UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43084852_43094147del | CA645369660 | BRCA1 | c.1385_4186-2276del c.1259_4060-2276del c.1382_4183-2279del c.1307_4108-2276del c.784+598_874-2276del c.646+598_736-2276del c.497_3298-2276del c.1262_4063-2276del c.1244_4045-2276del c.664+598_754-2279del c.706+598_796-2276del c.670+1700_760-2276del c.*1168_*3969-2276del c.787+598_877-2276del c.409+598_499-2276del c.412+598_502-2276del c.5-30195_5-20900del (n.5-30195_5-20900del) c.-43-19625_-43-10330del (n.-43-19625_-43-10330del) c.-99+31125_-98-34661del (n.-99+31125_-98-34661del) n.1521_4322-2276del n.1562_4363-2276del | ClinVar |
| 17 | g.43090942_43094828del | CA2499224437 | BRCA1 | c.705_4185+4del c.579_4059+4del c.702_4182+4del c.627_4107+4del c.702_873+4del c.564_735+4del c.-184_3297+4del c.582_4062+4del c.564_4044+4del c.582_753+4del c.624_795+4del c.670+1020_759+4del c.*488_*3968+4del c.705_876+4del c.327_498+4del c.330_501+4del c.4+30356_5-26989del (n.4+30356_5-26989del) c.-43-20305_-43-16419del (n.-43-20305_-43-16419del) c.-99+30445_-99+34331del (n.-99+30445_-99+34331del) n.841_4321+4del n.882_4362+4del | ClinVar |
| 17 | g.43090946_43097291del | CA2580061395 | BRCA1 | c.549_4185+1del c.545-2428_4059+1del c.546_4182+1del c.471_4107+1del c.546_873+1del c.408_735+1del c.-218-2428_3297+1del c.548-2428_4062+1del c.408_4044+1del c.548-2428_753+1del c.468_795+1del c.549_759+1del c.*332_*3968+1del c.549_876+1del c.293-2428_498+1del c.296-2428_501+1del c.4+27894_5-26992del (n.4+27894_5-26992del) c.-43-22767_-43-16422del (n.-43-22767_-43-16422del) c.-99+27983_-99+34328del (n.-99+27983_-99+34328del) n.685_4321+1del n.726_4362+1del | ClinVar |
| 17 | g.43091435_43094858dup | CA2579756134 | BRCA1 | n.738_4161dup c.674_4096+1dup c.548_3970+1dup c.671_4093+1dup c.596_4018+1dup c.671_785-402dup c.533_647-402dup c.-215_3208+1dup c.551_3973+1dup c.533_3955+1dup c.551_665-402dup c.593_707-402dup c.670+989_671-402dup (n.670+989_671-402dup) c.674_4097dup (p.Ile1367LeufsTer2) c.*457_*3879+1dup c.674_788-402dup c.296_410-402dup c.299_413-402dup c.4+30325_5-27483dup (n.4+30325_5-27483dup) c.-43-20336_-43-16913dup (n.-43-20336_-43-16913dup) c.-99+30414_-99+33837dup (n.-99+30414_-99+33837dup) n.810_4232+1dup n.851_4273+1dup | |
| 17 | g.43091435_43094859dup | CA2579756133 | BRCA1 | n.736_4160dup c.672_4096dup (p.Gly1366ValfsTer10) c.546_3970dup (p.Gly1324ValfsTer10) c.669_4093dup (p.Gly1365ValfsTer10) c.594_4018dup (p.Gly1340ValfsTer10) c.669_785-403dup c.531_647-403dup c.-217_3208dup (p.Gly1070ValfsTer10) c.549_3973dup (p.Gly1325ValfsTer10) c.531_3955dup (p.Gly1319ValfsTer10) c.549_665-403dup c.591_707-403dup c.670+987_671-403dup (n.670+987_671-403dup) c.*455_*3879dup (n.*455_*3879dup) c.672_788-403dup c.294_410-403dup c.297_413-403dup c.4+30323_5-27484dup (n.4+30323_5-27484dup) c.-43-20338_-43-16914dup (n.-43-20338_-43-16914dup) c.-99+30412_-99+33836dup (n.-99+30412_-99+33836dup) n.808_4232dup n.849_4273dup | |
| 17 | g.43091437_43094862del | CA2580618251 | BRCA1 | n.735_4160del c.671_4096del c.545_3970del c.668_4093del c.593_4018del c.668_785-403del c.530_647-403del c.-218_3208del c.548_3973del c.530_3955del c.548_665-403del c.590_707-403del c.670+986_671-403del (n.670+986_671-403del) c.*454_*3879del c.671_788-403del c.293_410-403del c.296_413-403del c.4+30322_5-27484del (n.4+30322_5-27484del) c.-43-20339_-43-16914del (n.-43-20339_-43-16914del) c.-99+30411_-99+33836del (n.-99+30411_-99+33836del) n.807_4232del n.848_4273del | |
| 17 | g.43091560_43092541dup | CA1139665610 | BRCA1 | n.3054_4035dup c.2990_3971dup (p.Met1324IlefsTer8) c.2864_3845dup (p.Met1282IlefsTer8) c.2987_3968dup (p.Met1323IlefsTer8) c.2912_3893dup (p.Met1298IlefsTer8) c.785-1509_785-528dup (n.785-1509_785-528dup) c.647-1509_647-528dup (n.647-1509_647-528dup) c.2102_3083dup (p.Met1028IlefsTer8) c.2867_3848dup (p.Met1283IlefsTer8) c.2849_3830dup (p.Met1277IlefsTer8) c.665-1509_665-528dup (n.665-1509_665-528dup) c.707-1509_707-528dup (n.707-1509_707-528dup) c.671-1509_671-528dup (n.671-1509_671-528dup) c.*2773_*3754dup (n.*2773_*3754dup) c.788-1509_788-528dup (n.788-1509_788-528dup) c.410-1509_410-528dup (n.410-1509_410-528dup) c.413-1509_413-528dup (n.413-1509_413-528dup) c.5-28590_5-27609dup (n.5-28590_5-27609dup) c.-43-18020_-43-17039dup (n.-43-18020_-43-17039dup) c.-99+32730_-99+33711dup (n.-99+32730_-99+33711dup) n.3126_4107dup n.3167_4148dup | ClinVar dbSNP |
| 17 | g.43091633_43094861del | CA2580618250 | BRCA1 | n.736_3964del c.672_3900del c.546_3774del c.669_3897del c.594_3822del c.669_785-599del c.531_647-599del c.-217_3012del c.549_3777del c.531_3759del c.549_665-599del c.591_707-599del c.670+987_671-599del (n.670+987_671-599del) c.*455_*3683del c.672_788-599del c.294_410-599del c.297_413-599del c.4+30323_5-27680del (n.4+30323_5-27680del) c.-43-20338_-43-17110del (n.-43-20338_-43-17110del) c.-99+30412_-99+33640del (n.-99+30412_-99+33640del) n.808_4036del n.849_4077del | |
| 17 | g.43091940_43091948delinsATGTGTATG | CA2260782445 | BRCA1 | n.3647_3655delinsCATACACAT c.3583_3591delinsCATACACAT (p.His1195=) c.3457_3465delinsCATACACAT (p.His1153=) c.3580_3588delinsCATACACAT (p.His1194=) c.3505_3513delinsCATACACAT (p.His1169=) c.785-916_785-908delinsCATACACAT (n.785-916_785-908delinsCATACACAT) c.647-916_647-908delinsCATACACAT (n.647-916_647-908delinsCATACACAT) c.2695_2703delinsCATACACAT (p.His899=) c.3460_3468delinsCATACACAT (p.His1154=) c.3442_3450delinsCATACACAT (p.His1148=) c.665-916_665-908delinsCATACACAT (n.665-916_665-908delinsCATACACAT) c.707-916_707-908delinsCATACACAT (n.707-916_707-908delinsCATACACAT) c.671-916_671-908delinsCATACACAT (n.671-916_671-908delinsCATACACAT) c.*3366_*3374delinsCATACACAT (n.*3366_*3374delinsCATACACAT) c.788-916_788-908delinsCATACACAT (n.788-916_788-908delinsCATACACAT) c.410-916_410-908delinsCATACACAT (n.410-916_410-908delinsCATACACAT) c.413-916_413-908delinsCATACACAT (n.413-916_413-908delinsCATACACAT) c.5-27997_5-27989delinsCATACACAT (n.5-27997_5-27989delinsCATACACAT) c.-43-17427_-43-17419delinsCATACACAT (n.-43-17427_-43-17419delinsCATACACAT) c.-99+33323_-99+33331delinsCATACACAT (n.-99+33323_-99+33331delinsCATACACAT) n.3719_3727delinsCATACACAT n.3760_3768delinsCATACACAT | |
| 17 | g.43091941_43091948del | CA10589736 | BRCA1 | n.3647_3654del c.3583_3590del (p.His1195PhefsTer21) c.3457_3464del (p.His1153PhefsTer21) c.3580_3587del (p.His1194PhefsTer21) c.3505_3512del (p.His1169PhefsTer21) c.785-916_785-909del (n.785-916_785-909del) c.647-916_647-909del (n.647-916_647-909del) c.2695_2702del (p.His899PhefsTer21) c.3460_3467del (p.His1154PhefsTer21) c.3442_3449del (p.His1148PhefsTer21) c.665-916_665-909del (n.665-916_665-909del) c.707-916_707-909del (n.707-916_707-909del) c.671-916_671-909del (n.671-916_671-909del) c.*3366_*3373del (n.*3366_*3373del) c.788-916_788-909del (n.788-916_788-909del) c.410-916_410-909del (n.410-916_410-909del) c.413-916_413-909del (n.413-916_413-909del) c.5-27997_5-27990del (n.5-27997_5-27990del) c.-43-17427_-43-17420del (n.-43-17427_-43-17420del) c.-99+33323_-99+33330del (n.-99+33323_-99+33330del) n.3719_3726del n.3760_3767del | ClinVar dbSNP |
| 17 | g.43091941_43091949delinsTGTGTATGG | CA2260782446 | BRCA1 | n.3646_3654delinsCCATACACA c.3582_3590delinsCCATACACA (p.Thr1194=) c.3456_3464delinsCCATACACA (p.Thr1152=) c.3579_3587delinsCCATACACA (p.Thr1193=) c.3504_3512delinsCCATACACA (p.Thr1168=) c.785-917_785-909delinsCCATACACA (n.785-917_785-909delinsCCATACACA) c.647-917_647-909delinsCCATACACA (n.647-917_647-909delinsCCATACACA) c.2694_2702delinsCCATACACA (p.Thr898=) c.3459_3467delinsCCATACACA (p.Thr1153=) c.3441_3449delinsCCATACACA (p.Thr1147=) c.665-917_665-909delinsCCATACACA (n.665-917_665-909delinsCCATACACA) c.707-917_707-909delinsCCATACACA (n.707-917_707-909delinsCCATACACA) c.671-917_671-909delinsCCATACACA (n.671-917_671-909delinsCCATACACA) c.*3365_*3373delinsCCATACACA (n.*3365_*3373delinsCCATACACA) c.788-917_788-909delinsCCATACACA (n.788-917_788-909delinsCCATACACA) c.410-917_410-909delinsCCATACACA (n.410-917_410-909delinsCCATACACA) c.413-917_413-909delinsCCATACACA (n.413-917_413-909delinsCCATACACA) c.5-27998_5-27990delinsCCATACACA (n.5-27998_5-27990delinsCCATACACA) c.-43-17428_-43-17420delinsCCATACACA (n.-43-17428_-43-17420delinsCCATACACA) c.-99+33322_-99+33330delinsCCATACACA (n.-99+33322_-99+33330delinsCCATACACA) n.3718_3726delinsCCATACACA n.3759_3767delinsCCATACACA | |
| 17 | g.43091945_43091952del | CA10589737 | BRCA1 | n.3646_3653del c.3582_3589del (p.His1195PhefsTer21) c.3456_3463del (p.His1153PhefsTer21) c.3579_3586del (p.His1194PhefsTer21) c.3504_3511del (p.His1169PhefsTer21) c.785-917_785-910del (n.785-917_785-910del) c.647-917_647-910del (n.647-917_647-910del) c.2694_2701del (p.His899PhefsTer21) c.3459_3466del (p.His1154PhefsTer21) c.3441_3448del (p.His1148PhefsTer21) c.665-917_665-910del (n.665-917_665-910del) c.707-917_707-910del (n.707-917_707-910del) c.671-917_671-910del (n.671-917_671-910del) c.*3365_*3372del (n.*3365_*3372del) c.788-917_788-910del (n.788-917_788-910del) c.410-917_410-910del (n.410-917_410-910del) c.413-917_413-910del (n.413-917_413-910del) c.5-27998_5-27991del (n.5-27998_5-27991del) c.-43-17428_-43-17421del (n.-43-17428_-43-17421del) c.-99+33322_-99+33329del (n.-99+33322_-99+33329del) n.3718_3725del n.3759_3766del | ClinVar dbSNP gnomAD v4 |
| 17 | g.43091946A= | CA2260782451 | BRCA1 | n.3649T= c.3585T= (p.His1195=) c.3459T= (p.His1153=) c.3582T= (p.His1194=) c.3507T= (p.His1169=) c.785-914T= (n.785-914T=) c.647-914T= (n.647-914T=) c.2697T= (p.His899=) c.3462T= (p.His1154=) c.3444T= (p.His1148=) c.665-914T= (n.665-914T=) c.707-914T= (n.707-914T=) c.671-914T= (n.671-914T=) c.*3368T= (n.*3368T=) c.788-914T= (n.788-914T=) c.410-914T= (n.410-914T=) c.413-914T= (n.413-914T=) c.5-27995T= (n.5-27995T=) c.-43-17425T= (n.-43-17425T=) c.-99+33325T= (n.-99+33325T=) n.3721T= n.3762T= | |
| 17 | g.43091946A>C | CA10594793 | BRCA1 | n.3649T>G c.3585T>G (p.His1195Gln) c.3459T>G (p.His1153Gln) c.3582T>G (p.His1194Gln) c.3507T>G (p.His1169Gln) c.785-914T>G (n.785-914T>G) c.647-914T>G (n.647-914T>G) c.2697T>G (p.His899Gln) c.3462T>G (p.His1154Gln) c.3444T>G (p.His1148Gln) c.665-914T>G (n.665-914T>G) c.707-914T>G (n.707-914T>G) c.671-914T>G (n.671-914T>G) c.*3368T>G (n.*3368T>G) c.788-914T>G (n.788-914T>G) c.410-914T>G (n.410-914T>G) c.413-914T>G (n.413-914T>G) c.5-27995T>G (n.5-27995T>G) c.-43-17425T>G (n.-43-17425T>G) c.-99+33325T>G (n.-99+33325T>G) n.3721T>G n.3762T>G | dbSNP |
| 17 | g.43091946A>G | CA500232033 | BRCA1 | n.3649T>C c.3585T>C (p.His1195=) c.3459T>C (p.His1153=) c.3582T>C (p.His1194=) c.3507T>C (p.His1169=) c.785-914T>C (n.785-914T>C) c.647-914T>C (n.647-914T>C) c.2697T>C (p.His899=) c.3462T>C (p.His1154=) c.3444T>C (p.His1148=) c.665-914T>C (n.665-914T>C) c.707-914T>C (n.707-914T>C) c.671-914T>C (n.671-914T>C) c.*3368T>C (n.*3368T>C) c.788-914T>C (n.788-914T>C) c.410-914T>C (n.410-914T>C) c.413-914T>C (n.413-914T>C) c.5-27995T>C (n.5-27995T>C) c.-43-17425T>C (n.-43-17425T>C) c.-99+33325T>C (n.-99+33325T>C) n.3721T>C n.3762T>C | ClinVar dbSNP |
| 17 | g.43091946A>T | CA10594794 | BRCA1 | n.3649T>A c.3585T>A (p.His1195Gln) c.3459T>A (p.His1153Gln) c.3582T>A (p.His1194Gln) c.3507T>A (p.His1169Gln) c.785-914T>A (n.785-914T>A) c.647-914T>A (n.647-914T>A) c.2697T>A (p.His899Gln) c.3462T>A (p.His1154Gln) c.3444T>A (p.His1148Gln) c.665-914T>A (n.665-914T>A) c.707-914T>A (n.707-914T>A) c.671-914T>A (n.671-914T>A) c.*3368T>A (n.*3368T>A) c.788-914T>A (n.788-914T>A) c.410-914T>A (n.410-914T>A) c.413-914T>A (n.413-914T>A) c.5-27995T>A (n.5-27995T>A) c.-43-17425T>A (n.-43-17425T>A) c.-99+33325T>A (n.-99+33325T>A) n.3721T>A n.3762T>A | ClinVar dbSNP |
| 17 | g.43091947T>A | CA10594795 | BRCA1 | n.3648A>T c.3584A>T (p.His1195Leu) c.3458A>T (p.His1153Leu) c.3581A>T (p.His1194Leu) c.3506A>T (p.His1169Leu) c.785-915A>T (n.785-915A>T) c.647-915A>T (n.647-915A>T) c.2696A>T (p.His899Leu) c.3461A>T (p.His1154Leu) c.3443A>T (p.His1148Leu) c.665-915A>T (n.665-915A>T) c.707-915A>T (n.707-915A>T) c.671-915A>T (n.671-915A>T) c.*3367A>T (n.*3367A>T) c.788-915A>T (n.788-915A>T) c.410-915A>T (n.410-915A>T) c.413-915A>T (n.413-915A>T) c.5-27996A>T (n.5-27996A>T) c.-43-17426A>T (n.-43-17426A>T) c.-99+33324A>T (n.-99+33324A>T) n.3720A>T n.3761A>T | |
| 17 | g.43091947T>C | CA002285 | BRCA1 | n.3648A>G c.3584A>G (p.His1195Arg) c.3458A>G (p.His1153Arg) c.3581A>G (p.His1194Arg) c.3506A>G (p.His1169Arg) c.785-915A>G (n.785-915A>G) c.647-915A>G (n.647-915A>G) c.2696A>G (p.His899Arg) c.3461A>G (p.His1154Arg) c.3443A>G (p.His1148Arg) c.665-915A>G (n.665-915A>G) c.707-915A>G (n.707-915A>G) c.671-915A>G (n.671-915A>G) c.*3367A>G (n.*3367A>G) c.788-915A>G (n.788-915A>G) c.410-915A>G (n.410-915A>G) c.413-915A>G (n.413-915A>G) c.5-27996A>G (n.5-27996A>G) c.-43-17426A>G (n.-43-17426A>G) c.-99+33324A>G (n.-99+33324A>G) n.3720A>G n.3761A>G | ClinVar dbSNP gnomAD v4 |
| 17 | g.43091947T>G | CA10594796 | BRCA1 | n.3648A>C c.3584A>C (p.His1195Pro) c.3458A>C (p.His1153Pro) c.3581A>C (p.His1194Pro) c.3506A>C (p.His1169Pro) c.785-915A>C (n.785-915A>C) c.647-915A>C (n.647-915A>C) c.2696A>C (p.His899Pro) c.3461A>C (p.His1154Pro) c.3443A>C (p.His1148Pro) c.665-915A>C (n.665-915A>C) c.707-915A>C (n.707-915A>C) c.671-915A>C (n.671-915A>C) c.*3367A>C (n.*3367A>C) c.788-915A>C (n.788-915A>C) c.410-915A>C (n.410-915A>C) c.413-915A>C (n.413-915A>C) c.5-27996A>C (n.5-27996A>C) c.-43-17426A>C (n.-43-17426A>C) c.-99+33324A>C (n.-99+33324A>C) n.3720A>C n.3761A>C | |
| 17 | g.43091947T= | CA2260782452 | BRCA1 | n.3648A= c.3584A= (p.His1195=) c.3458A= (p.His1153=) c.3581A= (p.His1194=) c.3506A= (p.His1169=) c.785-915A= (n.785-915A=) c.647-915A= (n.647-915A=) c.2696A= (p.His899=) c.3461A= (p.His1154=) c.3443A= (p.His1148=) c.665-915A= (n.665-915A=) c.707-915A= (n.707-915A=) c.671-915A= (n.671-915A=) c.*3367A= (n.*3367A=) c.788-915A= (n.788-915A=) c.410-915A= (n.410-915A=) c.413-915A= (n.413-915A=) c.5-27996A= (n.5-27996A=) c.-43-17426A= (n.-43-17426A=) c.-99+33324A= (n.-99+33324A=) n.3720A= n.3761A= | |
| 17 | g.43091947_43091948delinsTG | CA2260782453 | BRCA1 | n.3647_3648delinsCA c.3583_3584delinsCA (p.His1195=) c.3457_3458delinsCA (p.His1153=) c.3580_3581delinsCA (p.His1194=) c.3505_3506delinsCA (p.His1169=) c.785-916_785-915delinsCA (n.785-916_785-915delinsCA) c.647-916_647-915delinsCA (n.647-916_647-915delinsCA) c.2695_2696delinsCA (p.His899=) c.3460_3461delinsCA (p.His1154=) c.3442_3443delinsCA (p.His1148=) c.665-916_665-915delinsCA (n.665-916_665-915delinsCA) c.707-916_707-915delinsCA (n.707-916_707-915delinsCA) c.671-916_671-915delinsCA (n.671-916_671-915delinsCA) c.*3366_*3367delinsCA (n.*3366_*3367delinsCA) c.788-916_788-915delinsCA (n.788-916_788-915delinsCA) c.410-916_410-915delinsCA (n.410-916_410-915delinsCA) c.413-916_413-915delinsCA (n.413-916_413-915delinsCA) c.5-27997_5-27996delinsCA (n.5-27997_5-27996delinsCA) c.-43-17427_-43-17426delinsCA (n.-43-17427_-43-17426delinsCA) c.-99+33323_-99+33324delinsCA (n.-99+33323_-99+33324delinsCA) n.3719_3720delinsCA n.3760_3761delinsCA | |
| 17 | g.43091948G>A | CA10580557 | BRCA1 | n.3647C>T c.3583C>T (p.His1195Tyr) c.3457C>T (p.His1153Tyr) c.3580C>T (p.His1194Tyr) c.3505C>T (p.His1169Tyr) c.785-916C>T (n.785-916C>T) c.647-916C>T (n.647-916C>T) c.2695C>T (p.His899Tyr) c.3460C>T (p.His1154Tyr) c.3442C>T (p.His1148Tyr) c.665-916C>T (n.665-916C>T) c.707-916C>T (n.707-916C>T) c.671-916C>T (n.671-916C>T) c.*3366C>T (n.*3366C>T) c.788-916C>T (n.788-916C>T) c.410-916C>T (n.410-916C>T) c.413-916C>T (n.413-916C>T) c.5-27997C>T (n.5-27997C>T) c.-43-17427C>T (n.-43-17427C>T) c.-99+33323C>T (n.-99+33323C>T) n.3719C>T n.3760C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.43091948G>C | CA10594797 | BRCA1 | n.3647C>G c.3583C>G (p.His1195Asp) c.3457C>G (p.His1153Asp) c.3580C>G (p.His1194Asp) c.3505C>G (p.His1169Asp) c.785-916C>G (n.785-916C>G) c.647-916C>G (n.647-916C>G) c.2695C>G (p.His899Asp) c.3460C>G (p.His1154Asp) c.3442C>G (p.His1148Asp) c.665-916C>G (n.665-916C>G) c.707-916C>G (n.707-916C>G) c.671-916C>G (n.671-916C>G) c.*3366C>G (n.*3366C>G) c.788-916C>G (n.788-916C>G) c.410-916C>G (n.410-916C>G) c.413-916C>G (n.413-916C>G) c.5-27997C>G (n.5-27997C>G) c.-43-17427C>G (n.-43-17427C>G) c.-99+33323C>G (n.-99+33323C>G) n.3719C>G n.3760C>G | ClinVar dbSNP |
| 17 | g.43091948G= | CA2260782454 | BRCA1 | n.3647C= c.3583C= (p.His1195=) c.3457C= (p.His1153=) c.3580C= (p.His1194=) c.3505C= (p.His1169=) c.785-916C= (n.785-916C=) c.647-916C= (n.647-916C=) c.2695C= (p.His899=) c.3460C= (p.His1154=) c.3442C= (p.His1148=) c.665-916C= (n.665-916C=) c.707-916C= (n.707-916C=) c.671-916C= (n.671-916C=) c.*3366C= (n.*3366C=) c.788-916C= (n.788-916C=) c.410-916C= (n.410-916C=) c.413-916C= (n.413-916C=) c.5-27997C= (n.5-27997C=) c.-43-17427C= (n.-43-17427C=) c.-99+33323C= (n.-99+33323C=) n.3719C= n.3760C= | |
| 17 | g.43091948G>T | CA10594798 | BRCA1 | n.3647C>A c.3583C>A (p.His1195Asn) c.3457C>A (p.His1153Asn) c.3580C>A (p.His1194Asn) c.3505C>A (p.His1169Asn) c.785-916C>A (n.785-916C>A) c.647-916C>A (n.647-916C>A) c.2695C>A (p.His899Asn) c.3460C>A (p.His1154Asn) c.3442C>A (p.His1148Asn) c.665-916C>A (n.665-916C>A) c.707-916C>A (n.707-916C>A) c.671-916C>A (n.671-916C>A) c.*3366C>A (n.*3366C>A) c.788-916C>A (n.788-916C>A) c.410-916C>A (n.410-916C>A) c.413-916C>A (n.413-916C>A) c.5-27997C>A (n.5-27997C>A) c.-43-17427C>A (n.-43-17427C>A) c.-99+33323C>A (n.-99+33323C>A) n.3719C>A n.3760C>A | dbSNP |
| 17 | g.43091950del | CA002282 | BRCA1 | n.3647del c.3583del (p.His1195IlefsTer15) c.3457del (p.His1153IlefsTer15) c.3580del (p.His1194IlefsTer15) c.3505del (p.His1169IlefsTer15) c.785-916del (n.785-916del) c.647-916del (n.647-916del) c.2695del (p.His899IlefsTer15) c.3460del (p.His1154IlefsTer15) c.3442del (p.His1148IlefsTer15) c.665-916del (n.665-916del) c.707-916del (n.707-916del) c.671-916del (n.671-916del) c.*3366del (n.*3366del) c.788-916del (n.788-916del) c.410-916del (n.410-916del) c.413-916del (n.413-916del) c.5-27997del (n.5-27997del) c.-43-17427del (n.-43-17427del) c.-99+33323del (n.-99+33323del) n.3719del n.3760del | ClinVar dbSNP |
| 17 | g.43091949G>A | CA002283 | BRCA1 | n.3646C>T c.3582C>T (p.Thr1194=) c.3456C>T (p.Thr1152=) c.3579C>T (p.Thr1193=) c.3504C>T (p.Thr1168=) c.785-917C>T (n.785-917C>T) c.647-917C>T (n.647-917C>T) c.2694C>T (p.Thr898=) c.3459C>T (p.Thr1153=) c.3441C>T (p.Thr1147=) c.665-917C>T (n.665-917C>T) c.707-917C>T (n.707-917C>T) c.671-917C>T (n.671-917C>T) c.*3365C>T (n.*3365C>T) c.788-917C>T (n.788-917C>T) c.410-917C>T (n.410-917C>T) c.413-917C>T (n.413-917C>T) c.5-27998C>T (n.5-27998C>T) c.-43-17428C>T (n.-43-17428C>T) c.-99+33322C>T (n.-99+33322C>T) n.3718C>T n.3759C>T | ClinVar dbSNP |
| 17 | g.43091949G>C | CA500232034 | BRCA1 | n.3646C>G c.3582C>G (p.Thr1194=) c.3456C>G (p.Thr1152=) c.3579C>G (p.Thr1193=) c.3504C>G (p.Thr1168=) c.785-917C>G (n.785-917C>G) c.647-917C>G (n.647-917C>G) c.2694C>G (p.Thr898=) c.3459C>G (p.Thr1153=) c.3441C>G (p.Thr1147=) c.665-917C>G (n.665-917C>G) c.707-917C>G (n.707-917C>G) c.671-917C>G (n.671-917C>G) c.*3365C>G (n.*3365C>G) c.788-917C>G (n.788-917C>G) c.410-917C>G (n.410-917C>G) c.413-917C>G (n.413-917C>G) c.5-27998C>G (n.5-27998C>G) c.-43-17428C>G (n.-43-17428C>G) c.-99+33322C>G (n.-99+33322C>G) n.3718C>G n.3759C>G | dbSNP |
| 17 | g.43091949G= | CA2260782455 | BRCA1 | n.3646C= c.3582C= (p.Thr1194=) c.3456C= (p.Thr1152=) c.3579C= (p.Thr1193=) c.3504C= (p.Thr1168=) c.785-917C= (n.785-917C=) c.647-917C= (n.647-917C=) c.2694C= (p.Thr898=) c.3459C= (p.Thr1153=) c.3441C= (p.Thr1147=) c.665-917C= (n.665-917C=) c.707-917C= (n.707-917C=) c.671-917C= (n.671-917C=) c.*3365C= (n.*3365C=) c.788-917C= (n.788-917C=) c.410-917C= (n.410-917C=) c.413-917C= (n.413-917C=) c.5-27998C= (n.5-27998C=) c.-43-17428C= (n.-43-17428C=) c.-99+33322C= (n.-99+33322C=) n.3718C= n.3759C= | |
| 17 | g.43091949G>T | CA500232035 | BRCA1 | n.3646C>A c.3582C>A (p.Thr1194=) c.3456C>A (p.Thr1152=) c.3579C>A (p.Thr1193=) c.3504C>A (p.Thr1168=) c.785-917C>A (n.785-917C>A) c.647-917C>A (n.647-917C>A) c.2694C>A (p.Thr898=) c.3459C>A (p.Thr1153=) c.3441C>A (p.Thr1147=) c.665-917C>A (n.665-917C>A) c.707-917C>A (n.707-917C>A) c.671-917C>A (n.671-917C>A) c.*3365C>A (n.*3365C>A) c.788-917C>A (n.788-917C>A) c.410-917C>A (n.410-917C>A) c.413-917C>A (n.413-917C>A) c.5-27998C>A (n.5-27998C>A) c.-43-17428C>A (n.-43-17428C>A) c.-99+33322C>A (n.-99+33322C>A) n.3718C>A n.3759C>A | dbSNP |
| 17 | g.43091950G>A | CA002281 | BRCA1 | n.3645C>T c.3581C>T (p.Thr1194Ile) c.3455C>T (p.Thr1152Ile) c.3578C>T (p.Thr1193Ile) c.3503C>T (p.Thr1168Ile) c.785-918C>T (n.785-918C>T) c.647-918C>T (n.647-918C>T) c.2693C>T (p.Thr898Ile) c.3458C>T (p.Thr1153Ile) c.3440C>T (p.Thr1147Ile) c.665-918C>T (n.665-918C>T) c.707-918C>T (n.707-918C>T) c.671-918C>T (n.671-918C>T) c.*3364C>T (n.*3364C>T) c.788-918C>T (n.788-918C>T) c.410-918C>T (n.410-918C>T) c.413-918C>T (n.413-918C>T) c.5-27999C>T (n.5-27999C>T) c.-43-17429C>T (n.-43-17429C>T) c.-99+33321C>T (n.-99+33321C>T) n.3717C>T n.3758C>T | ClinVar dbSNP gnomAD v4 |
| 17 | g.43091950G>C | CA10594799 | BRCA1 | n.3645C>G c.3581C>G (p.Thr1194Ser) c.3455C>G (p.Thr1152Ser) c.3578C>G (p.Thr1193Ser) c.3503C>G (p.Thr1168Ser) c.785-918C>G (n.785-918C>G) c.647-918C>G (n.647-918C>G) c.2693C>G (p.Thr898Ser) c.3458C>G (p.Thr1153Ser) c.3440C>G (p.Thr1147Ser) c.665-918C>G (n.665-918C>G) c.707-918C>G (n.707-918C>G) c.671-918C>G (n.671-918C>G) c.*3364C>G (n.*3364C>G) c.788-918C>G (n.788-918C>G) c.410-918C>G (n.410-918C>G) c.413-918C>G (n.413-918C>G) c.5-27999C>G (n.5-27999C>G) c.-43-17429C>G (n.-43-17429C>G) c.-99+33321C>G (n.-99+33321C>G) n.3717C>G n.3758C>G | ClinVar dbSNP |
| 17 | g.43091950G= | CA2260782456 | BRCA1 | n.3645C= c.3581C= (p.Thr1194=) c.3455C= (p.Thr1152=) c.3578C= (p.Thr1193=) c.3503C= (p.Thr1168=) c.785-918C= (n.785-918C=) c.647-918C= (n.647-918C=) c.2693C= (p.Thr898=) c.3458C= (p.Thr1153=) c.3440C= (p.Thr1147=) c.665-918C= (n.665-918C=) c.707-918C= (n.707-918C=) c.671-918C= (n.671-918C=) c.*3364C= (n.*3364C=) c.788-918C= (n.788-918C=) c.410-918C= (n.410-918C=) c.413-918C= (n.413-918C=) c.5-27999C= (n.5-27999C=) c.-43-17429C= (n.-43-17429C=) c.-99+33321C= (n.-99+33321C=) n.3717C= n.3758C= | |
| 17 | g.43091950G>T | CA10594800 | BRCA1 | n.3645C>A c.3581C>A (p.Thr1194Asn) c.3455C>A (p.Thr1152Asn) c.3578C>A (p.Thr1193Asn) c.3503C>A (p.Thr1168Asn) c.785-918C>A (n.785-918C>A) c.647-918C>A (n.647-918C>A) c.2693C>A (p.Thr898Asn) c.3458C>A (p.Thr1153Asn) c.3440C>A (p.Thr1147Asn) c.665-918C>A (n.665-918C>A) c.707-918C>A (n.707-918C>A) c.671-918C>A (n.671-918C>A) c.*3364C>A (n.*3364C>A) c.788-918C>A (n.788-918C>A) c.410-918C>A (n.410-918C>A) c.413-918C>A (n.413-918C>A) c.5-27999C>A (n.5-27999C>A) c.-43-17429C>A (n.-43-17429C>A) c.-99+33321C>A (n.-99+33321C>A) n.3717C>A n.3758C>A | |
| 17 | g.43091950_43091951delinsGT | CA2260782457 | BRCA1 | n.3644_3645delinsAC c.3580_3581delinsAC (p.Thr1194=) c.3454_3455delinsAC (p.Thr1152=) c.3577_3578delinsAC (p.Thr1193=) c.3502_3503delinsAC (p.Thr1168=) c.785-919_785-918delinsAC (n.785-919_785-918delinsAC) c.647-919_647-918delinsAC (n.647-919_647-918delinsAC) c.2692_2693delinsAC (p.Thr898=) c.3457_3458delinsAC (p.Thr1153=) c.3439_3440delinsAC (p.Thr1147=) c.665-919_665-918delinsAC (n.665-919_665-918delinsAC) c.707-919_707-918delinsAC (n.707-919_707-918delinsAC) c.671-919_671-918delinsAC (n.671-919_671-918delinsAC) c.*3363_*3364delinsAC (n.*3363_*3364delinsAC) c.788-919_788-918delinsAC (n.788-919_788-918delinsAC) c.410-919_410-918delinsAC (n.410-919_410-918delinsAC) c.413-919_413-918delinsAC (n.413-919_413-918delinsAC) c.5-28000_5-27999delinsAC (n.5-28000_5-27999delinsAC) c.-43-17430_-43-17429delinsAC (n.-43-17430_-43-17429delinsAC) c.-99+33320_-99+33321delinsAC (n.-99+33320_-99+33321delinsAC) n.3716_3717delinsAC n.3757_3758delinsAC | |
| 17 | g.43091950_43091953del | CA2580093820 | BRCA1 | n.3642_3645del c.3578_3581del (p.Phe1193SerfsTer16) c.3452_3455del (p.Phe1151SerfsTer16) c.3575_3578del (p.Phe1192SerfsTer16) c.3500_3503del (p.Phe1167SerfsTer16) c.785-921_785-918del (n.785-921_785-918del) c.647-921_647-918del (n.647-921_647-918del) c.2690_2693del (p.Phe897SerfsTer16) c.3455_3458del (p.Phe1152SerfsTer16) c.3437_3440del (p.Phe1146SerfsTer16) c.665-921_665-918del (n.665-921_665-918del) c.707-921_707-918del (n.707-921_707-918del) c.671-921_671-918del (n.671-921_671-918del) c.*3361_*3364del (n.*3361_*3364del) c.788-921_788-918del (n.788-921_788-918del) c.410-921_410-918del (n.410-921_410-918del) c.413-921_413-918del (n.413-921_413-918del) c.5-28002_5-27999del (n.5-28002_5-27999del) c.-43-17432_-43-17429del (n.-43-17432_-43-17429del) c.-99+33318_-99+33321del (n.-99+33318_-99+33321del) n.3714_3717del n.3755_3758del | ClinVar |
| 17 | g.43091950_43091951insA | CA658823969 | BRCA1 | n.3644_3645insT c.3580_3581insT (p.Thr1194IlefsTer25) c.3454_3455insT (p.Thr1152IlefsTer25) c.3577_3578insT (p.Thr1193IlefsTer25) c.3502_3503insT (p.Thr1168IlefsTer25) c.785-919_785-918insT (n.785-919_785-918insT) c.647-919_647-918insT (n.647-919_647-918insT) c.2692_2693insT (p.Thr898IlefsTer25) c.3457_3458insT (p.Thr1153IlefsTer25) c.3439_3440insT (p.Thr1147IlefsTer25) c.665-919_665-918insT (n.665-919_665-918insT) c.707-919_707-918insT (n.707-919_707-918insT) c.671-919_671-918insT (n.671-919_671-918insT) c.*3363_*3364insT (n.*3363_*3364insT) c.788-919_788-918insT (n.788-919_788-918insT) c.410-919_410-918insT (n.410-919_410-918insT) c.413-919_413-918insT (n.413-919_413-918insT) c.5-28000_5-27999insT (n.5-28000_5-27999insT) c.-43-17430_-43-17429insT (n.-43-17430_-43-17429insT) c.-99+33320_-99+33321insT (n.-99+33320_-99+33321insT) n.3716_3717insT n.3757_3758insT | ClinVar dbSNP |
| 17 | g.43091950_43091951insGGGT | CA2499224459 | BRCA1 | n.3644_3645insACCC c.3580_3581insACCC (p.Thr1194AsnfsTer26) c.3454_3455insACCC (p.Thr1152AsnfsTer26) c.3577_3578insACCC (p.Thr1193AsnfsTer26) c.3502_3503insACCC (p.Thr1168AsnfsTer26) c.785-919_785-918insACCC (n.785-919_785-918insACCC) c.647-919_647-918insACCC (n.647-919_647-918insACCC) c.2692_2693insACCC (p.Thr898AsnfsTer26) c.3457_3458insACCC (p.Thr1153AsnfsTer26) c.3439_3440insACCC (p.Thr1147AsnfsTer26) c.665-919_665-918insACCC (n.665-919_665-918insACCC) c.707-919_707-918insACCC (n.707-919_707-918insACCC) c.671-919_671-918insACCC (n.671-919_671-918insACCC) c.*3363_*3364insACCC (n.*3363_*3364insACCC) c.788-919_788-918insACCC (n.788-919_788-918insACCC) c.410-919_410-918insACCC (n.410-919_410-918insACCC) c.413-919_413-918insACCC (n.413-919_413-918insACCC) c.5-28000_5-27999insACCC (n.5-28000_5-27999insACCC) c.-43-17430_-43-17429insACCC (n.-43-17430_-43-17429insACCC) c.-99+33320_-99+33321insACCC (n.-99+33320_-99+33321insACCC) n.3716_3717insACCC n.3757_3758insACCC | |
| 17 | g.43091951del | CA002279 | BRCA1 | n.3644del c.3580del (p.Thr1194ProfsTer16) c.3454del (p.Thr1152ProfsTer16) c.3577del (p.Thr1193ProfsTer16) c.3502del (p.Thr1168ProfsTer16) c.785-919del (n.785-919del) c.647-919del (n.647-919del) c.2692del (p.Thr898ProfsTer16) c.3457del (p.Thr1153ProfsTer16) c.3439del (p.Thr1147ProfsTer16) c.665-919del (n.665-919del) c.707-919del (n.707-919del) c.671-919del (n.671-919del) c.*3363del (n.*3363del) c.788-919del (n.788-919del) c.410-919del (n.410-919del) c.413-919del (n.413-919del) c.5-28000del (n.5-28000del) c.-43-17430del (n.-43-17430del) c.-99+33320del (n.-99+33320del) n.3716del n.3757del | ClinVar dbSNP |
| 17 | g.43091951T>A | CA10594801 | BRCA1 | n.3644A>T c.3580A>T (p.Thr1194Ser) c.3454A>T (p.Thr1152Ser) c.3577A>T (p.Thr1193Ser) c.3502A>T (p.Thr1168Ser) c.785-919A>T (n.785-919A>T) c.647-919A>T (n.647-919A>T) c.2692A>T (p.Thr898Ser) c.3457A>T (p.Thr1153Ser) c.3439A>T (p.Thr1147Ser) c.665-919A>T (n.665-919A>T) c.707-919A>T (n.707-919A>T) c.671-919A>T (n.671-919A>T) c.*3363A>T (n.*3363A>T) c.788-919A>T (n.788-919A>T) c.410-919A>T (n.410-919A>T) c.413-919A>T (n.413-919A>T) c.5-28000A>T (n.5-28000A>T) c.-43-17430A>T (n.-43-17430A>T) c.-99+33320A>T (n.-99+33320A>T) n.3716A>T n.3757A>T | dbSNP |
| 17 | g.43091951T>C | CA059367 | BRCA1 | n.3644A>G c.3580A>G (p.Thr1194Ala) c.3454A>G (p.Thr1152Ala) c.3577A>G (p.Thr1193Ala) c.3502A>G (p.Thr1168Ala) c.785-919A>G (n.785-919A>G) c.647-919A>G (n.647-919A>G) c.2692A>G (p.Thr898Ala) c.3457A>G (p.Thr1153Ala) c.3439A>G (p.Thr1147Ala) c.665-919A>G (n.665-919A>G) c.707-919A>G (n.707-919A>G) c.671-919A>G (n.671-919A>G) c.*3363A>G (n.*3363A>G) c.788-919A>G (n.788-919A>G) c.410-919A>G (n.410-919A>G) c.413-919A>G (n.413-919A>G) c.5-28000A>G (n.5-28000A>G) c.-43-17430A>G (n.-43-17430A>G) c.-99+33320A>G (n.-99+33320A>G) n.3716A>G n.3757A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.43091951T>G | CA10594802 | BRCA1 | n.3644A>C c.3580A>C (p.Thr1194Pro) c.3454A>C (p.Thr1152Pro) c.3577A>C (p.Thr1193Pro) c.3502A>C (p.Thr1168Pro) c.785-919A>C (n.785-919A>C) c.647-919A>C (n.647-919A>C) c.2692A>C (p.Thr898Pro) c.3457A>C (p.Thr1153Pro) c.3439A>C (p.Thr1147Pro) c.665-919A>C (n.665-919A>C) c.707-919A>C (n.707-919A>C) c.671-919A>C (n.671-919A>C) c.*3363A>C (n.*3363A>C) c.788-919A>C (n.788-919A>C) c.410-919A>C (n.410-919A>C) c.413-919A>C (n.413-919A>C) c.5-28000A>C (n.5-28000A>C) c.-43-17430A>C (n.-43-17430A>C) c.-99+33320A>C (n.-99+33320A>C) n.3716A>C n.3757A>C | dbSNP |
| 17 | g.43091951T= | CA2260782458 | BRCA1 | n.3644A= c.3580A= (p.Thr1194=) c.3454A= (p.Thr1152=) c.3577A= (p.Thr1193=) c.3502A= (p.Thr1168=) c.785-919A= (n.785-919A=) c.647-919A= (n.647-919A=) c.2692A= (p.Thr898=) c.3457A= (p.Thr1153=) c.3439A= (p.Thr1147=) c.665-919A= (n.665-919A=) c.707-919A= (n.707-919A=) c.671-919A= (n.671-919A=) c.*3363A= (n.*3363A=) c.788-919A= (n.788-919A=) c.410-919A= (n.410-919A=) c.413-919A= (n.413-919A=) c.5-28000A= (n.5-28000A=) c.-43-17430A= (n.-43-17430A=) c.-99+33320A= (n.-99+33320A=) n.3716A= n.3757A= | |
| 17 | g.43091951_43091954dup | CA2499224460 | BRCA1 | n.3641_3644dup c.3577_3580dup (p.Thr1194IlefsTer26) c.3451_3454dup (p.Thr1152IlefsTer26) c.3574_3577dup (p.Thr1193IlefsTer26) c.3499_3502dup (p.Thr1168IlefsTer26) c.785-922_785-919dup (n.785-922_785-919dup) c.647-922_647-919dup (n.647-922_647-919dup) c.2689_2692dup (p.Thr898IlefsTer26) c.3454_3457dup (p.Thr1153IlefsTer26) c.3436_3439dup (p.Thr1147IlefsTer26) c.665-922_665-919dup (n.665-922_665-919dup) c.707-922_707-919dup (n.707-922_707-919dup) c.671-922_671-919dup (n.671-922_671-919dup) c.*3360_*3363dup (n.*3360_*3363dup) c.788-922_788-919dup (n.788-922_788-919dup) c.410-922_410-919dup (n.410-922_410-919dup) c.413-922_413-919dup (n.413-922_413-919dup) c.5-28003_5-28000dup (n.5-28003_5-28000dup) c.-43-17433_-43-17430dup (n.-43-17433_-43-17430dup) c.-99+33317_-99+33320dup (n.-99+33317_-99+33320dup) n.3713_3716dup n.3754_3757dup | |
| 17 | g.43091951_43091952insA | CA002278 | BRCA1 | n.3643_3644insT c.3579_3580insT (p.Thr1194TyrfsTer25) c.3453_3454insT (p.Thr1152TyrfsTer25) c.3576_3577insT (p.Thr1193TyrfsTer25) c.3501_3502insT (p.Thr1168TyrfsTer25) c.785-920_785-919insT (n.785-920_785-919insT) c.647-920_647-919insT (n.647-920_647-919insT) c.2691_2692insT (p.Thr898TyrfsTer25) c.3456_3457insT (p.Thr1153TyrfsTer25) c.3438_3439insT (p.Thr1147TyrfsTer25) c.665-920_665-919insT (n.665-920_665-919insT) c.707-920_707-919insT (n.707-920_707-919insT) c.671-920_671-919insT (n.671-920_671-919insT) c.*3362_*3363insT (n.*3362_*3363insT) c.788-920_788-919insT (n.788-920_788-919insT) c.410-920_410-919insT (n.410-920_410-919insT) c.413-920_413-919insT (n.413-920_413-919insT) c.5-28001_5-28000insT (n.5-28001_5-28000insT) c.-43-17431_-43-17430insT (n.-43-17431_-43-17430insT) c.-99+33319_-99+33320insT (n.-99+33319_-99+33320insT) n.3715_3716insT n.3756_3757insT | ClinVar dbSNP |
| 17 | g.43091952G>A | CA500232036 | BRCA1 | n.3643C>T c.3579C>T (p.Phe1193=) c.3453C>T (p.Phe1151=) c.3576C>T (p.Phe1192=) c.3501C>T (p.Phe1167=) c.785-920C>T (n.785-920C>T) c.647-920C>T (n.647-920C>T) c.2691C>T (p.Phe897=) c.3456C>T (p.Phe1152=) c.3438C>T (p.Phe1146=) c.665-920C>T (n.665-920C>T) c.707-920C>T (n.707-920C>T) c.671-920C>T (n.671-920C>T) c.*3362C>T (n.*3362C>T) c.788-920C>T (n.788-920C>T) c.410-920C>T (n.410-920C>T) c.413-920C>T (n.413-920C>T) c.5-28001C>T (n.5-28001C>T) c.-43-17431C>T (n.-43-17431C>T) c.-99+33319C>T (n.-99+33319C>T) n.3715C>T n.3756C>T | dbSNP |
| 17 | g.43091952G>C | CA10594803 | BRCA1 | n.3643C>G c.3579C>G (p.Phe1193Leu) c.3453C>G (p.Phe1151Leu) c.3576C>G (p.Phe1192Leu) c.3501C>G (p.Phe1167Leu) c.785-920C>G (n.785-920C>G) c.647-920C>G (n.647-920C>G) c.2691C>G (p.Phe897Leu) c.3456C>G (p.Phe1152Leu) c.3438C>G (p.Phe1146Leu) c.665-920C>G (n.665-920C>G) c.707-920C>G (n.707-920C>G) c.671-920C>G (n.671-920C>G) c.*3362C>G (n.*3362C>G) c.788-920C>G (n.788-920C>G) c.410-920C>G (n.410-920C>G) c.413-920C>G (n.413-920C>G) c.5-28001C>G (n.5-28001C>G) c.-43-17431C>G (n.-43-17431C>G) c.-99+33319C>G (n.-99+33319C>G) n.3715C>G n.3756C>G | ClinVar dbSNP |
| 17 | g.43091952G= | CA2260782459 | BRCA1 | n.3643C= c.3579C= (p.Phe1193=) c.3453C= (p.Phe1151=) c.3576C= (p.Phe1192=) c.3501C= (p.Phe1167=) c.785-920C= (n.785-920C=) c.647-920C= (n.647-920C=) c.2691C= (p.Phe897=) c.3456C= (p.Phe1152=) c.3438C= (p.Phe1146=) c.665-920C= (n.665-920C=) c.707-920C= (n.707-920C=) c.671-920C= (n.671-920C=) c.*3362C= (n.*3362C=) c.788-920C= (n.788-920C=) c.410-920C= (n.410-920C=) c.413-920C= (n.413-920C=) c.5-28001C= (n.5-28001C=) c.-43-17431C= (n.-43-17431C=) c.-99+33319C= (n.-99+33319C=) n.3715C= n.3756C= | |
| 17 | g.43091952G>T | CA10594804 | BRCA1 | n.3643C>A c.3579C>A (p.Phe1193Leu) c.3453C>A (p.Phe1151Leu) c.3576C>A (p.Phe1192Leu) c.3501C>A (p.Phe1167Leu) c.785-920C>A (n.785-920C>A) c.647-920C>A (n.647-920C>A) c.2691C>A (p.Phe897Leu) c.3456C>A (p.Phe1152Leu) c.3438C>A (p.Phe1146Leu) c.665-920C>A (n.665-920C>A) c.707-920C>A (n.707-920C>A) c.671-920C>A (n.671-920C>A) c.*3362C>A (n.*3362C>A) c.788-920C>A (n.788-920C>A) c.410-920C>A (n.410-920C>A) c.413-920C>A (n.413-920C>A) c.5-28001C>A (n.5-28001C>A) c.-43-17431C>A (n.-43-17431C>A) c.-99+33319C>A (n.-99+33319C>A) n.3715C>A n.3756C>A | |
| 17 | g.43091952_43091953del | CA2695225971 | BRCA1 | n.3642_3643del c.3578_3579del (p.Phe1193TyrfsTer25) c.3452_3453del (p.Phe1151TyrfsTer25) c.3575_3576del (p.Phe1192TyrfsTer25) c.3500_3501del (p.Phe1167TyrfsTer25) c.785-921_785-920del (n.785-921_785-920del) c.647-921_647-920del (n.647-921_647-920del) c.2690_2691del (p.Phe897TyrfsTer25) c.3455_3456del (p.Phe1152TyrfsTer25) c.3437_3438del (p.Phe1146TyrfsTer25) c.665-921_665-920del (n.665-921_665-920del) c.707-921_707-920del (n.707-921_707-920del) c.671-921_671-920del (n.671-921_671-920del) c.*3361_*3362del (n.*3361_*3362del) c.788-921_788-920del (n.788-921_788-920del) c.410-921_410-920del (n.410-921_410-920del) c.413-921_413-920del (n.413-921_413-920del) c.5-28002_5-28001del (n.5-28002_5-28001del) c.-43-17432_-43-17431del (n.-43-17432_-43-17431del) c.-99+33318_-99+33319del (n.-99+33318_-99+33319del) n.3714_3715del n.3755_3756del |