| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43091772dup | CA002411 | BRCA1 | n.3823dup c.3759dup (p.Lys1254Ter) c.3633dup (p.Lys1212Ter) c.3756dup (p.Lys1253Ter) c.3681dup (p.Lys1228Ter) c.785-740dup (n.785-740dup) c.647-740dup (n.647-740dup) c.2871dup (p.Lys958Ter) c.3636dup (p.Lys1213Ter) c.3618dup (p.Lys1207Ter) c.665-740dup (n.665-740dup) c.707-740dup (n.707-740dup) c.80dup c.671-740dup (n.671-740dup) c.*3542dup (n.*3542dup) c.53dup c.788-740dup (n.788-740dup) c.410-740dup (n.410-740dup) c.413-740dup (n.413-740dup) c.5-27821dup (n.5-27821dup) c.-43-17251dup (n.-43-17251dup) c.-99+33499dup (n.-99+33499dup) n.3895dup n.3936dup | ClinVar dbSNP gnomAD v4 |
| 17 | g.43091772_43091773insAA | CA2499224454 | BRCA1 | n.3823_3824insTT c.3759_3760insTT (p.Lys1254LeufsTer11) c.3633_3634insTT (p.Lys1212LeufsTer11) c.3756_3757insTT (p.Lys1253LeufsTer11) c.3681_3682insTT (p.Lys1228LeufsTer11) c.785-740_785-739insTT (n.785-740_785-739insTT) c.647-740_647-739insTT (n.647-740_647-739insTT) c.2871_2872insTT (p.Lys958LeufsTer11) c.3636_3637insTT (p.Lys1213LeufsTer11) c.3618_3619insTT (p.Lys1207LeufsTer11) c.665-740_665-739insTT (n.665-740_665-739insTT) c.707-740_707-739insTT (n.707-740_707-739insTT) c.80_81insTT c.671-740_671-739insTT (n.671-740_671-739insTT) c.*3542_*3543insTT (n.*3542_*3543insTT) c.53_54insTT c.788-740_788-739insTT (n.788-740_788-739insTT) c.410-740_410-739insTT (n.410-740_410-739insTT) c.413-740_413-739insTT (n.413-740_413-739insTT) c.5-27821_5-27820insTT (n.5-27821_5-27820insTT) c.-43-17251_-43-17250insTT (n.-43-17251_-43-17250insTT) c.-99+33499_-99+33500insTT (n.-99+33499_-99+33500insTT) n.3895_3896insTT n.3936_3937insTT | ClinVar dbSNP |
| 17 | g.43091772A= | CA2260782269 | BRCA1 | n.3823T= c.3759T= (p.Ser1253=) c.3633T= (p.Ser1211=) c.3756T= (p.Ser1252=) c.3681T= (p.Ser1227=) c.785-740T= (n.785-740T=) c.647-740T= (n.647-740T=) c.2871T= (p.Ser957=) c.3636T= (p.Ser1212=) c.3618T= (p.Ser1206=) c.665-740T= (n.665-740T=) c.707-740T= (n.707-740T=) c.80T= c.671-740T= (n.671-740T=) c.*3542T= (n.*3542T=) c.53T= c.788-740T= (n.788-740T=) c.410-740T= (n.410-740T=) c.413-740T= (n.413-740T=) c.5-27821T= (n.5-27821T=) c.-43-17251T= (n.-43-17251T=) c.-99+33499T= (n.-99+33499T=) n.3895T= n.3936T= | dbSNP dbSNP dbSNP |