Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.43092911_43092912del | CA913190418 | BRCA1 | n.2684_2685del c.2620_2621del (p.Asn874SerfsTer28) c.2494_2495del (p.Asn832SerfsTer28) c.2617_2618del (p.Asn873SerfsTer28) c.2542_2543del (p.Asn848SerfsTer28) c.784+1833_784+1834del (n.784+1833_784+1834del) c.646+1833_646+1834del (n.646+1833_646+1834del) c.1732_1733del (p.Asn578SerfsTer28) c.2497_2498del (p.Asn833SerfsTer28) c.2479_2480del (p.Asn827SerfsTer28) c.664+1833_664+1834del (n.664+1833_664+1834del) c.706+1833_706+1834del (n.706+1833_706+1834del) c.671-1879_671-1878del (n.671-1879_671-1878del) c.*2403_*2404del (n.*2403_*2404del) c.787+1833_787+1834del (n.787+1833_787+1834del) c.409+1833_409+1834del (n.409+1833_409+1834del) c.412+1833_412+1834del (n.412+1833_412+1834del) c.5-28960_5-28959del (n.5-28960_5-28959del) c.-43-18390_-43-18389del (n.-43-18390_-43-18389del) c.-99+32360_-99+32361del (n.-99+32360_-99+32361del) n.2756_2757del n.2797_2798del | ClinVar dbSNP |
17 | g.43092912dup | CA2573154019 | BRCA1 | n.2685dup c.2621dup (p.Asn874LysfsTer29) c.2495dup (p.Asn832LysfsTer29) c.2618dup (p.Asn873LysfsTer29) c.2543dup (p.Asn848LysfsTer29) c.784+1834dup (n.784+1834dup) c.646+1834dup (n.646+1834dup) c.1733dup (p.Asn578LysfsTer29) c.2498dup (p.Asn833LysfsTer29) c.2480dup (p.Asn827LysfsTer29) c.664+1834dup (n.664+1834dup) c.706+1834dup (n.706+1834dup) c.671-1878dup (n.671-1878dup) c.*2404dup (n.*2404dup) c.787+1834dup (n.787+1834dup) c.409+1834dup (n.409+1834dup) c.412+1834dup (n.412+1834dup) c.5-28959dup (n.5-28959dup) c.-43-18389dup (n.-43-18389dup) c.-99+32361dup (n.-99+32361dup) n.2757dup n.2798dup | ClinVar dbSNP |
17 | g.43092912del | CA001724 | BRCA1 | n.2685del c.2621del (p.Asn874IlefsTer19) c.2495del (p.Asn832IlefsTer19) c.2618del (p.Asn873IlefsTer19) c.2543del (p.Asn848IlefsTer19) c.784+1834del (n.784+1834del) c.646+1834del (n.646+1834del) c.1733del (p.Asn578IlefsTer19) c.2498del (p.Asn833IlefsTer19) c.2480del (p.Asn827IlefsTer19) c.664+1834del (n.664+1834del) c.706+1834del (n.706+1834del) c.671-1878del (n.671-1878del) c.*2404del (n.*2404del) c.787+1834del (n.787+1834del) c.409+1834del (n.409+1834del) c.412+1834del (n.412+1834del) c.5-28959del (n.5-28959del) c.-43-18389del (n.-43-18389del) c.-99+32361del (n.-99+32361del) n.2757del n.2798del | ClinVar dbSNP |