Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.41230499A>CCA412754307USP9Xc.7447-2A>C (n.7447-2A>C)
c.7495-2A>C (n.7495-2A>C)
c.3685-1888A>C (n.3685-1888A>C)
c.7432-2A>C (n.7432-2A>C)
c.7279-2A>C (n.7279-2A>C)
c.6531-2A>C
c.4311-2A>C
c.3575-2A>C (n.3575-2A>C)
c.2883-2A>C (n.2883-2A>C)
c.7480-2A>C (n.7480-2A>C)
Xg.41230499A>GCA412754303USP9Xc.7447-2A>G (n.7447-2A>G)
c.7495-2A>G (n.7495-2A>G)
c.3685-1888A>G (n.3685-1888A>G)
c.7432-2A>G (n.7432-2A>G)
c.7279-2A>G (n.7279-2A>G)
c.6531-2A>G
c.4311-2A>G
c.3575-2A>G (n.3575-2A>G)
c.2883-2A>G (n.2883-2A>G)
c.7480-2A>G (n.7480-2A>G)
Xg.41230499A>TCA412754305USP9Xc.7447-2A>T (n.7447-2A>T)
c.7495-2A>T (n.7495-2A>T)
c.3685-1888A>T (n.3685-1888A>T)
c.7432-2A>T (n.7432-2A>T)
c.7279-2A>T (n.7279-2A>T)
c.6531-2A>T
c.4311-2A>T
c.3575-2A>T (n.3575-2A>T)
c.2883-2A>T (n.2883-2A>T)
c.7480-2A>T (n.7480-2A>T)
Xg.41230500G>ACA412754310USP9Xc.7447-1G>A (n.7447-1G>A)
c.7495-1G>A (n.7495-1G>A)
c.3685-1887G>A (n.3685-1887G>A)
c.7432-1G>A (n.7432-1G>A)
c.7279-1G>A (n.7279-1G>A)
c.6531-1G>A
c.4311-1G>A
c.3575-1G>A (n.3575-1G>A)
c.2883-1G>A (n.2883-1G>A)
c.7480-1G>A (n.7480-1G>A)
 COSMIC COSMIC
Xg.41230500G>CCA412754312USP9Xc.7447-1G>C (n.7447-1G>C)
c.7495-1G>C (n.7495-1G>C)
c.3685-1887G>C (n.3685-1887G>C)
c.7432-1G>C (n.7432-1G>C)
c.7279-1G>C (n.7279-1G>C)
c.6531-1G>C
c.4311-1G>C
c.3575-1G>C (n.3575-1G>C)
c.2883-1G>C (n.2883-1G>C)
c.7480-1G>C (n.7480-1G>C)
Xg.41230500G>TCA412754313USP9Xc.7447-1G>T (n.7447-1G>T)
c.7495-1G>T (n.7495-1G>T)
c.3685-1887G>T (n.3685-1887G>T)
c.7432-1G>T (n.7432-1G>T)
c.7279-1G>T (n.7279-1G>T)
c.6531-1G>T
c.4311-1G>T
c.3575-1G>T (n.3575-1G>T)
c.2883-1G>T (n.2883-1G>T)
c.7480-1G>T (n.7480-1G>T)
Xg.41230501G>ACA412754314USP9Xc.7447G>A (p.Glu2483Lys)
c.7495G>A (p.Glu2499Lys)
c.3685-1886G>A (n.3685-1886G>A)
c.7432G>A (p.Glu2478Lys)
c.7279G>A (p.Glu2427Lys)
c.6531G>A
c.4311G>A
c.3575G>A (n.3575G>A)
c.2883G>A (n.2883G>A)
c.7480G>A (p.Glu2494Lys)
Xg.41230501G>CCA412754315USP9Xc.7447G>C (p.Glu2483Gln)
c.7495G>C (p.Glu2499Gln)
c.3685-1886G>C (n.3685-1886G>C)
c.7432G>C (p.Glu2478Gln)
c.7279G>C (p.Glu2427Gln)
c.6531G>C
c.4311G>C
c.3575G>C (n.3575G>C)
c.2883G>C (n.2883G>C)
c.7480G>C (p.Glu2494Gln)
Xg.41230501G>TCA412754316USP9Xc.7447G>T (p.Glu2483Ter)
c.7495G>T (p.Glu2499Ter)
c.3685-1886G>T (n.3685-1886G>T)
c.7432G>T (p.Glu2478Ter)
c.7279G>T (p.Glu2427Ter)
c.6531G>T
c.4311G>T
c.3575G>T (n.3575G>T)
c.2883G>T (n.2883G>T)
c.7480G>T (p.Glu2494Ter)
Xg.41230502A>CCA412754317USP9Xc.7448A>C (p.Glu2483Ala)
c.7496A>C (p.Glu2499Ala)
c.3685-1885A>C (n.3685-1885A>C)
c.7433A>C (p.Glu2478Ala)
c.7280A>C (p.Glu2427Ala)
c.6532A>C
c.4312A>C
c.3576A>C (n.3576A>C)
c.2884A>C (n.2884A>C)
c.7481A>C (p.Glu2494Ala)
Xg.41230502A>GCA412754318USP9Xc.7448A>G (p.Glu2483Gly)
c.7496A>G (p.Glu2499Gly)
c.3685-1885A>G (n.3685-1885A>G)
c.7433A>G (p.Glu2478Gly)
c.7280A>G (p.Glu2427Gly)
c.6532A>G
c.4312A>G
c.3576A>G (n.3576A>G)
c.2884A>G (n.2884A>G)
c.7481A>G (p.Glu2494Gly)
Xg.41230502A>TCA412754319USP9Xc.7448A>T (p.Glu2483Val)
c.7496A>T (p.Glu2499Val)
c.3685-1885A>T (n.3685-1885A>T)
c.7433A>T (p.Glu2478Val)
c.7280A>T (p.Glu2427Val)
c.6532A>T
c.4312A>T
c.3576A>T (n.3576A>T)
c.2884A>T (n.2884A>T)
c.7481A>T (p.Glu2494Val)
Xg.41230503G>ACA515960659USP9Xc.7449G>A (p.Glu2483=)
c.7497G>A (p.Glu2499=)
c.3685-1884G>A (n.3685-1884G>A)
c.7434G>A (p.Glu2478=)
c.7281G>A (p.Glu2427=)
c.6533G>A
c.4313G>A
c.3577G>A (n.3577G>A)
c.2885G>A (n.2885G>A)
c.7482G>A (p.Glu2494=)
Xg.41230503G>CCA412754320USP9Xc.7449G>C (p.Glu2483Asp)
c.7497G>C (p.Glu2499Asp)
c.3685-1884G>C (n.3685-1884G>C)
c.7434G>C (p.Glu2478Asp)
c.7281G>C (p.Glu2427Asp)
c.6533G>C
c.4313G>C
c.3577G>C (n.3577G>C)
c.2885G>C (n.2885G>C)
c.7482G>C (p.Glu2494Asp)
Xg.41230503G>TCA412754322USP9Xc.7449G>T (p.Glu2483Asp)
c.7497G>T (p.Glu2499Asp)
c.3685-1884G>T (n.3685-1884G>T)
c.7434G>T (p.Glu2478Asp)
c.7281G>T (p.Glu2427Asp)
c.6533G>T
c.4313G>T
c.3577G>T (n.3577G>T)
c.2885G>T (n.2885G>T)
c.7482G>T (p.Glu2494Asp)
 gnomAD v4
Xg.41230504C>ACA412754329USP9Xc.7450C>A (p.Pro2484Thr)
c.7498C>A (p.Pro2500Thr)
c.3685-1883C>A (n.3685-1883C>A)
c.7435C>A (p.Pro2479Thr)
c.7282C>A (p.Pro2428Thr)
c.6534C>A
c.4314C>A
c.3578C>A (n.3578C>A)
c.2886C>A (n.2886C>A)
c.7483C>A (p.Pro2495Thr)
Xg.41230504C>GCA412754325USP9Xc.7450C>G (p.Pro2484Ala)
c.7498C>G (p.Pro2500Ala)
c.3685-1883C>G (n.3685-1883C>G)
c.7435C>G (p.Pro2479Ala)
c.7282C>G (p.Pro2428Ala)
c.6534C>G
c.4314C>G
c.3578C>G (n.3578C>G)
c.2886C>G (n.2886C>G)
c.7483C>G (p.Pro2495Ala)
Xg.41230504C>TCA412754327USP9Xc.7450C>T (p.Pro2484Ser)
c.7498C>T (p.Pro2500Ser)
c.3685-1883C>T (n.3685-1883C>T)
c.7435C>T (p.Pro2479Ser)
c.7282C>T (p.Pro2428Ser)
c.6534C>T
c.4314C>T
c.3578C>T (n.3578C>T)
c.2886C>T (n.2886C>T)
c.7483C>T (p.Pro2495Ser)
 gnomAD v4
Xg.41230505C>ACA412754336USP9Xc.7451C>A (p.Pro2484Gln)
c.7499C>A (p.Pro2500Gln)
c.3685-1882C>A (n.3685-1882C>A)
c.7436C>A (p.Pro2479Gln)
c.7283C>A (p.Pro2428Gln)
c.6535C>A
c.4315C>A
c.3579C>A (n.3579C>A)
c.2887C>A (n.2887C>A)
c.7484C>A (p.Pro2495Gln)
Xg.41230505C=CA2425838767USP9Xc.7451C= (p.Pro2484=)
c.7499C= (p.Pro2500=)
c.3685-1882C= (n.3685-1882C=)
c.7436C= (p.Pro2479=)
c.7283C= (p.Pro2428=)
c.6535C=
c.4315C=
c.3579C= (n.3579C=)
c.2887C= (n.2887C=)
c.7484C= (p.Pro2495=)
Xg.41230505C>GCA412754337USP9Xc.7451C>G (p.Pro2484Arg)
c.7499C>G (p.Pro2500Arg)
c.3685-1882C>G (n.3685-1882C>G)
c.7436C>G (p.Pro2479Arg)
c.7283C>G (p.Pro2428Arg)
c.6535C>G
c.4315C>G
c.3579C>G (n.3579C>G)
c.2887C>G (n.2887C>G)
c.7484C>G (p.Pro2495Arg)
Xg.41230505C>TCA10389227USP9Xc.7451C>T (p.Pro2484Leu)
c.7499C>T (p.Pro2500Leu)
c.3685-1882C>T (n.3685-1882C>T)
c.7436C>T (p.Pro2479Leu)
c.7283C>T (p.Pro2428Leu)
c.6535C>T
c.4315C>T
c.3579C>T (n.3579C>T)
c.2887C>T (n.2887C>T)
c.7484C>T (p.Pro2495Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41230506A>CCA515960672USP9Xc.7452A>C (p.Pro2484=)
c.7500A>C (p.Pro2500=)
c.3685-1881A>C (n.3685-1881A>C)
c.7437A>C (p.Pro2479=)
c.7284A>C (p.Pro2428=)
c.6536A>C
c.4316A>C
c.3580A>C (n.3580A>C)
c.2888A>C (n.2888A>C)
c.7485A>C (p.Pro2495=)
Xg.41230506A>GCA515960670USP9Xc.7452A>G (p.Pro2484=)
c.7500A>G (p.Pro2500=)
c.3685-1881A>G (n.3685-1881A>G)
c.7437A>G (p.Pro2479=)
c.7284A>G (p.Pro2428=)
c.6536A>G
c.4316A>G
c.3580A>G (n.3580A>G)
c.2888A>G (n.2888A>G)
c.7485A>G (p.Pro2495=)
Xg.41230506A>TCA515960668USP9Xc.7452A>T (p.Pro2484=)
c.7500A>T (p.Pro2500=)
c.3685-1881A>T (n.3685-1881A>T)
c.7437A>T (p.Pro2479=)
c.7284A>T (p.Pro2428=)
c.6536A>T
c.4316A>T
c.3580A>T (n.3580A>T)
c.2888A>T (n.2888A>T)
c.7485A>T (p.Pro2495=)
Xg.41230507G>ACA412754342USP9Xc.7453G>A (p.Asp2485Asn)
c.7501G>A (p.Asp2501Asn)
c.3685-1880G>A (n.3685-1880G>A)
c.7438G>A (p.Asp2480Asn)
c.7285G>A (p.Asp2429Asn)
c.6537G>A
c.4317G>A
c.3581G>A (n.3581G>A)
c.2889G>A (n.2889G>A)
c.7486G>A (p.Asp2496Asn)
Xg.41230507G>CCA412754345USP9Xc.7453G>C (p.Asp2485His)
c.7501G>C (p.Asp2501His)
c.3685-1880G>C (n.3685-1880G>C)
c.7438G>C (p.Asp2480His)
c.7285G>C (p.Asp2429His)
c.6537G>C
c.4317G>C
c.3581G>C (n.3581G>C)
c.2889G>C (n.2889G>C)
c.7486G>C (p.Asp2496His)
Xg.41230507G>TCA412754348USP9Xc.7453G>T (p.Asp2485Tyr)
c.7501G>T (p.Asp2501Tyr)
c.3685-1880G>T (n.3685-1880G>T)
c.7438G>T (p.Asp2480Tyr)
c.7285G>T (p.Asp2429Tyr)
c.6537G>T
c.4317G>T
c.3581G>T (n.3581G>T)
c.2889G>T (n.2889G>T)
c.7486G>T (p.Asp2496Tyr)
Xg.41230508A>CCA412754351USP9Xc.7454A>C (p.Asp2485Ala)
c.7502A>C (p.Asp2501Ala)
c.3685-1879A>C (n.3685-1879A>C)
c.7439A>C (p.Asp2480Ala)
c.7286A>C (p.Asp2429Ala)
c.6538A>C
c.4318A>C
c.3582A>C (n.3582A>C)
c.2890A>C (n.2890A>C)
c.7487A>C (p.Asp2496Ala)
 gnomAD v4
Xg.41230508A>GCA412754353USP9Xc.7454A>G (p.Asp2485Gly)
c.7502A>G (p.Asp2501Gly)
c.3685-1879A>G (n.3685-1879A>G)
c.7439A>G (p.Asp2480Gly)
c.7286A>G (p.Asp2429Gly)
c.6538A>G
c.4318A>G
c.3582A>G (n.3582A>G)
c.2890A>G (n.2890A>G)
c.7487A>G (p.Asp2496Gly)
Xg.41230508A>TCA412754355USP9Xc.7454A>T (p.Asp2485Val)
c.7502A>T (p.Asp2501Val)
c.3685-1879A>T (n.3685-1879A>T)
c.7439A>T (p.Asp2480Val)
c.7286A>T (p.Asp2429Val)
c.6538A>T
c.4318A>T
c.3582A>T (n.3582A>T)
c.2890A>T (n.2890A>T)
c.7487A>T (p.Asp2496Val)
Xg.41230509T>ACA412754357USP9Xc.7455T>A (p.Asp2485Glu)
c.7503T>A (p.Asp2501Glu)
c.3685-1878T>A (n.3685-1878T>A)
c.7440T>A (p.Asp2480Glu)
c.7287T>A (p.Asp2429Glu)
c.6539T>A
c.4319T>A
c.3583T>A (n.3583T>A)
c.2891T>A (n.2891T>A)
c.7488T>A (p.Asp2496Glu)
 gnomAD v4
Xg.41230509T>CCA515960679USP9Xc.7455T>C (p.Asp2485=)
c.7503T>C (p.Asp2501=)
c.3685-1878T>C (n.3685-1878T>C)
c.7440T>C (p.Asp2480=)
c.7287T>C (p.Asp2429=)
c.6539T>C
c.4319T>C
c.3583T>C (n.3583T>C)
c.2891T>C (n.2891T>C)
c.7488T>C (p.Asp2496=)
Xg.41230509T>GCA412754358USP9Xc.7455T>G (p.Asp2485Glu)
c.7503T>G (p.Asp2501Glu)
c.3685-1878T>G (n.3685-1878T>G)
c.7440T>G (p.Asp2480Glu)
c.7287T>G (p.Asp2429Glu)
c.6539T>G
c.4319T>G
c.3583T>G (n.3583T>G)
c.2891T>G (n.2891T>G)
c.7488T>G (p.Asp2496Glu)
Xg.41230510G>ACA412754364USP9Xc.7456G>A (p.Asp2486Asn)
c.7504G>A (p.Asp2502Asn)
c.3685-1877G>A (n.3685-1877G>A)
c.7441G>A (p.Asp2481Asn)
c.7288G>A (p.Asp2430Asn)
c.6540G>A
c.4320G>A
c.3584G>A (n.3584G>A)
c.2892G>A (n.2892G>A)
c.7489G>A (p.Asp2497Asn)
Xg.41230510G>CCA412754362USP9Xc.7456G>C (p.Asp2486His)
c.7504G>C (p.Asp2502His)
c.3685-1877G>C (n.3685-1877G>C)
c.7441G>C (p.Asp2481His)
c.7288G>C (p.Asp2430His)
c.6540G>C
c.4320G>C
c.3584G>C (n.3584G>C)
c.2892G>C (n.2892G>C)
c.7489G>C (p.Asp2497His)
Xg.41230510G>TCA412754360USP9Xc.7456G>T (p.Asp2486Tyr)
c.7504G>T (p.Asp2502Tyr)
c.3685-1877G>T (n.3685-1877G>T)
c.7441G>T (p.Asp2481Tyr)
c.7288G>T (p.Asp2430Tyr)
c.6540G>T
c.4320G>T
c.3584G>T (n.3584G>T)
c.2892G>T (n.2892G>T)
c.7489G>T (p.Asp2497Tyr)
Xg.41230511A>CCA412754369USP9Xc.7457A>C (p.Asp2486Ala)
c.7505A>C (p.Asp2502Ala)
c.3685-1876A>C (n.3685-1876A>C)
c.7442A>C (p.Asp2481Ala)
c.7289A>C (p.Asp2430Ala)
c.6541A>C
c.4321A>C
c.3585A>C (n.3585A>C)
c.2893A>C (n.2893A>C)
c.7490A>C (p.Asp2497Ala)
Xg.41230511A>GCA412754373USP9Xc.7457A>G (p.Asp2486Gly)
c.7505A>G (p.Asp2502Gly)
c.3685-1876A>G (n.3685-1876A>G)
c.7442A>G (p.Asp2481Gly)
c.7289A>G (p.Asp2430Gly)
c.6541A>G
c.4321A>G
c.3585A>G (n.3585A>G)
c.2893A>G (n.2893A>G)
c.7490A>G (p.Asp2497Gly)
Xg.41230511A>TCA412754370USP9Xc.7457A>T (p.Asp2486Val)
c.7505A>T (p.Asp2502Val)
c.3685-1876A>T (n.3685-1876A>T)
c.7442A>T (p.Asp2481Val)
c.7289A>T (p.Asp2430Val)
c.6541A>T
c.4321A>T
c.3585A>T (n.3585A>T)
c.2893A>T (n.2893A>T)
c.7490A>T (p.Asp2497Val)
Xg.41230512C>ACA412754376USP9Xc.7458C>A (p.Asp2486Glu)
c.7506C>A (p.Asp2502Glu)
c.3685-1875C>A (n.3685-1875C>A)
c.7443C>A (p.Asp2481Glu)
c.7290C>A (p.Asp2430Glu)
c.6542C>A
c.4322C>A
c.3586C>A (n.3586C>A)
c.2894C>A (n.2894C>A)
c.7491C>A (p.Asp2497Glu)
Xg.41230512C=CA2425838768USP9Xc.7458C= (p.Asp2486=)
c.7506C= (p.Asp2502=)
c.3685-1875C= (n.3685-1875C=)
c.7443C= (p.Asp2481=)
c.7290C= (p.Asp2430=)
c.6542C=
c.4322C=
c.3586C= (n.3586C=)
c.2894C= (n.2894C=)
c.7491C= (p.Asp2497=)
Xg.41230512C>GCA412754378USP9Xc.7458C>G (p.Asp2486Glu)
c.7506C>G (p.Asp2502Glu)
c.3685-1875C>G (n.3685-1875C>G)
c.7443C>G (p.Asp2481Glu)
c.7290C>G (p.Asp2430Glu)
c.6542C>G
c.4322C>G
c.3586C>G (n.3586C>G)
c.2894C>G (n.2894C>G)
c.7491C>G (p.Asp2497Glu)
 ClinVar gnomAD v4
Xg.41230512C>TCA515960687USP9Xc.7458C>T (p.Asp2486=)
c.7506C>T (p.Asp2502=)
c.3685-1875C>T (n.3685-1875C>T)
c.7443C>T (p.Asp2481=)
c.7290C>T (p.Asp2430=)
c.6542C>T
c.4322C>T
c.3586C>T (n.3586C>T)
c.2894C>T (n.2894C>T)
c.7491C>T (p.Asp2497=)
 dbSNP gnomAD v4
Xg.41230513C>ACA412754381USP9Xc.7459C>A (p.Gln2487Lys)
c.7507C>A (p.Gln2503Lys)
c.3685-1874C>A (n.3685-1874C>A)
c.7444C>A (p.Gln2482Lys)
c.7291C>A (p.Gln2431Lys)
c.6543C>A
c.4323C>A
c.3587C>A (n.3587C>A)
c.2895C>A (n.2895C>A)
c.7492C>A (p.Gln2498Lys)
Xg.41230513C>GCA412754383USP9Xc.7459C>G (p.Gln2487Glu)
c.7507C>G (p.Gln2503Glu)
c.3685-1874C>G (n.3685-1874C>G)
c.7444C>G (p.Gln2482Glu)
c.7291C>G (p.Gln2431Glu)
c.6543C>G
c.4323C>G
c.3587C>G (n.3587C>G)
c.2895C>G (n.2895C>G)
c.7492C>G (p.Gln2498Glu)
Xg.41230513C>TCA412754389USP9Xc.7459C>T (p.Gln2487Ter)
c.7507C>T (p.Gln2503Ter)
c.3685-1874C>T (n.3685-1874C>T)
c.7444C>T (p.Gln2482Ter)
c.7291C>T (p.Gln2431Ter)
c.6543C>T
c.4323C>T
c.3587C>T (n.3587C>T)
c.2895C>T (n.2895C>T)
c.7492C>T (p.Gln2498Ter)
Xg.41230514A>CCA412754393USP9Xc.7460A>C (p.Gln2487Pro)
c.7508A>C (p.Gln2503Pro)
c.3685-1873A>C (n.3685-1873A>C)
c.7445A>C (p.Gln2482Pro)
c.7292A>C (p.Gln2431Pro)
c.6544A>C
c.4324A>C
c.3588A>C (n.3588A>C)
c.2896A>C (n.2896A>C)
c.7493A>C (p.Gln2498Pro)
Xg.41230514A>GCA412754394USP9Xc.7460A>G (p.Gln2487Arg)
c.7508A>G (p.Gln2503Arg)
c.3685-1873A>G (n.3685-1873A>G)
c.7445A>G (p.Gln2482Arg)
c.7292A>G (p.Gln2431Arg)
c.6544A>G
c.4324A>G
c.3588A>G (n.3588A>G)
c.2896A>G (n.2896A>G)
c.7493A>G (p.Gln2498Arg)
Xg.41230514A>TCA412754397USP9Xc.7460A>T (p.Gln2487Leu)
c.7508A>T (p.Gln2503Leu)
c.3685-1873A>T (n.3685-1873A>T)
c.7445A>T (p.Gln2482Leu)
c.7292A>T (p.Gln2431Leu)
c.6544A>T
c.4324A>T
c.3588A>T (n.3588A>T)
c.2896A>T (n.2896A>T)
c.7493A>T (p.Gln2498Leu)

Number of alleles fetched