Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.112843197A=CA1573472362APCc.7657A= (p.Ser2553=)
c.*7609A= (n.*7609A=)
c.7549A= (p.Ser2517=)
c.7603A= (p.Ser2535=)
c.231-13452A=
c.7633A= (p.Ser2545=)
c.7528A= (p.Ser2510=)
c.7519A= (p.Ser2507=)
c.7480A= (p.Ser2494=)
c.7426A= (p.Ser2476=)
c.7330A= (p.Ser2444=)
c.7300A= (p.Ser2434=)
c.7225A= (p.Ser2409=)
c.7123A= (p.Ser2375=)
c.6754A= (p.Ser2252=)
5g.112843197A>CCA16037847APCc.7657A>C (p.Ser2553Arg)
c.*7609A>C (n.*7609A>C)
c.7549A>C (p.Ser2517Arg)
c.7603A>C (p.Ser2535Arg)
c.231-13452A>C
c.7633A>C (p.Ser2545Arg)
c.7528A>C (p.Ser2510Arg)
c.7519A>C (p.Ser2507Arg)
c.7480A>C (p.Ser2494Arg)
c.7426A>C (p.Ser2476Arg)
c.7330A>C (p.Ser2444Arg)
c.7300A>C (p.Ser2434Arg)
c.7225A>C (p.Ser2409Arg)
c.7123A>C (p.Ser2375Arg)
c.6754A>C (p.Ser2252Arg)
5g.112843197A>GCA16037848APCc.7657A>G (p.Ser2553Gly)
c.*7609A>G (n.*7609A>G)
c.7549A>G (p.Ser2517Gly)
c.7603A>G (p.Ser2535Gly)
c.231-13452A>G
c.7633A>G (p.Ser2545Gly)
c.7528A>G (p.Ser2510Gly)
c.7519A>G (p.Ser2507Gly)
c.7480A>G (p.Ser2494Gly)
c.7426A>G (p.Ser2476Gly)
c.7330A>G (p.Ser2444Gly)
c.7300A>G (p.Ser2434Gly)
c.7225A>G (p.Ser2409Gly)
c.7123A>G (p.Ser2375Gly)
c.6754A>G (p.Ser2252Gly)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112843197A>TCA16037849APCc.7657A>T (p.Ser2553Cys)
c.*7609A>T (n.*7609A>T)
c.7549A>T (p.Ser2517Cys)
c.7603A>T (p.Ser2535Cys)
c.231-13452A>T
c.7633A>T (p.Ser2545Cys)
c.7528A>T (p.Ser2510Cys)
c.7519A>T (p.Ser2507Cys)
c.7480A>T (p.Ser2494Cys)
c.7426A>T (p.Ser2476Cys)
c.7330A>T (p.Ser2444Cys)
c.7300A>T (p.Ser2434Cys)
c.7225A>T (p.Ser2409Cys)
c.7123A>T (p.Ser2375Cys)
c.6754A>T (p.Ser2252Cys)
dbSNP
5g.112843198G>ACA16037850APCc.7658G>A (p.Ser2553Asn)
c.*7610G>A (n.*7610G>A)
c.7550G>A (p.Ser2517Asn)
c.7604G>A (p.Ser2535Asn)
c.231-13451G>A
c.7634G>A (p.Ser2545Asn)
c.7529G>A (p.Ser2510Asn)
c.7520G>A (p.Ser2507Asn)
c.7481G>A (p.Ser2494Asn)
c.7427G>A (p.Ser2476Asn)
c.7331G>A (p.Ser2444Asn)
c.7301G>A (p.Ser2434Asn)
c.7226G>A (p.Ser2409Asn)
c.7124G>A (p.Ser2375Asn)
c.6755G>A (p.Ser2252Asn)
ClinVar dbSNP
5g.112843198G>CCA16037851APCc.7658G>C (p.Ser2553Thr)
c.*7610G>C (n.*7610G>C)
c.7550G>C (p.Ser2517Thr)
c.7604G>C (p.Ser2535Thr)
c.231-13451G>C
c.7634G>C (p.Ser2545Thr)
c.7529G>C (p.Ser2510Thr)
c.7520G>C (p.Ser2507Thr)
c.7481G>C (p.Ser2494Thr)
c.7427G>C (p.Ser2476Thr)
c.7331G>C (p.Ser2444Thr)
c.7301G>C (p.Ser2434Thr)
c.7226G>C (p.Ser2409Thr)
c.7124G>C (p.Ser2375Thr)
c.6755G>C (p.Ser2252Thr)
dbSNP
5g.112843198G=CA1573472374APCc.7658G= (p.Ser2553=)
c.*7610G= (n.*7610G=)
c.7550G= (p.Ser2517=)
c.7604G= (p.Ser2535=)
c.231-13451G=
c.7634G= (p.Ser2545=)
c.7529G= (p.Ser2510=)
c.7520G= (p.Ser2507=)
c.7481G= (p.Ser2494=)
c.7427G= (p.Ser2476=)
c.7331G= (p.Ser2444=)
c.7301G= (p.Ser2434=)
c.7226G= (p.Ser2409=)
c.7124G= (p.Ser2375=)
c.6755G= (p.Ser2252=)
5g.112843198G>TCA16037852APCc.7658G>T (p.Ser2553Ile)
c.*7610G>T (n.*7610G>T)
c.7550G>T (p.Ser2517Ile)
c.7604G>T (p.Ser2535Ile)
c.231-13451G>T
c.7634G>T (p.Ser2545Ile)
c.7529G>T (p.Ser2510Ile)
c.7520G>T (p.Ser2507Ile)
c.7481G>T (p.Ser2494Ile)
c.7427G>T (p.Ser2476Ile)
c.7331G>T (p.Ser2444Ile)
c.7301G>T (p.Ser2434Ile)
c.7226G>T (p.Ser2409Ile)
c.7124G>T (p.Ser2375Ile)
c.6755G>T (p.Ser2252Ile)
ClinVar dbSNP
5g.112843199T>ACA16037853APCc.7659T>A (p.Ser2553Arg)
c.*7611T>A (n.*7611T>A)
c.7551T>A (p.Ser2517Arg)
c.7605T>A (p.Ser2535Arg)
c.231-13450T>A
c.7635T>A (p.Ser2545Arg)
c.7530T>A (p.Ser2510Arg)
c.7521T>A (p.Ser2507Arg)
c.7482T>A (p.Ser2494Arg)
c.7428T>A (p.Ser2476Arg)
c.7332T>A (p.Ser2444Arg)
c.7302T>A (p.Ser2434Arg)
c.7227T>A (p.Ser2409Arg)
c.7125T>A (p.Ser2375Arg)
c.6756T>A (p.Ser2252Arg)
5g.112843199T>CCA446211080APCc.7659T>C (p.Ser2553=)
c.*7611T>C (n.*7611T>C)
c.7551T>C (p.Ser2517=)
c.7605T>C (p.Ser2535=)
c.231-13450T>C
c.7635T>C (p.Ser2545=)
c.7530T>C (p.Ser2510=)
c.7521T>C (p.Ser2507=)
c.7482T>C (p.Ser2494=)
c.7428T>C (p.Ser2476=)
c.7332T>C (p.Ser2444=)
c.7302T>C (p.Ser2434=)
c.7227T>C (p.Ser2409=)
c.7125T>C (p.Ser2375=)
c.6756T>C (p.Ser2252=)
5g.112843199T>GCA16037854APCc.7659T>G (p.Ser2553Arg)
c.*7611T>G (n.*7611T>G)
c.7551T>G (p.Ser2517Arg)
c.7605T>G (p.Ser2535Arg)
c.231-13450T>G
c.7635T>G (p.Ser2545Arg)
c.7530T>G (p.Ser2510Arg)
c.7521T>G (p.Ser2507Arg)
c.7482T>G (p.Ser2494Arg)
c.7428T>G (p.Ser2476Arg)
c.7332T>G (p.Ser2444Arg)
c.7302T>G (p.Ser2434Arg)
c.7227T>G (p.Ser2409Arg)
c.7125T>G (p.Ser2375Arg)
c.6756T>G (p.Ser2252Arg)
5g.112843200C>ACA16037855APCc.7660C>A (p.Pro2554Thr)
c.*7612C>A (n.*7612C>A)
c.7552C>A (p.Pro2518Thr)
c.7606C>A (p.Pro2536Thr)
c.231-13449C>A
c.7636C>A (p.Pro2546Thr)
c.7531C>A (p.Pro2511Thr)
c.7522C>A (p.Pro2508Thr)
c.7483C>A (p.Pro2495Thr)
c.7429C>A (p.Pro2477Thr)
c.7333C>A (p.Pro2445Thr)
c.7303C>A (p.Pro2435Thr)
c.7228C>A (p.Pro2410Thr)
c.7126C>A (p.Pro2376Thr)
c.6757C>A (p.Pro2253Thr)
ClinVar dbSNP COSMIC
5g.112843200C=CA1573472393APCc.7660C= (p.Pro2554=)
c.*7612C= (n.*7612C=)
c.7552C= (p.Pro2518=)
c.7606C= (p.Pro2536=)
c.231-13449C=
c.7636C= (p.Pro2546=)
c.7531C= (p.Pro2511=)
c.7522C= (p.Pro2508=)
c.7483C= (p.Pro2495=)
c.7429C= (p.Pro2477=)
c.7333C= (p.Pro2445=)
c.7303C= (p.Pro2435=)
c.7228C= (p.Pro2410=)
c.7126C= (p.Pro2376=)
c.6757C= (p.Pro2253=)
5g.112843200C>GCA16037856APCc.7660C>G (p.Pro2554Ala)
c.*7612C>G (n.*7612C>G)
c.7552C>G (p.Pro2518Ala)
c.7606C>G (p.Pro2536Ala)
c.231-13449C>G
c.7636C>G (p.Pro2546Ala)
c.7531C>G (p.Pro2511Ala)
c.7522C>G (p.Pro2508Ala)
c.7483C>G (p.Pro2495Ala)
c.7429C>G (p.Pro2477Ala)
c.7333C>G (p.Pro2445Ala)
c.7303C>G (p.Pro2435Ala)
c.7228C>G (p.Pro2410Ala)
c.7126C>G (p.Pro2376Ala)
c.6757C>G (p.Pro2253Ala)
dbSNP
5g.112843200C>TCA16037857APCc.7660C>T (p.Pro2554Ser)
c.*7612C>T (n.*7612C>T)
c.7552C>T (p.Pro2518Ser)
c.7606C>T (p.Pro2536Ser)
c.231-13449C>T
c.7636C>T (p.Pro2546Ser)
c.7531C>T (p.Pro2511Ser)
c.7522C>T (p.Pro2508Ser)
c.7483C>T (p.Pro2495Ser)
c.7429C>T (p.Pro2477Ser)
c.7333C>T (p.Pro2445Ser)
c.7303C>T (p.Pro2435Ser)
c.7228C>T (p.Pro2410Ser)
c.7126C>T (p.Pro2376Ser)
c.6757C>T (p.Pro2253Ser)
ClinVar dbSNP
5g.112843200_112843203delinsCCTTCA1573472394APCc.7660_7663delinsCCTT (p.Pro2554=)
c.*7612_*7615delinsCCTT (n.*7612_*7615delinsCCTT)
c.7552_7555delinsCCTT (p.Pro2518=)
c.7606_7609delinsCCTT (p.Pro2536=)
c.231-13449_231-13446delinsCCTT
c.7636_7639delinsCCTT (p.Pro2546=)
c.7531_7534delinsCCTT (p.Pro2511=)
c.7522_7525delinsCCTT (p.Pro2508=)
c.7483_7486delinsCCTT (p.Pro2495=)
c.7429_7432delinsCCTT (p.Pro2477=)
c.7333_7336delinsCCTT (p.Pro2445=)
c.7303_7306delinsCCTT (p.Pro2435=)
c.7228_7231delinsCCTT (p.Pro2410=)
c.7126_7129delinsCCTT (p.Pro2376=)
c.6757_6760delinsCCTT (p.Pro2253=)
5g.112843201C>ACA16037858APCc.7661C>A (p.Pro2554His)
c.*7613C>A (n.*7613C>A)
c.7553C>A (p.Pro2518His)
c.7607C>A (p.Pro2536His)
c.231-13448C>A
c.7637C>A (p.Pro2546His)
c.7532C>A (p.Pro2511His)
c.7523C>A (p.Pro2508His)
c.7484C>A (p.Pro2495His)
c.7430C>A (p.Pro2477His)
c.7334C>A (p.Pro2445His)
c.7304C>A (p.Pro2435His)
c.7229C>A (p.Pro2410His)
c.7127C>A (p.Pro2376His)
c.6758C>A (p.Pro2253His)
dbSNP gnomAD v4
5g.112843201C=CA1573472402APCc.7661C= (p.Pro2554=)
c.*7613C= (n.*7613C=)
c.7553C= (p.Pro2518=)
c.7607C= (p.Pro2536=)
c.231-13448C=
c.7637C= (p.Pro2546=)
c.7532C= (p.Pro2511=)
c.7523C= (p.Pro2508=)
c.7484C= (p.Pro2495=)
c.7430C= (p.Pro2477=)
c.7334C= (p.Pro2445=)
c.7304C= (p.Pro2435=)
c.7229C= (p.Pro2410=)
c.7127C= (p.Pro2376=)
c.6758C= (p.Pro2253=)
5g.112843201C>GCA16037859APCc.7661C>G (p.Pro2554Arg)
c.*7613C>G (n.*7613C>G)
c.7553C>G (p.Pro2518Arg)
c.7607C>G (p.Pro2536Arg)
c.231-13448C>G
c.7637C>G (p.Pro2546Arg)
c.7532C>G (p.Pro2511Arg)
c.7523C>G (p.Pro2508Arg)
c.7484C>G (p.Pro2495Arg)
c.7430C>G (p.Pro2477Arg)
c.7334C>G (p.Pro2445Arg)
c.7304C>G (p.Pro2435Arg)
c.7229C>G (p.Pro2410Arg)
c.7127C>G (p.Pro2376Arg)
c.6758C>G (p.Pro2253Arg)
dbSNP
5g.112843201C>TCA16037860APCc.7661C>T (p.Pro2554Leu)
c.*7613C>T (n.*7613C>T)
c.7553C>T (p.Pro2518Leu)
c.7607C>T (p.Pro2536Leu)
c.231-13448C>T
c.7637C>T (p.Pro2546Leu)
c.7532C>T (p.Pro2511Leu)
c.7523C>T (p.Pro2508Leu)
c.7484C>T (p.Pro2495Leu)
c.7430C>T (p.Pro2477Leu)
c.7334C>T (p.Pro2445Leu)
c.7304C>T (p.Pro2435Leu)
c.7229C>T (p.Pro2410Leu)
c.7127C>T (p.Pro2376Leu)
c.6758C>T (p.Pro2253Leu)
ClinVar dbSNP gnomAD v4
5g.112843203_112843205delCA048681APCc.7663_7665del (p.Ser2555del)
c.*7615_*7617del (n.*7615_*7617del)
c.7555_7557del (p.Ser2519del)
c.7609_7611del (p.Ser2537del)
c.231-13446_231-13444del
c.7639_7641del (p.Ser2547del)
c.7534_7536del (p.Ser2512del)
c.7525_7527del (p.Ser2509del)
c.7486_7488del (p.Ser2496del)
c.7432_7434del (p.Ser2478del)
c.7336_7338del (p.Ser2446del)
c.7306_7308del (p.Ser2436del)
c.7231_7233del (p.Ser2411del)
c.7129_7131del (p.Ser2377del)
c.6760_6762del (p.Ser2254del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112843202T>ACA446211081APCc.7662T>A (p.Pro2554=)
c.*7614T>A (n.*7614T>A)
c.7554T>A (p.Pro2518=)
c.7608T>A (p.Pro2536=)
c.231-13447T>A
c.7638T>A (p.Pro2546=)
c.7533T>A (p.Pro2511=)
c.7524T>A (p.Pro2508=)
c.7485T>A (p.Pro2495=)
c.7431T>A (p.Pro2477=)
c.7335T>A (p.Pro2445=)
c.7305T>A (p.Pro2435=)
c.7230T>A (p.Pro2410=)
c.7128T>A (p.Pro2376=)
c.6759T>A (p.Pro2253=)
5g.112843202T>CCA446211082APCc.7662T>C (p.Pro2554=)
c.*7614T>C (n.*7614T>C)
c.7554T>C (p.Pro2518=)
c.7608T>C (p.Pro2536=)
c.231-13447T>C
c.7638T>C (p.Pro2546=)
c.7533T>C (p.Pro2511=)
c.7524T>C (p.Pro2508=)
c.7485T>C (p.Pro2495=)
c.7431T>C (p.Pro2477=)
c.7335T>C (p.Pro2445=)
c.7305T>C (p.Pro2435=)
c.7230T>C (p.Pro2410=)
c.7128T>C (p.Pro2376=)
c.6759T>C (p.Pro2253=)
5g.112843202T>GCA446211083APCc.7662T>G (p.Pro2554=)
c.*7614T>G (n.*7614T>G)
c.7554T>G (p.Pro2518=)
c.7608T>G (p.Pro2536=)
c.231-13447T>G
c.7638T>G (p.Pro2546=)
c.7533T>G (p.Pro2511=)
c.7524T>G (p.Pro2508=)
c.7485T>G (p.Pro2495=)
c.7431T>G (p.Pro2477=)
c.7335T>G (p.Pro2445=)
c.7305T>G (p.Pro2435=)
c.7230T>G (p.Pro2410=)
c.7128T>G (p.Pro2376=)
c.6759T>G (p.Pro2253=)
5g.112843203T>ACA16037861APCc.7663T>A (p.Ser2555Thr)
c.*7615T>A (n.*7615T>A)
c.7555T>A (p.Ser2519Thr)
c.7609T>A (p.Ser2537Thr)
c.231-13446T>A
c.7639T>A (p.Ser2547Thr)
c.7534T>A (p.Ser2512Thr)
c.7525T>A (p.Ser2509Thr)
c.7486T>A (p.Ser2496Thr)
c.7432T>A (p.Ser2478Thr)
c.7336T>A (p.Ser2446Thr)
c.7306T>A (p.Ser2436Thr)
c.7231T>A (p.Ser2411Thr)
c.7129T>A (p.Ser2377Thr)
c.6760T>A (p.Ser2254Thr)
5g.112843203T>CCA16037862APCc.7663T>C (p.Ser2555Pro)
c.*7615T>C (n.*7615T>C)
c.7555T>C (p.Ser2519Pro)
c.7609T>C (p.Ser2537Pro)
c.231-13446T>C
c.7639T>C (p.Ser2547Pro)
c.7534T>C (p.Ser2512Pro)
c.7525T>C (p.Ser2509Pro)
c.7486T>C (p.Ser2496Pro)
c.7432T>C (p.Ser2478Pro)
c.7336T>C (p.Ser2446Pro)
c.7306T>C (p.Ser2436Pro)
c.7231T>C (p.Ser2411Pro)
c.7129T>C (p.Ser2377Pro)
c.6760T>C (p.Ser2254Pro)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112843203T>GCA16037863APCc.7663T>G (p.Ser2555Ala)
c.*7615T>G (n.*7615T>G)
c.7555T>G (p.Ser2519Ala)
c.7609T>G (p.Ser2537Ala)
c.231-13446T>G
c.7639T>G (p.Ser2547Ala)
c.7534T>G (p.Ser2512Ala)
c.7525T>G (p.Ser2509Ala)
c.7486T>G (p.Ser2496Ala)
c.7432T>G (p.Ser2478Ala)
c.7336T>G (p.Ser2446Ala)
c.7306T>G (p.Ser2436Ala)
c.7231T>G (p.Ser2411Ala)
c.7129T>G (p.Ser2377Ala)
c.6760T>G (p.Ser2254Ala)
5g.112843203T=CA1573472432APCc.7663T= (p.Ser2555=)
c.*7615T= (n.*7615T=)
c.7555T= (p.Ser2519=)
c.7609T= (p.Ser2537=)
c.231-13446T=
c.7639T= (p.Ser2547=)
c.7534T= (p.Ser2512=)
c.7525T= (p.Ser2509=)
c.7486T= (p.Ser2496=)
c.7432T= (p.Ser2478=)
c.7336T= (p.Ser2446=)
c.7306T= (p.Ser2436=)
c.7231T= (p.Ser2411=)
c.7129T= (p.Ser2377=)
c.6760T= (p.Ser2254=)
5g.112843204C>ACA16037864APCc.7664C>A (p.Ser2555Tyr)
c.*7616C>A (n.*7616C>A)
c.7556C>A (p.Ser2519Tyr)
c.7610C>A (p.Ser2537Tyr)
c.231-13445C>A
c.7640C>A (p.Ser2547Tyr)
c.7535C>A (p.Ser2512Tyr)
c.7526C>A (p.Ser2509Tyr)
c.7487C>A (p.Ser2496Tyr)
c.7433C>A (p.Ser2478Tyr)
c.7337C>A (p.Ser2446Tyr)
c.7307C>A (p.Ser2436Tyr)
c.7232C>A (p.Ser2411Tyr)
c.7130C>A (p.Ser2377Tyr)
c.6761C>A (p.Ser2254Tyr)
dbSNP
5g.112843204C=CA1573472434APCc.7664C= (p.Ser2555=)
c.*7616C= (n.*7616C=)
c.7556C= (p.Ser2519=)
c.7610C= (p.Ser2537=)
c.231-13445C=
c.7640C= (p.Ser2547=)
c.7535C= (p.Ser2512=)
c.7526C= (p.Ser2509=)
c.7487C= (p.Ser2496=)
c.7433C= (p.Ser2478=)
c.7337C= (p.Ser2446=)
c.7307C= (p.Ser2436=)
c.7232C= (p.Ser2411=)
c.7130C= (p.Ser2377=)
c.6761C= (p.Ser2254=)
5g.112843204C>GCA013935APCc.7664C>G (p.Ser2555Cys)
c.*7616C>G (n.*7616C>G)
c.7556C>G (p.Ser2519Cys)
c.7610C>G (p.Ser2537Cys)
c.231-13445C>G
c.7640C>G (p.Ser2547Cys)
c.7535C>G (p.Ser2512Cys)
c.7526C>G (p.Ser2509Cys)
c.7487C>G (p.Ser2496Cys)
c.7433C>G (p.Ser2478Cys)
c.7337C>G (p.Ser2446Cys)
c.7307C>G (p.Ser2436Cys)
c.7232C>G (p.Ser2411Cys)
c.7130C>G (p.Ser2377Cys)
c.6761C>G (p.Ser2254Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112843204C>TCA16037865APCc.7664C>T (p.Ser2555Phe)
c.*7616C>T (n.*7616C>T)
c.7556C>T (p.Ser2519Phe)
c.7610C>T (p.Ser2537Phe)
c.231-13445C>T
c.7640C>T (p.Ser2547Phe)
c.7535C>T (p.Ser2512Phe)
c.7526C>T (p.Ser2509Phe)
c.7487C>T (p.Ser2496Phe)
c.7433C>T (p.Ser2478Phe)
c.7337C>T (p.Ser2446Phe)
c.7307C>T (p.Ser2436Phe)
c.7232C>T (p.Ser2411Phe)
c.7130C>T (p.Ser2377Phe)
c.6761C>T (p.Ser2254Phe)
ClinVar dbSNP
5g.112843205T>ACA446211084APCc.7665T>A (p.Ser2555=)
c.*7617T>A (n.*7617T>A)
c.7557T>A (p.Ser2519=)
c.7611T>A (p.Ser2537=)
c.231-13444T>A
c.7641T>A (p.Ser2547=)
c.7536T>A (p.Ser2512=)
c.7527T>A (p.Ser2509=)
c.7488T>A (p.Ser2496=)
c.7434T>A (p.Ser2478=)
c.7338T>A (p.Ser2446=)
c.7308T>A (p.Ser2436=)
c.7233T>A (p.Ser2411=)
c.7131T>A (p.Ser2377=)
c.6762T>A (p.Ser2254=)
dbSNP
5g.112843205T>CCA446211086APCc.7665T>C (p.Ser2555=)
c.*7617T>C (n.*7617T>C)
c.7557T>C (p.Ser2519=)
c.7611T>C (p.Ser2537=)
c.231-13444T>C
c.7641T>C (p.Ser2547=)
c.7536T>C (p.Ser2512=)
c.7527T>C (p.Ser2509=)
c.7488T>C (p.Ser2496=)
c.7434T>C (p.Ser2478=)
c.7338T>C (p.Ser2446=)
c.7308T>C (p.Ser2436=)
c.7233T>C (p.Ser2411=)
c.7131T>C (p.Ser2377=)
c.6762T>C (p.Ser2254=)
dbSNP
5g.112843205T>GCA446211085APCc.7665T>G (p.Ser2555=)
c.*7617T>G (n.*7617T>G)
c.7557T>G (p.Ser2519=)
c.7611T>G (p.Ser2537=)
c.231-13444T>G
c.7641T>G (p.Ser2547=)
c.7536T>G (p.Ser2512=)
c.7527T>G (p.Ser2509=)
c.7488T>G (p.Ser2496=)
c.7434T>G (p.Ser2478=)
c.7338T>G (p.Ser2446=)
c.7308T>G (p.Ser2436=)
c.7233T>G (p.Ser2411=)
c.7131T>G (p.Ser2377=)
c.6762T>G (p.Ser2254=)
5g.112843206A=CA1573472440APCc.7666A= (p.Arg2556=)
c.*7618A= (n.*7618A=)
c.7558A= (p.Arg2520=)
c.7612A= (p.Arg2538=)
c.231-13443A=
c.7642A= (p.Arg2548=)
c.7537A= (p.Arg2513=)
c.7528A= (p.Arg2510=)
c.7489A= (p.Arg2497=)
c.7435A= (p.Arg2479=)
c.7339A= (p.Arg2447=)
c.7309A= (p.Arg2437=)
c.7234A= (p.Arg2412=)
c.7132A= (p.Arg2378=)
c.6763A= (p.Arg2255=)
5g.112843206A>CCA446211087APCc.7666A>C (p.Arg2556=)
c.*7618A>C (n.*7618A>C)
c.7558A>C (p.Arg2520=)
c.7612A>C (p.Arg2538=)
c.231-13443A>C
c.7642A>C (p.Arg2548=)
c.7537A>C (p.Arg2513=)
c.7528A>C (p.Arg2510=)
c.7489A>C (p.Arg2497=)
c.7435A>C (p.Arg2479=)
c.7339A>C (p.Arg2447=)
c.7309A>C (p.Arg2437=)
c.7234A>C (p.Arg2412=)
c.7132A>C (p.Arg2378=)
c.6763A>C (p.Arg2255=)
ClinVar
5g.112843206A>GCA16037866APCc.7666A>G (p.Arg2556Gly)
c.*7618A>G (n.*7618A>G)
c.7558A>G (p.Arg2520Gly)
c.7612A>G (p.Arg2538Gly)
c.231-13443A>G
c.7642A>G (p.Arg2548Gly)
c.7537A>G (p.Arg2513Gly)
c.7528A>G (p.Arg2510Gly)
c.7489A>G (p.Arg2497Gly)
c.7435A>G (p.Arg2479Gly)
c.7339A>G (p.Arg2447Gly)
c.7309A>G (p.Arg2437Gly)
c.7234A>G (p.Arg2412Gly)
c.7132A>G (p.Arg2378Gly)
c.6763A>G (p.Arg2255Gly)
ClinVar dbSNP gnomAD v4
5g.112843206A>TCA16037867APCc.7666A>T (p.Arg2556Ter)
c.*7618A>T (n.*7618A>T)
c.7558A>T (p.Arg2520Ter)
c.7612A>T (p.Arg2538Ter)
c.231-13443A>T
c.7642A>T (p.Arg2548Ter)
c.7537A>T (p.Arg2513Ter)
c.7528A>T (p.Arg2510Ter)
c.7489A>T (p.Arg2497Ter)
c.7435A>T (p.Arg2479Ter)
c.7339A>T (p.Arg2447Ter)
c.7309A>T (p.Arg2437Ter)
c.7234A>T (p.Arg2412Ter)
c.7132A>T (p.Arg2378Ter)
c.6763A>T (p.Arg2255Ter)
ClinVar dbSNP
5g.112843206_112843207insTCAATAGGTCTATCAAAACA2697546405APCc.7666_7667insTCAATAGGTCTATCAAAA (p.Ser2555_Arg2556insIleAsnArgSerIleLys)
c.*7618_*7619insTCAATAGGTCTATCAAAA (n.*7618_*7619insTCAATAGGTCTATCAAAA)
c.7558_7559insTCAATAGGTCTATCAAAA (p.Ser2519_Arg2520insIleAsnArgSerIleLys)
c.7612_7613insTCAATAGGTCTATCAAAA (p.Ser2537_Arg2538insIleAsnArgSerIleLys)
c.231-13443_231-13442insTCAATAGGTCTATCAAAA
c.7642_7643insTCAATAGGTCTATCAAAA (p.Ser2547_Arg2548insIleAsnArgSerIleLys)
c.7537_7538insTCAATAGGTCTATCAAAA (p.Ser2512_Arg2513insIleAsnArgSerIleLys)
c.7528_7529insTCAATAGGTCTATCAAAA (p.Ser2509_Arg2510insIleAsnArgSerIleLys)
c.7489_7490insTCAATAGGTCTATCAAAA (p.Ser2496_Arg2497insIleAsnArgSerIleLys)
c.7435_7436insTCAATAGGTCTATCAAAA (p.Ser2478_Arg2479insIleAsnArgSerIleLys)
c.7339_7340insTCAATAGGTCTATCAAAA (p.Ser2446_Arg2447insIleAsnArgSerIleLys)
c.7309_7310insTCAATAGGTCTATCAAAA (p.Ser2436_Arg2437insIleAsnArgSerIleLys)
c.7234_7235insTCAATAGGTCTATCAAAA (p.Ser2411_Arg2412insIleAsnArgSerIleLys)
c.7132_7133insTCAATAGGTCTATCAAAA (p.Ser2377_Arg2378insIleAsnArgSerIleLys)
c.6763_6764insTCAATAGGTCTATCAAAA (p.Ser2254_Arg2255insIleAsnArgSerIleLys)
ClinVar
5g.112843207G>ACA16037868APCc.7667G>A (p.Arg2556Lys)
c.*7619G>A (n.*7619G>A)
c.7559G>A (p.Arg2520Lys)
c.7613G>A (p.Arg2538Lys)
c.231-13442G>A
c.7643G>A (p.Arg2548Lys)
c.7538G>A (p.Arg2513Lys)
c.7529G>A (p.Arg2510Lys)
c.7490G>A (p.Arg2497Lys)
c.7436G>A (p.Arg2479Lys)
c.7340G>A (p.Arg2447Lys)
c.7310G>A (p.Arg2437Lys)
c.7235G>A (p.Arg2412Lys)
c.7133G>A (p.Arg2378Lys)
c.6764G>A (p.Arg2255Lys)
dbSNP
5g.112843207G>CCA16037869APCc.7667G>C (p.Arg2556Thr)
c.*7619G>C (n.*7619G>C)
c.7559G>C (p.Arg2520Thr)
c.7613G>C (p.Arg2538Thr)
c.231-13442G>C
c.7643G>C (p.Arg2548Thr)
c.7538G>C (p.Arg2513Thr)
c.7529G>C (p.Arg2510Thr)
c.7490G>C (p.Arg2497Thr)
c.7436G>C (p.Arg2479Thr)
c.7340G>C (p.Arg2447Thr)
c.7310G>C (p.Arg2437Thr)
c.7235G>C (p.Arg2412Thr)
c.7133G>C (p.Arg2378Thr)
c.6764G>C (p.Arg2255Thr)
dbSNP
5g.112843207G>TCA16037870APCc.7667G>T (p.Arg2556Ile)
c.*7619G>T (n.*7619G>T)
c.7559G>T (p.Arg2520Ile)
c.7613G>T (p.Arg2538Ile)
c.231-13442G>T
c.7643G>T (p.Arg2548Ile)
c.7538G>T (p.Arg2513Ile)
c.7529G>T (p.Arg2510Ile)
c.7490G>T (p.Arg2497Ile)
c.7436G>T (p.Arg2479Ile)
c.7340G>T (p.Arg2447Ile)
c.7310G>T (p.Arg2437Ile)
c.7235G>T (p.Arg2412Ile)
c.7133G>T (p.Arg2378Ile)
c.6764G>T (p.Arg2255Ile)
ClinVar
5g.112843208A=CA1573472443APCc.7668A= (p.Arg2556=)
c.*7620A= (n.*7620A=)
c.7560A= (p.Arg2520=)
c.7614A= (p.Arg2538=)
c.231-13441A=
c.7644A= (p.Arg2548=)
c.7539A= (p.Arg2513=)
c.7530A= (p.Arg2510=)
c.7491A= (p.Arg2497=)
c.7437A= (p.Arg2479=)
c.7341A= (p.Arg2447=)
c.7311A= (p.Arg2437=)
c.7236A= (p.Arg2412=)
c.7134A= (p.Arg2378=)
c.6765A= (p.Arg2255=)
5g.112843208A>CCA16037871APCc.7668A>C (p.Arg2556Ser)
c.*7620A>C (n.*7620A>C)
c.7560A>C (p.Arg2520Ser)
c.7614A>C (p.Arg2538Ser)
c.231-13441A>C
c.7644A>C (p.Arg2548Ser)
c.7539A>C (p.Arg2513Ser)
c.7530A>C (p.Arg2510Ser)
c.7491A>C (p.Arg2497Ser)
c.7437A>C (p.Arg2479Ser)
c.7341A>C (p.Arg2447Ser)
c.7311A>C (p.Arg2437Ser)
c.7236A>C (p.Arg2412Ser)
c.7134A>C (p.Arg2378Ser)
c.6765A>C (p.Arg2255Ser)
dbSNP
5g.112843208A>GCA446211088APCc.7668A>G (p.Arg2556=)
c.*7620A>G (n.*7620A>G)
c.7560A>G (p.Arg2520=)
c.7614A>G (p.Arg2538=)
c.231-13441A>G
c.7644A>G (p.Arg2548=)
c.7539A>G (p.Arg2513=)
c.7530A>G (p.Arg2510=)
c.7491A>G (p.Arg2497=)
c.7437A>G (p.Arg2479=)
c.7341A>G (p.Arg2447=)
c.7311A>G (p.Arg2437=)
c.7236A>G (p.Arg2412=)
c.7134A>G (p.Arg2378=)
c.6765A>G (p.Arg2255=)
dbSNP
5g.112843208A>TCA16037872APCc.7668A>T (p.Arg2556Ser)
c.*7620A>T (n.*7620A>T)
c.7560A>T (p.Arg2520Ser)
c.7614A>T (p.Arg2538Ser)
c.231-13441A>T
c.7644A>T (p.Arg2548Ser)
c.7539A>T (p.Arg2513Ser)
c.7530A>T (p.Arg2510Ser)
c.7491A>T (p.Arg2497Ser)
c.7437A>T (p.Arg2479Ser)
c.7341A>T (p.Arg2447Ser)
c.7311A>T (p.Arg2437Ser)
c.7236A>T (p.Arg2412Ser)
c.7134A>T (p.Arg2378Ser)
c.6765A>T (p.Arg2255Ser)
dbSNP
5g.112843209C>ACA16037873APCc.7669C>A (p.Leu2557Ile)
c.*7621C>A (n.*7621C>A)
c.7561C>A (p.Leu2521Ile)
c.7615C>A (p.Leu2539Ile)
c.231-13440C>A
c.7645C>A (p.Leu2549Ile)
c.7540C>A (p.Leu2514Ile)
c.7531C>A (p.Leu2511Ile)
c.7492C>A (p.Leu2498Ile)
c.7438C>A (p.Leu2480Ile)
c.7342C>A (p.Leu2448Ile)
c.7312C>A (p.Leu2438Ile)
c.7237C>A (p.Leu2413Ile)
c.7135C>A (p.Leu2379Ile)
c.6766C>A (p.Leu2256Ile)
dbSNP
5g.112843209C=CA1573472447APCc.7669C= (p.Leu2557=)
c.*7621C= (n.*7621C=)
c.7561C= (p.Leu2521=)
c.7615C= (p.Leu2539=)
c.231-13440C=
c.7645C= (p.Leu2549=)
c.7540C= (p.Leu2514=)
c.7531C= (p.Leu2511=)
c.7492C= (p.Leu2498=)
c.7438C= (p.Leu2480=)
c.7342C= (p.Leu2448=)
c.7312C= (p.Leu2438=)
c.7237C= (p.Leu2413=)
c.7135C= (p.Leu2379=)
c.6766C= (p.Leu2256=)
5g.112843209C>GCA16037874APCc.7669C>G (p.Leu2557Val)
c.*7621C>G (n.*7621C>G)
c.7561C>G (p.Leu2521Val)
c.7615C>G (p.Leu2539Val)
c.231-13440C>G
c.7645C>G (p.Leu2549Val)
c.7540C>G (p.Leu2514Val)
c.7531C>G (p.Leu2511Val)
c.7492C>G (p.Leu2498Val)
c.7438C>G (p.Leu2480Val)
c.7342C>G (p.Leu2448Val)
c.7312C>G (p.Leu2438Val)
c.7237C>G (p.Leu2413Val)
c.7135C>G (p.Leu2379Val)
c.6766C>G (p.Leu2256Val)
dbSNP
5g.112843209C>TCA10578447APCc.7669C>T (p.Leu2557Phe)
c.*7621C>T (n.*7621C>T)
c.7561C>T (p.Leu2521Phe)
c.7615C>T (p.Leu2539Phe)
c.231-13440C>T
c.7645C>T (p.Leu2549Phe)
c.7540C>T (p.Leu2514Phe)
c.7531C>T (p.Leu2511Phe)
c.7492C>T (p.Leu2498Phe)
c.7438C>T (p.Leu2480Phe)
c.7342C>T (p.Leu2448Phe)
c.7312C>T (p.Leu2438Phe)
c.7237C>T (p.Leu2413Phe)
c.7135C>T (p.Leu2379Phe)
c.6766C>T (p.Leu2256Phe)
ClinVar dbSNP gnomAD v4
5g.112843210T>ACA16037875APCc.7670T>A (p.Leu2557His)
c.*7622T>A (n.*7622T>A)
c.7562T>A (p.Leu2521His)
c.7616T>A (p.Leu2539His)
c.231-13439T>A
c.7646T>A (p.Leu2549His)
c.7541T>A (p.Leu2514His)
c.7532T>A (p.Leu2511His)
c.7493T>A (p.Leu2498His)
c.7439T>A (p.Leu2480His)
c.7343T>A (p.Leu2448His)
c.7313T>A (p.Leu2438His)
c.7238T>A (p.Leu2413His)
c.7136T>A (p.Leu2379His)
c.6767T>A (p.Leu2256His)
ClinVar dbSNP gnomAD v4
5g.112843210T>CCA16037876APCc.7670T>C (p.Leu2557Pro)
c.*7622T>C (n.*7622T>C)
c.7562T>C (p.Leu2521Pro)
c.7616T>C (p.Leu2539Pro)
c.231-13439T>C
c.7646T>C (p.Leu2549Pro)
c.7541T>C (p.Leu2514Pro)
c.7532T>C (p.Leu2511Pro)
c.7493T>C (p.Leu2498Pro)
c.7439T>C (p.Leu2480Pro)
c.7343T>C (p.Leu2448Pro)
c.7313T>C (p.Leu2438Pro)
c.7238T>C (p.Leu2413Pro)
c.7136T>C (p.Leu2379Pro)
c.6767T>C (p.Leu2256Pro)
dbSNP
5g.112843210T>GCA16037877APCc.7670T>G (p.Leu2557Arg)
c.*7622T>G (n.*7622T>G)
c.7562T>G (p.Leu2521Arg)
c.7616T>G (p.Leu2539Arg)
c.231-13439T>G
c.7646T>G (p.Leu2549Arg)
c.7541T>G (p.Leu2514Arg)
c.7532T>G (p.Leu2511Arg)
c.7493T>G (p.Leu2498Arg)
c.7439T>G (p.Leu2480Arg)
c.7343T>G (p.Leu2448Arg)
c.7313T>G (p.Leu2438Arg)
c.7238T>G (p.Leu2413Arg)
c.7136T>G (p.Leu2379Arg)
c.6767T>G (p.Leu2256Arg)
dbSNP
5g.112843210T=CA1573472458APCc.7670T= (p.Leu2557=)
c.*7622T= (n.*7622T=)
c.7562T= (p.Leu2521=)
c.7616T= (p.Leu2539=)
c.231-13439T=
c.7646T= (p.Leu2549=)
c.7541T= (p.Leu2514=)
c.7532T= (p.Leu2511=)
c.7493T= (p.Leu2498=)
c.7439T= (p.Leu2480=)
c.7343T= (p.Leu2448=)
c.7313T= (p.Leu2438=)
c.7238T= (p.Leu2413=)
c.7136T= (p.Leu2379=)
c.6767T= (p.Leu2256=)
5g.112843210_112843215delinsTTCCAACA1573472464APCc.7670_7675delinsTTCCAA (p.Leu2557=)
c.*7622_*7627delinsTTCCAA (n.*7622_*7627delinsTTCCAA)
c.7562_7567delinsTTCCAA (p.Leu2521=)
c.7616_7621delinsTTCCAA (p.Leu2539=)
c.231-13439_231-13434delinsTTCCAA
c.7646_7651delinsTTCCAA (p.Leu2549=)
c.7541_7546delinsTTCCAA (p.Leu2514=)
c.7532_7537delinsTTCCAA (p.Leu2511=)
c.7493_7498delinsTTCCAA (p.Leu2498=)
c.7439_7444delinsTTCCAA (p.Leu2480=)
c.7343_7348delinsTTCCAA (p.Leu2448=)
c.7313_7318delinsTTCCAA (p.Leu2438=)
c.7238_7243delinsTTCCAA (p.Leu2413=)
c.7136_7141delinsTTCCAA (p.Leu2379=)
c.6767_6772delinsTTCCAA (p.Leu2256=)
5g.112843211T>ACA446211089APCc.7671T>A (p.Leu2557=)
c.*7623T>A (n.*7623T>A)
c.7563T>A (p.Leu2521=)
c.7617T>A (p.Leu2539=)
c.231-13438T>A
c.7647T>A (p.Leu2549=)
c.7542T>A (p.Leu2514=)
c.7533T>A (p.Leu2511=)
c.7494T>A (p.Leu2498=)
c.7440T>A (p.Leu2480=)
c.7344T>A (p.Leu2448=)
c.7314T>A (p.Leu2438=)
c.7239T>A (p.Leu2413=)
c.7137T>A (p.Leu2379=)
c.6768T>A (p.Leu2256=)
5g.112843211T>CCA446211090APCc.7671T>C (p.Leu2557=)
c.*7623T>C (n.*7623T>C)
c.7563T>C (p.Leu2521=)
c.7617T>C (p.Leu2539=)
c.231-13438T>C
c.7647T>C (p.Leu2549=)
c.7542T>C (p.Leu2514=)
c.7533T>C (p.Leu2511=)
c.7494T>C (p.Leu2498=)
c.7440T>C (p.Leu2480=)
c.7344T>C (p.Leu2448=)
c.7314T>C (p.Leu2438=)
c.7239T>C (p.Leu2413=)
c.7137T>C (p.Leu2379=)
c.6768T>C (p.Leu2256=)
5g.112843211T>GCA446211091APCc.7671T>G (p.Leu2557=)
c.*7623T>G (n.*7623T>G)
c.7563T>G (p.Leu2521=)
c.7617T>G (p.Leu2539=)
c.231-13438T>G
c.7647T>G (p.Leu2549=)
c.7542T>G (p.Leu2514=)
c.7533T>G (p.Leu2511=)
c.7494T>G (p.Leu2498=)
c.7440T>G (p.Leu2480=)
c.7344T>G (p.Leu2448=)
c.7314T>G (p.Leu2438=)
c.7239T>G (p.Leu2413=)
c.7137T>G (p.Leu2379=)
c.6768T>G (p.Leu2256=)
5g.112843211_112843212delinsTCCA1573472467APCc.7671_7672delinsTC (p.Leu2557=)
c.*7623_*7624delinsTC (n.*7623_*7624delinsTC)
c.7563_7564delinsTC (p.Leu2521=)
c.7617_7618delinsTC (p.Leu2539=)
c.231-13438_231-13437delinsTC
c.7647_7648delinsTC (p.Leu2549=)
c.7542_7543delinsTC (p.Leu2514=)
c.7533_7534delinsTC (p.Leu2511=)
c.7494_7495delinsTC (p.Leu2498=)
c.7440_7441delinsTC (p.Leu2480=)
c.7344_7345delinsTC (p.Leu2448=)
c.7314_7315delinsTC (p.Leu2438=)
c.7239_7240delinsTC (p.Leu2413=)
c.7137_7138delinsTC (p.Leu2379=)
c.6768_6769delinsTC (p.Leu2256=)
5g.112843213_112843217delCA915943524APCc.7673_7677del (p.Pro2558GlnfsTer2)
c.*7625_*7629del (n.*7625_*7629del)
c.7565_7569del (p.Pro2522GlnfsTer2)
c.7619_7623del (p.Pro2540GlnfsTer2)
c.231-13436_231-13432del
c.7649_7653del (p.Pro2550GlnfsTer2)
c.7544_7548del (p.Pro2515GlnfsTer2)
c.7535_7539del (p.Pro2512GlnfsTer2)
c.7496_7500del (p.Pro2499GlnfsTer2)
c.7442_7446del (p.Pro2481GlnfsTer2)
c.7346_7350del (p.Pro2449GlnfsTer2)
c.7316_7320del (p.Pro2439GlnfsTer2)
c.7241_7245del (p.Pro2414GlnfsTer2)
c.7139_7143del (p.Pro2380GlnfsTer2)
c.6770_6774del (p.Pro2257GlnfsTer2)
ClinVar dbSNP
5g.112843212C>ACA16037878APCc.7672C>A (p.Pro2558Thr)
c.*7624C>A (n.*7624C>A)
c.7564C>A (p.Pro2522Thr)
c.7618C>A (p.Pro2540Thr)
c.231-13437C>A
c.7648C>A (p.Pro2550Thr)
c.7543C>A (p.Pro2515Thr)
c.7534C>A (p.Pro2512Thr)
c.7495C>A (p.Pro2499Thr)
c.7441C>A (p.Pro2481Thr)
c.7345C>A (p.Pro2449Thr)
c.7315C>A (p.Pro2439Thr)
c.7240C>A (p.Pro2414Thr)
c.7138C>A (p.Pro2380Thr)
c.6769C>A (p.Pro2257Thr)
dbSNP
5g.112843212C=CA1573472480APCc.7672C= (p.Pro2558=)
c.*7624C= (n.*7624C=)
c.7564C= (p.Pro2522=)
c.7618C= (p.Pro2540=)
c.231-13437C=
c.7648C= (p.Pro2550=)
c.7543C= (p.Pro2515=)
c.7534C= (p.Pro2512=)
c.7495C= (p.Pro2499=)
c.7441C= (p.Pro2481=)
c.7345C= (p.Pro2449=)
c.7315C= (p.Pro2439=)
c.7240C= (p.Pro2414=)
c.7138C= (p.Pro2380=)
c.6769C= (p.Pro2257=)
5g.112843212C>GCA16037879APCc.7672C>G (p.Pro2558Ala)
c.*7624C>G (n.*7624C>G)
c.7564C>G (p.Pro2522Ala)
c.7618C>G (p.Pro2540Ala)
c.231-13437C>G
c.7648C>G (p.Pro2550Ala)
c.7543C>G (p.Pro2515Ala)
c.7534C>G (p.Pro2512Ala)
c.7495C>G (p.Pro2499Ala)
c.7441C>G (p.Pro2481Ala)
c.7345C>G (p.Pro2449Ala)
c.7315C>G (p.Pro2439Ala)
c.7240C>G (p.Pro2414Ala)
c.7138C>G (p.Pro2380Ala)
c.6769C>G (p.Pro2257Ala)
ClinVar dbSNP gnomAD v4
5g.112843212C>TCA16037880APCc.7672C>T (p.Pro2558Ser)
c.*7624C>T (n.*7624C>T)
c.7564C>T (p.Pro2522Ser)
c.7618C>T (p.Pro2540Ser)
c.231-13437C>T
c.7648C>T (p.Pro2550Ser)
c.7543C>T (p.Pro2515Ser)
c.7534C>T (p.Pro2512Ser)
c.7495C>T (p.Pro2499Ser)
c.7441C>T (p.Pro2481Ser)
c.7345C>T (p.Pro2449Ser)
c.7315C>T (p.Pro2439Ser)
c.7240C>T (p.Pro2414Ser)
c.7138C>T (p.Pro2380Ser)
c.6769C>T (p.Pro2257Ser)
dbSNP COSMIC
5g.112843213delCA802027786APCc.7673del (p.Pro2558GlnfsTer22)
c.*7625del (n.*7625del)
c.7565del (p.Pro2522GlnfsTer22)
c.7619del (p.Pro2540GlnfsTer22)
c.231-13436del
c.7649del (p.Pro2550GlnfsTer22)
c.7544del (p.Pro2515GlnfsTer22)
c.7535del (p.Pro2512GlnfsTer22)
c.7496del (p.Pro2499GlnfsTer22)
c.7442del (p.Pro2481GlnfsTer22)
c.7346del (p.Pro2449GlnfsTer22)
c.7316del (p.Pro2439GlnfsTer22)
c.7241del (p.Pro2414GlnfsTer22)
c.7139del (p.Pro2380GlnfsTer22)
c.6770del (p.Pro2257GlnfsTer22)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112843213C>ACA048722APCc.7673C>A (p.Pro2558Gln)
c.*7625C>A (n.*7625C>A)
c.7565C>A (p.Pro2522Gln)
c.7619C>A (p.Pro2540Gln)
c.231-13436C>A
c.7649C>A (p.Pro2550Gln)
c.7544C>A (p.Pro2515Gln)
c.7535C>A (p.Pro2512Gln)
c.7496C>A (p.Pro2499Gln)
c.7442C>A (p.Pro2481Gln)
c.7346C>A (p.Pro2449Gln)
c.7316C>A (p.Pro2439Gln)
c.7241C>A (p.Pro2414Gln)
c.7139C>A (p.Pro2380Gln)
c.6770C>A (p.Pro2257Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112843213C=CA1573472499APCc.7673C= (p.Pro2558=)
c.*7625C= (n.*7625C=)
c.7565C= (p.Pro2522=)
c.7619C= (p.Pro2540=)
c.231-13436C=
c.7649C= (p.Pro2550=)
c.7544C= (p.Pro2515=)
c.7535C= (p.Pro2512=)
c.7496C= (p.Pro2499=)
c.7442C= (p.Pro2481=)
c.7346C= (p.Pro2449=)
c.7316C= (p.Pro2439=)
c.7241C= (p.Pro2414=)
c.7139C= (p.Pro2380=)
c.6770C= (p.Pro2257=)
5g.112843213C>GCA16037881APCc.7673C>G (p.Pro2558Arg)
c.*7625C>G (n.*7625C>G)
c.7565C>G (p.Pro2522Arg)
c.7619C>G (p.Pro2540Arg)
c.231-13436C>G
c.7649C>G (p.Pro2550Arg)
c.7544C>G (p.Pro2515Arg)
c.7535C>G (p.Pro2512Arg)
c.7496C>G (p.Pro2499Arg)
c.7442C>G (p.Pro2481Arg)
c.7346C>G (p.Pro2449Arg)
c.7316C>G (p.Pro2439Arg)
c.7241C>G (p.Pro2414Arg)
c.7139C>G (p.Pro2380Arg)
c.6770C>G (p.Pro2257Arg)
dbSNP
5g.112843213C>TCA16037882APCc.7673C>T (p.Pro2558Leu)
c.*7625C>T (n.*7625C>T)
c.7565C>T (p.Pro2522Leu)
c.7619C>T (p.Pro2540Leu)
c.231-13436C>T
c.7649C>T (p.Pro2550Leu)
c.7544C>T (p.Pro2515Leu)
c.7535C>T (p.Pro2512Leu)
c.7496C>T (p.Pro2499Leu)
c.7442C>T (p.Pro2481Leu)
c.7346C>T (p.Pro2449Leu)
c.7316C>T (p.Pro2439Leu)
c.7241C>T (p.Pro2414Leu)
c.7139C>T (p.Pro2380Leu)
c.6770C>T (p.Pro2257Leu)
ClinVar dbSNP gnomAD v4
5g.112843214A>CCA446211093APCc.7674A>C (p.Pro2558=)
c.*7626A>C (n.*7626A>C)
c.7566A>C (p.Pro2522=)
c.7620A>C (p.Pro2540=)
c.231-13435A>C
c.7650A>C (p.Pro2550=)
c.7545A>C (p.Pro2515=)
c.7536A>C (p.Pro2512=)
c.7497A>C (p.Pro2499=)
c.7443A>C (p.Pro2481=)
c.7347A>C (p.Pro2449=)
c.7317A>C (p.Pro2439=)
c.7242A>C (p.Pro2414=)
c.7140A>C (p.Pro2380=)
c.6771A>C (p.Pro2257=)
ClinVar
5g.112843214A>GCA446211094APCc.7674A>G (p.Pro2558=)
c.*7626A>G (n.*7626A>G)
c.7566A>G (p.Pro2522=)
c.7620A>G (p.Pro2540=)
c.231-13435A>G
c.7650A>G (p.Pro2550=)
c.7545A>G (p.Pro2515=)
c.7536A>G (p.Pro2512=)
c.7497A>G (p.Pro2499=)
c.7443A>G (p.Pro2481=)
c.7347A>G (p.Pro2449=)
c.7317A>G (p.Pro2439=)
c.7242A>G (p.Pro2414=)
c.7140A>G (p.Pro2380=)
c.6771A>G (p.Pro2257=)
5g.112843214A>TCA446211092APCc.7674A>T (p.Pro2558=)
c.*7626A>T (n.*7626A>T)
c.7566A>T (p.Pro2522=)
c.7620A>T (p.Pro2540=)
c.231-13435A>T
c.7650A>T (p.Pro2550=)
c.7545A>T (p.Pro2515=)
c.7536A>T (p.Pro2512=)
c.7497A>T (p.Pro2499=)
c.7443A>T (p.Pro2481=)
c.7347A>T (p.Pro2449=)
c.7317A>T (p.Pro2439=)
c.7242A>T (p.Pro2414=)
c.7140A>T (p.Pro2380=)
c.6771A>T (p.Pro2257=)
dbSNP
5g.112843215_112843219delCA2573138676APCc.7675_7679del (p.Ile2559Ter)
c.*7627_*7631del (n.*7627_*7631del)
c.7567_7571del (p.Ile2523Ter)
c.7621_7625del (p.Ile2541Ter)
c.231-13434_231-13430del
c.7651_7655del (p.Ile2551Ter)
c.7546_7550del (p.Ile2516Ter)
c.7537_7541del (p.Ile2513Ter)
c.7498_7502del (p.Ile2500Ter)
c.7444_7448del (p.Ile2482Ter)
c.7348_7352del (p.Ile2450Ter)
c.7318_7322del (p.Ile2440Ter)
c.7243_7247del (p.Ile2415Ter)
c.7141_7145del (p.Ile2381Ter)
c.6772_6776del (p.Ile2258Ter)
ClinVar dbSNP
5g.112843215A=CA1573472527APCc.7675A= (p.Ile2559=)
c.*7627A= (n.*7627A=)
c.7567A= (p.Ile2523=)
c.7621A= (p.Ile2541=)
c.231-13434A=
c.7651A= (p.Ile2551=)
c.7546A= (p.Ile2516=)
c.7537A= (p.Ile2513=)
c.7498A= (p.Ile2500=)
c.7444A= (p.Ile2482=)
c.7348A= (p.Ile2450=)
c.7318A= (p.Ile2440=)
c.7243A= (p.Ile2415=)
c.7141A= (p.Ile2381=)
c.6772A= (p.Ile2258=)
5g.112843215A>CCA16037883APCc.7675A>C (p.Ile2559Leu)
c.*7627A>C (n.*7627A>C)
c.7567A>C (p.Ile2523Leu)
c.7621A>C (p.Ile2541Leu)
c.231-13434A>C
c.7651A>C (p.Ile2551Leu)
c.7546A>C (p.Ile2516Leu)
c.7537A>C (p.Ile2513Leu)
c.7498A>C (p.Ile2500Leu)
c.7444A>C (p.Ile2482Leu)
c.7348A>C (p.Ile2450Leu)
c.7318A>C (p.Ile2440Leu)
c.7243A>C (p.Ile2415Leu)
c.7141A>C (p.Ile2381Leu)
c.6772A>C (p.Ile2258Leu)
dbSNP
5g.112843215A>GCA013946APCc.7675A>G (p.Ile2559Val)
c.*7627A>G (n.*7627A>G)
c.7567A>G (p.Ile2523Val)
c.7621A>G (p.Ile2541Val)
c.231-13434A>G
c.7651A>G (p.Ile2551Val)
c.7546A>G (p.Ile2516Val)
c.7537A>G (p.Ile2513Val)
c.7498A>G (p.Ile2500Val)
c.7444A>G (p.Ile2482Val)
c.7348A>G (p.Ile2450Val)
c.7318A>G (p.Ile2440Val)
c.7243A>G (p.Ile2415Val)
c.7141A>G (p.Ile2381Val)
c.6772A>G (p.Ile2258Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.112843215A>TCA16037884APCc.7675A>T (p.Ile2559Phe)
c.*7627A>T (n.*7627A>T)
c.7567A>T (p.Ile2523Phe)
c.7621A>T (p.Ile2541Phe)
c.231-13434A>T
c.7651A>T (p.Ile2551Phe)
c.7546A>T (p.Ile2516Phe)
c.7537A>T (p.Ile2513Phe)
c.7498A>T (p.Ile2500Phe)
c.7444A>T (p.Ile2482Phe)
c.7348A>T (p.Ile2450Phe)
c.7318A>T (p.Ile2440Phe)
c.7243A>T (p.Ile2415Phe)
c.7141A>T (p.Ile2381Phe)
c.6772A>T (p.Ile2258Phe)
ClinVar dbSNP
5g.112843216T>ACA16037885APCc.7676T>A (p.Ile2559Asn)
c.*7628T>A (n.*7628T>A)
c.7568T>A (p.Ile2523Asn)
c.7622T>A (p.Ile2541Asn)
c.231-13433T>A
c.7652T>A (p.Ile2551Asn)
c.7547T>A (p.Ile2516Asn)
c.7538T>A (p.Ile2513Asn)
c.7499T>A (p.Ile2500Asn)
c.7445T>A (p.Ile2482Asn)
c.7349T>A (p.Ile2450Asn)
c.7319T>A (p.Ile2440Asn)
c.7244T>A (p.Ile2415Asn)
c.7142T>A (p.Ile2381Asn)
c.6773T>A (p.Ile2258Asn)
dbSNP
5g.112843216T>CCA16037886APCc.7676T>C (p.Ile2559Thr)
c.*7628T>C (n.*7628T>C)
c.7568T>C (p.Ile2523Thr)
c.7622T>C (p.Ile2541Thr)
c.231-13433T>C
c.7652T>C (p.Ile2551Thr)
c.7547T>C (p.Ile2516Thr)
c.7538T>C (p.Ile2513Thr)
c.7499T>C (p.Ile2500Thr)
c.7445T>C (p.Ile2482Thr)
c.7349T>C (p.Ile2450Thr)
c.7319T>C (p.Ile2440Thr)
c.7244T>C (p.Ile2415Thr)
c.7142T>C (p.Ile2381Thr)
c.6773T>C (p.Ile2258Thr)
ClinVar dbSNP gnomAD v4
5g.112843216T>GCA16037887APCc.7676T>G (p.Ile2559Ser)
c.*7628T>G (n.*7628T>G)
c.7568T>G (p.Ile2523Ser)
c.7622T>G (p.Ile2541Ser)
c.231-13433T>G
c.7652T>G (p.Ile2551Ser)
c.7547T>G (p.Ile2516Ser)
c.7538T>G (p.Ile2513Ser)
c.7499T>G (p.Ile2500Ser)
c.7445T>G (p.Ile2482Ser)
c.7349T>G (p.Ile2450Ser)
c.7319T>G (p.Ile2440Ser)
c.7244T>G (p.Ile2415Ser)
c.7142T>G (p.Ile2381Ser)
c.6773T>G (p.Ile2258Ser)
dbSNP
5g.112843216T=CA1573472537APCc.7676T= (p.Ile2559=)
c.*7628T= (n.*7628T=)
c.7568T= (p.Ile2523=)
c.7622T= (p.Ile2541=)
c.231-13433T=
c.7652T= (p.Ile2551=)
c.7547T= (p.Ile2516=)
c.7538T= (p.Ile2513=)
c.7499T= (p.Ile2500=)
c.7445T= (p.Ile2482=)
c.7349T= (p.Ile2450=)
c.7319T= (p.Ile2440=)
c.7244T= (p.Ile2415=)
c.7142T= (p.Ile2381=)
c.6773T= (p.Ile2258=)
5g.112843217C>ACA446211095APCc.7677C>A (p.Ile2559=)
c.*7629C>A (n.*7629C>A)
c.7569C>A (p.Ile2523=)
c.7623C>A (p.Ile2541=)
c.231-13432C>A
c.7653C>A (p.Ile2551=)
c.7548C>A (p.Ile2516=)
c.7539C>A (p.Ile2513=)
c.7500C>A (p.Ile2500=)
c.7446C>A (p.Ile2482=)
c.7350C>A (p.Ile2450=)
c.7320C>A (p.Ile2440=)
c.7245C>A (p.Ile2415=)
c.7143C>A (p.Ile2381=)
c.6774C>A (p.Ile2258=)
5g.112843217C>GCA16037888APCc.7677C>G (p.Ile2559Met)
c.*7629C>G (n.*7629C>G)
c.7569C>G (p.Ile2523Met)
c.7623C>G (p.Ile2541Met)
c.231-13432C>G
c.7653C>G (p.Ile2551Met)
c.7548C>G (p.Ile2516Met)
c.7539C>G (p.Ile2513Met)
c.7500C>G (p.Ile2500Met)
c.7446C>G (p.Ile2482Met)
c.7350C>G (p.Ile2450Met)
c.7320C>G (p.Ile2440Met)
c.7245C>G (p.Ile2415Met)
c.7143C>G (p.Ile2381Met)
c.6774C>G (p.Ile2258Met)
ClinVar
5g.112843217C>TCA446211096APCc.7677C>T (p.Ile2559=)
c.*7629C>T (n.*7629C>T)
c.7569C>T (p.Ile2523=)
c.7623C>T (p.Ile2541=)
c.231-13432C>T
c.7653C>T (p.Ile2551=)
c.7548C>T (p.Ile2516=)
c.7539C>T (p.Ile2513=)
c.7500C>T (p.Ile2500=)
c.7446C>T (p.Ile2482=)
c.7350C>T (p.Ile2450=)
c.7320C>T (p.Ile2440=)
c.7245C>T (p.Ile2415=)
c.7143C>T (p.Ile2381=)
c.6774C>T (p.Ile2258=)
ClinVar dbSNP gnomAD v4
5g.112843218A>CCA16037889APCc.7678A>C (p.Asn2560His)
c.*7630A>C (n.*7630A>C)
c.7570A>C (p.Asn2524His)
c.7624A>C (p.Asn2542His)
c.231-13431A>C
c.7654A>C (p.Asn2552His)
c.7549A>C (p.Asn2517His)
c.7540A>C (p.Asn2514His)
c.7501A>C (p.Asn2501His)
c.7447A>C (p.Asn2483His)
c.7351A>C (p.Asn2451His)
c.7321A>C (p.Asn2441His)
c.7246A>C (p.Asn2416His)
c.7144A>C (p.Asn2382His)
c.6775A>C (p.Asn2259His)
5g.112843218A>GCA16037890APCc.7678A>G (p.Asn2560Asp)
c.*7630A>G (n.*7630A>G)
c.7570A>G (p.Asn2524Asp)
c.7624A>G (p.Asn2542Asp)
c.231-13431A>G
c.7654A>G (p.Asn2552Asp)
c.7549A>G (p.Asn2517Asp)
c.7540A>G (p.Asn2514Asp)
c.7501A>G (p.Asn2501Asp)
c.7447A>G (p.Asn2483Asp)
c.7351A>G (p.Asn2451Asp)
c.7321A>G (p.Asn2441Asp)
c.7246A>G (p.Asn2416Asp)
c.7144A>G (p.Asn2382Asp)
c.6775A>G (p.Asn2259Asp)
ClinVar dbSNP gnomAD v4
5g.112843218A>TCA16037891APCc.7678A>T (p.Asn2560Tyr)
c.*7630A>T (n.*7630A>T)
c.7570A>T (p.Asn2524Tyr)
c.7624A>T (p.Asn2542Tyr)
c.231-13431A>T
c.7654A>T (p.Asn2552Tyr)
c.7549A>T (p.Asn2517Tyr)
c.7540A>T (p.Asn2514Tyr)
c.7501A>T (p.Asn2501Tyr)
c.7447A>T (p.Asn2483Tyr)
c.7351A>T (p.Asn2451Tyr)
c.7321A>T (p.Asn2441Tyr)
c.7246A>T (p.Asn2416Tyr)
c.7144A>T (p.Asn2382Tyr)
c.6775A>T (p.Asn2259Tyr)
dbSNP
5g.112843219A=CA1573472552APCc.7679A= (p.Asn2560=)
c.*7631A= (n.*7631A=)
c.7571A= (p.Asn2524=)
c.7625A= (p.Asn2542=)
c.231-13430A=
c.7655A= (p.Asn2552=)
c.7550A= (p.Asn2517=)
c.7541A= (p.Asn2514=)
c.7502A= (p.Asn2501=)
c.7448A= (p.Asn2483=)
c.7352A= (p.Asn2451=)
c.7322A= (p.Asn2441=)
c.7247A= (p.Asn2416=)
c.7145A= (p.Asn2382=)
c.6776A= (p.Asn2259=)
5g.112843219A>CCA16037892APCc.7679A>C (p.Asn2560Thr)
c.*7631A>C (n.*7631A>C)
c.7571A>C (p.Asn2524Thr)
c.7625A>C (p.Asn2542Thr)
c.231-13430A>C
c.7655A>C (p.Asn2552Thr)
c.7550A>C (p.Asn2517Thr)
c.7541A>C (p.Asn2514Thr)
c.7502A>C (p.Asn2501Thr)
c.7448A>C (p.Asn2483Thr)
c.7352A>C (p.Asn2451Thr)
c.7322A>C (p.Asn2441Thr)
c.7247A>C (p.Asn2416Thr)
c.7145A>C (p.Asn2382Thr)
c.6776A>C (p.Asn2259Thr)
dbSNP
5g.112843219A>GCA013956APCc.7679A>G (p.Asn2560Ser)
c.*7631A>G (n.*7631A>G)
c.7571A>G (p.Asn2524Ser)
c.7625A>G (p.Asn2542Ser)
c.231-13430A>G
c.7655A>G (p.Asn2552Ser)
c.7550A>G (p.Asn2517Ser)
c.7541A>G (p.Asn2514Ser)
c.7502A>G (p.Asn2501Ser)
c.7448A>G (p.Asn2483Ser)
c.7352A>G (p.Asn2451Ser)
c.7322A>G (p.Asn2441Ser)
c.7247A>G (p.Asn2416Ser)
c.7145A>G (p.Asn2382Ser)
c.6776A>G (p.Asn2259Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843219A>TCA16037893APCc.7679A>T (p.Asn2560Ile)
c.*7631A>T (n.*7631A>T)
c.7571A>T (p.Asn2524Ile)
c.7625A>T (p.Asn2542Ile)
c.231-13430A>T
c.7655A>T (p.Asn2552Ile)
c.7550A>T (p.Asn2517Ile)
c.7541A>T (p.Asn2514Ile)
c.7502A>T (p.Asn2501Ile)
c.7448A>T (p.Asn2483Ile)
c.7352A>T (p.Asn2451Ile)
c.7322A>T (p.Asn2441Ile)
c.7247A>T (p.Asn2416Ile)
c.7145A>T (p.Asn2382Ile)
c.6776A>T (p.Asn2259Ile)
dbSNP
5g.112843220T>ACA16037894APCc.7680T>A (p.Asn2560Lys)
c.*7632T>A (n.*7632T>A)
c.7572T>A (p.Asn2524Lys)
c.7626T>A (p.Asn2542Lys)
c.231-13429T>A
c.7656T>A (p.Asn2552Lys)
c.7551T>A (p.Asn2517Lys)
c.7542T>A (p.Asn2514Lys)
c.7503T>A (p.Asn2501Lys)
c.7449T>A (p.Asn2483Lys)
c.7353T>A (p.Asn2451Lys)
c.7323T>A (p.Asn2441Lys)
c.7248T>A (p.Asn2416Lys)
c.7146T>A (p.Asn2382Lys)
c.6777T>A (p.Asn2259Lys)
dbSNP
5g.112843220T>CCA446211097APCc.7680T>C (p.Asn2560=)
c.*7632T>C (n.*7632T>C)
c.7572T>C (p.Asn2524=)
c.7626T>C (p.Asn2542=)
c.231-13429T>C
c.7656T>C (p.Asn2552=)
c.7551T>C (p.Asn2517=)
c.7542T>C (p.Asn2514=)
c.7503T>C (p.Asn2501=)
c.7449T>C (p.Asn2483=)
c.7353T>C (p.Asn2451=)
c.7323T>C (p.Asn2441=)
c.7248T>C (p.Asn2416=)
c.7146T>C (p.Asn2382=)
c.6777T>C (p.Asn2259=)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112843220T>GCA16037895APCc.7680T>G (p.Asn2560Lys)
c.*7632T>G (n.*7632T>G)
c.7572T>G (p.Asn2524Lys)
c.7626T>G (p.Asn2542Lys)
c.231-13429T>G
c.7656T>G (p.Asn2552Lys)
c.7551T>G (p.Asn2517Lys)
c.7542T>G (p.Asn2514Lys)
c.7503T>G (p.Asn2501Lys)
c.7449T>G (p.Asn2483Lys)
c.7353T>G (p.Asn2451Lys)
c.7323T>G (p.Asn2441Lys)
c.7248T>G (p.Asn2416Lys)
c.7146T>G (p.Asn2382Lys)
c.6777T>G (p.Asn2259Lys)
5g.112843220T=CA1573472561APCc.7680T= (p.Asn2560=)
c.*7632T= (n.*7632T=)
c.7572T= (p.Asn2524=)
c.7626T= (p.Asn2542=)
c.231-13429T=
c.7656T= (p.Asn2552=)
c.7551T= (p.Asn2517=)
c.7542T= (p.Asn2514=)
c.7503T= (p.Asn2501=)
c.7449T= (p.Asn2483=)
c.7353T= (p.Asn2451=)
c.7323T= (p.Asn2441=)
c.7248T= (p.Asn2416=)
c.7146T= (p.Asn2382=)
c.6777T= (p.Asn2259=)
5g.112843221A>CCA446211098APCc.7681A>C (p.Arg2561=)
c.*7633A>C (n.*7633A>C)
c.7573A>C (p.Arg2525=)
c.7627A>C (p.Arg2543=)
c.231-13428A>C
c.7657A>C (p.Arg2553=)
c.7552A>C (p.Arg2518=)
c.7543A>C (p.Arg2515=)
c.7504A>C (p.Arg2502=)
c.7450A>C (p.Arg2484=)
c.7354A>C (p.Arg2452=)
c.7324A>C (p.Arg2442=)
c.7249A>C (p.Arg2417=)
c.7147A>C (p.Arg2383=)
c.6778A>C (p.Arg2260=)
5g.112843221A>GCA16037896APCc.7681A>G (p.Arg2561Gly)
c.*7633A>G (n.*7633A>G)
c.7573A>G (p.Arg2525Gly)
c.7627A>G (p.Arg2543Gly)
c.231-13428A>G
c.7657A>G (p.Arg2553Gly)
c.7552A>G (p.Arg2518Gly)
c.7543A>G (p.Arg2515Gly)
c.7504A>G (p.Arg2502Gly)
c.7450A>G (p.Arg2484Gly)
c.7354A>G (p.Arg2452Gly)
c.7324A>G (p.Arg2442Gly)
c.7249A>G (p.Arg2417Gly)
c.7147A>G (p.Arg2383Gly)
c.6778A>G (p.Arg2260Gly)
dbSNP gnomAD v4
5g.112843221A>TCA16037897APCc.7681A>T (p.Arg2561Trp)
c.*7633A>T (n.*7633A>T)
c.7573A>T (p.Arg2525Trp)
c.7627A>T (p.Arg2543Trp)
c.231-13428A>T
c.7657A>T (p.Arg2553Trp)
c.7552A>T (p.Arg2518Trp)
c.7543A>T (p.Arg2515Trp)
c.7504A>T (p.Arg2502Trp)
c.7450A>T (p.Arg2484Trp)
c.7354A>T (p.Arg2452Trp)
c.7324A>T (p.Arg2442Trp)
c.7249A>T (p.Arg2417Trp)
c.7147A>T (p.Arg2383Trp)
c.6778A>T (p.Arg2260Trp)
dbSNP
5g.112843224_112843228delCA2674869515APCc.7684_7688del (p.Ser2562AsnfsTer5)
c.*7636_*7640del (n.*7636_*7640del)
c.7576_7580del (p.Ser2526AsnfsTer5)
c.7630_7634del (p.Ser2544AsnfsTer5)
c.231-13425_231-13421del
c.7660_7664del (p.Ser2554AsnfsTer5)
c.7555_7559del (p.Ser2519AsnfsTer5)
c.7546_7550del (p.Ser2516AsnfsTer5)
c.7507_7511del (p.Ser2503AsnfsTer5)
c.7453_7457del (p.Ser2485AsnfsTer5)
c.7357_7361del (p.Ser2453AsnfsTer5)
c.7327_7331del (p.Ser2443AsnfsTer5)
c.7252_7256del (p.Ser2418AsnfsTer5)
c.7150_7154del (p.Ser2384AsnfsTer5)
c.6781_6785del (p.Ser2261AsnfsTer5)
gnomAD v4
5g.112843222G>ACA16037898APCc.7682G>A (p.Arg2561Lys)
c.*7634G>A (n.*7634G>A)
c.7574G>A (p.Arg2525Lys)
c.7628G>A (p.Arg2543Lys)
c.231-13427G>A
c.7658G>A (p.Arg2553Lys)
c.7553G>A (p.Arg2518Lys)
c.7544G>A (p.Arg2515Lys)
c.7505G>A (p.Arg2502Lys)
c.7451G>A (p.Arg2484Lys)
c.7355G>A (p.Arg2452Lys)
c.7325G>A (p.Arg2442Lys)
c.7250G>A (p.Arg2417Lys)
c.7148G>A (p.Arg2383Lys)
c.6779G>A (p.Arg2260Lys)
dbSNP gnomAD v4
5g.112843222G>CCA16037899APCc.7682G>C (p.Arg2561Thr)
c.*7634G>C (n.*7634G>C)
c.7574G>C (p.Arg2525Thr)
c.7628G>C (p.Arg2543Thr)
c.231-13427G>C
c.7658G>C (p.Arg2553Thr)
c.7553G>C (p.Arg2518Thr)
c.7544G>C (p.Arg2515Thr)
c.7505G>C (p.Arg2502Thr)
c.7451G>C (p.Arg2484Thr)
c.7355G>C (p.Arg2452Thr)
c.7325G>C (p.Arg2442Thr)
c.7250G>C (p.Arg2417Thr)
c.7148G>C (p.Arg2383Thr)
c.6779G>C (p.Arg2260Thr)
dbSNP
5g.112843222G>TCA16037900APCc.7682G>T (p.Arg2561Met)
c.*7634G>T (n.*7634G>T)
c.7574G>T (p.Arg2525Met)
c.7628G>T (p.Arg2543Met)
c.231-13427G>T
c.7658G>T (p.Arg2553Met)
c.7553G>T (p.Arg2518Met)
c.7544G>T (p.Arg2515Met)
c.7505G>T (p.Arg2502Met)
c.7451G>T (p.Arg2484Met)
c.7355G>T (p.Arg2452Met)
c.7325G>T (p.Arg2442Met)
c.7250G>T (p.Arg2417Met)
c.7148G>T (p.Arg2383Met)
c.6779G>T (p.Arg2260Met)
dbSNP
5g.112843223G>ACA013968APCc.7683G>A (p.Arg2561=)
c.*7635G>A (n.*7635G>A)
c.7575G>A (p.Arg2525=)
c.7629G>A (p.Arg2543=)
c.231-13426G>A
c.7659G>A (p.Arg2553=)
c.7554G>A (p.Arg2518=)
c.7545G>A (p.Arg2515=)
c.7506G>A (p.Arg2502=)
c.7452G>A (p.Arg2484=)
c.7356G>A (p.Arg2452=)
c.7326G>A (p.Arg2442=)
c.7251G>A (p.Arg2417=)
c.7149G>A (p.Arg2383=)
c.6780G>A (p.Arg2260=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843223G>CCA16037901APCc.7683G>C (p.Arg2561Ser)
c.*7635G>C (n.*7635G>C)
c.7575G>C (p.Arg2525Ser)
c.7629G>C (p.Arg2543Ser)
c.231-13426G>C
c.7659G>C (p.Arg2553Ser)
c.7554G>C (p.Arg2518Ser)
c.7545G>C (p.Arg2515Ser)
c.7506G>C (p.Arg2502Ser)
c.7452G>C (p.Arg2484Ser)
c.7356G>C (p.Arg2452Ser)
c.7326G>C (p.Arg2442Ser)
c.7251G>C (p.Arg2417Ser)
c.7149G>C (p.Arg2383Ser)
c.6780G>C (p.Arg2260Ser)
dbSNP
5g.112843223G=CA1573472581APCc.7683G= (p.Arg2561=)
c.*7635G= (n.*7635G=)
c.7575G= (p.Arg2525=)
c.7629G= (p.Arg2543=)
c.231-13426G=
c.7659G= (p.Arg2553=)
c.7554G= (p.Arg2518=)
c.7545G= (p.Arg2515=)
c.7506G= (p.Arg2502=)
c.7452G= (p.Arg2484=)
c.7356G= (p.Arg2452=)
c.7326G= (p.Arg2442=)
c.7251G= (p.Arg2417=)
c.7149G= (p.Arg2383=)
c.6780G= (p.Arg2260=)
5g.112843223G>TCA16037902APCc.7683G>T (p.Arg2561Ser)
c.*7635G>T (n.*7635G>T)
c.7575G>T (p.Arg2525Ser)
c.7629G>T (p.Arg2543Ser)
c.231-13426G>T
c.7659G>T (p.Arg2553Ser)
c.7554G>T (p.Arg2518Ser)
c.7545G>T (p.Arg2515Ser)
c.7506G>T (p.Arg2502Ser)
c.7452G>T (p.Arg2484Ser)
c.7356G>T (p.Arg2452Ser)
c.7326G>T (p.Arg2442Ser)
c.7251G>T (p.Arg2417Ser)
c.7149G>T (p.Arg2383Ser)
c.6780G>T (p.Arg2260Ser)
ClinVar dbSNP gnomAD v4
5g.112843224T>ACA16037903APCc.7684T>A (p.Ser2562Thr)
c.*7636T>A (n.*7636T>A)
c.7576T>A (p.Ser2526Thr)
c.7630T>A (p.Ser2544Thr)
c.231-13425T>A
c.7660T>A (p.Ser2554Thr)
c.7555T>A (p.Ser2519Thr)
c.7546T>A (p.Ser2516Thr)
c.7507T>A (p.Ser2503Thr)
c.7453T>A (p.Ser2485Thr)
c.7357T>A (p.Ser2453Thr)
c.7327T>A (p.Ser2443Thr)
c.7252T>A (p.Ser2418Thr)
c.7150T>A (p.Ser2384Thr)
c.6781T>A (p.Ser2261Thr)
dbSNP
5g.112843224T>CCA16037904APCc.7684T>C (p.Ser2562Pro)
c.*7636T>C (n.*7636T>C)
c.7576T>C (p.Ser2526Pro)
c.7630T>C (p.Ser2544Pro)
c.231-13425T>C
c.7660T>C (p.Ser2554Pro)
c.7555T>C (p.Ser2519Pro)
c.7546T>C (p.Ser2516Pro)
c.7507T>C (p.Ser2503Pro)
c.7453T>C (p.Ser2485Pro)
c.7357T>C (p.Ser2453Pro)
c.7327T>C (p.Ser2443Pro)
c.7252T>C (p.Ser2418Pro)
c.7150T>C (p.Ser2384Pro)
c.6781T>C (p.Ser2261Pro)
dbSNP
5g.112843224T>GCA16037905APCc.7684T>G (p.Ser2562Ala)
c.*7636T>G (n.*7636T>G)
c.7576T>G (p.Ser2526Ala)
c.7630T>G (p.Ser2544Ala)
c.231-13425T>G
c.7660T>G (p.Ser2554Ala)
c.7555T>G (p.Ser2519Ala)
c.7546T>G (p.Ser2516Ala)
c.7507T>G (p.Ser2503Ala)
c.7453T>G (p.Ser2485Ala)
c.7357T>G (p.Ser2453Ala)
c.7327T>G (p.Ser2443Ala)
c.7252T>G (p.Ser2418Ala)
c.7150T>G (p.Ser2384Ala)
c.6781T>G (p.Ser2261Ala)
dbSNP
5g.112843225C>ACA16037906APCc.7685C>A (p.Ser2562Ter)
c.*7637C>A (n.*7637C>A)
c.7577C>A (p.Ser2526Ter)
c.7631C>A (p.Ser2544Ter)
c.231-13424C>A
c.7661C>A (p.Ser2554Ter)
c.7556C>A (p.Ser2519Ter)
c.7547C>A (p.Ser2516Ter)
c.7508C>A (p.Ser2503Ter)
c.7454C>A (p.Ser2485Ter)
c.7358C>A (p.Ser2453Ter)
c.7328C>A (p.Ser2443Ter)
c.7253C>A (p.Ser2418Ter)
c.7151C>A (p.Ser2384Ter)
c.6782C>A (p.Ser2261Ter)
dbSNP COSMIC
5g.112843225C>GCA16037907APCc.7685C>G (p.Ser2562Ter)
c.*7637C>G (n.*7637C>G)
c.7577C>G (p.Ser2526Ter)
c.7631C>G (p.Ser2544Ter)
c.231-13424C>G
c.7661C>G (p.Ser2554Ter)
c.7556C>G (p.Ser2519Ter)
c.7547C>G (p.Ser2516Ter)
c.7508C>G (p.Ser2503Ter)
c.7454C>G (p.Ser2485Ter)
c.7358C>G (p.Ser2453Ter)
c.7328C>G (p.Ser2443Ter)
c.7253C>G (p.Ser2418Ter)
c.7151C>G (p.Ser2384Ter)
c.6782C>G (p.Ser2261Ter)
dbSNP
5g.112843225C>TCA16037908APCc.7685C>T (p.Ser2562Leu)
c.*7637C>T (n.*7637C>T)
c.7577C>T (p.Ser2526Leu)
c.7631C>T (p.Ser2544Leu)
c.231-13424C>T
c.7661C>T (p.Ser2554Leu)
c.7556C>T (p.Ser2519Leu)
c.7547C>T (p.Ser2516Leu)
c.7508C>T (p.Ser2503Leu)
c.7454C>T (p.Ser2485Leu)
c.7358C>T (p.Ser2453Leu)
c.7328C>T (p.Ser2443Leu)
c.7253C>T (p.Ser2418Leu)
c.7151C>T (p.Ser2384Leu)
c.6782C>T (p.Ser2261Leu)
ClinVar dbSNP gnomAD v4
5g.112843226A=CA1573472586APCc.7686A= (p.Ser2562=)
c.*7638A= (n.*7638A=)
c.7578A= (p.Ser2526=)
c.7632A= (p.Ser2544=)
c.231-13423A=
c.7662A= (p.Ser2554=)
c.7557A= (p.Ser2519=)
c.7548A= (p.Ser2516=)
c.7509A= (p.Ser2503=)
c.7455A= (p.Ser2485=)
c.7359A= (p.Ser2453=)
c.7329A= (p.Ser2443=)
c.7254A= (p.Ser2418=)
c.7152A= (p.Ser2384=)
c.6783A= (p.Ser2261=)
5g.112843226A>CCA446211099APCc.7686A>C (p.Ser2562=)
c.*7638A>C (n.*7638A>C)
c.7578A>C (p.Ser2526=)
c.7632A>C (p.Ser2544=)
c.231-13423A>C
c.7662A>C (p.Ser2554=)
c.7557A>C (p.Ser2519=)
c.7548A>C (p.Ser2516=)
c.7509A>C (p.Ser2503=)
c.7455A>C (p.Ser2485=)
c.7359A>C (p.Ser2453=)
c.7329A>C (p.Ser2443=)
c.7254A>C (p.Ser2418=)
c.7152A>C (p.Ser2384=)
c.6783A>C (p.Ser2261=)
5g.112843226A>GCA048784APCc.7686A>G (p.Ser2562=)
c.*7638A>G (n.*7638A>G)
c.7578A>G (p.Ser2526=)
c.7632A>G (p.Ser2544=)
c.231-13423A>G
c.7662A>G (p.Ser2554=)
c.7557A>G (p.Ser2519=)
c.7548A>G (p.Ser2516=)
c.7509A>G (p.Ser2503=)
c.7455A>G (p.Ser2485=)
c.7359A>G (p.Ser2453=)
c.7329A>G (p.Ser2443=)
c.7254A>G (p.Ser2418=)
c.7152A>G (p.Ser2384=)
c.6783A>G (p.Ser2261=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843226A>TCA446211100APCc.7686A>T (p.Ser2562=)
c.*7638A>T (n.*7638A>T)
c.7578A>T (p.Ser2526=)
c.7632A>T (p.Ser2544=)
c.231-13423A>T
c.7662A>T (p.Ser2554=)
c.7557A>T (p.Ser2519=)
c.7548A>T (p.Ser2516=)
c.7509A>T (p.Ser2503=)
c.7455A>T (p.Ser2485=)
c.7359A>T (p.Ser2453=)
c.7329A>T (p.Ser2443=)
c.7254A>T (p.Ser2418=)
c.7152A>T (p.Ser2384=)
c.6783A>T (p.Ser2261=)
5g.112843227G>ACA16037909APCc.7687G>A (p.Gly2563Arg)
c.*7639G>A (n.*7639G>A)
c.7579G>A (p.Gly2527Arg)
c.7633G>A (p.Gly2545Arg)
c.231-13422G>A
c.7663G>A (p.Gly2555Arg)
c.7558G>A (p.Gly2520Arg)
c.7549G>A (p.Gly2517Arg)
c.7510G>A (p.Gly2504Arg)
c.7456G>A (p.Gly2486Arg)
c.7360G>A (p.Gly2454Arg)
c.7330G>A (p.Gly2444Arg)
c.7255G>A (p.Gly2419Arg)
c.7153G>A (p.Gly2385Arg)
c.6784G>A (p.Gly2262Arg)
ClinVar dbSNP
5g.112843227G>CCA16037910APCc.7687G>C (p.Gly2563Arg)
c.*7639G>C (n.*7639G>C)
c.7579G>C (p.Gly2527Arg)
c.7633G>C (p.Gly2545Arg)
c.231-13422G>C
c.7663G>C (p.Gly2555Arg)
c.7558G>C (p.Gly2520Arg)
c.7549G>C (p.Gly2517Arg)
c.7510G>C (p.Gly2504Arg)
c.7456G>C (p.Gly2486Arg)
c.7360G>C (p.Gly2454Arg)
c.7330G>C (p.Gly2444Arg)
c.7255G>C (p.Gly2419Arg)
c.7153G>C (p.Gly2385Arg)
c.6784G>C (p.Gly2262Arg)
dbSNP
5g.112843227G=CA1573472589APCc.7687G= (p.Gly2563=)
c.*7639G= (n.*7639G=)
c.7579G= (p.Gly2527=)
c.7633G= (p.Gly2545=)
c.231-13422G=
c.7663G= (p.Gly2555=)
c.7558G= (p.Gly2520=)
c.7549G= (p.Gly2517=)
c.7510G= (p.Gly2504=)
c.7456G= (p.Gly2486=)
c.7360G= (p.Gly2454=)
c.7330G= (p.Gly2444=)
c.7255G= (p.Gly2419=)
c.7153G= (p.Gly2385=)
c.6784G= (p.Gly2262=)
5g.112843227G>TCA16037911APCc.7687G>T (p.Gly2563Ter)
c.*7639G>T (n.*7639G>T)
c.7579G>T (p.Gly2527Ter)
c.7633G>T (p.Gly2545Ter)
c.231-13422G>T
c.7663G>T (p.Gly2555Ter)
c.7558G>T (p.Gly2520Ter)
c.7549G>T (p.Gly2517Ter)
c.7510G>T (p.Gly2504Ter)
c.7456G>T (p.Gly2486Ter)
c.7360G>T (p.Gly2454Ter)
c.7330G>T (p.Gly2444Ter)
c.7255G>T (p.Gly2419Ter)
c.7153G>T (p.Gly2385Ter)
c.6784G>T (p.Gly2262Ter)
dbSNP
5g.112843228G>ACA16037912APCc.7688G>A (p.Gly2563Glu)
c.*7640G>A (n.*7640G>A)
c.7580G>A (p.Gly2527Glu)
c.7634G>A (p.Gly2545Glu)
c.231-13421G>A
c.7664G>A (p.Gly2555Glu)
c.7559G>A (p.Gly2520Glu)
c.7550G>A (p.Gly2517Glu)
c.7511G>A (p.Gly2504Glu)
c.7457G>A (p.Gly2486Glu)
c.7361G>A (p.Gly2454Glu)
c.7331G>A (p.Gly2444Glu)
c.7256G>A (p.Gly2419Glu)
c.7154G>A (p.Gly2385Glu)
c.6785G>A (p.Gly2262Glu)
ClinVar dbSNP gnomAD v4
5g.112843228G>CCA16037913APCc.7688G>C (p.Gly2563Ala)
c.*7640G>C (n.*7640G>C)
c.7580G>C (p.Gly2527Ala)
c.7634G>C (p.Gly2545Ala)
c.231-13421G>C
c.7664G>C (p.Gly2555Ala)
c.7559G>C (p.Gly2520Ala)
c.7550G>C (p.Gly2517Ala)
c.7511G>C (p.Gly2504Ala)
c.7457G>C (p.Gly2486Ala)
c.7361G>C (p.Gly2454Ala)
c.7331G>C (p.Gly2444Ala)
c.7256G>C (p.Gly2419Ala)
c.7154G>C (p.Gly2385Ala)
c.6785G>C (p.Gly2262Ala)
dbSNP
5g.112843228G=CA1573472602APCc.7688G= (p.Gly2563=)
c.*7640G= (n.*7640G=)
c.7580G= (p.Gly2527=)
c.7634G= (p.Gly2545=)
c.231-13421G=
c.7664G= (p.Gly2555=)
c.7559G= (p.Gly2520=)
c.7550G= (p.Gly2517=)
c.7511G= (p.Gly2504=)
c.7457G= (p.Gly2486=)
c.7361G= (p.Gly2454=)
c.7331G= (p.Gly2444=)
c.7256G= (p.Gly2419=)
c.7154G= (p.Gly2385=)
c.6785G= (p.Gly2262=)
5g.112843228G>TCA16037914APCc.7688G>T (p.Gly2563Val)
c.*7640G>T (n.*7640G>T)
c.7580G>T (p.Gly2527Val)
c.7634G>T (p.Gly2545Val)
c.231-13421G>T
c.7664G>T (p.Gly2555Val)
c.7559G>T (p.Gly2520Val)
c.7550G>T (p.Gly2517Val)
c.7511G>T (p.Gly2504Val)
c.7457G>T (p.Gly2486Val)
c.7361G>T (p.Gly2454Val)
c.7331G>T (p.Gly2444Val)
c.7256G>T (p.Gly2419Val)
c.7154G>T (p.Gly2385Val)
c.6785G>T (p.Gly2262Val)
dbSNP
5g.112843229A=CA1573472610APCc.7689A= (p.Gly2563=)
c.*7641A= (n.*7641A=)
c.7581A= (p.Gly2527=)
c.7635A= (p.Gly2545=)
c.231-13420A=
c.7665A= (p.Gly2555=)
c.7560A= (p.Gly2520=)
c.7551A= (p.Gly2517=)
c.7512A= (p.Gly2504=)
c.7458A= (p.Gly2486=)
c.7362A= (p.Gly2454=)
c.7332A= (p.Gly2444=)
c.7257A= (p.Gly2419=)
c.7155A= (p.Gly2385=)
c.6786A= (p.Gly2262=)
5g.112843229A>CCA446211101APCc.7689A>C (p.Gly2563=)
c.*7641A>C (n.*7641A>C)
c.7581A>C (p.Gly2527=)
c.7635A>C (p.Gly2545=)
c.231-13420A>C
c.7665A>C (p.Gly2555=)
c.7560A>C (p.Gly2520=)
c.7551A>C (p.Gly2517=)
c.7512A>C (p.Gly2504=)
c.7458A>C (p.Gly2486=)
c.7362A>C (p.Gly2454=)
c.7332A>C (p.Gly2444=)
c.7257A>C (p.Gly2419=)
c.7155A>C (p.Gly2385=)
c.6786A>C (p.Gly2262=)
ClinVar gnomAD v4
5g.112843229A>GCA446211102APCc.7689A>G (p.Gly2563=)
c.*7641A>G (n.*7641A>G)
c.7581A>G (p.Gly2527=)
c.7635A>G (p.Gly2545=)
c.231-13420A>G
c.7665A>G (p.Gly2555=)
c.7560A>G (p.Gly2520=)
c.7551A>G (p.Gly2517=)
c.7512A>G (p.Gly2504=)
c.7458A>G (p.Gly2486=)
c.7362A>G (p.Gly2454=)
c.7332A>G (p.Gly2444=)
c.7257A>G (p.Gly2419=)
c.7155A>G (p.Gly2385=)
c.6786A>G (p.Gly2262=)
ClinVar dbSNP
5g.112843229A>TCA446211103APCc.7689A>T (p.Gly2563=)
c.*7641A>T (n.*7641A>T)
c.7581A>T (p.Gly2527=)
c.7635A>T (p.Gly2545=)
c.231-13420A>T
c.7665A>T (p.Gly2555=)
c.7560A>T (p.Gly2520=)
c.7551A>T (p.Gly2517=)
c.7512A>T (p.Gly2504=)
c.7458A>T (p.Gly2486=)
c.7362A>T (p.Gly2454=)
c.7332A>T (p.Gly2444=)
c.7257A>T (p.Gly2419=)
c.7155A>T (p.Gly2385=)
c.6786A>T (p.Gly2262=)
dbSNP
5g.112843230delCA2582341629APCc.7690del (p.Thr2564ProfsTer16)
c.*7642del (n.*7642del)
c.7582del (p.Thr2528ProfsTer16)
c.7636del (p.Thr2546ProfsTer16)
c.231-13419del
c.7666del (p.Thr2556ProfsTer16)
c.7561del (p.Thr2521ProfsTer16)
c.7552del (p.Thr2518ProfsTer16)
c.7513del (p.Thr2505ProfsTer16)
c.7459del (p.Thr2487ProfsTer16)
c.7363del (p.Thr2455ProfsTer16)
c.7333del (p.Thr2445ProfsTer16)
c.7258del (p.Thr2420ProfsTer16)
c.7156del (p.Thr2386ProfsTer16)
c.6787del (p.Thr2263ProfsTer16)
ClinVar
5g.112843230A>CCA16037915APCc.7690A>C (p.Thr2564Pro)
c.*7642A>C (n.*7642A>C)
c.7582A>C (p.Thr2528Pro)
c.7636A>C (p.Thr2546Pro)
c.231-13419A>C
c.7666A>C (p.Thr2556Pro)
c.7561A>C (p.Thr2521Pro)
c.7552A>C (p.Thr2518Pro)
c.7513A>C (p.Thr2505Pro)
c.7459A>C (p.Thr2487Pro)
c.7363A>C (p.Thr2455Pro)
c.7333A>C (p.Thr2445Pro)
c.7258A>C (p.Thr2420Pro)
c.7156A>C (p.Thr2386Pro)
c.6787A>C (p.Thr2263Pro)
dbSNP
5g.112843230A>GCA16037916APCc.7690A>G (p.Thr2564Ala)
c.*7642A>G (n.*7642A>G)
c.7582A>G (p.Thr2528Ala)
c.7636A>G (p.Thr2546Ala)
c.231-13419A>G
c.7666A>G (p.Thr2556Ala)
c.7561A>G (p.Thr2521Ala)
c.7552A>G (p.Thr2518Ala)
c.7513A>G (p.Thr2505Ala)
c.7459A>G (p.Thr2487Ala)
c.7363A>G (p.Thr2455Ala)
c.7333A>G (p.Thr2445Ala)
c.7258A>G (p.Thr2420Ala)
c.7156A>G (p.Thr2386Ala)
c.6787A>G (p.Thr2263Ala)
dbSNP COSMIC
5g.112843230A>TCA16037917APCc.7690A>T (p.Thr2564Ser)
c.*7642A>T (n.*7642A>T)
c.7582A>T (p.Thr2528Ser)
c.7636A>T (p.Thr2546Ser)
c.231-13419A>T
c.7666A>T (p.Thr2556Ser)
c.7561A>T (p.Thr2521Ser)
c.7552A>T (p.Thr2518Ser)
c.7513A>T (p.Thr2505Ser)
c.7459A>T (p.Thr2487Ser)
c.7363A>T (p.Thr2455Ser)
c.7333A>T (p.Thr2445Ser)
c.7258A>T (p.Thr2420Ser)
c.7156A>T (p.Thr2386Ser)
c.6787A>T (p.Thr2263Ser)
ClinVar dbSNP
5g.112843230_112843231insGGGAAGGACA2532971020APCc.7690_7691insGGGAAGGA (p.Thr2564ArgfsTer19)
c.*7642_*7643insGGGAAGGA (n.*7642_*7643insGGGAAGGA)
c.7582_7583insGGGAAGGA (p.Thr2528ArgfsTer19)
c.7636_7637insGGGAAGGA (p.Thr2546ArgfsTer19)
c.231-13419_231-13418insGGGAAGGA
c.7666_7667insGGGAAGGA (p.Thr2556ArgfsTer19)
c.7561_7562insGGGAAGGA (p.Thr2521ArgfsTer19)
c.7552_7553insGGGAAGGA (p.Thr2518ArgfsTer19)
c.7513_7514insGGGAAGGA (p.Thr2505ArgfsTer19)
c.7459_7460insGGGAAGGA (p.Thr2487ArgfsTer19)
c.7363_7364insGGGAAGGA (p.Thr2455ArgfsTer19)
c.7333_7334insGGGAAGGA (p.Thr2445ArgfsTer19)
c.7258_7259insGGGAAGGA (p.Thr2420ArgfsTer19)
c.7156_7157insGGGAAGGA (p.Thr2386ArgfsTer19)
c.6787_6788insGGGAAGGA (p.Thr2263ArgfsTer19)
5g.112843231C>ACA16037918APCc.7691C>A (p.Thr2564Asn)
c.*7643C>A (n.*7643C>A)
c.7583C>A (p.Thr2528Asn)
c.7637C>A (p.Thr2546Asn)
c.231-13418C>A
c.7667C>A (p.Thr2556Asn)
c.7562C>A (p.Thr2521Asn)
c.7553C>A (p.Thr2518Asn)
c.7514C>A (p.Thr2505Asn)
c.7460C>A (p.Thr2487Asn)
c.7364C>A (p.Thr2455Asn)
c.7334C>A (p.Thr2445Asn)
c.7259C>A (p.Thr2420Asn)
c.7157C>A (p.Thr2386Asn)
c.6788C>A (p.Thr2263Asn)
dbSNP
5g.112843231C>GCA16037919APCc.7691C>G (p.Thr2564Ser)
c.*7643C>G (n.*7643C>G)
c.7583C>G (p.Thr2528Ser)
c.7637C>G (p.Thr2546Ser)
c.231-13418C>G
c.7667C>G (p.Thr2556Ser)
c.7562C>G (p.Thr2521Ser)
c.7553C>G (p.Thr2518Ser)
c.7514C>G (p.Thr2505Ser)
c.7460C>G (p.Thr2487Ser)
c.7364C>G (p.Thr2455Ser)
c.7334C>G (p.Thr2445Ser)
c.7259C>G (p.Thr2420Ser)
c.7157C>G (p.Thr2386Ser)
c.6788C>G (p.Thr2263Ser)
ClinVar
5g.112843231C>TCA16037920APCc.7691C>T (p.Thr2564Ile)
c.*7643C>T (n.*7643C>T)
c.7583C>T (p.Thr2528Ile)
c.7637C>T (p.Thr2546Ile)
c.231-13418C>T
c.7667C>T (p.Thr2556Ile)
c.7562C>T (p.Thr2521Ile)
c.7553C>T (p.Thr2518Ile)
c.7514C>T (p.Thr2505Ile)
c.7460C>T (p.Thr2487Ile)
c.7364C>T (p.Thr2455Ile)
c.7334C>T (p.Thr2445Ile)
c.7259C>T (p.Thr2420Ile)
c.7157C>T (p.Thr2386Ile)
c.6788C>T (p.Thr2263Ile)
ClinVar dbSNP gnomAD v4
5g.112843232C>ACA446211104APCc.7692C>A (p.Thr2564=)
c.*7644C>A (n.*7644C>A)
c.7584C>A (p.Thr2528=)
c.7638C>A (p.Thr2546=)
c.231-13417C>A
c.7668C>A (p.Thr2556=)
c.7563C>A (p.Thr2521=)
c.7554C>A (p.Thr2518=)
c.7515C>A (p.Thr2505=)
c.7461C>A (p.Thr2487=)
c.7365C>A (p.Thr2455=)
c.7335C>A (p.Thr2445=)
c.7260C>A (p.Thr2420=)
c.7158C>A (p.Thr2386=)
c.6789C>A (p.Thr2263=)
dbSNP
5g.112843232C=CA1573472618APCc.7692C= (p.Thr2564=)
c.*7644C= (n.*7644C=)
c.7584C= (p.Thr2528=)
c.7638C= (p.Thr2546=)
c.231-13417C=
c.7668C= (p.Thr2556=)
c.7563C= (p.Thr2521=)
c.7554C= (p.Thr2518=)
c.7515C= (p.Thr2505=)
c.7461C= (p.Thr2487=)
c.7365C= (p.Thr2455=)
c.7335C= (p.Thr2445=)
c.7260C= (p.Thr2420=)
c.7158C= (p.Thr2386=)
c.6789C= (p.Thr2263=)
5g.112843232C>GCA446211105APCc.7692C>G (p.Thr2564=)
c.*7644C>G (n.*7644C>G)
c.7584C>G (p.Thr2528=)
c.7638C>G (p.Thr2546=)
c.231-13417C>G
c.7668C>G (p.Thr2556=)
c.7563C>G (p.Thr2521=)
c.7554C>G (p.Thr2518=)
c.7515C>G (p.Thr2505=)
c.7461C>G (p.Thr2487=)
c.7365C>G (p.Thr2455=)
c.7335C>G (p.Thr2445=)
c.7260C>G (p.Thr2420=)
c.7158C>G (p.Thr2386=)
c.6789C>G (p.Thr2263=)
ClinVar dbSNP
5g.112843232C>TCA446211106APCc.7692C>T (p.Thr2564=)
c.*7644C>T (n.*7644C>T)
c.7584C>T (p.Thr2528=)
c.7638C>T (p.Thr2546=)
c.231-13417C>T
c.7668C>T (p.Thr2556=)
c.7563C>T (p.Thr2521=)
c.7554C>T (p.Thr2518=)
c.7515C>T (p.Thr2505=)
c.7461C>T (p.Thr2487=)
c.7365C>T (p.Thr2455=)
c.7335C>T (p.Thr2445=)
c.7260C>T (p.Thr2420=)
c.7158C>T (p.Thr2386=)
c.6789C>T (p.Thr2263=)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112843233T>ACA16037921APCc.7693T>A (p.Trp2565Arg)
c.*7645T>A (n.*7645T>A)
c.7585T>A (p.Trp2529Arg)
c.7639T>A (p.Trp2547Arg)
c.231-13416T>A
c.7669T>A (p.Trp2557Arg)
c.7564T>A (p.Trp2522Arg)
c.7555T>A (p.Trp2519Arg)
c.7516T>A (p.Trp2506Arg)
c.7462T>A (p.Trp2488Arg)
c.7366T>A (p.Trp2456Arg)
c.7336T>A (p.Trp2446Arg)
c.7261T>A (p.Trp2421Arg)
c.7159T>A (p.Trp2387Arg)
c.6790T>A (p.Trp2264Arg)
ClinVar dbSNP
5g.112843233T>CCA16037922APCc.7693T>C (p.Trp2565Arg)
c.*7645T>C (n.*7645T>C)
c.7585T>C (p.Trp2529Arg)
c.7639T>C (p.Trp2547Arg)
c.231-13416T>C
c.7669T>C (p.Trp2557Arg)
c.7564T>C (p.Trp2522Arg)
c.7555T>C (p.Trp2519Arg)
c.7516T>C (p.Trp2506Arg)
c.7462T>C (p.Trp2488Arg)
c.7366T>C (p.Trp2456Arg)
c.7336T>C (p.Trp2446Arg)
c.7261T>C (p.Trp2421Arg)
c.7159T>C (p.Trp2387Arg)
c.6790T>C (p.Trp2264Arg)
dbSNP
5g.112843233T>GCA16037923APCc.7693T>G (p.Trp2565Gly)
c.*7645T>G (n.*7645T>G)
c.7585T>G (p.Trp2529Gly)
c.7639T>G (p.Trp2547Gly)
c.231-13416T>G
c.7669T>G (p.Trp2557Gly)
c.7564T>G (p.Trp2522Gly)
c.7555T>G (p.Trp2519Gly)
c.7516T>G (p.Trp2506Gly)
c.7462T>G (p.Trp2488Gly)
c.7366T>G (p.Trp2456Gly)
c.7336T>G (p.Trp2446Gly)
c.7261T>G (p.Trp2421Gly)
c.7159T>G (p.Trp2387Gly)
c.6790T>G (p.Trp2264Gly)
ClinVar dbSNP
5g.112843233T=CA1573472625APCc.7693T= (p.Trp2565=)
c.*7645T= (n.*7645T=)
c.7585T= (p.Trp2529=)
c.7639T= (p.Trp2547=)
c.231-13416T=
c.7669T= (p.Trp2557=)
c.7564T= (p.Trp2522=)
c.7555T= (p.Trp2519=)
c.7516T= (p.Trp2506=)
c.7462T= (p.Trp2488=)
c.7366T= (p.Trp2456=)
c.7336T= (p.Trp2446=)
c.7261T= (p.Trp2421=)
c.7159T= (p.Trp2387=)
c.6790T= (p.Trp2264=)
5g.112843234G>ACA16037924APCc.7694G>A (p.Trp2565Ter)
c.*7646G>A (n.*7646G>A)
c.7586G>A (p.Trp2529Ter)
c.7640G>A (p.Trp2547Ter)
c.231-13415G>A
c.7670G>A (p.Trp2557Ter)
c.7565G>A (p.Trp2522Ter)
c.7556G>A (p.Trp2519Ter)
c.7517G>A (p.Trp2506Ter)
c.7463G>A (p.Trp2488Ter)
c.7367G>A (p.Trp2456Ter)
c.7337G>A (p.Trp2446Ter)
c.7262G>A (p.Trp2421Ter)
c.7160G>A (p.Trp2387Ter)
c.6791G>A (p.Trp2264Ter)
gnomAD v4
5g.112843234G>CCA16037925APCc.7694G>C (p.Trp2565Ser)
c.*7646G>C (n.*7646G>C)
c.7586G>C (p.Trp2529Ser)
c.7640G>C (p.Trp2547Ser)
c.231-13415G>C
c.7670G>C (p.Trp2557Ser)
c.7565G>C (p.Trp2522Ser)
c.7556G>C (p.Trp2519Ser)
c.7517G>C (p.Trp2506Ser)
c.7463G>C (p.Trp2488Ser)
c.7367G>C (p.Trp2456Ser)
c.7337G>C (p.Trp2446Ser)
c.7262G>C (p.Trp2421Ser)
c.7160G>C (p.Trp2387Ser)
c.6791G>C (p.Trp2264Ser)
dbSNP
5g.112843234G>TCA16037926APCc.7694G>T (p.Trp2565Leu)
c.*7646G>T (n.*7646G>T)
c.7586G>T (p.Trp2529Leu)
c.7640G>T (p.Trp2547Leu)
c.231-13415G>T
c.7670G>T (p.Trp2557Leu)
c.7565G>T (p.Trp2522Leu)
c.7556G>T (p.Trp2519Leu)
c.7517G>T (p.Trp2506Leu)
c.7463G>T (p.Trp2488Leu)
c.7367G>T (p.Trp2456Leu)
c.7337G>T (p.Trp2446Leu)
c.7262G>T (p.Trp2421Leu)
c.7160G>T (p.Trp2387Leu)
c.6791G>T (p.Trp2264Leu)
5g.112843235G>ACA16037927APCc.7695G>A (p.Trp2565Ter)
c.*7647G>A (n.*7647G>A)
c.7587G>A (p.Trp2529Ter)
c.7641G>A (p.Trp2547Ter)
c.231-13414G>A
c.7671G>A (p.Trp2557Ter)
c.7566G>A (p.Trp2522Ter)
c.7557G>A (p.Trp2519Ter)
c.7518G>A (p.Trp2506Ter)
c.7464G>A (p.Trp2488Ter)
c.7368G>A (p.Trp2456Ter)
c.7338G>A (p.Trp2446Ter)
c.7263G>A (p.Trp2421Ter)
c.7161G>A (p.Trp2387Ter)
c.6792G>A (p.Trp2264Ter)
5g.112843235G>CCA16037928APCc.7695G>C (p.Trp2565Cys)
c.*7647G>C (n.*7647G>C)
c.7587G>C (p.Trp2529Cys)
c.7641G>C (p.Trp2547Cys)
c.231-13414G>C
c.7671G>C (p.Trp2557Cys)
c.7566G>C (p.Trp2522Cys)
c.7557G>C (p.Trp2519Cys)
c.7518G>C (p.Trp2506Cys)
c.7464G>C (p.Trp2488Cys)
c.7368G>C (p.Trp2456Cys)
c.7338G>C (p.Trp2446Cys)
c.7263G>C (p.Trp2421Cys)
c.7161G>C (p.Trp2387Cys)
c.6792G>C (p.Trp2264Cys)
ClinVar
5g.112843235G>TCA16037929APCc.7695G>T (p.Trp2565Cys)
c.*7647G>T (n.*7647G>T)
c.7587G>T (p.Trp2529Cys)
c.7641G>T (p.Trp2547Cys)
c.231-13414G>T
c.7671G>T (p.Trp2557Cys)
c.7566G>T (p.Trp2522Cys)
c.7557G>T (p.Trp2519Cys)
c.7518G>T (p.Trp2506Cys)
c.7464G>T (p.Trp2488Cys)
c.7368G>T (p.Trp2456Cys)
c.7338G>T (p.Trp2446Cys)
c.7263G>T (p.Trp2421Cys)
c.7161G>T (p.Trp2387Cys)
c.6792G>T (p.Trp2264Cys)
5g.112843236A=CA1573472632APCc.7696A= (p.Lys2566=)
c.*7648A= (n.*7648A=)
c.7588A= (p.Lys2530=)
c.7642A= (p.Lys2548=)
c.231-13413A=
c.7672A= (p.Lys2558=)
c.7567A= (p.Lys2523=)
c.7558A= (p.Lys2520=)
c.7519A= (p.Lys2507=)
c.7465A= (p.Lys2489=)
c.7369A= (p.Lys2457=)
c.7339A= (p.Lys2447=)
c.7264A= (p.Lys2422=)
c.7162A= (p.Lys2388=)
c.6793A= (p.Lys2265=)
5g.112843236A>CCA16037930APCc.7696A>C (p.Lys2566Gln)
c.*7648A>C (n.*7648A>C)
c.7588A>C (p.Lys2530Gln)
c.7642A>C (p.Lys2548Gln)
c.231-13413A>C
c.7672A>C (p.Lys2558Gln)
c.7567A>C (p.Lys2523Gln)
c.7558A>C (p.Lys2520Gln)
c.7519A>C (p.Lys2507Gln)
c.7465A>C (p.Lys2489Gln)
c.7369A>C (p.Lys2457Gln)
c.7339A>C (p.Lys2447Gln)
c.7264A>C (p.Lys2422Gln)
c.7162A>C (p.Lys2388Gln)
c.6793A>C (p.Lys2265Gln)
5g.112843236A>GCA16037931APCc.7696A>G (p.Lys2566Glu)
c.*7648A>G (n.*7648A>G)
c.7588A>G (p.Lys2530Glu)
c.7642A>G (p.Lys2548Glu)
c.231-13413A>G
c.7672A>G (p.Lys2558Glu)
c.7567A>G (p.Lys2523Glu)
c.7558A>G (p.Lys2520Glu)
c.7519A>G (p.Lys2507Glu)
c.7465A>G (p.Lys2489Glu)
c.7369A>G (p.Lys2457Glu)
c.7339A>G (p.Lys2447Glu)
c.7264A>G (p.Lys2422Glu)
c.7162A>G (p.Lys2388Glu)
c.6793A>G (p.Lys2265Glu)
dbSNP
5g.112843236A>TCA16037932APCc.7696A>T (p.Lys2566Ter)
c.*7648A>T (n.*7648A>T)
c.7588A>T (p.Lys2530Ter)
c.7642A>T (p.Lys2548Ter)
c.231-13413A>T
c.7672A>T (p.Lys2558Ter)
c.7567A>T (p.Lys2523Ter)
c.7558A>T (p.Lys2520Ter)
c.7519A>T (p.Lys2507Ter)
c.7465A>T (p.Lys2489Ter)
c.7369A>T (p.Lys2457Ter)
c.7339A>T (p.Lys2447Ter)
c.7264A>T (p.Lys2422Ter)
c.7162A>T (p.Lys2388Ter)
c.6793A>T (p.Lys2265Ter)
dbSNP
5g.112843236_112843243delCA2582341630APCc.7696_7703del (p.Lys2566AlafsTer?)
c.*7648_*7655del (n.*7648_*7655del)
c.7588_7595del (p.Lys2530AlafsTer?)
c.7642_7649del (p.Lys2548AlafsTer?)
c.231-13413_231-13406del
c.7672_7679del (p.Lys2558AlafsTer?)
c.7567_7574del (p.Lys2523AlafsTer?)
c.7558_7565del (p.Lys2520AlafsTer?)
c.7519_7526del (p.Lys2507AlafsTer?)
c.7465_7472del (p.Lys2489AlafsTer?)
c.7369_7376del (p.Lys2457AlafsTer?)
c.7339_7346del (p.Lys2447AlafsTer?)
c.7264_7271del (p.Lys2422AlafsTer?)
c.7162_7169del (p.Lys2388AlafsTer?)
c.6793_6800del (p.Lys2265AlafsTer?)
ClinVar
5g.112843237A>CCA16037933APCc.7697A>C (p.Lys2566Thr)
c.*7649A>C (n.*7649A>C)
c.7589A>C (p.Lys2530Thr)
c.7643A>C (p.Lys2548Thr)
c.231-13412A>C
c.7673A>C (p.Lys2558Thr)
c.7568A>C (p.Lys2523Thr)
c.7559A>C (p.Lys2520Thr)
c.7520A>C (p.Lys2507Thr)
c.7466A>C (p.Lys2489Thr)
c.7370A>C (p.Lys2457Thr)
c.7340A>C (p.Lys2447Thr)
c.7265A>C (p.Lys2422Thr)
c.7163A>C (p.Lys2388Thr)
c.6794A>C (p.Lys2265Thr)
dbSNP
5g.112843237A>GCA16037934APCc.7697A>G (p.Lys2566Arg)
c.*7649A>G (n.*7649A>G)
c.7589A>G (p.Lys2530Arg)
c.7643A>G (p.Lys2548Arg)
c.231-13412A>G
c.7673A>G (p.Lys2558Arg)
c.7568A>G (p.Lys2523Arg)
c.7559A>G (p.Lys2520Arg)
c.7520A>G (p.Lys2507Arg)
c.7466A>G (p.Lys2489Arg)
c.7370A>G (p.Lys2457Arg)
c.7340A>G (p.Lys2447Arg)
c.7265A>G (p.Lys2422Arg)
c.7163A>G (p.Lys2388Arg)
c.6794A>G (p.Lys2265Arg)
dbSNP
5g.112843237A>TCA16037935APCc.7697A>T (p.Lys2566Ile)
c.*7649A>T (n.*7649A>T)
c.7589A>T (p.Lys2530Ile)
c.7643A>T (p.Lys2548Ile)
c.231-13412A>T
c.7673A>T (p.Lys2558Ile)
c.7568A>T (p.Lys2523Ile)
c.7559A>T (p.Lys2520Ile)
c.7520A>T (p.Lys2507Ile)
c.7466A>T (p.Lys2489Ile)
c.7370A>T (p.Lys2457Ile)
c.7340A>T (p.Lys2447Ile)
c.7265A>T (p.Lys2422Ile)
c.7163A>T (p.Lys2388Ile)
c.6794A>T (p.Lys2265Ile)
ClinVar dbSNP
5g.112843238A=CA1573472637APCc.7698A= (p.Lys2566=)
c.*7650A= (n.*7650A=)
c.7590A= (p.Lys2530=)
c.7644A= (p.Lys2548=)
c.231-13411A=
c.7674A= (p.Lys2558=)
c.7569A= (p.Lys2523=)
c.7560A= (p.Lys2520=)
c.7521A= (p.Lys2507=)
c.7467A= (p.Lys2489=)
c.7371A= (p.Lys2457=)
c.7341A= (p.Lys2447=)
c.7266A= (p.Lys2422=)
c.7164A= (p.Lys2388=)
c.6795A= (p.Lys2265=)
5g.112843238A>CCA16037936APCc.7698A>C (p.Lys2566Asn)
c.*7650A>C (n.*7650A>C)
c.7590A>C (p.Lys2530Asn)
c.7644A>C (p.Lys2548Asn)
c.231-13411A>C
c.7674A>C (p.Lys2558Asn)
c.7569A>C (p.Lys2523Asn)
c.7560A>C (p.Lys2520Asn)
c.7521A>C (p.Lys2507Asn)
c.7467A>C (p.Lys2489Asn)
c.7371A>C (p.Lys2457Asn)
c.7341A>C (p.Lys2447Asn)
c.7266A>C (p.Lys2422Asn)
c.7164A>C (p.Lys2388Asn)
c.6795A>C (p.Lys2265Asn)
dbSNP gnomAD v4
5g.112843238A>GCA446211107APCc.7698A>G (p.Lys2566=)
c.*7650A>G (n.*7650A>G)
c.7590A>G (p.Lys2530=)
c.7644A>G (p.Lys2548=)
c.231-13411A>G
c.7674A>G (p.Lys2558=)
c.7569A>G (p.Lys2523=)
c.7560A>G (p.Lys2520=)
c.7521A>G (p.Lys2507=)
c.7467A>G (p.Lys2489=)
c.7371A>G (p.Lys2457=)
c.7341A>G (p.Lys2447=)
c.7266A>G (p.Lys2422=)
c.7164A>G (p.Lys2388=)
c.6795A>G (p.Lys2265=)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
5g.112843238A>TCA16037937APCc.7698A>T (p.Lys2566Asn)
c.*7650A>T (n.*7650A>T)
c.7590A>T (p.Lys2530Asn)
c.7644A>T (p.Lys2548Asn)
c.231-13411A>T
c.7674A>T (p.Lys2558Asn)
c.7569A>T (p.Lys2523Asn)
c.7560A>T (p.Lys2520Asn)
c.7521A>T (p.Lys2507Asn)
c.7467A>T (p.Lys2489Asn)
c.7371A>T (p.Lys2457Asn)
c.7341A>T (p.Lys2447Asn)
c.7266A>T (p.Lys2422Asn)
c.7164A>T (p.Lys2388Asn)
c.6795A>T (p.Lys2265Asn)
dbSNP gnomAD v2 gnomAD v4
5g.112843239C>ACA16037938APCc.7699C>A (p.Arg2567Ser)
c.*7651C>A (n.*7651C>A)
c.7591C>A (p.Arg2531Ser)
c.7645C>A (p.Arg2549Ser)
c.231-13410C>A
c.7675C>A (p.Arg2559Ser)
c.7570C>A (p.Arg2524Ser)
c.7561C>A (p.Arg2521Ser)
c.7522C>A (p.Arg2508Ser)
c.7468C>A (p.Arg2490Ser)
c.7372C>A (p.Arg2458Ser)
c.7342C>A (p.Arg2448Ser)
c.7267C>A (p.Arg2423Ser)
c.7165C>A (p.Arg2389Ser)
c.6796C>A (p.Arg2266Ser)
dbSNP
5g.112843239C=CA1573472644APCc.7699C= (p.Arg2567=)
c.*7651C= (n.*7651C=)
c.7591C= (p.Arg2531=)
c.7645C= (p.Arg2549=)
c.231-13410C=
c.7675C= (p.Arg2559=)
c.7570C= (p.Arg2524=)
c.7561C= (p.Arg2521=)
c.7522C= (p.Arg2508=)
c.7468C= (p.Arg2490=)
c.7372C= (p.Arg2458=)
c.7342C= (p.Arg2448=)
c.7267C= (p.Arg2423=)
c.7165C= (p.Arg2389=)
c.6796C= (p.Arg2266=)
5g.112843239C>GCA16037939APCc.7699C>G (p.Arg2567Gly)
c.*7651C>G (n.*7651C>G)
c.7591C>G (p.Arg2531Gly)
c.7645C>G (p.Arg2549Gly)
c.231-13410C>G
c.7675C>G (p.Arg2559Gly)
c.7570C>G (p.Arg2524Gly)
c.7561C>G (p.Arg2521Gly)
c.7522C>G (p.Arg2508Gly)
c.7468C>G (p.Arg2490Gly)
c.7372C>G (p.Arg2458Gly)
c.7342C>G (p.Arg2448Gly)
c.7267C>G (p.Arg2423Gly)
c.7165C>G (p.Arg2389Gly)
c.6796C>G (p.Arg2266Gly)
ClinVar dbSNP
5g.112843239C>TCA048806APCc.7699C>T (p.Arg2567Cys)
c.*7651C>T (n.*7651C>T)
c.7591C>T (p.Arg2531Cys)
c.7645C>T (p.Arg2549Cys)
c.231-13410C>T
c.7675C>T (p.Arg2559Cys)
c.7570C>T (p.Arg2524Cys)
c.7561C>T (p.Arg2521Cys)
c.7522C>T (p.Arg2508Cys)
c.7468C>T (p.Arg2490Cys)
c.7372C>T (p.Arg2458Cys)
c.7342C>T (p.Arg2448Cys)
c.7267C>T (p.Arg2423Cys)
c.7165C>T (p.Arg2389Cys)
c.6796C>T (p.Arg2266Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843240G>ACA048820APCc.7700G>A (p.Arg2567His)
c.*7652G>A (n.*7652G>A)
c.7592G>A (p.Arg2531His)
c.7646G>A (p.Arg2549His)
c.231-13409G>A
c.7676G>A (p.Arg2559His)
c.7571G>A (p.Arg2524His)
c.7562G>A (p.Arg2521His)
c.7523G>A (p.Arg2508His)
c.7469G>A (p.Arg2490His)
c.7373G>A (p.Arg2458His)
c.7343G>A (p.Arg2448His)
c.7268G>A (p.Arg2423His)
c.7166G>A (p.Arg2389His)
c.6797G>A (p.Arg2266His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843240G>CCA16037940APCc.7700G>C (p.Arg2567Pro)
c.*7652G>C (n.*7652G>C)
c.7592G>C (p.Arg2531Pro)
c.7646G>C (p.Arg2549Pro)
c.231-13409G>C
c.7676G>C (p.Arg2559Pro)
c.7571G>C (p.Arg2524Pro)
c.7562G>C (p.Arg2521Pro)
c.7523G>C (p.Arg2508Pro)
c.7469G>C (p.Arg2490Pro)
c.7373G>C (p.Arg2458Pro)
c.7343G>C (p.Arg2448Pro)
c.7268G>C (p.Arg2423Pro)
c.7166G>C (p.Arg2389Pro)
c.6797G>C (p.Arg2266Pro)
dbSNP
5g.112843240G=CA1573472656APCc.7700G= (p.Arg2567=)
c.*7652G= (n.*7652G=)
c.7592G= (p.Arg2531=)
c.7646G= (p.Arg2549=)
c.231-13409G=
c.7676G= (p.Arg2559=)
c.7571G= (p.Arg2524=)
c.7562G= (p.Arg2521=)
c.7523G= (p.Arg2508=)
c.7469G= (p.Arg2490=)
c.7373G= (p.Arg2458=)
c.7343G= (p.Arg2448=)
c.7268G= (p.Arg2423=)
c.7166G= (p.Arg2389=)
c.6797G= (p.Arg2266=)
5g.112843240G>TCA16037941APCc.7700G>T (p.Arg2567Leu)
c.*7652G>T (n.*7652G>T)
c.7592G>T (p.Arg2531Leu)
c.7646G>T (p.Arg2549Leu)
c.231-13409G>T
c.7676G>T (p.Arg2559Leu)
c.7571G>T (p.Arg2524Leu)
c.7562G>T (p.Arg2521Leu)
c.7523G>T (p.Arg2508Leu)
c.7469G>T (p.Arg2490Leu)
c.7373G>T (p.Arg2458Leu)
c.7343G>T (p.Arg2448Leu)
c.7268G>T (p.Arg2423Leu)
c.7166G>T (p.Arg2389Leu)
c.6797G>T (p.Arg2266Leu)
ClinVar dbSNP
5g.112843241T>ACA048836APCc.7701T>A (p.Arg2567=)
c.*7653T>A (n.*7653T>A)
c.7593T>A (p.Arg2531=)
c.7647T>A (p.Arg2549=)
c.231-13408T>A
c.7677T>A (p.Arg2559=)
c.7572T>A (p.Arg2524=)
c.7563T>A (p.Arg2521=)
c.7524T>A (p.Arg2508=)
c.7470T>A (p.Arg2490=)
c.7374T>A (p.Arg2458=)
c.7344T>A (p.Arg2448=)
c.7269T>A (p.Arg2423=)
c.7167T>A (p.Arg2389=)
c.6798T>A (p.Arg2266=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112843241T>CCA446211108APCc.7701T>C (p.Arg2567=)
c.*7653T>C (n.*7653T>C)
c.7593T>C (p.Arg2531=)
c.7647T>C (p.Arg2549=)
c.231-13408T>C
c.7677T>C (p.Arg2559=)
c.7572T>C (p.Arg2524=)
c.7563T>C (p.Arg2521=)
c.7524T>C (p.Arg2508=)
c.7470T>C (p.Arg2490=)
c.7374T>C (p.Arg2458=)
c.7344T>C (p.Arg2448=)
c.7269T>C (p.Arg2423=)
c.7167T>C (p.Arg2389=)
c.6798T>C (p.Arg2266=)
ClinVar dbSNP
5g.112843241T>GCA446211109APCc.7701T>G (p.Arg2567=)
c.*7653T>G (n.*7653T>G)
c.7593T>G (p.Arg2531=)
c.7647T>G (p.Arg2549=)
c.231-13408T>G
c.7677T>G (p.Arg2559=)
c.7572T>G (p.Arg2524=)
c.7563T>G (p.Arg2521=)
c.7524T>G (p.Arg2508=)
c.7470T>G (p.Arg2490=)
c.7374T>G (p.Arg2458=)
c.7344T>G (p.Arg2448=)
c.7269T>G (p.Arg2423=)
c.7167T>G (p.Arg2389=)
c.6798T>G (p.Arg2266=)
5g.112843241T=CA1573472671APCc.7701T= (p.Arg2567=)
c.*7653T= (n.*7653T=)
c.7593T= (p.Arg2531=)
c.7647T= (p.Arg2549=)
c.231-13408T=
c.7677T= (p.Arg2559=)
c.7572T= (p.Arg2524=)
c.7563T= (p.Arg2521=)
c.7524T= (p.Arg2508=)
c.7470T= (p.Arg2490=)
c.7374T= (p.Arg2458=)
c.7344T= (p.Arg2448=)
c.7269T= (p.Arg2423=)
c.7167T= (p.Arg2389=)
c.6798T= (p.Arg2266=)
5g.112843242G>ACA16037942APCc.7702G>A (p.Glu2568Lys)
c.*7654G>A (n.*7654G>A)
c.7594G>A (p.Glu2532Lys)
c.7648G>A (p.Glu2550Lys)
c.231-13407G>A
c.7678G>A (p.Glu2560Lys)
c.7573G>A (p.Glu2525Lys)
c.7564G>A (p.Glu2522Lys)
c.7525G>A (p.Glu2509Lys)
c.7471G>A (p.Glu2491Lys)
c.7375G>A (p.Glu2459Lys)
c.7345G>A (p.Glu2449Lys)
c.7270G>A (p.Glu2424Lys)
c.7168G>A (p.Glu2390Lys)
c.6799G>A (p.Glu2267Lys)
ClinVar dbSNP
5g.112843242G>CCA16037943APCc.7702G>C (p.Glu2568Gln)
c.*7654G>C (n.*7654G>C)
c.7594G>C (p.Glu2532Gln)
c.7648G>C (p.Glu2550Gln)
c.231-13407G>C
c.7678G>C (p.Glu2560Gln)
c.7573G>C (p.Glu2525Gln)
c.7564G>C (p.Glu2522Gln)
c.7525G>C (p.Glu2509Gln)
c.7471G>C (p.Glu2491Gln)
c.7375G>C (p.Glu2459Gln)
c.7345G>C (p.Glu2449Gln)
c.7270G>C (p.Glu2424Gln)
c.7168G>C (p.Glu2390Gln)
c.6799G>C (p.Glu2267Gln)
dbSNP COSMIC
5g.112843242G>TCA16037944APCc.7702G>T (p.Glu2568Ter)
c.*7654G>T (n.*7654G>T)
c.7594G>T (p.Glu2532Ter)
c.7648G>T (p.Glu2550Ter)
c.231-13407G>T
c.7678G>T (p.Glu2560Ter)
c.7573G>T (p.Glu2525Ter)
c.7564G>T (p.Glu2522Ter)
c.7525G>T (p.Glu2509Ter)
c.7471G>T (p.Glu2491Ter)
c.7375G>T (p.Glu2459Ter)
c.7345G>T (p.Glu2449Ter)
c.7270G>T (p.Glu2424Ter)
c.7168G>T (p.Glu2390Ter)
c.6799G>T (p.Glu2267Ter)
5g.112843243A>CCA16037945APCc.7703A>C (p.Glu2568Ala)
c.*7655A>C (n.*7655A>C)
c.7595A>C (p.Glu2532Ala)
c.7649A>C (p.Glu2550Ala)
c.231-13406A>C
c.7679A>C (p.Glu2560Ala)
c.7574A>C (p.Glu2525Ala)
c.7565A>C (p.Glu2522Ala)
c.7526A>C (p.Glu2509Ala)
c.7472A>C (p.Glu2491Ala)
c.7376A>C (p.Glu2459Ala)
c.7346A>C (p.Glu2449Ala)
c.7271A>C (p.Glu2424Ala)
c.7169A>C (p.Glu2390Ala)
c.6800A>C (p.Glu2267Ala)
gnomAD v4
5g.112843243A>GCA16037946APCc.7703A>G (p.Glu2568Gly)
c.*7655A>G (n.*7655A>G)
c.7595A>G (p.Glu2532Gly)
c.7649A>G (p.Glu2550Gly)
c.231-13406A>G
c.7679A>G (p.Glu2560Gly)
c.7574A>G (p.Glu2525Gly)
c.7565A>G (p.Glu2522Gly)
c.7526A>G (p.Glu2509Gly)
c.7472A>G (p.Glu2491Gly)
c.7376A>G (p.Glu2459Gly)
c.7346A>G (p.Glu2449Gly)
c.7271A>G (p.Glu2424Gly)
c.7169A>G (p.Glu2390Gly)
c.6800A>G (p.Glu2267Gly)
dbSNP
5g.112843243A>TCA16037947APCc.7703A>T (p.Glu2568Val)
c.*7655A>T (n.*7655A>T)
c.7595A>T (p.Glu2532Val)
c.7649A>T (p.Glu2550Val)
c.231-13406A>T
c.7679A>T (p.Glu2560Val)
c.7574A>T (p.Glu2525Val)
c.7565A>T (p.Glu2522Val)
c.7526A>T (p.Glu2509Val)
c.7472A>T (p.Glu2491Val)
c.7376A>T (p.Glu2459Val)
c.7346A>T (p.Glu2449Val)
c.7271A>T (p.Glu2424Val)
c.7169A>T (p.Glu2390Val)
c.6800A>T (p.Glu2267Val)
dbSNP COSMIC
5g.112843244G>ACA446211110APCc.7704G>A (p.Glu2568=)
c.*7656G>A (n.*7656G>A)
c.7596G>A (p.Glu2532=)
c.7650G>A (p.Glu2550=)
c.231-13405G>A
c.7680G>A (p.Glu2560=)
c.7575G>A (p.Glu2525=)
c.7566G>A (p.Glu2522=)
c.7527G>A (p.Glu2509=)
c.7473G>A (p.Glu2491=)
c.7377G>A (p.Glu2459=)
c.7347G>A (p.Glu2449=)
c.7272G>A (p.Glu2424=)
c.7170G>A (p.Glu2390=)
c.6801G>A (p.Glu2267=)
ClinVar dbSNP
5g.112843244G>CCA16037948APCc.7704G>C (p.Glu2568Asp)
c.*7656G>C (n.*7656G>C)
c.7596G>C (p.Glu2532Asp)
c.7650G>C (p.Glu2550Asp)
c.231-13405G>C
c.7680G>C (p.Glu2560Asp)
c.7575G>C (p.Glu2525Asp)
c.7566G>C (p.Glu2522Asp)
c.7527G>C (p.Glu2509Asp)
c.7473G>C (p.Glu2491Asp)
c.7377G>C (p.Glu2459Asp)
c.7347G>C (p.Glu2449Asp)
c.7272G>C (p.Glu2424Asp)
c.7170G>C (p.Glu2390Asp)
c.6801G>C (p.Glu2267Asp)
dbSNP
5g.112843244G>TCA16037949APCc.7704G>T (p.Glu2568Asp)
c.*7656G>T (n.*7656G>T)
c.7596G>T (p.Glu2532Asp)
c.7650G>T (p.Glu2550Asp)
c.231-13405G>T
c.7680G>T (p.Glu2560Asp)
c.7575G>T (p.Glu2525Asp)
c.7566G>T (p.Glu2522Asp)
c.7527G>T (p.Glu2509Asp)
c.7473G>T (p.Glu2491Asp)
c.7377G>T (p.Glu2459Asp)
c.7347G>T (p.Glu2449Asp)
c.7272G>T (p.Glu2424Asp)
c.7170G>T (p.Glu2390Asp)
c.6801G>T (p.Glu2267Asp)
dbSNP
5g.112843245C>ACA16037950APCc.7705C>A (p.His2569Asn)
c.*7657C>A (n.*7657C>A)
c.7597C>A (p.His2533Asn)
c.7651C>A (p.His2551Asn)
c.231-13404C>A
c.7681C>A (p.His2561Asn)
c.7576C>A (p.His2526Asn)
c.7567C>A (p.His2523Asn)
c.7528C>A (p.His2510Asn)
c.7474C>A (p.His2492Asn)
c.7378C>A (p.His2460Asn)
c.7348C>A (p.His2450Asn)
c.7273C>A (p.His2425Asn)
c.7171C>A (p.His2391Asn)
c.6802C>A (p.His2268Asn)
dbSNP
5g.112843245C>GCA16037951APCc.7705C>G (p.His2569Asp)
c.*7657C>G (n.*7657C>G)
c.7597C>G (p.His2533Asp)
c.7651C>G (p.His2551Asp)
c.231-13404C>G
c.7681C>G (p.His2561Asp)
c.7576C>G (p.His2526Asp)
c.7567C>G (p.His2523Asp)
c.7528C>G (p.His2510Asp)
c.7474C>G (p.His2492Asp)
c.7378C>G (p.His2460Asp)
c.7348C>G (p.His2450Asp)
c.7273C>G (p.His2425Asp)
c.7171C>G (p.His2391Asp)
c.6802C>G (p.His2268Asp)
dbSNP
5g.112843245C>TCA16037952APCc.7705C>T (p.His2569Tyr)
c.*7657C>T (n.*7657C>T)
c.7597C>T (p.His2533Tyr)
c.7651C>T (p.His2551Tyr)
c.231-13404C>T
c.7681C>T (p.His2561Tyr)
c.7576C>T (p.His2526Tyr)
c.7567C>T (p.His2523Tyr)
c.7528C>T (p.His2510Tyr)
c.7474C>T (p.His2492Tyr)
c.7378C>T (p.His2460Tyr)
c.7348C>T (p.His2450Tyr)
c.7273C>T (p.His2425Tyr)
c.7171C>T (p.His2391Tyr)
c.6802C>T (p.His2268Tyr)
ClinVar dbSNP
5g.112843246A=CA1573472678APCc.7706A= (p.His2569=)
c.*7658A= (n.*7658A=)
c.7598A= (p.His2533=)
c.7652A= (p.His2551=)
c.231-13403A=
c.7682A= (p.His2561=)
c.7577A= (p.His2526=)
c.7568A= (p.His2523=)
c.7529A= (p.His2510=)
c.7475A= (p.His2492=)
c.7379A= (p.His2460=)
c.7349A= (p.His2450=)
c.7274A= (p.His2425=)
c.7172A= (p.His2391=)
c.6803A= (p.His2268=)
5g.112843246A>CCA16037953APCc.7706A>C (p.His2569Pro)
c.*7658A>C (n.*7658A>C)
c.7598A>C (p.His2533Pro)
c.7652A>C (p.His2551Pro)
c.231-13403A>C
c.7682A>C (p.His2561Pro)
c.7577A>C (p.His2526Pro)
c.7568A>C (p.His2523Pro)
c.7529A>C (p.His2510Pro)
c.7475A>C (p.His2492Pro)
c.7379A>C (p.His2460Pro)
c.7349A>C (p.His2450Pro)
c.7274A>C (p.His2425Pro)
c.7172A>C (p.His2391Pro)
c.6803A>C (p.His2268Pro)
dbSNP
5g.112843246A>GCA16037954APCc.7706A>G (p.His2569Arg)
c.*7658A>G (n.*7658A>G)
c.7598A>G (p.His2533Arg)
c.7652A>G (p.His2551Arg)
c.231-13403A>G
c.7682A>G (p.His2561Arg)
c.7577A>G (p.His2526Arg)
c.7568A>G (p.His2523Arg)
c.7529A>G (p.His2510Arg)
c.7475A>G (p.His2492Arg)
c.7379A>G (p.His2460Arg)
c.7349A>G (p.His2450Arg)
c.7274A>G (p.His2425Arg)
c.7172A>G (p.His2391Arg)
c.6803A>G (p.His2268Arg)
ClinVar dbSNP gnomAD v4
5g.112843246A>TCA16037955APCc.7706A>T (p.His2569Leu)
c.*7658A>T (n.*7658A>T)
c.7598A>T (p.His2533Leu)
c.7652A>T (p.His2551Leu)
c.231-13403A>T
c.7682A>T (p.His2561Leu)
c.7577A>T (p.His2526Leu)
c.7568A>T (p.His2523Leu)
c.7529A>T (p.His2510Leu)
c.7475A>T (p.His2492Leu)
c.7379A>T (p.His2460Leu)
c.7349A>T (p.His2450Leu)
c.7274A>T (p.His2425Leu)
c.7172A>T (p.His2391Leu)
c.6803A>T (p.His2268Leu)
ClinVar dbSNP
5g.112843247C>ACA16037956APCc.7707C>A (p.His2569Gln)
c.*7659C>A (n.*7659C>A)
c.7599C>A (p.His2533Gln)
c.7653C>A (p.His2551Gln)
c.231-13402C>A
c.7683C>A (p.His2561Gln)
c.7578C>A (p.His2526Gln)
c.7569C>A (p.His2523Gln)
c.7530C>A (p.His2510Gln)
c.7476C>A (p.His2492Gln)
c.7380C>A (p.His2460Gln)
c.7350C>A (p.His2450Gln)
c.7275C>A (p.His2425Gln)
c.7173C>A (p.His2391Gln)
c.6804C>A (p.His2268Gln)
dbSNP
5g.112843247C=CA1573472682APCc.7707C= (p.His2569=)
c.*7659C= (n.*7659C=)
c.7599C= (p.His2533=)
c.7653C= (p.His2551=)
c.231-13402C=
c.7683C= (p.His2561=)
c.7578C= (p.His2526=)
c.7569C= (p.His2523=)
c.7530C= (p.His2510=)
c.7476C= (p.His2492=)
c.7380C= (p.His2460=)
c.7350C= (p.His2450=)
c.7275C= (p.His2425=)
c.7173C= (p.His2391=)
c.6804C= (p.His2268=)
5g.112843247C>GCA16037957APCc.7707C>G (p.His2569Gln)
c.*7659C>G (n.*7659C>G)
c.7599C>G (p.His2533Gln)
c.7653C>G (p.His2551Gln)
c.231-13402C>G
c.7683C>G (p.His2561Gln)
c.7578C>G (p.His2526Gln)
c.7569C>G (p.His2523Gln)
c.7530C>G (p.His2510Gln)
c.7476C>G (p.His2492Gln)
c.7380C>G (p.His2460Gln)
c.7350C>G (p.His2450Gln)
c.7275C>G (p.His2425Gln)
c.7173C>G (p.His2391Gln)
c.6804C>G (p.His2268Gln)
dbSNP
5g.112843247C>TCA446211111APCc.7707C>T (p.His2569=)
c.*7659C>T (n.*7659C>T)
c.7599C>T (p.His2533=)
c.7653C>T (p.His2551=)
c.231-13402C>T
c.7683C>T (p.His2561=)
c.7578C>T (p.His2526=)
c.7569C>T (p.His2523=)
c.7530C>T (p.His2510=)
c.7476C>T (p.His2492=)
c.7380C>T (p.His2460=)
c.7350C>T (p.His2450=)
c.7275C>T (p.His2425=)
c.7173C>T (p.His2391=)
c.6804C>T (p.His2268=)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112843248A=CA1573472687APCc.7708A= (p.Ser2570=)
c.*7660A= (n.*7660A=)
c.7600A= (p.Ser2534=)
c.7654A= (p.Ser2552=)
c.231-13401A=
c.7684A= (p.Ser2562=)
c.7579A= (p.Ser2527=)
c.7570A= (p.Ser2524=)
c.7531A= (p.Ser2511=)
c.7477A= (p.Ser2493=)
c.7381A= (p.Ser2461=)
c.7351A= (p.Ser2451=)
c.7276A= (p.Ser2426=)
c.7174A= (p.Ser2392=)
c.6805A= (p.Ser2269=)
5g.112843248A>CCA16037958APCc.7708A>C (p.Ser2570Arg)
c.*7660A>C (n.*7660A>C)
c.7600A>C (p.Ser2534Arg)
c.7654A>C (p.Ser2552Arg)
c.231-13401A>C
c.7684A>C (p.Ser2562Arg)
c.7579A>C (p.Ser2527Arg)
c.7570A>C (p.Ser2524Arg)
c.7531A>C (p.Ser2511Arg)
c.7477A>C (p.Ser2493Arg)
c.7381A>C (p.Ser2461Arg)
c.7351A>C (p.Ser2451Arg)
c.7276A>C (p.Ser2426Arg)
c.7174A>C (p.Ser2392Arg)
c.6805A>C (p.Ser2269Arg)
5g.112843248A>GCA16037959APCc.7708A>G (p.Ser2570Gly)
c.*7660A>G (n.*7660A>G)
c.7600A>G (p.Ser2534Gly)
c.7654A>G (p.Ser2552Gly)
c.231-13401A>G
c.7684A>G (p.Ser2562Gly)
c.7579A>G (p.Ser2527Gly)
c.7570A>G (p.Ser2524Gly)
c.7531A>G (p.Ser2511Gly)
c.7477A>G (p.Ser2493Gly)
c.7381A>G (p.Ser2461Gly)
c.7351A>G (p.Ser2451Gly)
c.7276A>G (p.Ser2426Gly)
c.7174A>G (p.Ser2392Gly)
c.6805A>G (p.Ser2269Gly)
ClinVar dbSNP
5g.112843248A>TCA16037960APCc.7708A>T (p.Ser2570Cys)
c.*7660A>T (n.*7660A>T)
c.7600A>T (p.Ser2534Cys)
c.7654A>T (p.Ser2552Cys)
c.231-13401A>T
c.7684A>T (p.Ser2562Cys)
c.7579A>T (p.Ser2527Cys)
c.7570A>T (p.Ser2524Cys)
c.7531A>T (p.Ser2511Cys)
c.7477A>T (p.Ser2493Cys)
c.7381A>T (p.Ser2461Cys)
c.7351A>T (p.Ser2451Cys)
c.7276A>T (p.Ser2426Cys)
c.7174A>T (p.Ser2392Cys)
c.6805A>T (p.Ser2269Cys)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112843249G>ACA16037961APCc.7709G>A (p.Ser2570Asn)
c.*7661G>A (n.*7661G>A)
c.7601G>A (p.Ser2534Asn)
c.7655G>A (p.Ser2552Asn)
c.231-13400G>A
c.7685G>A (p.Ser2562Asn)
c.7580G>A (p.Ser2527Asn)
c.7571G>A (p.Ser2524Asn)
c.7532G>A (p.Ser2511Asn)
c.7478G>A (p.Ser2493Asn)
c.7382G>A (p.Ser2461Asn)
c.7352G>A (p.Ser2451Asn)
c.7277G>A (p.Ser2426Asn)
c.7175G>A (p.Ser2392Asn)
c.6806G>A (p.Ser2269Asn)
dbSNP
5g.112843249G>CCA16037962APCc.7709G>C (p.Ser2570Thr)
c.*7661G>C (n.*7661G>C)
c.7601G>C (p.Ser2534Thr)
c.7655G>C (p.Ser2552Thr)
c.231-13400G>C
c.7685G>C (p.Ser2562Thr)
c.7580G>C (p.Ser2527Thr)
c.7571G>C (p.Ser2524Thr)
c.7532G>C (p.Ser2511Thr)
c.7478G>C (p.Ser2493Thr)
c.7382G>C (p.Ser2461Thr)
c.7352G>C (p.Ser2451Thr)
c.7277G>C (p.Ser2426Thr)
c.7175G>C (p.Ser2392Thr)
c.6806G>C (p.Ser2269Thr)
dbSNP
5g.112843249G>TCA16037963APCc.7709G>T (p.Ser2570Ile)
c.*7661G>T (n.*7661G>T)
c.7601G>T (p.Ser2534Ile)
c.7655G>T (p.Ser2552Ile)
c.231-13400G>T
c.7685G>T (p.Ser2562Ile)
c.7580G>T (p.Ser2527Ile)
c.7571G>T (p.Ser2524Ile)
c.7532G>T (p.Ser2511Ile)
c.7478G>T (p.Ser2493Ile)
c.7382G>T (p.Ser2461Ile)
c.7352G>T (p.Ser2451Ile)
c.7277G>T (p.Ser2426Ile)
c.7175G>T (p.Ser2392Ile)
c.6806G>T (p.Ser2269Ile)
5g.112843250C>ACA16037964APCc.7710C>A (p.Ser2570Arg)
c.*7662C>A (n.*7662C>A)
c.7602C>A (p.Ser2534Arg)
c.7656C>A (p.Ser2552Arg)
c.231-13399C>A
c.7686C>A (p.Ser2562Arg)
c.7581C>A (p.Ser2527Arg)
c.7572C>A (p.Ser2524Arg)
c.7533C>A (p.Ser2511Arg)
c.7479C>A (p.Ser2493Arg)
c.7383C>A (p.Ser2461Arg)
c.7353C>A (p.Ser2451Arg)
c.7278C>A (p.Ser2426Arg)
c.7176C>A (p.Ser2392Arg)
c.6807C>A (p.Ser2269Arg)
dbSNP
5g.112843250C>GCA16037965APCc.7710C>G (p.Ser2570Arg)
c.*7662C>G (n.*7662C>G)
c.7602C>G (p.Ser2534Arg)
c.7656C>G (p.Ser2552Arg)
c.231-13399C>G
c.7686C>G (p.Ser2562Arg)
c.7581C>G (p.Ser2527Arg)
c.7572C>G (p.Ser2524Arg)
c.7533C>G (p.Ser2511Arg)
c.7479C>G (p.Ser2493Arg)
c.7383C>G (p.Ser2461Arg)
c.7353C>G (p.Ser2451Arg)
c.7278C>G (p.Ser2426Arg)
c.7176C>G (p.Ser2392Arg)
c.6807C>G (p.Ser2269Arg)
5g.112843250C>TCA446211112APCc.7710C>T (p.Ser2570=)
c.*7662C>T (n.*7662C>T)
c.7602C>T (p.Ser2534=)
c.7656C>T (p.Ser2552=)
c.231-13399C>T
c.7686C>T (p.Ser2562=)
c.7581C>T (p.Ser2527=)
c.7572C>T (p.Ser2524=)
c.7533C>T (p.Ser2511=)
c.7479C>T (p.Ser2493=)
c.7383C>T (p.Ser2461=)
c.7353C>T (p.Ser2451=)
c.7278C>T (p.Ser2426=)
c.7176C>T (p.Ser2392=)
c.6807C>T (p.Ser2269=)
5g.112843252_112843255dupCA2697546406APCc.7712_7715dup (p.His2572GlnfsTer30)
c.*7664_*7667dup (n.*7664_*7667dup)
c.7604_7607dup (p.His2536GlnfsTer30)
c.7658_7661dup (p.His2554GlnfsTer30)
c.231-13397_231-13394dup
c.7688_7691dup (p.His2564GlnfsTer30)
c.7583_7586dup (p.His2529GlnfsTer30)
c.7574_7577dup (p.His2526GlnfsTer30)
c.7535_7538dup (p.His2513GlnfsTer30)
c.7481_7484dup (p.His2495GlnfsTer30)
c.7385_7388dup (p.His2463GlnfsTer30)
c.7355_7358dup (p.His2453GlnfsTer30)
c.7280_7283dup (p.His2428GlnfsTer30)
c.7178_7181dup (p.His2394GlnfsTer30)
c.6809_6812dup (p.His2271GlnfsTer30)
ClinVar
5g.112843251A=CA1573472703APCc.7711A= (p.Lys2571=)
c.*7663A= (n.*7663A=)
c.7603A= (p.Lys2535=)
c.7657A= (p.Lys2553=)
c.231-13398A=
c.7687A= (p.Lys2563=)
c.7582A= (p.Lys2528=)
c.7573A= (p.Lys2525=)
c.7534A= (p.Lys2512=)
c.7480A= (p.Lys2494=)
c.7384A= (p.Lys2462=)
c.7354A= (p.Lys2452=)
c.7279A= (p.Lys2427=)
c.7177A= (p.Lys2393=)
c.6808A= (p.Lys2270=)
5g.112843251A>CCA338557APCc.7711A>C (p.Lys2571Gln)
c.*7663A>C (n.*7663A>C)
c.7603A>C (p.Lys2535Gln)
c.7657A>C (p.Lys2553Gln)
c.231-13398A>C
c.7687A>C (p.Lys2563Gln)
c.7582A>C (p.Lys2528Gln)
c.7573A>C (p.Lys2525Gln)
c.7534A>C (p.Lys2512Gln)
c.7480A>C (p.Lys2494Gln)
c.7384A>C (p.Lys2462Gln)
c.7354A>C (p.Lys2452Gln)
c.7279A>C (p.Lys2427Gln)
c.7177A>C (p.Lys2393Gln)
c.6808A>C (p.Lys2270Gln)
ClinVar dbSNP gnomAD v4
5g.112843251A>GCA048861APCc.7711A>G (p.Lys2571Glu)
c.*7663A>G (n.*7663A>G)
c.7603A>G (p.Lys2535Glu)
c.7657A>G (p.Lys2553Glu)
c.231-13398A>G
c.7687A>G (p.Lys2563Glu)
c.7582A>G (p.Lys2528Glu)
c.7573A>G (p.Lys2525Glu)
c.7534A>G (p.Lys2512Glu)
c.7480A>G (p.Lys2494Glu)
c.7384A>G (p.Lys2462Glu)
c.7354A>G (p.Lys2452Glu)
c.7279A>G (p.Lys2427Glu)
c.7177A>G (p.Lys2393Glu)
c.6808A>G (p.Lys2270Glu)
ClinVar dbSNP ExAC gnomAD v2
5g.112843251A>TCA16037966APCc.7711A>T (p.Lys2571Ter)
c.*7663A>T (n.*7663A>T)
c.7603A>T (p.Lys2535Ter)
c.7657A>T (p.Lys2553Ter)
c.231-13398A>T
c.7687A>T (p.Lys2563Ter)
c.7582A>T (p.Lys2528Ter)
c.7573A>T (p.Lys2525Ter)
c.7534A>T (p.Lys2512Ter)
c.7480A>T (p.Lys2494Ter)
c.7384A>T (p.Lys2462Ter)
c.7354A>T (p.Lys2452Ter)
c.7279A>T (p.Lys2427Ter)
c.7177A>T (p.Lys2393Ter)
c.6808A>T (p.Lys2270Ter)
dbSNP
5g.112843252A>CCA16037967APCc.7712A>C (p.Lys2571Thr)
c.*7664A>C (n.*7664A>C)
c.7604A>C (p.Lys2535Thr)
c.7658A>C (p.Lys2553Thr)
c.231-13397A>C
c.7688A>C (p.Lys2563Thr)
c.7583A>C (p.Lys2528Thr)
c.7574A>C (p.Lys2525Thr)
c.7535A>C (p.Lys2512Thr)
c.7481A>C (p.Lys2494Thr)
c.7385A>C (p.Lys2462Thr)
c.7355A>C (p.Lys2452Thr)
c.7280A>C (p.Lys2427Thr)
c.7178A>C (p.Lys2393Thr)
c.6809A>C (p.Lys2270Thr)
dbSNP
5g.112843252A>GCA16037968APCc.7712A>G (p.Lys2571Arg)
c.*7664A>G (n.*7664A>G)
c.7604A>G (p.Lys2535Arg)
c.7658A>G (p.Lys2553Arg)
c.231-13397A>G
c.7688A>G (p.Lys2563Arg)
c.7583A>G (p.Lys2528Arg)
c.7574A>G (p.Lys2525Arg)
c.7535A>G (p.Lys2512Arg)
c.7481A>G (p.Lys2494Arg)
c.7385A>G (p.Lys2462Arg)
c.7355A>G (p.Lys2452Arg)
c.7280A>G (p.Lys2427Arg)
c.7178A>G (p.Lys2393Arg)
c.6809A>G (p.Lys2270Arg)
ClinVar dbSNP
5g.112843252A>TCA16037969APCc.7712A>T (p.Lys2571Ile)
c.*7664A>T (n.*7664A>T)
c.7604A>T (p.Lys2535Ile)
c.7658A>T (p.Lys2553Ile)
c.231-13397A>T
c.7688A>T (p.Lys2563Ile)
c.7583A>T (p.Lys2528Ile)
c.7574A>T (p.Lys2525Ile)
c.7535A>T (p.Lys2512Ile)
c.7481A>T (p.Lys2494Ile)
c.7385A>T (p.Lys2462Ile)
c.7355A>T (p.Lys2452Ile)
c.7280A>T (p.Lys2427Ile)
c.7178A>T (p.Lys2393Ile)
c.6809A>T (p.Lys2270Ile)
dbSNP
5g.112843253A>CCA16037970APCc.7713A>C (p.Lys2571Asn)
c.*7665A>C (n.*7665A>C)
c.7605A>C (p.Lys2535Asn)
c.7659A>C (p.Lys2553Asn)
c.231-13396A>C
c.7689A>C (p.Lys2563Asn)
c.7584A>C (p.Lys2528Asn)
c.7575A>C (p.Lys2525Asn)
c.7536A>C (p.Lys2512Asn)
c.7482A>C (p.Lys2494Asn)
c.7386A>C (p.Lys2462Asn)
c.7356A>C (p.Lys2452Asn)
c.7281A>C (p.Lys2427Asn)
c.7179A>C (p.Lys2393Asn)
c.6810A>C (p.Lys2270Asn)
dbSNP
5g.112843253A>GCA446211113APCc.7713A>G (p.Lys2571=)
c.*7665A>G (n.*7665A>G)
c.7605A>G (p.Lys2535=)
c.7659A>G (p.Lys2553=)
c.231-13396A>G
c.7689A>G (p.Lys2563=)
c.7584A>G (p.Lys2528=)
c.7575A>G (p.Lys2525=)
c.7536A>G (p.Lys2512=)
c.7482A>G (p.Lys2494=)
c.7386A>G (p.Lys2462=)
c.7356A>G (p.Lys2452=)
c.7281A>G (p.Lys2427=)
c.7179A>G (p.Lys2393=)
c.6810A>G (p.Lys2270=)
gnomAD v4
5g.112843253A>TCA16037971APCc.7713A>T (p.Lys2571Asn)
c.*7665A>T (n.*7665A>T)
c.7605A>T (p.Lys2535Asn)
c.7659A>T (p.Lys2553Asn)
c.231-13396A>T
c.7689A>T (p.Lys2563Asn)
c.7584A>T (p.Lys2528Asn)
c.7575A>T (p.Lys2525Asn)
c.7536A>T (p.Lys2512Asn)
c.7482A>T (p.Lys2494Asn)
c.7386A>T (p.Lys2462Asn)
c.7356A>T (p.Lys2452Asn)
c.7281A>T (p.Lys2427Asn)
c.7179A>T (p.Lys2393Asn)
c.6810A>T (p.Lys2270Asn)
dbSNP
5g.112843254C>ACA16037972APCc.7714C>A (p.His2572Asn)
c.*7666C>A (n.*7666C>A)
c.7606C>A (p.His2536Asn)
c.7660C>A (p.His2554Asn)
c.231-13395C>A
c.7690C>A (p.His2564Asn)
c.7585C>A (p.His2529Asn)
c.7576C>A (p.His2526Asn)
c.7537C>A (p.His2513Asn)
c.7483C>A (p.His2495Asn)
c.7387C>A (p.His2463Asn)
c.7357C>A (p.His2453Asn)
c.7282C>A (p.His2428Asn)
c.7180C>A (p.His2394Asn)
c.6811C>A (p.His2271Asn)
ClinVar gnomAD v4
5g.112843254C=CA1573472714APCc.7714C= (p.His2572=)
c.*7666C= (n.*7666C=)
c.7606C= (p.His2536=)
c.7660C= (p.His2554=)
c.231-13395C=
c.7690C= (p.His2564=)
c.7585C= (p.His2529=)
c.7576C= (p.His2526=)
c.7537C= (p.His2513=)
c.7483C= (p.His2495=)
c.7387C= (p.His2463=)
c.7357C= (p.His2453=)
c.7282C= (p.His2428=)
c.7180C= (p.His2394=)
c.6811C= (p.His2271=)
5g.112843254C>GCA16037973APCc.7714C>G (p.His2572Asp)
c.*7666C>G (n.*7666C>G)
c.7606C>G (p.His2536Asp)
c.7660C>G (p.His2554Asp)
c.231-13395C>G
c.7690C>G (p.His2564Asp)
c.7585C>G (p.His2529Asp)
c.7576C>G (p.His2526Asp)
c.7537C>G (p.His2513Asp)
c.7483C>G (p.His2495Asp)
c.7387C>G (p.His2463Asp)
c.7357C>G (p.His2453Asp)
c.7282C>G (p.His2428Asp)
c.7180C>G (p.His2394Asp)
c.6811C>G (p.His2271Asp)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112843254C>TCA16037974APCc.7714C>T (p.His2572Tyr)
c.*7666C>T (n.*7666C>T)
c.7606C>T (p.His2536Tyr)
c.7660C>T (p.His2554Tyr)
c.231-13395C>T
c.7690C>T (p.His2564Tyr)
c.7585C>T (p.His2529Tyr)
c.7576C>T (p.His2526Tyr)
c.7537C>T (p.His2513Tyr)
c.7483C>T (p.His2495Tyr)
c.7387C>T (p.His2463Tyr)
c.7357C>T (p.His2453Tyr)
c.7282C>T (p.His2428Tyr)
c.7180C>T (p.His2394Tyr)
c.6811C>T (p.His2271Tyr)
ClinVar dbSNP gnomAD v4
5g.112843257_112843260delCA2582341631APCc.7717_7720del (p.Ser2573HisfsTer6)
c.*7669_*7672del (n.*7669_*7672del)
c.7609_7612del (p.Ser2537HisfsTer6)
c.7663_7666del (p.Ser2555HisfsTer6)
c.231-13392_231-13389del
c.7693_7696del (p.Ser2565HisfsTer6)
c.7588_7591del (p.Ser2530HisfsTer6)
c.7579_7582del (p.Ser2527HisfsTer6)
c.7540_7543del (p.Ser2514HisfsTer6)
c.7486_7489del (p.Ser2496HisfsTer6)
c.7390_7393del (p.Ser2464HisfsTer6)
c.7360_7363del (p.Ser2454HisfsTer6)
c.7285_7288del (p.Ser2429HisfsTer6)
c.7183_7186del (p.Ser2395HisfsTer6)
c.6814_6817del (p.Ser2272HisfsTer6)
ClinVar
5g.112843255A>CCA16037975APCc.7715A>C (p.His2572Pro)
c.*7667A>C (n.*7667A>C)
c.7607A>C (p.His2536Pro)
c.7661A>C (p.His2554Pro)
c.231-13394A>C
c.7691A>C (p.His2564Pro)
c.7586A>C (p.His2529Pro)
c.7577A>C (p.His2526Pro)
c.7538A>C (p.His2513Pro)
c.7484A>C (p.His2495Pro)
c.7388A>C (p.His2463Pro)
c.7358A>C (p.His2453Pro)
c.7283A>C (p.His2428Pro)
c.7181A>C (p.His2394Pro)
c.6812A>C (p.His2271Pro)
dbSNP
5g.112843255A>GCA16037976APCc.7715A>G (p.His2572Arg)
c.*7667A>G (n.*7667A>G)
c.7607A>G (p.His2536Arg)
c.7661A>G (p.His2554Arg)
c.231-13394A>G
c.7691A>G (p.His2564Arg)
c.7586A>G (p.His2529Arg)
c.7577A>G (p.His2526Arg)
c.7538A>G (p.His2513Arg)
c.7484A>G (p.His2495Arg)
c.7388A>G (p.His2463Arg)
c.7358A>G (p.His2453Arg)
c.7283A>G (p.His2428Arg)
c.7181A>G (p.His2394Arg)
c.6812A>G (p.His2271Arg)
ClinVar dbSNP
5g.112843255A>TCA16037977APCc.7715A>T (p.His2572Leu)
c.*7667A>T (n.*7667A>T)
c.7607A>T (p.His2536Leu)
c.7661A>T (p.His2554Leu)
c.231-13394A>T
c.7691A>T (p.His2564Leu)
c.7586A>T (p.His2529Leu)
c.7577A>T (p.His2526Leu)
c.7538A>T (p.His2513Leu)
c.7484A>T (p.His2495Leu)
c.7388A>T (p.His2463Leu)
c.7358A>T (p.His2453Leu)
c.7283A>T (p.His2428Leu)
c.7181A>T (p.His2394Leu)
c.6812A>T (p.His2271Leu)
ClinVar dbSNP
5g.112843256T>ACA16037978APCc.7716T>A (p.His2572Gln)
c.*7668T>A (n.*7668T>A)
c.7608T>A (p.His2536Gln)
c.7662T>A (p.His2554Gln)
c.231-13393T>A
c.7692T>A (p.His2564Gln)
c.7587T>A (p.His2529Gln)
c.7578T>A (p.His2526Gln)
c.7539T>A (p.His2513Gln)
c.7485T>A (p.His2495Gln)
c.7389T>A (p.His2463Gln)
c.7359T>A (p.His2453Gln)
c.7284T>A (p.His2428Gln)
c.7182T>A (p.His2394Gln)
c.6813T>A (p.His2271Gln)
5g.112843256T>CCA446211114APCc.7716T>C (p.His2572=)
c.*7668T>C (n.*7668T>C)
c.7608T>C (p.His2536=)
c.7662T>C (p.His2554=)
c.231-13393T>C
c.7692T>C (p.His2564=)
c.7587T>C (p.His2529=)
c.7578T>C (p.His2526=)
c.7539T>C (p.His2513=)
c.7485T>C (p.His2495=)
c.7389T>C (p.His2463=)
c.7359T>C (p.His2453=)
c.7284T>C (p.His2428=)
c.7182T>C (p.His2394=)
c.6813T>C (p.His2271=)
ClinVar
5g.112843256T>GCA16037979APCc.7716T>G (p.His2572Gln)
c.*7668T>G (n.*7668T>G)
c.7608T>G (p.His2536Gln)
c.7662T>G (p.His2554Gln)
c.231-13393T>G
c.7692T>G (p.His2564Gln)
c.7587T>G (p.His2529Gln)
c.7578T>G (p.His2526Gln)
c.7539T>G (p.His2513Gln)
c.7485T>G (p.His2495Gln)
c.7389T>G (p.His2463Gln)
c.7359T>G (p.His2453Gln)
c.7284T>G (p.His2428Gln)
c.7182T>G (p.His2394Gln)
c.6813T>G (p.His2271Gln)
ClinVar dbSNP gnomAD v2
5g.112843256T=CA1573472719APCc.7716T= (p.His2572=)
c.*7668T= (n.*7668T=)
c.7608T= (p.His2536=)
c.7662T= (p.His2554=)
c.231-13393T=
c.7692T= (p.His2564=)
c.7587T= (p.His2529=)
c.7578T= (p.His2526=)
c.7539T= (p.His2513=)
c.7485T= (p.His2495=)
c.7389T= (p.His2463=)
c.7359T= (p.His2453=)
c.7284T= (p.His2428=)
c.7182T= (p.His2394=)
c.6813T= (p.His2271=)
5g.112843257T>ACA048879APCc.7717T>A (p.Ser2573Thr)
c.*7669T>A (n.*7669T>A)
c.7609T>A (p.Ser2537Thr)
c.7663T>A (p.Ser2555Thr)
c.231-13392T>A
c.7693T>A (p.Ser2565Thr)
c.7588T>A (p.Ser2530Thr)
c.7579T>A (p.Ser2527Thr)
c.7540T>A (p.Ser2514Thr)
c.7486T>A (p.Ser2496Thr)
c.7390T>A (p.Ser2464Thr)
c.7360T>A (p.Ser2454Thr)
c.7285T>A (p.Ser2429Thr)
c.7183T>A (p.Ser2395Thr)
c.6814T>A (p.Ser2272Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843257T>CCA16037980APCc.7717T>C (p.Ser2573Pro)
c.*7669T>C (n.*7669T>C)
c.7609T>C (p.Ser2537Pro)
c.7663T>C (p.Ser2555Pro)
c.231-13392T>C
c.7693T>C (p.Ser2565Pro)
c.7588T>C (p.Ser2530Pro)
c.7579T>C (p.Ser2527Pro)
c.7540T>C (p.Ser2514Pro)
c.7486T>C (p.Ser2496Pro)
c.7390T>C (p.Ser2464Pro)
c.7360T>C (p.Ser2454Pro)
c.7285T>C (p.Ser2429Pro)
c.7183T>C (p.Ser2395Pro)
c.6814T>C (p.Ser2272Pro)
ClinVar dbSNP
5g.112843257T>GCA16037981APCc.7717T>G (p.Ser2573Ala)
c.*7669T>G (n.*7669T>G)
c.7609T>G (p.Ser2537Ala)
c.7663T>G (p.Ser2555Ala)
c.231-13392T>G
c.7693T>G (p.Ser2565Ala)
c.7588T>G (p.Ser2530Ala)
c.7579T>G (p.Ser2527Ala)
c.7540T>G (p.Ser2514Ala)
c.7486T>G (p.Ser2496Ala)
c.7390T>G (p.Ser2464Ala)
c.7360T>G (p.Ser2454Ala)
c.7285T>G (p.Ser2429Ala)
c.7183T>G (p.Ser2395Ala)
c.6814T>G (p.Ser2272Ala)
ClinVar
5g.112843257T=CA1573472734APCc.7717T= (p.Ser2573=)
c.*7669T= (n.*7669T=)
c.7609T= (p.Ser2537=)
c.7663T= (p.Ser2555=)
c.231-13392T=
c.7693T= (p.Ser2565=)
c.7588T= (p.Ser2530=)
c.7579T= (p.Ser2527=)
c.7540T= (p.Ser2514=)
c.7486T= (p.Ser2496=)
c.7390T= (p.Ser2464=)
c.7360T= (p.Ser2454=)
c.7285T= (p.Ser2429=)
c.7183T= (p.Ser2395=)
c.6814T= (p.Ser2272=)
5g.112843258C>ACA16037982APCc.7718C>A (p.Ser2573Ter)
c.*7670C>A (n.*7670C>A)
c.7610C>A (p.Ser2537Ter)
c.7664C>A (p.Ser2555Ter)
c.231-13391C>A
c.7694C>A (p.Ser2565Ter)
c.7589C>A (p.Ser2530Ter)
c.7580C>A (p.Ser2527Ter)
c.7541C>A (p.Ser2514Ter)
c.7487C>A (p.Ser2496Ter)
c.7391C>A (p.Ser2464Ter)
c.7361C>A (p.Ser2454Ter)
c.7286C>A (p.Ser2429Ter)
c.7184C>A (p.Ser2395Ter)
c.6815C>A (p.Ser2272Ter)
ClinVar dbSNP COSMIC
5g.112843258C=CA1573472741APCc.7718C= (p.Ser2573=)
c.*7670C= (n.*7670C=)
c.7610C= (p.Ser2537=)
c.7664C= (p.Ser2555=)
c.231-13391C=
c.7694C= (p.Ser2565=)
c.7589C= (p.Ser2530=)
c.7580C= (p.Ser2527=)
c.7541C= (p.Ser2514=)
c.7487C= (p.Ser2496=)
c.7391C= (p.Ser2464=)
c.7361C= (p.Ser2454=)
c.7286C= (p.Ser2429=)
c.7184C= (p.Ser2395=)
c.6815C= (p.Ser2272=)
5g.112843258C>GCA16037983APCc.7718C>G (p.Ser2573Ter)
c.*7670C>G (n.*7670C>G)
c.7610C>G (p.Ser2537Ter)
c.7664C>G (p.Ser2555Ter)
c.231-13391C>G
c.7694C>G (p.Ser2565Ter)
c.7589C>G (p.Ser2530Ter)
c.7580C>G (p.Ser2527Ter)
c.7541C>G (p.Ser2514Ter)
c.7487C>G (p.Ser2496Ter)
c.7391C>G (p.Ser2464Ter)
c.7361C>G (p.Ser2454Ter)
c.7286C>G (p.Ser2429Ter)
c.7184C>G (p.Ser2395Ter)
c.6815C>G (p.Ser2272Ter)
dbSNP
5g.112843258C>TCA16037984APCc.7718C>T (p.Ser2573Leu)
c.*7670C>T (n.*7670C>T)
c.7610C>T (p.Ser2537Leu)
c.7664C>T (p.Ser2555Leu)
c.231-13391C>T
c.7694C>T (p.Ser2565Leu)
c.7589C>T (p.Ser2530Leu)
c.7580C>T (p.Ser2527Leu)
c.7541C>T (p.Ser2514Leu)
c.7487C>T (p.Ser2496Leu)
c.7391C>T (p.Ser2464Leu)
c.7361C>T (p.Ser2454Leu)
c.7286C>T (p.Ser2429Leu)
c.7184C>T (p.Ser2395Leu)
c.6815C>T (p.Ser2272Leu)
ClinVar dbSNP
5g.112843259A=CA1573472756APCc.7719A= (p.Ser2573=)
c.*7671A= (n.*7671A=)
c.7611A= (p.Ser2537=)
c.7665A= (p.Ser2555=)
c.231-13390A=
c.7695A= (p.Ser2565=)
c.7590A= (p.Ser2530=)
c.7581A= (p.Ser2527=)
c.7542A= (p.Ser2514=)
c.7488A= (p.Ser2496=)
c.7392A= (p.Ser2464=)
c.7362A= (p.Ser2454=)
c.7287A= (p.Ser2429=)
c.7185A= (p.Ser2395=)
c.6816A= (p.Ser2272=)
5g.112843259A>CCA446211115APCc.7719A>C (p.Ser2573=)
c.*7671A>C (n.*7671A>C)
c.7611A>C (p.Ser2537=)
c.7665A>C (p.Ser2555=)
c.231-13390A>C
c.7695A>C (p.Ser2565=)
c.7590A>C (p.Ser2530=)
c.7581A>C (p.Ser2527=)
c.7542A>C (p.Ser2514=)
c.7488A>C (p.Ser2496=)
c.7392A>C (p.Ser2464=)
c.7362A>C (p.Ser2454=)
c.7287A>C (p.Ser2429=)
c.7185A>C (p.Ser2395=)
c.6816A>C (p.Ser2272=)
dbSNP
5g.112843259A>GCA446211116APCc.7719A>G (p.Ser2573=)
c.*7671A>G (n.*7671A>G)
c.7611A>G (p.Ser2537=)
c.7665A>G (p.Ser2555=)
c.231-13390A>G
c.7695A>G (p.Ser2565=)
c.7590A>G (p.Ser2530=)
c.7581A>G (p.Ser2527=)
c.7542A>G (p.Ser2514=)
c.7488A>G (p.Ser2496=)
c.7392A>G (p.Ser2464=)
c.7362A>G (p.Ser2454=)
c.7287A>G (p.Ser2429=)
c.7185A>G (p.Ser2395=)
c.6816A>G (p.Ser2272=)
ClinVar dbSNP gnomAD v4
5g.112843259A>TCA446211117APCc.7719A>T (p.Ser2573=)
c.*7671A>T (n.*7671A>T)
c.7611A>T (p.Ser2537=)
c.7665A>T (p.Ser2555=)
c.231-13390A>T
c.7695A>T (p.Ser2565=)
c.7590A>T (p.Ser2530=)
c.7581A>T (p.Ser2527=)
c.7542A>T (p.Ser2514=)
c.7488A>T (p.Ser2496=)
c.7392A>T (p.Ser2464=)
c.7362A>T (p.Ser2454=)
c.7287A>T (p.Ser2429=)
c.7185A>T (p.Ser2395=)
c.6816A>T (p.Ser2272=)
dbSNP
5g.112843260T>ACA16037985APCc.7720T>A (p.Ser2574Thr)
c.*7672T>A (n.*7672T>A)
c.7612T>A (p.Ser2538Thr)
c.7666T>A (p.Ser2556Thr)
c.231-13389T>A
c.7696T>A (p.Ser2566Thr)
c.7591T>A (p.Ser2531Thr)
c.7582T>A (p.Ser2528Thr)
c.7543T>A (p.Ser2515Thr)
c.7489T>A (p.Ser2497Thr)
c.7393T>A (p.Ser2465Thr)
c.7363T>A (p.Ser2455Thr)
c.7288T>A (p.Ser2430Thr)
c.7186T>A (p.Ser2396Thr)
c.6817T>A (p.Ser2273Thr)
dbSNP
5g.112843260T>CCA16037986APCc.7720T>C (p.Ser2574Pro)
c.*7672T>C (n.*7672T>C)
c.7612T>C (p.Ser2538Pro)
c.7666T>C (p.Ser2556Pro)
c.231-13389T>C
c.7696T>C (p.Ser2566Pro)
c.7591T>C (p.Ser2531Pro)
c.7582T>C (p.Ser2528Pro)
c.7543T>C (p.Ser2515Pro)
c.7489T>C (p.Ser2497Pro)
c.7393T>C (p.Ser2465Pro)
c.7363T>C (p.Ser2455Pro)
c.7288T>C (p.Ser2430Pro)
c.7186T>C (p.Ser2396Pro)
c.6817T>C (p.Ser2273Pro)
5g.112843260T>GCA16037987APCc.7720T>G (p.Ser2574Ala)
c.*7672T>G (n.*7672T>G)
c.7612T>G (p.Ser2538Ala)
c.7666T>G (p.Ser2556Ala)
c.231-13389T>G
c.7696T>G (p.Ser2566Ala)
c.7591T>G (p.Ser2531Ala)
c.7582T>G (p.Ser2528Ala)
c.7543T>G (p.Ser2515Ala)
c.7489T>G (p.Ser2497Ala)
c.7393T>G (p.Ser2465Ala)
c.7363T>G (p.Ser2455Ala)
c.7288T>G (p.Ser2430Ala)
c.7186T>G (p.Ser2396Ala)
c.6817T>G (p.Ser2273Ala)
ClinVar dbSNP
5g.112843260T=CA1573472768APCc.7720T= (p.Ser2574=)
c.*7672T= (n.*7672T=)
c.7612T= (p.Ser2538=)
c.7666T= (p.Ser2556=)
c.231-13389T=
c.7696T= (p.Ser2566=)
c.7591T= (p.Ser2531=)
c.7582T= (p.Ser2528=)
c.7543T= (p.Ser2515=)
c.7489T= (p.Ser2497=)
c.7393T= (p.Ser2465=)
c.7363T= (p.Ser2455=)
c.7288T= (p.Ser2430=)
c.7186T= (p.Ser2396=)
c.6817T= (p.Ser2273=)
5g.112843261C>ACA16037988APCc.7721C>A (p.Ser2574Ter)
c.*7673C>A (n.*7673C>A)
c.7613C>A (p.Ser2538Ter)
c.7667C>A (p.Ser2556Ter)
c.231-13388C>A
c.7697C>A (p.Ser2566Ter)
c.7592C>A (p.Ser2531Ter)
c.7583C>A (p.Ser2528Ter)
c.7544C>A (p.Ser2515Ter)
c.7490C>A (p.Ser2497Ter)
c.7394C>A (p.Ser2465Ter)
c.7364C>A (p.Ser2455Ter)
c.7289C>A (p.Ser2430Ter)
c.7187C>A (p.Ser2396Ter)
c.6818C>A (p.Ser2273Ter)
5g.112843261C=CA1573472775APCc.7721C= (p.Ser2574=)
c.*7673C= (n.*7673C=)
c.7613C= (p.Ser2538=)
c.7667C= (p.Ser2556=)
c.231-13388C=
c.7697C= (p.Ser2566=)
c.7592C= (p.Ser2531=)
c.7583C= (p.Ser2528=)
c.7544C= (p.Ser2515=)
c.7490C= (p.Ser2497=)
c.7394C= (p.Ser2465=)
c.7364C= (p.Ser2455=)
c.7289C= (p.Ser2430=)
c.7187C= (p.Ser2396=)
c.6818C= (p.Ser2273=)
5g.112843261C>GCA16037989APCc.7721C>G (p.Ser2574Ter)
c.*7673C>G (n.*7673C>G)
c.7613C>G (p.Ser2538Ter)
c.7667C>G (p.Ser2556Ter)
c.231-13388C>G
c.7697C>G (p.Ser2566Ter)
c.7592C>G (p.Ser2531Ter)
c.7583C>G (p.Ser2528Ter)
c.7544C>G (p.Ser2515Ter)
c.7490C>G (p.Ser2497Ter)
c.7394C>G (p.Ser2465Ter)
c.7364C>G (p.Ser2455Ter)
c.7289C>G (p.Ser2430Ter)
c.7187C>G (p.Ser2396Ter)
c.6818C>G (p.Ser2273Ter)
5g.112843261C>TCA048890APCc.7721C>T (p.Ser2574Leu)
c.*7673C>T (n.*7673C>T)
c.7613C>T (p.Ser2538Leu)
c.7667C>T (p.Ser2556Leu)
c.231-13388C>T
c.7697C>T (p.Ser2566Leu)
c.7592C>T (p.Ser2531Leu)
c.7583C>T (p.Ser2528Leu)
c.7544C>T (p.Ser2515Leu)
c.7490C>T (p.Ser2497Leu)
c.7394C>T (p.Ser2465Leu)
c.7364C>T (p.Ser2455Leu)
c.7289C>T (p.Ser2430Leu)
c.7187C>T (p.Ser2396Leu)
c.6818C>T (p.Ser2273Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112843262A=CA1573472783APCc.7722A= (p.Ser2574=)
c.*7674A= (n.*7674A=)
c.7614A= (p.Ser2538=)
c.7668A= (p.Ser2556=)
c.231-13387A=
c.7698A= (p.Ser2566=)
c.7593A= (p.Ser2531=)
c.7584A= (p.Ser2528=)
c.7545A= (p.Ser2515=)
c.7491A= (p.Ser2497=)
c.7395A= (p.Ser2465=)
c.7365A= (p.Ser2455=)
c.7290A= (p.Ser2430=)
c.7188A= (p.Ser2396=)
c.6819A= (p.Ser2273=)
5g.112843262A>CCA446211118APCc.7722A>C (p.Ser2574=)
c.*7674A>C (n.*7674A>C)
c.7614A>C (p.Ser2538=)
c.7668A>C (p.Ser2556=)
c.231-13387A>C
c.7698A>C (p.Ser2566=)
c.7593A>C (p.Ser2531=)
c.7584A>C (p.Ser2528=)
c.7545A>C (p.Ser2515=)
c.7491A>C (p.Ser2497=)
c.7395A>C (p.Ser2465=)
c.7365A>C (p.Ser2455=)
c.7290A>C (p.Ser2430=)
c.7188A>C (p.Ser2396=)
c.6819A>C (p.Ser2273=)
dbSNP
5g.112843262A>GCA446211119APCc.7722A>G (p.Ser2574=)
c.*7674A>G (n.*7674A>G)
c.7614A>G (p.Ser2538=)
c.7668A>G (p.Ser2556=)
c.231-13387A>G
c.7698A>G (p.Ser2566=)
c.7593A>G (p.Ser2531=)
c.7584A>G (p.Ser2528=)
c.7545A>G (p.Ser2515=)
c.7491A>G (p.Ser2497=)
c.7395A>G (p.Ser2465=)
c.7365A>G (p.Ser2455=)
c.7290A>G (p.Ser2430=)
c.7188A>G (p.Ser2396=)
c.6819A>G (p.Ser2273=)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112843262A>TCA446211120APCc.7722A>T (p.Ser2574=)
c.*7674A>T (n.*7674A>T)
c.7614A>T (p.Ser2538=)
c.7668A>T (p.Ser2556=)
c.231-13387A>T
c.7698A>T (p.Ser2566=)
c.7593A>T (p.Ser2531=)
c.7584A>T (p.Ser2528=)
c.7545A>T (p.Ser2515=)
c.7491A>T (p.Ser2497=)
c.7395A>T (p.Ser2465=)
c.7365A>T (p.Ser2455=)
c.7290A>T (p.Ser2430=)
c.7188A>T (p.Ser2396=)
c.6819A>T (p.Ser2273=)
dbSNP
5g.112843263T>ACA16037990APCc.7723T>A (p.Ser2575Thr)
c.*7675T>A (n.*7675T>A)
c.7615T>A (p.Ser2539Thr)
c.7669T>A (p.Ser2557Thr)
c.231-13386T>A
c.7699T>A (p.Ser2567Thr)
c.7594T>A (p.Ser2532Thr)
c.7585T>A (p.Ser2529Thr)
c.7546T>A (p.Ser2516Thr)
c.7492T>A (p.Ser2498Thr)
c.7396T>A (p.Ser2466Thr)
c.7366T>A (p.Ser2456Thr)
c.7291T>A (p.Ser2431Thr)
c.7189T>A (p.Ser2397Thr)
c.6820T>A (p.Ser2274Thr)
ClinVar dbSNP
5g.112843263T>CCA16037991APCc.7723T>C (p.Ser2575Pro)
c.*7675T>C (n.*7675T>C)
c.7615T>C (p.Ser2539Pro)
c.7669T>C (p.Ser2557Pro)
c.231-13386T>C
c.7699T>C (p.Ser2567Pro)
c.7594T>C (p.Ser2532Pro)
c.7585T>C (p.Ser2529Pro)
c.7546T>C (p.Ser2516Pro)
c.7492T>C (p.Ser2498Pro)
c.7396T>C (p.Ser2466Pro)
c.7366T>C (p.Ser2456Pro)
c.7291T>C (p.Ser2431Pro)
c.7189T>C (p.Ser2397Pro)
c.6820T>C (p.Ser2274Pro)
ClinVar dbSNP
5g.112843263T>GCA16037992APCc.7723T>G (p.Ser2575Ala)
c.*7675T>G (n.*7675T>G)
c.7615T>G (p.Ser2539Ala)
c.7669T>G (p.Ser2557Ala)
c.231-13386T>G
c.7699T>G (p.Ser2567Ala)
c.7594T>G (p.Ser2532Ala)
c.7585T>G (p.Ser2529Ala)
c.7546T>G (p.Ser2516Ala)
c.7492T>G (p.Ser2498Ala)
c.7396T>G (p.Ser2466Ala)
c.7366T>G (p.Ser2456Ala)
c.7291T>G (p.Ser2431Ala)
c.7189T>G (p.Ser2397Ala)
c.6820T>G (p.Ser2274Ala)
ClinVar
5g.112843263T=CA1573472789APCc.7723T= (p.Ser2575=)
c.*7675T= (n.*7675T=)
c.7615T= (p.Ser2539=)
c.7669T= (p.Ser2557=)
c.231-13386T=
c.7699T= (p.Ser2567=)
c.7594T= (p.Ser2532=)
c.7585T= (p.Ser2529=)
c.7546T= (p.Ser2516=)
c.7492T= (p.Ser2498=)
c.7396T= (p.Ser2466=)
c.7366T= (p.Ser2456=)
c.7291T= (p.Ser2431=)
c.7189T= (p.Ser2397=)
c.6820T= (p.Ser2274=)
5g.112843265_112843272delCA658760644APCc.7725_7732del (p.Leu2576SerfsTer22)
c.*7677_*7684del (n.*7677_*7684del)
c.7617_7624del (p.Leu2540SerfsTer22)
c.7671_7678del (p.Leu2558SerfsTer22)
c.231-13384_231-13377del
c.7701_7708del (p.Leu2568SerfsTer22)
c.7596_7603del (p.Leu2533SerfsTer22)
c.7587_7594del (p.Leu2530SerfsTer22)
c.7548_7555del (p.Leu2517SerfsTer22)
c.7494_7501del (p.Leu2499SerfsTer22)
c.7398_7405del (p.Leu2467SerfsTer22)
c.7368_7375del (p.Leu2457SerfsTer22)
c.7293_7300del (p.Leu2432SerfsTer22)
c.7191_7198del (p.Leu2398SerfsTer22)
c.6822_6829del (p.Leu2275SerfsTer22)
5g.112843264C>ACA16037993APCc.7724C>A (p.Ser2575Tyr)
c.*7676C>A (n.*7676C>A)
c.7616C>A (p.Ser2539Tyr)
c.7670C>A (p.Ser2557Tyr)
c.231-13385C>A
c.7700C>A (p.Ser2567Tyr)
c.7595C>A (p.Ser2532Tyr)
c.7586C>A (p.Ser2529Tyr)
c.7547C>A (p.Ser2516Tyr)
c.7493C>A (p.Ser2498Tyr)
c.7397C>A (p.Ser2466Tyr)
c.7367C>A (p.Ser2456Tyr)
c.7292C>A (p.Ser2431Tyr)
c.7190C>A (p.Ser2397Tyr)
c.6821C>A (p.Ser2274Tyr)
ClinVar dbSNP
5g.112843264C=CA1573472797APCc.7724C= (p.Ser2575=)
c.*7676C= (n.*7676C=)
c.7616C= (p.Ser2539=)
c.7670C= (p.Ser2557=)
c.231-13385C=
c.7700C= (p.Ser2567=)
c.7595C= (p.Ser2532=)
c.7586C= (p.Ser2529=)
c.7547C= (p.Ser2516=)
c.7493C= (p.Ser2498=)
c.7397C= (p.Ser2466=)
c.7367C= (p.Ser2456=)
c.7292C= (p.Ser2431=)
c.7190C= (p.Ser2397=)
c.6821C= (p.Ser2274=)
5g.112843264C>GCA16037994APCc.7724C>G (p.Ser2575Cys)
c.*7676C>G (n.*7676C>G)
c.7616C>G (p.Ser2539Cys)
c.7670C>G (p.Ser2557Cys)
c.231-13385C>G
c.7700C>G (p.Ser2567Cys)
c.7595C>G (p.Ser2532Cys)
c.7586C>G (p.Ser2529Cys)
c.7547C>G (p.Ser2516Cys)
c.7493C>G (p.Ser2498Cys)
c.7397C>G (p.Ser2466Cys)
c.7367C>G (p.Ser2456Cys)
c.7292C>G (p.Ser2431Cys)
c.7190C>G (p.Ser2397Cys)
c.6821C>G (p.Ser2274Cys)
ClinVar dbSNP gnomAD v4
5g.112843264C>TCA16037995APCc.7724C>T (p.Ser2575Phe)
c.*7676C>T (n.*7676C>T)
c.7616C>T (p.Ser2539Phe)
c.7670C>T (p.Ser2557Phe)
c.231-13385C>T
c.7700C>T (p.Ser2567Phe)
c.7595C>T (p.Ser2532Phe)
c.7586C>T (p.Ser2529Phe)
c.7547C>T (p.Ser2516Phe)
c.7493C>T (p.Ser2498Phe)
c.7397C>T (p.Ser2466Phe)
c.7367C>T (p.Ser2456Phe)
c.7292C>T (p.Ser2431Phe)
c.7190C>T (p.Ser2397Phe)
c.6821C>T (p.Ser2274Phe)
ClinVar dbSNP
5g.112843265C>ACA446211121APCc.7725C>A (p.Ser2575=)
c.*7677C>A (n.*7677C>A)
c.7617C>A (p.Ser2539=)
c.7671C>A (p.Ser2557=)
c.231-13384C>A
c.7701C>A (p.Ser2567=)
c.7596C>A (p.Ser2532=)
c.7587C>A (p.Ser2529=)
c.7548C>A (p.Ser2516=)
c.7494C>A (p.Ser2498=)
c.7398C>A (p.Ser2466=)
c.7368C>A (p.Ser2456=)
c.7293C>A (p.Ser2431=)
c.7191C>A (p.Ser2397=)
c.6822C>A (p.Ser2274=)
dbSNP
5g.112843265C=CA1573472804APCc.7725C= (p.Ser2575=)
c.*7677C= (n.*7677C=)
c.7617C= (p.Ser2539=)
c.7671C= (p.Ser2557=)
c.231-13384C=
c.7701C= (p.Ser2567=)
c.7596C= (p.Ser2532=)
c.7587C= (p.Ser2529=)
c.7548C= (p.Ser2516=)
c.7494C= (p.Ser2498=)
c.7398C= (p.Ser2466=)
c.7368C= (p.Ser2456=)
c.7293C= (p.Ser2431=)
c.7191C= (p.Ser2397=)
c.6822C= (p.Ser2274=)
5g.112843265C>GCA446211122APCc.7725C>G (p.Ser2575=)
c.*7677C>G (n.*7677C>G)
c.7617C>G (p.Ser2539=)
c.7671C>G (p.Ser2557=)
c.231-13384C>G
c.7701C>G (p.Ser2567=)
c.7596C>G (p.Ser2532=)
c.7587C>G (p.Ser2529=)
c.7548C>G (p.Ser2516=)
c.7494C>G (p.Ser2498=)
c.7398C>G (p.Ser2466=)
c.7368C>G (p.Ser2456=)
c.7293C>G (p.Ser2431=)
c.7191C>G (p.Ser2397=)
c.6822C>G (p.Ser2274=)
ClinVar dbSNP
5g.112843265C>TCA446211123APCc.7725C>T (p.Ser2575=)
c.*7677C>T (n.*7677C>T)
c.7617C>T (p.Ser2539=)
c.7671C>T (p.Ser2557=)
c.231-13384C>T
c.7701C>T (p.Ser2567=)
c.7596C>T (p.Ser2532=)
c.7587C>T (p.Ser2529=)
c.7548C>T (p.Ser2516=)
c.7494C>T (p.Ser2498=)
c.7398C>T (p.Ser2466=)
c.7368C>T (p.Ser2456=)
c.7293C>T (p.Ser2431=)
c.7191C>T (p.Ser2397=)
c.6822C>T (p.Ser2274=)
dbSNP
5g.112843266C>ACA16037996APCc.7726C>A (p.Leu2576Ile)
c.*7678C>A (n.*7678C>A)
c.7618C>A (p.Leu2540Ile)
c.7672C>A (p.Leu2558Ile)
c.231-13383C>A
c.7702C>A (p.Leu2568Ile)
c.7597C>A (p.Leu2533Ile)
c.7588C>A (p.Leu2530Ile)
c.7549C>A (p.Leu2517Ile)
c.7495C>A (p.Leu2499Ile)
c.7399C>A (p.Leu2467Ile)
c.7369C>A (p.Leu2457Ile)
c.7294C>A (p.Leu2432Ile)
c.7192C>A (p.Leu2398Ile)
c.6823C>A (p.Leu2275Ile)
ClinVar dbSNP
5g.112843266C=CA1573472815APCc.7726C= (p.Leu2576=)
c.*7678C= (n.*7678C=)
c.7618C= (p.Leu2540=)
c.7672C= (p.Leu2558=)
c.231-13383C=
c.7702C= (p.Leu2568=)
c.7597C= (p.Leu2533=)
c.7588C= (p.Leu2530=)
c.7549C= (p.Leu2517=)
c.7495C= (p.Leu2499=)
c.7399C= (p.Leu2467=)
c.7369C= (p.Leu2457=)
c.7294C= (p.Leu2432=)
c.7192C= (p.Leu2398=)
c.6823C= (p.Leu2275=)
5g.112843266C>GCA048920APCc.7726C>G (p.Leu2576Val)
c.*7678C>G (n.*7678C>G)
c.7618C>G (p.Leu2540Val)
c.7672C>G (p.Leu2558Val)
c.231-13383C>G
c.7702C>G (p.Leu2568Val)
c.7597C>G (p.Leu2533Val)
c.7588C>G (p.Leu2530Val)
c.7549C>G (p.Leu2517Val)
c.7495C>G (p.Leu2499Val)
c.7399C>G (p.Leu2467Val)
c.7369C>G (p.Leu2457Val)
c.7294C>G (p.Leu2432Val)
c.7192C>G (p.Leu2398Val)
c.6823C>G (p.Leu2275Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112843266C>TCA16037997APCc.7726C>T (p.Leu2576Phe)
c.*7678C>T (n.*7678C>T)
c.7618C>T (p.Leu2540Phe)
c.7672C>T (p.Leu2558Phe)
c.231-13383C>T
c.7702C>T (p.Leu2568Phe)
c.7597C>T (p.Leu2533Phe)
c.7588C>T (p.Leu2530Phe)
c.7549C>T (p.Leu2517Phe)
c.7495C>T (p.Leu2499Phe)
c.7399C>T (p.Leu2467Phe)
c.7369C>T (p.Leu2457Phe)
c.7294C>T (p.Leu2432Phe)
c.7192C>T (p.Leu2398Phe)
c.6823C>T (p.Leu2275Phe)
ClinVar dbSNP
5g.112843267T>ACA16037998APCc.7727T>A (p.Leu2576His)
c.*7679T>A (n.*7679T>A)
c.7619T>A (p.Leu2540His)
c.7673T>A (p.Leu2558His)
c.231-13382T>A
c.7703T>A (p.Leu2568His)
c.7598T>A (p.Leu2533His)
c.7589T>A (p.Leu2530His)
c.7550T>A (p.Leu2517His)
c.7496T>A (p.Leu2499His)
c.7400T>A (p.Leu2467His)
c.7370T>A (p.Leu2457His)
c.7295T>A (p.Leu2432His)
c.7193T>A (p.Leu2398His)
c.6824T>A (p.Leu2275His)
dbSNP COSMIC
5g.112843267T>CCA16037999APCc.7727T>C (p.Leu2576Pro)
c.*7679T>C (n.*7679T>C)
c.7619T>C (p.Leu2540Pro)
c.7673T>C (p.Leu2558Pro)
c.231-13382T>C
c.7703T>C (p.Leu2568Pro)
c.7598T>C (p.Leu2533Pro)
c.7589T>C (p.Leu2530Pro)
c.7550T>C (p.Leu2517Pro)
c.7496T>C (p.Leu2499Pro)
c.7400T>C (p.Leu2467Pro)
c.7370T>C (p.Leu2457Pro)
c.7295T>C (p.Leu2432Pro)
c.7193T>C (p.Leu2398Pro)
c.6824T>C (p.Leu2275Pro)
dbSNP
5g.112843267T>GCA16038000APCc.7727T>G (p.Leu2576Arg)
c.*7679T>G (n.*7679T>G)
c.7619T>G (p.Leu2540Arg)
c.7673T>G (p.Leu2558Arg)
c.231-13382T>G
c.7703T>G (p.Leu2568Arg)
c.7598T>G (p.Leu2533Arg)
c.7589T>G (p.Leu2530Arg)
c.7550T>G (p.Leu2517Arg)
c.7496T>G (p.Leu2499Arg)
c.7400T>G (p.Leu2467Arg)
c.7370T>G (p.Leu2457Arg)
c.7295T>G (p.Leu2432Arg)
c.7193T>G (p.Leu2398Arg)
c.6824T>G (p.Leu2275Arg)
5g.112843268T>ACA446211124APCc.7728T>A (p.Leu2576=)
c.*7680T>A (n.*7680T>A)
c.7620T>A (p.Leu2540=)
c.7674T>A (p.Leu2558=)
c.231-13381T>A
c.7704T>A (p.Leu2568=)
c.7599T>A (p.Leu2533=)
c.7590T>A (p.Leu2530=)
c.7551T>A (p.Leu2517=)
c.7497T>A (p.Leu2499=)
c.7401T>A (p.Leu2467=)
c.7371T>A (p.Leu2457=)
c.7296T>A (p.Leu2432=)
c.7194T>A (p.Leu2398=)
c.6825T>A (p.Leu2275=)
dbSNP
5g.112843268T>CCA446211125APCc.7728T>C (p.Leu2576=)
c.*7680T>C (n.*7680T>C)
c.7620T>C (p.Leu2540=)
c.7674T>C (p.Leu2558=)
c.231-13381T>C
c.7704T>C (p.Leu2568=)
c.7599T>C (p.Leu2533=)
c.7590T>C (p.Leu2530=)
c.7551T>C (p.Leu2517=)
c.7497T>C (p.Leu2499=)
c.7401T>C (p.Leu2467=)
c.7371T>C (p.Leu2457=)
c.7296T>C (p.Leu2432=)
c.7194T>C (p.Leu2398=)
c.6825T>C (p.Leu2275=)
ClinVar
5g.112843268T>GCA048933APCc.7728T>G (p.Leu2576=)
c.*7680T>G (n.*7680T>G)
c.7620T>G (p.Leu2540=)
c.7674T>G (p.Leu2558=)
c.231-13381T>G
c.7704T>G (p.Leu2568=)
c.7599T>G (p.Leu2533=)
c.7590T>G (p.Leu2530=)
c.7551T>G (p.Leu2517=)
c.7497T>G (p.Leu2499=)
c.7401T>G (p.Leu2467=)
c.7371T>G (p.Leu2457=)
c.7296T>G (p.Leu2432=)
c.7194T>G (p.Leu2398=)
c.6825T>G (p.Leu2275=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112843268T=CA1573472831APCc.7728T= (p.Leu2576=)
c.*7680T= (n.*7680T=)
c.7620T= (p.Leu2540=)
c.7674T= (p.Leu2558=)
c.231-13381T=
c.7704T= (p.Leu2568=)
c.7599T= (p.Leu2533=)
c.7590T= (p.Leu2530=)
c.7551T= (p.Leu2517=)
c.7497T= (p.Leu2499=)
c.7401T= (p.Leu2467=)
c.7371T= (p.Leu2457=)
c.7296T= (p.Leu2432=)
c.7194T= (p.Leu2398=)
c.6825T= (p.Leu2275=)
5g.112843269C>ACA16038001APCc.7729C>A (p.Pro2577Thr)
c.*7681C>A (n.*7681C>A)
c.7621C>A (p.Pro2541Thr)
c.7675C>A (p.Pro2559Thr)
c.231-13380C>A
c.7705C>A (p.Pro2569Thr)
c.7600C>A (p.Pro2534Thr)
c.7591C>A (p.Pro2531Thr)
c.7552C>A (p.Pro2518Thr)
c.7498C>A (p.Pro2500Thr)
c.7402C>A (p.Pro2468Thr)
c.7372C>A (p.Pro2458Thr)
c.7297C>A (p.Pro2433Thr)
c.7195C>A (p.Pro2399Thr)
c.6826C>A (p.Pro2276Thr)
5g.112843269C>GCA16038002APCc.7729C>G (p.Pro2577Ala)
c.*7681C>G (n.*7681C>G)
c.7621C>G (p.Pro2541Ala)
c.7675C>G (p.Pro2559Ala)
c.231-13380C>G
c.7705C>G (p.Pro2569Ala)
c.7600C>G (p.Pro2534Ala)
c.7591C>G (p.Pro2531Ala)
c.7552C>G (p.Pro2518Ala)
c.7498C>G (p.Pro2500Ala)
c.7402C>G (p.Pro2468Ala)
c.7372C>G (p.Pro2458Ala)
c.7297C>G (p.Pro2433Ala)
c.7195C>G (p.Pro2399Ala)
c.6826C>G (p.Pro2276Ala)
5g.112843269C>TCA16038003APCc.7729C>T (p.Pro2577Ser)
c.*7681C>T (n.*7681C>T)
c.7621C>T (p.Pro2541Ser)
c.7675C>T (p.Pro2559Ser)
c.231-13380C>T
c.7705C>T (p.Pro2569Ser)
c.7600C>T (p.Pro2534Ser)
c.7591C>T (p.Pro2531Ser)
c.7552C>T (p.Pro2518Ser)
c.7498C>T (p.Pro2500Ser)
c.7402C>T (p.Pro2468Ser)
c.7372C>T (p.Pro2458Ser)
c.7297C>T (p.Pro2433Ser)
c.7195C>T (p.Pro2399Ser)
c.6826C>T (p.Pro2276Ser)
gnomAD v4
5g.112843270C>ACA16038004APCc.7730C>A (p.Pro2577His)
c.*7682C>A (n.*7682C>A)
c.7622C>A (p.Pro2541His)
c.7676C>A (p.Pro2559His)
c.231-13379C>A
c.7706C>A (p.Pro2569His)
c.7601C>A (p.Pro2534His)
c.7592C>A (p.Pro2531His)
c.7553C>A (p.Pro2518His)
c.7499C>A (p.Pro2500His)
c.7403C>A (p.Pro2468His)
c.7373C>A (p.Pro2458His)
c.7298C>A (p.Pro2433His)
c.7196C>A (p.Pro2399His)
c.6827C>A (p.Pro2276His)
dbSNP
5g.112843270C>GCA16038005APCc.7730C>G (p.Pro2577Arg)
c.*7682C>G (n.*7682C>G)
c.7622C>G (p.Pro2541Arg)
c.7676C>G (p.Pro2559Arg)
c.231-13379C>G
c.7706C>G (p.Pro2569Arg)
c.7601C>G (p.Pro2534Arg)
c.7592C>G (p.Pro2531Arg)
c.7553C>G (p.Pro2518Arg)
c.7499C>G (p.Pro2500Arg)
c.7403C>G (p.Pro2468Arg)
c.7373C>G (p.Pro2458Arg)
c.7298C>G (p.Pro2433Arg)
c.7196C>G (p.Pro2399Arg)
c.6827C>G (p.Pro2276Arg)
dbSNP
5g.112843270C>TCA16038006APCc.7730C>T (p.Pro2577Leu)
c.*7682C>T (n.*7682C>T)
c.7622C>T (p.Pro2541Leu)
c.7676C>T (p.Pro2559Leu)
c.231-13379C>T
c.7706C>T (p.Pro2569Leu)
c.7601C>T (p.Pro2534Leu)
c.7592C>T (p.Pro2531Leu)
c.7553C>T (p.Pro2518Leu)
c.7499C>T (p.Pro2500Leu)
c.7403C>T (p.Pro2468Leu)
c.7373C>T (p.Pro2458Leu)
c.7298C>T (p.Pro2433Leu)
c.7196C>T (p.Pro2399Leu)
c.6827C>T (p.Pro2276Leu)
ClinVar dbSNP
5g.112843271T>ACA446211126APCc.7731T>A (p.Pro2577=)
c.*7683T>A (n.*7683T>A)
c.7623T>A (p.Pro2541=)
c.7677T>A (p.Pro2559=)
c.231-13378T>A
c.7707T>A (p.Pro2569=)
c.7602T>A (p.Pro2534=)
c.7593T>A (p.Pro2531=)
c.7554T>A (p.Pro2518=)
c.7500T>A (p.Pro2500=)
c.7404T>A (p.Pro2468=)
c.7374T>A (p.Pro2458=)
c.7299T>A (p.Pro2433=)
c.7197T>A (p.Pro2399=)
c.6828T>A (p.Pro2276=)
dbSNP
5g.112843271T>CCA446211127APCc.7731T>C (p.Pro2577=)
c.*7683T>C (n.*7683T>C)
c.7623T>C (p.Pro2541=)
c.7677T>C (p.Pro2559=)
c.231-13378T>C
c.7707T>C (p.Pro2569=)
c.7602T>C (p.Pro2534=)
c.7593T>C (p.Pro2531=)
c.7554T>C (p.Pro2518=)
c.7500T>C (p.Pro2500=)
c.7404T>C (p.Pro2468=)
c.7374T>C (p.Pro2458=)
c.7299T>C (p.Pro2433=)
c.7197T>C (p.Pro2399=)
c.6828T>C (p.Pro2276=)
5g.112843271T>GCA446211128APCc.7731T>G (p.Pro2577=)
c.*7683T>G (n.*7683T>G)
c.7623T>G (p.Pro2541=)
c.7677T>G (p.Pro2559=)
c.231-13378T>G
c.7707T>G (p.Pro2569=)
c.7602T>G (p.Pro2534=)
c.7593T>G (p.Pro2531=)
c.7554T>G (p.Pro2518=)
c.7500T>G (p.Pro2500=)
c.7404T>G (p.Pro2468=)
c.7374T>G (p.Pro2458=)
c.7299T>G (p.Pro2433=)
c.7197T>G (p.Pro2399=)
c.6828T>G (p.Pro2276=)
ClinVar dbSNP gnomAD v4
5g.112843272C>ACA446211129APCc.7732C>A (p.Arg2578=)
c.*7684C>A (n.*7684C>A)
c.7624C>A (p.Arg2542=)
c.7678C>A (p.Arg2560=)
c.231-13377C>A
c.7708C>A (p.Arg2570=)
c.7603C>A (p.Arg2535=)
c.7594C>A (p.Arg2532=)
c.7555C>A (p.Arg2519=)
c.7501C>A (p.Arg2501=)
c.7405C>A (p.Arg2469=)
c.7375C>A (p.Arg2459=)
c.7300C>A (p.Arg2434=)
c.7198C>A (p.Arg2400=)
c.6829C>A (p.Arg2277=)
dbSNP
5g.112843272C=CA1573472840APCc.7732C= (p.Arg2578=)
c.*7684C= (n.*7684C=)
c.7624C= (p.Arg2542=)
c.7678C= (p.Arg2560=)
c.231-13377C=
c.7708C= (p.Arg2570=)
c.7603C= (p.Arg2535=)
c.7594C= (p.Arg2532=)
c.7555C= (p.Arg2519=)
c.7501C= (p.Arg2501=)
c.7405C= (p.Arg2469=)
c.7375C= (p.Arg2459=)
c.7300C= (p.Arg2434=)
c.7198C= (p.Arg2400=)
c.6829C= (p.Arg2277=)
5g.112843272C>GCA16038007APCc.7732C>G (p.Arg2578Gly)
c.*7684C>G (n.*7684C>G)
c.7624C>G (p.Arg2542Gly)
c.7678C>G (p.Arg2560Gly)
c.231-13377C>G
c.7708C>G (p.Arg2570Gly)
c.7603C>G (p.Arg2535Gly)
c.7594C>G (p.Arg2532Gly)
c.7555C>G (p.Arg2519Gly)
c.7501C>G (p.Arg2501Gly)
c.7405C>G (p.Arg2469Gly)
c.7375C>G (p.Arg2459Gly)
c.7300C>G (p.Arg2434Gly)
c.7198C>G (p.Arg2400Gly)
c.6829C>G (p.Arg2277Gly)
dbSNP
5g.112843272C>TCA16038008APCc.7732C>T (p.Arg2578Ter)
c.*7684C>T (n.*7684C>T)
c.7624C>T (p.Arg2542Ter)
c.7678C>T (p.Arg2560Ter)
c.231-13377C>T
c.7708C>T (p.Arg2570Ter)
c.7603C>T (p.Arg2535Ter)
c.7594C>T (p.Arg2532Ter)
c.7555C>T (p.Arg2519Ter)
c.7501C>T (p.Arg2501Ter)
c.7405C>T (p.Arg2469Ter)
c.7375C>T (p.Arg2459Ter)
c.7300C>T (p.Arg2434Ter)
c.7198C>T (p.Arg2400Ter)
c.6829C>T (p.Arg2277Ter)
ClinVar dbSNP gnomAD v4
5g.112843273G>ACA048947APCc.7733G>A (p.Arg2578Gln)
c.*7685G>A (n.*7685G>A)
c.7625G>A (p.Arg2542Gln)
c.7679G>A (p.Arg2560Gln)
c.231-13376G>A
c.7709G>A (p.Arg2570Gln)
c.7604G>A (p.Arg2535Gln)
c.7595G>A (p.Arg2532Gln)
c.7556G>A (p.Arg2519Gln)
c.7502G>A (p.Arg2501Gln)
c.7406G>A (p.Arg2469Gln)
c.7376G>A (p.Arg2459Gln)
c.7301G>A (p.Arg2434Gln)
c.7199G>A (p.Arg2400Gln)
c.6830G>A (p.Arg2277Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843273G>CCA16038009APCc.7733G>C (p.Arg2578Pro)
c.*7685G>C (n.*7685G>C)
c.7625G>C (p.Arg2542Pro)
c.7679G>C (p.Arg2560Pro)
c.231-13376G>C
c.7709G>C (p.Arg2570Pro)
c.7604G>C (p.Arg2535Pro)
c.7595G>C (p.Arg2532Pro)
c.7556G>C (p.Arg2519Pro)
c.7502G>C (p.Arg2501Pro)
c.7406G>C (p.Arg2469Pro)
c.7376G>C (p.Arg2459Pro)
c.7301G>C (p.Arg2434Pro)
c.7199G>C (p.Arg2400Pro)
c.6830G>C (p.Arg2277Pro)
5g.112843273G=CA1573472851APCc.7733G= (p.Arg2578=)
c.*7685G= (n.*7685G=)
c.7625G= (p.Arg2542=)
c.7679G= (p.Arg2560=)
c.231-13376G=
c.7709G= (p.Arg2570=)
c.7604G= (p.Arg2535=)
c.7595G= (p.Arg2532=)
c.7556G= (p.Arg2519=)
c.7502G= (p.Arg2501=)
c.7406G= (p.Arg2469=)
c.7376G= (p.Arg2459=)
c.7301G= (p.Arg2434=)
c.7199G= (p.Arg2400=)
c.6830G= (p.Arg2277=)
5g.112843273G>TCA16038010APCc.7733G>T (p.Arg2578Leu)
c.*7685G>T (n.*7685G>T)
c.7625G>T (p.Arg2542Leu)
c.7679G>T (p.Arg2560Leu)
c.231-13376G>T
c.7709G>T (p.Arg2570Leu)
c.7604G>T (p.Arg2535Leu)
c.7595G>T (p.Arg2532Leu)
c.7556G>T (p.Arg2519Leu)
c.7502G>T (p.Arg2501Leu)
c.7406G>T (p.Arg2469Leu)
c.7376G>T (p.Arg2459Leu)
c.7301G>T (p.Arg2434Leu)
c.7199G>T (p.Arg2400Leu)
c.6830G>T (p.Arg2277Leu)
gnomAD v4
5g.112843274A>CCA446211130APCc.7734A>C (p.Arg2578=)
c.*7686A>C (n.*7686A>C)
c.7626A>C (p.Arg2542=)
c.7680A>C (p.Arg2560=)
c.231-13375A>C
c.7710A>C (p.Arg2570=)
c.7605A>C (p.Arg2535=)
c.7596A>C (p.Arg2532=)
c.7557A>C (p.Arg2519=)
c.7503A>C (p.Arg2501=)
c.7407A>C (p.Arg2469=)
c.7377A>C (p.Arg2459=)
c.7302A>C (p.Arg2434=)
c.7200A>C (p.Arg2400=)
c.6831A>C (p.Arg2277=)
5g.112843274A>GCA446211131APCc.7734A>G (p.Arg2578=)
c.*7686A>G (n.*7686A>G)
c.7626A>G (p.Arg2542=)
c.7680A>G (p.Arg2560=)
c.231-13375A>G
c.7710A>G (p.Arg2570=)
c.7605A>G (p.Arg2535=)
c.7596A>G (p.Arg2532=)
c.7557A>G (p.Arg2519=)
c.7503A>G (p.Arg2501=)
c.7407A>G (p.Arg2469=)
c.7377A>G (p.Arg2459=)
c.7302A>G (p.Arg2434=)
c.7200A>G (p.Arg2400=)
c.6831A>G (p.Arg2277=)
dbSNP
5g.112843274A>TCA446211132APCc.7734A>T (p.Arg2578=)
c.*7686A>T (n.*7686A>T)
c.7626A>T (p.Arg2542=)
c.7680A>T (p.Arg2560=)
c.231-13375A>T
c.7710A>T (p.Arg2570=)
c.7605A>T (p.Arg2535=)
c.7596A>T (p.Arg2532=)
c.7557A>T (p.Arg2519=)
c.7503A>T (p.Arg2501=)
c.7407A>T (p.Arg2469=)
c.7377A>T (p.Arg2459=)
c.7302A>T (p.Arg2434=)
c.7200A>T (p.Arg2400=)
c.6831A>T (p.Arg2277=)
ClinVar dbSNP
5g.112843275G>ACA16038011APCc.7735G>A (p.Val2579Ile)
c.*7687G>A (n.*7687G>A)
c.7627G>A (p.Val2543Ile)
c.7681G>A (p.Val2561Ile)
c.231-13374G>A
c.7711G>A (p.Val2571Ile)
c.7606G>A (p.Val2536Ile)
c.7597G>A (p.Val2533Ile)
c.7558G>A (p.Val2520Ile)
c.7504G>A (p.Val2502Ile)
c.7408G>A (p.Val2470Ile)
c.7378G>A (p.Val2460Ile)
c.7303G>A (p.Val2435Ile)
c.7201G>A (p.Val2401Ile)
c.6832G>A (p.Val2278Ile)
ClinVar
5g.112843275G>CCA16038012APCc.7735G>C (p.Val2579Leu)
c.*7687G>C (n.*7687G>C)
c.7627G>C (p.Val2543Leu)
c.7681G>C (p.Val2561Leu)
c.231-13374G>C
c.7711G>C (p.Val2571Leu)
c.7606G>C (p.Val2536Leu)
c.7597G>C (p.Val2533Leu)
c.7558G>C (p.Val2520Leu)
c.7504G>C (p.Val2502Leu)
c.7408G>C (p.Val2470Leu)
c.7378G>C (p.Val2460Leu)
c.7303G>C (p.Val2435Leu)
c.7201G>C (p.Val2401Leu)
c.6832G>C (p.Val2278Leu)
5g.112843275G=CA1573472866APCc.7735G= (p.Val2579=)
c.*7687G= (n.*7687G=)
c.7627G= (p.Val2543=)
c.7681G= (p.Val2561=)
c.231-13374G=
c.7711G= (p.Val2571=)
c.7606G= (p.Val2536=)
c.7597G= (p.Val2533=)
c.7558G= (p.Val2520=)
c.7504G= (p.Val2502=)
c.7408G= (p.Val2470=)
c.7378G= (p.Val2460=)
c.7303G= (p.Val2435=)
c.7201G= (p.Val2401=)
c.6832G= (p.Val2278=)
5g.112843275G>TCA16038013APCc.7735G>T (p.Val2579Leu)
c.*7687G>T (n.*7687G>T)
c.7627G>T (p.Val2543Leu)
c.7681G>T (p.Val2561Leu)
c.231-13374G>T
c.7711G>T (p.Val2571Leu)
c.7606G>T (p.Val2536Leu)
c.7597G>T (p.Val2533Leu)
c.7558G>T (p.Val2520Leu)
c.7504G>T (p.Val2502Leu)
c.7408G>T (p.Val2470Leu)
c.7378G>T (p.Val2460Leu)
c.7303G>T (p.Val2435Leu)
c.7201G>T (p.Val2401Leu)
c.6832G>T (p.Val2278Leu)
ClinVar dbSNP
5g.112843276T>ACA16038014APCc.7736T>A (p.Val2579Glu)
c.*7688T>A (n.*7688T>A)
c.7628T>A (p.Val2543Glu)
c.7682T>A (p.Val2561Glu)
c.231-13373T>A
c.7712T>A (p.Val2571Glu)
c.7607T>A (p.Val2536Glu)
c.7598T>A (p.Val2533Glu)
c.7559T>A (p.Val2520Glu)
c.7505T>A (p.Val2502Glu)
c.7409T>A (p.Val2470Glu)
c.7379T>A (p.Val2460Glu)
c.7304T>A (p.Val2435Glu)
c.7202T>A (p.Val2401Glu)
c.6833T>A (p.Val2278Glu)
5g.112843276T>CCA16038015APCc.7736T>C (p.Val2579Ala)
c.*7688T>C (n.*7688T>C)
c.7628T>C (p.Val2543Ala)
c.7682T>C (p.Val2561Ala)
c.231-13373T>C
c.7712T>C (p.Val2571Ala)
c.7607T>C (p.Val2536Ala)
c.7598T>C (p.Val2533Ala)
c.7559T>C (p.Val2520Ala)
c.7505T>C (p.Val2502Ala)
c.7409T>C (p.Val2470Ala)
c.7379T>C (p.Val2460Ala)
c.7304T>C (p.Val2435Ala)
c.7202T>C (p.Val2401Ala)
c.6833T>C (p.Val2278Ala)
5g.112843276T>GCA16038016APCc.7736T>G (p.Val2579Gly)
c.*7688T>G (n.*7688T>G)
c.7628T>G (p.Val2543Gly)
c.7682T>G (p.Val2561Gly)
c.231-13373T>G
c.7712T>G (p.Val2571Gly)
c.7607T>G (p.Val2536Gly)
c.7598T>G (p.Val2533Gly)
c.7559T>G (p.Val2520Gly)
c.7505T>G (p.Val2502Gly)
c.7409T>G (p.Val2470Gly)
c.7379T>G (p.Val2460Gly)
c.7304T>G (p.Val2435Gly)
c.7202T>G (p.Val2401Gly)
c.6833T>G (p.Val2278Gly)
ClinVar dbSNP
5g.112843276T=CA1573472877APCc.7736T= (p.Val2579=)
c.*7688T= (n.*7688T=)
c.7628T= (p.Val2543=)
c.7682T= (p.Val2561=)
c.231-13373T=
c.7712T= (p.Val2571=)
c.7607T= (p.Val2536=)
c.7598T= (p.Val2533=)
c.7559T= (p.Val2520=)
c.7505T= (p.Val2502=)
c.7409T= (p.Val2470=)
c.7379T= (p.Val2460=)
c.7304T= (p.Val2435=)
c.7202T= (p.Val2401=)
c.6833T= (p.Val2278=)
5g.112843276dupCA2582341632APCc.7736dup (p.Ser2580LysfsTer21)
c.*7688dup (n.*7688dup)
c.7628dup (p.Ser2544LysfsTer21)
c.7682dup (p.Ser2562LysfsTer21)
c.231-13373dup
c.7712dup (p.Ser2572LysfsTer21)
c.7607dup (p.Ser2537LysfsTer21)
c.7598dup (p.Ser2534LysfsTer21)
c.7559dup (p.Ser2521LysfsTer21)
c.7505dup (p.Ser2503LysfsTer21)
c.7409dup (p.Ser2471LysfsTer21)
c.7379dup (p.Ser2461LysfsTer21)
c.7304dup (p.Ser2436LysfsTer21)
c.7202dup (p.Ser2402LysfsTer21)
c.6833dup (p.Ser2279LysfsTer21)
ClinVar
5g.112843277A=CA1573472901APCc.7737A= (p.Val2579=)
c.*7689A= (n.*7689A=)
c.7629A= (p.Val2543=)
c.7683A= (p.Val2561=)
c.231-13372A=
c.7713A= (p.Val2571=)
c.7608A= (p.Val2536=)
c.7599A= (p.Val2533=)
c.7560A= (p.Val2520=)
c.7506A= (p.Val2502=)
c.7410A= (p.Val2470=)
c.7380A= (p.Val2460=)
c.7305A= (p.Val2435=)
c.7203A= (p.Val2401=)
c.6834A= (p.Val2278=)
5g.112843277A>CCA446211133APCc.7737A>C (p.Val2579=)
c.*7689A>C (n.*7689A>C)
c.7629A>C (p.Val2543=)
c.7683A>C (p.Val2561=)
c.231-13372A>C
c.7713A>C (p.Val2571=)
c.7608A>C (p.Val2536=)
c.7599A>C (p.Val2533=)
c.7560A>C (p.Val2520=)
c.7506A>C (p.Val2502=)
c.7410A>C (p.Val2470=)
c.7380A>C (p.Val2460=)
c.7305A>C (p.Val2435=)
c.7203A>C (p.Val2401=)
c.6834A>C (p.Val2278=)
5g.112843277A>GCA446211134APCc.7737A>G (p.Val2579=)
c.*7689A>G (n.*7689A>G)
c.7629A>G (p.Val2543=)
c.7683A>G (p.Val2561=)
c.231-13372A>G
c.7713A>G (p.Val2571=)
c.7608A>G (p.Val2536=)
c.7599A>G (p.Val2533=)
c.7560A>G (p.Val2520=)
c.7506A>G (p.Val2502=)
c.7410A>G (p.Val2470=)
c.7380A>G (p.Val2460=)
c.7305A>G (p.Val2435=)
c.7203A>G (p.Val2401=)
c.6834A>G (p.Val2278=)
ClinVar dbSNP
5g.112843277A>TCA446211135APCc.7737A>T (p.Val2579=)
c.*7689A>T (n.*7689A>T)
c.7629A>T (p.Val2543=)
c.7683A>T (p.Val2561=)
c.231-13372A>T
c.7713A>T (p.Val2571=)
c.7608A>T (p.Val2536=)
c.7599A>T (p.Val2533=)
c.7560A>T (p.Val2520=)
c.7506A>T (p.Val2502=)
c.7410A>T (p.Val2470=)
c.7380A>T (p.Val2460=)
c.7305A>T (p.Val2435=)
c.7203A>T (p.Val2401=)
c.6834A>T (p.Val2278=)
dbSNP
5g.112843278A=CA1573472912APCc.7738A= (p.Ser2580=)
c.*7690A= (n.*7690A=)
c.7630A= (p.Ser2544=)
c.7684A= (p.Ser2562=)
c.231-13371A=
c.7714A= (p.Ser2572=)
c.7609A= (p.Ser2537=)
c.7600A= (p.Ser2534=)
c.7561A= (p.Ser2521=)
c.7507A= (p.Ser2503=)
c.7411A= (p.Ser2471=)
c.7381A= (p.Ser2461=)
c.7306A= (p.Ser2436=)
c.7204A= (p.Ser2402=)
c.6835A= (p.Ser2279=)
5g.112843278A>CCA16038017APCc.7738A>C (p.Ser2580Arg)
c.*7690A>C (n.*7690A>C)
c.7630A>C (p.Ser2544Arg)
c.7684A>C (p.Ser2562Arg)
c.231-13371A>C
c.7714A>C (p.Ser2572Arg)
c.7609A>C (p.Ser2537Arg)
c.7600A>C (p.Ser2534Arg)
c.7561A>C (p.Ser2521Arg)
c.7507A>C (p.Ser2503Arg)
c.7411A>C (p.Ser2471Arg)
c.7381A>C (p.Ser2461Arg)
c.7306A>C (p.Ser2436Arg)
c.7204A>C (p.Ser2402Arg)
c.6835A>C (p.Ser2279Arg)
5g.112843278A>GCA16038018APCc.7738A>G (p.Ser2580Gly)
c.*7690A>G (n.*7690A>G)
c.7630A>G (p.Ser2544Gly)
c.7684A>G (p.Ser2562Gly)
c.231-13371A>G
c.7714A>G (p.Ser2572Gly)
c.7609A>G (p.Ser2537Gly)
c.7600A>G (p.Ser2534Gly)
c.7561A>G (p.Ser2521Gly)
c.7507A>G (p.Ser2503Gly)
c.7411A>G (p.Ser2471Gly)
c.7381A>G (p.Ser2461Gly)
c.7306A>G (p.Ser2436Gly)
c.7204A>G (p.Ser2402Gly)
c.6835A>G (p.Ser2279Gly)
ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
5g.112843278A>TCA16038019APCc.7738A>T (p.Ser2580Cys)
c.*7690A>T (n.*7690A>T)
c.7630A>T (p.Ser2544Cys)
c.7684A>T (p.Ser2562Cys)
c.231-13371A>T
c.7714A>T (p.Ser2572Cys)
c.7609A>T (p.Ser2537Cys)
c.7600A>T (p.Ser2534Cys)
c.7561A>T (p.Ser2521Cys)
c.7507A>T (p.Ser2503Cys)
c.7411A>T (p.Ser2471Cys)
c.7381A>T (p.Ser2461Cys)
c.7306A>T (p.Ser2436Cys)
c.7204A>T (p.Ser2402Cys)
c.6835A>T (p.Ser2279Cys)
dbSNP COSMIC
5g.112843279G>ACA16038020APCc.7739G>A (p.Ser2580Asn)
c.*7691G>A (n.*7691G>A)
c.7631G>A (p.Ser2544Asn)
c.7685G>A (p.Ser2562Asn)
c.231-13370G>A
c.7715G>A (p.Ser2572Asn)
c.7610G>A (p.Ser2537Asn)
c.7601G>A (p.Ser2534Asn)
c.7562G>A (p.Ser2521Asn)
c.7508G>A (p.Ser2503Asn)
c.7412G>A (p.Ser2471Asn)
c.7382G>A (p.Ser2461Asn)
c.7307G>A (p.Ser2436Asn)
c.7205G>A (p.Ser2402Asn)
c.6836G>A (p.Ser2279Asn)
dbSNP
5g.112843279G>CCA16038021APCc.7739G>C (p.Ser2580Thr)
c.*7691G>C (n.*7691G>C)
c.7631G>C (p.Ser2544Thr)
c.7685G>C (p.Ser2562Thr)
c.231-13370G>C
c.7715G>C (p.Ser2572Thr)
c.7610G>C (p.Ser2537Thr)
c.7601G>C (p.Ser2534Thr)
c.7562G>C (p.Ser2521Thr)
c.7508G>C (p.Ser2503Thr)
c.7412G>C (p.Ser2471Thr)
c.7382G>C (p.Ser2461Thr)
c.7307G>C (p.Ser2436Thr)
c.7205G>C (p.Ser2402Thr)
c.6836G>C (p.Ser2279Thr)
dbSNP
5g.112843279G>TCA16038022APCc.7739G>T (p.Ser2580Ile)
c.*7691G>T (n.*7691G>T)
c.7631G>T (p.Ser2544Ile)
c.7685G>T (p.Ser2562Ile)
c.231-13370G>T
c.7715G>T (p.Ser2572Ile)
c.7610G>T (p.Ser2537Ile)
c.7601G>T (p.Ser2534Ile)
c.7562G>T (p.Ser2521Ile)
c.7508G>T (p.Ser2503Ile)
c.7412G>T (p.Ser2471Ile)
c.7382G>T (p.Ser2461Ile)
c.7307G>T (p.Ser2436Ile)
c.7205G>T (p.Ser2402Ile)
c.6836G>T (p.Ser2279Ile)
dbSNP
5g.112843280C>ACA16038023APCc.7740C>A (p.Ser2580Arg)
c.*7692C>A (n.*7692C>A)
c.7632C>A (p.Ser2544Arg)
c.7686C>A (p.Ser2562Arg)
c.231-13369C>A
c.7716C>A (p.Ser2572Arg)
c.7611C>A (p.Ser2537Arg)
c.7602C>A (p.Ser2534Arg)
c.7563C>A (p.Ser2521Arg)
c.7509C>A (p.Ser2503Arg)
c.7413C>A (p.Ser2471Arg)
c.7383C>A (p.Ser2461Arg)
c.7308C>A (p.Ser2436Arg)
c.7206C>A (p.Ser2402Arg)
c.6837C>A (p.Ser2279Arg)
dbSNP
5g.112843280C=CA1573472917APCc.7740C= (p.Ser2580=)
c.*7692C= (n.*7692C=)
c.7632C= (p.Ser2544=)
c.7686C= (p.Ser2562=)
c.231-13369C=
c.7716C= (p.Ser2572=)
c.7611C= (p.Ser2537=)
c.7602C= (p.Ser2534=)
c.7563C= (p.Ser2521=)
c.7509C= (p.Ser2503=)
c.7413C= (p.Ser2471=)
c.7383C= (p.Ser2461=)
c.7308C= (p.Ser2436=)
c.7206C= (p.Ser2402=)
c.6837C= (p.Ser2279=)
5g.112843280C>GCA16038024APCc.7740C>G (p.Ser2580Arg)
c.*7692C>G (n.*7692C>G)
c.7632C>G (p.Ser2544Arg)
c.7686C>G (p.Ser2562Arg)
c.231-13369C>G
c.7716C>G (p.Ser2572Arg)
c.7611C>G (p.Ser2537Arg)
c.7602C>G (p.Ser2534Arg)
c.7563C>G (p.Ser2521Arg)
c.7509C>G (p.Ser2503Arg)
c.7413C>G (p.Ser2471Arg)
c.7383C>G (p.Ser2461Arg)
c.7308C>G (p.Ser2436Arg)
c.7206C>G (p.Ser2402Arg)
c.6837C>G (p.Ser2279Arg)
dbSNP
5g.112843280C>TCA446211136APCc.7740C>T (p.Ser2580=)
c.*7692C>T (n.*7692C>T)
c.7632C>T (p.Ser2544=)
c.7686C>T (p.Ser2562=)
c.231-13369C>T
c.7716C>T (p.Ser2572=)
c.7611C>T (p.Ser2537=)
c.7602C>T (p.Ser2534=)
c.7563C>T (p.Ser2521=)
c.7509C>T (p.Ser2503=)
c.7413C>T (p.Ser2471=)
c.7383C>T (p.Ser2461=)
c.7308C>T (p.Ser2436=)
c.7206C>T (p.Ser2402=)
c.6837C>T (p.Ser2279=)
ClinVar dbSNP
5g.112843280_112843281insTCA2582341633APCc.7740_7741insT (p.Thr2581TyrfsTer20)
c.*7692_*7693insT (n.*7692_*7693insT)
c.7632_7633insT (p.Thr2545TyrfsTer20)
c.7686_7687insT (p.Thr2563TyrfsTer20)
c.231-13369_231-13368insT
c.7716_7717insT (p.Thr2573TyrfsTer20)
c.7611_7612insT (p.Thr2538TyrfsTer20)
c.7602_7603insT (p.Thr2535TyrfsTer20)
c.7563_7564insT (p.Thr2522TyrfsTer20)
c.7509_7510insT (p.Thr2504TyrfsTer20)
c.7413_7414insT (p.Thr2472TyrfsTer20)
c.7383_7384insT (p.Thr2462TyrfsTer20)
c.7308_7309insT (p.Thr2437TyrfsTer20)
c.7206_7207insT (p.Thr2403TyrfsTer20)
c.6837_6838insT (p.Thr2280TyrfsTer20)
ClinVar
5g.112843281A>CCA16038025APCc.7741A>C (p.Thr2581Pro)
c.*7693A>C (n.*7693A>C)
c.7633A>C (p.Thr2545Pro)
c.7687A>C (p.Thr2563Pro)
c.231-13368A>C
c.7717A>C (p.Thr2573Pro)
c.7612A>C (p.Thr2538Pro)
c.7603A>C (p.Thr2535Pro)
c.7564A>C (p.Thr2522Pro)
c.7510A>C (p.Thr2504Pro)
c.7414A>C (p.Thr2472Pro)
c.7384A>C (p.Thr2462Pro)
c.7309A>C (p.Thr2437Pro)
c.7207A>C (p.Thr2403Pro)
c.6838A>C (p.Thr2280Pro)
5g.112843281A>GCA16038026APCc.7741A>G (p.Thr2581Ala)
c.*7693A>G (n.*7693A>G)
c.7633A>G (p.Thr2545Ala)
c.7687A>G (p.Thr2563Ala)
c.231-13368A>G
c.7717A>G (p.Thr2573Ala)
c.7612A>G (p.Thr2538Ala)
c.7603A>G (p.Thr2535Ala)
c.7564A>G (p.Thr2522Ala)
c.7510A>G (p.Thr2504Ala)
c.7414A>G (p.Thr2472Ala)
c.7384A>G (p.Thr2462Ala)
c.7309A>G (p.Thr2437Ala)
c.7207A>G (p.Thr2403Ala)
c.6838A>G (p.Thr2280Ala)
5g.112843281A>TCA16038027APCc.7741A>T (p.Thr2581Ser)
c.*7693A>T (n.*7693A>T)
c.7633A>T (p.Thr2545Ser)
c.7687A>T (p.Thr2563Ser)
c.231-13368A>T
c.7717A>T (p.Thr2573Ser)
c.7612A>T (p.Thr2538Ser)
c.7603A>T (p.Thr2535Ser)
c.7564A>T (p.Thr2522Ser)
c.7510A>T (p.Thr2504Ser)
c.7414A>T (p.Thr2472Ser)
c.7384A>T (p.Thr2462Ser)
c.7309A>T (p.Thr2437Ser)
c.7207A>T (p.Thr2403Ser)
c.6838A>T (p.Thr2280Ser)
5g.112843282C>ACA16038028APCc.7742C>A (p.Thr2581Asn)
c.*7694C>A (n.*7694C>A)
c.7634C>A (p.Thr2545Asn)
c.7688C>A (p.Thr2563Asn)
c.231-13367C>A
c.7718C>A (p.Thr2573Asn)
c.7613C>A (p.Thr2538Asn)
c.7604C>A (p.Thr2535Asn)
c.7565C>A (p.Thr2522Asn)
c.7511C>A (p.Thr2504Asn)
c.7415C>A (p.Thr2472Asn)
c.7385C>A (p.Thr2462Asn)
c.7310C>A (p.Thr2437Asn)
c.7208C>A (p.Thr2403Asn)
c.6839C>A (p.Thr2280Asn)
5g.112843282C>GCA16038029APCc.7742C>G (p.Thr2581Ser)
c.*7694C>G (n.*7694C>G)
c.7634C>G (p.Thr2545Ser)
c.7688C>G (p.Thr2563Ser)
c.231-13367C>G
c.7718C>G (p.Thr2573Ser)
c.7613C>G (p.Thr2538Ser)
c.7604C>G (p.Thr2535Ser)
c.7565C>G (p.Thr2522Ser)
c.7511C>G (p.Thr2504Ser)
c.7415C>G (p.Thr2472Ser)
c.7385C>G (p.Thr2462Ser)
c.7310C>G (p.Thr2437Ser)
c.7208C>G (p.Thr2403Ser)
c.6839C>G (p.Thr2280Ser)
5g.112843282C>TCA16038030APCc.7742C>T (p.Thr2581Ile)
c.*7694C>T (n.*7694C>T)
c.7634C>T (p.Thr2545Ile)
c.7688C>T (p.Thr2563Ile)
c.231-13367C>T
c.7718C>T (p.Thr2573Ile)
c.7613C>T (p.Thr2538Ile)
c.7604C>T (p.Thr2535Ile)
c.7565C>T (p.Thr2522Ile)
c.7511C>T (p.Thr2504Ile)
c.7415C>T (p.Thr2472Ile)
c.7385C>T (p.Thr2462Ile)
c.7310C>T (p.Thr2437Ile)
c.7208C>T (p.Thr2403Ile)
c.6839C>T (p.Thr2280Ile)
ClinVar
5g.112843283T>ACA446211139APCc.7743T>A (p.Thr2581=)
c.*7695T>A (n.*7695T>A)
c.7635T>A (p.Thr2545=)
c.7689T>A (p.Thr2563=)
c.231-13366T>A
c.7719T>A (p.Thr2573=)
c.7614T>A (p.Thr2538=)
c.7605T>A (p.Thr2535=)
c.7566T>A (p.Thr2522=)
c.7512T>A (p.Thr2504=)
c.7416T>A (p.Thr2472=)
c.7386T>A (p.Thr2462=)
c.7311T>A (p.Thr2437=)
c.7209T>A (p.Thr2403=)
c.6840T>A (p.Thr2280=)
dbSNP
5g.112843283T>CCA446211138APCc.7743T>C (p.Thr2581=)
c.*7695T>C (n.*7695T>C)
c.7635T>C (p.Thr2545=)
c.7689T>C (p.Thr2563=)
c.231-13366T>C
c.7719T>C (p.Thr2573=)
c.7614T>C (p.Thr2538=)
c.7605T>C (p.Thr2535=)
c.7566T>C (p.Thr2522=)
c.7512T>C (p.Thr2504=)
c.7416T>C (p.Thr2472=)
c.7386T>C (p.Thr2462=)
c.7311T>C (p.Thr2437=)
c.7209T>C (p.Thr2403=)
c.6840T>C (p.Thr2280=)
ClinVar dbSNP gnomAD v4
5g.112843283T>GCA446211137APCc.7743T>G (p.Thr2581=)
c.*7695T>G (n.*7695T>G)
c.7635T>G (p.Thr2545=)
c.7689T>G (p.Thr2563=)
c.231-13366T>G
c.7719T>G (p.Thr2573=)
c.7614T>G (p.Thr2538=)
c.7605T>G (p.Thr2535=)
c.7566T>G (p.Thr2522=)
c.7512T>G (p.Thr2504=)
c.7416T>G (p.Thr2472=)
c.7386T>G (p.Thr2462=)
c.7311T>G (p.Thr2437=)
c.7209T>G (p.Thr2403=)
c.6840T>G (p.Thr2280=)
5g.112843284T>ACA16038031APCc.7744T>A (p.Trp2582Arg)
c.*7696T>A (n.*7696T>A)
c.7636T>A (p.Trp2546Arg)
c.7690T>A (p.Trp2564Arg)
c.231-13365T>A
c.7720T>A (p.Trp2574Arg)
c.7615T>A (p.Trp2539Arg)
c.7606T>A (p.Trp2536Arg)
c.7567T>A (p.Trp2523Arg)
c.7513T>A (p.Trp2505Arg)
c.7417T>A (p.Trp2473Arg)
c.7387T>A (p.Trp2463Arg)
c.7312T>A (p.Trp2438Arg)
c.7210T>A (p.Trp2404Arg)
c.6841T>A (p.Trp2281Arg)
5g.112843284T>CCA16038032APCc.7744T>C (p.Trp2582Arg)
c.*7696T>C (n.*7696T>C)
c.7636T>C (p.Trp2546Arg)
c.7690T>C (p.Trp2564Arg)
c.231-13365T>C
c.7720T>C (p.Trp2574Arg)
c.7615T>C (p.Trp2539Arg)
c.7606T>C (p.Trp2536Arg)
c.7567T>C (p.Trp2523Arg)
c.7513T>C (p.Trp2505Arg)
c.7417T>C (p.Trp2473Arg)
c.7387T>C (p.Trp2463Arg)
c.7312T>C (p.Trp2438Arg)
c.7210T>C (p.Trp2404Arg)
c.6841T>C (p.Trp2281Arg)
5g.112843284T>GCA16038033APCc.7744T>G (p.Trp2582Gly)
c.*7696T>G (n.*7696T>G)
c.7636T>G (p.Trp2546Gly)
c.7690T>G (p.Trp2564Gly)
c.231-13365T>G
c.7720T>G (p.Trp2574Gly)
c.7615T>G (p.Trp2539Gly)
c.7606T>G (p.Trp2536Gly)
c.7567T>G (p.Trp2523Gly)
c.7513T>G (p.Trp2505Gly)
c.7417T>G (p.Trp2473Gly)
c.7387T>G (p.Trp2463Gly)
c.7312T>G (p.Trp2438Gly)
c.7210T>G (p.Trp2404Gly)
c.6841T>G (p.Trp2281Gly)
ClinVar
5g.112843284T=CA1573472925APCc.7744T= (p.Trp2582=)
c.*7696T= (n.*7696T=)
c.7636T= (p.Trp2546=)
c.7690T= (p.Trp2564=)
c.231-13365T=
c.7720T= (p.Trp2574=)
c.7615T= (p.Trp2539=)
c.7606T= (p.Trp2536=)
c.7567T= (p.Trp2523=)
c.7513T= (p.Trp2505=)
c.7417T= (p.Trp2473=)
c.7387T= (p.Trp2463=)
c.7312T= (p.Trp2438=)
c.7210T= (p.Trp2404=)
c.6841T= (p.Trp2281=)
5g.112843285G>ACA16038034APCc.7745G>A (p.Trp2582Ter)
c.*7697G>A (n.*7697G>A)
c.7637G>A (p.Trp2546Ter)
c.7691G>A (p.Trp2564Ter)
c.231-13364G>A
c.7721G>A (p.Trp2574Ter)
c.7616G>A (p.Trp2539Ter)
c.7607G>A (p.Trp2536Ter)
c.7568G>A (p.Trp2523Ter)
c.7514G>A (p.Trp2505Ter)
c.7418G>A (p.Trp2473Ter)
c.7388G>A (p.Trp2463Ter)
c.7313G>A (p.Trp2438Ter)
c.7211G>A (p.Trp2404Ter)
c.6842G>A (p.Trp2281Ter)
dbSNP
5g.112843285G>CCA16038035APCc.7745G>C (p.Trp2582Ser)
c.*7697G>C (n.*7697G>C)
c.7637G>C (p.Trp2546Ser)
c.7691G>C (p.Trp2564Ser)
c.231-13364G>C
c.7721G>C (p.Trp2574Ser)
c.7616G>C (p.Trp2539Ser)
c.7607G>C (p.Trp2536Ser)
c.7568G>C (p.Trp2523Ser)
c.7514G>C (p.Trp2505Ser)
c.7418G>C (p.Trp2473Ser)
c.7388G>C (p.Trp2463Ser)
c.7313G>C (p.Trp2438Ser)
c.7211G>C (p.Trp2404Ser)
c.6842G>C (p.Trp2281Ser)
dbSNP
5g.112843285G>TCA16038036APCc.7745G>T (p.Trp2582Leu)
c.*7697G>T (n.*7697G>T)
c.7637G>T (p.Trp2546Leu)
c.7691G>T (p.Trp2564Leu)
c.231-13364G>T
c.7721G>T (p.Trp2574Leu)
c.7616G>T (p.Trp2539Leu)
c.7607G>T (p.Trp2536Leu)
c.7568G>T (p.Trp2523Leu)
c.7514G>T (p.Trp2505Leu)
c.7418G>T (p.Trp2473Leu)
c.7388G>T (p.Trp2463Leu)
c.7313G>T (p.Trp2438Leu)
c.7211G>T (p.Trp2404Leu)
c.6842G>T (p.Trp2281Leu)
dbSNP
5g.112843286dupCA658657463APCc.7746dup (p.Arg2583GlufsTer18)
c.*7698dup (n.*7698dup)
c.7638dup (p.Arg2547GlufsTer18)
c.7692dup (p.Arg2565GlufsTer18)
c.231-13363dup
c.7722dup (p.Arg2575GlufsTer18)
c.7617dup (p.Arg2540GlufsTer18)
c.7608dup (p.Arg2537GlufsTer18)
c.7569dup (p.Arg2524GlufsTer18)
c.7515dup (p.Arg2506GlufsTer18)
c.7419dup (p.Arg2474GlufsTer18)
c.7389dup (p.Arg2464GlufsTer18)
c.7314dup (p.Arg2439GlufsTer18)
c.7212dup (p.Arg2405GlufsTer18)
c.6843dup (p.Arg2282GlufsTer18)
ClinVar dbSNP
5g.112843286G>ACA16038037APCc.7746G>A (p.Trp2582Ter)
c.*7698G>A (n.*7698G>A)
c.7638G>A (p.Trp2546Ter)
c.7692G>A (p.Trp2564Ter)
c.231-13363G>A
c.7722G>A (p.Trp2574Ter)
c.7617G>A (p.Trp2539Ter)
c.7608G>A (p.Trp2536Ter)
c.7569G>A (p.Trp2523Ter)
c.7515G>A (p.Trp2505Ter)
c.7419G>A (p.Trp2473Ter)
c.7389G>A (p.Trp2463Ter)
c.7314G>A (p.Trp2438Ter)
c.7212G>A (p.Trp2404Ter)
c.6843G>A (p.Trp2281Ter)
ClinVar dbSNP
5g.112843286G>CCA16038038APCc.7746G>C (p.Trp2582Cys)
c.*7698G>C (n.*7698G>C)
c.7638G>C (p.Trp2546Cys)
c.7692G>C (p.Trp2564Cys)
c.231-13363G>C
c.7722G>C (p.Trp2574Cys)
c.7617G>C (p.Trp2539Cys)
c.7608G>C (p.Trp2536Cys)
c.7569G>C (p.Trp2523Cys)
c.7515G>C (p.Trp2505Cys)
c.7419G>C (p.Trp2473Cys)
c.7389G>C (p.Trp2463Cys)
c.7314G>C (p.Trp2438Cys)
c.7212G>C (p.Trp2404Cys)
c.6843G>C (p.Trp2281Cys)
ClinVar dbSNP
5g.112843286G=CA1573472936APCc.7746G= (p.Trp2582=)
c.*7698G= (n.*7698G=)
c.7638G= (p.Trp2546=)
c.7692G= (p.Trp2564=)
c.231-13363G=
c.7722G= (p.Trp2574=)
c.7617G= (p.Trp2539=)
c.7608G= (p.Trp2536=)
c.7569G= (p.Trp2523=)
c.7515G= (p.Trp2505=)
c.7419G= (p.Trp2473=)
c.7389G= (p.Trp2463=)
c.7314G= (p.Trp2438=)
c.7212G= (p.Trp2404=)
c.6843G= (p.Trp2281=)
5g.112843286G>TCA16038039APCc.7746G>T (p.Trp2582Cys)
c.*7698G>T (n.*7698G>T)
c.7638G>T (p.Trp2546Cys)
c.7692G>T (p.Trp2564Cys)
c.231-13363G>T
c.7722G>T (p.Trp2574Cys)
c.7617G>T (p.Trp2539Cys)
c.7608G>T (p.Trp2536Cys)
c.7569G>T (p.Trp2523Cys)
c.7515G>T (p.Trp2505Cys)
c.7419G>T (p.Trp2473Cys)
c.7389G>T (p.Trp2463Cys)
c.7314G>T (p.Trp2438Cys)
c.7212G>T (p.Trp2404Cys)
c.6843G>T (p.Trp2281Cys)
dbSNP
5g.112843287A>CCA446211140APCc.7747A>C (p.Arg2583=)
c.*7699A>C (n.*7699A>C)
c.7639A>C (p.Arg2547=)
c.7693A>C (p.Arg2565=)
c.231-13362A>C
c.7723A>C (p.Arg2575=)
c.7618A>C (p.Arg2540=)
c.7609A>C (p.Arg2537=)
c.7570A>C (p.Arg2524=)
c.7516A>C (p.Arg2506=)
c.7420A>C (p.Arg2474=)
c.7390A>C (p.Arg2464=)
c.7315A>C (p.Arg2439=)
c.7213A>C (p.Arg2405=)
c.6844A>C (p.Arg2282=)
5g.112843287A>GCA16038040APCc.7747A>G (p.Arg2583Gly)
c.*7699A>G (n.*7699A>G)
c.7639A>G (p.Arg2547Gly)
c.7693A>G (p.Arg2565Gly)
c.231-13362A>G
c.7723A>G (p.Arg2575Gly)
c.7618A>G (p.Arg2540Gly)
c.7609A>G (p.Arg2537Gly)
c.7570A>G (p.Arg2524Gly)
c.7516A>G (p.Arg2506Gly)
c.7420A>G (p.Arg2474Gly)
c.7390A>G (p.Arg2464Gly)
c.7315A>G (p.Arg2439Gly)
c.7213A>G (p.Arg2405Gly)
c.6844A>G (p.Arg2282Gly)
5g.112843287A>TCA16038041APCc.7747A>T (p.Arg2583Ter)
c.*7699A>T (n.*7699A>T)
c.7639A>T (p.Arg2547Ter)
c.7693A>T (p.Arg2565Ter)
c.231-13362A>T
c.7723A>T (p.Arg2575Ter)
c.7618A>T (p.Arg2540Ter)
c.7609A>T (p.Arg2537Ter)
c.7570A>T (p.Arg2524Ter)
c.7516A>T (p.Arg2506Ter)
c.7420A>T (p.Arg2474Ter)
c.7390A>T (p.Arg2464Ter)
c.7315A>T (p.Arg2439Ter)
c.7213A>T (p.Arg2405Ter)
c.6844A>T (p.Arg2282Ter)
dbSNP
5g.112843291_112843293delCA2767942302APCc.7751_7753del (p.Arg2584del)
c.*7703_*7705del (n.*7703_*7705del)
c.7643_7645del (p.Arg2548del)
c.7697_7699del (p.Arg2566del)
c.231-13358_231-13356del
c.7727_7729del (p.Arg2576del)
c.7622_7624del (p.Arg2541del)
c.7613_7615del (p.Arg2538del)
c.7574_7576del (p.Arg2525del)
c.7520_7522del (p.Arg2507del)
c.7424_7426del (p.Arg2475del)
c.7394_7396del (p.Arg2465del)
c.7319_7321del (p.Arg2440del)
c.7217_7219del (p.Arg2406del)
c.6848_6850del (p.Arg2283del)
5g.112843288G>ACA16038042APCc.7748G>A (p.Arg2583Lys)
c.*7700G>A (n.*7700G>A)
c.7640G>A (p.Arg2547Lys)
c.7694G>A (p.Arg2565Lys)
c.231-13361G>A
c.7724G>A (p.Arg2575Lys)
c.7619G>A (p.Arg2540Lys)
c.7610G>A (p.Arg2537Lys)
c.7571G>A (p.Arg2524Lys)
c.7517G>A (p.Arg2506Lys)
c.7421G>A (p.Arg2474Lys)
c.7391G>A (p.Arg2464Lys)
c.7316G>A (p.Arg2439Lys)
c.7214G>A (p.Arg2405Lys)
c.6845G>A (p.Arg2282Lys)
dbSNP
5g.112843288G>CCA16038043APCc.7748G>C (p.Arg2583Thr)
c.*7700G>C (n.*7700G>C)
c.7640G>C (p.Arg2547Thr)
c.7694G>C (p.Arg2565Thr)
c.231-13361G>C
c.7724G>C (p.Arg2575Thr)
c.7619G>C (p.Arg2540Thr)
c.7610G>C (p.Arg2537Thr)
c.7571G>C (p.Arg2524Thr)
c.7517G>C (p.Arg2506Thr)
c.7421G>C (p.Arg2474Thr)
c.7391G>C (p.Arg2464Thr)
c.7316G>C (p.Arg2439Thr)
c.7214G>C (p.Arg2405Thr)
c.6845G>C (p.Arg2282Thr)
dbSNP
5g.112843288G>TCA16038044APCc.7748G>T (p.Arg2583Ile)
c.*7700G>T (n.*7700G>T)
c.7640G>T (p.Arg2547Ile)
c.7694G>T (p.Arg2565Ile)
c.231-13361G>T
c.7724G>T (p.Arg2575Ile)
c.7619G>T (p.Arg2540Ile)
c.7610G>T (p.Arg2537Ile)
c.7571G>T (p.Arg2524Ile)
c.7517G>T (p.Arg2506Ile)
c.7421G>T (p.Arg2474Ile)
c.7391G>T (p.Arg2464Ile)
c.7316G>T (p.Arg2439Ile)
c.7214G>T (p.Arg2405Ile)
c.6845G>T (p.Arg2282Ile)
COSMIC
5g.112843289A>CCA16038045APCc.7749A>C (p.Arg2583Ser)
c.*7701A>C (n.*7701A>C)
c.7641A>C (p.Arg2547Ser)
c.7695A>C (p.Arg2565Ser)
c.231-13360A>C
c.7725A>C (p.Arg2575Ser)
c.7620A>C (p.Arg2540Ser)
c.7611A>C (p.Arg2537Ser)
c.7572A>C (p.Arg2524Ser)
c.7518A>C (p.Arg2506Ser)
c.7422A>C (p.Arg2474Ser)
c.7392A>C (p.Arg2464Ser)
c.7317A>C (p.Arg2439Ser)
c.7215A>C (p.Arg2405Ser)
c.6846A>C (p.Arg2282Ser)
5g.112843289A>GCA446211141APCc.7749A>G (p.Arg2583=)
c.*7701A>G (n.*7701A>G)
c.7641A>G (p.Arg2547=)
c.7695A>G (p.Arg2565=)
c.231-13360A>G
c.7725A>G (p.Arg2575=)
c.7620A>G (p.Arg2540=)
c.7611A>G (p.Arg2537=)
c.7572A>G (p.Arg2524=)
c.7518A>G (p.Arg2506=)
c.7422A>G (p.Arg2474=)
c.7392A>G (p.Arg2464=)
c.7317A>G (p.Arg2439=)
c.7215A>G (p.Arg2405=)
c.6846A>G (p.Arg2282=)
ClinVar
5g.112843289A>TCA16038046APCc.7749A>T (p.Arg2583Ser)
c.*7701A>T (n.*7701A>T)
c.7641A>T (p.Arg2547Ser)
c.7695A>T (p.Arg2565Ser)
c.231-13360A>T
c.7725A>T (p.Arg2575Ser)
c.7620A>T (p.Arg2540Ser)
c.7611A>T (p.Arg2537Ser)
c.7572A>T (p.Arg2524Ser)
c.7518A>T (p.Arg2506Ser)
c.7422A>T (p.Arg2474Ser)
c.7392A>T (p.Arg2464Ser)
c.7317A>T (p.Arg2439Ser)
c.7215A>T (p.Arg2405Ser)
c.6846A>T (p.Arg2282Ser)
dbSNP
5g.112843290A=CA1573472946APCc.7750A= (p.Arg2584=)
c.*7702A= (n.*7702A=)
c.7642A= (p.Arg2548=)
c.7696A= (p.Arg2566=)
c.231-13359A=
c.7726A= (p.Arg2576=)
c.7621A= (p.Arg2541=)
c.7612A= (p.Arg2538=)
c.7573A= (p.Arg2525=)
c.7519A= (p.Arg2507=)
c.7423A= (p.Arg2475=)
c.7393A= (p.Arg2465=)
c.7318A= (p.Arg2440=)
c.7216A= (p.Arg2406=)
c.6847A= (p.Arg2283=)
5g.112843290A>CCA16611743APCc.7750A>C (p.Arg2584=)
c.*7702A>C (n.*7702A>C)
c.7642A>C (p.Arg2548=)
c.7696A>C (p.Arg2566=)
c.231-13359A>C
c.7726A>C (p.Arg2576=)
c.7621A>C (p.Arg2541=)
c.7612A>C (p.Arg2538=)
c.7573A>C (p.Arg2525=)
c.7519A>C (p.Arg2507=)
c.7423A>C (p.Arg2475=)
c.7393A>C (p.Arg2465=)
c.7318A>C (p.Arg2440=)
c.7216A>C (p.Arg2406=)
c.6847A>C (p.Arg2283=)
ClinVar dbSNP gnomAD v4
5g.112843290A>GCA16038047APCc.7750A>G (p.Arg2584Gly)
c.*7702A>G (n.*7702A>G)
c.7642A>G (p.Arg2548Gly)
c.7696A>G (p.Arg2566Gly)
c.231-13359A>G
c.7726A>G (p.Arg2576Gly)
c.7621A>G (p.Arg2541Gly)
c.7612A>G (p.Arg2538Gly)
c.7573A>G (p.Arg2525Gly)
c.7519A>G (p.Arg2507Gly)
c.7423A>G (p.Arg2475Gly)
c.7393A>G (p.Arg2465Gly)
c.7318A>G (p.Arg2440Gly)
c.7216A>G (p.Arg2406Gly)
c.6847A>G (p.Arg2283Gly)
dbSNP gnomAD v4
5g.112843290A>TCA16038048APCc.7750A>T (p.Arg2584Ter)
c.*7702A>T (n.*7702A>T)
c.7642A>T (p.Arg2548Ter)
c.7696A>T (p.Arg2566Ter)
c.231-13359A>T
c.7726A>T (p.Arg2576Ter)
c.7621A>T (p.Arg2541Ter)
c.7612A>T (p.Arg2538Ter)
c.7573A>T (p.Arg2525Ter)
c.7519A>T (p.Arg2507Ter)
c.7423A>T (p.Arg2475Ter)
c.7393A>T (p.Arg2465Ter)
c.7318A>T (p.Arg2440Ter)
c.7216A>T (p.Arg2406Ter)
c.6847A>T (p.Arg2283Ter)
dbSNP
5g.112843291G>ACA16038049APCc.7751G>A (p.Arg2584Lys)
c.*7703G>A (n.*7703G>A)
c.7643G>A (p.Arg2548Lys)
c.7697G>A (p.Arg2566Lys)
c.231-13358G>A
c.7727G>A (p.Arg2576Lys)
c.7622G>A (p.Arg2541Lys)
c.7613G>A (p.Arg2538Lys)
c.7574G>A (p.Arg2525Lys)
c.7520G>A (p.Arg2507Lys)
c.7424G>A (p.Arg2475Lys)
c.7394G>A (p.Arg2465Lys)
c.7319G>A (p.Arg2440Lys)
c.7217G>A (p.Arg2406Lys)
c.6848G>A (p.Arg2283Lys)
dbSNP
5g.112843291G>CCA16038050APCc.7751G>C (p.Arg2584Thr)
c.*7703G>C (n.*7703G>C)
c.7643G>C (p.Arg2548Thr)
c.7697G>C (p.Arg2566Thr)
c.231-13358G>C
c.7727G>C (p.Arg2576Thr)
c.7622G>C (p.Arg2541Thr)
c.7613G>C (p.Arg2538Thr)
c.7574G>C (p.Arg2525Thr)
c.7520G>C (p.Arg2507Thr)
c.7424G>C (p.Arg2475Thr)
c.7394G>C (p.Arg2465Thr)
c.7319G>C (p.Arg2440Thr)
c.7217G>C (p.Arg2406Thr)
c.6848G>C (p.Arg2283Thr)
ClinVar dbSNP
5g.112843291G>TCA16038051APCc.7751G>T (p.Arg2584Ile)
c.*7703G>T (n.*7703G>T)
c.7643G>T (p.Arg2548Ile)
c.7697G>T (p.Arg2566Ile)
c.231-13358G>T
c.7727G>T (p.Arg2576Ile)
c.7622G>T (p.Arg2541Ile)
c.7613G>T (p.Arg2538Ile)
c.7574G>T (p.Arg2525Ile)
c.7520G>T (p.Arg2507Ile)
c.7424G>T (p.Arg2475Ile)
c.7394G>T (p.Arg2465Ile)
c.7319G>T (p.Arg2440Ile)
c.7217G>T (p.Arg2406Ile)
c.6848G>T (p.Arg2283Ile)
ClinVar gnomAD v4 COSMIC
5g.112843292A>CCA16038052APCc.7752A>C (p.Arg2584Ser)
c.*7704A>C (n.*7704A>C)
c.7644A>C (p.Arg2548Ser)
c.7698A>C (p.Arg2566Ser)
c.231-13357A>C
c.7728A>C (p.Arg2576Ser)
c.7623A>C (p.Arg2541Ser)
c.7614A>C (p.Arg2538Ser)
c.7575A>C (p.Arg2525Ser)
c.7521A>C (p.Arg2507Ser)
c.7425A>C (p.Arg2475Ser)
c.7395A>C (p.Arg2465Ser)
c.7320A>C (p.Arg2440Ser)
c.7218A>C (p.Arg2406Ser)
c.6849A>C (p.Arg2283Ser)
dbSNP
5g.112843292A>GCA446211142APCc.7752A>G (p.Arg2584=)
c.*7704A>G (n.*7704A>G)
c.7644A>G (p.Arg2548=)
c.7698A>G (p.Arg2566=)
c.231-13357A>G
c.7728A>G (p.Arg2576=)
c.7623A>G (p.Arg2541=)
c.7614A>G (p.Arg2538=)
c.7575A>G (p.Arg2525=)
c.7521A>G (p.Arg2507=)
c.7425A>G (p.Arg2475=)
c.7395A>G (p.Arg2465=)
c.7320A>G (p.Arg2440=)
c.7218A>G (p.Arg2406=)
c.6849A>G (p.Arg2283=)
dbSNP
5g.112843292A>TCA16038053APCc.7752A>T (p.Arg2584Ser)
c.*7704A>T (n.*7704A>T)
c.7644A>T (p.Arg2548Ser)
c.7698A>T (p.Arg2566Ser)
c.231-13357A>T
c.7728A>T (p.Arg2576Ser)
c.7623A>T (p.Arg2541Ser)
c.7614A>T (p.Arg2538Ser)
c.7575A>T (p.Arg2525Ser)
c.7521A>T (p.Arg2507Ser)
c.7425A>T (p.Arg2475Ser)
c.7395A>T (p.Arg2465Ser)
c.7320A>T (p.Arg2440Ser)
c.7218A>T (p.Arg2406Ser)
c.6849A>T (p.Arg2283Ser)
dbSNP
5g.112843293A>CCA16038054APCc.7753A>C (p.Thr2585Pro)
c.*7705A>C (n.*7705A>C)
c.7645A>C (p.Thr2549Pro)
c.7699A>C (p.Thr2567Pro)
c.231-13356A>C
c.7729A>C (p.Thr2577Pro)
c.7624A>C (p.Thr2542Pro)
c.7615A>C (p.Thr2539Pro)
c.7576A>C (p.Thr2526Pro)
c.7522A>C (p.Thr2508Pro)
c.7426A>C (p.Thr2476Pro)
c.7396A>C (p.Thr2466Pro)
c.7321A>C (p.Thr2441Pro)
c.7219A>C (p.Thr2407Pro)
c.6850A>C (p.Thr2284Pro)
dbSNP
5g.112843293A>GCA16038055APCc.7753A>G (p.Thr2585Ala)
c.*7705A>G (n.*7705A>G)
c.7645A>G (p.Thr2549Ala)
c.7699A>G (p.Thr2567Ala)
c.231-13356A>G
c.7729A>G (p.Thr2577Ala)
c.7624A>G (p.Thr2542Ala)
c.7615A>G (p.Thr2539Ala)
c.7576A>G (p.Thr2526Ala)
c.7522A>G (p.Thr2508Ala)
c.7426A>G (p.Thr2476Ala)
c.7396A>G (p.Thr2466Ala)
c.7321A>G (p.Thr2441Ala)
c.7219A>G (p.Thr2407Ala)
c.6850A>G (p.Thr2284Ala)
dbSNP
5g.112843293A>TCA16038056APCc.7753A>T (p.Thr2585Ser)
c.*7705A>T (n.*7705A>T)
c.7645A>T (p.Thr2549Ser)
c.7699A>T (p.Thr2567Ser)
c.231-13356A>T
c.7729A>T (p.Thr2577Ser)
c.7624A>T (p.Thr2542Ser)
c.7615A>T (p.Thr2539Ser)
c.7576A>T (p.Thr2526Ser)
c.7522A>T (p.Thr2508Ser)
c.7426A>T (p.Thr2476Ser)
c.7396A>T (p.Thr2466Ser)
c.7321A>T (p.Thr2441Ser)
c.7219A>T (p.Thr2407Ser)
c.6850A>T (p.Thr2284Ser)
ClinVar dbSNP gnomAD v4
5g.112843294C>ACA16038057APCc.7754C>A (p.Thr2585Asn)
c.*7706C>A (n.*7706C>A)
c.7646C>A (p.Thr2549Asn)
c.7700C>A (p.Thr2567Asn)
c.231-13355C>A
c.7730C>A (p.Thr2577Asn)
c.7625C>A (p.Thr2542Asn)
c.7616C>A (p.Thr2539Asn)
c.7577C>A (p.Thr2526Asn)
c.7523C>A (p.Thr2508Asn)
c.7427C>A (p.Thr2476Asn)
c.7397C>A (p.Thr2466Asn)
c.7322C>A (p.Thr2441Asn)
c.7220C>A (p.Thr2407Asn)
c.6851C>A (p.Thr2284Asn)
dbSNP
5g.112843294C>GCA16038058APCc.7754C>G (p.Thr2585Ser)
c.*7706C>G (n.*7706C>G)
c.7646C>G (p.Thr2549Ser)
c.7700C>G (p.Thr2567Ser)
c.231-13355C>G
c.7730C>G (p.Thr2577Ser)
c.7625C>G (p.Thr2542Ser)
c.7616C>G (p.Thr2539Ser)
c.7577C>G (p.Thr2526Ser)
c.7523C>G (p.Thr2508Ser)
c.7427C>G (p.Thr2476Ser)
c.7397C>G (p.Thr2466Ser)
c.7322C>G (p.Thr2441Ser)
c.7220C>G (p.Thr2407Ser)
c.6851C>G (p.Thr2284Ser)
dbSNP
5g.112843294C>TCA16038059APCc.7754C>T (p.Thr2585Ile)
c.*7706C>T (n.*7706C>T)
c.7646C>T (p.Thr2549Ile)
c.7700C>T (p.Thr2567Ile)
c.231-13355C>T
c.7730C>T (p.Thr2577Ile)
c.7625C>T (p.Thr2542Ile)
c.7616C>T (p.Thr2539Ile)
c.7577C>T (p.Thr2526Ile)
c.7523C>T (p.Thr2508Ile)
c.7427C>T (p.Thr2476Ile)
c.7397C>T (p.Thr2466Ile)
c.7322C>T (p.Thr2441Ile)
c.7220C>T (p.Thr2407Ile)
c.6851C>T (p.Thr2284Ile)
dbSNP gnomAD v4
5g.112843295T>ACA446211143APCc.7755T>A (p.Thr2585=)
c.*7707T>A (n.*7707T>A)
c.7647T>A (p.Thr2549=)
c.7701T>A (p.Thr2567=)
c.231-13354T>A
c.7731T>A (p.Thr2577=)
c.7626T>A (p.Thr2542=)
c.7617T>A (p.Thr2539=)
c.7578T>A (p.Thr2526=)
c.7524T>A (p.Thr2508=)
c.7428T>A (p.Thr2476=)
c.7398T>A (p.Thr2466=)
c.7323T>A (p.Thr2441=)
c.7221T>A (p.Thr2407=)
c.6852T>A (p.Thr2284=)
5g.112843295T>CCA446211144APCc.7755T>C (p.Thr2585=)
c.*7707T>C (n.*7707T>C)
c.7647T>C (p.Thr2549=)
c.7701T>C (p.Thr2567=)
c.231-13354T>C
c.7731T>C (p.Thr2577=)
c.7626T>C (p.Thr2542=)
c.7617T>C (p.Thr2539=)
c.7578T>C (p.Thr2526=)
c.7524T>C (p.Thr2508=)
c.7428T>C (p.Thr2476=)
c.7398T>C (p.Thr2466=)
c.7323T>C (p.Thr2441=)
c.7221T>C (p.Thr2407=)
c.6852T>C (p.Thr2284=)
ClinVar
5g.112843295T>GCA446211145APCc.7755T>G (p.Thr2585=)
c.*7707T>G (n.*7707T>G)
c.7647T>G (p.Thr2549=)
c.7701T>G (p.Thr2567=)
c.231-13354T>G
c.7731T>G (p.Thr2577=)
c.7626T>G (p.Thr2542=)
c.7617T>G (p.Thr2539=)
c.7578T>G (p.Thr2526=)
c.7524T>G (p.Thr2508=)
c.7428T>G (p.Thr2476=)
c.7398T>G (p.Thr2466=)
c.7323T>G (p.Thr2441=)
c.7221T>G (p.Thr2407=)
c.6852T>G (p.Thr2284=)
5g.112843295_112843296delCA2580072400APCc.7755_7756del (p.Gly2586LysfsTer14)
c.*7707_*7708del (n.*7707_*7708del)
c.7647_7648del (p.Gly2550LysfsTer14)
c.7701_7702del (p.Gly2568LysfsTer14)
c.231-13354_231-13353del
c.7731_7732del (p.Gly2578LysfsTer14)
c.7626_7627del (p.Gly2543LysfsTer14)
c.7617_7618del (p.Gly2540LysfsTer14)
c.7578_7579del (p.Gly2527LysfsTer14)
c.7524_7525del (p.Gly2509LysfsTer14)
c.7428_7429del (p.Gly2477LysfsTer14)
c.7398_7399del (p.Gly2467LysfsTer14)
c.7323_7324del (p.Gly2442LysfsTer14)
c.7221_7222del (p.Gly2408LysfsTer14)
c.6852_6853del (p.Gly2285LysfsTer14)
ClinVar
5g.112843296G>ACA16038060APCc.7756G>A (p.Gly2586Arg)
c.*7708G>A (n.*7708G>A)
c.7648G>A (p.Gly2550Arg)
c.7702G>A (p.Gly2568Arg)
c.231-13353G>A
c.7732G>A (p.Gly2578Arg)
c.7627G>A (p.Gly2543Arg)
c.7618G>A (p.Gly2540Arg)
c.7579G>A (p.Gly2527Arg)
c.7525G>A (p.Gly2509Arg)
c.7429G>A (p.Gly2477Arg)
c.7399G>A (p.Gly2467Arg)
c.7324G>A (p.Gly2442Arg)
c.7222G>A (p.Gly2408Arg)
c.6853G>A (p.Gly2285Arg)
dbSNP gnomAD v4
5g.112843296G>CCA16038061APCc.7756G>C (p.Gly2586Arg)
c.*7708G>C (n.*7708G>C)
c.7648G>C (p.Gly2550Arg)
c.7702G>C (p.Gly2568Arg)
c.231-13353G>C
c.7732G>C (p.Gly2578Arg)
c.7627G>C (p.Gly2543Arg)
c.7618G>C (p.Gly2540Arg)
c.7579G>C (p.Gly2527Arg)
c.7525G>C (p.Gly2509Arg)
c.7429G>C (p.Gly2477Arg)
c.7399G>C (p.Gly2467Arg)
c.7324G>C (p.Gly2442Arg)
c.7222G>C (p.Gly2408Arg)
c.6853G>C (p.Gly2285Arg)
dbSNP
5g.112843296G>TCA16038062APCc.7756G>T (p.Gly2586Ter)
c.*7708G>T (n.*7708G>T)
c.7648G>T (p.Gly2550Ter)
c.7702G>T (p.Gly2568Ter)
c.231-13353G>T
c.7732G>T (p.Gly2578Ter)
c.7627G>T (p.Gly2543Ter)
c.7618G>T (p.Gly2540Ter)
c.7579G>T (p.Gly2527Ter)
c.7525G>T (p.Gly2509Ter)
c.7429G>T (p.Gly2477Ter)
c.7399G>T (p.Gly2467Ter)
c.7324G>T (p.Gly2442Ter)
c.7222G>T (p.Gly2408Ter)
c.6853G>T (p.Gly2285Ter)
dbSNP
5g.112843297G>ACA16038063APCc.7757G>A (p.Gly2586Glu)
c.*7709G>A (n.*7709G>A)
c.7649G>A (p.Gly2550Glu)
c.7703G>A (p.Gly2568Glu)
c.231-13352G>A
c.7733G>A (p.Gly2578Glu)
c.7628G>A (p.Gly2543Glu)
c.7619G>A (p.Gly2540Glu)
c.7580G>A (p.Gly2527Glu)
c.7526G>A (p.Gly2509Glu)
c.7430G>A (p.Gly2477Glu)
c.7400G>A (p.Gly2467Glu)
c.7325G>A (p.Gly2442Glu)
c.7223G>A (p.Gly2408Glu)
c.6854G>A (p.Gly2285Glu)
dbSNP gnomAD v4
5g.112843297G>CCA16038064APCc.7757G>C (p.Gly2586Ala)
c.*7709G>C (n.*7709G>C)
c.7649G>C (p.Gly2550Ala)
c.7703G>C (p.Gly2568Ala)
c.231-13352G>C
c.7733G>C (p.Gly2578Ala)
c.7628G>C (p.Gly2543Ala)
c.7619G>C (p.Gly2540Ala)
c.7580G>C (p.Gly2527Ala)
c.7526G>C (p.Gly2509Ala)
c.7430G>C (p.Gly2477Ala)
c.7400G>C (p.Gly2467Ala)
c.7325G>C (p.Gly2442Ala)
c.7223G>C (p.Gly2408Ala)
c.6854G>C (p.Gly2285Ala)
ClinVar dbSNP
5g.112843297G=CA1573472951APCc.7757G= (p.Gly2586=)
c.*7709G= (n.*7709G=)
c.7649G= (p.Gly2550=)
c.7703G= (p.Gly2568=)
c.231-13352G=
c.7733G= (p.Gly2578=)
c.7628G= (p.Gly2543=)
c.7619G= (p.Gly2540=)
c.7580G= (p.Gly2527=)
c.7526G= (p.Gly2509=)
c.7430G= (p.Gly2477=)
c.7400G= (p.Gly2467=)
c.7325G= (p.Gly2442=)
c.7223G= (p.Gly2408=)
c.6854G= (p.Gly2285=)
5g.112843297G>TCA16038065APCc.7757G>T (p.Gly2586Val)
c.*7709G>T (n.*7709G>T)
c.7649G>T (p.Gly2550Val)
c.7703G>T (p.Gly2568Val)
c.231-13352G>T
c.7733G>T (p.Gly2578Val)
c.7628G>T (p.Gly2543Val)
c.7619G>T (p.Gly2540Val)
c.7580G>T (p.Gly2527Val)
c.7526G>T (p.Gly2509Val)
c.7430G>T (p.Gly2477Val)
c.7400G>T (p.Gly2467Val)
c.7325G>T (p.Gly2442Val)
c.7223G>T (p.Gly2408Val)
c.6854G>T (p.Gly2285Val)
dbSNP

Number of alleles fetched