Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.43102513_43107537del | CA16043353 | BRCA1 | n.199-1004_505+1609del c.135-1004_441+1609del c.135-2581_363+1609del c.-7-1004_300+1609del c.-218-12677_-218-7653del (n.-218-12677_-218-7653del) c.*71-1004_*355+1609del n.378-1004_684+1609del c.*9-1004_*315+1609del c.135-1004_*227+1609del c.*71-1004_*377+1609del c.4+17645_4+22669del (n.4+17645_4+22669del) c.-44+17734_-44+22758del (n.-44+17734_-44+22758del) c.-99+17734_-99+22758del (n.-99+17734_-99+22758del) n.296-1004_580+1609del n.337-1004_621+1609del | ClinVar |
17 | g.43102515_43107739del | CA16043354 | BRCA1 | n.199-1206_505+1607del c.135-1206_441+1607del c.135-2783_363+1607del c.-7-1206_300+1607del c.-218-12879_-218-7655del (n.-218-12879_-218-7655del) c.*71-1206_*355+1607del n.378-1206_684+1607del c.*9-1206_*315+1607del c.135-1206_*227+1607del c.*71-1206_*377+1607del c.4+17443_4+22667del (n.4+17443_4+22667del) c.-44+17532_-44+22756del (n.-44+17532_-44+22756del) c.-99+17532_-99+22756del (n.-99+17532_-99+22756del) n.296-1206_580+1607del n.337-1206_621+1607del | ClinVar |
17 | g.43104069_43104088del | CA772209111 | BRCA1 | n.505+36_505+55del c.441+36_441+55del (n.441+36_441+55del) c.363+36_363+55del (n.363+36_363+55del) c.300+36_300+55del (n.300+36_300+55del) c.-218-9226_-218-9207del (n.-218-9226_-218-9207del) c.*355+36_*355+55del (n.*355+36_*355+55del) n.684+36_684+55del c.*315+36_*315+55del (n.*315+36_*315+55del) c.*227+36_*227+55del (n.*227+36_*227+55del) c.164+36_164+55del c.189+36_189+55del (n.189+36_189+55del) c.*377+36_*377+55del (n.*377+36_*377+55del) c.4+21096_4+21115del (n.4+21096_4+21115del) c.-44+21185_-44+21204del (n.-44+21185_-44+21204del) c.-99+21185_-99+21204del (n.-99+21185_-99+21204del) n.580+36_580+55del n.621+36_621+55del | dbSNP gnomAD v4 |
17 | g.43104072_43104088del | CA2638062570 | BRCA1 | n.505+35_505+51del c.441+35_441+51del (n.441+35_441+51del) c.363+35_363+51del (n.363+35_363+51del) c.300+35_300+51del (n.300+35_300+51del) c.-218-9227_-218-9211del (n.-218-9227_-218-9211del) c.*355+35_*355+51del (n.*355+35_*355+51del) n.684+35_684+51del c.*315+35_*315+51del (n.*315+35_*315+51del) c.*227+35_*227+51del (n.*227+35_*227+51del) c.164+35_164+51del c.189+35_189+51del (n.189+35_189+51del) c.*377+35_*377+51del (n.*377+35_*377+51del) c.4+21095_4+21111del (n.4+21095_4+21111del) c.-44+21184_-44+21200del (n.-44+21184_-44+21200del) c.-99+21184_-99+21200del (n.-99+21184_-99+21200del) n.580+35_580+51del n.621+35_621+51del | gnomAD v4 |
17 | g.43104071_43104089delinsAAAAAAAAAAGAAAAGAAG | CA2260790285 | BRCA1 | n.505+33_505+51delinsCTTCTTTTCTTTTTTTTTT c.441+33_441+51delinsCTTCTTTTCTTTTTTTTTT (n.441+33_441+51delinsCTTCTTTTCTTTTTTTTTT) c.363+33_363+51delinsCTTCTTTTCTTTTTTTTTT (n.363+33_363+51delinsCTTCTTTTCTTTTTTTTTT) c.300+33_300+51delinsCTTCTTTTCTTTTTTTTTT (n.300+33_300+51delinsCTTCTTTTCTTTTTTTTTT) c.-218-9229_-218-9211delinsCTTCTTTTCTTTTTTTTTT (n.-218-9229_-218-9211delinsCTTCTTTTCTTTTTTTTTT) c.*355+33_*355+51delinsCTTCTTTTCTTTTTTTTTT (n.*355+33_*355+51delinsCTTCTTTTCTTTTTTTTTT) n.684+33_684+51delinsCTTCTTTTCTTTTTTTTTT c.*315+33_*315+51delinsCTTCTTTTCTTTTTTTTTT (n.*315+33_*315+51delinsCTTCTTTTCTTTTTTTTTT) c.*227+33_*227+51delinsCTTCTTTTCTTTTTTTTTT (n.*227+33_*227+51delinsCTTCTTTTCTTTTTTTTTT) c.164+33_164+51delinsCTTCTTTTCTTTTTTTTTT c.189+33_189+51delinsCTTCTTTTCTTTTTTTTTT (n.189+33_189+51delinsCTTCTTTTCTTTTTTTTTT) c.*377+33_*377+51delinsCTTCTTTTCTTTTTTTTTT (n.*377+33_*377+51delinsCTTCTTTTCTTTTTTTTTT) c.4+21093_4+21111delinsCTTCTTTTCTTTTTTTTTT (n.4+21093_4+21111delinsCTTCTTTTCTTTTTTTTTT) c.-44+21182_-44+21200delinsCTTCTTTTCTTTTTTTTTT (n.-44+21182_-44+21200delinsCTTCTTTTCTTTTTTTTTT) c.-99+21182_-99+21200delinsCTTCTTTTCTTTTTTTTTT (n.-99+21182_-99+21200delinsCTTCTTTTCTTTTTTTTTT) n.580+33_580+51delinsCTTCTTTTCTTTTTTTTTT n.621+33_621+51delinsCTTCTTTTCTTTTTTTTTT | |
17 | g.43104071_43104092delinsAAAAAAAAAAGAAAAGAAGAAG | CA2260790286 | BRCA1 | n.505+30_505+51delinsCTTCTTCTTTTCTTTTTTTTTT c.441+30_441+51delinsCTTCTTCTTTTCTTTTTTTTTT (n.441+30_441+51delinsCTTCTTCTTTTCTTTTTTTTTT) c.363+30_363+51delinsCTTCTTCTTTTCTTTTTTTTTT (n.363+30_363+51delinsCTTCTTCTTTTCTTTTTTTTTT) c.300+30_300+51delinsCTTCTTCTTTTCTTTTTTTTTT (n.300+30_300+51delinsCTTCTTCTTTTCTTTTTTTTTT) c.-218-9232_-218-9211delinsCTTCTTCTTTTCTTTTTTTTTT (n.-218-9232_-218-9211delinsCTTCTTCTTTTCTTTTTTTTTT) c.*355+30_*355+51delinsCTTCTTCTTTTCTTTTTTTTTT (n.*355+30_*355+51delinsCTTCTTCTTTTCTTTTTTTTTT) n.684+30_684+51delinsCTTCTTCTTTTCTTTTTTTTTT c.*315+30_*315+51delinsCTTCTTCTTTTCTTTTTTTTTT (n.*315+30_*315+51delinsCTTCTTCTTTTCTTTTTTTTTT) c.*227+30_*227+51delinsCTTCTTCTTTTCTTTTTTTTTT (n.*227+30_*227+51delinsCTTCTTCTTTTCTTTTTTTTTT) c.164+30_164+51delinsCTTCTTCTTTTCTTTTTTTTTT c.189+30_189+51delinsCTTCTTCTTTTCTTTTTTTTTT (n.189+30_189+51delinsCTTCTTCTTTTCTTTTTTTTTT) c.*377+30_*377+51delinsCTTCTTCTTTTCTTTTTTTTTT (n.*377+30_*377+51delinsCTTCTTCTTTTCTTTTTTTTTT) c.4+21090_4+21111delinsCTTCTTCTTTTCTTTTTTTTTT (n.4+21090_4+21111delinsCTTCTTCTTTTCTTTTTTTTTT) c.-44+21179_-44+21200delinsCTTCTTCTTTTCTTTTTTTTTT (n.-44+21179_-44+21200delinsCTTCTTCTTTTCTTTTTTTTTT) c.-99+21179_-99+21200delinsCTTCTTCTTTTCTTTTTTTTTT (n.-99+21179_-99+21200delinsCTTCTTCTTTTCTTTTTTTTTT) n.580+30_580+51delinsCTTCTTCTTTTCTTTTTTTTTT n.621+30_621+51delinsCTTCTTCTTTTCTTTTTTTTTT | |
17 | g.43104074_43104088del | CA645509506 | BRCA1 | n.505+36_505+50del c.441+36_441+50del (n.441+36_441+50del) c.363+36_363+50del (n.363+36_363+50del) c.300+36_300+50del (n.300+36_300+50del) c.-218-9226_-218-9212del (n.-218-9226_-218-9212del) c.*355+36_*355+50del (n.*355+36_*355+50del) n.684+36_684+50del c.*315+36_*315+50del (n.*315+36_*315+50del) c.*227+36_*227+50del (n.*227+36_*227+50del) c.164+36_164+50del c.189+36_189+50del (n.189+36_189+50del) c.*377+36_*377+50del (n.*377+36_*377+50del) c.4+21096_4+21110del (n.4+21096_4+21110del) c.-44+21185_-44+21199del (n.-44+21185_-44+21199del) c.-99+21185_-99+21199del (n.-99+21185_-99+21199del) n.580+36_580+50del n.621+36_621+50del | ClinVar dbSNP gnomAD v4 |
17 | g.43104072_43104089delinsAAAAAAAAAGAAAAGAAG | CA2260790288 | BRCA1 | n.505+33_505+50delinsCTTCTTTTCTTTTTTTTT c.441+33_441+50delinsCTTCTTTTCTTTTTTTTT (n.441+33_441+50delinsCTTCTTTTCTTTTTTTTT) c.363+33_363+50delinsCTTCTTTTCTTTTTTTTT (n.363+33_363+50delinsCTTCTTTTCTTTTTTTTT) c.300+33_300+50delinsCTTCTTTTCTTTTTTTTT (n.300+33_300+50delinsCTTCTTTTCTTTTTTTTT) c.-218-9229_-218-9212delinsCTTCTTTTCTTTTTTTTT (n.-218-9229_-218-9212delinsCTTCTTTTCTTTTTTTTT) c.*355+33_*355+50delinsCTTCTTTTCTTTTTTTTT (n.*355+33_*355+50delinsCTTCTTTTCTTTTTTTTT) n.684+33_684+50delinsCTTCTTTTCTTTTTTTTT c.*315+33_*315+50delinsCTTCTTTTCTTTTTTTTT (n.*315+33_*315+50delinsCTTCTTTTCTTTTTTTTT) c.*227+33_*227+50delinsCTTCTTTTCTTTTTTTTT (n.*227+33_*227+50delinsCTTCTTTTCTTTTTTTTT) c.164+33_164+50delinsCTTCTTTTCTTTTTTTTT c.189+33_189+50delinsCTTCTTTTCTTTTTTTTT (n.189+33_189+50delinsCTTCTTTTCTTTTTTTTT) c.*377+33_*377+50delinsCTTCTTTTCTTTTTTTTT (n.*377+33_*377+50delinsCTTCTTTTCTTTTTTTTT) c.4+21093_4+21110delinsCTTCTTTTCTTTTTTTTT (n.4+21093_4+21110delinsCTTCTTTTCTTTTTTTTT) c.-44+21182_-44+21199delinsCTTCTTTTCTTTTTTTTT (n.-44+21182_-44+21199delinsCTTCTTTTCTTTTTTTTT) c.-99+21182_-99+21199delinsCTTCTTTTCTTTTTTTTT (n.-99+21182_-99+21199delinsCTTCTTTTCTTTTTTTTT) n.580+33_580+50delinsCTTCTTTTCTTTTTTTTT n.621+33_621+50delinsCTTCTTTTCTTTTTTTTT | |
17 | g.43104074_43104091del | CA919844606 | BRCA1 | n.505+33_505+50del c.441+33_441+50del (n.441+33_441+50del) c.363+33_363+50del (n.363+33_363+50del) c.300+33_300+50del (n.300+33_300+50del) c.-218-9229_-218-9212del (n.-218-9229_-218-9212del) c.*355+33_*355+50del (n.*355+33_*355+50del) n.684+33_684+50del c.*315+33_*315+50del (n.*315+33_*315+50del) c.*227+33_*227+50del (n.*227+33_*227+50del) c.164+33_164+50del c.189+33_189+50del (n.189+33_189+50del) c.*377+33_*377+50del (n.*377+33_*377+50del) c.4+21093_4+21110del (n.4+21093_4+21110del) c.-44+21182_-44+21199del (n.-44+21182_-44+21199del) c.-99+21182_-99+21199del (n.-99+21182_-99+21199del) n.580+33_580+50del n.621+33_621+50del | dbSNP |
17 | g.43104072_43104092delinsAAAAAAAAAGAAAAGAAGAAG | CA2260790287 | BRCA1 | n.505+30_505+50delinsCTTCTTCTTTTCTTTTTTTTT c.441+30_441+50delinsCTTCTTCTTTTCTTTTTTTTT (n.441+30_441+50delinsCTTCTTCTTTTCTTTTTTTTT) c.363+30_363+50delinsCTTCTTCTTTTCTTTTTTTTT (n.363+30_363+50delinsCTTCTTCTTTTCTTTTTTTTT) c.300+30_300+50delinsCTTCTTCTTTTCTTTTTTTTT (n.300+30_300+50delinsCTTCTTCTTTTCTTTTTTTTT) c.-218-9232_-218-9212delinsCTTCTTCTTTTCTTTTTTTTT (n.-218-9232_-218-9212delinsCTTCTTCTTTTCTTTTTTTTT) c.*355+30_*355+50delinsCTTCTTCTTTTCTTTTTTTTT (n.*355+30_*355+50delinsCTTCTTCTTTTCTTTTTTTTT) n.684+30_684+50delinsCTTCTTCTTTTCTTTTTTTTT c.*315+30_*315+50delinsCTTCTTCTTTTCTTTTTTTTT (n.*315+30_*315+50delinsCTTCTTCTTTTCTTTTTTTTT) c.*227+30_*227+50delinsCTTCTTCTTTTCTTTTTTTTT (n.*227+30_*227+50delinsCTTCTTCTTTTCTTTTTTTTT) c.164+30_164+50delinsCTTCTTCTTTTCTTTTTTTTT c.189+30_189+50delinsCTTCTTCTTTTCTTTTTTTTT (n.189+30_189+50delinsCTTCTTCTTTTCTTTTTTTTT) c.*377+30_*377+50delinsCTTCTTCTTTTCTTTTTTTTT (n.*377+30_*377+50delinsCTTCTTCTTTTCTTTTTTTTT) c.4+21090_4+21110delinsCTTCTTCTTTTCTTTTTTTTT (n.4+21090_4+21110delinsCTTCTTCTTTTCTTTTTTTTT) c.-44+21179_-44+21199delinsCTTCTTCTTTTCTTTTTTTTT (n.-44+21179_-44+21199delinsCTTCTTCTTTTCTTTTTTTTT) c.-99+21179_-99+21199delinsCTTCTTCTTTTCTTTTTTTTT (n.-99+21179_-99+21199delinsCTTCTTCTTTTCTTTTTTTTT) n.580+30_580+50delinsCTTCTTCTTTTCTTTTTTTTT n.621+30_621+50delinsCTTCTTCTTTTCTTTTTTTTT | |
17 | g.43104074_43104094del | CA919844605 | BRCA1 | n.505+30_505+50del c.441+30_441+50del (n.441+30_441+50del) c.363+30_363+50del (n.363+30_363+50del) c.300+30_300+50del (n.300+30_300+50del) c.-218-9232_-218-9212del (n.-218-9232_-218-9212del) c.*355+30_*355+50del (n.*355+30_*355+50del) n.684+30_684+50del c.*315+30_*315+50del (n.*315+30_*315+50del) c.*227+30_*227+50del (n.*227+30_*227+50del) c.164+30_164+50del c.189+30_189+50del (n.189+30_189+50del) c.*377+30_*377+50del (n.*377+30_*377+50del) c.4+21090_4+21110del (n.4+21090_4+21110del) c.-44+21179_-44+21199del (n.-44+21179_-44+21199del) c.-99+21179_-99+21199del (n.-99+21179_-99+21199del) n.580+30_580+50del n.621+30_621+50del | dbSNP |
17 | g.43104075_43104088del | CA8589958 | BRCA1 | n.505+36_505+49del c.441+36_441+49del (n.441+36_441+49del) c.363+36_363+49del (n.363+36_363+49del) c.300+36_300+49del (n.300+36_300+49del) c.-218-9226_-218-9213del (n.-218-9226_-218-9213del) c.*355+36_*355+49del (n.*355+36_*355+49del) n.684+36_684+49del c.*315+36_*315+49del (n.*315+36_*315+49del) c.*227+36_*227+49del (n.*227+36_*227+49del) c.164+36_164+49del c.189+36_189+49del (n.189+36_189+49del) c.*377+36_*377+49del (n.*377+36_*377+49del) c.4+21096_4+21109del (n.4+21096_4+21109del) c.-44+21185_-44+21198del (n.-44+21185_-44+21198del) c.-99+21185_-99+21198del (n.-99+21185_-99+21198del) n.580+36_580+49del n.621+36_621+49del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43104075_43104091del | CA056007 | BRCA1 | n.505+33_505+49del c.441+33_441+49del (n.441+33_441+49del) c.363+33_363+49del (n.363+33_363+49del) c.300+33_300+49del (n.300+33_300+49del) c.-218-9229_-218-9213del (n.-218-9229_-218-9213del) c.*355+33_*355+49del (n.*355+33_*355+49del) n.684+33_684+49del c.*315+33_*315+49del (n.*315+33_*315+49del) c.*227+33_*227+49del (n.*227+33_*227+49del) c.164+33_164+49del c.189+33_189+49del (n.189+33_189+49del) c.*377+33_*377+49del (n.*377+33_*377+49del) c.4+21093_4+21109del (n.4+21093_4+21109del) c.-44+21182_-44+21198del (n.-44+21182_-44+21198del) c.-99+21182_-99+21198del (n.-99+21182_-99+21198del) n.580+33_580+49del n.621+33_621+49del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43104075_43104094del | CA626081023 | BRCA1 | n.505+30_505+49del c.441+30_441+49del (n.441+30_441+49del) c.363+30_363+49del (n.363+30_363+49del) c.300+30_300+49del (n.300+30_300+49del) c.-218-9232_-218-9213del (n.-218-9232_-218-9213del) c.*355+30_*355+49del (n.*355+30_*355+49del) n.684+30_684+49del c.*315+30_*315+49del (n.*315+30_*315+49del) c.*227+30_*227+49del (n.*227+30_*227+49del) c.164+30_164+49del c.189+30_189+49del (n.189+30_189+49del) c.*377+30_*377+49del (n.*377+30_*377+49del) c.4+21090_4+21109del (n.4+21090_4+21109del) c.-44+21179_-44+21198del (n.-44+21179_-44+21198del) c.-99+21179_-99+21198del (n.-99+21179_-99+21198del) n.580+30_580+49del n.621+30_621+49del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43104073_43104116del | CA2499224607 | BRCA1 | n.505+6_505+49del c.441+6_441+49del (n.441+6_441+49del) c.363+6_363+49del (n.363+6_363+49del) c.300+6_300+49del (n.300+6_300+49del) c.-218-9256_-218-9213del (n.-218-9256_-218-9213del) c.*355+6_*355+49del (n.*355+6_*355+49del) n.684+6_684+49del c.*315+6_*315+49del (n.*315+6_*315+49del) c.*227+6_*227+49del (n.*227+6_*227+49del) c.164+6_164+49del c.189+6_189+49del (n.189+6_189+49del) c.*377+6_*377+49del (n.*377+6_*377+49del) c.4+21066_4+21109del (n.4+21066_4+21109del) c.-44+21155_-44+21198del (n.-44+21155_-44+21198del) c.-99+21155_-99+21198del (n.-99+21155_-99+21198del) n.580+6_580+49del n.621+6_621+49del | ClinVar dbSNP |
17 | g.43104074_43104089delinsAAAAAAAGAAAAGAAG | CA2260790291 | BRCA1 | n.505+33_505+48delinsCTTCTTTTCTTTTTTT c.441+33_441+48delinsCTTCTTTTCTTTTTTT (n.441+33_441+48delinsCTTCTTTTCTTTTTTT) c.363+33_363+48delinsCTTCTTTTCTTTTTTT (n.363+33_363+48delinsCTTCTTTTCTTTTTTT) c.300+33_300+48delinsCTTCTTTTCTTTTTTT (n.300+33_300+48delinsCTTCTTTTCTTTTTTT) c.-218-9229_-218-9214delinsCTTCTTTTCTTTTTTT (n.-218-9229_-218-9214delinsCTTCTTTTCTTTTTTT) c.*355+33_*355+48delinsCTTCTTTTCTTTTTTT (n.*355+33_*355+48delinsCTTCTTTTCTTTTTTT) n.684+33_684+48delinsCTTCTTTTCTTTTTTT c.*315+33_*315+48delinsCTTCTTTTCTTTTTTT (n.*315+33_*315+48delinsCTTCTTTTCTTTTTTT) c.*227+33_*227+48delinsCTTCTTTTCTTTTTTT (n.*227+33_*227+48delinsCTTCTTTTCTTTTTTT) c.164+33_164+48delinsCTTCTTTTCTTTTTTT c.189+33_189+48delinsCTTCTTTTCTTTTTTT (n.189+33_189+48delinsCTTCTTTTCTTTTTTT) c.*377+33_*377+48delinsCTTCTTTTCTTTTTTT (n.*377+33_*377+48delinsCTTCTTTTCTTTTTTT) c.4+21093_4+21108delinsCTTCTTTTCTTTTTTT (n.4+21093_4+21108delinsCTTCTTTTCTTTTTTT) c.-44+21182_-44+21197delinsCTTCTTTTCTTTTTTT (n.-44+21182_-44+21197delinsCTTCTTTTCTTTTTTT) c.-99+21182_-99+21197delinsCTTCTTTTCTTTTTTT (n.-99+21182_-99+21197delinsCTTCTTTTCTTTTTTT) n.580+33_580+48delinsCTTCTTTTCTTTTTTT n.621+33_621+48delinsCTTCTTTTCTTTTTTT | |
17 | g.43104077_43104088del | CA919844607 | BRCA1 | n.505+36_505+47del c.441+36_441+47del (n.441+36_441+47del) c.363+36_363+47del (n.363+36_363+47del) c.300+36_300+47del (n.300+36_300+47del) c.-218-9226_-218-9215del (n.-218-9226_-218-9215del) c.*355+36_*355+47del (n.*355+36_*355+47del) n.684+36_684+47del c.*315+36_*315+47del (n.*315+36_*315+47del) c.*227+36_*227+47del (n.*227+36_*227+47del) c.164+36_164+47del c.189+36_189+47del (n.189+36_189+47del) c.*377+36_*377+47del (n.*377+36_*377+47del) c.4+21096_4+21107del (n.4+21096_4+21107del) c.-44+21185_-44+21196del (n.-44+21185_-44+21196del) c.-99+21185_-99+21196del (n.-99+21185_-99+21196del) n.580+36_580+47del n.621+36_621+47del | dbSNP |
17 | g.43104075_43104089delinsAAAAAAGAAAAGAAG | CA2260790295 | BRCA1 | n.505+33_505+47delinsCTTCTTTTCTTTTTT c.441+33_441+47delinsCTTCTTTTCTTTTTT (n.441+33_441+47delinsCTTCTTTTCTTTTTT) c.363+33_363+47delinsCTTCTTTTCTTTTTT (n.363+33_363+47delinsCTTCTTTTCTTTTTT) c.300+33_300+47delinsCTTCTTTTCTTTTTT (n.300+33_300+47delinsCTTCTTTTCTTTTTT) c.-218-9229_-218-9215delinsCTTCTTTTCTTTTTT (n.-218-9229_-218-9215delinsCTTCTTTTCTTTTTT) c.*355+33_*355+47delinsCTTCTTTTCTTTTTT (n.*355+33_*355+47delinsCTTCTTTTCTTTTTT) n.684+33_684+47delinsCTTCTTTTCTTTTTT c.*315+33_*315+47delinsCTTCTTTTCTTTTTT (n.*315+33_*315+47delinsCTTCTTTTCTTTTTT) c.*227+33_*227+47delinsCTTCTTTTCTTTTTT (n.*227+33_*227+47delinsCTTCTTTTCTTTTTT) c.164+33_164+47delinsCTTCTTTTCTTTTTT c.189+33_189+47delinsCTTCTTTTCTTTTTT (n.189+33_189+47delinsCTTCTTTTCTTTTTT) c.*377+33_*377+47delinsCTTCTTTTCTTTTTT (n.*377+33_*377+47delinsCTTCTTTTCTTTTTT) c.4+21093_4+21107delinsCTTCTTTTCTTTTTT (n.4+21093_4+21107delinsCTTCTTTTCTTTTTT) c.-44+21182_-44+21196delinsCTTCTTTTCTTTTTT (n.-44+21182_-44+21196delinsCTTCTTTTCTTTTTT) c.-99+21182_-99+21196delinsCTTCTTTTCTTTTTT (n.-99+21182_-99+21196delinsCTTCTTTTCTTTTTT) n.580+33_580+47delinsCTTCTTTTCTTTTTT n.621+33_621+47delinsCTTCTTTTCTTTTTT | |
17 | g.43104077_43104091del | CA919844608 | BRCA1 | n.505+33_505+47del c.441+33_441+47del (n.441+33_441+47del) c.363+33_363+47del (n.363+33_363+47del) c.300+33_300+47del (n.300+33_300+47del) c.-218-9229_-218-9215del (n.-218-9229_-218-9215del) c.*355+33_*355+47del (n.*355+33_*355+47del) n.684+33_684+47del c.*315+33_*315+47del (n.*315+33_*315+47del) c.*227+33_*227+47del (n.*227+33_*227+47del) c.164+33_164+47del c.189+33_189+47del (n.189+33_189+47del) c.*377+33_*377+47del (n.*377+33_*377+47del) c.4+21093_4+21107del (n.4+21093_4+21107del) c.-44+21182_-44+21196del (n.-44+21182_-44+21196del) c.-99+21182_-99+21196del (n.-99+21182_-99+21196del) n.580+33_580+47del n.621+33_621+47del | dbSNP |
17 | g.43104078_43104091del | CA919844609 | BRCA1 | n.505+33_505+46del c.441+33_441+46del (n.441+33_441+46del) c.363+33_363+46del (n.363+33_363+46del) c.300+33_300+46del (n.300+33_300+46del) c.-218-9229_-218-9216del (n.-218-9229_-218-9216del) c.*355+33_*355+46del (n.*355+33_*355+46del) n.684+33_684+46del c.*315+33_*315+46del (n.*315+33_*315+46del) c.*227+33_*227+46del (n.*227+33_*227+46del) c.164+33_164+46del c.189+33_189+46del (n.189+33_189+46del) c.*377+33_*377+46del (n.*377+33_*377+46del) c.4+21093_4+21106del (n.4+21093_4+21106del) c.-44+21182_-44+21195del (n.-44+21182_-44+21195del) c.-99+21182_-99+21195del (n.-99+21182_-99+21195del) n.580+33_580+46del n.621+33_621+46del | dbSNP gnomAD v4 |
17 | g.43104084_43104088del | CA056068 | BRCA1 | n.505+41_505+45del c.441+41_441+45del (n.441+41_441+45del) c.363+41_363+45del (n.363+41_363+45del) c.300+41_300+45del (n.300+41_300+45del) c.-218-9221_-218-9217del (n.-218-9221_-218-9217del) c.*355+41_*355+45del (n.*355+41_*355+45del) n.684+41_684+45del c.*315+41_*315+45del (n.*315+41_*315+45del) c.*227+41_*227+45del (n.*227+41_*227+45del) c.164+41_164+45del c.189+41_189+45del (n.189+41_189+45del) c.*377+41_*377+45del (n.*377+41_*377+45del) c.4+21101_4+21105del (n.4+21101_4+21105del) c.-44+21190_-44+21194del (n.-44+21190_-44+21194del) c.-99+21190_-99+21194del (n.-99+21190_-99+21194del) n.580+41_580+45del n.621+41_621+45del | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.43104084_43104091del | CA919844611 | BRCA1 | n.505+36_505+43del c.441+36_441+43del (n.441+36_441+43del) c.363+36_363+43del (n.363+36_363+43del) c.300+36_300+43del (n.300+36_300+43del) c.-218-9226_-218-9219del (n.-218-9226_-218-9219del) c.*355+36_*355+43del (n.*355+36_*355+43del) n.684+36_684+43del c.*315+36_*315+43del (n.*315+36_*315+43del) c.*227+36_*227+43del (n.*227+36_*227+43del) c.164+36_164+43del c.189+36_189+43del (n.189+36_189+43del) c.*377+36_*377+43del (n.*377+36_*377+43del) c.4+21096_4+21103del (n.4+21096_4+21103del) c.-44+21185_-44+21192del (n.-44+21185_-44+21192del) c.-99+21185_-99+21192del (n.-99+21185_-99+21192del) n.580+36_580+43del n.621+36_621+43del | dbSNP |
17 | g.43104084_43104097del | CA2733912951 | BRCA1 | n.505+30_505+43del c.441+30_441+43del (n.441+30_441+43del) c.363+30_363+43del (n.363+30_363+43del) c.300+30_300+43del (n.300+30_300+43del) c.-218-9232_-218-9219del (n.-218-9232_-218-9219del) c.*355+30_*355+43del (n.*355+30_*355+43del) n.684+30_684+43del c.*315+30_*315+43del (n.*315+30_*315+43del) c.*227+30_*227+43del (n.*227+30_*227+43del) c.164+30_164+43del c.189+30_189+43del (n.189+30_189+43del) c.*377+30_*377+43del (n.*377+30_*377+43del) c.4+21090_4+21103del (n.4+21090_4+21103del) c.-44+21179_-44+21192del (n.-44+21179_-44+21192del) c.-99+21179_-99+21192del (n.-99+21179_-99+21192del) n.580+30_580+43del n.621+30_621+43del | dbSNP |
17 | g.43104082_43104088del | CA2638062595 | BRCA1 | n.505+34_505+40del c.441+34_441+40del (n.441+34_441+40del) c.363+34_363+40del (n.363+34_363+40del) c.300+34_300+40del (n.300+34_300+40del) c.-218-9228_-218-9222del (n.-218-9228_-218-9222del) c.*355+34_*355+40del (n.*355+34_*355+40del) n.684+34_684+40del c.*315+34_*315+40del (n.*315+34_*315+40del) c.*227+34_*227+40del (n.*227+34_*227+40del) c.164+34_164+40del c.189+34_189+40del (n.189+34_189+40del) c.*377+34_*377+40del (n.*377+34_*377+40del) c.4+21094_4+21100del (n.4+21094_4+21100del) c.-44+21183_-44+21189del (n.-44+21183_-44+21189del) c.-99+21183_-99+21189del (n.-99+21183_-99+21189del) n.580+34_580+40del n.621+34_621+40del | gnomAD v4 |
17 | g.43104083_43104088del | CA8589959 | BRCA1 | n.505+35_505+40del c.441+35_441+40del (n.441+35_441+40del) c.363+35_363+40del (n.363+35_363+40del) c.300+35_300+40del (n.300+35_300+40del) c.-218-9227_-218-9222del (n.-218-9227_-218-9222del) c.*355+35_*355+40del (n.*355+35_*355+40del) n.684+35_684+40del c.*315+35_*315+40del (n.*315+35_*315+40del) c.*227+35_*227+40del (n.*227+35_*227+40del) c.164+35_164+40del c.189+35_189+40del (n.189+35_189+40del) c.*377+35_*377+40del (n.*377+35_*377+40del) c.4+21095_4+21100del (n.4+21095_4+21100del) c.-44+21184_-44+21189del (n.-44+21184_-44+21189del) c.-99+21184_-99+21189del (n.-99+21184_-99+21189del) n.580+35_580+40del n.621+35_621+40del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43104082_43104089delinsAAAAGAAG | CA2260790307 | BRCA1 | n.505+33_505+40delinsCTTCTTTT c.441+33_441+40delinsCTTCTTTT (n.441+33_441+40delinsCTTCTTTT) c.363+33_363+40delinsCTTCTTTT (n.363+33_363+40delinsCTTCTTTT) c.300+33_300+40delinsCTTCTTTT (n.300+33_300+40delinsCTTCTTTT) c.-218-9229_-218-9222delinsCTTCTTTT (n.-218-9229_-218-9222delinsCTTCTTTT) c.*355+33_*355+40delinsCTTCTTTT (n.*355+33_*355+40delinsCTTCTTTT) n.684+33_684+40delinsCTTCTTTT c.*315+33_*315+40delinsCTTCTTTT (n.*315+33_*315+40delinsCTTCTTTT) c.*227+33_*227+40delinsCTTCTTTT (n.*227+33_*227+40delinsCTTCTTTT) c.164+33_164+40delinsCTTCTTTT c.189+33_189+40delinsCTTCTTTT (n.189+33_189+40delinsCTTCTTTT) c.*377+33_*377+40delinsCTTCTTTT (n.*377+33_*377+40delinsCTTCTTTT) c.4+21093_4+21100delinsCTTCTTTT (n.4+21093_4+21100delinsCTTCTTTT) c.-44+21182_-44+21189delinsCTTCTTTT (n.-44+21182_-44+21189delinsCTTCTTTT) c.-99+21182_-99+21189delinsCTTCTTTT (n.-99+21182_-99+21189delinsCTTCTTTT) n.580+33_580+40delinsCTTCTTTT n.621+33_621+40delinsCTTCTTTT | |
17 | g.43104082_43104092delinsAAAAGAAGAAG | CA2260790306 | BRCA1 | n.505+30_505+40delinsCTTCTTCTTTT c.441+30_441+40delinsCTTCTTCTTTT (n.441+30_441+40delinsCTTCTTCTTTT) c.363+30_363+40delinsCTTCTTCTTTT (n.363+30_363+40delinsCTTCTTCTTTT) c.300+30_300+40delinsCTTCTTCTTTT (n.300+30_300+40delinsCTTCTTCTTTT) c.-218-9232_-218-9222delinsCTTCTTCTTTT (n.-218-9232_-218-9222delinsCTTCTTCTTTT) c.*355+30_*355+40delinsCTTCTTCTTTT (n.*355+30_*355+40delinsCTTCTTCTTTT) n.684+30_684+40delinsCTTCTTCTTTT c.*315+30_*315+40delinsCTTCTTCTTTT (n.*315+30_*315+40delinsCTTCTTCTTTT) c.*227+30_*227+40delinsCTTCTTCTTTT (n.*227+30_*227+40delinsCTTCTTCTTTT) c.164+30_164+40delinsCTTCTTCTTTT c.189+30_189+40delinsCTTCTTCTTTT (n.189+30_189+40delinsCTTCTTCTTTT) c.*377+30_*377+40delinsCTTCTTCTTTT (n.*377+30_*377+40delinsCTTCTTCTTTT) c.4+21090_4+21100delinsCTTCTTCTTTT (n.4+21090_4+21100delinsCTTCTTCTTTT) c.-44+21179_-44+21189delinsCTTCTTCTTTT (n.-44+21179_-44+21189delinsCTTCTTCTTTT) c.-99+21179_-99+21189delinsCTTCTTCTTTT (n.-99+21179_-99+21189delinsCTTCTTCTTTT) n.580+30_580+40delinsCTTCTTCTTTT n.621+30_621+40delinsCTTCTTCTTTT | |
17 | g.43104085_43104088del | CA919844612 | BRCA1 | n.505+36_505+39del c.441+36_441+39del (n.441+36_441+39del) c.363+36_363+39del (n.363+36_363+39del) c.300+36_300+39del (n.300+36_300+39del) c.-218-9226_-218-9223del (n.-218-9226_-218-9223del) c.*355+36_*355+39del (n.*355+36_*355+39del) n.684+36_684+39del c.*315+36_*315+39del (n.*315+36_*315+39del) c.*227+36_*227+39del (n.*227+36_*227+39del) c.164+36_164+39del c.189+36_189+39del (n.189+36_189+39del) c.*377+36_*377+39del (n.*377+36_*377+39del) c.4+21096_4+21099del (n.4+21096_4+21099del) c.-44+21185_-44+21188del (n.-44+21185_-44+21188del) c.-99+21185_-99+21188del (n.-99+21185_-99+21188del) n.580+36_580+39del n.621+36_621+39del | dbSNP |
17 | g.43104085_43104091del | CA919844614 | BRCA1 | n.505+33_505+39del c.441+33_441+39del (n.441+33_441+39del) c.363+33_363+39del (n.363+33_363+39del) c.300+33_300+39del (n.300+33_300+39del) c.-218-9229_-218-9223del (n.-218-9229_-218-9223del) c.*355+33_*355+39del (n.*355+33_*355+39del) n.684+33_684+39del c.*315+33_*315+39del (n.*315+33_*315+39del) c.*227+33_*227+39del (n.*227+33_*227+39del) c.164+33_164+39del c.189+33_189+39del (n.189+33_189+39del) c.*377+33_*377+39del (n.*377+33_*377+39del) c.4+21093_4+21099del (n.4+21093_4+21099del) c.-44+21182_-44+21188del (n.-44+21182_-44+21188del) c.-99+21182_-99+21188del (n.-99+21182_-99+21188del) n.580+33_580+39del n.621+33_621+39del | ClinVar dbSNP |
17 | g.43104083_43104092delinsAAAGAAGAAG | CA2260790308 | BRCA1 | n.505+30_505+39delinsCTTCTTCTTT c.441+30_441+39delinsCTTCTTCTTT (n.441+30_441+39delinsCTTCTTCTTT) c.363+30_363+39delinsCTTCTTCTTT (n.363+30_363+39delinsCTTCTTCTTT) c.300+30_300+39delinsCTTCTTCTTT (n.300+30_300+39delinsCTTCTTCTTT) c.-218-9232_-218-9223delinsCTTCTTCTTT (n.-218-9232_-218-9223delinsCTTCTTCTTT) c.*355+30_*355+39delinsCTTCTTCTTT (n.*355+30_*355+39delinsCTTCTTCTTT) n.684+30_684+39delinsCTTCTTCTTT c.*315+30_*315+39delinsCTTCTTCTTT (n.*315+30_*315+39delinsCTTCTTCTTT) c.*227+30_*227+39delinsCTTCTTCTTT (n.*227+30_*227+39delinsCTTCTTCTTT) c.164+30_164+39delinsCTTCTTCTTT c.189+30_189+39delinsCTTCTTCTTT (n.189+30_189+39delinsCTTCTTCTTT) c.*377+30_*377+39delinsCTTCTTCTTT (n.*377+30_*377+39delinsCTTCTTCTTT) c.4+21090_4+21099delinsCTTCTTCTTT (n.4+21090_4+21099delinsCTTCTTCTTT) c.-44+21179_-44+21188delinsCTTCTTCTTT (n.-44+21179_-44+21188delinsCTTCTTCTTT) c.-99+21179_-99+21188delinsCTTCTTCTTT (n.-99+21179_-99+21188delinsCTTCTTCTTT) n.580+30_580+39delinsCTTCTTCTTT n.621+30_621+39delinsCTTCTTCTTT | |
17 | g.43104085_43104094del | CA919844613 | BRCA1 | n.505+30_505+39del c.441+30_441+39del (n.441+30_441+39del) c.363+30_363+39del (n.363+30_363+39del) c.300+30_300+39del (n.300+30_300+39del) c.-218-9232_-218-9223del (n.-218-9232_-218-9223del) c.*355+30_*355+39del (n.*355+30_*355+39del) n.684+30_684+39del c.*315+30_*315+39del (n.*315+30_*315+39del) c.*227+30_*227+39del (n.*227+30_*227+39del) c.164+30_164+39del c.189+30_189+39del (n.189+30_189+39del) c.*377+30_*377+39del (n.*377+30_*377+39del) c.4+21090_4+21099del (n.4+21090_4+21099del) c.-44+21179_-44+21188del (n.-44+21179_-44+21188del) c.-99+21179_-99+21188del (n.-99+21179_-99+21188del) n.580+30_580+39del n.621+30_621+39del | dbSNP |
17 | g.43104104_43104106dup | CA8589960 | BRCA1 | n.505+36_505+38dup c.441+36_441+38dup (n.441+36_441+38dup) c.363+36_363+38dup (n.363+36_363+38dup) c.300+36_300+38dup (n.300+36_300+38dup) c.-218-9226_-218-9224dup (n.-218-9226_-218-9224dup) c.*355+36_*355+38dup (n.*355+36_*355+38dup) n.684+36_684+38dup c.*315+36_*315+38dup (n.*315+36_*315+38dup) c.*227+36_*227+38dup (n.*227+36_*227+38dup) c.164+36_164+38dup c.189+36_189+38dup (n.189+36_189+38dup) c.*377+36_*377+38dup (n.*377+36_*377+38dup) c.4+21096_4+21098dup (n.4+21096_4+21098dup) c.-44+21185_-44+21187dup (n.-44+21185_-44+21187dup) c.-99+21185_-99+21187dup (n.-99+21185_-99+21187dup) n.580+36_580+38dup n.621+36_621+38dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43104101_43104106dup | CA626081030 | BRCA1 | n.505+33_505+38dup c.441+33_441+38dup (n.441+33_441+38dup) c.363+33_363+38dup (n.363+33_363+38dup) c.300+33_300+38dup (n.300+33_300+38dup) c.-218-9229_-218-9224dup (n.-218-9229_-218-9224dup) c.*355+33_*355+38dup (n.*355+33_*355+38dup) n.684+33_684+38dup c.*315+33_*315+38dup (n.*315+33_*315+38dup) c.*227+33_*227+38dup (n.*227+33_*227+38dup) c.164+33_164+38dup c.189+33_189+38dup (n.189+33_189+38dup) c.*377+33_*377+38dup (n.*377+33_*377+38dup) c.4+21093_4+21098dup (n.4+21093_4+21098dup) c.-44+21182_-44+21187dup (n.-44+21182_-44+21187dup) c.-99+21182_-99+21187dup (n.-99+21182_-99+21187dup) n.580+33_580+38dup n.621+33_621+38dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43104098_43104106dup | CA2638062600 | BRCA1 | n.505+30_505+38dup c.441+30_441+38dup (n.441+30_441+38dup) c.363+30_363+38dup (n.363+30_363+38dup) c.300+30_300+38dup (n.300+30_300+38dup) c.-218-9232_-218-9224dup (n.-218-9232_-218-9224dup) c.*355+30_*355+38dup (n.*355+30_*355+38dup) n.684+30_684+38dup c.*315+30_*315+38dup (n.*315+30_*315+38dup) c.*227+30_*227+38dup (n.*227+30_*227+38dup) c.164+30_164+38dup c.189+30_189+38dup (n.189+30_189+38dup) c.*377+30_*377+38dup (n.*377+30_*377+38dup) c.4+21090_4+21098dup (n.4+21090_4+21098dup) c.-44+21179_-44+21187dup (n.-44+21179_-44+21187dup) c.-99+21179_-99+21187dup (n.-99+21179_-99+21187dup) n.580+30_580+38dup n.621+30_621+38dup | gnomAD v4 |
17 | g.43104104_43104106del | CA002830 | BRCA1 | n.505+36_505+38del c.441+36_441+38del (n.441+36_441+38del) c.363+36_363+38del (n.363+36_363+38del) c.300+36_300+38del (n.300+36_300+38del) c.-218-9226_-218-9224del (n.-218-9226_-218-9224del) c.*355+36_*355+38del (n.*355+36_*355+38del) n.684+36_684+38del c.*315+36_*315+38del (n.*315+36_*315+38del) c.*227+36_*227+38del (n.*227+36_*227+38del) c.164+36_164+38del c.189+36_189+38del (n.189+36_189+38del) c.*377+36_*377+38del (n.*377+36_*377+38del) c.4+21096_4+21098del (n.4+21096_4+21098del) c.-44+21185_-44+21187del (n.-44+21185_-44+21187del) c.-99+21185_-99+21187del (n.-99+21185_-99+21187del) n.580+36_580+38del n.621+36_621+38del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43104101_43104106del | CA055987 | BRCA1 | n.505+33_505+38del c.441+33_441+38del (n.441+33_441+38del) c.363+33_363+38del (n.363+33_363+38del) c.300+33_300+38del (n.300+33_300+38del) c.-218-9229_-218-9224del (n.-218-9229_-218-9224del) c.*355+33_*355+38del (n.*355+33_*355+38del) n.684+33_684+38del c.*315+33_*315+38del (n.*315+33_*315+38del) c.*227+33_*227+38del (n.*227+33_*227+38del) c.164+33_164+38del c.189+33_189+38del (n.189+33_189+38del) c.*377+33_*377+38del (n.*377+33_*377+38del) c.4+21093_4+21098del (n.4+21093_4+21098del) c.-44+21182_-44+21187del (n.-44+21182_-44+21187del) c.-99+21182_-99+21187del (n.-99+21182_-99+21187del) n.580+33_580+38del n.621+33_621+38del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43104098_43104106del | CA919844615 | BRCA1 | n.505+30_505+38del c.441+30_441+38del (n.441+30_441+38del) c.363+30_363+38del (n.363+30_363+38del) c.300+30_300+38del (n.300+30_300+38del) c.-218-9232_-218-9224del (n.-218-9232_-218-9224del) c.*355+30_*355+38del (n.*355+30_*355+38del) n.684+30_684+38del c.*315+30_*315+38del (n.*315+30_*315+38del) c.*227+30_*227+38del (n.*227+30_*227+38del) c.164+30_164+38del c.189+30_189+38del (n.189+30_189+38del) c.*377+30_*377+38del (n.*377+30_*377+38del) c.4+21090_4+21098del (n.4+21090_4+21098del) c.-44+21179_-44+21187del (n.-44+21179_-44+21187del) c.-99+21179_-99+21187del (n.-99+21179_-99+21187del) n.580+30_580+38del n.621+30_621+38del | dbSNP gnomAD v4 |
17 | g.43104095_43104106del | CA2638062601 | BRCA1 | n.505+27_505+38del c.441+27_441+38del (n.441+27_441+38del) c.363+27_363+38del (n.363+27_363+38del) c.300+27_300+38del (n.300+27_300+38del) c.-218-9235_-218-9224del (n.-218-9235_-218-9224del) c.*355+27_*355+38del (n.*355+27_*355+38del) n.684+27_684+38del c.*315+27_*315+38del (n.*315+27_*315+38del) c.*227+27_*227+38del (n.*227+27_*227+38del) c.164+27_164+38del c.189+27_189+38del (n.189+27_189+38del) c.*377+27_*377+38del (n.*377+27_*377+38del) c.4+21087_4+21098del (n.4+21087_4+21098del) c.-44+21176_-44+21187del (n.-44+21176_-44+21187del) c.-99+21176_-99+21187del (n.-99+21176_-99+21187del) n.580+27_580+38del n.621+27_621+38del | gnomAD v4 |
17 | g.43104086_43104093del | CA2733912956 | BRCA1 | n.505+30_505+37del c.441+30_441+37del (n.441+30_441+37del) c.363+30_363+37del (n.363+30_363+37del) c.300+30_300+37del (n.300+30_300+37del) c.-218-9232_-218-9225del (n.-218-9232_-218-9225del) c.*355+30_*355+37del (n.*355+30_*355+37del) n.684+30_684+37del c.*315+30_*315+37del (n.*315+30_*315+37del) c.*227+30_*227+37del (n.*227+30_*227+37del) c.164+30_164+37del c.189+30_189+37del (n.189+30_189+37del) c.*377+30_*377+37del (n.*377+30_*377+37del) c.4+21090_4+21097del (n.4+21090_4+21097del) c.-44+21179_-44+21186del (n.-44+21179_-44+21186del) c.-99+21179_-99+21186del (n.-99+21179_-99+21186del) n.580+30_580+37del n.621+30_621+37del | dbSNP |
17 | g.43104086_43104091delinsGAAGAA | CA2260790313 | BRCA1 | n.505+31_505+36delinsTTCTTC c.441+31_441+36delinsTTCTTC (n.441+31_441+36delinsTTCTTC) c.363+31_363+36delinsTTCTTC (n.363+31_363+36delinsTTCTTC) c.300+31_300+36delinsTTCTTC (n.300+31_300+36delinsTTCTTC) c.-218-9231_-218-9226delinsTTCTTC (n.-218-9231_-218-9226delinsTTCTTC) c.*355+31_*355+36delinsTTCTTC (n.*355+31_*355+36delinsTTCTTC) n.684+31_684+36delinsTTCTTC c.*315+31_*315+36delinsTTCTTC (n.*315+31_*315+36delinsTTCTTC) c.*227+31_*227+36delinsTTCTTC (n.*227+31_*227+36delinsTTCTTC) c.164+31_164+36delinsTTCTTC c.189+31_189+36delinsTTCTTC (n.189+31_189+36delinsTTCTTC) c.*377+31_*377+36delinsTTCTTC (n.*377+31_*377+36delinsTTCTTC) c.4+21091_4+21096delinsTTCTTC (n.4+21091_4+21096delinsTTCTTC) c.-44+21180_-44+21185delinsTTCTTC (n.-44+21180_-44+21185delinsTTCTTC) c.-99+21180_-99+21185delinsTTCTTC (n.-99+21180_-99+21185delinsTTCTTC) n.580+31_580+36delinsTTCTTC n.621+31_621+36delinsTTCTTC | |
17 | g.43104087_43104088del | CA2638062605 | BRCA1 | n.505+34_505+35del c.441+34_441+35del (n.441+34_441+35del) c.363+34_363+35del (n.363+34_363+35del) c.300+34_300+35del (n.300+34_300+35del) c.-218-9228_-218-9227del (n.-218-9228_-218-9227del) c.*355+34_*355+35del (n.*355+34_*355+35del) n.684+34_684+35del c.*315+34_*315+35del (n.*315+34_*315+35del) c.*227+34_*227+35del (n.*227+34_*227+35del) c.164+34_164+35del c.189+34_189+35del (n.189+34_189+35del) c.*377+34_*377+35del (n.*377+34_*377+35del) c.4+21094_4+21095del (n.4+21094_4+21095del) c.-44+21183_-44+21184del (n.-44+21183_-44+21184del) c.-99+21183_-99+21184del (n.-99+21183_-99+21184del) n.580+34_580+35del n.621+34_621+35del | gnomAD v4 |
17 | g.43104087_43104088dup | CA2260790314 | BRCA1 | n.505+34_505+35dup c.441+34_441+35dup (n.441+34_441+35dup) c.363+34_363+35dup (n.363+34_363+35dup) c.300+34_300+35dup (n.300+34_300+35dup) c.-218-9228_-218-9227dup (n.-218-9228_-218-9227dup) c.*355+34_*355+35dup (n.*355+34_*355+35dup) n.684+34_684+35dup c.*315+34_*315+35dup (n.*315+34_*315+35dup) c.*227+34_*227+35dup (n.*227+34_*227+35dup) c.164+34_164+35dup c.189+34_189+35dup (n.189+34_189+35dup) c.*377+34_*377+35dup (n.*377+34_*377+35dup) c.4+21094_4+21095dup (n.4+21094_4+21095dup) c.-44+21183_-44+21184dup (n.-44+21183_-44+21184dup) c.-99+21183_-99+21184dup (n.-99+21183_-99+21184dup) n.580+34_580+35dup n.621+34_621+35dup | dbSNP gnomAD v4 |
17 | g.43104088del | CA2638062604 | BRCA1 | n.505+35del c.441+35del (n.441+35del) c.363+35del (n.363+35del) c.300+35del (n.300+35del) c.-218-9227del (n.-218-9227del) c.*355+35del (n.*355+35del) n.684+35del c.*315+35del (n.*315+35del) c.*227+35del (n.*227+35del) c.164+35del c.189+35del (n.189+35del) c.*377+35del (n.*377+35del) c.4+21095del (n.4+21095del) c.-44+21184del (n.-44+21184del) c.-99+21184del (n.-99+21184del) n.580+35del n.621+35del | gnomAD v4 |
17 | g.43104087_43104091del | CA055979 | BRCA1 | n.505+31_505+35del c.441+31_441+35del (n.441+31_441+35del) c.363+31_363+35del (n.363+31_363+35del) c.300+31_300+35del (n.300+31_300+35del) c.-218-9231_-218-9227del (n.-218-9231_-218-9227del) c.*355+31_*355+35del (n.*355+31_*355+35del) n.684+31_684+35del c.*315+31_*315+35del (n.*315+31_*315+35del) c.*227+31_*227+35del (n.*227+31_*227+35del) c.164+31_164+35del c.189+31_189+35del (n.189+31_189+35del) c.*377+31_*377+35del (n.*377+31_*377+35del) c.4+21091_4+21095del (n.4+21091_4+21095del) c.-44+21180_-44+21184del (n.-44+21180_-44+21184del) c.-99+21180_-99+21184del (n.-99+21180_-99+21184del) n.580+31_580+35del n.621+31_621+35del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43104088A= | CA2260790317 | BRCA1 | n.505+34T= c.441+34T= (n.441+34T=) c.363+34T= (n.363+34T=) c.300+34T= (n.300+34T=) c.-218-9228T= (n.-218-9228T=) c.*355+34T= (n.*355+34T=) n.684+34T= c.*315+34T= (n.*315+34T=) c.*227+34T= (n.*227+34T=) c.164+34T= c.189+34T= (n.189+34T=) c.*377+34T= (n.*377+34T=) c.4+21094T= (n.4+21094T=) c.-44+21183T= (n.-44+21183T=) c.-99+21183T= (n.-99+21183T=) n.580+34T= n.621+34T= | |
17 | g.43104088A>T | CA2638062606 | BRCA1 | n.505+34T>A c.441+34T>A (n.441+34T>A) c.363+34T>A (n.363+34T>A) c.300+34T>A (n.300+34T>A) c.-218-9228T>A (n.-218-9228T>A) c.*355+34T>A (n.*355+34T>A) n.684+34T>A c.*315+34T>A (n.*315+34T>A) c.*227+34T>A (n.*227+34T>A) c.164+34T>A c.189+34T>A (n.189+34T>A) c.*377+34T>A (n.*377+34T>A) c.4+21094T>A (n.4+21094T>A) c.-44+21183T>A (n.-44+21183T>A) c.-99+21183T>A (n.-99+21183T>A) n.580+34T>A n.621+34T>A | gnomAD v4 |
17 | g.43104088_43104089delinsAG | CA2260790316 | BRCA1 | n.505+33_505+34delinsCT c.441+33_441+34delinsCT (n.441+33_441+34delinsCT) c.363+33_363+34delinsCT (n.363+33_363+34delinsCT) c.300+33_300+34delinsCT (n.300+33_300+34delinsCT) c.-218-9229_-218-9228delinsCT (n.-218-9229_-218-9228delinsCT) c.*355+33_*355+34delinsCT (n.*355+33_*355+34delinsCT) n.684+33_684+34delinsCT c.*315+33_*315+34delinsCT (n.*315+33_*315+34delinsCT) c.*227+33_*227+34delinsCT (n.*227+33_*227+34delinsCT) c.164+33_164+34delinsCT c.189+33_189+34delinsCT (n.189+33_189+34delinsCT) c.*377+33_*377+34delinsCT (n.*377+33_*377+34delinsCT) c.4+21093_4+21094delinsCT (n.4+21093_4+21094delinsCT) c.-44+21182_-44+21183delinsCT (n.-44+21182_-44+21183delinsCT) c.-99+21182_-99+21183delinsCT (n.-99+21182_-99+21183delinsCT) n.580+33_580+34delinsCT n.621+33_621+34delinsCT | |
17 | g.43104088_43104089insAAG | CA919844617 | BRCA1 | n.505+33_505+34insCTT c.441+33_441+34insCTT (n.441+33_441+34insCTT) c.363+33_363+34insCTT (n.363+33_363+34insCTT) c.300+33_300+34insCTT (n.300+33_300+34insCTT) c.-218-9229_-218-9228insCTT (n.-218-9229_-218-9228insCTT) c.*355+33_*355+34insCTT (n.*355+33_*355+34insCTT) n.684+33_684+34insCTT c.*315+33_*315+34insCTT (n.*315+33_*315+34insCTT) c.*227+33_*227+34insCTT (n.*227+33_*227+34insCTT) c.164+33_164+34insCTT c.189+33_189+34insCTT (n.189+33_189+34insCTT) c.*377+33_*377+34insCTT (n.*377+33_*377+34insCTT) c.4+21093_4+21094insCTT (n.4+21093_4+21094insCTT) c.-44+21182_-44+21183insCTT (n.-44+21182_-44+21183insCTT) c.-99+21182_-99+21183insCTT (n.-99+21182_-99+21183insCTT) n.580+33_580+34insCTT n.621+33_621+34insCTT | dbSNP |
17 | g.43104089del | CA2260790318 | BRCA1 | n.505+33del c.441+33del (n.441+33del) c.363+33del (n.363+33del) c.300+33del (n.300+33del) c.-218-9229del (n.-218-9229del) c.*355+33del (n.*355+33del) n.684+33del c.*315+33del (n.*315+33del) c.*227+33del (n.*227+33del) c.164+33del c.189+33del (n.189+33del) c.*377+33del (n.*377+33del) c.4+21093del (n.4+21093del) c.-44+21182del (n.-44+21182del) c.-99+21182del (n.-99+21182del) n.580+33del n.621+33del | dbSNP gnomAD v4 |
17 | g.43104089G>A | CA2638062607 | BRCA1 | n.505+33C>T c.441+33C>T (n.441+33C>T) c.363+33C>T (n.363+33C>T) c.300+33C>T (n.300+33C>T) c.-218-9229C>T (n.-218-9229C>T) c.*355+33C>T (n.*355+33C>T) n.684+33C>T c.*315+33C>T (n.*315+33C>T) c.*227+33C>T (n.*227+33C>T) c.164+33C>T c.189+33C>T (n.189+33C>T) c.*377+33C>T (n.*377+33C>T) c.4+21093C>T (n.4+21093C>T) c.-44+21182C>T (n.-44+21182C>T) c.-99+21182C>T (n.-99+21182C>T) n.580+33C>T n.621+33C>T | dbSNP gnomAD v4 |