Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.112843146_112843148delCA2573138673APCc.7606_7608del (p.Asn2536del)
c.*7558_*7560del (n.*7558_*7560del)
c.7498_7500del (p.Asn2500del)
c.7552_7554del (p.Asn2518del)
c.231-13503_231-13501del
c.7582_7584del (p.Asn2528del)
c.7477_7479del (p.Asn2493del)
c.7468_7470del (p.Asn2490del)
c.7429_7431del (p.Asn2477del)
c.7375_7377del (p.Asn2459del)
c.7279_7281del (p.Asn2427del)
c.7249_7251del (p.Asn2417del)
c.7174_7176del (p.Asn2392del)
c.7072_7074del (p.Asn2358del)
c.6703_6705del (p.Asn2235del)
ClinVar dbSNP
5g.112843146A=CA1573471778APCc.7606A= (p.Asn2536=)
c.*7558A= (n.*7558A=)
c.7498A= (p.Asn2500=)
c.7552A= (p.Asn2518=)
c.231-13503A=
c.7582A= (p.Asn2528=)
c.7477A= (p.Asn2493=)
c.7468A= (p.Asn2490=)
c.7429A= (p.Asn2477=)
c.7375A= (p.Asn2459=)
c.7279A= (p.Asn2427=)
c.7249A= (p.Asn2417=)
c.7174A= (p.Asn2392=)
c.7072A= (p.Asn2358=)
c.6703A= (p.Asn2235=)
5g.112843146A>CCA16037745APCc.7606A>C (p.Asn2536His)
c.*7558A>C (n.*7558A>C)
c.7498A>C (p.Asn2500His)
c.7552A>C (p.Asn2518His)
c.231-13503A>C
c.7582A>C (p.Asn2528His)
c.7477A>C (p.Asn2493His)
c.7468A>C (p.Asn2490His)
c.7429A>C (p.Asn2477His)
c.7375A>C (p.Asn2459His)
c.7279A>C (p.Asn2427His)
c.7249A>C (p.Asn2417His)
c.7174A>C (p.Asn2392His)
c.7072A>C (p.Asn2358His)
c.6703A>C (p.Asn2235His)
5g.112843146A>GCA16037746APCc.7606A>G (p.Asn2536Asp)
c.*7558A>G (n.*7558A>G)
c.7498A>G (p.Asn2500Asp)
c.7552A>G (p.Asn2518Asp)
c.231-13503A>G
c.7582A>G (p.Asn2528Asp)
c.7477A>G (p.Asn2493Asp)
c.7468A>G (p.Asn2490Asp)
c.7429A>G (p.Asn2477Asp)
c.7375A>G (p.Asn2459Asp)
c.7279A>G (p.Asn2427Asp)
c.7249A>G (p.Asn2417Asp)
c.7174A>G (p.Asn2392Asp)
c.7072A>G (p.Asn2358Asp)
c.6703A>G (p.Asn2235Asp)
ClinVar dbSNP
5g.112843146A>TCA16037747APCc.7606A>T (p.Asn2536Tyr)
c.*7558A>T (n.*7558A>T)
c.7498A>T (p.Asn2500Tyr)
c.7552A>T (p.Asn2518Tyr)
c.231-13503A>T
c.7582A>T (p.Asn2528Tyr)
c.7477A>T (p.Asn2493Tyr)
c.7468A>T (p.Asn2490Tyr)
c.7429A>T (p.Asn2477Tyr)
c.7375A>T (p.Asn2459Tyr)
c.7279A>T (p.Asn2427Tyr)
c.7249A>T (p.Asn2417Tyr)
c.7174A>T (p.Asn2392Tyr)
c.7072A>T (p.Asn2358Tyr)
c.6703A>T (p.Asn2235Tyr)
dbSNP
5g.112843147A=CA1573471790APCc.7607A= (p.Asn2536=)
c.*7559A= (n.*7559A=)
c.7499A= (p.Asn2500=)
c.7553A= (p.Asn2518=)
c.231-13502A=
c.7583A= (p.Asn2528=)
c.7478A= (p.Asn2493=)
c.7469A= (p.Asn2490=)
c.7430A= (p.Asn2477=)
c.7376A= (p.Asn2459=)
c.7280A= (p.Asn2427=)
c.7250A= (p.Asn2417=)
c.7175A= (p.Asn2392=)
c.7073A= (p.Asn2358=)
c.6704A= (p.Asn2235=)
5g.112843147A>CCA16037748APCc.7607A>C (p.Asn2536Thr)
c.*7559A>C (n.*7559A>C)
c.7499A>C (p.Asn2500Thr)
c.7553A>C (p.Asn2518Thr)
c.231-13502A>C
c.7583A>C (p.Asn2528Thr)
c.7478A>C (p.Asn2493Thr)
c.7469A>C (p.Asn2490Thr)
c.7430A>C (p.Asn2477Thr)
c.7376A>C (p.Asn2459Thr)
c.7280A>C (p.Asn2427Thr)
c.7250A>C (p.Asn2417Thr)
c.7175A>C (p.Asn2392Thr)
c.7073A>C (p.Asn2358Thr)
c.6704A>C (p.Asn2235Thr)
dbSNP
5g.112843147A>GCA048409APCc.7607A>G (p.Asn2536Ser)
c.*7559A>G (n.*7559A>G)
c.7499A>G (p.Asn2500Ser)
c.7553A>G (p.Asn2518Ser)
c.231-13502A>G
c.7583A>G (p.Asn2528Ser)
c.7478A>G (p.Asn2493Ser)
c.7469A>G (p.Asn2490Ser)
c.7430A>G (p.Asn2477Ser)
c.7376A>G (p.Asn2459Ser)
c.7280A>G (p.Asn2427Ser)
c.7250A>G (p.Asn2417Ser)
c.7175A>G (p.Asn2392Ser)
c.7073A>G (p.Asn2358Ser)
c.6704A>G (p.Asn2235Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112843147A>TCA16037749APCc.7607A>T (p.Asn2536Ile)
c.*7559A>T (n.*7559A>T)
c.7499A>T (p.Asn2500Ile)
c.7553A>T (p.Asn2518Ile)
c.231-13502A>T
c.7583A>T (p.Asn2528Ile)
c.7478A>T (p.Asn2493Ile)
c.7469A>T (p.Asn2490Ile)
c.7430A>T (p.Asn2477Ile)
c.7376A>T (p.Asn2459Ile)
c.7280A>T (p.Asn2427Ile)
c.7250A>T (p.Asn2417Ile)
c.7175A>T (p.Asn2392Ile)
c.7073A>T (p.Asn2358Ile)
c.6704A>T (p.Asn2235Ile)
dbSNP
5g.112843148T>ACA16037750APCc.7608T>A (p.Asn2536Lys)
c.*7560T>A (n.*7560T>A)
c.7500T>A (p.Asn2500Lys)
c.7554T>A (p.Asn2518Lys)
c.231-13501T>A
c.7584T>A (p.Asn2528Lys)
c.7479T>A (p.Asn2493Lys)
c.7470T>A (p.Asn2490Lys)
c.7431T>A (p.Asn2477Lys)
c.7377T>A (p.Asn2459Lys)
c.7281T>A (p.Asn2427Lys)
c.7251T>A (p.Asn2417Lys)
c.7176T>A (p.Asn2392Lys)
c.7074T>A (p.Asn2358Lys)
c.6705T>A (p.Asn2235Lys)
dbSNP
5g.112843148T>CCA446210892APCc.7608T>C (p.Asn2536=)
c.*7560T>C (n.*7560T>C)
c.7500T>C (p.Asn2500=)
c.7554T>C (p.Asn2518=)
c.231-13501T>C
c.7584T>C (p.Asn2528=)
c.7479T>C (p.Asn2493=)
c.7470T>C (p.Asn2490=)
c.7431T>C (p.Asn2477=)
c.7377T>C (p.Asn2459=)
c.7281T>C (p.Asn2427=)
c.7251T>C (p.Asn2417=)
c.7176T>C (p.Asn2392=)
c.7074T>C (p.Asn2358=)
c.6705T>C (p.Asn2235=)
dbSNP gnomAD v2 gnomAD v4
5g.112843148T>GCA16037751APCc.7608T>G (p.Asn2536Lys)
c.*7560T>G (n.*7560T>G)
c.7500T>G (p.Asn2500Lys)
c.7554T>G (p.Asn2518Lys)
c.231-13501T>G
c.7584T>G (p.Asn2528Lys)
c.7479T>G (p.Asn2493Lys)
c.7470T>G (p.Asn2490Lys)
c.7431T>G (p.Asn2477Lys)
c.7377T>G (p.Asn2459Lys)
c.7281T>G (p.Asn2427Lys)
c.7251T>G (p.Asn2417Lys)
c.7176T>G (p.Asn2392Lys)
c.7074T>G (p.Asn2358Lys)
c.6705T>G (p.Asn2235Lys)
ClinVar
5g.112843148T=CA1573471800APCc.7608T= (p.Asn2536=)
c.*7560T= (n.*7560T=)
c.7500T= (p.Asn2500=)
c.7554T= (p.Asn2518=)
c.231-13501T=
c.7584T= (p.Asn2528=)
c.7479T= (p.Asn2493=)
c.7470T= (p.Asn2490=)
c.7431T= (p.Asn2477=)
c.7377T= (p.Asn2459=)
c.7281T= (p.Asn2427=)
c.7251T= (p.Asn2417=)
c.7176T= (p.Asn2392=)
c.7074T= (p.Asn2358=)
c.6705T= (p.Asn2235=)
5g.112843149G>ACA16037752APCc.7609G>A (p.Asp2537Asn)
c.*7561G>A (n.*7561G>A)
c.7501G>A (p.Asp2501Asn)
c.7555G>A (p.Asp2519Asn)
c.231-13500G>A
c.7585G>A (p.Asp2529Asn)
c.7480G>A (p.Asp2494Asn)
c.7471G>A (p.Asp2491Asn)
c.7432G>A (p.Asp2478Asn)
c.7378G>A (p.Asp2460Asn)
c.7282G>A (p.Asp2428Asn)
c.7252G>A (p.Asp2418Asn)
c.7177G>A (p.Asp2393Asn)
c.7075G>A (p.Asp2359Asn)
c.6706G>A (p.Asp2236Asn)
dbSNP
5g.112843149G>CCA16037753APCc.7609G>C (p.Asp2537His)
c.*7561G>C (n.*7561G>C)
c.7501G>C (p.Asp2501His)
c.7555G>C (p.Asp2519His)
c.231-13500G>C
c.7585G>C (p.Asp2529His)
c.7480G>C (p.Asp2494His)
c.7471G>C (p.Asp2491His)
c.7432G>C (p.Asp2478His)
c.7378G>C (p.Asp2460His)
c.7282G>C (p.Asp2428His)
c.7252G>C (p.Asp2418His)
c.7177G>C (p.Asp2393His)
c.7075G>C (p.Asp2359His)
c.6706G>C (p.Asp2236His)
dbSNP
5g.112843149G>TCA16037754APCc.7609G>T (p.Asp2537Tyr)
c.*7561G>T (n.*7561G>T)
c.7501G>T (p.Asp2501Tyr)
c.7555G>T (p.Asp2519Tyr)
c.231-13500G>T
c.7585G>T (p.Asp2529Tyr)
c.7480G>T (p.Asp2494Tyr)
c.7471G>T (p.Asp2491Tyr)
c.7432G>T (p.Asp2478Tyr)
c.7378G>T (p.Asp2460Tyr)
c.7282G>T (p.Asp2428Tyr)
c.7252G>T (p.Asp2418Tyr)
c.7177G>T (p.Asp2393Tyr)
c.7075G>T (p.Asp2359Tyr)
c.6706G>T (p.Asp2236Tyr)
dbSNP COSMIC
5g.112843150A=CA1573471834APCc.7610A= (p.Asp2537=)
c.*7562A= (n.*7562A=)
c.7502A= (p.Asp2501=)
c.7556A= (p.Asp2519=)
c.231-13499A=
c.7586A= (p.Asp2529=)
c.7481A= (p.Asp2494=)
c.7472A= (p.Asp2491=)
c.7433A= (p.Asp2478=)
c.7379A= (p.Asp2460=)
c.7283A= (p.Asp2428=)
c.7253A= (p.Asp2418=)
c.7178A= (p.Asp2393=)
c.7076A= (p.Asp2359=)
c.6707A= (p.Asp2236=)
5g.112843150A>CCA16037755APCc.7610A>C (p.Asp2537Ala)
c.*7562A>C (n.*7562A>C)
c.7502A>C (p.Asp2501Ala)
c.7556A>C (p.Asp2519Ala)
c.231-13499A>C
c.7586A>C (p.Asp2529Ala)
c.7481A>C (p.Asp2494Ala)
c.7472A>C (p.Asp2491Ala)
c.7433A>C (p.Asp2478Ala)
c.7379A>C (p.Asp2460Ala)
c.7283A>C (p.Asp2428Ala)
c.7253A>C (p.Asp2418Ala)
c.7178A>C (p.Asp2393Ala)
c.7076A>C (p.Asp2359Ala)
c.6707A>C (p.Asp2236Ala)
5g.112843150A>GCA16037756APCc.7610A>G (p.Asp2537Gly)
c.*7562A>G (n.*7562A>G)
c.7502A>G (p.Asp2501Gly)
c.7556A>G (p.Asp2519Gly)
c.231-13499A>G
c.7586A>G (p.Asp2529Gly)
c.7481A>G (p.Asp2494Gly)
c.7472A>G (p.Asp2491Gly)
c.7433A>G (p.Asp2478Gly)
c.7379A>G (p.Asp2460Gly)
c.7283A>G (p.Asp2428Gly)
c.7253A>G (p.Asp2418Gly)
c.7178A>G (p.Asp2393Gly)
c.7076A>G (p.Asp2359Gly)
c.6707A>G (p.Asp2236Gly)
ClinVar dbSNP
5g.112843150A>TCA16037757APCc.7610A>T (p.Asp2537Val)
c.*7562A>T (n.*7562A>T)
c.7502A>T (p.Asp2501Val)
c.7556A>T (p.Asp2519Val)
c.231-13499A>T
c.7586A>T (p.Asp2529Val)
c.7481A>T (p.Asp2494Val)
c.7472A>T (p.Asp2491Val)
c.7433A>T (p.Asp2478Val)
c.7379A>T (p.Asp2460Val)
c.7283A>T (p.Asp2428Val)
c.7253A>T (p.Asp2418Val)
c.7178A>T (p.Asp2393Val)
c.7076A>T (p.Asp2359Val)
c.6707A>T (p.Asp2236Val)
dbSNP COSMIC
5g.112843151T>ACA16037758APCc.7611T>A (p.Asp2537Glu)
c.*7563T>A (n.*7563T>A)
c.7503T>A (p.Asp2501Glu)
c.7557T>A (p.Asp2519Glu)
c.231-13498T>A
c.7587T>A (p.Asp2529Glu)
c.7482T>A (p.Asp2494Glu)
c.7473T>A (p.Asp2491Glu)
c.7434T>A (p.Asp2478Glu)
c.7380T>A (p.Asp2460Glu)
c.7284T>A (p.Asp2428Glu)
c.7254T>A (p.Asp2418Glu)
c.7179T>A (p.Asp2393Glu)
c.7077T>A (p.Asp2359Glu)
c.6708T>A (p.Asp2236Glu)
5g.112843151T>CCA348079APCc.7611T>C (p.Asp2537=)
c.*7563T>C (n.*7563T>C)
c.7503T>C (p.Asp2501=)
c.7557T>C (p.Asp2519=)
c.231-13498T>C
c.7587T>C (p.Asp2529=)
c.7482T>C (p.Asp2494=)
c.7473T>C (p.Asp2491=)
c.7434T>C (p.Asp2478=)
c.7380T>C (p.Asp2460=)
c.7284T>C (p.Asp2428=)
c.7254T>C (p.Asp2418=)
c.7179T>C (p.Asp2393=)
c.7077T>C (p.Asp2359=)
c.6708T>C (p.Asp2236=)
ClinVar dbSNP gnomAD v4
5g.112843151T>GCA16037759APCc.7611T>G (p.Asp2537Glu)
c.*7563T>G (n.*7563T>G)
c.7503T>G (p.Asp2501Glu)
c.7557T>G (p.Asp2519Glu)
c.231-13498T>G
c.7587T>G (p.Asp2529Glu)
c.7482T>G (p.Asp2494Glu)
c.7473T>G (p.Asp2491Glu)
c.7434T>G (p.Asp2478Glu)
c.7380T>G (p.Asp2460Glu)
c.7284T>G (p.Asp2428Glu)
c.7254T>G (p.Asp2418Glu)
c.7179T>G (p.Asp2393Glu)
c.7077T>G (p.Asp2359Glu)
c.6708T>G (p.Asp2236Glu)
5g.112843151T=CA1573471841APCc.7611T= (p.Asp2537=)
c.*7563T= (n.*7563T=)
c.7503T= (p.Asp2501=)
c.7557T= (p.Asp2519=)
c.231-13498T=
c.7587T= (p.Asp2529=)
c.7482T= (p.Asp2494=)
c.7473T= (p.Asp2491=)
c.7434T= (p.Asp2478=)
c.7380T= (p.Asp2460=)
c.7284T= (p.Asp2428=)
c.7254T= (p.Asp2418=)
c.7179T= (p.Asp2393=)
c.7077T= (p.Asp2359=)
c.6708T= (p.Asp2236=)
5g.112843152G>ACA013827APCc.7612G>A (p.Gly2538Arg)
c.*7564G>A (n.*7564G>A)
c.7504G>A (p.Gly2502Arg)
c.7558G>A (p.Gly2520Arg)
c.231-13497G>A
c.7588G>A (p.Gly2530Arg)
c.7483G>A (p.Gly2495Arg)
c.7474G>A (p.Gly2492Arg)
c.7435G>A (p.Gly2479Arg)
c.7381G>A (p.Gly2461Arg)
c.7285G>A (p.Gly2429Arg)
c.7255G>A (p.Gly2419Arg)
c.7180G>A (p.Gly2394Arg)
c.7078G>A (p.Gly2360Arg)
c.6709G>A (p.Gly2237Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843152G>CCA16037760APCc.7612G>C (p.Gly2538Arg)
c.*7564G>C (n.*7564G>C)
c.7504G>C (p.Gly2502Arg)
c.7558G>C (p.Gly2520Arg)
c.231-13497G>C
c.7588G>C (p.Gly2530Arg)
c.7483G>C (p.Gly2495Arg)
c.7474G>C (p.Gly2492Arg)
c.7435G>C (p.Gly2479Arg)
c.7381G>C (p.Gly2461Arg)
c.7285G>C (p.Gly2429Arg)
c.7255G>C (p.Gly2419Arg)
c.7180G>C (p.Gly2394Arg)
c.7078G>C (p.Gly2360Arg)
c.6709G>C (p.Gly2237Arg)
5g.112843152G=CA1573471856APCc.7612G= (p.Gly2538=)
c.*7564G= (n.*7564G=)
c.7504G= (p.Gly2502=)
c.7558G= (p.Gly2520=)
c.231-13497G=
c.7588G= (p.Gly2530=)
c.7483G= (p.Gly2495=)
c.7474G= (p.Gly2492=)
c.7435G= (p.Gly2479=)
c.7381G= (p.Gly2461=)
c.7285G= (p.Gly2429=)
c.7255G= (p.Gly2419=)
c.7180G= (p.Gly2394=)
c.7078G= (p.Gly2360=)
c.6709G= (p.Gly2237=)
5g.112843152G>TCA16037761APCc.7612G>T (p.Gly2538Ter)
c.*7564G>T (n.*7564G>T)
c.7504G>T (p.Gly2502Ter)
c.7558G>T (p.Gly2520Ter)
c.231-13497G>T
c.7588G>T (p.Gly2530Ter)
c.7483G>T (p.Gly2495Ter)
c.7474G>T (p.Gly2492Ter)
c.7435G>T (p.Gly2479Ter)
c.7381G>T (p.Gly2461Ter)
c.7285G>T (p.Gly2429Ter)
c.7255G>T (p.Gly2419Ter)
c.7180G>T (p.Gly2394Ter)
c.7078G>T (p.Gly2360Ter)
c.6709G>T (p.Gly2237Ter)
dbSNP
5g.112843153G>ACA16037762APCc.7613G>A (p.Gly2538Glu)
c.*7565G>A (n.*7565G>A)
c.7505G>A (p.Gly2502Glu)
c.7559G>A (p.Gly2520Glu)
c.231-13496G>A
c.7589G>A (p.Gly2530Glu)
c.7484G>A (p.Gly2495Glu)
c.7475G>A (p.Gly2492Glu)
c.7436G>A (p.Gly2479Glu)
c.7382G>A (p.Gly2461Glu)
c.7286G>A (p.Gly2429Glu)
c.7256G>A (p.Gly2419Glu)
c.7181G>A (p.Gly2394Glu)
c.7079G>A (p.Gly2360Glu)
c.6710G>A (p.Gly2237Glu)
dbSNP
5g.112843153G>CCA16037763APCc.7613G>C (p.Gly2538Ala)
c.*7565G>C (n.*7565G>C)
c.7505G>C (p.Gly2502Ala)
c.7559G>C (p.Gly2520Ala)
c.231-13496G>C
c.7589G>C (p.Gly2530Ala)
c.7484G>C (p.Gly2495Ala)
c.7475G>C (p.Gly2492Ala)
c.7436G>C (p.Gly2479Ala)
c.7382G>C (p.Gly2461Ala)
c.7286G>C (p.Gly2429Ala)
c.7256G>C (p.Gly2419Ala)
c.7181G>C (p.Gly2394Ala)
c.7079G>C (p.Gly2360Ala)
c.6710G>C (p.Gly2237Ala)
dbSNP
5g.112843153G>TCA16037764APCc.7613G>T (p.Gly2538Val)
c.*7565G>T (n.*7565G>T)
c.7505G>T (p.Gly2502Val)
c.7559G>T (p.Gly2520Val)
c.231-13496G>T
c.7589G>T (p.Gly2530Val)
c.7484G>T (p.Gly2495Val)
c.7475G>T (p.Gly2492Val)
c.7436G>T (p.Gly2479Val)
c.7382G>T (p.Gly2461Val)
c.7286G>T (p.Gly2429Val)
c.7256G>T (p.Gly2419Val)
c.7181G>T (p.Gly2394Val)
c.7079G>T (p.Gly2360Val)
c.6710G>T (p.Gly2237Val)
dbSNP
5g.112843154A=CA1573471871APCc.7614A= (p.Gly2538=)
c.*7566A= (n.*7566A=)
c.7506A= (p.Gly2502=)
c.7560A= (p.Gly2520=)
c.231-13495A=
c.7590A= (p.Gly2530=)
c.7485A= (p.Gly2495=)
c.7476A= (p.Gly2492=)
c.7437A= (p.Gly2479=)
c.7383A= (p.Gly2461=)
c.7287A= (p.Gly2429=)
c.7257A= (p.Gly2419=)
c.7182A= (p.Gly2394=)
c.7080A= (p.Gly2360=)
c.6711A= (p.Gly2237=)
5g.112843154A>CCA446210893APCc.7614A>C (p.Gly2538=)
c.*7566A>C (n.*7566A>C)
c.7506A>C (p.Gly2502=)
c.7560A>C (p.Gly2520=)
c.231-13495A>C
c.7590A>C (p.Gly2530=)
c.7485A>C (p.Gly2495=)
c.7476A>C (p.Gly2492=)
c.7437A>C (p.Gly2479=)
c.7383A>C (p.Gly2461=)
c.7287A>C (p.Gly2429=)
c.7257A>C (p.Gly2419=)
c.7182A>C (p.Gly2394=)
c.7080A>C (p.Gly2360=)
c.6711A>C (p.Gly2237=)
5g.112843154A>GCA446210894APCc.7614A>G (p.Gly2538=)
c.*7566A>G (n.*7566A>G)
c.7506A>G (p.Gly2502=)
c.7560A>G (p.Gly2520=)
c.231-13495A>G
c.7590A>G (p.Gly2530=)
c.7485A>G (p.Gly2495=)
c.7476A>G (p.Gly2492=)
c.7437A>G (p.Gly2479=)
c.7383A>G (p.Gly2461=)
c.7287A>G (p.Gly2429=)
c.7257A>G (p.Gly2419=)
c.7182A>G (p.Gly2394=)
c.7080A>G (p.Gly2360=)
c.6711A>G (p.Gly2237=)
ClinVar dbSNP
5g.112843154A>TCA446210895APCc.7614A>T (p.Gly2538=)
c.*7566A>T (n.*7566A>T)
c.7506A>T (p.Gly2502=)
c.7560A>T (p.Gly2520=)
c.231-13495A>T
c.7590A>T (p.Gly2530=)
c.7485A>T (p.Gly2495=)
c.7476A>T (p.Gly2492=)
c.7437A>T (p.Gly2479=)
c.7383A>T (p.Gly2461=)
c.7287A>T (p.Gly2429=)
c.7257A>T (p.Gly2419=)
c.7182A>T (p.Gly2394=)
c.7080A>T (p.Gly2360=)
c.6711A>T (p.Gly2237=)
dbSNP
5g.112843155A=CA1573471880APCc.7615A= (p.Arg2539=)
c.*7567A= (n.*7567A=)
c.7507A= (p.Arg2503=)
c.7561A= (p.Arg2521=)
c.231-13494A=
c.7591A= (p.Arg2531=)
c.7486A= (p.Arg2496=)
c.7477A= (p.Arg2493=)
c.7438A= (p.Arg2480=)
c.7384A= (p.Arg2462=)
c.7288A= (p.Arg2430=)
c.7258A= (p.Arg2420=)
c.7183A= (p.Arg2395=)
c.7081A= (p.Arg2361=)
c.6712A= (p.Arg2238=)
5g.112843155A>CCA048437APCc.7615A>C (p.Arg2539=)
c.*7567A>C (n.*7567A>C)
c.7507A>C (p.Arg2503=)
c.7561A>C (p.Arg2521=)
c.231-13494A>C
c.7591A>C (p.Arg2531=)
c.7486A>C (p.Arg2496=)
c.7477A>C (p.Arg2493=)
c.7438A>C (p.Arg2480=)
c.7384A>C (p.Arg2462=)
c.7288A>C (p.Arg2430=)
c.7258A>C (p.Arg2420=)
c.7183A>C (p.Arg2395=)
c.7081A>C (p.Arg2361=)
c.6712A>C (p.Arg2238=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112843155A>GCA16037765APCc.7615A>G (p.Arg2539Gly)
c.*7567A>G (n.*7567A>G)
c.7507A>G (p.Arg2503Gly)
c.7561A>G (p.Arg2521Gly)
c.231-13494A>G
c.7591A>G (p.Arg2531Gly)
c.7486A>G (p.Arg2496Gly)
c.7477A>G (p.Arg2493Gly)
c.7438A>G (p.Arg2480Gly)
c.7384A>G (p.Arg2462Gly)
c.7288A>G (p.Arg2430Gly)
c.7258A>G (p.Arg2420Gly)
c.7183A>G (p.Arg2395Gly)
c.7081A>G (p.Arg2361Gly)
c.6712A>G (p.Arg2238Gly)
ClinVar dbSNP
5g.112843155A>TCA16037766APCc.7615A>T (p.Arg2539Ter)
c.*7567A>T (n.*7567A>T)
c.7507A>T (p.Arg2503Ter)
c.7561A>T (p.Arg2521Ter)
c.231-13494A>T
c.7591A>T (p.Arg2531Ter)
c.7486A>T (p.Arg2496Ter)
c.7477A>T (p.Arg2493Ter)
c.7438A>T (p.Arg2480Ter)
c.7384A>T (p.Arg2462Ter)
c.7288A>T (p.Arg2430Ter)
c.7258A>T (p.Arg2420Ter)
c.7183A>T (p.Arg2395Ter)
c.7081A>T (p.Arg2361Ter)
c.6712A>T (p.Arg2238Ter)
dbSNP
5g.112843156G>ACA16037767APCc.7616G>A (p.Arg2539Lys)
c.*7568G>A (n.*7568G>A)
c.7508G>A (p.Arg2503Lys)
c.7562G>A (p.Arg2521Lys)
c.231-13493G>A
c.7592G>A (p.Arg2531Lys)
c.7487G>A (p.Arg2496Lys)
c.7478G>A (p.Arg2493Lys)
c.7439G>A (p.Arg2480Lys)
c.7385G>A (p.Arg2462Lys)
c.7289G>A (p.Arg2430Lys)
c.7259G>A (p.Arg2420Lys)
c.7184G>A (p.Arg2395Lys)
c.7082G>A (p.Arg2361Lys)
c.6713G>A (p.Arg2238Lys)
dbSNP
5g.112843156G>CCA16037768APCc.7616G>C (p.Arg2539Thr)
c.*7568G>C (n.*7568G>C)
c.7508G>C (p.Arg2503Thr)
c.7562G>C (p.Arg2521Thr)
c.231-13493G>C
c.7592G>C (p.Arg2531Thr)
c.7487G>C (p.Arg2496Thr)
c.7478G>C (p.Arg2493Thr)
c.7439G>C (p.Arg2480Thr)
c.7385G>C (p.Arg2462Thr)
c.7289G>C (p.Arg2430Thr)
c.7259G>C (p.Arg2420Thr)
c.7184G>C (p.Arg2395Thr)
c.7082G>C (p.Arg2361Thr)
c.6713G>C (p.Arg2238Thr)
dbSNP
5g.112843156G>TCA16037769APCc.7616G>T (p.Arg2539Ile)
c.*7568G>T (n.*7568G>T)
c.7508G>T (p.Arg2503Ile)
c.7562G>T (p.Arg2521Ile)
c.231-13493G>T
c.7592G>T (p.Arg2531Ile)
c.7487G>T (p.Arg2496Ile)
c.7478G>T (p.Arg2493Ile)
c.7439G>T (p.Arg2480Ile)
c.7385G>T (p.Arg2462Ile)
c.7289G>T (p.Arg2430Ile)
c.7259G>T (p.Arg2420Ile)
c.7184G>T (p.Arg2395Ile)
c.7082G>T (p.Arg2361Ile)
c.6713G>T (p.Arg2238Ile)
ClinVar gnomAD v4
5g.112843157A>CCA16037770APCc.7617A>C (p.Arg2539Ser)
c.*7569A>C (n.*7569A>C)
c.7509A>C (p.Arg2503Ser)
c.7563A>C (p.Arg2521Ser)
c.231-13492A>C
c.7593A>C (p.Arg2531Ser)
c.7488A>C (p.Arg2496Ser)
c.7479A>C (p.Arg2493Ser)
c.7440A>C (p.Arg2480Ser)
c.7386A>C (p.Arg2462Ser)
c.7290A>C (p.Arg2430Ser)
c.7260A>C (p.Arg2420Ser)
c.7185A>C (p.Arg2395Ser)
c.7083A>C (p.Arg2361Ser)
c.6714A>C (p.Arg2238Ser)
ClinVar
5g.112843157A>GCA446210896APCc.7617A>G (p.Arg2539=)
c.*7569A>G (n.*7569A>G)
c.7509A>G (p.Arg2503=)
c.7563A>G (p.Arg2521=)
c.231-13492A>G
c.7593A>G (p.Arg2531=)
c.7488A>G (p.Arg2496=)
c.7479A>G (p.Arg2493=)
c.7440A>G (p.Arg2480=)
c.7386A>G (p.Arg2462=)
c.7290A>G (p.Arg2430=)
c.7260A>G (p.Arg2420=)
c.7185A>G (p.Arg2395=)
c.7083A>G (p.Arg2361=)
c.6714A>G (p.Arg2238=)
ClinVar
5g.112843157A>TCA16037771APCc.7617A>T (p.Arg2539Ser)
c.*7569A>T (n.*7569A>T)
c.7509A>T (p.Arg2503Ser)
c.7563A>T (p.Arg2521Ser)
c.231-13492A>T
c.7593A>T (p.Arg2531Ser)
c.7488A>T (p.Arg2496Ser)
c.7479A>T (p.Arg2493Ser)
c.7440A>T (p.Arg2480Ser)
c.7386A>T (p.Arg2462Ser)
c.7290A>T (p.Arg2430Ser)
c.7260A>T (p.Arg2420Ser)
c.7185A>T (p.Arg2395Ser)
c.7083A>T (p.Arg2361Ser)
c.6714A>T (p.Arg2238Ser)
5g.112843158C>ACA048449APCc.7618C>A (p.Pro2540Thr)
c.*7570C>A (n.*7570C>A)
c.7510C>A (p.Pro2504Thr)
c.7564C>A (p.Pro2522Thr)
c.231-13491C>A
c.7594C>A (p.Pro2532Thr)
c.7489C>A (p.Pro2497Thr)
c.7480C>A (p.Pro2494Thr)
c.7441C>A (p.Pro2481Thr)
c.7387C>A (p.Pro2463Thr)
c.7291C>A (p.Pro2431Thr)
c.7261C>A (p.Pro2421Thr)
c.7186C>A (p.Pro2396Thr)
c.7084C>A (p.Pro2362Thr)
c.6715C>A (p.Pro2239Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843158C=CA1573471892APCc.7618C= (p.Pro2540=)
c.*7570C= (n.*7570C=)
c.7510C= (p.Pro2504=)
c.7564C= (p.Pro2522=)
c.231-13491C=
c.7594C= (p.Pro2532=)
c.7489C= (p.Pro2497=)
c.7480C= (p.Pro2494=)
c.7441C= (p.Pro2481=)
c.7387C= (p.Pro2463=)
c.7291C= (p.Pro2431=)
c.7261C= (p.Pro2421=)
c.7186C= (p.Pro2396=)
c.7084C= (p.Pro2362=)
c.6715C= (p.Pro2239=)
5g.112843158C>GCA16037772APCc.7618C>G (p.Pro2540Ala)
c.*7570C>G (n.*7570C>G)
c.7510C>G (p.Pro2504Ala)
c.7564C>G (p.Pro2522Ala)
c.231-13491C>G
c.7594C>G (p.Pro2532Ala)
c.7489C>G (p.Pro2497Ala)
c.7480C>G (p.Pro2494Ala)
c.7441C>G (p.Pro2481Ala)
c.7387C>G (p.Pro2463Ala)
c.7291C>G (p.Pro2431Ala)
c.7261C>G (p.Pro2421Ala)
c.7186C>G (p.Pro2396Ala)
c.7084C>G (p.Pro2362Ala)
c.6715C>G (p.Pro2239Ala)
ClinVar dbSNP
5g.112843158C>TCA16037773APCc.7618C>T (p.Pro2540Ser)
c.*7570C>T (n.*7570C>T)
c.7510C>T (p.Pro2504Ser)
c.7564C>T (p.Pro2522Ser)
c.231-13491C>T
c.7594C>T (p.Pro2532Ser)
c.7489C>T (p.Pro2497Ser)
c.7480C>T (p.Pro2494Ser)
c.7441C>T (p.Pro2481Ser)
c.7387C>T (p.Pro2463Ser)
c.7291C>T (p.Pro2431Ser)
c.7261C>T (p.Pro2421Ser)
c.7186C>T (p.Pro2396Ser)
c.7084C>T (p.Pro2362Ser)
c.6715C>T (p.Pro2239Ser)
dbSNP
5g.112843159C>ACA048460APCc.7619C>A (p.Pro2540Gln)
c.*7571C>A (n.*7571C>A)
c.7511C>A (p.Pro2504Gln)
c.7565C>A (p.Pro2522Gln)
c.231-13490C>A
c.7595C>A (p.Pro2532Gln)
c.7490C>A (p.Pro2497Gln)
c.7481C>A (p.Pro2494Gln)
c.7442C>A (p.Pro2481Gln)
c.7388C>A (p.Pro2463Gln)
c.7292C>A (p.Pro2431Gln)
c.7262C>A (p.Pro2421Gln)
c.7187C>A (p.Pro2396Gln)
c.7085C>A (p.Pro2362Gln)
c.6716C>A (p.Pro2239Gln)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.112843159C=CA1573471907APCc.7619C= (p.Pro2540=)
c.*7571C= (n.*7571C=)
c.7511C= (p.Pro2504=)
c.7565C= (p.Pro2522=)
c.231-13490C=
c.7595C= (p.Pro2532=)
c.7490C= (p.Pro2497=)
c.7481C= (p.Pro2494=)
c.7442C= (p.Pro2481=)
c.7388C= (p.Pro2463=)
c.7292C= (p.Pro2431=)
c.7262C= (p.Pro2421=)
c.7187C= (p.Pro2396=)
c.7085C= (p.Pro2362=)
c.6716C= (p.Pro2239=)
5g.112843159C>GCA16037774APCc.7619C>G (p.Pro2540Arg)
c.*7571C>G (n.*7571C>G)
c.7511C>G (p.Pro2504Arg)
c.7565C>G (p.Pro2522Arg)
c.231-13490C>G
c.7595C>G (p.Pro2532Arg)
c.7490C>G (p.Pro2497Arg)
c.7481C>G (p.Pro2494Arg)
c.7442C>G (p.Pro2481Arg)
c.7388C>G (p.Pro2463Arg)
c.7292C>G (p.Pro2431Arg)
c.7262C>G (p.Pro2421Arg)
c.7187C>G (p.Pro2396Arg)
c.7085C>G (p.Pro2362Arg)
c.6716C>G (p.Pro2239Arg)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112843159C>TCA16037775APCc.7619C>T (p.Pro2540Leu)
c.*7571C>T (n.*7571C>T)
c.7511C>T (p.Pro2504Leu)
c.7565C>T (p.Pro2522Leu)
c.231-13490C>T
c.7595C>T (p.Pro2532Leu)
c.7490C>T (p.Pro2497Leu)
c.7481C>T (p.Pro2494Leu)
c.7442C>T (p.Pro2481Leu)
c.7388C>T (p.Pro2463Leu)
c.7292C>T (p.Pro2431Leu)
c.7262C>T (p.Pro2421Leu)
c.7187C>T (p.Pro2396Leu)
c.7085C>T (p.Pro2362Leu)
c.6716C>T (p.Pro2239Leu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112843160A>CCA446210898APCc.7620A>C (p.Pro2540=)
c.*7572A>C (n.*7572A>C)
c.7512A>C (p.Pro2504=)
c.7566A>C (p.Pro2522=)
c.231-13489A>C
c.7596A>C (p.Pro2532=)
c.7491A>C (p.Pro2497=)
c.7482A>C (p.Pro2494=)
c.7443A>C (p.Pro2481=)
c.7389A>C (p.Pro2463=)
c.7293A>C (p.Pro2431=)
c.7263A>C (p.Pro2421=)
c.7188A>C (p.Pro2396=)
c.7086A>C (p.Pro2362=)
c.6717A>C (p.Pro2239=)
5g.112843160A>GCA446210899APCc.7620A>G (p.Pro2540=)
c.*7572A>G (n.*7572A>G)
c.7512A>G (p.Pro2504=)
c.7566A>G (p.Pro2522=)
c.231-13489A>G
c.7596A>G (p.Pro2532=)
c.7491A>G (p.Pro2497=)
c.7482A>G (p.Pro2494=)
c.7443A>G (p.Pro2481=)
c.7389A>G (p.Pro2463=)
c.7293A>G (p.Pro2431=)
c.7263A>G (p.Pro2421=)
c.7188A>G (p.Pro2396=)
c.7086A>G (p.Pro2362=)
c.6717A>G (p.Pro2239=)
5g.112843160A>TCA446210897APCc.7620A>T (p.Pro2540=)
c.*7572A>T (n.*7572A>T)
c.7512A>T (p.Pro2504=)
c.7566A>T (p.Pro2522=)
c.231-13489A>T
c.7596A>T (p.Pro2532=)
c.7491A>T (p.Pro2497=)
c.7482A>T (p.Pro2494=)
c.7443A>T (p.Pro2481=)
c.7389A>T (p.Pro2463=)
c.7293A>T (p.Pro2431=)
c.7263A>T (p.Pro2421=)
c.7188A>T (p.Pro2396=)
c.7086A>T (p.Pro2362=)
c.6717A>T (p.Pro2239=)
5g.112843161G>ACA16037776APCc.7621G>A (p.Ala2541Thr)
c.*7573G>A (n.*7573G>A)
c.7513G>A (p.Ala2505Thr)
c.7567G>A (p.Ala2523Thr)
c.231-13488G>A
c.7597G>A (p.Ala2533Thr)
c.7492G>A (p.Ala2498Thr)
c.7483G>A (p.Ala2495Thr)
c.7444G>A (p.Ala2482Thr)
c.7390G>A (p.Ala2464Thr)
c.7294G>A (p.Ala2432Thr)
c.7264G>A (p.Ala2422Thr)
c.7189G>A (p.Ala2397Thr)
c.7087G>A (p.Ala2363Thr)
c.6718G>A (p.Ala2240Thr)
5g.112843161G>CCA16037777APCc.7621G>C (p.Ala2541Pro)
c.*7573G>C (n.*7573G>C)
c.7513G>C (p.Ala2505Pro)
c.7567G>C (p.Ala2523Pro)
c.231-13488G>C
c.7597G>C (p.Ala2533Pro)
c.7492G>C (p.Ala2498Pro)
c.7483G>C (p.Ala2495Pro)
c.7444G>C (p.Ala2482Pro)
c.7390G>C (p.Ala2464Pro)
c.7294G>C (p.Ala2432Pro)
c.7264G>C (p.Ala2422Pro)
c.7189G>C (p.Ala2397Pro)
c.7087G>C (p.Ala2363Pro)
c.6718G>C (p.Ala2240Pro)
5g.112843161G=CA1573471920APCc.7621G= (p.Ala2541=)
c.*7573G= (n.*7573G=)
c.7513G= (p.Ala2505=)
c.7567G= (p.Ala2523=)
c.231-13488G=
c.7597G= (p.Ala2533=)
c.7492G= (p.Ala2498=)
c.7483G= (p.Ala2495=)
c.7444G= (p.Ala2482=)
c.7390G= (p.Ala2464=)
c.7294G= (p.Ala2432=)
c.7264G= (p.Ala2422=)
c.7189G= (p.Ala2397=)
c.7087G= (p.Ala2363=)
c.6718G= (p.Ala2240=)
5g.112843161G>TCA16037778APCc.7621G>T (p.Ala2541Ser)
c.*7573G>T (n.*7573G>T)
c.7513G>T (p.Ala2505Ser)
c.7567G>T (p.Ala2523Ser)
c.231-13488G>T
c.7597G>T (p.Ala2533Ser)
c.7492G>T (p.Ala2498Ser)
c.7483G>T (p.Ala2495Ser)
c.7444G>T (p.Ala2482Ser)
c.7390G>T (p.Ala2464Ser)
c.7294G>T (p.Ala2432Ser)
c.7264G>T (p.Ala2422Ser)
c.7189G>T (p.Ala2397Ser)
c.7087G>T (p.Ala2363Ser)
c.6718G>T (p.Ala2240Ser)
dbSNP
5g.112843162C>ACA16037779APCc.7622C>A (p.Ala2541Glu)
c.*7574C>A (n.*7574C>A)
c.7514C>A (p.Ala2505Glu)
c.7568C>A (p.Ala2523Glu)
c.231-13487C>A
c.7598C>A (p.Ala2533Glu)
c.7493C>A (p.Ala2498Glu)
c.7484C>A (p.Ala2495Glu)
c.7445C>A (p.Ala2482Glu)
c.7391C>A (p.Ala2464Glu)
c.7295C>A (p.Ala2432Glu)
c.7265C>A (p.Ala2422Glu)
c.7190C>A (p.Ala2397Glu)
c.7088C>A (p.Ala2363Glu)
c.6719C>A (p.Ala2240Glu)
dbSNP
5g.112843162C>GCA16037780APCc.7622C>G (p.Ala2541Gly)
c.*7574C>G (n.*7574C>G)
c.7514C>G (p.Ala2505Gly)
c.7568C>G (p.Ala2523Gly)
c.231-13487C>G
c.7598C>G (p.Ala2533Gly)
c.7493C>G (p.Ala2498Gly)
c.7484C>G (p.Ala2495Gly)
c.7445C>G (p.Ala2482Gly)
c.7391C>G (p.Ala2464Gly)
c.7295C>G (p.Ala2432Gly)
c.7265C>G (p.Ala2422Gly)
c.7190C>G (p.Ala2397Gly)
c.7088C>G (p.Ala2363Gly)
c.6719C>G (p.Ala2240Gly)
ClinVar dbSNP
5g.112843162C>TCA16037781APCc.7622C>T (p.Ala2541Val)
c.*7574C>T (n.*7574C>T)
c.7514C>T (p.Ala2505Val)
c.7568C>T (p.Ala2523Val)
c.231-13487C>T
c.7598C>T (p.Ala2533Val)
c.7493C>T (p.Ala2498Val)
c.7484C>T (p.Ala2495Val)
c.7445C>T (p.Ala2482Val)
c.7391C>T (p.Ala2464Val)
c.7295C>T (p.Ala2432Val)
c.7265C>T (p.Ala2422Val)
c.7190C>T (p.Ala2397Val)
c.7088C>T (p.Ala2363Val)
c.6719C>T (p.Ala2240Val)
dbSNP
5g.112843163A>CCA446210902APCc.7623A>C (p.Ala2541=)
c.*7575A>C (n.*7575A>C)
c.7515A>C (p.Ala2505=)
c.7569A>C (p.Ala2523=)
c.231-13486A>C
c.7599A>C (p.Ala2533=)
c.7494A>C (p.Ala2498=)
c.7485A>C (p.Ala2495=)
c.7446A>C (p.Ala2482=)
c.7392A>C (p.Ala2464=)
c.7296A>C (p.Ala2432=)
c.7266A>C (p.Ala2422=)
c.7191A>C (p.Ala2397=)
c.7089A>C (p.Ala2363=)
c.6720A>C (p.Ala2240=)
5g.112843163A>GCA446210900APCc.7623A>G (p.Ala2541=)
c.*7575A>G (n.*7575A>G)
c.7515A>G (p.Ala2505=)
c.7569A>G (p.Ala2523=)
c.231-13486A>G
c.7599A>G (p.Ala2533=)
c.7494A>G (p.Ala2498=)
c.7485A>G (p.Ala2495=)
c.7446A>G (p.Ala2482=)
c.7392A>G (p.Ala2464=)
c.7296A>G (p.Ala2432=)
c.7266A>G (p.Ala2422=)
c.7191A>G (p.Ala2397=)
c.7089A>G (p.Ala2363=)
c.6720A>G (p.Ala2240=)
5g.112843163A>TCA446210901APCc.7623A>T (p.Ala2541=)
c.*7575A>T (n.*7575A>T)
c.7515A>T (p.Ala2505=)
c.7569A>T (p.Ala2523=)
c.231-13486A>T
c.7599A>T (p.Ala2533=)
c.7494A>T (p.Ala2498=)
c.7485A>T (p.Ala2495=)
c.7446A>T (p.Ala2482=)
c.7392A>T (p.Ala2464=)
c.7296A>T (p.Ala2432=)
c.7266A>T (p.Ala2422=)
c.7191A>T (p.Ala2397=)
c.7089A>T (p.Ala2363=)
c.6720A>T (p.Ala2240=)
5g.112843164A=CA1573471943APCc.7624A= (p.Lys2542=)
c.*7576A= (n.*7576A=)
c.7516A= (p.Lys2506=)
c.7570A= (p.Lys2524=)
c.231-13485A=
c.7600A= (p.Lys2534=)
c.7495A= (p.Lys2499=)
c.7486A= (p.Lys2496=)
c.7447A= (p.Lys2483=)
c.7393A= (p.Lys2465=)
c.7297A= (p.Lys2433=)
c.7267A= (p.Lys2423=)
c.7192A= (p.Lys2398=)
c.7090A= (p.Lys2364=)
c.6721A= (p.Lys2241=)
5g.112843164A>CCA16037782APCc.7624A>C (p.Lys2542Gln)
c.*7576A>C (n.*7576A>C)
c.7516A>C (p.Lys2506Gln)
c.7570A>C (p.Lys2524Gln)
c.231-13485A>C
c.7600A>C (p.Lys2534Gln)
c.7495A>C (p.Lys2499Gln)
c.7486A>C (p.Lys2496Gln)
c.7447A>C (p.Lys2483Gln)
c.7393A>C (p.Lys2465Gln)
c.7297A>C (p.Lys2433Gln)
c.7267A>C (p.Lys2423Gln)
c.7192A>C (p.Lys2398Gln)
c.7090A>C (p.Lys2364Gln)
c.6721A>C (p.Lys2241Gln)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112843164A>GCA013850APCc.7624A>G (p.Lys2542Glu)
c.*7576A>G (n.*7576A>G)
c.7516A>G (p.Lys2506Glu)
c.7570A>G (p.Lys2524Glu)
c.231-13485A>G
c.7600A>G (p.Lys2534Glu)
c.7495A>G (p.Lys2499Glu)
c.7486A>G (p.Lys2496Glu)
c.7447A>G (p.Lys2483Glu)
c.7393A>G (p.Lys2465Glu)
c.7297A>G (p.Lys2433Glu)
c.7267A>G (p.Lys2423Glu)
c.7192A>G (p.Lys2398Glu)
c.7090A>G (p.Lys2364Glu)
c.6721A>G (p.Lys2241Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843164A>TCA16037783APCc.7624A>T (p.Lys2542Ter)
c.*7576A>T (n.*7576A>T)
c.7516A>T (p.Lys2506Ter)
c.7570A>T (p.Lys2524Ter)
c.231-13485A>T
c.7600A>T (p.Lys2534Ter)
c.7495A>T (p.Lys2499Ter)
c.7486A>T (p.Lys2496Ter)
c.7447A>T (p.Lys2483Ter)
c.7393A>T (p.Lys2465Ter)
c.7297A>T (p.Lys2433Ter)
c.7267A>T (p.Lys2423Ter)
c.7192A>T (p.Lys2398Ter)
c.7090A>T (p.Lys2364Ter)
c.6721A>T (p.Lys2241Ter)
ClinVar dbSNP
5g.112843165A>CCA16037784APCc.7625A>C (p.Lys2542Thr)
c.*7577A>C (n.*7577A>C)
c.7517A>C (p.Lys2506Thr)
c.7571A>C (p.Lys2524Thr)
c.231-13484A>C
c.7601A>C (p.Lys2534Thr)
c.7496A>C (p.Lys2499Thr)
c.7487A>C (p.Lys2496Thr)
c.7448A>C (p.Lys2483Thr)
c.7394A>C (p.Lys2465Thr)
c.7298A>C (p.Lys2433Thr)
c.7268A>C (p.Lys2423Thr)
c.7193A>C (p.Lys2398Thr)
c.7091A>C (p.Lys2364Thr)
c.6722A>C (p.Lys2241Thr)
dbSNP
5g.112843165A>GCA16037785APCc.7625A>G (p.Lys2542Arg)
c.*7577A>G (n.*7577A>G)
c.7517A>G (p.Lys2506Arg)
c.7571A>G (p.Lys2524Arg)
c.231-13484A>G
c.7601A>G (p.Lys2534Arg)
c.7496A>G (p.Lys2499Arg)
c.7487A>G (p.Lys2496Arg)
c.7448A>G (p.Lys2483Arg)
c.7394A>G (p.Lys2465Arg)
c.7298A>G (p.Lys2433Arg)
c.7268A>G (p.Lys2423Arg)
c.7193A>G (p.Lys2398Arg)
c.7091A>G (p.Lys2364Arg)
c.6722A>G (p.Lys2241Arg)
dbSNP
5g.112843165A>TCA16037786APCc.7625A>T (p.Lys2542Met)
c.*7577A>T (n.*7577A>T)
c.7517A>T (p.Lys2506Met)
c.7571A>T (p.Lys2524Met)
c.231-13484A>T
c.7601A>T (p.Lys2534Met)
c.7496A>T (p.Lys2499Met)
c.7487A>T (p.Lys2496Met)
c.7448A>T (p.Lys2483Met)
c.7394A>T (p.Lys2465Met)
c.7298A>T (p.Lys2433Met)
c.7268A>T (p.Lys2423Met)
c.7193A>T (p.Lys2398Met)
c.7091A>T (p.Lys2364Met)
c.6722A>T (p.Lys2241Met)
dbSNP
5g.112843166G>ACA446210903APCc.7626G>A (p.Lys2542=)
c.*7578G>A (n.*7578G>A)
c.7518G>A (p.Lys2506=)
c.7572G>A (p.Lys2524=)
c.231-13483G>A
c.7602G>A (p.Lys2534=)
c.7497G>A (p.Lys2499=)
c.7488G>A (p.Lys2496=)
c.7449G>A (p.Lys2483=)
c.7395G>A (p.Lys2465=)
c.7299G>A (p.Lys2433=)
c.7269G>A (p.Lys2423=)
c.7194G>A (p.Lys2398=)
c.7092G>A (p.Lys2364=)
c.6723G>A (p.Lys2241=)
ClinVar dbSNP
5g.112843166G>CCA16037787APCc.7626G>C (p.Lys2542Asn)
c.*7578G>C (n.*7578G>C)
c.7518G>C (p.Lys2506Asn)
c.7572G>C (p.Lys2524Asn)
c.231-13483G>C
c.7602G>C (p.Lys2534Asn)
c.7497G>C (p.Lys2499Asn)
c.7488G>C (p.Lys2496Asn)
c.7449G>C (p.Lys2483Asn)
c.7395G>C (p.Lys2465Asn)
c.7299G>C (p.Lys2433Asn)
c.7269G>C (p.Lys2423Asn)
c.7194G>C (p.Lys2398Asn)
c.7092G>C (p.Lys2364Asn)
c.6723G>C (p.Lys2241Asn)
dbSNP
5g.112843166G>TCA16037788APCc.7626G>T (p.Lys2542Asn)
c.*7578G>T (n.*7578G>T)
c.7518G>T (p.Lys2506Asn)
c.7572G>T (p.Lys2524Asn)
c.231-13483G>T
c.7602G>T (p.Lys2534Asn)
c.7497G>T (p.Lys2499Asn)
c.7488G>T (p.Lys2496Asn)
c.7449G>T (p.Lys2483Asn)
c.7395G>T (p.Lys2465Asn)
c.7299G>T (p.Lys2433Asn)
c.7269G>T (p.Lys2423Asn)
c.7194G>T (p.Lys2398Asn)
c.7092G>T (p.Lys2364Asn)
c.6723G>T (p.Lys2241Asn)
dbSNP
5g.112843167C>ACA16037789APCc.7627C>A (p.Arg2543Ser)
c.*7579C>A (n.*7579C>A)
c.7519C>A (p.Arg2507Ser)
c.7573C>A (p.Arg2525Ser)
c.231-13482C>A
c.7603C>A (p.Arg2535Ser)
c.7498C>A (p.Arg2500Ser)
c.7489C>A (p.Arg2497Ser)
c.7450C>A (p.Arg2484Ser)
c.7396C>A (p.Arg2466Ser)
c.7300C>A (p.Arg2434Ser)
c.7270C>A (p.Arg2424Ser)
c.7195C>A (p.Arg2399Ser)
c.7093C>A (p.Arg2365Ser)
c.6724C>A (p.Arg2242Ser)
ClinVar dbSNP gnomAD v4
5g.112843167C=CA1573471969APCc.7627C= (p.Arg2543=)
c.*7579C= (n.*7579C=)
c.7519C= (p.Arg2507=)
c.7573C= (p.Arg2525=)
c.231-13482C=
c.7603C= (p.Arg2535=)
c.7498C= (p.Arg2500=)
c.7489C= (p.Arg2497=)
c.7450C= (p.Arg2484=)
c.7396C= (p.Arg2466=)
c.7300C= (p.Arg2434=)
c.7270C= (p.Arg2424=)
c.7195C= (p.Arg2399=)
c.7093C= (p.Arg2365=)
c.6724C= (p.Arg2242=)
5g.112843167C>GCA16037790APCc.7627C>G (p.Arg2543Gly)
c.*7579C>G (n.*7579C>G)
c.7519C>G (p.Arg2507Gly)
c.7573C>G (p.Arg2525Gly)
c.231-13482C>G
c.7603C>G (p.Arg2535Gly)
c.7498C>G (p.Arg2500Gly)
c.7489C>G (p.Arg2497Gly)
c.7450C>G (p.Arg2484Gly)
c.7396C>G (p.Arg2466Gly)
c.7300C>G (p.Arg2434Gly)
c.7270C>G (p.Arg2424Gly)
c.7195C>G (p.Arg2399Gly)
c.7093C>G (p.Arg2365Gly)
c.6724C>G (p.Arg2242Gly)
dbSNP
5g.112843167C>TCA048504APCc.7627C>T (p.Arg2543Cys)
c.*7579C>T (n.*7579C>T)
c.7519C>T (p.Arg2507Cys)
c.7573C>T (p.Arg2525Cys)
c.231-13482C>T
c.7603C>T (p.Arg2535Cys)
c.7498C>T (p.Arg2500Cys)
c.7489C>T (p.Arg2497Cys)
c.7450C>T (p.Arg2484Cys)
c.7396C>T (p.Arg2466Cys)
c.7300C>T (p.Arg2434Cys)
c.7270C>T (p.Arg2424Cys)
c.7195C>T (p.Arg2399Cys)
c.7093C>T (p.Arg2365Cys)
c.6724C>T (p.Arg2242Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.112843168G>ACA013862APCc.7628G>A (p.Arg2543His)
c.*7580G>A (n.*7580G>A)
c.7520G>A (p.Arg2507His)
c.7574G>A (p.Arg2525His)
c.231-13481G>A
c.7604G>A (p.Arg2535His)
c.7499G>A (p.Arg2500His)
c.7490G>A (p.Arg2497His)
c.7451G>A (p.Arg2484His)
c.7397G>A (p.Arg2466His)
c.7301G>A (p.Arg2434His)
c.7271G>A (p.Arg2424His)
c.7196G>A (p.Arg2399His)
c.7094G>A (p.Arg2365His)
c.6725G>A (p.Arg2242His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843168G>CCA16037791APCc.7628G>C (p.Arg2543Pro)
c.*7580G>C (n.*7580G>C)
c.7520G>C (p.Arg2507Pro)
c.7574G>C (p.Arg2525Pro)
c.231-13481G>C
c.7604G>C (p.Arg2535Pro)
c.7499G>C (p.Arg2500Pro)
c.7490G>C (p.Arg2497Pro)
c.7451G>C (p.Arg2484Pro)
c.7397G>C (p.Arg2466Pro)
c.7301G>C (p.Arg2434Pro)
c.7271G>C (p.Arg2424Pro)
c.7196G>C (p.Arg2399Pro)
c.7094G>C (p.Arg2365Pro)
c.6725G>C (p.Arg2242Pro)
dbSNP
5g.112843168G=CA1573471977APCc.7628G= (p.Arg2543=)
c.*7580G= (n.*7580G=)
c.7520G= (p.Arg2507=)
c.7574G= (p.Arg2525=)
c.231-13481G=
c.7604G= (p.Arg2535=)
c.7499G= (p.Arg2500=)
c.7490G= (p.Arg2497=)
c.7451G= (p.Arg2484=)
c.7397G= (p.Arg2466=)
c.7301G= (p.Arg2434=)
c.7271G= (p.Arg2424=)
c.7196G= (p.Arg2399=)
c.7094G= (p.Arg2365=)
c.6725G= (p.Arg2242=)
5g.112843168G>TCA16037792APCc.7628G>T (p.Arg2543Leu)
c.*7580G>T (n.*7580G>T)
c.7520G>T (p.Arg2507Leu)
c.7574G>T (p.Arg2525Leu)
c.231-13481G>T
c.7604G>T (p.Arg2535Leu)
c.7499G>T (p.Arg2500Leu)
c.7490G>T (p.Arg2497Leu)
c.7451G>T (p.Arg2484Leu)
c.7397G>T (p.Arg2466Leu)
c.7301G>T (p.Arg2434Leu)
c.7271G>T (p.Arg2424Leu)
c.7196G>T (p.Arg2399Leu)
c.7094G>T (p.Arg2365Leu)
c.6725G>T (p.Arg2242Leu)
gnomAD v4
5g.112843169C>ACA048534APCc.7629C>A (p.Arg2543=)
c.*7581C>A (n.*7581C>A)
c.7521C>A (p.Arg2507=)
c.7575C>A (p.Arg2525=)
c.231-13480C>A
c.7605C>A (p.Arg2535=)
c.7500C>A (p.Arg2500=)
c.7491C>A (p.Arg2497=)
c.7452C>A (p.Arg2484=)
c.7398C>A (p.Arg2466=)
c.7302C>A (p.Arg2434=)
c.7272C>A (p.Arg2424=)
c.7197C>A (p.Arg2399=)
c.7095C>A (p.Arg2365=)
c.6726C>A (p.Arg2242=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112843169C=CA1573472001APCc.7629C= (p.Arg2543=)
c.*7581C= (n.*7581C=)
c.7521C= (p.Arg2507=)
c.7575C= (p.Arg2525=)
c.231-13480C=
c.7605C= (p.Arg2535=)
c.7500C= (p.Arg2500=)
c.7491C= (p.Arg2497=)
c.7452C= (p.Arg2484=)
c.7398C= (p.Arg2466=)
c.7302C= (p.Arg2434=)
c.7272C= (p.Arg2424=)
c.7197C= (p.Arg2399=)
c.7095C= (p.Arg2365=)
c.6726C= (p.Arg2242=)
5g.112843169C>GCA446210904APCc.7629C>G (p.Arg2543=)
c.*7581C>G (n.*7581C>G)
c.7521C>G (p.Arg2507=)
c.7575C>G (p.Arg2525=)
c.231-13480C>G
c.7605C>G (p.Arg2535=)
c.7500C>G (p.Arg2500=)
c.7491C>G (p.Arg2497=)
c.7452C>G (p.Arg2484=)
c.7398C>G (p.Arg2466=)
c.7302C>G (p.Arg2434=)
c.7272C>G (p.Arg2424=)
c.7197C>G (p.Arg2399=)
c.7095C>G (p.Arg2365=)
c.6726C>G (p.Arg2242=)
dbSNP
5g.112843169C>TCA446210905APCc.7629C>T (p.Arg2543=)
c.*7581C>T (n.*7581C>T)
c.7521C>T (p.Arg2507=)
c.7575C>T (p.Arg2525=)
c.231-13480C>T
c.7605C>T (p.Arg2535=)
c.7500C>T (p.Arg2500=)
c.7491C>T (p.Arg2497=)
c.7452C>T (p.Arg2484=)
c.7398C>T (p.Arg2466=)
c.7302C>T (p.Arg2434=)
c.7272C>T (p.Arg2424=)
c.7197C>T (p.Arg2399=)
c.7095C>T (p.Arg2365=)
c.6726C>T (p.Arg2242=)
ClinVar dbSNP
5g.112843170C>ACA16037793APCc.7630C>A (p.His2544Asn)
c.*7582C>A (n.*7582C>A)
c.7522C>A (p.His2508Asn)
c.7576C>A (p.His2526Asn)
c.231-13479C>A
c.7606C>A (p.His2536Asn)
c.7501C>A (p.His2501Asn)
c.7492C>A (p.His2498Asn)
c.7453C>A (p.His2485Asn)
c.7399C>A (p.His2467Asn)
c.7303C>A (p.His2435Asn)
c.7273C>A (p.His2425Asn)
c.7198C>A (p.His2400Asn)
c.7096C>A (p.His2366Asn)
c.6727C>A (p.His2243Asn)
dbSNP
5g.112843170C=CA1573472036APCc.7630C= (p.His2544=)
c.*7582C= (n.*7582C=)
c.7522C= (p.His2508=)
c.7576C= (p.His2526=)
c.231-13479C=
c.7606C= (p.His2536=)
c.7501C= (p.His2501=)
c.7492C= (p.His2498=)
c.7453C= (p.His2485=)
c.7399C= (p.His2467=)
c.7303C= (p.His2435=)
c.7273C= (p.His2425=)
c.7198C= (p.His2400=)
c.7096C= (p.His2366=)
c.6727C= (p.His2243=)
5g.112843170C>GCA16037794APCc.7630C>G (p.His2544Asp)
c.*7582C>G (n.*7582C>G)
c.7522C>G (p.His2508Asp)
c.7576C>G (p.His2526Asp)
c.231-13479C>G
c.7606C>G (p.His2536Asp)
c.7501C>G (p.His2501Asp)
c.7492C>G (p.His2498Asp)
c.7453C>G (p.His2485Asp)
c.7399C>G (p.His2467Asp)
c.7303C>G (p.His2435Asp)
c.7273C>G (p.His2425Asp)
c.7198C>G (p.His2400Asp)
c.7096C>G (p.His2366Asp)
c.6727C>G (p.His2243Asp)
dbSNP
5g.112843170C>TCA16037795APCc.7630C>T (p.His2544Tyr)
c.*7582C>T (n.*7582C>T)
c.7522C>T (p.His2508Tyr)
c.7576C>T (p.His2526Tyr)
c.231-13479C>T
c.7606C>T (p.His2536Tyr)
c.7501C>T (p.His2501Tyr)
c.7492C>T (p.His2498Tyr)
c.7453C>T (p.His2485Tyr)
c.7399C>T (p.His2467Tyr)
c.7303C>T (p.His2435Tyr)
c.7273C>T (p.His2425Tyr)
c.7198C>T (p.His2400Tyr)
c.7096C>T (p.His2366Tyr)
c.6727C>T (p.His2243Tyr)
ClinVar dbSNP gnomAD v4
5g.112843171A=CA1573472096APCc.7631A= (p.His2544=)
c.*7583A= (n.*7583A=)
c.7523A= (p.His2508=)
c.7577A= (p.His2526=)
c.231-13478A=
c.7607A= (p.His2536=)
c.7502A= (p.His2501=)
c.7493A= (p.His2498=)
c.7454A= (p.His2485=)
c.7400A= (p.His2467=)
c.7304A= (p.His2435=)
c.7274A= (p.His2425=)
c.7199A= (p.His2400=)
c.7097A= (p.His2366=)
c.6728A= (p.His2243=)
5g.112843171A>CCA16037796APCc.7631A>C (p.His2544Pro)
c.*7583A>C (n.*7583A>C)
c.7523A>C (p.His2508Pro)
c.7577A>C (p.His2526Pro)
c.231-13478A>C
c.7607A>C (p.His2536Pro)
c.7502A>C (p.His2501Pro)
c.7493A>C (p.His2498Pro)
c.7454A>C (p.His2485Pro)
c.7400A>C (p.His2467Pro)
c.7304A>C (p.His2435Pro)
c.7274A>C (p.His2425Pro)
c.7199A>C (p.His2400Pro)
c.7097A>C (p.His2366Pro)
c.6728A>C (p.His2243Pro)
dbSNP
5g.112843171A>GCA048553APCc.7631A>G (p.His2544Arg)
c.*7583A>G (n.*7583A>G)
c.7523A>G (p.His2508Arg)
c.7577A>G (p.His2526Arg)
c.231-13478A>G
c.7607A>G (p.His2536Arg)
c.7502A>G (p.His2501Arg)
c.7493A>G (p.His2498Arg)
c.7454A>G (p.His2485Arg)
c.7400A>G (p.His2467Arg)
c.7304A>G (p.His2435Arg)
c.7274A>G (p.His2425Arg)
c.7199A>G (p.His2400Arg)
c.7097A>G (p.His2366Arg)
c.6728A>G (p.His2243Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112843171A>TCA16037797APCc.7631A>T (p.His2544Leu)
c.*7583A>T (n.*7583A>T)
c.7523A>T (p.His2508Leu)
c.7577A>T (p.His2526Leu)
c.231-13478A>T
c.7607A>T (p.His2536Leu)
c.7502A>T (p.His2501Leu)
c.7493A>T (p.His2498Leu)
c.7454A>T (p.His2485Leu)
c.7400A>T (p.His2467Leu)
c.7304A>T (p.His2435Leu)
c.7274A>T (p.His2425Leu)
c.7199A>T (p.His2400Leu)
c.7097A>T (p.His2366Leu)
c.6728A>T (p.His2243Leu)
dbSNP
5g.112843172T>ACA16037798APCc.7632T>A (p.His2544Gln)
c.*7584T>A (n.*7584T>A)
c.7524T>A (p.His2508Gln)
c.7578T>A (p.His2526Gln)
c.231-13477T>A
c.7608T>A (p.His2536Gln)
c.7503T>A (p.His2501Gln)
c.7494T>A (p.His2498Gln)
c.7455T>A (p.His2485Gln)
c.7401T>A (p.His2467Gln)
c.7305T>A (p.His2435Gln)
c.7275T>A (p.His2425Gln)
c.7200T>A (p.His2400Gln)
c.7098T>A (p.His2366Gln)
c.6729T>A (p.His2243Gln)
dbSNP
5g.112843172T>CCA013872APCc.7632T>C (p.His2544=)
c.*7584T>C (n.*7584T>C)
c.7524T>C (p.His2508=)
c.7578T>C (p.His2526=)
c.231-13477T>C
c.7608T>C (p.His2536=)
c.7503T>C (p.His2501=)
c.7494T>C (p.His2498=)
c.7455T>C (p.His2485=)
c.7401T>C (p.His2467=)
c.7305T>C (p.His2435=)
c.7275T>C (p.His2425=)
c.7200T>C (p.His2400=)
c.7098T>C (p.His2366=)
c.6729T>C (p.His2243=)
ClinVar dbSNP gnomAD v4
5g.112843172T>GCA16037799APCc.7632T>G (p.His2544Gln)
c.*7584T>G (n.*7584T>G)
c.7524T>G (p.His2508Gln)
c.7578T>G (p.His2526Gln)
c.231-13477T>G
c.7608T>G (p.His2536Gln)
c.7503T>G (p.His2501Gln)
c.7494T>G (p.His2498Gln)
c.7455T>G (p.His2485Gln)
c.7401T>G (p.His2467Gln)
c.7305T>G (p.His2435Gln)
c.7275T>G (p.His2425Gln)
c.7200T>G (p.His2400Gln)
c.7098T>G (p.His2366Gln)
c.6729T>G (p.His2243Gln)
ClinVar gnomAD v4
5g.112843172T=CA1573472119APCc.7632T= (p.His2544=)
c.*7584T= (n.*7584T=)
c.7524T= (p.His2508=)
c.7578T= (p.His2526=)
c.231-13477T=
c.7608T= (p.His2536=)
c.7503T= (p.His2501=)
c.7494T= (p.His2498=)
c.7455T= (p.His2485=)
c.7401T= (p.His2467=)
c.7305T= (p.His2435=)
c.7275T= (p.His2425=)
c.7200T= (p.His2400=)
c.7098T= (p.His2366=)
c.6729T= (p.His2243=)
5g.112843173G>ACA16037800APCc.7633G>A (p.Asp2545Asn)
c.*7585G>A (n.*7585G>A)
c.7525G>A (p.Asp2509Asn)
c.7579G>A (p.Asp2527Asn)
c.231-13476G>A
c.7609G>A (p.Asp2537Asn)
c.7504G>A (p.Asp2502Asn)
c.7495G>A (p.Asp2499Asn)
c.7456G>A (p.Asp2486Asn)
c.7402G>A (p.Asp2468Asn)
c.7306G>A (p.Asp2436Asn)
c.7276G>A (p.Asp2426Asn)
c.7201G>A (p.Asp2401Asn)
c.7099G>A (p.Asp2367Asn)
c.6730G>A (p.Asp2244Asn)
dbSNP gnomAD v4 COSMIC
5g.112843173G>CCA16037801APCc.7633G>C (p.Asp2545His)
c.*7585G>C (n.*7585G>C)
c.7525G>C (p.Asp2509His)
c.7579G>C (p.Asp2527His)
c.231-13476G>C
c.7609G>C (p.Asp2537His)
c.7504G>C (p.Asp2502His)
c.7495G>C (p.Asp2499His)
c.7456G>C (p.Asp2486His)
c.7402G>C (p.Asp2468His)
c.7306G>C (p.Asp2436His)
c.7276G>C (p.Asp2426His)
c.7201G>C (p.Asp2401His)
c.7099G>C (p.Asp2367His)
c.6730G>C (p.Asp2244His)
dbSNP
5g.112843173G>TCA16037802APCc.7633G>T (p.Asp2545Tyr)
c.*7585G>T (n.*7585G>T)
c.7525G>T (p.Asp2509Tyr)
c.7579G>T (p.Asp2527Tyr)
c.231-13476G>T
c.7609G>T (p.Asp2537Tyr)
c.7504G>T (p.Asp2502Tyr)
c.7495G>T (p.Asp2499Tyr)
c.7456G>T (p.Asp2486Tyr)
c.7402G>T (p.Asp2468Tyr)
c.7306G>T (p.Asp2436Tyr)
c.7276G>T (p.Asp2426Tyr)
c.7201G>T (p.Asp2401Tyr)
c.7099G>T (p.Asp2367Tyr)
c.6730G>T (p.Asp2244Tyr)
dbSNP
5g.112843173_112843175delinsGATCA1573472132APCc.7633_7635delinsGAT (p.Asp2545=)
c.*7585_*7587delinsGAT (n.*7585_*7587delinsGAT)
c.7525_7527delinsGAT (p.Asp2509=)
c.7579_7581delinsGAT (p.Asp2527=)
c.231-13476_231-13474delinsGAT
c.7609_7611delinsGAT (p.Asp2537=)
c.7504_7506delinsGAT (p.Asp2502=)
c.7495_7497delinsGAT (p.Asp2499=)
c.7456_7458delinsGAT (p.Asp2486=)
c.7402_7404delinsGAT (p.Asp2468=)
c.7306_7308delinsGAT (p.Asp2436=)
c.7276_7278delinsGAT (p.Asp2426=)
c.7201_7203delinsGAT (p.Asp2401=)
c.7099_7101delinsGAT (p.Asp2367=)
c.6730_6732delinsGAT (p.Asp2244=)
5g.112843174A>CCA16037803APCc.7634A>C (p.Asp2545Ala)
c.*7586A>C (n.*7586A>C)
c.7526A>C (p.Asp2509Ala)
c.7580A>C (p.Asp2527Ala)
c.231-13475A>C
c.7610A>C (p.Asp2537Ala)
c.7505A>C (p.Asp2502Ala)
c.7496A>C (p.Asp2499Ala)
c.7457A>C (p.Asp2486Ala)
c.7403A>C (p.Asp2468Ala)
c.7307A>C (p.Asp2436Ala)
c.7277A>C (p.Asp2426Ala)
c.7202A>C (p.Asp2401Ala)
c.7100A>C (p.Asp2367Ala)
c.6731A>C (p.Asp2244Ala)
5g.112843174A>GCA16037804APCc.7634A>G (p.Asp2545Gly)
c.*7586A>G (n.*7586A>G)
c.7526A>G (p.Asp2509Gly)
c.7580A>G (p.Asp2527Gly)
c.231-13475A>G
c.7610A>G (p.Asp2537Gly)
c.7505A>G (p.Asp2502Gly)
c.7496A>G (p.Asp2499Gly)
c.7457A>G (p.Asp2486Gly)
c.7403A>G (p.Asp2468Gly)
c.7307A>G (p.Asp2436Gly)
c.7277A>G (p.Asp2426Gly)
c.7202A>G (p.Asp2401Gly)
c.7100A>G (p.Asp2367Gly)
c.6731A>G (p.Asp2244Gly)
dbSNP
5g.112843174A>TCA16037805APCc.7634A>T (p.Asp2545Val)
c.*7586A>T (n.*7586A>T)
c.7526A>T (p.Asp2509Val)
c.7580A>T (p.Asp2527Val)
c.231-13475A>T
c.7610A>T (p.Asp2537Val)
c.7505A>T (p.Asp2502Val)
c.7496A>T (p.Asp2499Val)
c.7457A>T (p.Asp2486Val)
c.7403A>T (p.Asp2468Val)
c.7307A>T (p.Asp2436Val)
c.7277A>T (p.Asp2426Val)
c.7202A>T (p.Asp2401Val)
c.7100A>T (p.Asp2367Val)
c.6731A>T (p.Asp2244Val)
dbSNP
5g.112843176_112843177delCA915943523APCc.7636_7637del (p.Ile2546CysfsTer6)
c.*7588_*7589del (n.*7588_*7589del)
c.7528_7529del (p.Ile2510CysfsTer6)
c.7582_7583del (p.Ile2528CysfsTer6)
c.231-13473_231-13472del
c.7612_7613del (p.Ile2538CysfsTer6)
c.7507_7508del (p.Ile2503CysfsTer6)
c.7498_7499del (p.Ile2500CysfsTer6)
c.7459_7460del (p.Ile2487CysfsTer6)
c.7405_7406del (p.Ile2469CysfsTer6)
c.7309_7310del (p.Ile2437CysfsTer6)
c.7279_7280del (p.Ile2427CysfsTer6)
c.7204_7205del (p.Ile2402CysfsTer6)
c.7102_7103del (p.Ile2368CysfsTer6)
c.6733_6734del (p.Ile2245CysfsTer6)
ClinVar dbSNP
5g.112843175T>ACA16037806APCc.7635T>A (p.Asp2545Glu)
c.*7587T>A (n.*7587T>A)
c.7527T>A (p.Asp2509Glu)
c.7581T>A (p.Asp2527Glu)
c.231-13474T>A
c.7611T>A (p.Asp2537Glu)
c.7506T>A (p.Asp2502Glu)
c.7497T>A (p.Asp2499Glu)
c.7458T>A (p.Asp2486Glu)
c.7404T>A (p.Asp2468Glu)
c.7308T>A (p.Asp2436Glu)
c.7278T>A (p.Asp2426Glu)
c.7203T>A (p.Asp2401Glu)
c.7101T>A (p.Asp2367Glu)
c.6732T>A (p.Asp2244Glu)
dbSNP
5g.112843175T>CCA446210906APCc.7635T>C (p.Asp2545=)
c.*7587T>C (n.*7587T>C)
c.7527T>C (p.Asp2509=)
c.7581T>C (p.Asp2527=)
c.231-13474T>C
c.7611T>C (p.Asp2537=)
c.7506T>C (p.Asp2502=)
c.7497T>C (p.Asp2499=)
c.7458T>C (p.Asp2486=)
c.7404T>C (p.Asp2468=)
c.7308T>C (p.Asp2436=)
c.7278T>C (p.Asp2426=)
c.7203T>C (p.Asp2401=)
c.7101T>C (p.Asp2367=)
c.6732T>C (p.Asp2244=)
5g.112843175T>GCA16037807APCc.7635T>G (p.Asp2545Glu)
c.*7587T>G (n.*7587T>G)
c.7527T>G (p.Asp2509Glu)
c.7581T>G (p.Asp2527Glu)
c.231-13474T>G
c.7611T>G (p.Asp2537Glu)
c.7506T>G (p.Asp2502Glu)
c.7497T>G (p.Asp2499Glu)
c.7458T>G (p.Asp2486Glu)
c.7404T>G (p.Asp2468Glu)
c.7308T>G (p.Asp2436Glu)
c.7278T>G (p.Asp2426Glu)
c.7203T>G (p.Asp2401Glu)
c.7101T>G (p.Asp2367Glu)
c.6732T>G (p.Asp2244Glu)
dbSNP
5g.112843176delCA2582341628APCc.7636del (p.Ile2546LeufsTer?)
c.*7588del (n.*7588del)
c.7528del (p.Ile2510LeufsTer?)
c.7582del (p.Ile2528LeufsTer?)
c.231-13473del
c.7612del (p.Ile2538LeufsTer?)
c.7507del (p.Ile2503LeufsTer?)
c.7498del (p.Ile2500LeufsTer?)
c.7459del (p.Ile2487LeufsTer?)
c.7405del (p.Ile2469LeufsTer?)
c.7309del (p.Ile2437LeufsTer?)
c.7279del (p.Ile2427LeufsTer?)
c.7204del (p.Ile2402LeufsTer?)
c.7102del (p.Ile2368LeufsTer?)
c.6733del (p.Ile2245LeufsTer?)
ClinVar
5g.112843176A=CA1573472147APCc.7636A= (p.Ile2546=)
c.*7588A= (n.*7588A=)
c.7528A= (p.Ile2510=)
c.7582A= (p.Ile2528=)
c.231-13473A=
c.7612A= (p.Ile2538=)
c.7507A= (p.Ile2503=)
c.7498A= (p.Ile2500=)
c.7459A= (p.Ile2487=)
c.7405A= (p.Ile2469=)
c.7309A= (p.Ile2437=)
c.7279A= (p.Ile2427=)
c.7204A= (p.Ile2402=)
c.7102A= (p.Ile2368=)
c.6733A= (p.Ile2245=)
5g.112843176A>CCA16037808APCc.7636A>C (p.Ile2546Leu)
c.*7588A>C (n.*7588A>C)
c.7528A>C (p.Ile2510Leu)
c.7582A>C (p.Ile2528Leu)
c.231-13473A>C
c.7612A>C (p.Ile2538Leu)
c.7507A>C (p.Ile2503Leu)
c.7498A>C (p.Ile2500Leu)
c.7459A>C (p.Ile2487Leu)
c.7405A>C (p.Ile2469Leu)
c.7309A>C (p.Ile2437Leu)
c.7279A>C (p.Ile2427Leu)
c.7204A>C (p.Ile2402Leu)
c.7102A>C (p.Ile2368Leu)
c.6733A>C (p.Ile2245Leu)
dbSNP
5g.112843176A>GCA16037809APCc.7636A>G (p.Ile2546Val)
c.*7588A>G (n.*7588A>G)
c.7528A>G (p.Ile2510Val)
c.7582A>G (p.Ile2528Val)
c.231-13473A>G
c.7612A>G (p.Ile2538Val)
c.7507A>G (p.Ile2503Val)
c.7498A>G (p.Ile2500Val)
c.7459A>G (p.Ile2487Val)
c.7405A>G (p.Ile2469Val)
c.7309A>G (p.Ile2437Val)
c.7279A>G (p.Ile2427Val)
c.7204A>G (p.Ile2402Val)
c.7102A>G (p.Ile2368Val)
c.6733A>G (p.Ile2245Val)
ClinVar dbSNP
5g.112843176A>TCA16037810APCc.7636A>T (p.Ile2546Phe)
c.*7588A>T (n.*7588A>T)
c.7528A>T (p.Ile2510Phe)
c.7582A>T (p.Ile2528Phe)
c.231-13473A>T
c.7612A>T (p.Ile2538Phe)
c.7507A>T (p.Ile2503Phe)
c.7498A>T (p.Ile2500Phe)
c.7459A>T (p.Ile2487Phe)
c.7405A>T (p.Ile2469Phe)
c.7309A>T (p.Ile2437Phe)
c.7279A>T (p.Ile2427Phe)
c.7204A>T (p.Ile2402Phe)
c.7102A>T (p.Ile2368Phe)
c.6733A>T (p.Ile2245Phe)
dbSNP
5g.112843176dupCA2674869393APCc.7636dup (p.Ile2546AsnfsTer7)
c.*7588dup (n.*7588dup)
c.7528dup (p.Ile2510AsnfsTer7)
c.7582dup (p.Ile2528AsnfsTer7)
c.231-13473dup
c.7612dup (p.Ile2538AsnfsTer7)
c.7507dup (p.Ile2503AsnfsTer7)
c.7498dup (p.Ile2500AsnfsTer7)
c.7459dup (p.Ile2487AsnfsTer7)
c.7405dup (p.Ile2469AsnfsTer7)
c.7309dup (p.Ile2437AsnfsTer7)
c.7279dup (p.Ile2427AsnfsTer7)
c.7204dup (p.Ile2402AsnfsTer7)
c.7102dup (p.Ile2368AsnfsTer7)
c.6733dup (p.Ile2245AsnfsTer7)
gnomAD v4
5g.112843177T>ACA16037811APCc.7637T>A (p.Ile2546Asn)
c.*7589T>A (n.*7589T>A)
c.7529T>A (p.Ile2510Asn)
c.7583T>A (p.Ile2528Asn)
c.231-13472T>A
c.7613T>A (p.Ile2538Asn)
c.7508T>A (p.Ile2503Asn)
c.7499T>A (p.Ile2500Asn)
c.7460T>A (p.Ile2487Asn)
c.7406T>A (p.Ile2469Asn)
c.7310T>A (p.Ile2437Asn)
c.7280T>A (p.Ile2427Asn)
c.7205T>A (p.Ile2402Asn)
c.7103T>A (p.Ile2368Asn)
c.6734T>A (p.Ile2245Asn)
dbSNP
5g.112843177T>CCA013882APCc.7637T>C (p.Ile2546Thr)
c.*7589T>C (n.*7589T>C)
c.7529T>C (p.Ile2510Thr)
c.7583T>C (p.Ile2528Thr)
c.231-13472T>C
c.7613T>C (p.Ile2538Thr)
c.7508T>C (p.Ile2503Thr)
c.7499T>C (p.Ile2500Thr)
c.7460T>C (p.Ile2487Thr)
c.7406T>C (p.Ile2469Thr)
c.7310T>C (p.Ile2437Thr)
c.7280T>C (p.Ile2427Thr)
c.7205T>C (p.Ile2402Thr)
c.7103T>C (p.Ile2368Thr)
c.6734T>C (p.Ile2245Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112843177T>GCA048588APCc.7637T>G (p.Ile2546Ser)
c.*7589T>G (n.*7589T>G)
c.7529T>G (p.Ile2510Ser)
c.7583T>G (p.Ile2528Ser)
c.231-13472T>G
c.7613T>G (p.Ile2538Ser)
c.7508T>G (p.Ile2503Ser)
c.7499T>G (p.Ile2500Ser)
c.7460T>G (p.Ile2487Ser)
c.7406T>G (p.Ile2469Ser)
c.7310T>G (p.Ile2437Ser)
c.7280T>G (p.Ile2427Ser)
c.7205T>G (p.Ile2402Ser)
c.7103T>G (p.Ile2368Ser)
c.6734T>G (p.Ile2245Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112843177T=CA1573472159APCc.7637T= (p.Ile2546=)
c.*7589T= (n.*7589T=)
c.7529T= (p.Ile2510=)
c.7583T= (p.Ile2528=)
c.231-13472T=
c.7613T= (p.Ile2538=)
c.7508T= (p.Ile2503=)
c.7499T= (p.Ile2500=)
c.7460T= (p.Ile2487=)
c.7406T= (p.Ile2469=)
c.7310T= (p.Ile2437=)
c.7280T= (p.Ile2427=)
c.7205T= (p.Ile2402=)
c.7103T= (p.Ile2368=)
c.6734T= (p.Ile2245=)
5g.112843178T>ACA446210907APCc.7638T>A (p.Ile2546=)
c.*7590T>A (n.*7590T>A)
c.7530T>A (p.Ile2510=)
c.7584T>A (p.Ile2528=)
c.231-13471T>A
c.7614T>A (p.Ile2538=)
c.7509T>A (p.Ile2503=)
c.7500T>A (p.Ile2500=)
c.7461T>A (p.Ile2487=)
c.7407T>A (p.Ile2469=)
c.7311T>A (p.Ile2437=)
c.7281T>A (p.Ile2427=)
c.7206T>A (p.Ile2402=)
c.7104T>A (p.Ile2368=)
c.6735T>A (p.Ile2245=)
dbSNP COSMIC
5g.112843178T>CCA446210908APCc.7638T>C (p.Ile2546=)
c.*7590T>C (n.*7590T>C)
c.7530T>C (p.Ile2510=)
c.7584T>C (p.Ile2528=)
c.231-13471T>C
c.7614T>C (p.Ile2538=)
c.7509T>C (p.Ile2503=)
c.7500T>C (p.Ile2500=)
c.7461T>C (p.Ile2487=)
c.7407T>C (p.Ile2469=)
c.7311T>C (p.Ile2437=)
c.7281T>C (p.Ile2427=)
c.7206T>C (p.Ile2402=)
c.7104T>C (p.Ile2368=)
c.6735T>C (p.Ile2245=)
dbSNP gnomAD v4
5g.112843178T>GCA16037812APCc.7638T>G (p.Ile2546Met)
c.*7590T>G (n.*7590T>G)
c.7530T>G (p.Ile2510Met)
c.7584T>G (p.Ile2528Met)
c.231-13471T>G
c.7614T>G (p.Ile2538Met)
c.7509T>G (p.Ile2503Met)
c.7500T>G (p.Ile2500Met)
c.7461T>G (p.Ile2487Met)
c.7407T>G (p.Ile2469Met)
c.7311T>G (p.Ile2437Met)
c.7281T>G (p.Ile2427Met)
c.7206T>G (p.Ile2402Met)
c.7104T>G (p.Ile2368Met)
c.6735T>G (p.Ile2245Met)
dbSNP
5g.112843179G>ACA16037813APCc.7639G>A (p.Ala2547Thr)
c.*7591G>A (n.*7591G>A)
c.7531G>A (p.Ala2511Thr)
c.7585G>A (p.Ala2529Thr)
c.231-13470G>A
c.7615G>A (p.Ala2539Thr)
c.7510G>A (p.Ala2504Thr)
c.7501G>A (p.Ala2501Thr)
c.7462G>A (p.Ala2488Thr)
c.7408G>A (p.Ala2470Thr)
c.7312G>A (p.Ala2438Thr)
c.7282G>A (p.Ala2428Thr)
c.7207G>A (p.Ala2403Thr)
c.7105G>A (p.Ala2369Thr)
c.6736G>A (p.Ala2246Thr)
dbSNP
5g.112843179G>CCA16037814APCc.7639G>C (p.Ala2547Pro)
c.*7591G>C (n.*7591G>C)
c.7531G>C (p.Ala2511Pro)
c.7585G>C (p.Ala2529Pro)
c.231-13470G>C
c.7615G>C (p.Ala2539Pro)
c.7510G>C (p.Ala2504Pro)
c.7501G>C (p.Ala2501Pro)
c.7462G>C (p.Ala2488Pro)
c.7408G>C (p.Ala2470Pro)
c.7312G>C (p.Ala2438Pro)
c.7282G>C (p.Ala2428Pro)
c.7207G>C (p.Ala2403Pro)
c.7105G>C (p.Ala2369Pro)
c.6736G>C (p.Ala2246Pro)
dbSNP
5g.112843179G=CA1573472176APCc.7639G= (p.Ala2547=)
c.*7591G= (n.*7591G=)
c.7531G= (p.Ala2511=)
c.7585G= (p.Ala2529=)
c.231-13470G=
c.7615G= (p.Ala2539=)
c.7510G= (p.Ala2504=)
c.7501G= (p.Ala2501=)
c.7462G= (p.Ala2488=)
c.7408G= (p.Ala2470=)
c.7312G= (p.Ala2438=)
c.7282G= (p.Ala2428=)
c.7207G= (p.Ala2403=)
c.7105G= (p.Ala2369=)
c.6736G= (p.Ala2246=)
5g.112843179G>TCA16037815APCc.7639G>T (p.Ala2547Ser)
c.*7591G>T (n.*7591G>T)
c.7531G>T (p.Ala2511Ser)
c.7585G>T (p.Ala2529Ser)
c.231-13470G>T
c.7615G>T (p.Ala2539Ser)
c.7510G>T (p.Ala2504Ser)
c.7501G>T (p.Ala2501Ser)
c.7462G>T (p.Ala2488Ser)
c.7408G>T (p.Ala2470Ser)
c.7312G>T (p.Ala2438Ser)
c.7282G>T (p.Ala2428Ser)
c.7207G>T (p.Ala2403Ser)
c.7105G>T (p.Ala2369Ser)
c.6736G>T (p.Ala2246Ser)
dbSNP gnomAD v2 gnomAD v4
5g.112843180C>ACA16037816APCc.7640C>A (p.Ala2547Glu)
c.*7592C>A (n.*7592C>A)
c.7532C>A (p.Ala2511Glu)
c.7586C>A (p.Ala2529Glu)
c.231-13469C>A
c.7616C>A (p.Ala2539Glu)
c.7511C>A (p.Ala2504Glu)
c.7502C>A (p.Ala2501Glu)
c.7463C>A (p.Ala2488Glu)
c.7409C>A (p.Ala2470Glu)
c.7313C>A (p.Ala2438Glu)
c.7283C>A (p.Ala2428Glu)
c.7208C>A (p.Ala2403Glu)
c.7106C>A (p.Ala2369Glu)
c.6737C>A (p.Ala2246Glu)
dbSNP
5g.112843180C=CA1573472185APCc.7640C= (p.Ala2547=)
c.*7592C= (n.*7592C=)
c.7532C= (p.Ala2511=)
c.7586C= (p.Ala2529=)
c.231-13469C=
c.7616C= (p.Ala2539=)
c.7511C= (p.Ala2504=)
c.7502C= (p.Ala2501=)
c.7463C= (p.Ala2488=)
c.7409C= (p.Ala2470=)
c.7313C= (p.Ala2438=)
c.7283C= (p.Ala2428=)
c.7208C= (p.Ala2403=)
c.7106C= (p.Ala2369=)
c.6737C= (p.Ala2246=)
5g.112843180C>GCA16037817APCc.7640C>G (p.Ala2547Gly)
c.*7592C>G (n.*7592C>G)
c.7532C>G (p.Ala2511Gly)
c.7586C>G (p.Ala2529Gly)
c.231-13469C>G
c.7616C>G (p.Ala2539Gly)
c.7511C>G (p.Ala2504Gly)
c.7502C>G (p.Ala2501Gly)
c.7463C>G (p.Ala2488Gly)
c.7409C>G (p.Ala2470Gly)
c.7313C>G (p.Ala2438Gly)
c.7283C>G (p.Ala2428Gly)
c.7208C>G (p.Ala2403Gly)
c.7106C>G (p.Ala2369Gly)
c.6737C>G (p.Ala2246Gly)
dbSNP
5g.112843180C>TCA16037818APCc.7640C>T (p.Ala2547Val)
c.*7592C>T (n.*7592C>T)
c.7532C>T (p.Ala2511Val)
c.7586C>T (p.Ala2529Val)
c.231-13469C>T
c.7616C>T (p.Ala2539Val)
c.7511C>T (p.Ala2504Val)
c.7502C>T (p.Ala2501Val)
c.7463C>T (p.Ala2488Val)
c.7409C>T (p.Ala2470Val)
c.7313C>T (p.Ala2438Val)
c.7283C>T (p.Ala2428Val)
c.7208C>T (p.Ala2403Val)
c.7106C>T (p.Ala2369Val)
c.6737C>T (p.Ala2246Val)
ClinVar dbSNP
5g.112843181A>CCA446210911APCc.7641A>C (p.Ala2547=)
c.*7593A>C (n.*7593A>C)
c.7533A>C (p.Ala2511=)
c.7587A>C (p.Ala2529=)
c.231-13468A>C
c.7617A>C (p.Ala2539=)
c.7512A>C (p.Ala2504=)
c.7503A>C (p.Ala2501=)
c.7464A>C (p.Ala2488=)
c.7410A>C (p.Ala2470=)
c.7314A>C (p.Ala2438=)
c.7284A>C (p.Ala2428=)
c.7209A>C (p.Ala2403=)
c.7107A>C (p.Ala2369=)
c.6738A>C (p.Ala2246=)
dbSNP
5g.112843181A>GCA446210910APCc.7641A>G (p.Ala2547=)
c.*7593A>G (n.*7593A>G)
c.7533A>G (p.Ala2511=)
c.7587A>G (p.Ala2529=)
c.231-13468A>G
c.7617A>G (p.Ala2539=)
c.7512A>G (p.Ala2504=)
c.7503A>G (p.Ala2501=)
c.7464A>G (p.Ala2488=)
c.7410A>G (p.Ala2470=)
c.7314A>G (p.Ala2438=)
c.7284A>G (p.Ala2428=)
c.7209A>G (p.Ala2403=)
c.7107A>G (p.Ala2369=)
c.6738A>G (p.Ala2246=)
ClinVar dbSNP
5g.112843181A>TCA446210909APCc.7641A>T (p.Ala2547=)
c.*7593A>T (n.*7593A>T)
c.7533A>T (p.Ala2511=)
c.7587A>T (p.Ala2529=)
c.231-13468A>T
c.7617A>T (p.Ala2539=)
c.7512A>T (p.Ala2504=)
c.7503A>T (p.Ala2501=)
c.7464A>T (p.Ala2488=)
c.7410A>T (p.Ala2470=)
c.7314A>T (p.Ala2438=)
c.7284A>T (p.Ala2428=)
c.7209A>T (p.Ala2403=)
c.7107A>T (p.Ala2369=)
c.6738A>T (p.Ala2246=)
ClinVar dbSNP
5g.112843182C>ACA446210912APCc.7642C>A (p.Arg2548=)
c.*7594C>A (n.*7594C>A)
c.7534C>A (p.Arg2512=)
c.7588C>A (p.Arg2530=)
c.231-13467C>A
c.7618C>A (p.Arg2540=)
c.7513C>A (p.Arg2505=)
c.7504C>A (p.Arg2502=)
c.7465C>A (p.Arg2489=)
c.7411C>A (p.Arg2471=)
c.7315C>A (p.Arg2439=)
c.7285C>A (p.Arg2429=)
c.7210C>A (p.Arg2404=)
c.7108C>A (p.Arg2370=)
c.6739C>A (p.Arg2247=)
ClinVar dbSNP
5g.112843182C=CA1573472197APCc.7642C= (p.Arg2548=)
c.*7594C= (n.*7594C=)
c.7534C= (p.Arg2512=)
c.7588C= (p.Arg2530=)
c.231-13467C=
c.7618C= (p.Arg2540=)
c.7513C= (p.Arg2505=)
c.7504C= (p.Arg2502=)
c.7465C= (p.Arg2489=)
c.7411C= (p.Arg2471=)
c.7315C= (p.Arg2439=)
c.7285C= (p.Arg2429=)
c.7210C= (p.Arg2404=)
c.7108C= (p.Arg2370=)
c.6739C= (p.Arg2247=)
5g.112843182C>GCA16037819APCc.7642C>G (p.Arg2548Gly)
c.*7594C>G (n.*7594C>G)
c.7534C>G (p.Arg2512Gly)
c.7588C>G (p.Arg2530Gly)
c.231-13467C>G
c.7618C>G (p.Arg2540Gly)
c.7513C>G (p.Arg2505Gly)
c.7504C>G (p.Arg2502Gly)
c.7465C>G (p.Arg2489Gly)
c.7411C>G (p.Arg2471Gly)
c.7315C>G (p.Arg2439Gly)
c.7285C>G (p.Arg2429Gly)
c.7210C>G (p.Arg2404Gly)
c.7108C>G (p.Arg2370Gly)
c.6739C>G (p.Arg2247Gly)
dbSNP
5g.112843182C>TCA013892APCc.7642C>T (p.Arg2548Trp)
c.*7594C>T (n.*7594C>T)
c.7534C>T (p.Arg2512Trp)
c.7588C>T (p.Arg2530Trp)
c.231-13467C>T
c.7618C>T (p.Arg2540Trp)
c.7513C>T (p.Arg2505Trp)
c.7504C>T (p.Arg2502Trp)
c.7465C>T (p.Arg2489Trp)
c.7411C>T (p.Arg2471Trp)
c.7315C>T (p.Arg2439Trp)
c.7285C>T (p.Arg2429Trp)
c.7210C>T (p.Arg2404Trp)
c.7108C>T (p.Arg2370Trp)
c.6739C>T (p.Arg2247Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.112843183G>ACA013904APCc.7643G>A (p.Arg2548Gln)
c.*7595G>A (n.*7595G>A)
c.7535G>A (p.Arg2512Gln)
c.7589G>A (p.Arg2530Gln)
c.231-13466G>A
c.7619G>A (p.Arg2540Gln)
c.7514G>A (p.Arg2505Gln)
c.7505G>A (p.Arg2502Gln)
c.7466G>A (p.Arg2489Gln)
c.7412G>A (p.Arg2471Gln)
c.7316G>A (p.Arg2439Gln)
c.7286G>A (p.Arg2429Gln)
c.7211G>A (p.Arg2404Gln)
c.7109G>A (p.Arg2370Gln)
c.6740G>A (p.Arg2247Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843183G>CCA16037820APCc.7643G>C (p.Arg2548Pro)
c.*7595G>C (n.*7595G>C)
c.7535G>C (p.Arg2512Pro)
c.7589G>C (p.Arg2530Pro)
c.231-13466G>C
c.7619G>C (p.Arg2540Pro)
c.7514G>C (p.Arg2505Pro)
c.7505G>C (p.Arg2502Pro)
c.7466G>C (p.Arg2489Pro)
c.7412G>C (p.Arg2471Pro)
c.7316G>C (p.Arg2439Pro)
c.7286G>C (p.Arg2429Pro)
c.7211G>C (p.Arg2404Pro)
c.7109G>C (p.Arg2370Pro)
c.6740G>C (p.Arg2247Pro)
ClinVar dbSNP
5g.112843183G=CA1573472214APCc.7643G= (p.Arg2548=)
c.*7595G= (n.*7595G=)
c.7535G= (p.Arg2512=)
c.7589G= (p.Arg2530=)
c.231-13466G=
c.7619G= (p.Arg2540=)
c.7514G= (p.Arg2505=)
c.7505G= (p.Arg2502=)
c.7466G= (p.Arg2489=)
c.7412G= (p.Arg2471=)
c.7316G= (p.Arg2439=)
c.7286G= (p.Arg2429=)
c.7211G= (p.Arg2404=)
c.7109G= (p.Arg2370=)
c.6740G= (p.Arg2247=)
5g.112843183G>TCA16037821APCc.7643G>T (p.Arg2548Leu)
c.*7595G>T (n.*7595G>T)
c.7535G>T (p.Arg2512Leu)
c.7589G>T (p.Arg2530Leu)
c.231-13466G>T
c.7619G>T (p.Arg2540Leu)
c.7514G>T (p.Arg2505Leu)
c.7505G>T (p.Arg2502Leu)
c.7466G>T (p.Arg2489Leu)
c.7412G>T (p.Arg2471Leu)
c.7316G>T (p.Arg2439Leu)
c.7286G>T (p.Arg2429Leu)
c.7211G>T (p.Arg2404Leu)
c.7109G>T (p.Arg2370Leu)
c.6740G>T (p.Arg2247Leu)
dbSNP
5g.112843184G>ACA446211069APCc.7644G>A (p.Arg2548=)
c.*7596G>A (n.*7596G>A)
c.7536G>A (p.Arg2512=)
c.7590G>A (p.Arg2530=)
c.231-13465G>A
c.7620G>A (p.Arg2540=)
c.7515G>A (p.Arg2505=)
c.7506G>A (p.Arg2502=)
c.7467G>A (p.Arg2489=)
c.7413G>A (p.Arg2471=)
c.7317G>A (p.Arg2439=)
c.7287G>A (p.Arg2429=)
c.7212G>A (p.Arg2404=)
c.7110G>A (p.Arg2370=)
c.6741G>A (p.Arg2247=)
ClinVar dbSNP
5g.112843184G>CCA446211070APCc.7644G>C (p.Arg2548=)
c.*7596G>C (n.*7596G>C)
c.7536G>C (p.Arg2512=)
c.7590G>C (p.Arg2530=)
c.231-13465G>C
c.7620G>C (p.Arg2540=)
c.7515G>C (p.Arg2505=)
c.7506G>C (p.Arg2502=)
c.7467G>C (p.Arg2489=)
c.7413G>C (p.Arg2471=)
c.7317G>C (p.Arg2439=)
c.7287G>C (p.Arg2429=)
c.7212G>C (p.Arg2404=)
c.7110G>C (p.Arg2370=)
c.6741G>C (p.Arg2247=)
5g.112843184G>TCA446211071APCc.7644G>T (p.Arg2548=)
c.*7596G>T (n.*7596G>T)
c.7536G>T (p.Arg2512=)
c.7590G>T (p.Arg2530=)
c.231-13465G>T
c.7620G>T (p.Arg2540=)
c.7515G>T (p.Arg2505=)
c.7506G>T (p.Arg2502=)
c.7467G>T (p.Arg2489=)
c.7413G>T (p.Arg2471=)
c.7317G>T (p.Arg2439=)
c.7287G>T (p.Arg2429=)
c.7212G>T (p.Arg2404=)
c.7110G>T (p.Arg2370=)
c.6741G>T (p.Arg2247=)
dbSNP
5g.112843185T>ACA16037822APCc.7645T>A (p.Ser2549Thr)
c.*7597T>A (n.*7597T>A)
c.7537T>A (p.Ser2513Thr)
c.7591T>A (p.Ser2531Thr)
c.231-13464T>A
c.7621T>A (p.Ser2541Thr)
c.7516T>A (p.Ser2506Thr)
c.7507T>A (p.Ser2503Thr)
c.7468T>A (p.Ser2490Thr)
c.7414T>A (p.Ser2472Thr)
c.7318T>A (p.Ser2440Thr)
c.7288T>A (p.Ser2430Thr)
c.7213T>A (p.Ser2405Thr)
c.7111T>A (p.Ser2371Thr)
c.6742T>A (p.Ser2248Thr)
dbSNP
5g.112843185T>CCA16037823APCc.7645T>C (p.Ser2549Pro)
c.*7597T>C (n.*7597T>C)
c.7537T>C (p.Ser2513Pro)
c.7591T>C (p.Ser2531Pro)
c.231-13464T>C
c.7621T>C (p.Ser2541Pro)
c.7516T>C (p.Ser2506Pro)
c.7507T>C (p.Ser2503Pro)
c.7468T>C (p.Ser2490Pro)
c.7414T>C (p.Ser2472Pro)
c.7318T>C (p.Ser2440Pro)
c.7288T>C (p.Ser2430Pro)
c.7213T>C (p.Ser2405Pro)
c.7111T>C (p.Ser2371Pro)
c.6742T>C (p.Ser2248Pro)
dbSNP
5g.112843185T>GCA16037824APCc.7645T>G (p.Ser2549Ala)
c.*7597T>G (n.*7597T>G)
c.7537T>G (p.Ser2513Ala)
c.7591T>G (p.Ser2531Ala)
c.231-13464T>G
c.7621T>G (p.Ser2541Ala)
c.7516T>G (p.Ser2506Ala)
c.7507T>G (p.Ser2503Ala)
c.7468T>G (p.Ser2490Ala)
c.7414T>G (p.Ser2472Ala)
c.7318T>G (p.Ser2440Ala)
c.7288T>G (p.Ser2430Ala)
c.7213T>G (p.Ser2405Ala)
c.7111T>G (p.Ser2371Ala)
c.6742T>G (p.Ser2248Ala)
ClinVar dbSNP gnomAD v4
5g.112843185T=CA1573472228APCc.7645T= (p.Ser2549=)
c.*7597T= (n.*7597T=)
c.7537T= (p.Ser2513=)
c.7591T= (p.Ser2531=)
c.231-13464T=
c.7621T= (p.Ser2541=)
c.7516T= (p.Ser2506=)
c.7507T= (p.Ser2503=)
c.7468T= (p.Ser2490=)
c.7414T= (p.Ser2472=)
c.7318T= (p.Ser2440=)
c.7288T= (p.Ser2430=)
c.7213T= (p.Ser2405=)
c.7111T= (p.Ser2371=)
c.6742T= (p.Ser2248=)
5g.112843186C>ACA16037825APCc.7646C>A (p.Ser2549Tyr)
c.*7598C>A (n.*7598C>A)
c.7538C>A (p.Ser2513Tyr)
c.7592C>A (p.Ser2531Tyr)
c.231-13463C>A
c.7622C>A (p.Ser2541Tyr)
c.7517C>A (p.Ser2506Tyr)
c.7508C>A (p.Ser2503Tyr)
c.7469C>A (p.Ser2490Tyr)
c.7415C>A (p.Ser2472Tyr)
c.7319C>A (p.Ser2440Tyr)
c.7289C>A (p.Ser2430Tyr)
c.7214C>A (p.Ser2405Tyr)
c.7112C>A (p.Ser2371Tyr)
c.6743C>A (p.Ser2248Tyr)
dbSNP
5g.112843186C=CA1573472250APCc.7646C= (p.Ser2549=)
c.*7598C= (n.*7598C=)
c.7538C= (p.Ser2513=)
c.7592C= (p.Ser2531=)
c.231-13463C=
c.7622C= (p.Ser2541=)
c.7517C= (p.Ser2506=)
c.7508C= (p.Ser2503=)
c.7469C= (p.Ser2490=)
c.7415C= (p.Ser2472=)
c.7319C= (p.Ser2440=)
c.7289C= (p.Ser2430=)
c.7214C= (p.Ser2405=)
c.7112C= (p.Ser2371=)
c.6743C= (p.Ser2248=)
5g.112843186C>GCA16037826APCc.7646C>G (p.Ser2549Cys)
c.*7598C>G (n.*7598C>G)
c.7538C>G (p.Ser2513Cys)
c.7592C>G (p.Ser2531Cys)
c.231-13463C>G
c.7622C>G (p.Ser2541Cys)
c.7517C>G (p.Ser2506Cys)
c.7508C>G (p.Ser2503Cys)
c.7469C>G (p.Ser2490Cys)
c.7415C>G (p.Ser2472Cys)
c.7319C>G (p.Ser2440Cys)
c.7289C>G (p.Ser2430Cys)
c.7214C>G (p.Ser2405Cys)
c.7112C>G (p.Ser2371Cys)
c.6743C>G (p.Ser2248Cys)
ClinVar dbSNP
5g.112843186C>TCA16037827APCc.7646C>T (p.Ser2549Phe)
c.*7598C>T (n.*7598C>T)
c.7538C>T (p.Ser2513Phe)
c.7592C>T (p.Ser2531Phe)
c.231-13463C>T
c.7622C>T (p.Ser2541Phe)
c.7517C>T (p.Ser2506Phe)
c.7508C>T (p.Ser2503Phe)
c.7469C>T (p.Ser2490Phe)
c.7415C>T (p.Ser2472Phe)
c.7319C>T (p.Ser2440Phe)
c.7289C>T (p.Ser2430Phe)
c.7214C>T (p.Ser2405Phe)
c.7112C>T (p.Ser2371Phe)
c.6743C>T (p.Ser2248Phe)
dbSNP
5g.112843187T>ACA446211072APCc.7647T>A (p.Ser2549=)
c.*7599T>A (n.*7599T>A)
c.7539T>A (p.Ser2513=)
c.7593T>A (p.Ser2531=)
c.231-13462T>A
c.7623T>A (p.Ser2541=)
c.7518T>A (p.Ser2506=)
c.7509T>A (p.Ser2503=)
c.7470T>A (p.Ser2490=)
c.7416T>A (p.Ser2472=)
c.7320T>A (p.Ser2440=)
c.7290T>A (p.Ser2430=)
c.7215T>A (p.Ser2405=)
c.7113T>A (p.Ser2371=)
c.6744T>A (p.Ser2248=)
5g.112843187T>CCA446211073APCc.7647T>C (p.Ser2549=)
c.*7599T>C (n.*7599T>C)
c.7539T>C (p.Ser2513=)
c.7593T>C (p.Ser2531=)
c.231-13462T>C
c.7623T>C (p.Ser2541=)
c.7518T>C (p.Ser2506=)
c.7509T>C (p.Ser2503=)
c.7470T>C (p.Ser2490=)
c.7416T>C (p.Ser2472=)
c.7320T>C (p.Ser2440=)
c.7290T>C (p.Ser2430=)
c.7215T>C (p.Ser2405=)
c.7113T>C (p.Ser2371=)
c.6744T>C (p.Ser2248=)
5g.112843187T>GCA446211074APCc.7647T>G (p.Ser2549=)
c.*7599T>G (n.*7599T>G)
c.7539T>G (p.Ser2513=)
c.7593T>G (p.Ser2531=)
c.231-13462T>G
c.7623T>G (p.Ser2541=)
c.7518T>G (p.Ser2506=)
c.7509T>G (p.Ser2503=)
c.7470T>G (p.Ser2490=)
c.7416T>G (p.Ser2472=)
c.7320T>G (p.Ser2440=)
c.7290T>G (p.Ser2430=)
c.7215T>G (p.Ser2405=)
c.7113T>G (p.Ser2371=)
c.6744T>G (p.Ser2248=)
ClinVar dbSNP gnomAD v4
5g.112843187T=CA1573472259APCc.7647T= (p.Ser2549=)
c.*7599T= (n.*7599T=)
c.7539T= (p.Ser2513=)
c.7593T= (p.Ser2531=)
c.231-13462T=
c.7623T= (p.Ser2541=)
c.7518T= (p.Ser2506=)
c.7509T= (p.Ser2503=)
c.7470T= (p.Ser2490=)
c.7416T= (p.Ser2472=)
c.7320T= (p.Ser2440=)
c.7290T= (p.Ser2430=)
c.7215T= (p.Ser2405=)
c.7113T= (p.Ser2371=)
c.6744T= (p.Ser2248=)
5g.112843188C>ACA16037828APCc.7648C>A (p.His2550Asn)
c.*7600C>A (n.*7600C>A)
c.7540C>A (p.His2514Asn)
c.7594C>A (p.His2532Asn)
c.231-13461C>A
c.7624C>A (p.His2542Asn)
c.7519C>A (p.His2507Asn)
c.7510C>A (p.His2504Asn)
c.7471C>A (p.His2491Asn)
c.7417C>A (p.His2473Asn)
c.7321C>A (p.His2441Asn)
c.7291C>A (p.His2431Asn)
c.7216C>A (p.His2406Asn)
c.7114C>A (p.His2372Asn)
c.6745C>A (p.His2249Asn)
5g.112843188C=CA1573472281APCc.7648C= (p.His2550=)
c.*7600C= (n.*7600C=)
c.7540C= (p.His2514=)
c.7594C= (p.His2532=)
c.231-13461C=
c.7624C= (p.His2542=)
c.7519C= (p.His2507=)
c.7510C= (p.His2504=)
c.7471C= (p.His2491=)
c.7417C= (p.His2473=)
c.7321C= (p.His2441=)
c.7291C= (p.His2431=)
c.7216C= (p.His2406=)
c.7114C= (p.His2372=)
c.6745C= (p.His2249=)
5g.112843188C>GCA16037829APCc.7648C>G (p.His2550Asp)
c.*7600C>G (n.*7600C>G)
c.7540C>G (p.His2514Asp)
c.7594C>G (p.His2532Asp)
c.231-13461C>G
c.7624C>G (p.His2542Asp)
c.7519C>G (p.His2507Asp)
c.7510C>G (p.His2504Asp)
c.7471C>G (p.His2491Asp)
c.7417C>G (p.His2473Asp)
c.7321C>G (p.His2441Asp)
c.7291C>G (p.His2431Asp)
c.7216C>G (p.His2406Asp)
c.7114C>G (p.His2372Asp)
c.6745C>G (p.His2249Asp)
ClinVar dbSNP
5g.112843188C>TCA048637APCc.7648C>T (p.His2550Tyr)
c.*7600C>T (n.*7600C>T)
c.7540C>T (p.His2514Tyr)
c.7594C>T (p.His2532Tyr)
c.231-13461C>T
c.7624C>T (p.His2542Tyr)
c.7519C>T (p.His2507Tyr)
c.7510C>T (p.His2504Tyr)
c.7471C>T (p.His2491Tyr)
c.7417C>T (p.His2473Tyr)
c.7321C>T (p.His2441Tyr)
c.7291C>T (p.His2431Tyr)
c.7216C>T (p.His2406Tyr)
c.7114C>T (p.His2372Tyr)
c.6745C>T (p.His2249Tyr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.112843189A=CA1573472298APCc.7649A= (p.His2550=)
c.*7601A= (n.*7601A=)
c.7541A= (p.His2514=)
c.7595A= (p.His2532=)
c.231-13460A=
c.7625A= (p.His2542=)
c.7520A= (p.His2507=)
c.7511A= (p.His2504=)
c.7472A= (p.His2491=)
c.7418A= (p.His2473=)
c.7322A= (p.His2441=)
c.7292A= (p.His2431=)
c.7217A= (p.His2406=)
c.7115A= (p.His2372=)
c.6746A= (p.His2249=)
5g.112843189A>CCA16037830APCc.7649A>C (p.His2550Pro)
c.*7601A>C (n.*7601A>C)
c.7541A>C (p.His2514Pro)
c.7595A>C (p.His2532Pro)
c.231-13460A>C
c.7625A>C (p.His2542Pro)
c.7520A>C (p.His2507Pro)
c.7511A>C (p.His2504Pro)
c.7472A>C (p.His2491Pro)
c.7418A>C (p.His2473Pro)
c.7322A>C (p.His2441Pro)
c.7292A>C (p.His2431Pro)
c.7217A>C (p.His2406Pro)
c.7115A>C (p.His2372Pro)
c.6746A>C (p.His2249Pro)
5g.112843189A>GCA048653APCc.7649A>G (p.His2550Arg)
c.*7601A>G (n.*7601A>G)
c.7541A>G (p.His2514Arg)
c.7595A>G (p.His2532Arg)
c.231-13460A>G
c.7625A>G (p.His2542Arg)
c.7520A>G (p.His2507Arg)
c.7511A>G (p.His2504Arg)
c.7472A>G (p.His2491Arg)
c.7418A>G (p.His2473Arg)
c.7322A>G (p.His2441Arg)
c.7292A>G (p.His2431Arg)
c.7217A>G (p.His2406Arg)
c.7115A>G (p.His2372Arg)
c.6746A>G (p.His2249Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112843189A>TCA16037831APCc.7649A>T (p.His2550Leu)
c.*7601A>T (n.*7601A>T)
c.7541A>T (p.His2514Leu)
c.7595A>T (p.His2532Leu)
c.231-13460A>T
c.7625A>T (p.His2542Leu)
c.7520A>T (p.His2507Leu)
c.7511A>T (p.His2504Leu)
c.7472A>T (p.His2491Leu)
c.7418A>T (p.His2473Leu)
c.7322A>T (p.His2441Leu)
c.7292A>T (p.His2431Leu)
c.7217A>T (p.His2406Leu)
c.7115A>T (p.His2372Leu)
c.6746A>T (p.His2249Leu)
ClinVar
5g.112843190T>ACA16037832APCc.7650T>A (p.His2550Gln)
c.*7602T>A (n.*7602T>A)
c.7542T>A (p.His2514Gln)
c.7596T>A (p.His2532Gln)
c.231-13459T>A
c.7626T>A (p.His2542Gln)
c.7521T>A (p.His2507Gln)
c.7512T>A (p.His2504Gln)
c.7473T>A (p.His2491Gln)
c.7419T>A (p.His2473Gln)
c.7323T>A (p.His2441Gln)
c.7293T>A (p.His2431Gln)
c.7218T>A (p.His2406Gln)
c.7116T>A (p.His2372Gln)
c.6747T>A (p.His2249Gln)
dbSNP
5g.112843190T>CCA446211075APCc.7650T>C (p.His2550=)
c.*7602T>C (n.*7602T>C)
c.7542T>C (p.His2514=)
c.7596T>C (p.His2532=)
c.231-13459T>C
c.7626T>C (p.His2542=)
c.7521T>C (p.His2507=)
c.7512T>C (p.His2504=)
c.7473T>C (p.His2491=)
c.7419T>C (p.His2473=)
c.7323T>C (p.His2441=)
c.7293T>C (p.His2431=)
c.7218T>C (p.His2406=)
c.7116T>C (p.His2372=)
c.6747T>C (p.His2249=)
5g.112843190T>GCA013915APCc.7650T>G (p.His2550Gln)
c.*7602T>G (n.*7602T>G)
c.7542T>G (p.His2514Gln)
c.7596T>G (p.His2532Gln)
c.231-13459T>G
c.7626T>G (p.His2542Gln)
c.7521T>G (p.His2507Gln)
c.7512T>G (p.His2504Gln)
c.7473T>G (p.His2491Gln)
c.7419T>G (p.His2473Gln)
c.7323T>G (p.His2441Gln)
c.7293T>G (p.His2431Gln)
c.7218T>G (p.His2406Gln)
c.7116T>G (p.His2372Gln)
c.6747T>G (p.His2249Gln)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112843190T=CA1573472315APCc.7650T= (p.His2550=)
c.*7602T= (n.*7602T=)
c.7542T= (p.His2514=)
c.7596T= (p.His2532=)
c.231-13459T=
c.7626T= (p.His2542=)
c.7521T= (p.His2507=)
c.7512T= (p.His2504=)
c.7473T= (p.His2491=)
c.7419T= (p.His2473=)
c.7323T= (p.His2441=)
c.7293T= (p.His2431=)
c.7218T= (p.His2406=)
c.7116T= (p.His2372=)
c.6747T= (p.His2249=)
5g.112843191T>ACA16037833APCc.7651T>A (p.Ser2551Thr)
c.*7603T>A (n.*7603T>A)
c.7543T>A (p.Ser2515Thr)
c.7597T>A (p.Ser2533Thr)
c.231-13458T>A
c.7627T>A (p.Ser2543Thr)
c.7522T>A (p.Ser2508Thr)
c.7513T>A (p.Ser2505Thr)
c.7474T>A (p.Ser2492Thr)
c.7420T>A (p.Ser2474Thr)
c.7324T>A (p.Ser2442Thr)
c.7294T>A (p.Ser2432Thr)
c.7219T>A (p.Ser2407Thr)
c.7117T>A (p.Ser2373Thr)
c.6748T>A (p.Ser2250Thr)
5g.112843191T>CCA16037834APCc.7651T>C (p.Ser2551Pro)
c.*7603T>C (n.*7603T>C)
c.7543T>C (p.Ser2515Pro)
c.7597T>C (p.Ser2533Pro)
c.231-13458T>C
c.7627T>C (p.Ser2543Pro)
c.7522T>C (p.Ser2508Pro)
c.7513T>C (p.Ser2505Pro)
c.7474T>C (p.Ser2492Pro)
c.7420T>C (p.Ser2474Pro)
c.7324T>C (p.Ser2442Pro)
c.7294T>C (p.Ser2432Pro)
c.7219T>C (p.Ser2407Pro)
c.7117T>C (p.Ser2373Pro)
c.6748T>C (p.Ser2250Pro)
ClinVar dbSNP
5g.112843191T>GCA16037835APCc.7651T>G (p.Ser2551Ala)
c.*7603T>G (n.*7603T>G)
c.7543T>G (p.Ser2515Ala)
c.7597T>G (p.Ser2533Ala)
c.231-13458T>G
c.7627T>G (p.Ser2543Ala)
c.7522T>G (p.Ser2508Ala)
c.7513T>G (p.Ser2505Ala)
c.7474T>G (p.Ser2492Ala)
c.7420T>G (p.Ser2474Ala)
c.7324T>G (p.Ser2442Ala)
c.7294T>G (p.Ser2432Ala)
c.7219T>G (p.Ser2407Ala)
c.7117T>G (p.Ser2373Ala)
c.6748T>G (p.Ser2250Ala)
5g.112843191T=CA1573472325APCc.7651T= (p.Ser2551=)
c.*7603T= (n.*7603T=)
c.7543T= (p.Ser2515=)
c.7597T= (p.Ser2533=)
c.231-13458T=
c.7627T= (p.Ser2543=)
c.7522T= (p.Ser2508=)
c.7513T= (p.Ser2505=)
c.7474T= (p.Ser2492=)
c.7420T= (p.Ser2474=)
c.7324T= (p.Ser2442=)
c.7294T= (p.Ser2432=)
c.7219T= (p.Ser2407=)
c.7117T= (p.Ser2373=)
c.6748T= (p.Ser2250=)
5g.112843192C>ACA16037836APCc.7652C>A (p.Ser2551Tyr)
c.*7604C>A (n.*7604C>A)
c.7544C>A (p.Ser2515Tyr)
c.7598C>A (p.Ser2533Tyr)
c.231-13457C>A
c.7628C>A (p.Ser2543Tyr)
c.7523C>A (p.Ser2508Tyr)
c.7514C>A (p.Ser2505Tyr)
c.7475C>A (p.Ser2492Tyr)
c.7421C>A (p.Ser2474Tyr)
c.7325C>A (p.Ser2442Tyr)
c.7295C>A (p.Ser2432Tyr)
c.7220C>A (p.Ser2407Tyr)
c.7118C>A (p.Ser2373Tyr)
c.6749C>A (p.Ser2250Tyr)
dbSNP
5g.112843192C=CA1573472329APCc.7652C= (p.Ser2551=)
c.*7604C= (n.*7604C=)
c.7544C= (p.Ser2515=)
c.7598C= (p.Ser2533=)
c.231-13457C=
c.7628C= (p.Ser2543=)
c.7523C= (p.Ser2508=)
c.7514C= (p.Ser2505=)
c.7475C= (p.Ser2492=)
c.7421C= (p.Ser2474=)
c.7325C= (p.Ser2442=)
c.7295C= (p.Ser2432=)
c.7220C= (p.Ser2407=)
c.7118C= (p.Ser2373=)
c.6749C= (p.Ser2250=)
5g.112843192C>GCA16037837APCc.7652C>G (p.Ser2551Cys)
c.*7604C>G (n.*7604C>G)
c.7544C>G (p.Ser2515Cys)
c.7598C>G (p.Ser2533Cys)
c.231-13457C>G
c.7628C>G (p.Ser2543Cys)
c.7523C>G (p.Ser2508Cys)
c.7514C>G (p.Ser2505Cys)
c.7475C>G (p.Ser2492Cys)
c.7421C>G (p.Ser2474Cys)
c.7325C>G (p.Ser2442Cys)
c.7295C>G (p.Ser2432Cys)
c.7220C>G (p.Ser2407Cys)
c.7118C>G (p.Ser2373Cys)
c.6749C>G (p.Ser2250Cys)
ClinVar dbSNP
5g.112843192C>TCA16037838APCc.7652C>T (p.Ser2551Phe)
c.*7604C>T (n.*7604C>T)
c.7544C>T (p.Ser2515Phe)
c.7598C>T (p.Ser2533Phe)
c.231-13457C>T
c.7628C>T (p.Ser2543Phe)
c.7523C>T (p.Ser2508Phe)
c.7514C>T (p.Ser2505Phe)
c.7475C>T (p.Ser2492Phe)
c.7421C>T (p.Ser2474Phe)
c.7325C>T (p.Ser2442Phe)
c.7295C>T (p.Ser2432Phe)
c.7220C>T (p.Ser2407Phe)
c.7118C>T (p.Ser2373Phe)
c.6749C>T (p.Ser2250Phe)
ClinVar dbSNP COSMIC
5g.112843193T>ACA446211076APCc.7653T>A (p.Ser2551=)
c.*7605T>A (n.*7605T>A)
c.7545T>A (p.Ser2515=)
c.7599T>A (p.Ser2533=)
c.231-13456T>A
c.7629T>A (p.Ser2543=)
c.7524T>A (p.Ser2508=)
c.7515T>A (p.Ser2505=)
c.7476T>A (p.Ser2492=)
c.7422T>A (p.Ser2474=)
c.7326T>A (p.Ser2442=)
c.7296T>A (p.Ser2432=)
c.7221T>A (p.Ser2407=)
c.7119T>A (p.Ser2373=)
c.6750T>A (p.Ser2250=)
dbSNP
5g.112843193T>CCA446211077APCc.7653T>C (p.Ser2551=)
c.*7605T>C (n.*7605T>C)
c.7545T>C (p.Ser2515=)
c.7599T>C (p.Ser2533=)
c.231-13456T>C
c.7629T>C (p.Ser2543=)
c.7524T>C (p.Ser2508=)
c.7515T>C (p.Ser2505=)
c.7476T>C (p.Ser2492=)
c.7422T>C (p.Ser2474=)
c.7326T>C (p.Ser2442=)
c.7296T>C (p.Ser2432=)
c.7221T>C (p.Ser2407=)
c.7119T>C (p.Ser2373=)
c.6750T>C (p.Ser2250=)
ClinVar dbSNP COSMIC
5g.112843193T>GCA446211078APCc.7653T>G (p.Ser2551=)
c.*7605T>G (n.*7605T>G)
c.7545T>G (p.Ser2515=)
c.7599T>G (p.Ser2533=)
c.231-13456T>G
c.7629T>G (p.Ser2543=)
c.7524T>G (p.Ser2508=)
c.7515T>G (p.Ser2505=)
c.7476T>G (p.Ser2492=)
c.7422T>G (p.Ser2474=)
c.7326T>G (p.Ser2442=)
c.7296T>G (p.Ser2432=)
c.7221T>G (p.Ser2407=)
c.7119T>G (p.Ser2373=)
c.6750T>G (p.Ser2250=)
dbSNP
5g.112843193T=CA1573472338APCc.7653T= (p.Ser2551=)
c.*7605T= (n.*7605T=)
c.7545T= (p.Ser2515=)
c.7599T= (p.Ser2533=)
c.231-13456T=
c.7629T= (p.Ser2543=)
c.7524T= (p.Ser2508=)
c.7515T= (p.Ser2505=)
c.7476T= (p.Ser2492=)
c.7422T= (p.Ser2474=)
c.7326T= (p.Ser2442=)
c.7296T= (p.Ser2432=)
c.7221T= (p.Ser2407=)
c.7119T= (p.Ser2373=)
c.6750T= (p.Ser2250=)
5g.112843194G>ACA16037839APCc.7654G>A (p.Glu2552Lys)
c.*7606G>A (n.*7606G>A)
c.7546G>A (p.Glu2516Lys)
c.7600G>A (p.Glu2534Lys)
c.231-13455G>A
c.7630G>A (p.Glu2544Lys)
c.7525G>A (p.Glu2509Lys)
c.7516G>A (p.Glu2506Lys)
c.7477G>A (p.Glu2493Lys)
c.7423G>A (p.Glu2475Lys)
c.7327G>A (p.Glu2443Lys)
c.7297G>A (p.Glu2433Lys)
c.7222G>A (p.Glu2408Lys)
c.7120G>A (p.Glu2374Lys)
c.6751G>A (p.Glu2251Lys)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112843194G>CCA16037840APCc.7654G>C (p.Glu2552Gln)
c.*7606G>C (n.*7606G>C)
c.7546G>C (p.Glu2516Gln)
c.7600G>C (p.Glu2534Gln)
c.231-13455G>C
c.7630G>C (p.Glu2544Gln)
c.7525G>C (p.Glu2509Gln)
c.7516G>C (p.Glu2506Gln)
c.7477G>C (p.Glu2493Gln)
c.7423G>C (p.Glu2475Gln)
c.7327G>C (p.Glu2443Gln)
c.7297G>C (p.Glu2433Gln)
c.7222G>C (p.Glu2408Gln)
c.7120G>C (p.Glu2374Gln)
c.6751G>C (p.Glu2251Gln)
ClinVar dbSNP
5g.112843194G=CA1573472347APCc.7654G= (p.Glu2552=)
c.*7606G= (n.*7606G=)
c.7546G= (p.Glu2516=)
c.7600G= (p.Glu2534=)
c.231-13455G=
c.7630G= (p.Glu2544=)
c.7525G= (p.Glu2509=)
c.7516G= (p.Glu2506=)
c.7477G= (p.Glu2493=)
c.7423G= (p.Glu2475=)
c.7327G= (p.Glu2443=)
c.7297G= (p.Glu2433=)
c.7222G= (p.Glu2408=)
c.7120G= (p.Glu2374=)
c.6751G= (p.Glu2251=)
5g.112843194G>TCA16037841APCc.7654G>T (p.Glu2552Ter)
c.*7606G>T (n.*7606G>T)
c.7546G>T (p.Glu2516Ter)
c.7600G>T (p.Glu2534Ter)
c.231-13455G>T
c.7630G>T (p.Glu2544Ter)
c.7525G>T (p.Glu2509Ter)
c.7516G>T (p.Glu2506Ter)
c.7477G>T (p.Glu2493Ter)
c.7423G>T (p.Glu2475Ter)
c.7327G>T (p.Glu2443Ter)
c.7297G>T (p.Glu2433Ter)
c.7222G>T (p.Glu2408Ter)
c.7120G>T (p.Glu2374Ter)
c.6751G>T (p.Glu2251Ter)
dbSNP
5g.112843195A>CCA16037842APCc.7655A>C (p.Glu2552Ala)
c.*7607A>C (n.*7607A>C)
c.7547A>C (p.Glu2516Ala)
c.7601A>C (p.Glu2534Ala)
c.231-13454A>C
c.7631A>C (p.Glu2544Ala)
c.7526A>C (p.Glu2509Ala)
c.7517A>C (p.Glu2506Ala)
c.7478A>C (p.Glu2493Ala)
c.7424A>C (p.Glu2475Ala)
c.7328A>C (p.Glu2443Ala)
c.7298A>C (p.Glu2433Ala)
c.7223A>C (p.Glu2408Ala)
c.7121A>C (p.Glu2374Ala)
c.6752A>C (p.Glu2251Ala)
5g.112843195A>GCA16037843APCc.7655A>G (p.Glu2552Gly)
c.*7607A>G (n.*7607A>G)
c.7547A>G (p.Glu2516Gly)
c.7601A>G (p.Glu2534Gly)
c.231-13454A>G
c.7631A>G (p.Glu2544Gly)
c.7526A>G (p.Glu2509Gly)
c.7517A>G (p.Glu2506Gly)
c.7478A>G (p.Glu2493Gly)
c.7424A>G (p.Glu2475Gly)
c.7328A>G (p.Glu2443Gly)
c.7298A>G (p.Glu2433Gly)
c.7223A>G (p.Glu2408Gly)
c.7121A>G (p.Glu2374Gly)
c.6752A>G (p.Glu2251Gly)
dbSNP
5g.112843195A>TCA16037844APCc.7655A>T (p.Glu2552Val)
c.*7607A>T (n.*7607A>T)
c.7547A>T (p.Glu2516Val)
c.7601A>T (p.Glu2534Val)
c.231-13454A>T
c.7631A>T (p.Glu2544Val)
c.7526A>T (p.Glu2509Val)
c.7517A>T (p.Glu2506Val)
c.7478A>T (p.Glu2493Val)
c.7424A>T (p.Glu2475Val)
c.7328A>T (p.Glu2443Val)
c.7298A>T (p.Glu2433Val)
c.7223A>T (p.Glu2408Val)
c.7121A>T (p.Glu2374Val)
c.6752A>T (p.Glu2251Val)
dbSNP gnomAD v4
5g.112843196A=CA1573472356APCc.7656A= (p.Glu2552=)
c.*7608A= (n.*7608A=)
c.7548A= (p.Glu2516=)
c.7602A= (p.Glu2534=)
c.231-13453A=
c.7632A= (p.Glu2544=)
c.7527A= (p.Glu2509=)
c.7518A= (p.Glu2506=)
c.7479A= (p.Glu2493=)
c.7425A= (p.Glu2475=)
c.7329A= (p.Glu2443=)
c.7299A= (p.Glu2433=)
c.7224A= (p.Glu2408=)
c.7122A= (p.Glu2374=)
c.6753A= (p.Glu2251=)
5g.112843196A>CCA16037845APCc.7656A>C (p.Glu2552Asp)
c.*7608A>C (n.*7608A>C)
c.7548A>C (p.Glu2516Asp)
c.7602A>C (p.Glu2534Asp)
c.231-13453A>C
c.7632A>C (p.Glu2544Asp)
c.7527A>C (p.Glu2509Asp)
c.7518A>C (p.Glu2506Asp)
c.7479A>C (p.Glu2493Asp)
c.7425A>C (p.Glu2475Asp)
c.7329A>C (p.Glu2443Asp)
c.7299A>C (p.Glu2433Asp)
c.7224A>C (p.Glu2408Asp)
c.7122A>C (p.Glu2374Asp)
c.6753A>C (p.Glu2251Asp)
dbSNP
5g.112843196A>GCA446211079APCc.7656A>G (p.Glu2552=)
c.*7608A>G (n.*7608A>G)
c.7548A>G (p.Glu2516=)
c.7602A>G (p.Glu2534=)
c.231-13453A>G
c.7632A>G (p.Glu2544=)
c.7527A>G (p.Glu2509=)
c.7518A>G (p.Glu2506=)
c.7479A>G (p.Glu2493=)
c.7425A>G (p.Glu2475=)
c.7329A>G (p.Glu2443=)
c.7299A>G (p.Glu2433=)
c.7224A>G (p.Glu2408=)
c.7122A>G (p.Glu2374=)
c.6753A>G (p.Glu2251=)
ClinVar dbSNP
5g.112843196A>TCA16037846APCc.7656A>T (p.Glu2552Asp)
c.*7608A>T (n.*7608A>T)
c.7548A>T (p.Glu2516Asp)
c.7602A>T (p.Glu2534Asp)
c.231-13453A>T
c.7632A>T (p.Glu2544Asp)
c.7527A>T (p.Glu2509Asp)
c.7518A>T (p.Glu2506Asp)
c.7479A>T (p.Glu2493Asp)
c.7425A>T (p.Glu2475Asp)
c.7329A>T (p.Glu2443Asp)
c.7299A>T (p.Glu2433Asp)
c.7224A>T (p.Glu2408Asp)
c.7122A>T (p.Glu2374Asp)
c.6753A>T (p.Glu2251Asp)
dbSNP
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

Number of alleles fetched