A>C (p.Lys2326Gln)
5g.112843419A>GCA16038330APCc.7879A>G (p.Lys2627Glu)
c.*7831A>G (n.*7831A>G)
c.7771A>G (p.Lys2591Glu)
c.7825A>G (p.Lys2609Glu)
c.231-13230A>G
c.7855A>G (p.Lys2619Glu)
c.7750A>G (p.Lys2584Glu)
c.7741A>G (p.Lys2581Glu)
c.7702A>G (p.Lys2568Glu)
c.7648A>G (p.Lys2550Glu)
c.7552A>G (p.Lys2518Glu)
c.7522A>G (p.Lys2508Glu)
c.7447A>G (p.Lys2483Glu)
c.7345A>G (p.Lys2449Glu)
c.6976A>G (p.Lys2326Glu)
 ClinVar
5g.112843419A>TCA16038331APCc.7879A>T (p.Lys2627Ter)
c.*7831A>T (n.*7831A>T)
c.7771A>T (p.Lys2591Ter)
c.7825A>T (p.Lys2609Ter)
c.231-13230A>T
c.7855A>T (p.Lys2619Ter)
c.7750A>T (p.Lys2584Ter)
c.7741A>T (p.Lys2581Ter)
c.7702A>T (p.Lys2568Ter)
c.7648A>T (p.Lys2550Ter)
c.7552A>T (p.Lys2518Ter)
c.7522A>T (p.Lys2508Ter)
c.7447A>T (p.Lys2483Ter)
c.7345A>T (p.Lys2449Ter)
c.6976A>T (p.Lys2326Ter)
 dbSNP
5g.112843420A>CCA16038332APCc.7880A>C (p.Lys2627Thr)
c.*7832A>C (n.*7832A>C)
c.7772A>C (p.Lys2591Thr)
c.7826A>C (p.Lys2609Thr)
c.231-13229A>C
c.7856A>C (p.Lys2619Thr)
c.7751A>C (p.Lys2584Thr)
c.7742A>C (p.Lys2581Thr)
c.7703A>C (p.Lys2568Thr)
c.7649A>C (p.Lys2550Thr)
c.7553A>C (p.Lys2518Thr)
c.7523A>C (p.Lys2508Thr)
c.7448A>C (p.Lys2483Thr)
c.7346A>C (p.Lys2449Thr)
c.6977A>C (p.Lys2326Thr)
5g.112843420A>GCA16038333APCc.7880A>G (p.Lys2627Arg)
c.*7832A>G (n.*7832A>G)
c.7772A>G (p.Lys2591Arg)
c.7826A>G (p.Lys2609Arg)
c.231-13229A>G
c.7856A>G (p.Lys2619Arg)
c.7751A>G (p.Lys2584Arg)
c.7742A>G (p.Lys2581Arg)
c.7703A>G (p.Lys2568Arg)
c.7649A>G (p.Lys2550Arg)
c.7553A>G (p.Lys2518Arg)
c.7523A>G (p.Lys2508Arg)
c.7448A>G (p.Lys2483Arg)
c.7346A>G (p.Lys2449Arg)
c.6977A>G (p.Lys2326Arg)
5g.112843420A>TCA16038334APCc.7880A>T (p.Lys2627Ile)
c.*7832A>T (n.*7832A>T)
c.7772A>T (p.Lys2591Ile)
c.7826A>T (p.Lys2609Ile)
c.231-13229A>T
c.7856A>T (p.Lys2619Ile)
c.7751A>T (p.Lys2584Ile)
c.7742A>T (p.Lys2581Ile)
c.7703A>T (p.Lys2568Ile)
c.7649A>T (p.Lys2550Ile)
c.7553A>T (p.Lys2518Ile)
c.7523A>T (p.Lys2508Ile)
c.7448A>T (p.Lys2483Ile)
c.7346A>T (p.Lys2449Ile)
c.6977A>T (p.Lys2326Ile)
5g.112843421A>CCA16038335APCc.7881A>C (p.Lys2627Asn)
c.*7833A>C (n.*7833A>C)
c.7773A>C (p.Lys2591Asn)
c.7827A>C (p.Lys2609Asn)
c.231-13228A>C
c.7857A>C (p.Lys2619Asn)
c.7752A>C (p.Lys2584Asn)
c.7743A>C (p.Lys2581Asn)
c.7704A>C (p.Lys2568Asn)
c.7650A>C (p.Lys2550Asn)
c.7554A>C (p.Lys2518Asn)
c.7524A>C (p.Lys2508Asn)
c.7449A>C (p.Lys2483Asn)
c.7347A>C (p.Lys2449Asn)
c.6978A>C (p.Lys2326Asn)
5g.112843421A>GCA446211272APCc.7881A>G (p.Lys2627=)
c.*7833A>G (n.*7833A>G)
c.7773A>G (p.Lys2591=)
c.7827A>G (p.Lys2609=)
c.231-13228A>G
c.7857A>G (p.Lys2619=)
c.7752A>G (p.Lys2584=)
c.7743A>G (p.Lys2581=)
c.7704A>G (p.Lys2568=)
c.7650A>G (p.Lys2550=)
c.7554A>G (p.Lys2518=)
c.7524A>G (p.Lys2508=)
c.7449A>G (p.Lys2483=)
c.7347A>G (p.Lys2449=)
c.6978A>G (p.Lys2326=)
 dbSNP
5g.112843421A>TCA16038336APCc.7881A>T (p.Lys2627Asn)
c.*7833A>T (n.*7833A>T)
c.7773A>T (p.Lys2591Asn)
c.7827A>T (p.Lys2609Asn)
c.231-13228A>T
c.7857A>T (p.Lys2619Asn)
c.7752A>T (p.Lys2584Asn)
c.7743A>T (p.Lys2581Asn)
c.7704A>T (p.Lys2568Asn)
c.7650A>T (p.Lys2550Asn)
c.7554A>T (p.Lys2518Asn)
c.7524A>T (p.Lys2508Asn)
c.7449A>T (p.Lys2483Asn)
c.7347A>T (p.Lys2449Asn)
c.6978A>T (p.Lys2326Asn)
 dbSNP
5g.112843422G>ACA16038337APCc.7882G>A (p.Gly2628Arg)
c.*7834G>A (n.*7834G>A)
c.7774G>A (p.Gly2592Arg)
c.7828G>A (p.Gly2610Arg)
c.231-13227G>A
c.7858G>A (p.Gly2620Arg)
c.7753G>A (p.Gly2585Arg)
c.7744G>A (p.Gly2582Arg)
c.7705G>A (p.Gly2569Arg)
c.7651G>A (p.Gly2551Arg)
c.7555G>A (p.Gly2519Arg)
c.7525G>A (p.Gly2509Arg)
c.7450G>A (p.Gly2484Arg)
c.7348G>A (p.Gly2450Arg)
c.6979G>A (p.Gly2327Arg)
 ClinVar dbSNP
5g.112843422G>CCA16038338APCc.7882G>C (p.Gly2628Arg)
c.*7834G>C (n.*7834G>C)
c.7774G>C (p.Gly2592Arg)
c.7828G>C (p.Gly2610Arg)
c.231-13227G>C
c.7858G>C (p.Gly2620Arg)
c.7753G>C (p.Gly2585Arg)
c.7744G>C (p.Gly2582Arg)
c.7705G>C (p.Gly2569Arg)
c.7651G>C (p.Gly2551Arg)
c.7555G>C (p.Gly2519Arg)
c.7525G>C (p.Gly2509Arg)
c.7450G>C (p.Gly2484Arg)
c.7348G>C (p.Gly2450Arg)
c.6979G>C (p.Gly2327Arg)
 ClinVar dbSNP
5g.112843422G>TCA16038339APCc.7882G>T (p.Gly2628Ter)
c.*7834G>T (n.*7834G>T)
c.7774G>T (p.Gly2592Ter)
c.7828G>T (p.Gly2610Ter)
c.231-13227G>T
c.7858G>T (p.Gly2620Ter)
c.7753G>T (p.Gly2585Ter)
c.7744G>T (p.Gly2582Ter)
c.7705G>T (p.Gly2569Ter)
c.7651G>T (p.Gly2551Ter)
c.7555G>T (p.Gly2519Ter)
c.7525G>T (p.Gly2509Ter)
c.7450G>T (p.Gly2484Ter)
c.7348G>T (p.Gly2450Ter)
c.6979G>T (p.Gly2327Ter)
 dbSNP
5g.112843423G>ACA16038340APCc.7883G>A (p.Gly2628Glu)
c.*7835G>A (n.*7835G>A)
c.7775G>A (p.Gly2592Glu)
c.7829G>A (p.Gly2610Glu)
c.231-13226G>A
c.7859G>A (p.Gly2620Glu)
c.7754G>A (p.Gly2585Glu)
c.7745G>A (p.Gly2582Glu)
c.7706G>A (p.Gly2569Glu)
c.7652G>A (p.Gly2551Glu)
c.7556G>A (p.Gly2519Glu)
c.7526G>A (p.Gly2509Glu)
c.7451G>A (p.Gly2484Glu)
c.7349G>A (p.Gly2450Glu)
c.6980G>A (p.Gly2327Glu)
 ClinVar dbSNP
5g.112843423G>CCA16038341APCc.7883G>C (p.Gly2628Ala)
c.*7835G>C (n.*7835G>C)
c.7775G>C (p.Gly2592Ala)
c.7829G>C (p.Gly2610Ala)
c.231-13226G>C
c.7859G>C (p.Gly2620Ala)
c.7754G>C (p.Gly2585Ala)
c.7745G>C (p.Gly2582Ala)
c.7706G>C (p.Gly2569Ala)
c.7652G>C (p.Gly2551Ala)
c.7556G>C (p.Gly2519Ala)
c.7526G>C (p.Gly2509Ala)
c.7451G>C (p.Gly2484Ala)
c.7349G>C (p.Gly2450Ala)
c.6980G>C (p.Gly2327Ala)
 ClinVar dbSNP COSMIC
5g.112843423G=CA1573473923APCc.7883G= (p.Gly2628=)
c.*7835G= (n.*7835G=)
c.7775G= (p.Gly2592=)
c.7829G= (p.Gly2610=)
c.231-13226G=
c.7859G= (p.Gly2620=)
c.7754G= (p.Gly2585=)
c.7745G= (p.Gly2582=)
c.7706G= (p.Gly2569=)
c.7652G= (p.Gly2551=)
c.7556G= (p.Gly2519=)
c.7526G= (p.Gly2509=)
c.7451G= (p.Gly2484=)
c.7349G= (p.Gly2450=)
c.6980G= (p.Gly2327=)
5g.112843423G>TCA16038342APCc.7883G>T (p.Gly2628Val)
c.*7835G>T (n.*7835G>T)
c.7775G>T (p.Gly2592Val)
c.7829G>T (p.Gly2610Val)
c.231-13226G>T
c.7859G>T (p.Gly2620Val)
c.7754G>T (p.Gly2585Val)
c.7745G>T (p.Gly2582Val)
c.7706G>T (p.Gly2569Val)
c.7652G>T (p.Gly2551Val)
c.7556G>T (p.Gly2519Val)
c.7526G>T (p.Gly2509Val)
c.7451G>T (p.Gly2484Val)
c.7349G>T (p.Gly2450Val)
c.6980G>T (p.Gly2327Val)
 ClinVar dbSNP gnomAD v4
5g.112843424A>CCA446211273APCc.7884A>C (p.Gly2628=)
c.*7836A>C (n.*7836A>C)
c.7776A>C (p.Gly2592=)
c.7830A>C (p.Gly2610=)
c.231-13225A>C
c.7860A>C (p.Gly2620=)
c.7755A>C (p.Gly2585=)
c.7746A>C (p.Gly2582=)
c.7707A>C (p.Gly2569=)
c.7653A>C (p.Gly2551=)
c.7557A>C (p.Gly2519=)
c.7527A>C (p.Gly2509=)
c.7452A>C (p.Gly2484=)
c.7350A>C (p.Gly2450=)
c.6981A>C (p.Gly2327=)
5g.112843424A>GCA446211274APCc.7884A>G (p.Gly2628=)
c.*7836A>G (n.*7836A>G)
c.7776A>G (p.Gly2592=)
c.7830A>G (p.Gly2610=)
c.231-13225A>G
c.7860A>G (p.Gly2620=)
c.7755A>G (p.Gly2585=)
c.7746A>G (p.Gly2582=)
c.7707A>G (p.Gly2569=)
c.7653A>G (p.Gly2551=)
c.7557A>G (p.Gly2519=)
c.7527A>G (p.Gly2509=)
c.7452A>G (p.Gly2484=)
c.7350A>G (p.Gly2450=)
c.6981A>G (p.Gly2327=)
 COSMIC
5g.112843424A>TCA446211275APCc.7884A>T (p.Gly2628=)
c.*7836A>T (n.*7836A>T)
c.7776A>T (p.Gly2592=)
c.7830A>T (p.Gly2610=)
c.231-13225A>T
c.7860A>T (p.Gly2620=)
c.7755A>T (p.Gly2585=)
c.7746A>T (p.Gly2582=)
c.7707A>T (p.Gly2569=)
c.7653A>T (p.Gly2551=)
c.7557A>T (p.Gly2519=)
c.7527A>T (p.Gly2509=)
c.7452A>T (p.Gly2484=)
c.7350A>T (p.Gly2450=)
c.6981A>T (p.Gly2327=)
5g.112843425A=CA1573473936APCc.7885A= (p.Thr2629=)
c.*7837A= (n.*7837A=)
c.7777A= (p.Thr2593=)
c.7831A= (p.Thr2611=)
c.231-13224A=
c.7861A= (p.Thr2621=)
c.7756A= (p.Thr2586=)
c.7747A= (p.Thr2583=)
c.7708A= (p.Thr2570=)
c.7654A= (p.Thr2552=)
c.7558A= (p.Thr2520=)
c.7528A= (p.Thr2510=)
c.7453A= (p.Thr2485=)
c.7351A= (p.Thr2451=)
c.6982A= (p.Thr2328=)
5g.112843425A>CCA16038343APCc.7885A>C (p.Thr2629Pro)
c.*7837A>C (n.*7837A>C)
c.7777A>C (p.Thr2593Pro)
c.7831A>C (p.Thr2611Pro)
c.231-13224A>C
c.7861A>C (p.Thr2621Pro)
c.7756A>C (p.Thr2586Pro)
c.7747A>C (p.Thr2583Pro)
c.7708A>C (p.Thr2570Pro)
c.7654A>C (p.Thr2552Pro)
c.7558A>C (p.Thr2520Pro)
c.7528A>C (p.Thr2510Pro)
c.7453A>C (p.Thr2485Pro)
c.7351A>C (p.Thr2451Pro)
c.6982A>C (p.Thr2328Pro)
 dbSNP
5g.112843425A>GCA16038344APCc.7885A>G (p.Thr2629Ala)
c.*7837A>G (n.*7837A>G)
c.7777A>G (p.Thr2593Ala)
c.7831A>G (p.Thr2611Ala)
c.231-13224A>G
c.7861A>G (p.Thr2621Ala)
c.7756A>G (p.Thr2586Ala)
c.7747A>G (p.Thr2583Ala)
c.7708A>G (p.Thr2570Ala)
c.7654A>G (p.Thr2552Ala)
c.7558A>G (p.Thr2520Ala)
c.7528A>G (p.Thr2510Ala)
c.7453A>G (p.Thr2485Ala)
c.7351A>G (p.Thr2451Ala)
c.6982A>G (p.Thr2328Ala)
 dbSNP
5g.112843425A>TCA16038345APCc.7885A>T (p.Thr2629Ser)
c.*7837A>T (n.*7837A>T)
c.7777A>T (p.Thr2593Ser)
c.7831A>T (p.Thr2611Ser)
c.231-13224A>T
c.7861A>T (p.Thr2621Ser)
c.7756A>T (p.Thr2586Ser)
c.7747A>T (p.Thr2583Ser)
c.7708A>T (p.Thr2570Ser)
c.7654A>T (p.Thr2552Ser)
c.7558A>T (p.Thr2520Ser)
c.7528A>T (p.Thr2510Ser)
c.7453A>T (p.Thr2485Ser)
c.7351A>T (p.Thr2451Ser)
c.6982A>T (p.Thr2328Ser)
 ClinVar dbSNP
5g.112843426C>ACA049276APCc.7886C>A (p.Thr2629Lys)
c.*7838C>A (n.*7838C>A)
c.7778C>A (p.Thr2593Lys)
c.7832C>A (p.Thr2611Lys)
c.231-13223C>A
c.7862C>A (p.Thr2621Lys)
c.7757C>A (p.Thr2586Lys)
c.7748C>A (p.Thr2583Lys)
c.7709C>A (p.Thr2570Lys)
c.7655C>A (p.Thr2552Lys)
c.7559C>A (p.Thr2520Lys)
c.7529C>A (p.Thr2510Lys)
c.7454C>A (p.Thr2485Lys)
c.7352C>A (p.Thr2451Lys)
c.6983C>A (p.Thr2328Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843426C=CA1573473962APCc.7886C= (p.Thr2629=)
c.*7838C= (n.*7838C=)
c.7778C= (p.Thr2593=)
c.7832C= (p.Thr2611=)
c.231-13223C=
c.7862C= (p.Thr2621=)
c.7757C= (p.Thr2586=)
c.7748C= (p.Thr2583=)
c.7709C= (p.Thr2570=)
c.7655C= (p.Thr2552=)
c.7559C= (p.Thr2520=)
c.7529C= (p.Thr2510=)
c.7454C= (p.Thr2485=)
c.7352C= (p.Thr2451=)
c.6983C= (p.Thr2328=)
5g.112843426C>GCA16038346APCc.7886C>G (p.Thr2629Arg)
c.*7838C>G (n.*7838C>G)
c.7778C>G (p.Thr2593Arg)
c.7832C>G (p.Thr2611Arg)
c.231-13223C>G
c.7862C>G (p.Thr2621Arg)
c.7757C>G (p.Thr2586Arg)
c.7748C>G (p.Thr2583Arg)
c.7709C>G (p.Thr2570Arg)
c.7655C>G (p.Thr2552Arg)
c.7559C>G (p.Thr2520Arg)
c.7529C>G (p.Thr2510Arg)
c.7454C>G (p.Thr2485Arg)
c.7352C>G (p.Thr2451Arg)
c.6983C>G (p.Thr2328Arg)
 ClinVar dbSNP
5g.112843426C>TCA014100APCc.7886C>T (p.Thr2629Ile)
c.*7838C>T (n.*7838C>T)
c.7778C>T (p.Thr2593Ile)
c.7832C>T (p.Thr2611Ile)
c.231-13223C>T
c.7862C>T (p.Thr2621Ile)
c.7757C>T (p.Thr2586Ile)
c.7748C>T (p.Thr2583Ile)
c.7709C>T (p.Thr2570Ile)
c.7655C>T (p.Thr2552Ile)
c.7559C>T (p.Thr2520Ile)
c.7529C>T (p.Thr2510Ile)
c.7454C>T (p.Thr2485Ile)
c.7352C>T (p.Thr2451Ile)
c.6983C>T (p.Thr2328Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112843427A=CA1573473983APCc.7887A= (p.Thr2629=)
c.*7839A= (n.*7839A=)
c.7779A= (p.Thr2593=)
c.7833A= (p.Thr2611=)
c.231-13222A=
c.7863A= (p.Thr2621=)
c.7758A= (p.Thr2586=)
c.7749A= (p.Thr2583=)
c.7710A= (p.Thr2570=)
c.7656A= (p.Thr2552=)
c.7560A= (p.Thr2520=)
c.7530A= (p.Thr2510=)
c.7455A= (p.Thr2485=)
c.7353A= (p.Thr2451=)
c.6984A= (p.Thr2328=)
5g.112843427A>CCA446211276APCc.7887A>C (p.Thr2629=)
c.*7839A>C (n.*7839A>C)
c.7779A>C (p.Thr2593=)
c.7833A>C (p.Thr2611=)
c.231-13222A>C
c.7863A>C (p.Thr2621=)
c.7758A>C (p.Thr2586=)
c.7749A>C (p.Thr2583=)
c.7710A>C (p.Thr2570=)
c.7656A>C (p.Thr2552=)
c.7560A>C (p.Thr2520=)
c.7530A>C (p.Thr2510=)
c.7455A>C (p.Thr2485=)
c.7353A>C (p.Thr2451=)
c.6984A>C (p.Thr2328=)
5g.112843427A>GCA16605202APCc.7887A>G (p.Thr2629=)
c.*7839A>G (n.*7839A>G)
c.7779A>G (p.Thr2593=)
c.7833A>G (p.Thr2611=)
c.231-13222A>G
c.7863A>G (p.Thr2621=)
c.7758A>G (p.Thr2586=)
c.7749A>G (p.Thr2583=)
c.7710A>G (p.Thr2570=)
c.7656A>G (p.Thr2552=)
c.7560A>G (p.Thr2520=)
c.7530A>G (p.Thr2510=)
c.7455A>G (p.Thr2485=)
c.7353A>G (p.Thr2451=)
c.6984A>G (p.Thr2328=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112843427A>TCA446211277APCc.7887A>T (p.Thr2629=)
c.*7839A>T (n.*7839A>T)
c.7779A>T (p.Thr2593=)
c.7833A>T (p.Thr2611=)
c.231-13222A>T
c.7863A>T (p.Thr2621=)
c.7758A>T (p.Thr2586=)
c.7749A>T (p.Thr2583=)
c.7710A>T (p.Thr2570=)
c.7656A>T (p.Thr2552=)
c.7560A>T (p.Thr2520=)
c.7530A>T (p.Thr2510=)
c.7455A>T (p.Thr2485=)
c.7353A>T (p.Thr2451=)
c.6984A>T (p.Thr2328=)
 dbSNP
5g.112843428T>ACA16038347APCc.7888T>A (p.Trp2630Arg)
c.*7840T>A (n.*7840T>A)
c.7780T>A (p.Trp2594Arg)
c.7834T>A (p.Trp2612Arg)
c.231-13221T>A
c.7864T>A (p.Trp2622Arg)
c.7759T>A (p.Trp2587Arg)
c.7750T>A (p.Trp2584Arg)
c.7711T>A (p.Trp2571Arg)
c.7657T>A (p.Trp2553Arg)
c.7561T>A (p.Trp2521Arg)
c.7531T>A (p.Trp2511Arg)
c.7456T>A (p.Trp2486Arg)
c.7354T>A (p.Trp2452Arg)
c.6985T>A (p.Trp2329Arg)
5g.112843428T>CCA16038348APCc.7888T>C (p.Trp2630Arg)
c.*7840T>C (n.*7840T>C)
c.7780T>C (p.Trp2594Arg)
c.7834T>C (p.Trp2612Arg)
c.231-13221T>C
c.7864T>C (p.Trp2622Arg)
c.7759T>C (p.Trp2587Arg)
c.7750T>C (p.Trp2584Arg)
c.7711T>C (p.Trp2571Arg)
c.7657T>C (p.Trp2553Arg)
c.7561T>C (p.Trp2521Arg)
c.7531T>C (p.Trp2511Arg)
c.7456T>C (p.Trp2486Arg)
c.7354T>C (p.Trp2452Arg)
c.6985T>C (p.Trp2329Arg)
5g.112843428T>GCA16038349APCc.7888T>G (p.Trp2630Gly)
c.*7840T>G (n.*7840T>G)
c.7780T>G (p.Trp2594Gly)
c.7834T>G (p.Trp2612Gly)
c.231-13221T>G
c.7864T>G (p.Trp2622Gly)
c.7759T>G (p.Trp2587Gly)
c.7750T>G (p.Trp2584Gly)
c.7711T>G (p.Trp2571Gly)
c.7657T>G (p.Trp2553Gly)
c.7561T>G (p.Trp2521Gly)
c.7531T>G (p.Trp2511Gly)
c.7456T>G (p.Trp2486Gly)
c.7354T>G (p.Trp2452Gly)
c.6985T>G (p.Trp2329Gly)
5g.112843429G>ACA16038350APCc.7889G>A (p.Trp2630Ter)
c.*7841G>A (n.*7841G>A)
c.7781G>A (p.Trp2594Ter)
c.7835G>A (p.Trp2612Ter)
c.231-13220G>A
c.7865G>A (p.Trp2622Ter)
c.7760G>A (p.Trp2587Ter)
c.7751G>A (p.Trp2584Ter)
c.7712G>A (p.Trp2571Ter)
c.7658G>A (p.Trp2553Ter)
c.7562G>A (p.Trp2521Ter)
c.7532G>A (p.Trp2511Ter)
c.7457G>A (p.Trp2486Ter)
c.7355G>A (p.Trp2452Ter)
c.6986G>A (p.Trp2329Ter)
5g.112843429G>CCA16038351APCc.7889G>C (p.Trp2630Ser)
c.*7841G>C (n.*7841G>C)
c.7781G>C (p.Trp2594Ser)
c.7835G>C (p.Trp2612Ser)
c.231-13220G>C
c.7865G>C (p.Trp2622Ser)
c.7760G>C (p.Trp2587Ser)
c.7751G>C (p.Trp2584Ser)
c.7712G>C (p.Trp2571Ser)
c.7658G>C (p.Trp2553Ser)
c.7562G>C (p.Trp2521Ser)
c.7532G>C (p.Trp2511Ser)
c.7457G>C (p.Trp2486Ser)
c.7355G>C (p.Trp2452Ser)
c.6986G>C (p.Trp2329Ser)
 ClinVar dbSNP
5g.112843429G>TCA16038352APCc.7889G>T (p.Trp2630Leu)
c.*7841G>T (n.*7841G>T)
c.7781G>T (p.Trp2594Leu)
c.7835G>T (p.Trp2612Leu)
c.231-13220G>T
c.7865G>T (p.Trp2622Leu)
c.7760G>T (p.Trp2587Leu)
c.7751G>T (p.Trp2584Leu)
c.7712G>T (p.Trp2571Leu)
c.7658G>T (p.Trp2553Leu)
c.7562G>T (p.Trp2521Leu)
c.7532G>T (p.Trp2511Leu)
c.7457G>T (p.Trp2486Leu)
c.7355G>T (p.Trp2452Leu)
c.6986G>T (p.Trp2329Leu)
5g.112843430delCA2709990676APCc.7890del (p.Trp2630Ter)
c.*7842del (n.*7842del)
c.7782del (p.Trp2594Ter)
c.7836del (p.Trp2612Ter)
c.231-13219del
c.7866del (p.Trp2622Ter)
c.7761del (p.Trp2587Ter)
c.7752del (p.Trp2584Ter)
c.7713del (p.Trp2571Ter)
c.7659del (p.Trp2553Ter)
c.7563del (p.Trp2521Ter)
c.7533del (p.Trp2511Ter)
c.7458del (p.Trp2486Ter)
c.7356del (p.Trp2452Ter)
c.6987del (p.Trp2329Ter)
 dbSNP

Number of alleles fetched