Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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.43093751_43094887del | CA10602596 | BRCA1 | n.735-26_1845del c.671-26_1781del c.545-26_1655del c.668-26_1778del c.593-26_1703del c.668-26_784+994del c.530-26_646+994del c.-218-26_893del c.548-26_1658del c.530-26_1640del c.548-26_664+994del c.590-26_706+994del c.670+960_670+2096del (n.670+960_670+2096del) c.22-26_1132del c.*454-26_*1564del c.671-26_787+994del c.293-26_409+994del c.296-26_412+994del c.4+30296_5-29799del (n.4+30296_5-29799del) c.-43-20365_-43-19229del (n.-43-20365_-43-19229del) c.-99+30385_-99+31521del (n.-99+30385_-99+31521del) n.807-26_1917del n.848-26_1958del | ClinVar |
17 | g.43093881_43094860dup | CA2580618106 | BRCA1 | n.735_1714dup c.671_1650dup (p.Ser551LeufsTer10) c.545_1524dup (p.Ser509LeufsTer10) c.668_1647dup (p.Ser550LeufsTer10) c.593_1572dup (p.Ser525LeufsTer10) c.668_784+863dup c.530_646+863dup c.-218_762dup (p.Ser255LeufsTer10) c.548_1527dup (p.Ser510LeufsTer10) c.530_1509dup (p.Ser504LeufsTer10) c.548_664+863dup c.590_706+863dup c.670+986_670+1965dup (n.670+986_670+1965dup) c.22_1001dup c.*454_*1433dup (n.*454_*1433dup) c.671_787+863dup c.293_409+863dup c.296_412+863dup c.4+30322_5-29930dup (n.4+30322_5-29930dup) c.-43-20339_-43-19360dup (n.-43-20339_-43-19360dup) c.-99+30411_-99+31390dup (n.-99+30411_-99+31390dup) n.807_1786dup n.848_1827dup | |
17 | g.43094311_43094354delinsGCATTTGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAA | CA2260784808 | BRCA1 | n.1241_1284delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC c.1177_1220delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (p.Leu393=) c.1051_1094delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (p.Leu351=) c.1174_1217delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (p.Leu392=) c.1099_1142delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (p.Leu367=) c.784+390_784+433delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (n.784+390_784+433delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC) c.646+390_646+433delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (n.646+390_646+433delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC) c.289_332delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (p.Leu97=) c.1054_1097delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (p.Leu352=) c.1036_1079delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (p.Leu346=) c.664+390_664+433delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (n.664+390_664+433delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC) c.706+390_706+433delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (n.706+390_706+433delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC) c.*1185_*1228delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (n.*1185_*1228delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC) c.670+1492_670+1535delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (n.670+1492_670+1535delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC) c.528_571delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC c.*960_*1003delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (n.*960_*1003delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC) c.787+390_787+433delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (n.787+390_787+433delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC) c.774_817delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC c.409+390_409+433delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (n.409+390_409+433delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC) c.412+390_412+433delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (n.412+390_412+433delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC) c.*1113_*1156delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (n.*1113_*1156delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC) c.5-30403_5-30360delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (n.5-30403_5-30360delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC) c.-43-19833_-43-19790delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (n.-43-19833_-43-19790delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC) c.-99+30917_-99+30960delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (n.-99+30917_-99+30960delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC) n.1313_1356delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC n.1354_1397delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC | |
17 | g.43094312_43094356delinsCATTTGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAACA | CA2260784810 | BRCA1 | n.1239_1283delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG c.1175_1219delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (p.Leu392=) c.1049_1093delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (p.Leu350=) c.1172_1216delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (p.Leu391=) c.1097_1141delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (p.Leu366=) c.784+388_784+432delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (n.784+388_784+432delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG) c.646+388_646+432delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (n.646+388_646+432delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG) c.287_331delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (p.Leu96=) c.1052_1096delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (p.Leu351=) c.1034_1078delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (p.Leu345=) c.664+388_664+432delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (n.664+388_664+432delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG) c.706+388_706+432delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (n.706+388_706+432delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG) c.*1183_*1227delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (n.*1183_*1227delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG) c.670+1490_670+1534delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (n.670+1490_670+1534delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG) c.526_570delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG c.*958_*1002delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (n.*958_*1002delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG) c.787+388_787+432delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (n.787+388_787+432delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG) c.772_816delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG c.409+388_409+432delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (n.409+388_409+432delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG) c.412+388_412+432delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (n.412+388_412+432delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG) c.*1111_*1155delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (n.*1111_*1155delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG) c.5-30405_5-30361delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (n.5-30405_5-30361delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG) c.-43-19835_-43-19791delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (n.-43-19835_-43-19791delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG) c.-99+30915_-99+30959delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (n.-99+30915_-99+30959delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG) n.1311_1355delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG n.1352_1396delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG | |
17 | g.43094314_43094356del | CA000780 | BRCA1 | n.1241_1283del c.1177_1219del (p.Leu393ProfsTer3) c.1051_1093del (p.Leu351ProfsTer3) c.1174_1216del (p.Leu392ProfsTer3) c.1099_1141del (p.Leu367ProfsTer3) c.784+390_784+432del (n.784+390_784+432del) c.646+390_646+432del (n.646+390_646+432del) c.289_331del (p.Leu97ProfsTer3) c.1054_1096del (p.Leu352ProfsTer3) c.1036_1078del (p.Leu346ProfsTer3) c.664+390_664+432del (n.664+390_664+432del) c.706+390_706+432del (n.706+390_706+432del) c.*1185_*1227del (n.*1185_*1227del) c.670+1492_670+1534del (n.670+1492_670+1534del) c.528_570del c.*960_*1002del (n.*960_*1002del) c.787+390_787+432del (n.787+390_787+432del) c.774_816del c.409+390_409+432del (n.409+390_409+432del) c.412+390_412+432del (n.412+390_412+432del) c.*1113_*1155del (n.*1113_*1155del) c.5-30403_5-30361del (n.5-30403_5-30361del) c.-43-19833_-43-19791del (n.-43-19833_-43-19791del) c.-99+30917_-99+30959del (n.-99+30917_-99+30959del) n.1313_1355del n.1354_1396del | ClinVar dbSNP |
17 | g.43094313_43094356del | CA000781 | BRCA1 | n.1239_1282del c.1175_1218del (p.Leu392ArgfsTer5) c.1049_1092del (p.Leu350ArgfsTer5) c.1172_1215del (p.Leu391ArgfsTer5) c.1097_1140del (p.Leu366ArgfsTer5) c.784+388_784+431del (n.784+388_784+431del) c.646+388_646+431del (n.646+388_646+431del) c.287_330del (p.Leu96ArgfsTer5) c.1052_1095del (p.Leu351ArgfsTer5) c.1034_1077del (p.Leu345ArgfsTer5) c.664+388_664+431del (n.664+388_664+431del) c.706+388_706+431del (n.706+388_706+431del) c.*1183_*1226del (n.*1183_*1226del) c.670+1490_670+1533del (n.670+1490_670+1533del) c.526_569del c.*958_*1001del (n.*958_*1001del) c.787+388_787+431del (n.787+388_787+431del) c.772_815del c.409+388_409+431del (n.409+388_409+431del) c.412+388_412+431del (n.412+388_412+431del) c.*1111_*1154del (n.*1111_*1154del) c.5-30405_5-30362del (n.5-30405_5-30362del) c.-43-19835_-43-19792del (n.-43-19835_-43-19792del) c.-99+30915_-99+30958del (n.-99+30915_-99+30958del) n.1311_1354del n.1352_1395del | ClinVar dbSNP |
17 | g.43094314_43094356delinsTTTGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAACA | CA2260784813 | BRCA1 | n.1239_1281delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA c.1175_1217delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (p.Leu392=) c.1049_1091delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (p.Leu350=) c.1172_1214delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (p.Leu391=) c.1097_1139delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (p.Leu366=) c.784+388_784+430delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (n.784+388_784+430delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA) c.646+388_646+430delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (n.646+388_646+430delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA) c.287_329delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (p.Leu96=) c.1052_1094delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (p.Leu351=) c.1034_1076delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (p.Leu345=) c.664+388_664+430delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (n.664+388_664+430delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA) c.706+388_706+430delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (n.706+388_706+430delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA) c.*1183_*1225delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (n.*1183_*1225delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA) c.670+1490_670+1532delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (n.670+1490_670+1532delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA) c.526_568delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA c.*958_*1000delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (n.*958_*1000delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA) c.787+388_787+430delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (n.787+388_787+430delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA) c.772_814delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA c.409+388_409+430delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (n.409+388_409+430delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA) c.412+388_412+430delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (n.412+388_412+430delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA) c.*1111_*1153delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (n.*1111_*1153delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA) c.5-30405_5-30363delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (n.5-30405_5-30363delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA) c.-43-19835_-43-19793delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (n.-43-19835_-43-19793delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA) c.-99+30915_-99+30957delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (n.-99+30915_-99+30957delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA) n.1311_1353delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA n.1352_1394delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA | |
17 | g.43094315_43094355delinsTTGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAAC | CA2260784815 | BRCA1 | n.1240_1280delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA c.1176_1216delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (p.Leu392=) c.1050_1090delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (p.Leu350=) c.1173_1213delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (p.Leu391=) c.1098_1138delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (p.Leu366=) c.784+389_784+429delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.784+389_784+429delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA) c.646+389_646+429delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.646+389_646+429delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA) c.288_328delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (p.Leu96=) c.1053_1093delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (p.Leu351=) c.1035_1075delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (p.Leu345=) c.664+389_664+429delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.664+389_664+429delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA) c.706+389_706+429delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.706+389_706+429delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA) c.*1184_*1224delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.*1184_*1224delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA) c.670+1491_670+1531delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.670+1491_670+1531delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA) c.527_567delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA c.*959_*999delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.*959_*999delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA) c.787+389_787+429delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.787+389_787+429delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA) c.773_813delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA c.409+389_409+429delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.409+389_409+429delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA) c.412+389_412+429delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.412+389_412+429delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA) c.*1112_*1152delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.*1112_*1152delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA) c.5-30404_5-30364delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.5-30404_5-30364delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA) c.-43-19834_-43-19794delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.-43-19834_-43-19794delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA) c.-99+30916_-99+30956delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.-99+30916_-99+30956delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA) n.1312_1352delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA n.1353_1393delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA | |
17 | g.43094315_43094356del | CA000779 | BRCA1 | n.1239_1280del c.1175_1216del (p.Leu392_Asn406delinsHis) c.1049_1090del (p.Leu350_Asn364delinsHis) c.1172_1213del (p.Leu391_Asn405delinsHis) c.1097_1138del (p.Leu366_Asn380delinsHis) c.784+388_784+429del (n.784+388_784+429del) c.646+388_646+429del (n.646+388_646+429del) c.287_328del (p.Leu96_Asn110delinsHis) c.1052_1093del (p.Leu351_Asn365delinsHis) c.1034_1075del (p.Leu345_Asn359delinsHis) c.664+388_664+429del (n.664+388_664+429del) c.706+388_706+429del (n.706+388_706+429del) c.*1183_*1224del (n.*1183_*1224del) c.670+1490_670+1531del (n.670+1490_670+1531del) c.526_567del c.*958_*999del (n.*958_*999del) c.787+388_787+429del (n.787+388_787+429del) c.772_813del c.409+388_409+429del (n.409+388_409+429del) c.412+388_412+429del (n.412+388_412+429del) c.*1111_*1152del (n.*1111_*1152del) c.5-30405_5-30364del (n.5-30405_5-30364del) c.-43-19835_-43-19794del (n.-43-19835_-43-19794del) c.-99+30915_-99+30956del (n.-99+30915_-99+30956del) n.1311_1352del n.1352_1393del | ClinVar dbSNP |
17 | g.43094315_43094356delinsTTGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAACA | CA2260784814 | BRCA1 | n.1239_1280delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA c.1175_1216delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (p.Leu392=) c.1049_1090delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (p.Leu350=) c.1172_1213delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (p.Leu391=) c.1097_1138delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (p.Leu366=) c.784+388_784+429delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.784+388_784+429delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA) c.646+388_646+429delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.646+388_646+429delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA) c.287_328delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (p.Leu96=) c.1052_1093delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (p.Leu351=) c.1034_1075delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (p.Leu345=) c.664+388_664+429delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.664+388_664+429delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA) c.706+388_706+429delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.706+388_706+429delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA) c.*1183_*1224delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.*1183_*1224delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA) c.670+1490_670+1531delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.670+1490_670+1531delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA) c.526_567delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA c.*958_*999delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.*958_*999delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA) c.787+388_787+429delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.787+388_787+429delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA) c.772_813delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA c.409+388_409+429delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.409+388_409+429delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA) c.412+388_412+429delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.412+388_412+429delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA) c.*1111_*1152delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.*1111_*1152delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA) c.5-30405_5-30364delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.5-30405_5-30364delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA) c.-43-19835_-43-19794delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.-43-19835_-43-19794delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA) c.-99+30915_-99+30956delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.-99+30915_-99+30956delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA) n.1311_1352delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA n.1352_1393delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA | |
17 | g.43094316_43094355del | CA658824533 | BRCA1 | n.1240_1279del c.1176_1215del (p.Leu393MetfsTer4) c.1050_1089del (p.Leu351MetfsTer4) c.1173_1212del (p.Leu392MetfsTer4) c.1098_1137del (p.Leu367MetfsTer4) c.784+389_784+428del (n.784+389_784+428del) c.646+389_646+428del (n.646+389_646+428del) c.288_327del (p.Leu97MetfsTer4) c.1053_1092del (p.Leu352MetfsTer4) c.1035_1074del (p.Leu346MetfsTer4) c.664+389_664+428del (n.664+389_664+428del) c.706+389_706+428del (n.706+389_706+428del) c.*1184_*1223del (n.*1184_*1223del) c.670+1491_670+1530del (n.670+1491_670+1530del) c.527_566del c.*959_*998del (n.*959_*998del) c.787+389_787+428del (n.787+389_787+428del) c.773_812del c.409+389_409+428del (n.409+389_409+428del) c.412+389_412+428del (n.412+389_412+428del) c.*1112_*1151del (n.*1112_*1151del) c.5-30404_5-30365del (n.5-30404_5-30365del) c.-43-19834_-43-19795del (n.-43-19834_-43-19795del) c.-99+30916_-99+30955del (n.-99+30916_-99+30955del) n.1312_1351del n.1353_1392del | ClinVar dbSNP |
17 | g.43094316_43094356del | CA000778 | BRCA1 | n.1239_1279del c.1175_1215del (p.Leu392GlnfsTer6) c.1049_1089del (p.Leu350GlnfsTer6) c.1172_1212del (p.Leu391GlnfsTer6) c.1097_1137del (p.Leu366GlnfsTer6) c.784+388_784+428del (n.784+388_784+428del) c.646+388_646+428del (n.646+388_646+428del) c.287_327del (p.Leu96GlnfsTer6) c.1052_1092del (p.Leu351GlnfsTer6) c.1034_1074del (p.Leu345GlnfsTer6) c.664+388_664+428del (n.664+388_664+428del) c.706+388_706+428del (n.706+388_706+428del) c.*1183_*1223del (n.*1183_*1223del) c.670+1490_670+1530del (n.670+1490_670+1530del) c.526_566del c.*958_*998del (n.*958_*998del) c.787+388_787+428del (n.787+388_787+428del) c.772_812del c.409+388_409+428del (n.409+388_409+428del) c.412+388_412+428del (n.412+388_412+428del) c.*1111_*1151del (n.*1111_*1151del) c.5-30405_5-30365del (n.5-30405_5-30365del) c.-43-19835_-43-19795del (n.-43-19835_-43-19795del) c.-99+30915_-99+30955del (n.-99+30915_-99+30955del) n.1311_1351del n.1352_1392del | ClinVar dbSNP |
17 | g.43094316_43094356delinsTGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAACA | CA2260784817 | BRCA1 | n.1239_1279delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA c.1175_1215delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (p.Leu392=) c.1049_1089delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (p.Leu350=) c.1172_1212delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (p.Leu391=) c.1097_1137delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (p.Leu366=) c.784+388_784+428delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (n.784+388_784+428delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA) c.646+388_646+428delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (n.646+388_646+428delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA) c.287_327delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (p.Leu96=) c.1052_1092delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (p.Leu351=) c.1034_1074delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (p.Leu345=) c.664+388_664+428delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (n.664+388_664+428delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA) c.706+388_706+428delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (n.706+388_706+428delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA) c.*1183_*1223delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (n.*1183_*1223delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA) c.670+1490_670+1530delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (n.670+1490_670+1530delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA) c.526_566delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA c.*958_*998delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (n.*958_*998delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA) c.787+388_787+428delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (n.787+388_787+428delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA) c.772_812delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA c.409+388_409+428delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (n.409+388_409+428delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA) c.412+388_412+428delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (n.412+388_412+428delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA) c.*1111_*1151delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (n.*1111_*1151delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA) c.5-30405_5-30365delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (n.5-30405_5-30365delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA) c.-43-19835_-43-19795delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (n.-43-19835_-43-19795delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA) c.-99+30915_-99+30955delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (n.-99+30915_-99+30955delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA) n.1311_1351delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA n.1352_1392delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA | |
17 | g.43094319_43094324del | CA2638062640 | BRCA1 | n.1273_1278del c.1209_1214del (p.Glu404_Ser405del) c.1083_1088del (p.Glu362_Ser363del) c.1206_1211del (p.Glu403_Ser404del) c.1131_1136del (p.Glu378_Ser379del) c.784+422_784+427del (n.784+422_784+427del) c.646+422_646+427del (n.646+422_646+427del) c.321_326del (p.Glu108_Ser109del) c.1086_1091del (p.Glu363_Ser364del) c.1068_1073del (p.Glu357_Ser358del) c.664+422_664+427del (n.664+422_664+427del) c.706+422_706+427del (n.706+422_706+427del) c.*1217_*1222del (n.*1217_*1222del) c.670+1524_670+1529del (n.670+1524_670+1529del) c.560_565del c.*992_*997del (n.*992_*997del) c.787+422_787+427del (n.787+422_787+427del) c.806_811del c.409+422_409+427del (n.409+422_409+427del) c.412+422_412+427del (n.412+422_412+427del) c.*1145_*1150del (n.*1145_*1150del) c.5-30371_5-30366del (n.5-30371_5-30366del) c.-43-19801_-43-19796del (n.-43-19801_-43-19796del) c.-99+30949_-99+30954del (n.-99+30949_-99+30954del) n.1345_1350del n.1386_1391del | gnomAD v4 |
17 | g.43094318_43094357del | CA000776 | BRCA1 | n.1239_1278del c.1175_1214del (p.Leu392GlnfsTer5) c.1049_1088del (p.Leu350GlnfsTer5) c.1172_1211del (p.Leu391GlnfsTer5) c.1097_1136del (p.Leu366GlnfsTer5) c.784+388_784+427del (n.784+388_784+427del) c.646+388_646+427del (n.646+388_646+427del) c.287_326del (p.Leu96GlnfsTer5) c.1052_1091del (p.Leu351GlnfsTer5) c.1034_1073del (p.Leu345GlnfsTer5) c.664+388_664+427del (n.664+388_664+427del) c.706+388_706+427del (n.706+388_706+427del) c.*1183_*1222del (n.*1183_*1222del) c.670+1490_670+1529del (n.670+1490_670+1529del) c.526_565del c.*958_*997del (n.*958_*997del) c.787+388_787+427del (n.787+388_787+427del) c.772_811del c.409+388_409+427del (n.409+388_409+427del) c.412+388_412+427del (n.412+388_412+427del) c.*1111_*1150del (n.*1111_*1150del) c.5-30405_5-30366del (n.5-30405_5-30366del) c.-43-19835_-43-19796del (n.-43-19835_-43-19796del) c.-99+30915_-99+30954del (n.-99+30915_-99+30954del) n.1311_1350del n.1352_1391del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43094323_43094324dup | CA658761287 | BRCA1 | n.1272_1273dup c.1208_1209dup (p.Glu404LeufsTer7) c.1082_1083dup (p.Glu362LeufsTer7) c.1205_1206dup (p.Glu403LeufsTer7) c.1130_1131dup (p.Glu378LeufsTer7) c.784+421_784+422dup (n.784+421_784+422dup) c.646+421_646+422dup (n.646+421_646+422dup) c.320_321dup (p.Glu108LeufsTer7) c.1085_1086dup (p.Glu363LeufsTer7) c.1067_1068dup (p.Glu357LeufsTer7) c.664+421_664+422dup (n.664+421_664+422dup) c.706+421_706+422dup (n.706+421_706+422dup) c.*1216_*1217dup (n.*1216_*1217dup) c.670+1523_670+1524dup (n.670+1523_670+1524dup) c.559_560dup c.*991_*992dup (n.*991_*992dup) c.787+421_787+422dup (n.787+421_787+422dup) c.805_806dup c.409+421_409+422dup (n.409+421_409+422dup) c.412+421_412+422dup (n.412+421_412+422dup) c.*1144_*1145dup (n.*1144_*1145dup) c.5-30372_5-30371dup (n.5-30372_5-30371dup) c.-43-19802_-43-19801dup (n.-43-19802_-43-19801dup) c.-99+30948_-99+30949dup (n.-99+30948_-99+30949dup) n.1344_1345dup n.1385_1386dup | |
17 | g.43094324A= | CA2260784826 | BRCA1 | n.1271T= c.1207T= (p.Ser403=) c.1081T= (p.Ser361=) c.1204T= (p.Ser402=) c.1129T= (p.Ser377=) c.784+420T= (n.784+420T=) c.646+420T= (n.646+420T=) c.319T= (p.Ser107=) c.1084T= (p.Ser362=) c.1066T= (p.Ser356=) c.664+420T= (n.664+420T=) c.706+420T= (n.706+420T=) c.*1215T= (n.*1215T=) c.670+1522T= (n.670+1522T=) c.558T= c.*990T= (n.*990T=) c.787+420T= (n.787+420T=) c.804T= c.409+420T= (n.409+420T=) c.412+420T= (n.412+420T=) c.*1143T= (n.*1143T=) c.5-30373T= (n.5-30373T=) c.-43-19803T= (n.-43-19803T=) c.-99+30947T= (n.-99+30947T=) n.1343T= n.1384T= | |
17 | g.43094324A>C | CA10599635 | BRCA1 | n.1271T>G c.1207T>G (p.Ser403Ala) c.1081T>G (p.Ser361Ala) c.1204T>G (p.Ser402Ala) c.1129T>G (p.Ser377Ala) c.784+420T>G (n.784+420T>G) c.646+420T>G (n.646+420T>G) c.319T>G (p.Ser107Ala) c.1084T>G (p.Ser362Ala) c.1066T>G (p.Ser356Ala) c.664+420T>G (n.664+420T>G) c.706+420T>G (n.706+420T>G) c.*1215T>G (n.*1215T>G) c.670+1522T>G (n.670+1522T>G) c.558T>G c.*990T>G (n.*990T>G) c.787+420T>G (n.787+420T>G) c.804T>G c.409+420T>G (n.409+420T>G) c.412+420T>G (n.412+420T>G) c.*1143T>G (n.*1143T>G) c.5-30373T>G (n.5-30373T>G) c.-43-19803T>G (n.-43-19803T>G) c.-99+30947T>G (n.-99+30947T>G) n.1343T>G n.1384T>G | ClinVar dbSNP gnomAD v4 |
17 | g.43094324A>G | CA10599636 | BRCA1 | n.1271T>C c.1207T>C (p.Ser403Pro) c.1081T>C (p.Ser361Pro) c.1204T>C (p.Ser402Pro) c.1129T>C (p.Ser377Pro) c.784+420T>C (n.784+420T>C) c.646+420T>C (n.646+420T>C) c.319T>C (p.Ser107Pro) c.1084T>C (p.Ser362Pro) c.1066T>C (p.Ser356Pro) c.664+420T>C (n.664+420T>C) c.706+420T>C (n.706+420T>C) c.*1215T>C (n.*1215T>C) c.670+1522T>C (n.670+1522T>C) c.558T>C c.*990T>C (n.*990T>C) c.787+420T>C (n.787+420T>C) c.804T>C c.409+420T>C (n.409+420T>C) c.412+420T>C (n.412+420T>C) c.*1143T>C (n.*1143T>C) c.5-30373T>C (n.5-30373T>C) c.-43-19803T>C (n.-43-19803T>C) c.-99+30947T>C (n.-99+30947T>C) n.1343T>C n.1384T>C | ClinVar dbSNP gnomAD v4 |
17 | g.43094324A>T | CA10599637 | BRCA1 | n.1271T>A c.1207T>A (p.Ser403Thr) c.1081T>A (p.Ser361Thr) c.1204T>A (p.Ser402Thr) c.1129T>A (p.Ser377Thr) c.784+420T>A (n.784+420T>A) c.646+420T>A (n.646+420T>A) c.319T>A (p.Ser107Thr) c.1084T>A (p.Ser362Thr) c.1066T>A (p.Ser356Thr) c.664+420T>A (n.664+420T>A) c.706+420T>A (n.706+420T>A) c.*1215T>A (n.*1215T>A) c.670+1522T>A (n.670+1522T>A) c.558T>A c.*990T>A (n.*990T>A) c.787+420T>A (n.787+420T>A) c.804T>A c.409+420T>A (n.409+420T>A) c.412+420T>A (n.412+420T>A) c.*1143T>A (n.*1143T>A) c.5-30373T>A (n.5-30373T>A) c.-43-19803T>A (n.-43-19803T>A) c.-99+30947T>A (n.-99+30947T>A) n.1343T>A n.1384T>A | dbSNP |
17 | g.43094324_43094331delinsACTCCCCA | CA2260784827 | BRCA1 | n.1264_1271delinsTGGGGAGT c.1200_1207delinsTGGGGAGT (p.Asp400=) c.1074_1081delinsTGGGGAGT (p.Asp358=) c.1197_1204delinsTGGGGAGT (p.Asp399=) c.1122_1129delinsTGGGGAGT (p.Asp374=) c.784+413_784+420delinsTGGGGAGT (n.784+413_784+420delinsTGGGGAGT) c.646+413_646+420delinsTGGGGAGT (n.646+413_646+420delinsTGGGGAGT) c.312_319delinsTGGGGAGT (p.Asp104=) c.1077_1084delinsTGGGGAGT (p.Asp359=) c.1059_1066delinsTGGGGAGT (p.Asp353=) c.664+413_664+420delinsTGGGGAGT (n.664+413_664+420delinsTGGGGAGT) c.706+413_706+420delinsTGGGGAGT (n.706+413_706+420delinsTGGGGAGT) c.*1208_*1215delinsTGGGGAGT (n.*1208_*1215delinsTGGGGAGT) c.670+1515_670+1522delinsTGGGGAGT (n.670+1515_670+1522delinsTGGGGAGT) c.551_558delinsTGGGGAGT c.*983_*990delinsTGGGGAGT (n.*983_*990delinsTGGGGAGT) c.787+413_787+420delinsTGGGGAGT (n.787+413_787+420delinsTGGGGAGT) c.797_804delinsTGGGGAGT c.409+413_409+420delinsTGGGGAGT (n.409+413_409+420delinsTGGGGAGT) c.412+413_412+420delinsTGGGGAGT (n.412+413_412+420delinsTGGGGAGT) c.*1136_*1143delinsTGGGGAGT (n.*1136_*1143delinsTGGGGAGT) c.5-30380_5-30373delinsTGGGGAGT (n.5-30380_5-30373delinsTGGGGAGT) c.-43-19810_-43-19803delinsTGGGGAGT (n.-43-19810_-43-19803delinsTGGGGAGT) c.-99+30940_-99+30947delinsTGGGGAGT (n.-99+30940_-99+30947delinsTGGGGAGT) n.1336_1343delinsTGGGGAGT n.1377_1384delinsTGGGGAGT | |
17 | g.43094327_43094366del | CA1139532220 | BRCA1 | n.1232_1271del c.1168_1207del (p.Asp390LeufsTer7) c.1042_1081del (p.Asp348LeufsTer7) c.1165_1204del (p.Asp389LeufsTer7) c.1090_1129del (p.Asp364LeufsTer7) c.784+381_784+420del (n.784+381_784+420del) c.646+381_646+420del (n.646+381_646+420del) c.280_319del (p.Asp94LeufsTer7) c.1045_1084del (p.Asp349LeufsTer7) c.1027_1066del (p.Asp343LeufsTer7) c.664+381_664+420del (n.664+381_664+420del) c.706+381_706+420del (n.706+381_706+420del) c.*1176_*1215del (n.*1176_*1215del) c.670+1483_670+1522del (n.670+1483_670+1522del) c.519_558del c.*951_*990del (n.*951_*990del) c.787+381_787+420del (n.787+381_787+420del) c.765_804del c.409+381_409+420del (n.409+381_409+420del) c.412+381_412+420del (n.412+381_412+420del) c.*1104_*1143del (n.*1104_*1143del) c.5-30412_5-30373del (n.5-30412_5-30373del) c.-43-19842_-43-19803del (n.-43-19842_-43-19803del) c.-99+30908_-99+30947del (n.-99+30908_-99+30947del) n.1304_1343del n.1345_1384del | |
17 | g.43094325C>A | CA10599638 | BRCA1 | n.1270G>T c.1206G>T (p.Glu402Asp) c.1080G>T (p.Glu360Asp) c.1203G>T (p.Glu401Asp) c.1128G>T (p.Glu376Asp) c.784+419G>T (n.784+419G>T) c.646+419G>T (n.646+419G>T) c.318G>T (p.Glu106Asp) c.1083G>T (p.Glu361Asp) c.1065G>T (p.Glu355Asp) c.664+419G>T (n.664+419G>T) c.706+419G>T (n.706+419G>T) c.*1214G>T (n.*1214G>T) c.670+1521G>T (n.670+1521G>T) c.557G>T c.*989G>T (n.*989G>T) c.787+419G>T (n.787+419G>T) c.803G>T c.409+419G>T (n.409+419G>T) c.412+419G>T (n.412+419G>T) c.*1142G>T (n.*1142G>T) c.5-30374G>T (n.5-30374G>T) c.-43-19804G>T (n.-43-19804G>T) c.-99+30946G>T (n.-99+30946G>T) n.1342G>T n.1383G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.43094325C= | CA2260784828 | BRCA1 | n.1270G= c.1206G= (p.Glu402=) c.1080G= (p.Glu360=) c.1203G= (p.Glu401=) c.1128G= (p.Glu376=) c.784+419G= (n.784+419G=) c.646+419G= (n.646+419G=) c.318G= (p.Glu106=) c.1083G= (p.Glu361=) c.1065G= (p.Glu355=) c.664+419G= (n.664+419G=) c.706+419G= (n.706+419G=) c.*1214G= (n.*1214G=) c.670+1521G= (n.670+1521G=) c.557G= c.*989G= (n.*989G=) c.787+419G= (n.787+419G=) c.803G= c.409+419G= (n.409+419G=) c.412+419G= (n.412+419G=) c.*1142G= (n.*1142G=) c.5-30374G= (n.5-30374G=) c.-43-19804G= (n.-43-19804G=) c.-99+30946G= (n.-99+30946G=) n.1342G= n.1383G= | |
17 | g.43094325C>G | CA10599639 | BRCA1 | n.1270G>C c.1206G>C (p.Glu402Asp) c.1080G>C (p.Glu360Asp) c.1203G>C (p.Glu401Asp) c.1128G>C (p.Glu376Asp) c.784+419G>C (n.784+419G>C) c.646+419G>C (n.646+419G>C) c.318G>C (p.Glu106Asp) c.1083G>C (p.Glu361Asp) c.1065G>C (p.Glu355Asp) c.664+419G>C (n.664+419G>C) c.706+419G>C (n.706+419G>C) c.*1214G>C (n.*1214G>C) c.670+1521G>C (n.670+1521G>C) c.557G>C c.*989G>C (n.*989G>C) c.787+419G>C (n.787+419G>C) c.803G>C c.409+419G>C (n.409+419G>C) c.412+419G>C (n.412+419G>C) c.*1142G>C (n.*1142G>C) c.5-30374G>C (n.5-30374G>C) c.-43-19804G>C (n.-43-19804G>C) c.-99+30946G>C (n.-99+30946G>C) n.1342G>C n.1383G>C | ClinVar dbSNP |
17 | g.43094325C>T | CA500233570 | BRCA1 | n.1270G>A c.1206G>A (p.Glu402=) c.1080G>A (p.Glu360=) c.1203G>A (p.Glu401=) c.1128G>A (p.Glu376=) c.784+419G>A (n.784+419G>A) c.646+419G>A (n.646+419G>A) c.318G>A (p.Glu106=) c.1083G>A (p.Glu361=) c.1065G>A (p.Glu355=) c.664+419G>A (n.664+419G>A) c.706+419G>A (n.706+419G>A) c.*1214G>A (n.*1214G>A) c.670+1521G>A (n.670+1521G>A) c.557G>A c.*989G>A (n.*989G>A) c.787+419G>A (n.787+419G>A) c.803G>A c.409+419G>A (n.409+419G>A) c.412+419G>A (n.412+419G>A) c.*1142G>A (n.*1142G>A) c.5-30374G>A (n.5-30374G>A) c.-43-19804G>A (n.-43-19804G>A) c.-99+30946G>A (n.-99+30946G>A) n.1342G>A n.1383G>A | dbSNP |
17 | g.43094325_43094331delinsACCTAACAGTTCATGTGAG | CA658653707 | BRCA1 | n.1264_1270delinsCTCACATGAACTGTTAGGT c.1200_1206delinsCTCACATGAACTGTTAGGT (p.Gly401_Glu402delinsSerHisGluLeuLeuGly) c.1074_1080delinsCTCACATGAACTGTTAGGT (p.Gly359_Glu360delinsSerHisGluLeuLeuGly) c.1197_1203delinsCTCACATGAACTGTTAGGT (p.Gly400_Glu401delinsSerHisGluLeuLeuGly) c.1122_1128delinsCTCACATGAACTGTTAGGT (p.Gly375_Glu376delinsSerHisGluLeuLeuGly) c.784+413_784+419delinsCTCACATGAACTGTTAGGT (n.784+413_784+419delinsCTCACATGAACTGTTAGGT) c.646+413_646+419delinsCTCACATGAACTGTTAGGT (n.646+413_646+419delinsCTCACATGAACTGTTAGGT) c.312_318delinsCTCACATGAACTGTTAGGT (p.Gly105_Glu106delinsSerHisGluLeuLeuGly) c.1077_1083delinsCTCACATGAACTGTTAGGT (p.Gly360_Glu361delinsSerHisGluLeuLeuGly) c.1059_1065delinsCTCACATGAACTGTTAGGT (p.Gly354_Glu355delinsSerHisGluLeuLeuGly) c.664+413_664+419delinsCTCACATGAACTGTTAGGT (n.664+413_664+419delinsCTCACATGAACTGTTAGGT) c.706+413_706+419delinsCTCACATGAACTGTTAGGT (n.706+413_706+419delinsCTCACATGAACTGTTAGGT) c.*1208_*1214delinsCTCACATGAACTGTTAGGT (n.*1208_*1214delinsCTCACATGAACTGTTAGGT) c.670+1515_670+1521delinsCTCACATGAACTGTTAGGT (n.670+1515_670+1521delinsCTCACATGAACTGTTAGGT) c.551_557delinsCTCACATGAACTGTTAGGT c.*983_*989delinsCTCACATGAACTGTTAGGT (n.*983_*989delinsCTCACATGAACTGTTAGGT) c.787+413_787+419delinsCTCACATGAACTGTTAGGT (n.787+413_787+419delinsCTCACATGAACTGTTAGGT) c.797_803delinsCTCACATGAACTGTTAGGT c.409+413_409+419delinsCTCACATGAACTGTTAGGT (n.409+413_409+419delinsCTCACATGAACTGTTAGGT) c.412+413_412+419delinsCTCACATGAACTGTTAGGT (n.412+413_412+419delinsCTCACATGAACTGTTAGGT) c.*1136_*1142delinsCTCACATGAACTGTTAGGT (n.*1136_*1142delinsCTCACATGAACTGTTAGGT) c.5-30380_5-30374delinsCTCACATGAACTGTTAGGT (n.5-30380_5-30374delinsCTCACATGAACTGTTAGGT) c.-43-19810_-43-19804delinsCTCACATGAACTGTTAGGT (n.-43-19810_-43-19804delinsCTCACATGAACTGTTAGGT) c.-99+30940_-99+30946delinsCTCACATGAACTGTTAGGT (n.-99+30940_-99+30946delinsCTCACATGAACTGTTAGGT) n.1336_1342delinsCTCACATGAACTGTTAGGT n.1377_1383delinsCTCACATGAACTGTTAGGT | ClinVar dbSNP |
17 | g.43094326del | CA2695226284 | BRCA1 | n.1269del c.1205del (p.Glu402GlyfsTer8) c.1079del (p.Glu360GlyfsTer8) c.1202del (p.Glu401GlyfsTer8) c.1127del (p.Glu376GlyfsTer8) c.784+418del (n.784+418del) c.646+418del (n.646+418del) c.317del (p.Glu106GlyfsTer8) c.1082del (p.Glu361GlyfsTer8) c.1064del (p.Glu355GlyfsTer8) c.664+418del (n.664+418del) c.706+418del (n.706+418del) c.*1213del (n.*1213del) c.670+1520del (n.670+1520del) c.556del c.*988del (n.*988del) c.787+418del (n.787+418del) c.802del c.409+418del (n.409+418del) c.412+418del (n.412+418del) c.*1141del (n.*1141del) c.5-30375del (n.5-30375del) c.-43-19805del (n.-43-19805del) c.-99+30945del (n.-99+30945del) n.1341del n.1382del | |
17 | g.43094326T>A | CA10599640 | BRCA1 | n.1269A>T c.1205A>T (p.Glu402Val) c.1079A>T (p.Glu360Val) c.1202A>T (p.Glu401Val) c.1127A>T (p.Glu376Val) c.784+418A>T (n.784+418A>T) c.646+418A>T (n.646+418A>T) c.317A>T (p.Glu106Val) c.1082A>T (p.Glu361Val) c.1064A>T (p.Glu355Val) c.664+418A>T (n.664+418A>T) c.706+418A>T (n.706+418A>T) c.*1213A>T (n.*1213A>T) c.670+1520A>T (n.670+1520A>T) c.556A>T c.*988A>T (n.*988A>T) c.787+418A>T (n.787+418A>T) c.802A>T c.409+418A>T (n.409+418A>T) c.412+418A>T (n.412+418A>T) c.*1141A>T (n.*1141A>T) c.5-30375A>T (n.5-30375A>T) c.-43-19805A>T (n.-43-19805A>T) c.-99+30945A>T (n.-99+30945A>T) n.1341A>T n.1382A>T | ClinVar dbSNP |
17 | g.43094326T>C | CA10599641 | BRCA1 | n.1269A>G c.1205A>G (p.Glu402Gly) c.1079A>G (p.Glu360Gly) c.1202A>G (p.Glu401Gly) c.1127A>G (p.Glu376Gly) c.784+418A>G (n.784+418A>G) c.646+418A>G (n.646+418A>G) c.317A>G (p.Glu106Gly) c.1082A>G (p.Glu361Gly) c.1064A>G (p.Glu355Gly) c.664+418A>G (n.664+418A>G) c.706+418A>G (n.706+418A>G) c.*1213A>G (n.*1213A>G) c.670+1520A>G (n.670+1520A>G) c.556A>G c.*988A>G (n.*988A>G) c.787+418A>G (n.787+418A>G) c.802A>G c.409+418A>G (n.409+418A>G) c.412+418A>G (n.412+418A>G) c.*1141A>G (n.*1141A>G) c.5-30375A>G (n.5-30375A>G) c.-43-19805A>G (n.-43-19805A>G) c.-99+30945A>G (n.-99+30945A>G) n.1341A>G n.1382A>G | ClinVar dbSNP |
17 | g.43094326T>G | CA10599642 | BRCA1 | n.1269A>C c.1205A>C (p.Glu402Ala) c.1079A>C (p.Glu360Ala) c.1202A>C (p.Glu401Ala) c.1127A>C (p.Glu376Ala) c.784+418A>C (n.784+418A>C) c.646+418A>C (n.646+418A>C) c.317A>C (p.Glu106Ala) c.1082A>C (p.Glu361Ala) c.1064A>C (p.Glu355Ala) c.664+418A>C (n.664+418A>C) c.706+418A>C (n.706+418A>C) c.*1213A>C (n.*1213A>C) c.670+1520A>C (n.670+1520A>C) c.556A>C c.*988A>C (n.*988A>C) c.787+418A>C (n.787+418A>C) c.802A>C c.409+418A>C (n.409+418A>C) c.412+418A>C (n.412+418A>C) c.*1141A>C (n.*1141A>C) c.5-30375A>C (n.5-30375A>C) c.-43-19805A>C (n.-43-19805A>C) c.-99+30945A>C (n.-99+30945A>C) n.1341A>C n.1382A>C | |
17 | g.43094326T= | CA2260784830 | BRCA1 | n.1269A= c.1205A= (p.Glu402=) c.1079A= (p.Glu360=) c.1202A= (p.Glu401=) c.1127A= (p.Glu376=) c.784+418A= (n.784+418A=) c.646+418A= (n.646+418A=) c.317A= (p.Glu106=) c.1082A= (p.Glu361=) c.1064A= (p.Glu355=) c.664+418A= (n.664+418A=) c.706+418A= (n.706+418A=) c.*1213A= (n.*1213A=) c.670+1520A= (n.670+1520A=) c.556A= c.*988A= (n.*988A=) c.787+418A= (n.787+418A=) c.802A= c.409+418A= (n.409+418A=) c.412+418A= (n.412+418A=) c.*1141A= (n.*1141A=) c.5-30375A= (n.5-30375A=) c.-43-19805A= (n.-43-19805A=) c.-99+30945A= (n.-99+30945A=) n.1341A= n.1382A= | |
17 | g.43094326dup | CA645509518 | BRCA1 | n.1269dup c.1205dup (p.Ser403ValfsTer2) c.1079dup (p.Ser361ValfsTer2) c.1202dup (p.Ser402ValfsTer2) c.1127dup (p.Ser377ValfsTer2) c.784+418dup (n.784+418dup) c.646+418dup (n.646+418dup) c.317dup (p.Ser107ValfsTer2) c.1082dup (p.Ser362ValfsTer2) c.1064dup (p.Ser356ValfsTer2) c.664+418dup (n.664+418dup) c.706+418dup (n.706+418dup) c.*1213dup (n.*1213dup) c.670+1520dup (n.670+1520dup) c.556dup c.*988dup (n.*988dup) c.787+418dup (n.787+418dup) c.802dup c.409+418dup (n.409+418dup) c.412+418dup (n.412+418dup) c.*1141dup (n.*1141dup) c.5-30375dup (n.5-30375dup) c.-43-19805dup (n.-43-19805dup) c.-99+30945dup (n.-99+30945dup) n.1341dup n.1382dup | ClinVar dbSNP |
17 | g.43094326_43094327delinsTC | CA2260784829 | BRCA1 | n.1268_1269delinsGA c.1204_1205delinsGA (p.Glu402=) c.1078_1079delinsGA (p.Glu360=) c.1201_1202delinsGA (p.Glu401=) c.1126_1127delinsGA (p.Glu376=) c.784+417_784+418delinsGA (n.784+417_784+418delinsGA) c.646+417_646+418delinsGA (n.646+417_646+418delinsGA) c.316_317delinsGA (p.Glu106=) c.1081_1082delinsGA (p.Glu361=) c.1063_1064delinsGA (p.Glu355=) c.664+417_664+418delinsGA (n.664+417_664+418delinsGA) c.706+417_706+418delinsGA (n.706+417_706+418delinsGA) c.*1212_*1213delinsGA (n.*1212_*1213delinsGA) c.670+1519_670+1520delinsGA (n.670+1519_670+1520delinsGA) c.555_556delinsGA c.*987_*988delinsGA (n.*987_*988delinsGA) c.787+417_787+418delinsGA (n.787+417_787+418delinsGA) c.801_802delinsGA c.409+417_409+418delinsGA (n.409+417_409+418delinsGA) c.412+417_412+418delinsGA (n.412+417_412+418delinsGA) c.*1140_*1141delinsGA (n.*1140_*1141delinsGA) c.5-30376_5-30375delinsGA (n.5-30376_5-30375delinsGA) c.-43-19806_-43-19805delinsGA (n.-43-19806_-43-19805delinsGA) c.-99+30944_-99+30945delinsGA (n.-99+30944_-99+30945delinsGA) n.1340_1341delinsGA n.1381_1382delinsGA | |
17 | g.43094327C>A | CA000794 | BRCA1 | n.1268G>T c.1204G>T (p.Glu402Ter) c.1078G>T (p.Glu360Ter) c.1201G>T (p.Glu401Ter) c.1126G>T (p.Glu376Ter) c.784+417G>T (n.784+417G>T) c.646+417G>T (n.646+417G>T) c.316G>T (p.Glu106Ter) c.1081G>T (p.Glu361Ter) c.1063G>T (p.Glu355Ter) c.664+417G>T (n.664+417G>T) c.706+417G>T (n.706+417G>T) c.*1212G>T (n.*1212G>T) c.670+1519G>T (n.670+1519G>T) c.555G>T c.*987G>T (n.*987G>T) c.787+417G>T (n.787+417G>T) c.801G>T c.409+417G>T (n.409+417G>T) c.412+417G>T (n.412+417G>T) c.*1140G>T (n.*1140G>T) c.5-30376G>T (n.5-30376G>T) c.-43-19806G>T (n.-43-19806G>T) c.-99+30944G>T (n.-99+30944G>T) n.1340G>T n.1381G>T | ClinVar dbSNP |
17 | g.43094327C= | CA2260784831 | BRCA1 | n.1268G= c.1204G= (p.Glu402=) c.1078G= (p.Glu360=) c.1201G= (p.Glu401=) c.1126G= (p.Glu376=) c.784+417G= (n.784+417G=) c.646+417G= (n.646+417G=) c.316G= (p.Glu106=) c.1081G= (p.Glu361=) c.1063G= (p.Glu355=) c.664+417G= (n.664+417G=) c.706+417G= (n.706+417G=) c.*1212G= (n.*1212G=) c.670+1519G= (n.670+1519G=) c.555G= c.*987G= (n.*987G=) c.787+417G= (n.787+417G=) c.801G= c.409+417G= (n.409+417G=) c.412+417G= (n.412+417G=) c.*1140G= (n.*1140G=) c.5-30376G= (n.5-30376G=) c.-43-19806G= (n.-43-19806G=) c.-99+30944G= (n.-99+30944G=) n.1340G= n.1381G= | |
17 | g.43094327C>G | CA10599643 | BRCA1 | n.1268G>C c.1204G>C (p.Glu402Gln) c.1078G>C (p.Glu360Gln) c.1201G>C (p.Glu401Gln) c.1126G>C (p.Glu376Gln) c.784+417G>C (n.784+417G>C) c.646+417G>C (n.646+417G>C) c.316G>C (p.Glu106Gln) c.1081G>C (p.Glu361Gln) c.1063G>C (p.Glu355Gln) c.664+417G>C (n.664+417G>C) c.706+417G>C (n.706+417G>C) c.*1212G>C (n.*1212G>C) c.670+1519G>C (n.670+1519G>C) c.555G>C c.*987G>C (n.*987G>C) c.787+417G>C (n.787+417G>C) c.801G>C c.409+417G>C (n.409+417G>C) c.412+417G>C (n.412+417G>C) c.*1140G>C (n.*1140G>C) c.5-30376G>C (n.5-30376G>C) c.-43-19806G>C (n.-43-19806G>C) c.-99+30944G>C (n.-99+30944G>C) n.1340G>C n.1381G>C | dbSNP |
17 | g.43094327C>T | CA10599644 | BRCA1 | n.1268G>A c.1204G>A (p.Glu402Lys) c.1078G>A (p.Glu360Lys) c.1201G>A (p.Glu401Lys) c.1126G>A (p.Glu376Lys) c.784+417G>A (n.784+417G>A) c.646+417G>A (n.646+417G>A) c.316G>A (p.Glu106Lys) c.1081G>A (p.Glu361Lys) c.1063G>A (p.Glu355Lys) c.664+417G>A (n.664+417G>A) c.706+417G>A (n.706+417G>A) c.*1212G>A (n.*1212G>A) c.670+1519G>A (n.670+1519G>A) c.555G>A c.*987G>A (n.*987G>A) c.787+417G>A (n.787+417G>A) c.801G>A c.409+417G>A (n.409+417G>A) c.412+417G>A (n.412+417G>A) c.*1140G>A (n.*1140G>A) c.5-30376G>A (n.5-30376G>A) c.-43-19806G>A (n.-43-19806G>A) c.-99+30944G>A (n.-99+30944G>A) n.1340G>A n.1381G>A | ClinVar dbSNP COSMIC COSMIC |
17 | g.43094330del | CA000793 | BRCA1 | n.1268del c.1204del (p.Glu402SerfsTer8) c.1078del (p.Glu360SerfsTer8) c.1201del (p.Glu401SerfsTer8) c.1126del (p.Glu376SerfsTer8) c.784+417del (n.784+417del) c.646+417del (n.646+417del) c.316del (p.Glu106SerfsTer8) c.1081del (p.Glu361SerfsTer8) c.1063del (p.Glu355SerfsTer8) c.664+417del (n.664+417del) c.706+417del (n.706+417del) c.*1212del (n.*1212del) c.670+1519del (n.670+1519del) c.555del c.*987del (n.*987del) c.787+417del (n.787+417del) c.801del c.409+417del (n.409+417del) c.412+417del (n.412+417del) c.*1140del (n.*1140del) c.5-30376del (n.5-30376del) c.-43-19806del (n.-43-19806del) c.-99+30944del (n.-99+30944del) n.1340del n.1381del | ClinVar dbSNP |
17 | g.43094328C>A | CA500233575 | BRCA1 | n.1267G>T c.1203G>T (p.Gly401=) c.1077G>T (p.Gly359=) c.1200G>T (p.Gly400=) c.1125G>T (p.Gly375=) c.784+416G>T (n.784+416G>T) c.646+416G>T (n.646+416G>T) c.315G>T (p.Gly105=) c.1080G>T (p.Gly360=) c.1062G>T (p.Gly354=) c.664+416G>T (n.664+416G>T) c.706+416G>T (n.706+416G>T) c.*1211G>T (n.*1211G>T) c.670+1518G>T (n.670+1518G>T) c.554G>T c.*986G>T (n.*986G>T) c.787+416G>T (n.787+416G>T) c.800G>T c.409+416G>T (n.409+416G>T) c.412+416G>T (n.412+416G>T) c.*1139G>T (n.*1139G>T) c.5-30377G>T (n.5-30377G>T) c.-43-19807G>T (n.-43-19807G>T) c.-99+30943G>T (n.-99+30943G>T) n.1339G>T n.1380G>T | dbSNP |
17 | g.43094328C= | CA2260784832 | BRCA1 | n.1267G= c.1203G= (p.Gly401=) c.1077G= (p.Gly359=) c.1200G= (p.Gly400=) c.1125G= (p.Gly375=) c.784+416G= (n.784+416G=) c.646+416G= (n.646+416G=) c.315G= (p.Gly105=) c.1080G= (p.Gly360=) c.1062G= (p.Gly354=) c.664+416G= (n.664+416G=) c.706+416G= (n.706+416G=) c.*1211G= (n.*1211G=) c.670+1518G= (n.670+1518G=) c.554G= c.*986G= (n.*986G=) c.787+416G= (n.787+416G=) c.800G= c.409+416G= (n.409+416G=) c.412+416G= (n.412+416G=) c.*1139G= (n.*1139G=) c.5-30377G= (n.5-30377G=) c.-43-19807G= (n.-43-19807G=) c.-99+30943G= (n.-99+30943G=) n.1339G= n.1380G= | |
17 | g.43094328C>G | CA500233576 | BRCA1 | n.1267G>C c.1203G>C (p.Gly401=) c.1077G>C (p.Gly359=) c.1200G>C (p.Gly400=) c.1125G>C (p.Gly375=) c.784+416G>C (n.784+416G>C) c.646+416G>C (n.646+416G>C) c.315G>C (p.Gly105=) c.1080G>C (p.Gly360=) c.1062G>C (p.Gly354=) c.664+416G>C (n.664+416G>C) c.706+416G>C (n.706+416G>C) c.*1211G>C (n.*1211G>C) c.670+1518G>C (n.670+1518G>C) c.554G>C c.*986G>C (n.*986G>C) c.787+416G>C (n.787+416G>C) c.800G>C c.409+416G>C (n.409+416G>C) c.412+416G>C (n.412+416G>C) c.*1139G>C (n.*1139G>C) c.5-30377G>C (n.5-30377G>C) c.-43-19807G>C (n.-43-19807G>C) c.-99+30943G>C (n.-99+30943G>C) n.1339G>C n.1380G>C | dbSNP |
17 | g.43094328C>T | CA500233577 | BRCA1 | n.1267G>A c.1203G>A (p.Gly401=) c.1077G>A (p.Gly359=) c.1200G>A (p.Gly400=) c.1125G>A (p.Gly375=) c.784+416G>A (n.784+416G>A) c.646+416G>A (n.646+416G>A) c.315G>A (p.Gly105=) c.1080G>A (p.Gly360=) c.1062G>A (p.Gly354=) c.664+416G>A (n.664+416G>A) c.706+416G>A (n.706+416G>A) c.*1211G>A (n.*1211G>A) c.670+1518G>A (n.670+1518G>A) c.554G>A c.*986G>A (n.*986G>A) c.787+416G>A (n.787+416G>A) c.800G>A c.409+416G>A (n.409+416G>A) c.412+416G>A (n.412+416G>A) c.*1139G>A (n.*1139G>A) c.5-30377G>A (n.5-30377G>A) c.-43-19807G>A (n.-43-19807G>A) c.-99+30943G>A (n.-99+30943G>A) n.1339G>A n.1380G>A | ClinVar dbSNP |
17 | g.43094329C>A | CA10599645 | BRCA1 | n.1266G>T c.1202G>T (p.Gly401Val) c.1076G>T (p.Gly359Val) c.1199G>T (p.Gly400Val) c.1124G>T (p.Gly375Val) c.784+415G>T (n.784+415G>T) c.646+415G>T (n.646+415G>T) c.314G>T (p.Gly105Val) c.1079G>T (p.Gly360Val) c.1061G>T (p.Gly354Val) c.664+415G>T (n.664+415G>T) c.706+415G>T (n.706+415G>T) c.*1210G>T (n.*1210G>T) c.670+1517G>T (n.670+1517G>T) c.553G>T c.*985G>T (n.*985G>T) c.787+415G>T (n.787+415G>T) c.799G>T c.409+415G>T (n.409+415G>T) c.412+415G>T (n.412+415G>T) c.*1138G>T (n.*1138G>T) c.5-30378G>T (n.5-30378G>T) c.-43-19808G>T (n.-43-19808G>T) c.-99+30942G>T (n.-99+30942G>T) n.1338G>T n.1379G>T | dbSNP |