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.43092103_43092115delinsGATGCATGACTAC | CA2260782612 | BRCA1 | n.3480_3492delinsGTAGTCATGCATC c.3416_3428delinsGTAGTCATGCATC (p.Ser1139=) c.3290_3302delinsGTAGTCATGCATC (p.Ser1097=) c.3413_3425delinsGTAGTCATGCATC (p.Ser1138=) c.3338_3350delinsGTAGTCATGCATC (p.Ser1113=) c.785-1083_785-1071delinsGTAGTCATGCATC (n.785-1083_785-1071delinsGTAGTCATGCATC) c.647-1083_647-1071delinsGTAGTCATGCATC (n.647-1083_647-1071delinsGTAGTCATGCATC) c.2528_2540delinsGTAGTCATGCATC (p.Ser843=) c.3293_3305delinsGTAGTCATGCATC (p.Ser1098=) c.3275_3287delinsGTAGTCATGCATC (p.Ser1092=) c.665-1083_665-1071delinsGTAGTCATGCATC (n.665-1083_665-1071delinsGTAGTCATGCATC) c.707-1083_707-1071delinsGTAGTCATGCATC (n.707-1083_707-1071delinsGTAGTCATGCATC) c.671-1083_671-1071delinsGTAGTCATGCATC (n.671-1083_671-1071delinsGTAGTCATGCATC) c.*3199_*3211delinsGTAGTCATGCATC (n.*3199_*3211delinsGTAGTCATGCATC) c.788-1083_788-1071delinsGTAGTCATGCATC (n.788-1083_788-1071delinsGTAGTCATGCATC) c.410-1083_410-1071delinsGTAGTCATGCATC (n.410-1083_410-1071delinsGTAGTCATGCATC) c.413-1083_413-1071delinsGTAGTCATGCATC (n.413-1083_413-1071delinsGTAGTCATGCATC) c.5-28164_5-28152delinsGTAGTCATGCATC (n.5-28164_5-28152delinsGTAGTCATGCATC) c.-43-17594_-43-17582delinsGTAGTCATGCATC (n.-43-17594_-43-17582delinsGTAGTCATGCATC) c.-99+33156_-99+33168delinsGTAGTCATGCATC (n.-99+33156_-99+33168delinsGTAGTCATGCATC) n.3552_3564delinsGTAGTCATGCATC n.3593_3605delinsGTAGTCATGCATC | |
| 17 | g.43092104_43092115delinsG | CA10589753 | BRCA1 | n.3480_3491delinsC c.3416_3427delinsC (p.Ser1139ThrfsTer6) c.3290_3301delinsC (p.Ser1097ThrfsTer6) c.3413_3424delinsC (p.Ser1138ThrfsTer6) c.3338_3349delinsC (p.Ser1113ThrfsTer6) c.785-1083_785-1072delinsC (n.785-1083_785-1072delinsC) c.647-1083_647-1072delinsC (n.647-1083_647-1072delinsC) c.2528_2539delinsC (p.Ser843ThrfsTer6) c.3293_3304delinsC (p.Ser1098ThrfsTer6) c.3275_3286delinsC (p.Ser1092ThrfsTer6) c.665-1083_665-1072delinsC (n.665-1083_665-1072delinsC) c.707-1083_707-1072delinsC (n.707-1083_707-1072delinsC) c.671-1083_671-1072delinsC (n.671-1083_671-1072delinsC) c.*3199_*3210delinsC (n.*3199_*3210delinsC) c.788-1083_788-1072delinsC (n.788-1083_788-1072delinsC) c.410-1083_410-1072delinsC (n.410-1083_410-1072delinsC) c.413-1083_413-1072delinsC (n.413-1083_413-1072delinsC) c.5-28164_5-28153delinsC (n.5-28164_5-28153delinsC) c.-43-17594_-43-17583delinsC (n.-43-17594_-43-17583delinsC) c.-99+33156_-99+33167delinsC (n.-99+33156_-99+33167delinsC) n.3552_3563delinsC n.3593_3604delinsC | ClinVar dbSNP |
| 17 | g.43092108A= | CA2260782617 | BRCA1 | n.3487T= c.3423T= (p.His1141=) c.3297T= (p.His1099=) c.3420T= (p.His1140=) c.3345T= (p.His1115=) c.785-1076T= (n.785-1076T=) c.647-1076T= (n.647-1076T=) c.2535T= (p.His845=) c.3300T= (p.His1100=) c.3282T= (p.His1094=) c.665-1076T= (n.665-1076T=) c.707-1076T= (n.707-1076T=) c.671-1076T= (n.671-1076T=) c.*3206T= (n.*3206T=) c.788-1076T= (n.788-1076T=) c.410-1076T= (n.410-1076T=) c.413-1076T= (n.413-1076T=) c.5-28157T= (n.5-28157T=) c.-43-17587T= (n.-43-17587T=) c.-99+33163T= (n.-99+33163T=) n.3559T= n.3600T= | |
| 17 | g.43092108A>C | CA10595132 | BRCA1 | n.3487T>G c.3423T>G (p.His1141Gln) c.3297T>G (p.His1099Gln) c.3420T>G (p.His1140Gln) c.3345T>G (p.His1115Gln) c.785-1076T>G (n.785-1076T>G) c.647-1076T>G (n.647-1076T>G) c.2535T>G (p.His845Gln) c.3300T>G (p.His1100Gln) c.3282T>G (p.His1094Gln) c.665-1076T>G (n.665-1076T>G) c.707-1076T>G (n.707-1076T>G) c.671-1076T>G (n.671-1076T>G) c.*3206T>G (n.*3206T>G) c.788-1076T>G (n.788-1076T>G) c.410-1076T>G (n.410-1076T>G) c.413-1076T>G (n.413-1076T>G) c.5-28157T>G (n.5-28157T>G) c.-43-17587T>G (n.-43-17587T>G) c.-99+33163T>G (n.-99+33163T>G) n.3559T>G n.3600T>G | dbSNP |
| 17 | g.43092108A>G | CA338223 | BRCA1 | n.3487T>C c.3423T>C (p.His1141=) c.3297T>C (p.His1099=) c.3420T>C (p.His1140=) c.3345T>C (p.His1115=) c.785-1076T>C (n.785-1076T>C) c.647-1076T>C (n.647-1076T>C) c.2535T>C (p.His845=) c.3300T>C (p.His1100=) c.3282T>C (p.His1094=) c.665-1076T>C (n.665-1076T>C) c.707-1076T>C (n.707-1076T>C) c.671-1076T>C (n.671-1076T>C) c.*3206T>C (n.*3206T>C) c.788-1076T>C (n.788-1076T>C) c.410-1076T>C (n.410-1076T>C) c.413-1076T>C (n.413-1076T>C) c.5-28157T>C (n.5-28157T>C) c.-43-17587T>C (n.-43-17587T>C) c.-99+33163T>C (n.-99+33163T>C) n.3559T>C n.3600T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.43092108A>T | CA10595133 | BRCA1 | n.3487T>A c.3423T>A (p.His1141Gln) c.3297T>A (p.His1099Gln) c.3420T>A (p.His1140Gln) c.3345T>A (p.His1115Gln) c.785-1076T>A (n.785-1076T>A) c.647-1076T>A (n.647-1076T>A) c.2535T>A (p.His845Gln) c.3300T>A (p.His1100Gln) c.3282T>A (p.His1094Gln) c.665-1076T>A (n.665-1076T>A) c.707-1076T>A (n.707-1076T>A) c.671-1076T>A (n.671-1076T>A) c.*3206T>A (n.*3206T>A) c.788-1076T>A (n.788-1076T>A) c.410-1076T>A (n.410-1076T>A) c.413-1076T>A (n.413-1076T>A) c.5-28157T>A (n.5-28157T>A) c.-43-17587T>A (n.-43-17587T>A) c.-99+33163T>A (n.-99+33163T>A) n.3559T>A n.3600T>A | ClinVar dbSNP |
| 17 | g.43092108dup | CA919844513 | BRCA1 | n.3487dup c.3423dup (p.Ala1142CysfsTer7) c.3297dup (p.Ala1100CysfsTer7) c.3420dup (p.Ala1141CysfsTer7) c.3345dup (p.Ala1116CysfsTer7) c.785-1076dup (n.785-1076dup) c.647-1076dup (n.647-1076dup) c.2535dup (p.Ala846CysfsTer7) c.3300dup (p.Ala1101CysfsTer7) c.3282dup (p.Ala1095CysfsTer7) c.665-1076dup (n.665-1076dup) c.707-1076dup (n.707-1076dup) c.671-1076dup (n.671-1076dup) c.*3206dup (n.*3206dup) c.788-1076dup (n.788-1076dup) c.410-1076dup (n.410-1076dup) c.413-1076dup (n.413-1076dup) c.5-28157dup (n.5-28157dup) c.-43-17587dup (n.-43-17587dup) c.-99+33163dup (n.-99+33163dup) n.3559dup n.3600dup | dbSNP |
| 17 | g.43092109T>A | CA10595134 | BRCA1 | n.3486A>T c.3422A>T (p.His1141Leu) c.3296A>T (p.His1099Leu) c.3419A>T (p.His1140Leu) c.3344A>T (p.His1115Leu) c.785-1077A>T (n.785-1077A>T) c.647-1077A>T (n.647-1077A>T) c.2534A>T (p.His845Leu) c.3299A>T (p.His1100Leu) c.3281A>T (p.His1094Leu) c.665-1077A>T (n.665-1077A>T) c.707-1077A>T (n.707-1077A>T) c.671-1077A>T (n.671-1077A>T) c.*3205A>T (n.*3205A>T) c.788-1077A>T (n.788-1077A>T) c.410-1077A>T (n.410-1077A>T) c.413-1077A>T (n.413-1077A>T) c.5-28158A>T (n.5-28158A>T) c.-43-17588A>T (n.-43-17588A>T) c.-99+33162A>T (n.-99+33162A>T) n.3558A>T n.3599A>T | dbSNP |
| 17 | g.43092109T>C | CA10595135 | BRCA1 | n.3486A>G c.3422A>G (p.His1141Arg) c.3296A>G (p.His1099Arg) c.3419A>G (p.His1140Arg) c.3344A>G (p.His1115Arg) c.785-1077A>G (n.785-1077A>G) c.647-1077A>G (n.647-1077A>G) c.2534A>G (p.His845Arg) c.3299A>G (p.His1100Arg) c.3281A>G (p.His1094Arg) c.665-1077A>G (n.665-1077A>G) c.707-1077A>G (n.707-1077A>G) c.671-1077A>G (n.671-1077A>G) c.*3205A>G (n.*3205A>G) c.788-1077A>G (n.788-1077A>G) c.410-1077A>G (n.410-1077A>G) c.413-1077A>G (n.413-1077A>G) c.5-28158A>G (n.5-28158A>G) c.-43-17588A>G (n.-43-17588A>G) c.-99+33162A>G (n.-99+33162A>G) n.3558A>G n.3599A>G | dbSNP |
| 17 | g.43092109T>G | CA10595136 | BRCA1 | n.3486A>C c.3422A>C (p.His1141Pro) c.3296A>C (p.His1099Pro) c.3419A>C (p.His1140Pro) c.3344A>C (p.His1115Pro) c.785-1077A>C (n.785-1077A>C) c.647-1077A>C (n.647-1077A>C) c.2534A>C (p.His845Pro) c.3299A>C (p.His1100Pro) c.3281A>C (p.His1094Pro) c.665-1077A>C (n.665-1077A>C) c.707-1077A>C (n.707-1077A>C) c.671-1077A>C (n.671-1077A>C) c.*3205A>C (n.*3205A>C) c.788-1077A>C (n.788-1077A>C) c.410-1077A>C (n.410-1077A>C) c.413-1077A>C (n.413-1077A>C) c.5-28158A>C (n.5-28158A>C) c.-43-17588A>C (n.-43-17588A>C) c.-99+33162A>C (n.-99+33162A>C) n.3558A>C n.3599A>C | ClinVar |
| 17 | g.43092109T= | CA2260782618 | BRCA1 | n.3486A= c.3422A= (p.His1141=) c.3296A= (p.His1099=) c.3419A= (p.His1140=) c.3344A= (p.His1115=) c.785-1077A= (n.785-1077A=) c.647-1077A= (n.647-1077A=) c.2534A= (p.His845=) c.3299A= (p.His1100=) c.3281A= (p.His1094=) c.665-1077A= (n.665-1077A=) c.707-1077A= (n.707-1077A=) c.671-1077A= (n.671-1077A=) c.*3205A= (n.*3205A=) c.788-1077A= (n.788-1077A=) c.410-1077A= (n.410-1077A=) c.413-1077A= (n.413-1077A=) c.5-28158A= (n.5-28158A=) c.-43-17588A= (n.-43-17588A=) c.-99+33162A= (n.-99+33162A=) n.3558A= n.3599A= | |
| 17 | g.43092109_43092110insA | CA919844514 | BRCA1 | n.3485_3486insT c.3421_3422insT (p.His1141LeufsTer8) c.3295_3296insT (p.His1099LeufsTer8) c.3418_3419insT (p.His1140LeufsTer8) c.3343_3344insT (p.His1115LeufsTer8) c.785-1078_785-1077insT (n.785-1078_785-1077insT) c.647-1078_647-1077insT (n.647-1078_647-1077insT) c.2533_2534insT (p.His845LeufsTer8) c.3298_3299insT (p.His1100LeufsTer8) c.3280_3281insT (p.His1094LeufsTer8) c.665-1078_665-1077insT (n.665-1078_665-1077insT) c.707-1078_707-1077insT (n.707-1078_707-1077insT) c.671-1078_671-1077insT (n.671-1078_671-1077insT) c.*3204_*3205insT (n.*3204_*3205insT) c.788-1078_788-1077insT (n.788-1078_788-1077insT) c.410-1078_410-1077insT (n.410-1078_410-1077insT) c.413-1078_413-1077insT (n.413-1078_413-1077insT) c.5-28159_5-28158insT (n.5-28159_5-28158insT) c.-43-17589_-43-17588insT (n.-43-17589_-43-17588insT) c.-99+33161_-99+33162insT (n.-99+33161_-99+33162insT) n.3557_3558insT n.3598_3599insT | dbSNP |
| 17 | g.43092110G>A | CA10595137 | BRCA1 | n.3485C>T c.3421C>T (p.His1141Tyr) c.3295C>T (p.His1099Tyr) c.3418C>T (p.His1140Tyr) c.3343C>T (p.His1115Tyr) c.785-1078C>T (n.785-1078C>T) c.647-1078C>T (n.647-1078C>T) c.2533C>T (p.His845Tyr) c.3298C>T (p.His1100Tyr) c.3280C>T (p.His1094Tyr) c.665-1078C>T (n.665-1078C>T) c.707-1078C>T (n.707-1078C>T) c.671-1078C>T (n.671-1078C>T) c.*3204C>T (n.*3204C>T) c.788-1078C>T (n.788-1078C>T) c.410-1078C>T (n.410-1078C>T) c.413-1078C>T (n.413-1078C>T) c.5-28159C>T (n.5-28159C>T) c.-43-17589C>T (n.-43-17589C>T) c.-99+33161C>T (n.-99+33161C>T) n.3557C>T n.3598C>T | ClinVar dbSNP |
| 17 | g.43092110G>C | CA10595138 | BRCA1 | n.3485C>G c.3421C>G (p.His1141Asp) c.3295C>G (p.His1099Asp) c.3418C>G (p.His1140Asp) c.3343C>G (p.His1115Asp) c.785-1078C>G (n.785-1078C>G) c.647-1078C>G (n.647-1078C>G) c.2533C>G (p.His845Asp) c.3298C>G (p.His1100Asp) c.3280C>G (p.His1094Asp) c.665-1078C>G (n.665-1078C>G) c.707-1078C>G (n.707-1078C>G) c.671-1078C>G (n.671-1078C>G) c.*3204C>G (n.*3204C>G) c.788-1078C>G (n.788-1078C>G) c.410-1078C>G (n.410-1078C>G) c.413-1078C>G (n.413-1078C>G) c.5-28159C>G (n.5-28159C>G) c.-43-17589C>G (n.-43-17589C>G) c.-99+33161C>G (n.-99+33161C>G) n.3557C>G n.3598C>G | dbSNP |
| 17 | g.43092110G= | CA2260782620 | BRCA1 | n.3485C= c.3421C= (p.His1141=) c.3295C= (p.His1099=) c.3418C= (p.His1140=) c.3343C= (p.His1115=) c.785-1078C= (n.785-1078C=) c.647-1078C= (n.647-1078C=) c.2533C= (p.His845=) c.3298C= (p.His1100=) c.3280C= (p.His1094=) c.665-1078C= (n.665-1078C=) c.707-1078C= (n.707-1078C=) c.671-1078C= (n.671-1078C=) c.*3204C= (n.*3204C=) c.788-1078C= (n.788-1078C=) c.410-1078C= (n.410-1078C=) c.413-1078C= (n.413-1078C=) c.5-28159C= (n.5-28159C=) c.-43-17589C= (n.-43-17589C=) c.-99+33161C= (n.-99+33161C=) n.3557C= n.3598C= | |
| 17 | g.43092110G>T | CA10595139 | BRCA1 | n.3485C>A c.3421C>A (p.His1141Asn) c.3295C>A (p.His1099Asn) c.3418C>A (p.His1140Asn) c.3343C>A (p.His1115Asn) c.785-1078C>A (n.785-1078C>A) c.647-1078C>A (n.647-1078C>A) c.2533C>A (p.His845Asn) c.3298C>A (p.His1100Asn) c.3280C>A (p.His1094Asn) c.665-1078C>A (n.665-1078C>A) c.707-1078C>A (n.707-1078C>A) c.671-1078C>A (n.671-1078C>A) c.*3204C>A (n.*3204C>A) c.788-1078C>A (n.788-1078C>A) c.410-1078C>A (n.410-1078C>A) c.413-1078C>A (n.413-1078C>A) c.5-28159C>A (n.5-28159C>A) c.-43-17589C>A (n.-43-17589C>A) c.-99+33161C>A (n.-99+33161C>A) n.3557C>A n.3598C>A | dbSNP gnomAD v4 |
| 17 | g.43092110_43092113delinsGACT | CA2260782619 | BRCA1 | n.3482_3485delinsAGTC c.3418_3421delinsAGTC (p.Ser1140=) c.3292_3295delinsAGTC (p.Ser1098=) c.3415_3418delinsAGTC (p.Ser1139=) c.3340_3343delinsAGTC (p.Ser1114=) c.785-1081_785-1078delinsAGTC (n.785-1081_785-1078delinsAGTC) c.647-1081_647-1078delinsAGTC (n.647-1081_647-1078delinsAGTC) c.2530_2533delinsAGTC (p.Ser844=) c.3295_3298delinsAGTC (p.Ser1099=) c.3277_3280delinsAGTC (p.Ser1093=) c.665-1081_665-1078delinsAGTC (n.665-1081_665-1078delinsAGTC) c.707-1081_707-1078delinsAGTC (n.707-1081_707-1078delinsAGTC) c.671-1081_671-1078delinsAGTC (n.671-1081_671-1078delinsAGTC) c.*3201_*3204delinsAGTC (n.*3201_*3204delinsAGTC) c.788-1081_788-1078delinsAGTC (n.788-1081_788-1078delinsAGTC) c.410-1081_410-1078delinsAGTC (n.410-1081_410-1078delinsAGTC) c.413-1081_413-1078delinsAGTC (n.413-1081_413-1078delinsAGTC) c.5-28162_5-28159delinsAGTC (n.5-28162_5-28159delinsAGTC) c.-43-17592_-43-17589delinsAGTC (n.-43-17592_-43-17589delinsAGTC) c.-99+33158_-99+33161delinsAGTC (n.-99+33158_-99+33161delinsAGTC) n.3554_3557delinsAGTC n.3595_3598delinsAGTC | |
| 17 | g.43092111A>C | CA10595140 | BRCA1 | n.3484T>G c.3420T>G (p.Ser1140Arg) c.3294T>G (p.Ser1098Arg) c.3417T>G (p.Ser1139Arg) c.3342T>G (p.Ser1114Arg) c.785-1079T>G (n.785-1079T>G) c.647-1079T>G (n.647-1079T>G) c.2532T>G (p.Ser844Arg) c.3297T>G (p.Ser1099Arg) c.3279T>G (p.Ser1093Arg) c.665-1079T>G (n.665-1079T>G) c.707-1079T>G (n.707-1079T>G) c.671-1079T>G (n.671-1079T>G) c.*3203T>G (n.*3203T>G) c.788-1079T>G (n.788-1079T>G) c.410-1079T>G (n.410-1079T>G) c.413-1079T>G (n.413-1079T>G) c.5-28160T>G (n.5-28160T>G) c.-43-17590T>G (n.-43-17590T>G) c.-99+33160T>G (n.-99+33160T>G) n.3556T>G n.3597T>G | dbSNP |
| 17 | g.43092111A>G | CA500232532 | BRCA1 | n.3484T>C c.3420T>C (p.Ser1140=) c.3294T>C (p.Ser1098=) c.3417T>C (p.Ser1139=) c.3342T>C (p.Ser1114=) c.785-1079T>C (n.785-1079T>C) c.647-1079T>C (n.647-1079T>C) c.2532T>C (p.Ser844=) c.3297T>C (p.Ser1099=) c.3279T>C (p.Ser1093=) c.665-1079T>C (n.665-1079T>C) c.707-1079T>C (n.707-1079T>C) c.671-1079T>C (n.671-1079T>C) c.*3203T>C (n.*3203T>C) c.788-1079T>C (n.788-1079T>C) c.410-1079T>C (n.410-1079T>C) c.413-1079T>C (n.413-1079T>C) c.5-28160T>C (n.5-28160T>C) c.-43-17590T>C (n.-43-17590T>C) c.-99+33160T>C (n.-99+33160T>C) n.3556T>C n.3597T>C | ClinVar dbSNP |
| 17 | g.43092111A>T | CA10595141 | BRCA1 | n.3484T>A c.3420T>A (p.Ser1140Arg) c.3294T>A (p.Ser1098Arg) c.3417T>A (p.Ser1139Arg) c.3342T>A (p.Ser1114Arg) c.785-1079T>A (n.785-1079T>A) c.647-1079T>A (n.647-1079T>A) c.2532T>A (p.Ser844Arg) c.3297T>A (p.Ser1099Arg) c.3279T>A (p.Ser1093Arg) c.665-1079T>A (n.665-1079T>A) c.707-1079T>A (n.707-1079T>A) c.671-1079T>A (n.671-1079T>A) c.*3203T>A (n.*3203T>A) c.788-1079T>A (n.788-1079T>A) c.410-1079T>A (n.410-1079T>A) c.413-1079T>A (n.413-1079T>A) c.5-28160T>A (n.5-28160T>A) c.-43-17590T>A (n.-43-17590T>A) c.-99+33160T>A (n.-99+33160T>A) n.3556T>A n.3597T>A | dbSNP gnomAD v4 |
| 17 | g.43092111_43092112insAGTAGTCA | CA919844515 | BRCA1 | n.3484_3485insGACTACTT c.3420_3421insGACTACTT (p.His1141AspfsTer17) c.3294_3295insGACTACTT (p.His1099AspfsTer17) c.3417_3418insGACTACTT (p.His1140AspfsTer17) c.3342_3343insGACTACTT (p.His1115AspfsTer17) c.785-1079_785-1078insGACTACTT (n.785-1079_785-1078insGACTACTT) c.647-1079_647-1078insGACTACTT (n.647-1079_647-1078insGACTACTT) c.2532_2533insGACTACTT (p.His845AspfsTer17) c.3297_3298insGACTACTT (p.His1100AspfsTer17) c.3279_3280insGACTACTT (p.His1094AspfsTer17) c.665-1079_665-1078insGACTACTT (n.665-1079_665-1078insGACTACTT) c.707-1079_707-1078insGACTACTT (n.707-1079_707-1078insGACTACTT) c.671-1079_671-1078insGACTACTT (n.671-1079_671-1078insGACTACTT) c.*3203_*3204insGACTACTT (n.*3203_*3204insGACTACTT) c.788-1079_788-1078insGACTACTT (n.788-1079_788-1078insGACTACTT) c.410-1079_410-1078insGACTACTT (n.410-1079_410-1078insGACTACTT) c.413-1079_413-1078insGACTACTT (n.413-1079_413-1078insGACTACTT) c.5-28160_5-28159insGACTACTT (n.5-28160_5-28159insGACTACTT) c.-43-17590_-43-17589insGACTACTT (n.-43-17590_-43-17589insGACTACTT) c.-99+33160_-99+33161insGACTACTT (n.-99+33160_-99+33161insGACTACTT) n.3556_3557insGACTACTT n.3597_3598insGACTACTT | dbSNP |
| 17 | g.43092111dup | CA327866 | BRCA1 | n.3484dup c.3420dup (p.His1141SerfsTer8) c.3294dup (p.His1099SerfsTer8) c.3417dup (p.His1140SerfsTer8) c.3342dup (p.His1115SerfsTer8) c.785-1079dup (n.785-1079dup) c.647-1079dup (n.647-1079dup) c.2532dup (p.His845SerfsTer8) c.3297dup (p.His1100SerfsTer8) c.3279dup (p.His1094SerfsTer8) c.665-1079dup (n.665-1079dup) c.707-1079dup (n.707-1079dup) c.671-1079dup (n.671-1079dup) c.*3203dup (n.*3203dup) c.788-1079dup (n.788-1079dup) c.410-1079dup (n.410-1079dup) c.413-1079dup (n.413-1079dup) c.5-28160dup (n.5-28160dup) c.-43-17590dup (n.-43-17590dup) c.-99+33160dup (n.-99+33160dup) n.3556dup n.3597dup | ClinVar dbSNP |
| 17 | g.43092114_43092116del | CA002211 | BRCA1 | n.3482_3484del c.3418_3420del (p.Ser1140del) c.3292_3294del (p.Ser1098del) c.3415_3417del (p.Ser1139del) c.3340_3342del (p.Ser1114del) c.785-1081_785-1079del (n.785-1081_785-1079del) c.647-1081_647-1079del (n.647-1081_647-1079del) c.2530_2532del (p.Ser844del) c.3295_3297del (p.Ser1099del) c.3277_3279del (p.Ser1093del) c.665-1081_665-1079del (n.665-1081_665-1079del) c.707-1081_707-1079del (n.707-1081_707-1079del) c.671-1081_671-1079del (n.671-1081_671-1079del) c.*3201_*3203del (n.*3201_*3203del) c.788-1081_788-1079del (n.788-1081_788-1079del) c.410-1081_410-1079del (n.410-1081_410-1079del) c.413-1081_413-1079del (n.413-1081_413-1079del) c.5-28162_5-28160del (n.5-28162_5-28160del) c.-43-17592_-43-17590del (n.-43-17592_-43-17590del) c.-99+33158_-99+33160del (n.-99+33158_-99+33160del) n.3554_3556del n.3595_3597del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.43092112C>A | CA10595142 | BRCA1 | n.3483G>T c.3419G>T (p.Ser1140Ile) c.3293G>T (p.Ser1098Ile) c.3416G>T (p.Ser1139Ile) c.3341G>T (p.Ser1114Ile) c.785-1080G>T (n.785-1080G>T) c.647-1080G>T (n.647-1080G>T) c.2531G>T (p.Ser844Ile) c.3296G>T (p.Ser1099Ile) c.3278G>T (p.Ser1093Ile) c.665-1080G>T (n.665-1080G>T) c.707-1080G>T (n.707-1080G>T) c.671-1080G>T (n.671-1080G>T) c.*3202G>T (n.*3202G>T) c.788-1080G>T (n.788-1080G>T) c.410-1080G>T (n.410-1080G>T) c.413-1080G>T (n.413-1080G>T) c.5-28161G>T (n.5-28161G>T) c.-43-17591G>T (n.-43-17591G>T) c.-99+33159G>T (n.-99+33159G>T) n.3555G>T n.3596G>T | dbSNP |
| 17 | g.43092112C= | CA2260782621 | BRCA1 | n.3483G= c.3419G= (p.Ser1140=) c.3293G= (p.Ser1098=) c.3416G= (p.Ser1139=) c.3341G= (p.Ser1114=) c.785-1080G= (n.785-1080G=) c.647-1080G= (n.647-1080G=) c.2531G= (p.Ser844=) c.3296G= (p.Ser1099=) c.3278G= (p.Ser1093=) c.665-1080G= (n.665-1080G=) c.707-1080G= (n.707-1080G=) c.671-1080G= (n.671-1080G=) c.*3202G= (n.*3202G=) c.788-1080G= (n.788-1080G=) c.410-1080G= (n.410-1080G=) c.413-1080G= (n.413-1080G=) c.5-28161G= (n.5-28161G=) c.-43-17591G= (n.-43-17591G=) c.-99+33159G= (n.-99+33159G=) n.3555G= n.3596G= | |
| 17 | g.43092112C>G | CA10595143 | BRCA1 | n.3483G>C c.3419G>C (p.Ser1140Thr) c.3293G>C (p.Ser1098Thr) c.3416G>C (p.Ser1139Thr) c.3341G>C (p.Ser1114Thr) c.785-1080G>C (n.785-1080G>C) c.647-1080G>C (n.647-1080G>C) c.2531G>C (p.Ser844Thr) c.3296G>C (p.Ser1099Thr) c.3278G>C (p.Ser1093Thr) c.665-1080G>C (n.665-1080G>C) c.707-1080G>C (n.707-1080G>C) c.671-1080G>C (n.671-1080G>C) c.*3202G>C (n.*3202G>C) c.788-1080G>C (n.788-1080G>C) c.410-1080G>C (n.410-1080G>C) c.413-1080G>C (n.413-1080G>C) c.5-28161G>C (n.5-28161G>C) c.-43-17591G>C (n.-43-17591G>C) c.-99+33159G>C (n.-99+33159G>C) n.3555G>C n.3596G>C | dbSNP |
| 17 | g.43092112C>T | CA10595144 | BRCA1 | n.3483G>A c.3419G>A (p.Ser1140Asn) c.3293G>A (p.Ser1098Asn) c.3416G>A (p.Ser1139Asn) c.3341G>A (p.Ser1114Asn) c.785-1080G>A (n.785-1080G>A) c.647-1080G>A (n.647-1080G>A) c.2531G>A (p.Ser844Asn) c.3296G>A (p.Ser1099Asn) c.3278G>A (p.Ser1093Asn) c.665-1080G>A (n.665-1080G>A) c.707-1080G>A (n.707-1080G>A) c.671-1080G>A (n.671-1080G>A) c.*3202G>A (n.*3202G>A) c.788-1080G>A (n.788-1080G>A) c.410-1080G>A (n.410-1080G>A) c.413-1080G>A (n.413-1080G>A) c.5-28161G>A (n.5-28161G>A) c.-43-17591G>A (n.-43-17591G>A) c.-99+33159G>A (n.-99+33159G>A) n.3555G>A n.3596G>A | ClinVar dbSNP |
| 17 | g.43092112_43092113insAGTAGTCA | CA2499224467 | BRCA1 | n.3482_3483insTGACTACT c.3418_3419insTGACTACT (p.Ser1140MetfsTer18) c.3292_3293insTGACTACT (p.Ser1098MetfsTer18) c.3415_3416insTGACTACT (p.Ser1139MetfsTer18) c.3340_3341insTGACTACT (p.Ser1114MetfsTer18) c.785-1081_785-1080insTGACTACT (n.785-1081_785-1080insTGACTACT) c.647-1081_647-1080insTGACTACT (n.647-1081_647-1080insTGACTACT) c.2530_2531insTGACTACT (p.Ser844MetfsTer18) c.3295_3296insTGACTACT (p.Ser1099MetfsTer18) c.3277_3278insTGACTACT (p.Ser1093MetfsTer18) c.665-1081_665-1080insTGACTACT (n.665-1081_665-1080insTGACTACT) c.707-1081_707-1080insTGACTACT (n.707-1081_707-1080insTGACTACT) c.671-1081_671-1080insTGACTACT (n.671-1081_671-1080insTGACTACT) c.*3201_*3202insTGACTACT (n.*3201_*3202insTGACTACT) c.788-1081_788-1080insTGACTACT (n.788-1081_788-1080insTGACTACT) c.410-1081_410-1080insTGACTACT (n.410-1081_410-1080insTGACTACT) c.413-1081_413-1080insTGACTACT (n.413-1081_413-1080insTGACTACT) c.5-28162_5-28161insTGACTACT (n.5-28162_5-28161insTGACTACT) c.-43-17592_-43-17591insTGACTACT (n.-43-17592_-43-17591insTGACTACT) c.-99+33158_-99+33159insTGACTACT (n.-99+33158_-99+33159insTGACTACT) n.3554_3555insTGACTACT n.3595_3596insTGACTACT | |
| 17 | g.43092113T>A | CA10595145 | BRCA1 | n.3482A>T c.3418A>T (p.Ser1140Cys) c.3292A>T (p.Ser1098Cys) c.3415A>T (p.Ser1139Cys) c.3340A>T (p.Ser1114Cys) c.785-1081A>T (n.785-1081A>T) c.647-1081A>T (n.647-1081A>T) c.2530A>T (p.Ser844Cys) c.3295A>T (p.Ser1099Cys) c.3277A>T (p.Ser1093Cys) c.665-1081A>T (n.665-1081A>T) c.707-1081A>T (n.707-1081A>T) c.671-1081A>T (n.671-1081A>T) c.*3201A>T (n.*3201A>T) c.788-1081A>T (n.788-1081A>T) c.410-1081A>T (n.410-1081A>T) c.413-1081A>T (n.413-1081A>T) c.5-28162A>T (n.5-28162A>T) c.-43-17592A>T (n.-43-17592A>T) c.-99+33158A>T (n.-99+33158A>T) n.3554A>T n.3595A>T | dbSNP |
| 17 | g.43092113T>C | CA002212 | BRCA1 | n.3482A>G c.3418A>G (p.Ser1140Gly) c.3292A>G (p.Ser1098Gly) c.3415A>G (p.Ser1139Gly) c.3340A>G (p.Ser1114Gly) c.785-1081A>G (n.785-1081A>G) c.647-1081A>G (n.647-1081A>G) c.2530A>G (p.Ser844Gly) c.3295A>G (p.Ser1099Gly) c.3277A>G (p.Ser1093Gly) c.665-1081A>G (n.665-1081A>G) c.707-1081A>G (n.707-1081A>G) c.671-1081A>G (n.671-1081A>G) c.*3201A>G (n.*3201A>G) c.788-1081A>G (n.788-1081A>G) c.410-1081A>G (n.410-1081A>G) c.413-1081A>G (n.413-1081A>G) c.5-28162A>G (n.5-28162A>G) c.-43-17592A>G (n.-43-17592A>G) c.-99+33158A>G (n.-99+33158A>G) n.3554A>G n.3595A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.43092113T>G | CA10595146 | BRCA1 | n.3482A>C c.3418A>C (p.Ser1140Arg) c.3292A>C (p.Ser1098Arg) c.3415A>C (p.Ser1139Arg) c.3340A>C (p.Ser1114Arg) c.785-1081A>C (n.785-1081A>C) c.647-1081A>C (n.647-1081A>C) c.2530A>C (p.Ser844Arg) c.3295A>C (p.Ser1099Arg) c.3277A>C (p.Ser1093Arg) c.665-1081A>C (n.665-1081A>C) c.707-1081A>C (n.707-1081A>C) c.671-1081A>C (n.671-1081A>C) c.*3201A>C (n.*3201A>C) c.788-1081A>C (n.788-1081A>C) c.410-1081A>C (n.410-1081A>C) c.413-1081A>C (n.413-1081A>C) c.5-28162A>C (n.5-28162A>C) c.-43-17592A>C (n.-43-17592A>C) c.-99+33158A>C (n.-99+33158A>C) n.3554A>C n.3595A>C | ClinVar dbSNP |
| 17 | g.43092113T= | CA2260782622 | BRCA1 | n.3482A= c.3418A= (p.Ser1140=) c.3292A= (p.Ser1098=) c.3415A= (p.Ser1139=) c.3340A= (p.Ser1114=) c.785-1081A= (n.785-1081A=) c.647-1081A= (n.647-1081A=) c.2530A= (p.Ser844=) c.3295A= (p.Ser1099=) c.3277A= (p.Ser1093=) c.665-1081A= (n.665-1081A=) c.707-1081A= (n.707-1081A=) c.671-1081A= (n.671-1081A=) c.*3201A= (n.*3201A=) c.788-1081A= (n.788-1081A=) c.410-1081A= (n.410-1081A=) c.413-1081A= (n.413-1081A=) c.5-28162A= (n.5-28162A=) c.-43-17592A= (n.-43-17592A=) c.-99+33158A= (n.-99+33158A=) n.3554A= n.3595A= | |
| 17 | g.43092113_43092114delinsTA | CA2260782623 | BRCA1 | n.3481_3482delinsTA c.3417_3418delinsTA (p.Ser1139=) c.3291_3292delinsTA (p.Ser1097=) c.3414_3415delinsTA (p.Ser1138=) c.3339_3340delinsTA (p.Ser1113=) c.785-1082_785-1081delinsTA (n.785-1082_785-1081delinsTA) c.647-1082_647-1081delinsTA (n.647-1082_647-1081delinsTA) c.2529_2530delinsTA (p.Ser843=) c.3294_3295delinsTA (p.Ser1098=) c.3276_3277delinsTA (p.Ser1092=) c.665-1082_665-1081delinsTA (n.665-1082_665-1081delinsTA) c.707-1082_707-1081delinsTA (n.707-1082_707-1081delinsTA) c.671-1082_671-1081delinsTA (n.671-1082_671-1081delinsTA) c.*3200_*3201delinsTA (n.*3200_*3201delinsTA) c.788-1082_788-1081delinsTA (n.788-1082_788-1081delinsTA) c.410-1082_410-1081delinsTA (n.410-1082_410-1081delinsTA) c.413-1082_413-1081delinsTA (n.413-1082_413-1081delinsTA) c.5-28163_5-28162delinsTA (n.5-28163_5-28162delinsTA) c.-43-17593_-43-17592delinsTA (n.-43-17593_-43-17592delinsTA) c.-99+33157_-99+33158delinsTA (n.-99+33157_-99+33158delinsTA) n.3553_3554delinsTA n.3594_3595delinsTA | |
| 17 | g.43092114del | CA002210 | BRCA1 | n.3481del c.3417del (p.Ser1139ArgfsTer16) c.3291del (p.Ser1097ArgfsTer16) c.3414del (p.Ser1138ArgfsTer16) c.3339del (p.Ser1113ArgfsTer16) c.785-1082del (n.785-1082del) c.647-1082del (n.647-1082del) c.2529del (p.Ser843ArgfsTer16) c.3294del (p.Ser1098ArgfsTer16) c.3276del (p.Ser1092ArgfsTer16) c.665-1082del (n.665-1082del) c.707-1082del (n.707-1082del) c.671-1082del (n.671-1082del) c.*3200del (n.*3200del) c.788-1082del (n.788-1082del) c.410-1082del (n.410-1082del) c.413-1082del (n.413-1082del) c.5-28163del (n.5-28163del) c.-43-17593del (n.-43-17593del) c.-99+33157del (n.-99+33157del) n.3553del n.3594del | ClinVar dbSNP |
| 17 | g.43092114A= | CA2260782625 | BRCA1 | n.3481T= c.3417T= (p.Ser1139=) c.3291T= (p.Ser1097=) c.3414T= (p.Ser1138=) c.3339T= (p.Ser1113=) c.785-1082T= (n.785-1082T=) c.647-1082T= (n.647-1082T=) c.2529T= (p.Ser843=) c.3294T= (p.Ser1098=) c.3276T= (p.Ser1092=) c.665-1082T= (n.665-1082T=) c.707-1082T= (n.707-1082T=) c.671-1082T= (n.671-1082T=) c.*3200T= (n.*3200T=) c.788-1082T= (n.788-1082T=) c.410-1082T= (n.410-1082T=) c.413-1082T= (n.413-1082T=) c.5-28163T= (n.5-28163T=) c.-43-17593T= (n.-43-17593T=) c.-99+33157T= (n.-99+33157T=) n.3553T= n.3594T= | |
| 17 | g.43092114A>C | CA10595147 | BRCA1 | n.3481T>G c.3417T>G (p.Ser1139Arg) c.3291T>G (p.Ser1097Arg) c.3414T>G (p.Ser1138Arg) c.3339T>G (p.Ser1113Arg) c.785-1082T>G (n.785-1082T>G) c.647-1082T>G (n.647-1082T>G) c.2529T>G (p.Ser843Arg) c.3294T>G (p.Ser1098Arg) c.3276T>G (p.Ser1092Arg) c.665-1082T>G (n.665-1082T>G) c.707-1082T>G (n.707-1082T>G) c.671-1082T>G (n.671-1082T>G) c.*3200T>G (n.*3200T>G) c.788-1082T>G (n.788-1082T>G) c.410-1082T>G (n.410-1082T>G) c.413-1082T>G (n.413-1082T>G) c.5-28163T>G (n.5-28163T>G) c.-43-17593T>G (n.-43-17593T>G) c.-99+33157T>G (n.-99+33157T>G) n.3553T>G n.3594T>G | ClinVar dbSNP |
| 17 | g.43092114A>G | CA500232536 | BRCA1 | n.3481T>C c.3417T>C (p.Ser1139=) c.3291T>C (p.Ser1097=) c.3414T>C (p.Ser1138=) c.3339T>C (p.Ser1113=) c.785-1082T>C (n.785-1082T>C) c.647-1082T>C (n.647-1082T>C) c.2529T>C (p.Ser843=) c.3294T>C (p.Ser1098=) c.3276T>C (p.Ser1092=) c.665-1082T>C (n.665-1082T>C) c.707-1082T>C (n.707-1082T>C) c.671-1082T>C (n.671-1082T>C) c.*3200T>C (n.*3200T>C) c.788-1082T>C (n.788-1082T>C) c.410-1082T>C (n.410-1082T>C) c.413-1082T>C (n.413-1082T>C) c.5-28163T>C (n.5-28163T>C) c.-43-17593T>C (n.-43-17593T>C) c.-99+33157T>C (n.-99+33157T>C) n.3553T>C n.3594T>C | ClinVar dbSNP |
| 17 | g.43092114A>T | CA10595148 | BRCA1 | n.3481T>A c.3417T>A (p.Ser1139Arg) c.3291T>A (p.Ser1097Arg) c.3414T>A (p.Ser1138Arg) c.3339T>A (p.Ser1113Arg) c.785-1082T>A (n.785-1082T>A) c.647-1082T>A (n.647-1082T>A) c.2529T>A (p.Ser843Arg) c.3294T>A (p.Ser1098Arg) c.3276T>A (p.Ser1092Arg) c.665-1082T>A (n.665-1082T>A) c.707-1082T>A (n.707-1082T>A) c.671-1082T>A (n.671-1082T>A) c.*3200T>A (n.*3200T>A) c.788-1082T>A (n.788-1082T>A) c.410-1082T>A (n.410-1082T>A) c.413-1082T>A (n.413-1082T>A) c.5-28163T>A (n.5-28163T>A) c.-43-17593T>A (n.-43-17593T>A) c.-99+33157T>A (n.-99+33157T>A) n.3553T>A n.3594T>A | dbSNP |
| 17 | g.43092114_43092115delinsAC | CA2260782624 | BRCA1 | n.3480_3481delinsGT c.3416_3417delinsGT (p.Ser1139=) c.3290_3291delinsGT (p.Ser1097=) c.3413_3414delinsGT (p.Ser1138=) c.3338_3339delinsGT (p.Ser1113=) c.785-1083_785-1082delinsGT (n.785-1083_785-1082delinsGT) c.647-1083_647-1082delinsGT (n.647-1083_647-1082delinsGT) c.2528_2529delinsGT (p.Ser843=) c.3293_3294delinsGT (p.Ser1098=) c.3275_3276delinsGT (p.Ser1092=) c.665-1083_665-1082delinsGT (n.665-1083_665-1082delinsGT) c.707-1083_707-1082delinsGT (n.707-1083_707-1082delinsGT) c.671-1083_671-1082delinsGT (n.671-1083_671-1082delinsGT) c.*3199_*3200delinsGT (n.*3199_*3200delinsGT) c.788-1083_788-1082delinsGT (n.788-1083_788-1082delinsGT) c.410-1083_410-1082delinsGT (n.410-1083_410-1082delinsGT) c.413-1083_413-1082delinsGT (n.413-1083_413-1082delinsGT) c.5-28164_5-28163delinsGT (n.5-28164_5-28163delinsGT) c.-43-17594_-43-17593delinsGT (n.-43-17594_-43-17593delinsGT) c.-99+33156_-99+33157delinsGT (n.-99+33156_-99+33157delinsGT) n.3552_3553delinsGT n.3593_3594delinsGT | |
| 17 | g.43092115del | CA002208 | BRCA1 | n.3480del c.3416del (p.Ser1139IlefsTer16) c.3290del (p.Ser1097IlefsTer16) c.3413del (p.Ser1138IlefsTer16) c.3338del (p.Ser1113IlefsTer16) c.785-1083del (n.785-1083del) c.647-1083del (n.647-1083del) c.2528del (p.Ser843IlefsTer16) c.3293del (p.Ser1098IlefsTer16) c.3275del (p.Ser1092IlefsTer16) c.665-1083del (n.665-1083del) c.707-1083del (n.707-1083del) c.671-1083del (n.671-1083del) c.*3199del (n.*3199del) c.788-1083del (n.788-1083del) c.410-1083del (n.410-1083del) c.413-1083del (n.413-1083del) c.5-28164del (n.5-28164del) c.-43-17594del (n.-43-17594del) c.-99+33156del (n.-99+33156del) n.3552del n.3593del | ClinVar dbSNP |
| 17 | g.43092115C>A | CA002209 | BRCA1 | n.3480G>T c.3416G>T (p.Ser1139Ile) c.3290G>T (p.Ser1097Ile) c.3413G>T (p.Ser1138Ile) c.3338G>T (p.Ser1113Ile) c.785-1083G>T (n.785-1083G>T) c.647-1083G>T (n.647-1083G>T) c.2528G>T (p.Ser843Ile) c.3293G>T (p.Ser1098Ile) c.3275G>T (p.Ser1092Ile) c.665-1083G>T (n.665-1083G>T) c.707-1083G>T (n.707-1083G>T) c.671-1083G>T (n.671-1083G>T) c.*3199G>T (n.*3199G>T) c.788-1083G>T (n.788-1083G>T) c.410-1083G>T (n.410-1083G>T) c.413-1083G>T (n.413-1083G>T) c.5-28164G>T (n.5-28164G>T) c.-43-17594G>T (n.-43-17594G>T) c.-99+33156G>T (n.-99+33156G>T) n.3552G>T n.3593G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.43092115C= | CA2260782626 | BRCA1 | n.3480G= c.3416G= (p.Ser1139=) c.3290G= (p.Ser1097=) c.3413G= (p.Ser1138=) c.3338G= (p.Ser1113=) c.785-1083G= (n.785-1083G=) c.647-1083G= (n.647-1083G=) c.2528G= (p.Ser843=) c.3293G= (p.Ser1098=) c.3275G= (p.Ser1092=) c.665-1083G= (n.665-1083G=) c.707-1083G= (n.707-1083G=) c.671-1083G= (n.671-1083G=) c.*3199G= (n.*3199G=) c.788-1083G= (n.788-1083G=) c.410-1083G= (n.410-1083G=) c.413-1083G= (n.413-1083G=) c.5-28164G= (n.5-28164G=) c.-43-17594G= (n.-43-17594G=) c.-99+33156G= (n.-99+33156G=) n.3552G= n.3593G= |