| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43092480_43092484dup | CA002003 | BRCA1 | n.3112_3116dup c.3048_3052dup (p.Asn1018MetfsTer8) c.2922_2926dup (p.Asn976MetfsTer8) c.3045_3049dup (p.Asn1017MetfsTer8) c.2970_2974dup (p.Asn992MetfsTer8) c.785-1451_785-1447dup (n.785-1451_785-1447dup) c.647-1451_647-1447dup (n.647-1451_647-1447dup) c.2160_2164dup (p.Asn722MetfsTer8) c.2925_2929dup (p.Asn977MetfsTer8) c.2907_2911dup (p.Asn971MetfsTer8) c.665-1451_665-1447dup (n.665-1451_665-1447dup) c.707-1451_707-1447dup (n.707-1451_707-1447dup) c.671-1451_671-1447dup (n.671-1451_671-1447dup) c.*2831_*2835dup (n.*2831_*2835dup) c.788-1451_788-1447dup (n.788-1451_788-1447dup) c.410-1451_410-1447dup (n.410-1451_410-1447dup) c.413-1451_413-1447dup (n.413-1451_413-1447dup) c.5-28532_5-28528dup (n.5-28532_5-28528dup) c.-43-17962_-43-17958dup (n.-43-17962_-43-17958dup) c.-99+32788_-99+32792dup (n.-99+32788_-99+32792dup) n.3184_3188dup n.3225_3229dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.43092480_43092484del | CA1139665620 | BRCA1 | n.3112_3116del c.3048_3052del (p.Asn1016LysfsTer10) c.2922_2926del (p.Asn974LysfsTer10) c.3045_3049del (p.Asn1015LysfsTer10) c.2970_2974del (p.Asn990LysfsTer10) c.785-1451_785-1447del (n.785-1451_785-1447del) c.647-1451_647-1447del (n.647-1451_647-1447del) c.2160_2164del (p.Asn720LysfsTer10) c.2925_2929del (p.Asn975LysfsTer10) c.2907_2911del (p.Asn969LysfsTer10) c.665-1451_665-1447del (n.665-1451_665-1447del) c.707-1451_707-1447del (n.707-1451_707-1447del) c.671-1451_671-1447del (n.671-1451_671-1447del) c.*2831_*2835del (n.*2831_*2835del) c.788-1451_788-1447del (n.788-1451_788-1447del) c.410-1451_410-1447del (n.410-1451_410-1447del) c.413-1451_413-1447del (n.413-1451_413-1447del) c.5-28532_5-28528del (n.5-28532_5-28528del) c.-43-17962_-43-17958del (n.-43-17962_-43-17958del) c.-99+32788_-99+32792del (n.-99+32788_-99+32792del) n.3184_3188del n.3225_3229del | ClinVar dbSNP |