| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43084852_43094147del | CA645369660 | BRCA1 | c.1385_4186-2276del c.1244_4045-2276del c.787+598_877-2276del n.1521_4322-2276del n.1562_4363-2276del c.670+1700_760-2276del c.*1168_*3969-2276del c.784+598_874-2276del n.409+598_499-2276del n.412+598_502-2276del c.646+598_736-2276del c.5-30195_5-20900del (p.=) c.-43-19625_-43-10330del (p.=) c.-99+31125_-98-34661del (p.=) | ClinVar |
| 17 | g.43091672_43091675del | CA002486 | BRCA1 | c.3858_3861del (p.Ser1286ArgfsTer20) c.3717_3720del (p.Ser1239ArgfsTer20) c.788-641_788-638del (p.=) n.3994_3997del n.4035_4038del c.671-641_671-638del (p.=) c.*3641_*3644del (p.=) n.152_155del c.785-641_785-638del (p.=) n.410-641_410-638del (p.=) n.413-641_413-638del (p.=) c.647-641_647-638del (p.=) c.5-27722_5-27719del (p.=) c.-43-17152_-43-17149del (p.=) c.-99+33598_-99+33601del (p.=) | ClinVar dbSNP dbSNP gnomAD |
| 17 | g.43091672del | CA919844497 | BRCA1 | c.3859del (p.Glu1287ArgfsTer20) c.3718del (p.Glu1240ArgfsTer20) c.788-640del (p.=) n.3995del n.4036del c.671-640del (p.=) c.*3642del (p.=) n.153del c.785-640del (p.=) n.410-640del (p.=) n.413-640del (p.=) c.647-640del (p.=) c.5-27721del (p.=) c.-43-17151del (p.=) c.-99+33599del (p.=) | dbSNP |
| 17 | g.43091672C>A | CA10594243 | BRCA1 | c.3859G>T (p.Glu1287Ter) c.3718G>T (p.Glu1240Ter) c.788-640G>T (p.=) n.3995G>T n.4036G>T c.671-640G>T (p.=) c.*3642G>T (p.=) n.153G>T c.785-640G>T (p.=) n.410-640G>T (p.=) n.413-640G>T (p.=) c.647-640G>T (p.=) c.5-27721G>T (p.=) c.-43-17151G>T (p.=) c.-99+33599G>T (p.=) | |
| 17 | g.43091672C>G | CA10594244 | BRCA1 | c.3859G>C (p.Glu1287Gln) c.3718G>C (p.Glu1240Gln) c.788-640G>C (p.=) n.3995G>C n.4036G>C c.671-640G>C (p.=) c.*3642G>C (p.=) n.153G>C c.785-640G>C (p.=) n.410-640G>C (p.=) n.413-640G>C (p.=) c.647-640G>C (p.=) c.5-27721G>C (p.=) c.-43-17151G>C (p.=) c.-99+33599G>C (p.=) | |
| 17 | g.43091672C>T | CA10594245 | BRCA1 | c.3859G>A (p.Glu1287Lys) c.3718G>A (p.Glu1240Lys) c.788-640G>A (p.=) n.3995G>A n.4036G>A c.671-640G>A (p.=) c.*3642G>A (p.=) n.153G>A c.785-640G>A (p.=) n.410-640G>A (p.=) n.413-640G>A (p.=) c.647-640G>A (p.=) c.5-27721G>A (p.=) c.-43-17151G>A (p.=) c.-99+33599G>A (p.=) | ClinVar |
| 17 | g.43091673A>C | CA10594246 | BRCA1 | c.3858T>G (p.Ser1286Arg) c.3717T>G (p.Ser1239Arg) c.788-641T>G (p.=) n.3994T>G n.4035T>G c.671-641T>G (p.=) c.*3641T>G (p.=) n.152T>G c.785-641T>G (p.=) n.410-641T>G (p.=) n.413-641T>G (p.=) c.647-641T>G (p.=) c.5-27722T>G (p.=) c.-43-17152T>G (p.=) c.-99+33598T>G (p.=) | |
| 17 | g.43091673A>G | CA002488 | BRCA1 | c.3858T>C (p.Ser1286=) c.3717T>C (p.Ser1239=) c.788-641T>C (p.=) n.3994T>C n.4035T>C c.671-641T>C (p.=) c.*3641T>C (p.=) n.152T>C c.785-641T>C (p.=) n.410-641T>C (p.=) n.413-641T>C (p.=) c.647-641T>C (p.=) c.5-27722T>C (p.=) c.-43-17152T>C (p.=) c.-99+33598T>C (p.=) | ClinVar dbSNP |
| 17 | g.43091673A>T | CA10594247 | BRCA1 | c.3858T>A (p.Ser1286Arg) c.3717T>A (p.Ser1239Arg) c.788-641T>A (p.=) n.3994T>A n.4035T>A c.671-641T>A (p.=) c.*3641T>A (p.=) n.152T>A c.785-641T>A (p.=) n.410-641T>A (p.=) n.413-641T>A (p.=) c.647-641T>A (p.=) c.5-27722T>A (p.=) c.-43-17152T>A (p.=) c.-99+33598T>A (p.=) | |
| 17 | g.43091674C>A | CA10594248 | BRCA1 | c.3857G>T (p.Ser1286Ile) c.3716G>T (p.Ser1239Ile) c.788-642G>T (p.=) n.3993G>T n.4034G>T c.671-642G>T (p.=) c.*3640G>T (p.=) n.151G>T c.785-642G>T (p.=) n.410-642G>T (p.=) n.413-642G>T (p.=) c.647-642G>T (p.=) c.5-27723G>T (p.=) c.-43-17153G>T (p.=) c.-99+33597G>T (p.=) | |
| 17 | g.43091674C>G | CA002485 | BRCA1 | c.3857G>C (p.Ser1286Thr) c.3716G>C (p.Ser1239Thr) c.788-642G>C (p.=) n.3993G>C n.4034G>C c.671-642G>C (p.=) c.*3640G>C (p.=) n.151G>C c.785-642G>C (p.=) n.410-642G>C (p.=) n.413-642G>C (p.=) c.647-642G>C (p.=) c.5-27723G>C (p.=) c.-43-17153G>C (p.=) c.-99+33597G>C (p.=) | ClinVar dbSNP ExAC |
| 17 | g.43091674C>T | CA10594249 | BRCA1 | c.3857G>A (p.Ser1286Asn) c.3716G>A (p.Ser1239Asn) c.788-642G>A (p.=) n.3993G>A n.4034G>A c.671-642G>A (p.=) c.*3640G>A (p.=) n.151G>A c.785-642G>A (p.=) n.410-642G>A (p.=) n.413-642G>A (p.=) c.647-642G>A (p.=) c.5-27723G>A (p.=) c.-43-17153G>A (p.=) c.-99+33597G>A (p.=) | |
| 17 | g.43091675del | CA002484 | BRCA1 | c.3856del (p.Ser1286ValfsTer21) c.3715del (p.Ser1239ValfsTer21) c.788-643del (p.=) n.3992del n.4033del c.671-643del (p.=) c.*3639del (p.=) n.150del c.785-643del (p.=) n.410-643del (p.=) n.413-643del (p.=) c.647-643del (p.=) c.5-27724del (p.=) c.-43-17154del (p.=) c.-99+33596del (p.=) | ClinVar dbSNP |
| 17 | g.43091675T>A | CA10594250 | BRCA1 | c.3856A>T (p.Ser1286Cys) c.3715A>T (p.Ser1239Cys) c.788-643A>T (p.=) n.3992A>T n.4033A>T c.671-643A>T (p.=) c.*3639A>T (p.=) n.150A>T c.785-643A>T (p.=) n.410-643A>T (p.=) n.413-643A>T (p.=) c.647-643A>T (p.=) c.5-27724A>T (p.=) c.-43-17154A>T (p.=) c.-99+33596A>T (p.=) | |
| 17 | g.43091675T>C | CA10594251 | BRCA1 | c.3856A>G (p.Ser1286Gly) c.3715A>G (p.Ser1239Gly) c.788-643A>G (p.=) n.3992A>G n.4033A>G c.671-643A>G (p.=) c.*3639A>G (p.=) n.150A>G c.785-643A>G (p.=) n.410-643A>G (p.=) n.413-643A>G (p.=) c.647-643A>G (p.=) c.5-27724A>G (p.=) c.-43-17154A>G (p.=) c.-99+33596A>G (p.=) | |
| 17 | g.43091675T>G | CA10594252 | BRCA1 | c.3856A>C (p.Ser1286Arg) c.3715A>C (p.Ser1239Arg) c.788-643A>C (p.=) n.3992A>C n.4033A>C c.671-643A>C (p.=) c.*3639A>C (p.=) n.150A>C c.785-643A>C (p.=) n.410-643A>C (p.=) n.413-643A>C (p.=) c.647-643A>C (p.=) c.5-27724A>C (p.=) c.-43-17154A>C (p.=) c.-99+33596A>C (p.=) | |
| 17 | g.43091676A>C | CA500232155 | BRCA1 | c.3855T>G (p.Leu1285=) c.3714T>G (p.Leu1238=) c.788-644T>G (p.=) n.3991T>G n.4032T>G c.671-644T>G (p.=) c.*3638T>G (p.=) n.149T>G c.785-644T>G (p.=) n.410-644T>G (p.=) n.413-644T>G (p.=) c.647-644T>G (p.=) c.5-27725T>G (p.=) c.-43-17155T>G (p.=) c.-99+33595T>G (p.=) | |
| 17 | g.43091676A>G | CA500232156 | BRCA1 | c.3855T>C (p.Leu1285=) c.3714T>C (p.Leu1238=) c.788-644T>C (p.=) n.3991T>C n.4032T>C c.671-644T>C (p.=) c.*3638T>C (p.=) n.149T>C c.785-644T>C (p.=) n.410-644T>C (p.=) n.413-644T>C (p.=) c.647-644T>C (p.=) c.5-27725T>C (p.=) c.-43-17155T>C (p.=) c.-99+33595T>C (p.=) | |
| 17 | g.43091676A>T | CA500232157 | BRCA1 | c.3855T>A (p.Leu1285=) c.3714T>A (p.Leu1238=) c.788-644T>A (p.=) n.3991T>A n.4032T>A c.671-644T>A (p.=) c.*3638T>A (p.=) n.149T>A c.785-644T>A (p.=) n.410-644T>A (p.=) n.413-644T>A (p.=) c.647-644T>A (p.=) c.5-27725T>A (p.=) c.-43-17155T>A (p.=) c.-99+33595T>A (p.=) | |
| 17 | g.43091677A>C | CA10594253 | BRCA1 | c.3854T>G (p.Leu1285Arg) c.3713T>G (p.Leu1238Arg) c.788-645T>G (p.=) n.3990T>G n.4031T>G c.671-645T>G (p.=) c.*3637T>G (p.=) n.148T>G c.785-645T>G (p.=) n.410-645T>G (p.=) n.413-645T>G (p.=) c.647-645T>G (p.=) c.5-27726T>G (p.=) c.-43-17156T>G (p.=) c.-99+33594T>G (p.=) | |
| 17 | g.43091677A>G | CA10594254 | BRCA1 | c.3854T>C (p.Leu1285Pro) c.3713T>C (p.Leu1238Pro) c.788-645T>C (p.=) n.3990T>C n.4031T>C c.671-645T>C (p.=) c.*3637T>C (p.=) n.148T>C c.785-645T>C (p.=) n.410-645T>C (p.=) n.413-645T>C (p.=) c.647-645T>C (p.=) c.5-27726T>C (p.=) c.-43-17156T>C (p.=) c.-99+33594T>C (p.=) | |
| 17 | g.43091677A>T | CA10594255 | BRCA1 | c.3854T>A (p.Leu1285His) c.3713T>A (p.Leu1238His) c.788-645T>A (p.=) n.3990T>A n.4031T>A c.671-645T>A (p.=) c.*3637T>A (p.=) n.148T>A c.785-645T>A (p.=) n.410-645T>A (p.=) n.413-645T>A (p.=) c.647-645T>A (p.=) c.5-27726T>A (p.=) c.-43-17156T>A (p.=) c.-99+33594T>A (p.=) | |
| 17 | g.43091678G>A | CA10594256 | BRCA1 | c.3853C>T (p.Leu1285Phe) c.3712C>T (p.Leu1238Phe) c.788-646C>T (p.=) n.3989C>T n.4030C>T c.671-646C>T (p.=) c.*3636C>T (p.=) n.147C>T c.785-646C>T (p.=) n.410-646C>T (p.=) n.413-646C>T (p.=) c.647-646C>T (p.=) c.5-27727C>T (p.=) c.-43-17157C>T (p.=) c.-99+33593C>T (p.=) | |
| 17 | g.43091678G>C | CA10594257 | BRCA1 | c.3853C>G (p.Leu1285Val) c.3712C>G (p.Leu1238Val) c.788-646C>G (p.=) n.3989C>G n.4030C>G c.671-646C>G (p.=) c.*3636C>G (p.=) n.147C>G c.785-646C>G (p.=) n.410-646C>G (p.=) n.413-646C>G (p.=) c.647-646C>G (p.=) c.5-27727C>G (p.=) c.-43-17157C>G (p.=) c.-99+33593C>G (p.=) | |
| 17 | g.43091678G>T | CA10594258 | BRCA1 | c.3853C>A (p.Leu1285Ile) c.3712C>A (p.Leu1238Ile) c.788-646C>A (p.=) n.3989C>A n.4030C>A c.671-646C>A (p.=) c.*3636C>A (p.=) n.147C>A c.785-646C>A (p.=) n.410-646C>A (p.=) n.413-646C>A (p.=) c.647-646C>A (p.=) c.5-27727C>A (p.=) c.-43-17157C>A (p.=) c.-99+33593C>A (p.=) | |
| 17 | g.43091679del | CA002483 | BRCA1 | c.3853del (p.Ser1286ValfsTer21) c.3712del (p.Ser1239ValfsTer21) c.788-646del (p.=) n.3989del n.4030del c.671-646del (p.=) c.*3636del (p.=) n.147del c.785-646del (p.=) n.410-646del (p.=) n.413-646del (p.=) c.647-646del (p.=) c.5-27727del (p.=) c.-43-17157del (p.=) c.-99+33593del (p.=) | ClinVar dbSNP dbSNP |
| 17 | g.43091679G>A | CA059148 | BRCA1 | c.3852C>T (p.His1284=) c.3711C>T (p.His1237=) c.788-647C>T (p.=) n.3988C>T n.4029C>T c.671-647C>T (p.=) c.*3635C>T (p.=) n.146C>T c.785-647C>T (p.=) n.410-647C>T (p.=) n.413-647C>T (p.=) c.647-647C>T (p.=) c.5-27728C>T (p.=) c.-43-17158C>T (p.=) c.-99+33592C>T (p.=) | ClinVar dbSNP ExAC gnomAD |
| 17 | g.43091679G>C | CA10594259 | BRCA1 | c.3852C>G (p.His1284Gln) c.3711C>G (p.His1237Gln) c.788-647C>G (p.=) n.3988C>G n.4029C>G c.671-647C>G (p.=) c.*3635C>G (p.=) n.146C>G c.785-647C>G (p.=) n.410-647C>G (p.=) n.413-647C>G (p.=) c.647-647C>G (p.=) c.5-27728C>G (p.=) c.-43-17158C>G (p.=) c.-99+33592C>G (p.=) | |
| 17 | g.43091679G>T | CA10594260 | BRCA1 | c.3852C>A (p.His1284Gln) c.3711C>A (p.His1237Gln) c.788-647C>A (p.=) n.3988C>A n.4029C>A c.671-647C>A (p.=) c.*3635C>A (p.=) n.146C>A c.785-647C>A (p.=) n.410-647C>A (p.=) n.413-647C>A (p.=) c.647-647C>A (p.=) c.5-27728C>A (p.=) c.-43-17158C>A (p.=) c.-99+33592C>A (p.=) | gnomAD |
| 17 | g.43091680_43091681dup | CA002481 | BRCA1 | c.3851_3852dup (p.Leu1285ThrfsTer23) c.3710_3711dup (p.Leu1238ThrfsTer23) c.788-648_788-647dup (p.=) n.3987_3988dup n.4028_4029dup c.671-648_671-647dup (p.=) c.*3634_*3635dup (p.=) n.145_146dup c.785-648_785-647dup (p.=) n.410-648_410-647dup (p.=) n.413-648_413-647dup (p.=) c.647-648_647-647dup (p.=) c.5-27729_5-27728dup (p.=) c.-43-17159_-43-17158dup (p.=) c.-99+33591_-99+33592dup (p.=) | ClinVar dbSNP |
| 17 | g.43091680T>A | CA10594261 | BRCA1 | c.3851A>T (p.His1284Leu) c.3710A>T (p.His1237Leu) c.788-648A>T (p.=) n.3987A>T n.4028A>T c.671-648A>T (p.=) c.*3634A>T (p.=) n.145A>T c.785-648A>T (p.=) n.410-648A>T (p.=) n.413-648A>T (p.=) c.647-648A>T (p.=) c.5-27729A>T (p.=) c.-43-17159A>T (p.=) c.-99+33591A>T (p.=) | ClinVar |
| 17 | g.43091680T>C | CA002480 | BRCA1 | c.3851A>G (p.His1284Arg) c.3710A>G (p.His1237Arg) c.788-648A>G (p.=) n.3987A>G n.4028A>G c.671-648A>G (p.=) c.*3634A>G (p.=) n.145A>G c.785-648A>G (p.=) n.410-648A>G (p.=) n.413-648A>G (p.=) c.647-648A>G (p.=) c.5-27729A>G (p.=) c.-43-17159A>G (p.=) c.-99+33591A>G (p.=) | ClinVar dbSNP |
| 17 | g.43091680T>G | CA10594262 | BRCA1 | c.3851A>C (p.His1284Pro) c.3710A>C (p.His1237Pro) c.788-648A>C (p.=) n.3987A>C n.4028A>C c.671-648A>C (p.=) c.*3634A>C (p.=) n.145A>C c.785-648A>C (p.=) n.410-648A>C (p.=) n.413-648A>C (p.=) c.647-648A>C (p.=) c.5-27729A>C (p.=) c.-43-17159A>C (p.=) c.-99+33591A>C (p.=) | |
| 17 | g.43091681G>A | CA10594263 | BRCA1 | c.3850C>T (p.His1284Tyr) c.3709C>T (p.His1237Tyr) c.788-649C>T (p.=) n.3986C>T n.4027C>T c.671-649C>T (p.=) c.*3633C>T (p.=) n.144C>T c.785-649C>T (p.=) n.410-649C>T (p.=) n.413-649C>T (p.=) c.647-649C>T (p.=) c.5-27730C>T (p.=) c.-43-17160C>T (p.=) c.-99+33590C>T (p.=) | |
| 17 | g.43091681G>C | CA10594264 | BRCA1 | c.3850C>G (p.His1284Asp) c.3709C>G (p.His1237Asp) c.788-649C>G (p.=) n.3986C>G n.4027C>G c.671-649C>G (p.=) c.*3633C>G (p.=) n.144C>G c.785-649C>G (p.=) n.410-649C>G (p.=) n.413-649C>G (p.=) c.647-649C>G (p.=) c.5-27730C>G (p.=) c.-43-17160C>G (p.=) c.-99+33590C>G (p.=) | |
| 17 | g.43091681G>T | CA10594265 | BRCA1 | c.3850C>A (p.His1284Asn) c.3709C>A (p.His1237Asn) c.788-649C>A (p.=) n.3986C>A n.4027C>A c.671-649C>A (p.=) c.*3633C>A (p.=) n.144C>A c.785-649C>A (p.=) n.410-649C>A (p.=) n.413-649C>A (p.=) c.647-649C>A (p.=) c.5-27730C>A (p.=) c.-43-17160C>A (p.=) c.-99+33590C>A (p.=) | |
| 17 | g.43091685_43091695del | CA10589719 | BRCA1 | c.3840_3850del (p.Gln1281ProfsTer2) c.3699_3709del (p.Gln1234ProfsTer2) c.788-659_788-649del (p.=) n.3976_3986del n.4017_4027del c.671-659_671-649del (p.=) c.*3623_*3633del (p.=) n.134_144del c.785-659_785-649del (p.=) n.410-659_410-649del (p.=) n.413-659_413-649del (p.=) c.647-659_647-649del (p.=) c.5-27740_5-27730del (p.=) c.-43-17170_-43-17160del (p.=) c.-99+33580_-99+33590del (p.=) | ClinVar dbSNP |
| 17 | g.43091682A>C | CA10594266 | BRCA1 | c.3849T>G (p.His1283Gln) c.3708T>G (p.His1236Gln) c.788-650T>G (p.=) n.3985T>G n.4026T>G c.671-650T>G (p.=) c.*3632T>G (p.=) n.143T>G c.785-650T>G (p.=) n.410-650T>G (p.=) n.413-650T>G (p.=) c.647-650T>G (p.=) c.5-27731T>G (p.=) c.-43-17161T>G (p.=) c.-99+33589T>G (p.=) | |
| 17 | g.43091682A>G | CA500232158 | BRCA1 | c.3849T>C (p.His1283=) c.3708T>C (p.His1236=) c.788-650T>C (p.=) n.3985T>C n.4026T>C c.671-650T>C (p.=) c.*3632T>C (p.=) n.143T>C c.785-650T>C (p.=) n.410-650T>C (p.=) n.413-650T>C (p.=) c.647-650T>C (p.=) c.5-27731T>C (p.=) c.-43-17161T>C (p.=) c.-99+33589T>C (p.=) | ClinVar |
| 17 | g.43091682A>T | CA10594267 | BRCA1 | c.3849T>A (p.His1283Gln) c.3708T>A (p.His1236Gln) c.788-650T>A (p.=) n.3985T>A n.4026T>A c.671-650T>A (p.=) c.*3632T>A (p.=) n.143T>A c.785-650T>A (p.=) n.410-650T>A (p.=) n.413-650T>A (p.=) c.647-650T>A (p.=) c.5-27731T>A (p.=) c.-43-17161T>A (p.=) c.-99+33589T>A (p.=) | |
| 17 | g.43091683T>A | CA10594268 | BRCA1 | c.3848A>T (p.His1283Leu) c.3707A>T (p.His1236Leu) c.788-651A>T (p.=) n.3984A>T n.4025A>T c.671-651A>T (p.=) c.*3631A>T (p.=) n.142A>T c.785-651A>T (p.=) n.410-651A>T (p.=) n.413-651A>T (p.=) c.647-651A>T (p.=) c.5-27732A>T (p.=) c.-43-17162A>T (p.=) c.-99+33588A>T (p.=) | |
| 17 | g.43091683T>C | CA002479 | BRCA1 | c.3848A>G (p.His1283Arg) c.3707A>G (p.His1236Arg) c.788-651A>G (p.=) n.3984A>G n.4025A>G c.671-651A>G (p.=) c.*3631A>G (p.=) n.142A>G c.785-651A>G (p.=) n.410-651A>G (p.=) n.413-651A>G (p.=) c.647-651A>G (p.=) c.5-27732A>G (p.=) c.-43-17162A>G (p.=) c.-99+33588A>G (p.=) | ClinVar dbSNP ExAC gnomAD |
| 17 | g.43091683T>G | CA10594269 | BRCA1 | c.3848A>C (p.His1283Pro) c.3707A>C (p.His1236Pro) c.788-651A>C (p.=) n.3984A>C n.4025A>C c.671-651A>C (p.=) c.*3631A>C (p.=) n.142A>C c.785-651A>C (p.=) n.410-651A>C (p.=) n.413-651A>C (p.=) c.647-651A>C (p.=) c.5-27732A>C (p.=) c.-43-17162A>C (p.=) c.-99+33588A>C (p.=) | |
| 17 | g.43091684G>A | CA10594270 | BRCA1 | c.3847C>T (p.His1283Tyr) c.3706C>T (p.His1236Tyr) c.788-652C>T (p.=) n.3983C>T n.4024C>T c.671-652C>T (p.=) c.*3630C>T (p.=) n.141C>T c.785-652C>T (p.=) n.410-652C>T (p.=) n.413-652C>T (p.=) c.647-652C>T (p.=) c.5-27733C>T (p.=) c.-43-17163C>T (p.=) c.-99+33587C>T (p.=) | ClinVar |
| 17 | g.43091684G>C | CA10594271 | BRCA1 | c.3847C>G (p.His1283Asp) c.3706C>G (p.His1236Asp) c.788-652C>G (p.=) n.3983C>G n.4024C>G c.671-652C>G (p.=) c.*3630C>G (p.=) n.141C>G c.785-652C>G (p.=) n.410-652C>G (p.=) n.413-652C>G (p.=) c.647-652C>G (p.=) c.5-27733C>G (p.=) c.-43-17163C>G (p.=) c.-99+33587C>G (p.=) | |
| 17 | g.43091684G>T | CA10594272 | BRCA1 | c.3847C>A (p.His1283Asn) c.3706C>A (p.His1236Asn) c.788-652C>A (p.=) n.3983C>A n.4024C>A c.671-652C>A (p.=) c.*3630C>A (p.=) n.141C>A c.785-652C>A (p.=) n.410-652C>A (p.=) n.413-652C>A (p.=) c.647-652C>A (p.=) c.5-27733C>A (p.=) c.-43-17163C>A (p.=) c.-99+33587C>A (p.=) | |
| 17 | g.43091685T>A | CA10594273 | BRCA1 | c.3846A>T (p.Glu1282Asp) c.3705A>T (p.Glu1235Asp) c.788-653A>T (p.=) n.3982A>T n.4023A>T c.671-653A>T (p.=) c.*3629A>T (p.=) n.140A>T c.785-653A>T (p.=) n.410-653A>T (p.=) n.413-653A>T (p.=) c.647-653A>T (p.=) c.5-27734A>T (p.=) c.-43-17164A>T (p.=) c.-99+33586A>T (p.=) | |
| 17 | g.43091685T>C | CA500232159 | BRCA1 | c.3846A>G (p.Glu1282=) c.3705A>G (p.Glu1235=) c.788-653A>G (p.=) n.3982A>G n.4023A>G c.671-653A>G (p.=) c.*3629A>G (p.=) n.140A>G c.785-653A>G (p.=) n.410-653A>G (p.=) n.413-653A>G (p.=) c.647-653A>G (p.=) c.5-27734A>G (p.=) c.-43-17164A>G (p.=) c.-99+33586A>G (p.=) | ClinVar |
| 17 | g.43091685T>G | CA10594274 | BRCA1 | c.3846A>C (p.Glu1282Asp) c.3705A>C (p.Glu1235Asp) c.788-653A>C (p.=) n.3982A>C n.4023A>C c.671-653A>C (p.=) c.*3629A>C (p.=) n.140A>C c.785-653A>C (p.=) n.410-653A>C (p.=) n.413-653A>C (p.=) c.647-653A>C (p.=) c.5-27734A>C (p.=) c.-43-17164A>C (p.=) c.-99+33586A>C (p.=) | |
| 17 | g.43091686T>A | CA002478 | BRCA1 | c.3845A>T (p.Glu1282Val) c.3704A>T (p.Glu1235Val) c.788-654A>T (p.=) n.3981A>T n.4022A>T c.671-654A>T (p.=) c.*3628A>T (p.=) n.139A>T c.785-654A>T (p.=) n.410-654A>T (p.=) n.413-654A>T (p.=) c.647-654A>T (p.=) c.5-27735A>T (p.=) c.-43-17165A>T (p.=) c.-99+33585A>T (p.=) | ClinVar dbSNP gnomAD |