| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43091891_43091892del | CA002330 | BRCA1 | n.3706_3707del c.3642_3643del (p.Asn1215LeufsTer3) c.3516_3517del (p.Asn1173LeufsTer3) c.3639_3640del (p.Asn1214LeufsTer3) c.3564_3565del (p.Asn1189LeufsTer3) c.785-857_785-856del (n.785-857_785-856del) c.647-857_647-856del (n.647-857_647-856del) c.2754_2755del (p.Asn919LeufsTer3) c.3519_3520del (p.Asn1174LeufsTer3) c.3501_3502del (p.Asn1168LeufsTer3) c.665-857_665-856del (n.665-857_665-856del) c.707-857_707-856del (n.707-857_707-856del) c.671-857_671-856del (n.671-857_671-856del) c.*3425_*3426del (n.*3425_*3426del) c.788-857_788-856del (n.788-857_788-856del) c.410-857_410-856del (n.410-857_410-856del) c.413-857_413-856del (n.413-857_413-856del) c.5-27938_5-27937del (n.5-27938_5-27937del) c.-43-17368_-43-17367del (n.-43-17368_-43-17367del) c.-99+33382_-99+33383del (n.-99+33382_-99+33383del) n.3778_3779del n.3819_3820del | dbSNP |
| 17 | g.43091891_43091892dup | CA915950122 | BRCA1 | n.3706_3707dup c.3642_3643dup (p.Asn1215ArgfsTer21) c.3516_3517dup (p.Asn1173ArgfsTer21) c.3639_3640dup (p.Asn1214ArgfsTer21) c.3564_3565dup (p.Asn1189ArgfsTer21) c.785-857_785-856dup (n.785-857_785-856dup) c.647-857_647-856dup (n.647-857_647-856dup) c.2754_2755dup (p.Asn919ArgfsTer21) c.3519_3520dup (p.Asn1174ArgfsTer21) c.3501_3502dup (p.Asn1168ArgfsTer21) c.665-857_665-856dup (n.665-857_665-856dup) c.707-857_707-856dup (n.707-857_707-856dup) c.671-857_671-856dup (n.671-857_671-856dup) c.*3425_*3426dup (n.*3425_*3426dup) c.788-857_788-856dup (n.788-857_788-856dup) c.410-857_410-856dup (n.410-857_410-856dup) c.413-857_413-856dup (n.413-857_413-856dup) c.5-27938_5-27937dup (n.5-27938_5-27937dup) c.-43-17368_-43-17367dup (n.-43-17368_-43-17367dup) c.-99+33382_-99+33383dup (n.-99+33382_-99+33383dup) n.3778_3779dup n.3819_3820dup | ClinVar dbSNP |