Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.43092207dupCA002151BRCA1n.3393dup
c.3329dup (p.Gln1111AlafsTer4)
c.3203dup (p.Gln1069AlafsTer4)
c.3326dup (p.Gln1110AlafsTer4)
c.3251dup (p.Gln1085AlafsTer4)
c.785-1170dup (n.785-1170dup)
c.647-1170dup (n.647-1170dup)
c.2441dup (p.Gln815AlafsTer4)
c.3206dup (p.Gln1070AlafsTer4)
c.3188dup (p.Gln1064AlafsTer4)
c.665-1170dup (n.665-1170dup)
c.707-1170dup (n.707-1170dup)
c.671-1170dup (n.671-1170dup)
c.*3112dup (n.*3112dup)
c.788-1170dup (n.788-1170dup)
c.410-1170dup (n.410-1170dup)
c.413-1170dup (n.413-1170dup)
c.5-28251dup (n.5-28251dup)
c.-43-17681dup (n.-43-17681dup)
c.-99+33069dup (n.-99+33069dup)
n.3465dup
n.3506dup
 ClinVar dbSNP
17g.43092206_43092207dupCA919844519BRCA1n.3392_3393dup
c.3328_3329dup (p.Gln1111SerfsTer7)
c.3202_3203dup (p.Gln1069SerfsTer7)
c.3325_3326dup (p.Gln1110SerfsTer7)
c.3250_3251dup (p.Gln1085SerfsTer7)
c.785-1171_785-1170dup (n.785-1171_785-1170dup)
c.647-1171_647-1170dup (n.647-1171_647-1170dup)
c.2440_2441dup (p.Gln815SerfsTer7)
c.3205_3206dup (p.Gln1070SerfsTer7)
c.3187_3188dup (p.Gln1064SerfsTer7)
c.665-1171_665-1170dup (n.665-1171_665-1170dup)
c.707-1171_707-1170dup (n.707-1171_707-1170dup)
c.671-1171_671-1170dup (n.671-1171_671-1170dup)
c.*3111_*3112dup (n.*3111_*3112dup)
c.788-1171_788-1170dup (n.788-1171_788-1170dup)
c.410-1171_410-1170dup (n.410-1171_410-1170dup)
c.413-1171_413-1170dup (n.413-1171_413-1170dup)
c.5-28252_5-28251dup (n.5-28252_5-28251dup)
c.-43-17682_-43-17681dup (n.-43-17682_-43-17681dup)
c.-99+33068_-99+33069dup (n.-99+33068_-99+33069dup)
n.3464_3465dup
n.3505_3506dup
 ClinVar dbSNP
17g.43092205_43092207delCA002145BRCA1n.3391_3393del
c.3327_3329del (p.Lys1110del)
c.3201_3203del (p.Lys1068del)
c.3324_3326del (p.Lys1109del)
c.3249_3251del (p.Lys1084del)
c.785-1172_785-1170del (n.785-1172_785-1170del)
c.647-1172_647-1170del (n.647-1172_647-1170del)
c.2439_2441del (p.Lys814del)
c.3204_3206del (p.Lys1069del)
c.3186_3188del (p.Lys1063del)
c.665-1172_665-1170del (n.665-1172_665-1170del)
c.707-1172_707-1170del (n.707-1172_707-1170del)
c.671-1172_671-1170del (n.671-1172_671-1170del)
c.*3110_*3112del (n.*3110_*3112del)
c.788-1172_788-1170del (n.788-1172_788-1170del)
c.410-1172_410-1170del (n.410-1172_410-1170del)
c.413-1172_413-1170del (n.413-1172_413-1170del)
c.5-28253_5-28251del (n.5-28253_5-28251del)
c.-43-17683_-43-17681del (n.-43-17683_-43-17681del)
c.-99+33067_-99+33069del (n.-99+33067_-99+33069del)
n.3463_3465del
n.3504_3506del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43092203_43092207delCA002143BRCA1n.3389_3393del
c.3325_3329del (p.Lys1109AlafsTer4)
c.3199_3203del (p.Lys1067AlafsTer4)
c.3322_3326del (p.Lys1108AlafsTer4)
c.3247_3251del (p.Lys1083AlafsTer4)
c.785-1174_785-1170del (n.785-1174_785-1170del)
c.647-1174_647-1170del (n.647-1174_647-1170del)
c.2437_2441del (p.Lys813AlafsTer4)
c.3202_3206del (p.Lys1068AlafsTer4)
c.3184_3188del (p.Lys1062AlafsTer4)
c.665-1174_665-1170del (n.665-1174_665-1170del)
c.707-1174_707-1170del (n.707-1174_707-1170del)
c.671-1174_671-1170del (n.671-1174_671-1170del)
c.*3108_*3112del (n.*3108_*3112del)
c.788-1174_788-1170del (n.788-1174_788-1170del)
c.410-1174_410-1170del (n.410-1174_410-1170del)
c.413-1174_413-1170del (n.413-1174_413-1170del)
c.5-28255_5-28251del (n.5-28255_5-28251del)
c.-43-17685_-43-17681del (n.-43-17685_-43-17681del)
c.-99+33065_-99+33069del (n.-99+33065_-99+33069del)
n.3461_3465del
n.3502_3506del
 ClinVar dbSNP
17g.43092207delCA002153BRCA1n.3393del
c.3329del (p.Lys1110SerfsTer7)
c.3203del (p.Lys1068SerfsTer7)
c.3326del (p.Lys1109SerfsTer7)
c.3251del (p.Lys1084SerfsTer7)
c.785-1170del (n.785-1170del)
c.647-1170del (n.647-1170del)
c.2441del (p.Lys814SerfsTer7)
c.3206del (p.Lys1069SerfsTer7)
c.3188del (p.Lys1063SerfsTer7)
c.665-1170del (n.665-1170del)
c.707-1170del (n.707-1170del)
c.671-1170del (n.671-1170del)
c.*3112del (n.*3112del)
c.788-1170del (n.788-1170del)
c.410-1170del (n.410-1170del)
c.413-1170del (n.413-1170del)
c.5-28251del (n.5-28251del)
c.-43-17681del (n.-43-17681del)
c.-99+33069del (n.-99+33069del)
n.3465del
n.3506del
 ClinVar dbSNP
17g.43092204_43092207delCA002144BRCA1n.3390_3393del
c.3326_3329del (p.Lys1109SerfsTer7)
c.3200_3203del (p.Lys1067SerfsTer7)
c.3323_3326del (p.Lys1108SerfsTer7)
c.3248_3251del (p.Lys1083SerfsTer7)
c.785-1173_785-1170del (n.785-1173_785-1170del)
c.647-1173_647-1170del (n.647-1173_647-1170del)
c.2438_2441del (p.Lys813SerfsTer7)
c.3203_3206del (p.Lys1068SerfsTer7)
c.3185_3188del (p.Lys1062SerfsTer7)
c.665-1173_665-1170del (n.665-1173_665-1170del)
c.707-1173_707-1170del (n.707-1173_707-1170del)
c.671-1173_671-1170del (n.671-1173_671-1170del)
c.*3109_*3112del (n.*3109_*3112del)
c.788-1173_788-1170del (n.788-1173_788-1170del)
c.410-1173_410-1170del (n.410-1173_410-1170del)
c.413-1173_413-1170del (n.413-1173_413-1170del)
c.5-28254_5-28251del (n.5-28254_5-28251del)
c.-43-17684_-43-17681del (n.-43-17684_-43-17681del)
c.-99+33066_-99+33069del (n.-99+33066_-99+33069del)
n.3462_3465del
n.3503_3506del
 ClinVar dbSNP

Number of alleles fetched